#version 2.4 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source gene_name_source tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads normal_var_reads normal_vaf dbSNP_rsID GMAF A1BG 1 genome.wustl.edu 37 19 58864353 58864353 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 58864353 58864353 C T SNP A1BG ENST00000263100 human ensembl 70_37 -1 known missense c.281 p.R94H 0.503 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors A1BG HGNC ENSG00000121410 93 80 46.24 170 0 0.00 A1BG-AS1 503538 genome.wustl.edu 37 19 58864179 58864179 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 58864179 58864179 G C SNP A1BG-AS1 ENST00000595302 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors A1BG-AS1 HGNC ENSG00000268895 81 12 12.90 30 0 0.00 A1CF 29974 genome.wustl.edu 37 10 52587925 52587925 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 52587925 52587925 C G SNP A1CF ENST00000282641 human ensembl 70_37 -1 known missense c.735 p.E245D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 19 10 34.48 34 0 0.00 A1CF 29974 genome.wustl.edu 37 10 52601652 52601652 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 52601652 52601652 G C SNP A1CF ENST00000282641 human ensembl 70_37 -1 known missense c.335 p.A112G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 29 29 50.00 36 0 0.00 A2M 2 genome.wustl.edu 37 12 9262517 9262517 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 9262517 9262517 C G SNP A2M ENST00000318602 human ensembl 70_37 -1 known missense c.619 p.V207L 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 113 55 32.74 95 0 0.00 A2M 2 genome.wustl.edu 37 12 9265031 9265031 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 9265031 9265031 G A SNP A2M ENST00000318602 human ensembl 70_37 -1 known silent c.372 p.N124 0.000 superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 63 19 23.17 42 0 0.00 A2M 2 genome.wustl.edu 37 12 9265042 9265042 + Missense_Mutation SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 9265042 9265042 T C SNP A2M ENST00000318602 human ensembl 70_37 -1 known missense c.361 p.M121V 0.001 superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 23 54 70.13 33 0 0.00 A2ML1 144568 genome.wustl.edu 37 12 8982339 8982339 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 8982339 8982339 C T SNP A2ML1 ENST00000299698 human ensembl 70_37 +1 known silent c.426 p.V142 0.888 pfam_A2M_N pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 73 56 43.41 120 0 0.00 A2ML1 144568 genome.wustl.edu 37 12 8997932 8997932 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 8997932 8997932 G A SNP A2ML1 ENST00000540049 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors A2ML1 HGNC ENSG00000166535 37 10 21.28 12 0 0.00 A2ML1 144568 genome.wustl.edu 37 12 9013793 9013793 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 9013793 9013793 C T SNP A2ML1 ENST00000299698 human ensembl 70_37 +1 known silent c.3402 p.L1134 0.206 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 46 8 14.81 38 0 0.00 A4GALT 53947 genome.wustl.edu 37 22 43089412 43089412 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 43089412 43089412 G A SNP A4GALT ENST00000249005 human ensembl 70_37 -1 known silent c.546 p.L182 0.992 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 35 14 28.57 54 0 0.00 A4GNT 51146 genome.wustl.edu 37 3 137843671 137843671 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 137843671 137843671 G A SNP A4GNT ENST00000236709 human ensembl 70_37 -1 known missense c.458 p.S153F 0.066 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ENSG00000118017 50 22 30.56 82 0 0.00 AAAS 8086 genome.wustl.edu 37 12 53702789 53702789 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53702789 53702789 C T SNP AAAS ENST00000209873 human ensembl 70_37 -1 known silent c.951 p.Q317 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 28 18 39.13 41 0 0.00 AAAS 8086 genome.wustl.edu 37 12 53703052 53703052 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53703052 53703052 G C SNP AAAS ENST00000209873 human ensembl 70_37 -1 known nonsense c.824 p.S275* 0.985 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 17 18 51.43 40 0 0.00 AAAS 8086 genome.wustl.edu 37 12 53708178 53708178 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 53708178 53708178 G A SNP AAAS ENST00000209873 human ensembl 70_37 -1 known missense c.593 p.S198F 0.892 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 19 13 40.62 35 0 0.00 AACS 65985 genome.wustl.edu 37 12 125561151 125561151 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125561151 125561151 A G SNP AACS ENST00000316519 human ensembl 70_37 +1 known missense c.352 p.I118V 0.784 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 85 11 11.46 73 0 0.00 AACS 65985 genome.wustl.edu 37 12 125587612 125587612 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 125587612 125587612 C G SNP AACS ENST00000316519 human ensembl 70_37 +1 known nonsense c.752 p.S251* 0.998 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 46 16 25.81 68 0 0.00 AACS 65985 genome.wustl.edu 37 12 125591715 125591715 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 125591715 125591715 G A SNP AACS ENST00000316519 human ensembl 70_37 +1 known silent c.816 p.P272 0.002 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 28 7 18.92 47 0 0.00 AACS 65985 genome.wustl.edu 37 12 125603260 125603260 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125603260 125603260 C G SNP AACS ENST00000316519 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 53 16 23.19 73 0 0.00 AACSP1 729522 genome.wustl.edu 37 5 178203190 178203190 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 178203190 178203190 C G SNP AACSP1 ENST00000503486 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AACSP1 HGNC ENSG00000250420 61 14 18.67 29 0 0.00 AADAC 13 genome.wustl.edu 37 3 151532064 151532064 + Silent SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 151532064 151532064 A G SNP AADAC ENST00000232892 human ensembl 70_37 +1 known silent c.114 p.A38 0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 40 9 18.37 26 0 0.00 AADACL2 344752 genome.wustl.edu 37 3 151458487 151458487 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 151458487 151458487 G A SNP AADACL2 ENST00000356517 human ensembl 70_37 +1 known missense c.192 p.M64I 0.014 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 59 10 14.49 53 0 0.00 AADACL2 344752 genome.wustl.edu 37 3 151475084 151475084 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 151475084 151475084 G A SNP AADACL2 ENST00000356517 human ensembl 70_37 +1 known missense c.908 p.G303E 0.995 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 22 8 26.67 56 0 0.00 AADACL3 126767 genome.wustl.edu 37 1 12785847 12785847 + Missense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 12785847 12785847 C A SNP AADACL3 ENST00000359318 human ensembl 70_37 +1 known missense c.937 p.H313N 0.197 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 38 11 22.45 33 0 0.00 AADACL4 343066 genome.wustl.edu 37 1 12726089 12726089 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12726089 12726089 C T SNP AADACL4 ENST00000376221 human ensembl 70_37 +1 known silent c.567 p.V189 0.037 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 58 30 33.71 100 1 0.99 AADAT 51166 genome.wustl.edu 37 4 170990361 170990361 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 170990361 170990361 A C SNP AADAT ENST00000509167 human ensembl 70_37 -1 known silent c.753 p.L251 0.994 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC ENSG00000109576 10 3 23.08 15 0 0.00 AADAT 51166 genome.wustl.edu 37 4 170991780 170991780 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 170991780 170991780 G A SNP AADAT ENST00000509167 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC ENSG00000109576 87 17 16.35 138 0 0.00 AAED1 195827 genome.wustl.edu 37 9 99417103 99417103 + RNA SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 99417103 99417103 C G SNP AAED1 ENST00000464512 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AAED1 HGNC ENSG00000158122 25 12 32.43 43 0 0.00 AAGAB 79719 genome.wustl.edu 37 15 67524189 67524189 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 67524189 67524189 C T SNP AAGAB ENST00000261880 human ensembl 70_37 -1 known silent c.498 p.L166 0.995 pfam_Alpha/Gamma-adaptin-bd_p34 pfam_Alpha/Gamma-adaptin-bd_p34 - no_errors AAGAB HGNC ENSG00000103591 32 14 30.43 43 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69709945 69709945 + Splice_Site SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 69709945 69709945 C G SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known splice_site c.2366-1 e17-1 1.000 - - - no_errors AAK1 HGNC ENSG00000115977 28 4 12.50 28 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69723155 69723155 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 69723155 69723155 G C SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known missense c.2327 p.S776C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 10 5 33.33 31 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69741754 69741756 + In_Frame_Del DEL TGT TGT - TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 69741754 69741756 TGT - DEL AAK1 ENST00000409085 human ensembl 70_37 -1 known in_frame_del c.1625_1623 p.Q545in_frame_del 0.998:0.997:0.988 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 8 6 42.86 20 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69746217 69746217 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 69746217 69746217 G C SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known missense c.1366 p.Q456E 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 48 20 29.41 29 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69754432 69754432 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 69754432 69754432 G A SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known silent c.891 p.D297 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 23 3 11.54 27 0 0.00 AAK1 22848 genome.wustl.edu 37 2 69757802 69757802 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 69757802 69757802 G A SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known silent c.693 p.V231 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 46 15 24.59 106 0 0.00 AAMP 14 genome.wustl.edu 37 2 219134255 219134255 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 219134255 219134255 C T SNP AAMP ENST00000248450 human ensembl 70_37 -1 known missense c.124 p.D42N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 29 12 28.57 55 0 0.00 AAMP 14 genome.wustl.edu 37 2 219134716 219134716 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 219134716 219134716 C G SNP AAMP ENST00000248450 human ensembl 70_37 -1 known missense c.94 p.E32Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 80 41 33.88 70 0 0.00 AARS 16 genome.wustl.edu 37 16 70301613 70301613 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 70301613 70301613 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.1171 p.R391C 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 44 29 39.73 48 0 0.00 AARS 16 genome.wustl.edu 37 16 70302241 70302241 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70302241 70302241 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.1004 p.A335V 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 34 4 10.53 53 0 0.00 AARS 16 genome.wustl.edu 37 16 70303578 70303578 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 70303578 70303578 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.905 p.A302V 0.999 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 179 103 36.52 272 0 0.00 AARS 16 genome.wustl.edu 37 16 70303578 70303578 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 70303578 70303578 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.905 p.A302V 0.999 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 54 31 36.47 21 0 0.00 AASDH 132949 genome.wustl.edu 37 4 57237717 57237717 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 57237717 57237717 G A SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.761 p.S254L 0.986 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 31 5 13.89 17 0 0.00 AASDH 132949 genome.wustl.edu 37 4 57237772 57237772 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 57237772 57237772 G C SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.706 p.L236V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 9 9 50.00 19 0 0.00 AASDH 132949 genome.wustl.edu 37 4 57244534 57244534 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 57244534 57244534 C T SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.448 p.E150K 0.002 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 70 28 28.57 116 0 0.00 AASS 10157 genome.wustl.edu 37 7 121718000 121718000 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 121718000 121718000 C T SNP AASS ENST00000393376 human ensembl 70_37 -1 known missense c.2554 p.E852K 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 25 28 52.83 43 0 0.00 AASS 10157 genome.wustl.edu 37 7 121731835 121731835 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 121731835 121731835 C G SNP AASS ENST00000393376 human ensembl 70_37 -1 known missense c.1938 p.L646F 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 37 7 15.91 36 0 0.00 AATF 26574 genome.wustl.edu 37 17 35346678 35346678 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 35346678 35346678 C T SNP AATF ENST00000225402 human ensembl 70_37 +1 known nonsense c.1282 p.Q428* 0.188 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 280 58 17.16 331 0 0.00 AATK 9625 genome.wustl.edu 37 17 79093812 79093812 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 79093812 79093812 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known silent c.3807 p.G1269 0.018 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 1 3 75.00 13 0 0.00 AATK 9625 genome.wustl.edu 37 17 79094733 79094733 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79094733 79094733 G A SNP AATK ENST00000374792 human ensembl 70_37 -1 known nonsense c.2632 p.R878* 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 16 28 63.64 76 0 0.00 AATK 9625 genome.wustl.edu 37 17 79094811 79094811 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 79094811 79094811 G A SNP AATK ENST00000326724 human ensembl 70_37 -1 known silent c.2925 p.P975 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 60 41 40.59 99 0 0.00 AATK 9625 genome.wustl.edu 37 17 79096487 79096487 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 79096487 79096487 G C SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.1249 p.L417V 0.257 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 8 3 27.27 27 0 0.00 AATK 9625 genome.wustl.edu 37 17 79097112 79097112 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79097112 79097112 C G SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.994 p.E332Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 14 6 30.00 9 0 0.00 AATK 9625 genome.wustl.edu 37 17 79098591 79098591 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 79098591 79098591 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.898 p.E300K 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 39 39 50.00 45 0 0.00 AATK 9625 genome.wustl.edu 37 17 79102290 79102290 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 79102290 79102290 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.394 p.G132S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 31 4 11.43 56 0 0.00 AATK-AS1 388428 genome.wustl.edu 37 17 79152851 79152851 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 79152851 79152851 G C SNP AATK-AS1 ENST00000414089 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AATK-AS1 HGNC ENSG00000225180 12 27 69.23 39 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107549160 107549160 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 107549160 107549160 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6302 p.S2101F 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 12 14 53.85 26 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107550317 107550317 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 107550317 107550317 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6088 p.R2030W 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 109 55 33.33 190 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107550317 107550317 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 107550317 107550317 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6088 p.R2030W 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 31 23 42.59 36 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107578433 107578433 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 107578433 107578433 G T SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known silent c.3729 p.T1243 0.954 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 41 6 12.77 48 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107583755 107583755 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 107583755 107583755 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.2861 p.S954L 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 10 17 62.96 29 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107593363 107593363 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 107593363 107593363 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known nonsense c.1735 p.R579* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 39 16 29.09 44 0 0.00 ABCA1 19 genome.wustl.edu 37 9 107620810 107620810 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 107620810 107620810 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.713 p.P238L 0.993 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 48 26 35.14 79 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67149465 67149465 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 67149465 67149465 C T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.4117 p.E1373K 0.001 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 36 37 50.68 62 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67171598 67171598 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67171598 67171598 G A SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known silent c.2826 p.I942 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 48 17 26.15 19 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67171601 67171601 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 67171601 67171601 C G SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.2823 p.L941F 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 81 20 19.80 114 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67186575 67186575 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67186575 67186575 C T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known silent c.2055 p.R685 0.007 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 45 11 19.64 22 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67187321 67187321 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67187321 67187321 A T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.2007 p.F669L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 32 5 13.51 60 0 0.00 ABCA10 10349 genome.wustl.edu 37 17 67212121 67212121 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 67212121 67212121 C G SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.693 p.M231I 0.002 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 77 21 21.43 104 0 0.00 ABCA11P 79963 genome.wustl.edu 37 4 419621 419621 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 419621 419621 C T SNP ABCA11P ENST00000451020 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors ABCA11P HGNC ENSG00000251595 22 8 26.67 58 0 0.00 ABCA11P 79963 genome.wustl.edu 37 4 419668 419668 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 419668 419668 G C SNP ABCA11P ENST00000451020 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 36 11 23.40 68 0 0.00 ABCA11P 79963 genome.wustl.edu 37 4 419737 419737 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 419737 419737 G C SNP ABCA11P ENST00000451020 human ensembl 70_37 -1 known rna NULL NULL 0.264 - - - no_errors ABCA11P HGNC ENSG00000251595 31 15 32.61 60 0 0.00 ABCA11P 79963 genome.wustl.edu 37 4 420831 420831 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 420831 420831 G C SNP ABCA11P ENST00000507854 human ensembl 70_37 -1 known rna NULL NULL 0.308 - - - no_errors ABCA11P HGNC ENSG00000251595 31 14 31.11 71 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215802306 215802306 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 215802306 215802306 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.7470 p.L2490 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 18 7 28.00 55 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215812147 215812147 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 215812147 215812147 A T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.7238 p.L2413Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 46 13 22.03 55 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215818592 215818592 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 215818592 215818592 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.6633 p.L2211 0.629 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 31 15 32.61 54 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215819966 215819966 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 215819966 215819966 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.6353 p.S2118L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 48 11 18.33 36 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215823081 215823081 + Nonsense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 215823081 215823081 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.6037 p.Q2013* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 51 22 30.14 70 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215835046 215835046 + Nonsense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 215835046 215835046 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.5641 p.R1881* 0.138 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 48 9 15.79 77 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215843622 215843622 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 215843622 215843622 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.4883 p.S1628L 0.998 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 27 4 12.90 48 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215854146 215854146 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 215854146 215854146 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.3736 p.D1246N 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 18 31 63.27 56 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215855600 215855600 + Nonsense_Mutation SNP A A C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 215855600 215855600 A C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.3450 p.Y1150* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 50 38 43.18 112 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215865463 215865463 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 215865463 215865463 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.3145 p.Q1049* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 16 6 27.27 22 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215868960 215868960 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 215868960 215868960 C - DEL ABCA12 ENST00000272895 human ensembl 70_37 -1 known frame_shift_del c.2656 p.E886fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 7 2 22.22 24 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215875124 215875124 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215875124 215875124 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2403 p.L801F 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 33 20 37.74 29 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215875193 215875193 + Silent SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 215875193 215875193 T C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.2334 p.T778 0.997 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 39 8 17.02 61 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215876202 215876202 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215876202 215876202 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2293 p.E765Q 0.979 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 19 6 24.00 29 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215876718 215876718 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 215876718 215876718 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2098 p.P700S 0.952 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 209 62 22.79 423 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215876718 215876718 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 215876718 215876718 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2098 p.P700S 0.952 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 44 10 18.52 32 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215876785 215876785 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215876785 215876785 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.2031 p.L677 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 46 22 32.35 46 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215884415 215884415 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215884415 215884415 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.1393 p.E465K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 16 8 33.33 8 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215884458 215884458 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 215884458 215884458 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.1350 p.E450 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 18 4 18.18 15 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215890462 215890463 + Frame_Shift_Ins INS - - T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 215890462 215890463 - T INS ABCA12 ENST00000272895 human ensembl 70_37 -1 known frame_shift_ins c.1222_1221 p.S407fs 0.999:1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 74 17 18.68 70 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215914364 215914364 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 215914364 215914364 T C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.679 p.K227E 0.260 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 18 12 40.00 43 0 0.00 ABCA12 26154 genome.wustl.edu 37 2 215940284 215940284 + Frame_Shift_Del DEL A A - TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 215940284 215940284 A - DEL ABCA12 ENST00000412081 human ensembl 70_37 -1 novel frame_shift_del c.220 p.S74fs 0.082 NULL NULL - no_errors ABCA12 HGNC ENSG00000144452 43 6 12.24 9 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48273629 48273629 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 48273629 48273629 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.778 p.L260 0.026 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 28 11 28.21 48 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48285128 48285128 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48285128 48285128 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.1410 p.E470 0.677 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 12 14 53.85 45 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48311467 48311467 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 48311467 48311467 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.2204 p.S735L 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 57 15 20.83 76 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48312174 48312174 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48312174 48312174 T C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.2911 p.Y971H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 20 4 16.67 44 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48312257 48312257 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 48312257 48312257 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.2994 p.I998 0.131 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 18 11 37.93 10 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48312496 48312496 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 48312496 48312496 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.3233 p.S1078F 0.666 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 31 10 24.39 52 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48315169 48315169 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 48315169 48315169 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.5906 p.S1969* 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 16 8 33.33 25 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48315793 48315793 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 48315793 48315793 G C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.6530 p.R2177T 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 35 14 28.57 45 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48315852 48315852 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48315852 48315852 A C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.6589 p.N2197H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 16 13 44.83 46 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48318457 48318457 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 48318457 48318457 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.7666 p.D2556N 0.012 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 11 9 45.00 37 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48318505 48318505 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48318505 48318505 G T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.7714 p.E2572* 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 10 6 37.50 15 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48349706 48349706 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 48349706 48349706 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.9484 p.R3162* 0.009 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 59 11 15.71 69 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48412032 48412032 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 48412032 48412032 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.11071 p.L3691 0.931 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 44 6 12.00 36 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48431550 48431550 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 48431550 48431550 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.11687 p.S3896F 0.391 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 34 12 26.09 85 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48431563 48431563 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 48431563 48431563 C G SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.11700 p.I3900M 0.001 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 48 15 23.81 54 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48450142 48450142 + Missense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 48450142 48450142 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12096 p.H4032Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 33 8 19.51 38 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48494709 48494709 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48494709 48494709 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12641 p.R4214Q 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 7 4 36.36 24 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48511183 48511183 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48511183 48511183 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12962 p.S4321L 0.901 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 28 22 44.00 53 0 0.00 ABCA13 154664 genome.wustl.edu 37 7 48634405 48634405 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 48634405 48634405 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.14740 p.H4914N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 62 35 36.08 104 0 0.00 ABCA17P 650655 genome.wustl.edu 37 16 2460230 2460230 + RNA SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 2460230 2460230 G C SNP ABCA17P ENST00000469908 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors ABCA17P HGNC ENSG00000238098 25 14 35.90 38 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139903454 139903454 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139903454 139903454 C A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known silent c.6879 p.V2293 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 23 6 20.69 19 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139907165 139907165 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 9 139907165 139907165 G A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.5080 p.R1694W 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 66 20 23.26 62 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139907932 139907932 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 9 139907932 139907932 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.4531 p.E1511K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 26 5 16.13 35 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139908007 139908007 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 139908007 139908007 G A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.4456 p.P1486S 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 23 41 64.06 48 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139912145 139912145 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 139912145 139912145 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known splice_site c.2212-1 e17-1 1.000 - - - no_errors ABCA2 HGNC ENSG00000107331 17 4 19.05 37 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139912772 139912772 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 9 139912772 139912772 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known silent c.1851 p.S617 0.730 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 14 16 53.33 63 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139915379 139915379 + Silent SNP G G T TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 9 139915379 139915379 G T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known silent c.1032 p.A344 0.997 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 19 4 17.39 14 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139915905 139915905 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139915905 139915905 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.836 p.R279H 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 2 5 71.43 17 0 0.00 ABCA2 20 genome.wustl.edu 37 9 139916825 139916825 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 9 139916825 139916825 G A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.545 p.A182V 0.027 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 15 4 21.05 18 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2333226 2333226 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 2333226 2333226 G A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.3996 p.L1332 0.557 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 79 30 27.52 57 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2336854 2336854 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2336854 2336854 G C SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.3119 p.A1040G 0.856 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 25 21 45.65 57 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2339537 2339537 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 2339537 2339537 G A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.2598 p.S866 0.410 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 49 30 37.97 55 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2345606 2345606 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 2345606 2345606 C A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.2399 p.R800I 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 105 14 11.76 120 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2345606 2345606 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 2345606 2345606 C T SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.2399 p.R800K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 79 24 23.30 87 0 0.00 ABCA3 21 genome.wustl.edu 37 16 2376198 2376198 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2376198 2376198 C T SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 14 8 36.36 17 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94461721 94461721 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 94461721 94461721 C A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.6760 p.E2254* 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 28 11 28.21 23 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94463474 94463474 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 94463474 94463474 G A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known silent c.6672 p.S2224 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 54 35 39.33 100 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94466477 94466477 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 94466477 94466477 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.6394 p.E2132Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 46 10 17.86 60 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94467069 94467069 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94467069 94467069 C T SNP ABCA4 ENST00000465352 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCA4 HGNC ENSG00000198691 6 5 45.45 9 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94473823 94473823 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 94473823 94473823 C A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.5866 p.D1956Y 1.000 pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 45 12 21.05 39 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94486804 94486804 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 94486804 94486804 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.5010 p.E1670D 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 37 19 33.93 56 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94487408 94487408 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 94487408 94487408 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known silent c.4767 p.V1589 0.999 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 40 7 14.89 43 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94508319 94508319 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 94508319 94508319 G C SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.3326 p.S1109* 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 18 13 41.94 32 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94564508 94564508 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 94564508 94564508 C T SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.610 p.A204T 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 5 27 84.38 32 0 0.00 ABCA4 24 genome.wustl.edu 37 1 94568588 94568588 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 94568588 94568588 G A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.553 p.Q185* 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 19 14 42.42 50 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67246763 67246763 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 67246763 67246763 C G SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known splice_site c.4539-1 e35-1 1.000 - - - no_errors ABCA5 HGNC ENSG00000154265 99 31 23.85 93 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67247993 67247993 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 17 67247993 67247993 G T SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.4433 p.T1478N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 11 3 21.43 42 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67261034 67261034 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 67261034 67261034 T C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.3160 p.T1054A 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 18 29 61.70 35 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67261034 67261034 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 67261034 67261034 T C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.3160 p.T1054A 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 30 29 49.15 49 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67302965 67302965 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 67302965 67302965 G A SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.689 p.S230L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 23 9 28.12 58 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67309320 67309320 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67309320 67309320 G C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.220 p.L74V 0.008 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 9 5 35.71 24 0 0.00 ABCA5 23461 genome.wustl.edu 37 17 67310553 67310553 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67310553 67310553 A G SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.4 p.S2P 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 9 3 25.00 20 0 0.00 ABCA6 23460 genome.wustl.edu 37 17 67077221 67077221 + Missense_Mutation SNP T T A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 67077221 67077221 T A SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.4682 p.H1561L 0.962 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 33 4 10.81 30 0 0.00 ABCA6 23460 genome.wustl.edu 37 17 67101716 67101716 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67101716 67101716 T G SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.2627 p.Y876S 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 27 9 25.00 57 0 0.00 ABCA6 23460 genome.wustl.edu 37 17 67108351 67108351 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 67108351 67108351 C A SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.2105 p.R702I 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 12 3 20.00 54 0 0.00 ABCA6 23460 genome.wustl.edu 37 17 67109414 67109414 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 17 67109414 67109414 G T SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.1990 p.H664N 0.015 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 12 3 20.00 47 0 0.00 ABCA6 23460 genome.wustl.edu 37 17 67124905 67124905 + Missense_Mutation SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 17 67124905 67124905 G A SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.974 p.A325V 0.767 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 19 3 13.64 52 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1042338 1042338 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1042338 1042338 C T SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.440 p.S147F 0.000 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 51 18 26.09 54 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1043092 1043092 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 1043092 1043092 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.632 p.R211Q 0.000 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 28 4 12.50 71 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1049293 1049293 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 1049293 1049293 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known silent c.2409 p.L803 0.652 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 77 49 38.89 63 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1050958 1050958 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 1050958 1050958 C G SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.2591 p.S864C 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 12 16 57.14 63 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1053488 1053488 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 1053488 1053488 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known silent c.3381 p.L1127 0.999 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 14 9 39.13 22 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1056231 1056231 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 1056231 1056231 G T SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.4405 p.D1469Y 0.101 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 42 31 42.47 83 0 0.00 ABCA7 10347 genome.wustl.edu 37 19 1063796 1063796 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 1063796 1063796 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.5885 p.R1962H 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 49 26 34.67 161 0 0.00 ABCA8 10351 genome.wustl.edu 37 17 66871433 66871433 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 66871433 66871433 C T SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known silent c.4599 p.L1533 0.860 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 210 27 11.34 47 0 0.00 ABCA8 10351 genome.wustl.edu 37 17 66887638 66887638 + Missense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 17 66887638 66887638 C A SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.3136 p.D1046Y 0.898 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 44 10 18.52 55 0 0.00 ABCA8 10351 genome.wustl.edu 37 17 66890334 66890334 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 66890334 66890334 C G SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.3016 p.E1006Q 0.370 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 33 12 26.67 36 0 0.00 ABCA8 10351 genome.wustl.edu 37 17 66914283 66914283 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 66914283 66914283 G C SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known nonsense c.1952 p.S651* 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 172 29 14.43 66 0 0.00 ABCA8 10351 genome.wustl.edu 37 17 66924155 66924155 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 66924155 66924155 G A SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.1175 p.S392L 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 36 16 30.77 46 0 0.00 ABCA9 10350 genome.wustl.edu 37 17 67014661 67014661 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 67014661 67014661 G C SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known nonsense c.2660 p.S887* 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 36 14 28.00 18 0 0.00 ABCA9 10350 genome.wustl.edu 37 17 67023208 67023208 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67023208 67023208 C A SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known missense c.1959 p.R653S 0.972 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 21 7 25.00 31 0 0.00 ABCA9 10350 genome.wustl.edu 37 17 67039792 67039792 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 67039792 67039792 A T SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known nonsense c.638 p.L213* 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 13 8 38.10 27 0 0.00 ABCA9 10350 genome.wustl.edu 37 17 67045564 67045564 + Missense_Mutation SNP T T A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 67045564 67045564 T A SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known missense c.164 p.H55L 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 21 4 16.00 23 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87133510 87133510 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 87133510 87133510 A T SNP ABCB1 ENST00000488737 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ABCB1 HGNC ENSG00000085563 16 11 40.74 13 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87133510 87133510 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 87133510 87133510 A T SNP ABCB1 ENST00000488737 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ABCB1 HGNC ENSG00000085563 32 16 33.33 29 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87133740 87133740 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 87133740 87133740 G C SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.3662 p.A1221G 1.000 pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 30 36 54.55 64 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87135251 87135251 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 87135251 87135251 C G SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.3598 p.D1200H 1.000 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 40 14 25.93 62 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87150144 87150144 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 87150144 87150144 G C SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.2734 p.Q912E 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 20 9 31.03 47 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87179273 87179273 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 87179273 87179273 G A SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.1448 p.T483M 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 42 16 27.59 70 0 0.00 ABCB1 5243 genome.wustl.edu 37 7 87179871 87179871 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 87179871 87179871 C T SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known silent c.1137 p.S379 0.052 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 43 20 31.75 59 0 0.00 ABCB10 23456 genome.wustl.edu 37 1 229653815 229653815 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229653815 229653815 T C SNP ABCB10 ENST00000498158 human ensembl 70_37 -1 known rna NULL NULL 0.133 - - - no_errors ABCB10 HGNC ENSG00000135776 25 14 35.90 36 0 0.00 ABCB10 23456 genome.wustl.edu 37 1 229667459 229667459 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 229667459 229667459 C T SNP ABCB10 ENST00000344517 human ensembl 70_37 -1 known silent c.1359 p.S453 0.021 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 27 28 50.91 38 0 0.00 ABCB10 23456 genome.wustl.edu 37 1 229667459 229667459 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 229667459 229667459 C T SNP ABCB10 ENST00000344517 human ensembl 70_37 -1 known silent c.1359 p.S453 0.021 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 78 50 39.06 131 0 0.00 ABCB10 23456 genome.wustl.edu 37 1 229678057 229678057 + Missense_Mutation SNP A A C TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 229678057 229678057 A C SNP ABCB10 ENST00000344517 human ensembl 70_37 -1 known missense c.983 p.I328S 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 35 27 43.55 106 0 0.00 ABCB11 8647 genome.wustl.edu 37 2 169787297 169787297 + Missense_Mutation SNP T T A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 2 169787297 169787297 T A SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known missense c.3289 p.N1097Y 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 21 23 52.27 35 0 0.00 ABCB11 8647 genome.wustl.edu 37 2 169801175 169801175 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 169801175 169801175 G A SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known silent c.2550 p.L850 0.925 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 23 13 36.11 25 0 0.00 ABCB11 8647 genome.wustl.edu 37 2 169825872 169825872 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 169825872 169825872 C G SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known missense c.1999 p.E667Q 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 32 12 27.27 55 0 0.00 ABCB11 8647 genome.wustl.edu 37 2 169826001 169826001 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 169826001 169826001 C T SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known missense c.1870 p.D624N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 25 11 30.56 29 0 0.00 ABCB11 8647 genome.wustl.edu 37 2 169847359 169847359 + Nonsense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 169847359 169847359 G C SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known nonsense c.860 p.S287* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 25 15 37.50 54 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87032462 87032462 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 87032462 87032462 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known missense c.3643 p.E1215K 1.000 pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 76 28 26.92 98 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87041264 87041264 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 87041264 87041264 G A SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known nonsense c.2869 p.R957* 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 13 6 31.58 31 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 87074281 87074282 - A INS ABCB4 ENST00000265723 human ensembl 70_37 -1 known frame_shift_ins c.1016_1015 p.S339fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 21 3 12.50 27 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87082375 87082375 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 7 87082375 87082375 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known missense c.421 p.A141T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 9 7 43.75 42 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87083892 87083892 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 87083892 87083892 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known silent c.303 p.S101 0.980 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 39 17 30.36 26 0 0.00 ABCB4 5244 genome.wustl.edu 37 7 87104772 87104772 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 87104772 87104772 C G SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known missense c.10 p.E4Q 0.036 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 80 26 24.53 64 0 0.00 ABCB5 340273 genome.wustl.edu 37 7 20685645 20685645 + Missense_Mutation SNP G G T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 7 20685645 20685645 G T SNP ABCB5 ENST00000404938 human ensembl 70_37 +1 putative missense c.865 p.V289L 0.650 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 63 37 37.00 53 0 0.00 ABCB5 340273 genome.wustl.edu 37 7 20738062 20738062 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 20738062 20738062 T G SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.708 p.I236M 0.998 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 14 7 33.33 41 0 0.00 ABCB5 340273 genome.wustl.edu 37 7 20762743 20762743 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 20762743 20762743 G C SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known silent c.1191 p.L397 0.554 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 47 19 28.79 60 0 0.00 ABCB5 340273 genome.wustl.edu 37 7 20766758 20766758 + Missense_Mutation SNP A A C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 20766758 20766758 A C SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.1386 p.Q462H 0.969 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 12 4 25.00 14 0 0.00 ABCB5 340273 genome.wustl.edu 37 7 20782555 20782555 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 20782555 20782555 G A SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.1745 p.R582H 0.998 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 37 31 44.93 43 0 0.00 ABCB6 10058 genome.wustl.edu 37 2 220075187 220075187 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 220075187 220075187 G A SNP ABCB6 ENST00000265316 human ensembl 70_37 -1 known missense c.2267 p.A756V 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB6 HGNC ENSG00000115657 32 5 13.51 25 0 0.00 ABCB7 22 genome.wustl.edu 37 X 74282251 74282251 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 74282251 74282251 C T SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.1850 p.R617K 1.000 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 63 20 24.10 59 0 0.00 ABCB7 22 genome.wustl.edu 37 X 74295234 74295234 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 74295234 74295234 G A SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.821 p.P274L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 47 23 32.86 103 0 0.00 ABCB7 22 genome.wustl.edu 37 X 74295395 74295395 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 74295395 74295395 C G SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.660 p.Q220H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 46 97 67.83 50 0 0.00 ABCB8 11194 genome.wustl.edu 37 7 150730662 150730662 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 150730662 150730662 C T SNP ABCB8 ENST00000466956 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCB8 HGNC ENSG00000197150 34 24 41.38 36 0 0.00 ABCB8 11194 genome.wustl.edu 37 7 150730740 150730740 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 150730740 150730740 C T SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.195 p.H65 0.854 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 30 4 11.76 78 0 0.00 ABCB8 11194 genome.wustl.edu 37 7 150739122 150739122 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 150739122 150739122 G A SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.1743 p.V581 0.019 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 14 6 30.00 30 0 0.00 ABCB8 11194 genome.wustl.edu 37 7 150739173 150739173 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 150739173 150739173 C A SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.1794 p.P598 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 21 4 16.00 26 0 0.00 ABCB9 23457 genome.wustl.edu 37 12 123433238 123433238 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 123433238 123433238 G A SNP ABCB9 ENST00000442028 human ensembl 70_37 -1 known missense c.986 p.S329F 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB9 HGNC ENSG00000150967 46 55 53.92 86 0 0.00 ABCC1 4363 genome.wustl.edu 37 16 16130348 16130348 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 16130348 16130348 C T SNP ABCC1 ENST00000399408 human ensembl 70_37 +1 known missense c.697 p.R233C 0.991 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 24 6 20.00 39 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43395875 43395875 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 43395875 43395875 G C SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.159 p.P53 0.738 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 47 12 20.34 54 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43400097 43400097 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43400097 43400097 C G SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.379 p.H127D 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 78 34 30.36 84 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43406530 43406530 + Silent SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 43406530 43406530 C G SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.2124 p.L708 0.015 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 74 31 29.52 87 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43410728 43410728 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43410728 43410728 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.2247 p.L749 0.001 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 31 5 13.51 32 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43412981 43412981 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 43412981 43412981 G T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.2959 p.V987L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 16 11 40.74 41 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43413544 43413544 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 43413544 43413544 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.3238 p.H1080Y 0.020 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 35 14 28.57 31 0 0.00 ABCC10 89845 genome.wustl.edu 37 6 43416925 43416925 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 43416925 43416925 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.4186 p.L1396F 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 61 25 29.07 71 0 0.00 ABCC11 85320 genome.wustl.edu 37 16 48209285 48209285 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 48209285 48209285 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known silent c.3582 p.P1194 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 28 9 24.32 20 0 0.00 ABCC11 85320 genome.wustl.edu 37 16 48212593 48212593 + Missense_Mutation SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 16 48212593 48212593 G T SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.3263 p.A1088E 0.973 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 18 8 30.77 27 0 0.00 ABCC11 85320 genome.wustl.edu 37 16 48227826 48227826 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 48227826 48227826 G T SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.2472 p.F824L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 24 7 22.58 28 0 0.00 ABCC11 85320 genome.wustl.edu 37 16 48244925 48244925 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 48244925 48244925 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known silent c.1542 p.L514 0.000 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 34 22 39.29 42 0 0.00 ABCC11 85320 genome.wustl.edu 37 16 48249195 48249195 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 48249195 48249195 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.1012 p.R338C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 15 9 37.50 53 0 0.00 ABCC12 94160 genome.wustl.edu 37 16 48125046 48125046 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 48125046 48125046 G C SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.3270 p.L1090 0.005 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 262 65 19.82 321 0 0.00 ABCC12 94160 genome.wustl.edu 37 16 48130714 48130714 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 48130714 48130714 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.3138 p.L1046 0.998 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 145 46 24.08 195 0 0.00 ABCC12 94160 genome.wustl.edu 37 16 48139110 48139110 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 48139110 48139110 G A SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.2613 p.F871 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 15 14 48.28 27 0 0.00 ABCC12 94160 genome.wustl.edu 37 16 48162555 48162555 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 48162555 48162555 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known missense c.1330 p.E444K 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 46 13 22.03 86 0 0.00 ABCC12 94160 genome.wustl.edu 37 16 48172185 48172185 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48172185 48172185 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.933 p.L311 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 44 33 42.86 52 0 0.00 ABCC13 150000 genome.wustl.edu 37 21 15689804 15689804 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 15689804 15689804 T C SNP ABCC13 ENST00000482980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCC13 HGNC ENSG00000243064 27 4 12.90 34 0 0.00 ABCC2 1244 genome.wustl.edu 37 10 101557086 101557086 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 10 101557086 101557086 C A SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.865 p.L289M 0.997 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 23 3 11.54 43 0 0.00 ABCC2 1244 genome.wustl.edu 37 10 101577118 101577118 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 10 101577118 101577118 G A SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known silent c.2148 p.K716 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 31 30 49.18 65 0 0.00 ABCC2 1244 genome.wustl.edu 37 10 101611285 101611285 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 101611285 101611285 T G SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.4535 p.I1512S 1.000 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 10 12 54.55 33 0 0.00 ABCC2 1244 genome.wustl.edu 37 10 101611362 101611362 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 101611362 101611362 G A SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.4612 p.E1538K 0.831 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 26 25 49.02 50 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48735556 48735556 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 48735556 48735556 G C SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.600 p.K200N 0.001 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 69 9 11.54 92 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48738374 48738374 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48738374 48738374 C G SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.897 p.F299L 0.998 superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 30 14 31.82 30 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48738473 48738473 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48738473 48738473 C G SNP ABCC3 ENST00000502426 human ensembl 70_37 +1 known missense c.1051 p.Q351E 1.000 NULL NULL - no_errors ABCC3 HGNC ENSG00000108846 34 13 27.66 28 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48742570 48742570 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 48742570 48742570 C G SNP ABCC3 ENST00000502426 human ensembl 70_37 +1 known missense c.1450 p.Q484E 0.951 NULL NULL - no_errors ABCC3 HGNC ENSG00000108846 62 34 35.42 113 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48745145 48745145 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48745145 48745145 C T SNP ABCC3 ENST00000427699 human ensembl 70_37 +1 known silent c.1662 p.P554 0.000 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 - no_errors ABCC3 HGNC ENSG00000108846 28 4 12.50 32 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48745156 48745156 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48745156 48745156 G T SNP ABCC3 ENST00000427699 human ensembl 70_37 +1 known missense c.1673 p.G558V 0.003 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 - no_errors ABCC3 HGNC ENSG00000108846 21 4 16.00 28 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48745873 48745873 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48745873 48745873 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.1865 p.S622F 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 21 7 25.00 21 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48746594 48746594 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48746594 48746594 G A SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known silent c.2031 p.E677 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 31 8 20.51 23 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48750921 48750921 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 48750921 48750921 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.2501 p.P834L 1.000 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 34 9 20.93 107 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48761448 48761448 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 48761448 48761448 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known nonsense c.4093 p.Q1365* 0.739 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 54 7 11.29 39 0 0.00 ABCC3 8714 genome.wustl.edu 37 17 48768463 48768463 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48768463 48768463 C G SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.4486 p.L1496V 0.999 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 23 30 56.60 62 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95695857 95695857 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95695857 95695857 C G SNP ABCC4 ENST00000484109 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCC4 HGNC ENSG00000125257 6 9 60.00 8 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95696671 95696671 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95696671 95696671 C A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known nonsense c.3478 p.E1160* 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 37 8 17.78 43 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95727803 95727803 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 95727803 95727803 G A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.2689 p.R897W 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 61 10 14.08 38 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95735503 95735503 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 95735503 95735503 G A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known silent c.2577 p.A859 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 22 4 15.38 54 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95815421 95815421 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 13 95815421 95815421 C T SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.2263 p.V755I 0.950 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 30 4 11.76 56 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95839079 95839079 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 95839079 95839079 C G SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.1421 p.R474T 0.475 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 30 5 14.29 20 0 0.00 ABCC4 10257 genome.wustl.edu 37 13 95899248 95899248 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 95899248 95899248 C T SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.287 p.G96E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 22 7 24.14 41 0 0.00 ABCC5 10057 genome.wustl.edu 37 3 183655783 183655783 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 183655783 183655783 C A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.3760 p.D1254Y 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 30 4 11.76 21 0 0.00 ABCC5 10057 genome.wustl.edu 37 3 183669264 183669264 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 183669264 183669264 C A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.2909 p.R970M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 45 5 10.00 56 0 0.00 ABCC5 10057 genome.wustl.edu 37 3 183669665 183669665 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183669665 183669665 G A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known nonsense c.2794 p.R932* 0.990 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 85 18 17.48 113 0 0.00 ABCC5 10057 genome.wustl.edu 37 3 183685504 183685504 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183685504 183685504 G C SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known silent c.1812 p.L604 0.975 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 78 20 20.41 47 0 0.00 ABCC5 10057 genome.wustl.edu 37 3 183689641 183689641 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 183689641 183689641 C T SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.1471 p.E491K 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 56 7 11.11 68 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16244559 16244559 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 16244559 16244559 C T SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known missense c.4279 p.E1427K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 18 10 35.71 24 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16248553 16248553 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 16248553 16248553 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.4140 p.L1380 0.775 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 29 9 23.08 53 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16255325 16255325 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 16255325 16255325 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.3603 p.L1201 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 61 16 20.78 117 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16282745 16282745 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 16282745 16282745 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.1722 p.L574 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 36 11 23.40 73 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16291890 16291890 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 16291890 16291890 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.1326 p.V442 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 36 11 23.40 33 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16295943 16295943 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 16295943 16295943 G A SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known missense c.1091 p.T364M 0.977 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 65 14 17.72 53 0 0.00 ABCC6 368 genome.wustl.edu 37 16 16315644 16315644 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 16315644 16315644 C G SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.81 p.L27 0.004 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 29 31 51.67 70 0 0.00 ABCC6P1 653190 genome.wustl.edu 37 16 18584367 18584367 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 18584367 18584367 C T SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCC6P1 HGNC ENSG00000256340 127 39 23.21 123 0 0.00 ABCC6P1 653190 genome.wustl.edu 37 16 18584400 18584400 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 18584400 18584400 G A SNP ABCC6P1 ENST00000565118 human ensembl 70_37 +1 known rna NULL NULL 0.054 - - - no_errors ABCC6P1 HGNC ENSG00000256340 108 30 21.74 104 0 0.00 ABCC6P1 653190 genome.wustl.edu 37 16 18586122 18586122 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 18586122 18586122 G A SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ABCC6P1 HGNC ENSG00000256340 36 6 14.29 40 0 0.00 ABCC6P1 653190 genome.wustl.edu 37 16 18602481 18602481 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 18602481 18602481 G C SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 0.606 - - - no_errors ABCC6P1 HGNC ENSG00000256340 37 12 24.49 46 0 0.00 ABCC8 6833 genome.wustl.edu 37 11 17419331 17419331 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 17419331 17419331 G A SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.3770 p.A1257V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 9 5 35.71 20 0 0.00 ABCC8 6833 genome.wustl.edu 37 11 17429944 17429944 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 17429944 17429944 C G SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.2818 p.E940Q 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 132 33 20.00 188 0 0.00 ABCC8 6833 genome.wustl.edu 37 11 17432122 17432122 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17432122 17432122 C T SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.2638 p.D880N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 22 27 55.10 63 0 0.00 ABCC8 6833 genome.wustl.edu 37 11 17496434 17496434 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 17496434 17496434 C T SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.289 p.G97R 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 4 26 86.67 43 0 0.00 ABCC9 10060 genome.wustl.edu 37 12 21968729 21968730 + Frame_Shift_Ins INS - - CTTAAGAA TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 21968729 21968730 - CTTAAGAA INS ABCC9 ENST00000261200 human ensembl 70_37 -1 known frame_shift_ins c.3991_3990 p.H1330fs 1.000:0.997 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 109 15 12.10 61 0 0.00 ABCC9 10060 genome.wustl.edu 37 12 21997453 21997453 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 21997453 21997453 G A SNP ABCC9 ENST00000261200 human ensembl 70_37 -1 known silent c.3279 p.L1093 0.989 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 56 11 16.42 96 0 0.00 ABCC9 10060 genome.wustl.edu 37 12 22061143 22061143 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 22061143 22061143 G A SNP ABCC9 ENST00000261200 human ensembl 70_37 -1 known silent c.1323 p.I441 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 15 5 25.00 19 0 0.00 ABCC9 10060 genome.wustl.edu 37 12 22063160 22063160 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 22063160 22063160 G A SNP ABCC9 ENST00000261200 human ensembl 70_37 -1 known silent c.1251 p.V417 0.936 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 16 17 51.52 27 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152990784 152990784 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 152990784 152990784 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known silent c.63 p.L21 1.000 tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 3 3 50.00 9 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152990941 152990941 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 152990941 152990941 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.220 p.R74W 0.849 pfam_ABC_Ald_N,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 10 6 37.50 30 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152991176 152991176 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 152991176 152991176 G A SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.455 p.R152H 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 65 38 36.89 138 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152991452 152991452 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 152991452 152991452 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.731 p.S244L 0.952 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 47 7 12.96 43 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152994963 152994963 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 152994963 152994963 G A SNP ABCD1 ENST00000370129 human ensembl 70_37 +1 known missense c.622 p.A208T 0.000 NULL pfam_ABC_Ald_N - no_errors ABCD1 HGNC ENSG00000101986 34 7 17.07 38 0 0.00 ABCD1 215 genome.wustl.edu 37 X 152995018 152995018 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 152995018 152995018 G A SNP ABCD1 ENST00000370129 human ensembl 70_37 +1 known missense c.677 p.R226K 0.000 NULL pfam_ABC_Ald_N - no_errors ABCD1 HGNC ENSG00000101986 18 5 21.74 16 0 0.00 ABCD1 215 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 10 6 37.50 11 0 0.00 ABCD1 215 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 16 4 20.00 31 0 0.00 ABCD2 225 genome.wustl.edu 37 12 40013237 40013237 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 12 40013237 40013237 C G SNP ABCD2 ENST00000308666 human ensembl 70_37 -1 known missense c.181 p.E61Q 0.245 NULL pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD2 HGNC ENSG00000173208 124 38 23.46 174 1 0.56 ABCD3 5825 genome.wustl.edu 37 1 94946072 94946072 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 94946072 94946072 G A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.809 p.R270Q 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 76 22 22.45 77 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94972174 94972174 + Silent SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 94972174 94972174 C A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known silent c.1893 p.G631 0.994 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 63 23 26.74 87 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94980663 94980663 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94980663 94980663 C G SNP ABCD3 ENST00000464165 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCD3 HGNC ENSG00000117528 15 16 51.61 15 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94980758 94980758 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 94980758 94980758 G T SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.1974 p.E658D 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 15 3 16.67 44 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94982641 94982641 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 94982641 94982641 G A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.2008 p.E670K 1.000 pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 28 12 30.00 51 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94983783 94983783 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 94983783 94983783 C T SNP ABCD3 ENST00000464165 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors ABCD3 HGNC ENSG00000117528 16 11 40.74 27 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94984053 94984053 + RNA DEL A A - TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 94984053 94984053 A - DEL ABCD3 ENST00000484213 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors ABCD3 HGNC ENSG00000117528 20 6 23.08 17 0 0.00 ABCD3 5825 genome.wustl.edu 37 1 94984053 94984055 + RNA DEL AAA AAA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 94984053 94984055 AAA - DEL ABCD3 ENST00000484213 human ensembl 70_37 +1 known rna NULL NULL 0.959:0.972:0.991 - - - no_errors ABCD3 HGNC ENSG00000117528 18 4 18.18 29 0 0.00 ABCD4 5826 genome.wustl.edu 37 14 74753409 74753409 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 74753409 74753409 C G SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.1747 p.E583Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ENSG00000119688 37 9 19.57 48 0 0.00 ABCD4 5826 genome.wustl.edu 37 14 74756735 74756735 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 74756735 74756735 C T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.1414 p.E472K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ENSG00000119688 101 36 26.28 170 0 0.00 ABCD4 5826 genome.wustl.edu 37 14 74763119 74763119 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 74763119 74763119 G T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.459 p.F153L 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ENSG00000119688 135 21 13.46 129 0 0.00 ABCD4 5826 genome.wustl.edu 37 14 74764640 74764640 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 74764640 74764640 C T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.418 p.D140N 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ENSG00000119688 26 12 31.58 53 0 0.00 ABCE1 6059 genome.wustl.edu 37 4 146044714 146044714 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146044714 146044714 T G SNP ABCE1 ENST00000296577 human ensembl 70_37 +1 known silent c.1602 p.V534 0.998 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 16 3 15.79 38 0 0.00 ABCF2 10061 genome.wustl.edu 37 7 150913103 150913103 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 150913103 150913103 C T SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.1351 p.D451N 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 22 5 18.52 22 0 0.00 ABCF2 10061 genome.wustl.edu 37 7 150915945 150915945 + Missense_Mutation SNP C C A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 150915945 150915945 C A SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.1032 p.R344S 0.992 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 32 21 39.62 54 0 0.00 ABCF2 10061 genome.wustl.edu 37 7 150918700 150918700 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 150918700 150918700 G A SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known silent c.885 p.I295 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 41 19 31.67 84 0 0.00 ABCF2 10061 genome.wustl.edu 37 7 150920871 150920871 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150920871 150920871 C G SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.615 p.E205D 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 16 5 23.81 29 0 0.00 ABCF3 55324 genome.wustl.edu 37 3 183905482 183905482 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183905482 183905482 G A SNP ABCF3 ENST00000429586 human ensembl 70_37 +1 known missense c.379 p.E127K 0.999 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 84 28 25.00 63 0 0.00 ABCF3 55324 genome.wustl.edu 37 3 183910898 183910898 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183910898 183910898 G C SNP ABCF3 ENST00000429586 human ensembl 70_37 +1 known missense c.1759 p.E587Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 81 16 16.33 130 0 0.00 ABCG1 9619 genome.wustl.edu 37 21 43702483 43702483 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 43702483 43702483 G C SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1126 p.E376Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 23 24 51.06 70 0 0.00 ABCG1 9619 genome.wustl.edu 37 21 43704687 43704687 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704687 43704687 C A SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1190 p.S397Y 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 44 9 16.98 45 0 0.00 ABCG1 9619 genome.wustl.edu 37 21 43704738 43704738 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704738 43704738 C G SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1241 p.S414C 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 36 6 13.95 42 0 0.00 ABCG1 9619 genome.wustl.edu 37 21 43704742 43704742 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704742 43704742 C T SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known silent c.1245 p.I415 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 38 6 13.64 42 0 0.00 ABCG2 9429 genome.wustl.edu 37 4 89013433 89013433 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 89013433 89013433 G A SNP ABCG2 ENST00000237612 human ensembl 70_37 -1 known missense c.1921 p.L641F 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 7 3 30.00 31 0 0.00 ABCG2 9429 genome.wustl.edu 37 4 89052332 89052332 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89052332 89052332 C G SNP ABCG2 ENST00000237612 human ensembl 70_37 -1 known missense c.412 p.E138Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 22 6 21.43 23 0 0.00 ABCG4 64137 genome.wustl.edu 37 11 119020789 119020789 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119020789 119020789 G T SNP ABCG4 ENST00000307417 human ensembl 70_37 +1 known missense c.114 p.K38N 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 34 28 45.16 74 0 0.00 ABCG4 64137 genome.wustl.edu 37 11 119025602 119025602 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 119025602 119025602 C T SNP ABCG4 ENST00000307417 human ensembl 70_37 +1 known silent c.663 p.V221 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 87 20 18.69 93 0 0.00 ABCG5 64240 genome.wustl.edu 37 2 44051059 44051059 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 44051059 44051059 C T SNP ABCG5 ENST00000260645 human ensembl 70_37 -1 known silent c.1317 p.V439 0.813 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 41 23 35.94 54 0 0.00 ABCG5 64240 genome.wustl.edu 37 2 44051360 44051360 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 44051360 44051360 C A SNP ABCG5 ENST00000260645 human ensembl 70_37 -1 known silent c.1116 p.L372 0.996 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 26 30 53.57 50 0 0.00 ABCG5 64240 genome.wustl.edu 37 2 44053554 44053554 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 44053554 44053554 G C SNP ABCG5 ENST00000260645 human ensembl 70_37 -1 known silent c.741 p.L247 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 42 19 31.15 53 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44073306 44073306 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 44073306 44073306 T A SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known missense c.178 p.S60T 0.998 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 31 21 40.38 59 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44073355 44073355 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 44073355 44073355 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known missense c.227 p.T76I 0.000 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 81 10 10.99 69 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44079964 44079964 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 44079964 44079964 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.921 p.I307 0.000 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 94 11 10.48 107 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44101013 44101013 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 44101013 44101013 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1299 p.F433 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 51 29 36.25 70 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44104794 44104794 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 44104794 44104794 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1851 p.L617 0.003 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 41 34 45.33 52 0 0.00 ABCG8 64241 genome.wustl.edu 37 2 44104968 44104968 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 44104968 44104968 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1938 p.I646 0.560 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 40 24 37.50 59 0 0.00 ABHD10 55347 genome.wustl.edu 37 3 111700728 111700728 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 111700728 111700728 C T SNP ABHD10 ENST00000273359 human ensembl 70_37 +1 known silent c.240 p.F80 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 54 16 22.86 65 0 0.00 ABHD10 55347 genome.wustl.edu 37 3 111710503 111710503 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 111710503 111710503 G A SNP ABHD10 ENST00000273359 human ensembl 70_37 +1 known missense c.856 p.D286N 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 85 22 20.37 83 0 0.00 ABHD11 83451 genome.wustl.edu 37 7 73152310 73152310 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 73152310 73152310 C T SNP ABHD11 ENST00000468998 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ABHD11 HGNC ENSG00000106077 13 9 40.91 33 0 0.00 ABHD12B 145447 genome.wustl.edu 37 14 51371087 51371087 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 51371087 51371087 C T SNP ABHD12B ENST00000554566 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABHD12B HGNC ENSG00000131969 38 41 51.90 30 0 0.00 ABHD13 84945 genome.wustl.edu 37 13 108881678 108881678 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 108881678 108881678 C T SNP ABHD13 ENST00000375898 human ensembl 70_37 +1 known missense c.112 p.H38Y 1.000 NULL pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ENSG00000139826 79 9 10.23 58 0 0.00 ABHD13 84945 genome.wustl.edu 37 13 108882391 108882391 + Missense_Mutation SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 108882391 108882391 G C SNP ABHD13 ENST00000375898 human ensembl 70_37 +1 known missense c.825 p.M275I 1.000 NULL pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ENSG00000139826 5 5 50.00 11 0 0.00 ABHD14B 84836 genome.wustl.edu 37 3 52003448 52003448 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003448 52003448 G A SNP ABHD14B ENST00000361143 human ensembl 70_37 -1 known silent c.627 p.L209 0.071 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 143 30 17.05 130 0 0.00 ABHD14B 84836 genome.wustl.edu 37 3 52003448 52003448 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003448 52003448 G A SNP ABHD14B ENST00000361143 human ensembl 70_37 -1 known silent c.627 p.L209 0.071 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 46 11 19.30 23 0 0.00 ABHD14B 84836 genome.wustl.edu 37 3 52003871 52003871 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003871 52003871 G A SNP ABHD14B ENST00000461108 human ensembl 70_37 -1 putative nonsense c.541 p.Q181* 0.002 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 26 12 31.58 32 0 0.00 ABHD14B 84836 genome.wustl.edu 37 3 52003871 52003871 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 52003871 52003871 G A SNP ABHD14B ENST00000461108 human ensembl 70_37 -1 putative nonsense c.541 p.Q181* 0.002 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 55 10 15.38 55 0 0.00 ABHD15 116236 genome.wustl.edu 37 17 27889580 27889580 + Nonstop_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 27889580 27889580 C G SNP ABHD15 ENST00000307201 human ensembl 70_37 -1 known nonstop c.1406 p.*469S 1.000 NULL pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 16 6 27.27 48 0 0.00 ABHD15 116236 genome.wustl.edu 37 17 27893279 27893279 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 27893279 27893279 C G SNP ABHD15 ENST00000307201 human ensembl 70_37 -1 known missense c.706 p.E236Q 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 4 3 42.86 21 0 0.00 ABHD16B 140701 genome.wustl.edu 37 20 62494153 62494153 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 62494153 62494153 C T SNP ABHD16B ENST00000369916 human ensembl 70_37 +1 known silent c.1260 p.P420 0.006 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 23 13 36.11 27 0 0.00 ABHD2 11057 genome.wustl.edu 37 15 89694980 89694980 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 89694980 89694980 G A SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known silent c.267 p.V89 0.998 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 24 16 40.00 47 0 0.00 ABHD2 11057 genome.wustl.edu 37 15 89728683 89728683 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89728683 89728683 C G SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known missense c.751 p.Q251E 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 82 23 21.70 60 0 0.00 ABHD2 11057 genome.wustl.edu 37 15 89731451 89731451 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 89731451 89731451 G A SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known silent c.843 p.K281 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 48 16 25.00 58 0 0.00 ABHD3 171586 genome.wustl.edu 37 18 19239206 19239206 + Missense_Mutation SNP T T C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 19239206 19239206 T C SNP ABHD3 ENST00000289119 human ensembl 70_37 -1 known missense c.767 p.E256G 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 36 4 10.00 37 0 0.00 ABHD3 171586 genome.wustl.edu 37 18 19283676 19283676 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 19283676 19283676 G A SNP ABHD3 ENST00000289119 human ensembl 70_37 -1 known silent c.195 p.F65 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 13 9 40.91 31 0 0.00 ABHD8 79575 genome.wustl.edu 37 19 17405099 17405099 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17405099 17405099 C A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known nonsense c.1147 p.E383* 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 22 7 24.14 31 0 0.00 ABHD8 79575 genome.wustl.edu 37 19 17405201 17405201 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 17405201 17405201 C T SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known missense c.1045 p.E349K 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 23 10 30.30 36 0 0.00 ABHD8 79575 genome.wustl.edu 37 19 17405543 17405543 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17405543 17405543 G A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known silent c.873 p.F291 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 12 16 57.14 36 0 0.00 ABHD8 79575 genome.wustl.edu 37 19 17405645 17405645 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17405645 17405645 G A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known silent c.771 p.F257 1.000 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 12 4 25.00 29 0 0.00 ABI1 10006 genome.wustl.edu 37 10 27052880 27052880 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 27052880 27052880 G C SNP ABI1 ENST00000355394 human ensembl 70_37 -1 known missense c.833 p.S278C 1.000 prints_p67phox pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 6 5 45.45 20 0 0.00 ABI1 10006 genome.wustl.edu 37 10 27112160 27112160 + Silent SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 10 27112160 27112160 T C SNP ABI1 ENST00000355394 human ensembl 70_37 -1 known silent c.192 p.Q64 1.000 pfscan_T_SNARE_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 20 4 16.67 28 0 0.00 ABI2 10152 genome.wustl.edu 37 2 204292029 204292029 + Missense_Mutation SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 204292029 204292029 T G SNP ABI2 ENST00000295851 human ensembl 70_37 +1 known missense c.1496 p.L499R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 55 7 11.29 47 0 0.00 ABI3 51225 genome.wustl.edu 37 17 47295176 47295176 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 47295176 47295176 G A SNP ABI3 ENST00000225941 human ensembl 70_37 +1 known missense c.361 p.G121S 0.018 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 45 11 19.30 42 0 0.00 ABI3BP 25890 genome.wustl.edu 37 3 100511564 100511564 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 100511564 100511564 C T SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.1937 p.R646Q 0.973 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 32 25 43.86 106 0 0.00 ABI3BP 25890 genome.wustl.edu 37 3 100541493 100541493 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 100541493 100541493 G T SNP ABI3BP ENST00000383691 human ensembl 70_37 -1 known missense c.679 p.R227S 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 31 23 42.59 80 0 0.00 ABI3BP 25890 genome.wustl.edu 37 3 100581727 100581727 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 100581727 100581727 C T SNP ABI3BP ENST00000495063 human ensembl 70_37 -1 putative missense c.1186 p.E396K 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 100 26 20.63 83 0 0.00 ABI3BP 25890 genome.wustl.edu 37 3 100605128 100605128 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 100605128 100605128 C A SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.522 p.K174N 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 12 11 47.83 60 0 0.00 ABI3BP 25890 genome.wustl.edu 37 3 100645270 100645270 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 100645270 100645270 C G SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.156 p.L52F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 97 24 19.83 128 0 0.00 ABL1 25 genome.wustl.edu 37 9 133729451 133729451 + Missense_Mutation SNP A A T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 9 133729451 133729451 A T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.137 p.E46V 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 22 10 31.25 23 0 0.00 ABL1 25 genome.wustl.edu 37 9 133729510 133729510 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133729510 133729510 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.196 p.R66C 1.000 superfamily_SH3_domain pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 12 8 40.00 27 0 0.00 ABL1 25 genome.wustl.edu 37 9 133730462 133730462 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 133730462 133730462 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known silent c.585 p.I195 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 15 9 37.50 28 0 0.00 ABL1 25 genome.wustl.edu 37 9 133750392 133750392 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 133750392 133750392 C G SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.1280 p.P427R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 45 19 29.69 50 0 0.00 ABL1 25 genome.wustl.edu 37 9 133753889 133753891 + In_Frame_Del DEL AGA AGA - TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 9 133753889 133753891 AGA - DEL ABL1 ENST00000372348 human ensembl 70_37 +1 known in_frame_del c.1415_1417 p.K473in_frame_del 1.000:1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 160 70 30.43 235 0 0.00 ABL1 25 genome.wustl.edu 37 9 133759498 133759498 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 133759498 133759498 G A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known silent c.1878 p.K626 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 58 14 19.44 41 0 0.00 ABL1 25 genome.wustl.edu 37 9 133759592 133759592 + Nonsense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 133759592 133759592 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known nonsense c.1972 p.R658* 0.910 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 59 24 28.92 69 0 0.00 ABL1 25 genome.wustl.edu 37 9 133759698 133759698 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 133759698 133759698 G A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.2078 p.R693Q 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 24 8 25.00 28 0 0.00 ABL1 25 genome.wustl.edu 37 9 133760373 133760373 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 9 133760373 133760373 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.2753 p.P918L 0.999 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 7 3 30.00 10 0 0.00 ABL1 25 genome.wustl.edu 37 9 133760730 133760730 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 133760730 133760730 C A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.3110 p.P1037H 1.000 pfam_F-actin_binding,smart_F-actin_binding pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 29 4 12.12 27 0 0.00 ABL2 27 genome.wustl.edu 37 1 179077403 179077403 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 179077403 179077403 G C SNP ABL2 ENST00000502732 human ensembl 70_37 -1 known nonsense c.2999 p.S1000* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 153 40 20.73 207 0 0.00 ABL2 27 genome.wustl.edu 37 1 179095626 179095626 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 179095626 179095626 G A SNP ABL2 ENST00000502732 human ensembl 70_37 -1 known silent c.573 p.I191 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 61 10 14.08 52 0 0.00 ABLIM1 3983 genome.wustl.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 116203811 116203811 C T SNP ABLIM1 ENST00000277895 human ensembl 70_37 -1 known missense c.2114 p.R705H 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 36 14 28.00 33 0 0.00 ABLIM1 3983 genome.wustl.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 116203811 116203811 C T SNP ABLIM1 ENST00000277895 human ensembl 70_37 -1 known missense c.2114 p.R705H 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 72 39 35.14 119 0 0.00 ABLIM2 84448 genome.wustl.edu 37 4 8108346 8108346 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 8108346 8108346 G T SNP ABLIM2 ENST00000447017 human ensembl 70_37 -1 known missense c.29 p.A10D 0.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 33 4 10.53 41 0 0.00 ABLIM3 22885 genome.wustl.edu 37 5 148622102 148622102 + Splice_Site SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 5 148622102 148622102 G T SNP ABLIM3 ENST00000309868 human ensembl 70_37 +1 known splice_site c.1351+1 e14+1 1.000 - - - no_errors ABLIM3 HGNC ENSG00000173210 21 4 16.00 36 0 0.00 AOC1 26 genome.wustl.edu 37 7 150554780 150554780 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 150554780 150554780 G A SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.1222 p.D408N 0.347 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ENSG00000002726 23 12 34.29 74 0 0.00 AOC1 26 genome.wustl.edu 37 7 150557683 150557683 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 150557683 150557683 G C SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.2008 p.E670Q 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ENSG00000002726 16 70 81.40 62 0 0.00 AOC1 26 genome.wustl.edu 37 7 150558235 150558235 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150558235 150558235 G C SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.2251 p.E751Q 0.996 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ENSG00000002726 99 31 23.66 174 0 0.00 ABR 29 genome.wustl.edu 37 17 1012271 1012271 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 1012271 1012271 T G SNP ABR ENST00000291107 human ensembl 70_37 -1 known missense c.38 p.K13T 1.000 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 29 22 43.14 59 0 0.00 ABR 29 genome.wustl.edu 37 17 1028642 1028642 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 1028642 1028642 G A SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.122 p.P41L 0.986 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 101 13 11.40 97 0 0.00 ABR 29 genome.wustl.edu 37 17 915136 915136 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 915136 915136 A C SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.2051 p.I684R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 29 5 14.71 62 0 0.00 ABR 29 genome.wustl.edu 37 17 953339 953339 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 953339 953339 T G SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.1742 p.K581T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 293 54 15.56 381 0 0.00 ABRACL 58527 genome.wustl.edu 37 6 139355412 139355412 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 139355412 139355412 G A SNP ABRACL ENST00000461027 human ensembl 70_37 +1 known missense c.115 p.E39K 0.000 NULL NULL - no_errors ABRACL HGNC ENSG00000146386 25 17 40.48 66 0 0.00 ABTB2 25841 genome.wustl.edu 37 11 34189500 34189500 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 34189500 34189500 C T SNP ABTB2 ENST00000435224 human ensembl 70_37 -1 known missense c.1603 p.E535K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 46 29 38.67 105 0 0.00 ABTB2 25841 genome.wustl.edu 37 11 34378318 34378318 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34378318 34378318 G C SNP ABTB2 ENST00000435224 human ensembl 70_37 -1 known missense c.813 p.I271M 1.000 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 60 24 28.57 69 0 0.00 ACAA1 30 genome.wustl.edu 37 3 38164399 38164399 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 38164399 38164399 G C SNP ACAA1 ENST00000480865 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ACAA1 HGNC ENSG00000060971 8 9 52.94 16 0 0.00 ACAA2 10449 genome.wustl.edu 37 18 47310231 47310231 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47310231 47310231 G A SNP ACAA2 ENST00000285093 human ensembl 70_37 -1 known nonsense c.1180 p.Q394* 0.016 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 13 8 38.10 21 0 0.00 ACACA 31 genome.wustl.edu 37 17 35453990 35453990 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 35453990 35453990 C G SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.6832 p.D2278H 0.001 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 36 27 42.86 45 0 0.00 ACACA 31 genome.wustl.edu 37 17 35486321 35486321 + Silent SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 35486321 35486321 G T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known silent c.5914 p.R1972 0.997 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 35 4 10.26 55 0 0.00 ACACA 31 genome.wustl.edu 37 17 35562745 35562745 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 35562745 35562745 G T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known silent c.3990 p.I1330 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 26 4 13.33 40 0 0.00 ACACA 31 genome.wustl.edu 37 17 35605034 35605034 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 35605034 35605034 G A SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.2210 p.S737L 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 34 13 27.66 54 0 0.00 ACACA 31 genome.wustl.edu 37 17 35656239 35656239 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 35656239 35656239 C T SNP ACACA ENST00000360679 human ensembl 70_37 -1 known missense c.19 p.E7K 0.486 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 8 6 42.86 12 0 0.00 ACACA 31 genome.wustl.edu 37 17 35687173 35687173 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 35687173 35687173 G A SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.278 p.S93L 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 51 14 21.54 95 0 0.00 ACACA 31 genome.wustl.edu 37 17 35687252 35687252 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 35687252 35687252 C T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.199 p.E67K 0.809 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 77 9 10.47 41 0 0.00 ACACA 31 genome.wustl.edu 37 17 35766393 35766393 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 35766393 35766393 C G SNP ACACA ENST00000587545 human ensembl 70_37 -1 putative rna NULL NULL 0.978 - - - no_errors ACACA HGNC ENSG00000132142 27 11 28.95 42 0 0.00 ACACB 32 genome.wustl.edu 37 12 109577475 109577475 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 109577475 109577475 A G SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.265 p.R89G 0.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 55 33 37.50 81 0 0.00 ACACB 32 genome.wustl.edu 37 12 109614064 109614064 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 109614064 109614064 G C SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.1433 p.R478T 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 40 24 37.50 66 0 0.00 ACACB 32 genome.wustl.edu 37 12 109623483 109623483 + Missense_Mutation SNP A A G TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 109623483 109623483 A G SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.1918 p.N640D 0.000 pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 50 16 24.24 52 0 0.00 ACACB 32 genome.wustl.edu 37 12 109625846 109625846 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 109625846 109625846 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.2023 p.R675W 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 56 27 32.53 60 0 0.00 ACACB 32 genome.wustl.edu 37 12 109634908 109634908 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 109634908 109634908 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known silent c.2577 p.L859 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 40 10 20.00 38 0 0.00 ACACB 32 genome.wustl.edu 37 12 109654655 109654655 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 109654655 109654655 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.3494 p.S1165F 0.998 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 35 9 20.45 70 0 0.00 ACACB 32 genome.wustl.edu 37 12 109687835 109687835 + Missense_Mutation SNP G G C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 109687835 109687835 G C SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.5716 p.E1906Q 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 22 16 42.11 44 0 0.00 ACAD10 80724 genome.wustl.edu 37 12 112130576 112130576 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 112130576 112130576 G A SNP ACAD10 ENST00000455480 human ensembl 70_37 +1 known silent c.63 p.L21 0.006 NULL pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ENSG00000111271 18 10 35.71 29 0 0.00 ACAD10 80724 genome.wustl.edu 37 12 112167695 112167695 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 112167695 112167695 G C SNP ACAD10 ENST00000455480 human ensembl 70_37 +1 known silent c.1422 p.L474 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ENSG00000111271 17 25 59.52 68 0 0.00 ACAD11 84129 genome.wustl.edu 37 3 132294631 132294631 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 132294631 132294631 C T SNP ACAD11 ENST00000264990 human ensembl 70_37 -1 known silent c.1986 p.K662 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 35 8 18.60 46 0 0.00 ACAD11 84129 genome.wustl.edu 37 3 132294659 132294659 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 132294659 132294659 C T SNP ACAD11 ENST00000264990 human ensembl 70_37 -1 known missense c.1958 p.R653Q 0.995 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 20 17 45.95 29 0 0.00 ACAD8 27034 genome.wustl.edu 37 11 134128484 134128484 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 134128484 134128484 G T SNP ACAD8 ENST00000281182 human ensembl 70_37 +1 known missense c.456 p.M152I 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 27 3 10.00 40 0 0.00 ACAD9 28976 genome.wustl.edu 37 3 128598506 128598506 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 128598506 128598506 G C SNP ACAD9 ENST00000505602 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ACAD9 HGNC ENSG00000177646 148 74 33.04 173 0 0.00 ACAD9 28976 genome.wustl.edu 37 3 128598506 128598506 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 128598506 128598506 G C SNP ACAD9 ENST00000505602 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ACAD9 HGNC ENSG00000177646 31 18 36.73 32 0 0.00 ACAD9 28976 genome.wustl.edu 37 3 128615308 128615308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128615308 128615308 G A SNP ACAD9 ENST00000308982 human ensembl 70_37 +1 known silent c.483 p.Q161 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 39 11 22.00 22 0 0.00 ACADL 33 genome.wustl.edu 37 2 211053739 211053739 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211053739 211053739 A G SNP ACADL ENST00000233710 human ensembl 70_37 -1 known silent c.1239 p.G413 0.875 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 16 3 15.79 42 0 0.00 ACADM 34 genome.wustl.edu 37 1 76200550 76200550 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 76200550 76200550 G C SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.474 p.L158F 0.285 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 43 41 48.81 66 0 0.00 ACADM 34 genome.wustl.edu 37 1 76226834 76226834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226834 76226834 G T SNP ACADM ENST00000420607 human ensembl 70_37 +1 known nonsense c.985 p.E329* 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 23 22 48.89 29 0 0.00 ACADM 34 genome.wustl.edu 37 1 76226875 76226875 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226875 76226875 G T SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.1026 p.Q342H 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 20 17 45.95 35 0 0.00 ACADM 34 genome.wustl.edu 37 1 76226877 76226877 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226877 76226877 G A SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.1028 p.R343K 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 20 17 45.95 35 0 0.00 ACADM 34 genome.wustl.edu 37 1 76226983 76226983 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226983 76226983 G A SNP ACADM ENST00000420607 human ensembl 70_37 +1 known silent c.1134 p.Q378 0.997 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 14 12 46.15 28 0 0.00 ACADS 35 genome.wustl.edu 37 12 121175684 121175684 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 121175684 121175684 G A SNP ACADS ENST00000242592 human ensembl 70_37 +1 known missense c.517 p.E173K 0.964 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 31 16 34.04 69 0 0.00 ACADS 35 genome.wustl.edu 37 12 121175948 121175948 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 121175948 121175948 C G SNP ACADS ENST00000411593 human ensembl 70_37 +1 novel missense c.569 p.P190R 0.003 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase - no_errors ACADS HGNC ENSG00000122971 22 4 15.38 31 0 0.00 ACADS 35 genome.wustl.edu 37 12 121176978 121176978 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 121176978 121176978 C T SNP ACADS ENST00000242592 human ensembl 70_37 +1 known silent c.1065 p.A355 0.911 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 43 39 46.99 84 0 0.00 ACADS 35 genome.wustl.edu 37 12 121177133 121177133 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 121177133 121177133 C G SNP ACADS ENST00000242592 human ensembl 70_37 +1 known missense c.1121 p.T374R 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 28 18 39.13 32 0 0.00 ACADSB 36 genome.wustl.edu 37 10 124800817 124800817 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 124800817 124800817 C T SNP ACADSB ENST00000358776 human ensembl 70_37 +1 known silent c.603 p.L201 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 20 14 41.18 48 0 0.00 ACADVL 37 genome.wustl.edu 37 17 7125395 7125395 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7125395 7125395 G A SNP ACADVL ENST00000356839 human ensembl 70_37 +1 known nonsense c.747 p.W249* 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 153 33 17.74 198 0 0.00 ACADVL 37 genome.wustl.edu 37 17 7128316 7128316 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 7128316 7128316 C G SNP ACADVL ENST00000356839 human ensembl 70_37 +1 known missense c.1868 p.S623C 0.995 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 23 3 11.54 35 0 0.00 ACAN 176 genome.wustl.edu 37 15 89381937 89381937 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 89381937 89381937 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known silent c.114 p.P38 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 18 29 61.70 69 0 0.00 ACAN 176 genome.wustl.edu 37 15 89386651 89386651 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 89386651 89386651 C T SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.823 p.R275W 0.996 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 35 4 10.26 29 0 0.00 ACAN 176 genome.wustl.edu 37 15 89386861 89386861 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 89386861 89386861 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.1033 p.D345N 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 26 4 13.33 22 0 0.00 ACAN 176 genome.wustl.edu 37 15 89391202 89391202 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 89391202 89391202 C T SNP ACAN ENST00000439576 human ensembl 70_37 +1 known silent c.1665 p.V555 0.962 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 121 45 27.11 174 0 0.00 ACAN 176 genome.wustl.edu 37 15 89400951 89400951 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 89400951 89400951 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.5135 p.G1712E 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 39 17 30.36 88 0 0.00 ACAN 176 genome.wustl.edu 37 15 89401545 89401545 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 89401545 89401545 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.5729 p.R1910K 0.998 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 18 16 47.06 41 0 0.00 ACAN 176 genome.wustl.edu 37 15 89402424 89402424 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 89402424 89402424 C G SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.6608 p.S2203C 0.997 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 23 14 37.84 34 0 0.00 ACAN 176 genome.wustl.edu 37 15 89415302 89415302 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 89415302 89415302 G C SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.7174 p.D2392H 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 18 12 40.00 37 0 0.00 ACAN 176 genome.wustl.edu 37 15 89416118 89416118 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 89416118 89416118 G C SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.7195 p.E2399Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 19 9 32.14 17 0 0.00 ACAP1 9744 genome.wustl.edu 37 17 7252323 7252323 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 7252323 7252323 C T SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.1688 p.S563F 0.991 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 186 64 25.60 263 0 0.00 ACAP1 9744 genome.wustl.edu 37 17 7252471 7252471 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 7252471 7252471 C G SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.1836 p.I612M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 72 28 28.00 102 0 0.00 ACAP1 9744 genome.wustl.edu 37 17 7253489 7253489 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 7253489 7253489 C G SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.2005 p.R669G 0.221 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 90 34 27.42 134 0 0.00 ACAP2 23527 genome.wustl.edu 37 3 195016553 195016553 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195016553 195016553 G T SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known nonsense c.1556 p.S519* 0.032 smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 13 3 18.75 11 0 0.00 ACAP2 23527 genome.wustl.edu 37 3 195022341 195022341 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 195022341 195022341 G C SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known missense c.1358 p.S453C 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 173 29 14.29 125 0 0.00 ACAP2 23527 genome.wustl.edu 37 3 195022848 195022848 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 195022848 195022848 G A SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known missense c.1172 p.S391F 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 23 6 20.69 15 0 0.00 ACAP3 116983 genome.wustl.edu 37 1 1231134 1231134 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 1231134 1231134 C G SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.1561 p.V521L 0.016 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 44 5 10.20 36 0 0.00 ACAP3 116983 genome.wustl.edu 37 1 1235269 1235269 + Missense_Mutation SNP A A C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 1235269 1235269 A C SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.554 p.I185S 1.000 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 16 5 23.81 18 0 0.00 ACAP3 116983 genome.wustl.edu 37 1 1238334 1238334 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1238334 1238334 C T SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.121 p.D41N 1.000 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 46 13 22.03 72 0 0.00 ACAT1 38 genome.wustl.edu 37 11 108016992 108016992 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 108016992 108016992 A T SNP ACAT1 ENST00000265838 human ensembl 70_37 +1 known missense c.1069 p.S357C 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 27 5 15.62 62 0 0.00 ACAT1 38 genome.wustl.edu 37 11 108018080 108018080 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 108018080 108018080 G A SNP ACAT1 ENST00000265838 human ensembl 70_37 +1 known missense c.1247 p.G416E 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 59 40 40.40 51 0 0.00 ACAT2 39 genome.wustl.edu 37 6 160183958 160183958 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 160183958 160183958 C A SNP ACAT2 ENST00000541436 human ensembl 70_37 +1 known missense c.150 p.F50L 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 10 26 72.22 34 0 0.00 ACAT2 39 genome.wustl.edu 37 6 160196400 160196400 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160196400 160196400 C G SNP ACAT2 ENST00000472052 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACAT2 HGNC ENSG00000120437 15 7 31.82 25 0 0.00 ACBD3 64746 genome.wustl.edu 37 1 226353582 226353582 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 226353582 226353582 C G SNP ACBD3 ENST00000366812 human ensembl 70_37 -1 known missense c.406 p.D136H 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 35 6 14.63 43 0 0.00 ACBD4 79777 genome.wustl.edu 37 17 43213571 43213571 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43213571 43213571 G A SNP ACBD4 ENST00000431281 human ensembl 70_37 +1 known silent c.60 p.V20 0.803 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 41 16 28.07 39 0 0.00 ACBD4 79777 genome.wustl.edu 37 17 43214086 43214086 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 43214086 43214086 G A SNP ACBD4 ENST00000431281 human ensembl 70_37 +1 known missense c.237 p.M79I 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 50 19 27.14 82 0 0.00 ACBD5 91452 genome.wustl.edu 37 10 27486362 27486362 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 27486362 27486362 G T SNP ACBD5 ENST00000375888 human ensembl 70_37 -1 known missense c.1602 p.N534K 1.000 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 31 4 11.43 36 0 0.00 ACCSL 390110 genome.wustl.edu 37 11 44069823 44069823 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 44069823 44069823 C T SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.237 p.I79 0.001 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ENSG00000205126 22 14 38.89 39 0 0.00 ACCSL 390110 genome.wustl.edu 37 11 44074225 44074225 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 44074225 44074225 C T SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.786 p.V262 0.995 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ENSG00000205126 61 20 24.69 99 0 0.00 ACCSL 390110 genome.wustl.edu 37 11 44077812 44077812 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 44077812 44077812 T C SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.1263 p.F421 0.962 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ENSG00000205126 49 28 36.36 117 0 0.00 ACCSL 390110 genome.wustl.edu 37 11 44079866 44079866 + Splice_Site SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 44079866 44079866 G C SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known splice_site c.1328-1 e12-1 1.000 - - - no_errors ACCSL HGNC ENSG00000205126 27 20 42.55 58 0 0.00 ACD 65057 genome.wustl.edu 37 16 67692539 67692539 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 67692539 67692539 C T SNP ACD ENST00000219251 human ensembl 70_37 -1 known missense c.997 p.E333K 0.011 NULL pfam_Telomere_Pot1 - no_errors ACD HGNC ENSG00000102977 33 14 29.79 29 0 0.00 ACD 65057 genome.wustl.edu 37 16 67692860 67692860 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 67692860 67692860 G A SNP ACD ENST00000219251 human ensembl 70_37 -1 known missense c.865 p.H289Y 0.034 NULL pfam_Telomere_Pot1 - no_errors ACD HGNC ENSG00000102977 9 7 43.75 18 0 0.00 ACE 1636 genome.wustl.edu 37 17 61557756 61557756 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 61557756 61557756 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.714 p.D238 0.987 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 69 15 17.86 78 0 0.00 ACE 1636 genome.wustl.edu 37 17 61559097 61559097 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 61559097 61559097 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.1116 p.F372 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 31 68 68.69 75 0 0.00 ACE 1636 genome.wustl.edu 37 17 61568382 61568382 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 61568382 61568382 G C SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.2709 p.S903 0.205 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 31 21 40.38 28 0 0.00 ACE 1636 genome.wustl.edu 37 17 61574500 61574500 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 61574500 61574500 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known missense c.3694 p.R1232C 0.295 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 20 9 31.03 34 0 0.00 ACHE 43 genome.wustl.edu 37 7 100490160 100490160 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 100490160 100490160 C T SNP ACHE ENST00000302913 human ensembl 70_37 -1 known missense c.1348 p.A450T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 25 24 48.00 71 0 0.00 ACHE 43 genome.wustl.edu 37 7 100491481 100491481 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100491481 100491481 C G SNP ACHE ENST00000302913 human ensembl 70_37 -1 known missense c.373 p.E125Q 0.999 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 47 30 38.96 65 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23528476 23528476 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 23528476 23528476 C T SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.3907 p.D1303N 0.982 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 27 7 20.59 66 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23532260 23532260 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23532260 23532260 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known nonsense c.2935 p.R979* 0.741 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 28 9 24.32 33 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23533373 23533373 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23533373 23533373 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.2710 p.R904C 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 27 18 40.00 58 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23537773 23537773 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 23537773 23537773 G T SNP ACIN1 ENST00000555352 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ACIN1 HGNC ENSG00000100813 28 4 12.50 37 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23548958 23548958 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 23548958 23548958 G C SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.1760 p.S587C 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 20 6 23.08 57 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23551033 23551033 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23551033 23551033 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.623 p.S208L 0.785 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 42 17 28.33 40 0 0.00 ACIN1 22985 genome.wustl.edu 37 14 23564376 23564376 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 23564376 23564376 C G SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known silent c.120 p.R40 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 109 47 29.94 94 0 0.00 ACLY 47 genome.wustl.edu 37 17 40025361 40025361 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 40025361 40025361 C T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known silent c.3069 p.L1023 1.000 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 20 12 37.50 26 0 0.00 ACLY 47 genome.wustl.edu 37 17 40054047 40054047 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 40054047 40054047 C T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.1384 p.D462N 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 31 5 13.89 46 0 0.00 ACLY 47 genome.wustl.edu 37 17 40061806 40061806 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 40061806 40061806 G C SNP ACLY ENST00000352035 human ensembl 70_37 -1 known silent c.972 p.L324 0.877 superfamily_Succinyl-CoA_synth-like,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 24 34 58.62 75 0 0.00 ACLY 47 genome.wustl.edu 37 17 40069970 40069970 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 40069970 40069970 G T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.157 p.Q53K 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 16 3 15.79 25 0 0.00 ACLY 47 genome.wustl.edu 37 17 40070105 40070105 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 40070105 40070105 C G SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.22 p.E8Q 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 133 30 18.29 157 0 0.00 ACMSD 130013 genome.wustl.edu 37 2 135628535 135628535 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 135628535 135628535 G A SNP ACMSD ENST00000356140 human ensembl 70_37 +1 known missense c.581 p.G194E 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 45 23 33.82 79 0 0.00 ACO1 48 genome.wustl.edu 37 9 32418333 32418333 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 32418333 32418333 C T SNP ACO1 ENST00000309951 human ensembl 70_37 +1 known missense c.482 p.S161F 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 64 14 17.95 124 0 0.00 ACO1 48 genome.wustl.edu 37 9 32419137 32419137 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 32419137 32419137 C G SNP ACO1 ENST00000309951 human ensembl 70_37 +1 known missense c.760 p.L254V 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 43 6 12.24 78 0 0.00 ACOT1 641371 genome.wustl.edu 37 14 74009782 74009782 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 74009782 74009782 G A SNP ACOT1 ENST00000311148 human ensembl 70_37 +1 known missense c.689 p.G230E 0.972 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 38 9 19.15 86 0 0.00 ACOT12 134526 genome.wustl.edu 37 5 80626308 80626308 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 80626308 80626308 G C SNP ACOT12 ENST00000307624 human ensembl 70_37 -1 known missense c.1573 p.L525V 0.997 NULL pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT12 HGNC ENSG00000172497 86 28 24.56 117 0 0.00 ACOT12 134526 genome.wustl.edu 37 5 80626633 80626633 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 80626633 80626633 G A SNP ACOT12 ENST00000307624 human ensembl 70_37 -1 known silent c.1518 p.I506 0.185 pfam_START_lipid-bd,pfscan_START_lipid-bd pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT12 HGNC ENSG00000172497 92 13 12.26 98 0 0.00 ACOT13 55856 genome.wustl.edu 37 6 24701842 24701842 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 24701842 24701842 G A SNP ACOT13 ENST00000230048 human ensembl 70_37 +1 known silent c.422 p.*141 0.949 NULL pfam_Thioestr_supf,tigrfam_PAAI_dom - no_errors ACOT13 HGNC ENSG00000112304 13 4 23.53 17 0 0.00 ACOT2 10965 genome.wustl.edu 37 14 74036564 74036564 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74036564 74036564 G C SNP ACOT2 ENST00000238651 human ensembl 70_37 +1 known missense c.620 p.R207P 0.965 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 26 14 35.00 56 0 0.00 ACOT2 10965 genome.wustl.edu 37 14 74041640 74041640 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 74041640 74041640 G A SNP ACOT2 ENST00000238651 human ensembl 70_37 +1 known missense c.875 p.G292E 0.990 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 44 16 26.67 75 0 0.00 ACOT7 11332 genome.wustl.edu 37 1 6399596 6399596 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 6399596 6399596 G A SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known silent c.345 p.P115 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 54 12 18.18 54 0 0.00 ACOT7 11332 genome.wustl.edu 37 1 6399616 6399616 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 6399616 6399616 G A SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known missense c.325 p.R109C 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 52 24 31.17 68 0 0.00 ACOT7 11332 genome.wustl.edu 37 1 6409872 6409872 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 6409872 6409872 G C SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known missense c.228 p.I76M 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 25 17 40.48 31 0 0.00 ACOT8 10005 genome.wustl.edu 37 20 44485852 44485852 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 44485852 44485852 C G SNP ACOT8 ENST00000217455 human ensembl 70_37 -1 known missense c.103 p.E35Q 1.000 tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 45 22 32.84 55 0 0.00 ACOT9 23597 genome.wustl.edu 37 X 23722844 23722844 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 23722844 23722844 C G SNP ACOT9 ENST00000379303 human ensembl 70_37 -1 known missense c.1225 p.E409Q 0.998 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 50 15 23.08 46 0 0.00 ACOX1 51 genome.wustl.edu 37 17 73945634 73945634 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73945634 73945634 C T SNP ACOX1 ENST00000293217 human ensembl 70_37 -1 known missense c.1526 p.R509K 1.000 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 8 24 75.00 50 0 0.00 ACOX1 51 genome.wustl.edu 37 17 73975168 73975168 + RNA SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 73975168 73975168 T G SNP ACOX1 ENST00000591857 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ACOX1 HGNC ENSG00000161533 70 8 10.26 58 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58490952 58490952 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 58490952 58490952 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known nonstop c.2045 p.*682S 0.999 NULL pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 50 12 19.35 32 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58490952 58490952 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 58490952 58490952 C T SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.2045 p.*682 0.999 NULL pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 64 31 32.63 60 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58508292 58508292 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58508292 58508292 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.1563 p.L521 0.952 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 39 21 35.00 60 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58510215 58510215 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58510215 58510215 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known missense c.1464 p.Q488H 0.928 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 59 33 35.87 62 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58516240 58516240 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 58516240 58516240 G A SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.945 p.I315 0.998 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 50 19 27.14 98 0 0.00 ACOX2 8309 genome.wustl.edu 37 3 58517055 58517055 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 58517055 58517055 C T SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known missense c.742 p.D248N 0.965 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 80 32 28.57 138 1 0.72 ACOX3 8310 genome.wustl.edu 37 4 8396463 8396463 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 8396463 8396463 G A SNP ACOX3 ENST00000356406 human ensembl 70_37 -1 known missense c.1063 p.R355C 1.000 pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 23 8 25.81 25 0 0.00 ACOX3 8310 genome.wustl.edu 37 4 8417621 8417621 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 8417621 8417621 G A SNP ACOX3 ENST00000356406 human ensembl 70_37 -1 known missense c.250 p.R84W 0.001 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 44 19 30.16 80 0 0.00 ACP1 52 genome.wustl.edu 37 2 272070 272070 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 272070 272070 G C SNP ACP1 ENST00000272065 human ensembl 70_37 +1 known missense c.151 p.E51Q 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 65 27 29.35 82 0 0.00 ACP1 52 genome.wustl.edu 37 2 277245 277245 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 277245 277245 G C SNP ACP1 ENST00000272065 human ensembl 70_37 +1 known missense c.418 p.E140Q 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 131 41 23.84 147 0 0.00 ACP5 54 genome.wustl.edu 37 19 11685947 11685947 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 11685947 11685947 C T SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known missense c.856 p.E286K 0.004 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 31 18 36.73 29 0 0.00 ACP5 54 genome.wustl.edu 37 19 11685947 11685947 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 11685947 11685947 C T SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known missense c.856 p.E286K 0.004 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 44 24 35.29 99 0 0.00 ACP5 54 genome.wustl.edu 37 19 11685968 11685968 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11685968 11685968 G A SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known silent c.835 p.L279 1.000 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 16 16 50.00 21 0 0.00 ACP6 51205 genome.wustl.edu 37 1 147120085 147120085 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 147120085 147120085 G A SNP ACP6 ENST00000369238 human ensembl 70_37 -1 known missense c.1106 p.S369F 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ENSG00000162836 105 15 12.50 129 0 0.00 ACPL2 92370 genome.wustl.edu 37 3 141011697 141011697 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 141011697 141011697 G A SNP ACPL2 ENST00000286353 human ensembl 70_37 +1 known missense c.1093 p.E365K 0.018 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 11 16 59.26 27 0 0.00 ACPL2 92370 genome.wustl.edu 37 3 141011882 141011882 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 141011882 141011882 C T SNP ACPL2 ENST00000286353 human ensembl 70_37 +1 known silent c.1278 p.V426 0.007 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 12 39 76.47 41 0 0.00 ACPT 93650 genome.wustl.edu 37 19 51295547 51295547 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51295547 51295547 G A SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 27 12 30.77 26 0 0.00 ACPT 93650 genome.wustl.edu 37 19 51297070 51297070 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 51297070 51297070 G A SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.496 p.G166R 0.998 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 28 29 50.88 47 0 0.00 ACPT 93650 genome.wustl.edu 37 19 51297831 51297831 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 51297831 51297831 G C SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.700 p.D234H 0.001 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 65 13 16.67 54 0 0.00 ACPT 93650 genome.wustl.edu 37 19 51298186 51298186 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 51298186 51298186 C T SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.851 p.S284F 0.990 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 37 20 35.09 53 0 0.00 ACPT 93650 genome.wustl.edu 37 19 51298351 51298351 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 51298351 51298351 G C SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.938 p.S313T 0.914 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 31 20 39.22 22 0 0.00 ACR 49 genome.wustl.edu 37 22 51182581 51182581 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 51182581 51182581 C T SNP ACR ENST00000216139 human ensembl 70_37 +1 known nonsense c.658 p.Q220* 0.010 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ENSG00000100312 75 19 20.00 67 0 0.00 ACR 49 genome.wustl.edu 37 22 51183025 51183025 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 51183025 51183025 C G SNP ACR ENST00000527761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACR HGNC ENSG00000100312 14 16 53.33 26 0 0.00 ACR 49 genome.wustl.edu 37 22 51183025 51183025 + RNA SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 51183025 51183025 C T SNP ACR ENST00000527761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACR HGNC ENSG00000100312 10 4 28.57 28 0 0.00 ACR 49 genome.wustl.edu 37 22 51183146 51183146 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 51183146 51183146 C T SNP ACR ENST00000216139 human ensembl 70_37 +1 known silent c.777 p.I259 0.829 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ENSG00000100312 22 5 18.52 24 0 0.00 ACRBP 84519 genome.wustl.edu 37 12 6752714 6752714 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 6752714 6752714 G A SNP ACRBP ENST00000229243 human ensembl 70_37 -1 known silent c.1068 p.F356 0.838 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 55 33 35.48 130 1 0.73 ACRBP 84519 genome.wustl.edu 37 12 6754443 6754443 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 6754443 6754443 C G SNP ACRBP ENST00000229243 human ensembl 70_37 -1 known missense c.418 p.A140P 0.000 pfam_Proacrosin-bd pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 65 11 14.47 73 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70824020 70824020 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 70824020 70824020 G A SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.893 p.S298N 0.026 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 198 22 10.00 140 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70824021 70824021 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 70824021 70824021 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.894 p.S298R 0.010 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 198 22 10.00 139 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70824092 70824092 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70824092 70824092 C T SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.965 p.S322L 0.002 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 25 8 24.24 42 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70824305 70824305 + Nonsense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70824305 70824305 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known nonsense c.1178 p.S393* 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 36 7 16.28 50 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70828885 70828885 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 70828885 70828885 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.1529 p.S510C 0.149 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 82 13 13.68 75 0 0.00 ACRC 93953 genome.wustl.edu 37 X 70832407 70832407 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 70832407 70832407 G A SNP ACRC ENST00000373695 human ensembl 70_37 +1 known silent c.1953 p.T651 0.932 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 68 18 20.93 42 0 0.00 ACRV1 56 genome.wustl.edu 37 11 125546339 125546339 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125546339 125546339 C T SNP ACRV1 ENST00000533904 human ensembl 70_37 -1 known missense c.588 p.M196I 1.000 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 38 29 42.65 55 0 0.00 ACSBG1 23205 genome.wustl.edu 37 15 78466844 78466844 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 15 78466844 78466844 C T SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known silent c.1725 p.G575 0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 44 6 12.00 38 0 0.00 ACSBG1 23205 genome.wustl.edu 37 15 78471012 78471012 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 78471012 78471012 C T SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.1646 p.G549D 0.991 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 4 15 78.95 51 0 0.00 ACSBG1 23205 genome.wustl.edu 37 15 78473179 78473179 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 78473179 78473179 C T SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.1171 p.A391T 0.968 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 25 4 13.79 30 0 0.00 ACSBG1 23205 genome.wustl.edu 37 15 78485950 78485950 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 78485950 78485950 G C SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.561 p.I187M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 59 33 35.87 91 0 0.00 ACSBG1 23205 genome.wustl.edu 37 15 78486929 78486929 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 78486929 78486929 G C SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.372 p.F124L 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 38 10 20.83 102 0 0.00 ACSBG2 81616 genome.wustl.edu 37 19 6156561 6156561 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 6156561 6156561 C T SNP ACSBG2 ENST00000252669 human ensembl 70_37 +1 known missense c.506 p.S169L 0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 23 12 34.29 38 0 0.00 ACSBG2 81616 genome.wustl.edu 37 19 6183146 6183146 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 6183146 6183146 C T SNP ACSBG2 ENST00000252669 human ensembl 70_37 +1 known silent c.1185 p.I395 0.955 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 91 13 12.50 94 0 0.00 ACSF2 80221 genome.wustl.edu 37 17 48538695 48538695 + Silent SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 48538695 48538695 C G SNP ACSF2 ENST00000300441 human ensembl 70_37 +1 known silent c.417 p.L139 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 40 8 16.67 32 0 0.00 ACSF2 80221 genome.wustl.edu 37 17 48539018 48539018 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 48539018 48539018 G A SNP ACSF2 ENST00000300441 human ensembl 70_37 +1 known missense c.478 p.A160T 0.483 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 26 14 35.00 28 0 0.00 ACSF2 80221 genome.wustl.edu 37 17 48541643 48541643 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 48541643 48541643 G C SNP ACSF2 ENST00000300441 human ensembl 70_37 +1 known missense c.1203 p.M401I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 30 18 37.50 38 0 0.00 ACSF3 197322 genome.wustl.edu 37 16 89212381 89212381 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 89212381 89212381 G A SNP ACSF3 ENST00000317447 human ensembl 70_37 +1 known missense c.1537 p.G513S 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 34 27 44.26 85 0 0.00 ACSL1 2180 genome.wustl.edu 37 4 185683650 185683650 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 185683650 185683650 G A SNP ACSL1 ENST00000281455 human ensembl 70_37 -1 known nonsense c.1549 p.Q517* 0.410 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 68 71 51.08 131 0 0.00 ACSL3 2181 genome.wustl.edu 37 2 223787797 223787797 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 223787797 223787797 C G SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 22 15 40.54 47 0 0.00 ACSL3 2181 genome.wustl.edu 37 2 223789179 223789179 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 223789179 223789179 C T SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known silent c.1158 p.I386 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 7 23 76.67 36 0 0.00 ACSL3 2181 genome.wustl.edu 37 2 223789234 223789234 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 223789234 223789234 C T SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known nonsense c.1213 p.Q405* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 57 16 21.92 70 0 0.00 ACSL4 2182 genome.wustl.edu 37 X 108887380 108887380 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 108887380 108887380 G C SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.2014 p.R672G 0.994 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 56 12 17.65 60 0 0.00 ACSL4 2182 genome.wustl.edu 37 X 108904801 108904801 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108904801 108904801 C A SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.1779 p.K593N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 16 15 48.39 25 0 0.00 ACSL4 2182 genome.wustl.edu 37 X 108906587 108906587 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108906587 108906587 C T SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.1558 p.V520I 0.760 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 7 2 22.22 23 0 0.00 ACSL4 2182 genome.wustl.edu 37 X 108911444 108911444 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 108911444 108911444 C A SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known nonsense c.1324 p.G442* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 46 8 14.81 46 0 0.00 ACSL4 2182 genome.wustl.edu 37 X 108924278 108924278 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 108924278 108924278 C G SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.727 p.E243Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 37 20 35.09 64 0 0.00 ACSL5 51703 genome.wustl.edu 37 10 114169418 114169418 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 114169418 114169418 A C SNP ACSL5 ENST00000356116 human ensembl 70_37 +1 known missense c.854 p.E285A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 31 4 11.43 29 0 0.00 ACSL5 51703 genome.wustl.edu 37 10 114171226 114171226 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 114171226 114171226 G A SNP ACSL5 ENST00000356116 human ensembl 70_37 +1 known missense c.977 p.G326E 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 17 4 19.05 27 0 0.00 ACSL6 23305 genome.wustl.edu 37 5 131326618 131326618 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 131326618 131326618 G C SNP ACSL6 ENST00000296869 human ensembl 70_37 -1 known missense c.313 p.Q105E 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 57 26 31.33 153 0 0.00 ACSM1 116285 genome.wustl.edu 37 16 20682921 20682921 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 20682921 20682921 C G SNP ACSM1 ENST00000307493 human ensembl 70_37 -1 known silent c.684 p.G228 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 65 33 33.67 91 0 0.00 ACSM1 116285 genome.wustl.edu 37 16 20682933 20682933 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 20682933 20682933 G A SNP ACSM1 ENST00000307493 human ensembl 70_37 -1 known silent c.672 p.F224 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 42 34 44.74 66 0 0.00 ACSM2A 123876 genome.wustl.edu 37 16 20481025 20481025 + Missense_Mutation SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 20481025 20481025 T A SNP ACSM2A ENST00000219054 human ensembl 70_37 +1 known missense c.580 p.F194I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 49 38 43.68 63 0 0.00 ACSM2A 123876 genome.wustl.edu 37 16 20492226 20492226 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 20492226 20492226 G C SNP ACSM2A ENST00000219054 human ensembl 70_37 +1 known missense c.1492 p.D498H 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 52 8 13.33 68 0 0.00 ACSM2B 348158 genome.wustl.edu 37 16 20548639 20548639 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 20548639 20548639 G A SNP ACSM2B ENST00000329697 human ensembl 70_37 -1 known nonsense c.1675 p.Q559* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 81 42 34.15 155 0 0.00 ACSM2B 348158 genome.wustl.edu 37 16 20548681 20548681 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 20548681 20548681 C G SNP ACSM2B ENST00000329697 human ensembl 70_37 -1 known missense c.1633 p.E545Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 66 22 25.00 160 0 0.00 ACSM2B 348158 genome.wustl.edu 37 16 20559410 20559410 + Nonsense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 16 20559410 20559410 G A SNP ACSM2B ENST00000329697 human ensembl 70_37 -1 known nonsense c.1072 p.R358* 0.963 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 42 7 14.29 54 0 0.00 ACSM3 6296 genome.wustl.edu 37 16 20808273 20808273 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 20808273 20808273 G C SNP ACSM3 ENST00000289416 human ensembl 70_37 +1 known missense c.1740 p.K580N 0.771 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 15 9 37.50 47 0 0.00 ACSM3 6296 genome.wustl.edu 37 16 20808370 20808370 + RNA SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 16 20808370 20808370 G A SNP ACSM3 ENST00000567711 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACSM3 HGNC ENSG00000005187 9 5 35.71 14 0 0.00 ACSM4 341392 genome.wustl.edu 37 12 7475902 7475902 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7475902 7475902 G C SNP ACSM4 ENST00000399422 human ensembl 70_37 +1 novel missense c.1198 p.D400H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 64 24 27.27 64 0 0.00 ACSM4 341392 genome.wustl.edu 37 12 7476146 7476146 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 7476146 7476146 C T SNP ACSM4 ENST00000399422 human ensembl 70_37 +1 novel missense c.1298 p.S433F 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 9 7 43.75 18 0 0.00 ACSM5 54988 genome.wustl.edu 37 16 20441034 20441034 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 20441034 20441034 G A SNP ACSM5 ENST00000331849 human ensembl 70_37 +1 known missense c.1036 p.G346R 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 71 38 34.86 54 0 0.00 ACSM5 54988 genome.wustl.edu 37 16 20451221 20451221 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 20451221 20451221 C A SNP ACSM5 ENST00000331849 human ensembl 70_37 +1 known missense c.1636 p.P546T 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 36 4 10.00 84 0 0.00 ACSS1 84532 genome.wustl.edu 37 20 24994643 24994643 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 24994643 24994643 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.1406 p.A469V 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 34 9 20.93 51 0 0.00 ACSS1 84532 genome.wustl.edu 37 20 25000666 25000666 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 25000666 25000666 G C SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.1226 p.S409C 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 15 10 40.00 22 0 0.00 ACSS1 84532 genome.wustl.edu 37 20 25038481 25038481 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 25038481 25038481 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known silent c.258 p.P86 0.807 pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 17 16 48.48 30 0 0.00 ACSS1 84532 genome.wustl.edu 37 20 25038603 25038603 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25038603 25038603 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.136 p.P46S 0.744 NULL pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 13 6 31.58 22 0 0.00 ACSS2 55902 genome.wustl.edu 37 20 33500927 33500927 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33500927 33500927 C G SNP ACSS2 ENST00000360596 human ensembl 70_37 +1 known missense c.403 p.Q135E 0.988 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS2 HGNC ENSG00000131069 276 51 15.55 356 0 0.00 ACSS2 55902 genome.wustl.edu 37 20 33513535 33513535 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 33513535 33513535 C T SNP ACSS2 ENST00000480978 human ensembl 70_37 +1 known missense c.518 p.S173L 1.000 NULL pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS2 HGNC ENSG00000131069 71 13 15.48 76 0 0.00 ACSS3 79611 genome.wustl.edu 37 12 81503391 81503391 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 81503391 81503391 G C SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 pfam_Acyl-CoA_synth_DUF3448 pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 29 17 36.96 38 0 0.00 ACSS3 79611 genome.wustl.edu 37 12 81568569 81568569 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 81568569 81568569 G A SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known silent c.1101 p.G367 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 36 16 30.77 59 0 0.00 ACSS3 79611 genome.wustl.edu 37 12 81627245 81627245 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 81627245 81627245 G A SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known missense c.1714 p.E572K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 59 11 15.71 84 0 0.00 ACTA1 58 genome.wustl.edu 37 1 229567610 229567610 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229567610 229567610 C T SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known missense c.848 p.S283N 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ENSG00000143632 30 14 31.82 55 0 0.00 ACTA1 58 genome.wustl.edu 37 1 229568027 229568027 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 229568027 229568027 G A SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known silent c.606 p.F202 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ENSG00000143632 21 6 22.22 30 0 0.00 ACTA1 58 genome.wustl.edu 37 1 229568794 229568794 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 229568794 229568794 G A SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known silent c.69 p.F23 0.952 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ENSG00000143632 78 9 10.34 110 0 0.00 ACTB 60 genome.wustl.edu 37 7 5566884 5566884 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5566884 5566884 C T SNP ACTB ENST00000464611 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors ACTB HGNC ENSG00000075624 30 9 22.50 29 0 0.00 ACTB 60 genome.wustl.edu 37 7 5567197 5567197 + RNA SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 5567197 5567197 C G SNP ACTB ENST00000464611 human ensembl 70_37 -1 known rna NULL NULL 0.162 - - - no_errors ACTB HGNC ENSG00000075624 26 15 36.59 69 0 0.00 ACTB 60 genome.wustl.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5567464 5567464 G C SNP ACTB ENST00000331789 human ensembl 70_37 -1 known missense c.1043 p.S348W 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ENSG00000075624 73 49 40.16 95 0 0.00 ACTB 60 genome.wustl.edu 37 7 5568000 5568000 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 5568000 5568000 C G SNP ACTB ENST00000331789 human ensembl 70_37 -1 known missense c.714 p.K238N 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ENSG00000075624 61 23 27.38 86 0 0.00 ACTBL2 345651 genome.wustl.edu 37 5 56778051 56778051 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 56778051 56778051 G C SNP ACTBL2 ENST00000423391 human ensembl 70_37 -1 known missense c.484 p.H162D 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ENSG00000169067 30 7 18.92 38 0 0.00 ACTBL2 345651 genome.wustl.edu 37 5 56778417 56778417 + Nonsense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 56778417 56778417 G A SNP ACTBL2 ENST00000423391 human ensembl 70_37 -1 known nonsense c.118 p.R40* 0.999 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ENSG00000169067 73 14 16.09 87 0 0.00 ACTBP12 100462767 genome.wustl.edu 37 1 92694325 92694325 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 92694325 92694325 C G SNP ACTBP12 ENST00000594933 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ACTBP12 HGNC ENSG00000233125 18 10 35.71 22 0 0.00 ACTBP12 100462767 genome.wustl.edu 37 1 92694442 92694442 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 92694442 92694442 A G SNP ACTBP12 ENST00000594933 human ensembl 70_37 -1 known rna NULL NULL 0.113 - - - no_errors ACTBP12 HGNC ENSG00000233125 8 6 42.86 18 0 0.00 ACTC1 70 genome.wustl.edu 37 15 35085533 35085533 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 35085533 35085533 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ENSG00000159251 52 32 38.10 70 0 0.00 ACTC1 70 genome.wustl.edu 37 15 35086895 35086895 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 35086895 35086895 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ENSG00000159251 24 17 41.46 57 0 0.00 ACTC1 70 genome.wustl.edu 37 15 35086922 35086922 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 35086922 35086922 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.88 p.R30C 0.997 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ENSG00000159251 37 11 22.92 37 0 0.00 ACTC1 70 genome.wustl.edu 37 15 35086946 35086946 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 35086946 35086946 C T SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.64 p.G22S 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ENSG00000159251 76 29 27.62 50 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79478259 79478259 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 79478259 79478259 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.757 p.E253K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 63 14 18.18 60 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79478443 79478443 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79478443 79478443 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known silent c.573 p.K191 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 70 24 25.53 122 1 0.81 ACTG1 71 genome.wustl.edu 37 17 79478517 79478517 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 79478517 79478517 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.499 p.E167K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 23 16 41.03 53 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79479009 79479009 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 79479009 79479009 G A SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.283 p.R95C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 5 19 79.17 45 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79479015 79479015 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 79479015 79479015 C A SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known nonsense c.277 p.E93* 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 41 18 30.51 53 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79479369 79479369 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79479369 79479369 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known silent c.12 p.E4 1.000 pfam_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 48 14 22.58 77 0 0.00 ACTG1 71 genome.wustl.edu 37 17 79479374 79479374 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79479374 79479374 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 pfam_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 48 14 22.58 78 0 0.00 ACTG2 72 genome.wustl.edu 37 2 74129532 74129532 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74129532 74129532 G A SNP ACTG2 ENST00000345517 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG2 HGNC ENSG00000163017 37 30 44.78 95 0 0.00 ACTL10 170487 genome.wustl.edu 37 20 32255523 32255523 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32255523 32255523 C T SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative missense c.220 p.R74C 0.812 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ENSG00000182584 21 7 25.00 13 0 0.00 ACTL10 170487 genome.wustl.edu 37 20 32256027 32256027 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 32256027 32256027 G A SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative missense c.724 p.D242N 0.868 smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ENSG00000182584 76 25 24.75 97 0 0.00 ACTL10 170487 genome.wustl.edu 37 20 32256040 32256040 + Nonstop_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 32256040 32256040 G C SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative nonstop c.737 p.*246S 0.998 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ENSG00000182584 71 16 18.39 86 0 0.00 ACTL6A 86 genome.wustl.edu 37 3 179287873 179287873 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 179287873 179287873 A G SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known missense c.121 p.I41V 0.998 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ENSG00000136518 65 31 32.29 72 0 0.00 ACTL6A 86 genome.wustl.edu 37 3 179294463 179294463 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 179294463 179294463 C T SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known silent c.627 p.L209 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ENSG00000136518 284 36 11.18 188 0 0.00 ACTL6A 86 genome.wustl.edu 37 3 179294466 179294466 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 179294466 179294466 C G SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known missense c.630 p.F210L 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ENSG00000136518 84 22 20.75 38 0 0.00 ACTL6A 86 genome.wustl.edu 37 3 179305797 179305797 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 179305797 179305797 G C SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known nonstop c.1289 p.*430S 1.000 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ENSG00000136518 14 10 41.67 17 0 0.00 ACTL6B 51412 genome.wustl.edu 37 7 100252740 100252740 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 100252740 100252740 C T SNP ACTL6B ENST00000160382 human ensembl 70_37 -1 known missense c.271 p.E91K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 14 27 65.85 43 0 0.00 ACTL7A 10881 genome.wustl.edu 37 9 111625118 111625118 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 111625118 111625118 G A SNP ACTL7A ENST00000333999 human ensembl 70_37 +1 known silent c.516 p.P172 0.402 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC ENSG00000187003 25 4 13.79 29 0 0.00 ACTL7A 10881 genome.wustl.edu 37 9 111625727 111625727 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 111625727 111625727 G A SNP ACTL7A ENST00000333999 human ensembl 70_37 +1 known silent c.1125 p.Q375 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC ENSG00000187003 24 14 36.84 37 0 0.00 ACTL7B 10880 genome.wustl.edu 37 9 111617580 111617580 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 111617580 111617580 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.631 p.E211K 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 22 16 42.11 60 0 0.00 ACTL7B 10880 genome.wustl.edu 37 9 111617580 111617580 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 111617580 111617580 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.631 p.E211K 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 44 6 12.00 55 0 0.00 ACTL7B 10880 genome.wustl.edu 37 9 111617807 111617807 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 111617807 111617807 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.404 p.R135H 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 19 9 32.14 52 0 0.00 ACTL7B 10880 genome.wustl.edu 37 9 111617835 111617835 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 111617835 111617835 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.376 p.V126M 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 10 7 41.18 17 0 0.00 ACTL8 81569 genome.wustl.edu 37 1 18153014 18153014 + Nonstop_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 18153014 18153014 A G SNP ACTL8 ENST00000375406 human ensembl 70_37 +1 known nonstop c.1101 p.*367W 0.022 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL8 HGNC ENSG00000117148 43 6 12.00 49 0 0.00 ACTL9 284382 genome.wustl.edu 37 19 8808989 8808989 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 8808989 8808989 G C SNP ACTL9 ENST00000324436 human ensembl 70_37 -1 known silent c.63 p.G21 0.004 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 82 13 13.54 80 0 0.00 ACTN1 87 genome.wustl.edu 37 14 69349243 69349243 + Nonsense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349243 69349243 C A SNP ACTN1 ENST00000394419 human ensembl 70_37 -1 known nonsense c.1885 p.E629* 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 22 15 40.54 39 0 0.00 ACTN1 87 genome.wustl.edu 37 14 69349243 69349243 + Nonsense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349243 69349243 C A SNP ACTN1 ENST00000394419 human ensembl 70_37 -1 known nonsense c.1885 p.E629* 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 26 16 37.21 29 0 0.00 ACTN1 87 genome.wustl.edu 37 14 69349983 69349983 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69349983 69349983 C G SNP ACTN1 ENST00000556343 human ensembl 70_37 -1 putative rna NULL NULL 0.018 - - - no_errors ACTN1 HGNC ENSG00000072110 20 11 35.48 23 0 0.00 ACTN1 87 genome.wustl.edu 37 14 69350053 69350053 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 69350053 69350053 C T SNP ACTN1 ENST00000556343 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ACTN1 HGNC ENSG00000072110 30 28 48.28 23 0 0.00 ACTN2 88 genome.wustl.edu 37 1 236883473 236883473 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 236883473 236883473 C T SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known nonsense c.430 p.Q144* 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 37 19 33.93 54 0 0.00 ACTN2 88 genome.wustl.edu 37 1 236918438 236918438 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 236918438 236918438 C G SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known missense c.2094 p.D698E 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 49 7 12.50 33 0 0.00 ACTN2 88 genome.wustl.edu 37 1 236925802 236925802 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 236925802 236925802 G A SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known silent c.2568 p.P856 0.035 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 47 14 22.95 63 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39217615 39217615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 39217615 39217615 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known missense c.2209 p.E737K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 49 14 22.22 70 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219659 39219659 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219659 39219659 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2442 p.I814 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 84 15 15.00 129 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219695 39219695 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 39219695 39219695 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2478 p.V826 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 131 28 17.61 209 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219695 39219695 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 39219695 39219695 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2478 p.V826 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 48 7 12.73 32 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219710 39219710 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 39219710 39219710 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2493 p.F831 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 33 33 50.00 82 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219713 39219713 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219713 39219713 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2496 p.I832 0.987 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 100 21 17.36 139 0 0.00 ACTN4 81 genome.wustl.edu 37 19 39219929 39219929 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219929 39219929 G T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known nonsense c.2593 p.E865* 0.999 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 38 5 11.36 52 0 0.00 ACTR1A 10121 genome.wustl.edu 37 10 104243919 104243919 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 104243919 104243919 C G SNP ACTR1A ENST00000369905 human ensembl 70_37 -1 known missense c.655 p.E219Q 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ENSG00000138107 44 19 30.16 87 0 0.00 ACTR1A 10121 genome.wustl.edu 37 10 104244060 104244060 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104244060 104244060 C T SNP ACTR1A ENST00000369905 human ensembl 70_37 -1 known missense c.514 p.E172K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ENSG00000138107 20 17 45.95 53 0 0.00 ACTR1B 10120 genome.wustl.edu 37 2 98275838 98275838 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 98275838 98275838 G A SNP ACTR1B ENST00000289228 human ensembl 70_37 -1 known nonsense c.292 p.Q98* 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1B HGNC ENSG00000115073 24 15 38.46 32 0 0.00 ACTR2 10097 genome.wustl.edu 37 2 65473736 65473736 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 65473736 65473736 C T SNP ACTR2 ENST00000377982 human ensembl 70_37 +1 known nonsense c.253 p.R85* 0.990 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR2 HGNC ENSG00000138071 67 26 27.96 85 0 0.00 ACTR2 10097 genome.wustl.edu 37 2 65473825 65473825 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 65473825 65473825 C T SNP ACTR2 ENST00000377982 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR2 HGNC ENSG00000138071 45 37 45.12 79 0 0.00 ACTR3B 57180 genome.wustl.edu 37 7 152520588 152520588 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 152520588 152520588 C T SNP ACTR3B ENST00000256001 human ensembl 70_37 +1 known silent c.846 p.F282 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR3B HGNC ENSG00000133627 32 26 44.83 47 0 0.00 ACTR5 79913 genome.wustl.edu 37 20 37377191 37377191 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37377191 37377191 G A SNP ACTR5 ENST00000243903 human ensembl 70_37 +1 known missense c.70 p.V24M 0.002 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 8 8 50.00 8 0 0.00 ACTR5 79913 genome.wustl.edu 37 20 37378768 37378768 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 37378768 37378768 G A SNP ACTR5 ENST00000243903 human ensembl 70_37 +1 known missense c.491 p.G164E 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ENSG00000101442 86 45 34.35 83 0 0.00 ACTR6 64431 genome.wustl.edu 37 12 100594632 100594632 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100594632 100594632 G T SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ENSG00000075089 47 30 38.96 53 0 0.00 ACTR6 64431 genome.wustl.edu 37 12 100598771 100598771 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 100598771 100598771 C A SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known missense c.122 p.T41N 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ENSG00000075089 63 7 10.00 48 0 0.00 ACTR6 64431 genome.wustl.edu 37 12 100603861 100603861 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 100603861 100603861 C G SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known silent c.390 p.L130 0.996 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ENSG00000075089 31 9 22.50 51 0 0.00 ACTR6 64431 genome.wustl.edu 37 12 100617638 100617638 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100617638 100617638 G A SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known missense c.1136 p.R379K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ENSG00000075089 27 19 41.30 26 0 0.00 ACTR8 93973 genome.wustl.edu 37 3 53911378 53911378 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 53911378 53911378 G A SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.547 p.H183Y 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ENSG00000113812 69 24 25.81 82 0 0.00 ACTR8 93973 genome.wustl.edu 37 3 53911703 53911703 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 53911703 53911703 G A SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.481 p.H161Y 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ENSG00000113812 26 10 27.78 35 0 0.00 ACTR8 93973 genome.wustl.edu 37 3 53916116 53916116 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 53916116 53916116 C G SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ENSG00000113812 64 24 27.27 76 0 0.00 ACTRT3 84517 genome.wustl.edu 37 3 169486122 169486122 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169486122 169486122 C T SNP ACTRT3 ENST00000330368 human ensembl 70_37 -1 known missense c.217 p.G73S 0.999 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTRT3 HGNC ENSG00000184378 24 12 33.33 26 0 0.00 ACVR1B 91 genome.wustl.edu 37 12 52376575 52376575 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 52376575 52376575 G T SNP ACVR1B ENST00000541224 human ensembl 70_37 +1 novel missense c.917 p.R306I 0.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 18 4 18.18 16 0 0.00 ACVR1B 91 genome.wustl.edu 37 12 52379000 52379000 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52379000 52379000 A G SNP ACVR1B ENST00000257963 human ensembl 70_37 +1 known missense c.1004 p.D335G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 27 20 42.55 63 0 0.00 ACVR1B 91 genome.wustl.edu 37 12 52387888 52387888 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 52387888 52387888 G A SNP ACVR1B ENST00000257963 human ensembl 70_37 +1 known silent c.1512 p.K504 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 34 7 17.07 85 0 0.00 ACVR1C 130399 genome.wustl.edu 37 2 158395204 158395204 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 158395204 158395204 C T SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known missense c.1237 p.E413K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 14 3 17.65 35 0 0.00 ACVR1C 130399 genome.wustl.edu 37 2 158406726 158406726 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 158406726 158406726 C T SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known silent c.723 p.T241 0.014 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 30 19 38.78 40 0 0.00 ACVR1C 130399 genome.wustl.edu 37 2 158412762 158412762 + Silent SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 158412762 158412762 C G SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known silent c.387 p.A129 0.519 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 35 20 36.36 83 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148654009 148654009 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 148654009 148654009 G T SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.195 p.K65N 1.000 pfam_Activin_rcpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 20 14 41.18 52 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148654036 148654036 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 148654036 148654036 G A SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known silent c.222 p.V74 1.000 pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 83 36 30.25 164 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148674878 148674878 + Nonsense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 148674878 148674878 C G SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known nonsense c.699 p.Y233* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 62 8 11.43 91 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148674879 148674879 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 148674879 148674879 G A SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 23 7 23.33 50 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148674909 148674909 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 148674909 148674909 G C SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 55 24 30.38 43 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148674936 148674937 + Frame_Shift_Ins INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 148674936 148674937 - A INS ACVR2A ENST00000241416 human ensembl 70_37 +1 known frame_shift_ins c.757_758 p.R255fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 16 15 48.39 11 0 0.00 ACVR2A 92 genome.wustl.edu 37 2 148676157 148676157 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 148676157 148676157 C T SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.958 p.H320Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 33 4 10.81 51 0 0.00 ACVR2B 93 genome.wustl.edu 37 3 38519415 38519415 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38519415 38519415 C T SNP ACVR2B ENST00000352511 human ensembl 70_37 +1 known silent c.324 p.F108 1.000 pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2B HGNC ENSG00000114739 18 7 28.00 16 0 0.00 ACVR2B-AS1 100128640 genome.wustl.edu 37 3 38493045 38493045 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 38493045 38493045 G A SNP ACVR2B-AS1 ENST00000441531 human ensembl 70_37 -1 putative rna NULL NULL 0.048 - - - no_errors ACVR2B-AS1 HGNC ENSG00000229589 29 5 14.71 28 0 0.00 ACVRL1 94 genome.wustl.edu 37 12 52309927 52309927 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 52309927 52309927 C T SNP ACVRL1 ENST00000550683 human ensembl 70_37 +1 known missense c.1198 p.R400C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVRL1 HGNC ENSG00000139567 32 9 21.95 44 0 0.00 ACY1 95 genome.wustl.edu 37 3 52021613 52021613 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 52021613 52021613 C T SNP ACY1 ENST00000458031 human ensembl 70_37 +1 known silent c.1164 p.G388 0.486 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 38 28 42.42 107 0 0.00 ADA 100 genome.wustl.edu 37 20 43248486 43248486 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 43248486 43248486 G A SNP ADA ENST00000372874 human ensembl 70_37 -1 known nonsense c.1081 p.Q361* 0.892 NULL pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 31 25 44.64 31 0 0.00 ADA 100 genome.wustl.edu 37 20 43249625 43249625 + RNA SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 20 43249625 43249625 C T SNP ADA ENST00000464097 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ADA HGNC ENSG00000196839 69 83 54.61 135 0 0.00 ADA 100 genome.wustl.edu 37 20 43255112 43255112 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 43255112 43255112 G A SNP ADA ENST00000372874 human ensembl 70_37 -1 known missense c.347 p.P116L 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 33 12 26.67 40 0 0.00 ADAD1 132612 genome.wustl.edu 37 4 123301290 123301290 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 123301290 123301290 G C SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.66 p.K22N 1.000 NULL pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 39 24 37.50 68 0 0.00 ADAD1 132612 genome.wustl.edu 37 4 123317485 123317485 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 123317485 123317485 A G SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.677 p.E226G 1.000 smart_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 28 8 21.62 43 0 0.00 ADAD1 132612 genome.wustl.edu 37 4 123317530 123317530 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 4 123317530 123317530 G A SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.722 p.R241K 1.000 smart_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 74 20 21.28 64 0 0.00 ADAD1 132612 genome.wustl.edu 37 4 123332499 123332499 + Missense_Mutation SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 123332499 123332499 T A SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.971 p.L324H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 6 4 40.00 70 0 0.00 ADAD2 161931 genome.wustl.edu 37 16 84229448 84229448 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 84229448 84229448 C T SNP ADAD2 ENST00000268624 human ensembl 70_37 +1 known silent c.1326 p.L442 0.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 13 5 27.78 13 0 0.00 ADAL 161823 genome.wustl.edu 37 15 43628873 43628873 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 43628873 43628873 G C SNP ADAL ENST00000422466 human ensembl 70_37 +1 known missense c.244 p.D82H 1.000 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 28 7 20.00 42 0 0.00 ADAM10 102 genome.wustl.edu 37 15 58920052 58920052 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 58920052 58920052 C G SNP ADAM10 ENST00000260408 human ensembl 70_37 -1 known missense c.1207 p.E403Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 25 19 43.18 57 0 0.00 ADAM10 102 genome.wustl.edu 37 15 59009816 59009816 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 59009816 59009816 C T SNP ADAM10 ENST00000260408 human ensembl 70_37 -1 known missense c.166 p.E56K 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 68 14 17.07 48 0 0.00 ADAM11 4185 genome.wustl.edu 37 17 42850447 42850447 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 42850447 42850447 C T SNP ADAM11 ENST00000200557 human ensembl 70_37 +1 known silent c.819 p.A273 0.379 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM11 HGNC ENSG00000073670 24 13 35.14 38 0 0.00 ADAM11 4185 genome.wustl.edu 37 17 42851877 42851877 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 42851877 42851877 G A SNP ADAM11 ENST00000200557 human ensembl 70_37 +1 known silent c.1095 p.A365 0.025 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM11 HGNC ENSG00000073670 37 11 22.92 54 0 0.00 ADAM12 8038 genome.wustl.edu 37 10 127724832 127724832 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 127724832 127724832 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known silent c.2421 p.L807 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 15 7 31.82 29 0 0.00 ADAM12 8038 genome.wustl.edu 37 10 127755362 127755362 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 127755362 127755362 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known missense c.1346 p.R449H 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 24 4 14.29 32 0 0.00 ADAM12 8038 genome.wustl.edu 37 10 127782552 127782552 + Splice_Site SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 127782552 127782552 G T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known splice_site c.1154+2 e11+2 1.000 - - - no_errors ADAM12 HGNC ENSG00000148848 33 4 10.81 70 0 0.00 ADAM12 8038 genome.wustl.edu 37 10 127786985 127786985 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 127786985 127786985 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known missense c.1005 p.M335I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 68 18 20.93 82 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155023353 155023353 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155023353 155023353 C G SNP ADAM15 ENST00000473905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADAM15 HGNC ENSG00000143537 37 10 21.28 30 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155025221 155025221 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155025221 155025221 G T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.154 p.D52Y 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 32 4 11.11 41 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155028479 155028479 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155028479 155028479 G A SNP ADAM15 ENST00000470779 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADAM15 HGNC ENSG00000143537 69 10 12.66 62 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155028694 155028694 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155028694 155028694 C G SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.883 p.R295G 0.993 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 101 19 15.83 90 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155030771 155030771 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 155030771 155030771 C G SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.1771 p.L591V 0.997 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 44 20 31.25 80 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155030783 155030783 + Missense_Mutation SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155030783 155030783 A T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.1783 p.I595F 0.004 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 16 6 27.27 13 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155030785 155030785 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155030785 155030785 C T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known silent c.1785 p.I595 0.001 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 16 6 27.27 13 0 0.00 ADAM15 8751 genome.wustl.edu 37 1 155034080 155034080 + RNA SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 155034080 155034080 C A SNP ADAM15 ENST00000461234 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADAM15 HGNC ENSG00000143537 25 11 30.56 39 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9637283 9637283 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 9637283 9637283 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known silent c.1743 p.F581 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 62 24 27.91 126 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9645420 9645420 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 9645420 9645420 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known silent c.1419 p.R473 1.000 pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 94 34 26.56 148 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9645487 9645487 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 9645487 9645487 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.1352 p.S451L 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 82 18 18.00 116 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9667992 9667992 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 9667992 9667992 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.542 p.P181L 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 50 11 18.03 31 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9667999 9667999 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 9667999 9667999 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known nonsense c.535 p.Q179* 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 50 11 18.03 30 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9668007 9668007 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 9668007 9668007 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.527 p.S176L 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 52 12 18.75 30 0 0.00 ADAM17 6868 genome.wustl.edu 37 2 9676906 9676906 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 9676906 9676906 G C SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.282 p.F94L 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 68 15 18.07 81 0 0.00 ADAM18 8749 genome.wustl.edu 37 8 39496008 39496008 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 39496008 39496008 G T SNP ADAM18 ENST00000265707 human ensembl 70_37 +1 known silent c.852 p.V284 0.318 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 18 3 14.29 44 0 0.00 ADAM18 8749 genome.wustl.edu 37 8 39505933 39505933 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 39505933 39505933 G C SNP ADAM18 ENST00000265707 human ensembl 70_37 +1 known missense c.1117 p.E373Q 0.004 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 19 15 44.12 42 0 0.00 ADAM19 8728 genome.wustl.edu 37 5 156915286 156915286 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 5 156915286 156915286 C T SNP ADAM19 ENST00000394020 human ensembl 70_37 -1 known missense c.2543 p.C848Y 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM19 HGNC ENSG00000135074 34 35 50.72 101 0 0.00 ADAM19 8728 genome.wustl.edu 37 5 156997957 156997957 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 156997957 156997957 C A SNP ADAM19 ENST00000394020 human ensembl 70_37 -1 known missense c.132 p.Q44H 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM19 HGNC ENSG00000135074 15 4 21.05 57 0 0.00 ADAM2 2515 genome.wustl.edu 37 8 39613390 39613390 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 39613390 39613390 T G SNP ADAM2 ENST00000265708 human ensembl 70_37 -1 known missense c.1654 p.K552Q 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 29 14 32.56 55 0 0.00 ADAM20 8748 genome.wustl.edu 37 14 70989425 70989425 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 14 70989425 70989425 C T SNP ADAM20 ENST00000256389 human ensembl 70_37 -1 known missense c.2200 p.G734R 0.001 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 16 14 46.67 35 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924354 70924354 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70924354 70924354 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.138 p.L46F 0.032 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 29 7 19.44 41 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924602 70924602 + Missense_Mutation SNP T T G TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 14 70924602 70924602 T G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.386 p.F129C 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 30 5 14.29 21 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924602 70924602 + Missense_Mutation SNP T T G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 70924602 70924602 T G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.386 p.F129C 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 31 7 18.42 24 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924619 70924619 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70924619 70924619 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.403 p.V135L 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 16 13 44.83 18 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924696 70924696 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 70924696 70924696 G A SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known silent c.480 p.K160 0.001 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 26 7 21.21 21 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70924697 70924697 + Missense_Mutation SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 70924697 70924697 A G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.481 p.I161V 0.001 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 26 8 23.53 22 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70925266 70925266 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70925266 70925266 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.1050 p.Q350H 0.011 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 21 18 46.15 27 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70926021 70926021 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70926021 70926021 C G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.1805 p.S602C 0.206 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 88 72 45.00 134 0 0.00 ADAM21 8747 genome.wustl.edu 37 14 70926378 70926378 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 70926378 70926378 C G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known nonsense c.2162 p.S721* 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 16 9 36.00 23 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70712497 70712497 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 70712497 70712497 G A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors ADAM21P1 HGNC ENSG00000235812 169 26 13.27 213 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70713328 70713328 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70713328 70713328 C A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.644 - - - no_errors ADAM21P1 HGNC ENSG00000235812 101 17 14.41 118 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70713951 70713951 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 70713951 70713951 G A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.732 - - - no_errors ADAM21P1 HGNC ENSG00000235812 24 6 20.00 24 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70714087 70714087 + RNA SNP T T G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 70714087 70714087 T G SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ENSG00000235812 31 7 18.42 34 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70714144 70714144 + RNA SNP A A G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 70714144 70714144 A G SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors ADAM21P1 HGNC ENSG00000235812 34 5 12.82 42 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70714259 70714259 + RNA SNP A A G TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 14 70714259 70714259 A G SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ADAM21P1 HGNC ENSG00000235812 32 5 13.51 46 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70714445 70714445 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70714445 70714445 C A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors ADAM21P1 HGNC ENSG00000235812 36 11 23.40 97 0 0.00 ADAM21P1 145241 genome.wustl.edu 37 14 70714518 70714518 + RNA SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 70714518 70714518 G A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.497 - - - no_errors ADAM21P1 HGNC ENSG00000235812 83 30 26.55 51 0 0.00 ADAM22 53616 genome.wustl.edu 37 7 87762260 87762260 + Silent SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 87762260 87762260 G C SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known silent c.1071 p.V357 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 72 41 36.28 145 0 0.00 ADAM22 53616 genome.wustl.edu 37 7 87778331 87778331 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 87778331 87778331 G T SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known missense c.1525 p.D509Y 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 34 4 10.53 43 0 0.00 ADAM22 53616 genome.wustl.edu 37 7 87810903 87810903 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87810903 87810903 G A SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known missense c.2492 p.R831Q 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 18 6 25.00 27 0 0.00 ADAM23 8745 genome.wustl.edu 37 2 207413014 207413014 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 207413014 207413014 G T SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known missense c.803 p.R268I 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 20 14 41.18 57 0 0.00 ADAM23 8745 genome.wustl.edu 37 2 207424741 207424741 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 207424741 207424741 G A SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known silent c.1068 p.K356 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 9 17 65.38 63 0 0.00 ADAM23 8745 genome.wustl.edu 37 2 207435488 207435488 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207435488 207435488 A C SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known missense c.1519 p.N507H 1.000 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 33 15 31.25 72 0 0.00 ADAM28 10863 genome.wustl.edu 37 8 24181361 24181361 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 8 24181361 24181361 C T SNP ADAM28 ENST00000265769 human ensembl 70_37 +1 known silent c.735 p.L245 0.925 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 8 3 27.27 70 0 0.00 ADAM28 10863 genome.wustl.edu 37 8 24193049 24193049 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 24193049 24193049 G C SNP ADAM28 ENST00000265769 human ensembl 70_37 +1 known missense c.1462 p.D488H 0.890 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 7 29 80.56 58 0 0.00 ADAM29 11086 genome.wustl.edu 37 4 175896932 175896932 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 175896932 175896932 C T SNP ADAM29 ENST00000359240 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 0.975 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 29 20 40.82 91 0 0.00 ADAM29 11086 genome.wustl.edu 37 4 175898988 175898988 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 175898988 175898988 G A SNP ADAM29 ENST00000359240 human ensembl 70_37 +1 known missense c.2312 p.R771Q 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 25 12 32.43 142 0 0.00 ADAM30 11085 genome.wustl.edu 37 1 120437902 120437902 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 120437902 120437902 C T SNP ADAM30 ENST00000369400 human ensembl 70_37 -1 known missense c.1058 p.C353Y 0.162 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 94 47 33.10 143 0 0.00 ADAM30 11085 genome.wustl.edu 37 1 120438431 120438431 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 120438431 120438431 C G SNP ADAM30 ENST00000369400 human ensembl 70_37 -1 known missense c.529 p.D177H 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 19 44 68.75 34 0 0.00 ADAM32 203102 genome.wustl.edu 37 8 38965217 38965217 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 38965217 38965217 C G SNP ADAM32 ENST00000437682 human ensembl 70_37 +1 putative silent c.24 p.P8 0.008 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 23 5 17.86 15 0 0.00 ADAM32 203102 genome.wustl.edu 37 8 39007329 39007329 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 39007329 39007329 G A SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.296 p.G99E 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 20 14 40.00 32 0 0.00 ADAM32 203102 genome.wustl.edu 37 8 39080597 39080597 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 39080597 39080597 T G SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.1365 p.H455Q 0.027 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 27 16 37.21 29 0 0.00 ADAM32 203102 genome.wustl.edu 37 8 39133369 39133369 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 39133369 39133369 C G SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.2263 p.Q755E 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 42 25 37.31 47 0 0.00 ADAM32 203102 genome.wustl.edu 37 8 39142357 39142357 + RNA SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 39142357 39142357 C T SNP ADAM32 ENST00000524303 human ensembl 70_37 +1 known rna NULL NULL 0.908 - - - no_errors ADAM32 HGNC ENSG00000197140 88 11 11.11 72 0 0.00 ADAM33 80332 genome.wustl.edu 37 20 3649569 3649569 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3649569 3649569 G A SNP ADAM33 ENST00000466620 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors ADAM33 HGNC ENSG00000149451 111 16 12.60 84 0 0.00 ADAM3A 1587 genome.wustl.edu 37 8 39380346 39380346 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 39380346 39380346 C T SNP ADAM3A ENST00000460383 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM3A HGNC ENSG00000197475 29 33 53.23 54 0 0.00 ADAM6 8755 genome.wustl.edu 37 14 106436535 106436535 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 106436535 106436535 G A SNP ADAM6 ENST00000452053 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM6 HGNC ENSG00000233988 24 14 36.84 51 0 0.00 ADAM7 8756 genome.wustl.edu 37 8 24299985 24299985 + Splice_Site SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 24299985 24299985 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known splice_site c.53-1 e2-1 0.571 - - - no_errors ADAM7 HGNC ENSG00000069206 32 53 62.35 58 0 0.00 ADAM7 8756 genome.wustl.edu 37 8 24321394 24321394 + Splice_Site SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 24321394 24321394 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known splice_site c.234-1 e4-1 0.997 - - - no_errors ADAM7 HGNC ENSG00000069206 12 22 64.71 69 0 0.00 ADAM7 8756 genome.wustl.edu 37 8 24324484 24324484 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 24324484 24324484 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known missense c.562 p.E188K 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 32 19 37.25 39 0 0.00 ADAM7 8756 genome.wustl.edu 37 8 24342818 24342818 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 24342818 24342818 G T SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known nonsense c.904 p.G302* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 29 4 12.12 33 0 0.00 ADAM7 8756 genome.wustl.edu 37 8 24350098 24350098 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 24350098 24350098 C A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known missense c.1643 p.P548H 0.615 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 34 4 10.26 45 0 0.00 ADAM8 101 genome.wustl.edu 37 10 135082987 135082987 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 135082987 135082987 G A SNP ADAM8 ENST00000445355 human ensembl 70_37 -1 known missense c.1910 p.P637L 0.999 pfscan_EG-like_dom pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 7 9 56.25 22 0 0.00 ADAM8 101 genome.wustl.edu 37 10 135084281 135084281 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 135084281 135084281 G A SNP ADAM8 ENST00000445355 human ensembl 70_37 -1 known silent c.1593 p.F531 0.110 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 11 2 15.38 17 0 0.00 ADAM9 8754 genome.wustl.edu 37 8 38874802 38874802 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38874802 38874802 G C SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.475 p.E159Q 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 23 16 41.03 28 0 0.00 ADAM9 8754 genome.wustl.edu 37 8 38874932 38874932 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38874932 38874932 G C SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.605 p.R202P 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 14 5 26.32 16 0 0.00 ADAM9 8754 genome.wustl.edu 37 8 38883375 38883375 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 38883375 38883375 C G SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known nonsense c.968 p.S323* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 35 23 39.66 68 0 0.00 ADAM9 8754 genome.wustl.edu 37 8 38884227 38884227 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 38884227 38884227 C T SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.1028 p.S343F 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 98 31 24.03 109 0 0.00 ADAM9 8754 genome.wustl.edu 37 8 38948831 38948831 + Missense_Mutation SNP G G T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 8 38948831 38948831 G T SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.2264 p.R755L 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 15 4 21.05 24 0 0.00 ADAMDEC1 27299 genome.wustl.edu 37 8 24256534 24256534 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 24256534 24256534 G A SNP ADAMDEC1 ENST00000256412 human ensembl 70_37 +1 known missense c.910 p.D304N 0.964 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 57 25 30.12 41 0 0.00 ADAMTS1 9510 genome.wustl.edu 37 21 28210431 28210431 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 28210431 28210431 C A SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.2371 p.D791Y 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 49 9 15.52 51 0 0.00 ADAMTS1 9510 genome.wustl.edu 37 21 28210520 28210520 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 28210520 28210520 G A SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.2282 p.S761F 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 32 14 30.43 54 0 0.00 ADAMTS1 9510 genome.wustl.edu 37 21 28217230 28217230 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 28217230 28217230 C G SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.44 p.G15A 0.060 prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 8 8 50.00 16 0 0.00 ADAMTS1 9510 genome.wustl.edu 37 21 28217233 28217233 + Missense_Mutation SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 28217233 28217233 A T SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.41 p.L14Q 0.001 prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 8 7 46.67 14 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8645823 8645823 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 8645823 8645823 C T SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.3266 p.R1089Q 1.000 pfam_PLAC,pfscan_PLAC pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 31 6 16.22 41 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8649802 8649802 + Frame_Shift_Del DEL G G - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 8649802 8649802 G - DEL ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known frame_shift_del c.3179 p.P1060fs 0.030 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 4 2 33.33 8 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8649845 8649845 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 8649845 8649845 G A SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.3136 p.R1046W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 23 15 39.47 36 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8650111 8650111 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 8650111 8650111 C T SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.2947 p.A983T 0.001 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 15 8 34.78 16 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8657677 8657677 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 8657677 8657677 C T SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known silent c.1557 p.T519 0.999 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 10 9 47.37 18 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8670176 8670176 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 8670176 8670176 T C SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known silent c.156 p.A52 0.628 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 42 8 16.00 56 0 0.00 ADAMTS10 81794 genome.wustl.edu 37 19 8670211 8670211 + Missense_Mutation SNP T T A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 8670211 8670211 T A SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.121 p.I41F 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 23 15 39.47 27 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33527310 33527310 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 33527310 33527310 T C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.4768 p.K1590E 0.002 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 46 27 36.49 117 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33527413 33527413 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 33527413 33527413 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.4665 p.M1555I 1.000 pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 48 12 20.00 82 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33576359 33576359 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 5 33576359 33576359 C G SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.3772 p.E1258Q 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 227 57 20.00 226 1 0.44 ADAMTS12 81792 genome.wustl.edu 37 5 33576974 33576974 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 33576974 33576974 G C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.3157 p.P1053A 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 64 32 33.33 72 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33576974 33576974 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 33576974 33576974 G C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.3157 p.P1053A 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 67 9 11.84 67 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33588817 33588817 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 33588817 33588817 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2752 p.E918K 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 47 8 14.55 43 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33614445 33614445 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33614445 33614445 C G SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2425 p.E809Q 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 24 17 41.46 34 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33616032 33616032 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 33616032 33616032 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known silent c.2289 p.G763 0.929 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 26 19 42.22 68 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33616118 33616118 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 33616118 33616118 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2203 p.E735K 0.998 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 50 15 23.08 46 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33881290 33881290 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33881290 33881290 G A SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known silent c.423 p.L141 0.920 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 19 10 34.48 36 0 0.00 ADAMTS12 81792 genome.wustl.edu 37 5 33891856 33891856 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 33891856 33891856 G A SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.106 p.R36C 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 27 3 10.00 33 0 0.00 ADAMTS13 11093 genome.wustl.edu 37 9 136308556 136308556 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 136308556 136308556 G A SNP ADAMTS13 ENST00000371929 human ensembl 70_37 +1 known missense c.2294 p.R765Q 0.008 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 20 26 56.52 37 0 0.00 ADAMTS13 11093 genome.wustl.edu 37 9 136310925 136310925 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 136310925 136310925 G A SNP ADAMTS13 ENST00000371929 human ensembl 70_37 +1 known missense c.2716 p.V906I 0.975 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 30 23 43.40 59 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72434400 72434400 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 10 72434400 72434400 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known silent c.171 p.V57 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 56 7 11.11 41 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72462221 72462221 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 72462221 72462221 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.676 p.E226K 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 36 18 33.33 62 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72503424 72503424 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 72503424 72503424 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.2054 p.R685H 0.994 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 21 4 16.00 40 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72511285 72511285 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 72511285 72511285 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.2488 p.V830I 0.052 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 59 23 28.05 69 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72517796 72517796 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 72517796 72517796 G C SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.3025 p.E1009Q 0.953 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 26 12 31.58 62 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72517980 72517980 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 72517980 72517980 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known silent c.3126 p.T1042 0.007 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 31 24 43.64 66 0 0.00 ADAMTS14 140766 genome.wustl.edu 37 10 72520346 72520346 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 72520346 72520346 C A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.3418 p.P1140T 0.003 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ENSG00000138316 18 6 25.00 20 0 0.00 ADAMTS15 170689 genome.wustl.edu 37 11 130319206 130319206 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 130319206 130319206 C G SNP ADAMTS15 ENST00000299164 human ensembl 70_37 +1 known missense c.338 p.S113W 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 13 10 43.48 14 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5140861 5140861 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 5140861 5140861 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.157 p.G53S 0.005 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 51 35 40.70 120 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5182233 5182233 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 5182233 5182233 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.578 p.R193K 0.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 9 8 47.06 18 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5186227 5186227 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 5 5186227 5186227 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.826 p.R276W 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 112 18 13.74 45 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5222971 5222971 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 5222971 5222971 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.1675 p.E559K 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 45 14 23.73 35 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5232548 5232548 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 5232548 5232548 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.1769 p.S590L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 102 19 15.70 119 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5235148 5235148 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 5235148 5235148 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known silent c.1872 p.F624 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 64 45 41.28 36 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5239271 5239271 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 5239271 5239271 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.2162 p.G721E 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 89 22 19.82 96 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5239294 5239294 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 5239294 5239294 G C SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.2185 p.D729H 0.497 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 91 27 22.88 82 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5239840 5239840 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 5239840 5239840 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known silent c.2325 p.R775 0.060 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 31 18 36.73 52 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5306632 5306632 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 5306632 5306632 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.3202 p.E1068K 0.714 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 210 24 10.26 213 0 0.00 ADAMTS16 170690 genome.wustl.edu 37 5 5306693 5306693 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 5306693 5306693 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.3263 p.R1088Q 0.918 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 91 33 26.40 147 0 0.00 ADAMTS17 170691 genome.wustl.edu 37 15 100589078 100589078 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 100589078 100589078 G A SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2575 p.H859Y 0.995 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 51 17 25.00 32 0 0.00 ADAMTS17 170691 genome.wustl.edu 37 15 100594105 100594105 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 100594105 100594105 C G SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2292 p.L764F 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 91 36 28.35 74 0 0.00 ADAMTS17 170691 genome.wustl.edu 37 15 100594175 100594175 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 100594175 100594175 A G SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2222 p.V741A 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 33 22 40.00 67 0 0.00 ADAMTS17 170691 genome.wustl.edu 37 15 100695466 100695466 + Nonsense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 100695466 100695466 G C SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known nonsense c.1241 p.S414* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 34 20 37.04 58 0 0.00 ADAMTS18 170692 genome.wustl.edu 37 16 77325241 77325241 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 77325241 77325241 C T SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known silent c.3324 p.E1108 0.314 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 25 6 19.35 46 0 0.00 ADAMTS18 170692 genome.wustl.edu 37 16 77331190 77331190 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 77331190 77331190 C A SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known missense c.2797 p.A933S 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 24 6 20.00 48 0 0.00 ADAMTS18 170692 genome.wustl.edu 37 16 77397746 77397746 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 77397746 77397746 C G SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known missense c.1009 p.D337H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 36 9 20.00 30 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 128887582 128887582 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 128887582 128887582 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.1336 p.E446K 1.000 pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 32 7 17.50 24 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 128887591 128887591 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 128887591 128887591 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.1345 p.D449N 1.000 pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 13 12 48.00 22 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 128957956 128957956 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 5 128957956 128957956 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.1667 p.S556F 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 76 9 10.59 91 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 128983517 128983517 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 128983517 128983517 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known silent c.1914 p.E638 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 27 22 44.90 46 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 128994312 128994312 + Missense_Mutation SNP A A T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 128994312 128994312 A T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.2289 p.K763N 0.998 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 30 44 59.46 90 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 129037112 129037112 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 129037112 129037112 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known nonsense c.2968 p.R990* 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 52 11 17.46 92 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 129037232 129037232 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 129037232 129037232 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3088 p.R1030C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 42 5 10.64 43 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 129037283 129037283 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 129037283 129037283 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3139 p.E1047K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 10 14 58.33 18 0 0.00 ADAMTS19 171019 genome.wustl.edu 37 5 129072808 129072808 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 129072808 129072808 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3521 p.R1174Q 0.997 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 30 14 31.82 44 0 0.00 ADAMTS2 9509 genome.wustl.edu 37 5 178540923 178540923 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178540923 178540923 C A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3581 p.R1194I 0.983 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 28 14 33.33 57 0 0.00 ADAMTS2 9509 genome.wustl.edu 37 5 178541064 178541064 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 178541064 178541064 G T SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3440 p.S1147Y 0.027 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 75 15 16.67 172 0 0.00 ADAMTS2 9509 genome.wustl.edu 37 5 178548700 178548700 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 178548700 178548700 C T SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3140 p.R1047H 0.793 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 22 45 67.16 140 0 0.00 ADAMTS2 9509 genome.wustl.edu 37 5 178559250 178559250 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 178559250 178559250 G A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known silent c.2271 p.D757 0.377 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 22 19 46.34 19 0 0.00 ADAMTS2 9509 genome.wustl.edu 37 5 178579207 178579207 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 178579207 178579207 T A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.1565 p.N522I 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 30 4 11.76 57 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43771178 43771178 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 43771178 43771178 T G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.4985 p.K1662T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 45 8 15.09 52 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43771257 43771257 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 43771257 43771257 C A SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known nonsense c.4906 p.E1636* 0.999 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 29 11 27.50 84 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43822200 43822200 + Nonsense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 43822200 43822200 G T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known nonsense c.3789 p.C1263* 0.998 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 31 18 36.73 56 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43824240 43824240 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 43824240 43824240 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.3296 p.R1099Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 23 8 25.81 39 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43826221 43826221 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 43826221 43826221 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2982 p.M994I 0.985 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 17 10 37.04 18 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43826221 43826221 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 43826221 43826221 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2982 p.M994I 0.985 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 46 26 36.11 60 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43840473 43840473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 43840473 43840473 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2122 p.D708H 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 54 49 47.12 43 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43840503 43840503 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 43840503 43840503 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2092 p.D698N 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 34 23 39.66 52 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43856750 43856750 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 12 43856750 43856750 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.1562 p.C521Y 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 47 9 16.07 34 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43896176 43896176 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 43896176 43896176 G C SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.646 p.H216D 0.376 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 46 10 17.86 69 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43925948 43925948 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 43925948 43925948 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.504 p.M168I 0.988 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 53 34 39.08 124 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43944892 43944892 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 43944892 43944892 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known silent c.273 p.L91 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 86 32 27.12 95 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43944941 43944941 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 43944941 43944941 G A SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.224 p.P75L 0.020 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 135 29 17.68 127 1 0.78 ADAMTS20 80070 genome.wustl.edu 37 12 43945017 43945017 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 43945017 43945017 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 46 8 14.81 81 0 0.00 ADAMTS20 80070 genome.wustl.edu 37 12 43945017 43945017 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 43945017 43945017 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 55 12 17.91 19 0 0.00 ADAMTS3 9508 genome.wustl.edu 37 4 73148890 73148890 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 73148890 73148890 T C SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.3581 p.N1194S 0.928 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 19 15 44.12 73 0 0.00 ADAMTS3 9508 genome.wustl.edu 37 4 73156717 73156717 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 73156717 73156717 C T SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2786 p.R929H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 33 31 48.44 98 0 0.00 ADAMTS3 9508 genome.wustl.edu 37 4 73156718 73156718 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 73156718 73156718 G A SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2785 p.R929C 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 63 33 34.38 93 0 0.00 ADAMTS3 9508 genome.wustl.edu 37 4 73176775 73176775 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 73176775 73176775 C T SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2045 p.G682E 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 49 9 15.52 40 0 0.00 ADAMTS3 9508 genome.wustl.edu 37 4 73205317 73205317 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 73205317 73205317 C G SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.755 p.G252A 0.994 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 235 55 18.84 394 0 0.00 ADAMTS4 9507 genome.wustl.edu 37 1 161165346 161165346 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161165346 161165346 G A SNP ADAMTS4 ENST00000367996 human ensembl 70_37 -1 known silent c.1170 p.V390 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 27 10 27.03 42 0 0.00 ADAMTS4 9507 genome.wustl.edu 37 1 161166037 161166037 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 161166037 161166037 G C SNP ADAMTS4 ENST00000367996 human ensembl 70_37 -1 known silent c.1014 p.V338 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 74 13 14.94 97 0 0.00 ADAMTS5 11096 genome.wustl.edu 37 21 28304448 28304448 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 28304448 28304448 C A SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.1924 p.D642Y 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 27 22 44.90 44 0 0.00 ADAMTS5 11096 genome.wustl.edu 37 21 28315804 28315804 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 28315804 28315804 C T SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.1300 p.E434K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 54 28 34.15 62 0 0.00 ADAMTS5 11096 genome.wustl.edu 37 21 28338227 28338227 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 28338227 28338227 G A SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.484 p.R162C 1.000 pfam_Peptidase_M12B_N,prints_Pept_M12B_ADAM-TS5 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 30 12 28.57 15 0 0.00 ADAMTS6 11174 genome.wustl.edu 37 5 64466540 64466540 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 64466540 64466540 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.3148 p.G1050R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ENSG00000049192 28 11 27.50 60 0 0.00 ADAMTS6 11174 genome.wustl.edu 37 5 64511297 64511297 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64511297 64511297 C G SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.2290 p.D764H 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ENSG00000049192 16 9 36.00 23 0 0.00 ADAMTS6 11174 genome.wustl.edu 37 5 64625257 64625257 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64625257 64625257 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.1171 p.E391K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ENSG00000049192 18 10 35.71 21 0 0.00 ADAMTS6 11174 genome.wustl.edu 37 5 64766649 64766649 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 64766649 64766649 G C SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.418 p.Q140E 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ENSG00000049192 27 24 47.06 55 0 0.00 ADAMTS6 11174 genome.wustl.edu 37 5 64766877 64766877 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 64766877 64766877 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.190 p.D64N 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ENSG00000049192 33 18 35.29 111 0 0.00 ADAMTS7 11173 genome.wustl.edu 37 15 79056093 79056093 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 79056093 79056093 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.4688 p.R1563Q 0.303 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 65 26 28.57 136 0 0.00 ADAMTS7 11173 genome.wustl.edu 37 15 79058074 79058074 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 79058074 79058074 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known silent c.4179 p.P1393 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 369 43 10.39 341 0 0.00 ADAMTS7 11173 genome.wustl.edu 37 15 79065434 79065434 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 79065434 79065434 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.2122 p.E708K 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 53 8 13.11 73 0 0.00 ADAMTS7 11173 genome.wustl.edu 37 15 79066564 79066564 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 79066564 79066564 G A SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.1955 p.T652I 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 159 42 20.79 180 0 0.00 ADAMTS7 11173 genome.wustl.edu 37 15 79068583 79068583 + Silent SNP T T A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79068583 79068583 T A SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known silent c.1653 p.S551 0.759 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 53 19 26.39 90 0 0.00 ADAMTS8 11095 genome.wustl.edu 37 11 130275551 130275551 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 130275551 130275551 C T SNP ADAMTS8 ENST00000257359 human ensembl 70_37 -1 known missense c.2572 p.E858K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 16 10 38.46 31 0 0.00 ADAMTS9 56999 genome.wustl.edu 37 3 64536684 64536684 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 64536684 64536684 C G SNP ADAMTS9 ENST00000498707 human ensembl 70_37 -1 known missense c.4753 p.D1585H 0.089 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 222 45 16.79 345 0 0.00 ADAMTS9 56999 genome.wustl.edu 37 3 64644459 64644459 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 64644459 64644459 T G SNP ADAMTS9 ENST00000498707 human ensembl 70_37 -1 known missense c.688 p.N230H 0.001 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 17 13 43.33 33 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18574115 18574115 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 18574115 18574115 C T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known missense c.325 p.L109F 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 31 22 41.51 78 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18574130 18574130 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 18574130 18574130 G A SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known missense c.340 p.D114N 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 54 15 21.74 102 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18622252 18622252 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 18622252 18622252 C T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.486 p.C162 0.970 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 20 12 37.50 61 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18639298 18639298 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 18639298 18639298 C G SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.723 p.L241 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 12 15 55.56 61 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18639370 18639370 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 18639370 18639370 G T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 38 18 32.14 49 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18639370 18639370 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 18639370 18639370 G T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 37 6 13.95 65 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18776791 18776791 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 18776791 18776791 C T SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel missense c.2564 p.P855L 0.711 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 28 11 28.21 53 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18776905 18776905 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 9 18776905 18776905 C T SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel missense c.2678 p.T893M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 17 10 37.04 21 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18776963 18776963 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 18776963 18776963 G A SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel silent c.2736 p.E912 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 38 18 32.14 29 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18777070 18777070 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 18777070 18777070 C G SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel nonsense c.2843 p.S948* 0.277 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 32 14 30.43 23 0 0.00 ADAMTSL1 92949 genome.wustl.edu 37 9 18777507 18777507 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 18777507 18777507 G A SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel missense c.3280 p.D1094N 0.989 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 12 4 25.00 14 0 0.00 ADAMTSL2 9719 genome.wustl.edu 37 9 136406068 136406068 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 136406068 136406068 C T SNP ADAMTSL2 ENST00000393061 human ensembl 70_37 +1 known silent c.954 p.D318 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 22 7 24.14 56 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84373210 84373210 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 84373210 84373210 C G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.139 p.L47V 0.988 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 160 57 26.27 188 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84373210 84373210 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 84373210 84373210 C G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.139 p.L47V 0.988 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 52 11 17.46 32 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84568399 84568399 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 84568399 84568399 A G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.1616 p.E539G 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 16 12 42.86 39 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84581944 84581944 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 84581944 84581944 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.1801 p.E601K 0.552 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 20 12 37.50 59 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84651086 84651086 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 84651086 84651086 G C SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.2706 p.Q902H 0.998 pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 18 5 21.74 30 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84652068 84652068 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 84652068 84652068 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.3688 p.D1230N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 9 11 55.00 31 0 0.00 ADAMTSL3 57188 genome.wustl.edu 37 15 84657473 84657473 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 84657473 84657473 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known silent c.3747 p.Q1249 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 6 9 60.00 17 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150522694 150522694 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150522694 150522694 G A SNP ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.847 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 18 5 21.74 16 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150524268 150524268 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 150524268 150524268 C T SNP ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 6 4 40.00 15 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150524368 150524368 + RNA DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150524368 150524368 A - DEL ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 10 5 33.33 8 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150525407 150525407 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 150525407 150525407 G A SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.112 p.E38K 0.107 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 113 190 62.71 183 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150525459 150525459 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 150525459 150525459 C T SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.164 p.S55F 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 39 7 15.22 61 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150525585 150525585 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150525585 150525585 C T SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.290 p.P97L 0.001 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 17 13 43.33 35 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150529705 150529705 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 150529705 150529705 G C SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known silent c.2010 p.R670 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 13 10 43.48 19 0 0.00 ADAMTSL4 54507 genome.wustl.edu 37 1 150530005 150530005 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 150530005 150530005 G C SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.2152 p.E718Q 0.999 superfamily_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 28 28 50.00 55 0 0.00 ADAMTSL5 339366 genome.wustl.edu 37 19 1510233 1510233 + Missense_Mutation SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 1510233 1510233 A G SNP ADAMTSL5 ENST00000413997 human ensembl 70_37 -1 known missense c.307 p.F103L 1.000 NULL pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC ENSG00000185761 25 8 24.24 68 0 0.00 ADAP2 55803 genome.wustl.edu 37 17 29250063 29250063 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29250063 29250063 A T SNP ADAP2 ENST00000330889 human ensembl 70_37 +1 known missense c.200 p.D67V 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 28 10 26.32 45 0 0.00 ADAP2 55803 genome.wustl.edu 37 17 29283385 29283385 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 29283385 29283385 C T SNP ADAP2 ENST00000330889 human ensembl 70_37 +1 known missense c.1009 p.R337W 0.776 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 15 15 50.00 42 0 0.00 ADAR 103 genome.wustl.edu 37 1 154558839 154558839 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 154558839 154558839 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3149 p.G1050A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 17 20 54.05 23 0 0.00 ADAR 103 genome.wustl.edu 37 1 154558839 154558839 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 154558839 154558839 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3149 p.G1050A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 18 17 48.57 30 0 0.00 ADAR 103 genome.wustl.edu 37 1 154560627 154560627 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 154560627 154560627 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3122 p.G1041A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 61 31 33.70 91 0 0.00 ADAR 103 genome.wustl.edu 37 1 154561847 154561847 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154561847 154561847 G A SNP ADAR ENST00000292205 human ensembl 70_37 -1 known silent c.2889 p.I963 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 30 4 11.76 31 0 0.00 ADAR 103 genome.wustl.edu 37 1 154562688 154562688 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154562688 154562688 G C SNP ADAR ENST00000292205 human ensembl 70_37 -1 known nonsense c.2597 p.S866* 0.945 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 51 11 17.74 44 0 0.00 ADAR 103 genome.wustl.edu 37 1 154574963 154574963 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 154574963 154574963 G A SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.284 p.P95L 0.268 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 73 45 38.14 60 0 0.00 ADAR 103 genome.wustl.edu 37 1 154600399 154600399 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 154600399 154600399 C T SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.76 p.G26R 0.989 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 54 31 36.47 57 0 0.00 ADARB1 104 genome.wustl.edu 37 21 46596439 46596439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46596439 46596439 G C SNP ADARB1 ENST00000360697 human ensembl 70_37 +1 known missense c.823 p.E275Q 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 44 29 39.73 58 0 0.00 ADARB2 105 genome.wustl.edu 37 10 1246192 1246192 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1246192 1246192 A G SNP ADARB2 ENST00000381310 human ensembl 70_37 -1 known silent c.105 p.D35 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 18 13 41.94 39 0 0.00 ADARB2 105 genome.wustl.edu 37 10 1246280 1246280 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 1246280 1246280 G A SNP ADARB2 ENST00000381310 human ensembl 70_37 -1 known missense c.17 p.P6L 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 25 13 34.21 48 0 0.00 ADARB2 105 genome.wustl.edu 37 10 1262869 1262869 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1262869 1262869 G A SNP ADARB2 ENST00000469464 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ADARB2 HGNC ENSG00000185736 64 37 36.63 127 0 0.00 ADARB2 105 genome.wustl.edu 37 10 1779303 1779303 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 1779303 1779303 C T SNP ADARB2 ENST00000381312 human ensembl 70_37 -1 known silent c.42 p.L14 0.671 NULL pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 17 13 43.33 46 0 0.00 ADARB2-AS1 642394 genome.wustl.edu 37 10 1568961 1568961 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 1568961 1568961 G A SNP ADARB2-AS1 ENST00000381301 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 31 16 34.04 69 0 0.00 ADARB2-AS1 642394 genome.wustl.edu 37 10 1598927 1598927 + RNA SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 1598927 1598927 G C SNP ADARB2-AS1 ENST00000421697 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 125 36 22.36 91 0 0.00 ADAT1 23536 genome.wustl.edu 37 16 75642774 75642774 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 75642774 75642774 C G SNP ADAT1 ENST00000307921 human ensembl 70_37 -1 known missense c.1156 p.D386H 0.008 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 41 17 29.31 53 0 0.00 ADC 0 genome.wustl.edu 37 1 33546851 33546851 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 33546851 33546851 C T SNP ADC ENST00000462920 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADC HGNC ENSG00000142920 8 10 55.56 16 0 0.00 ADC 0 genome.wustl.edu 37 1 33547748 33547748 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 33547748 33547748 G A SNP ADC ENST00000484656 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADC HGNC ENSG00000142920 78 14 15.22 77 0 0.00 ADC 0 genome.wustl.edu 37 1 33549552 33549552 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 33549552 33549552 C T SNP ADC ENST00000478204 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors ADC HGNC ENSG00000142920 49 6 10.91 37 0 0.00 ADC 0 genome.wustl.edu 37 1 33567487 33567487 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 33567487 33567487 C T SNP ADC ENST00000358680 human ensembl 70_37 +1 known silent c.609 p.A203 0.002 NULL pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase - no_errors ADC HGNC ENSG00000142920 80 34 29.82 178 0 0.00 ADC 0 genome.wustl.edu 37 1 33567488 33567488 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 33567488 33567488 G A SNP ADC ENST00000358680 human ensembl 70_37 +1 known missense c.610 p.V204M 0.002 NULL pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase - no_errors ADC HGNC ENSG00000142920 109 49 31.01 144 1 0.69 ADCK1 57143 genome.wustl.edu 37 14 78365500 78365500 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 78365500 78365500 G A SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.640 p.D214N 1.000 pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 97 62 38.99 134 0 0.00 ADCK1 57143 genome.wustl.edu 37 14 78365503 78365503 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 78365503 78365503 G A SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.643 p.E215K 1.000 pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 94 61 39.35 133 0 0.00 ADCK1 57143 genome.wustl.edu 37 14 78366917 78366917 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 78366917 78366917 G T SNP ADCK1 ENST00000393639 human ensembl 70_37 +1 known nonsense c.598 p.E200* 0.009 NULL pfam_UbiB_dom - no_errors ADCK1 HGNC ENSG00000063761 42 5 10.64 34 0 0.00 ADCK1 57143 genome.wustl.edu 37 14 78399610 78399610 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 78399610 78399610 C G SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.1448 p.S483C 0.995 NULL pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 51 6 10.53 70 0 0.00 ADCK2 90956 genome.wustl.edu 37 7 140374050 140374050 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 140374050 140374050 C A SNP ADCK2 ENST00000072869 human ensembl 70_37 +1 known missense c.920 p.S307Y 0.968 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 43 12 21.82 73 0 0.00 ADCK3 56997 genome.wustl.edu 37 1 227149078 227149078 + RNA SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 227149078 227149078 C A SNP ADCK3 ENST00000489044 human ensembl 70_37 +1 known rna NULL NULL 0.946 - - - no_errors ADCK3 HGNC ENSG00000163050 61 18 22.78 60 0 0.00 ADCK3 56997 genome.wustl.edu 37 1 227170711 227170711 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 227170711 227170711 C T SNP ADCK3 ENST00000366777 human ensembl 70_37 +1 known silent c.1056 p.G352 0.985 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 27 14 34.15 37 0 0.00 ADCK3 56997 genome.wustl.edu 37 1 227171315 227171315 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 227171315 227171315 G C SNP ADCK3 ENST00000366777 human ensembl 70_37 +1 known missense c.1143 p.M381I 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 58 40 40.82 94 0 0.00 ADCK5 203054 genome.wustl.edu 37 8 145616340 145616340 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 145616340 145616340 G A SNP ADCK5 ENST00000308860 human ensembl 70_37 +1 known missense c.550 p.E184K 0.987 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 39 7 15.22 42 0 0.00 ADCK5 203054 genome.wustl.edu 37 8 145616352 145616352 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 8 145616352 145616352 G A SNP ADCK5 ENST00000308860 human ensembl 70_37 +1 known missense c.562 p.E188K 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 29 10 25.64 37 0 0.00 ADCY1 107 genome.wustl.edu 37 7 45614588 45614588 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 45614588 45614588 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.446 p.S149F 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 28 24 46.15 47 0 0.00 ADCY1 107 genome.wustl.edu 37 7 45662258 45662258 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 45662258 45662258 C G SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.936 p.F312L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 50 25 33.33 76 0 0.00 ADCY1 107 genome.wustl.edu 37 7 45697411 45697411 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 45697411 45697411 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.1234 p.R412C 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 96 15 13.51 49 0 0.00 ADCY1 107 genome.wustl.edu 37 7 45717777 45717777 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 45717777 45717777 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known nonsense c.1813 p.Q605* 0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 45 29 39.19 71 0 0.00 ADCY1 107 genome.wustl.edu 37 7 45726197 45726197 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 45726197 45726197 C G SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known silent c.2379 p.L793 0.960 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 46 28 37.84 93 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167778974 167778974 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 167778974 167778974 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4774 p.Q1592E 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 130 41 23.98 62 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167779063 167779063 + Nonsense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 167779063 167779063 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known nonsense c.4685 p.S1562* 0.981 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 39 5 11.36 50 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167791359 167791359 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 167791359 167791359 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4189 p.E1397Q 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 104 13 11.11 112 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167791359 167791359 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 167791359 167791359 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4189 p.E1397Q 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 70 15 17.65 41 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167823649 167823649 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167823649 167823649 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.2250 p.L750 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 52 27 34.18 67 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167825573 167825573 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 167825573 167825573 G A SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.2001 p.F667 0.991 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 37 13 26.00 40 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167825584 167825584 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 167825584 167825584 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1990 p.L664V 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 24 23 48.94 57 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167829121 167829121 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 167829121 167829121 G T SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1820 p.S607Y 0.062 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 20 8 28.57 49 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167839599 167839599 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 167839599 167839599 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1512 p.L504F 0.130 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 32 29 47.54 48 0 0.00 ADCY10 55811 genome.wustl.edu 37 1 167852753 167852753 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 167852753 167852753 G A SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.942 p.I314 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 142 28 16.47 243 0 0.00 ADCY10P1 221442 genome.wustl.edu 37 6 41085327 41085327 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 41085327 41085327 G C SNP ADCY10P1 ENST00000567255 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADCY10P1 HGNC ENSG00000161912 15 7 31.82 22 0 0.00 ADCY10P1 221442 genome.wustl.edu 37 6 41086700 41086700 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 41086700 41086700 G A SNP ADCY10P1 ENST00000567255 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors ADCY10P1 HGNC ENSG00000161912 29 5 14.71 20 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7396481 7396481 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 7396481 7396481 C T SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known silent c.72 p.D24 0.030 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 4 4 50.00 16 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7692129 7692129 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 7692129 7692129 C A SNP ADCY2 ENST00000513693 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors ADCY2 HGNC ENSG00000078295 30 6 16.67 27 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7698477 7698477 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 7698477 7698477 G A SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known missense c.1099 p.E367K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 23 20 46.51 31 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7802390 7802390 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 7802390 7802390 C T SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known silent c.2688 p.F896 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 46 11 19.30 74 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7802394 7802394 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 7802394 7802394 G C SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known missense c.2692 p.E898Q 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 24 22 47.83 49 0 0.00 ADCY2 108 genome.wustl.edu 37 5 7802445 7802445 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 7802445 7802445 C A SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known missense c.2743 p.L915I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 30 8 21.05 41 0 0.00 ADCY3 109 genome.wustl.edu 37 2 25061765 25061765 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 25061765 25061765 C G SNP ADCY3 ENST00000405392 human ensembl 70_37 -1 novel missense c.205 p.E69Q 0.328 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 86 29 25.22 142 0 0.00 ADCY3 109 genome.wustl.edu 37 2 25065203 25065203 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 25065203 25065203 C A SNP ADCY3 ENST00000260600 human ensembl 70_37 -1 known silent c.876 p.L292 0.997 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 39 12 23.53 47 0 0.00 ADCY3 109 genome.wustl.edu 37 2 25095469 25095469 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 25095469 25095469 C T SNP ADCY3 ENST00000260600 human ensembl 70_37 -1 known silent c.795 p.K265 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 37 22 37.29 38 0 0.00 ADCY4 196883 genome.wustl.edu 37 14 24787690 24787690 + Nonsense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 24787690 24787690 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known nonsense c.3166 p.Q1056* 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 32 9 21.43 75 0 0.00 ADCY4 196883 genome.wustl.edu 37 14 24791337 24791337 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 24791337 24791337 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known missense c.2521 p.L841F 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 43 17 28.33 57 0 0.00 ADCY4 196883 genome.wustl.edu 37 14 24792559 24792559 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 24792559 24792559 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known silent c.2148 p.I716 0.991 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 55 10 15.38 63 0 0.00 ADCY4 196883 genome.wustl.edu 37 14 24798280 24798280 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 24798280 24798280 G C SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known missense c.1511 p.S504C 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 40 14 25.93 25 0 0.00 ADCY4 196883 genome.wustl.edu 37 14 24798648 24798648 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 24798648 24798648 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known missense c.1309 p.R437W 0.997 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 30 22 42.31 43 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123003469 123003469 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 123003469 123003469 G T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.3772 p.P1258T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 22 4 15.38 41 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123008634 123008634 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 123008634 123008634 G C SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.3495 p.I1165M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 70 35 33.33 95 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123010071 123010071 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 123010071 123010071 G A SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.3216 p.V1072 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 39 20 33.90 41 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123010071 123010071 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 123010071 123010071 G C SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.3216 p.V1072 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 28 19 40.43 45 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123044256 123044256 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 123044256 123044256 G A SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.2001 p.I667 0.457 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 335 79 19.04 260 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123046604 123046604 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 123046604 123046604 C T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.1808 p.R603H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 46 11 19.30 24 0 0.00 ADCY5 111 genome.wustl.edu 37 3 123051434 123051434 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 123051434 123051434 C T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.1495 p.A499T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 6 8 57.14 20 0 0.00 ADCY6 112 genome.wustl.edu 37 12 49162768 49162768 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 49162768 49162768 C T SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known silent c.3333 p.V1111 0.994 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 48 23 32.39 68 0 0.00 ADCY6 112 genome.wustl.edu 37 12 49165635 49165635 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 49165635 49165635 A G SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.2909 p.L970P 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 55 40 42.11 58 0 0.00 ADCY6 112 genome.wustl.edu 37 12 49167273 49167273 + Missense_Mutation SNP A A T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 49167273 49167273 A T SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.2600 p.L867Q 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 32 20 38.46 18 0 0.00 ADCY6 112 genome.wustl.edu 37 12 49169780 49169780 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 49169780 49169780 G A SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.1772 p.S591F 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 54 34 38.64 25 0 0.00 ADCY6 112 genome.wustl.edu 37 12 49176440 49176440 + Missense_Mutation SNP C C T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 12 49176440 49176440 C T SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.778 p.A260T 0.999 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 32 4 11.11 29 0 0.00 ADCY7 113 genome.wustl.edu 37 16 50332831 50332831 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50332831 50332831 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known missense c.965 p.R322Q 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 126 23 15.44 195 0 0.00 ADCY7 113 genome.wustl.edu 37 16 50339488 50339488 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 50339488 50339488 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known missense c.1670 p.S557N 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 31 17 35.42 37 0 0.00 ADCY7 113 genome.wustl.edu 37 16 50344639 50344639 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 50344639 50344639 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known silent c.2202 p.S734 0.018 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 21 21 50.00 36 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131826399 131826399 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 131826399 131826399 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.2829 p.L943 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 121 17 12.32 115 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131848627 131848627 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 131848627 131848627 C T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.2571 p.L857 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 13 12 48.00 47 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131859744 131859744 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 131859744 131859744 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2428 p.D810H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 26 23 46.94 45 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131861929 131861929 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 131861929 131861929 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2331 p.W777C 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 44 13 22.81 27 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131880181 131880181 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 131880181 131880181 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2121 p.M707I 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 49 19 27.94 35 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131949350 131949350 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 131949350 131949350 C T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.1450 p.E484K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 32 22 40.74 58 0 0.00 ADCY8 114 genome.wustl.edu 37 8 131964194 131964194 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 131964194 131964194 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1161 p.I387 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 64 21 24.71 114 0 0.00 ADCY8 114 genome.wustl.edu 37 8 132002735 132002735 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 132002735 132002735 G T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1014 p.I338 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 15 9 37.50 33 0 0.00 ADCY8 114 genome.wustl.edu 37 8 132002738 132002738 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 132002738 132002738 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1011 p.F337 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 15 7 31.82 31 0 0.00 ADCY8 114 genome.wustl.edu 37 8 132051626 132051626 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 132051626 132051626 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.954 p.I318 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 17 18 51.43 18 0 0.00 ADCY8 114 genome.wustl.edu 37 8 132052022 132052022 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 132052022 132052022 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.558 p.N186 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 9 5 35.71 17 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4015835 4015835 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 4015835 4015835 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.4003 p.E1335K 0.947 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 14 12 46.15 25 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4016390 4016390 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 4016390 4016390 C G SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.3448 p.D1150H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 66 17 20.48 108 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4016873 4016873 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 4016873 4016873 G T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2965 p.L989M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 16 4 20.00 26 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4029235 4029235 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 4029235 4029235 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2561 p.R854H 0.851 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 28 26 48.15 96 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4039091 4039091 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4039091 4039091 C G SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2214 p.M738I 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 49 16 24.62 48 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4043460 4043460 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 4043460 4043460 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.1936 p.E646K 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 20 31 60.78 42 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4163953 4163953 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 4163953 4163953 G A SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known silent c.1491 p.C497 0.993 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 23 13 35.14 33 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4164414 4164414 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 16 4164414 4164414 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.1030 p.D344N 1.000 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 30 11 26.83 21 0 0.00 ADCY9 115 genome.wustl.edu 37 16 4165289 4165289 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 4165289 4165289 G C SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.155 p.S52C 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 49 7 12.50 38 0 0.00 ADCYAP1R1 117 genome.wustl.edu 37 7 31121330 31121330 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 31121330 31121330 G A SNP ADCYAP1R1 ENST00000304166 human ensembl 70_37 +1 known missense c.289 p.E97K 0.733 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 47 32 40.51 74 0 0.00 ADCYAP1R1 117 genome.wustl.edu 37 7 31135348 31135348 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 31135348 31135348 C A SNP ADCYAP1R1 ENST00000409489 human ensembl 70_37 +1 novel missense c.1114 p.H372N 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 58 30 34.09 98 0 0.00 ADCYAP1R1 117 genome.wustl.edu 37 7 31146287 31146287 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 31146287 31146287 C G SNP ADCYAP1R1 ENST00000304166 human ensembl 70_37 +1 known missense c.1396 p.L466V 1.000 prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 43 18 29.51 46 0 0.00 ADD1 118 genome.wustl.edu 37 4 2877717 2877717 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 2877717 2877717 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known silent c.75 p.F25 0.740 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 37 11 22.92 60 0 0.00 ADD1 118 genome.wustl.edu 37 4 2877727 2877727 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2877727 2877727 G C SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.85 p.D29H 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 9 22 70.97 49 0 0.00 ADD1 118 genome.wustl.edu 37 4 2886370 2886370 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2886370 2886370 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.487 p.Q163* 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 37 19 33.93 54 0 0.00 ADD1 118 genome.wustl.edu 37 4 2886385 2886385 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2886385 2886385 C G SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.502 p.H168D 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 29 4 12.12 55 0 0.00 ADD1 118 genome.wustl.edu 37 4 2906520 2906520 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 2906520 2906520 C A SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.1191 p.Y397* 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 15 7 31.82 39 0 0.00 ADD1 118 genome.wustl.edu 37 4 2906605 2906605 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 2906605 2906605 G A SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.1276 p.D426N 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 28 13 31.71 54 0 0.00 ADD1 118 genome.wustl.edu 37 4 2910284 2910284 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 2910284 2910284 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.1651 p.Q551* 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 45 6 11.76 77 0 0.00 ADD2 119 genome.wustl.edu 37 2 70890611 70890611 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 70890611 70890611 G A SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known silent c.2127 p.F709 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 12 13 52.00 58 0 0.00 ADD2 119 genome.wustl.edu 37 2 70904899 70904899 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 70904899 70904899 C A SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known missense c.1494 p.M498I 0.999 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 49 31 38.75 67 0 0.00 ADD2 119 genome.wustl.edu 37 2 70918050 70918050 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 70918050 70918050 C T SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known missense c.717 p.M239I 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 37 17 31.48 50 0 0.00 ADD3 120 genome.wustl.edu 37 10 111877134 111877134 + Missense_Mutation SNP T T A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 111877134 111877134 T A SNP ADD3 ENST00000356080 human ensembl 70_37 +1 known missense c.521 p.I174K 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 38 26 40.62 52 0 0.00 ADD3 120 genome.wustl.edu 37 10 111881894 111881894 + Silent SNP A A G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 111881894 111881894 A G SNP ADD3 ENST00000356080 human ensembl 70_37 +1 known silent c.987 p.G329 0.982 superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 127 38 23.03 159 0 0.00 ADD3 120 genome.wustl.edu 37 10 111884032 111884032 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 111884032 111884032 G A SNP ADD3 ENST00000356080 human ensembl 70_37 +1 known silent c.1401 p.T467 0.998 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 20 19 48.72 42 0 0.00 ADD3 120 genome.wustl.edu 37 10 111892229 111892229 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 111892229 111892229 C T SNP ADD3 ENST00000479805 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADD3 HGNC ENSG00000148700 14 6 30.00 24 0 0.00 ADGB 79747 genome.wustl.edu 37 6 147103320 147103320 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 147103320 147103320 G C SNP ADGB ENST00000397944 human ensembl 70_37 +1 known missense c.4027 p.E1343Q 0.992 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 36 19 34.55 29 0 0.00 ADH1B 125 genome.wustl.edu 37 4 100237074 100237074 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 100237074 100237074 G C SNP ADH1B ENST00000305046 human ensembl 70_37 -1 known missense c.548 p.S183C 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 48 9 15.79 84 0 0.00 ADH1B 125 genome.wustl.edu 37 4 100237128 100237128 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 100237128 100237128 G T SNP ADH1B ENST00000305046 human ensembl 70_37 -1 known nonsense c.494 p.S165* 0.989 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 60 19 24.05 229 0 0.00 ADH1B 125 genome.wustl.edu 37 4 100239094 100239094 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 100239094 100239094 C T SNP ADH1B ENST00000504498 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ADH1B HGNC ENSG00000196616 44 13 22.81 44 0 0.00 ADH4 127 genome.wustl.edu 37 4 100047767 100047767 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 100047767 100047767 C G SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known missense c.1153 p.D385H 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 161 22 12.02 211 0 0.00 ADH4 127 genome.wustl.edu 37 4 100047843 100047843 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 100047843 100047843 G A SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known silent c.1077 p.D359 0.991 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 19 10 34.48 32 0 0.00 ADH4 127 genome.wustl.edu 37 4 100048484 100048484 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 100048484 100048484 C T SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known silent c.912 p.L304 0.930 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 25 12 32.43 40 0 0.00 ADH5 128 genome.wustl.edu 37 4 100009952 100009953 + RNA INS - - G TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 4 100009952 100009953 - G INS ADH5 ENST00000508146 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.004 - - - no_errors ADH5 HGNC ENSG00000197894 8 5 38.46 11 0 0.00 ADH5 128 genome.wustl.edu 37 4 99993741 99993741 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 99993741 99993741 C T SNP ADH5 ENST00000296412 human ensembl 70_37 -1 known silent c.1083 p.L361 0.955 superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 35 5 12.50 46 0 0.00 ADH6 130 genome.wustl.edu 37 4 100129809 100129809 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 100129809 100129809 C G SNP ADH6 ENST00000504257 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ADH6 HGNC ENSG00000172955 15 6 28.57 40 0 0.00 ADH6 130 genome.wustl.edu 37 4 100129851 100129851 + Nonsense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 100129851 100129851 C A SNP ADH6 ENST00000394899 human ensembl 70_37 -1 known nonsense c.802 p.E268* 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 37 15 28.85 58 0 0.00 ADH6 130 genome.wustl.edu 37 4 100137074 100137074 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 100137074 100137074 C T SNP ADH6 ENST00000513262 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors ADH6 HGNC ENSG00000172955 38 29 43.28 28 0 0.00 ADH7 131 genome.wustl.edu 37 4 100349082 100349082 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 100349082 100349082 G T SNP ADH7 ENST00000209665 human ensembl 70_37 -1 known missense c.448 p.H150N 0.010 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 56 17 23.29 24 0 0.00 ADHFE1 137872 genome.wustl.edu 37 8 67357469 67357469 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 67357469 67357469 G C SNP ADHFE1 ENST00000396623 human ensembl 70_37 +1 known missense c.370 p.E124Q 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 115 25 17.86 86 0 0.00 ADIPOQ 9370 genome.wustl.edu 37 3 186570919 186570919 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 186570919 186570919 G A SNP ADIPOQ ENST00000320741 human ensembl 70_37 +1 known silent c.72 p.G24 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors ADIPOQ HGNC ENSG00000181092 33 25 42.37 71 0 0.00 ADIPOR2 79602 genome.wustl.edu 37 12 1863672 1863672 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 1863672 1863672 C G SNP ADIPOR2 ENST00000357103 human ensembl 70_37 +1 known missense c.163 p.H55D 0.799 NULL pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 19 4 16.67 25 0 0.00 ADIPOR2 79602 genome.wustl.edu 37 12 1882007 1882007 + Splice_Site SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 1882007 1882007 G A SNP ADIPOR2 ENST00000357103 human ensembl 70_37 +1 known splice_site c.172-1 e2-1 0.996 - - - no_errors ADIPOR2 HGNC ENSG00000006831 75 12 13.79 78 0 0.00 ADK 132 genome.wustl.edu 37 10 76429981 76429981 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 76429981 76429981 G A SNP ADK ENST00000286621 human ensembl 70_37 +1 known silent c.918 p.Q306 1.000 pfam_PfkB pfam_PfkB,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 14 6 30.00 42 0 0.00 ADNP 23394 genome.wustl.edu 37 20 49508892 49508892 + Nonsense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 49508892 49508892 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.2359 p.E787* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 8 22 73.33 32 0 0.00 ADNP 23394 genome.wustl.edu 37 20 49509062 49509062 + Missense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 49509062 49509062 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known missense c.2189 p.R730L 0.974 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 8 23 74.19 42 0 0.00 ADNP 23394 genome.wustl.edu 37 20 49509639 49509639 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 49509639 49509639 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.1612 p.E538* 1.000 pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 24 8 25.00 19 0 0.00 ADNP 23394 genome.wustl.edu 37 20 49510335 49510335 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49510335 49510335 G A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.916 p.R306* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 35 18 33.96 61 0 0.00 ADNP2 22850 genome.wustl.edu 37 18 77895867 77895867 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 77895867 77895867 G A SNP ADNP2 ENST00000262198 human ensembl 70_37 +1 known silent c.2571 p.V857 0.266 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 88 29 24.79 127 0 0.00 ADNP2 22850 genome.wustl.edu 37 18 77896353 77896353 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 77896353 77896353 A G SNP ADNP2 ENST00000262198 human ensembl 70_37 +1 known silent c.3057 p.R1019 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 15 9 37.50 41 0 0.00 ADO 84890 genome.wustl.edu 37 10 64565423 64565423 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 64565423 64565423 G A SNP ADO ENST00000373783 human ensembl 70_37 +1 known missense c.604 p.A202T 0.999 pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors ADO HGNC ENSG00000181915 51 7 12.07 29 0 0.00 ADORA1 134 genome.wustl.edu 37 1 203134455 203134455 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 203134455 203134455 C T SNP ADORA1 ENST00000309502 human ensembl 70_37 +1 known silent c.408 p.F136 0.966 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors ADORA1 HGNC ENSG00000163485 59 14 19.18 77 0 0.00 ADORA1 134 genome.wustl.edu 37 1 203134602 203134602 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 203134602 203134602 C A SNP ADORA1 ENST00000309502 human ensembl 70_37 +1 known missense c.555 p.F185L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors ADORA1 HGNC ENSG00000163485 48 18 27.27 87 0 0.00 ADORA3 140 genome.wustl.edu 37 1 112029268 112029268 + Nonsense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 112029268 112029268 G C SNP ADORA3 ENST00000369716 human ensembl 70_37 -1 known nonsense c.812 p.S271* 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 17 15 46.88 60 0 0.00 ADORA3 140 genome.wustl.edu 37 1 112042770 112042770 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 112042770 112042770 G C SNP ADORA3 ENST00000241356 human ensembl 70_37 -1 known missense c.759 p.I253M 0.059 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 15 13 46.43 44 0 0.00 ADORA3 140 genome.wustl.edu 37 1 112106482 112106482 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 112106482 112106482 C G SNP ADORA3 ENST00000369717 human ensembl 70_37 -1 known missense c.93 p.L31F 0.000 NULL NULL - no_errors ADORA3 HGNC ENSG00000121933 24 4 14.29 26 0 0.00 ADPGK 83440 genome.wustl.edu 37 15 73044861 73044861 + Nonsense_Mutation SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 73044861 73044861 C A SNP ADPGK ENST00000311669 human ensembl 70_37 -1 known nonsense c.1312 p.E438* 0.954 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 25 13 34.21 45 0 0.00 ADPGK-AS1 100287559 genome.wustl.edu 37 15 73076271 73076271 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 73076271 73076271 C T SNP ADPGK-AS1 ENST00000563592 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADPGK-AS1 HGNC ENSG00000260898 36 4 10.00 66 0 0.00 ADPGK-AS1 100287559 genome.wustl.edu 37 15 73076523 73076523 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 73076523 73076523 G A SNP ADPGK-AS1 ENST00000563592 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADPGK-AS1 HGNC ENSG00000260898 11 5 31.25 23 0 0.00 ADPRH 141 genome.wustl.edu 37 3 119301229 119301229 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 119301229 119301229 G T SNP ADPRH ENST00000357003 human ensembl 70_37 +1 known silent c.213 p.G71 0.003 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 50 12 19.35 54 0 0.00 ADPRHL1 113622 genome.wustl.edu 37 13 114083292 114083292 + Nonsense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 13 114083292 114083292 G T SNP ADPRHL1 ENST00000375418 human ensembl 70_37 -1 known nonsense c.621 p.C207* 0.999 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 21 4 16.00 19 0 0.00 ADRA1A 148 genome.wustl.edu 37 8 26614137 26614137 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 26614137 26614137 G A SNP ADRA1A ENST00000380581 human ensembl 70_37 -1 known missense c.1043 p.S348F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrene_rcpt_A1Cs,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 45 37 45.12 98 0 0.00 ADRA1A 148 genome.wustl.edu 37 8 26721793 26721793 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 26721793 26721793 C A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.694 p.V232L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 21 9 30.00 34 0 0.00 ADRA1A 148 genome.wustl.edu 37 8 26721793 26721793 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 26721793 26721793 C A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.694 p.V232L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 27 16 37.21 18 0 0.00 ADRA1A 148 genome.wustl.edu 37 8 26722096 26722096 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 26722096 26722096 G A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.391 p.P131S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 25 14 35.90 46 0 0.00 ADRA1A 148 genome.wustl.edu 37 8 26722241 26722241 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 26722241 26722241 G A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known silent c.246 p.F82 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 30 6 16.67 20 0 0.00 ADRA1B 147 genome.wustl.edu 37 5 159344627 159344627 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 159344627 159344627 G T SNP ADRA1B ENST00000306675 human ensembl 70_37 +1 known missense c.715 p.A239S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1B HGNC ENSG00000170214 36 4 10.00 52 0 0.00 ADRA1B 147 genome.wustl.edu 37 5 159344660 159344660 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 159344660 159344660 G A SNP ADRA1B ENST00000306675 human ensembl 70_37 +1 known missense c.748 p.E250K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1B HGNC ENSG00000170214 12 4 25.00 30 0 0.00 ADRA1D 146 genome.wustl.edu 37 20 4202235 4202235 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 20 4202235 4202235 C G SNP ADRA1D ENST00000379453 human ensembl 70_37 -1 known missense c.1654 p.E552Q 0.332 prints_Adren_rcpt_A1A pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A1A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1D HGNC ENSG00000171873 65 39 37.50 100 0 0.00 ADRA2A 150 genome.wustl.edu 37 10 112838144 112838144 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 112838144 112838144 C G SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ENSG00000150594 48 16 25.00 59 0 0.00 ADRA2A 150 genome.wustl.edu 37 10 112839008 112839008 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 112839008 112839008 G A SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1254 p.V418 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ENSG00000150594 155 62 28.44 182 0 0.00 ADRA2A 150 genome.wustl.edu 37 10 112839032 112839032 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 112839032 112839032 C T SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1278 p.F426 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ENSG00000150594 179 51 22.08 260 0 0.00 ADRA2A 150 genome.wustl.edu 37 10 112839110 112839110 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 112839110 112839110 C T SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1356 p.F452 1.000 prints_Adren_rcpt_A2A,prints_Adrnrgc_rcpt,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ENSG00000150594 8 9 52.94 28 0 0.00 ADRA2B 151 genome.wustl.edu 37 2 96781784 96781784 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 96781784 96781784 C T SNP ADRA2B ENST00000409345 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2B HGNC ENSG00000222040 22 20 47.62 43 0 0.00 ADRA2C 152 genome.wustl.edu 37 4 3769489 3769489 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 3769489 3769489 G T SNP ADRA2C ENST00000330055 human ensembl 70_37 +1 known missense c.1156 p.V386L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2C,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2C HGNC ENSG00000184160 16 4 20.00 20 0 0.00 ADRB1 153 genome.wustl.edu 37 10 115804371 115804371 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115804371 115804371 C T SNP ADRB1 ENST00000369295 human ensembl 70_37 +1 known silent c.480 p.I160 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B1,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 30 8 21.05 23 0 0.00 ADRB2 154 genome.wustl.edu 37 5 148206530 148206530 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 148206530 148206530 G A SNP ADRB2 ENST00000305988 human ensembl 70_37 +1 known missense c.136 p.A46T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC ENSG00000169252 27 15 35.71 63 0 0.00 ADRB2 154 genome.wustl.edu 37 5 148206606 148206608 + In_Frame_Del DEL TCA TCA - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 148206606 148206608 TCA - DEL ADRB2 ENST00000305988 human ensembl 70_37 +1 known in_frame_del c.212_214 p.I72in_frame_del 1.000:1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC ENSG00000169252 28 17 37.78 40 0 0.00 ADRB2 154 genome.wustl.edu 37 5 148207390 148207390 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 148207390 148207390 C T SNP ADRB2 ENST00000305988 human ensembl 70_37 +1 known silent c.996 p.F332 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC ENSG00000169252 37 22 37.29 27 0 0.00 ADRBK1 156 genome.wustl.edu 37 11 67044812 67044812 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67044812 67044812 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known silent c.183 p.Q61 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 56 20 26.32 107 0 0.00 ADRBK1 156 genome.wustl.edu 37 11 67049187 67049187 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67049187 67049187 G C SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known missense c.814 p.D272H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 23 19 45.24 41 0 0.00 ADRBK1 156 genome.wustl.edu 37 11 67050286 67050286 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67050286 67050286 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known silent c.1224 p.T408 0.891 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 11 5 31.25 18 0 0.00 ADRBK1 156 genome.wustl.edu 37 11 67052440 67052440 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 67052440 67052440 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known missense c.1777 p.E593K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 34 14 29.17 62 0 0.00 ADRBK1 156 genome.wustl.edu 37 11 67053974 67053974 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67053974 67053974 G C SNP ADRBK1 ENST00000526285 human ensembl 70_37 +1 novel silent c.1206 p.V402 1.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 70 16 18.60 89 0 0.00 ADRBK2 157 genome.wustl.edu 37 22 26040572 26040572 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 26040572 26040572 T G SNP ADRBK2 ENST00000324198 human ensembl 70_37 +1 known missense c.204 p.F68L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 23 9 28.12 70 0 0.00 ADRBK2 157 genome.wustl.edu 37 22 26110434 26110434 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 26110434 26110434 G T SNP ADRBK2 ENST00000324198 human ensembl 70_37 +1 known missense c.1551 p.W517C 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 22 3 12.00 43 0 0.00 ADRM1 11047 genome.wustl.edu 37 20 60881738 60881738 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 60881738 60881738 G A SNP ADRM1 ENST00000253003 human ensembl 70_37 +1 known missense c.489 p.M163I 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 20 7 25.93 24 0 0.00 ADRM1 11047 genome.wustl.edu 37 20 60882684 60882684 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 60882684 60882684 C T SNP ADRM1 ENST00000253003 human ensembl 70_37 +1 known missense c.656 p.S219L 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 28 4 12.50 29 0 0.00 ADSL 158 genome.wustl.edu 37 22 40745946 40745946 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 40745946 40745946 G A SNP ADSL ENST00000454266 human ensembl 70_37 +1 known silent c.264 p.V88 0.999 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 26 11 29.73 27 0 0.00 ADSL 158 genome.wustl.edu 37 22 40759015 40759015 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 40759015 40759015 C T SNP ADSL ENST00000454266 human ensembl 70_37 +1 known silent c.1083 p.T361 0.407 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 148 32 17.78 237 0 0.00 ADSS 159 genome.wustl.edu 37 1 244586142 244586143 + Frame_Shift_Ins INS - - TT TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 244586142 244586143 - TT INS ADSS ENST00000366535 human ensembl 70_37 -1 known frame_shift_ins c.658_657 p.L219fs 1.000:0.999 pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 82 21 20.39 91 0 0.00 ADSSL1 122622 genome.wustl.edu 37 14 105196232 105196232 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 105196232 105196232 G T SNP ADSSL1 ENST00000332972 human ensembl 70_37 +1 known missense c.3 p.M1I 0.081 NULL pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 6 3 33.33 28 0 0.00 ADSSL1 122622 genome.wustl.edu 37 14 105196350 105196350 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 105196350 105196350 C T SNP ADSSL1 ENST00000332972 human ensembl 70_37 +1 known missense c.121 p.P41S 0.048 NULL pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 8 5 38.46 12 0 0.00 AEBP1 165 genome.wustl.edu 37 7 44149878 44149878 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 44149878 44149878 G C SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known missense c.1333 p.E445Q 0.974 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 19 12 38.71 64 0 0.00 AEBP1 165 genome.wustl.edu 37 7 44151818 44151818 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 44151818 44151818 C G SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known silent c.2115 p.L705 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 11 14 56.00 47 0 0.00 AEBP1 165 genome.wustl.edu 37 7 44152195 44152195 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 44152195 44152195 G C SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known missense c.2256 p.E752D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 42 9 17.65 65 0 0.00 AEBP2 121536 genome.wustl.edu 37 12 19615499 19615499 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 19615499 19615499 C T SNP AEBP2 ENST00000398864 human ensembl 70_37 +1 known missense c.727 p.P243S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 58 12 17.14 54 0 0.00 AEBP2 121536 genome.wustl.edu 37 12 19646858 19646858 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 19646858 19646858 C T SNP AEBP2 ENST00000398864 human ensembl 70_37 +1 known missense c.1112 p.S371F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 62 10 13.70 96 0 0.00 AFAP1 60312 genome.wustl.edu 37 4 7787927 7787927 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 7787927 7787927 G A SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known silent c.1524 p.N508 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 28 21 42.86 59 0 0.00 AFAP1 60312 genome.wustl.edu 37 4 7873707 7873707 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 7873707 7873707 G T SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known missense c.99 p.N33K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 31 4 11.43 58 0 0.00 AFAP1 60312 genome.wustl.edu 37 4 7873716 7873716 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 7873716 7873716 C T SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known silent c.90 p.V30 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 67 17 20.24 98 0 0.00 AFAP1L1 134265 genome.wustl.edu 37 5 148682038 148682038 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 148682038 148682038 G T SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known nonsense c.385 p.E129* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 21 16 43.24 30 0 0.00 AFAP1L1 134265 genome.wustl.edu 37 5 148695471 148695471 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 148695471 148695471 G A SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known missense c.1108 p.D370N 0.914 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 36 19 34.55 47 0 0.00 AFAP1L1 134265 genome.wustl.edu 37 5 148697431 148697431 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 148697431 148697431 C A SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known silent c.1407 p.A469 0.967 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 23 21 47.73 36 0 0.00 AFAP1L2 84632 genome.wustl.edu 37 10 116054775 116054776 + RNA INS - - A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 116054775 116054776 - A INS AFAP1L2 ENST00000491814 human ensembl 70_37 -1 known rna NULL NULL 0.222:0.000 - - - no_errors AFAP1L2 HGNC ENSG00000169129 18 3 14.29 36 0 0.00 AFAP1L2 84632 genome.wustl.edu 37 10 116060344 116060344 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 116060344 116060344 G A SNP AFAP1L2 ENST00000545353 human ensembl 70_37 -1 known missense c.1807 p.P603S 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 64 46 41.82 85 0 0.00 AFAP1L2 84632 genome.wustl.edu 37 10 116064526 116064526 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 116064526 116064526 G A SNP AFAP1L2 ENST00000545353 human ensembl 70_37 -1 known silent c.1395 p.L465 0.988 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 52 11 17.46 45 0 0.00 AFF1 4299 genome.wustl.edu 37 4 87967934 87967934 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 87967934 87967934 C G SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.247 p.H83D 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 63 17 21.25 30 0 0.00 AFF1 4299 genome.wustl.edu 37 4 88036015 88036015 + Missense_Mutation SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 4 88036015 88036015 A G SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2030 p.K677R 0.995 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 4 50 92.59 47 0 0.00 AFF1 4299 genome.wustl.edu 37 4 88047478 88047478 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 88047478 88047478 C T SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2801 p.S934L 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 59 23 28.05 76 0 0.00 AFF1 4299 genome.wustl.edu 37 4 88048811 88048811 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88048811 88048811 C T SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2920 p.H974Y 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 83 26 23.64 93 0 0.00 AFF2 2334 genome.wustl.edu 37 X 147733596 147733596 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 147733596 147733596 G A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.124 p.D42N 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 55 39 41.49 111 1 0.89 AFF2 2334 genome.wustl.edu 37 X 147743667 147743667 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 147743667 147743667 C A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.419 p.S140Y 0.934 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 14 10 41.67 46 0 0.00 AFF2 2334 genome.wustl.edu 37 X 148037544 148037544 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 148037544 148037544 G C SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.1969 p.E657Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 10 3 23.08 27 0 0.00 AFF2 2334 genome.wustl.edu 37 X 148037884 148037884 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 148037884 148037884 C A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.2309 p.S770Y 0.006 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 57 11 16.18 80 0 0.00 AFF2 2334 genome.wustl.edu 37 X 148055117 148055117 + Silent SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 148055117 148055117 T A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known silent c.3384 p.S1128 0.160 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 22 7 24.14 23 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100185373 100185373 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 100185373 100185373 G A SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2998 p.R1000C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 131 55 29.57 186 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100185376 100185376 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 100185376 100185376 G A SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2995 p.P999S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 10 4 28.57 40 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100199393 100199393 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 100199393 100199393 G C SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2735 p.S912C 0.924 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 36 10 21.74 47 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100209829 100209829 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 100209829 100209829 G T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2369 p.S790Y 0.969 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 25 5 16.67 62 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100210165 100210165 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 100210165 100210165 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2033 p.R678Q 0.990 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 39 8 17.02 42 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100217938 100217938 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 100217938 100217938 C G SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1405 p.E469Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 26 18 40.91 44 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100217938 100217938 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 100217938 100217938 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 33 6 15.38 44 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100289020 100289020 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 100289020 100289020 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1198 p.D400N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 21 17 44.74 35 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100343566 100343566 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 100343566 100343566 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1139 p.S380N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 16 16 50.00 29 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100623769 100623769 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 100623769 100623769 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.403 p.E135K 0.953 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 32 18 36.00 112 0 0.00 AFF3 3899 genome.wustl.edu 37 2 100728975 100728975 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 100728975 100728975 G A SNP AFF3 ENST00000483600 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AFF3 HGNC ENSG00000144218 41 10 19.61 42 0 0.00 AFF4 27125 genome.wustl.edu 37 5 132232824 132232824 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 132232824 132232824 G C SNP AFF4 ENST00000265343 human ensembl 70_37 -1 known missense c.1498 p.Q500E 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 50 6 10.71 68 0 0.00 AFF4 27125 genome.wustl.edu 37 5 132272780 132272780 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 132272780 132272780 G C SNP AFF4 ENST00000265343 human ensembl 70_37 -1 known silent c.102 p.L34 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 39 11 22.00 41 0 0.00 AFG3L1P 172 genome.wustl.edu 37 16 90059199 90059199 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 90059199 90059199 C T SNP AFG3L1P ENST00000388970 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AFG3L1P HGNC ENSG00000223959 50 6 10.71 65 0 0.00 AFG3L1P 172 genome.wustl.edu 37 16 90060285 90060285 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 90060285 90060285 C A SNP AFG3L1P ENST00000388970 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors AFG3L1P HGNC ENSG00000223959 22 26 54.17 28 0 0.00 AFG3L2 10939 genome.wustl.edu 37 18 12353040 12353040 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 12353040 12353040 C G SNP AFG3L2 ENST00000269143 human ensembl 70_37 -1 known missense c.1282 p.E428Q 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 39 32 45.07 70 0 0.00 AFM 173 genome.wustl.edu 37 4 74354469 74354469 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 4 74354469 74354469 G T SNP AFM ENST00000226355 human ensembl 70_37 +1 known missense c.836 p.R279L 0.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 50 40 44.44 78 0 0.00 AFMID 125061 genome.wustl.edu 37 17 76203007 76203007 + Missense_Mutation SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 17 76203007 76203007 A G SNP AFMID ENST00000327898 human ensembl 70_37 +1 known missense c.916 p.I306V 0.984 NULL pfam_AB_hydrolase_3 - no_errors AFMID HGNC ENSG00000183077 38 12 24.00 33 0 0.00 AFP 174 genome.wustl.edu 37 4 74304004 74304004 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 74304004 74304004 C T SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.251 p.S84L 0.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 9 6 40.00 12 0 0.00 AFP 174 genome.wustl.edu 37 4 74313271 74313271 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 74313271 74313271 A T SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.936 p.Q312H 0.001 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 10 4 28.57 39 0 0.00 AFP 174 genome.wustl.edu 37 4 74319612 74319612 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 74319612 74319612 G C SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.1783 p.E595Q 0.973 superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 10 3 23.08 20 0 0.00 AFP 174 genome.wustl.edu 37 4 74321433 74321433 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 74321433 74321433 G A SNP AFP ENST00000506820 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AFP HGNC ENSG00000081051 55 18 24.66 49 0 0.00 AFTPH 54812 genome.wustl.edu 37 2 64779560 64779560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 64779560 64779560 C G SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known missense c.952 p.P318A 0.001 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 12 13 52.00 17 0 0.00 AFTPH 54812 genome.wustl.edu 37 2 64780340 64780340 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 64780340 64780340 G A SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known missense c.1732 p.E578K 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 36 11 22.92 21 0 0.00 AFTPH 54812 genome.wustl.edu 37 2 64800109 64800109 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64800109 64800109 G A SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known silent c.2301 p.L767 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 52 18 25.71 63 0 0.00 AGAP1 116987 genome.wustl.edu 37 2 236649682 236649682 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 236649682 236649682 C T SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known missense c.386 p.P129L 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 37 11 22.92 49 0 0.00 AGAP1 116987 genome.wustl.edu 37 2 236653346 236653346 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 236653346 236653346 C A SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known missense c.401 p.A134D 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 74 36 32.73 81 0 0.00 AGAP1-IT1 100506749 genome.wustl.edu 37 2 236416021 236416021 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 236416021 236416021 C A SNP AGAP1-IT1 ENST00000440498 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AGAP1-IT1 HGNC ENSG00000235529 28 20 41.67 29 0 0.00 AGAP11 119385 genome.wustl.edu 37 10 88760446 88760446 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 88760446 88760446 A C SNP AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC ENSG00000151303 13 8 38.10 24 0 0.00 AGAP11 119385 genome.wustl.edu 37 10 88760456 88760457 + RNA INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 88760456 88760457 - T INS AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors AGAP11 HGNC ENSG00000151303 17 3 15.00 32 0 0.00 AGAP11 119385 genome.wustl.edu 37 10 88760457 88760457 + RNA DEL T T - TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 10 88760457 88760457 T - DEL AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC ENSG00000151303 15 4 21.05 22 0 0.00 AGAP11 119385 genome.wustl.edu 37 10 88760503 88760503 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 88760503 88760503 C G SNP AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.148 - - - no_errors AGAP11 HGNC ENSG00000151303 5 8 61.54 14 0 0.00 AGAP11 119385 genome.wustl.edu 37 10 88768653 88768653 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 88768653 88768653 C T SNP AGAP11 ENST00000433214 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors AGAP11 HGNC ENSG00000151303 103 82 44.09 130 0 0.00 AGAP2 116986 genome.wustl.edu 37 12 58121321 58121321 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 58121321 58121321 C G SNP AGAP2 ENST00000547588 human ensembl 70_37 -1 known missense c.2902 p.E968Q 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 17 10 37.04 27 0 0.00 AGAP3 116988 genome.wustl.edu 37 7 150814254 150814254 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150814254 150814254 G C SNP AGAP3 ENST00000397238 human ensembl 70_37 +1 known missense c.463 p.E155Q 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 27 7 20.59 68 0 0.00 AGAP3 116988 genome.wustl.edu 37 7 150814771 150814771 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 150814771 150814771 G A SNP AGAP3 ENST00000397238 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 25 8 24.24 25 0 0.00 AGAP5 729092 genome.wustl.edu 37 10 75434741 75434741 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75434741 75434741 C G SNP AGAP5 ENST00000374094 human ensembl 70_37 -1 known silent c.1677 p.T559 0.989 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 192 35 15.35 158 0 0.00 AGAP5 729092 genome.wustl.edu 37 10 75434831 75434831 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75434831 75434831 C T SNP AGAP5 ENST00000374094 human ensembl 70_37 -1 known silent c.1587 p.R529 0.921 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 75 27 26.47 76 0 0.00 AGAP6 414189 genome.wustl.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 51749089 51749089 C G SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known missense c.245 p.A82G 0.571 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 56 8 12.50 108 1 0.92 AGAP6 414189 genome.wustl.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 51749117 51749117 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known silent c.273 p.Q91 0.950 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 51 8 13.56 103 1 0.96 AGAP6 414189 genome.wustl.edu 37 10 51768631 51768631 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 51768631 51768631 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known missense c.746 p.R249H 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 120 73 37.82 227 0 0.00 AGAP6 414189 genome.wustl.edu 37 10 51769259 51769259 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 51769259 51769259 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known silent c.1374 p.L458 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 40 19 32.20 84 0 0.00 AGAP6 414189 genome.wustl.edu 37 10 51769332 51769332 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 51769332 51769332 G T SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known nonsense c.1447 p.E483* 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 66 37 35.92 116 0 0.00 AGAP7 653268 genome.wustl.edu 37 10 51483213 51483213 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 51483213 51483213 C G SNP AGAP7 ENST00000374095 human ensembl 70_37 -1 known missense c.253 p.E85Q 0.991 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 35 25 41.67 84 0 0.00 AGBL1 123624 genome.wustl.edu 37 15 86697674 86697674 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 86697674 86697674 A G SNP AGBL1 ENST00000441037 human ensembl 70_37 +1 known silent c.138 p.G46 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 43 16 27.12 66 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134674004 134674004 + Nonsense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 134674004 134674004 G T SNP AGBL3 ENST00000436302 human ensembl 70_37 +1 known nonsense c.67 p.E23* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 17 4 19.05 23 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134678270 134678270 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 134678270 134678270 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.73 p.P25S 0.982 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 85 78 47.56 108 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134678382 134678382 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 134678382 134678382 G A SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.185 p.R62Q 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 43 39 47.56 60 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134730620 134730620 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 134730620 134730620 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.1721 p.S574L 0.894 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 29 14 32.56 32 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134766496 134766496 + Frame_Shift_Del DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 134766496 134766496 T - DEL AGBL3 ENST00000458078 human ensembl 70_37 +1 known frame_shift_del c.1986 p.Y663fs 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 15 2 11.76 45 0 0.00 AGBL3 340351 genome.wustl.edu 37 7 134800335 134800335 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 134800335 134800335 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.2479 p.P827S 0.001 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 18 3 14.29 47 0 0.00 AGBL4 84871 genome.wustl.edu 37 1 49100248 49100248 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 49100248 49100248 G A SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known missense c.868 p.R290C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 20 17 45.95 64 0 0.00 AGBL4 84871 genome.wustl.edu 37 1 49511375 49511375 + Missense_Mutation SNP C C A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 49511375 49511375 C A SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known missense c.475 p.D159Y 1.000 NULL pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 18 15 45.45 45 0 0.00 AGBL4-IT1 100874313 genome.wustl.edu 37 1 49840018 49840019 + Splice_Site INS - - A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 49840018 49840019 - A INS AGBL4-IT1 ENST00000457061 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.000:0.005 - - - no_errors AGBL4-IT1 HGNC ENSG00000225623 52 9 14.75 32 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27275933 27275933 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27275933 27275933 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.107 p.G36A 0.022 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 33 9 21.43 35 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27275933 27275933 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27275933 27275933 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.107 p.G36A 0.022 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 62 10 13.89 98 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276028 27276028 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276028 27276028 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 28 14 33.33 36 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276028 27276028 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276028 27276028 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 61 19 23.75 109 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276036 27276036 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276036 27276036 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.210 p.G70 0.985 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 29 12 29.27 36 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276036 27276036 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276036 27276036 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.210 p.G70 0.985 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 57 17 22.97 102 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276285 27276285 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 27276285 27276285 C T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.231 p.F77 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 109 34 23.78 152 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276872 27276872 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276872 27276872 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.496 p.E166* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 127 40 23.95 170 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27276872 27276872 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276872 27276872 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.496 p.E166* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 23 6 20.69 40 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278030 27278030 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278030 27278030 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.817 p.D273N 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 115 45 28.12 167 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278030 27278030 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278030 27278030 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.817 p.D273N 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 25 8 24.24 37 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278089 27278089 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278089 27278089 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.876 p.L292 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 103 49 32.24 176 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278089 27278089 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278089 27278089 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.876 p.L292 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 27 9 25.00 32 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278589 27278589 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278589 27278589 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.948 p.L316 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 47 20 29.85 88 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278878 27278878 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278878 27278878 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1237 p.E413* 0.004 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 158 66 29.46 264 1 0.38 AGBL5 60509 genome.wustl.edu 37 2 27278878 27278878 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278878 27278878 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1237 p.E413* 0.004 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 25 9 26.47 42 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278881 27278881 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 27278881 27278881 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1240 p.E414Q 0.429 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 48 29 37.66 50 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278920 27278920 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27278920 27278920 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1279 p.V427I 0.994 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 41 16 28.07 74 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278963 27278963 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278963 27278963 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1322 p.G441D 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 159 47 22.71 278 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27278963 27278963 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278963 27278963 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1322 p.G441D 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 25 10 28.57 42 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27281371 27281371 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 27281371 27281371 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1775 p.W592* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 64 27 29.67 77 0 0.00 AGBL5 60509 genome.wustl.edu 37 2 27293078 27293078 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27293078 27293078 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.2608 p.E870Q 0.994 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 49 11 18.33 50 0 0.00 AGER 177 genome.wustl.edu 37 6 32148952 32148952 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 32148952 32148952 C T SNP AGER ENST00000375070 human ensembl 70_37 -1 known missense c.1276 p.E426K 0.206 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AGER HGNC ENSG00000204305 23 8 25.81 40 0 0.00 AGER 177 genome.wustl.edu 37 6 32148988 32148988 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 32148988 32148988 C G SNP AGER ENST00000375070 human ensembl 70_37 -1 known missense c.1240 p.E414Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AGER HGNC ENSG00000204305 34 16 32.00 59 0 0.00 AGER 177 genome.wustl.edu 37 6 32149006 32149006 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 32149006 32149006 C T SNP AGER ENST00000375070 human ensembl 70_37 -1 known missense c.1222 p.E408K 0.647 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AGER HGNC ENSG00000204305 33 13 28.26 55 0 0.00 AGFG1 3267 genome.wustl.edu 37 2 228389568 228389568 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 228389568 228389568 C T SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.631 p.P211S 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 51 26 33.77 54 0 0.00 AGFG1 3267 genome.wustl.edu 37 2 228398274 228398274 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228398274 228398274 C A SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.896 p.A299D 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 16 8 33.33 42 0 0.00 AGFG1 3267 genome.wustl.edu 37 2 228401373 228401373 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 228401373 228401373 C G SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.1310 p.S437C 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 17 4 19.05 13 0 0.00 AGFG2 3268 genome.wustl.edu 37 7 100137181 100137181 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 100137181 100137181 C T SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.212 p.S71F 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 5 4 44.44 16 0 0.00 AGFG2 3268 genome.wustl.edu 37 7 100146506 100146506 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 100146506 100146506 G A SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.283 p.E95K 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 66 10 13.16 58 0 0.00 AGFG2 3268 genome.wustl.edu 37 7 100151041 100151041 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100151041 100151041 C T SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.503 p.S168F 0.998 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 23 15 39.47 58 0 0.00 AGGF1 55109 genome.wustl.edu 37 5 76331488 76331488 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 76331488 76331488 G C SNP AGGF1 ENST00000312916 human ensembl 70_37 +1 known missense c.436 p.E146Q 0.521 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 33 11 25.00 32 0 0.00 AGL 178 genome.wustl.edu 37 1 100336057 100336057 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 100336057 100336057 C T SNP AGL ENST00000294724 human ensembl 70_37 +1 known missense c.766 p.R256C 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 40 19 32.20 47 0 0.00 AGL 178 genome.wustl.edu 37 1 100340197 100340197 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 100340197 100340197 C G SNP AGL ENST00000477753 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AGL HGNC ENSG00000162688 29 13 30.95 37 0 0.00 AGL 178 genome.wustl.edu 37 1 100347192 100347192 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 100347192 100347192 C T SNP AGL ENST00000294724 human ensembl 70_37 +1 known silent c.2253 p.F751 1.000 tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 20 24 54.55 70 0 0.00 AGMAT 79814 genome.wustl.edu 37 1 15904321 15904321 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 15904321 15904321 C T SNP AGMAT ENST00000375826 human ensembl 70_37 -1 known silent c.759 p.K253 1.000 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 71 28 28.28 67 0 0.00 AGMAT 79814 genome.wustl.edu 37 1 15905370 15905370 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 15905370 15905370 C T SNP AGMAT ENST00000375826 human ensembl 70_37 -1 known missense c.704 p.R235K 0.961 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 19 7 26.92 31 0 0.00 AGPAT1 10554 genome.wustl.edu 37 6 32137054 32137054 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 32137054 32137054 C T SNP AGPAT1 ENST00000336984 human ensembl 70_37 -1 known silent c.851 p.*284 0.462 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT1 HGNC ENSG00000204310 58 20 25.64 56 0 0.00 AGPAT2 10555 genome.wustl.edu 37 9 139568327 139568327 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 139568327 139568327 C T SNP AGPAT2 ENST00000371696 human ensembl 70_37 -1 known silent c.714 p.A238 0.001 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC ENSG00000169692 43 37 46.25 95 0 0.00 AGPAT2 10555 genome.wustl.edu 37 9 139571111 139571111 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 139571111 139571111 C A SNP AGPAT2 ENST00000371696 human ensembl 70_37 -1 known nonsense c.514 p.E172* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC ENSG00000169692 40 5 11.11 31 0 0.00 AGPAT3 56894 genome.wustl.edu 37 21 45374797 45374797 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 45374797 45374797 C G SNP AGPAT3 ENST00000497909 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AGPAT3 HGNC ENSG00000160216 37 28 43.08 53 0 0.00 AGPAT3 56894 genome.wustl.edu 37 21 45374858 45374858 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 45374858 45374858 G C SNP AGPAT3 ENST00000497909 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AGPAT3 HGNC ENSG00000160216 25 22 45.83 70 0 0.00 AGPAT4 56895 genome.wustl.edu 37 6 161587300 161587300 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161587300 161587300 C T SNP AGPAT4 ENST00000320285 human ensembl 70_37 -1 known missense c.328 p.E110K 0.733 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 25 15 37.50 40 0 0.00 AGPAT5 55326 genome.wustl.edu 37 8 6614722 6614722 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 6614722 6614722 G A SNP AGPAT5 ENST00000285518 human ensembl 70_37 +1 known missense c.908 p.R303K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 4 17 80.95 50 0 0.00 AGPAT6 137964 genome.wustl.edu 37 8 41469775 41469775 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 41469775 41469775 G A SNP AGPAT6 ENST00000396987 human ensembl 70_37 +1 known missense c.778 p.D260N 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 58 17 22.67 77 0 0.00 AGPAT9 84803 genome.wustl.edu 37 4 84465744 84465744 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 84465744 84465744 C G SNP AGPAT9 ENST00000264409 human ensembl 70_37 +1 known missense c.197 p.S66C 0.813 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 47 16 25.40 52 0 0.00 AGPAT9 84803 genome.wustl.edu 37 4 84519211 84519211 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 84519211 84519211 C T SNP AGPAT9 ENST00000264409 human ensembl 70_37 +1 known missense c.1004 p.P335L 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 32 14 30.43 73 0 0.00 AGPAT9 84803 genome.wustl.edu 37 4 84525961 84525961 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 84525961 84525961 G C SNP AGPAT9 ENST00000509044 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors AGPAT9 HGNC ENSG00000138678 22 7 24.14 16 0 0.00 HYKK 123688 genome.wustl.edu 37 15 78810942 78810942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 78810942 78810942 C T SNP AGPHD1 ENST00000360519 human ensembl 70_37 +1 known missense c.490 p.R164C 0.001 NULL pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors AGPHD1 HGNC ENSG00000188266 28 15 34.88 44 0 0.00 HYKK 123688 genome.wustl.edu 37 15 78825706 78825706 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 78825706 78825706 C T SNP AGPHD1 ENST00000388988 human ensembl 70_37 +1 known silent c.816 p.Y272 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors AGPHD1 HGNC ENSG00000188266 63 38 37.62 63 0 0.00 AGPS 8540 genome.wustl.edu 37 2 178301609 178301609 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 178301609 178301609 C T SNP AGPS ENST00000264167 human ensembl 70_37 +1 known missense c.559 p.H187Y 1.000 superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 48 15 23.81 51 0 0.00 AGPS 8540 genome.wustl.edu 37 2 178362425 178362425 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 178362425 178362425 C G SNP AGPS ENST00000264167 human ensembl 70_37 +1 known missense c.1294 p.L432V 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 48 20 29.41 97 0 0.00 AGR2 10551 genome.wustl.edu 37 7 16840805 16840805 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 16840805 16840805 G C SNP AGR2 ENST00000419572 human ensembl 70_37 -1 known missense c.286 p.H96D 0.999 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR2 HGNC ENSG00000106541 22 19 46.34 18 0 0.00 AGRN 375790 genome.wustl.edu 37 1 979321 979321 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 979321 979321 C T SNP AGRN ENST00000379370 human ensembl 70_37 +1 known silent c.1917 p.Y639 0.300 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_Prot_inh_Kazal pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 14 6 30.00 16 0 0.00 AGRN 375790 genome.wustl.edu 37 1 980904 980907 + Splice_Site DEL GTGA GTGA - TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 980904 980907 GTGA - DEL AGRN ENST00000379370 human ensembl 70_37 +1 known splice_site_del c.2536+1_2536+1 e14+1 1.000:1.000:1.000:1.000 - - - no_errors AGRN HGNC ENSG00000188157 21 11 34.38 49 0 0.00 AGRN 375790 genome.wustl.edu 37 1 981451 981451 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 981451 981451 G A SNP AGRN ENST00000379370 human ensembl 70_37 +1 known missense c.2788 p.E930K 0.996 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_EG-like_dom,smart_Prot_inh_Kazal pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 27 26 49.06 57 0 0.00 AGRN 375790 genome.wustl.edu 37 1 983046 983046 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 983046 983046 G C SNP AGRN ENST00000379370 human ensembl 70_37 +1 known missense c.3610 p.V1204L 1.000 pfam_SEA,smart_SEA,pfscan_SEA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 46 8 14.81 37 0 0.00 AGRN 375790 genome.wustl.edu 37 1 984694 984694 + Silent SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 984694 984694 G T SNP AGRN ENST00000379370 human ensembl 70_37 +1 known silent c.4377 p.L1459 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 49 12 19.67 46 0 0.00 AGT 183 genome.wustl.edu 37 1 230846455 230846455 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 230846455 230846455 C T SNP AGT ENST00000366667 human ensembl 70_37 -1 known missense c.142 p.E48K 0.017 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn - no_errors AGT HGNC ENSG00000135744 43 15 25.86 41 0 0.00 AGT 183 genome.wustl.edu 37 1 230846470 230846470 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 230846470 230846470 G A SNP AGT ENST00000366667 human ensembl 70_37 -1 known missense c.127 p.L43F 0.998 prints_Angiotensngn pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn - no_errors AGT HGNC ENSG00000135744 36 15 29.41 58 0 0.00 AGTPBP1 23287 genome.wustl.edu 37 9 88162079 88162079 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 88162079 88162079 G A SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.3662 p.S1221F 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 73 15 17.05 44 0 0.00 AGTPBP1 23287 genome.wustl.edu 37 9 88190252 88190252 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 88190252 88190252 C G SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.3517 p.E1173Q 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 41 10 19.61 50 0 0.00 AGTPBP1 23287 genome.wustl.edu 37 9 88203305 88203305 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 88203305 88203305 G C SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known silent c.2847 p.L949 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 62 28 31.11 88 0 0.00 AGTPBP1 23287 genome.wustl.edu 37 9 88272466 88272466 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 88272466 88272466 T C SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.949 p.N317D 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 22 11 33.33 45 0 0.00 AGTPBP1 23287 genome.wustl.edu 37 9 88307683 88307683 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 88307683 88307683 C T SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known silent c.234 p.E78 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 40 18 31.03 65 0 0.00 AGTR1 185 genome.wustl.edu 37 3 148458860 148458860 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 148458860 148458860 G T SNP AGTR1 ENST00000349243 human ensembl 70_37 +1 known missense c.38 p.R13I 1.000 prints_ATII_AT1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor - no_errors AGTR1 HGNC ENSG00000144891 24 10 29.41 50 0 0.00 AGXT 189 genome.wustl.edu 37 2 241808657 241808657 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 241808657 241808657 C G SNP AGXT ENST00000307503 human ensembl 70_37 +1 known missense c.236 p.S79C 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT HGNC ENSG00000172482 24 13 35.14 50 0 0.00 ETNPPL 64850 genome.wustl.edu 37 4 109667588 109667588 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 109667588 109667588 A G SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.1270 p.F424L 0.040 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC ENSG00000164089 34 15 30.61 59 0 0.00 ETNPPL 64850 genome.wustl.edu 37 4 109669261 109669261 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 109669261 109669261 C G SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.982 p.E328Q 0.998 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC ENSG00000164089 41 7 14.29 42 0 0.00 ETNPPL 64850 genome.wustl.edu 37 4 109670544 109670544 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 109670544 109670544 G C SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.777 p.F259L 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC ENSG00000164089 15 15 50.00 36 0 0.00 PHYKPL 85007 genome.wustl.edu 37 5 177641849 177641849 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177641849 177641849 C G SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known missense c.1120 p.D374H 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 30 18 37.50 32 0 0.00 PHYKPL 85007 genome.wustl.edu 37 5 177641849 177641849 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177641849 177641849 C G SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known missense c.1120 p.D374H 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 96 30 23.81 94 0 0.00 PHYKPL 85007 genome.wustl.edu 37 5 177658509 177658509 + Silent SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 177658509 177658509 G T SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known silent c.75 p.L25 1.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 24 34 58.62 53 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247002960 247002960 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 247002960 247002960 C T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AHCTF1 HGNC ENSG00000153207 39 11 22.00 60 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247003181 247003181 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 247003181 247003181 C T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AHCTF1 HGNC ENSG00000153207 41 12 22.64 27 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247013291 247013291 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 247013291 247013291 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.6044 p.R2015T 0.007 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 36 9 20.00 72 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247016504 247016504 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 247016504 247016504 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known silent c.4479 p.L1493 0.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 41 12 22.64 81 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247024261 247024261 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 247024261 247024261 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.4099 p.D1367H 0.379 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 170 23 11.92 130 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247024352 247024352 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 247024352 247024352 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known silent c.4008 p.P1336 0.791 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 136 53 28.04 131 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247028619 247028619 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 247028619 247028619 G T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AHCTF1 HGNC ENSG00000153207 69 15 17.86 17 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247031024 247031024 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 247031024 247031024 A G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.3205 p.S1069P 0.997 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 39 18 31.58 54 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247061639 247061639 + Splice_Site SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 247061639 247061639 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known splice_site c.1522-1 e12-1 1.000 - - - no_errors AHCTF1 HGNC ENSG00000153207 23 6 20.69 40 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247063409 247063409 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 247063409 247063409 G C SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1417 p.P473A 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 36 16 30.77 31 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247063499 247063499 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 247063499 247063499 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1327 p.E443Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 272 46 14.42 238 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247065857 247065857 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 247065857 247065857 G A SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1114 p.H372Y 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 21 3 12.50 42 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247067298 247067298 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 247067298 247067298 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.946 p.A316T 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 36 4 10.00 43 0 0.00 AHCTF1 25909 genome.wustl.edu 37 1 247079513 247079514 + Frame_Shift_Ins INS - - A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 247079513 247079514 - A INS AHCTF1 ENST00000326225 human ensembl 70_37 -1 known frame_shift_ins c.333_332 p.E111fs 0.998:1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 11 2 15.38 12 0 0.00 AHCY 191 genome.wustl.edu 37 20 32880201 32880201 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 32880201 32880201 G A SNP AHCY ENST00000217426 human ensembl 70_37 -1 known silent c.408 p.T136 0.998 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC ENSG00000101444 50 19 27.54 29 0 0.00 AHCYL1 10768 genome.wustl.edu 37 1 110559006 110559006 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 110559006 110559006 G A SNP AHCYL1 ENST00000369799 human ensembl 70_37 +1 known missense c.823 p.A275T 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 17 3 15.00 46 0 0.00 AHCYL1 10768 genome.wustl.edu 37 1 110561084 110561084 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 110561084 110561084 G A SNP AHCYL1 ENST00000369799 human ensembl 70_37 +1 known missense c.1213 p.D405N 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 30 7 18.92 77 0 0.00 AHCYL2 23382 genome.wustl.edu 37 7 129029479 129029479 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 129029479 129029479 G A SNP AHCYL2 ENST00000325006 human ensembl 70_37 +1 known missense c.624 p.M208I 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 24 5 17.24 25 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27860955 27860955 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 27860955 27860955 C T SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AHDC1 HGNC ENSG00000126705 24 10 29.41 41 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27861137 27861137 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27861137 27861137 C T SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AHDC1 HGNC ENSG00000126705 10 4 28.57 14 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27861165 27861165 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 27861165 27861165 C G SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 0.755 - - - no_errors AHDC1 HGNC ENSG00000126705 30 8 21.05 19 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27861171 27861172 + RNA INS - - T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 27861171 27861172 - T INS AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 0.974:0.982 - - - no_errors AHDC1 HGNC ENSG00000126705 39 5 11.36 18 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27874770 27874770 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 27874770 27874770 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known missense c.3857 p.R1286Q 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 30 18 37.50 32 0 0.00 AHDC1 27245 genome.wustl.edu 37 1 27875174 27875174 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 27875174 27875174 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known silent c.3453 p.Q1151 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 129 23 15.13 222 1 0.45 AHDC1 27245 genome.wustl.edu 37 1 27875174 27875174 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 27875174 27875174 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known silent c.3453 p.Q1151 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 38 7 15.56 31 0 0.00 AHI1 54806 genome.wustl.edu 37 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 135679284 135679284 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.3151 p.D1051H 0.053 pfscan_SH3_domain pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 168 87 33.98 257 0 0.00 AHI1 54806 genome.wustl.edu 37 6 135751040 135751040 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 135751040 135751040 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.2472 p.L824F 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 38 34 47.22 118 0 0.00 AHI1 54806 genome.wustl.edu 37 6 135769614 135769614 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135769614 135769614 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known splice_site c.1441-1 e9-1 1.000 - - - no_errors AHI1 HGNC ENSG00000135541 27 11 28.95 34 0 0.00 AHI1 54806 genome.wustl.edu 37 6 135787166 135787166 + Missense_Mutation SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 135787166 135787166 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.535 p.E179Q 0.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 18 32 64.00 95 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62284969 62284969 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 62284969 62284969 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.16920 p.L5640 0.181 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 40 13 24.53 55 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62286537 62286537 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 62286537 62286537 G A SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known nonsense c.15352 p.Q5118* 0.947 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 24 6 20.00 11 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62288062 62288062 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 62288062 62288062 G A SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.13827 p.G4609 0.008 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 84 80 48.78 159 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62289056 62289056 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 62289056 62289056 G C SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12833 p.S4278C 0.108 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 70 50 41.67 124 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62289474 62289474 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 62289474 62289474 T G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12415 p.K4139Q 0.920 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 74 41 35.65 108 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62289755 62289755 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62289755 62289755 T C SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12134 p.D4045G 0.649 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 47 34 41.98 112 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62292606 62292606 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62292606 62292606 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.9283 p.D3095N 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 101 41 28.87 180 1 0.55 AHNAK 79026 genome.wustl.edu 37 11 62296617 62296617 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62296617 62296617 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.5272 p.E1758Q 0.981 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 52 6 10.34 65 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62297007 62297007 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 62297007 62297007 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.4882 p.D1628H 0.949 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 99 43 30.28 130 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62300022 62300022 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62300022 62300022 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.1867 p.E623Q 0.110 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 48 30 38.46 79 0 0.00 AHNAK 79026 genome.wustl.edu 37 11 62300590 62300590 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 62300590 62300590 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.1299 p.K433 0.184 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 9 6 40.00 16 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105404558 105404558 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 105404558 105404558 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.17230 p.E5744Q 0.968 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 28 10 26.32 48 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105405820 105405820 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 105405820 105405820 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.15968 p.G5323A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 30 12 28.57 33 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105405974 105405974 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 105405974 105405974 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.15814 p.D5272N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 23 14 37.84 32 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105406022 105406022 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 105406022 105406022 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.15766 p.E5256K 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 198 76 27.74 280 1 0.35 AHNAK2 113146 genome.wustl.edu 37 14 105408592 105408592 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 14 105408592 105408592 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.13196 p.P4399L 0.756 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 66 17 20.48 73 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105408926 105408926 + Missense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 105408926 105408926 C A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.12862 p.D4288Y 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 146 64 30.48 204 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105409512 105409512 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105409512 105409512 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.12276 p.V4092 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 80 43 34.96 164 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105410048 105410048 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 105410048 105410048 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.11740 p.D3914H 0.639 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 286 68 19.21 401 1 0.25 AHNAK2 113146 genome.wustl.edu 37 14 105411033 105411033 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 105411033 105411033 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.10755 p.L3585 0.008 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 29 41 58.57 78 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105412935 105412935 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105412935 105412935 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.8853 p.P2951 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 38 26 40.62 77 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105413073 105413073 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 105413073 105413073 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8715 p.K2905N 0.919 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 72 49 40.50 77 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105413217 105413217 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 105413217 105413217 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8571 p.K2857N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 69 12 14.81 76 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105413636 105413636 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105413636 105413636 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8152 p.E2718Q 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 65 50 43.10 117 1 0.85 AHNAK2 113146 genome.wustl.edu 37 14 105417015 105417015 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 105417015 105417015 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.4773 p.L1591 0.007 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 421 67 13.73 436 1 0.23 AHNAK2 113146 genome.wustl.edu 37 14 105417627 105417627 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 14 105417627 105417627 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.4161 p.L1387 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 110 33 23.08 142 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105418694 105418694 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 105418694 105418694 G C SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.3094 p.L1032V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 104 28 21.21 109 1 0.91 AHNAK2 113146 genome.wustl.edu 37 14 105418845 105418845 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 105418845 105418845 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.2943 p.E981 0.065 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 234 49 17.25 444 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105420220 105420220 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 105420220 105420220 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.1568 p.A523V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 38 26 40.00 72 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105420437 105420437 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 105420437 105420437 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.1351 p.E451K 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 28 4 12.50 32 0 0.00 AHNAK2 113146 genome.wustl.edu 37 14 105421849 105421849 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 105421849 105421849 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.437 p.S146L 0.991 superfamily_PDZ,smart_PDZ,pfscan_PDZ superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 18 11 37.93 23 0 0.00 AHR 196 genome.wustl.edu 37 7 17379822 17379822 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 17379822 17379822 A G SNP AHR ENST00000242057 human ensembl 70_37 +1 known silent c.2373 p.V791 0.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors AHR HGNC ENSG00000106546 7 9 56.25 18 0 0.00 AHRR 57491 genome.wustl.edu 37 5 428077 428077 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 428077 428077 G C SNP AHRR ENST00000316418 human ensembl 70_37 +1 known silent c.930 p.L310 0.721 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC ENSG00000063438 9 14 60.87 28 0 0.00 AHRR 57491 genome.wustl.edu 37 5 434222 434222 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 434222 434222 C T SNP AHRR ENST00000316418 human ensembl 70_37 +1 known missense c.1433 p.S478F 0.002 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC ENSG00000063438 57 10 14.93 53 0 0.00 AHRR 57491 genome.wustl.edu 37 5 434786 434786 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 434786 434786 G A SNP AHRR ENST00000316418 human ensembl 70_37 +1 known missense c.1997 p.C666Y 0.000 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC ENSG00000063438 55 18 24.66 83 0 0.00 AHSA1 10598 genome.wustl.edu 37 14 77929015 77929015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 77929015 77929015 G A SNP AHSA1 ENST00000216479 human ensembl 70_37 +1 known missense c.385 p.D129N 1.000 pfam_AHSA1_N,superfamily_AHSA1_N pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 33 25 43.10 59 0 0.00 AHSA2 130872 genome.wustl.edu 37 2 61413945 61413945 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 61413945 61413945 A G SNP AHSA2 ENST00000489653 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors AHSA2 HGNC ENSG00000173209 18 5 21.74 17 0 0.00 AIDA 64853 genome.wustl.edu 37 1 222846664 222846664 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222846664 222846664 A T SNP AIDA ENST00000340020 human ensembl 70_37 -1 known missense c.697 p.L233I 1.000 pfam_AIDA pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 16 10 38.46 22 0 0.00 AIDA 64853 genome.wustl.edu 37 1 222867561 222867561 + Silent SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 222867561 222867561 T A SNP AIDA ENST00000340020 human ensembl 70_37 -1 known silent c.225 p.A75 1.000 pfam_AIDA,superfamily_AIDA_N pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 32 30 48.39 59 0 0.00 AIDA 64853 genome.wustl.edu 37 1 222885352 222885352 + RNA SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 222885352 222885352 G C SNP AIDA ENST00000474863 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AIDA HGNC ENSG00000186063 11 18 62.07 15 0 0.00 AIF1 199 genome.wustl.edu 37 6 31584177 31584177 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 31584177 31584177 G C SNP AIF1 ENST00000376059 human ensembl 70_37 +1 known missense c.253 p.E85Q 1.000 NULL pfscan_EF_HAND_2 - no_errors AIF1 HGNC ENSG00000204472 14 14 50.00 13 0 0.00 AIF1L 83543 genome.wustl.edu 37 9 133981650 133981650 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 133981650 133981650 C T SNP AIF1L ENST00000372309 human ensembl 70_37 +1 known nonsense c.169 p.Q57* 0.000 NULL pfscan_EF_HAND_2 - no_errors AIF1L HGNC ENSG00000126878 79 11 12.22 48 0 0.00 AIFM1 9131 genome.wustl.edu 37 X 129281546 129281546 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 129281546 129281546 G A SNP AIFM1 ENST00000287295 human ensembl 70_37 -1 known missense c.527 p.S176L 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 31 12 27.91 36 0 0.00 AIFM1 9131 genome.wustl.edu 37 X 129299534 129299534 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 129299534 129299534 G A SNP AIFM1 ENST00000287295 human ensembl 70_37 -1 known missense c.97 p.R33W 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 23 24 51.06 18 0 0.00 AIFM3 150209 genome.wustl.edu 37 22 21327625 21327625 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21327625 21327625 G T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.972 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 51 39 42.86 90 0 0.00 AIFM3 150209 genome.wustl.edu 37 22 21327739 21327739 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21327739 21327739 C T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known missense c.175 p.H59Y 0.225 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 19 6 24.00 23 0 0.00 AIFM3 150209 genome.wustl.edu 37 22 21329099 21329099 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 21329099 21329099 C T SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known silent c.714 p.L238 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 8 5 38.46 20 0 0.00 AIFM3 150209 genome.wustl.edu 37 22 21333933 21333933 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 21333933 21333933 G A SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known missense c.1594 p.D532N 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 269 92 25.48 352 0 0.00 AIM1 202 genome.wustl.edu 37 6 106960255 106960255 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 106960255 106960255 G T SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known silent c.39 p.R13 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 10 4 28.57 35 0 0.00 AIM1 202 genome.wustl.edu 37 6 106967421 106967421 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 106967421 106967421 C G SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.1114 p.Q372E 0.073 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 26 7 21.21 42 0 0.00 AIM1 202 genome.wustl.edu 37 6 106967523 106967523 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 106967523 106967523 G C SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 95 17 15.18 114 0 0.00 AIM1 202 genome.wustl.edu 37 6 106968381 106968381 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 106968381 106968381 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.2074 p.D692N 0.999 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 23 35 60.34 43 0 0.00 AIM1 202 genome.wustl.edu 37 6 106968393 106968393 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 106968393 106968393 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.2086 p.D696N 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 25 29 53.70 41 0 0.00 AIM1 202 genome.wustl.edu 37 6 106992727 106992727 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 106992727 106992727 T C SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.4007 p.I1336T 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 54 6 10.00 62 0 0.00 AIM1 202 genome.wustl.edu 37 6 107008788 107008788 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 107008788 107008788 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.4742 p.R1581Q 0.959 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 31 22 41.51 70 0 0.00 AIM1L 55057 genome.wustl.edu 37 1 26663710 26663710 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 26663710 26663710 G A SNP AIM1L ENST00000522923 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AIM1L HGNC ENSG00000176092 29 22 43.14 46 0 0.00 AIM2 9447 genome.wustl.edu 37 1 159035774 159035774 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 159035774 159035774 C T SNP AIM2 ENST00000368130 human ensembl 70_37 -1 known missense c.742 p.E248K 0.009 pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold-like,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 151 28 15.64 190 0 0.00 AIMP2 7965 genome.wustl.edu 37 7 6054795 6054795 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 6054795 6054795 C G SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known missense c.154 p.L52V 0.976 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 38 20 34.48 60 0 0.00 AIMP2 7965 genome.wustl.edu 37 7 6054882 6054882 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 6054882 6054882 C G SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known missense c.241 p.Q81E 1.000 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 81 28 25.69 137 0 0.00 AIMP2 7965 genome.wustl.edu 37 7 6057525 6057525 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 6057525 6057525 G T SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known silent c.423 p.L141 0.994 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 28 4 12.50 25 0 0.00 AIP 9049 genome.wustl.edu 37 11 67250681 67250681 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 67250681 67250681 A C SNP AIP ENST00000279146 human ensembl 70_37 +1 known missense c.52 p.I18L 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 43 21 32.81 73 0 0.00 AIP 9049 genome.wustl.edu 37 11 67256905 67256905 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67256905 67256905 C G SNP AIP ENST00000279146 human ensembl 70_37 +1 known missense c.447 p.I149M 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 36 14 28.00 31 0 0.00 AIRE 326 genome.wustl.edu 37 21 45709596 45709596 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 45709596 45709596 G A SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.709 p.E237K 0.448 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom,prints_AIRE pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 40 24 37.50 58 0 0.00 AIRE 326 genome.wustl.edu 37 21 45711044 45711044 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 45711044 45711044 C T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.946 p.R316W 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 28 15 34.88 35 0 0.00 AIRE 326 genome.wustl.edu 37 21 45711046 45711046 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 45711046 45711046 G T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known silent c.948 p.R316 0.779 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 25 3 10.71 44 0 0.00 AIRE 326 genome.wustl.edu 37 21 45714338 45714338 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 45714338 45714338 G T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.1455 p.E485D 0.034 NULL pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 27 4 12.90 25 0 0.00 AJAP1 55966 genome.wustl.edu 37 1 4832482 4832482 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 4832482 4832482 C G SNP AJAP1 ENST00000378190 human ensembl 70_37 +1 known missense c.1060 p.L354V 1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 37 7 15.91 42 0 0.00 AJAP1 55966 genome.wustl.edu 37 1 4834486 4834486 + Splice_Site SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 4834486 4834486 G A SNP AJAP1 ENST00000378190 human ensembl 70_37 +1 known splice_site c.1164-1 e5-1 1.000 - - - no_errors AJAP1 HGNC ENSG00000196581 44 22 33.33 92 0 0.00 AJUBA 84962 genome.wustl.edu 37 14 23445862 23445862 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23445862 23445862 C G SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known missense c.1168 p.D390H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 28 19 40.43 32 0 0.00 AJUBA 84962 genome.wustl.edu 37 14 23445919 23445919 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 23445919 23445919 G A SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known nonsense c.1111 p.R371* 0.379 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 32 10 23.81 30 0 0.00 AJUBA 84962 genome.wustl.edu 37 14 23451250 23451250 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23451250 23451250 G A SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known nonsense c.226 p.Q76* 0.141 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 27 32 54.24 41 0 0.00 AK2 204 genome.wustl.edu 37 1 33476353 33476353 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 33476353 33476353 C T SNP AK2 ENST00000491241 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors AK2 HGNC ENSG00000004455 38 6 13.64 52 0 0.00 AK2 204 genome.wustl.edu 37 1 33490087 33490087 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 33490087 33490087 C T SNP AK2 ENST00000354858 human ensembl 70_37 -1 known missense c.175 p.E59K 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK2 HGNC ENSG00000004455 66 18 21.43 44 0 0.00 AK2 204 genome.wustl.edu 37 1 33490112 33490112 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 33490112 33490112 C G SNP AK2 ENST00000354858 human ensembl 70_37 -1 known silent c.150 p.L50 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK2 HGNC ENSG00000004455 54 20 27.03 41 0 0.00 AK3 50808 genome.wustl.edu 37 9 4741035 4741035 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 4741035 4741035 G C SNP AK3 ENST00000381809 human ensembl 70_37 -1 known missense c.53 p.S18W 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 51 19 27.14 58 0 0.00 AK5 26289 genome.wustl.edu 37 1 77763549 77763549 + Silent SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 77763549 77763549 T C SNP AK5 ENST00000354567 human ensembl 70_37 +1 known silent c.616 p.L206 0.999 pfam_Adenylate_kin pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 27 14 33.33 34 0 0.00 AK5 26289 genome.wustl.edu 37 1 77952004 77952004 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 77952004 77952004 G T SNP AK5 ENST00000354567 human ensembl 70_37 +1 known missense c.1114 p.D372Y 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 80 10 11.11 148 0 0.00 AK5 26289 genome.wustl.edu 37 1 78024354 78024354 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 78024354 78024354 G A SNP AK5 ENST00000354567 human ensembl 70_37 +1 known silent c.1688 p.*563 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 28 16 36.36 33 0 0.00 AK7 122481 genome.wustl.edu 37 14 96858567 96858567 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 96858567 96858567 G T SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.76 p.D26Y 1.000 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 26 6 18.75 32 0 0.00 AK7 122481 genome.wustl.edu 37 14 96864457 96864457 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 96864457 96864457 G A SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.151 p.E51K 0.963 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 31 12 27.91 52 0 0.00 AK7 122481 genome.wustl.edu 37 14 96864562 96864562 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 96864562 96864562 G C SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.256 p.D86H 0.001 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 24 18 42.86 32 0 0.00 AK7 122481 genome.wustl.edu 37 14 96944801 96944801 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96944801 96944801 G C SNP AK7 ENST00000267584 human ensembl 70_37 +1 known splice_site c.1556-1 e15-1 1.000 - - - no_errors AK7 HGNC ENSG00000140057 32 14 30.43 67 0 0.00 AK7 122481 genome.wustl.edu 37 14 96944861 96944861 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 96944861 96944861 C A SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.1615 p.P539T 0.999 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 43 7 14.00 66 0 0.00 AK7 122481 genome.wustl.edu 37 14 96944935 96944935 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96944935 96944935 C T SNP AK7 ENST00000267584 human ensembl 70_37 +1 known silent c.1689 p.I563 0.004 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 39 21 35.00 50 0 0.00 AK8 158067 genome.wustl.edu 37 9 135601303 135601303 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 135601303 135601303 G A SNP AK8 ENST00000298545 human ensembl 70_37 -1 known silent c.1212 p.L404 0.999 pfam_Adenylate_kin pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 33 6 15.38 18 0 0.00 AK8 158067 genome.wustl.edu 37 9 135702440 135702440 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135702440 135702440 C G SNP AK8 ENST00000298545 human ensembl 70_37 -1 known missense c.558 p.E186D 1.000 pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 40 53 56.38 49 0 0.00 AK8 158067 genome.wustl.edu 37 9 135703409 135703409 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 135703409 135703409 G C SNP AK8 ENST00000298545 human ensembl 70_37 -1 known missense c.547 p.Q183E 0.003 pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 38 22 36.07 58 0 0.00 AKAP1 8165 genome.wustl.edu 37 17 55183327 55183327 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 55183327 55183327 G C SNP AKAP1 ENST00000337714 human ensembl 70_37 +1 known missense c.502 p.D168H 0.126 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 39 15 27.78 65 0 0.00 AKAP10 11216 genome.wustl.edu 37 17 19835207 19835207 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 19835207 19835207 G T SNP AKAP10 ENST00000225737 human ensembl 70_37 -1 known missense c.1552 p.L518M 0.994 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors AKAP10 HGNC ENSG00000108599 16 14 46.67 37 0 0.00 AKAP10 11216 genome.wustl.edu 37 17 19844226 19844226 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 19844226 19844226 C T SNP AKAP10 ENST00000225737 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors AKAP10 HGNC ENSG00000108599 9 3 25.00 25 0 0.00 AKAP11 11215 genome.wustl.edu 37 13 42876786 42876786 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 42876786 42876786 G A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.3904 p.E1302K 0.995 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 41 13 24.07 27 0 0.00 AKAP11 11215 genome.wustl.edu 37 13 42877015 42877015 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 42877015 42877015 C A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known nonsense c.4133 p.S1378* 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 14 9 39.13 56 0 0.00 AKAP11 11215 genome.wustl.edu 37 13 42877194 42877194 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 42877194 42877194 C G SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.4312 p.Q1438E 0.001 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 11 5 31.25 17 0 0.00 AKAP11 11215 genome.wustl.edu 37 13 42877896 42877896 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 42877896 42877896 G A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.5014 p.A1672T 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 9 2 18.18 16 0 0.00 AKAP11 11215 genome.wustl.edu 37 13 42891750 42891750 + Nonsense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 13 42891750 42891750 C T SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known nonsense c.5491 p.Q1831* 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 17 3 15.00 64 0 0.00 AKAP12 9590 genome.wustl.edu 37 6 151672053 151672053 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 151672053 151672053 G A SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.2527 p.V843I 0.943 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 17 17 50.00 20 0 0.00 AKAP12 9590 genome.wustl.edu 37 6 151673169 151673169 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 151673169 151673169 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.3643 p.P1215S 0.004 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 15 9 37.50 45 0 0.00 AKAP12 9590 genome.wustl.edu 37 6 151673302 151673302 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 151673302 151673302 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.3776 p.S1259L 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 38 10 20.83 81 0 0.00 AKAP12 9590 genome.wustl.edu 37 6 151673794 151673794 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 151673794 151673794 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.4268 p.A1423V 0.027 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 37 5 11.90 52 0 0.00 AKAP12 9590 genome.wustl.edu 37 6 151674287 151674287 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 151674287 151674287 C A SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.4761 p.S1587R 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 20 5 20.00 29 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86064769 86064769 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 86064769 86064769 G T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.144 p.R48 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 79 27 25.47 45 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86076934 86076934 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 86076934 86076934 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 107 23 17.69 180 1 0.55 AKAP13 11214 genome.wustl.edu 37 15 86076934 86076934 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 86076934 86076934 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 42 12 22.22 24 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86087109 86087109 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 86087109 86087109 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.585 p.I195M 0.987 superfamily_Ankyrin_rpt-contain_dom pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 82 20 19.61 59 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86118455 86118455 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 86118455 86118455 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.756 p.I252M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 27 22 44.90 49 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86123232 86123232 + Nonsense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 86123232 86123232 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known nonsense c.1933 p.Q645* 0.030 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 16 6 27.27 23 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86123367 86123367 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 86123367 86123367 T C SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.2068 p.S690P 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 15 8 34.78 10 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86123894 86123894 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 86123894 86123894 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.2595 p.L865 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 53 7 11.67 34 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86128965 86128965 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 86128965 86128965 G C SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.4072 p.D1358H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 44 41 48.24 66 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86189140 86189140 + Silent SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 86189140 86189140 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.4329 p.L1443 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 236 44 15.60 275 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86201775 86201775 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 86201775 86201775 C T SNP AKAP13 ENST00000394518 human ensembl 70_37 +1 known nonsense c.4753 p.R1585* 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 27 4 12.50 71 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86228062 86228062 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 86228062 86228062 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.5259 p.F1753 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 93 60 39.22 198 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86261378 86261378 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 86261378 86261378 G A SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.6001 p.E2001K 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 60 19 24.05 89 0 0.00 AKAP13 11214 genome.wustl.edu 37 15 86286834 86286834 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 86286834 86286834 G A SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.8182 p.E2728K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 36 11 23.40 70 0 0.00 AKAP14 158798 genome.wustl.edu 37 X 119037199 119037199 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 119037199 119037199 C G SNP AKAP14 ENST00000371431 human ensembl 70_37 +1 known missense c.13 p.Q5E 0.000 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 18 7 28.00 40 0 0.00 AKAP17A 8227 genome.wustl.edu 37 X 1712389 1712389 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 1712389 1712389 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.34 p.E12Q 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 51 16 23.88 60 0 0.00 AKAP17A 8227 genome.wustl.edu 37 X 1719891 1719891 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 1719891 1719891 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.1492 p.E498Q 0.001 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 18 5 21.74 16 0 0.00 AKAP17A 8227 genome.wustl.edu 37 X 1719891 1719891 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 1719891 1719891 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.1492 p.E498Q 0.001 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 35 9 20.00 23 0 0.00 AKAP2 11217 genome.wustl.edu 37 9 112811046 112811046 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 112811046 112811046 C T SNP AKAP2 ENST00000374525 human ensembl 70_37 +1 known missense c.67 p.P23S 0.016 NULL pfam_RII_binding_1 - no_errors AKAP2 HGNC ENSG00000241978 14 15 51.72 24 0 0.00 AKAP2 11217 genome.wustl.edu 37 9 112930801 112930801 + RNA SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 9 112930801 112930801 C T SNP AKAP2 ENST00000482335 human ensembl 70_37 +1 known rna NULL NULL 0.922 - - - no_errors AKAP2 HGNC ENSG00000241978 32 9 21.95 30 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4735736 4735736 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 4735736 4735736 G A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known nonsense c.2332 p.Q778* 0.993 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 98 24 19.67 90 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4735970 4735970 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 4735970 4735970 A - DEL AKAP3 ENST00000228850 human ensembl 70_37 -1 known frame_shift_del c.2098 p.S700fs 0.745 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 4 2 33.33 13 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4736184 4736184 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 4736184 4736184 C A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1884 p.L628F 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 42 5 10.64 53 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4736232 4736232 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 4736232 4736232 G T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1836 p.S612R 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 19 4 17.39 29 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4736535 4736535 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 4736535 4736535 C A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1533 p.E511D 0.267 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 14 6 30.00 25 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4737262 4737262 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 4737262 4737262 C T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.806 p.R269Q 0.001 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 62 14 18.42 65 0 0.00 AKAP3 10566 genome.wustl.edu 37 12 4737915 4737915 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 12 4737915 4737915 C T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known silent c.153 p.K51 0.920 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 42 15 26.32 53 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49955455 49955455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 49955455 49955455 G A SNP AKAP4 ENST00000481402 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors AKAP4 HGNC ENSG00000147081 1 11 91.67 13 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49955455 49955455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 49955455 49955455 G A SNP AKAP4 ENST00000481402 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors AKAP4 HGNC ENSG00000147081 6 36 85.71 30 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49957243 49957243 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49957243 49957243 G C SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known silent c.2121 p.L707 0.987 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 20 18 47.37 41 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49957835 49957835 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 49957835 49957835 T A SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1529 p.Q510L 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 31 9 22.50 46 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49957942 49957942 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49957942 49957942 C T SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1422 p.M474I 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 34 7 17.07 96 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49958260 49958260 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49958260 49958260 C G SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1104 p.K368N 0.987 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 17 10 37.04 47 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49958365 49958365 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 49958365 49958365 G A SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known silent c.999 p.L333 0.470 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 57 8 12.31 56 0 0.00 AKAP4 8852 genome.wustl.edu 37 X 49958883 49958883 + Missense_Mutation SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 49958883 49958883 C A SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.481 p.D161Y 0.204 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 49 48 49.48 92 0 0.00 AKAP5 9495 genome.wustl.edu 37 14 64936170 64936170 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 14 64936170 64936170 C T SNP AKAP5 ENST00000320636 human ensembl 70_37 +1 known missense c.1058 p.T353I 0.085 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 21 27 56.25 35 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33014856 33014856 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 33014856 33014856 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.997 p.L333V 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 42 10 19.23 30 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33015502 33015502 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 33015502 33015502 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.1643 p.S548C 0.998 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 62 23 27.06 117 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33290861 33290861 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 33290861 33290861 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.3842 p.S1281C 0.993 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 16 5 23.81 78 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33290861 33290861 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 33290861 33290861 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.3842 p.S1281C 0.993 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 33 11 25.00 37 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33291446 33291446 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 33291446 33291446 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known nonsense c.4427 p.S1476* 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 8 4 33.33 28 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33291487 33291487 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 33291487 33291487 G C SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.4468 p.E1490Q 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 14 17 54.84 16 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33292215 33292215 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 33292215 33292215 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known silent c.5196 p.V1732 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 14 8 36.36 41 0 0.00 AKAP6 9472 genome.wustl.edu 37 14 33292524 33292524 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 33292524 33292524 G C SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.5505 p.E1835D 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 11 6 35.29 20 0 0.00 AKAP7 9465 genome.wustl.edu 37 6 131466535 131466535 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 131466535 131466535 G C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.64 p.D22H 0.983 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 37 15 28.85 63 0 0.00 AKAP7 9465 genome.wustl.edu 37 6 131481239 131481239 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 131481239 131481239 A C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.126 p.E42D 0.993 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 16 15 48.39 51 0 0.00 AKAP7 9465 genome.wustl.edu 37 6 131602687 131602687 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 131602687 131602687 G C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.802 p.E268Q 1.000 pfam_Kinase-A_anchor_RI-RII-bd_dom pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 14 6 30.00 17 0 0.00 AKAP8 10270 genome.wustl.edu 37 19 15465808 15465808 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15465808 15465808 C G SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.1997 p.R666T 0.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 93 27 22.50 140 0 0.00 AKAP8 10270 genome.wustl.edu 37 19 15469820 15469820 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 15469820 15469820 C G SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.1581 p.L527F 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 33 15 31.25 53 0 0.00 AKAP8 10270 genome.wustl.edu 37 19 15484149 15484149 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 15484149 15484149 G A SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.374 p.S125F 1.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 37 14 27.45 75 0 0.00 AKAP8L 26993 genome.wustl.edu 37 19 15510182 15510182 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 15510182 15510182 C T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known missense c.1088 p.R363H 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 87 13 13.00 92 0 0.00 AKAP8L 26993 genome.wustl.edu 37 19 15511673 15511673 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15511673 15511673 C T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 39 18 31.03 37 0 0.00 AKAP8L 26993 genome.wustl.edu 37 19 15512270 15512270 + Silent SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 15512270 15512270 G T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known silent c.507 p.R169 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 35 4 10.26 59 0 0.00 AKAP9 10142 genome.wustl.edu 37 7 91631813 91631813 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 91631813 91631813 A T SNP AKAP9 ENST00000359028 human ensembl 70_37 +1 known missense c.2618 p.Y873F 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 3 2 40.00 8 0 0.00 AKAP9 10142 genome.wustl.edu 37 7 91652178 91652179 + In_Frame_Ins INS - - AAC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 91652178 91652179 - AAC INS AKAP9 ENST00000359028 human ensembl 70_37 +1 known in_frame_ins c.4039_4040 p.1348in_frame_insQ 0.123:0.267 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 40 6 13.04 33 0 0.00 AKAP9 10142 genome.wustl.edu 37 7 91726087 91726087 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 91726087 91726087 G A SNP AKAP9 ENST00000359028 human ensembl 70_37 +1 known missense c.9826 p.E3276K 0.983 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 23 19 45.24 28 0 0.00 AKAP9 10142 genome.wustl.edu 37 7 91726507 91726507 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 91726507 91726507 G A SNP AKAP9 ENST00000359028 human ensembl 70_37 +1 known missense c.10246 p.V3416M 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 20 14 41.18 28 0 0.00 AK9 221264 genome.wustl.edu 37 6 109819063 109819063 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 109819063 109819063 G A SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known nonsense c.5152 p.R1718* 0.000 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 30 5 14.29 43 0 0.00 AK9 221264 genome.wustl.edu 37 6 109835543 109835543 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 109835543 109835543 T C SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.4163 p.E1388G 0.983 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 44 12 21.43 56 0 0.00 AK9 221264 genome.wustl.edu 37 6 109837248 109837248 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 109837248 109837248 T C SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.3877 p.I1293V 0.460 smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 23 12 34.29 59 0 0.00 AK9 221264 genome.wustl.edu 37 6 109837659 109837659 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 109837659 109837659 C G SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.3820 p.D1274H 0.989 smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 44 20 31.25 63 0 0.00 AK9 221264 genome.wustl.edu 37 6 109894651 109894651 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 109894651 109894651 C G SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.2338 p.E780Q 0.061 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 56 15 21.13 31 0 0.00 AK9 221264 genome.wustl.edu 37 6 109931583 109931583 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 109931583 109931583 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known silent c.1827 p.Q609 0.372 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 60 10 14.29 45 0 0.00 AK9 221264 genome.wustl.edu 37 6 109931705 109931705 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 109931705 109931705 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.1705 p.D569N 0.023 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 35 16 31.37 63 0 0.00 AK9 221264 genome.wustl.edu 37 6 109935385 109935385 + Splice_Site SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 109935385 109935385 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known splice_site c.1609+1 e14+1 0.115 - - - no_errors AKD1 HGNC ENSG00000155085 88 10 10.20 92 0 0.00 AK9 221264 genome.wustl.edu 37 6 109940391 109940391 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 109940391 109940391 C A SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known nonsense c.1303 p.E435* 0.558 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 76 17 18.28 98 0 0.00 AKIP1 56672 genome.wustl.edu 37 11 8934001 8934001 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 8934001 8934001 G C SNP AKIP1 ENST00000309377 human ensembl 70_37 +1 known missense c.224 p.R75T 1.000 NULL NULL - no_errors AKIP1 HGNC ENSG00000166452 73 28 27.72 83 0 0.00 AKIP1 56672 genome.wustl.edu 37 11 8934037 8934037 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8934037 8934037 G C SNP AKIP1 ENST00000309377 human ensembl 70_37 +1 known missense c.260 p.R87T 0.997 NULL NULL - no_errors AKIP1 HGNC ENSG00000166452 68 24 25.53 82 0 0.00 AKIRIN2 55122 genome.wustl.edu 37 6 88391343 88391343 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 88391343 88391343 G A SNP AKIRIN2 ENST00000257787 human ensembl 70_37 -1 known missense c.374 p.S125L 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 13 51 77.27 59 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117099458 117099458 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 9 117099458 117099458 T C SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.4196 p.N1399S 0.002 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 24 6 20.00 48 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117103902 117103902 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 117103902 117103902 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known nonsense c.3978 p.W1326* 1.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 33 47 58.75 55 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117104310 117104310 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 117104310 117104310 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.3853 p.G1285S 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 99 16 13.91 122 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117107283 117107283 + RNA SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 117107283 117107283 C G SNP AKNA ENST00000492875 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AKNA HGNC ENSG00000106948 50 44 46.81 36 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117108028 117108028 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 117108028 117108028 G A SNP AKNA ENST00000492875 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKNA HGNC ENSG00000106948 19 9 32.14 15 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117119145 117119145 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 117119145 117119145 G A SNP AKNA ENST00000307564 human ensembl 70_37 -1 known silent c.2844 p.I948 0.993 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 51 40 43.96 83 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117120224 117120224 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117120224 117120224 G A SNP AKNA ENST00000307564 human ensembl 70_37 -1 known nonsense c.2716 p.R906* 0.004 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 20 19 48.72 46 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117121944 117121944 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 9 117121944 117121944 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.2422 p.A808T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 22 13 37.14 23 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117130767 117130767 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117130767 117130767 C G SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.1525 p.E509Q 0.011 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 23 11 32.35 40 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117139085 117139085 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 117139085 117139085 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known silent c.1002 p.Q334 0.092 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 62 9 12.68 64 0 0.00 AKNA 80709 genome.wustl.edu 37 9 117143510 117143510 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 117143510 117143510 C G SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.104 p.R35T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 82 38 31.67 80 0 0.00 AKNAD1 254268 genome.wustl.edu 37 1 109365884 109365884 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109365884 109365884 G A SNP AKNAD1 ENST00000369995 human ensembl 70_37 -1 known missense c.2177 p.S726F 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 14 9 39.13 32 0 0.00 AKNAD1 254268 genome.wustl.edu 37 1 109366000 109366000 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 109366000 109366000 G C SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known missense c.2159 p.S720C 0.053 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 95 40 29.63 134 0 0.00 AKNAD1 254268 genome.wustl.edu 37 1 109391560 109391560 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 109391560 109391560 C A SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known nonsense c.1156 p.E386* 1.000 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 23 9 28.12 59 0 0.00 AKNAD1 254268 genome.wustl.edu 37 1 109394361 109394361 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 109394361 109394361 G C SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known nonsense c.926 p.S309* 0.007 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 306 111 26.56 301 0 0.00 AKR1A1 10327 genome.wustl.edu 37 1 46032303 46032303 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 46032303 46032303 C G SNP AKR1A1 ENST00000351829 human ensembl 70_37 +1 known missense c.147 p.I49M 0.953 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 71 17 19.32 48 0 0.00 AKR1B1 231 genome.wustl.edu 37 7 134133207 134133207 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 134133207 134133207 G C SNP AKR1B1 ENST00000285930 human ensembl 70_37 -1 known missense c.591 p.I197M 0.987 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 24 13 35.14 48 0 0.00 AKR1B15 441282 genome.wustl.edu 37 7 134254236 134254236 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 134254236 134254236 G A SNP AKR1B15 ENST00000423958 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 76 22 22.45 99 0 0.00 AKR1B15 441282 genome.wustl.edu 37 7 134261723 134261723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 134261723 134261723 C T SNP AKR1B15 ENST00000423958 human ensembl 70_37 +1 known silent c.750 p.I250 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 65 27 29.35 82 0 0.00 AKR1C1 1645 genome.wustl.edu 37 10 5008127 5008127 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 5008127 5008127 G C SNP AKR1C1 ENST00000380872 human ensembl 70_37 +1 known missense c.106 p.E36Q 0.368 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 65 15 18.75 68 0 0.00 AKR1C1 1645 genome.wustl.edu 37 10 5014915 5014915 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 5014915 5014915 G C SNP AKR1C1 ENST00000380872 human ensembl 70_37 +1 known missense c.820 p.E274Q 0.331 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 91 31 25.41 100 0 0.00 AKR1C2 1646 genome.wustl.edu 37 10 5032037 5032037 + RNA SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 10 5032037 5032037 C T SNP AKR1C2 ENST00000460124 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKR1C2 HGNC ENSG00000151632 53 9 14.52 23 0 0.00 AKR1C2 1646 genome.wustl.edu 37 10 5040883 5040883 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 5040883 5040883 G C SNP AKR1C2 ENST00000380753 human ensembl 70_37 -1 known missense c.504 p.F168L 0.988 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC ENSG00000151632 143 28 16.28 215 0 0.00 AKR1C2 1646 genome.wustl.edu 37 10 5041580 5041580 + RNA SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 10 5041580 5041580 C T SNP AKR1C2 ENST00000460124 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKR1C2 HGNC ENSG00000151632 24 5 17.24 26 0 0.00 AKR1C4 1109 genome.wustl.edu 37 10 5238643 5238643 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 5238643 5238643 G A SNP AKR1C4 ENST00000469875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1C4 HGNC ENSG00000198610 5 9 64.29 12 0 0.00 AKR1C4 1109 genome.wustl.edu 37 10 5242299 5242299 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 5242299 5242299 C A SNP AKR1C4 ENST00000263126 human ensembl 70_37 +1 known missense c.240 p.F80L 0.995 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 46 55 54.46 126 0 0.00 AKR1C4 1109 genome.wustl.edu 37 10 5248280 5248280 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 5248280 5248280 G A SNP AKR1C4 ENST00000263126 human ensembl 70_37 +1 known missense c.490 p.G164R 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 123 79 39.11 151 0 0.00 AKR1CL1 340811 genome.wustl.edu 37 10 5203836 5203836 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 10 5203836 5203836 C T SNP AKR1CL1 ENST00000334314 human ensembl 70_37 -1 known missense c.361 p.V121I 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 14 12 46.15 36 0 0.00 AKR1CL1 340811 genome.wustl.edu 37 10 5203902 5203902 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 5203902 5203902 G A SNP AKR1CL1 ENST00000334314 human ensembl 70_37 -1 known missense c.295 p.H99Y 0.035 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 12 10 45.45 31 0 0.00 AKR1CL1 340811 genome.wustl.edu 37 10 5204935 5204935 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 5204935 5204935 C T SNP AKR1CL1 ENST00000334314 human ensembl 70_37 -1 known missense c.142 p.G48S 0.079 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 38 47 55.29 71 0 0.00 AKR1CL1 340811 genome.wustl.edu 37 10 5227083 5227083 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 5227083 5227083 C G SNP AKR1CL1 ENST00000472691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKR1CL1 HGNC ENSG00000196326 69 36 34.29 66 0 0.00 AKR1D1 6718 genome.wustl.edu 37 7 137761304 137761304 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 137761304 137761304 G A SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known missense c.40 p.D14N 0.993 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 74 9 10.71 102 0 0.00 AKR1D1 6718 genome.wustl.edu 37 7 137773510 137773510 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 137773510 137773510 G C SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known missense c.257 p.G86A 0.673 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 21 5 19.23 29 0 0.00 AKR1D1 6718 genome.wustl.edu 37 7 137790151 137790151 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 137790151 137790151 C G SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known silent c.555 p.L185 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 55 20 26.32 74 0 0.00 AKR1D1 6718 genome.wustl.edu 37 7 137791973 137791973 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 137791973 137791973 G C SNP AKR1D1 ENST00000468877 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors AKR1D1 HGNC ENSG00000122787 27 9 25.00 42 0 0.00 AKR1D1 6718 genome.wustl.edu 37 7 137801416 137801416 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 137801416 137801416 G A SNP AKR1D1 ENST00000468877 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1D1 HGNC ENSG00000122787 45 19 29.69 68 0 0.00 AKR1E2 83592 genome.wustl.edu 37 10 4877913 4877913 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 4877913 4877913 G T SNP AKR1E2 ENST00000298375 human ensembl 70_37 +1 known missense c.371 p.C124F 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 27 7 20.59 29 0 0.00 AKR7A2 8574 genome.wustl.edu 37 1 19633836 19633836 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 19633836 19633836 C T SNP AKR7A2 ENST00000235835 human ensembl 70_37 -1 known silent c.660 p.L220 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 87 12 12.00 112 0 0.00 AKT1 207 genome.wustl.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 105246551 105246551 C T SNP AKT1 ENST00000349310 human ensembl 70_37 -1 known missense c.49 p.E17K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT1 HGNC ENSG00000142208 43 11 20.37 48 0 0.00 AKT1 207 genome.wustl.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 14 105246551 105246551 C T SNP AKT1 ENST00000349310 human ensembl 70_37 -1 known missense c.49 p.E17K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT1 HGNC ENSG00000142208 16 10 38.46 39 0 0.00 AKT1 207 genome.wustl.edu 37 14 105258937 105258937 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 105258937 105258937 C T SNP AKT1 ENST00000349310 human ensembl 70_37 -1 known missense c.44 p.R15Q 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT1 HGNC ENSG00000142208 24 6 20.00 81 0 0.00 AKT1S1 84335 genome.wustl.edu 37 19 50376308 50376308 + Missense_Mutation SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 50376308 50376308 G T SNP AKT1S1 ENST00000344175 human ensembl 70_37 -1 known missense c.245 p.P82Q 0.982 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 21 6 22.22 32 0 0.00 AKT2 208 genome.wustl.edu 37 19 40741040 40741040 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 40741040 40741040 G C SNP AKT2 ENST00000392038 human ensembl 70_37 -1 known missense c.1278 p.F426L 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC ENSG00000105221 14 9 39.13 45 0 0.00 AKT2 208 genome.wustl.edu 37 19 40771139 40771139 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 40771139 40771139 G A SNP AKT2 ENST00000392038 human ensembl 70_37 -1 known silent c.36 p.L12 0.911 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC ENSG00000105221 25 4 13.79 53 0 0.00 AKT3 10000 genome.wustl.edu 37 1 243708851 243708851 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 243708851 243708851 G C SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.1212 p.F404L 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ENSG00000117020 155 23 12.92 159 0 0.00 AKT3 10000 genome.wustl.edu 37 1 243777040 243777040 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 243777040 243777040 G A SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.629 p.S210F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ENSG00000117020 54 12 18.18 72 0 0.00 AKT3 10000 genome.wustl.edu 37 1 243858901 243858901 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 243858901 243858901 G A SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.164 p.S55L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ENSG00000117020 66 27 29.03 69 0 0.00 AKT3 10000 genome.wustl.edu 37 1 243952039 243952039 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 243952039 243952039 T C SNP AKT3 ENST00000550388 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors AKT3 HGNC ENSG00000117020 65 11 14.47 40 0 0.00 AKTIP 64400 genome.wustl.edu 37 16 53526658 53526658 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53526658 53526658 G C SNP AKTIP ENST00000300245 human ensembl 70_37 -1 known missense c.718 p.P240A 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 10 4 28.57 33 0 0.00 AKTIP 64400 genome.wustl.edu 37 16 53528490 53528490 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53528490 53528490 G A SNP AKTIP ENST00000300245 human ensembl 70_37 -1 known missense c.442 p.H148Y 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 20 19 48.72 28 0 0.00 ALAD 210 genome.wustl.edu 37 9 116151721 116151721 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 116151721 116151721 G C SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.798 p.D266E 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 8 4 33.33 15 0 0.00 ALAD 210 genome.wustl.edu 37 9 116153117 116153117 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 116153117 116153117 C T SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.358 p.D120N 0.998 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 18 7 28.00 22 0 0.00 ALAD 210 genome.wustl.edu 37 9 116153129 116153129 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 116153129 116153129 G T SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.346 p.L116M 0.995 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 19 5 20.83 47 0 0.00 ALAS2 212 genome.wustl.edu 37 X 55041279 55041279 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 X 55041279 55041279 C T SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known silent c.1338 p.L446 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 16 23 58.97 20 0 0.00 ALAS2 212 genome.wustl.edu 37 X 55043940 55043940 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 55043940 55043940 C G SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known missense c.982 p.E328Q 1.000 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 95 24 20.17 113 0 0.00 ALAS2 212 genome.wustl.edu 37 X 55047616 55047616 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 55047616 55047616 G T SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known missense c.507 p.N169K 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 51 43 45.74 56 0 0.00 ALB 213 genome.wustl.edu 37 4 74282030 74282030 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 74282030 74282030 G A SNP ALB ENST00000295897 human ensembl 70_37 +1 known missense c.1249 p.E417K 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin - no_errors ALB HGNC ENSG00000163631 22 7 24.14 42 0 0.00 ALCAM 214 genome.wustl.edu 37 3 105266097 105266097 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 105266097 105266097 G C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1209 p.K403N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ENSG00000170017 82 14 14.58 82 0 0.00 ALCAM 214 genome.wustl.edu 37 3 105290745 105290745 + Missense_Mutation SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 105290745 105290745 A C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1714 p.K572Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ENSG00000170017 20 3 13.04 22 0 0.00 ALCAM 214 genome.wustl.edu 37 3 105290745 105290745 + Missense_Mutation SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 105290745 105290745 A C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1714 p.K572Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ENSG00000170017 31 10 24.39 33 0 0.00 ALDH16A1 126133 genome.wustl.edu 37 19 49964112 49964112 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49964112 49964112 C T SNP ALDH16A1 ENST00000293350 human ensembl 70_37 +1 known missense c.533 p.S178F 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 30 13 30.23 45 0 0.00 ALDH16A1 126133 genome.wustl.edu 37 19 49965835 49965835 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49965835 49965835 C G SNP ALDH16A1 ENST00000293350 human ensembl 70_37 +1 known silent c.921 p.L307 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 70 33 32.04 46 0 0.00 ALDH18A1 5832 genome.wustl.edu 37 10 97373741 97373741 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97373741 97373741 C G SNP ALDH18A1 ENST00000371224 human ensembl 70_37 -1 known missense c.1783 p.D595H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 17 4 19.05 28 0 0.00 ALDH18A1 5832 genome.wustl.edu 37 10 97396862 97396862 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97396862 97396862 G A SNP ALDH18A1 ENST00000371224 human ensembl 70_37 -1 known silent c.546 p.I182 1.000 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 13 12 48.00 16 0 0.00 ALDH1A1 216 genome.wustl.edu 37 9 75516138 75516138 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 75516138 75516138 G C SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known missense c.1492 p.Q498E 0.992 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 49 9 15.52 72 0 0.00 ALDH1A1 216 genome.wustl.edu 37 9 75524535 75524535 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 75524535 75524535 C A SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known silent c.1341 p.L447 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 21 3 12.50 63 0 0.00 ALDH1A1 216 genome.wustl.edu 37 9 75545857 75545857 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 75545857 75545857 C T SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known missense c.250 p.E84K 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 17 8 32.00 31 0 0.00 ALDH1A2 8854 genome.wustl.edu 37 15 58284946 58284946 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 58284946 58284946 G C SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known missense c.755 p.S252C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 29 11 27.50 60 0 0.00 ALDH1A2 8854 genome.wustl.edu 37 15 58287282 58287282 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 58287282 58287282 G T SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known silent c.549 p.I183 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 54 21 28.00 74 0 0.00 ALDH1A2 8854 genome.wustl.edu 37 15 58357776 58357776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 58357776 58357776 G C SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known missense c.73 p.L25V 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 60 14 18.92 69 0 0.00 ALDH1A3 220 genome.wustl.edu 37 15 101438352 101438352 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 101438352 101438352 G A SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known missense c.845 p.G282E 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 29 4 12.12 32 0 0.00 ALDH1A3 220 genome.wustl.edu 37 15 101440802 101440802 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 101440802 101440802 C T SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known silent c.906 p.A302 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 35 19 35.19 75 0 0.00 ALDH1A3 220 genome.wustl.edu 37 15 101447381 101447381 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101447381 101447381 A C SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known missense c.1289 p.K430T 0.305 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 41 7 14.58 54 0 0.00 ALDH1B1 219 genome.wustl.edu 37 9 38395833 38395833 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 38395833 38395833 C G SNP ALDH1B1 ENST00000377698 human ensembl 70_37 +1 known missense c.88 p.L30V 0.003 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 38 13 25.49 31 0 0.00 ALDH1L1 10840 genome.wustl.edu 37 3 125836938 125836938 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 125836938 125836938 G C SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.1892 p.S631C 0.147 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 26 15 36.59 42 0 0.00 ALDH1L1 10840 genome.wustl.edu 37 3 125876203 125876203 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 125876203 125876203 C G SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.999 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 28 15 34.88 39 0 0.00 ALDH1L1 10840 genome.wustl.edu 37 3 125877305 125877305 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 125877305 125877305 G T SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.305 p.S102Y 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 48 6 11.11 55 0 0.00 ALDH1L2 160428 genome.wustl.edu 37 12 105433521 105433521 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 12 105433521 105433521 G C SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.2015 p.S672C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 28 5 15.15 40 0 0.00 ALDH1L2 160428 genome.wustl.edu 37 12 105433558 105433558 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 105433558 105433558 C G SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.1978 p.E660Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 34 16 32.00 52 0 0.00 ALDH1L2 160428 genome.wustl.edu 37 12 105455416 105455416 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 105455416 105455416 C T SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.1036 p.E346K 0.968 superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 53 21 28.00 85 0 0.00 ALDH1L2 160428 genome.wustl.edu 37 12 105456723 105456723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 105456723 105456723 C T SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known silent c.864 p.K288 0.938 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 27 16 37.21 44 0 0.00 ALDH2 217 genome.wustl.edu 37 12 112230491 112230491 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 112230491 112230491 G A SNP ALDH2 ENST00000261733 human ensembl 70_37 +1 known missense c.988 p.D330N 0.939 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 52 27 34.18 54 0 0.00 ALDH3A1 218 genome.wustl.edu 37 17 19642955 19642955 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 19642955 19642955 A G SNP ALDH3A1 ENST00000225740 human ensembl 70_37 -1 known missense c.982 p.S328P 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 29 10 25.64 45 0 0.00 ALDH3A2 224 genome.wustl.edu 37 17 19555037 19555037 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 19555037 19555037 T C SNP ALDH3A2 ENST00000339618 human ensembl 70_37 +1 known missense c.331 p.W111R 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 29 9 23.68 24 0 0.00 ALDH3A2 224 genome.wustl.edu 37 17 19566669 19566669 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 19566669 19566669 G C SNP ALDH3A2 ENST00000339618 human ensembl 70_37 +1 known missense c.964 p.D322H 0.002 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 46 8 14.81 40 0 0.00 ALDH3B1 221 genome.wustl.edu 37 11 67795656 67795656 + RNA SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 67795656 67795656 C G SNP ALDH3B1 ENST00000007633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ALDH3B1 HGNC ENSG00000006534 22 7 24.14 29 0 0.00 ALDH3B2 222 genome.wustl.edu 37 11 67434463 67434463 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67434463 67434463 C G SNP ALDH3B2 ENST00000531881 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ALDH3B2 HGNC ENSG00000132746 26 26 50.00 51 0 0.00 ALDH3B2 222 genome.wustl.edu 37 11 67438577 67438577 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 67438577 67438577 C T SNP ALDH3B2 ENST00000531881 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ALDH3B2 HGNC ENSG00000132746 36 12 25.00 17 0 0.00 ALDH4A1 8659 genome.wustl.edu 37 1 19203721 19203721 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 19203721 19203721 G C SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known missense c.1166 p.S389C 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 17 12 41.38 43 0 0.00 ALDH4A1 8659 genome.wustl.edu 37 1 19204081 19204081 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 19204081 19204081 G A SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known silent c.966 p.F322 0.003 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 25 13 34.21 27 0 0.00 ALDH4A1 8659 genome.wustl.edu 37 1 19208252 19208252 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 19208252 19208252 C A SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known missense c.808 p.G270W 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 42 5 10.64 36 0 0.00 ALDH4A1 8659 genome.wustl.edu 37 1 19216523 19216523 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 19216523 19216523 G A SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known nonsense c.139 p.R47* 1.000 superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 80 11 12.09 62 0 0.00 ALDH5A1 7915 genome.wustl.edu 37 6 24515501 24515501 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 24515501 24515501 C T SNP ALDH5A1 ENST00000348925 human ensembl 70_37 +1 known missense c.872 p.S291F 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 22 10 31.25 83 0 0.00 ALDH6A1 4329 genome.wustl.edu 37 14 74534264 74534264 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 74534264 74534264 C T SNP ALDH6A1 ENST00000553458 human ensembl 70_37 -1 known silent c.861 p.K287 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 88 13 12.75 102 0 0.00 ALDH8A1 64577 genome.wustl.edu 37 6 135239582 135239582 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 135239582 135239582 C T SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known missense c.1435 p.E479K 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 74 18 19.35 76 0 0.00 ALDH8A1 64577 genome.wustl.edu 37 6 135250315 135250315 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 135250315 135250315 C G SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known missense c.888 p.Q296H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 29 12 29.27 48 0 0.00 ALDH8A1 64577 genome.wustl.edu 37 6 135254073 135254073 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 135254073 135254073 G A SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known silent c.690 p.T230 0.053 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 38 8 17.39 34 0 0.00 ALDH9A1 223 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 29 6 17.14 49 0 0.00 ALDH9A1 223 genome.wustl.edu 37 1 165651451 165651451 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 165651451 165651451 G A SNP ALDH9A1 ENST00000354775 human ensembl 70_37 -1 known missense c.485 p.S162L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 32 4 10.53 43 0 0.00 ALDH9A1 223 genome.wustl.edu 37 1 165667639 165667639 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 165667639 165667639 C G SNP ALDH9A1 ENST00000354775 human ensembl 70_37 -1 known missense c.157 p.E53Q 0.994 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 14 5 26.32 16 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30077131 30077131 C G SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ENSG00000149925 39 17 30.36 50 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30077131 30077131 C G SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ENSG00000149925 41 34 45.33 60 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30077131 30077131 C T SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ENSG00000149925 30 17 36.17 38 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30080184 30080184 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30080184 30080184 G T SNP ALDOA ENST00000338110 human ensembl 70_37 +1 known missense c.425 p.G142V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 24 27 52.94 67 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30081343 30081343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30081343 30081343 G C SNP ALDOA ENST00000338110 human ensembl 70_37 +1 known missense c.992 p.R331P 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 28 39 58.21 65 0 0.00 ALDOA 226 genome.wustl.edu 37 16 30081399 30081399 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30081399 30081399 G A SNP ALDOA ENST00000569798 human ensembl 70_37 +1 novel missense c.1048 p.E350K 0.000 NULL pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 42 36 46.15 62 0 0.00 ALDOB 229 genome.wustl.edu 37 9 104184112 104184112 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 104184112 104184112 G A SNP ALDOB ENST00000374855 human ensembl 70_37 -1 known silent c.1074 p.F358 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 21 12 36.36 42 0 0.00 ALDOB 229 genome.wustl.edu 37 9 104187132 104187132 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 104187132 104187132 C T SNP ALDOB ENST00000374855 human ensembl 70_37 -1 known missense c.992 p.R331Q 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 16 7 29.17 50 0 0.00 ALDOC 230 genome.wustl.edu 37 17 26902544 26902544 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 26902544 26902544 G C SNP ALDOC ENST00000226253 human ensembl 70_37 -1 known missense c.7 p.H3D 0.996 NULL pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 20 6 23.08 19 0 0.00 ALG1 56052 genome.wustl.edu 37 16 5125483 5125483 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 5125483 5125483 C A SNP ALG1 ENST00000262374 human ensembl 70_37 +1 known missense c.485 p.S162Y 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 64 21 24.71 42 0 0.00 ALG1 56052 genome.wustl.edu 37 16 5134874 5134874 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 5134874 5134874 G A SNP ALG1 ENST00000262374 human ensembl 70_37 +1 known missense c.1387 p.D463N 0.264 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 60 8 11.76 84 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110928226 110928226 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 110928226 110928226 G A SNP ALG13 ENST00000371979 human ensembl 70_37 +1 known missense c.278 p.G93E 0.981 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 30 9 23.08 34 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110961480 110961480 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110961480 110961480 T C SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known missense c.916 p.Y306H 0.003 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 55 19 25.68 77 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110964869 110964869 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110964869 110964869 G T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known missense c.1053 p.K351N 1.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 51 12 19.05 69 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110970137 110970137 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 110970137 110970137 C T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known silent c.1518 p.L506 0.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 68 21 23.60 58 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110988027 110988027 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 110988027 110988027 C T SNP ALG13 ENST00000394780 human ensembl 70_37 +1 putative missense c.2827 p.P943S 0.003 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 14 10 41.67 18 0 0.00 ALG13 79868 genome.wustl.edu 37 X 110988036 110988036 + Missense_Mutation SNP G G T TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a X 110988036 110988036 G T SNP ALG13 ENST00000394780 human ensembl 70_37 +1 putative missense c.2836 p.A946S 0.003 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 38 9 19.15 30 0 0.00 ALG13 79868 genome.wustl.edu 37 X 111003067 111003067 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 111003067 111003067 G T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known missense c.2705 p.C902F 0.937 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 55 58 51.33 52 0 0.00 ALG1L 200810 genome.wustl.edu 37 3 125649457 125649457 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 125649457 125649457 C T SNP ALG1L ENST00000340333 human ensembl 70_37 -1 known silent c.291 p.V97 1.000 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 153 25 14.04 165 1 0.60 ALG1L13P 0 genome.wustl.edu 37 8 8097770 8097770 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 8097770 8097770 G C SNP ALG1L13P ENST00000522393 human ensembl 70_37 -1 known rna NULL NULL 0.160 - - - no_errors ALG1L13P HGNC ENSG00000253981 78 29 26.85 125 0 0.00 ALG1L13P 0 genome.wustl.edu 37 8 8097804 8097804 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8097804 8097804 G C SNP ALG1L13P ENST00000522393 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ALG1L13P HGNC ENSG00000253981 128 31 19.38 113 1 0.88 ALG1L9P 285407 genome.wustl.edu 37 11 71512892 71512892 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71512892 71512892 C G SNP ALG1L9P ENST00000532875 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ALG1L9P HGNC ENSG00000254978 84 44 34.38 136 0 0.00 ALG6 29929 genome.wustl.edu 37 1 63894697 63894698 + Frame_Shift_Del DEL AA AA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 63894697 63894698 AA - DEL ALG6 ENST00000263440 human ensembl 70_37 +1 known frame_shift_del c.1232_1233 p.K412fs 0.990:0.911 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 16 7 30.43 23 0 0.00 ALG6 29929 genome.wustl.edu 37 1 63894748 63894748 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 63894748 63894748 G A SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known missense c.1283 p.R428K 0.638 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 2 23 92.00 29 0 0.00 ALG6 29929 genome.wustl.edu 37 1 63894749 63894749 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 63894749 63894749 G A SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known silent c.1284 p.R428 0.619 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 2 23 92.00 29 0 0.00 ALG6 29929 genome.wustl.edu 37 1 63902674 63902674 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 63902674 63902674 C G SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known missense c.1513 p.Q505E 1.000 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 84 29 25.44 90 0 0.00 ALG8 79053 genome.wustl.edu 37 11 77812242 77812242 + Splice_Site SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 77812242 77812242 C G SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known splice_site c.1350-1 e13-1 1.000 - - - no_errors ALG8 HGNC ENSG00000159063 12 5 29.41 14 0 0.00 ALG8 79053 genome.wustl.edu 37 11 77823804 77823804 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 77823804 77823804 G C SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known missense c.790 p.Q264E 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 3 4 57.14 18 0 0.00 ALG8 79053 genome.wustl.edu 37 11 77830290 77830290 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 77830290 77830290 G A SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known missense c.484 p.H162Y 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 11 7 38.89 10 0 0.00 ALG8 79053 genome.wustl.edu 37 11 77838404 77838404 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 77838404 77838404 C T SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known silent c.174 p.E58 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 55 31 35.63 59 0 0.00 ALG8 79053 genome.wustl.edu 37 11 77850611 77850611 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 77850611 77850611 C T SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known silent c.24 p.T8 0.000 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 66 45 40.54 103 0 0.00 ALG9 79796 genome.wustl.edu 37 11 111680494 111680494 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111680494 111680494 C G SNP ALG9 ENST00000531154 human ensembl 70_37 -1 known missense c.1093 p.D365H 0.992 NULL pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 19 11 36.67 27 0 0.00 ALK 238 genome.wustl.edu 37 2 29419650 29419650 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 29419650 29419650 C T SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.4150 p.E1384K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 78 13 14.29 86 0 0.00 ALK 238 genome.wustl.edu 37 2 29498346 29498346 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 29498346 29498346 C A SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.1834 p.V612F 0.968 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 18 6 25.00 19 0 0.00 ALK 238 genome.wustl.edu 37 2 29543716 29543716 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 29543716 29543716 C G SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.1447 p.E483Q 0.422 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 19 23 54.76 33 0 0.00 ALKBH1 8846 genome.wustl.edu 37 14 78140375 78140375 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 78140375 78140375 G T SNP ALKBH1 ENST00000216489 human ensembl 70_37 -1 known nonsense c.950 p.S317* 0.328 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 27 9 25.00 50 0 0.00 ALKBH1 8846 genome.wustl.edu 37 14 78142096 78142096 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 78142096 78142096 C T SNP ALKBH1 ENST00000216489 human ensembl 70_37 -1 known missense c.643 p.E215K 0.967 tigrfam_Alkb tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 59 29 32.95 69 0 0.00 ALKBH3 221120 genome.wustl.edu 37 11 43911305 43911305 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 43911305 43911305 G A SNP ALKBH3 ENST00000302708 human ensembl 70_37 +1 known silent c.297 p.V99 0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 40 22 35.48 52 0 0.00 ALKBH3 221120 genome.wustl.edu 37 11 43941472 43941472 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 43941472 43941472 G A SNP ALKBH3 ENST00000302708 human ensembl 70_37 +1 known missense c.773 p.R258Q 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 17 14 45.16 61 0 0.00 ALKBH5 54890 genome.wustl.edu 37 17 18087692 18087692 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 18087692 18087692 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known silent c.135 p.A45 0.872 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 13 3 18.75 12 0 0.00 ALKBH5 54890 genome.wustl.edu 37 17 18098344 18098344 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 18098344 18098344 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known silent c.846 p.L282 0.986 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 15 5 25.00 22 0 0.00 ALKBH5 54890 genome.wustl.edu 37 17 18110256 18110256 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 18110256 18110256 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known missense c.979 p.R327C 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 153 107 41.15 317 0 0.00 ALKBH6 84964 genome.wustl.edu 37 19 36504311 36504311 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 36504311 36504311 C T SNP ALKBH6 ENST00000378875 human ensembl 70_37 -1 known missense c.73 p.E25K 0.490 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH6 HGNC ENSG00000239382 21 4 16.00 16 0 0.00 ALKBH7 84266 genome.wustl.edu 37 19 6372893 6372893 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 6372893 6372893 C G SNP ALKBH7 ENST00000245812 human ensembl 70_37 +1 known missense c.62 p.S21W 0.983 NULL NULL - no_errors ALKBH7 HGNC ENSG00000125652 6 4 40.00 9 0 0.00 ALKBH8 91801 genome.wustl.edu 37 11 107375622 107375622 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 107375622 107375622 G C SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.1766 p.S589C 0.997 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 28 11 28.21 30 0 0.00 ALKBH8 91801 genome.wustl.edu 37 11 107393059 107393059 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 107393059 107393059 C T SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.1262 p.G421E 1.000 pfam_Methyltransf_11,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 5 27 84.38 25 0 0.00 ALKBH8 91801 genome.wustl.edu 37 11 107420538 107420538 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 107420538 107420538 G C SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.721 p.H241D 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 11 8 42.11 67 0 0.00 ALKBH8 91801 genome.wustl.edu 37 11 107431560 107431560 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 107431560 107431560 C T SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known silent c.69 p.R23 1.000 pfam_AlkB_hom8_N pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 33 9 21.43 73 0 0.00 ALLC 55821 genome.wustl.edu 37 2 3727551 3727551 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 3727551 3727551 C G SNP ALLC ENST00000252505 human ensembl 70_37 +1 known missense c.265 p.R89G 0.990 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 46 34 42.50 64 0 0.00 ALLC 55821 genome.wustl.edu 37 2 3749212 3749212 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 3749212 3749212 C T SNP ALLC ENST00000252505 human ensembl 70_37 +1 known missense c.961 p.L321F 0.997 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 53 13 19.70 80 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73613031 73613032 + In_Frame_Ins INS - - GGA TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 73613031 73613032 - GGA INS ALMS1 ENST00000264448 human ensembl 70_37 +1 known in_frame_ins c.35_36 p.16in_frame_insE 0.999:0.989 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 16 4 20.00 19 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73613101 73613101 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 73613101 73613101 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known silent c.105 p.A35 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 57 26 31.33 97 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73659359 73659359 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 73659359 73659359 C T SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.1372 p.L458F 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 31 20 39.22 58 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73675141 73675141 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 73675141 73675141 C T SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.1484 p.S495L 0.397 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 92 16 14.81 71 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73675942 73675942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 73675942 73675942 C T SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.2285 p.S762F 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 30 11 26.83 33 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73676904 73676904 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 73676904 73676904 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.3247 p.D1083N 0.130 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 4 18 81.82 24 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73677738 73677738 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 73677738 73677738 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.4081 p.V1361I 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 28 16 36.36 19 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73679354 73679354 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 73679354 73679354 G C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.5697 p.E1899D 0.002 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 37 7 15.91 31 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73680465 73680465 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 73680465 73680465 A C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.6808 p.N2270H 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 12 5 29.41 20 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73716937 73716937 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73716937 73716937 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known silent c.7848 p.Q2616 0.756 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 4 11 73.33 34 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73828372 73828372 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 73828372 73828372 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.11920 p.E3974K 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 37 14 26.42 69 0 0.00 ALMS1 7840 genome.wustl.edu 37 2 73828516 73828516 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73828516 73828516 G C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.12064 p.E4022Q 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 14 8 36.36 30 0 0.00 ALMS1P 200420 genome.wustl.edu 37 2 73900988 73900988 + RNA SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 2 73900988 73900988 C T SNP ALMS1P ENST00000450720 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ALMS1P HGNC ENSG00000163016 27 7 20.59 50 0 0.00 ALOX12 239 genome.wustl.edu 37 17 6902050 6902050 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6902050 6902050 G A SNP ALOX12 ENST00000251535 human ensembl 70_37 +1 known missense c.436 p.E146K 0.997 superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 10 15 60.00 41 0 0.00 ALOX12 239 genome.wustl.edu 37 17 6909857 6909857 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 6909857 6909857 G T SNP ALOX12 ENST00000251535 human ensembl 70_37 +1 known missense c.1471 p.G491W 0.733 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 24 23 48.94 71 0 0.00 ALOX12B 242 genome.wustl.edu 37 17 7982836 7982836 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 7982836 7982836 C T SNP ALOX12B ENST00000319144 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 18 37 67.27 68 0 0.00 ALOX12P2 245 genome.wustl.edu 37 17 6797684 6797684 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 6797684 6797684 G A SNP ALOX12P2 ENST00000570835 human ensembl 70_37 +1 known rna NULL NULL 0.659 - - - no_errors ALOX12P2 HGNC ENSG00000262943 30 21 41.18 40 0 0.00 ALOX12P2 245 genome.wustl.edu 37 17 6797690 6797690 + RNA SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 6797690 6797690 G T SNP ALOX12P2 ENST00000570835 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ALOX12P2 HGNC ENSG00000262943 35 4 10.26 44 0 0.00 ALOX12P2 245 genome.wustl.edu 37 17 6799927 6799927 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 6799927 6799927 C T SNP ALOX12P2 ENST00000570890 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors ALOX12P2 HGNC ENSG00000262943 60 21 25.61 85 0 0.00 ALOX15 246 genome.wustl.edu 37 17 4541560 4541560 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 4541560 4541560 G A SNP ALOX15 ENST00000545513 human ensembl 70_37 -1 known silent c.825 p.F275 0.662 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 16 12 42.86 21 0 0.00 ALOX15B 247 genome.wustl.edu 37 17 7942715 7942715 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 7942715 7942715 C T SNP ALOX15B ENST00000380183 human ensembl 70_37 +1 known silent c.159 p.F53 0.964 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 25 20 44.44 40 0 0.00 ALOX15B 247 genome.wustl.edu 37 17 7948588 7948588 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 7948588 7948588 C G SNP ALOX15B ENST00000380183 human ensembl 70_37 +1 known missense c.882 p.I294M 0.210 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 144 41 22.04 180 0 0.00 ALOX15B 247 genome.wustl.edu 37 17 7950658 7950658 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 7950658 7950658 G C SNP ALOX15B ENST00000380183 human ensembl 70_37 +1 known missense c.1540 p.E514Q 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 5 7 58.33 25 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45878011 45878011 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 45878011 45878011 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known silent c.231 p.L77 0.093 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ENSG00000012779 57 30 34.48 100 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45920431 45920431 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 45920431 45920431 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known missense c.685 p.E229K 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ENSG00000012779 30 20 40.00 68 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45924114 45924114 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 45924114 45924114 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known missense c.883 p.A295T 0.994 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ENSG00000012779 16 8 33.33 57 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45924146 45924146 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 45924146 45924146 C T SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known silent c.915 p.F305 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ENSG00000012779 57 27 32.14 95 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45938983 45938983 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 45938983 45938983 C G SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known nonsense c.1571 p.S524* 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ENSG00000012779 53 28 34.15 91 0 0.00 ALOX5 240 genome.wustl.edu 37 10 45939495 45939495 + RNA SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 45939495 45939495 G A SNP ALOX5 ENST00000498461 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ALOX5 HGNC ENSG00000012779 44 6 11.76 43 0 0.00 ALOXE3 59344 genome.wustl.edu 37 17 8000035 8000035 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 8000035 8000035 G C SNP ALOXE3 ENST00000318227 human ensembl 70_37 -1 known missense c.2442 p.I814M 0.999 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 76 28 26.67 61 0 0.00 ALOXE3 59344 genome.wustl.edu 37 17 8013799 8013799 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 8013799 8013799 G - DEL ALOXE3 ENST00000318227 human ensembl 70_37 -1 known frame_shift_del c.1401 p.T468fs 0.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 54 7 11.48 37 0 0.00 ALOXE3 59344 genome.wustl.edu 37 17 8021319 8021319 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 8021319 8021319 A G SNP ALOXE3 ENST00000318227 human ensembl 70_37 -1 known missense c.386 p.L129P 0.000 superfamily_Lipase_LipOase pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 40 7 14.89 39 0 0.00 ALPI 248 genome.wustl.edu 37 2 233321089 233321089 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 233321089 233321089 G A SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.98 p.R33H 0.000 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 98 27 21.60 192 0 0.00 ALPI 248 genome.wustl.edu 37 2 233321923 233321923 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 233321923 233321923 C A SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.539 p.A180E 0.971 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 36 20 35.71 90 0 0.00 ALPI 248 genome.wustl.edu 37 2 233322739 233322739 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 233322739 233322739 G C SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.888 p.E296D 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 45 6 11.76 72 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113352413 113352413 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 113352413 113352413 C T SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known silent c.1710 p.F570 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 67 15 18.07 80 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113352584 113352584 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113352584 113352584 G T SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.1881 p.E627D 0.014 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 21 17 44.74 52 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113353125 113353125 + Missense_Mutation SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 113353125 113353125 A C SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.2422 p.N808H 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 11 14 53.85 55 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113353125 113353125 + Missense_Mutation SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 113353125 113353125 A C SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.2422 p.N808H 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 2 10 83.33 23 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113356438 113356438 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 113356438 113356438 C G SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.3169 p.Q1057E 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 19 13 40.62 34 0 0.00 ALPK1 80216 genome.wustl.edu 37 4 113360956 113360956 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 4 113360956 113360956 G A SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.3466 p.E1156K 0.978 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 39 10 20.41 57 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56202143 56202143 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 56202143 56202143 G T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.5276 p.P1759H 0.611 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 30 4 11.76 32 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56203437 56203437 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 56203437 56203437 G C SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3982 p.L1328V 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 14 14 50.00 16 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56203560 56203560 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 56203560 56203560 C T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3859 p.E1287K 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 52 6 10.34 39 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56203851 56203851 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 56203851 56203851 C T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3568 p.G1190R 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 128 57 30.81 210 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56203891 56203891 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 56203891 56203891 G T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known silent c.3528 p.P1176 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 28 8 22.22 36 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56204723 56204723 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 56204723 56204723 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.2696 p.S899L 0.011 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 24 27 52.94 41 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56247685 56247685 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 56247685 56247685 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.323 p.S108L 0.000 pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 60 47 43.93 102 0 0.00 ALPK2 115701 genome.wustl.edu 37 18 56278936 56278936 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 56278936 56278936 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.94 p.R32C 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 54 18 25.00 57 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85370781 85370781 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 85370781 85370781 C T SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known silent c.855 p.L285 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 32 23 41.82 33 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85383341 85383341 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 85383341 85383341 C T SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known silent c.1437 p.N479 0.828 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 21 6 22.22 30 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85383373 85383373 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 85383373 85383373 G A SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.1469 p.G490E 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 84 27 24.11 37 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85383981 85383981 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 85383981 85383981 G C SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.2077 p.E693Q 0.876 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 53 15 22.06 24 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85400594 85400594 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 85400594 85400594 G C SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known silent c.3231 p.L1077 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 22 14 38.89 54 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85401610 85401610 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 85401610 85401610 C G SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.4247 p.S1416C 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 57 15 20.83 38 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85402524 85402524 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 15 85402524 85402524 G A SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.4474 p.G1492S 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 42 22 34.38 60 0 0.00 ALPK3 57538 genome.wustl.edu 37 15 85411341 85411341 + Splice_Site SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 85411341 85411341 G A SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known splice_site c.5379-1 e14-1 0.999 - - - no_errors ALPK3 HGNC ENSG00000136383 11 32 74.42 61 0 0.00 ALPL 249 genome.wustl.edu 37 1 21887187 21887187 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 21887187 21887187 C G SNP ALPL ENST00000374832 human ensembl 70_37 +1 known missense c.130 p.Q44E 1.000 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 32 15 31.91 60 0 0.00 ALPP 250 genome.wustl.edu 37 2 233244519 233244519 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 233244519 233244519 C T SNP ALPP ENST00000392027 human ensembl 70_37 +1 known missense c.530 p.S177L 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 27 5 15.62 39 0 0.00 ALPP 250 genome.wustl.edu 37 2 233245707 233245707 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 233245707 233245707 C G SNP ALPP ENST00000392027 human ensembl 70_37 +1 known missense c.1158 p.F386L 0.999 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 8 7 46.67 14 0 0.00 ALPPL2 251 genome.wustl.edu 37 2 233272600 233272600 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 233272600 233272600 C T SNP ALPPL2 ENST00000295453 human ensembl 70_37 +1 known missense c.521 p.S174L 0.994 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 31 24 43.64 47 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202619275 202619275 + Missense_Mutation SNP A A T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 202619275 202619275 A T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known missense c.1591 p.W531R 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 96 21 17.95 111 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202619287 202619287 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 202619287 202619287 C A SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known nonsense c.1579 p.E527* 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 92 19 16.96 106 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202622381 202622381 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 202622381 202622381 C T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known silent c.1215 p.V405 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 35 13 27.08 58 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202625678 202625678 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 202625678 202625678 C T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.788 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 87 12 12.00 101 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202626361 202626361 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 202626361 202626361 G T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known missense c.356 p.S119Y 0.888 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 17 15 46.88 13 0 0.00 ALS2 57679 genome.wustl.edu 37 2 202630302 202630302 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 202630302 202630302 C A SNP ALS2 ENST00000462747 human ensembl 70_37 -1 known rna NULL NULL 0.049 - - - no_errors ALS2 HGNC ENSG00000003393 14 16 53.33 80 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46713023 46713023 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 46713023 46713023 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2736 p.P912 0.003 pfam_VPS9,pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 23 18 43.90 59 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46713023 46713023 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 46713023 46713023 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2736 p.P912 0.003 pfam_VPS9,pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 43 5 10.42 41 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46716116 46716116 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 46716116 46716116 C A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known missense c.2369 p.G790V 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 15 7 31.82 34 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46716160 46716160 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 46716160 46716160 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2325 p.L775 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 49 11 18.03 57 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46717778 46717778 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 3 46717778 46717778 C G SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known missense c.2143 p.E715Q 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 36 22 37.93 94 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46722599 46722599 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 46722599 46722599 G C SNP ALS2CL ENST00000431015 human ensembl 70_37 -1 known silent c.1548 p.L516 0.000 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 64 14 17.95 80 0 0.00 ALS2CL 259173 genome.wustl.edu 37 3 46722730 46722730 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 46722730 46722730 G A SNP ALS2CL ENST00000431015 human ensembl 70_37 -1 known missense c.1417 p.R473C 0.009 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 28 4 11.76 26 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202352336 202352336 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 202352336 202352336 C T SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known silent c.1871 p.*624 0.945 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 19 41 68.33 24 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202356819 202356819 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202356819 202356819 C A SNP ALS2CR11 ENST00000439140 human ensembl 70_37 -1 novel missense c.4245 p.K1415N 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 9 5 35.71 26 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202358491 202358491 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 202358491 202358491 C T SNP ALS2CR11 ENST00000439140 human ensembl 70_37 -1 novel missense c.2573 p.G858D 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 27 15 35.71 42 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202360633 202360633 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202360633 202360633 G C SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.1566 p.F522L 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 44 21 32.31 59 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202410322 202410322 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 202410322 202410322 G C SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.1106 p.S369C 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 37 23 38.33 53 0 0.00 ALS2CR11 151254 genome.wustl.edu 37 2 202483811 202483811 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 202483811 202483811 C G SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.43 p.D15H 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 108 19 14.96 112 0 0.00 ALS2CR12 130540 genome.wustl.edu 37 2 202211365 202211365 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 202211365 202211365 C G SNP ALS2CR12 ENST00000286190 human ensembl 70_37 -1 known missense c.268 p.V90L 0.000 NULL superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 26 13 33.33 65 0 0.00 CARF 79800 genome.wustl.edu 37 2 203807466 203807466 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 203807466 203807466 C G SNP ALS2CR8 ENST00000320443 human ensembl 70_37 +1 known missense c.82 p.L28V 0.894 NULL NULL - no_errors ALS2CR8 HGNC ENSG00000138380 15 10 40.00 18 0 0.00 CARF 79800 genome.wustl.edu 37 2 203826051 203826051 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 203826051 203826051 G C SNP ALS2CR8 ENST00000320443 human ensembl 70_37 +1 known missense c.734 p.W245S 1.000 NULL NULL - no_errors ALS2CR8 HGNC ENSG00000138380 50 11 18.03 75 0 0.00 ALX1 8092 genome.wustl.edu 37 12 85695176 85695176 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 85695176 85695176 G C SNP ALX1 ENST00000316824 human ensembl 70_37 +1 known missense c.904 p.E302Q 1.000 pfam_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX1 HGNC ENSG00000180318 37 10 21.28 52 0 0.00 ALX4 60529 genome.wustl.edu 37 11 44289058 44289058 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 44289058 44289058 C T SNP ALX4 ENST00000329255 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX4 HGNC ENSG00000052850 41 5 10.87 53 0 0.00 AMACR 23600 genome.wustl.edu 37 5 34004690 34004690 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 34004690 34004690 C T SNP AMACR ENST00000335606 human ensembl 70_37 -1 known missense c.541 p.D181N 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 30 8 21.05 31 0 0.00 AMACR 23600 genome.wustl.edu 37 5 34004818 34004818 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 34004818 34004818 C T SNP AMACR ENST00000335606 human ensembl 70_37 -1 known missense c.413 p.R138K 0.978 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 53 23 30.26 49 0 0.00 AMBP 259 genome.wustl.edu 37 9 116823271 116823271 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 116823271 116823271 G A SNP AMBP ENST00000265132 human ensembl 70_37 -1 known nonsense c.961 p.Q321* 0.989 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 25 10 28.57 26 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46430214 46430214 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 46430214 46430214 C T SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known silent c.3252 p.L1084 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 44 23 34.33 66 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46529873 46529873 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46529873 46529873 G C SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known nonsense c.2207 p.S736* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 61 45 42.45 118 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46564315 46564315 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 46564315 46564315 C G SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.1252 p.E418Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 17 8 32.00 20 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 70_37 -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 22 5 18.52 27 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46569828 46569828 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 46569828 46569828 C G SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.103 p.D35H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 67 48 41.74 85 0 0.00 AMBRA1 55626 genome.wustl.edu 37 11 46569840 46569840 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 46569840 46569840 C T SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.91 p.E31K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 63 59 48.36 92 0 0.00 AMD1 262 genome.wustl.edu 37 6 111208743 111208743 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 111208743 111208743 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.146 p.C49S 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 63 15 18.75 58 0 0.00 AMD1 262 genome.wustl.edu 37 6 111211456 111211456 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111211456 111211456 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known splice_site c.325-1 e4-1 1.000 - - - no_errors AMD1 HGNC ENSG00000123505 21 9 30.00 18 0 0.00 AMD1 262 genome.wustl.edu 37 6 111211525 111211525 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 111211525 111211525 G T SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.393 p.Q131H 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 34 4 10.53 66 0 0.00 AMD1 262 genome.wustl.edu 37 6 111213977 111213977 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 111213977 111213977 G A SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.655 p.D219N 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 74 54 42.19 76 0 0.00 AMD1 262 genome.wustl.edu 37 6 111214813 111214813 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 111214813 111214813 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.999 p.Q333H 1.000 pirsf_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 19 4 17.39 16 0 0.00 AMDHD1 144193 genome.wustl.edu 37 12 96354389 96354389 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 96354389 96354389 G A SNP AMDHD1 ENST00000266736 human ensembl 70_37 +1 known missense c.801 p.M267I 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 103 36 25.90 163 0 0.00 AMDHD1 144193 genome.wustl.edu 37 12 96356187 96356187 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 96356187 96356187 G A SNP AMDHD1 ENST00000266736 human ensembl 70_37 +1 known missense c.868 p.E290K 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 23 18 43.90 22 0 0.00 AMDHD2 51005 genome.wustl.edu 37 16 2578499 2578499 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2578499 2578499 C T SNP AMDHD2 ENST00000413459 human ensembl 70_37 +1 known silent c.909 p.N303 0.863 pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 64 15 18.99 107 0 0.00 AMDHD2 51005 genome.wustl.edu 37 16 2578542 2578542 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2578542 2578542 C G SNP AMDHD2 ENST00000413459 human ensembl 70_37 +1 known missense c.952 p.L318V 1.000 pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 29 17 36.96 42 0 0.00 AMDHD2 51005 genome.wustl.edu 37 16 2581197 2581197 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 2581197 2581197 C T SNP AMDHD2 ENST00000565570 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AMDHD2 HGNC ENSG00000162066 70 8 10.26 50 0 0.00 AMELX 265 genome.wustl.edu 37 X 11316904 11316904 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 11316904 11316904 C G SNP AMELX ENST00000380712 human ensembl 70_37 +1 known nonsense c.423 p.Y141* 0.994 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 37 18 32.73 42 0 0.00 AMFR 267 genome.wustl.edu 37 16 56396402 56396402 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 56396402 56396402 G A SNP AMFR ENST00000492830 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMFR HGNC ENSG00000159461 18 14 43.75 17 0 0.00 AMFR 267 genome.wustl.edu 37 16 56396745 56396745 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 56396745 56396745 G A SNP AMFR ENST00000492830 human ensembl 70_37 -1 known rna NULL NULL 0.827 - - - no_errors AMFR HGNC ENSG00000159461 77 9 10.47 76 0 0.00 AMFR 267 genome.wustl.edu 37 16 56396850 56396850 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 56396850 56396850 G A SNP AMFR ENST00000290649 human ensembl 70_37 -1 known missense c.1903 p.R635W 0.977 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 57 24 29.63 63 0 0.00 AMHR2 269 genome.wustl.edu 37 12 53823280 53823280 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53823280 53823280 G A SNP AMHR2 ENST00000257863 human ensembl 70_37 +1 known silent c.1011 p.Q337 0.984 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC ENSG00000135409 91 29 24.17 164 0 0.00 AMHR2 269 genome.wustl.edu 37 12 53823407 53823407 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53823407 53823407 G T SNP AMHR2 ENST00000257863 human ensembl 70_37 +1 known nonsense c.1138 p.E380* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC ENSG00000135409 25 36 59.02 42 0 0.00 AMICA1 120425 genome.wustl.edu 37 11 118081245 118081245 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 118081245 118081245 G A SNP AMICA1 ENST00000356289 human ensembl 70_37 -1 known silent c.381 p.F127 0.929 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors AMICA1 HGNC ENSG00000160593 39 12 23.08 68 0 0.00 AMIGO3 386724 genome.wustl.edu 37 3 49756377 49756377 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49756377 49756377 G C SNP AMIGO3 ENST00000320431 human ensembl 70_37 -1 known missense c.522 p.F174L 0.988 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AMIGO3 HGNC ENSG00000176020 37 30 44.78 34 0 0.00 AMMECR1 9949 genome.wustl.edu 37 X 109561025 109561025 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 109561025 109561025 C G SNP AMMECR1 ENST00000262844 human ensembl 70_37 -1 known missense c.275 p.G92A 1.000 NULL pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 64 18 21.69 70 0 0.00 AMMECR1L 83607 genome.wustl.edu 37 2 128628868 128628868 + Nonsense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 128628868 128628868 G C SNP AMMECR1L ENST00000272647 human ensembl 70_37 -1 known nonsense c.473 p.S158* 1.000 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 41 6 12.77 64 0 0.00 AMN1 196394 genome.wustl.edu 37 12 31842023 31842023 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 31842023 31842023 C G SNP AMN1 ENST00000281471 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors AMN1 HGNC ENSG00000151743 47 8 14.55 40 0 0.00 AMN1 196394 genome.wustl.edu 37 12 31882028 31882028 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 31882028 31882028 G A SNP AMN1 ENST00000509386 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMN1 HGNC ENSG00000151743 19 11 36.67 38 0 0.00 AMN1 196394 genome.wustl.edu 37 12 31882028 31882028 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 31882028 31882028 G A SNP AMN1 ENST00000509386 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMN1 HGNC ENSG00000151743 59 12 16.90 39 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112024238 112024238 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 112024238 112024238 C T SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.2349 p.R783 0.994 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 32 5 13.51 51 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112054493 112054493 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 112054493 112054493 G C SNP AMOT ENST00000371959 human ensembl 70_37 -1 known missense c.1521 p.F507L 1.000 superfamily_Prefoldin,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 43 7 14.00 47 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112058694 112058694 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 112058694 112058694 A G SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.1284 p.F428 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 65 17 20.73 106 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112058755 112058755 + Nonsense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 112058755 112058755 G C SNP AMOT ENST00000371959 human ensembl 70_37 -1 known nonsense c.1223 p.S408* 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 106 27 20.00 118 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112058936 112058936 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 112058936 112058936 G A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known missense c.1042 p.H348Y 0.981 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 80 23 22.33 95 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112058973 112058973 + Silent SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 112058973 112058973 T A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.1005 p.R335 0.970 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 79 21 20.59 74 0 0.00 AMOT 154796 genome.wustl.edu 37 X 112066006 112066006 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 112066006 112066006 G A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known nonsense c.349 p.Q117* 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 74 52 41.27 113 0 0.00 AMOTL1 154810 genome.wustl.edu 37 11 94533423 94533423 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 94533423 94533423 G A SNP AMOTL1 ENST00000433060 human ensembl 70_37 +1 known missense c.1067 p.R356K 0.987 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 39 44 53.01 121 0 0.00 AMOTL1 154810 genome.wustl.edu 37 11 94587123 94587123 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 94587123 94587123 A G SNP AMOTL1 ENST00000433060 human ensembl 70_37 +1 known missense c.1820 p.E607G 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 28 8 22.22 27 0 0.00 AMOTL2 51421 genome.wustl.edu 37 3 134077427 134077427 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 134077427 134077427 C G SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known missense c.2239 p.D747H 0.069 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 40 7 14.89 54 0 0.00 AMOTL2 51421 genome.wustl.edu 37 3 134080426 134080426 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 134080426 134080426 C T SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known silent c.1503 p.E501 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 87 20 18.69 42 0 0.00 AMOTL2 51421 genome.wustl.edu 37 3 134085180 134085180 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 134085180 134085180 C T SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known silent c.1131 p.R377 1.000 prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 18 13 41.94 22 0 0.00 AMOTL2 51421 genome.wustl.edu 37 3 134085242 134085242 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 134085242 134085242 C T SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known missense c.1069 p.E357K 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 50 12 19.35 31 0 0.00 AMPD1 270 genome.wustl.edu 37 1 115220031 115220031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 115220031 115220031 G C SNP AMPD1 ENST00000520113 human ensembl 70_37 -1 known missense c.1428 p.F476L 0.995 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 33 19 35.85 45 0 0.00 AMPD1 270 genome.wustl.edu 37 1 115231303 115231303 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 115231303 115231303 C T SNP AMPD1 ENST00000520113 human ensembl 70_37 -1 known missense c.193 p.E65K 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 27 19 41.30 56 0 0.00 AMPD2 271 genome.wustl.edu 37 1 110169454 110169454 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 110169454 110169454 G A SNP AMPD2 ENST00000256578 human ensembl 70_37 +1 known missense c.800 p.R267H 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 37 15 28.85 75 0 0.00 AMPD2 271 genome.wustl.edu 37 1 110173305 110173305 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 110173305 110173305 G C SNP AMPD2 ENST00000256578 human ensembl 70_37 +1 known missense c.2320 p.E774Q 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 15 6 28.57 28 0 0.00 AMPD3 272 genome.wustl.edu 37 11 10483213 10483213 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 10483213 10483213 C T SNP AMPD3 ENST00000396553 human ensembl 70_37 +1 known silent c.147 p.I49 0.843 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 54 6 10.00 45 0 0.00 AMPH 273 genome.wustl.edu 37 7 38431444 38431444 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 38431444 38431444 G A SNP AMPH ENST00000356264 human ensembl 70_37 -1 known nonsense c.1783 p.Q595* 0.756 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 43 23 34.85 103 0 0.00 AMPH 273 genome.wustl.edu 37 7 38432237 38432237 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 38432237 38432237 G A SNP AMPH ENST00000460887 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors AMPH HGNC ENSG00000078053 44 10 18.52 27 0 0.00 AMPH 273 genome.wustl.edu 37 7 38468041 38468041 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 38468041 38468041 A G SNP AMPH ENST00000471913 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMPH HGNC ENSG00000078053 30 7 18.92 47 0 0.00 AMPH 273 genome.wustl.edu 37 7 38500909 38500909 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 38500909 38500909 C G SNP AMPH ENST00000356264 human ensembl 70_37 -1 known missense c.991 p.E331Q 1.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 23 10 30.30 67 0 0.00 AMT 275 genome.wustl.edu 37 3 49454675 49454675 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49454675 49454675 G C SNP AMT ENST00000476226 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMT HGNC ENSG00000145020 22 7 24.14 30 0 0.00 AMTN 401138 genome.wustl.edu 37 4 71394916 71394916 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 71394916 71394916 T C SNP AMTN ENST00000339336 human ensembl 70_37 +1 known missense c.346 p.S116P 1.000 NULL NULL - no_errors AMTN HGNC ENSG00000187689 12 4 25.00 43 0 0.00 AMY2A 279 genome.wustl.edu 37 1 104160109 104160109 + Missense_Mutation SNP A A T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 104160109 104160109 A T SNP AMY2A ENST00000414303 human ensembl 70_37 +1 known missense c.47 p.Q16L 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 122 52 29.89 196 0 0.00 AMY2A 279 genome.wustl.edu 37 1 104160634 104160634 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 104160634 104160634 G T SNP AMY2A ENST00000414303 human ensembl 70_37 +1 known missense c.227 p.R76I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 105 66 38.60 240 0 0.00 AMY2A 279 genome.wustl.edu 37 1 104163266 104163266 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 104163266 104163266 G A SNP AMY2A ENST00000414303 human ensembl 70_37 +1 known missense c.838 p.V280I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 48 11 18.64 44 0 0.00 AMY2B 280 genome.wustl.edu 37 1 104114233 104114233 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 104114233 104114233 C G SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.9 p.F3L 0.918 NULL pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 164 25 13.23 180 0 0.00 AMY2B 280 genome.wustl.edu 37 1 104114862 104114862 + Missense_Mutation SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 104114862 104114862 G C SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.299 p.R100T 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 238 34 12.50 332 1 0.30 AMY2B 280 genome.wustl.edu 37 1 104115771 104115771 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 104115771 104115771 C T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known silent c.402 p.F134 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 274 84 23.46 476 0 0.00 AMY2B 280 genome.wustl.edu 37 1 104122043 104122043 + Missense_Mutation SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 104122043 104122043 A T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.1457 p.D486V 0.000 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 338 256 42.88 519 0 0.00 AMY2B 280 genome.wustl.edu 37 1 104122043 104122043 + Missense_Mutation SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 104122043 104122043 A T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.1457 p.D486V 0.000 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 42 31 42.47 49 0 0.00 AMZ1 155185 genome.wustl.edu 37 7 2740156 2740156 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 7 2740156 2740156 C T SNP AMZ1 ENST00000312371 human ensembl 70_37 +1 known missense c.71 p.T24I 0.048 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 72 42 36.84 38 0 0.00 AMZ1 155185 genome.wustl.edu 37 7 2740305 2740305 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 2740305 2740305 C T SNP AMZ1 ENST00000312371 human ensembl 70_37 +1 known missense c.220 p.P74S 0.998 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 16 12 42.86 73 0 0.00 AMZ2 51321 genome.wustl.edu 37 17 66247275 66247275 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 66247275 66247275 G C SNP AMZ2 ENST00000359904 human ensembl 70_37 +1 known missense c.542 p.R181T 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 84 40 32.26 80 0 0.00 AMZ2 51321 genome.wustl.edu 37 17 66250580 66250580 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 66250580 66250580 G C SNP AMZ2 ENST00000359904 human ensembl 70_37 +1 known missense c.622 p.D208H 0.998 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 50 31 38.27 48 0 0.00 AMZ2P1 201283 genome.wustl.edu 37 17 62968902 62968902 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 62968902 62968902 C G SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 0.218 - - - no_errors AMZ2P1 HGNC ENSG00000214174 17 10 37.04 19 0 0.00 AMZ2P1 201283 genome.wustl.edu 37 17 62969059 62969059 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 62969059 62969059 G C SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMZ2P1 HGNC ENSG00000214174 28 13 31.71 45 0 0.00 AMZ2P1 201283 genome.wustl.edu 37 17 62969586 62969586 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 62969586 62969586 G C SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AMZ2P1 HGNC ENSG00000214174 33 11 25.00 17 0 0.00 ANAPC1 64682 genome.wustl.edu 37 2 112588897 112588897 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 112588897 112588897 G A SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known missense c.2591 p.P864L 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 33 19 36.54 40 0 0.00 ANAPC1 64682 genome.wustl.edu 37 2 112608391 112608391 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 112608391 112608391 G C SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known missense c.1612 p.P538A 0.994 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 127 33 20.62 184 0 0.00 ANAPC1 64682 genome.wustl.edu 37 2 112638298 112638298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 112638298 112638298 C T SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 49 42 46.15 102 0 0.00 ANAPC15 25906 genome.wustl.edu 37 11 71818495 71818495 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 11 71818495 71818495 G A SNP ANAPC15 ENST00000543050 human ensembl 70_37 -1 putative nonsense c.475 p.Q159* 0.001 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 61 13 17.57 102 0 0.00 ANAPC15 25906 genome.wustl.edu 37 11 71818648 71818648 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 71818648 71818648 G A SNP ANAPC15 ENST00000543050 human ensembl 70_37 -1 putative missense c.322 p.H108Y 0.002 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 42 19 30.65 49 0 0.00 ANAPC15 25906 genome.wustl.edu 37 11 71821638 71821638 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 71821638 71821638 G A SNP ANAPC15 ENST00000227618 human ensembl 70_37 -1 known silent c.132 p.I44 0.748 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 20 17 44.74 44 0 0.00 ANAPC16 119504 genome.wustl.edu 37 10 73989994 73989994 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 73989994 73989994 C T SNP ANAPC16 ENST00000496924 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ANAPC16 HGNC ENSG00000166295 19 12 38.71 19 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140069483 140069483 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 140069483 140069483 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.2380 p.E794K 1.000 pfam_APC_su2_C pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 24 4 14.29 23 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140080858 140080858 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 140080858 140080858 C G SNP ANAPC2 ENST00000495611 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANAPC2 HGNC ENSG00000176248 15 4 21.05 18 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140082173 140082173 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 140082173 140082173 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.500 p.R167K 0.225 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 26 15 36.59 35 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140082187 140082187 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 140082187 140082187 G C SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.486 p.F162L 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 15 20 55.56 30 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140082274 140082274 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 140082274 140082274 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known silent c.399 p.E133 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 14 22 61.11 21 0 0.00 ANAPC2 29882 genome.wustl.edu 37 9 140082506 140082506 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 9 140082506 140082506 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.167 p.R56Q 0.979 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 41 51 55.43 53 0 0.00 ANAPC5 51433 genome.wustl.edu 37 12 121757584 121757584 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121757584 121757584 C G SNP ANAPC5 ENST00000261819 human ensembl 70_37 -1 known missense c.1553 p.R518T 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 28 9 24.32 30 0 0.00 ANAPC7 51434 genome.wustl.edu 37 12 110819749 110819749 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 110819749 110819749 G C SNP ANAPC7 ENST00000455511 human ensembl 70_37 -1 known missense c.1042 p.H348D 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 19 7 26.92 33 0 0.00 ANGEL1 23357 genome.wustl.edu 37 14 77273120 77273120 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 77273120 77273120 C G SNP ANGEL1 ENST00000251089 human ensembl 70_37 -1 known missense c.1019 p.R340T 0.971 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 405 109 21.21 592 0 0.00 ANGEL2 90806 genome.wustl.edu 37 1 213173781 213173781 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 213173781 213173781 G A SNP ANGEL2 ENST00000498650 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANGEL2 HGNC ENSG00000174606 53 17 24.29 45 0 0.00 ANGEL2 90806 genome.wustl.edu 37 1 213180441 213180442 + RNA INS - - A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 213180441 213180442 - A INS ANGEL2 ENST00000460337 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.007 - - - no_errors ANGEL2 HGNC ENSG00000174606 10 3 23.08 11 0 0.00 ANGPT1 284 genome.wustl.edu 37 8 108297059 108297060 + Frame_Shift_Ins INS - - GA TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 108297059 108297060 - GA INS ANGPT1 ENST00000517746 human ensembl 70_37 -1 known frame_shift_ins c.1056_1055 p.G353fs 0.742:0.996 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ENSG00000154188 54 8 12.90 40 0 0.00 ANGPT1 284 genome.wustl.edu 37 8 108509553 108509553 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 108509553 108509553 G C SNP ANGPT1 ENST00000517746 human ensembl 70_37 -1 known missense c.234 p.F78L 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ENSG00000154188 45 13 22.41 36 0 0.00 ANGPT2 285 genome.wustl.edu 37 8 6360664 6360664 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 8 6360664 6360664 C T SNP ANGPT2 ENST00000325203 human ensembl 70_37 -1 known silent c.1449 p.S483 0.987 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT2 HGNC ENSG00000091879 45 11 19.64 46 0 0.00 ANGPT4 51378 genome.wustl.edu 37 20 855045 855045 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 855045 855045 G T SNP ANGPT4 ENST00000381922 human ensembl 70_37 -1 known silent c.1233 p.V411 0.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 28 12 30.00 42 0 0.00 ANGPT4 51378 genome.wustl.edu 37 20 865825 865825 + Missense_Mutation SNP A A G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 865825 865825 A G SNP ANGPT4 ENST00000381922 human ensembl 70_37 -1 known missense c.731 p.V244A 0.982 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 22 5 18.52 19 0 0.00 ANGPTL1 9068 genome.wustl.edu 37 1 178822038 178822038 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 178822038 178822038 G C SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known missense c.1068 p.I356M 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 114 31 21.38 66 0 0.00 ANGPTL1 9068 genome.wustl.edu 37 1 178822736 178822736 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 178822736 178822736 T G SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known missense c.1010 p.N337T 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 30 16 34.78 43 0 0.00 ANGPTL1 9068 genome.wustl.edu 37 1 178822864 178822864 + Silent SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 178822864 178822864 A G SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known silent c.882 p.Y294 0.908 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 17 21 55.26 50 0 0.00 ANGPTL3 27329 genome.wustl.edu 37 1 63066839 63066839 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 63066839 63066839 G C SNP ANGPTL3 ENST00000371129 human ensembl 70_37 +1 known missense c.693 p.L231F 0.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL3 HGNC ENSG00000132855 68 13 16.05 63 0 0.00 ANGPTL5 253935 genome.wustl.edu 37 11 101762304 101762305 + Frame_Shift_Ins INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 101762304 101762305 - G INS ANGPTL5 ENST00000334289 human ensembl 70_37 -1 known frame_shift_ins c.873_872 p.K291fs 0.998:1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ENSG00000187151 34 12 26.09 68 0 0.00 ANGPTL5 253935 genome.wustl.edu 37 11 101771164 101771164 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 101771164 101771164 G A SNP ANGPTL5 ENST00000334289 human ensembl 70_37 -1 known silent c.658 p.L220 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ENSG00000187151 0 5 100.00 22 0 0.00 ANGPTL7 10218 genome.wustl.edu 37 1 11249851 11249851 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 1 11249851 11249851 G T SNP ANGPTL7 ENST00000376819 human ensembl 70_37 +1 known missense c.215 p.R72M 0.008 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL7 HGNC ENSG00000171819 27 4 12.90 40 0 0.00 ANHX 647589 genome.wustl.edu 37 12 133795514 133795514 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 133795514 133795514 C T SNP ANHX ENST00000419717 human ensembl 70_37 -1 known missense c.1097 p.G366E 0.829 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC ENSG00000227059 39 16 29.09 61 0 0.00 ANHX 647589 genome.wustl.edu 37 12 133804466 133804466 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 133804466 133804466 C T SNP ANHX ENST00000419717 human ensembl 70_37 -1 known missense c.445 p.E149K 0.905 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC ENSG00000227059 34 5 12.82 47 0 0.00 ANHX 647589 genome.wustl.edu 37 12 133810919 133810919 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133810919 133810919 C G SNP ANHX ENST00000419717 human ensembl 70_37 -1 known silent c.24 p.L8 0.331 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC ENSG00000227059 32 13 28.89 35 0 0.00 ANK1 286 genome.wustl.edu 37 8 41530136 41530136 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 41530136 41530136 C T SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known missense c.4832 p.R1611Q 0.994 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 8 8 50.00 40 0 0.00 ANK1 286 genome.wustl.edu 37 8 41546047 41546047 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 41546047 41546047 G A SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known missense c.4165 p.L1389F 0.997 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 68 77 53.10 198 0 0.00 ANK1 286 genome.wustl.edu 37 8 41554223 41554223 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 41554223 41554223 G C SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known missense c.2706 p.I902M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 42 5 10.64 73 0 0.00 ANK1 286 genome.wustl.edu 37 8 41563760 41563760 + Splice_Site SNP C C A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 8 41563760 41563760 C A SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known splice_site c.1999-1 e18-1 1.000 - - - no_errors ANK1 HGNC ENSG00000029534 28 18 39.13 53 0 0.00 ANK2 287 genome.wustl.edu 37 4 114117523 114117523 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 114117523 114117523 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known splice_site c.187-1 e3-1 1.000 - - - no_errors ANK2 HGNC ENSG00000145362 24 20 45.45 50 0 0.00 ANK2 287 genome.wustl.edu 37 4 114163301 114163301 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 114163301 114163301 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.827 p.R276T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 46 19 29.23 68 0 0.00 ANK2 287 genome.wustl.edu 37 4 114170951 114170951 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 114170951 114170951 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.923 p.R308Q 0.695 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 26 20 43.48 33 0 0.00 ANK2 287 genome.wustl.edu 37 4 114254283 114254283 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 114254283 114254283 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.3298 p.E1100Q 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 73 24 24.74 102 0 0.00 ANK2 287 genome.wustl.edu 37 4 114267077 114267077 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 114267077 114267077 C T SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.4270 p.P1424S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 92 18 16.36 154 0 0.00 ANK2 287 genome.wustl.edu 37 4 114274497 114274497 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 114274497 114274497 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.4723 p.E1575K 0.418 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 15 12 44.44 42 0 0.00 ANK2 287 genome.wustl.edu 37 4 114275565 114275565 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 114275565 114275565 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.5791 p.G1931R 0.089 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 45 7 13.46 81 0 0.00 ANK2 287 genome.wustl.edu 37 4 114278256 114278256 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 114278256 114278256 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.8482 p.D2828H 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 20 4 16.67 47 0 0.00 ANK2 287 genome.wustl.edu 37 4 114278343 114278343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 114278343 114278343 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.8569 p.E2857Q 0.731 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 16 19 54.29 32 0 0.00 ANK2 287 genome.wustl.edu 37 4 114279594 114279594 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 114279594 114279594 C A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.9820 p.P3274T 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 21 10 32.26 17 0 0.00 ANK2 287 genome.wustl.edu 37 4 114280354 114280354 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 114280354 114280354 C T SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10580 p.S3527L 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 19 18 48.65 32 0 0.00 ANK2 287 genome.wustl.edu 37 4 114280416 114280416 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 114280416 114280416 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10642 p.E3548Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 21 6 22.22 16 0 0.00 ANK2 287 genome.wustl.edu 37 4 114281990 114281990 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 114281990 114281990 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10693 p.E3565K 1.000 superfamily_DEATH-like,smart_Death pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 43 35 44.87 92 0 0.00 ANK2 287 genome.wustl.edu 37 4 114290917 114290917 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 4 114290917 114290917 C A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.11566 p.P3856T 0.780 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 3 3 50.00 12 0 0.00 ANK3 288 genome.wustl.edu 37 10 61789498 61789499 + RNA DEL AC AC - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 10 61789498 61789499 AC - DEL ANK3 ENST00000480699 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ANK3 HGNC ENSG00000151150 20 3 13.04 39 0 0.00 ANK3 288 genome.wustl.edu 37 10 61802484 61802484 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 61802484 61802484 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.13099 p.E4367Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 46 38 45.24 61 0 0.00 ANK3 288 genome.wustl.edu 37 10 61815703 61815703 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61815703 61815703 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.12778 p.E4260K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 15 5 25.00 30 0 0.00 ANK3 288 genome.wustl.edu 37 10 61815726 61815726 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61815726 61815726 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.12755 p.G4252E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 7 3 30.00 24 0 0.00 ANK3 288 genome.wustl.edu 37 10 61829982 61829982 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 61829982 61829982 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.10657 p.E3553K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 18 10 35.71 19 0 0.00 ANK3 288 genome.wustl.edu 37 10 61830231 61830231 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61830231 61830231 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.10408 p.E3470Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 29 13 30.95 41 0 0.00 ANK3 288 genome.wustl.edu 37 10 61832013 61832013 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 61832013 61832013 G T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.8626 p.H2876N 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 24 16 40.00 45 0 0.00 ANK3 288 genome.wustl.edu 37 10 61832718 61832718 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 61832718 61832718 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.7921 p.A2641T 0.002 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 50 16 24.24 69 0 0.00 ANK3 288 genome.wustl.edu 37 10 61834248 61834248 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 61834248 61834248 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.6391 p.E2131Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 31 23 42.59 33 0 0.00 ANK3 288 genome.wustl.edu 37 10 61835402 61835402 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61835402 61835402 G A SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.5237 p.S1746F 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 36 20 35.71 45 0 0.00 ANK3 288 genome.wustl.edu 37 10 61835654 61835654 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 61835654 61835654 G C SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known nonsense c.4985 p.S1662* 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 97 23 19.17 112 0 0.00 ANK3 288 genome.wustl.edu 37 10 61846553 61846553 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61846553 61846553 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known silent c.3630 p.R1210 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 92 61 39.87 145 0 0.00 ANK3 288 genome.wustl.edu 37 10 61847972 61847972 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 61847972 61847972 G A SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3473 p.T1158I 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 25 3 10.71 19 0 0.00 ANK3 288 genome.wustl.edu 37 10 61847994 61847994 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 61847994 61847994 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3451 p.G1151S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 110 25 18.52 25 0 0.00 ANK3 288 genome.wustl.edu 37 10 61847994 61847994 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 61847994 61847994 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3451 p.G1151S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 194 52 21.14 101 0 0.00 ANK3 288 genome.wustl.edu 37 10 61868601 61868601 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 10 61868601 61868601 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3160 p.A1054T 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 36 4 10.00 70 0 0.00 ANK3 288 genome.wustl.edu 37 10 61898737 61898737 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61898737 61898737 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.2723 p.G908E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 11 4 26.67 44 0 0.00 ANK3 288 genome.wustl.edu 37 10 61926591 61926591 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 61926591 61926591 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.2542 p.D848H 0.999 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 10 6 37.50 22 0 0.00 ANKAR 150709 genome.wustl.edu 37 2 190592600 190592600 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 190592600 190592600 C G SNP ANKAR ENST00000313581 human ensembl 70_37 +1 known missense c.2654 p.S885C 0.909 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 27 18 40.00 45 0 0.00 ANKAR 150709 genome.wustl.edu 37 2 190611212 190611212 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 190611212 190611212 G C SNP ANKAR ENST00000313581 human ensembl 70_37 +1 known missense c.4164 p.K1388N 0.340 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 18 6 25.00 15 0 0.00 ANKDD1A 348094 genome.wustl.edu 37 15 65204164 65204164 + Splice_Site SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 65204164 65204164 G A SNP ANKDD1A ENST00000380230 human ensembl 70_37 +1 known splice_site c.34+1 e1+1 0.122 - - - no_errors ANKDD1A HGNC ENSG00000166839 8 6 42.86 23 0 0.00 ANKDD1A 348094 genome.wustl.edu 37 15 65212091 65212091 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 65212091 65212091 C T SNP ANKDD1A ENST00000491145 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKDD1A HGNC ENSG00000166839 22 7 24.14 17 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54431374 54431374 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 54431374 54431374 C G SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.577 p.L193V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 38 29 43.28 53 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54526454 54526454 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 54526454 54526454 G C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.1123 p.D375H 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 120 40 25.00 176 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54526549 54526549 + Splice_Site SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 54526549 54526549 T C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known splice_site c.1216+2 e10+2 1.000 - - - no_errors ANKFN1 HGNC ENSG00000153930 11 4 26.67 20 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54534305 54534305 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 54534305 54534305 G T SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.1300 p.V434L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 16 5 23.81 37 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54535256 54535256 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54535256 54535256 G C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known silent c.1482 p.L494 0.816 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 47 9 16.07 48 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54543853 54543853 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 54543853 54543853 C G SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known nonsense c.1703 p.S568* 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 22 32 59.26 42 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54588061 54588061 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54588061 54588061 G A SNP ANKFN1 ENST00000566473 human ensembl 70_37 +1 novel missense c.2881 p.E961K 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 24 10 29.41 21 0 0.00 ANKFN1 162282 genome.wustl.edu 37 17 54588280 54588280 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 54588280 54588280 G A SNP ANKFN1 ENST00000566473 human ensembl 70_37 +1 novel missense c.3100 p.E1034K 0.976 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 24 27 52.94 90 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4072504 4072504 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4072504 4072504 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3491 p.R1164H 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 12 3 20.00 15 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4077219 4077219 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 4077219 4077219 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3034 p.E1012K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 47 18 27.27 33 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4077219 4077219 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 4077219 4077219 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3034 p.E1012K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 88 18 16.98 91 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4088126 4088126 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 4088126 4088126 G T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known silent c.1812 p.I604 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 22 18 45.00 43 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4088218 4088218 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 4088218 4088218 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.1720 p.A574T 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 10 18 64.29 51 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4098307 4098307 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 17 4098307 4098307 G A SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known silent c.1464 p.R488 0.066 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 8 28 77.78 32 0 0.00 ANKFY1 51479 genome.wustl.edu 37 17 4120286 4120286 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 4120286 4120286 G A SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known silent c.576 p.L192 0.886 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 19 22 53.66 38 0 0.00 ANKH 56172 genome.wustl.edu 37 5 14741993 14741993 + Silent SNP T T G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 14741993 14741993 T G SNP ANKH ENST00000284268 human ensembl 70_37 -1 known silent c.954 p.T318 0.733 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 77 46 37.40 105 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139815719 139815719 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 139815719 139815719 C G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.337 p.L113V 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 10 19 65.52 22 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139838437 139838437 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 139838437 139838437 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known silent c.1470 p.L490 0.708 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 38 43 53.09 43 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139838931 139838931 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 139838931 139838931 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known silent c.1663 p.L555 0.985 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 16 3 15.79 43 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139876458 139876458 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 139876458 139876458 G T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.2599 p.V867L 0.906 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 18 3 14.29 36 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139884447 139884447 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 139884447 139884447 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known nonsense c.3046 p.Q1016* 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 20 10 33.33 28 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139884800 139884800 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 139884800 139884800 G C SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3244 p.E1082Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 16 16 50.00 22 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139889325 139889325 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 139889325 139889325 C A SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3869 p.S1290Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 30 23 43.40 51 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139889366 139889366 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 139889366 139889366 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3910 p.H1304Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 37 19 33.93 62 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139892455 139892455 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 139892455 139892455 C G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.4147 p.Q1383E 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 21 13 38.24 38 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139892498 139892498 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139892498 139892498 T G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.4190 p.I1397S 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 14 6 30.00 44 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139908053 139908053 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 139908053 139908053 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.5522 p.S1841F 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 80 54 40.30 162 0 0.00 ANKHD1 54882 genome.wustl.edu 37 5 139928631 139928631 + Missense_Mutation SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 5 139928631 139928631 A G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.7820 p.E2607G 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 25 5 16.67 56 0 0.00 ANKIB1 54467 genome.wustl.edu 37 7 91936869 91936869 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 91936869 91936869 G C SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.385 p.D129H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 27 10 27.03 42 0 0.00 ANKIB1 54467 genome.wustl.edu 37 7 91936908 91936908 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 91936908 91936908 G A SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.424 p.D142N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 40 19 32.20 50 0 0.00 ANKIB1 54467 genome.wustl.edu 37 7 92027863 92027863 + Missense_Mutation SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 92027863 92027863 A G SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.2870 p.D957G 0.980 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 143 17 10.62 213 0 0.00 ANKIB1 54467 genome.wustl.edu 37 7 92027863 92027863 + Missense_Mutation SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 92027863 92027863 A G SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.2870 p.D957G 0.980 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 54 8 12.90 37 0 0.00 ANKK1 255239 genome.wustl.edu 37 11 113270974 113270974 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 113270974 113270974 C T SNP ANKK1 ENST00000303941 human ensembl 70_37 +1 known silent c.2283 p.A761 0.006 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ENSG00000170209 6 28 82.35 23 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17396272 17396272 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17396272 17396272 C T SNP ANKLE1 ENST00000394458 human ensembl 70_37 +1 known missense c.1409 p.S470L 0.005 NULL pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM - no_errors ANKLE1 HGNC ENSG00000160117 29 22 43.14 43 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17397487 17397487 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 17397487 17397487 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1757 p.C586F 0.697 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 17 4 19.05 22 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17397495 17397495 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 17397495 17397495 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1765 p.V589L 0.072 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 13 5 27.78 9 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17397495 17397495 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 17397495 17397495 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1765 p.V589L 0.072 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 13 4 23.53 10 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17397497 17397497 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 17397497 17397497 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative silent c.1767 p.V589 0.085 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 12 6 33.33 20 0 0.00 ANKLE1 126549 genome.wustl.edu 37 19 17397501 17397501 + Missense_Mutation SNP T T G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 17397501 17397501 T G SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1771 p.L591V 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 14 5 26.32 10 0 0.00 ANKLE2 23141 genome.wustl.edu 37 12 133306407 133306407 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 133306407 133306407 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.2341 p.D781N 0.029 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 48 18 27.27 86 0 0.00 ANKLE2 23141 genome.wustl.edu 37 12 133313568 133313568 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 133313568 133313568 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.1504 p.E502K 0.017 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 15 9 37.50 27 0 0.00 ANKLE2 23141 genome.wustl.edu 37 12 133331702 133331702 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 133331702 133331702 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.199 p.A67T 0.413 superfamily_LEM-like_dom pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 68 38 35.51 75 0 0.00 ANKMY1 51281 genome.wustl.edu 37 2 241492376 241492376 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 241492376 241492376 G C SNP ANKMY1 ENST00000272972 human ensembl 70_37 -1 known missense c.168 p.H56Q 0.001 NULL pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 49 8 14.04 86 0 0.00 ANKRD1 27063 genome.wustl.edu 37 10 92675933 92675933 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 92675933 92675933 C T SNP ANKRD1 ENST00000371697 human ensembl 70_37 -1 known missense c.646 p.D216N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 26 24 48.00 45 0 0.00 ANKRD10 55608 genome.wustl.edu 37 13 111552900 111552900 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 111552900 111552900 G A SNP ANKRD10 ENST00000475809 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD10 HGNC ENSG00000088448 21 8 27.59 34 0 0.00 ANKRD11 29123 genome.wustl.edu 37 16 89349405 89349405 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 89349405 89349405 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known missense c.3545 p.R1182K 0.023 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 16 37 69.81 69 0 0.00 ANKRD11 29123 genome.wustl.edu 37 16 89350571 89350571 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89350571 89350571 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.2379 p.K793 0.925 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 28 19 40.43 56 0 0.00 ANKRD11 29123 genome.wustl.edu 37 16 89351174 89351174 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89351174 89351174 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.1776 p.V592 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 8 8 50.00 12 0 0.00 ANKRD11 29123 genome.wustl.edu 37 16 89352026 89352026 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 89352026 89352026 G A SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.924 p.F308 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 196 37 15.88 167 0 0.00 ANKRD11 29123 genome.wustl.edu 37 16 89367174 89367174 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 89367174 89367174 G A SNP ANKRD11 ENST00000566858 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD11 HGNC ENSG00000167522 5 4 44.44 16 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255242 9255242 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 9255242 9255242 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.1977 p.E659 0.990 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 14 7 33.33 23 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255252 9255252 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9255252 9255252 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.1987 p.E663* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 15 8 34.78 36 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255252 9255252 + Nonsense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 9255252 9255252 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.1987 p.E663* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 30 5 14.29 33 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255339 9255339 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255339 9255339 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2074 p.D692H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 54 17 23.94 45 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255384 9255384 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255384 9255384 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2119 p.E707K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 48 14 22.58 35 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255387 9255387 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255387 9255387 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2122 p.D708N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 49 14 22.22 33 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255389 9255389 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255389 9255389 T A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2124 p.D708E 0.918 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 49 13 20.97 33 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 14 9 39.13 26 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 27 3 10.00 31 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 46 11 19.30 26 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255435 9255435 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255435 9255435 T A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2170 p.S724T 0.374 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 45 11 19.64 24 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255588 9255588 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255588 9255588 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2323 p.E775Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 17 10 37.04 19 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255690 9255690 + Nonsense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255690 9255690 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.2425 p.E809* 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 15 12 44.44 21 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255795 9255795 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255795 9255795 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2530 p.E844K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 17 15 44.12 28 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255813 9255813 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255813 9255813 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2548 p.E850K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 17 12 41.38 27 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255831 9255831 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255831 9255831 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2566 p.D856H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 12 9 42.86 27 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9255921 9255921 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255921 9255921 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2656 p.E886Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 15 6 28.57 13 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9256059 9256059 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9256059 9256059 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2794 p.E932Q 0.618 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 14 5 26.32 19 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9256897 9256897 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 18 9256897 9256897 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.3632 p.S1211I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 23 3 11.54 38 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9257210 9257210 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 9257210 9257210 C T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.3945 p.V1315 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 37 13 26.00 31 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9258423 9258423 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 9258423 9258423 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.5158 p.E1720K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 17 6 26.09 31 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9258686 9258686 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 9258686 9258686 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.5421 p.E1807 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 48 11 18.64 37 0 0.00 ANKRD12 23253 genome.wustl.edu 37 18 9281101 9281101 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 9281101 9281101 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.6166 p.D2056N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 45 10 18.18 75 0 0.00 ANKRD13B 124930 genome.wustl.edu 37 17 27936291 27936291 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 27936291 27936291 G C SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.753 p.E251D 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 36 7 16.28 55 0 0.00 ANKRD13B 124930 genome.wustl.edu 37 17 27938969 27938969 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27938969 27938969 G C SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.1045 p.E349Q 0.999 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 43 6 12.24 54 0 0.00 ANKRD13B 124930 genome.wustl.edu 37 17 27939913 27939913 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27939913 27939913 C T SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known silent c.1584 p.I528 0.999 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 17 4 19.05 47 0 0.00 ANKRD13B 124930 genome.wustl.edu 37 17 27940575 27940575 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 27940575 27940575 T A SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.1856 p.L619Q 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 9 3 25.00 20 0 0.00 ANKRD13C 81573 genome.wustl.edu 37 1 70736563 70736563 + Missense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 70736563 70736563 G T SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known missense c.1471 p.P491T 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 29 4 12.12 41 0 0.00 ANKRD13C 81573 genome.wustl.edu 37 1 70801747 70801747 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 70801747 70801747 T G SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known missense c.466 p.N156H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 5 8 61.54 22 0 0.00 ANKRD13C 81573 genome.wustl.edu 37 1 70819990 70819990 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 70819990 70819990 G A SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known silent c.102 p.L34 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 31 6 16.22 97 0 0.00 ANKRD13D 338692 genome.wustl.edu 37 11 67059210 67059210 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 67059210 67059210 G C SNP ANKRD13D ENST00000511455 human ensembl 70_37 +1 known missense c.534 p.K178N 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 50 11 18.03 34 0 0.00 ANKRD13D 338692 genome.wustl.edu 37 11 67069645 67069645 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 67069645 67069645 C T SNP ANKRD13D ENST00000511455 human ensembl 70_37 +1 known missense c.1660 p.P554S 0.011 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 49 18 26.87 65 0 0.00 ANKRD16 54522 genome.wustl.edu 37 10 5925012 5925012 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 5925012 5925012 C T SNP ANKRD16 ENST00000380092 human ensembl 70_37 -1 known missense c.806 p.R269K 0.981 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC ENSG00000134461 13 15 53.57 31 0 0.00 ANKRD17 26057 genome.wustl.edu 37 4 73956516 73956516 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 73956516 73956516 G A SNP ANKRD17 ENST00000358602 human ensembl 70_37 -1 known nonsense c.6829 p.Q2277* 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 24 8 25.00 36 0 0.00 ANKRD17 26057 genome.wustl.edu 37 4 73985919 73985919 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 73985919 73985919 C G SNP ANKRD17 ENST00000358602 human ensembl 70_37 -1 known missense c.3985 p.D1329H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 50 13 20.63 78 0 0.00 ANKRD18A 253650 genome.wustl.edu 37 9 38620249 38620249 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 9 38620249 38620249 C T SNP ANKRD18A ENST00000399703 human ensembl 70_37 -1 known missense c.34 p.G12S 0.003 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 53 29 34.52 138 0 0.00 ANKRD18B 441459 genome.wustl.edu 37 9 33541216 33541216 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 33541216 33541216 G C SNP ANKRD18B ENST00000290943 human ensembl 70_37 +1 known missense c.880 p.G294R 0.009 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 35 5 12.50 30 0 0.00 ANKRD18B 441459 genome.wustl.edu 37 9 33550477 33550477 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33550477 33550477 T G SNP ANKRD18B ENST00000290943 human ensembl 70_37 +1 known missense c.1931 p.F644C 0.053 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 37 15 28.85 74 0 0.00 ANKRD18CP 100287922 genome.wustl.edu 37 9 99924198 99924198 + RNA SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 9 99924198 99924198 C T SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ANKRD18CP HGNC ENSG00000159712 39 26 40.00 111 0 0.00 ANKRD18CP 100287922 genome.wustl.edu 37 9 99942787 99942787 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 99942787 99942787 C G SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors ANKRD18CP HGNC ENSG00000159712 27 5 15.62 79 0 0.00 ANKRD18CP 100287922 genome.wustl.edu 37 9 99942941 99942941 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 99942941 99942941 A C SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors ANKRD18CP HGNC ENSG00000159712 26 11 29.73 52 0 0.00 ANKRD19P 138649 genome.wustl.edu 37 9 95571763 95571763 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95571763 95571763 C T SNP ANKRD19P ENST00000473204 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors ANKRD19P HGNC ENSG00000187984 4 4 50.00 11 0 0.00 ANKRD20A11P 391267 genome.wustl.edu 37 21 15282846 15282846 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 15282846 15282846 G C SNP ANKRD20A11P ENST00000442192 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 94 27 22.31 97 0 0.00 ANKRD20A11P 391267 genome.wustl.edu 37 21 15297553 15297553 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 21 15297553 15297553 C T SNP ANKRD20A11P ENST00000442192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 184 31 14.42 196 0 0.00 ANKRD20A12P 100874392 genome.wustl.edu 37 1 142715054 142715054 + RNA SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 142715054 142715054 G A SNP ANKRD20A12P ENST00000595144 human ensembl 70_37 -1 known rna NULL NULL 0.086 - - - no_errors ANKRD20A12P HGNC ENSG00000242676 48 26 35.14 97 0 0.00 ANKRD20A12P 100874392 genome.wustl.edu 37 1 142716663 142716663 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 142716663 142716663 T C SNP ANKRD20A12P ENST00000595144 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ANKRD20A12P HGNC ENSG00000242676 101 13 11.40 102 0 0.00 ANKRD20A2 441430 genome.wustl.edu 37 9 42368549 42368549 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 42368549 42368549 C T SNP ANKRD20A2 ENST00000377601 human ensembl 70_37 +1 known silent c.135 p.D45 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A2 HGNC ENSG00000183148 139 18 11.46 187 0 0.00 ANKRD20A2 441430 genome.wustl.edu 37 9 42410417 42410417 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 42410417 42410417 G C SNP ANKRD20A2 ENST00000377601 human ensembl 70_37 +1 known missense c.2406 p.E802D 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A2 HGNC ENSG00000183148 33 22 40.00 74 0 0.00 ANKRD20A4 728747 genome.wustl.edu 37 9 69416171 69416171 + Missense_Mutation SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 69416171 69416171 A G SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known missense c.1118 p.Q373R 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 132 23 14.84 221 0 0.00 ANKRD20A4 728747 genome.wustl.edu 37 9 69420382 69420382 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 69420382 69420382 G A SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known silent c.1272 p.T424 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 90 11 10.89 44 0 0.00 ANKRD20A4 728747 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 69421905 69421905 A - DEL ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 44 8 15.38 49 0 0.00 ANKRD20A4 728747 genome.wustl.edu 37 9 69423478 69423478 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 69423478 69423478 C A SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known missense c.1774 p.L592M 0.656 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 43 8 15.38 55 0 0.00 ANKRD20A5P 440482 genome.wustl.edu 37 18 14179188 14179188 + RNA SNP T T C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 18 14179188 14179188 T C SNP ANKRD20A5P ENST00000581181 human ensembl 70_37 +1 known rna NULL NULL 0.115 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 81 11 11.96 39 0 0.00 ANKRD20A5P 440482 genome.wustl.edu 37 18 14183964 14183964 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 14183964 14183964 C G SNP ANKRD20A5P ENST00000581181 human ensembl 70_37 +1 known rna NULL NULL 0.971 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 128 55 29.73 205 1 0.48 ANKRD20A5P 440482 genome.wustl.edu 37 18 14184206 14184206 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 18 14184206 14184206 G A SNP ANKRD20A5P ENST00000581935 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 34 7 17.07 11 0 0.00 ANKRD20A5P 440482 genome.wustl.edu 37 18 14184361 14184362 + RNA INS - - T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 18 14184361 14184362 - T INS ANKRD20A5P ENST00000581935 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 23 5 17.86 21 0 0.00 ANKRD20A5P 440482 genome.wustl.edu 37 18 14225642 14225642 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 14225642 14225642 A C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 29 14 32.56 57 0 0.00 ANKRD20A5P 440482 genome.wustl.edu 37 18 14225685 14225685 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 14225685 14225685 G C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.252 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 124 57 31.49 224 1 0.44 ANKRD20A5P 440482 genome.wustl.edu 37 18 14234762 14234762 + RNA SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 18 14234762 14234762 T C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 146 31 17.51 152 0 0.00 ANKRD20A8P 729171 genome.wustl.edu 37 2 95488761 95488761 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 95488761 95488761 C A SNP ANKRD20A8P ENST00000432432 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 67 40 37.38 166 0 0.00 ANKRD20A8P 729171 genome.wustl.edu 37 2 95522897 95522897 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 95522897 95522897 G A SNP ANKRD20A8P ENST00000432432 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 82 28 25.45 145 0 0.00 ANKRD22 118932 genome.wustl.edu 37 10 90611348 90611348 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 90611348 90611348 G C SNP ANKRD22 ENST00000371930 human ensembl 70_37 -1 known missense c.17 p.S6C 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 130 36 21.69 148 0 0.00 ANKRD24 170961 genome.wustl.edu 37 19 4216286 4216286 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 4216286 4216286 G A SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known missense c.1276 p.E426K 0.820 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 22 17 43.59 57 0 0.00 ANKRD24 170961 genome.wustl.edu 37 19 4217321 4217321 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4217321 4217321 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known nonsense c.2164 p.Q722* 0.973 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 14 18 56.25 42 0 0.00 ANKRD24 170961 genome.wustl.edu 37 19 4222693 4222693 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 4222693 4222693 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known silent c.3198 p.F1066 0.809 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 15 8 34.78 62 0 0.00 ANKRD24 170961 genome.wustl.edu 37 19 4222784 4222784 + Nonsense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 4222784 4222784 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known nonsense c.3289 p.Q1097* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 15 8 34.78 19 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27301817 27301817 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 27301817 27301817 C G SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4995 p.L1665F 0.010 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 103 40 27.78 154 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27301906 27301906 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 27301906 27301906 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4906 p.D1636N 0.000 pfam_DUF3496 pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 29 20 40.82 66 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27302020 27302020 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 27302020 27302020 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4792 p.E1598K 0.170 pfam_DUF3496 pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 27 14 34.15 38 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27322178 27322178 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 27322178 27322178 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known silent c.3831 p.K1277 0.889 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 70 19 21.35 55 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27335121 27335121 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 27335121 27335121 G A SNP ANKRD26 ENST00000490015 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD26 HGNC ENSG00000107890 44 5 10.20 28 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27335392 27335392 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27335392 27335392 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known silent c.1923 p.S641 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 24 13 35.14 83 0 0.00 ANKRD26 22852 genome.wustl.edu 37 10 27382726 27382726 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 27382726 27382726 G A SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.245 p.T82M 0.996 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 24 23 48.94 74 0 0.00 ANKRD26P1 124149 genome.wustl.edu 37 16 46509709 46509709 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 46509709 46509709 G A SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.270 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 15 25 62.50 52 0 0.00 ANKRD26P1 124149 genome.wustl.edu 37 16 46513217 46513217 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 46513217 46513217 C A SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 27 32 54.24 96 0 0.00 ANKRD26P1 124149 genome.wustl.edu 37 16 46534343 46534343 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 46534343 46534343 C G SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 12 6 33.33 20 0 0.00 ANKRD27 84079 genome.wustl.edu 37 19 33096837 33096837 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 33096837 33096837 C T SNP ANKRD27 ENST00000306065 human ensembl 70_37 -1 known silent c.2397 p.S799 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 74 18 19.57 78 0 0.00 ANKRD27 84079 genome.wustl.edu 37 19 33135369 33135369 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 33135369 33135369 G A SNP ANKRD27 ENST00000588700 human ensembl 70_37 -1 known missense c.230 p.P77L 0.412 NULL NULL - no_errors ANKRD27 HGNC ENSG00000105186 15 3 16.67 21 0 0.00 ANKRD27 84079 genome.wustl.edu 37 19 33149898 33149898 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 33149898 33149898 G A SNP ANKRD27 ENST00000306065 human ensembl 70_37 -1 known silent c.24 p.L8 1.000 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 20 9 31.03 29 0 0.00 ANKRD28 23243 genome.wustl.edu 37 3 15712019 15712019 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 15712019 15712019 C T SNP ANKRD28 ENST00000383777 human ensembl 70_37 -1 known missense c.3019 p.D1007N 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 17 17 50.00 31 0 0.00 ANKRD28 23243 genome.wustl.edu 37 3 15717536 15717536 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 15717536 15717536 G A SNP ANKRD28 ENST00000498713 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ENSG00000206560 26 7 21.21 25 0 0.00 ANKRD28 23243 genome.wustl.edu 37 3 15727769 15727769 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 15727769 15727769 C G SNP ANKRD28 ENST00000383777 human ensembl 70_37 -1 known missense c.2020 p.E674Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 52 43 45.26 69 0 0.00 ANKRD28 23243 genome.wustl.edu 37 3 15838150 15838151 + RNA INS - - TT TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 15838150 15838151 - TT INS ANKRD28 ENST00000461696 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.428 - - - no_errors ANKRD28 HGNC ENSG00000206560 6 6 50.00 11 0 0.00 ANKRD28 23243 genome.wustl.edu 37 3 15838150 15838151 + RNA INS - - TT TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 15838150 15838151 - TT INS ANKRD28 ENST00000461696 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.428 - - - no_errors ANKRD28 HGNC ENSG00000206560 14 3 17.65 9 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37431083 37431083 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 37431083 37431083 G C SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.1090 p.E364Q 0.011 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 67 15 18.29 78 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37438770 37438770 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 37438770 37438770 G A SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known silent c.1470 p.L490 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 81 33 28.95 74 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37442509 37442509 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 37442509 37442509 G A SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.1549 p.E517K 0.009 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 152 46 23.23 194 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37508313 37508313 + Missense_Mutation SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 37508313 37508313 A T SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.3505 p.I1169F 0.387 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 38 26 40.62 40 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37508313 37508313 + Missense_Mutation SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 37508313 37508313 A T SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.3505 p.I1169F 0.387 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 65 37 36.27 98 0 0.00 ANKRD30A 91074 genome.wustl.edu 37 10 37508593 37508594 + Frame_Shift_Ins INS - - AG TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 37508593 37508594 - AG INS ANKRD30A ENST00000361713 human ensembl 70_37 +1 known frame_shift_ins c.3785_3786 p.L1263fs 0.003:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 3 2 40.00 34 0 0.00 ANKRD30B 374860 genome.wustl.edu 37 18 14778038 14778038 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 14778038 14778038 C G SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.1384 p.Q462E 0.019 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 35 9 20.45 34 0 0.00 ANKRD30B 374860 genome.wustl.edu 37 18 14799120 14799120 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 14799120 14799120 C T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2050 p.L684F 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 78 37 32.17 147 0 0.00 ANKRD30B 374860 genome.wustl.edu 37 18 14822628 14822628 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14822628 14822628 C T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2338 p.L780F 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 36 6 14.29 42 0 0.00 ANKRD30B 374860 genome.wustl.edu 37 18 14828278 14828278 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 14828278 14828278 G T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2388 p.E796D 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 10 6 37.50 27 0 0.00 ANKRD30B 374860 genome.wustl.edu 37 18 14851937 14851937 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 14851937 14851937 G A SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.3637 p.G1213R 0.991 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 34 29 46.03 61 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 132905499 132905499 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132905499 132905499 G A SNP ANKRD30BL ENST00000465868 human ensembl 70_37 -1 known rna NULL NULL 0.357 - - - no_errors ANKRD30BL HGNC ENSG00000163046 5 4 44.44 11 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 132911192 132911192 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 132911192 132911192 G A SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.690 p.I230 0.046 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 88 63 41.72 124 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 132911228 132911228 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 132911228 132911228 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.654 p.E218 0.005 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 56 8 12.50 74 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 132914714 132914714 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 132914714 132914714 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.339 p.L113 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 63 11 14.86 118 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 132919260 132919260 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 132919260 132919260 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known missense c.19 p.A7T 0.407 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 59 12 16.90 58 0 0.00 ANKRD30BL 554226 genome.wustl.edu 37 2 133015216 133015216 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 133015216 133015216 C G SNP ANKRD30BL ENST00000470729 human ensembl 70_37 -1 known rna NULL NULL 0.884 - - - no_errors ANKRD30BL HGNC ENSG00000163046 6 4 40.00 9 0 0.00 ANKRD30BP2 149992 genome.wustl.edu 37 21 14418615 14418615 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 14418615 14418615 C T SNP ANKRD30BP2 ENST00000507941 human ensembl 70_37 +1 known rna NULL NULL 0.093 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 218 44 16.79 286 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74413999 74413999 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 74413999 74413999 C G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3829 p.E1277Q 0.869 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 58 16 21.62 63 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74414077 74414077 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 74414077 74414077 C G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3751 p.D1251H 0.816 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 48 9 15.79 61 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74433799 74433799 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 74433799 74433799 G C SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3587 p.S1196C 0.091 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 6 35 85.37 41 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74442211 74442211 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 74442211 74442211 A G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3025 p.S1009P 0.044 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 10 3 23.08 34 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74491716 74491718 + In_Frame_Del DEL TCA TCA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 74491716 74491718 TCA - DEL ANKRD31 ENST00000274361 human ensembl 70_37 -1 known in_frame_del c.757_755 p.M252in_frame_del 0.000:0.000:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 43 5 10.42 77 0 0.00 ANKRD31 256006 genome.wustl.edu 37 5 74491918 74491918 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 74491918 74491918 C T SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known silent c.555 p.E185 0.354 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 33 4 10.81 38 0 0.00 ANKRD32 84250 genome.wustl.edu 37 5 94006606 94006606 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 94006606 94006606 G C SNP ANKRD32 ENST00000265140 human ensembl 70_37 +1 known missense c.1720 p.E574Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 19 18 48.65 54 0 0.00 ANKRD32 84250 genome.wustl.edu 37 5 94027876 94027876 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 94027876 94027876 C T SNP ANKRD32 ENST00000265140 human ensembl 70_37 +1 known silent c.2610 p.L870 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 40 19 32.20 34 0 0.00 ANKRD33 341405 genome.wustl.edu 37 12 52284476 52284476 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 52284476 52284476 G A SNP ANKRD33 ENST00000340970 human ensembl 70_37 +1 known missense c.371 p.R124Q 0.872 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 7 14 66.67 29 0 0.00 ANKRD34A 284615 genome.wustl.edu 37 1 145473666 145473666 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 145473666 145473666 C T SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known missense c.338 p.S113L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 12 10 45.45 29 0 0.00 ANKRD34A 284615 genome.wustl.edu 37 1 145473676 145473676 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 145473676 145473676 C A SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known silent c.348 p.V116 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 13 12 48.00 28 0 0.00 ANKRD34A 284615 genome.wustl.edu 37 1 145473903 145473903 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 145473903 145473903 C G SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known missense c.575 p.A192G 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 51 9 15.00 64 0 0.00 ANKRD34A 284615 genome.wustl.edu 37 1 145474435 145474435 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 145474435 145474435 G A SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known silent c.1107 p.L369 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 18 12 40.00 33 0 0.00 ANKRD34B 340120 genome.wustl.edu 37 5 79854475 79854475 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79854475 79854475 T C SNP ANKRD34B ENST00000338682 human ensembl 70_37 -1 known missense c.1364 p.N455S 0.945 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 26 3 10.34 45 0 0.00 ANKRD34C 390616 genome.wustl.edu 37 15 79585660 79585660 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79585660 79585660 G T SNP ANKRD34C ENST00000421388 human ensembl 70_37 +1 known nonsense c.34 p.G12* 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 25 12 32.43 59 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97847353 97847353 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 97847353 97847353 C G SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.1754 p.P585R 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 39 12 23.53 66 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97860487 97860487 + Missense_Mutation SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 97860487 97860487 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.2474 p.L825S 0.064 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 18 8 30.77 12 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97866212 97866212 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 97866212 97866212 C G SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.2807 p.S936C 0.052 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 208 33 13.69 321 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97875577 97875577 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 97875577 97875577 G C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3335 p.R1112T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 51 11 17.74 276 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 8 12 60.00 11 0 0.00 ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 179 28 13.53 169 1 0.59 ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 33 5 13.16 117 1 0.85 ANKRD36B 57730 genome.wustl.edu 37 2 98206253 98206253 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 98206253 98206253 G A SNP ANKRD36B ENST00000419390 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors ANKRD36B HGNC ENSG00000196912 10 5 33.33 42 0 0.00 ANKRD36BP1 84832 genome.wustl.edu 37 1 168216235 168216235 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 168216235 168216235 C G SNP ANKRD36BP1 ENST00000358576 human ensembl 70_37 -1 known missense c.49 p.E17Q 0.959 NULL NULL - no_errors ANKRD36BP1 HGNC ENSG00000214262 31 10 24.39 62 0 0.00 ANKRD36BP2 645784 genome.wustl.edu 37 2 89065610 89065610 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 89065610 89065610 C T SNP ANKRD36BP2 ENST00000393515 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 65 14 17.72 86 0 0.00 ANKRD36BP2 645784 genome.wustl.edu 37 2 89100923 89100924 + RNA INS - - G TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 2 89100923 89100924 - G INS ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.049:0.030 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 22 3 12.00 39 0 0.00 ANKRD36BP2 645784 genome.wustl.edu 37 2 89102238 89102238 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 89102238 89102238 G C SNP ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.095 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 120 45 27.27 174 0 0.00 ANKRD36BP2 645784 genome.wustl.edu 37 2 89102373 89102373 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 89102373 89102373 G A SNP ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 147 51 25.76 214 0 0.00 ANKRD36BP2 645784 genome.wustl.edu 37 2 89103871 89103871 + RNA DEL T T - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 89103871 89103871 T - DEL ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 54 15 21.74 81 0 0.00 ANKRD36C 400986 genome.wustl.edu 37 2 96525724 96525724 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96525724 96525724 G A SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known nonsense c.3781 p.R1261* 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 115 57 33.14 285 1 0.35 ANKRD36C 400986 genome.wustl.edu 37 2 96549927 96549927 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 2 96549927 96549927 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.3259 p.G1087R 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 53 6 10.17 10 0 0.00 ANKRD36C 400986 genome.wustl.edu 37 2 96549981 96549981 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 96549981 96549981 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.3205 p.E1069K 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 87 19 17.92 120 0 0.00 ANKRD36C 400986 genome.wustl.edu 37 2 96583646 96583646 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96583646 96583646 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known silent c.2304 p.S768 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 32 10 23.81 68 0 0.00 ANKRD36C 400986 genome.wustl.edu 37 2 96601243 96601243 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 96601243 96601243 T C SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.1694 p.K565R 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 82 24 22.64 94 0 0.00 ANKRD36C 400986 genome.wustl.edu 37 2 96652917 96652917 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96652917 96652917 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.235 p.E79K 0.466 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 38 10 20.83 53 0 0.00 ANKRD37 353322 genome.wustl.edu 37 4 186320755 186320755 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 186320755 186320755 G A SNP ANKRD37 ENST00000335174 human ensembl 70_37 +1 known missense c.304 p.D102N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD37 HGNC ENSG00000186352 22 21 48.84 76 0 0.00 ANKRD40 91369 genome.wustl.edu 37 17 48784890 48784890 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 48784890 48784890 G C SNP ANKRD40 ENST00000285243 human ensembl 70_37 -1 known silent c.126 p.V42 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 25 9 26.47 84 0 0.00 ANKRD42 338699 genome.wustl.edu 37 11 82921454 82921454 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 82921454 82921454 G T SNP ANKRD42 ENST00000393392 human ensembl 70_37 +1 known missense c.359 p.S120I 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 26 4 13.33 65 0 0.00 ANKRD42 338699 genome.wustl.edu 37 11 82938887 82938887 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 82938887 82938887 G A SNP ANKRD42 ENST00000393392 human ensembl 70_37 +1 known missense c.802 p.D268N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 16 14 46.67 46 0 0.00 ANKRD44 91526 genome.wustl.edu 37 2 197870440 197870440 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 197870440 197870440 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known silent c.2250 p.P750 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 34 7 17.07 34 0 0.00 ANKRD44 91526 genome.wustl.edu 37 2 197873681 197873681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197873681 197873681 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.1924 p.D642N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 21 13 38.24 51 0 0.00 ANKRD44 91526 genome.wustl.edu 37 2 197943531 197943531 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 197943531 197943531 C G SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.1471 p.E491Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 39 21 35.00 31 0 0.00 ANKRD44 91526 genome.wustl.edu 37 2 197964597 197964597 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 197964597 197964597 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.968 p.R323K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 31 12 27.91 78 0 0.00 ANKRD44 91526 genome.wustl.edu 37 2 197990563 197990563 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 197990563 197990563 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.385 p.E129K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 130 15 10.34 112 0 0.00 ANKRD49 54851 genome.wustl.edu 37 11 94230225 94230225 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 94230225 94230225 G A SNP ANKRD49 ENST00000534911 human ensembl 70_37 +1 known silent c.366 p.V122 0.001 NULL NULL - no_errors ANKRD49 HGNC ENSG00000168876 31 18 36.73 74 0 0.00 ANKRD49 54851 genome.wustl.edu 37 11 94230225 94230225 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 94230225 94230225 G A SNP ANKRD49 ENST00000534911 human ensembl 70_37 +1 known silent c.366 p.V122 0.001 NULL NULL - no_errors ANKRD49 HGNC ENSG00000168876 32 14 30.43 32 0 0.00 ANKEF1 63926 genome.wustl.edu 37 20 10032317 10032317 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10032317 10032317 C T SNP ANKRD5 ENST00000378380 human ensembl 70_37 +1 known silent c.1650 p.N550 0.332 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt - no_errors ANKRD5 HGNC ENSG00000132623 12 3 20.00 34 0 0.00 ANKRD50 57182 genome.wustl.edu 37 4 125590986 125590986 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 4 125590986 125590986 G A SNP ANKRD50 ENST00000504087 human ensembl 70_37 -1 known missense c.3446 p.S1149L 0.975 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 45 13 22.41 76 0 0.00 ANKRD50 57182 genome.wustl.edu 37 4 125591339 125591339 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 125591339 125591339 C G SNP ANKRD50 ENST00000504087 human ensembl 70_37 -1 known silent c.3093 p.L1031 0.987 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 30 19 38.78 51 0 0.00 ANKRD52 283373 genome.wustl.edu 37 12 56638887 56638887 + Missense_Mutation SNP A A G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 56638887 56638887 A G SNP ANKRD52 ENST00000267116 human ensembl 70_37 -1 known missense c.2492 p.V831A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 139 45 24.46 207 0 0.00 ANKRD52 283373 genome.wustl.edu 37 12 56641847 56641847 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 56641847 56641847 G A SNP ANKRD52 ENST00000267116 human ensembl 70_37 -1 known silent c.1938 p.I646 1.000 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 14 12 46.15 39 0 0.00 ANKRD53 79998 genome.wustl.edu 37 2 71209788 71209788 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 71209788 71209788 G A SNP ANKRD53 ENST00000272421 human ensembl 70_37 +1 known silent c.864 p.Q288 0.602 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD53 HGNC ENSG00000144031 40 12 23.08 30 0 0.00 ANKRD53 79998 genome.wustl.edu 37 2 71209788 71209788 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 71209788 71209788 G A SNP ANKRD53 ENST00000272421 human ensembl 70_37 +1 known silent c.864 p.Q288 0.602 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD53 HGNC ENSG00000144031 65 18 21.43 62 0 0.00 ANKRD54 129138 genome.wustl.edu 37 22 38227784 38227784 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38227784 38227784 G C SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.337 - - - no_errors ANKRD54 HGNC ENSG00000100124 41 17 29.31 15 0 0.00 ANKRD54 129138 genome.wustl.edu 37 22 38227805 38227805 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 38227805 38227805 C T SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC ENSG00000100124 25 10 28.57 34 0 0.00 ANKRD54 129138 genome.wustl.edu 37 22 38228006 38228006 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38228006 38228006 G C SNP ANKRD54 ENST00000215941 human ensembl 70_37 -1 known missense c.847 p.L283V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD54 HGNC ENSG00000100124 60 28 31.82 38 0 0.00 ANKRD54 129138 genome.wustl.edu 37 22 38229154 38229154 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 38229154 38229154 G T SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC ENSG00000100124 15 7 31.82 18 0 0.00 ANKRD55 79722 genome.wustl.edu 37 5 55407482 55407482 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 55407482 55407482 G A SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known missense c.1093 p.P365S 0.053 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 118 22 15.71 170 0 0.00 ANKRD55 79722 genome.wustl.edu 37 5 55466561 55466561 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 55466561 55466561 G A SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known missense c.382 p.R128C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 22 4 15.38 32 0 0.00 ANKRD55 79722 genome.wustl.edu 37 5 55472045 55472045 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 55472045 55472045 C G SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known missense c.246 p.K82N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 31 23 42.59 60 0 0.00 ANKRD6 22881 genome.wustl.edu 37 6 90276740 90276740 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 90276740 90276740 C G SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.45 p.L15 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 38 14 26.92 54 0 0.00 ANKRD6 22881 genome.wustl.edu 37 6 90312810 90312810 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 90312810 90312810 C T SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.282 p.L94 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 32 18 36.00 31 0 0.00 ANKRD6 22881 genome.wustl.edu 37 6 90312810 90312810 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 90312810 90312810 C T SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.282 p.L94 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 8 4 33.33 19 0 0.00 ANKRD62 342850 genome.wustl.edu 37 18 12094118 12094118 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 12094118 12094118 C T SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known silent c.60 p.V20 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 23 13 36.11 45 0 0.00 ANKRD62 342850 genome.wustl.edu 37 18 12122443 12122443 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 12122443 12122443 C G SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known missense c.1340 p.S447C 0.242 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 48 18 27.27 73 0 0.00 ANKRD62 342850 genome.wustl.edu 37 18 12125918 12125918 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 12125918 12125918 C T SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known nonsense c.2056 p.Q686* 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 96 29 23.20 87 0 0.00 ANKRD62P1-PARP4P3 23783 genome.wustl.edu 37 22 17156394 17156394 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17156394 17156394 G C SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 70_37 -1 known rna NULL NULL 0.907 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 51 23 31.08 51 0 0.00 ANKRD62P1-PARP4P3 23783 genome.wustl.edu 37 22 17160241 17160241 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 17160241 17160241 G C SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 12 30 71.43 36 0 0.00 ANKS1A 23294 genome.wustl.edu 37 6 34951182 34951182 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 34951182 34951182 C G SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.992 p.S331C 0.757 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 71 68 48.92 150 0 0.00 ANKS1A 23294 genome.wustl.edu 37 6 34985727 34985727 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34985727 34985727 C T SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.1901 p.S634L 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 349 99 22.10 526 0 0.00 ANKS1A 23294 genome.wustl.edu 37 6 35021879 35021879 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35021879 35021879 G T SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known nonsense c.2014 p.E672* 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 58 30 34.09 92 0 0.00 ANKS1A 23294 genome.wustl.edu 37 6 35046359 35046359 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35046359 35046359 G A SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.2209 p.D737N 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 156 47 23.15 218 0 0.00 ANKS1B 56899 genome.wustl.edu 37 12 100048924 100048924 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 12 100048924 100048924 G A SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.1193 p.T398M 0.717 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 64 49 43.36 103 0 0.00 ANKS1B 56899 genome.wustl.edu 37 12 99128516 99128516 + RNA SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 99128516 99128516 A T SNP ANKS1B ENST00000546541 human ensembl 70_37 -1 known rna NULL NULL 0.503 - - - no_errors ANKS1B HGNC ENSG00000185046 90 14 13.46 66 0 0.00 ANKS1B 56899 genome.wustl.edu 37 12 99166870 99166870 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 99166870 99166870 C G SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.3454 p.D1152H 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 88 50 36.23 137 0 0.00 ANKS1B 56899 genome.wustl.edu 37 12 99478734 99478734 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 99478734 99478734 C G SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.2594 p.R865T 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 65 14 17.72 83 0 0.00 ANKS3 124401 genome.wustl.edu 37 16 4750748 4750748 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4750748 4750748 G C SNP ANKS3 ENST00000450067 human ensembl 70_37 -1 known missense c.889 p.P297A 0.003 NULL NULL - no_errors ANKS3 HGNC ENSG00000168096 62 25 28.74 39 0 0.00 ANKS6 203286 genome.wustl.edu 37 9 101513319 101513319 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 101513319 101513319 C T SNP ANKS6 ENST00000375018 human ensembl 70_37 -1 known missense c.2389 p.E797K 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 29 15 34.09 55 0 0.00 ANKS6 203286 genome.wustl.edu 37 9 101546366 101546366 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 101546366 101546366 C T SNP ANKS6 ENST00000375018 human ensembl 70_37 -1 known silent c.981 p.A327 0.206 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 48 22 31.43 71 0 0.00 ANKUB1 389161 genome.wustl.edu 37 3 149485593 149485593 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 149485593 149485593 G T SNP ANKUB1 ENST00000446160 human ensembl 70_37 -1 known missense c.856 p.H286N 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ENSG00000206199 26 4 13.33 60 0 0.00 ANKUB1 389161 genome.wustl.edu 37 3 149485802 149485802 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 149485802 149485802 G A SNP ANKUB1 ENST00000446160 human ensembl 70_37 -1 known missense c.647 p.A216V 0.022 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ENSG00000206199 47 8 14.55 51 0 0.00 ANLN 54443 genome.wustl.edu 37 7 36456741 36456741 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 36456741 36456741 T A SNP ANLN ENST00000265748 human ensembl 70_37 +1 known missense c.1575 p.F525L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 28 16 36.36 54 0 0.00 ANO1 55107 genome.wustl.edu 37 11 69962588 69962588 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 69962588 69962588 G A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.880 p.E294K 0.988 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 27 13 32.50 48 0 0.00 ANO1 55107 genome.wustl.edu 37 11 69999169 69999169 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 69999169 69999169 C A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.1360 p.P454T 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 33 27 45.00 54 0 0.00 ANO1 55107 genome.wustl.edu 37 11 70028677 70028677 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 70028677 70028677 G A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.2473 p.G825R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 32 27 45.00 61 0 0.00 ANO1 55107 genome.wustl.edu 37 11 70028709 70028709 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 70028709 70028709 C G SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known silent c.2505 p.L835 0.962 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 52 11 17.46 35 0 0.00 ANO10 55129 genome.wustl.edu 37 3 43621890 43621890 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 43621890 43621890 C G SNP ANO10 ENST00000292246 human ensembl 70_37 -1 known missense c.547 p.E183Q 0.387 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 15 11 42.31 22 0 0.00 ANO10 55129 genome.wustl.edu 37 3 43640123 43640123 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 43640123 43640123 G C SNP ANO10 ENST00000292246 human ensembl 70_37 -1 known missense c.373 p.Q125E 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 30 22 42.31 75 0 0.00 ANO2 57101 genome.wustl.edu 37 12 5672735 5672735 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 5672735 5672735 C G SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known splice_site c.2731-1 e27-1 1.000 - - - no_errors ANO2 HGNC ENSG00000047617 7 13 65.00 28 0 0.00 ANO2 57101 genome.wustl.edu 37 12 5685041 5685041 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 12 5685041 5685041 C T SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known silent c.2583 p.Q861 0.090 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 35 11 23.91 73 0 0.00 ANO2 57101 genome.wustl.edu 37 12 5685071 5685071 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 5685071 5685071 G C SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known missense c.2553 p.F851L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 58 16 21.62 40 0 0.00 ANO2 57101 genome.wustl.edu 37 12 5687152 5687152 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 5687152 5687152 G C SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known missense c.2411 p.S804C 0.997 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 104 14 11.86 111 0 0.00 ANO2 57101 genome.wustl.edu 37 12 5908678 5908678 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 5908678 5908678 G A SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known silent c.1041 p.L347 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 22 4 15.38 28 0 0.00 ANO3 63982 genome.wustl.edu 37 11 26484627 26484627 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 26484627 26484627 G C SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.364 p.D122H 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 40 15 27.27 60 0 0.00 ANO3 63982 genome.wustl.edu 37 11 26681913 26681913 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 26681913 26681913 G A SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.2868 p.M956I 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 36 14 28.00 129 0 0.00 ANO3 63982 genome.wustl.edu 37 11 26681913 26681913 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 26681913 26681913 G T SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.2868 p.M956I 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 18 4 18.18 27 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101365090 101365090 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 101365090 101365090 C G SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.463 p.L155V 0.924 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 48 23 32.39 63 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101437344 101437344 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 101437344 101437344 C T SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known silent c.1182 p.I394 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 56 30 34.88 63 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101480535 101480535 + Missense_Mutation SNP A A G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 101480535 101480535 A G SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.1634 p.N545S 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 26 70 72.16 106 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101491724 101491724 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 101491724 101491724 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known splice_site c.2006+1 e20+1 1.000 - - - no_errors ANO4 HGNC ENSG00000151572 18 3 14.29 62 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101493406 101493406 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 101493406 101493406 C A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2057 p.P686H 0.084 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 10 4 26.67 64 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101493441 101493441 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 101493441 101493441 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2092 p.D698N 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 17 7 29.17 38 0 0.00 ANO4 121601 genome.wustl.edu 37 12 101520733 101520733 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 101520733 101520733 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2753 p.R918K 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 32 6 15.79 35 0 0.00 ANO5 203859 genome.wustl.edu 37 11 22257799 22257799 + Missense_Mutation SNP T T C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 22257799 22257799 T C SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known missense c.739 p.S247P 0.014 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 44 18 29.03 49 0 0.00 ANO5 203859 genome.wustl.edu 37 11 22294416 22294416 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 22294416 22294416 C T SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known nonsense c.2116 p.R706* 0.989 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 40 27 40.30 92 0 0.00 ANO5 203859 genome.wustl.edu 37 11 22296234 22296234 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 22296234 22296234 G A SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known silent c.2355 p.L785 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 38 16 29.63 53 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45725117 45725117 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 45725117 45725117 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.190 p.D64N 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 35 7 16.67 14 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45725130 45725130 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 45725130 45725130 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.203 p.R68K 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 32 11 25.58 13 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45725135 45725135 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 45725135 45725135 G C SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.208 p.D70H 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 25 18 41.86 38 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45751137 45751137 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 12 45751137 45751137 C T SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.928 p.L310F 0.011 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 76 9 10.59 61 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45833560 45833560 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 45833560 45833560 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.2629 p.E877K 0.009 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 37 11 22.92 48 0 0.00 ANO6 196527 genome.wustl.edu 37 12 45833645 45833645 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 45833645 45833645 T G SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.2714 p.F905C 0.003 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 41 36 46.75 74 0 0.00 ANO7 50636 genome.wustl.edu 37 2 242148707 242148707 + Missense_Mutation SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 2 242148707 242148707 G A SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1247 p.R416Q 0.957 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 41 10 19.61 32 0 0.00 ANO7 50636 genome.wustl.edu 37 2 242149012 242149012 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 242149012 242149012 C T SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1483 p.R495C 0.017 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 52 15 22.39 62 0 0.00 ANO7 50636 genome.wustl.edu 37 2 242149031 242149031 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242149031 242149031 C T SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1502 p.S501F 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 6 23 79.31 63 0 0.00 ANO7 50636 genome.wustl.edu 37 2 242149950 242149950 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 242149950 242149950 T A SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1688 p.I563N 0.992 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 24 5 17.24 71 0 0.00 ANO8 57719 genome.wustl.edu 37 19 17435963 17435963 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 17435963 17435963 C T SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.2894 p.R965H 1.000 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 83 26 23.85 129 0 0.00 ANO8 57719 genome.wustl.edu 37 19 17441687 17441687 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17441687 17441687 T C SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.943 p.T315A 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 18 8 30.77 34 0 0.00 ANO8 57719 genome.wustl.edu 37 19 17441716 17441716 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 17441716 17441716 C G SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.914 p.R305T 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 46 21 31.34 41 0 0.00 ANO8 57719 genome.wustl.edu 37 19 17444512 17444512 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 17444512 17444512 C T SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known silent c.204 p.L68 0.982 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 32 6 15.79 29 0 0.00 ANO9 338440 genome.wustl.edu 37 11 430149 430149 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 430149 430149 G A SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known silent c.705 p.L235 0.988 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 24 9 25.71 44 0 0.00 ANO9 338440 genome.wustl.edu 37 11 431747 431747 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 431747 431747 C G SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known missense c.486 p.K162N 0.000 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 14 18 56.25 47 0 0.00 ANO9 338440 genome.wustl.edu 37 11 433372 433372 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 433372 433372 C T SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known missense c.292 p.E98K 0.015 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 81 11 11.96 99 0 0.00 ANP32B 10541 genome.wustl.edu 37 9 100760874 100760874 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 100760874 100760874 G C SNP ANP32B ENST00000339399 human ensembl 70_37 +1 known missense c.241 p.D81H 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 58 49 45.79 83 0 0.00 ANP32B 10541 genome.wustl.edu 37 9 100777654 100777654 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 100777654 100777654 G C SNP ANP32B ENST00000339399 human ensembl 70_37 +1 known missense c.697 p.E233Q 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 32 6 15.79 25 0 0.00 ANP32D 23519 genome.wustl.edu 37 12 48866842 48866842 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 48866842 48866842 G A SNP ANP32D ENST00000266594 human ensembl 70_37 +1 known silent c.395 p.*132 1.000 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 31 26 45.61 40 0 0.00 ANP32E 81611 genome.wustl.edu 37 1 150203003 150203003 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 150203003 150203003 G A SNP ANP32E ENST00000314136 human ensembl 70_37 -1 known missense c.230 p.S77F 1.000 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 69 24 25.81 131 0 0.00 ANPEP 290 genome.wustl.edu 37 15 90347826 90347826 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 90347826 90347826 C T SNP ANPEP ENST00000300060 human ensembl 70_37 -1 known missense c.920 p.S307N 0.010 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 97 28 22.40 139 1 0.71 ANPEP 290 genome.wustl.edu 37 15 90349434 90349434 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 90349434 90349434 G A SNP ANPEP ENST00000300060 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 66 19 22.35 73 0 0.00 ANTXR1 84168 genome.wustl.edu 37 2 69304566 69304566 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 69304566 69304566 T A SNP ANTXR1 ENST00000303714 human ensembl 70_37 +1 known missense c.588 p.D196E 0.663 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 41 21 33.87 55 0 0.00 ANTXR1 84168 genome.wustl.edu 37 2 69304567 69304567 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 69304567 69304567 C T SNP ANTXR1 ENST00000303714 human ensembl 70_37 +1 known missense c.589 p.H197Y 0.950 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 41 22 34.92 54 0 0.00 ANTXR2 118429 genome.wustl.edu 37 4 80828578 80828578 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 80828578 80828578 C G SNP ANTXR2 ENST00000482406 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANTXR2 HGNC ENSG00000163297 27 7 20.59 43 0 0.00 ANTXRL 195977 genome.wustl.edu 37 10 47668656 47668656 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 47668656 47668656 G A SNP ANTXRL ENST00000537271 human ensembl 70_37 +1 known silent c.600 p.R200 0.053 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ENSG00000198250 35 8 18.18 51 0 0.00 ANXA1 301 genome.wustl.edu 37 9 75783758 75783758 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 75783758 75783758 G A SNP ANXA1 ENST00000491192 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ANXA1 HGNC ENSG00000135046 6 5 45.45 8 0 0.00 ANXA1 301 genome.wustl.edu 37 9 75783796 75783797 + RNA INS - - GTGT TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 9 75783796 75783797 - GTGT INS ANXA1 ENST00000491192 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors ANXA1 HGNC ENSG00000135046 21 3 12.50 24 0 0.00 ANXA11 311 genome.wustl.edu 37 10 81923365 81923365 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 81923365 81923365 G C SNP ANXA11 ENST00000265447 human ensembl 70_37 -1 known missense c.954 p.F318L 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 45 11 19.64 51 0 0.00 ANXA11 311 genome.wustl.edu 37 10 81923864 81923864 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81923864 81923864 G C SNP ANXA11 ENST00000265447 human ensembl 70_37 -1 known missense c.894 p.I298M 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 24 18 42.86 57 0 0.00 ANXA11 311 genome.wustl.edu 37 10 81926598 81926598 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81926598 81926598 G A SNP ANXA11 ENST00000481805 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ANXA11 HGNC ENSG00000122359 47 31 39.74 88 0 0.00 ANXA13 312 genome.wustl.edu 37 8 124696865 124696865 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 124696865 124696865 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known silent c.939 p.V313 0.188 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 50 10 16.67 67 0 0.00 ANXA13 312 genome.wustl.edu 37 8 124707747 124707747 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 124707747 124707747 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known silent c.589 p.L197 0.994 superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 15 4 21.05 19 0 0.00 ANXA13 312 genome.wustl.edu 37 8 124707800 124707800 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 124707800 124707800 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known missense c.536 p.S179L 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 28 13 31.71 37 0 0.00 ANXA2 302 genome.wustl.edu 37 15 60674634 60674634 + Missense_Mutation SNP T T C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 15 60674634 60674634 T C SNP ANXA2 ENST00000332680 human ensembl 70_37 -1 known missense c.109 p.T37A 0.948 prints_AnnexinII pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 19 5 20.83 37 0 0.00 ANXA2R 389289 genome.wustl.edu 37 5 43039952 43039952 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 43039952 43039952 C T SNP ANXA2R ENST00000314890 human ensembl 70_37 -1 known missense c.197 p.G66E 0.000 NULL NULL - no_errors ANXA2R HGNC ENSG00000177721 39 7 15.22 30 0 0.00 ANXA3 306 genome.wustl.edu 37 4 79475635 79475635 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 79475635 79475635 C G SNP ANXA3 ENST00000264908 human ensembl 70_37 +1 known missense c.8 p.S3C 0.315 NULL pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 26 27 50.94 44 0 0.00 ANXA3 306 genome.wustl.edu 37 4 79500189 79500189 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 79500189 79500189 G A SNP ANXA3 ENST00000264908 human ensembl 70_37 +1 known missense c.112 p.E38K 0.998 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 18 12 40.00 27 0 0.00 ANXA5 308 genome.wustl.edu 37 4 122605888 122605888 + Nonsense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 122605888 122605888 G A SNP ANXA5 ENST00000296511 human ensembl 70_37 -1 known nonsense c.133 p.R45* 0.958 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 20 8 28.57 40 0 0.00 ANXA6 309 genome.wustl.edu 37 5 150497334 150497334 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 150497334 150497334 G A SNP ANXA6 ENST00000354546 human ensembl 70_37 -1 known silent c.1503 p.L501 0.566 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 12 4 25.00 19 0 0.00 ANXA7 310 genome.wustl.edu 37 10 75135834 75135834 + RNA DEL A A - TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 10 75135834 75135834 A - DEL ANXA7 ENST00000463788 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ANXA7 HGNC ENSG00000138279 7 2 22.22 9 0 0.00 ANXA9 8416 genome.wustl.edu 37 1 150958852 150958852 + Silent SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 150958852 150958852 C A SNP ANXA9 ENST00000368947 human ensembl 70_37 +1 known silent c.513 p.T171 0.079 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 28 6 17.65 54 0 0.00 AOAH 313 genome.wustl.edu 37 7 36579973 36579973 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 36579973 36579973 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 65 44 40.00 119 0 0.00 AOAH 313 genome.wustl.edu 37 7 36616224 36616224 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 36616224 36616224 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.977 p.R326T 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 109 68 38.42 224 0 0.00 AOAH 313 genome.wustl.edu 37 7 36616224 36616224 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 36616224 36616224 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.977 p.R326T 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 29 5 14.71 36 0 0.00 AOAH 313 genome.wustl.edu 37 7 36729774 36729774 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 36729774 36729774 C T SNP AOAH ENST00000414637 human ensembl 70_37 -1 known missense c.139 p.E47K 0.000 NULL NULL - no_errors AOAH HGNC ENSG00000136250 23 12 34.29 26 0 0.00 AOC2 314 genome.wustl.edu 37 17 41001113 41001113 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41001113 41001113 C G SNP AOC2 ENST00000253799 human ensembl 70_37 +1 known missense c.1599 p.N533K 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 55 23 29.11 82 0 0.00 AOC2 314 genome.wustl.edu 37 17 41001224 41001224 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 41001224 41001224 G C SNP AOC2 ENST00000253799 human ensembl 70_37 +1 known silent c.1710 p.L570 0.798 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 60 35 36.84 89 0 0.00 AOC3 8639 genome.wustl.edu 37 17 41004143 41004143 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41004143 41004143 C G SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known missense c.783 p.I261M 0.950 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 64 18 21.95 48 0 0.00 AOC3 8639 genome.wustl.edu 37 17 41004444 41004444 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 41004444 41004444 G C SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known missense c.1084 p.E362Q 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 62 21 25.30 76 0 0.00 AOC3 8639 genome.wustl.edu 37 17 41008322 41008322 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 41008322 41008322 C G SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known missense c.2047 p.L683V 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 116 46 28.40 172 0 0.00 AOC4 90586 genome.wustl.edu 37 17 41019397 41019397 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41019397 41019397 G A SNP AOC4 ENST00000585538 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4 Clone_based_vega_gene ENSG00000260105 34 22 39.29 46 0 0.00 AOC4 90586 genome.wustl.edu 37 17 41019795 41019795 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 41019795 41019795 G A SNP AOC4 ENST00000562301 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors AOC4 Clone_based_vega_gene ENSG00000260105 24 13 35.14 46 0 0.00 AOC4 90586 genome.wustl.edu 37 17 41021216 41021216 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 41021216 41021216 C G SNP AOC4 ENST00000562301 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4 Clone_based_vega_gene ENSG00000260105 22 18 45.00 31 0 0.00 AOX1 316 genome.wustl.edu 37 2 201457893 201457893 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201457893 201457893 G A SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.70 p.E24K 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 108 53 32.92 71 0 0.00 AOX1 316 genome.wustl.edu 37 2 201485959 201485959 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201485959 201485959 C T SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.1991 p.A664V 0.240 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 21 6 22.22 38 0 0.00 AOX1 316 genome.wustl.edu 37 2 201507422 201507422 + Silent SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 201507422 201507422 A C SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known silent c.2745 p.P915 0.048 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 45 21 31.82 23 0 0.00 AOX1 316 genome.wustl.edu 37 2 201507422 201507422 + Silent SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 201507422 201507422 A C SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known silent c.2745 p.P915 0.048 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 63 20 23.81 66 0 0.00 AOX1 316 genome.wustl.edu 37 2 201531455 201531455 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201531455 201531455 C T SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.3589 p.P1197S 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 70 22 23.91 49 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201607053 201607053 + RNA SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 201607053 201607053 C T SNP AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.688 - - - no_errors AOX2P HGNC ENSG00000243478 16 11 40.74 24 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201607083 201607083 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 201607083 201607083 G C SNP AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.483 - - - no_errors AOX2P HGNC ENSG00000243478 37 10 21.28 48 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201619758 201619759 + RNA DEL TG TG - TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 201619758 201619759 TG - DEL AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ENSG00000243478 36 4 10.00 29 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201619758 201619759 + RNA DEL TG TG - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 201619758 201619759 TG - DEL AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ENSG00000243478 3 4 57.14 8 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201623719 201623719 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201623719 201623719 G A SNP AOX2P ENST00000470911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 64 26 28.89 29 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201623722 201623722 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201623722 201623722 G A SNP AOX2P ENST00000470911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 58 26 30.95 30 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201629486 201629486 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 201629486 201629486 G T SNP AOX2P ENST00000467645 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 1 12 92.31 31 0 0.00 AOX2P 344454 genome.wustl.edu 37 2 201635338 201635338 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201635338 201635338 G C SNP AOX2P ENST00000467645 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors AOX2P HGNC ENSG00000243478 25 24 48.98 58 0 0.00 AP1AR 55435 genome.wustl.edu 37 4 113184201 113184201 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 113184201 113184201 C T SNP AP1AR ENST00000274000 human ensembl 70_37 +1 known missense c.340 p.R114C 1.000 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 32 6 15.79 30 0 0.00 AP1B1 162 genome.wustl.edu 37 22 29724828 29724828 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 29724828 29724828 C T SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known silent c.2832 p.E944 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 46 19 29.23 70 0 0.00 AP1B1 162 genome.wustl.edu 37 22 29727818 29727818 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 29727818 29727818 C T SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known silent c.2397 p.T799 0.016 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 38 19 33.33 74 0 0.00 AP1B1 162 genome.wustl.edu 37 22 29755894 29755894 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 29755894 29755894 C A SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known missense c.198 p.K66N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 30 12 28.57 41 0 0.00 AP1B1P1 23782 genome.wustl.edu 37 22 32528330 32528330 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32528330 32528330 C G SNP AP1B1P1 ENST00000432373 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AP1B1P1 HGNC ENSG00000234479 33 8 19.51 39 0 0.00 AP1G1 164 genome.wustl.edu 37 16 71798269 71798269 + Nonsense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 71798269 71798269 G C SNP AP1G1 ENST00000433195 human ensembl 70_37 -1 known nonsense c.971 p.S324* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 5 13 72.22 30 0 0.00 AP1G1 164 genome.wustl.edu 37 16 71841730 71841730 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 71841730 71841730 C A SNP AP1G1 ENST00000570297 human ensembl 70_37 -1 known rna NULL NULL 0.673 - - - no_errors AP1G1 HGNC ENSG00000166747 31 4 11.43 30 0 0.00 AP1G1 164 genome.wustl.edu 37 16 71841764 71841765 + RNA INS - - A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 71841764 71841765 - A INS AP1G1 ENST00000570297 human ensembl 70_37 -1 known rna NULL NULL 0.007:0.002 - - - no_errors AP1G1 HGNC ENSG00000166747 28 4 12.50 38 0 0.00 AP1M1 8907 genome.wustl.edu 37 19 16314297 16314297 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16314297 16314297 G A SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known missense c.70 p.D24N 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 28 23 45.10 68 0 0.00 AP1M1 8907 genome.wustl.edu 37 19 16317185 16317185 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 16317185 16317185 C T SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known missense c.233 p.S78L 0.999 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 14 11 44.00 45 0 0.00 AP1M1 8907 genome.wustl.edu 37 19 16337342 16337342 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16337342 16337342 C A SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known silent c.693 p.L231 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 39 28 41.79 122 0 0.00 AP1M2 10053 genome.wustl.edu 37 19 10692201 10692201 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10692201 10692201 C T SNP AP1M2 ENST00000590923 human ensembl 70_37 -1 known missense c.508 p.E170K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 27 30 52.63 46 0 0.00 AP1S2 8905 genome.wustl.edu 37 X 15849592 15849592 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 15849592 15849592 C G SNP AP1S2 ENST00000479184 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP1S2 HGNC ENSG00000182287 13 4 23.53 21 0 0.00 AP1S2 8905 genome.wustl.edu 37 X 15870500 15870500 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 15870500 15870500 C G SNP AP1S2 ENST00000421527 human ensembl 70_37 -1 known missense c.274 p.E92Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors AP1S2 HGNC ENSG00000182287 117 29 19.86 117 0 0.00 AP1S3 130340 genome.wustl.edu 37 2 224629953 224629953 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 224629953 224629953 C T SNP AP1S3 ENST00000443700 human ensembl 70_37 -1 known missense c.406 p.E136K 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S3 HGNC ENSG00000152056 18 6 25.00 28 0 0.00 AP2A1 160 genome.wustl.edu 37 19 50295238 50295238 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 50295238 50295238 C T SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known nonsense c.520 p.R174* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 21 4 16.00 47 0 0.00 AP2A1 160 genome.wustl.edu 37 19 50302075 50302075 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50302075 50302075 G C SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 48 15 23.81 58 0 0.00 AP2A1 160 genome.wustl.edu 37 19 50308784 50308784 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 50308784 50308784 G A SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known missense c.2419 p.E807K 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 13 19 59.38 28 0 0.00 AP2A2 161 genome.wustl.edu 37 11 1008050 1008050 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1008050 1008050 G C SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.2338 p.E780Q 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 34 29 46.03 48 0 0.00 AP2A2 161 genome.wustl.edu 37 11 1008096 1008096 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 1008096 1008096 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.2384 p.S795C 0.044 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 45 12 21.05 43 0 0.00 AP2A2 161 genome.wustl.edu 37 11 959489 959489 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 959489 959489 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.120 p.I40M 0.995 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 12 10 45.45 19 0 0.00 AP2A2 161 genome.wustl.edu 37 11 994122 994122 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 994122 994122 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.1836 p.I612M 1.000 pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 56 14 20.00 54 0 0.00 AP2B1 163 genome.wustl.edu 37 17 33925300 33925300 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 33925300 33925300 G T SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.89 p.R30I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 32 10 23.81 34 0 0.00 AP2B1 163 genome.wustl.edu 37 17 33951604 33951604 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33951604 33951604 G C SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.714 p.Q238H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 33 37 52.86 28 0 0.00 AP2B1 163 genome.wustl.edu 37 17 33954732 33954732 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 33954732 33954732 C T SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.1142 p.A381V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 56 19 25.33 97 0 0.00 AP2B1 163 genome.wustl.edu 37 17 33968959 33968959 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33968959 33968959 G A SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.1501 p.E501K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 13 7 35.00 31 0 0.00 AP2B1 163 genome.wustl.edu 37 17 33984676 33984676 + Nonsense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 33984676 33984676 C T SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known nonsense c.1855 p.Q619* 1.000 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 50 25 33.33 53 0 0.00 AP2M1 1173 genome.wustl.edu 37 3 183898925 183898925 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 183898925 183898925 G C SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known silent c.618 p.L206 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 39 18 31.58 67 0 0.00 AP2M1 1173 genome.wustl.edu 37 3 183898974 183898974 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 183898974 183898974 G A SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known missense c.667 p.E223K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 37 14 27.45 65 0 0.00 AP2M1 1173 genome.wustl.edu 37 3 183899781 183899781 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 183899781 183899781 C G SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known silent c.909 p.V303 0.999 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 45 38 45.24 66 0 0.00 AP2M1 1173 genome.wustl.edu 37 3 183899783 183899783 + Missense_Mutation SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 183899783 183899783 A T SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known missense c.911 p.K304M 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 132 38 22.35 79 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77330203 77330203 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 77330203 77330203 G T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.2876 p.T959N 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 15 3 16.67 21 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77338708 77338708 + RNA SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 77338708 77338708 G C SNP AP3B1 ENST00000523204 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP3B1 HGNC ENSG00000132842 13 13 50.00 18 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77406134 77406134 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 77406134 77406134 G A SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.2294 p.S765L 0.017 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 53 6 10.17 37 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77423876 77423876 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 77423876 77423876 C T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.1946 p.R649Q 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 12 11 47.83 54 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77452106 77452106 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 77452106 77452106 C T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.1449 p.M483I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 17 16 48.48 50 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77471612 77471612 + Frame_Shift_Del DEL C C - TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 77471612 77471612 C - DEL AP3B1 ENST00000255194 human ensembl 70_37 -1 known frame_shift_del c.1091 p.R364fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 27 12 30.77 37 0 0.00 AP3B1 8546 genome.wustl.edu 37 5 77524005 77524005 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 77524005 77524005 G T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.338 p.A113E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 50 8 13.79 85 0 0.00 AP3B2 8120 genome.wustl.edu 37 15 83331647 83331647 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 83331647 83331647 G A SNP AP3B2 ENST00000261722 human ensembl 70_37 -1 known missense c.2575 p.R859W 0.272 superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 26 20 43.48 48 0 0.00 AP3B2 8120 genome.wustl.edu 37 15 83349469 83349469 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 83349469 83349469 G A SNP AP3B2 ENST00000261722 human ensembl 70_37 -1 known silent c.810 p.Y270 0.891 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 13 9 40.91 19 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2102253 2102253 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 2102253 2102253 G C SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known silent c.3567 p.V1189 0.888 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 37 14 27.45 47 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2114291 2114291 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2114291 2114291 C T SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.2434 p.D812N 0.998 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 16 50 75.76 57 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2114814 2114814 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 2114814 2114814 G C SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.2356 p.L786V 0.784 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 66 22 25.00 64 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2120979 2120979 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 2120979 2120979 C A SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.1363 p.A455S 0.999 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 33 4 10.81 25 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2121284 2121284 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 2121284 2121284 G A SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known silent c.1128 p.I376 0.375 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 32 7 17.95 35 0 0.00 AP3D1 8943 genome.wustl.edu 37 19 2130441 2130441 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 2130441 2130441 G T SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known silent c.558 p.P186 0.971 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 29 4 12.12 41 0 0.00 AP3M1 26985 genome.wustl.edu 37 10 75888905 75888905 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 75888905 75888905 C G SNP AP3M1 ENST00000355264 human ensembl 70_37 -1 known missense c.764 p.G255A 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP3M1 HGNC ENSG00000185009 18 14 43.75 31 0 0.00 AP3M1 26985 genome.wustl.edu 37 10 75896476 75896476 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 75896476 75896476 C T SNP AP3M1 ENST00000355264 human ensembl 70_37 -1 known missense c.359 p.G120E 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP3M1 HGNC ENSG00000185009 14 12 46.15 46 0 0.00 AP3S1 1176 genome.wustl.edu 37 5 115230837 115230837 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 115230837 115230837 G C SNP AP3S1 ENST00000316788 human ensembl 70_37 +1 known missense c.327 p.L109F 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 75 14 15.73 65 0 0.00 AP3S1 1176 genome.wustl.edu 37 5 115238600 115238600 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 115238600 115238600 G A SNP AP3S1 ENST00000316788 human ensembl 70_37 +1 known missense c.364 p.E122K 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 26 6 18.75 35 0 0.00 AP3S2 10239 genome.wustl.edu 37 15 90437158 90437158 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 90437158 90437158 G C SNP AP3S2 ENST00000336418 human ensembl 70_37 -1 known missense c.24 p.F8L 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S2 HGNC ENSG00000157823 51 37 42.05 53 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114438007 114438007 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114438007 114438007 T A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.1900 p.T634S 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 37 12 24.49 37 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114438460 114438460 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 114438460 114438460 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.1711 p.H571Y 0.996 superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 66 15 18.52 41 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114438788 114438788 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 114438788 114438788 C G SNP AP4B1 ENST00000479285 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 32 15 31.91 55 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114442773 114442773 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 114442773 114442773 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known silent c.867 p.S289 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 30 7 18.92 47 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114443928 114443928 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 114443928 114443928 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known silent c.547 p.L183 0.997 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 37 11 22.92 44 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114445444 114445444 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114445444 114445444 C G SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 39 18 31.58 48 0 0.00 AP4B1 10717 genome.wustl.edu 37 1 114447340 114447340 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114447340 114447340 C G SNP AP4B1 ENST00000484201 human ensembl 70_37 -1 known rna NULL NULL 0.066 - - - no_errors AP4B1 HGNC ENSG00000134262 36 22 37.93 43 0 0.00 AP4B1-AS1 100287722 genome.wustl.edu 37 1 114400196 114400196 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 114400196 114400196 A - DEL AP4B1-AS1 ENST00000419536 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AP4B1-AS1 HGNC ENSG00000226167 25 10 28.57 32 0 0.00 AP4B1-AS1 100287722 genome.wustl.edu 37 1 114440589 114440589 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114440589 114440589 G A SNP AP4B1-AS1 ENST00000419536 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AP4B1-AS1 HGNC ENSG00000226167 56 25 30.86 56 0 0.00 AP4E1 23431 genome.wustl.edu 37 15 51210301 51210302 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 15 51210301 51210302 - A INS AP4E1 ENST00000561004 human ensembl 70_37 +1 putative rna NULL NULL 0.008:0.007 - - - no_errors AP4E1 HGNC ENSG00000081014 51 7 12.07 29 0 0.00 AP4E1 23431 genome.wustl.edu 37 15 51293237 51293237 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 51293237 51293237 C G SNP AP4E1 ENST00000261842 human ensembl 70_37 +1 known nonsense c.3110 p.S1037* 0.998 pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 3 6 66.67 28 0 0.00 AP4S1 11154 genome.wustl.edu 37 14 31549837 31549837 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 31549837 31549837 C G SNP AP4S1 ENST00000216366 human ensembl 70_37 +1 known missense c.353 p.S118C 0.000 pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP4S1 HGNC ENSG00000100478 49 17 25.76 67 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546305 65546305 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 65546305 65546305 C A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1659 p.Q553H 0.866 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 74 35 32.11 61 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546419 65546419 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65546419 65546419 C G SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1545 p.L515 0.788 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 42 12 22.22 40 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546592 65546592 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65546592 65546592 G A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1372 p.P458S 0.949 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 24 20 45.45 36 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546749 65546749 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65546749 65546749 G C SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1215 p.L405 0.948 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 44 16 26.67 60 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546749 65546749 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 65546749 65546749 G C SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1215 p.L405 0.948 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 52 6 10.34 59 0 0.00 AP5B1 91056 genome.wustl.edu 37 11 65546763 65546763 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 65546763 65546763 G A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1201 p.L401F 0.939 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 41 7 14.58 73 0 0.00 AP5M1 55745 genome.wustl.edu 37 14 57740978 57740978 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 57740978 57740978 G A SNP AP5M1 ENST00000261558 human ensembl 70_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 21 8 27.59 30 0 0.00 AP5Z1 9907 genome.wustl.edu 37 7 4820830 4820830 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 4820830 4820830 G A SNP AP5Z1 ENST00000348624 human ensembl 70_37 +1 known silent c.66 p.K22 0.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 35 14 28.57 37 0 0.00 AP5Z1 9907 genome.wustl.edu 37 7 4827276 4827276 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 4827276 4827276 G A SNP AP5Z1 ENST00000348624 human ensembl 70_37 +1 known nonsense c.1323 p.W441* 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 68 15 18.07 57 0 0.00 APAF1 317 genome.wustl.edu 37 12 99042547 99042547 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 99042547 99042547 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known silent c.282 p.V94 0.006 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 19 6 24.00 11 0 0.00 APAF1 317 genome.wustl.edu 37 12 99042552 99042552 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 99042552 99042552 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known missense c.287 p.S96F 0.501 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 15 8 34.78 29 0 0.00 APAF1 317 genome.wustl.edu 37 12 99042620 99042620 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 99042620 99042620 C T SNP APAF1 ENST00000547743 human ensembl 70_37 +1 putative missense c.355 p.L119F 0.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors APAF1 HGNC ENSG00000120868 126 93 42.47 146 0 0.00 APAF1 317 genome.wustl.edu 37 12 99042620 99042620 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 99042620 99042620 C T SNP APAF1 ENST00000547743 human ensembl 70_37 +1 putative missense c.355 p.L119F 0.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors APAF1 HGNC ENSG00000120868 43 28 39.44 38 0 0.00 APAF1 317 genome.wustl.edu 37 12 99106099 99106099 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 99106099 99106099 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known silent c.2844 p.L948 0.995 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 50 8 13.79 59 0 0.00 APAF1 317 genome.wustl.edu 37 12 99120964 99120964 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 99120964 99120964 C G SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known nonsense c.3470 p.S1157* 0.706 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 26 13 33.33 45 0 0.00 APBA1 320 genome.wustl.edu 37 9 72071269 72071269 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 9 72071269 72071269 C T SNP APBA1 ENST00000265381 human ensembl 70_37 -1 known missense c.1682 p.R561Q 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 312 121 27.82 409 0 0.00 APBA2 321 genome.wustl.edu 37 15 29346175 29346175 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 29346175 29346175 G C SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.88 p.E30Q 0.016 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 40 12 23.08 55 0 0.00 APBA2 321 genome.wustl.edu 37 15 29346279 29346279 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 29346279 29346279 C G SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.192 p.H64Q 0.905 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 83 15 15.31 141 0 0.00 APBA2 321 genome.wustl.edu 37 15 29393976 29393976 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 29393976 29393976 G A SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.1513 p.E505K 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 46 29 38.67 56 0 0.00 APBA3 9546 genome.wustl.edu 37 19 3759797 3759797 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 3759797 3759797 C T SNP APBA3 ENST00000316757 human ensembl 70_37 -1 known missense c.466 p.E156K 0.022 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC ENSG00000011132 37 13 26.00 45 0 0.00 APBA3 9546 genome.wustl.edu 37 19 3760026 3760026 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 3760026 3760026 G T SNP APBA3 ENST00000316757 human ensembl 70_37 -1 known silent c.237 p.A79 0.355 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC ENSG00000011132 34 4 10.53 34 0 0.00 APBB1 322 genome.wustl.edu 37 11 6417049 6417049 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 6417049 6417049 G A SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known silent c.1932 p.A644 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC ENSG00000166313 68 21 23.60 151 0 0.00 APBB1 322 genome.wustl.edu 37 11 6422892 6422892 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6422892 6422892 T G SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known missense c.1415 p.K472T 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC ENSG00000166313 32 17 34.00 66 0 0.00 APBB1 322 genome.wustl.edu 37 11 6423916 6423916 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 6423916 6423916 C T SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known missense c.1144 p.E382K 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC ENSG00000166313 101 25 19.84 135 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26785257 26785257 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 26785257 26785257 C T SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.97 p.P33S 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 26 11 29.73 49 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26790038 26790038 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 10 26790038 26790038 C A SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.451 p.Q151K 0.996 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 42 17 28.81 65 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26800778 26800778 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 26800778 26800778 C G SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.634 p.H212D 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 63 54 45.76 68 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26802469 26802469 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 26802469 26802469 G A SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known silent c.693 p.E231 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 37 21 36.21 30 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26851194 26851194 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 26851194 26851194 G A SNP APBB1IP ENST00000493857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors APBB1IP HGNC ENSG00000077420 121 51 29.65 178 0 0.00 APBB1IP 54518 genome.wustl.edu 37 10 26856371 26856371 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 26856371 26856371 C G SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known nonsense c.1955 p.S652* 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 12 8 40.00 24 0 0.00 APBB2 323 genome.wustl.edu 37 4 40825700 40825700 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 40825700 40825700 C G SNP APBB2 ENST00000295974 human ensembl 70_37 -1 known missense c.1890 p.M630I 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC ENSG00000163697 86 30 25.64 94 0 0.00 APBB2 323 genome.wustl.edu 37 4 41016329 41016329 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 41016329 41016329 G T SNP APBB2 ENST00000295974 human ensembl 70_37 -1 known missense c.106 p.P36T 1.000 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC ENSG00000163697 25 22 46.81 105 0 0.00 APBB3 10307 genome.wustl.edu 37 5 139943250 139943250 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 139943250 139943250 C T SNP APBB3 ENST00000356738 human ensembl 70_37 -1 known silent c.219 p.T73 0.000 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB3 HGNC ENSG00000113108 40 6 13.04 41 0 0.00 APC 324 genome.wustl.edu 37 5 112136975 112136975 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 112136975 112136975 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known splice_site c.730-1 e7-1 1.000 - - - no_errors APC HGNC ENSG00000134982 57 19 25.00 60 0 0.00 APC 324 genome.wustl.edu 37 5 112174700 112174700 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 112174700 112174700 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.3409 p.D1137N 1.000 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 11 7 38.89 27 0 0.00 APC 324 genome.wustl.edu 37 5 112174700 112174700 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 112174700 112174700 G C SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.3409 p.D1137H 1.000 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 26 3 10.34 56 0 0.00 APC 324 genome.wustl.edu 37 5 112175921 112175921 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 5 112175921 112175921 G C SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.4630 p.E1544Q 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 52 22 29.73 58 0 0.00 APC 324 genome.wustl.edu 37 5 112177389 112177389 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112177389 112177389 A G SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.6098 p.D2033G 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 13 4 23.53 18 0 0.00 APC 324 genome.wustl.edu 37 5 112178155 112178155 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 5 112178155 112178155 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known silent c.6864 p.Q2288 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 17 8 32.00 21 0 0.00 APC 324 genome.wustl.edu 37 5 112178870 112178870 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 112178870 112178870 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.7579 p.D2527N 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 23 26 53.06 56 0 0.00 APC 324 genome.wustl.edu 37 5 112179351 112179351 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 112179351 112179351 C T SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.8060 p.S2687L 0.974 pfam_EB1-bd pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 52 6 10.34 39 0 0.00 APC2 10297 genome.wustl.edu 37 19 1456386 1456386 + Nonsense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 1456386 1456386 C T SNP APC2 ENST00000233607 human ensembl 70_37 +1 known nonsense c.799 p.Q267* 0.631 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 33 13 28.26 50 0 0.00 APC2 10297 genome.wustl.edu 37 19 1462028 1462028 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 1462028 1462028 G A SNP APC2 ENST00000233607 human ensembl 70_37 +1 known missense c.1705 p.A569T 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 23 4 14.81 36 0 0.00 APC2 10297 genome.wustl.edu 37 19 1465202 1465202 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 1465202 1465202 G C SNP APC2 ENST00000233607 human ensembl 70_37 +1 known silent c.1902 p.L634 0.997 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 9 9 50.00 14 0 0.00 APCDD1 147495 genome.wustl.edu 37 18 10468599 10468599 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 10468599 10468599 G A SNP APCDD1 ENST00000355285 human ensembl 70_37 +1 known silent c.192 p.R64 0.982 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 47 22 31.88 59 0 0.00 APCDD1L 164284 genome.wustl.edu 37 20 57036492 57036492 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 57036492 57036492 G C SNP APCDD1L ENST00000439429 human ensembl 70_37 -1 known missense c.893 p.S298W 0.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 40 8 16.67 42 0 0.00 APCS 325 genome.wustl.edu 37 1 159558199 159558199 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 159558199 159558199 G A SNP APCS ENST00000255040 human ensembl 70_37 +1 known missense c.373 p.E125K 0.004 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC ENSG00000132703 41 18 30.51 87 0 0.00 APCS 325 genome.wustl.edu 37 1 159558217 159558217 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 159558217 159558217 A G SNP APCS ENST00000255040 human ensembl 70_37 +1 known missense c.391 p.T131A 0.993 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC ENSG00000132703 86 29 25.22 103 0 0.00 APEX1 328 genome.wustl.edu 37 14 20923756 20923756 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 20923756 20923756 G A SNP APEX1 ENST00000556296 human ensembl 70_37 +1 putative rna NULL NULL 0.105 - - - no_errors APEX1 HGNC ENSG00000100823 23 4 14.81 32 0 0.00 APEX1 328 genome.wustl.edu 37 14 20925478 20925478 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 20925478 20925478 C G SNP APEX1 ENST00000216714 human ensembl 70_37 +1 known silent c.768 p.L256 0.635 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX1 HGNC ENSG00000100823 30 12 28.57 49 0 0.00 APEX2 27301 genome.wustl.edu 37 X 55026966 55026966 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 55026966 55026966 C T SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known silent c.111 p.D37 0.960 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ENSG00000169188 42 14 25.00 74 0 0.00 APEX2 27301 genome.wustl.edu 37 X 55028832 55028832 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 55028832 55028832 G T SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known missense c.390 p.E130D 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ENSG00000169188 21 14 40.00 40 0 0.00 APEX2 27301 genome.wustl.edu 37 X 55033705 55033705 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 55033705 55033705 G A SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.071 NULL pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ENSG00000169188 36 15 29.41 51 0 0.00 APH1A 51107 genome.wustl.edu 37 1 150238976 150238976 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 150238976 150238976 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known silent c.690 p.I230 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 31 10 24.39 55 0 0.00 APH1A 51107 genome.wustl.edu 37 1 150239367 150239367 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 150239367 150239367 C T SNP APH1A ENST00000486308 human ensembl 70_37 -1 known rna NULL NULL 0.504 - - - no_errors APH1A HGNC ENSG00000117362 27 6 18.18 35 0 0.00 APH1A 51107 genome.wustl.edu 37 1 150240405 150240405 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 150240405 150240405 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known missense c.236 p.S79F 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 176 37 17.29 139 0 0.00 APH1A 51107 genome.wustl.edu 37 1 150241120 150241120 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150241120 150241120 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known missense c.91 p.R31C 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 67 32 31.68 59 0 0.00 APH1A 51107 genome.wustl.edu 37 1 150241157 150241157 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 150241157 150241157 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known silent c.54 p.F18 0.997 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 17 10 37.04 26 0 0.00 APH1B 83464 genome.wustl.edu 37 15 63571440 63571440 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 63571440 63571440 G A SNP APH1B ENST00000261879 human ensembl 70_37 +1 known missense c.194 p.G65E 0.059 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 38 23 37.70 101 0 0.00 APH1B 83464 genome.wustl.edu 37 15 63597826 63597826 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63597826 63597826 C A SNP APH1B ENST00000261879 human ensembl 70_37 +1 known missense c.620 p.S207Y 0.983 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 22 10 31.25 47 0 0.00 API5 8539 genome.wustl.edu 37 11 43350418 43350418 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 43350418 43350418 G A SNP API5 ENST00000531273 human ensembl 70_37 +1 known missense c.1102 p.E368K 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 44 10 18.52 47 0 0.00 APIP 51074 genome.wustl.edu 37 11 34877323 34877323 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 34877323 34877323 C G SNP APIP ENST00000532428 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors APIP HGNC ENSG00000149089 27 18 40.00 39 0 0.00 APIP 51074 genome.wustl.edu 37 11 34912207 34912207 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 34912207 34912207 C T SNP APIP ENST00000532428 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors APIP HGNC ENSG00000149089 19 4 17.39 35 0 0.00 APIP 51074 genome.wustl.edu 37 11 34916565 34916565 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 34916565 34916565 C G SNP APIP ENST00000278359 human ensembl 70_37 -1 known missense c.201 p.L67F 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 54 15 21.74 69 0 0.00 APLF 200558 genome.wustl.edu 37 2 68753297 68753297 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 68753297 68753297 G A SNP APLF ENST00000303795 human ensembl 70_37 +1 known missense c.727 p.E243K 0.921 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 21 10 32.26 31 0 0.00 APLF 200558 genome.wustl.edu 37 2 68804999 68804999 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 68804999 68804999 G C SNP APLF ENST00000303795 human ensembl 70_37 +1 known missense c.1381 p.E461Q 0.519 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 111 39 26.00 40 0 0.00 APLN 8862 genome.wustl.edu 37 X 128782615 128782615 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 128782615 128782615 G T SNP APLN ENST00000427399 human ensembl 70_37 -1 known missense c.110 p.P37Q 1.000 NULL NULL - no_errors APLN HGNC ENSG00000171388 79 33 29.46 96 0 0.00 APLNR 187 genome.wustl.edu 37 11 57003624 57003624 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 57003624 57003624 G A SNP APLNR ENST00000257254 human ensembl 70_37 -1 known silent c.855 p.L285 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 72 22 23.40 88 0 0.00 APLNR 187 genome.wustl.edu 37 11 57003977 57003977 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 57003977 57003977 G A SNP APLNR ENST00000257254 human ensembl 70_37 -1 known missense c.502 p.R168C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 12 6 33.33 45 0 0.00 APLNR 187 genome.wustl.edu 37 11 57004286 57004286 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57004286 57004286 C T SNP APLNR ENST00000257254 human ensembl 70_37 -1 known missense c.193 p.D65N 0.995 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 17 11 39.29 33 0 0.00 APLP1 333 genome.wustl.edu 37 19 36365430 36365430 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 36365430 36365430 C G SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1081 p.L361V 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 23 6 20.69 40 0 0.00 APLP1 333 genome.wustl.edu 37 19 36365650 36365650 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36365650 36365650 G A SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1223 p.R408H 0.992 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 11 10 47.62 22 0 0.00 APLP1 333 genome.wustl.edu 37 19 36365690 36365690 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 36365690 36365690 G C SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1263 p.Q421H 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 42 6 12.50 35 0 0.00 APLP2 334 genome.wustl.edu 37 11 129979462 129979462 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 129979462 129979462 G C SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known missense c.244 p.E82Q 0.991 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 54 19 26.03 65 0 0.00 APLP2 334 genome.wustl.edu 37 11 129980540 129980540 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 129980540 129980540 A C SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known silent c.387 p.T129 0.910 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 19 8 29.63 50 0 0.00 APLP2 334 genome.wustl.edu 37 11 130005463 130005463 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 130005463 130005463 C A SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known missense c.1690 p.L564I 0.979 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 30 25 44.64 62 0 0.00 APMAP 57136 genome.wustl.edu 37 20 24949580 24949580 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 24949580 24949580 G T SNP APMAP ENST00000217456 human ensembl 70_37 -1 known missense c.989 p.S330Y 1.000 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 27 4 12.90 36 0 0.00 APMAP 57136 genome.wustl.edu 37 20 24959457 24959457 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 24959457 24959457 C T SNP APMAP ENST00000217456 human ensembl 70_37 -1 known missense c.274 p.E92K 0.850 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 35 7 16.28 25 0 0.00 APOA1BP 128240 genome.wustl.edu 37 1 156563345 156563345 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156563345 156563345 C G SNP APOA1BP ENST00000368235 human ensembl 70_37 +1 known nonsense c.662 p.S221* 1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 16 17 51.52 31 0 0.00 APOA1BP 128240 genome.wustl.edu 37 1 156563372 156563372 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 156563372 156563372 G T SNP APOA1BP ENST00000368233 human ensembl 70_37 +1 known missense c.689 p.W230L 0.000 NULL pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 31 5 13.89 21 0 0.00 APOA4 337 genome.wustl.edu 37 11 116692248 116692248 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 116692248 116692248 G A SNP APOA4 ENST00000357780 human ensembl 70_37 -1 known nonsense c.526 p.Q176* 0.907 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 223 79 26.16 328 0 0.00 APOB 338 genome.wustl.edu 37 2 21225910 21225910 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21225910 21225910 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.12384 p.V4128 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 23 17 42.50 32 0 0.00 APOB 338 genome.wustl.edu 37 2 21228336 21228336 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 21228336 21228336 G C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.11404 p.Q3802E 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 198 61 23.55 246 0 0.00 APOB 338 genome.wustl.edu 37 2 21228795 21228795 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 21228795 21228795 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.10945 p.E3649K 0.245 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 53 8 13.11 52 0 0.00 APOB 338 genome.wustl.edu 37 2 21229833 21229833 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 21229833 21229833 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9907 p.E3303K 0.781 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 31 20 39.22 40 0 0.00 APOB 338 genome.wustl.edu 37 2 21230105 21230105 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 21230105 21230105 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9635 p.R3212T 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 29 7 19.44 45 0 0.00 APOB 338 genome.wustl.edu 37 2 21230143 21230143 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21230143 21230143 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9597 p.Q3199H 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 60 27 31.03 88 0 0.00 APOB 338 genome.wustl.edu 37 2 21231002 21231002 + Missense_Mutation SNP A A C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 21231002 21231002 A C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.8738 p.L2913R 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 175 31 14.98 86 0 0.00 APOB 338 genome.wustl.edu 37 2 21231445 21231445 + Missense_Mutation SNP T T A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 21231445 21231445 T A SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.8295 p.Q2765H 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 20 4 16.67 33 0 0.00 APOB 338 genome.wustl.edu 37 2 21232108 21232108 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 21232108 21232108 G T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.7632 p.S2544R 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 34 7 17.07 58 0 0.00 APOB 338 genome.wustl.edu 37 2 21232739 21232739 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 21232739 21232739 A C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.7001 p.I2334S 0.875 superfamily_ARM-type_fold pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 28 5 15.15 32 0 0.00 APOB 338 genome.wustl.edu 37 2 21233079 21233079 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 21233079 21233079 T G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.6661 p.N2221H 0.000 superfamily_ARM-type_fold pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 10 7 41.18 17 0 0.00 APOB 338 genome.wustl.edu 37 2 21233619 21233619 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 21233619 21233619 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.6121 p.E2041Q 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 97 44 31.21 64 0 0.00 APOB 338 genome.wustl.edu 37 2 21234642 21234642 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 21234642 21234642 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.5098 p.D1700N 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 126 41 24.55 105 0 0.00 APOB 338 genome.wustl.edu 37 2 21241867 21241867 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 21241867 21241867 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.3118 p.E1040K 1.000 pfam_Lipid_transpt_open_b-sht pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 54 24 30.77 123 0 0.00 APOB 338 genome.wustl.edu 37 2 21246399 21246399 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 21246399 21246399 T C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.2602 p.N868D 0.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 50 14 21.88 61 0 0.00 APOB 338 genome.wustl.edu 37 2 21247862 21247862 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 21247862 21247862 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.2379 p.Q793 0.004 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 30 14 31.82 46 0 0.00 APOB 338 genome.wustl.edu 37 2 21249674 21249674 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 21249674 21249674 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.2230 p.D744N 0.008 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 11 14 56.00 24 0 0.00 APOB 338 genome.wustl.edu 37 2 21252549 21252549 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21252549 21252549 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1579 p.A527T 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 18 12 40.00 37 0 0.00 APOB 338 genome.wustl.edu 37 2 21252562 21252562 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 21252562 21252562 C A SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1566 p.M522I 0.428 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 47 9 16.07 21 0 0.00 APOB 338 genome.wustl.edu 37 2 21252878 21252878 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 21252878 21252878 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.1362 p.K454 0.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 16 8 33.33 44 0 0.00 APOB 338 genome.wustl.edu 37 2 21256185 21256185 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21256185 21256185 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.1110 p.L370 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 36 17 32.08 59 0 0.00 APOB 338 genome.wustl.edu 37 2 21256266 21256266 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21256266 21256266 C A SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1029 p.Q343H 0.992 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 25 19 43.18 43 0 0.00 APOB 338 genome.wustl.edu 37 2 21260896 21260896 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21260896 21260896 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.471 p.K157 1.000 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 30 27 47.37 52 0 0.00 APOBEC1 339 genome.wustl.edu 37 12 7802149 7802149 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 7802149 7802149 C T SNP APOBEC1 ENST00000229304 human ensembl 70_37 -1 known nonsense c.705 p.W235* 0.998 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 46 23 32.86 65 0 0.00 APOBEC3B 9582 genome.wustl.edu 37 22 39381838 39381838 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 39381838 39381838 C T SNP APOBEC3B ENST00000333467 human ensembl 70_37 +1 known missense c.196 p.H66Y 0.538 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 103 24 18.90 138 0 0.00 APOBEC3B 9582 genome.wustl.edu 37 22 39385582 39385582 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 39385582 39385582 G C SNP APOBEC3B ENST00000333467 human ensembl 70_37 +1 known silent c.690 p.L230 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 20 10 33.33 50 0 0.00 APOBEC3D 140564 genome.wustl.edu 37 22 39417539 39417539 + Silent SNP C C A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 22 39417539 39417539 C A SNP APOBEC3D ENST00000216099 human ensembl 70_37 +1 known silent c.15 p.I5 0.019 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 53 14 20.90 67 0 0.00 APOBEC3D 140564 genome.wustl.edu 37 22 39421629 39421629 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 39421629 39421629 C T SNP APOBEC3D ENST00000216099 human ensembl 70_37 +1 known silent c.558 p.F186 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 52 22 29.73 115 0 0.00 APOBEC3D 140564 genome.wustl.edu 37 22 39427902 39427902 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39427902 39427902 C T SNP APOBEC3D ENST00000216099 human ensembl 70_37 +1 known silent c.966 p.F322 0.000 superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 52 34 39.53 86 0 0.00 APOBEC3F 200316 genome.wustl.edu 37 22 39445549 39445549 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 39445549 39445549 C T SNP APOBEC3F ENST00000308521 human ensembl 70_37 +1 known missense c.686 p.S229L 0.011 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3F HGNC ENSG00000128394 36 12 25.00 63 0 0.00 APOBEC3F 200316 genome.wustl.edu 37 22 39445552 39445552 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 39445552 39445552 C T SNP APOBEC3F ENST00000308521 human ensembl 70_37 +1 known missense c.689 p.P230L 0.005 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3F HGNC ENSG00000128394 35 12 25.53 64 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39477000 39477000 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39477000 39477000 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.234 p.R78S 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 17 31 64.58 54 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39477025 39477025 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39477025 39477025 G A SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.259 p.E87K 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 23 27 54.00 58 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39477102 39477102 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 39477102 39477102 G A SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known silent c.336 p.P112 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 44 15 25.42 75 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39477172 39477172 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 39477172 39477172 C T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.406 p.R136C 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 27 19 41.30 74 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39479792 39479792 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39479792 39479792 G C SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.638 p.R213T 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 37 9 19.57 54 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39479831 39479831 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39479831 39479831 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.677 p.R226L 0.005 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 36 4 10.00 50 0 0.00 APOBEC3G 60489 genome.wustl.edu 37 22 39482545 39482545 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 39482545 39482545 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.997 p.A333S 0.049 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 52 31 37.35 35 0 0.00 APOBEC3H 164668 genome.wustl.edu 37 22 39497356 39497356 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 39497356 39497356 G T SNP APOBEC3H ENST00000442487 human ensembl 70_37 +1 known missense c.265 p.A89S 0.200 pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 38 5 11.63 55 0 0.00 APOBEC4 403314 genome.wustl.edu 37 1 183617142 183617142 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 183617142 183617142 C G SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.775 p.E259Q 0.002 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 30 13 30.23 26 0 0.00 APOBEC4 403314 genome.wustl.edu 37 1 183617796 183617796 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 183617796 183617796 C A SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.121 p.A41S 1.000 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 19 19 50.00 43 0 0.00 APOBEC4 403314 genome.wustl.edu 37 1 183617855 183617855 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 183617855 183617855 C A SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.62 p.W21L 1.000 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 21 3 12.50 35 0 0.00 APOBR 55911 genome.wustl.edu 37 16 28506478 28506478 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 28506478 28506478 G A SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.116 p.R39Q 0.033 NULL NULL - no_errors APOBR HGNC ENSG00000184730 73 10 12.05 73 0 0.00 APOBR 55911 genome.wustl.edu 37 16 28507050 28507050 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28507050 28507050 G A SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.688 p.E230K 0.002 NULL NULL - no_errors APOBR HGNC ENSG00000184730 15 8 34.78 26 0 0.00 APOBR 55911 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ENSG00000184730 24 6 20.00 25 0 0.00 APOBR 55911 genome.wustl.edu 37 16 28508263 28508263 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 28508263 28508263 G C SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.1901 p.R634T 0.224 NULL NULL - no_errors APOBR HGNC ENSG00000184730 28 22 44.00 63 0 0.00 APOC1 341 genome.wustl.edu 37 19 45419568 45419568 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 45419568 45419568 T C SNP APOC1 ENST00000252491 human ensembl 70_37 +1 known silent c.180 p.L60 0.000 pfam_ApoC-I pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 46 8 14.81 49 0 0.00 APOC1P1 342 genome.wustl.edu 37 19 45430229 45430229 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45430229 45430229 C T SNP APOC1P1 ENST00000507983 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors APOC1P1 HGNC ENSG00000214855 51 27 34.62 66 0 0.00 APOC3 345 genome.wustl.edu 37 11 116701771 116701771 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 116701771 116701771 G T SNP APOC3 ENST00000470144 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors APOC3 HGNC ENSG00000110245 27 18 40.00 36 0 0.00 APOD 347 genome.wustl.edu 37 3 195295997 195295997 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 195295997 195295997 G A SNP APOD ENST00000343267 human ensembl 70_37 -1 known missense c.344 p.S115L 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC ENSG00000189058 23 9 28.12 30 0 0.00 APOD 347 genome.wustl.edu 37 3 195295997 195295997 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195295997 195295997 G A SNP APOD ENST00000343267 human ensembl 70_37 -1 known missense c.344 p.S115L 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC ENSG00000189058 54 13 19.40 30 0 0.00 APOF 319 genome.wustl.edu 37 12 56755476 56755476 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56755476 56755476 C G SNP APOF ENST00000398189 human ensembl 70_37 -1 known missense c.514 p.E172Q 0.875 NULL NULL - no_errors APOF HGNC ENSG00000175336 29 23 44.23 39 0 0.00 APOF 319 genome.wustl.edu 37 12 56755762 56755762 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 56755762 56755762 G A SNP APOF ENST00000398189 human ensembl 70_37 -1 known silent c.228 p.F76 0.706 NULL NULL - no_errors APOF HGNC ENSG00000175336 51 20 28.17 51 0 0.00 APOH 350 genome.wustl.edu 37 17 64210633 64210633 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 17 64210633 64210633 C T SNP APOH ENST00000205948 human ensembl 70_37 -1 known missense c.920 p.C307Y 0.992 pfam_Sushi_2,superfamily_Complement_control_module pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 22 24 52.17 61 0 0.00 APOH 350 genome.wustl.edu 37 17 64216821 64216821 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 64216821 64216821 G A SNP APOH ENST00000205948 human ensembl 70_37 -1 known missense c.455 p.T152I 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 26 16 38.10 42 0 0.00 APOL1 8542 genome.wustl.edu 37 22 36657728 36657728 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 36657728 36657728 G T SNP APOL1 ENST00000319136 human ensembl 70_37 +1 known nonsense c.322 p.E108* 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 25 4 13.79 38 0 0.00 APOL1 8542 genome.wustl.edu 37 22 36661428 36661428 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 36661428 36661428 C T SNP APOL1 ENST00000319136 human ensembl 70_37 +1 known silent c.594 p.L198 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 10 23 69.70 33 0 0.00 APOL2 23780 genome.wustl.edu 37 22 36633327 36633327 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 36633327 36633327 C T SNP APOL2 ENST00000473549 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors APOL2 HGNC ENSG00000128335 19 6 24.00 11 0 0.00 APOL3 80833 genome.wustl.edu 37 22 36537912 36537912 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36537912 36537912 C A SNP APOL3 ENST00000349314 human ensembl 70_37 -1 known missense c.545 p.R182I 0.768 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 23 15 39.47 54 0 0.00 APOL3 80833 genome.wustl.edu 37 22 36556828 36556828 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 36556828 36556828 G C SNP APOL3 ENST00000349314 human ensembl 70_37 -1 known missense c.112 p.Q38E 0.000 NULL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 16 10 37.04 22 0 0.00 APOL5 80831 genome.wustl.edu 37 22 36122624 36122624 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 36122624 36122624 C T SNP APOL5 ENST00000249044 human ensembl 70_37 +1 known missense c.509 p.S170L 0.580 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 36 10 21.74 43 0 0.00 APOL6 80830 genome.wustl.edu 37 22 36055124 36055124 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 36055124 36055124 C T SNP APOL6 ENST00000409652 human ensembl 70_37 +1 known silent c.513 p.I171 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 8 5 38.46 8 0 0.00 APOOL 139322 genome.wustl.edu 37 X 84329357 84329357 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 84329357 84329357 A G SNP APOOL ENST00000373173 human ensembl 70_37 +1 known silent c.678 p.E226 0.114 NULL pfam_Apolipoprotein_O - no_errors APOOL HGNC ENSG00000155008 31 20 39.22 38 0 0.00 APP 351 genome.wustl.edu 37 21 27543063 27543063 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 27543063 27543063 C T SNP APP ENST00000474136 human ensembl 70_37 -1 known rna NULL NULL 0.293 - - - no_errors APP HGNC ENSG00000142192 22 14 38.89 21 0 0.00 APPBP2 10513 genome.wustl.edu 37 17 58524959 58524959 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 58524959 58524959 C T SNP APPBP2 ENST00000083182 human ensembl 70_37 -1 known missense c.1741 p.E581K 0.993 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 57 10 14.93 62 0 0.00 APPBP2 10513 genome.wustl.edu 37 17 58539130 58539130 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 58539130 58539130 C G SNP APPBP2 ENST00000592995 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors APPBP2 HGNC ENSG00000062725 8 6 42.86 14 0 0.00 APPBP2 10513 genome.wustl.edu 37 17 58603319 58603319 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 58603319 58603319 C T SNP APPBP2 ENST00000590244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors APPBP2 HGNC ENSG00000062725 27 28 50.91 64 0 0.00 APPL2 55198 genome.wustl.edu 37 12 105589110 105589110 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 105589110 105589110 C T SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known silent c.1188 p.L396 1.000 NULL pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ENSG00000136044 61 12 16.44 60 0 0.00 APPL2 55198 genome.wustl.edu 37 12 105591668 105591668 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 105591668 105591668 G A SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ENSG00000136044 38 15 28.30 68 0 0.00 APPL2 55198 genome.wustl.edu 37 12 105601801 105601801 + Missense_Mutation SNP T T G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 105601801 105601801 T G SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known missense c.440 p.D147A 1.000 NULL pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ENSG00000136044 160 54 25.23 249 1 0.40 APRT 353 genome.wustl.edu 37 16 88876153 88876153 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88876153 88876153 C T SNP APRT ENST00000378364 human ensembl 70_37 -1 known missense c.496 p.E166K 0.994 tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 48 18 27.27 70 0 0.00 APTX 54840 genome.wustl.edu 37 9 32973534 32973534 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 32973534 32973534 G C SNP APTX ENST00000379819 human ensembl 70_37 -1 known missense c.1033 p.Q345E 1.000 NULL pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT - no_errors APTX HGNC ENSG00000137074 22 5 18.52 28 0 0.00 AQP10 89872 genome.wustl.edu 37 1 154296280 154296280 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154296280 154296280 C T SNP AQP10 ENST00000324978 human ensembl 70_37 +1 known silent c.705 p.F235 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 46 22 32.35 60 0 0.00 AQP10 89872 genome.wustl.edu 37 1 154296309 154296309 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154296309 154296309 G A SNP AQP10 ENST00000484864 human ensembl 70_37 +1 known missense c.734 p.G245D 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3 - no_errors AQP10 HGNC ENSG00000143595 26 9 25.71 40 0 0.00 AQP10 89872 genome.wustl.edu 37 1 154296432 154296432 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 154296432 154296432 C T SNP AQP10 ENST00000355197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AQP10 HGNC ENSG00000143595 17 11 39.29 16 0 0.00 AQP10 89872 genome.wustl.edu 37 1 154296858 154296858 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 154296858 154296858 G A SNP AQP10 ENST00000324978 human ensembl 70_37 +1 known missense c.808 p.E270K 1.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 98 33 25.00 142 0 0.00 AQP10 89872 genome.wustl.edu 37 1 154296882 154296882 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 154296882 154296882 C T SNP AQP10 ENST00000324978 human ensembl 70_37 +1 known silent c.832 p.L278 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 42 27 39.13 49 0 0.00 AQP11 282679 genome.wustl.edu 37 11 77301505 77301505 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 77301505 77301505 G A SNP AQP11 ENST00000313578 human ensembl 70_37 +1 known silent c.468 p.K156 0.167 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP - no_errors AQP11 HGNC ENSG00000178301 42 26 38.24 81 0 0.00 AQP12A 375318 genome.wustl.edu 37 2 241631397 241631397 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 241631397 241631397 C T SNP AQP12A ENST00000429564 human ensembl 70_37 +1 known missense c.67 p.R23W 0.730 pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 21 15 41.67 65 0 0.00 AQP12B 653437 genome.wustl.edu 37 2 241622114 241622114 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 241622114 241622114 G A SNP AQP12B ENST00000407834 human ensembl 70_37 -1 known silent c.141 p.L47 0.903 superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 15 10 40.00 35 0 0.00 AQP2 359 genome.wustl.edu 37 12 50344910 50344910 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 50344910 50344910 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known silent c.297 p.A99 0.007 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 30 23 43.40 64 0 0.00 AQP2 359 genome.wustl.edu 37 12 50347951 50347951 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 50347951 50347951 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.374 p.T125M 0.912 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 105 30 22.22 135 0 0.00 AQP2 359 genome.wustl.edu 37 12 50347951 50347951 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 50347951 50347951 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.374 p.T125M 0.912 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 19 14 42.42 36 0 0.00 AQP2 359 genome.wustl.edu 37 12 50348075 50348075 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50348075 50348075 C A SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.498 p.F166L 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 47 6 11.32 52 0 0.00 AQP2 359 genome.wustl.edu 37 12 50348450 50348450 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 50348450 50348450 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.563 p.S188F 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 251 33 11.58 119 0 0.00 AQP5 362 genome.wustl.edu 37 12 50356026 50356026 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 50356026 50356026 C T SNP AQP5 ENST00000293599 human ensembl 70_37 +1 known missense c.226 p.L76F 0.870 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 25 9 26.47 34 0 0.00 AQP5 362 genome.wustl.edu 37 12 50357352 50357352 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50357352 50357352 C T SNP AQP5 ENST00000293599 human ensembl 70_37 +1 known silent c.441 p.F147 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 31 18 36.73 30 0 0.00 AQP7 364 genome.wustl.edu 37 9 33385029 33385029 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 33385029 33385029 C A SNP AQP7 ENST00000297988 human ensembl 70_37 -1 known nonsense c.1003 p.E335* 0.003 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 93 49 34.51 155 0 0.00 AQP7 364 genome.wustl.edu 37 9 33402384 33402385 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 33402384 33402385 - T INS AQP7 ENST00000481906 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.007 - - - no_errors AQP7 HGNC ENSG00000165269 29 5 14.71 17 0 0.00 AQP8 343 genome.wustl.edu 37 16 25232864 25232864 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 25232864 25232864 C T SNP AQP8 ENST00000219660 human ensembl 70_37 +1 known missense c.347 p.S116L 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 92 26 22.03 111 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115298713 115298713 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 115298713 115298713 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.399 p.I133 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 62 9 12.68 89 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115319106 115319106 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 115319106 115319106 T A SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known missense c.818 p.L273H 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 28 10 26.32 49 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115327936 115327936 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 115327936 115327936 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.1222 p.L408 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 19 10 34.48 25 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115339016 115339016 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 115339016 115339016 G C SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known missense c.1976 p.R659T 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 61 27 30.68 107 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115350168 115350168 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 115350168 115350168 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.2394 p.D798 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 18 18 50.00 35 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115351368 115351368 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 5 115351368 115351368 G A SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known missense c.2662 p.E888K 0.632 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 18 16 47.06 81 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115351379 115351379 + Silent SNP A A C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 5 115351379 115351379 A C SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.2673 p.I891 0.005 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 14 18 56.25 81 0 0.00 AQPEP 206338 genome.wustl.edu 37 5 115351427 115351427 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 115351427 115351427 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.2721 p.D907 0.997 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ENSG00000172901 60 21 25.93 28 0 0.00 AQR 9716 genome.wustl.edu 37 15 35149043 35149043 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 35149043 35149043 C T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.4408 p.E1470K 0.002 NULL NULL - no_errors AQR HGNC ENSG00000021776 40 9 18.37 20 0 0.00 AQR 9716 genome.wustl.edu 37 15 35159783 35159783 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 35159783 35159783 G A SNP AQR ENST00000156471 human ensembl 70_37 -1 known nonsense c.3796 p.Q1266* 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 29 22 43.14 47 0 0.00 AQR 9716 genome.wustl.edu 37 15 35166070 35166070 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 35166070 35166070 G A SNP AQR ENST00000156471 human ensembl 70_37 -1 known nonsense c.3556 p.Q1186* 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 88 38 30.16 132 1 0.75 AQR 9716 genome.wustl.edu 37 15 35166878 35166878 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 15 35166878 35166878 C T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.3425 p.S1142N 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 34 7 17.07 51 0 0.00 AQR 9716 genome.wustl.edu 37 15 35176741 35176741 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 35176741 35176741 G T SNP AQR ENST00000156471 human ensembl 70_37 -1 known silent c.3012 p.I1004 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 15 9 37.50 26 0 0.00 AQR 9716 genome.wustl.edu 37 15 35226813 35226813 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 35226813 35226813 G T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.742 p.H248N 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 43 12 21.82 44 0 0.00 AR 367 genome.wustl.edu 37 X 66765338 66765338 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 66765338 66765338 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.350 p.S117L 0.736 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 13 3 18.75 15 0 0.00 AR 367 genome.wustl.edu 37 X 66765450 66765450 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 66765450 66765450 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known silent c.462 p.D154 0.705 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 22 3 12.00 33 0 0.00 AR 367 genome.wustl.edu 37 X 66765955 66765955 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 66765955 66765955 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.967 p.E323K 0.061 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 23 15 39.47 32 0 0.00 AR 367 genome.wustl.edu 37 X 66766391 66766391 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 66766391 66766391 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1403 p.G468D 0.007 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 6 3 33.33 17 0 0.00 AR 367 genome.wustl.edu 37 X 66766450 66766450 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 66766450 66766450 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known nonsense c.1462 p.Q488* 1.000 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 25 7 21.88 22 0 0.00 AR 367 genome.wustl.edu 37 X 66863102 66863102 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 66863102 66863102 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1621 p.E541Q 1.000 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 53 33 38.37 195 0 0.00 AR 367 genome.wustl.edu 37 X 66905906 66905906 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 66905906 66905906 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1823 p.R608Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 89 46 34.07 126 0 0.00 AR 367 genome.wustl.edu 37 X 66931424 66931424 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 66931424 66931424 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.2066 p.G689A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 41 8 16.33 71 0 0.00 AR 367 genome.wustl.edu 37 X 66937348 66937348 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b X 66937348 66937348 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.2202 p.Q734H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 71 46 39.32 95 0 0.00 AR 367 genome.wustl.edu 37 X 66943614 66943614 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 66943614 66943614 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known silent c.2694 p.E898 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 36 15 29.41 41 0 0.00 ARAF 369 genome.wustl.edu 37 X 47426651 47426651 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 47426651 47426651 C G SNP ARAF ENST00000377045 human ensembl 70_37 +1 known nonsense c.896 p.S299* 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 77 18 18.95 80 0 0.00 ARAF 369 genome.wustl.edu 37 X 47428869 47428869 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47428869 47428869 G A SNP ARAF ENST00000469505 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARAF HGNC ENSG00000078061 37 25 39.68 93 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72404263 72404263 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 72404263 72404263 G A SNP ARAP1 ENST00000544958 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARAP1 HGNC ENSG00000186635 13 7 35.00 23 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72408143 72408143 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72408143 72408143 G C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known silent c.3051 p.L1017 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 117 20 14.60 154 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72408153 72408153 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72408153 72408153 G C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known missense c.3041 p.S1014C 0.994 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 105 20 16.00 136 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72408650 72408650 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 72408650 72408650 G A SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known nonsense c.2782 p.R928* 1.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 36 9 20.00 62 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72415360 72415360 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 72415360 72415360 T C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known missense c.1829 p.N610S 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 23 5 17.86 41 0 0.00 ARAP1 116985 genome.wustl.edu 37 11 72422481 72422481 + Silent SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 72422481 72422481 A G SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known silent c.1086 p.S362 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 23 4 14.81 22 0 0.00 ARAP2 116984 genome.wustl.edu 37 4 36160435 36160435 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 36160435 36160435 G A SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known missense c.2669 p.S890F 0.025 pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 14 3 17.65 36 0 0.00 ARAP2 116984 genome.wustl.edu 37 4 36212106 36212106 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 36212106 36212106 C T SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known missense c.1393 p.V465I 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 21 14 40.00 60 0 0.00 ARAP2 116984 genome.wustl.edu 37 4 36230329 36230329 + Silent SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 36230329 36230329 T C SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known silent c.780 p.P260 0.004 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 20 9 31.03 49 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141033462 141033462 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 141033462 141033462 G C SNP ARAP3 ENST00000512390 human ensembl 70_37 -1 known rna NULL NULL 0.111 - - - no_errors ARAP3 HGNC ENSG00000120318 89 11 11.00 70 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141033523 141033523 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 141033523 141033523 G C SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known silent c.4629 p.L1543 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 64 20 23.81 48 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141035268 141035268 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 141035268 141035268 G A SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known nonsense c.4030 p.Q1344* 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 29 8 21.62 48 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141036112 141036112 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 141036112 141036112 G C SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known missense c.3748 p.L1250V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 20 18 47.37 43 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141052872 141052872 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 141052872 141052872 C A SNP ARAP3 ENST00000524066 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 13 6 31.58 24 0 0.00 ARAP3 64411 genome.wustl.edu 37 5 141059987 141059987 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 141059987 141059987 C T SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known missense c.67 p.D23N 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 9 25 73.53 53 0 0.00 ARCN1 372 genome.wustl.edu 37 11 118461072 118461072 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 11 118461072 118461072 G A SNP ARCN1 ENST00000264028 human ensembl 70_37 +1 known missense c.835 p.E279K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 33 5 12.82 48 0 0.00 ARCN1 372 genome.wustl.edu 37 11 118461080 118461080 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 118461080 118461080 G C SNP ARCN1 ENST00000264028 human ensembl 70_37 +1 known missense c.843 p.K281N 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 29 21 42.00 32 0 0.00 ARCN1 372 genome.wustl.edu 37 11 118472585 118472585 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 118472585 118472585 C T SNP ARCN1 ENST00000533452 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors ARCN1 HGNC ENSG00000095139 72 33 31.43 76 0 0.00 ARCN1 372 genome.wustl.edu 37 11 118473592 118473592 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 118473592 118473592 T G SNP ARCN1 ENST00000533452 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARCN1 HGNC ENSG00000095139 20 11 34.38 59 0 0.00 ARF1 375 genome.wustl.edu 37 1 228285143 228285143 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 228285143 228285143 G A SNP ARF1 ENST00000272102 human ensembl 70_37 +1 known silent c.249 p.Q83 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 29 12 29.27 35 0 0.00 ARF3 377 genome.wustl.edu 37 12 49332475 49332475 + RNA SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 49332475 49332475 G T SNP ARF3 ENST00000485410 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARF3 HGNC ENSG00000134287 68 12 15.00 63 0 0.00 ARF4 378 genome.wustl.edu 37 3 57557237 57557238 + RNA INS - - A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 57557237 57557238 - A INS ARF4 ENST00000489843 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ARF4 HGNC ENSG00000168374 13 2 13.33 24 0 0.00 ARF4 378 genome.wustl.edu 37 3 57563077 57563077 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 57563077 57563077 C T SNP ARF4 ENST00000303436 human ensembl 70_37 -1 known missense c.296 p.R99K 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF4 HGNC ENSG00000168374 31 16 34.04 31 0 0.00 ARF4 378 genome.wustl.edu 37 3 57582435 57582435 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 57582435 57582435 G C SNP ARF4 ENST00000495354 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors ARF4 HGNC ENSG00000168374 3 17 85.00 30 0 0.00 ARF4 378 genome.wustl.edu 37 3 57582966 57582966 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 57582966 57582966 G C SNP ARF4 ENST00000489843 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARF4 HGNC ENSG00000168374 14 10 41.67 19 0 0.00 ARF5 381 genome.wustl.edu 37 7 127228576 127228576 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 127228576 127228576 C G SNP ARF5 ENST00000000233 human ensembl 70_37 +1 known silent c.24 p.L8 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF5 HGNC ENSG00000004059 31 18 36.73 63 0 0.00 ARF6 382 genome.wustl.edu 37 14 50360595 50360595 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 50360595 50360595 C T SNP ARF6 ENST00000298316 human ensembl 70_37 +1 known silent c.141 p.F47 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF6 HGNC ENSG00000165527 35 13 27.08 78 0 0.00 ARF6 382 genome.wustl.edu 37 14 50360887 50360887 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 50360887 50360887 C T SNP ARF6 ENST00000298316 human ensembl 70_37 +1 known missense c.433 p.R145W 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF6 HGNC ENSG00000165527 24 6 20.00 36 0 0.00 ARFGAP1 55738 genome.wustl.edu 37 20 61915226 61915226 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 20 61915226 61915226 G A SNP ARFGAP1 ENST00000353546 human ensembl 70_37 +1 known silent c.741 p.P247 0.988 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 51 43 45.74 92 0 0.00 ARFGAP1 55738 genome.wustl.edu 37 20 61918992 61918992 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 61918992 61918992 G A SNP ARFGAP1 ENST00000353546 human ensembl 70_37 +1 known missense c.1012 p.E338K 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 35 4 10.26 28 0 0.00 ARFGAP1 55738 genome.wustl.edu 37 20 61919221 61919221 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 61919221 61919221 G C SNP ARFGAP1 ENST00000353546 human ensembl 70_37 +1 known missense c.1241 p.W414S 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 5 9 64.29 8 0 0.00 ARFGAP2 84364 genome.wustl.edu 37 11 47187024 47187024 + RNA SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 47187024 47187024 G T SNP ARFGAP2 ENST00000395449 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARFGAP2 HGNC ENSG00000149182 44 6 12.00 45 0 0.00 ARFGAP2 84364 genome.wustl.edu 37 11 47188066 47188066 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 47188066 47188066 G A SNP ARFGAP2 ENST00000524782 human ensembl 70_37 -1 known missense c.1417 p.H473Y 0.971 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 16 9 36.00 35 0 0.00 ARFGAP3 26286 genome.wustl.edu 37 22 43213779 43213780 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 43213779 43213780 - T INS ARFGAP3 ENST00000263245 human ensembl 70_37 -1 known frame_shift_ins c.897_896 p.N299fs 0.000:0.002 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 22 11 33.33 52 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68116935 68116935 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 68116935 68116935 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.4939 p.E1647K 1.000 NULL pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 126 17 11.89 92 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68130069 68130069 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 68130069 68130069 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.4561 p.D1521N 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 35 12 25.53 79 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68139489 68139489 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 68139489 68139489 G C SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.3799 p.Q1267E 1.000 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 30 18 37.50 28 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68140257 68140257 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 68140257 68140257 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.3532 p.G1178R 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 22 19 46.34 41 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68150647 68150647 + Silent SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 68150647 68150647 G T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known silent c.3220 p.R1074 0.993 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 28 4 12.50 39 0 0.00 ARFGEF1 10565 genome.wustl.edu 37 8 68165807 68165807 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 68165807 68165807 G A SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known silent c.2577 p.I859 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 78 25 24.27 76 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47569353 47569353 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 47569353 47569353 C T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known nonsense c.535 p.Q179* 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 61 25 29.07 88 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47570311 47570311 + Missense_Mutation SNP A A T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 47570311 47570311 A T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.822 p.R274S 0.001 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 71 12 14.46 89 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47587889 47587889 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 47587889 47587889 G C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.1423 p.E475Q 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 53 7 11.67 67 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47591314 47591314 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47591314 47591314 G A SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1677 p.L559 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 37 12 24.49 38 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47591380 47591380 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 47591380 47591380 G T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1743 p.L581 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 18 3 14.29 33 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47592587 47592587 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 47592587 47592587 T C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1809 p.D603 0.002 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 35 11 23.91 47 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47592587 47592587 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 47592587 47592587 T C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1809 p.D603 0.002 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 51 13 20.31 62 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47592687 47592687 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 47592687 47592687 T G SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.1909 p.F637V 1.000 superfamily_Sec7,superfamily_ARM-type_fold,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 37 12 24.49 75 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47611012 47611012 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 47611012 47611012 G A SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.2998 p.E1000K 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 25 16 39.02 38 0 0.00 ARFGEF2 10564 genome.wustl.edu 37 20 47649562 47649562 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47649562 47649562 C G SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.5184 p.F1728L 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 64 13 16.88 50 0 0.00 ARFIP1 27236 genome.wustl.edu 37 4 153831234 153831234 + Nonsense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 4 153831234 153831234 C T SNP ARFIP1 ENST00000353617 human ensembl 70_37 +1 known nonsense c.985 p.Q329* 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP1 HGNC ENSG00000164144 47 6 11.32 60 0 0.00 ARFIP1 27236 genome.wustl.edu 37 4 153832973 153832973 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 153832973 153832973 G C SNP ARFIP1 ENST00000510497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARFIP1 HGNC ENSG00000164144 63 11 14.86 80 0 0.00 ARFIP2 23647 genome.wustl.edu 37 11 6498387 6498387 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 6498387 6498387 G A SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known missense c.982 p.R328W 1.000 NULL pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 2 17 89.47 30 0 0.00 ARFIP2 23647 genome.wustl.edu 37 11 6498963 6498963 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6498963 6498963 G A SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known silent c.855 p.F285 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 19 18 48.65 27 0 0.00 ARFIP2 23647 genome.wustl.edu 37 11 6500102 6500102 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6500102 6500102 C G SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known missense c.403 p.E135Q 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 17 16 47.06 40 0 0.00 ARGFX 503582 genome.wustl.edu 37 3 121303884 121303884 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 121303884 121303884 G A SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.341 p.R114K 0.037 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 22 13 37.14 34 0 0.00 ARGFX 503582 genome.wustl.edu 37 3 121304901 121304901 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 121304901 121304901 G C SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.402 p.K134N 0.027 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 35 15 30.00 48 0 0.00 ARGFX 503582 genome.wustl.edu 37 3 121305032 121305032 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 121305032 121305032 C T SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.533 p.S178F 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 15 12 44.44 67 0 0.00 ARGLU1 55082 genome.wustl.edu 37 13 107219979 107219979 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 107219979 107219979 C T SNP ARGLU1 ENST00000400198 human ensembl 70_37 -1 known missense c.289 p.E97K 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 30 13 30.23 35 0 0.00 ARHGAP1 392 genome.wustl.edu 37 11 46703639 46703639 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46703639 46703639 G T SNP ARHGAP1 ENST00000311956 human ensembl 70_37 -1 known silent c.411 p.L137 0.995 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 71 25 26.04 73 0 0.00 ARHGAP10 79658 genome.wustl.edu 37 4 148653506 148653506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 148653506 148653506 C G SNP ARHGAP10 ENST00000336498 human ensembl 70_37 +1 known missense c.54 p.F18L 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 35 15 30.00 44 0 0.00 ARHGAP11A 9824 genome.wustl.edu 37 15 32917801 32917801 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 32917801 32917801 G C SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.829 p.E277Q 0.936 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 45 30 40.00 63 0 0.00 ARHGAP11A 9824 genome.wustl.edu 37 15 32928987 32928987 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 32928987 32928987 G C SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.2013 p.E671D 0.161 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 71 66 48.18 113 1 0.88 ARHGAP11A 9824 genome.wustl.edu 37 15 32929146 32929146 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 32929146 32929146 G T SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.2172 p.K724N 0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 9 4 30.77 17 0 0.00 ARHGAP11B 89839 genome.wustl.edu 37 15 30936861 30936861 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 30936861 30936861 C T SNP ARHGAP11B ENST00000564902 human ensembl 70_37 +1 putative rna NULL NULL 0.172 - - - no_errors ARHGAP11B HGNC ENSG00000187951 56 21 27.27 105 0 0.00 ARHGAP12 94134 genome.wustl.edu 37 10 32096154 32096154 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 32096154 32096154 C G SNP ARHGAP12 ENST00000492028 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ARHGAP12 HGNC ENSG00000165322 26 16 38.10 23 0 0.00 ARHGAP17 55114 genome.wustl.edu 37 16 24942524 24942524 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 24942524 24942524 C T SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.2096 p.R699Q 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 33 13 28.26 34 0 0.00 ARHGAP17 55114 genome.wustl.edu 37 16 24942596 24942596 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 24942596 24942596 G A SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.2024 p.P675L 0.993 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 39 36 47.37 66 0 0.00 ARHGAP17 55114 genome.wustl.edu 37 16 24988547 24988547 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 24988547 24988547 C T SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.187 p.E63K 0.998 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 64 17 20.99 90 0 0.00 ARHGAP18 93663 genome.wustl.edu 37 6 129920086 129920087 + RNA INS - - GTGT TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 129920086 129920087 - GTGT INS ARHGAP18 ENST00000463225 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors ARHGAP18 HGNC ENSG00000146376 27 3 10.00 20 0 0.00 ARHGAP18 93663 genome.wustl.edu 37 6 129950525 129950525 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 129950525 129950525 C T SNP ARHGAP18 ENST00000275189 human ensembl 70_37 -1 known silent c.759 p.K253 0.002 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 28 25 47.17 44 0 0.00 ARHGAP18 93663 genome.wustl.edu 37 6 129959716 129959716 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 129959716 129959716 C A SNP ARHGAP18 ENST00000275189 human ensembl 70_37 -1 known missense c.375 p.E125D 0.678 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 40 7 14.89 48 0 0.00 ARHGAP19 84986 genome.wustl.edu 37 10 99018461 99018461 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 99018461 99018461 G T SNP ARHGAP19 ENST00000492211 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ARHGAP19 HGNC ENSG00000213390 3 36 92.31 41 0 0.00 ARHGAP20 57569 genome.wustl.edu 37 11 110451001 110451001 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 110451001 110451001 G T SNP ARHGAP20 ENST00000260283 human ensembl 70_37 -1 known missense c.2669 p.S890Y 1.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 26 19 42.22 84 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24874007 24874007 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 24874007 24874007 C G SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.5211 p.M1737I 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 181 48 20.96 241 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24874805 24874805 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 24874805 24874805 G T SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known silent c.4413 p.I1471 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 171 59 25.65 287 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24880833 24880833 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 24880833 24880833 C G SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.3985 p.E1329Q 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 48 26 35.14 57 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24889722 24889722 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 24889722 24889722 C G SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.2985 p.L995F 0.795 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 46 15 24.19 70 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24909044 24909044 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 24909044 24909044 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known nonsense c.1780 p.Q594* 0.051 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 52 16 23.53 28 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24909044 24909044 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 24909044 24909044 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known nonsense c.1780 p.Q594* 0.051 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 72 19 20.43 217 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24909833 24909833 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 24909833 24909833 G A SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.991 p.H331Y 0.986 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 105 23 17.97 183 0 0.00 ARHGAP21 57584 genome.wustl.edu 37 10 24923951 24923951 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 24923951 24923951 C T SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.350 p.G117E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 25 21 44.68 71 0 0.00 ARHGAP22 58504 genome.wustl.edu 37 10 49791043 49791043 + Silent SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 49791043 49791043 C G SNP ARHGAP22 ENST00000417912 human ensembl 70_37 -1 known silent c.189 p.G63 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 31 5 13.89 52 0 0.00 ARHGAP23 57636 genome.wustl.edu 37 17 36619412 36619412 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36619412 36619412 C T SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known nonsense c.403 p.Q135* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 26 26 50.00 53 0 0.00 ARHGAP23 57636 genome.wustl.edu 37 17 36654048 36654048 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 36654048 36654048 G A SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known missense c.3298 p.E1100K 0.020 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 126 18 12.50 176 0 0.00 ARHGAP23 57636 genome.wustl.edu 37 17 36656838 36656838 + Splice_Site SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 36656838 36656838 G C SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known splice_site c.3416-1 e23-1 1.000 - - - no_errors ARHGAP23 HGNC ENSG00000225485 22 12 35.29 40 0 0.00 ARHGAP24 83478 genome.wustl.edu 37 4 86844842 86844842 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 86844842 86844842 C T SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known missense c.310 p.L104F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 24 21 46.67 51 0 0.00 ARHGAP24 83478 genome.wustl.edu 37 4 86916229 86916229 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 86916229 86916229 G A SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known silent c.1422 p.T474 0.526 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 86 16 15.69 127 0 0.00 ARHGAP25 9938 genome.wustl.edu 37 2 69040466 69040466 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 69040466 69040466 G A SNP ARHGAP25 ENST00000409202 human ensembl 70_37 +1 known missense c.722 p.R241Q 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 4 5 55.56 30 0 0.00 ARHGAP27 201176 genome.wustl.edu 37 17 43473916 43473916 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43473916 43473916 C G SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known missense c.2110 p.E704Q 0.980 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 5 6 54.55 11 0 0.00 ARHGAP27 201176 genome.wustl.edu 37 17 43474289 43474289 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43474289 43474289 C T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known silent c.1944 p.P648 0.000 NULL pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 78 18 18.75 66 0 0.00 ARHGAP27 201176 genome.wustl.edu 37 17 43482441 43482441 + Nonsense_Mutation SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 43482441 43482441 G T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known nonsense c.1097 p.S366* 0.000 NULL pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 66 37 35.92 85 0 0.00 ARHGAP27 201176 genome.wustl.edu 37 17 43483117 43483117 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 43483117 43483117 G A SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known silent c.990 p.D330 0.998 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 85 27 24.11 111 0 0.00 ARHGAP27 201176 genome.wustl.edu 37 17 43507519 43507519 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43507519 43507519 C T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known missense c.127 p.E43K 0.994 superfamily_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 17 12 41.38 32 0 0.00 ARHGAP28 79822 genome.wustl.edu 37 18 6873519 6873519 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 6873519 6873519 G C SNP ARHGAP28 ENST00000400091 human ensembl 70_37 +1 known missense c.1066 p.D356H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 35 25 41.67 63 0 0.00 ARHGAP28 79822 genome.wustl.edu 37 18 6894870 6894870 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 6894870 6894870 T G SNP ARHGAP28 ENST00000400091 human ensembl 70_37 +1 known missense c.1885 p.S629A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 24 8 25.00 55 0 0.00 ARHGAP28 79822 genome.wustl.edu 37 18 6912104 6912104 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 18 6912104 6912104 G A SNP ARHGAP28 ENST00000314319 human ensembl 70_37 +1 known missense c.1664 p.R555H 0.739 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 11 7 38.89 14 0 0.00 ARHGAP29 9411 genome.wustl.edu 37 1 94654878 94654878 + Missense_Mutation SNP T T G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 94654878 94654878 T G SNP ARHGAP29 ENST00000260526 human ensembl 70_37 -1 known missense c.1470 p.Q490H 0.001 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 14 3 17.65 27 0 0.00 ARHGAP30 257106 genome.wustl.edu 37 1 161018122 161018122 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161018122 161018122 C T SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.2689 p.E897K 0.324 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 84 20 19.23 68 0 0.00 ARHGAP30 257106 genome.wustl.edu 37 1 161018560 161018560 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161018560 161018560 C T SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.2251 p.E751K 0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 437 83 15.96 385 0 0.00 ARHGAP30 257106 genome.wustl.edu 37 1 161021240 161021240 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161021240 161021240 G A SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known silent c.1284 p.L428 0.996 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 96 91 48.66 144 0 0.00 ARHGAP30 257106 genome.wustl.edu 37 1 161022560 161022560 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 161022560 161022560 G A SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.692 p.S231L 0.871 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 27 4 12.50 28 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119099772 119099772 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 119099772 119099772 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.370 p.E124K 0.996 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 44 12 21.43 31 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119120696 119120696 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119120696 119120696 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1097 p.R366Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 12 12 50.00 35 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119120821 119120821 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 119120821 119120821 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1222 p.E408K 0.456 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 66 8 10.81 71 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119132712 119132712 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 119132712 119132712 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1936 p.D646N 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 17 14 45.16 19 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119133187 119133187 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 119133187 119133187 C T SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.2411 p.P804L 0.012 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 25 15 37.50 30 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119133738 119133738 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 119133738 119133738 C T SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known nonsense c.2962 p.Q988* 0.481 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 39 7 15.22 58 0 0.00 ARHGAP31 57514 genome.wustl.edu 37 3 119134599 119134599 + Missense_Mutation SNP G G T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 3 119134599 119134599 G T SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.3823 p.V1275L 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 23 18 43.90 49 0 0.00 ARHGAP32 9743 genome.wustl.edu 37 11 128841051 128841051 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 128841051 128841051 G A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known nonsense c.4015 p.Q1339* 0.118 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 18 9 33.33 28 0 0.00 ARHGAP32 9743 genome.wustl.edu 37 11 128851411 128851411 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 128851411 128851411 G T SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known missense c.1638 p.F546L 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 26 13 33.33 28 0 0.00 ARHGAP32 9743 genome.wustl.edu 37 11 128858006 128858006 + Nonsense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 128858006 128858006 G A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known nonsense c.1168 p.Q390* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 28 13 31.71 34 0 0.00 ARHGAP32 9743 genome.wustl.edu 37 11 128936741 128936741 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 128936741 128936741 C A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known missense c.512 p.R171I 1.000 pfam_Phox,superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 7 4 36.36 23 0 0.00 ARHGAP33 115703 genome.wustl.edu 37 19 36270768 36270768 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36270768 36270768 G A SNP ARHGAP33 ENST00000221905 human ensembl 70_37 +1 known missense c.616 p.A206T 0.072 NULL pfam_Phox,superfamily_Phox - no_errors ARHGAP33 HGNC ENSG00000004777 23 8 25.81 33 0 0.00 ARHGAP33 115703 genome.wustl.edu 37 19 36271142 36271142 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 36271142 36271142 C T SNP ARHGAP33 ENST00000007510 human ensembl 70_37 +1 known silent c.531 p.L177 0.986 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 57 10 14.93 89 0 0.00 ARHGAP33 115703 genome.wustl.edu 37 19 36277396 36277396 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36277396 36277396 G A SNP ARHGAP33 ENST00000007510 human ensembl 70_37 +1 known missense c.2024 p.C675Y 0.999 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 41 25 37.88 49 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47421954 47421954 + Missense_Mutation SNP G G C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 47421954 47421954 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.22 p.D8H 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 37 26 40.62 54 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47422099 47422099 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 47422099 47422099 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.167 p.S56F 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 80 24 23.08 97 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47422775 47422775 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 47422775 47422775 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known silent c.843 p.V281 1.000 smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 47 6 11.32 52 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47423319 47423319 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 47423319 47423319 G T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.1387 p.D463Y 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 26 18 40.91 62 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47423758 47423758 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 47423758 47423758 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.1826 p.A609V 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 33 7 17.50 39 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47423967 47423967 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 47423967 47423967 G T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known nonsense c.2035 p.E679* 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 18 15 45.45 27 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47425167 47425167 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 47425167 47425167 C G SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.3235 p.Q1079E 0.047 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 33 9 21.43 36 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47503618 47503618 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 47503618 47503618 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.4173 p.M1391I 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 25 11 30.56 57 0 0.00 ARHGAP35 2909 genome.wustl.edu 37 19 47503760 47503760 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 47503760 47503760 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.4315 p.R1439W 0.999 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 71 32 30.77 52 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130215717 130215717 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 130215717 130215717 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known silent c.78 p.S26 0.081 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 69 23 24.73 82 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130217839 130217839 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 130217839 130217839 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.451 p.R151W 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 114 28 19.72 127 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130218322 130218322 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 130218322 130218322 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.689 p.P230L 0.995 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 57 29 33.72 75 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130219941 130219941 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 130219941 130219941 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1159 p.L387F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 20 12 37.50 81 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130220320 130220320 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 130220320 130220320 G A SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known silent c.1299 p.Q433 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 59 18 23.08 48 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130222682 130222682 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 130222682 130222682 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1567 p.P523S 0.248 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 43 24 35.82 63 0 0.00 ARHGAP36 158763 genome.wustl.edu 37 X 130222712 130222712 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 130222712 130222712 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1597 p.P533S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 103 40 27.78 41 0 0.00 ARHGAP39 80728 genome.wustl.edu 37 8 145772651 145772651 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 145772651 145772651 C G SNP ARHGAP39 ENST00000377307 human ensembl 70_37 -1 known missense c.1819 p.E607Q 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 81 16 16.49 61 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153176375 153176375 + Splice_Site SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 153176375 153176375 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known splice_site c.1681+1 e14+1 1.000 - - - no_errors ARHGAP4 HGNC ENSG00000089820 13 6 31.58 19 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153176611 153176611 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 153176611 153176611 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.1575 p.E525D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 53 27 33.75 73 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153178166 153178166 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 153178166 153178166 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.1530 p.E510D 0.997 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 34 40 54.05 98 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153186187 153186187 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153186187 153186187 C A SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known nonsense c.574 p.E192* 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 111 29 20.71 94 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153186238 153186238 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153186238 153186238 G C SNP ARHGAP4 ENST00000404127 human ensembl 70_37 -1 known nonsense c.551 p.S184* 0.911 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors ARHGAP4 HGNC ENSG00000089820 54 57 50.89 112 0 0.00 ARHGAP4 393 genome.wustl.edu 37 X 153187188 153187188 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153187188 153187188 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 4 4 50.00 9 0 0.00 ARHGAP40 343578 genome.wustl.edu 37 20 37278408 37278408 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 37278408 37278408 C G SNP ARHGAP40 ENST00000373345 human ensembl 70_37 +1 known missense c.1786 p.R596G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 39 10 20.41 37 0 0.00 ARHGAP42 143872 genome.wustl.edu 37 11 100792321 100792321 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 100792321 100792321 G A SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 2 19 90.48 30 0 0.00 ARHGAP42 143872 genome.wustl.edu 37 11 100803930 100803930 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 100803930 100803930 G C SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.641 p.G214A 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 53 35 39.77 64 0 0.00 ARHGAP42 143872 genome.wustl.edu 37 11 100845331 100845331 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 100845331 100845331 G C SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.1852 p.D618H 0.998 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 276 47 14.55 74 0 0.00 ARHGAP44 9912 genome.wustl.edu 37 17 12844388 12844388 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 12844388 12844388 G A SNP ARHGAP44 ENST00000379672 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 38 14 26.92 39 0 0.00 ARHGAP44 9912 genome.wustl.edu 37 17 12893363 12893363 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 12893363 12893363 G C SNP ARHGAP44 ENST00000379672 human ensembl 70_37 +1 known missense c.2332 p.D778H 0.977 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 73 19 20.65 109 0 0.00 ARHGAP5 394 genome.wustl.edu 37 14 32560284 32560284 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 32560284 32560284 C T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known nonsense c.409 p.Q137* 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 42 14 25.00 62 0 0.00 ARHGAP5 394 genome.wustl.edu 37 14 32560776 32560776 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 32560776 32560776 C T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.901 p.P301S 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 36 21 36.84 69 0 0.00 ARHGAP5 394 genome.wustl.edu 37 14 32615493 32615493 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 32615493 32615493 G T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.3890 p.R1297L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 28 5 15.15 58 0 0.00 ARHGAP5 394 genome.wustl.edu 37 14 32615493 32615493 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 32615493 32615493 G T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.3890 p.R1297L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 54 14 20.59 38 0 0.00 ARHGAP5 394 genome.wustl.edu 37 14 32619107 32619107 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 32619107 32619107 G C SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known splice_site c.3944-1 e4-1 1.000 - - - no_errors ARHGAP5 HGNC ENSG00000100852 25 19 43.18 46 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11156998 11156998 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 11156998 11156998 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.2910 p.P970 0.072 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 29 12 29.27 49 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11157357 11157357 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 11157357 11157357 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2551 p.E851K 0.088 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 33 14 29.79 16 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11157630 11157630 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 11157630 11157630 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2278 p.E760K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 22 9 28.12 36 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11162183 11162183 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 11162183 11162183 C G SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2093 p.R698T 0.953 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 51 18 26.09 59 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11187767 11187767 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 11187767 11187767 G T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1667 p.T556N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 125 25 16.67 174 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11204449 11204449 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 11204449 11204449 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 28 8 22.22 70 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11204524 11204524 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 11204524 11204524 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1105 p.D369N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 12 15 55.56 32 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11206923 11206923 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 11206923 11206923 G C SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.1002 p.L334 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 76 13 14.44 90 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11207064 11207064 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 11207064 11207064 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.861 p.V287 0.988 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 55 23 29.49 127 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11207091 11207091 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 11207091 11207091 C A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.834 p.Q278H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 42 18 29.51 119 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11308548 11308548 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 11308548 11308548 G A SNP ARHGAP6 ENST00000380732 human ensembl 70_37 -1 known silent c.639 p.S213 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 114 27 19.15 102 0 0.00 ARHGAP6 395 genome.wustl.edu 37 X 11682476 11682476 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 11682476 11682476 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.473 p.S158L 0.504 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 30 9 23.08 53 0 0.00 ARHGAP8 23779 genome.wustl.edu 37 22 45128203 45128203 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 45128203 45128203 G C SNP ARHGAP8 ENST00000517296 human ensembl 70_37 +1 known missense c.487 p.E163Q 1.000 pfam_HbrB pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 46 22 32.35 44 0 0.00 ARHGAP8 23779 genome.wustl.edu 37 22 45210624 45210624 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45210624 45210624 G A SNP ARHGAP8 ENST00000447333 human ensembl 70_37 +1 known missense c.433 p.E145K 1.000 NULL superfamily_CRAL-TRIO_dom - no_errors ARHGAP8 HGNC ENSG00000241484 27 30 52.63 47 0 0.00 ARHGAP9 64333 genome.wustl.edu 37 12 57867943 57867943 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 57867943 57867943 C T SNP ARHGAP9 ENST00000356411 human ensembl 70_37 -1 known silent c.1857 p.L619 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 44 12 21.43 62 0 0.00 ARHGAP9 64333 genome.wustl.edu 37 12 57871325 57871325 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57871325 57871325 G T SNP ARHGAP9 ENST00000356411 human ensembl 70_37 -1 known missense c.673 p.P225T 0.996 superfamily_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 44 19 30.16 37 0 0.00 ARHGAP9 64333 genome.wustl.edu 37 12 57882491 57882491 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57882491 57882491 C G SNP ARHGAP9 ENST00000550288 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP9 HGNC ENSG00000123329 58 30 34.09 77 0 0.00 ARHGDIA 396 genome.wustl.edu 37 17 79827245 79827245 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 79827245 79827245 C A SNP ARHGDIA ENST00000269321 human ensembl 70_37 -1 known silent c.312 p.L104 0.999 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 122 23 15.86 148 0 0.00 ARHGDIA 396 genome.wustl.edu 37 17 79827732 79827732 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 79827732 79827732 G C SNP ARHGDIA ENST00000269321 human ensembl 70_37 -1 known silent c.75 p.V25 0.996 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 51 9 15.00 68 0 0.00 ARHGEF1 9138 genome.wustl.edu 37 19 42396558 42396558 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 42396558 42396558 C T SNP ARHGEF1 ENST00000596957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC ENSG00000076928 28 24 46.15 41 0 0.00 ARHGEF1 9138 genome.wustl.edu 37 19 42396558 42396558 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 42396558 42396558 C T SNP ARHGEF1 ENST00000596957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC ENSG00000076928 48 35 42.17 21 0 0.00 ARHGEF1 9138 genome.wustl.edu 37 19 42411341 42411341 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 42411341 42411341 G A SNP ARHGEF1 ENST00000378152 human ensembl 70_37 +1 putative missense c.2623 p.E875K 0.622 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 11 23 67.65 35 0 0.00 ARHGEF10 9639 genome.wustl.edu 37 8 1774297 1774297 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 1774297 1774297 C T SNP ARHGEF10 ENST00000398564 human ensembl 70_37 +1 known silent c.21 p.L7 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 14 18 56.25 51 0 0.00 ARHGEF10 9639 genome.wustl.edu 37 8 1876769 1876769 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 1876769 1876769 G A SNP ARHGEF10 ENST00000398564 human ensembl 70_37 +1 known silent c.2949 p.V983 0.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 17 10 37.04 35 0 0.00 ARHGEF10L 55160 genome.wustl.edu 37 1 17914042 17914042 + Missense_Mutation SNP A A G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 17914042 17914042 A G SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.125 p.D42G 0.998 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 20 19 48.72 43 0 0.00 ARHGEF10L 55160 genome.wustl.edu 37 1 17964493 17964493 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 17964493 17964493 T C SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2038 p.Y680H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 13 2 12.50 18 0 0.00 ARHGEF10L 55160 genome.wustl.edu 37 1 17966704 17966704 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 17966704 17966704 C T SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2179 p.R727C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 46 14 23.33 65 0 0.00 ARHGEF10L 55160 genome.wustl.edu 37 1 17975110 17975110 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 17975110 17975110 C G SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2334 p.F778L 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 43 10 18.87 49 0 0.00 ARHGEF10L 55160 genome.wustl.edu 37 1 18023599 18023599 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 18023599 18023599 C T SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known silent c.3564 p.L1188 0.887 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 11 3 21.43 22 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156907208 156907208 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 156907208 156907208 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known nonsense c.4273 p.Q1425* 0.330 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 109 16 12.80 141 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156907208 156907208 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 156907208 156907208 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known nonsense c.4273 p.Q1425* 0.330 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 41 5 10.87 31 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156909391 156909391 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156909391 156909391 C T SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.4045 p.E1349K 0.121 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 41 18 30.51 66 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156915901 156915901 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156915901 156915901 G C SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.2748 p.I916M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 20 16 44.44 25 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156916478 156916478 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156916478 156916478 C T SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known silent c.2670 p.E890 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 56 14 20.00 71 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156916522 156916522 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 156916522 156916522 G C SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.2626 p.Q876E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 43 19 30.65 65 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156921453 156921453 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156921453 156921453 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1837 p.E613Q 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 29 23 44.23 43 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156927597 156927597 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156927597 156927597 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1513 p.E505Q 0.999 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 85 10 10.53 78 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156928604 156928604 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 156928604 156928604 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1432 p.D478H 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 25 15 37.50 29 0 0.00 ARHGEF11 9826 genome.wustl.edu 37 1 156948141 156948141 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 156948141 156948141 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.365 p.S122F 1.000 superfamily_PDZ,smart_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 32 10 23.81 30 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120291541 120291541 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 120291541 120291541 C T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.222 p.F74 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 8 38 82.61 58 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120295078 120295078 + Silent SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 120295078 120295078 T G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.303 p.T101 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 28 10 26.32 38 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120300164 120300164 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 120300164 120300164 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.544 p.V182I 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 7 3 30.00 17 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120312487 120312487 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120312487 120312487 C G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.1107 p.F369L 0.948 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 10 7 41.18 31 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120312840 120312840 + Nonsense_Mutation SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 120312840 120312840 A T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.1174 p.K392* 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 29 10 25.64 46 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120312840 120312840 + Nonsense_Mutation SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 120312840 120312840 A T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.1174 p.K392* 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 34 7 17.07 33 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120318967 120318967 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120318967 120318967 C G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.1590 p.L530 0.997 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 19 20 51.28 59 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120327884 120327884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120327884 120327884 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.2057 p.R686H 0.997 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 33 14 29.79 67 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120328793 120328793 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120328793 120328793 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.2173 p.D725N 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 23 22 48.89 29 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120348212 120348212 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120348212 120348212 C A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.3452 p.S1151* 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 16 10 38.46 33 0 0.00 ARHGEF12 23365 genome.wustl.edu 37 11 120350709 120350709 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 120350709 120350709 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.3750 p.L1250 0.352 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 17 16 48.48 78 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8215677 8215677 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 8215677 8215677 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.320 p.S107C 0.262 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 30 43 58.90 66 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8216307 8216307 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8216307 8216307 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known silent c.669 p.L223 0.961 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 25 11 30.56 57 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8216548 8216548 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 8216548 8216548 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.910 p.L304V 0.012 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 37 27 42.19 52 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8218800 8218800 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 8218800 8218800 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.1329 p.F443L 0.885 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 13 6 30.00 16 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8222168 8222168 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 8222168 8222168 G A SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.1973 p.R658H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 35 14 28.57 37 0 0.00 ARHGEF15 22899 genome.wustl.edu 37 17 8222400 8222400 + Silent SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 8222400 8222400 A G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known silent c.2109 p.G703 0.942 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 15 3 16.67 27 0 0.00 ARHGEF16 27237 genome.wustl.edu 37 1 3389974 3389974 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 3389974 3389974 T C SNP ARHGEF16 ENST00000378378 human ensembl 70_37 +1 known missense c.1193 p.F398S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 49 14 22.22 65 0 0.00 ARHGEF16 27237 genome.wustl.edu 37 1 3392570 3392570 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 3392570 3392570 G C SNP ARHGEF16 ENST00000378378 human ensembl 70_37 +1 known missense c.1417 p.E473Q 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 29 14 32.56 40 0 0.00 ARHGEF17 9828 genome.wustl.edu 37 11 73020642 73020642 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 73020642 73020642 C T SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.959 p.S320L 0.015 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 25 16 39.02 26 0 0.00 ARHGEF17 9828 genome.wustl.edu 37 11 73021308 73021308 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 73021308 73021308 G A SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.1625 p.R542Q 0.957 superfamily_Vinculin/catenin pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 28 38 57.58 56 0 0.00 ARHGEF17 9828 genome.wustl.edu 37 11 73021844 73021844 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 73021844 73021844 G A SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.2161 p.E721K 0.994 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 26 15 36.59 52 0 0.00 ARHGEF18 23370 genome.wustl.edu 37 19 7527213 7527213 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 7527213 7527213 G C SNP ARHGEF18 ENST00000359920 human ensembl 70_37 +1 known missense c.2064 p.M688I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 14 20 58.82 64 0 0.00 ARHGEF18 23370 genome.wustl.edu 37 19 7528832 7528832 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 7528832 7528832 C T SNP ARHGEF18 ENST00000359920 human ensembl 70_37 +1 known missense c.2200 p.P734S 0.014 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 51 38 42.70 71 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16528973 16528973 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16528973 16528973 G A SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.2004 p.F668 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 94 39 29.10 93 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16528979 16528979 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16528979 16528979 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.1998 p.H666Q 0.997 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 89 39 30.23 93 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16534513 16534513 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16534513 16534513 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.620 p.S207C 0.992 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 61 21 25.30 67 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16534646 16534646 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16534646 16534646 C A SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.487 p.G163C 0.549 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 51 42 39.62 56 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16535286 16535286 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 16535286 16535286 C T SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.264 p.E88 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 35 21 37.50 33 0 0.00 ARHGEF19 128272 genome.wustl.edu 37 1 16535523 16535523 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16535523 16535523 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.27 p.L9 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 28 24 46.15 55 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155917026 155917026 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 155917026 155917026 G C SNP ARHGEF2 ENST00000470541 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARHGEF2 HGNC ENSG00000116584 19 15 44.12 25 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155917797 155917797 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155917797 155917797 C G SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.2900 p.R967T 0.996 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 102 30 22.73 80 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155920934 155920934 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 155920934 155920934 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.2392 p.P798S 0.811 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 4 7 63.64 10 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155931936 155931936 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 155931936 155931936 C T SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.1182 p.K394 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 102 37 26.43 153 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155932738 155932738 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155932738 155932738 G C SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.964 p.L322V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 170 33 16.26 169 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155932757 155932757 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 155932757 155932757 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.945 p.V315 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 63 7 10.00 44 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155932919 155932919 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 155932919 155932919 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.783 p.L261 0.997 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 38 10 20.83 29 0 0.00 ARHGEF2 9181 genome.wustl.edu 37 1 155934786 155934786 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155934786 155934786 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.720 p.V240 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 166 27 13.99 155 0 0.00 ARHGEF28 64283 genome.wustl.edu 37 5 73142140 73142140 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 73142140 73142140 C G SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known missense c.1475 p.S492C 0.197 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 57 19 25.00 51 0 0.00 ARHGEF28 64283 genome.wustl.edu 37 5 73153511 73153511 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 73153511 73153511 C T SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.1821 p.I607 0.982 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 33 10 23.26 24 0 0.00 ARHGEF28 64283 genome.wustl.edu 37 5 73183492 73183492 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 73183492 73183492 C A SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.3375 p.I1125 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 23 14 37.84 70 0 0.00 ARHGEF28 64283 genome.wustl.edu 37 5 73236769 73236769 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 73236769 73236769 G A SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.5127 p.P1709 0.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 5 25 83.33 37 0 0.00 ARHGEF28 64283 genome.wustl.edu 37 5 73236812 73236812 + Missense_Mutation SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 73236812 73236812 G C SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known missense c.5170 p.A1724P 0.001 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 24 21 46.67 21 0 0.00 ARHGEF3 50650 genome.wustl.edu 37 3 56763299 56763299 + Nonstop_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 56763299 56763299 C G SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known nonstop c.1676 p.*559S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 42 21 33.33 74 0 0.00 ARHGEF3 50650 genome.wustl.edu 37 3 56766438 56766438 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 56766438 56766438 G A SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known silent c.1152 p.F384 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 81 24 22.86 120 0 0.00 ARHGEF3 50650 genome.wustl.edu 37 3 56787552 56787552 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 56787552 56787552 C T SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known missense c.514 p.D172N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 28 13 31.71 46 0 0.00 ARHGEF3 50650 genome.wustl.edu 37 3 56787559 56787559 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 56787559 56787559 C G SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known missense c.507 p.L169F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 27 13 32.50 47 0 0.00 ARHGEF33 100271715 genome.wustl.edu 37 2 39156914 39156914 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39156914 39156914 A C SNP ARHGEF33 ENST00000398800 human ensembl 70_37 +1 known missense c.305 p.Q102P 1.000 superfamily_Prefoldin pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ENSG00000214694 6 12 66.67 21 0 0.00 ARHGEF33 100271715 genome.wustl.edu 37 2 39185251 39185251 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 39185251 39185251 G T SNP ARHGEF33 ENST00000398800 human ensembl 70_37 +1 known missense c.1447 p.G483C 0.999 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ENSG00000214694 53 26 32.91 51 0 0.00 ARHGEF37 389337 genome.wustl.edu 37 5 148977374 148977374 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 148977374 148977374 G A SNP ARHGEF37 ENST00000333677 human ensembl 70_37 +1 known silent c.42 p.G14 0.008 superfamily_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 16 12 42.86 31 0 0.00 ARHGEF37 389337 genome.wustl.edu 37 5 149008510 149008510 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 149008510 149008510 C G SNP ARHGEF37 ENST00000333677 human ensembl 70_37 +1 known missense c.1799 p.S600C 0.008 superfamily_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 34 6 15.00 20 0 0.00 ARHGEF38 54848 genome.wustl.edu 37 4 106566402 106566402 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 4 106566402 106566402 G A SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative silent c.732 p.V244 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 41 24 36.92 47 0 0.00 ARHGEF38 54848 genome.wustl.edu 37 4 106580237 106580237 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106580237 106580237 G A SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative silent c.1260 p.L420 0.976 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 50 27 35.06 47 0 0.00 ARHGEF38 54848 genome.wustl.edu 37 4 106598933 106598933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106598933 106598933 C G SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative missense c.2173 p.Q725E 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 34 27 44.26 38 0 0.00 ARHGEF39 84904 genome.wustl.edu 37 9 35662192 35662192 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 35662192 35662192 G A SNP ARHGEF39 ENST00000378387 human ensembl 70_37 -1 known silent c.976 p.L326 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 9 15 62.50 25 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131672828 131672828 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131672828 131672828 C G SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.319 p.L107V 0.001 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 36 26 41.94 36 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131673433 131673433 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 131673433 131673433 G C SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.924 p.Q308H 0.914 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 35 15 30.00 67 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131673587 131673587 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 131673587 131673587 G C SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.1078 p.E360Q 0.000 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 19 4 17.39 15 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131674361 131674361 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 131674361 131674361 C T SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.1852 p.R618C 0.002 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 9 7 43.75 10 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131797983 131797983 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 131797983 131797983 G T SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known silent c.1074 p.L358 0.993 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 16 4 20.00 20 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131798817 131798817 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 131798817 131798817 G A SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known silent c.1119 p.Q373 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 9 7 43.75 18 0 0.00 ARHGEF4 50649 genome.wustl.edu 37 2 131798860 131798860 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 131798860 131798860 G A SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known missense c.1162 p.E388K 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 202 42 17.21 243 0 0.00 ARHGEF40 55701 genome.wustl.edu 37 14 21542609 21542609 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 21542609 21542609 C T SNP ARHGEF40 ENST00000298694 human ensembl 70_37 +1 known silent c.720 p.G240 0.998 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 26 13 33.33 39 0 0.00 ARHGEF40 55701 genome.wustl.edu 37 14 21549035 21549035 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21549035 21549035 C T SNP ARHGEF40 ENST00000298694 human ensembl 70_37 +1 known missense c.2500 p.R834C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 40 14 25.93 64 0 0.00 ARHGEF5 7984 genome.wustl.edu 37 7 144059772 144059772 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 7 144059772 144059772 G A SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.10 p.E4K 0.995 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 49 7 12.50 73 0 0.00 ARHGEF5 7984 genome.wustl.edu 37 7 144059775 144059775 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 7 144059775 144059775 G A SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.13 p.E5K 0.986 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 50 7 12.28 73 0 0.00 ARHGEF5 7984 genome.wustl.edu 37 7 144060152 144060152 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 144060152 144060152 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.390 p.Q130H 0.002 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 24 6 20.00 26 0 0.00 ARHGEF5 7984 genome.wustl.edu 37 7 144060156 144060156 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 144060156 144060156 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.394 p.E132Q 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 47 10 17.54 34 0 0.00 ARHGEF5 7984 genome.wustl.edu 37 7 144060304 144060304 + Missense_Mutation SNP G G C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 7 144060304 144060304 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.542 p.R181T 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 204 31 13.19 180 0 0.00 ARHGEF6 9459 genome.wustl.edu 37 X 135762923 135762923 + Silent SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 135762923 135762923 G T SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known silent c.1671 p.S557 0.945 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 69 15 17.86 72 0 0.00 ARHGEF6 9459 genome.wustl.edu 37 X 135763011 135763011 + Missense_Mutation SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 135763011 135763011 A G SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known missense c.1583 p.V528A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 33 4 10.81 34 0 0.00 ARHGEF6 9459 genome.wustl.edu 37 X 135763034 135763034 + Silent SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 135763034 135763034 A G SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known silent c.1560 p.G520 0.025 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 49 11 18.03 69 0 0.00 ARHGEF7 8874 genome.wustl.edu 37 13 111857660 111857660 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 111857660 111857660 C G SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known missense c.340 p.Q114E 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 59 14 19.18 64 0 0.00 ARHGEF7 8874 genome.wustl.edu 37 13 111870159 111870159 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 13 111870159 111870159 G A SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known nonsense c.665 p.W222* 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 50 6 10.71 74 0 0.00 ARHGEF7 8874 genome.wustl.edu 37 13 111918015 111918015 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111918015 111918015 C T SNP ARHGEF7 ENST00000544132 human ensembl 70_37 +1 known missense c.17 p.S6L 0.018 NULL superfamily_DH-domain - no_errors ARHGEF7 HGNC ENSG00000102606 18 10 35.71 20 0 0.00 ARHGEF7 8874 genome.wustl.edu 37 13 111927125 111927125 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 111927125 111927125 C T SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known silent c.1323 p.F441 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 51 26 33.77 82 0 0.00 ARHGEF7 8874 genome.wustl.edu 37 13 111935688 111935688 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 111935688 111935688 C T SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known missense c.1991 p.S664L 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 3 7 70.00 18 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62863882 62863882 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 62863882 62863882 C T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known silent c.1347 p.V449 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 28 4 12.50 65 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62885882 62885882 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 62885882 62885882 C G SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.940 p.D314H 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 21 19 47.50 38 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62898257 62898257 + Missense_Mutation SNP A A T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 62898257 62898257 A T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.757 p.L253M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 20 13 39.39 43 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62917102 62917102 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 62917102 62917102 A C SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.464 p.I155S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 25 6 19.35 42 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62944444 62944444 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 62944444 62944444 C T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.157 p.E53K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 66 14 17.50 68 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 62974366 62974366 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 62974366 62974366 C T SNP ARHGEF9 ENST00000495564 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARHGEF9 HGNC ENSG00000131089 16 8 33.33 18 0 0.00 ARHGEF9 23229 genome.wustl.edu 37 X 63005020 63005020 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 63005020 63005020 C T SNP ARHGEF9 ENST00000437457 human ensembl 70_37 -1 known silent c.6 p.Q2 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 107 70 39.55 123 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27057661 27057661 + Nonsense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 1 27057661 27057661 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1369 p.Q457* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 36 31 46.27 85 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27057742 27057742 + Frame_Shift_Del DEL C C - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 27057742 27057742 C - DEL ARID1A ENST00000324856 human ensembl 70_37 +1 known frame_shift_del c.1450 p.Y485fs 0.694 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 34 14 29.17 125 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27057820 27057820 + Nonsense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 27057820 27057820 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1528 p.Q510* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 33 17 33.33 123 1 0.81 ARID1A 8289 genome.wustl.edu 37 1 27057981 27057982 + Frame_Shift_Ins INS - - CAACC TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 27057981 27057982 - CAACC INS ARID1A ENST00000324856 human ensembl 70_37 +1 known frame_shift_ins c.1689_1690 p.Q565fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 34 12 26.09 59 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27057988 27057988 + Nonsense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 27057988 27057988 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1696 p.Q566* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 12 48 78.69 45 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27059194 27059194 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27059194 27059194 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1831 p.Q611* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 73 23 23.96 85 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27088756 27088756 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 27088756 27088756 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.2365 p.Q789* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 38 13 25.49 57 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27089730 27089730 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 27089730 27089730 G C SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.2686 p.E896Q 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 31 5 13.89 26 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27092778 27092778 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27092778 27092778 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known silent c.2799 p.G933 0.980 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 66 21 24.14 85 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27094341 27094341 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 27094341 27094341 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.3049 p.E1017K 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 37 30 44.78 67 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27099314 27099314 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27099314 27099314 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.3551 p.S1184L 0.998 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 28 6 17.65 23 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100152 27100152 + Frame_Shift_Del DEL G G - TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 27100152 27100152 G - DEL ARID1A ENST00000324856 human ensembl 70_37 +1 known frame_shift_del c.3948 p.M1318fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 28 10 26.32 28 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 27100182 27100184 GCA - DEL ARID1A ENST00000324856 human ensembl 70_37 +1 known in_frame_del c.3978_3980 p.Q1330in_frame_del 0.986:0.981:0.931 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 27 3 10.00 33 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100297 27100297 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27100297 27100297 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.4009 p.D1337N 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 69 27 28.12 63 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 27100375 27100375 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4087 p.Q1363* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 25 13 34.21 25 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 27100375 27100375 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4087 p.Q1363* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 84 39 31.71 183 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27100988 27100988 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27100988 27100988 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4270 p.Q1424* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 81 24 22.64 95 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 27106354 27106354 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.5965 p.R1989* 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 22 8 26.67 45 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27106364 27106364 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 27106364 27106364 C A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.5975 p.S1992* 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 17 13 43.33 38 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27106648 27106648 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 27106648 27106648 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.6259 p.G2087R 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 27 14 34.15 33 0 0.00 ARID1A 8289 genome.wustl.edu 37 1 27106648 27106648 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 27106648 27106648 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.6259 p.G2087R 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 97 46 32.17 138 0 0.00 ARID1B 57492 genome.wustl.edu 37 6 157405973 157405973 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 157405973 157405973 C T SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known missense c.2176 p.P726S 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 27 17 38.64 32 0 0.00 ARID1B 57492 genome.wustl.edu 37 6 157496045 157496046 + Frame_Shift_Ins INS - - A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 157496045 157496046 - A INS ARID1B ENST00000367148 human ensembl 70_37 +1 known frame_shift_ins c.3161_3162 p.M1055fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 18 2 10.00 48 0 0.00 ARID1B 57492 genome.wustl.edu 37 6 157502141 157502141 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 157502141 157502141 G A SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known silent c.3294 p.T1098 0.344 superfamily_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 30 25 45.45 38 0 0.00 ARID1B 57492 genome.wustl.edu 37 6 157519969 157519969 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 157519969 157519969 T G SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known nonsense c.4158 p.Y1386* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 32 28 46.67 63 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46211629 46211629 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 46211629 46211629 A G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.595 p.I199V 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 38 19 33.33 49 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46231410 46231410 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 46231410 46231410 C T SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.1250 p.S417L 1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 27 27 50.00 80 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46245685 46245685 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 46245685 46245685 A G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.3779 p.E1260G 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 26 9 25.71 50 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46245832 46245832 + Nonsense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 46245832 46245832 C G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known nonsense c.3926 p.S1309* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 10 11 52.38 22 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46246080 46246080 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 46246080 46246080 C G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.4174 p.P1392A 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 39 15 27.78 44 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46287285 46287285 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 46287285 46287285 C A SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.5230 p.L1744M 0.811 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 33 4 10.81 34 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46300166 46300166 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 46300166 46300166 C T SNP ARID2 ENST00000479608 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 31 25 44.64 78 0 0.00 ARID2 196528 genome.wustl.edu 37 12 46301283 46301283 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 46301283 46301283 G C SNP ARID2 ENST00000479608 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 49 42 46.15 72 0 0.00 ARID3A 1820 genome.wustl.edu 37 19 929434 929434 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 929434 929434 G A SNP ARID3A ENST00000585895 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors ARID3A HGNC ENSG00000116017 15 7 31.82 19 0 0.00 ARID3A 1820 genome.wustl.edu 37 19 964428 964428 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 964428 964428 C G SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known missense c.947 p.T316S 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 67 40 37.38 91 0 0.00 ARID3A 1820 genome.wustl.edu 37 19 964968 964968 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 964968 964968 G A SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known silent c.1086 p.S362 0.114 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 12 10 43.48 22 0 0.00 ARID3A 1820 genome.wustl.edu 37 19 964968 964968 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 964968 964968 G A SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known silent c.1086 p.S362 0.114 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 32 18 36.00 67 0 0.00 ARID3A 1820 genome.wustl.edu 37 19 966846 966846 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 966846 966846 G C SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known missense c.1473 p.M491I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 68 16 19.05 60 0 0.00 ARID3B 10620 genome.wustl.edu 37 15 74887963 74887964 + Frame_Shift_Ins INS - - C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 74887963 74887964 - C INS ARID3B ENST00000346246 human ensembl 70_37 +1 known frame_shift_ins c.1531_1532 p.Q512fs 1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 15 18 54.55 47 0 0.00 ARID3B 10620 genome.wustl.edu 37 15 74888066 74888066 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74888066 74888066 C T SNP ARID3B ENST00000346246 human ensembl 70_37 +1 known missense c.1634 p.S545L 0.995 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 42 22 34.38 51 0 0.00 ARID3B 10620 genome.wustl.edu 37 15 74890150 74890150 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74890150 74890150 G A SNP ARID3B ENST00000563567 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARID3B HGNC ENSG00000179361 12 14 53.85 26 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58768399 58768399 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 58768399 58768399 G A SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.108 p.V36 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 51 13 20.31 63 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58771670 58771670 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 58771670 58771670 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.126 p.L42 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 41 31 43.06 42 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58817869 58817869 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58817869 58817869 G T SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.1483 p.D495Y 0.999 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 9 4 30.77 15 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58817911 58817911 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 58817911 58817911 A G SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.1525 p.T509A 0.171 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 87 35 28.69 118 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58831088 58831088 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 58831088 58831088 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.2281 p.E761Q 0.998 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 65 36 35.29 143 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58831712 58831712 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 58831712 58831712 G A SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.2905 p.E969K 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 43 18 29.51 40 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58832749 58832749 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 58832749 58832749 C T SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.3324 p.S1108 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 135 55 28.95 253 0 0.00 ARID4A 5926 genome.wustl.edu 37 14 58838696 58838696 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 58838696 58838696 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.3763 p.E1255Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 29 19 39.58 50 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235338556 235338556 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 235338556 235338556 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.3607 p.D1203H 0.985 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 63 29 31.52 95 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235345845 235345845 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235345845 235345845 C - DEL ARID4B ENST00000264183 human ensembl 70_37 -1 known frame_shift_del c.2389 p.E797fs 0.999 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 62 25 28.74 70 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235345848 235345848 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235345848 235345848 C A SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known nonsense c.2386 p.E796* 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 57 29 33.72 70 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235383751 235383751 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 235383751 235383751 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.1273 p.E425Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 34 17 33.33 57 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235392695 235392695 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235392695 235392695 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 pfam_RBB1NT pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 14 11 42.31 29 0 0.00 ARID4B 51742 genome.wustl.edu 37 1 235423998 235423998 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 235423998 235423998 C T SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 40 29 42.03 44 0 0.00 ARID5A 10865 genome.wustl.edu 37 2 97217455 97217455 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 97217455 97217455 C T SNP ARID5A ENST00000357485 human ensembl 70_37 +1 known missense c.1190 p.S397F 0.951 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 10 3 23.08 19 0 0.00 ARID5A 10865 genome.wustl.edu 37 2 97217767 97217767 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 97217767 97217767 G T SNP ARID5A ENST00000357485 human ensembl 70_37 +1 known missense c.1502 p.R501M 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 34 4 10.53 32 0 0.00 ARID5B 84159 genome.wustl.edu 37 10 63661474 63661474 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 63661474 63661474 G T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known missense c.6 p.E2D 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 18 6 25.00 45 0 0.00 ARID5B 84159 genome.wustl.edu 37 10 63810655 63810655 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 63810655 63810655 C T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known missense c.742 p.L248F 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 16 13 44.83 45 0 0.00 ARID5B 84159 genome.wustl.edu 37 10 63845627 63845627 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 63845627 63845627 G T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known nonsense c.1366 p.E456* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 8 4 33.33 11 0 0.00 ARID5B 84159 genome.wustl.edu 37 10 63852202 63852202 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 63852202 63852202 C A SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known missense c.2980 p.H994N 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 32 4 11.11 26 0 0.00 ARIH2 10425 genome.wustl.edu 37 3 49002355 49002355 + Nonsense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49002355 49002355 C G SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known nonsense c.327 p.Y109* 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 26 13 33.33 42 0 0.00 ARIH2 10425 genome.wustl.edu 37 3 49002355 49002355 + Nonsense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49002355 49002355 C G SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known nonsense c.327 p.Y109* 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 44 19 30.16 67 0 0.00 ARIH2 10425 genome.wustl.edu 37 3 49006070 49006070 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 49006070 49006070 C T SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 66 30 31.25 109 0 0.00 ARIH2 10425 genome.wustl.edu 37 3 49017054 49017054 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49017054 49017054 C T SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known silent c.1101 p.F367 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 33 17 34.00 41 0 0.00 ARIH2OS 646450 genome.wustl.edu 37 3 48955903 48955903 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48955903 48955903 G C SNP ARIH2OS ENST00000408959 human ensembl 70_37 -1 known missense c.680 p.S227W 0.000 NULL NULL - no_errors ARIH2OS HGNC ENSG00000221883 47 24 32.88 62 0 0.00 ARIH2OS 646450 genome.wustl.edu 37 3 48956234 48956234 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48956234 48956234 G C SNP ARIH2OS ENST00000408959 human ensembl 70_37 -1 known missense c.349 p.R117G 0.778 NULL NULL - no_errors ARIH2OS HGNC ENSG00000221883 11 9 45.00 12 0 0.00 ARL1 400 genome.wustl.edu 37 12 101801473 101801473 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 101801473 101801473 C T SNP ARL1 ENST00000549283 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARL1 HGNC ENSG00000120805 55 43 43.88 68 0 0.00 ARL11 115761 genome.wustl.edu 37 13 50204667 50204667 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 50204667 50204667 C T SNP ARL11 ENST00000282026 human ensembl 70_37 +1 known silent c.84 p.L28 0.967 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ENSG00000152213 24 7 22.58 35 0 0.00 ARL13A 392509 genome.wustl.edu 37 X 100245555 100245555 + Nonsense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100245555 100245555 C G SNP ARL13A ENST00000450049 human ensembl 70_37 +1 novel nonsense c.749 p.S250* 0.111 NULL pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ENSG00000174225 14 23 62.16 19 0 0.00 ARL13B 200894 genome.wustl.edu 37 3 93768272 93768272 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 93768272 93768272 G A SNP ARL13B ENST00000394222 human ensembl 70_37 +1 known silent c.1047 p.K349 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 16 12 42.86 32 0 0.00 ARL14 80117 genome.wustl.edu 37 3 160395701 160395701 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 160395701 160395701 C G SNP ARL14 ENST00000320767 human ensembl 70_37 +1 known missense c.567 p.F189L 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL14 HGNC ENSG00000179674 14 4 22.22 21 0 0.00 ARL14EP 120534 genome.wustl.edu 37 11 30352607 30352607 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 30352607 30352607 G C SNP ARL14EP ENST00000282032 human ensembl 70_37 +1 known missense c.112 p.D38H 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 31 64 67.37 113 0 0.00 ARL14EP 120534 genome.wustl.edu 37 11 30352826 30352826 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 30352826 30352826 C T SNP ARL14EP ENST00000282032 human ensembl 70_37 +1 known missense c.331 p.P111S 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 26 22 45.83 64 0 0.00 ARL14EP 120534 genome.wustl.edu 37 11 30358265 30358265 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 30358265 30358265 C T SNP ARL14EP ENST00000282032 human ensembl 70_37 +1 known missense c.706 p.R236C 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 76 27 26.21 96 0 0.00 ARL14EPL 644100 genome.wustl.edu 37 5 115387169 115387169 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 115387169 115387169 G A SNP ARL14EPL ENST00000601302 human ensembl 70_37 +1 novel missense c.7 p.E3K 1.000 NULL NULL - no_errors ARL14EPL HGNC ENSG00000268223 10 6 37.50 23 0 0.00 ARL15 54622 genome.wustl.edu 37 5 53180802 53180803 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 53180802 53180803 - A INS ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.075 - - - no_errors ARL15 HGNC ENSG00000185305 22 3 12.00 46 0 0.00 ARL15 54622 genome.wustl.edu 37 5 53181043 53181044 + RNA INS - - T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 5 53181043 53181044 - T INS ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 0.030:0.013 - - - no_errors ARL15 HGNC ENSG00000185305 55 12 17.91 57 0 0.00 ARL15 54622 genome.wustl.edu 37 5 53182187 53182187 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 53182187 53182187 C G SNP ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARL15 HGNC ENSG00000185305 16 14 46.67 16 0 0.00 ARL16 339231 genome.wustl.edu 37 17 79648864 79648864 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79648864 79648864 G C SNP ARL16 ENST00000397498 human ensembl 70_37 -1 known missense c.468 p.I156M 0.725 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 15 18 54.55 36 0 0.00 ARL16 339231 genome.wustl.edu 37 17 79650079 79650079 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 17 79650079 79650079 G C SNP ARL16 ENST00000397498 human ensembl 70_37 -1 known missense c.270 p.I90M 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 54 8 12.90 52 0 0.00 ARL3 403 genome.wustl.edu 37 10 104459241 104459241 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 104459241 104459241 G C SNP ARL3 ENST00000260746 human ensembl 70_37 -1 known missense c.153 p.F51L 0.997 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom - no_errors ARL3 HGNC ENSG00000138175 63 46 42.20 108 0 0.00 ARL4D 379 genome.wustl.edu 37 17 41477529 41477529 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41477529 41477529 G A SNP ARL4D ENST00000320033 human ensembl 70_37 +1 known silent c.429 p.L143 0.947 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4D HGNC ENSG00000175906 16 4 20.00 18 0 0.00 ARL5A 26225 genome.wustl.edu 37 2 152663369 152663369 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152663369 152663369 G A SNP ARL5A ENST00000295087 human ensembl 70_37 -1 known missense c.457 p.H153Y 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 47 10 17.54 93 0 0.00 ARL5A 26225 genome.wustl.edu 37 2 152684679 152684679 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152684679 152684679 G C SNP ARL5A ENST00000295087 human ensembl 70_37 -1 known silent c.12 p.L4 1.000 smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 76 11 12.64 83 0 0.00 ARL5B 221079 genome.wustl.edu 37 10 18961578 18961578 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 18961578 18961578 G T SNP ARL5B ENST00000377275 human ensembl 70_37 +1 known missense c.283 p.D95Y 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 32 4 11.11 64 0 0.00 ARL5B 221079 genome.wustl.edu 37 10 18961608 18961608 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 18961608 18961608 G T SNP ARL5B ENST00000377275 human ensembl 70_37 +1 known nonsense c.313 p.E105* 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 18 7 26.92 45 0 0.00 ARL6IP1 23204 genome.wustl.edu 37 16 18804601 18804601 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 18804601 18804601 G C SNP ARL6IP1 ENST00000304414 human ensembl 70_37 -1 known silent c.585 p.L195 1.000 NULL pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 29 7 19.44 43 0 0.00 ARL6IP5 10550 genome.wustl.edu 37 3 69134213 69134213 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 69134213 69134213 C G SNP ARL6IP5 ENST00000273258 human ensembl 70_37 +1 known missense c.15 p.I5M 0.835 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors ARL6IP5 HGNC ENSG00000144746 34 21 38.18 67 0 0.00 ARL8B 55207 genome.wustl.edu 37 3 5164213 5164213 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 5164213 5164213 G T SNP ARL8B ENST00000455168 human ensembl 70_37 +1 known nonsense c.235 p.G79* 1.000 NULL NULL - no_errors ARL8B HGNC ENSG00000134108 36 4 10.00 34 0 0.00 ARL8B 55207 genome.wustl.edu 37 3 5220573 5220573 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 5220573 5220573 C G SNP ARL8B ENST00000468010 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors ARL8B HGNC ENSG00000134108 27 4 12.90 59 0 0.00 ARL9 132946 genome.wustl.edu 37 4 57377384 57377384 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 57377384 57377384 G C SNP ARL9 ENST00000360096 human ensembl 70_37 +1 known missense c.79 p.D27H 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL9 HGNC ENSG00000196503 21 14 40.00 24 0 0.00 ARMC1 55156 genome.wustl.edu 37 8 66525572 66525572 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 66525572 66525572 C T SNP ARMC1 ENST00000276569 human ensembl 70_37 -1 known missense c.372 p.M124I 1.000 pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 145 47 24.35 197 0 0.00 ARMC1 55156 genome.wustl.edu 37 8 66539550 66539550 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 66539550 66539550 C T SNP ARMC1 ENST00000276569 human ensembl 70_37 -1 known silent c.84 p.P28 0.015 pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 173 87 33.46 184 0 0.00 ARMC10 83787 genome.wustl.edu 37 7 102716269 102716269 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 102716269 102716269 C A SNP ARMC10 ENST00000323716 human ensembl 70_37 +1 known nonsense c.185 p.S62* 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 40 14 25.93 76 0 0.00 ARMC12 221481 genome.wustl.edu 37 6 35715376 35715376 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 35715376 35715376 C T SNP ARMC12 ENST00000288065 human ensembl 70_37 +1 known silent c.723 p.S241 0.219 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 30 11 26.83 30 0 0.00 ARMC2 84071 genome.wustl.edu 37 6 109232115 109232115 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 109232115 109232115 G C SNP ARMC2 ENST00000392644 human ensembl 70_37 +1 known missense c.1037 p.R346T 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 40 20 33.33 65 0 0.00 ARMC2 84071 genome.wustl.edu 37 6 109274451 109274451 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 109274451 109274451 C A SNP ARMC2 ENST00000392644 human ensembl 70_37 +1 known silent c.1812 p.L604 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 18 17 48.57 23 0 0.00 ARMC3 219681 genome.wustl.edu 37 10 23270566 23270566 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 23270566 23270566 A T SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.1112 p.E371V 0.908 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 51 20 28.17 72 0 0.00 ARMC3 219681 genome.wustl.edu 37 10 23287294 23287294 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 23287294 23287294 G A SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.1393 p.A465T 0.783 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 21 17 44.74 56 0 0.00 ARMC3 219681 genome.wustl.edu 37 10 23295873 23295873 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 10 23295873 23295873 C G SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.1792 p.L598V 0.112 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 50 20 28.57 62 0 0.00 ARMC3 219681 genome.wustl.edu 37 10 23326324 23326324 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 23326324 23326324 G C SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.2535 p.E845D 0.000 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 25 13 34.21 40 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28151524 28151524 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 28151524 28151524 C T SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.2638 p.V880I 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 49 16 24.62 63 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28233243 28233243 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 28233243 28233243 G C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.1651 p.L551V 0.997 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 30 24 44.44 68 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28250610 28250610 + Missense_Mutation SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 10 28250610 28250610 C A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.1273 p.D425Y 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 27 8 22.86 36 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28250635 28250635 + Silent SNP A A C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 28250635 28250635 A C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known silent c.1248 p.A416 0.002 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 38 10 20.83 41 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28273115 28273115 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 28273115 28273115 G C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.680 p.S227* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 26 3 10.00 40 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28273994 28273994 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 28273994 28273994 G A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.529 p.Q177* 0.889 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 24 11 31.43 65 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28283895 28283895 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 28283895 28283895 C T SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.177 p.W59* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 51 9 15.00 83 0 0.00 ARMC4 55130 genome.wustl.edu 37 10 28283975 28283975 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 28283975 28283975 C A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.97 p.E33* 0.967 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 24 12 33.33 63 0 0.00 ARMC5 79798 genome.wustl.edu 37 16 31474058 31474058 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 31474058 31474058 T G SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.1475 p.F492C 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 66 9 12.00 126 0 0.00 ARMC5 79798 genome.wustl.edu 37 16 31476046 31476046 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 31476046 31476046 C T SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.1987 p.R663C 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 22 13 37.14 25 0 0.00 ARMC5 79798 genome.wustl.edu 37 16 31477187 31477187 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31477187 31477187 G C SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.2166 p.Q722H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 54 27 33.33 59 0 0.00 ARMC6 93436 genome.wustl.edu 37 19 19166203 19166203 + Missense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 19166203 19166203 C A SNP ARMC6 ENST00000392336 human ensembl 70_37 +1 known missense c.1153 p.Q385K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 64 16 19.75 45 0 0.00 ARMC6 93436 genome.wustl.edu 37 19 19166718 19166718 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 19166718 19166718 C T SNP ARMC6 ENST00000392336 human ensembl 70_37 +1 known missense c.1274 p.P425L 0.993 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 31 13 29.55 79 0 0.00 ARMC7 79637 genome.wustl.edu 37 17 73125203 73125203 + RNA SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 73125203 73125203 C T SNP ARMC7 ENST00000579096 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ARMC7 HGNC ENSG00000125449 42 6 12.50 25 0 0.00 ARMC8 25852 genome.wustl.edu 37 3 137906440 137906440 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 137906440 137906440 C T SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.44 p.S15L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 54 22 28.95 41 0 0.00 ARMC8 25852 genome.wustl.edu 37 3 137960643 137960643 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 137960643 137960643 C T SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known nonsense c.856 p.R286* 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 29 18 38.30 64 0 0.00 ARMC8 25852 genome.wustl.edu 37 3 137983011 137983011 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 137983011 137983011 G A SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.1256 p.R419Q 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 51 7 11.86 37 0 0.00 ARMC8 25852 genome.wustl.edu 37 3 137991869 137991869 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 137991869 137991869 G A SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.1540 p.E514K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 34 8 19.05 47 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232079546 232079546 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 232079546 232079546 G A SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known silent c.180 p.K60 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 74 22 22.92 137 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232100031 232100031 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 232100031 232100031 C T SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known silent c.717 p.H239 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 47 15 24.19 62 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232141480 232141480 + Missense_Mutation SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 2 232141480 232141480 G A SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known missense c.1466 p.R489H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 19 17 47.22 26 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232196514 232196514 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 232196514 232196514 G A SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known missense c.1783 p.D595N 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 39 7 15.22 25 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232234713 232234713 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 232234713 232234713 G C SNP ARMC9 ENST00000483477 human ensembl 70_37 +1 known rna NULL NULL 0.881 - - - no_errors ARMC9 HGNC ENSG00000135931 10 25 71.43 80 0 0.00 ARMC9 80210 genome.wustl.edu 37 2 232234743 232234743 + RNA SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 232234743 232234743 A G SNP ARMC9 ENST00000483477 human ensembl 70_37 +1 known rna NULL NULL 0.652 - - - no_errors ARMC9 HGNC ENSG00000135931 70 14 16.67 91 0 0.00 ARMCX1 51309 genome.wustl.edu 37 X 100808136 100808136 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 100808136 100808136 G C SNP ARMCX1 ENST00000372829 human ensembl 70_37 +1 known missense c.223 p.E75Q 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 45 7 13.46 37 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100910679 100910679 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 100910679 100910679 G C SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known missense c.1896 p.F632L 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 56 18 24.32 58 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100910949 100910949 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100910949 100910949 C T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1626 p.L542 0.995 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 16 13 44.83 36 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100911003 100911003 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100911003 100911003 G T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1572 p.I524 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 11 6 35.29 35 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100911348 100911348 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100911348 100911348 G C SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1227 p.L409 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 30 62 67.39 51 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100911645 100911645 + Silent SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 100911645 100911645 G T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.930 p.G310 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 161 24 12.83 153 0 0.00 ARMCX2 9823 genome.wustl.edu 37 X 100912263 100912263 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100912263 100912263 G A SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.312 p.S104 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 22 15 40.54 40 0 0.00 ARMCX3 51566 genome.wustl.edu 37 X 100878842 100878842 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100878842 100878842 G A SNP ARMCX3 ENST00000467808 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARMCX3 HGNC ENSG00000102401 46 29 38.67 111 0 0.00 ARMCX3 51566 genome.wustl.edu 37 X 100880767 100880767 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100880767 100880767 C G SNP ARMCX3 ENST00000341189 human ensembl 70_37 +1 known silent c.798 p.L266 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 3 10 76.92 29 0 0.00 ARMCX3 51566 genome.wustl.edu 37 X 100880829 100880829 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100880829 100880829 C T SNP ARMCX3 ENST00000341189 human ensembl 70_37 +1 known missense c.860 p.S287F 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 2 12 85.71 23 0 0.00 ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100877981 100877981 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100877981 100877981 G T SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors ARMCX3-AS1 HGNC ENSG00000228275 6 4 40.00 11 0 0.00 ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100878176 100878176 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 100878176 100878176 G A SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARMCX3-AS1 HGNC ENSG00000228275 99 22 18.18 78 0 0.00 ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100878294 100878294 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 100878294 100878294 C T SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors ARMCX3-AS1 HGNC ENSG00000228275 25 22 46.81 23 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100743007 100743007 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 100743007 100743007 C T SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.87 p.L29 0.947 NULL NULL - no_errors ARMCX4 HGNC ENSG00000196440 21 5 19.23 11 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100743067 100743067 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100743067 100743067 A G SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.147 p.E49 0.015 NULL NULL - no_errors ARMCX4 HGNC ENSG00000196440 13 8 38.10 22 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100743621 100743621 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 100743621 100743621 G A SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.357 p.V119 1.000 NULL NULL - no_errors ARMCX4 HGNC ENSG00000196440 70 23 24.73 68 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100743681 100743681 + Silent SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 100743681 100743681 G C SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.417 p.V139 0.973 NULL NULL - no_errors ARMCX4 HGNC ENSG00000196440 95 44 31.65 39 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100744929 100744929 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 100744929 100744929 G C SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.1353 p.K451N 0.077 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 9 32 78.05 41 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100745979 100745979 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 100745979 100745979 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative silent c.2403 p.L801 0.128 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 72 12 14.29 63 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100747723 100747723 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 100747723 100747723 C T SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative nonsense c.4147 p.Q1383* 0.164 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 87 28 24.14 84 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100748051 100748051 + Missense_Mutation SNP A A G TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 100748051 100748051 A G SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.4475 p.D1492G 0.553 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 21 18 46.15 90 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100748119 100748119 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100748119 100748119 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.4543 p.G1515R 0.007 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 48 125 72.25 69 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100749126 100749126 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100749126 100749126 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative silent c.5550 p.G1850 0.004 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 57 29 33.72 106 0 0.00 ARMCX4 100131755 genome.wustl.edu 37 X 100749262 100749262 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 100749262 100749262 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.5686 p.E1896K 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 30 23 43.40 50 0 0.00 ARMCX5 64860 genome.wustl.edu 37 X 101857527 101857527 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101857527 101857527 G A SNP ARMCX5 ENST00000246174 human ensembl 70_37 +1 known missense c.458 p.R153K 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 31 32 50.79 27 0 0.00 ARMCX5 64860 genome.wustl.edu 37 X 101858743 101858743 + Silent SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 101858743 101858743 C G SNP ARMCX5 ENST00000246174 human ensembl 70_37 +1 known silent c.1674 p.L558 0.997 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 47 26 35.62 53 0 0.00 ARNT 405 genome.wustl.edu 37 1 150785761 150785761 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 150785761 150785761 C T SNP ARNT ENST00000358595 human ensembl 70_37 -1 known missense c.2167 p.V723M 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 34 20 37.04 70 0 0.00 ARNT 405 genome.wustl.edu 37 1 150789274 150789274 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 150789274 150789274 C A SNP ARNT ENST00000358595 human ensembl 70_37 -1 known nonsense c.1792 p.E598* 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 34 10 22.73 25 0 0.00 ARNT 405 genome.wustl.edu 37 1 150807072 150807072 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 150807072 150807072 G C SNP ARNT ENST00000358595 human ensembl 70_37 -1 known missense c.745 p.Q249E 1.000 pfam_PAS_fold pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 70 16 18.60 75 0 0.00 ARNT2 9915 genome.wustl.edu 37 15 80762742 80762742 + Silent SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 80762742 80762742 C A SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known silent c.378 p.G126 0.998 superfamily_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 33 15 31.25 41 0 0.00 ARNT2 9915 genome.wustl.edu 37 15 80762742 80762742 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 15 80762742 80762742 C T SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known silent c.378 p.G126 0.998 superfamily_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 25 4 13.79 42 0 0.00 ARNT2 9915 genome.wustl.edu 37 15 80847445 80847445 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 80847445 80847445 G A SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known missense c.1129 p.E377K 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 17 3 15.00 19 0 0.00 ARNTL 406 genome.wustl.edu 37 11 13391231 13391231 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 13391231 13391231 C G SNP ARNTL ENST00000403290 human ensembl 70_37 +1 known missense c.737 p.S246C 1.000 pfam_PAS_fold,prints_Nuc_translocat pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 33 26 44.07 64 0 0.00 ARNTL 406 genome.wustl.edu 37 11 13399978 13399978 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 13399978 13399978 C T SNP ARNTL ENST00000403290 human ensembl 70_37 +1 known silent c.1509 p.I503 1.000 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 12 4 25.00 28 0 0.00 ARPC1A 10552 genome.wustl.edu 37 7 98951620 98951620 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 98951620 98951620 G C SNP ARPC1A ENST00000262942 human ensembl 70_37 +1 known missense c.589 p.E197Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 42 27 39.13 74 0 0.00 ARPC1A 10552 genome.wustl.edu 37 7 98951669 98951669 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 98951669 98951669 C G SNP ARPC1A ENST00000262942 human ensembl 70_37 +1 known missense c.638 p.S213C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 78 13 14.29 34 0 0.00 ARPC1B 10095 genome.wustl.edu 37 7 98984028 98984028 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98984028 98984028 G A SNP ARPC1B ENST00000493403 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPC1B HGNC ENSG00000130429 24 7 22.58 20 0 0.00 ARPC1B 10095 genome.wustl.edu 37 7 98992156 98992156 + RNA SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 98992156 98992156 G A SNP ARPC1B ENST00000461486 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPC1B HGNC ENSG00000130429 39 14 26.42 78 0 0.00 ARPC2 10109 genome.wustl.edu 37 2 219082250 219082250 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 219082250 219082250 C G SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.57 p.F19L 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 43 10 18.87 51 0 0.00 ARPC2 10109 genome.wustl.edu 37 2 219093481 219093481 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 219093481 219093481 C T SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.130 p.H44Y 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 33 29 46.77 36 0 0.00 ARPC2 10109 genome.wustl.edu 37 2 219093488 219093488 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219093488 219093488 C T SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.137 p.S46L 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 43 14 24.56 48 0 0.00 ARPC5 10092 genome.wustl.edu 37 1 183595671 183595671 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 183595671 183595671 G A SNP ARPC5 ENST00000462965 human ensembl 70_37 -1 known rna NULL NULL 0.170 - - - no_errors ARPC5 HGNC ENSG00000162704 28 5 15.15 23 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35724351 35724351 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 35724351 35724351 G T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.141 p.E47D 0.758 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 33 4 10.81 114 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35732402 35732402 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 35732402 35732402 G C SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.591 p.M197I 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 13 23 63.89 80 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35750512 35750512 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 35750512 35750512 G C SNP ARPP21 ENST00000187397 human ensembl 70_37 +1 known missense c.847 p.E283Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 7 4 36.36 31 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35763138 35763138 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 35763138 35763138 A G SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.935 p.Q312R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 24 6 20.00 15 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35778726 35778726 + Nonsense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 35778726 35778726 C T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known nonsense c.1414 p.Q472* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 83 19 18.63 100 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35785388 35785388 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 35785388 35785388 C T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.1966 p.R656W 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 27 29 51.79 94 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35785442 35785442 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 35785442 35785442 G A SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2020 p.A674T 0.147 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 82 36 30.51 94 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35833939 35833939 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 35833939 35833939 C A SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2101 p.Q701K 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 56 74 56.92 250 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35835430 35835430 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 35835430 35835430 G T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2422 p.G808C 0.992 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 13 4 23.53 24 0 0.00 ARPP21 10777 genome.wustl.edu 37 3 35835544 35835544 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 35835544 35835544 C T SNP ARPP21 ENST00000476052 human ensembl 70_37 +1 known rna NULL NULL 0.895 - - - no_errors ARPP21 HGNC ENSG00000172995 4 5 55.56 19 0 0.00 ARR3 407 genome.wustl.edu 37 X 69497631 69497632 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 69497631 69497632 - A INS ARR3 ENST00000307959 human ensembl 70_37 +1 known frame_shift_ins c.675_676 p.I227fs 0.996:1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 14 8 36.36 27 0 0.00 ARRB1 408 genome.wustl.edu 37 11 74977311 74977311 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 74977311 74977311 C T SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known missense c.1153 p.D385N 1.000 superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 20 16 44.44 53 0 0.00 ARRB1 408 genome.wustl.edu 37 11 74994373 74994373 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 74994373 74994373 G C SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known silent c.312 p.L104 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 35 9 20.45 36 0 0.00 ARRB1 408 genome.wustl.edu 37 11 74995312 74995312 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 74995312 74995312 G T SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known missense c.124 p.L42M 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 27 4 12.90 27 0 0.00 ARRB2 409 genome.wustl.edu 37 17 4622635 4622635 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4622635 4622635 C G SNP ARRB2 ENST00000269260 human ensembl 70_37 +1 known silent c.837 p.L279 0.984 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ENSG00000141480 33 21 38.89 55 0 0.00 ARRDC1 92714 genome.wustl.edu 37 9 140508299 140508299 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140508299 140508299 C T SNP ARRDC1 ENST00000466367 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARRDC1 HGNC ENSG00000197070 32 10 23.81 45 0 0.00 ARRDC1 92714 genome.wustl.edu 37 9 140508900 140508900 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 140508900 140508900 C T SNP ARRDC1 ENST00000371421 human ensembl 70_37 +1 known silent c.768 p.S256 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 66 13 16.46 71 0 0.00 ARRDC2 27106 genome.wustl.edu 37 19 18121164 18121164 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18121164 18121164 G C SNP ARRDC2 ENST00000222250 human ensembl 70_37 +1 known missense c.1009 p.E337Q 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 75 14 15.73 60 0 0.00 ARRDC2 27106 genome.wustl.edu 37 19 18121476 18121476 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18121476 18121476 G A SNP ARRDC2 ENST00000222250 human ensembl 70_37 +1 known missense c.1108 p.E370K 0.995 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 35 9 20.45 35 0 0.00 ARRDC3 57561 genome.wustl.edu 37 5 90669612 90669612 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 90669612 90669612 C G SNP ARRDC3 ENST00000265138 human ensembl 70_37 -1 known silent c.1077 p.R359 1.000 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 59 15 20.27 38 0 0.00 ARRDC3 57561 genome.wustl.edu 37 5 90670952 90670952 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 90670952 90670952 G T SNP ARRDC3 ENST00000265138 human ensembl 70_37 -1 known silent c.657 p.S219 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 23 3 11.54 26 0 0.00 ARRDC3 57561 genome.wustl.edu 37 5 90671370 90671370 + Frame_Shift_Del DEL T T - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 90671370 90671370 T - DEL ARRDC3 ENST00000265138 human ensembl 70_37 -1 known frame_shift_del c.571 p.I191fs 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 6 13 68.42 26 0 0.00 ARRDC5 645432 genome.wustl.edu 37 19 4891274 4891274 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 4891274 4891274 G A SNP ARRDC5 ENST00000381781 human ensembl 70_37 -1 known silent c.813 p.F271 0.811 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 82 11 11.83 55 0 0.00 ARSA 410 genome.wustl.edu 37 22 51066038 51066038 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 51066038 51066038 C G SNP ARSA ENST00000216124 human ensembl 70_37 -1 known missense c.170 p.G57A 0.001 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 87 21 19.44 105 0 0.00 ARSD 414 genome.wustl.edu 37 X 2825157 2825158 + RNA INS - - AAAA TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 2825157 2825158 - AAAA INS ARSD ENST00000495294 human ensembl 70_37 -1 known rna NULL NULL 0.277:0.277 - - - no_errors ARSD HGNC ENSG00000006756 1 3 75.00 8 0 0.00 ARSE 415 genome.wustl.edu 37 X 2878447 2878447 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 2878447 2878447 C T SNP ARSE ENST00000540563 human ensembl 70_37 -1 known missense c.22 p.D8N 0.001 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 37 27 42.19 56 0 0.00 ARSF 416 genome.wustl.edu 37 X 3030566 3030566 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 3030566 3030566 C T SNP ARSF ENST00000359361 human ensembl 70_37 +1 known missense c.1742 p.S581F 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 40 9 18.37 39 0 0.00 ARSH 347527 genome.wustl.edu 37 X 2951222 2951222 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 2951222 2951222 G A SNP ARSH ENST00000381130 human ensembl 70_37 +1 known silent c.1485 p.L495 0.013 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSH HGNC ENSG00000205667 43 8 15.69 29 0 0.00 ARSI 340075 genome.wustl.edu 37 5 149677811 149677811 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 149677811 149677811 G C SNP ARSI ENST00000328668 human ensembl 70_37 -1 known missense c.676 p.Q226E 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 23 16 40.00 43 0 0.00 ARSJ 79642 genome.wustl.edu 37 4 114823522 114823522 + Missense_Mutation SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 4 114823522 114823522 C G SNP ARSJ ENST00000315366 human ensembl 70_37 -1 known missense c.1708 p.E570Q 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 13 3 18.75 13 0 0.00 ARSK 153642 genome.wustl.edu 37 5 94918715 94918715 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 94918715 94918715 G C SNP ARSK ENST00000380009 human ensembl 70_37 +1 known missense c.512 p.R171T 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 50 11 18.03 90 0 0.00 ART1 417 genome.wustl.edu 37 11 3681284 3681284 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 3681284 3681284 C T SNP ART1 ENST00000250693 human ensembl 70_37 +1 known nonsense c.535 p.R179* 0.995 pfam_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 35 10 22.22 32 0 0.00 ART3 419 genome.wustl.edu 37 4 77020136 77020136 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 77020136 77020136 C T SNP ART3 ENST00000355810 human ensembl 70_37 +1 known silent c.843 p.N281 0.142 NULL pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 32 4 11.11 22 0 0.00 ART4 420 genome.wustl.edu 37 12 14993509 14993509 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 14993509 14993509 G C SNP ART4 ENST00000228936 human ensembl 70_37 -1 known silent c.723 p.L241 1.000 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 13 13 50.00 33 0 0.00 ART4 420 genome.wustl.edu 37 12 14993782 14993782 + Nonsense_Mutation SNP A A T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 14993782 14993782 A T SNP ART4 ENST00000228936 human ensembl 70_37 -1 known nonsense c.450 p.Y150* 0.095 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 56 12 17.65 49 0 0.00 ART4 420 genome.wustl.edu 37 12 14993819 14993819 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 14993819 14993819 C G SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.413 p.R138T 0.000 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 18 5 21.74 72 0 0.00 ART4 420 genome.wustl.edu 37 12 14993997 14993997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 14993997 14993997 G C SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.235 p.Q79E 0.977 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 12 15 55.56 30 0 0.00 ART4 420 genome.wustl.edu 37 12 14995906 14995906 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 14995906 14995906 C T SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.142 p.E48K 0.239 NULL pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 18 7 28.00 45 0 0.00 ART5 116969 genome.wustl.edu 37 11 3661163 3661163 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 3661163 3661163 G A SNP ART5 ENST00000359918 human ensembl 70_37 -1 known missense c.496 p.R166C 0.887 pfam_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 32 28 46.67 53 0 0.00 ART5 116969 genome.wustl.edu 37 11 3663063 3663063 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 3663063 3663063 G A SNP ART5 ENST00000359918 human ensembl 70_37 -1 known silent c.30 p.L10 0.238 NULL pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 78 11 12.36 93 0 0.00 ARV1 64801 genome.wustl.edu 37 1 231131561 231131561 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 231131561 231131561 G T SNP ARV1 ENST00000310256 human ensembl 70_37 +1 known missense c.504 p.M168I 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 14 6 30.00 53 0 0.00 ARVCF 421 genome.wustl.edu 37 22 19960823 19960823 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19960823 19960823 C G SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known missense c.2257 p.E753Q 0.994 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 28 15 34.88 39 0 0.00 ARVCF 421 genome.wustl.edu 37 22 19965082 19965082 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 22 19965082 19965082 G A SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known missense c.1726 p.R576W 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 146 20 12.05 112 0 0.00 ARVCF 421 genome.wustl.edu 37 22 19967387 19967387 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 19967387 19967387 G A SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known silent c.1275 p.R425 0.977 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 15 2 11.76 13 0 0.00 ARX 170302 genome.wustl.edu 37 X 25031391 25031391 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 25031391 25031391 C G SNP ARX ENST00000379044 human ensembl 70_37 -1 known missense c.721 p.E241Q 0.999 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 6 3 33.33 12 0 0.00 AS3MT 57412 genome.wustl.edu 37 10 104632312 104632312 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 104632312 104632312 G T SNP AS3MT ENST00000369880 human ensembl 70_37 +1 known missense c.278 p.G93V 1.000 pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 59 27 31.40 53 0 0.00 ASAH1 427 genome.wustl.edu 37 8 17916852 17916852 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 17916852 17916852 C T SNP ASAH1 ENST00000381733 human ensembl 70_37 -1 known missense c.1087 p.E363K 0.992 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 28 9 24.32 44 0 0.00 ASAH1 427 genome.wustl.edu 37 8 17933080 17933080 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17933080 17933080 C T SNP ASAH1 ENST00000381733 human ensembl 70_37 -1 known missense c.143 p.R48K 1.000 pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 16 12 42.86 42 0 0.00 ASAH2 56624 genome.wustl.edu 37 10 51974603 51974603 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 51974603 51974603 G A SNP ASAH2 ENST00000395526 human ensembl 70_37 -1 known missense c.1040 p.S347L 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 28 39 58.21 80 0 0.00 ASAH2 56624 genome.wustl.edu 37 10 52005193 52005193 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 52005193 52005193 G A SNP ASAH2 ENST00000395526 human ensembl 70_37 -1 known missense c.149 p.S50L 0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 76 26 25.49 101 0 0.00 ASAH2C 653365 genome.wustl.edu 37 10 48007171 48007171 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 48007171 48007171 C T SNP ASAH2C ENST00000426610 human ensembl 70_37 -1 known missense c.1543 p.E515K 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2C HGNC ENSG00000072444 27 8 22.86 112 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131073096 131073096 + Missense_Mutation SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 131073096 131073096 T C SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2921 p.K974R 1.000 prints_p67phox pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 25 21 45.65 49 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131088615 131088615 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 131088615 131088615 G A SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2680 p.L894F 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 2 9 81.82 13 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131127903 131127903 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 131127903 131127903 C G SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2143 p.D715H 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 80 25 23.81 96 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131128932 131128932 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 131128932 131128932 C T SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2056 p.E686K 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 40 35 46.67 59 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131200418 131200418 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 131200418 131200418 C T SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known silent c.417 p.L139 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 34 16 32.00 62 0 0.00 ASAP1 50807 genome.wustl.edu 37 8 131249237 131249237 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 131249237 131249237 G A SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known silent c.190 p.L64 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 36 17 32.08 39 0 0.00 ASAP2 8853 genome.wustl.edu 37 2 9528642 9528643 + Frame_Shift_Ins INS - - C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 2 9528642 9528643 - C INS ASAP2 ENST00000281419 human ensembl 70_37 +1 known frame_shift_ins c.2350_2351 p.L787fs 1.000:1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 41 5 10.87 42 0 0.00 ASAP3 55616 genome.wustl.edu 37 1 23759693 23759693 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 23759693 23759693 C G SNP ASAP3 ENST00000336689 human ensembl 70_37 -1 known missense c.2200 p.E734Q 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 24 13 35.14 48 0 0.00 ASAP3 55616 genome.wustl.edu 37 1 23760772 23760772 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 23760772 23760772 C T SNP ASAP3 ENST00000336689 human ensembl 70_37 -1 known silent c.1926 p.L642 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 30 9 23.08 30 0 0.00 ASAP3 55616 genome.wustl.edu 37 1 23765253 23765253 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 23765253 23765253 G A SNP ASAP3 ENST00000336689 human ensembl 70_37 -1 known silent c.1089 p.F363 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 19 17 47.22 59 0 0.00 ASB10 136371 genome.wustl.edu 37 7 150878059 150878059 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150878059 150878059 G A SNP ASB10 ENST00000422024 human ensembl 70_37 -1 known silent c.1206 p.G402 0.011 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 29 9 23.68 39 0 0.00 ASB10 136371 genome.wustl.edu 37 7 150883515 150883515 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150883515 150883515 C T SNP ASB10 ENST00000422024 human ensembl 70_37 -1 known missense c.683 p.R228H 0.633 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 39 10 20.41 66 0 0.00 ASB10 136371 genome.wustl.edu 37 7 150884266 150884267 + Frame_Shift_Ins INS - - AG TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 150884266 150884267 - AG INS ASB10 ENST00000422024 human ensembl 70_37 -1 known frame_shift_ins c.87_86 p.P30fs 0.000:0.003 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 11 10 47.62 17 0 0.00 ASB13 79754 genome.wustl.edu 37 10 5683875 5683875 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 5683875 5683875 C T SNP ASB13 ENST00000357700 human ensembl 70_37 -1 known silent c.567 p.A189 0.008 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB13 HGNC ENSG00000196372 18 11 37.93 43 0 0.00 ASB15 142685 genome.wustl.edu 37 7 123254659 123254659 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 123254659 123254659 G T SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known nonsense c.103 p.E35* 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 36 4 10.00 61 0 0.00 ASB15 142685 genome.wustl.edu 37 7 123256536 123256536 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 123256536 123256536 G A SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.279 p.E93 0.990 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 15 12 44.44 34 0 0.00 ASB15 142685 genome.wustl.edu 37 7 123264786 123264786 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 123264786 123264786 G A SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.615 p.L205 0.885 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 72 39 35.14 132 0 0.00 ASB15 142685 genome.wustl.edu 37 7 123276930 123276930 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 123276930 123276930 C G SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.1662 p.L554 0.993 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 36 26 41.94 48 0 0.00 ASB16 92591 genome.wustl.edu 37 17 42248408 42248408 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42248408 42248408 A G SNP ASB16 ENST00000293414 human ensembl 70_37 +1 known missense c.251 p.N84S 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB16 HGNC ENSG00000161664 45 7 13.46 64 0 0.00 ASB16 92591 genome.wustl.edu 37 17 42255079 42255079 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42255079 42255079 G A SNP ASB16 ENST00000293414 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.994 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB16 HGNC ENSG00000161664 39 27 40.91 60 0 0.00 ASB16-AS1 339201 genome.wustl.edu 37 17 42253983 42253983 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 42253983 42253983 C T SNP ASB16-AS1 ENST00000585457 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTB-175E5.4 Clone_based_vega_gene ENSG00000267080 107 39 26.71 117 0 0.00 ASB16-AS1 339201 genome.wustl.edu 37 17 42253983 42253983 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 42253983 42253983 C T SNP ASB16-AS1 ENST00000585457 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTB-175E5.4 Clone_based_vega_gene ENSG00000267080 45 8 15.09 28 0 0.00 ASB17 127247 genome.wustl.edu 37 1 76384652 76384652 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 76384652 76384652 C T SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known silent c.873 p.L291 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 56 8 12.50 27 0 0.00 ASB17 127247 genome.wustl.edu 37 1 76397629 76397629 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 76397629 76397629 C T SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known silent c.348 p.K116 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 12 6 33.33 13 0 0.00 ASB17 127247 genome.wustl.edu 37 1 76397739 76397739 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 76397739 76397739 G A SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known missense c.238 p.R80C 0.947 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 16 11 40.74 39 0 0.00 ASB18 401036 genome.wustl.edu 37 2 237172927 237172927 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 237172927 237172927 T C SNP ASB18 ENST00000409749 human ensembl 70_37 -1 known missense c.62 p.K21R 0.882 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 30 20 40.00 72 0 0.00 ASB2 51676 genome.wustl.edu 37 14 94405849 94405849 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 94405849 94405849 C T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.1078 p.E360K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 36 12 25.00 63 0 0.00 ASB2 51676 genome.wustl.edu 37 14 94405904 94405904 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 94405904 94405904 C T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known silent c.1023 p.L341 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 19 16 45.71 17 0 0.00 ASB2 51676 genome.wustl.edu 37 14 94417385 94417385 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94417385 94417385 C G SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.696 p.Q232H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 32 20 38.46 49 0 0.00 ASB2 51676 genome.wustl.edu 37 14 94420704 94420704 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 94420704 94420704 G T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.293 p.A98E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 30 4 11.76 31 0 0.00 ASB3 51130 genome.wustl.edu 37 2 53831950 53831950 + RNA SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 53831950 53831950 G C SNP ASB3 ENST00000482339 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB3 HGNC ENSG00000115239 27 19 41.30 38 0 0.00 ASB3 51130 genome.wustl.edu 37 2 53897777 53897777 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 53897777 53897777 G C SNP ASB3 ENST00000352846 human ensembl 70_37 -1 known missense c.1534 p.L512V 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB3 HGNC ENSG00000115239 22 3 12.00 26 0 0.00 ASB4 51666 genome.wustl.edu 37 7 95157138 95157138 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 95157138 95157138 C T SNP ASB4 ENST00000325885 human ensembl 70_37 +1 known silent c.501 p.N167 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 49 10 16.95 43 0 0.00 ASB4 51666 genome.wustl.edu 37 7 95157220 95157220 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 95157220 95157220 G A SNP ASB4 ENST00000325885 human ensembl 70_37 +1 known missense c.583 p.V195M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 44 19 30.16 52 0 0.00 ASB9 140462 genome.wustl.edu 37 X 15266972 15266972 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 15266972 15266972 G C SNP ASB9 ENST00000380488 human ensembl 70_37 -1 known silent c.654 p.L218 0.955 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 152 28 15.56 197 0 0.00 ASCC1 51008 genome.wustl.edu 37 10 73921387 73921387 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 73921387 73921387 G A SNP ASCC1 ENST00000342444 human ensembl 70_37 -1 known missense c.619 p.H207Y 1.000 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ENSG00000138303 17 12 41.38 38 0 0.00 ASCC1 51008 genome.wustl.edu 37 10 73921387 73921387 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 73921387 73921387 G A SNP ASCC1 ENST00000342444 human ensembl 70_37 -1 known missense c.619 p.H207Y 1.000 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ENSG00000138303 28 4 12.50 60 0 0.00 ASCC2 84164 genome.wustl.edu 37 22 30189461 30189461 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 30189461 30189461 C T SNP ASCC2 ENST00000307790 human ensembl 70_37 -1 known missense c.1807 p.E603K 0.900 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 27 24 47.06 32 0 0.00 ASCC3 10973 genome.wustl.edu 37 6 101095188 101095188 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 101095188 101095188 G C SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known nonsense c.3392 p.S1131* 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 83 21 20.19 114 0 0.00 ASCC3 10973 genome.wustl.edu 37 6 101248365 101248365 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 101248365 101248365 A T SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known missense c.938 p.I313N 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 16 16 50.00 52 0 0.00 ASCC3 10973 genome.wustl.edu 37 6 101312040 101312040 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 101312040 101312040 C T SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known nonsense c.141 p.W47* 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 104 47 31.13 180 0 0.00 ASCC3 10973 genome.wustl.edu 37 6 101315861 101315861 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 101315861 101315861 G C SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known missense c.13 p.R5G 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 30 9 23.08 32 0 0.00 ASCL4 121549 genome.wustl.edu 37 12 108169152 108169152 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 108169152 108169152 G A SNP ASCL4 ENST00000342331 human ensembl 70_37 +1 known missense c.160 p.G54S 0.001 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ASCL4 HGNC ENSG00000187855 10 5 33.33 13 0 0.00 ASCL4 121549 genome.wustl.edu 37 12 108169229 108169229 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 108169229 108169229 C T SNP ASCL4 ENST00000342331 human ensembl 70_37 +1 known silent c.237 p.N79 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ASCL4 HGNC ENSG00000187855 22 30 57.69 21 0 0.00 ASGR1 432 genome.wustl.edu 37 17 7077286 7077286 + Missense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 7077286 7077286 C A SNP ASGR1 ENST00000269299 human ensembl 70_37 -1 known missense c.695 p.G232V 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 41 34 45.33 74 0 0.00 ASGR2 433 genome.wustl.edu 37 17 7017496 7017496 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7017496 7017496 G A SNP ASGR2 ENST00000355035 human ensembl 70_37 -1 known nonsense c.64 p.Q22* 0.000 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 45 5 10.00 58 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155319338 155319338 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 155319338 155319338 C T SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known silent c.7431 p.K2477 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 51 14 21.54 46 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155327406 155327406 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 1 155327406 155327406 C T SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known silent c.6945 p.K2315 1.000 superfamily_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 91 13 12.38 105 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155327445 155327445 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155327445 155327445 G A SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known silent c.6906 p.P2302 0.039 superfamily_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 63 40 38.83 101 1 0.98 ASH1L 55870 genome.wustl.edu 37 1 155330125 155330125 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155330125 155330125 A C SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.6777 p.D2259E 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 19 17 47.22 47 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155340568 155340568 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 155340568 155340568 C T SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.6554 p.R2185K 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 25 8 24.24 42 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155408777 155408777 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155408777 155408777 T G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.5169 p.Q1723H 0.896 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 28 11 28.21 53 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155448847 155448847 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 155448847 155448847 G A SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.3814 p.R1272W 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 13 7 35.00 31 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155449314 155449314 + Missense_Mutation SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 155449314 155449314 C G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.3347 p.G1116A 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 23 7 23.33 31 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155451652 155451652 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 155451652 155451652 C G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.1009 p.D337H 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 58 29 33.33 88 0 0.00 ASH1L 55870 genome.wustl.edu 37 1 155491127 155491127 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155491127 155491127 T C SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.184 p.K62E 0.992 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 54 10 15.62 127 0 0.00 ASH1L-AS1 645676 genome.wustl.edu 37 1 155532244 155532244 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 155532244 155532244 G C SNP ASH1L-AS1 ENST00000594351 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors ASH1L-AS1 HGNC ENSG00000235919 33 27 45.00 25 0 0.00 ASH1L-AS1 645676 genome.wustl.edu 37 1 155533434 155533434 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 155533434 155533434 G A SNP ASH1L-AS1 ENST00000452809 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ASH1L-AS1 HGNC ENSG00000235919 42 33 44.00 32 0 0.00 ASH2L 9070 genome.wustl.edu 37 8 37978654 37978654 + Silent SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 8 37978654 37978654 C G SNP ASH2L ENST00000343823 human ensembl 70_37 +1 known silent c.1152 p.A384 0.715 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 59 27 31.03 59 0 0.00 ASIC1 41 genome.wustl.edu 37 12 50467395 50467395 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 50467395 50467395 T C SNP ASIC1 ENST00000552438 human ensembl 70_37 +1 putative missense c.28 p.S10P 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC1 HGNC ENSG00000110881 14 14 50.00 42 0 0.00 ASIC1 41 genome.wustl.edu 37 12 50474444 50474444 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 50474444 50474444 G C SNP ASIC1 ENST00000228468 human ensembl 70_37 +1 known missense c.1369 p.G457R 0.001 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 36 17 32.08 51 0 0.00 ASIC2 40 genome.wustl.edu 37 17 31438962 31438962 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 31438962 31438962 C T SNP ASIC2 ENST00000225823 human ensembl 70_37 -1 known missense c.832 p.E278K 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 50 30 37.50 66 0 0.00 ASIC2 40 genome.wustl.edu 37 17 31618955 31618955 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 31618955 31618955 G A SNP ASIC2 ENST00000225823 human ensembl 70_37 -1 known missense c.179 p.S60L 0.194 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 11 8 42.11 23 0 0.00 ASIC3 9311 genome.wustl.edu 37 7 150746280 150746280 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 150746280 150746280 C T SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.308 p.T103M 0.849 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 18 21 53.85 61 0 0.00 ASIC3 9311 genome.wustl.edu 37 7 150747872 150747872 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150747872 150747872 G A SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.841 p.D281N 0.263 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 31 15 32.61 54 0 0.00 ASIC3 9311 genome.wustl.edu 37 7 150749539 150749539 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150749539 150749539 C T SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.1495 p.P499S 0.155 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 54 21 28.00 85 0 0.00 ASIC3 9311 genome.wustl.edu 37 7 150749645 150749645 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 150749645 150749645 C G SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.1522 p.L508V 0.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 31 22 41.51 44 0 0.00 ASIC4 55515 genome.wustl.edu 37 2 220397701 220397701 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220397701 220397701 C G SNP ASIC4 ENST00000473709 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ASIC4 HGNC ENSG00000072182 102 55 34.81 80 0 0.00 ASL 435 genome.wustl.edu 37 7 65546867 65546867 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 7 65546867 65546867 C T SNP ASL ENST00000304874 human ensembl 70_37 +1 known silent c.90 p.Y30 0.782 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 61 18 22.78 86 0 0.00 ASL 435 genome.wustl.edu 37 7 65547435 65547435 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 65547435 65547435 G A SNP ASL ENST00000304874 human ensembl 70_37 +1 known silent c.288 p.L96 0.997 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 80 16 16.67 47 0 0.00 ASL 435 genome.wustl.edu 37 7 65551611 65551611 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65551611 65551611 G C SNP ASL ENST00000304874 human ensembl 70_37 +1 known missense c.486 p.Q162H 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 102 65 38.69 119 0 0.00 ASL 435 genome.wustl.edu 37 7 65553811 65553811 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 65553811 65553811 G A SNP ASL ENST00000304874 human ensembl 70_37 +1 known missense c.736 p.A246T 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 21 3 12.50 44 0 0.00 ASMT 438 genome.wustl.edu 37 X 1734097 1734097 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 1734097 1734097 G A SNP ASMT ENST00000381241 human ensembl 70_37 +1 known missense c.5 p.G2E 0.001 pirsf_O-MeTrfase_CAOMT-type pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type - no_errors ASMT HGNC ENSG00000196433 88 34 27.87 111 0 0.00 ASMTL 8623 genome.wustl.edu 37 X 1531691 1531691 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 1531691 1531691 G A SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.1579 p.L527 1.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 446 105 19.06 374 0 0.00 ASMTL 8623 genome.wustl.edu 37 X 1531692 1531692 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 1531692 1531692 G T SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.1578 p.I526 0.992 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 52 13 20.00 137 0 0.00 ASMTL 8623 genome.wustl.edu 37 X 1540565 1540565 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 1540565 1540565 C T SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known missense c.1231 p.E411K 0.023 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 175 55 23.91 195 0 0.00 ASMTL 8623 genome.wustl.edu 37 X 1551173 1551173 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 1551173 1551173 G A SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.498 p.S166 0.996 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 138 23 14.29 140 1 0.71 ASMTL 8623 genome.wustl.edu 37 X 1561059 1561059 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 1561059 1561059 G A SNP ASMTL ENST00000474865 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ASMTL HGNC ENSG00000169093 291 71 19.61 401 0 0.00 ASMTL-AS1 80161 genome.wustl.edu 37 X 1520978 1520978 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 1520978 1520978 G A SNP ASMTL-AS1 ENST00000419737 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors ASMTL-AS1 HGNC ENSG00000236017 44 18 29.03 65 0 0.00 ASNA1 439 genome.wustl.edu 37 19 12858250 12858250 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 12858250 12858250 G A SNP ASNA1 ENST00000357332 human ensembl 70_37 +1 known silent c.759 p.L253 1.000 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3 - no_errors ASNA1 HGNC ENSG00000198356 26 8 23.53 75 0 0.00 ASNSD1 54529 genome.wustl.edu 37 2 190531026 190531026 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 190531026 190531026 G T SNP ASNSD1 ENST00000260952 human ensembl 70_37 +1 known missense c.168 p.L56F 0.998 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 43 8 15.69 59 0 0.00 ASNSD1 54529 genome.wustl.edu 37 2 190531167 190531167 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 190531167 190531167 G A SNP ASNSD1 ENST00000260952 human ensembl 70_37 +1 known silent c.309 p.K103 0.003 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 19 9 32.14 37 0 0.00 ASNSD1 54529 genome.wustl.edu 37 2 190531908 190531910 + In_Frame_Del DEL TCT TCT - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 190531908 190531910 TCT - DEL ASNSD1 ENST00000260952 human ensembl 70_37 +1 known in_frame_del c.1050_1052 p.L352in_frame_del 1.000:1.000:1.000 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 7 17 70.83 26 0 0.00 ASPA 443 genome.wustl.edu 37 17 3379673 3379673 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 3379673 3379673 G C SNP ASPA ENST00000263080 human ensembl 70_37 +1 known missense c.220 p.D74H 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 34 45 56.25 129 0 0.00 ASPA 443 genome.wustl.edu 37 17 3397702 3397702 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 3397702 3397702 C T SNP ASPA ENST00000263080 human ensembl 70_37 +1 known silent c.693 p.Y231 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 29 7 19.44 19 0 0.00 ASPG 374569 genome.wustl.edu 37 14 104559921 104559921 + Nonsense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 104559921 104559921 C A SNP ASPG ENST00000455920 human ensembl 70_37 +1 known nonsense c.285 p.C95* 0.013 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 37 28 43.08 22 0 0.00 ASPH 444 genome.wustl.edu 37 8 62416034 62416034 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 62416034 62416034 C T SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.2161 p.D721N 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 29 16 35.56 37 0 0.00 ASPH 444 genome.wustl.edu 37 8 62416044 62416044 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 62416044 62416044 G C SNP ASPH ENST00000379454 human ensembl 70_37 -1 known silent c.2151 p.L717 0.999 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 31 13 29.55 21 0 0.00 ASPH 444 genome.wustl.edu 37 8 62430629 62430629 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 62430629 62430629 C T SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.1954 p.E652K 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 78 30 27.78 40 0 0.00 ASPH 444 genome.wustl.edu 37 8 62465592 62465592 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 62465592 62465592 C G SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.1624 p.E542Q 1.000 NULL pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 23 10 30.30 25 0 0.00 ASPH 444 genome.wustl.edu 37 8 62546284 62546284 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 62546284 62546284 C A SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.892 p.V298L 0.036 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 13 6 31.58 21 0 0.00 ASPH 444 genome.wustl.edu 37 8 62566204 62566204 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 62566204 62566204 G C SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.338 p.S113C 0.959 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 63 19 23.17 94 0 0.00 ASPHD1 253982 genome.wustl.edu 37 16 29912347 29912347 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 29912347 29912347 G C SNP ASPHD1 ENST00000308748 human ensembl 70_37 +1 known missense c.55 p.E19Q 0.010 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 25 14 35.90 27 0 0.00 ASPHD1 253982 genome.wustl.edu 37 16 29912882 29912882 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 29912882 29912882 C T SNP ASPHD1 ENST00000308748 human ensembl 70_37 +1 known missense c.590 p.S197L 0.594 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 85 31 26.72 124 0 0.00 ASPHD1 253982 genome.wustl.edu 37 16 29913117 29913117 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 29913117 29913117 G T SNP ASPHD1 ENST00000308748 human ensembl 70_37 +1 known silent c.825 p.L275 0.808 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 14 6 30.00 21 0 0.00 ASPHD2 57168 genome.wustl.edu 37 22 26829794 26829794 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26829794 26829794 C T SNP ASPHD2 ENST00000215906 human ensembl 70_37 +1 known silent c.213 p.F71 0.982 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 22 19 46.34 47 0 0.00 ASPHD2 57168 genome.wustl.edu 37 22 26830049 26830049 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 26830049 26830049 C G SNP ASPHD2 ENST00000215906 human ensembl 70_37 +1 known silent c.468 p.L156 1.000 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 35 5 12.50 40 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197059457 197059457 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 197059457 197059457 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.9698 p.R3233Q 0.912 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 56 9 13.85 74 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197069809 197069809 + Nonsense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 197069809 197069809 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known nonsense c.8572 p.Q2858* 0.000 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 27 12 30.77 14 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197070687 197070687 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 197070687 197070687 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.7694 p.R2565K 0.999 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 34 5 12.82 35 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197071695 197071695 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 197071695 197071695 C G SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.6686 p.R2229T 0.798 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 124 29 18.83 104 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197072216 197072216 + Silent SNP T T C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 197072216 197072216 T C SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.6165 p.R2055 0.108 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 28 13 31.71 71 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197073358 197073358 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 197073358 197073358 A G SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.5023 p.F1675L 0.999 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 16 8 33.33 38 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197091175 197091176 + Splice_Site INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 197091175 197091176 - A INS ASPM ENST00000367409 human ensembl 70_37 -1 known splice_site_ins c.3742-3_3742-2 e16-2 1.000:0.990 - - - no_errors ASPM HGNC ENSG00000066279 11 4 26.67 30 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197091367 197091367 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 197091367 197091367 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.3663 p.R1221 0.619 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 79 22 21.57 34 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197094291 197094291 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 197094291 197094291 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known nonsense c.2967 p.W989* 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 43 19 30.65 53 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197098341 197098341 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 197098341 197098341 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.2736 p.L912 1.000 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 26 3 10.34 27 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197112471 197112471 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 197112471 197112471 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.911 p.S304L 0.994 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 70 21 23.08 49 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197112773 197112773 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 197112773 197112773 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.609 p.G203 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 9 2 18.18 11 0 0.00 ASPM 259266 genome.wustl.edu 37 1 197115342 197115342 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 197115342 197115342 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.226 p.E76K 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 21 20 48.78 35 0 0.00 ASPN 54829 genome.wustl.edu 37 9 95219688 95219688 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95219688 95219688 G C SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.1025 p.S342C 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 45 22 32.84 49 0 0.00 ASPN 54829 genome.wustl.edu 37 9 95219736 95219736 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95219736 95219736 C G SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.977 p.R326T 0.985 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 74 18 19.57 78 0 0.00 ASPN 54829 genome.wustl.edu 37 9 95236914 95236914 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95236914 95236914 G A SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.266 p.S89L 1.000 pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 23 9 28.12 35 0 0.00 ASPSCR1 79058 genome.wustl.edu 37 17 79954696 79954696 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 79954696 79954696 C T SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.907 p.P303S 0.001 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 60 32 34.78 108 0 0.00 ASPSCR1 79058 genome.wustl.edu 37 17 79973017 79973017 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 79973017 79973017 G C SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.1420 p.E474Q 0.035 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 29 17 36.96 37 0 0.00 ASPSCR1 79058 genome.wustl.edu 37 17 79973128 79973128 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79973128 79973128 C T SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.1531 p.P511S 0.000 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 68 10 12.82 88 0 0.00 ASS1 445 genome.wustl.edu 37 9 133352327 133352327 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 133352327 133352327 C G SNP ASS1 ENST00000334909 human ensembl 70_37 +1 known missense c.667 p.L223V 0.970 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 23 4 14.81 47 0 0.00 ASS1 445 genome.wustl.edu 37 9 133352341 133352341 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 133352341 133352341 C T SNP ASS1 ENST00000334909 human ensembl 70_37 +1 known silent c.681 p.F227 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 17 5 22.73 53 0 0.00 ASS1 445 genome.wustl.edu 37 9 133370371 133370371 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 9 133370371 133370371 G A SNP ASS1 ENST00000334909 human ensembl 70_37 +1 known missense c.1088 p.R363Q 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 20 9 31.03 30 0 0.00 ASTE1 28990 genome.wustl.edu 37 3 130733047 130733047 + Frame_Shift_Del DEL T T - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 130733047 130733047 T - DEL ASTE1 ENST00000264992 human ensembl 70_37 -1 known frame_shift_del c.1894 p.R632fs 0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 31 6 16.22 25 0 0.00 ASTE1 28990 genome.wustl.edu 37 3 130743916 130743916 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 130743916 130743916 C G SNP ASTE1 ENST00000264992 human ensembl 70_37 -1 known missense c.235 p.D79H 0.997 pfam_XPG_DNA_repair_N pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 31 12 27.91 37 0 0.00 ASTL 431705 genome.wustl.edu 37 2 96803339 96803339 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 96803339 96803339 G C SNP ASTL ENST00000342380 human ensembl 70_37 -1 known missense c.156 p.D52E 0.997 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 113 20 15.04 175 0 0.00 ASTL 431705 genome.wustl.edu 37 2 96803369 96803369 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 96803369 96803369 G C SNP ASTL ENST00000342380 human ensembl 70_37 -1 known silent c.126 p.L42 0.000 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 30 21 41.18 108 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176838073 176838073 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 176838073 176838073 G A SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3578 p.S1193F 0.989 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 83 14 14.43 47 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176838140 176838140 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 176838140 176838140 G C SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3511 p.L1171V 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 66 19 22.35 61 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176853535 176853535 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 176853535 176853535 C G SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3190 p.D1064H 0.999 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 34 13 27.66 57 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176857336 176857336 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 176857336 176857336 A G SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.2969 p.L990S 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 16 3 15.79 14 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176863936 176863936 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 1 176863936 176863936 C T SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.2726 p.R909Q 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 197 64 24.43 203 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176918332 176918332 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 176918332 176918332 G A SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known silent c.2067 p.L689 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 31 35 53.03 40 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176934347 176934347 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 176934347 176934347 C T SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.1574 p.R525Q 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 31 32 50.79 39 0 0.00 ASTN1 460 genome.wustl.edu 37 1 176999980 176999980 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 176999980 176999980 G C SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.974 p.S325C 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 56 50 47.17 100 0 0.00 ASTN1 460 genome.wustl.edu 37 1 177133810 177133810 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 177133810 177133810 C T SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 10 13 56.52 14 0 0.00 ASTN2 23245 genome.wustl.edu 37 9 119249769 119249769 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 119249769 119249769 C G SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known silent c.3366 p.L1122 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 34 13 27.66 69 0 0.00 ASTN2 23245 genome.wustl.edu 37 9 119382606 119382606 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 119382606 119382606 G T SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known missense c.3189 p.S1063R 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 36 4 10.00 40 0 0.00 ASTN2 23245 genome.wustl.edu 37 9 119495716 119495716 + Missense_Mutation SNP A A T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 119495716 119495716 A T SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known missense c.2483 p.V828D 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 14 16 53.33 35 0 0.00 ASUN 55726 genome.wustl.edu 37 12 27068991 27068991 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 27068991 27068991 C G SNP ASUN ENST00000261191 human ensembl 70_37 -1 known missense c.1192 p.D398H 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 22 13 37.14 59 0 0.00 ASUN 55726 genome.wustl.edu 37 12 27089604 27089604 + Missense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 27089604 27089604 C A SNP ASUN ENST00000261191 human ensembl 70_37 -1 known missense c.133 p.A45S 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 33 7 17.50 33 0 0.00 ASXL1 171023 genome.wustl.edu 37 20 31020682 31020682 + Splice_Site SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 20 31020682 31020682 G T SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known splice_site c.980-1 e11-1 1.000 - - - no_errors ASXL1 HGNC ENSG00000171456 20 3 13.04 28 0 0.00 ASXL1 171023 genome.wustl.edu 37 20 31021697 31021697 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 31021697 31021697 G A SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known missense c.1696 p.E566K 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 40 7 14.89 33 0 0.00 ASXL1 171023 genome.wustl.edu 37 20 31022441 31022442 + Frame_Shift_Ins INS - - G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 20 31022441 31022442 - G INS ASXL1 ENST00000375687 human ensembl 70_37 +1 known frame_shift_ins c.1926_1927 p.G645fs 1.000:1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 63 25 28.41 63 0 0.00 ASXL1 171023 genome.wustl.edu 37 20 31023127 31023127 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 31023127 31023127 C G SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known nonsense c.2612 p.S871* 0.277 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 43 12 21.82 29 0 0.00 ASXL1 171023 genome.wustl.edu 37 20 31024506 31024506 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 20 31024506 31024506 C T SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known missense c.3991 p.P1331S 0.996 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 23 19 44.19 22 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25965734 25965734 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25965734 25965734 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.3472 p.A1158T 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 25 7 21.88 78 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25965752 25965752 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25965752 25965752 G C SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.3454 p.L1152V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 24 10 29.41 53 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25966681 25966681 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25966681 25966681 G A SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.2525 p.S842L 0.995 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 20 7 25.93 29 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25966688 25966688 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25966688 25966688 G A SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known silent c.2518 p.L840 0.831 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 23 5 17.86 26 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25966982 25966982 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 25966982 25966982 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.2224 p.E742K 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 46 8 14.81 56 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 25972626 25972627 + Frame_Shift_Del DEL GA GA - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 25972626 25972627 GA - DEL ASXL2 ENST00000435504 human ensembl 70_37 -1 known frame_shift_del c.1799_1798 p.S600fs 0.215:0.247 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 29 22 43.14 58 0 0.00 ASXL2 55252 genome.wustl.edu 37 2 26022384 26022384 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 26022384 26022384 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known silent c.273 p.V91 0.999 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 34 5 12.20 24 0 0.00 ASXL3 80816 genome.wustl.edu 37 18 31319867 31319867 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 31319867 31319867 G A SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known silent c.2499 p.L833 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 29 4 12.12 23 0 0.00 ASXL3 80816 genome.wustl.edu 37 18 31322918 31322918 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 31322918 31322918 C T SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known nonsense c.3106 p.R1036* 0.997 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 39 8 17.02 52 0 0.00 ASXL3 80816 genome.wustl.edu 37 18 31323015 31323015 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 31323015 31323015 G T SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known missense c.3203 p.R1068L 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 22 12 35.29 41 0 0.00 ASXL3 80816 genome.wustl.edu 37 18 31323474 31323474 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 31323474 31323474 C G SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known missense c.3662 p.S1221C 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 69 23 24.73 87 0 0.00 ASZ1 136991 genome.wustl.edu 37 7 117067509 117067509 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 117067509 117067509 C T SNP ASZ1 ENST00000284629 human ensembl 70_37 -1 known silent c.6 p.A2 0.958 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 17 14 45.16 55 0 0.00 ATAD1 84896 genome.wustl.edu 37 10 89552437 89552437 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 89552437 89552437 G A SNP ATAD1 ENST00000308448 human ensembl 70_37 -1 known missense c.238 p.L80F 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 26 11 29.73 70 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124359381 124359381 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 124359381 124359381 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known silent c.2163 p.Q721 0.992 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 136 42 23.60 181 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124381325 124381325 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 124381325 124381325 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.1022 p.R341K 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 40 24 37.50 57 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124382145 124382145 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124382145 124382145 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.847 p.E283K 0.994 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 19 11 36.67 35 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124382158 124382159 + In_Frame_Ins INS - - TCA TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 124382158 124382159 - TCA INS ATAD2 ENST00000287394 human ensembl 70_37 -1 known in_frame_ins c.834_833 p.278in_frame_insD 0.866:0.899 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 8 6 42.86 8 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124383164 124383164 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 124383164 124383164 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.706 p.D236N 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 34 7 17.07 23 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 124384892 124384893 - T INS ATAD2 ENST00000287394 human ensembl 70_37 -1 known frame_shift_ins c.355_354 p.E118fs 1.000:0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 34 9 20.93 29 0 0.00 ATAD2 29028 genome.wustl.edu 37 8 124408481 124408481 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 124408481 124408481 G C SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known silent c.117 p.L39 0.989 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 35 19 35.19 25 0 0.00 ATAD2B 54454 genome.wustl.edu 37 2 23988385 23988385 + Missense_Mutation SNP T T A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 23988385 23988385 T A SNP ATAD2B ENST00000238789 human ensembl 70_37 -1 known missense c.3247 p.I1083L 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 67 45 40.18 87 0 0.00 ATAD3A 55210 genome.wustl.edu 37 1 1454334 1454334 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 1454334 1454334 G A SNP ATAD3A ENST00000378755 human ensembl 70_37 +1 known missense c.622 p.E208K 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3A HGNC ENSG00000197785 47 21 30.88 73 0 0.00 ATAD3A 55210 genome.wustl.edu 37 1 1455604 1455604 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 1455604 1455604 G A SNP ATAD3A ENST00000378755 human ensembl 70_37 +1 known missense c.742 p.E248K 0.999 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3A HGNC ENSG00000197785 74 30 28.85 100 0 0.00 ATAD3B 83858 genome.wustl.edu 37 1 1418031 1418031 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1418031 1418031 G A SNP ATAD3B ENST00000378741 human ensembl 70_37 +1 known missense c.283 p.E95K 0.001 pfam_DUF3523 pfam_DUF3523 - no_errors ATAD3B HGNC ENSG00000160072 44 15 25.42 60 0 0.00 ATAD3B 83858 genome.wustl.edu 37 1 1418033 1418033 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1418033 1418033 G C SNP ATAD3B ENST00000378741 human ensembl 70_37 +1 known missense c.285 p.E95D 0.000 pfam_DUF3523 pfam_DUF3523 - no_errors ATAD3B HGNC ENSG00000160072 29 6 17.14 32 0 0.00 ATAD3B 83858 genome.wustl.edu 37 1 1421179 1421179 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1421179 1421179 C T SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known silent c.924 p.L308 0.856 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 39 9 18.75 51 0 0.00 ATAD3B 83858 genome.wustl.edu 37 1 1425636 1425636 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1425636 1425636 G A SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known splice_site c.1338-1 e14-1 1.000 - - - no_errors ATAD3B HGNC ENSG00000160072 64 39 37.86 48 0 0.00 ATAD3B 83858 genome.wustl.edu 37 1 1425767 1425767 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 1425767 1425767 G A SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known missense c.1468 p.D490N 1.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 82 14 14.43 113 0 0.00 ATAD3C 219293 genome.wustl.edu 37 1 1398013 1398013 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1398013 1398013 G A SNP ATAD3C ENST00000378785 human ensembl 70_37 +1 known silent c.1014 p.R338 0.999 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 64 55 46.22 114 0 0.00 ATAD3C 219293 genome.wustl.edu 37 1 1403903 1403903 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1403903 1403903 C T SNP ATAD3C ENST00000378785 human ensembl 70_37 +1 known missense c.1229 p.S410L 0.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 41 18 30.51 85 0 0.00 ATAD5 79915 genome.wustl.edu 37 17 29161319 29161319 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29161319 29161319 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.220 p.E74Q 0.997 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 21 9 30.00 26 0 0.00 ATAD5 79915 genome.wustl.edu 37 17 29161432 29161432 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29161432 29161432 G A SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known silent c.333 p.K111 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 38 9 18.75 34 0 0.00 ATAD5 79915 genome.wustl.edu 37 17 29162264 29162264 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29162264 29162264 G A SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.997 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 80 10 10.99 75 0 0.00 ATAD5 79915 genome.wustl.edu 37 17 29162536 29162536 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29162536 29162536 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.1437 p.K479N 0.826 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 76 15 16.48 74 0 0.00 ATAD5 79915 genome.wustl.edu 37 17 29171008 29171008 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 29171008 29171008 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.2319 p.L773F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 99 25 20.16 112 0 0.00 ATAT1 79969 genome.wustl.edu 37 6 30594728 30594728 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30594728 30594728 G C SNP ATAT1 ENST00000376485 human ensembl 70_37 +1 known silent c.66 p.L22 1.000 NULL pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 63 36 36.36 85 0 0.00 ATAT1 79969 genome.wustl.edu 37 6 30613720 30613721 + Frame_Shift_Ins INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 30613720 30613721 - G INS ATAT1 ENST00000376485 human ensembl 70_37 +1 known frame_shift_ins c.1017_1018 p.V341fs 0.985:0.997 NULL pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 33 11 25.00 53 0 0.00 ATAT1 79969 genome.wustl.edu 37 6 30614559 30614559 + RNA SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 30614559 30614559 C A SNP ATAT1 ENST00000468713 human ensembl 70_37 +1 known rna NULL NULL 0.609 - - - no_errors ATAT1 HGNC ENSG00000137343 7 4 36.36 8 0 0.00 ATCAY 85300 genome.wustl.edu 37 19 3885794 3885794 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 3885794 3885794 T C SNP ATCAY ENST00000301260 human ensembl 70_37 +1 known missense c.29 p.M10T 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 62 12 16.22 52 0 0.00 ATCAY 85300 genome.wustl.edu 37 19 3907823 3907823 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 19 3907823 3907823 C T SNP ATCAY ENST00000301260 human ensembl 70_37 +1 known silent c.450 p.N150 0.998 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 26 24 48.00 66 0 0.00 ATCAY 85300 genome.wustl.edu 37 19 3909586 3909586 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3909586 3909586 G A SNP ATCAY ENST00000301260 human ensembl 70_37 +1 known silent c.750 p.L250 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 62 11 15.07 63 0 0.00 ATE1 11101 genome.wustl.edu 37 10 123549544 123549545 + RNA INS - - AC TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 123549544 123549545 - AC INS ATE1 ENST00000470613 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATE1 HGNC ENSG00000107669 24 3 11.11 14 0 0.00 ATE1 11101 genome.wustl.edu 37 10 123549562 123549562 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 123549562 123549562 C G SNP ATE1 ENST00000470613 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATE1 HGNC ENSG00000107669 14 13 48.15 19 0 0.00 ATE1 11101 genome.wustl.edu 37 10 123549786 123549786 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 123549786 123549786 C T SNP ATE1 ENST00000224652 human ensembl 70_37 -1 known missense c.1276 p.D426N 1.000 pfam_Arg-tRNA-P_Trfase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 18 19 51.35 28 0 0.00 ATF2 1386 genome.wustl.edu 37 2 175957797 175957797 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 175957797 175957797 G A SNP ATF2 ENST00000264110 human ensembl 70_37 -1 known nonsense c.1177 p.Q393* 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 67 16 18.82 66 0 0.00 ATF2 1386 genome.wustl.edu 37 2 175957892 175957892 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 175957892 175957892 C T SNP ATF2 ENST00000264110 human ensembl 70_37 -1 known missense c.1082 p.R361Q 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 15 87 85.29 66 0 0.00 ATF3 467 genome.wustl.edu 37 1 212793751 212793751 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 212793751 212793751 T G SNP ATF3 ENST00000492118 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors ATF3 HGNC ENSG00000162772 54 20 27.03 103 0 0.00 ATF4 468 genome.wustl.edu 37 22 39917510 39917510 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39917510 39917510 C T SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.60 p.F20 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 60 15 20.00 58 0 0.00 ATF4 468 genome.wustl.edu 37 22 39917549 39917549 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 39917549 39917549 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 35 16 31.37 52 0 0.00 ATF4 468 genome.wustl.edu 37 22 39917549 39917549 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 39917549 39917549 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 52 7 11.86 55 0 0.00 ATF4 468 genome.wustl.edu 37 22 39917809 39917809 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 22 39917809 39917809 G A SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.258 p.L86 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 151 59 27.70 224 0 0.00 ATF4 468 genome.wustl.edu 37 22 39917981 39917981 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 39917981 39917981 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known missense c.430 p.L144V 0.689 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 60 14 18.92 77 0 0.00 ATF4 468 genome.wustl.edu 37 22 39918236 39918236 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 39918236 39918236 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known missense c.685 p.L229V 0.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 11 8 42.11 31 0 0.00 ATF4P4 100127952 genome.wustl.edu 37 11 113660609 113660609 + RNA SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 113660609 113660609 G C SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 29 7 19.44 32 0 0.00 ATF4P4 100127952 genome.wustl.edu 37 11 113660803 113660803 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 113660803 113660803 C T SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.608 - - - no_errors ATF4P4 HGNC ENSG00000256167 57 13 18.57 82 0 0.00 ATF4P4 100127952 genome.wustl.edu 37 11 113661405 113661405 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 113661405 113661405 C G SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.358 - - - no_errors ATF4P4 HGNC ENSG00000256167 31 21 40.38 51 0 0.00 ATF4P4 100127952 genome.wustl.edu 37 11 113661424 113661424 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 113661424 113661424 G A SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.686 - - - no_errors ATF4P4 HGNC ENSG00000256167 76 66 46.48 188 0 0.00 ATF4P4 100127952 genome.wustl.edu 37 11 113661713 113661713 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 113661713 113661713 G C SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 41 15 26.79 40 0 0.00 ATF5 22809 genome.wustl.edu 37 19 50436077 50436077 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 50436077 50436077 C G SNP ATF5 ENST00000423777 human ensembl 70_37 +1 known missense c.577 p.Q193E 0.046 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 37 9 19.57 52 0 0.00 ATF6B 1388 genome.wustl.edu 37 6 32083725 32083725 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 32083725 32083725 C T SNP ATF6B ENST00000375203 human ensembl 70_37 -1 known missense c.1903 p.A635T 0.003 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 15 4 21.05 25 0 0.00 ATF6B 1388 genome.wustl.edu 37 6 32083736 32083736 + Nonsense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 32083736 32083736 G C SNP ATF6B ENST00000375203 human ensembl 70_37 -1 known nonsense c.1892 p.S631* 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 10 9 47.37 27 0 0.00 ATF6B 1388 genome.wustl.edu 37 6 32095492 32095492 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 32095492 32095492 C T SNP ATF6B ENST00000375203 human ensembl 70_37 -1 known missense c.127 p.E43K 0.998 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 0 11 100.00 28 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14577421 14577421 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 12 14577421 14577421 C G SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.572 p.S191C 0.722 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 149 51 25.50 167 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14577801 14577802 + Frame_Shift_Ins INS - - A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 14577801 14577802 - A INS ATF7IP ENST00000261168 human ensembl 70_37 +1 known frame_shift_ins c.952_953 p.N320fs 0.416:0.322 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 44 9 16.98 56 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14578098 14578098 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 14578098 14578098 G C SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.1249 p.D417H 0.040 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 19 12 38.71 41 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14613464 14613464 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 14613464 14613464 G C SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.2194 p.V732L 0.914 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 46 23 33.33 71 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14613933 14613933 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 14613933 14613933 C T SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.2663 p.S888F 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 33 4 10.81 34 0 0.00 ATF7IP 55729 genome.wustl.edu 37 12 14613980 14613980 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 14613980 14613980 C T SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known nonsense c.2710 p.R904* 0.992 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 36 12 25.00 37 0 0.00 ATF7IP2 80063 genome.wustl.edu 37 16 10551364 10551364 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 10551364 10551364 C T SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known nonsense c.1330 p.Q444* 0.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 17 14 45.16 23 0 0.00 ATF7IP2 80063 genome.wustl.edu 37 16 10565998 10565998 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 10565998 10565998 G T SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known nonsense c.1384 p.E462* 1.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 12 4 25.00 13 0 0.00 ATF7IP2 80063 genome.wustl.edu 37 16 10575839 10575839 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 10575839 10575839 G A SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known silent c.1782 p.L594 0.999 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 24 13 35.14 23 0 0.00 ATG10 83734 genome.wustl.edu 37 5 81549226 81549226 + Silent SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 81549226 81549226 T C SNP ATG10 ENST00000282185 human ensembl 70_37 +1 known silent c.645 p.D215 0.000 NULL pfam_Autophagy-rel_prot_3 - no_errors ATG10 HGNC ENSG00000152348 63 18 22.22 57 0 0.00 ATG12 9140 genome.wustl.edu 37 5 115167552 115167552 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 5 115167552 115167552 G A SNP ATG12 ENST00000274459 human ensembl 70_37 -1 known silent c.513 p.G171 1.000 pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like - no_errors ATG12 HGNC ENSG00000145782 18 4 18.18 16 0 0.00 ATG12 9140 genome.wustl.edu 37 5 115177250 115177250 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 115177250 115177250 C G SNP ATG12 ENST00000274459 human ensembl 70_37 -1 known missense c.141 p.K47N 0.975 NULL pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like - no_errors ATG12 HGNC ENSG00000145782 10 16 61.54 37 0 0.00 ATG13 9776 genome.wustl.edu 37 11 46690371 46690371 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46690371 46690371 G C SNP ATG13 ENST00000312040 human ensembl 70_37 +1 known missense c.1258 p.E420Q 0.001 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 41 12 22.64 48 0 0.00 ATG13 9776 genome.wustl.edu 37 11 46691034 46691034 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 46691034 46691034 G A SNP ATG13 ENST00000312040 human ensembl 70_37 +1 known silent c.1428 p.L476 0.983 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 39 24 38.10 67 0 0.00 ATG16L2 89849 genome.wustl.edu 37 11 72533173 72533173 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72533173 72533173 G A SNP ATG16L2 ENST00000321297 human ensembl 70_37 +1 known silent c.477 p.Q159 0.151 pfam_Autophagy-rel_prot_16 pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 5 5 50.00 12 0 0.00 ATG2A 23130 genome.wustl.edu 37 11 64666216 64666216 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 11 64666216 64666216 G T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.4569 p.F1523L 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 29 8 21.62 38 0 0.00 ATG2A 23130 genome.wustl.edu 37 11 64669734 64669734 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64669734 64669734 G A SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.3908 p.S1303L 0.960 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 56 10 15.15 41 0 0.00 ATG2A 23130 genome.wustl.edu 37 11 64676516 64676516 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64676516 64676516 C T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.2311 p.E771K 0.653 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 66 53 44.17 65 0 0.00 ATG2A 23130 genome.wustl.edu 37 11 64677261 64677261 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64677261 64677261 C T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.1999 p.E667K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 33 30 47.62 56 0 0.00 ATG2A 23130 genome.wustl.edu 37 11 64679412 64679412 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64679412 64679412 G T SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known nonsense c.1130 p.S377* 0.963 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 68 54 44.26 102 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96752136 96752136 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 96752136 96752136 C A SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.6193 p.V2065F 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 42 5 10.64 31 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96756851 96756851 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 96756851 96756851 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.5778 p.Q1926H 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 22 16 42.11 35 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96757971 96757971 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 96757971 96757971 C T SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.5545 p.E1849K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 128 50 28.09 207 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96773233 96773233 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96773233 96773233 G C SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.4324 p.Q1442E 0.549 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 12 15 55.56 29 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96777609 96777609 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 96777609 96777609 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.4006 p.E1336Q 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 35 6 14.63 47 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96788973 96788973 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96788973 96788973 C A SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2640 p.E880D 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 69 11 13.75 78 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96788975 96788975 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96788975 96788975 C T SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2638 p.E880K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 71 12 14.46 81 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96792229 96792229 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 96792229 96792229 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2194 p.D732H 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 29 13 30.95 41 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96811053 96811053 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 96811053 96811053 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.519 p.L173F 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 45 11 19.64 55 0 0.00 ATG2B 55102 genome.wustl.edu 37 14 96813614 96813614 + Nonsense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 96813614 96813614 G T SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known nonsense c.227 p.S76* 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 22 3 12.00 43 0 0.00 ATG3 64422 genome.wustl.edu 37 3 112260686 112260686 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 112260686 112260686 C T SNP ATG3 ENST00000283290 human ensembl 70_37 -1 known missense c.439 p.E147K 1.000 pfam_Autophagy-rel_prot_3_N pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ENSG00000144848 33 10 23.26 52 0 0.00 ATG3 64422 genome.wustl.edu 37 3 112260706 112260706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 112260706 112260706 G A SNP ATG3 ENST00000283290 human ensembl 70_37 -1 known missense c.419 p.S140L 0.998 pfam_Autophagy-rel_prot_3_N pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ENSG00000144848 48 19 28.36 41 0 0.00 ATG4A 115201 genome.wustl.edu 37 X 107397094 107397094 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 107397094 107397094 C G SNP ATG4A ENST00000489247 human ensembl 70_37 +1 putative rna NULL NULL 0.904 - - - no_errors ATG4A HGNC ENSG00000101844 13 12 48.00 23 0 0.00 ATG4C 84938 genome.wustl.edu 37 1 63282267 63282267 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 63282267 63282267 C T SNP ATG4C ENST00000317868 human ensembl 70_37 +1 known missense c.182 p.A61V 0.010 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 17 8 32.00 25 0 0.00 ATG4C 84938 genome.wustl.edu 37 1 63329772 63329772 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 63329772 63329772 C T SNP ATG4C ENST00000317868 human ensembl 70_37 +1 known missense c.1319 p.S440L 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 37 18 32.73 55 0 0.00 ATG4D 84971 genome.wustl.edu 37 19 10655726 10655726 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 10655726 10655726 C T SNP ATG4D ENST00000309469 human ensembl 70_37 +1 known missense c.413 p.S138L 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 30 4 11.76 29 0 0.00 ATG5 9474 genome.wustl.edu 37 6 106650034 106650034 + RNA SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 106650034 106650034 C A SNP ATG5 ENST00000475645 human ensembl 70_37 -1 known rna NULL NULL 0.463 - - - no_errors ATG5 HGNC ENSG00000057663 5 12 70.59 35 0 0.00 ATG5 9474 genome.wustl.edu 37 6 106727617 106727617 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 106727617 106727617 C T SNP ATG5 ENST00000343245 human ensembl 70_37 -1 known missense c.397 p.D133N 1.000 pfam_Autophagy-rel_prot_5 pfam_Autophagy-rel_prot_5 - no_errors ATG5 HGNC ENSG00000057663 33 15 31.25 33 0 0.00 ATG7 10533 genome.wustl.edu 37 3 11372813 11372813 + Splice_Site SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 11372813 11372813 G A SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known splice_site c.679-1 e7-1 1.000 - - - no_errors ATG7 HGNC ENSG00000197548 107 93 46.50 262 0 0.00 ATG7 10533 genome.wustl.edu 37 3 11596302 11596302 + Silent SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 11596302 11596302 T C SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known silent c.2097 p.D699 1.000 tigrfam_E1-like_Apg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7 - no_errors ATG7 HGNC ENSG00000197548 47 6 11.32 44 0 0.00 ATG7 10533 genome.wustl.edu 37 3 11596302 11596302 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 11596302 11596302 T C SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known silent c.2097 p.D699 1.000 tigrfam_E1-like_Apg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7 - no_errors ATG7 HGNC ENSG00000197548 51 6 10.53 43 0 0.00 ATG9A 79065 genome.wustl.edu 37 2 220087138 220087138 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 220087138 220087138 G A SNP ATG9A ENST00000361242 human ensembl 70_37 -1 known missense c.1883 p.S628L 0.999 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 6 5 45.45 18 0 0.00 ATG9A 79065 genome.wustl.edu 37 2 220088626 220088626 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 220088626 220088626 G A SNP ATG9A ENST00000361242 human ensembl 70_37 -1 known missense c.1384 p.R462W 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 30 4 11.76 43 0 0.00 ATG9B 285973 genome.wustl.edu 37 7 150709588 150709588 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150709588 150709588 G C SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATG9B HGNC ENSG00000181652 36 11 23.40 27 0 0.00 ATG9B 285973 genome.wustl.edu 37 7 150710472 150710472 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 150710472 150710472 G C SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors ATG9B HGNC ENSG00000181652 29 4 12.12 35 0 0.00 ATG9B 285973 genome.wustl.edu 37 7 150717312 150717312 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150717312 150717312 G A SNP ATG9B ENST00000473409 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors ATG9B HGNC ENSG00000181652 18 25 58.14 56 0 0.00 ATG9B 285973 genome.wustl.edu 37 7 150720969 150720969 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 150720969 150720969 C T SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC ENSG00000181652 22 5 18.52 32 0 0.00 ATG9B 285973 genome.wustl.edu 37 7 150721408 150721408 + RNA SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 150721408 150721408 G T SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.935 - - - no_errors ATG9B HGNC ENSG00000181652 7 5 41.67 12 0 0.00 ATHL1 80162 genome.wustl.edu 37 11 290393 290393 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 290393 290393 C T SNP ATHL1 ENST00000409548 human ensembl 70_37 +1 known missense c.263 p.S88F 0.989 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 23 9 28.12 48 0 0.00 ATHL1 80162 genome.wustl.edu 37 11 290594 290594 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 290594 290594 G A SNP ATHL1 ENST00000409548 human ensembl 70_37 +1 known missense c.464 p.G155E 1.000 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 52 22 29.73 83 0 0.00 ATL1 51062 genome.wustl.edu 37 14 51026870 51026870 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 51026870 51026870 G C SNP ATL1 ENST00000556478 human ensembl 70_37 +1 known rna NULL NULL 0.185 - - - no_errors ATL1 HGNC ENSG00000198513 21 11 34.38 45 0 0.00 ATL1 51062 genome.wustl.edu 37 14 51094938 51094938 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 51094938 51094938 G A SNP ATL1 ENST00000357032 human ensembl 70_37 +1 known missense c.1309 p.D437N 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 19 9 32.14 29 0 0.00 ATL2 64225 genome.wustl.edu 37 2 38523698 38523698 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 38523698 38523698 C G SNP ATL2 ENST00000419554 human ensembl 70_37 -1 known missense c.1667 p.R556P 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 39 25 39.06 72 0 0.00 ATL2 64225 genome.wustl.edu 37 2 38537520 38537520 + Missense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 38537520 38537520 C G SNP ATL2 ENST00000378954 human ensembl 70_37 -1 known missense c.874 p.G292R 0.999 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 58 13 18.06 56 0 0.00 ATL3 25923 genome.wustl.edu 37 11 63403049 63403049 + Missense_Mutation SNP A A G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 63403049 63403049 A G SNP ATL3 ENST00000332645 human ensembl 70_37 -1 known missense c.1073 p.I358T 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL3 HGNC ENSG00000184743 9 20 68.97 31 0 0.00 ATL3 25923 genome.wustl.edu 37 11 63410919 63410919 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 63410919 63410919 G A SNP ATL3 ENST00000332645 human ensembl 70_37 -1 known missense c.841 p.H281Y 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL3 HGNC ENSG00000184743 4 5 55.56 22 0 0.00 ATM 472 genome.wustl.edu 37 11 108121537 108121537 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 108121537 108121537 G T SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.1345 p.G449W 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 18 3 14.29 53 0 0.00 ATM 472 genome.wustl.edu 37 11 108122745 108122745 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 108122745 108122745 C G SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.1789 p.P597A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 24 4 14.29 25 0 0.00 ATM 472 genome.wustl.edu 37 11 108123635 108123635 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 108123635 108123635 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.1894 p.E632K 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 31 7 18.42 41 0 0.00 ATM 472 genome.wustl.edu 37 11 108129735 108129735 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 108129735 108129735 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.2399 p.S800F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 24 24 50.00 81 0 0.00 ATM 472 genome.wustl.edu 37 11 108129735 108129735 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 108129735 108129735 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.2399 p.S800F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 29 28 47.46 45 0 0.00 ATM 472 genome.wustl.edu 37 11 108150308 108150308 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 108150308 108150308 G C SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.3375 p.L1125F 0.889 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 10 4 28.57 20 0 0.00 ATM 472 genome.wustl.edu 37 11 108153542 108153542 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 108153542 108153542 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.3682 p.E1228K 0.994 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 18 4 18.18 31 0 0.00 ATM 472 genome.wustl.edu 37 11 108160402 108160402 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 108160402 108160402 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.4310 p.R1437K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 19 15 44.12 45 0 0.00 ATM 472 genome.wustl.edu 37 11 108178704 108178704 + Nonsense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 108178704 108178704 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known nonsense c.5755 p.Q1919* 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 38 10 20.41 58 0 0.00 ATM 472 genome.wustl.edu 37 11 108199914 108199914 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 108199914 108199914 G C SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.7256 p.R2419T 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 3 20 86.96 42 0 0.00 ATM 472 genome.wustl.edu 37 11 108236094 108236094 + Frame_Shift_Del DEL A A - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 108236094 108236094 A - DEL ATM ENST00000278616 human ensembl 70_37 +1 known frame_shift_del c.9030 p.M3011fs 0.996 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 10 2 16.67 53 0 0.00 ATMIN 23300 genome.wustl.edu 37 16 81075907 81075907 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 81075907 81075907 G C SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.484 p.E162Q 1.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 59 43 42.16 107 0 0.00 ATMIN 23300 genome.wustl.edu 37 16 81077772 81077772 + Nonsense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 16 81077772 81077772 C T SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known nonsense c.1669 p.Q557* 0.925 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 21 13 38.24 57 0 0.00 ATMIN 23300 genome.wustl.edu 37 16 81077781 81077781 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 81077781 81077781 G C SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.1678 p.E560Q 0.642 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 37 14 27.45 46 0 0.00 ATMIN 23300 genome.wustl.edu 37 16 81077959 81077959 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 81077959 81077959 G A SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.1856 p.G619E 0.819 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 59 9 13.24 65 0 0.00 ATMIN 23300 genome.wustl.edu 37 16 81078778 81078778 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 81078778 81078778 C G SNP ATMIN ENST00000539819 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors ATMIN HGNC ENSG00000166454 73 20 21.51 86 0 0.00 ATN1 1822 genome.wustl.edu 37 12 7043362 7043362 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 7043362 7043362 G C SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.51 p.K17N 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 54 8 12.90 63 0 0.00 ATN1 1822 genome.wustl.edu 37 12 7045670 7045670 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7045670 7045670 C T SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.1240 p.P414S 0.929 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 48 14 22.22 38 0 0.00 ATN1 1822 genome.wustl.edu 37 12 7047686 7047686 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 7047686 7047686 C G SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.2560 p.L854V 0.998 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 27 9 25.00 24 0 0.00 ATN1 1822 genome.wustl.edu 37 12 7047952 7047952 + Silent SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 7047952 7047952 C A SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known silent c.2826 p.L942 0.974 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 34 18 34.62 40 0 0.00 ATN1 1822 genome.wustl.edu 37 12 7048166 7048166 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7048166 7048166 G C SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.3040 p.D1014H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 58 30 34.09 92 0 0.00 ATOH1 474 genome.wustl.edu 37 4 94750328 94750328 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 94750328 94750328 C T SNP ATOH1 ENST00000306011 human ensembl 70_37 +1 known missense c.251 p.S84F 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH1 HGNC ENSG00000172238 24 22 47.83 34 0 0.00 ATOH1 474 genome.wustl.edu 37 4 94750668 94750668 + Silent SNP A A G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 94750668 94750668 A G SNP ATOH1 ENST00000306011 human ensembl 70_37 +1 known silent c.591 p.K197 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH1 HGNC ENSG00000172238 43 12 21.82 97 0 0.00 ATOH8 84913 genome.wustl.edu 37 2 85982063 85982063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 85982063 85982063 G C SNP ATOH8 ENST00000306279 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH8 HGNC ENSG00000168874 32 13 28.89 25 0 0.00 ATOH8 84913 genome.wustl.edu 37 2 85982063 85982063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 85982063 85982063 G C SNP ATOH8 ENST00000306279 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH8 HGNC ENSG00000168874 33 6 15.00 38 0 0.00 ATOH8 84913 genome.wustl.edu 37 2 86014109 86014109 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 86014109 86014109 C T SNP ATOH8 ENST00000469442 human ensembl 70_37 +1 known rna NULL NULL 0.546 - - - no_errors ATOH8 HGNC ENSG00000168874 32 19 37.25 63 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25924953 25924953 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25924953 25924953 C A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.4035 p.K1345N 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 11 8 42.11 31 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25932912 25932912 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 25932912 25932912 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.3229 p.H1077Y 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 73 11 13.10 61 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25940070 25940070 + Missense_Mutation SNP G G T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 25940070 25940070 G T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.2984 p.A995D 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 42 5 10.64 57 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25953178 25953178 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 25953178 25953178 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known silent c.2520 p.S840 0.036 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 37 5 11.90 17 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25958932 25958932 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 25958932 25958932 C T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.2233 p.V745I 0.997 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 67 15 18.29 73 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25966967 25966967 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 15 25966967 25966967 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known silent c.1200 p.D400 0.300 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 47 22 31.88 86 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25972339 25972339 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 25972339 25972339 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.815 p.T272M 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 34 22 39.29 28 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 25972339 25972339 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 25972339 25972339 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.815 p.T272M 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 43 42 49.41 75 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 26107970 26107970 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 26107970 26107970 C T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.274 p.V92I 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 128 53 29.28 168 0 0.00 ATP10A 57194 genome.wustl.edu 37 15 26108099 26108099 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 26108099 26108099 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.145 p.R49W 0.039 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 10 3 23.08 15 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160042920 160042920 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 160042920 160042920 C T SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.2578 p.E860K 0.991 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 79 35 30.70 55 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160047705 160047705 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 160047705 160047705 C T SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.2065 p.D689N 0.966 superfamily_HAD-like_dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 22 15 40.54 30 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160047923 160047923 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 5 160047923 160047923 G A SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.1847 p.T616M 0.000 superfamily_HAD-like_dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 26 15 36.59 40 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160071195 160071195 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 160071195 160071195 C A SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.818 p.G273V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 15 42 73.68 32 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160071195 160071195 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 160071195 160071195 C A SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.818 p.G273V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 22 44 66.67 59 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160071212 160071212 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 160071212 160071212 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.801 p.E267D 0.999 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 68 25 26.88 74 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160114820 160114820 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 160114820 160114820 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.998 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 58 36 38.30 78 0 0.00 ATP10B 23120 genome.wustl.edu 37 5 160114974 160114974 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 160114974 160114974 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known silent c.108 p.G36 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 40 11 21.57 42 0 0.00 ATP10D 57205 genome.wustl.edu 37 4 47538781 47538781 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 47538781 47538781 G A SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.1222 p.D408N 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 16 17 51.52 32 0 0.00 ATP10D 57205 genome.wustl.edu 37 4 47565612 47565612 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 47565612 47565612 G A SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.2683 p.E895K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 35 14 28.57 74 0 0.00 ATP10D 57205 genome.wustl.edu 37 4 47584003 47584003 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 47584003 47584003 C T SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known silent c.3675 p.I1225 0.999 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 23 7 22.58 23 0 0.00 ATP10D 57205 genome.wustl.edu 37 4 47589060 47589060 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 47589060 47589060 A T SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.3778 p.I1260F 0.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 74 25 25.00 133 0 0.00 ATP11A 23250 genome.wustl.edu 37 13 113510282 113510282 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 113510282 113510282 G A SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known silent c.2301 p.L767 0.003 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 14 5 26.32 41 0 0.00 ATP11A 23250 genome.wustl.edu 37 13 113514622 113514622 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113514622 113514622 C G SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known missense c.2749 p.L917V 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 182 42 18.75 288 0 0.00 ATP11A 23250 genome.wustl.edu 37 13 113536242 113536242 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 113536242 113536242 C T SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known missense c.3440 p.S1147F 0.007 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 24 11 31.43 32 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182566281 182566281 + Nonsense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 182566281 182566281 G T SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known nonsense c.787 p.G263* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 18 3 14.29 25 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182575668 182575668 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 182575668 182575668 C A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known nonsense c.854 p.S285* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 12 3 20.00 42 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182583386 182583386 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 182583386 182583386 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.1343 p.G448E 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 148 35 19.02 196 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182587045 182587045 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 182587045 182587045 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.1792 p.E598K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 87 13 13.00 50 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182587084 182587085 + Frame_Shift_Ins INS - - A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 182587084 182587085 - A INS ATP11B ENST00000323116 human ensembl 70_37 +1 known frame_shift_ins c.1831_1832 p.T613fs 1.000:1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 32 18 36.00 22 0 0.00 ATP11B 23200 genome.wustl.edu 37 3 182597360 182597360 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 182597360 182597360 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.2329 p.E777K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 50 19 27.54 47 0 0.00 ATP11C 286410 genome.wustl.edu 37 X 138813883 138813883 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 138813883 138813883 G T SNP ATP11C ENST00000327569 human ensembl 70_37 -1 known nonsense c.3329 p.S1110* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ENSG00000101974 18 9 33.33 135 0 0.00 ATP11C 286410 genome.wustl.edu 37 X 139014191 139014191 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 139014191 139014191 C T SNP ATP11C ENST00000370557 human ensembl 70_37 -1 known missense c.11 p.R4Q 0.034 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ENSG00000101974 32 4 11.11 42 0 0.00 ATP12A 479 genome.wustl.edu 37 13 25262603 25262603 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 25262603 25262603 C G SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known silent c.375 p.L125 0.975 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 30 4 11.76 66 0 0.00 ATP12A 479 genome.wustl.edu 37 13 25266734 25266734 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 25266734 25266734 C A SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known silent c.1254 p.I418 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 38 24 38.71 52 0 0.00 ATP12A 479 genome.wustl.edu 37 13 25283926 25283926 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 25283926 25283926 A G SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known missense c.2741 p.D914G 0.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 21 5 19.23 44 0 0.00 ATP13A1 57130 genome.wustl.edu 37 19 19756497 19756497 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 19756497 19756497 C T SNP ATP13A1 ENST00000357324 human ensembl 70_37 -1 known missense c.3463 p.D1155N 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 23 12 34.29 44 0 0.00 ATP13A1 57130 genome.wustl.edu 37 19 19758021 19758021 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 19758021 19758021 C T SNP ATP13A1 ENST00000357324 human ensembl 70_37 -1 known missense c.3022 p.E1008K 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 82 27 24.77 139 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17312722 17312722 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17312722 17312722 C G SNP ATP13A2 ENST00000341676 human ensembl 70_37 -1 known missense c.3235 p.E1079Q 0.830 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 65 39 37.50 69 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17312811 17312811 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17312811 17312811 G A SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.3448 p.R1150W 0.924 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 24 6 20.00 27 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17313385 17313385 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17313385 17313385 G C SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known silent c.3150 p.V1050 0.998 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 109 34 23.78 142 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17322357 17322357 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17322357 17322357 G C SNP ATP13A2 ENST00000502860 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors ATP13A2 HGNC ENSG00000159363 27 27 49.09 65 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17326795 17326795 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17326795 17326795 G C SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.853 p.L285V 0.949 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 68 23 25.27 81 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17331879 17331879 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17331879 17331879 C T SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.278 p.R93K 0.997 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 45 33 42.31 47 0 0.00 ATP13A2 23400 genome.wustl.edu 37 1 17332006 17332006 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17332006 17332006 G A SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.151 p.H51Y 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 29 18 38.30 36 0 0.00 ATP13A4 84239 genome.wustl.edu 37 3 193120514 193120514 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 193120514 193120514 G A SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.3518 p.S1173F 0.996 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 150 39 20.63 47 0 0.00 ATP13A4 84239 genome.wustl.edu 37 3 193171950 193171950 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 193171950 193171950 C T SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.1967 p.R656Q 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 28 17 37.78 44 0 0.00 ATP13A4 84239 genome.wustl.edu 37 3 193174915 193174915 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 193174915 193174915 G A SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.1789 p.H597Y 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 115 40 25.81 81 0 0.00 ATP13A4 84239 genome.wustl.edu 37 3 193210717 193210717 + Silent SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 193210717 193210717 T C SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known silent c.522 p.E174 0.999 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 35 50 58.82 32 0 0.00 ATP13A4 84239 genome.wustl.edu 37 3 193210784 193210784 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 193210784 193210784 G C SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.455 p.S152C 0.046 smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ENSG00000127249 17 20 54.05 39 0 0.00 ATP13A4-AS1 101929198 genome.wustl.edu 37 3 193272443 193272446 + RNA DEL GTGT GTGT - TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 193272443 193272446 GTGT - DEL ATP13A4-AS1 ENST00000426459 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.003:0.002:0.001 - - - no_errors ATP13A4-AS1 HGNC ENSG00000225473 31 12 27.91 22 0 0.00 ATP13A5 344905 genome.wustl.edu 37 3 193081033 193081033 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 193081033 193081033 C G SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known missense c.376 p.E126Q 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 57 22 27.85 82 0 0.00 ATP13A5 344905 genome.wustl.edu 37 3 193081925 193081925 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 193081925 193081925 C A SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known nonsense c.208 p.E70* 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 25 6 19.35 46 0 0.00 ATP13A5 344905 genome.wustl.edu 37 3 193096463 193096463 + Nonsense_Mutation SNP C C A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 193096463 193096463 C A SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known nonsense c.52 p.E18* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 46 11 19.30 35 0 0.00 ATP1A1 476 genome.wustl.edu 37 1 116933017 116933017 + Frame_Shift_Del DEL G G - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 116933017 116933017 G - DEL ATP1A1 ENST00000295598 human ensembl 70_37 +1 known frame_shift_del c.1206 p.T403fs 0.946 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 36 20 35.71 51 0 0.00 ATP1A2 477 genome.wustl.edu 37 1 160093844 160093844 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 160093844 160093844 C A SNP ATP1A2 ENST00000361216 human ensembl 70_37 +1 known missense c.493 p.Q165K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A2 HGNC ENSG00000018625 72 26 26.53 76 0 0.00 ATP1A2 477 genome.wustl.edu 37 1 160095078 160095079 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160095078 160095079 - T INS ATP1A2 ENST00000468587 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ATP1A2 HGNC ENSG00000018625 14 13 48.15 21 0 0.00 ATP1A2 477 genome.wustl.edu 37 1 160095080 160095080 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160095080 160095080 G A SNP ATP1A2 ENST00000468587 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ATP1A2 HGNC ENSG00000018625 14 13 46.43 21 0 0.00 ATP1A2 477 genome.wustl.edu 37 1 160106421 160106421 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 160106421 160106421 C G SNP ATP1A2 ENST00000361216 human ensembl 70_37 +1 known missense c.2625 p.F875L 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A2 HGNC ENSG00000018625 42 17 28.81 39 0 0.00 ATP1A3 478 genome.wustl.edu 37 19 42479784 42479784 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 42479784 42479784 C T SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.2260 p.E754K 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 39 12 23.53 40 0 0.00 ATP1A3 478 genome.wustl.edu 37 19 42489283 42489283 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 42489283 42489283 G C SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.780 p.I260M 0.337 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 30 14 31.82 24 0 0.00 ATP1A3 478 genome.wustl.edu 37 19 42489498 42489498 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 42489498 42489498 C T SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known silent c.684 p.E228 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 25 13 34.21 41 0 0.00 ATP1A3 478 genome.wustl.edu 37 19 42490090 42490090 + Missense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 42490090 42490090 C A SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.532 p.G178W 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 33 4 10.81 41 0 0.00 ATP1A3 478 genome.wustl.edu 37 19 42492666 42492666 + Missense_Mutation SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 42492666 42492666 G A SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.55 p.R19C 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 27 15 35.71 38 0 0.00 ATP1A4 480 genome.wustl.edu 37 1 160124943 160124943 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 160124943 160124943 G A SNP ATP1A4 ENST00000368081 human ensembl 70_37 +1 known missense c.316 p.G106R 0.989 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 56 25 30.86 90 0 0.00 ATP1A4 480 genome.wustl.edu 37 1 160156142 160156142 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 160156142 160156142 C T SNP ATP1A4 ENST00000368081 human ensembl 70_37 +1 known missense c.3046 p.R1016C 0.989 tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 208 105 33.44 247 0 0.00 ATP1A4 480 genome.wustl.edu 37 1 160156477 160156477 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 160156477 160156477 G A SNP ATP1A4 ENST00000368081 human ensembl 70_37 +1 known silent c.3078 p.E1026 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 41 36 46.75 42 0 0.00 ATP1B1 481 genome.wustl.edu 37 1 169100675 169100675 + Missense_Mutation SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 169100675 169100675 A G SNP ATP1B1 ENST00000367815 human ensembl 70_37 +1 known missense c.794 p.N265S 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B1 HGNC ENSG00000143153 90 18 16.67 78 0 0.00 ATP1B3 483 genome.wustl.edu 37 3 141626075 141626075 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 141626075 141626075 C T SNP ATP1B3 ENST00000286371 human ensembl 70_37 +1 known missense c.305 p.S102L 0.787 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B3 HGNC ENSG00000069849 92 15 14.02 127 0 0.00 ATP1B3 483 genome.wustl.edu 37 3 141644553 141644553 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 141644553 141644553 G A SNP ATP1B3 ENST00000484727 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors ATP1B3 HGNC ENSG00000069849 23 13 36.11 17 0 0.00 ATP1B3 483 genome.wustl.edu 37 3 141644560 141644560 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141644560 141644560 C G SNP ATP1B3 ENST00000484727 human ensembl 70_37 +1 putative rna NULL NULL 0.975 - - - no_errors ATP1B3 HGNC ENSG00000069849 113 105 48.17 146 0 0.00 ATP1B4 23439 genome.wustl.edu 37 X 119509335 119509335 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 X 119509335 119509335 G A SNP ATP1B4 ENST00000218008 human ensembl 70_37 +1 known missense c.671 p.R224H 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC ENSG00000101892 142 40 21.86 279 0 0.00 ATP1B4 23439 genome.wustl.edu 37 X 119513442 119513442 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 119513442 119513442 G A SNP ATP1B4 ENST00000218008 human ensembl 70_37 +1 known missense c.1027 p.D343N 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC ENSG00000101892 42 14 25.00 48 0 0.00 ATP2A1 487 genome.wustl.edu 37 16 28893804 28893804 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28893804 28893804 G A SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known silent c.357 p.L119 0.989 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 57 10 14.93 62 0 0.00 ATP2A1 487 genome.wustl.edu 37 16 28911970 28911970 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28911970 28911970 C G SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.1833 p.I611M 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 57 10 14.93 48 0 0.00 ATP2A1 487 genome.wustl.edu 37 16 28912104 28912104 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 16 28912104 28912104 G A SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.1967 p.R656Q 0.999 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 36 6 14.29 42 0 0.00 ATP2A1 487 genome.wustl.edu 37 16 28913228 28913228 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 28913228 28913228 G C SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.2145 p.E715D 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 34 6 15.00 22 0 0.00 ATP2A2 488 genome.wustl.edu 37 12 110734533 110734533 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 110734533 110734533 G C SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.454 p.E152Q 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC ENSG00000174437 52 12 18.75 54 0 0.00 ATP2A2 488 genome.wustl.edu 37 12 110778588 110778588 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 110778588 110778588 G A SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.1886 p.G629D 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC ENSG00000174437 90 36 28.35 133 0 0.00 ATP2A2 488 genome.wustl.edu 37 12 110782767 110782767 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 110782767 110782767 C G SNP ATP2A2 ENST00000539276 human ensembl 70_37 +1 known missense c.2598 p.F866L 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A2 HGNC ENSG00000174437 61 51 45.54 62 0 0.00 ATP2A3 489 genome.wustl.edu 37 17 3833611 3833611 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 3833611 3833611 A G SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2728 p.C910R 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ENSG00000074370 14 14 50.00 34 0 0.00 ATP2A3 489 genome.wustl.edu 37 17 3839609 3839609 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 3839609 3839609 C T SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2476 p.E826K 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ENSG00000074370 53 13 19.40 74 0 0.00 ATP2A3 489 genome.wustl.edu 37 17 3839724 3839724 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 3839724 3839724 C T SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known silent c.2361 p.L787 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ENSG00000074370 70 15 17.65 78 0 0.00 ATP2A3 489 genome.wustl.edu 37 17 3840822 3840822 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 3840822 3840822 C G SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2209 p.D737H 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ENSG00000074370 39 26 40.00 78 0 0.00 ATP2B1 490 genome.wustl.edu 37 12 90003733 90003733 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 90003733 90003733 G T SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2423 p.A808E 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 24 3 11.11 48 0 0.00 ATP2B1 490 genome.wustl.edu 37 12 90003751 90003751 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 90003751 90003751 C A SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2405 p.G802V 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 9 3 25.00 25 0 0.00 ATP2B1 490 genome.wustl.edu 37 12 90005126 90005126 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 90005126 90005126 A C SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2091 p.C697W 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 17 12 41.38 53 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10370260 10370260 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 10370260 10370260 C A SNP ATP2B2 ENST00000467702 human ensembl 70_37 -1 known rna NULL NULL 0.852 - - - no_errors ATP2B2 HGNC ENSG00000157087 54 9 14.29 25 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10370484 10370484 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 10370484 10370484 G A SNP ATP2B2 ENST00000467702 human ensembl 70_37 -1 known rna NULL NULL 0.553 - - - no_errors ATP2B2 HGNC ENSG00000157087 28 14 32.56 39 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10377945 10377945 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 10377945 10377945 G A SNP ATP2B2 ENST00000460129 human ensembl 70_37 -1 known nonsense c.3325 p.Q1109* 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 30 19 38.78 66 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10384497 10384497 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 10384497 10384497 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.2856 p.M952I 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 82 22 21.15 86 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10384561 10384561 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 10384561 10384561 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.2792 p.T931M 0.997 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 28 18 39.13 53 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10387122 10387122 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 10387122 10387122 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known silent c.2649 p.L883 0.843 tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 98 30 23.44 131 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10413730 10413730 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 10413730 10413730 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.1422 p.M474I 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 46 8 14.81 43 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10417157 10417157 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 10417157 10417157 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.1373 p.G458E 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 5 4 44.44 23 0 0.00 ATP2B2 491 genome.wustl.edu 37 3 10443974 10443974 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 10443974 10443974 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known silent c.456 p.I152 0.998 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 12 7 36.84 24 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152801868 152801868 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde X 152801868 152801868 G T SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known missense c.163 p.D55Y 0.998 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 118 42 26.25 136 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152806980 152806980 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152806980 152806980 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.372 p.L124 0.546 smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 93 32 25.60 100 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152807332 152807332 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 152807332 152807332 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.612 p.L204 0.617 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 13 21 61.76 38 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152807877 152807877 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 152807877 152807877 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known nonsense c.761 p.S254* 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 26 10 27.03 65 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152808574 152808574 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 152808574 152808574 C T SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.864 p.I288 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 67 9 11.84 84 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152815583 152815583 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 152815583 152815583 G A SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.1662 p.L554 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 147 43 22.51 30 0 0.00 ATP2B3 492 genome.wustl.edu 37 X 152825250 152825250 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 152825250 152825250 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known missense c.2689 p.L897V 0.998 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 135 37 21.51 111 1 0.89 ATP2B4 493 genome.wustl.edu 37 1 203668790 203668790 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 203668790 203668790 C T SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known silent c.594 p.L198 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 56 14 20.00 66 0 0.00 ATP2B4 493 genome.wustl.edu 37 1 203672793 203672793 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 203672793 203672793 C T SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known silent c.951 p.D317 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 75 28 26.92 111 0 0.00 ATP2B4 493 genome.wustl.edu 37 1 203693066 203693066 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 203693066 203693066 C G SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3082 p.Q1028E 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 51 9 15.00 27 0 0.00 ATP2B4 493 genome.wustl.edu 37 1 203696622 203696622 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203696622 203696622 G C SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3232 p.E1078Q 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 46 60 55.56 105 1 0.94 ATP2B4 493 genome.wustl.edu 37 1 203696628 203696628 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 203696628 203696628 G C SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3238 p.D1080H 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 46 20 30.30 98 0 0.00 ATP2B4 493 genome.wustl.edu 37 1 203696817 203696817 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203696817 203696817 G A SNP ATP2B4 ENST00000466407 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP2B4 HGNC ENSG00000058668 15 13 46.43 26 0 0.00 ATP2B4 493 genome.wustl.edu 37 1 203708795 203708795 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 203708795 203708795 G A SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3431 p.R1144Q 0.938 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 69 43 38.39 76 0 0.00 ATP2C1 27032 genome.wustl.edu 37 3 130735010 130735010 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 130735010 130735010 G C SNP ATP2C1 ENST00000393221 human ensembl 70_37 +1 known missense c.2841 p.E947D 0.216 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C1 HGNC ENSG00000017260 112 18 13.85 77 0 0.00 ATP2C2 9914 genome.wustl.edu 37 16 84456298 84456298 + Nonsense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 84456298 84456298 G T SNP ATP2C2 ENST00000262429 human ensembl 70_37 +1 known nonsense c.838 p.E280* 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 18 3 14.29 37 0 0.00 ATP2C2 9914 genome.wustl.edu 37 16 84497327 84497327 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 84497327 84497327 G A SNP ATP2C2 ENST00000262429 human ensembl 70_37 +1 known missense c.2830 p.E944K 0.001 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 64 23 26.14 85 0 0.00 ATP4A 495 genome.wustl.edu 37 19 36045926 36045926 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 36045926 36045926 C T SNP ATP4A ENST00000262623 human ensembl 70_37 -1 known silent c.2379 p.K793 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ENSG00000105675 51 13 20.31 63 0 0.00 ATP4A 495 genome.wustl.edu 37 19 36054415 36054415 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 36054415 36054415 G C SNP ATP4A ENST00000262623 human ensembl 70_37 -1 known silent c.27 p.L9 0.836 pfam_ATPase_P-typ_H/K-transp_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ENSG00000105675 45 9 16.67 35 0 0.00 ATP5B 506 genome.wustl.edu 37 12 57033096 57033096 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 57033096 57033096 G A SNP ATP5B ENST00000551182 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors ATP5B HGNC ENSG00000110955 6 3 33.33 23 0 0.00 ATP5C1 509 genome.wustl.edu 37 10 7842008 7842008 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 7842008 7842008 G A SNP ATP5C1 ENST00000356708 human ensembl 70_37 +1 known silent c.591 p.K197 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 23 24 51.06 54 0 0.00 ATP5D 513 genome.wustl.edu 37 19 1242460 1242460 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1242460 1242460 C T SNP ATP5D ENST00000215375 human ensembl 70_37 +1 known silent c.147 p.F49 0.999 pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC ENSG00000099624 17 10 37.04 35 0 0.00 ATP5D 513 genome.wustl.edu 37 19 1242530 1242530 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 1242530 1242530 C T SNP ATP5D ENST00000215375 human ensembl 70_37 +1 known missense c.217 p.H73Y 1.000 pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC ENSG00000099624 24 12 33.33 39 0 0.00 ATP5F1 515 genome.wustl.edu 37 1 111992026 111992026 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 111992026 111992026 C A SNP ATP5F1 ENST00000493119 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP5F1 HGNC ENSG00000116459 34 9 20.93 32 0 0.00 ATP5F1 515 genome.wustl.edu 37 1 111998857 111998857 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111998857 111998857 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.373 p.D125N 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ENSG00000116459 28 8 22.22 48 0 0.00 ATP5F1 515 genome.wustl.edu 37 1 111999270 111999270 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 111999270 111999270 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.406 p.E136K 0.967 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ENSG00000116459 69 19 21.59 54 0 0.00 ATP5F1 515 genome.wustl.edu 37 1 112002183 112002183 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 112002183 112002183 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.618 p.M206I 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ENSG00000116459 32 15 31.91 40 0 0.00 ATP5F1 515 genome.wustl.edu 37 1 112002183 112002183 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 112002183 112002183 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.618 p.M206I 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ENSG00000116459 70 18 20.45 101 0 0.00 ATP5G3 518 genome.wustl.edu 37 2 176043891 176043891 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 176043891 176043891 C A SNP ATP5G3 ENST00000284727 human ensembl 70_37 -1 known missense c.208 p.D70Y 1.000 superfamily_ATPase_F0/V0-cplx_csu pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu - no_errors ATP5G3 HGNC ENSG00000154518 29 8 21.62 39 0 0.00 ATP5H 10476 genome.wustl.edu 37 17 73035359 73035359 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73035359 73035359 G T SNP ATP5H ENST00000301587 human ensembl 70_37 -1 known missense c.299 p.S100Y 0.001 pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt - no_errors ATP5H HGNC ENSG00000167863 29 18 38.30 80 0 0.00 ATP5I 521 genome.wustl.edu 37 4 668037 668037 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 668037 668037 C G SNP ATP5I ENST00000505852 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors ATP5I HGNC ENSG00000169020 40 10 20.00 112 0 0.00 ATP5J 522 genome.wustl.edu 37 21 27090013 27090013 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 27090013 27090013 G C SNP ATP5J ENST00000400099 human ensembl 70_37 -1 putative missense c.348 p.I116M 0.205 NULL pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ENSG00000154723 29 16 35.56 26 0 0.00 ATP5J 522 genome.wustl.edu 37 21 27102096 27102096 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 27102096 27102096 G A SNP ATP5J ENST00000457143 human ensembl 70_37 -1 known nonsense c.34 p.Q12* 1.000 pfam_ATPase_F0-cplx_f6su_mt pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ENSG00000154723 28 10 26.32 40 0 0.00 ATP5L2 267020 genome.wustl.edu 37 22 43036172 43036172 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 43036172 43036172 C T SNP ATP5L2 ENST00000505920 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met - no_errors ATP5L2 HGNC ENSG00000249222 18 8 30.77 22 0 0.00 ATP5SL 55101 genome.wustl.edu 37 19 41944235 41944235 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 41944235 41944235 G A SNP ATP5SL ENST00000417807 human ensembl 70_37 -1 known nonsense c.121 p.Q41* 0.001 NULL NULL - no_errors ATP5SL HGNC ENSG00000105341 96 37 27.82 130 0 0.00 ATP6AP1 537 genome.wustl.edu 37 X 153657145 153657145 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 153657145 153657145 C T SNP ATP6AP1 ENST00000369762 human ensembl 70_37 +1 known missense c.107 p.A36V 0.000 NULL pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 2 6 75.00 14 0 0.00 ATP6AP1 537 genome.wustl.edu 37 X 153662561 153662561 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153662561 153662561 G A SNP ATP6AP1 ENST00000369762 human ensembl 70_37 +1 known missense c.692 p.R231H 0.332 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 117 19 13.97 152 0 0.00 ATP6AP1L 92270 genome.wustl.edu 37 5 81613843 81613843 + Silent SNP A A C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 81613843 81613843 A C SNP ATP6AP1L ENST00000380167 human ensembl 70_37 +1 known silent c.399 p.G133 0.000 NULL NULL - no_errors ATP6AP1L HGNC ENSG00000205464 41 30 42.25 86 0 0.00 ATP6AP1L 92270 genome.wustl.edu 37 5 81614027 81614027 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 81614027 81614027 C T SNP ATP6AP1L ENST00000380167 human ensembl 70_37 +1 known nonsense c.583 p.R195* 0.000 NULL NULL - no_errors ATP6AP1L HGNC ENSG00000205464 31 7 18.42 58 0 0.00 ATP6AP2 10159 genome.wustl.edu 37 X 40464971 40464971 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40464971 40464971 T G SNP ATP6AP2 ENST00000378438 human ensembl 70_37 +1 known missense c.1017 p.I339M 1.000 pfam_Renin_rcpt pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 17 7 29.17 51 0 0.00 ATP6V0A1 535 genome.wustl.edu 37 17 40618526 40618526 + Splice_Site SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 40618526 40618526 G C SNP ATP6V0A1 ENST00000264649 human ensembl 70_37 +1 known splice_site c.196+1 e2+1 1.000 - - - no_errors ATP6V0A1 HGNC ENSG00000033627 34 18 34.62 65 0 0.00 ATP6V0A1 535 genome.wustl.edu 37 17 40652734 40652734 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 40652734 40652734 G A SNP ATP6V0A1 ENST00000264649 human ensembl 70_37 +1 known silent c.1710 p.K570 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A1 HGNC ENSG00000033627 47 20 29.85 31 0 0.00 ATP6V0A1 535 genome.wustl.edu 37 17 40672680 40672680 + Splice_Site SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 40672680 40672680 G T SNP ATP6V0A1 ENST00000587797 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors ATP6V0A1 HGNC ENSG00000033627 8 3 27.27 20 0 0.00 ATP6V0A1 535 genome.wustl.edu 37 17 40673241 40673241 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40673241 40673241 C T SNP ATP6V0A1 ENST00000587299 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors ATP6V0A1 HGNC ENSG00000033627 30 5 14.29 30 0 0.00 ATP6V0A2 23545 genome.wustl.edu 37 12 124228764 124228764 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124228764 124228764 C T SNP ATP6V0A2 ENST00000330342 human ensembl 70_37 +1 known silent c.1206 p.I402 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A2 HGNC ENSG00000185344 62 10 13.89 97 0 0.00 ATP6V0A4 50617 genome.wustl.edu 37 7 138417639 138417639 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 7 138417639 138417639 G T SNP ATP6V0A4 ENST00000310018 human ensembl 70_37 -1 known missense c.1891 p.P631T 0.999 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A4 HGNC ENSG00000105929 17 7 29.17 47 0 0.00 ATP6V0A4 50617 genome.wustl.edu 37 7 138455977 138455977 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 138455977 138455977 G A SNP ATP6V0A4 ENST00000310018 human ensembl 70_37 -1 known nonsense c.16 p.R6* 1.000 NULL pfam_ATPase_V0/A0_a - no_errors ATP6V0A4 HGNC ENSG00000105929 44 17 27.87 61 0 0.00 ATP6V0A4 50617 genome.wustl.edu 37 7 138482973 138482973 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 138482973 138482973 G C SNP ATP6V0A4 ENST00000479909 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors ATP6V0A4 HGNC ENSG00000105929 52 26 33.33 36 0 0.00 ATP6V0B 533 genome.wustl.edu 37 1 44441362 44441362 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 44441362 44441362 G A SNP ATP6V0B ENST00000461670 human ensembl 70_37 +1 known silent c.93 p.L31 0.000 NULL NULL - no_errors ATP6V0B HGNC ENSG00000117410 28 7 20.00 40 0 0.00 ATP6V0B 533 genome.wustl.edu 37 1 44441391 44441391 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44441391 44441391 C G SNP ATP6V0B ENST00000461670 human ensembl 70_37 +1 known nonsense c.122 p.S41* 0.001 NULL NULL - no_errors ATP6V0B HGNC ENSG00000117410 55 29 34.52 69 0 0.00 ATP6V0B 533 genome.wustl.edu 37 1 44442474 44442474 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44442474 44442474 C T SNP ATP6V0B ENST00000472174 human ensembl 70_37 +1 known silent c.378 p.I126 0.999 NULL pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu - no_errors ATP6V0B HGNC ENSG00000117410 34 21 38.18 34 0 0.00 ATP6V0D1 9114 genome.wustl.edu 37 16 67487585 67487585 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 67487585 67487585 C T SNP ATP6V0D1 ENST00000290949 human ensembl 70_37 -1 known missense c.164 p.G55D 1.000 pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 32 5 13.51 43 0 0.00 ATP6V0D1 9114 genome.wustl.edu 37 16 67514899 67514899 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 67514899 67514899 C T SNP ATP6V0D1 ENST00000290949 human ensembl 70_37 -1 known missense c.91 p.A31T 1.000 pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 17 5 22.73 55 0 0.00 ATP6V0D2 245972 genome.wustl.edu 37 8 87111214 87111214 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 87111214 87111214 G C SNP ATP6V0D2 ENST00000285393 human ensembl 70_37 +1 known missense c.7 p.E3Q 0.013 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 78 21 21.21 71 0 0.00 ATP6V0E2 155066 genome.wustl.edu 37 7 149571037 149571037 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 149571037 149571037 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.30 p.I10 0.000 NULL pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC ENSG00000171130 13 14 51.85 34 0 0.00 ATP6V0E2 155066 genome.wustl.edu 37 7 149571220 149571220 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 149571220 149571220 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.213 p.I71 1.000 pfam_ATPase_V0-cplx_esu pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC ENSG00000171130 33 6 15.38 24 0 0.00 ATP6V0E2 155066 genome.wustl.edu 37 7 149571220 149571220 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149571220 149571220 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.213 p.I71 1.000 pfam_ATPase_V0-cplx_esu pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC ENSG00000171130 15 4 21.05 26 0 0.00 ATP6V0E2-AS1 401431 genome.wustl.edu 37 7 149570599 149570599 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 149570599 149570599 G A SNP ATP6V0E2-AS1 ENST00000461019 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V0E2-AS1 HGNC ENSG00000204934 1 6 85.71 14 0 0.00 ATP6V1A 523 genome.wustl.edu 37 3 113507617 113507617 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113507617 113507617 G A SNP ATP6V1A ENST00000273398 human ensembl 70_37 +1 known silent c.774 p.V258 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 73 31 29.81 40 0 0.00 ATP6V1A 523 genome.wustl.edu 37 3 113513779 113513779 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 113513779 113513779 C G SNP ATP6V1A ENST00000273398 human ensembl 70_37 +1 known missense c.1049 p.S350C 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 24 7 22.58 49 0 0.00 ATP6V1B1 525 genome.wustl.edu 37 2 71187139 71187139 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 71187139 71187139 C T SNP ATP6V1B1 ENST00000234396 human ensembl 70_37 +1 known silent c.516 p.D172 0.726 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 15 11 42.31 28 0 0.00 ATP6V1B2 526 genome.wustl.edu 37 8 20055039 20055039 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 20055039 20055039 C G SNP ATP6V1B2 ENST00000276390 human ensembl 70_37 +1 known missense c.122 p.S41C 1.000 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 9 2 18.18 17 0 0.00 ATP6V1B2 526 genome.wustl.edu 37 8 20070411 20070411 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 20070411 20070411 C T SNP ATP6V1B2 ENST00000276390 human ensembl 70_37 +1 known nonsense c.922 p.R308* 0.998 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 43 26 37.68 81 0 0.00 ATP6V1C2 245973 genome.wustl.edu 37 2 10914999 10914999 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 10914999 10914999 G T SNP ATP6V1C2 ENST00000272238 human ensembl 70_37 +1 known nonsense c.724 p.E242* 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 23 4 14.81 49 0 0.00 ATP6V1C2 245973 genome.wustl.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 2 10917819 10917820 AG - DEL ATP6V1C2 ENST00000272238 human ensembl 70_37 +1 known frame_shift_del c.934_935 p.E315fs 1.000:1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 19 3 13.64 29 0 0.00 ATP6V1E2 90423 genome.wustl.edu 37 2 46739562 46739562 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 46739562 46739562 C T SNP ATP6V1E2 ENST00000306448 human ensembl 70_37 -1 known missense c.289 p.E97K 0.497 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E2 HGNC ENSG00000250565 20 10 33.33 38 0 0.00 ATP6V1E2 90423 genome.wustl.edu 37 2 46739842 46739842 + Silent SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 46739842 46739842 C G SNP ATP6V1E2 ENST00000306448 human ensembl 70_37 -1 known silent c.9 p.L3 0.998 NULL pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E2 HGNC ENSG00000250565 33 15 31.25 48 0 0.00 ATP6V1F 9296 genome.wustl.edu 37 7 128505196 128505196 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 128505196 128505196 A T SNP ATP6V1F ENST00000492758 human ensembl 70_37 +1 novel missense c.181 p.S61C 0.001 pirsf_ATPase_V1-cplx_fsu_euk pfam_ATPase_V1/A1-cplx_fsu,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk - no_errors ATP6V1F HGNC ENSG00000128524 42 10 19.23 28 0 0.00 ATP6V1G1 9550 genome.wustl.edu 37 9 117350073 117350073 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 117350073 117350073 C T SNP ATP6V1G1 ENST00000473413 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G1 HGNC ENSG00000136888 26 15 36.59 65 0 0.00 ATP6V1G2 534 genome.wustl.edu 37 6 31513120 31513120 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31513120 31513120 G A SNP ATP6V1G2 ENST00000483170 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G2 HGNC ENSG00000213760 27 10 27.03 38 0 0.00 ATP7A 538 genome.wustl.edu 37 X 77254035 77254035 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 77254035 77254035 C T SNP ATP7A ENST00000341514 human ensembl 70_37 +1 known missense c.1397 p.S466L 0.002 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 15 5 25.00 14 0 0.00 ATP7A 538 genome.wustl.edu 37 X 77264738 77264738 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 77264738 77264738 G A SNP ATP7A ENST00000341514 human ensembl 70_37 +1 known missense c.1847 p.R616K 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 133 29 17.90 94 0 0.00 ATP7A 538 genome.wustl.edu 37 X 77289250 77289250 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 77289250 77289250 G T SNP ATP7A ENST00000341514 human ensembl 70_37 +1 known missense c.3442 p.V1148F 0.992 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 53 40 43.01 61 0 0.00 ATP7B 540 genome.wustl.edu 37 13 52511638 52511638 + Nonsense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 13 52511638 52511638 C A SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known nonsense c.3877 p.E1293* 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 30 16 34.78 48 0 0.00 ATP7B 540 genome.wustl.edu 37 13 52515301 52515301 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 52515301 52515301 C T SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.3472 p.G1158S 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 61 11 15.28 62 0 0.00 ATP7B 540 genome.wustl.edu 37 13 52518268 52518268 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 52518268 52518268 C T SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.3220 p.A1074T 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 29 4 12.12 42 0 0.00 ATP7B 540 genome.wustl.edu 37 13 52548749 52548749 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 52548749 52548749 C A SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.607 p.D203Y 0.988 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 59 15 20.27 40 0 0.00 ATP7B 540 genome.wustl.edu 37 13 52548826 52548826 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 52548826 52548826 G C SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known nonsense c.530 p.S177* 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 39 33 45.83 69 0 0.00 ATP8A1 10396 genome.wustl.edu 37 4 42457436 42457436 + Missense_Mutation SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 42457436 42457436 T A SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.2695 p.M899L 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A1 HGNC ENSG00000124406 30 19 38.78 44 0 0.00 ATP8A1 10396 genome.wustl.edu 37 4 42467017 42467017 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 42467017 42467017 C G SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.2401 p.D801H 0.999 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A1 HGNC ENSG00000124406 65 19 22.62 97 0 0.00 ATP8A1 10396 genome.wustl.edu 37 4 42554617 42554617 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 42554617 42554617 G T SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.1424 p.P475H 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A1 HGNC ENSG00000124406 18 4 18.18 18 0 0.00 ATP8A2 51761 genome.wustl.edu 37 13 26145785 26145785 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 26145785 26145785 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known silent c.1617 p.G539 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A2 HGNC ENSG00000132932 66 21 24.14 90 0 0.00 ATP8A2 51761 genome.wustl.edu 37 13 26343298 26343298 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 26343298 26343298 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known silent c.2499 p.H833 0.004 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A2 HGNC ENSG00000132932 69 16 18.82 97 0 0.00 ATP8A2 51761 genome.wustl.edu 37 13 26413729 26413729 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 26413729 26413729 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known missense c.2923 p.L975F 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A2 HGNC ENSG00000132932 53 64 54.70 128 0 0.00 ATP8A2 51761 genome.wustl.edu 37 13 26501335 26501335 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 26501335 26501335 G A SNP ATP8A2 ENST00000491840 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP8A2 HGNC ENSG00000132932 25 7 21.88 40 0 0.00 ATP8A2 51761 genome.wustl.edu 37 13 26501421 26501421 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 26501421 26501421 G C SNP ATP8A2 ENST00000491840 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors ATP8A2 HGNC ENSG00000132932 4 6 60.00 11 0 0.00 ATP8B1 5205 genome.wustl.edu 37 18 55319361 55319361 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 55319361 55319361 G T SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.3305 p.S1102* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 17 4 18.18 25 0 0.00 ATP8B1 5205 genome.wustl.edu 37 18 55322503 55322503 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 18 55322503 55322503 G A SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.2854 p.R952* 0.974 tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 61 12 16.44 61 0 0.00 ATP8B1 5205 genome.wustl.edu 37 18 55362544 55362544 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 55362544 55362544 C A SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.799 p.E267* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 18 12 40.00 49 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154304127 154304127 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 154304127 154304127 C T SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known silent c.510 p.I170 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 107 34 24.11 96 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154306643 154306643 + Nonsense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 154306643 154306643 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known nonsense c.749 p.W250* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 37 5 11.63 67 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154306644 154306644 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154306644 154306644 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known nonsense c.750 p.W250* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 27 24 47.06 56 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154309881 154309881 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154309881 154309881 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.994 p.E332K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 73 63 46.32 110 1 0.90 ATP8B2 57198 genome.wustl.edu 37 1 154310131 154310131 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 154310131 154310131 C T SNP ATP8B2 ENST00000368487 human ensembl 70_37 +1 known missense c.1145 p.S382F 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom - no_errors ATP8B2 HGNC ENSG00000143515 112 17 13.18 96 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154317602 154317602 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 154317602 154317602 C T SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known silent c.2541 p.D847 0.997 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 22 8 26.67 25 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154319136 154319136 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154319136 154319136 T A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.3164 p.F1055Y 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 49 35 41.18 95 0 0.00 ATP8B2 57198 genome.wustl.edu 37 1 154320997 154320997 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 154320997 154320997 C A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.3376 p.P1126T 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 31 4 11.43 47 0 0.00 ATP8B3 148229 genome.wustl.edu 37 19 1785261 1785261 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1785261 1785261 G A SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known silent c.3459 p.C1153 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 34 6 15.00 28 0 0.00 ATP8B3 148229 genome.wustl.edu 37 19 1785271 1785271 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 1785271 1785271 G C SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.3449 p.T1150S 0.986 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 21 13 38.24 22 0 0.00 ATP8B3 148229 genome.wustl.edu 37 19 1787158 1787158 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1787158 1787158 G T SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.3127 p.L1043I 0.899 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 21 10 32.26 32 0 0.00 ATP8B3 148229 genome.wustl.edu 37 19 1807256 1807256 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 1807256 1807256 C T SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.526 p.D176N 0.087 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 25 29 53.70 65 0 0.00 ATP8B4 79895 genome.wustl.edu 37 15 50152539 50152539 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 50152539 50152539 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.3431 p.S1144C 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 36 27 42.86 53 0 0.00 ATP8B4 79895 genome.wustl.edu 37 15 50264898 50264898 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 50264898 50264898 C T SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.1124 p.R375Q 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 50 35 41.18 76 0 0.00 ATP8B4 79895 genome.wustl.edu 37 15 50271846 50271846 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 50271846 50271846 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known silent c.1002 p.L334 0.999 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 34 15 30.61 40 0 0.00 ATP8B4 79895 genome.wustl.edu 37 15 50273469 50273469 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 50273469 50273469 C A SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.771 p.Q257H 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 26 19 42.22 33 0 0.00 ATP8B4 79895 genome.wustl.edu 37 15 50294401 50294401 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 50294401 50294401 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known nonsense c.455 p.S152* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 2 13 86.67 32 0 0.00 ATP8B5P 158381 genome.wustl.edu 37 9 35450039 35450039 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 35450039 35450039 C T SNP ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 0.772 - - - no_errors ATP8B5P HGNC ENSG00000179766 31 6 16.22 28 0 0.00 ATP8B5P 158381 genome.wustl.edu 37 9 35450348 35450348 + RNA SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 35450348 35450348 G T SNP ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATP8B5P HGNC ENSG00000179766 35 18 33.96 51 0 0.00 ATP8B5P 158381 genome.wustl.edu 37 9 35451103 35451104 + RNA INS - - A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 35451103 35451104 - A INS ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 0.651:0.639 - - - no_errors ATP8B5P HGNC ENSG00000179766 43 11 20.37 26 0 0.00 ATP8B5P 158381 genome.wustl.edu 37 9 35473766 35473766 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 35473766 35473766 G C SNP ATP8B5P ENST00000329395 human ensembl 70_37 +1 known rna NULL NULL 0.685 - - - no_errors ATP8B5P HGNC ENSG00000179766 49 44 47.31 41 0 0.00 ATP8B5P 158381 genome.wustl.edu 37 9 35480057 35480057 + RNA SNP T T A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 35480057 35480057 T A SNP ATP8B5P ENST00000329395 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATP8B5P HGNC ENSG00000179766 37 10 21.28 54 0 0.00 ATP9A 10079 genome.wustl.edu 37 20 50225060 50225060 + Silent SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 20 50225060 50225060 G C SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known silent c.2742 p.L914 0.993 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 60 11 15.49 59 0 0.00 ATP9A 10079 genome.wustl.edu 37 20 50287703 50287703 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 20 50287703 50287703 C T SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known silent c.1131 p.T377 0.104 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 22 4 15.38 38 0 0.00 ATP9A 10079 genome.wustl.edu 37 20 50346391 50346391 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 50346391 50346391 G T SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known missense c.195 p.F65L 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 105 47 30.92 138 0 0.00 ATP9B 374868 genome.wustl.edu 37 18 77067172 77067172 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 77067172 77067172 G A SNP ATP9B ENST00000426216 human ensembl 70_37 +1 known missense c.1711 p.A571T 0.149 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9B HGNC ENSG00000166377 39 5 11.36 28 0 0.00 ATP9B 374868 genome.wustl.edu 37 18 77107900 77107900 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 18 77107900 77107900 G T SNP ATP9B ENST00000426216 human ensembl 70_37 +1 known missense c.2813 p.R938M 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9B HGNC ENSG00000166377 29 4 12.12 58 0 0.00 ATPAF2 91647 genome.wustl.edu 37 17 17927999 17927999 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 17927999 17927999 C T SNP ATPAF2 ENST00000474627 human ensembl 70_37 -1 known missense c.442 p.E148K 1.000 pfam_ATP12_ATPase-F1F0-assembly pfam_ATP12_ATPase-F1F0-assembly - no_errors ATPAF2 HGNC ENSG00000171953 54 21 28.00 74 0 0.00 ATPAF2 91647 genome.wustl.edu 37 17 17942394 17942394 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17942394 17942394 C T SNP ATPAF2 ENST00000577586 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATPAF2 HGNC ENSG00000171953 82 26 24.07 63 0 0.00 DPH6 89978 genome.wustl.edu 37 15 35814434 35814434 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 35814434 35814434 G A SNP ATPBD4 ENST00000440392 human ensembl 70_37 -1 known missense c.358 p.L120F 1.000 NULL pfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC ENSG00000134146 14 11 44.00 38 0 0.00 DPH6 89978 genome.wustl.edu 37 15 35834625 35834625 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 35834625 35834625 G T SNP ATPBD4 ENST00000256538 human ensembl 70_37 -1 known missense c.107 p.A36D 1.000 pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC ENSG00000134146 23 4 14.81 24 0 0.00 ATPIF1 93974 genome.wustl.edu 37 1 28562908 28562908 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 28562908 28562908 G A SNP ATPIF1 ENST00000335514 human ensembl 70_37 +1 known missense c.124 p.E42K 1.000 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 67 20 22.99 96 0 0.00 ATPIF1 93974 genome.wustl.edu 37 1 28562944 28562944 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 28562944 28562944 G A SNP ATPIF1 ENST00000335514 human ensembl 70_37 +1 known missense c.160 p.E54K 0.998 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 32 5 13.51 81 0 0.00 ATPIF1 93974 genome.wustl.edu 37 1 28564291 28564291 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 28564291 28564291 G C SNP ATPIF1 ENST00000497986 human ensembl 70_37 +1 known missense c.199 p.E67Q 0.064 NULL pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 38 10 20.41 54 0 0.00 ATR 545 genome.wustl.edu 37 3 142178163 142178163 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 142178163 142178163 C T SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.7255 p.E2419K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 24 9 27.27 31 0 0.00 ATR 545 genome.wustl.edu 37 3 142180859 142180859 + Missense_Mutation SNP T T G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 142180859 142180859 T G SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.7115 p.D2372A 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 366 139 27.52 323 0 0.00 ATR 545 genome.wustl.edu 37 3 142184050 142184050 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 142184050 142184050 C G SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.6930 p.K2310N 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 51 11 17.74 57 0 0.00 ATR 545 genome.wustl.edu 37 3 142189021 142189021 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142189021 142189021 G C SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.6226 p.L2076V 0.995 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 53 16 23.19 35 0 0.00 ATR 545 genome.wustl.edu 37 3 142215295 142215295 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 142215295 142215295 G A SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.5806 p.H1936Y 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 76 24 24.00 94 0 0.00 ATR 545 genome.wustl.edu 37 3 142266662 142266662 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 142266662 142266662 G C SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.3262 p.Q1088E 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 35 19 35.19 53 0 0.00 ATR 545 genome.wustl.edu 37 3 142272219 142272219 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 142272219 142272219 T C SNP ATR ENST00000350721 human ensembl 70_37 -1 known silent c.2655 p.V885 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 94 11 10.48 64 0 0.00 ATRAID 51374 genome.wustl.edu 37 2 27435216 27435216 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27435216 27435216 G A SNP ATRAID ENST00000380171 human ensembl 70_37 +1 known missense c.145 p.G49R 0.000 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 12 13 52.00 23 0 0.00 ATRAID 51374 genome.wustl.edu 37 2 27438606 27438606 + Missense_Mutation SNP A A G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 27438606 27438606 A G SNP ATRAID ENST00000380171 human ensembl 70_37 +1 known missense c.637 p.N213D 0.995 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 108 50 31.65 111 0 0.00 ATRIP 84126 genome.wustl.edu 37 3 48488421 48488421 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 48488421 48488421 G A SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.172 p.D58N 0.995 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 41 15 26.79 32 0 0.00 ATRIP 84126 genome.wustl.edu 37 3 48502116 48502116 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 48502116 48502116 C G SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.1663 p.H555D 0.301 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 21 10 32.26 48 0 0.00 ATRIP 84126 genome.wustl.edu 37 3 48506424 48506424 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 48506424 48506424 G T SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.2250 p.Q750H 1.000 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 22 3 12.00 30 0 0.00 ATRIP 84126 genome.wustl.edu 37 3 48506952 48506952 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48506952 48506952 G A SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known silent c.2375 p.*792 0.997 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 38 10 20.83 34 0 0.00 ATRN 8455 genome.wustl.edu 37 20 3452162 3452162 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3452162 3452162 C T SNP ATRN ENST00000262919 human ensembl 70_37 +1 known silent c.408 p.F136 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 15 6 28.57 14 0 0.00 ATRN 8455 genome.wustl.edu 37 20 3605170 3605170 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 3605170 3605170 C T SNP ATRN ENST00000262919 human ensembl 70_37 +1 known nonsense c.3814 p.Q1272* 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 38 15 28.30 51 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 116919962 116919962 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 116919962 116919962 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known nonsense c.991 p.Q331* 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 23 13 36.11 41 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 117024752 117024752 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 117024752 117024752 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known silent c.1770 p.N590 1.000 pfam_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 18 13 41.94 33 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 117059712 117059712 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 117059712 117059712 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.2584 p.P862S 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 24 17 41.46 50 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 117228760 117228760 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 117228760 117228760 A C SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3575 p.E1192A 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 13 13 50.00 30 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 117228797 117228797 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 117228797 117228797 C G SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3612 p.F1204L 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 78 37 32.17 133 0 0.00 ATRNL1 26033 genome.wustl.edu 37 10 117607476 117607476 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 117607476 117607476 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3992 p.S1331L 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 22 15 40.54 20 0 0.00 ATRX 546 genome.wustl.edu 37 X 76761674 76761674 + RNA SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 76761674 76761674 G T SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors ATRX HGNC ENSG00000085224 4 4 50.00 9 0 0.00 ATRX 546 genome.wustl.edu 37 X 76762744 76762744 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 76762744 76762744 C T SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.930 - - - no_errors ATRX HGNC ENSG00000085224 116 20 14.60 63 0 0.00 ATRX 546 genome.wustl.edu 37 X 76763049 76763049 + RNA SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 76763049 76763049 T A SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.674 - - - no_errors ATRX HGNC ENSG00000085224 34 11 24.44 38 0 0.00 ATRX 546 genome.wustl.edu 37 X 76776919 76776919 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 76776919 76776919 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.7033 p.V2345M 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 19 4 17.39 24 0 0.00 ATRX 546 genome.wustl.edu 37 X 76778779 76778779 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 76778779 76778779 G T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.6800 p.T2267N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 31 27 46.55 27 0 0.00 ATRX 546 genome.wustl.edu 37 X 76814318 76814318 + Splice_Site SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 76814318 76814318 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known splice_site c.6327-1 e29-1 1.000 - - - no_errors ATRX HGNC ENSG00000085224 13 24 64.86 43 0 0.00 ATRX 546 genome.wustl.edu 37 X 76814318 76814318 + Splice_Site SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 76814318 76814318 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known splice_site c.6327-1 e29-1 1.000 - - - no_errors ATRX HGNC ENSG00000085224 26 35 57.38 42 0 0.00 ATRX 546 genome.wustl.edu 37 X 76856127 76856127 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 76856127 76856127 C A SNP ATRX ENST00000479487 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATRX HGNC ENSG00000085224 47 13 21.67 43 0 0.00 ATRX 546 genome.wustl.edu 37 X 76874309 76874309 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 76874309 76874309 G T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.5413 p.H1805N 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 39 16 29.09 88 0 0.00 ATRX 546 genome.wustl.edu 37 X 76874434 76874434 + Missense_Mutation SNP T T A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 76874434 76874434 T A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.5288 p.N1763I 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 35 13 27.08 50 0 0.00 ATRX 546 genome.wustl.edu 37 X 76891545 76891545 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 76891545 76891545 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known silent c.4560 p.V1520 0.562 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 57 78 57.35 98 0 0.00 ATRX 546 genome.wustl.edu 37 X 76938516 76938516 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 76938516 76938516 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.2232 p.M744I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 43 17 28.33 53 0 0.00 ATRX 546 genome.wustl.edu 37 X 76938673 76938673 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 76938673 76938673 G A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.2075 p.S692L 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 22 28 54.90 30 0 0.00 ATRX 546 genome.wustl.edu 37 X 76938875 76938875 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 76938875 76938875 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1873 p.E625Q 0.305 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 237 144 37.60 472 0 0.00 ATRX 546 genome.wustl.edu 37 X 76938875 76938875 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 76938875 76938875 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1873 p.E625Q 0.305 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 38 16 29.63 26 0 0.00 ATRX 546 genome.wustl.edu 37 X 76939255 76939255 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 76939255 76939255 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1493 p.R498T 0.953 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 85 22 20.56 88 0 0.00 ATRX 546 genome.wustl.edu 37 X 76949326 76949326 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 76949326 76949326 G A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known silent c.471 p.L157 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 67 8 10.39 42 0 0.00 ATXN1 6310 genome.wustl.edu 37 6 16326687 16326687 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 16326687 16326687 C T SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.1855 p.E619K 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 99 17 14.66 84 0 0.00 ATXN1 6310 genome.wustl.edu 37 6 16327014 16327014 + Missense_Mutation SNP T T C TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 16327014 16327014 T C SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.1528 p.T510A 0.966 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 10 56 84.85 80 0 0.00 ATXN1 6310 genome.wustl.edu 37 6 16327563 16327563 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 16327563 16327563 C T SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.979 p.E327K 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 39 62 61.39 56 0 0.00 ATXN1 6310 genome.wustl.edu 37 6 16327578 16327578 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 16327578 16327578 C G SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.964 p.E322Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 46 22 32.35 25 0 0.00 ATXN1 6310 genome.wustl.edu 37 6 16328526 16328526 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 16328526 16328526 C G SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.16 p.E6Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 6 4 40.00 9 0 0.00 ATXN10 25814 genome.wustl.edu 37 22 46189627 46189627 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 22 46189627 46189627 G A SNP ATXN10 ENST00000402380 human ensembl 70_37 +1 putative missense c.95 p.R32Q 0.000 NULL pfam_Ataxin-10_domain - no_errors ATXN10 HGNC ENSG00000130638 26 22 45.83 34 0 0.00 ATXN1L 342371 genome.wustl.edu 37 16 71885490 71885490 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 71885490 71885490 G A SNP ATXN1L ENST00000427980 human ensembl 70_37 +1 known missense c.1847 p.R616K 1.000 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 21 12 36.36 36 0 0.00 ATXN2 6311 genome.wustl.edu 37 12 111892862 111892862 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 111892862 111892862 G A SNP ATXN2 ENST00000542287 human ensembl 70_37 -1 putative missense c.3011 p.S1004L 0.008 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 20 15 41.67 15 0 0.00 ATXN2 6311 genome.wustl.edu 37 12 111893951 111893951 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 111893951 111893951 G C SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known missense c.3626 p.S1209C 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 111 61 35.47 151 0 0.00 ATXN2 6311 genome.wustl.edu 37 12 111908476 111908476 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 111908476 111908476 C T SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known silent c.3069 p.A1023 0.964 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 45 33 42.31 98 0 0.00 ATXN2 6311 genome.wustl.edu 37 12 111954009 111954009 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 111954009 111954009 G A SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known missense c.1804 p.H602Y 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 57 34 37.36 95 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28843580 28843580 + Nonsense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 28843580 28843580 C A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known nonsense c.1376 p.S459* 0.990 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 49 16 24.62 51 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28843711 28843711 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 28843711 28843711 C T SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1507 p.P503S 0.903 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 47 14 22.95 57 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28843855 28843855 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28843855 28843855 G C SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1555 p.E519Q 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 27 5 15.62 21 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28844464 28844464 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28844464 28844464 G C SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1744 p.E582Q 0.965 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 31 7 18.42 19 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28844674 28844674 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28844674 28844674 G A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1954 p.E652K 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 27 8 22.86 25 0 0.00 ATXN2L 11273 genome.wustl.edu 37 16 28847446 28847446 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28847446 28847446 G A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.3088 p.E1030K 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 47 27 36.49 94 0 0.00 ATXN3 4287 genome.wustl.edu 37 14 92555077 92555077 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 92555077 92555077 C T SNP ATXN3 ENST00000545170 human ensembl 70_37 -1 known missense c.472 p.E158K 1.000 pfam_Josephin,pfscan_Josephin,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 65 15 18.75 77 0 0.00 ATXN3L 92552 genome.wustl.edu 37 X 13337013 13337013 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 13337013 13337013 C A SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known missense c.1041 p.K347N 0.005 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 39 17 30.36 73 0 0.00 ATXN3L 92552 genome.wustl.edu 37 X 13337060 13337060 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 13337060 13337060 C G SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known missense c.994 p.G332R 0.010 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 86 24 21.82 77 0 0.00 ATXN3L 92552 genome.wustl.edu 37 X 13337277 13337277 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 13337277 13337277 G A SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known silent c.777 p.S259 0.010 smart_Ubiquitin-int_motif pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 21 20 48.78 57 0 0.00 ATXN3L 92552 genome.wustl.edu 37 X 13337277 13337277 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 13337277 13337277 G A SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known silent c.777 p.S259 0.010 smart_Ubiquitin-int_motif pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 42 18 30.00 45 0 0.00 ATXN3L 92552 genome.wustl.edu 37 X 13337387 13337387 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 13337387 13337387 C G SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known missense c.667 p.D223H 0.971 pfam_Ubiquitin-int_motif,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 33 5 13.16 23 0 0.00 ATXN7 6314 genome.wustl.edu 37 3 63976453 63976453 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 63976453 63976453 T G SNP ATXN7 ENST00000398590 human ensembl 70_37 +1 known missense c.1600 p.Y534D 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 38 21 35.59 112 0 0.00 ATXN7L1 222255 genome.wustl.edu 37 7 105254171 105254171 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 105254171 105254171 G A SNP ATXN7L1 ENST00000388807 human ensembl 70_37 -1 known silent c.1590 p.H530 0.005 NULL NULL - no_errors ATXN7L1 HGNC ENSG00000146776 51 24 32.00 52 0 0.00 ATXN7L1 222255 genome.wustl.edu 37 7 105254455 105254455 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 105254455 105254455 C T SNP ATXN7L1 ENST00000419735 human ensembl 70_37 -1 known missense c.2326 p.E776K 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 26 5 16.13 22 0 0.00 ATXN7L1 222255 genome.wustl.edu 37 7 105305653 105305653 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 105305653 105305653 C T SNP ATXN7L1 ENST00000419735 human ensembl 70_37 -1 known silent c.438 p.V146 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 116 22 15.94 98 0 0.00 ATXN7L2 127002 genome.wustl.edu 37 1 110031523 110031523 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 110031523 110031523 G A SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.838 p.V280M 0.997 pfam_SCA7_dom pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 31 17 34.69 20 0 0.00 ATXN7L2 127002 genome.wustl.edu 37 1 110031523 110031523 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 110031523 110031523 G A SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.838 p.V280M 0.997 pfam_SCA7_dom pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 41 27 39.71 45 0 0.00 ATXN7L2 127002 genome.wustl.edu 37 1 110032595 110032595 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 110032595 110032595 T C SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.1081 p.C361R 0.701 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 22 14 38.89 36 0 0.00 ATXN7L2 127002 genome.wustl.edu 37 1 110034536 110034536 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 110034536 110034536 C T SNP ATXN7L2 ENST00000497545 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 29 22 43.14 65 0 0.00 ATXN7L3 56970 genome.wustl.edu 37 17 42274681 42274681 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 42274681 42274681 G A SNP ATXN7L3 ENST00000454077 human ensembl 70_37 -1 known missense c.271 p.R91C 1.000 pfam_SAGA_su_Sgf11 pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 68 45 39.82 55 0 0.00 AUH 549 genome.wustl.edu 37 9 94123919 94123919 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 94123919 94123919 C T SNP AUH ENST00000375731 human ensembl 70_37 -1 known missense c.253 p.E85K 1.000 NULL pfam_Crotonase_core - no_errors AUH HGNC ENSG00000148090 28 12 30.00 45 0 0.00 AUNIP 79000 genome.wustl.edu 37 1 26161667 26161667 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 26161667 26161667 G A SNP AUNIP ENST00000538789 human ensembl 70_37 -1 known silent c.891 p.V297 1.000 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 10 2 16.67 28 0 0.00 AUNIP 79000 genome.wustl.edu 37 1 26161951 26161951 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 26161951 26161951 C T SNP AUNIP ENST00000538789 human ensembl 70_37 -1 known missense c.607 p.E203K 0.101 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 17 11 39.29 45 0 0.00 AUP1 550 genome.wustl.edu 37 2 74755126 74755126 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 74755126 74755126 G A SNP AUP1 ENST00000377526 human ensembl 70_37 -1 known missense c.679 p.R227C 0.764 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 24 6 20.00 38 0 0.00 AUP1 550 genome.wustl.edu 37 2 74756717 74756717 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 74756717 74756717 C G SNP AUP1 ENST00000377526 human ensembl 70_37 -1 known missense c.40 p.D14H 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 20 16 44.44 44 0 0.00 AURKA 6790 genome.wustl.edu 37 20 54945266 54945266 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 54945266 54945266 G A SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.1160 p.S387L 0.975 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKA HGNC ENSG00000087586 176 44 20.00 239 0 0.00 AURKA 6790 genome.wustl.edu 37 20 54945266 54945266 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 54945266 54945266 G A SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.1160 p.S387L 0.975 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKA HGNC ENSG00000087586 84 22 20.75 91 0 0.00 AURKA 6790 genome.wustl.edu 37 20 54963252 54963252 + Missense_Mutation SNP A A C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 54963252 54963252 A C SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.2 p.M1R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKA HGNC ENSG00000087586 16 9 36.00 24 0 0.00 AURKAIP1 54998 genome.wustl.edu 37 1 1309975 1309975 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 1309975 1309975 G A SNP AURKAIP1 ENST00000489799 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors AURKAIP1 HGNC ENSG00000175756 20 19 48.72 73 0 0.00 AURKAIP1 54998 genome.wustl.edu 37 1 1310002 1310002 + RNA SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 1310002 1310002 C T SNP AURKAIP1 ENST00000489799 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors AURKAIP1 HGNC ENSG00000175756 43 13 23.21 49 0 0.00 AURKAIP1 54998 genome.wustl.edu 37 1 1310233 1310233 + RNA SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 1310233 1310233 G A SNP AURKAIP1 ENST00000496905 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AURKAIP1 HGNC ENSG00000175756 29 17 36.96 32 0 0.00 AURKB 9212 genome.wustl.edu 37 17 8108585 8108585 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 8108585 8108585 G T SNP AURKB ENST00000585124 human ensembl 70_37 -1 known missense c.810 p.N270K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKB HGNC ENSG00000178999 29 4 12.12 30 0 0.00 AURKB 9212 genome.wustl.edu 37 17 8109913 8109913 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 8109913 8109913 C T SNP AURKB ENST00000580998 human ensembl 70_37 -1 known missense c.301 p.E101K 1.000 NULL NULL - no_errors AURKB HGNC ENSG00000178999 113 13 10.16 149 0 0.00 AURKB 9212 genome.wustl.edu 37 17 8109913 8109913 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 8109913 8109913 C T SNP AURKB ENST00000580998 human ensembl 70_37 -1 known missense c.301 p.E101K 1.000 NULL NULL - no_errors AURKB HGNC ENSG00000178999 31 5 13.89 35 0 0.00 AURKC 6795 genome.wustl.edu 37 19 57742677 57742677 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 57742677 57742677 G A SNP AURKC ENST00000601799 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL NULL - no_errors AURKC HGNC ENSG00000105146 82 50 37.88 85 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70163662 70163662 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 70163662 70163662 C G SNP AUTS2 ENST00000489774 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors AUTS2 HGNC ENSG00000158321 30 16 34.78 73 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70231180 70231180 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 70231180 70231180 C T SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known missense c.1549 p.P517S 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 52 9 14.75 71 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70252204 70252204 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 70252204 70252204 C G SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known nonsense c.2318 p.S773* 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 34 24 41.38 54 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70254876 70254876 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 70254876 70254876 G C SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known missense c.2674 p.E892Q 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 19 17 47.22 46 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70255358 70255358 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 70255358 70255358 C T SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known silent c.3156 p.I1052 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 14 2 12.50 11 0 0.00 AUTS2 26053 genome.wustl.edu 37 7 70255460 70255460 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 70255460 70255460 G A SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known silent c.3258 p.R1086 0.999 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 18 6 25.00 37 0 0.00 AVIL 10677 genome.wustl.edu 37 12 58201263 58201263 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 58201263 58201263 C T SNP AVIL ENST00000257861 human ensembl 70_37 -1 known missense c.1342 p.A448T 0.999 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors AVIL HGNC ENSG00000135407 64 16 20.00 102 0 0.00 AVIL 10677 genome.wustl.edu 37 12 58204681 58204681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 58204681 58204681 C G SNP AVIL ENST00000257861 human ensembl 70_37 -1 known missense c.476 p.R159P 0.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors AVIL HGNC ENSG00000135407 43 20 31.75 46 0 0.00 AVPR1A 552 genome.wustl.edu 37 12 63544014 63544014 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 63544014 63544014 G A SNP AVPR1A ENST00000299178 human ensembl 70_37 -1 known silent c.603 p.R201 0.885 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 74 23 23.71 141 0 0.00 AVPR1A 552 genome.wustl.edu 37 12 63544264 63544264 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 12 63544264 63544264 C T SNP AVPR1A ENST00000299178 human ensembl 70_37 -1 known missense c.353 p.R118H 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 24 9 27.27 21 0 0.00 AVPR1B 553 genome.wustl.edu 37 1 206225182 206225182 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 206225182 206225182 G A SNP AVPR1B ENST00000367126 human ensembl 70_37 +1 known missense c.742 p.D248N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 22 3 12.00 17 0 0.00 AVPR1B 553 genome.wustl.edu 37 1 206230995 206230995 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 206230995 206230995 C G SNP AVPR1B ENST00000367126 human ensembl 70_37 +1 known missense c.1128 p.H376Q 0.750 prints_Vprs_rcpt_V1B pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 13 6 31.58 33 0 0.00 AVPR2 554 genome.wustl.edu 37 X 153171491 153171491 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 153171491 153171491 C G SNP AVPR2 ENST00000337474 human ensembl 70_37 +1 known missense c.531 p.I177M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 110 18 14.06 79 0 0.00 AVPR2 554 genome.wustl.edu 37 X 153172076 153172076 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 153172076 153172076 G A SNP AVPR2 ENST00000337474 human ensembl 70_37 +1 known missense c.1010 p.R337Q 0.183 prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 70 10 12.50 80 0 0.00 AWAT1 158833 genome.wustl.edu 37 X 69455618 69455618 + Silent SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde X 69455618 69455618 G A SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known silent c.129 p.P43 0.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 40 33 45.21 90 0 0.00 AWAT1 158833 genome.wustl.edu 37 X 69456971 69456971 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 69456971 69456971 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known silent c.333 p.G111 0.298 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 46 8 14.81 74 0 0.00 AWAT1 158833 genome.wustl.edu 37 X 69457007 69457007 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 69457007 69457007 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known silent c.369 p.F123 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 39 35 47.30 85 0 0.00 AWAT1 158833 genome.wustl.edu 37 X 69458097 69458097 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 69458097 69458097 C G SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known missense c.496 p.L166V 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 32 10 23.81 24 0 0.00 AWAT1 158833 genome.wustl.edu 37 X 69460048 69460048 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 69460048 69460048 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known missense c.895 p.H299Y 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 22 3 10.71 72 0 0.00 AWAT2 158835 genome.wustl.edu 37 X 69264293 69264293 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 69264293 69264293 G A SNP AWAT2 ENST00000276101 human ensembl 70_37 -1 known silent c.105 p.V35 0.036 NULL pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 13 25 64.10 35 0 0.00 AWAT2 158835 genome.wustl.edu 37 X 69269699 69269699 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 69269699 69269699 G A SNP AWAT2 ENST00000276101 human ensembl 70_37 -1 known silent c.84 p.I28 0.012 NULL pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 73 9 10.98 72 0 0.00 AXDND1 126859 genome.wustl.edu 37 1 179363044 179363044 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 179363044 179363044 G C SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.870 p.R290S 0.996 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 193 64 24.90 192 0 0.00 AXDND1 126859 genome.wustl.edu 37 1 179363044 179363044 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 179363044 179363044 G C SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.870 p.R290S 0.996 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 58 20 25.64 44 0 0.00 AXDND1 126859 genome.wustl.edu 37 1 179503884 179503884 + Missense_Mutation SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 179503884 179503884 A G SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.2818 p.R940G 0.886 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 35 6 14.63 33 0 0.00 AXDND1 126859 genome.wustl.edu 37 1 179503992 179503992 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 179503992 179503992 G A SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.2926 p.E976K 0.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 13 12 48.00 18 0 0.00 AXIN1 8312 genome.wustl.edu 37 16 348162 348162 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 16 348162 348162 C T SNP AXIN1 ENST00000262320 human ensembl 70_37 -1 known silent c.1344 p.P448 0.018 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN1 HGNC ENSG00000103126 47 13 21.31 53 0 0.00 AXIN2 8313 genome.wustl.edu 37 17 63533495 63533495 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 63533495 63533495 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known silent c.1659 p.S553 0.001 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 68 21 23.60 111 0 0.00 AXIN2 8313 genome.wustl.edu 37 17 63534325 63534325 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 63534325 63534325 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.1196 p.R399Q 0.944 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 23 16 41.03 32 0 0.00 AXIN2 8313 genome.wustl.edu 37 17 63554353 63554353 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 63554353 63554353 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 139 80 36.53 236 1 0.42 AXIN2 8313 genome.wustl.edu 37 17 63554353 63554353 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 63554353 63554353 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 32 27 45.76 31 0 0.00 AXL 558 genome.wustl.edu 37 19 41745213 41745213 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 41745213 41745213 C T SNP AXL ENST00000301178 human ensembl 70_37 +1 known missense c.1279 p.R427C 0.936 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 23 17 42.50 49 0 0.00 AXL 558 genome.wustl.edu 37 19 41759596 41759596 + Silent SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 41759596 41759596 G C SNP AXL ENST00000301178 human ensembl 70_37 +1 known silent c.2019 p.L673 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 37 7 15.91 31 0 0.00 AXL 558 genome.wustl.edu 37 19 41765754 41765754 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 41765754 41765754 C A SNP AXL ENST00000301178 human ensembl 70_37 +1 known missense c.2630 p.A877D 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 13 6 31.58 27 0 0.00 AZGP1 563 genome.wustl.edu 37 7 99564616 99564616 + RNA SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 99564616 99564616 C A SNP AZGP1 ENST00000483612 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AZGP1 HGNC ENSG00000160862 143 18 11.18 163 0 0.00 AZI1 22994 genome.wustl.edu 37 17 79167808 79167808 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 79167808 79167808 G A SNP AZI1 ENST00000269392 human ensembl 70_37 -1 known missense c.2248 p.R750C 0.857 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 11 10 47.62 11 0 0.00 AZI2 64343 genome.wustl.edu 37 3 28364161 28364161 + RNA SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 28364161 28364161 T A SNP AZI2 ENST00000295748 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors AZI2 HGNC ENSG00000163512 5 39 88.64 31 0 0.00 AZI2 64343 genome.wustl.edu 37 3 28364321 28364321 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 28364321 28364321 G C SNP AZI2 ENST00000295748 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors AZI2 HGNC ENSG00000163512 12 5 29.41 10 0 0.00 AZI2 64343 genome.wustl.edu 37 3 28378263 28378263 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 28378263 28378263 C T SNP AZI2 ENST00000479665 human ensembl 70_37 -1 known missense c.553 p.D185N 0.001 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 30 18 37.50 70 0 0.00 AZI2 64343 genome.wustl.edu 37 3 28380088 28380088 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 28380088 28380088 C T SNP AZI2 ENST00000479665 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 34 24 41.38 80 0 0.00 AZIN1 51582 genome.wustl.edu 37 8 103845404 103845404 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 103845404 103845404 C T SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.784 p.E262K 0.999 pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 32 13 28.89 44 0 0.00 AZIN1 51582 genome.wustl.edu 37 8 103846971 103846971 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 103846971 103846971 G A SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.589 p.H197Y 1.000 pfam_De-COase2_N,prints_Orn/DAP/Arg_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 55 19 25.68 58 0 0.00 AZIN1 51582 genome.wustl.edu 37 8 103848607 103848607 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 103848607 103848607 T C SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.461 p.H154R 1.000 pfam_De-COase2_N,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 22 17 43.59 41 0 0.00 AZIN1 51582 genome.wustl.edu 37 8 103870315 103870315 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 103870315 103870315 G A SNP AZIN1 ENST00000517581 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AZIN1 HGNC ENSG00000155096 22 13 37.14 56 0 0.00 AZU1 566 genome.wustl.edu 37 19 829604 829604 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 829604 829604 G C SNP AZU1 ENST00000233997 human ensembl 70_37 +1 known silent c.258 p.L86 0.992 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 35 7 16.67 48 0 0.00 B2M 567 genome.wustl.edu 37 15 45007645 45007645 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 45007645 45007645 C G SNP B2M ENST00000544417 human ensembl 70_37 +1 known nonsense c.92 p.S31* 0.686 pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC ENSG00000166710 31 20 39.22 69 0 0.00 B2M 567 genome.wustl.edu 37 15 45007719 45007719 + Nonsense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 45007719 45007719 G T SNP B2M ENST00000544417 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.202 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC ENSG00000166710 65 34 34.34 201 0 0.00 B2M 567 genome.wustl.edu 37 15 45007833 45007833 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 45007833 45007833 G A SNP B2M ENST00000544417 human ensembl 70_37 +1 known missense c.280 p.E94K 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC ENSG00000166710 149 33 18.13 154 0 0.00 B3GALNT1 8706 genome.wustl.edu 37 3 160803991 160803991 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 160803991 160803991 G T SNP B3GALNT1 ENST00000320474 human ensembl 70_37 -1 known missense c.552 p.F184L 0.980 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 22 10 31.25 24 0 0.00 B3GALNT2 148789 genome.wustl.edu 37 1 235613545 235613545 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 235613545 235613545 A C SNP B3GALNT2 ENST00000366600 human ensembl 70_37 -1 known missense c.1479 p.D493E 0.953 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 48 13 21.31 94 0 0.00 B3GALNT2 148789 genome.wustl.edu 37 1 235658103 235658103 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235658103 235658103 G C SNP B3GALNT2 ENST00000366600 human ensembl 70_37 -1 known missense c.148 p.H50D 0.983 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 57 19 24.68 48 0 0.00 B3GALT1 8708 genome.wustl.edu 37 2 168725859 168725859 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 168725859 168725859 G A SNP B3GALT1 ENST00000305861 human ensembl 70_37 +1 known missense c.310 p.E104K 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 65 32 32.99 106 0 0.00 B3GALT1 8708 genome.wustl.edu 37 2 168725978 168725978 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 168725978 168725978 G T SNP B3GALT1 ENST00000305861 human ensembl 70_37 +1 known missense c.429 p.E143D 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 23 4 14.81 29 0 0.00 B3GALT4 8705 genome.wustl.edu 37 6 33245262 33245262 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 33245262 33245262 C T SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known silent c.66 p.L22 0.018 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 101 38 27.14 52 0 0.00 B3GALT4 8705 genome.wustl.edu 37 6 33245425 33245425 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 33245425 33245425 G A SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known missense c.229 p.V77M 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 21 11 34.38 52 0 0.00 B3GALT4 8705 genome.wustl.edu 37 6 33246092 33246092 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 33246092 33246092 G A SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known missense c.896 p.R299Q 0.184 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 77 10 11.36 101 0 0.00 B3GALT5 10317 genome.wustl.edu 37 21 41032526 41032526 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 21 41032526 41032526 C A SNP B3GALT5 ENST00000343118 human ensembl 70_37 +1 known missense c.40 p.L14M 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 25 4 13.79 27 0 0.00 B3GALT5 10317 genome.wustl.edu 37 21 41032838 41032838 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 41032838 41032838 G A SNP B3GALT5 ENST00000343118 human ensembl 70_37 +1 known missense c.352 p.D118N 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 10 5 33.33 15 0 0.00 B3GALTL 145173 genome.wustl.edu 37 13 31850910 31850910 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 31850910 31850910 T C SNP B3GALTL ENST00000343307 human ensembl 70_37 +1 known splice_site c.850+2 e10+2 1.000 - - - no_errors B3GALTL HGNC ENSG00000187676 6 2 25.00 18 0 0.00 B3GALTL 145173 genome.wustl.edu 37 13 31858829 31858829 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 31858829 31858829 G A SNP B3GALTL ENST00000343307 human ensembl 70_37 +1 known missense c.895 p.E299K 0.989 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 83 15 15.31 105 0 0.00 B3GAT1 27087 genome.wustl.edu 37 11 134252735 134252735 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 134252735 134252735 G A SNP B3GAT1 ENST00000537389 human ensembl 70_37 -1 known missense c.826 p.R276W 0.996 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 31 9 22.50 64 0 0.00 B3GAT1 27087 genome.wustl.edu 37 11 134253724 134253724 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 134253724 134253724 G A SNP B3GAT1 ENST00000537389 human ensembl 70_37 -1 known silent c.510 p.D170 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 10 3 23.08 13 0 0.00 B3GAT3 26229 genome.wustl.edu 37 11 62384213 62384213 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 62384213 62384213 C T SNP B3GAT3 ENST00000265471 human ensembl 70_37 -1 known missense c.674 p.R225Q 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 50 15 23.08 98 0 0.00 B3GNT3 10331 genome.wustl.edu 37 19 17919003 17919003 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17919003 17919003 G A SNP B3GNT3 ENST00000318683 human ensembl 70_37 +1 known silent c.387 p.T129 0.870 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 21 16 43.24 67 0 0.00 B3GNT3 10331 genome.wustl.edu 37 19 17919158 17919158 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 17919158 17919158 C G SNP B3GNT3 ENST00000318683 human ensembl 70_37 +1 known missense c.542 p.S181C 0.410 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 57 8 12.31 51 0 0.00 B3GNT4 79369 genome.wustl.edu 37 12 122692314 122692314 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 122692314 122692314 G A SNP B3GNT4 ENST00000545141 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors B3GNT4 HGNC ENSG00000176383 34 12 26.09 52 0 0.00 B3GNT5 84002 genome.wustl.edu 37 3 182987673 182987674 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 182987673 182987674 - T INS B3GNT5 ENST00000326505 human ensembl 70_37 +1 known frame_shift_ins c.87_88 p.W31fs 1.000:0.912 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 62 14 18.42 63 0 0.00 B3GNT5 84002 genome.wustl.edu 37 3 182987731 182987731 + Nonsense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 182987731 182987731 A T SNP B3GNT5 ENST00000326505 human ensembl 70_37 +1 known nonsense c.145 p.R49* 1.000 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 95 16 14.41 61 0 0.00 B3GNT5 84002 genome.wustl.edu 37 3 182988037 182988037 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 182988037 182988037 C G SNP B3GNT5 ENST00000326505 human ensembl 70_37 +1 known missense c.451 p.Q151E 0.001 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 32 19 37.25 43 0 0.00 B3GNT8 374907 genome.wustl.edu 37 19 41932015 41932015 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41932015 41932015 G C SNP B3GNT8 ENST00000321702 human ensembl 70_37 -1 known silent c.669 p.L223 0.996 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 103 15 12.61 112 0 0.00 B3GNT9 84752 genome.wustl.edu 37 16 67183392 67183392 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 67183392 67183392 G A SNP B3GNT9 ENST00000449549 human ensembl 70_37 -1 known missense c.997 p.H333Y 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 55 7 11.29 54 0 0.00 B3GNT9 84752 genome.wustl.edu 37 16 67183555 67183555 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 67183555 67183555 G A SNP B3GNT9 ENST00000449549 human ensembl 70_37 -1 known silent c.834 p.Y278 0.873 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 5 6 54.55 15 0 0.00 B3GNTL1 146712 genome.wustl.edu 37 17 80963069 80963069 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 80963069 80963069 C T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known silent c.426 p.V142 0.928 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 48 11 18.64 62 0 0.00 B3GNTL1 146712 genome.wustl.edu 37 17 80972328 80972328 + Splice_Site SNP A A T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 80972328 80972328 A T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known splice_site c.408+2 e5+2 0.093 - - - no_errors B3GNTL1 HGNC ENSG00000175711 50 18 26.47 75 0 0.00 B3GNTL1 146712 genome.wustl.edu 37 17 80972369 80972369 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 80972369 80972369 C T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known silent c.369 p.V123 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 39 12 23.08 91 0 0.00 B4GALNT1 2583 genome.wustl.edu 37 12 58020692 58020692 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 58020692 58020692 G A SNP B4GALNT1 ENST00000341156 human ensembl 70_37 -1 known silent c.1437 p.V479 0.025 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 42 25 37.31 58 0 0.00 B4GALNT2 124872 genome.wustl.edu 37 17 47218741 47218741 + Silent SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 47218741 47218741 G A SNP B4GALNT2 ENST00000300404 human ensembl 70_37 +1 known silent c.327 p.P109 0.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 24 23 48.94 47 0 0.00 B4GALNT2 124872 genome.wustl.edu 37 17 47236506 47236506 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 47236506 47236506 G C SNP B4GALNT2 ENST00000300404 human ensembl 70_37 +1 known silent c.786 p.R262 0.228 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 40 17 29.82 58 0 0.00 B4GALNT3 283358 genome.wustl.edu 37 12 662716 662716 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 662716 662716 C G SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known missense c.1627 p.Q543E 0.004 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 17 13 43.33 49 0 0.00 B4GALNT3 283358 genome.wustl.edu 37 12 663003 663003 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 663003 663003 C T SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known silent c.1914 p.F638 1.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 22 23 51.11 51 0 0.00 B4GALNT3 283358 genome.wustl.edu 37 12 667745 667745 + Silent SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 667745 667745 G C SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known silent c.2679 p.R893 1.000 pfam_Chond_GalNAc pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 32 20 38.46 51 0 0.00 B4GALNT4 338707 genome.wustl.edu 37 11 373229 373229 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 373229 373229 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.574 p.E192K 1.000 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 40 17 29.82 47 0 0.00 B4GALNT4 338707 genome.wustl.edu 37 11 373249 373249 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 373249 373249 C T SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known silent c.594 p.D198 0.410 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 41 7 14.58 87 0 0.00 B4GALNT4 338707 genome.wustl.edu 37 11 376300 376300 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 376300 376300 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.1246 p.D416N 0.989 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 32 8 20.00 57 0 0.00 B4GALNT4 338707 genome.wustl.edu 37 11 376309 376309 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 376309 376309 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.1255 p.D419N 0.427 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 36 10 21.74 58 0 0.00 B4GALT1 2683 genome.wustl.edu 37 9 33135202 33135202 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 33135202 33135202 G A SNP B4GALT1 ENST00000379731 human ensembl 70_37 -1 known silent c.633 p.I211 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT1 HGNC ENSG00000086062 71 13 15.48 62 0 0.00 B4GALT3 8703 genome.wustl.edu 37 1 161141164 161141164 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 161141164 161141164 G A SNP B4GALT3 ENST00000470882 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors B4GALT3 HGNC ENSG00000158850 21 9 30.00 31 0 0.00 B4GALT3 8703 genome.wustl.edu 37 1 161141583 161141583 + RNA SNP T T C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 161141583 161141583 T C SNP B4GALT3 ENST00000470882 human ensembl 70_37 -1 known rna NULL NULL 0.779 - - - no_errors B4GALT3 HGNC ENSG00000158850 18 39 68.42 48 0 0.00 B4GALT3 8703 genome.wustl.edu 37 1 161142095 161142095 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161142095 161142095 G A SNP B4GALT3 ENST00000319769 human ensembl 70_37 -1 known missense c.830 p.S277F 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT3 HGNC ENSG00000158850 188 36 16.07 161 0 0.00 B4GALT4 8702 genome.wustl.edu 37 3 118931488 118931488 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 3 118931488 118931488 C T SNP B4GALT4 ENST00000359213 human ensembl 70_37 -1 known missense c.943 p.D315N 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC ENSG00000121578 9 9 50.00 18 0 0.00 B4GALT4 8702 genome.wustl.edu 37 3 118945761 118945761 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 118945761 118945761 G A SNP B4GALT4 ENST00000359213 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC ENSG00000121578 52 9 14.75 62 0 0.00 B4GALT5 9334 genome.wustl.edu 37 20 48252850 48252850 + Nonstop_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 48252850 48252850 C G SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known nonstop c.1166 p.*389S 1.000 NULL pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC ENSG00000158470 107 33 23.40 137 0 0.00 B4GALT5 9334 genome.wustl.edu 37 20 48252850 48252850 + Nonstop_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 48252850 48252850 C G SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known nonstop c.1166 p.*389S 1.000 NULL pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC ENSG00000158470 37 9 19.57 34 0 0.00 B4GALT5 9334 genome.wustl.edu 37 20 48260132 48260132 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 48260132 48260132 G C SNP B4GALT5 ENST00000371711 human ensembl 70_37 -1 known silent c.420 p.L140 0.937 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC ENSG00000158470 19 19 50.00 44 0 0.00 B4GALT6 9331 genome.wustl.edu 37 18 29218714 29218714 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29218714 29218714 G T SNP B4GALT6 ENST00000306851 human ensembl 70_37 -1 known missense c.481 p.L161I 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT6 HGNC ENSG00000118276 7 12 63.16 43 0 0.00 B4GALT7 11285 genome.wustl.edu 37 5 177031510 177031510 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 177031510 177031510 C T SNP B4GALT7 ENST00000029410 human ensembl 70_37 +1 known silent c.381 p.H127 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT7 HGNC ENSG00000027847 24 5 17.24 11 0 0.00 B4GALT7 11285 genome.wustl.edu 37 5 177035597 177035597 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 177035597 177035597 C T SNP B4GALT7 ENST00000029410 human ensembl 70_37 +1 known missense c.697 p.R233W 1.000 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT7 HGNC ENSG00000027847 65 19 22.62 68 0 0.00 B9D1 27077 genome.wustl.edu 37 17 19246682 19246682 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19246682 19246682 C G SNP B9D1 ENST00000261499 human ensembl 70_37 -1 known missense c.565 p.D189H 0.303 NULL pfam_B9_dom - no_errors B9D1 HGNC ENSG00000108641 34 27 44.26 34 0 0.00 BAALC 79870 genome.wustl.edu 37 8 104195600 104195600 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 8 104195600 104195600 T C SNP BAALC ENST00000306391 human ensembl 70_37 +1 putative missense c.166 p.Y56H 0.240 NULL pfam_BAALC - no_errors BAALC HGNC ENSG00000164929 71 23 23.96 78 0 0.00 BAAT 570 genome.wustl.edu 37 9 104124827 104124827 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 104124827 104124827 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.1140 p.L380F 0.000 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 64 14 17.95 100 0 0.00 BAAT 570 genome.wustl.edu 37 9 104130403 104130404 + Frame_Shift_Del DEL TT TT - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 104130403 104130404 TT - DEL BAAT ENST00000259407 human ensembl 70_37 -1 known frame_shift_del c.668_667 p.K223fs 1.000:0.930 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 10 2 16.67 69 0 0.00 BAAT 570 genome.wustl.edu 37 9 104133518 104133518 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 104133518 104133518 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.169 p.E57Q 0.275 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 45 15 25.00 52 0 0.00 BAAT 570 genome.wustl.edu 37 9 104133675 104133675 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 104133675 104133675 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.12 p.L4F 0.560 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 48 30 38.46 70 0 0.00 BACE1 23621 genome.wustl.edu 37 11 117163829 117163829 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 117163829 117163829 C T SNP BACE1 ENST00000313005 human ensembl 70_37 -1 known missense c.781 p.E261K 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1 - no_errors BACE1 HGNC ENSG00000186318 316 41 11.45 409 0 0.00 BACE2 25825 genome.wustl.edu 37 21 42598208 42598208 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 42598208 42598208 G T SNP BACE2 ENST00000330333 human ensembl 70_37 +1 known missense c.328 p.D110Y 0.986 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 30 4 11.76 25 0 0.00 BACE2 25825 genome.wustl.edu 37 21 42609509 42609509 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 42609509 42609509 C T SNP BACE2 ENST00000330333 human ensembl 70_37 +1 known silent c.471 p.F157 0.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 46 8 14.81 25 0 0.00 BACE2 25825 genome.wustl.edu 37 21 42647759 42647760 + RNA INS - - A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 21 42647759 42647760 - A INS BACE2 ENST00000466122 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BACE2 HGNC ENSG00000182240 23 4 14.81 22 0 0.00 BACH1 571 genome.wustl.edu 37 21 30698588 30698588 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 21 30698588 30698588 C T SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.443 p.S148L 0.042 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 37 14 27.45 62 0 0.00 BACH1 571 genome.wustl.edu 37 21 30699110 30699110 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 21 30699110 30699110 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.965 p.S322C 0.024 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 22 10 31.25 32 0 0.00 BACH1 571 genome.wustl.edu 37 21 30699443 30699443 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 30699443 30699443 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1298 p.S433C 0.810 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 31 13 29.55 36 0 0.00 BACH1 571 genome.wustl.edu 37 21 30701994 30701994 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 30701994 30701994 G A SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 30 14 31.82 38 0 0.00 BACH1 571 genome.wustl.edu 37 21 30714831 30714831 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 30714831 30714831 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1888 p.L630V 0.988 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 11 4 26.67 30 0 0.00 BACH1 571 genome.wustl.edu 37 21 30714889 30714889 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 21 30714889 30714889 C T SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1946 p.S649L 0.873 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 19 3 13.64 20 0 0.00 BACH2 60468 genome.wustl.edu 37 6 90647929 90647929 + Silent SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 6 90647929 90647929 C T SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known silent c.1977 p.A659 0.024 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 40 10 20.00 45 0 0.00 BACH2 60468 genome.wustl.edu 37 6 90718406 90718406 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 90718406 90718406 G A SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known missense c.158 p.A53V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 37 6 13.95 27 0 0.00 BACH2 60468 genome.wustl.edu 37 6 90718534 90718534 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 6 90718534 90718534 G T SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known silent c.30 p.P10 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 33 4 10.81 42 0 0.00 BACH2 60468 genome.wustl.edu 37 6 90718551 90718551 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90718551 90718551 C T SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known missense c.13 p.E5K 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 18 15 45.45 31 0 0.00 BAD 572 genome.wustl.edu 37 11 64039170 64039170 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 64039170 64039170 C T SNP BAD ENST00000309032 human ensembl 70_37 -1 known missense c.293 p.R98H 0.991 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 3 4 57.14 15 0 0.00 BAD 572 genome.wustl.edu 37 11 64051746 64051746 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 64051746 64051746 G C SNP BAD ENST00000309032 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.007 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 27 12 30.00 61 0 0.00 BAG1 573 genome.wustl.edu 37 9 33262125 33262125 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 33262125 33262125 G C SNP BAG1 ENST00000379707 human ensembl 70_37 -1 known missense c.355 p.H119D 0.000 NULL NULL - no_errors BAG1 HGNC ENSG00000107262 37 18 32.73 36 0 0.00 BAG2 9532 genome.wustl.edu 37 6 57048707 57048707 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 57048707 57048707 G C SNP BAG2 ENST00000370693 human ensembl 70_37 +1 known missense c.355 p.E119Q 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG2 HGNC ENSG00000112208 2 30 93.75 39 0 0.00 BAG3 9531 genome.wustl.edu 37 10 121429618 121429618 + Nonsense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 121429618 121429618 C T SNP BAG3 ENST00000369085 human ensembl 70_37 +1 known nonsense c.436 p.Q146* 1.000 NULL pfam_BAG_domain,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_Rsp5_WWP - no_errors BAG3 HGNC ENSG00000151929 59 7 10.61 77 0 0.00 BAG4 9530 genome.wustl.edu 37 8 38065202 38065202 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 38065202 38065202 C T SNP BAG4 ENST00000287322 human ensembl 70_37 +1 known missense c.551 p.S184F 0.634 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 37 40 51.95 70 0 0.00 BAG5 9529 genome.wustl.edu 37 14 104026644 104026644 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 104026644 104026644 C G SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 32 12 26.67 39 0 0.00 BAG5 9529 genome.wustl.edu 37 14 104026644 104026644 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 104026644 104026644 C T SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 25 18 41.86 37 0 0.00 BAG5 9529 genome.wustl.edu 37 14 104027364 104027365 + Frame_Shift_Ins INS - - AG TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 104027364 104027365 - AG INS BAG5 ENST00000337322 human ensembl 70_37 -1 known frame_shift_ins c.261_260 p.T88fs 0.036:0.417 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 57 12 17.39 59 0 0.00 BAG5 9529 genome.wustl.edu 37 14 104028264 104028264 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 104028264 104028264 C G SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.81 p.W27C 0.000 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 45 14 23.73 59 0 0.00 BAG6 7917 genome.wustl.edu 37 6 31607000 31607000 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 31607000 31607000 G A SNP BAG6 ENST00000404765 human ensembl 70_37 -1 known missense c.3397 p.R1133W 1.000 NULL pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 15 6 28.57 20 0 0.00 BAG6 7917 genome.wustl.edu 37 6 31607482 31607482 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 31607482 31607482 C G SNP BAG6 ENST00000464869 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors BAG6 HGNC ENSG00000204463 27 4 12.90 28 0 0.00 BAG6 7917 genome.wustl.edu 37 6 31610002 31610002 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31610002 31610002 G A SNP BAG6 ENST00000404765 human ensembl 70_37 -1 known missense c.2222 p.S741F 1.000 NULL pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 25 9 26.47 25 0 0.00 BAGE2 85319 genome.wustl.edu 37 21 11038739 11038739 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 11038739 11038739 G C SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors BAGE2 HGNC ENSG00000187172 84 10 10.64 92 0 0.00 BAGE2 85319 genome.wustl.edu 37 21 11038789 11038789 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 11038789 11038789 C T SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 431 53 10.91 431 0 0.00 BAGE2 85319 genome.wustl.edu 37 21 11058273 11058273 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 11058273 11058273 C G SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 96 11 10.28 135 0 0.00 BAGE2 85319 genome.wustl.edu 37 21 11060117 11060117 + RNA SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 11060117 11060117 A T SNP BAGE2 ENST00000474011 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors BAGE2 HGNC ENSG00000187172 5 4 44.44 12 0 0.00 BAGE2 85319 genome.wustl.edu 37 21 11060168 11060168 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 21 11060168 11060168 G A SNP BAGE2 ENST00000474011 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BAGE2 HGNC ENSG00000187172 12 4 25.00 17 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79409042 79409042 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79409042 79409042 G C SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.667 p.E223Q 0.720 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 11 26 70.27 49 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79409609 79409609 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 79409609 79409609 G A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.1234 p.E412K 0.962 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 18 12 40.00 25 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79410443 79410443 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 79410443 79410443 G A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2068 p.D690N 0.378 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 10 23 69.70 36 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79411745 79411745 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 79411745 79411745 C A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2564 p.S855Y 0.981 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 18 16 47.06 18 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79411745 79411745 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 79411745 79411745 C A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2564 p.S855Y 0.981 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 31 34 52.31 53 0 0.00 BAHCC1 57597 genome.wustl.edu 37 17 79423343 79423343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79423343 79423343 G C SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.4590 p.K1530N 0.959 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 7 20 74.07 30 0 0.00 BAHD1 22893 genome.wustl.edu 37 15 40750915 40750915 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 40750915 40750915 G A SNP BAHD1 ENST00000416165 human ensembl 70_37 +1 known silent c.252 p.R84 0.699 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 38 18 32.14 49 0 0.00 BAHD1 22893 genome.wustl.edu 37 15 40751231 40751231 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 40751231 40751231 G A SNP BAHD1 ENST00000416165 human ensembl 70_37 +1 known missense c.568 p.D190N 0.982 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 9 3 25.00 13 0 0.00 BAI1 575 genome.wustl.edu 37 8 143545680 143545680 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 143545680 143545680 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.121 p.E41K 0.879 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 23 23 48.94 21 0 0.00 BAI1 575 genome.wustl.edu 37 8 143558803 143558803 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 143558803 143558803 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.1280 p.R427H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 26 17 38.64 43 0 0.00 BAI1 575 genome.wustl.edu 37 8 143559620 143559620 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 143559620 143559620 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.1460 p.R487Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 33 39 54.17 79 0 0.00 BAI1 575 genome.wustl.edu 37 8 143614744 143614744 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 8 143614744 143614744 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.3487 p.A1163T 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 16 7 30.43 16 0 0.00 BAI1 575 genome.wustl.edu 37 8 143614774 143614774 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 143614774 143614774 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.3517 p.D1173N 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 10 14 58.33 26 0 0.00 BAI1 575 genome.wustl.edu 37 8 143614774 143614774 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 143614774 143614774 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.3517 p.D1173N 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 52 40 43.48 22 0 0.00 BAI1 575 genome.wustl.edu 37 8 143623644 143623644 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 143623644 143623644 C T SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.4049 p.T1350M 0.502 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 41 5 10.87 47 0 0.00 BAI2 576 genome.wustl.edu 37 1 32196648 32196648 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 32196648 32196648 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.4133 p.P1378L 0.988 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 73 18 19.78 27 0 0.00 BAI2 576 genome.wustl.edu 37 1 32196711 32196711 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 32196711 32196711 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.4070 p.R1357Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 29 5 14.71 38 0 0.00 BAI2 576 genome.wustl.edu 37 1 32198739 32198739 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 32198739 32198739 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.3458 p.S1153L 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 50 25 33.33 39 0 0.00 BAI2 576 genome.wustl.edu 37 1 32201189 32201189 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32201189 32201189 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known silent c.3345 p.Q1115 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 33 18 35.29 54 0 0.00 BAI2 576 genome.wustl.edu 37 1 32202035 32202035 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 32202035 32202035 A G SNP BAI2 ENST00000465256 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BAI2 HGNC ENSG00000121753 7 19 73.08 37 0 0.00 BAI2 576 genome.wustl.edu 37 1 32203034 32203034 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 32203034 32203034 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.2975 p.S992N 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 30 18 37.50 45 0 0.00 BAI2 576 genome.wustl.edu 37 1 32203073 32203073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32203073 32203073 G C SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.2936 p.S979C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 38 28 42.42 49 0 0.00 BAI2 576 genome.wustl.edu 37 1 32207497 32207497 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32207497 32207497 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.1489 p.R497C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 13 13 50.00 30 0 0.00 BAI2 576 genome.wustl.edu 37 1 32210276 32210276 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 32210276 32210276 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.895 p.E299K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 36 6 14.29 53 0 0.00 BAI2 576 genome.wustl.edu 37 1 32221619 32221619 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 32221619 32221619 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known silent c.819 p.F273 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 28 11 28.21 56 0 0.00 BAI3 577 genome.wustl.edu 37 6 69348868 69348868 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 69348868 69348868 C A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.301 p.L101I 1.000 pfscan_CUB pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 18 9 33.33 26 0 0.00 BAI3 577 genome.wustl.edu 37 6 69349167 69349167 + Missense_Mutation SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 69349167 69349167 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.600 p.Q200H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 22 4 15.38 30 0 0.00 BAI3 577 genome.wustl.edu 37 6 69653776 69653776 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 69653776 69653776 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.1085 p.G362V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 65 47 41.96 160 0 0.00 BAI3 577 genome.wustl.edu 37 6 69666033 69666033 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 69666033 69666033 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.1313 p.R438K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 22 4 15.38 39 0 0.00 BAI3 577 genome.wustl.edu 37 6 69703686 69703686 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 69703686 69703686 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known silent c.1761 p.Q587 0.989 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 28 23 45.10 47 0 0.00 BAI3 577 genome.wustl.edu 37 6 69728301 69728301 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 69728301 69728301 G C SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.2017 p.E673Q 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 35 26 42.62 78 0 0.00 BAI3 577 genome.wustl.edu 37 6 69728348 69728348 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 69728348 69728348 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known silent c.2064 p.G688 0.985 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 30 9 23.08 83 0 0.00 BAI3 577 genome.wustl.edu 37 6 69758162 69758162 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 69758162 69758162 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known nonsense c.2193 p.W731* 1.000 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 82 10 10.87 70 0 0.00 BAI3 577 genome.wustl.edu 37 6 70034857 70034857 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 70034857 70034857 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.2908 p.V970I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 38 19 32.76 49 0 0.00 BAI3 577 genome.wustl.edu 37 6 70037774 70037774 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 70037774 70037774 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3028 p.D1010N 0.988 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 59 8 11.76 97 0 0.00 BAI3 577 genome.wustl.edu 37 6 70040418 70040418 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 70040418 70040418 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3056 p.G1019E 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 47 40 45.98 81 0 0.00 BAI3 577 genome.wustl.edu 37 6 70048837 70048837 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 70048837 70048837 C T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3218 p.T1073M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 58 21 26.58 50 0 0.00 BAI3 577 genome.wustl.edu 37 6 70070851 70070851 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 6 70070851 70070851 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3686 p.G1229V 0.306 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 34 4 10.53 23 0 0.00 BAI3 577 genome.wustl.edu 37 6 70070940 70070940 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 70070940 70070940 C A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3775 p.P1259T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 16 11 40.74 31 0 0.00 BAIAP2 10458 genome.wustl.edu 37 17 79073865 79073865 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 79073865 79073865 G A SNP BAIAP2 ENST00000321300 human ensembl 70_37 +1 known silent c.627 p.A209 0.700 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 34 7 17.07 49 0 0.00 BAIAP2-AS1 440465 genome.wustl.edu 37 17 79004699 79004699 + RNA SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79004699 79004699 G T SNP BAIAP2-AS1 ENST00000542745 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 31 30 48.39 63 0 0.00 BAIAP2-AS1 440465 genome.wustl.edu 37 17 79005113 79005113 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79005113 79005113 C G SNP BAIAP2-AS1 ENST00000542745 human ensembl 70_37 -1 known rna NULL NULL 0.887 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 22 13 37.14 66 0 0.00 BAIAP2L1 55971 genome.wustl.edu 37 7 97937178 97937178 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 97937178 97937178 G A SNP BAIAP2L1 ENST00000005260 human ensembl 70_37 -1 known missense c.986 p.S329L 0.999 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 44 14 24.14 38 0 0.00 BAIAP2L1 55971 genome.wustl.edu 37 7 97939870 97939870 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 97939870 97939870 G A SNP BAIAP2L1 ENST00000005260 human ensembl 70_37 -1 known missense c.842 p.S281L 0.973 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 60 20 25.00 98 0 0.00 BAIAP2L2 80115 genome.wustl.edu 37 22 38504320 38504320 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 38504320 38504320 G A SNP BAIAP2L2 ENST00000381669 human ensembl 70_37 -1 known silent c.156 p.F52 0.994 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 82 32 28.07 99 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1384720 1384720 + Missense_Mutation SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1384720 1384720 A G SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.58 p.T20A 0.000 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 16 12 42.86 19 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1388903 1388903 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1388903 1388903 G C SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.237 p.W79C 0.996 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 19 15 44.12 32 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1389502 1389502 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1389502 1389502 G C SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.411 p.E137D 0.898 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 42 32 43.24 73 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392015 1392015 + Nonsense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 1392015 1392015 G T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known nonsense c.910 p.E304* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 24 10 29.41 77 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392188 1392188 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 1392188 1392188 C G SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.966 p.F322L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 33 8 19.51 36 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392548 1392548 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1392548 1392548 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known silent c.1083 p.V361 0.002 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 99 39 28.26 81 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392586 1392586 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1392586 1392586 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1121 p.S374L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 64 26 28.89 67 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392626 1392626 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1392626 1392626 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known silent c.1161 p.I387 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 73 24 24.74 69 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392980 1392980 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 1392980 1392980 G A SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1333 p.A445T 0.758 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 1 7 87.50 12 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1392980 1392980 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 1392980 1392980 G A SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1333 p.A445T 0.758 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 43 20 31.75 63 0 0.00 BAIAP3 8938 genome.wustl.edu 37 16 1397928 1397928 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 1397928 1397928 G A SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.3164 p.G1055D 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 74 50 40.32 79 0 0.00 BAK1 578 genome.wustl.edu 37 6 33543651 33543651 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 33543651 33543651 C T SNP BAK1 ENST00000360661 human ensembl 70_37 -1 known missense c.125 p.R42H 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 39 20 33.90 36 0 0.00 BANF1 8815 genome.wustl.edu 37 11 65771228 65771228 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 65771228 65771228 C T SNP BANF1 ENST00000312175 human ensembl 70_37 +1 known silent c.255 p.C85 0.156 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF1 HGNC ENSG00000175334 34 12 26.09 49 0 0.00 BANK1 55024 genome.wustl.edu 37 4 102751337 102751337 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 102751337 102751337 C T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.443 p.S148F 0.998 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 6 6 50.00 11 0 0.00 BANK1 55024 genome.wustl.edu 37 4 102839164 102839164 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 102839164 102839164 G T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known nonsense c.1024 p.E342* 0.964 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 25 13 34.21 42 0 0.00 BANK1 55024 genome.wustl.edu 37 4 102946642 102946642 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 102946642 102946642 G A SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.1570 p.E524K 0.300 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 39 13 25.00 86 0 0.00 BANK1 55024 genome.wustl.edu 37 4 102994888 102994888 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 102994888 102994888 G T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.2346 p.K782N 0.832 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 14 10 41.67 29 0 0.00 BANP 54971 genome.wustl.edu 37 16 88037938 88037938 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 88037938 88037938 C T SNP BANP ENST00000286122 human ensembl 70_37 +1 known missense c.376 p.R126W 0.999 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 48 28 36.84 53 0 0.00 BANP 54971 genome.wustl.edu 37 16 88104768 88104768 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88104768 88104768 G A SNP BANP ENST00000481948 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors BANP HGNC ENSG00000172530 5 5 50.00 8 0 0.00 BANP 54971 genome.wustl.edu 37 16 88110231 88110231 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 88110231 88110231 G A SNP BANP ENST00000286122 human ensembl 70_37 +1 known silent c.1524 p.E508 0.858 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 23 15 39.47 58 0 0.00 BANP 54971 genome.wustl.edu 37 16 88110455 88110455 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88110455 88110455 G A SNP BANP ENST00000481948 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BANP HGNC ENSG00000172530 16 7 30.43 22 0 0.00 BAP1 8314 genome.wustl.edu 37 3 52437782 52437782 + Nonsense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 52437782 52437782 G C SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.1379 p.S460* 0.982 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 38 22 36.07 99 0 0.00 BAP1 8314 genome.wustl.edu 37 3 52437848 52437848 + Nonsense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 52437848 52437848 G C SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.1313 p.S438* 0.957 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 28 6 17.65 38 0 0.00 BAP1 8314 genome.wustl.edu 37 3 52439883 52439883 + Nonsense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 3 52439883 52439883 G A SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.829 p.Q277* 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 10 14 58.33 46 0 0.00 BAP1 8314 genome.wustl.edu 37 3 52439883 52439883 + Nonsense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 52439883 52439883 G A SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.829 p.Q277* 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 7 11 61.11 53 0 0.00 BARD1 580 genome.wustl.edu 37 2 215645790 215645790 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215645790 215645790 C T SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.808 p.E270K 0.002 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 42 8 16.00 47 0 0.00 BARD1 580 genome.wustl.edu 37 2 215645796 215645796 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215645796 215645796 C T SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.802 p.E268K 0.408 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 40 8 16.67 48 0 0.00 BARD1 580 genome.wustl.edu 37 2 215645934 215645934 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 215645934 215645934 C A SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.664 p.A222S 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 72 19 20.88 53 0 0.00 BARD1 580 genome.wustl.edu 37 2 215645967 215645968 + Frame_Shift_Ins INS - - C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 215645967 215645968 - C INS BARD1 ENST00000260947 human ensembl 70_37 -1 known frame_shift_ins c.631_630 p.L210fs 0.942:0.919 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 8 3 27.27 41 0 0.00 BARD1 580 genome.wustl.edu 37 2 215646072 215646072 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 215646072 215646072 G A SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known nonsense c.526 p.Q176* 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 49 31 38.75 45 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182143 91182143 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 91182143 91182143 C T SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.610 p.D204N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 69 18 20.69 119 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182267 91182267 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 91182267 91182267 G A SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known silent c.486 p.T162 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 8 7 46.67 19 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182268 91182268 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 91182268 91182268 G A SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.485 p.T162I 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 8 6 42.86 18 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182448 91182448 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 91182448 91182448 G A SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.305 p.T102M 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 15 5 25.00 8 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182608 91182608 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 91182608 91182608 G C SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.145 p.P49A 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 53 27 33.75 127 0 0.00 BARHL2 343472 genome.wustl.edu 37 1 91182630 91182630 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 91182630 91182630 C T SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known silent c.123 p.A41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 58 9 13.43 49 0 0.00 BARX1 56033 genome.wustl.edu 37 9 96715209 96715209 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 96715209 96715209 C T SNP BARX1 ENST00000253968 human ensembl 70_37 -1 known missense c.484 p.E162K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 15 15 50.00 27 0 0.00 BARX2 8538 genome.wustl.edu 37 11 129306798 129306798 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 129306798 129306798 G A SNP BARX2 ENST00000281437 human ensembl 70_37 +1 known missense c.340 p.E114K 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 27 22 44.90 63 0 0.00 BARX2 8538 genome.wustl.edu 37 11 129312620 129312620 + Nonsense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 129312620 129312620 C T SNP BARX2 ENST00000531946 human ensembl 70_37 +1 putative nonsense c.13 p.R5* 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors BARX2 HGNC ENSG00000043039 26 21 44.68 51 0 0.00 BATF 10538 genome.wustl.edu 37 14 76012949 76012949 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 76012949 76012949 G A SNP BATF ENST00000286639 human ensembl 70_37 +1 known missense c.313 p.E105K 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 26 17 39.53 62 0 0.00 BATF2 116071 genome.wustl.edu 37 11 64756991 64756991 + Silent SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 64756991 64756991 A T SNP BATF2 ENST00000301887 human ensembl 70_37 -1 known silent c.435 p.S145 0.002 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 38 24 38.71 41 0 0.00 BATF2 116071 genome.wustl.edu 37 11 64764365 64764365 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 64764365 64764365 C T SNP BATF2 ENST00000301887 human ensembl 70_37 -1 known missense c.22 p.G8R 0.005 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 24 17 41.46 21 0 0.00 BATF3 55509 genome.wustl.edu 37 1 212860190 212860190 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 212860190 212860190 C G SNP BATF3 ENST00000243440 human ensembl 70_37 -1 known missense c.327 p.M109I 0.997 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF3 HGNC ENSG00000123685 10 8 44.44 13 0 0.00 BATF3 55509 genome.wustl.edu 37 1 212870663 212870663 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 212870663 212870663 C G SNP BATF3 ENST00000478275 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors BATF3 HGNC ENSG00000123685 45 23 33.82 34 0 0.00 BAZ1A 11177 genome.wustl.edu 37 14 35243591 35243591 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 35243591 35243591 C G SNP BAZ1A ENST00000360310 human ensembl 70_37 -1 known missense c.2939 p.R980T 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 100 43 30.07 138 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72856672 72856672 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 72856672 72856672 G C SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.4306 p.L1436V 0.995 superfamily_Bromodomain,smart_Bromodomain pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 20 43 68.25 20 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72861622 72861623 + In_Frame_Ins INS - - TCC TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 72861622 72861623 - TCC INS BAZ1B ENST00000339594 human ensembl 70_37 -1 known in_frame_ins c.3816_3815 p.1274in_frame_insE 0.614:0.989 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 54 9 14.29 58 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72884732 72884732 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 72884732 72884732 G A SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.2675 p.A892V 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 50 26 33.77 64 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72891336 72891336 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72891336 72891336 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.2455 p.D819H 0.075 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 57 10 14.93 63 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72892242 72892242 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 72892242 72892242 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.1549 p.E517Q 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 155 43 21.72 190 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72892765 72892765 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72892765 72892765 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.1026 p.L342F 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 50 16 24.24 49 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72907165 72907165 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 72907165 72907165 G C SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.658 p.H220D 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 106 42 28.38 27 0 0.00 BAZ1B 9031 genome.wustl.edu 37 7 72922761 72922761 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 72922761 72922761 G A SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known silent c.265 p.L89 0.996 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 19 11 36.67 37 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 56994157 56994157 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56994157 56994157 G A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known nonsense c.4726 p.Q1576* 0.997 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 76 23 23.23 115 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 56995142 56995142 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56995142 56995142 G C SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.4122 p.F1374L 0.979 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 31 14 31.11 68 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 56995491 56995491 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56995491 56995491 C A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known nonsense c.3916 p.E1306* 0.998 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 279 63 18.42 431 1 0.23 BAZ2A 11176 genome.wustl.edu 37 12 56996536 56996537 + Frame_Shift_Ins INS - - AT TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 56996536 56996537 - AT INS BAZ2A ENST00000551812 human ensembl 70_37 -1 known frame_shift_ins c.3391_3390 p.L1130fs 1.000:0.999 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 46 13 22.03 93 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 57000122 57000122 + RNA SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 57000122 57000122 C A SNP BAZ2A ENST00000549763 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2A HGNC ENSG00000076108 36 5 12.20 49 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 57005692 57005692 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57005692 57005692 T C SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.1480 p.K494E 0.022 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 33 14 29.17 58 0 0.00 BAZ2A 11176 genome.wustl.edu 37 12 57009107 57009107 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 57009107 57009107 G A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.427 p.R143W 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 32 13 28.89 26 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160181437 160181437 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 160181437 160181437 C A SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known nonsense c.6238 p.E2080* 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 24 12 33.33 34 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160193581 160193581 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160193581 160193581 C G SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.5668 p.E1890Q 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 115 34 22.82 192 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160206467 160206467 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160206467 160206467 A C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.4615 p.F1539V 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 7 7 50.00 16 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160287376 160287376 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 160287376 160287376 G C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.2192 p.S731C 1.000 superfamily_DNA-bd_integrase-typ pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 29 17 36.96 39 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160287406 160287406 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160287406 160287406 G C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.2162 p.S721C 1.000 superfamily_DNA-bd_integrase-typ pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 46 26 36.11 44 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160310196 160310196 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 160310196 160310196 C T SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.262 p.E88K 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 36 10 21.74 66 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160318094 160318094 + RNA SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 160318094 160318094 G T SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 0.964 - - - no_errors BAZ2B HGNC ENSG00000123636 17 14 45.16 19 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160318947 160318947 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 160318947 160318947 C G SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2B HGNC ENSG00000123636 10 4 28.57 10 0 0.00 BAZ2B 29994 genome.wustl.edu 37 2 160318979 160318979 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 160318979 160318979 G C SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2B HGNC ENSG00000123636 19 8 28.57 19 0 0.00 BBC3 27113 genome.wustl.edu 37 19 47725144 47725144 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47725144 47725144 G A SNP BBC3 ENST00000439096 human ensembl 70_37 -1 known missense c.497 p.S166L 0.916 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 55 23 29.49 93 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27136998 27136998 + Splice_Site SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27136998 27136998 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known splice_site c.534-1 e4-1 1.000 - - - no_errors BBOX1 HGNC ENSG00000129151 3 27 90.00 67 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27136998 27136998 + Splice_Site SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27136998 27136998 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known splice_site c.534-1 e4-1 1.000 - - - no_errors BBOX1 HGNC ENSG00000129151 6 32 84.21 27 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27137027 27137027 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137027 27137027 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.562 p.D188H 0.920 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 5 29 85.29 37 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27137027 27137027 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137027 27137027 G C SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.562 p.D188H 0.920 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 8 27 77.14 66 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27137075 27137075 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137075 27137075 G A SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.610 p.D204N 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 6 32 84.21 40 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27137075 27137075 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27137075 27137075 G A SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.610 p.D204N 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 9 29 76.32 79 0 0.00 BBOX1 8424 genome.wustl.edu 37 11 27147341 27147341 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 27147341 27147341 C G SNP BBOX1 ENST00000263182 human ensembl 70_37 +1 known missense c.977 p.S326C 0.575 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 2 16 84.21 40 0 0.00 BBS10 79738 genome.wustl.edu 37 12 76740006 76740006 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 76740006 76740006 G T SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.1759 p.Q587K 0.004 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 28 4 12.50 25 0 0.00 BBS10 79738 genome.wustl.edu 37 12 76740306 76740306 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 76740306 76740306 A C SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.1459 p.L487V 0.044 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 25 10 27.78 43 0 0.00 BBS10 79738 genome.wustl.edu 37 12 76740961 76740961 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 76740961 76740961 A C SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.804 p.F268L 0.165 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 16 10 38.46 24 0 0.00 BBS12 166379 genome.wustl.edu 37 4 123663127 123663127 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 123663127 123663127 G C SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.80 p.R27T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 57 32 35.96 123 0 0.00 BBS12 166379 genome.wustl.edu 37 4 123664237 123664237 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 123664237 123664237 C T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.1190 p.A397V 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 30 4 11.76 44 0 0.00 BBS12 166379 genome.wustl.edu 37 4 123664704 123664704 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123664704 123664704 C A SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.1657 p.L553I 0.041 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 10 8 44.44 26 0 0.00 BBS12 166379 genome.wustl.edu 37 4 123665067 123665067 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 123665067 123665067 C T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.2020 p.R674C 1.000 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 71 46 39.32 84 0 0.00 BBS12 166379 genome.wustl.edu 37 4 123665085 123665085 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 123665085 123665085 G T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.2038 p.V680L 0.999 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 11 5 31.25 38 0 0.00 BBS2 583 genome.wustl.edu 37 16 56531748 56531748 + Silent SNP G G T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 56531748 56531748 G T SNP BBS2 ENST00000245157 human ensembl 70_37 -1 known silent c.1704 p.I568 1.000 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 93 54 36.73 113 0 0.00 BBS2 583 genome.wustl.edu 37 16 56536701 56536701 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 16 56536701 56536701 C T SNP BBS2 ENST00000245157 human ensembl 70_37 -1 known missense c.824 p.R275Q 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 8 10 55.56 14 0 0.00 BBS5 129880 genome.wustl.edu 37 2 170349383 170349383 + Splice_Site SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 170349383 170349383 G A SNP BBS5 ENST00000554017 human ensembl 70_37 +1 known splice_site c.387-1 e6-1 1.000 - - - no_errors BBS5 HGNC ENSG00000163093 21 26 55.32 49 0 0.00 BBS7 55212 genome.wustl.edu 37 4 122749661 122749661 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 122749661 122749661 C G SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known splice_site c.1787-1 e17-1 1.000 - - - no_errors BBS7 HGNC ENSG00000138686 11 9 45.00 18 0 0.00 BBS7 55212 genome.wustl.edu 37 4 122754426 122754426 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 122754426 122754426 G A SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known nonsense c.1636 p.Q546* 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 52 16 23.53 36 0 0.00 BBS7 55212 genome.wustl.edu 37 4 122780308 122780308 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 122780308 122780308 G A SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known missense c.367 p.L123F 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 45 8 15.09 45 0 0.00 BBS9 27241 genome.wustl.edu 37 7 33296998 33296998 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 33296998 33296998 C G SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known missense c.593 p.S198C 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 20 15 42.86 56 0 0.00 BBS9 27241 genome.wustl.edu 37 7 33312684 33312684 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 33312684 33312684 C T SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 29 20 40.82 86 0 0.00 BBS9 27241 genome.wustl.edu 37 7 33313525 33313525 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 33313525 33313525 C G SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known missense c.973 p.Q325E 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 22 10 31.25 45 0 0.00 BBS9 27241 genome.wustl.edu 37 7 33545330 33545330 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 33545330 33545330 G A SNP BBS9 ENST00000489708 human ensembl 70_37 +1 putative rna NULL NULL 0.130 - - - no_errors BBS9 HGNC ENSG00000122507 5 10 66.67 10 0 0.00 BBX 56987 genome.wustl.edu 37 3 107466855 107466855 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 107466855 107466855 G A SNP BBX ENST00000325805 human ensembl 70_37 +1 known missense c.794 p.C265Y 1.000 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 64 11 14.67 53 0 0.00 BBX 56987 genome.wustl.edu 37 3 107474452 107474452 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 107474452 107474452 C G SNP BBX ENST00000325805 human ensembl 70_37 +1 known nonsense c.833 p.S278* 1.000 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 52 6 10.34 43 0 0.00 BBX 56987 genome.wustl.edu 37 3 107492169 107492169 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 107492169 107492169 G C SNP BBX ENST00000325805 human ensembl 70_37 +1 known missense c.1601 p.R534T 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 7 3 30.00 15 0 0.00 BCAM 4059 genome.wustl.edu 37 19 45322970 45322970 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 45322970 45322970 G C SNP BCAM ENST00000270233 human ensembl 70_37 +1 known missense c.1750 p.E584Q 0.976 NULL pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BCAM HGNC ENSG00000187244 35 17 32.69 33 0 0.00 BCAN 63827 genome.wustl.edu 37 1 156615935 156615935 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 156615935 156615935 C T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.89 p.S30L 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC ENSG00000132692 92 14 13.21 62 0 0.00 BCAN 63827 genome.wustl.edu 37 1 156617318 156617318 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156617318 156617318 G A SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.485 p.R162Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC ENSG00000132692 18 12 40.00 35 0 0.00 BCAN 63827 genome.wustl.edu 37 1 156617459 156617459 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 156617459 156617459 C T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.626 p.S209L 0.963 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC ENSG00000132692 81 56 40.29 128 0 0.00 BCAN 63827 genome.wustl.edu 37 1 156622156 156622156 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 156622156 156622156 G A SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.1414 p.E472K 0.981 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC ENSG00000132692 61 9 12.86 38 0 0.00 BCAN 63827 genome.wustl.edu 37 1 156622655 156622655 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156622655 156622655 G T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.1913 p.R638L 0.039 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC ENSG00000132692 193 29 13.06 197 0 0.00 BCAP29 55973 genome.wustl.edu 37 7 107240940 107240940 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 107240940 107240940 G C SNP BCAP29 ENST00000379119 human ensembl 70_37 +1 known missense c.579 p.K193N 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 64 13 16.88 52 0 0.00 BCAP29 55973 genome.wustl.edu 37 7 107254114 107254114 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 107254114 107254114 G A SNP BCAP29 ENST00000379119 human ensembl 70_37 +1 known missense c.706 p.E236K 0.002 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 9 3 25.00 32 0 0.00 BCAP31 10134 genome.wustl.edu 37 X 152981118 152981118 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 152981118 152981118 C T SNP BCAP31 ENST00000458587 human ensembl 70_37 -1 known missense c.421 p.D141N 0.915 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 26 58 69.05 106 0 0.00 BCAR1 9564 genome.wustl.edu 37 16 75263742 75263742 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 16 75263742 75263742 G A SNP BCAR1 ENST00000418647 human ensembl 70_37 -1 known silent c.2418 p.N806 0.997 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 68 27 28.42 110 0 0.00 BCAR1 9564 genome.wustl.edu 37 16 75301816 75301816 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 75301816 75301816 G A SNP BCAR1 ENST00000393422 human ensembl 70_37 -1 known silent c.63 p.L21 0.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 112 32 22.22 121 0 0.00 BCAR3 8412 genome.wustl.edu 37 1 94032962 94032962 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94032962 94032962 C T SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known missense c.2173 p.E725K 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 33 11 25.00 51 0 0.00 BCAR3 8412 genome.wustl.edu 37 1 94047999 94047999 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 94047999 94047999 G A SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known silent c.1545 p.F515 0.999 superfamily_Ras_GEF_dom pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 109 34 23.78 123 0 0.00 BCAR3 8412 genome.wustl.edu 37 1 94079453 94079453 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 94079453 94079453 G C SNP BCAR3 ENST00000370247 human ensembl 70_37 -1 known nonsense c.35 p.S12* 0.993 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 35 19 35.19 70 0 0.00 BCAR3 8412 genome.wustl.edu 37 1 94140433 94140433 + Missense_Mutation SNP C C A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 94140433 94140433 C A SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known missense c.54 p.Q18H 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 35 16 31.37 43 0 0.00 BCAR4 400500 genome.wustl.edu 37 16 11913897 11913897 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11913897 11913897 G C SNP BCAR4 ENST00000571158 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BCAR4 HGNC ENSG00000262117 60 24 28.57 32 0 0.00 BCAS1 8537 genome.wustl.edu 37 20 52601929 52601929 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 52601929 52601929 G A SNP BCAS1 ENST00000371440 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.002 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 58 14 19.44 100 0 0.00 BCAS2 10286 genome.wustl.edu 37 1 115118335 115118335 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 115118335 115118335 C G SNP BCAS2 ENST00000369541 human ensembl 70_37 -1 known missense c.295 p.D99H 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC ENSG00000116752 25 3 10.71 47 0 0.00 BCAS2 10286 genome.wustl.edu 37 1 115124155 115124155 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 115124155 115124155 C G SNP BCAS2 ENST00000369541 human ensembl 70_37 -1 known missense c.58 p.D20H 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC ENSG00000116752 32 15 31.91 51 0 0.00 BCAS3 54828 genome.wustl.edu 37 17 59155836 59155836 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 59155836 59155836 C T SNP BCAS3 ENST00000390652 human ensembl 70_37 +1 known missense c.2318 p.T773M 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 53 16 23.19 82 0 0.00 BCAS3 54828 genome.wustl.edu 37 17 59161923 59161923 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 59161923 59161923 C G SNP BCAS3 ENST00000390652 human ensembl 70_37 +1 known nonsense c.2468 p.S823* 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 8 5 38.46 30 0 0.00 BCAS4 55653 genome.wustl.edu 37 20 49458338 49458338 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 49458338 49458338 C G SNP BCAS4 ENST00000358791 human ensembl 70_37 +1 known missense c.390 p.F130L 1.000 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 32 15 31.91 56 0 0.00 BCAT1 586 genome.wustl.edu 37 12 24987042 24987042 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 24987042 24987042 G A SNP BCAT1 ENST00000544418 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BCAT1 HGNC ENSG00000060982 36 27 42.86 37 0 0.00 BCAT1 586 genome.wustl.edu 37 12 24995103 24995103 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 24995103 24995103 G A SNP BCAT1 ENST00000261192 human ensembl 70_37 -1 known nonsense c.730 p.Q244* 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 36 4 10.00 37 0 0.00 BCAT2 587 genome.wustl.edu 37 19 49298713 49298713 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 49298713 49298713 G C SNP BCAT2 ENST00000316273 human ensembl 70_37 -1 known missense c.1149 p.I383M 0.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 36 12 25.00 40 0 0.00 BCAT2 587 genome.wustl.edu 37 19 49300457 49300457 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 49300457 49300457 C T SNP BCAT2 ENST00000316273 human ensembl 70_37 -1 known missense c.829 p.E277K 0.769 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 43 5 10.42 46 0 0.00 BCDIN3D 144233 genome.wustl.edu 37 12 50236730 50236730 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 50236730 50236730 G A SNP BCDIN3D ENST00000550861 human ensembl 70_37 -1 putative missense c.119 p.S40F 0.998 NULL NULL - no_errors BCDIN3D HGNC ENSG00000186666 26 8 23.53 42 0 0.00 BCHE 590 genome.wustl.edu 37 3 165504083 165504083 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 165504083 165504083 G C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.1534 p.Q512E 0.950 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 69 24 25.81 33 0 0.00 BCHE 590 genome.wustl.edu 37 3 165547700 165547700 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 165547700 165547700 A C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known silent c.1122 p.T374 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 20 9 31.03 16 0 0.00 BCHE 590 genome.wustl.edu 37 3 165547887 165547887 + Missense_Mutation SNP G G C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 3 165547887 165547887 G C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.935 p.T312S 0.012 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 13 8 38.10 28 0 0.00 BCHE 590 genome.wustl.edu 37 3 165548329 165548329 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 165548329 165548329 C T SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 34 12 26.09 31 0 0.00 BCHE 590 genome.wustl.edu 37 3 165548614 165548614 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 165548614 165548614 G A SNP BCHE ENST00000264381 human ensembl 70_37 -1 known nonsense c.208 p.R70* 0.995 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 28 17 37.78 68 0 0.00 BCKDHA 593 genome.wustl.edu 37 19 41916713 41916713 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 41916713 41916713 G C SNP BCKDHA ENST00000595085 human ensembl 70_37 +1 known missense c.382 p.D128H 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 32 13 28.89 31 0 0.00 BCKDHB 594 genome.wustl.edu 37 6 80881080 80881080 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 80881080 80881080 G T SNP BCKDHB ENST00000320393 human ensembl 70_37 +1 known nonsense c.715 p.E239* 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 9 3 25.00 25 0 0.00 BCKDK 10295 genome.wustl.edu 37 16 31121606 31121606 + Silent SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 16 31121606 31121606 C G SNP BCKDK ENST00000219794 human ensembl 70_37 +1 known silent c.504 p.L168 0.997 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 15 13 46.43 36 0 0.00 BCKDK 10295 genome.wustl.edu 37 16 31121765 31121765 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 31121765 31121765 C T SNP BCKDK ENST00000219794 human ensembl 70_37 +1 known missense c.587 p.S196L 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 6 3 33.33 12 0 0.00 BCL10 8915 genome.wustl.edu 37 1 85742018 85742018 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 85742018 85742018 C A SNP BCL10 ENST00000271015 human ensembl 70_37 -1 known silent c.18 p.P6 0.997 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 184 43 18.94 280 0 0.00 BCL11A 53335 genome.wustl.edu 37 2 60686967 60686967 + RNA SNP T T C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 60686967 60686967 T C SNP BCL11A ENST00000477659 human ensembl 70_37 -1 known rna NULL NULL 0.852 - - - no_errors BCL11A HGNC ENSG00000119866 27 24 47.06 41 0 0.00 BCL11A 53335 genome.wustl.edu 37 2 60687401 60687404 + RNA DEL TGTT TGTT - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 60687401 60687404 TGTT - DEL BCL11A ENST00000477659 human ensembl 70_37 -1 known rna NULL NULL 0.931:0.749:0.696:0.327 - - - no_errors BCL11A HGNC ENSG00000119866 13 4 23.53 26 0 0.00 BCL11A 53335 genome.wustl.edu 37 2 60695969 60695969 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 60695969 60695969 C G SNP BCL11A ENST00000335712 human ensembl 70_37 -1 known splice_site c.386-1 e3-1 1.000 - - - no_errors BCL11A HGNC ENSG00000119866 41 10 19.61 42 0 0.00 BCL11A 53335 genome.wustl.edu 37 2 60780445 60780445 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 60780445 60780445 C T SNP BCL11A ENST00000409351 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors BCL11A HGNC ENSG00000119866 14 10 41.67 23 0 0.00 BCL11B 64919 genome.wustl.edu 37 14 99640539 99640539 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 14 99640539 99640539 G A SNP BCL11B ENST00000357195 human ensembl 70_37 -1 known silent c.2634 p.G878 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 35 20 36.36 45 0 0.00 BCL2L1 598 genome.wustl.edu 37 20 30309776 30309776 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 30309776 30309776 G C SNP BCL2L1 ENST00000307677 human ensembl 70_37 -1 known silent c.246 p.P82 1.000 prints_Apop_reg_BclX,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX - no_errors BCL2L1 HGNC ENSG00000171552 227 42 15.56 39 0 0.00 BCL2L11 10018 genome.wustl.edu 37 2 111907693 111907693 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 111907693 111907693 G A SNP BCL2L11 ENST00000393256 human ensembl 70_37 +1 known missense c.467 p.G156E 1.000 pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 23 33 58.93 61 0 0.00 BCL2L11 10018 genome.wustl.edu 37 2 111907704 111907704 + Frame_Shift_Del DEL A A - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 2 111907704 111907704 A - DEL BCL2L11 ENST00000393256 human ensembl 70_37 +1 known frame_shift_del c.478 p.N160fs 0.983 pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 19 23 54.76 63 0 0.00 BCL2L11 10018 genome.wustl.edu 37 2 111921762 111921763 + Frame_Shift_Ins INS - - A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 111921762 111921763 - A INS BCL2L11 ENST00000393256 human ensembl 70_37 +1 known frame_shift_ins c.551_552 p.R185fs 0.960:0.922 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 39 41 51.25 34 0 0.00 BCL2L12 83596 genome.wustl.edu 37 19 50169213 50169213 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50169213 50169213 C G SNP BCL2L12 ENST00000246785 human ensembl 70_37 +1 known missense c.133 p.R45G 0.001 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 40 19 32.20 52 0 0.00 BCL2L13 23786 genome.wustl.edu 37 22 18138488 18138488 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 18138488 18138488 C G SNP BCL2L13 ENST00000317582 human ensembl 70_37 +1 known missense c.11 p.S4C 0.995 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 48 30 38.46 88 0 0.00 BCL2L15 440603 genome.wustl.edu 37 1 114429234 114429234 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114429234 114429234 C T SNP BCL2L15 ENST00000393316 human ensembl 70_37 -1 known silent c.174 p.R58 0.262 NULL NULL - no_errors BCL2L15 HGNC ENSG00000188761 14 15 51.72 65 0 0.00 BCL3 602 genome.wustl.edu 37 19 45261992 45261992 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 45261992 45261992 C G SNP BCL3 ENST00000164227 human ensembl 70_37 +1 known missense c.1071 p.I357M 0.972 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 4 4 50.00 19 0 0.00 BCL3 602 genome.wustl.edu 37 19 45262839 45262839 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 45262839 45262839 G A SNP BCL3 ENST00000164227 human ensembl 70_37 +1 known silent c.1332 p.P444 0.173 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 67 123 64.74 104 0 0.00 BCL6 604 genome.wustl.edu 37 3 187443293 187443293 + Frame_Shift_Del DEL A A - TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 187443293 187443293 A - DEL BCL6 ENST00000232014 human ensembl 70_37 -1 known frame_shift_del c.1833 p.F611fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 73 22 23.16 81 0 0.00 BCL6 604 genome.wustl.edu 37 3 187443392 187443392 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 187443392 187443392 G T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known silent c.1734 p.I578 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 59 26 30.59 78 0 0.00 BCL6 604 genome.wustl.edu 37 3 187444680 187444680 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 187444680 187444680 C T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known missense c.1547 p.G516E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 32 4 11.11 31 0 0.00 BCL6 604 genome.wustl.edu 37 3 187447542 187447542 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 187447542 187447542 C T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known silent c.651 p.R217 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 95 27 22.13 58 0 0.00 BCL6B 255877 genome.wustl.edu 37 17 6930847 6930847 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 6930847 6930847 G A SNP BCL6B ENST00000293805 human ensembl 70_37 +1 known missense c.1349 p.R450Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 61 20 24.69 64 0 0.00 BCL7C 9274 genome.wustl.edu 37 16 30846270 30846270 + Nonstop_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 30846270 30846270 C G SNP BCL7C ENST00000380317 human ensembl 70_37 -1 known nonstop c.728 p.*243S 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 101 16 13.68 66 0 0.00 BCL9 607 genome.wustl.edu 37 1 147078585 147078585 + RNA SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 147078585 147078585 C T SNP BCL9 ENST00000497938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BCL9 HGNC ENSG00000116128 23 9 28.12 33 0 0.00 BCL9 607 genome.wustl.edu 37 1 147086292 147086292 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 147086292 147086292 C G SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known nonsense c.437 p.S146* 0.997 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 42 19 30.65 81 0 0.00 BCL9 607 genome.wustl.edu 37 1 147090719 147090719 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 147090719 147090719 G C SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.758 p.R253T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 203 28 12.07 192 0 0.00 BCL9 607 genome.wustl.edu 37 1 147091935 147091935 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147091935 147091935 G A SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.1974 p.M658I 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 33 29 46.77 58 0 0.00 BCL9 607 genome.wustl.edu 37 1 147091935 147091935 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147091935 147091935 G A SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.1974 p.M658I 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 35 39 52.70 28 0 0.00 BCL9 607 genome.wustl.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147092680 147092681 - C INS BCL9 ENST00000234739 human ensembl 70_37 +1 known frame_shift_ins c.2719_2720 p.V910fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 102 36 26.09 117 0 0.00 BCL9 607 genome.wustl.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 147092680 147092681 - C INS BCL9 ENST00000234739 human ensembl 70_37 +1 known frame_shift_ins c.2719_2720 p.V910fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 36 7 16.28 21 0 0.00 BCL9 607 genome.wustl.edu 37 1 147096044 147096044 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 147096044 147096044 G C SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.3565 p.D1189H 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 25 23 47.92 42 0 0.00 BCL9 607 genome.wustl.edu 37 1 147096378 147096378 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 147096378 147096378 C T SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.3899 p.P1300L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 14 35 71.43 33 0 0.00 BCL9L 283149 genome.wustl.edu 37 11 118769063 118769063 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118769063 118769063 G C SNP BCL9L ENST00000526143 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BCL9L HGNC ENSG00000186174 33 32 49.23 42 0 0.00 BCL9L 283149 genome.wustl.edu 37 11 118772086 118772086 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 118772086 118772086 G A SNP BCL9L ENST00000334801 human ensembl 70_37 -1 known missense c.2366 p.T789I 0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 52 28 35.00 57 0 0.00 BCL9L 283149 genome.wustl.edu 37 11 118772426 118772426 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 118772426 118772426 C T SNP BCL9L ENST00000334801 human ensembl 70_37 -1 known missense c.2026 p.E676K 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 61 15 19.74 99 0 0.00 BCL9L 283149 genome.wustl.edu 37 11 118772555 118772555 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 118772555 118772555 C T SNP BCL9L ENST00000334801 human ensembl 70_37 -1 known missense c.1897 p.V633M 0.795 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 35 10 22.22 46 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136582162 136582162 + RNA SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 136582162 136582162 G T SNP BCLAF1 ENST00000529917 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BCLAF1 HGNC ENSG00000029363 48 6 11.11 46 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136597209 136597209 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136597209 136597209 G C SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.1454 p.S485C 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 68 10 12.82 66 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136597237 136597237 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 136597237 136597237 C G SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.1426 p.D476H 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 118 39 24.84 172 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136599059 136599059 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 136599059 136599059 C T SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known silent c.960 p.S320 0.934 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 97 23 19.01 102 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136599126 136599126 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 136599126 136599126 C T SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.893 p.R298Q 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 137 31 18.45 255 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136599535 136599535 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136599535 136599535 G C SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.484 p.Q162E 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 59 10 14.49 70 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136599911 136599911 + Silent SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 136599911 136599911 A G SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known silent c.108 p.S36 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 34 5 12.82 47 0 0.00 BCLAF1 9774 genome.wustl.edu 37 6 136600994 136600994 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 136600994 136600994 G A SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.11 p.S4F 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 34 20 37.04 129 0 0.00 BCMO1 53630 genome.wustl.edu 37 16 81295871 81295871 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 81295871 81295871 C T SNP BCMO1 ENST00000258168 human ensembl 70_37 +1 known silent c.454 p.L152 0.970 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 20 16 44.44 28 0 0.00 BCO2 83875 genome.wustl.edu 37 11 112064657 112064657 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 112064657 112064657 C T SNP BCO2 ENST00000357685 human ensembl 70_37 +1 known silent c.573 p.L191 0.982 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 33 10 23.26 61 0 0.00 BCO2 83875 genome.wustl.edu 37 11 112071405 112071405 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 112071405 112071405 C T SNP BCO2 ENST00000357685 human ensembl 70_37 +1 known missense c.935 p.S312F 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 22 6 21.43 50 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39913549 39913549 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 39913549 39913549 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.4779 p.D1593 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 10 10 50.00 49 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39922921 39922921 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 39922921 39922921 C A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known nonsense c.3787 p.E1263* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 149 26 14.86 175 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39931728 39931728 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 39931728 39931728 C T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.2871 p.P957 0.992 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 42 22 34.38 52 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39932327 39932327 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 39932327 39932327 G T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.2272 p.P758T 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 249 68 21.38 349 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39932689 39932689 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 39932689 39932689 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.1910 p.S637F 0.969 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 89 30 25.21 107 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39933165 39933165 + Silent SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 39933165 39933165 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.1434 p.S478 0.315 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 26 19 42.22 27 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39933798 39933798 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 39933798 39933798 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.801 p.L267 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 69 20 22.47 93 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39934233 39934233 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 39934233 39934233 C T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.366 p.M122I 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 36 22 37.93 73 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39937175 39937175 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 39937175 39937175 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.8 p.S3L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 42 9 17.65 35 0 0.00 BCOR 54880 genome.wustl.edu 37 X 39937175 39937175 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 39937175 39937175 G C SNP BCOR ENST00000378444 human ensembl 70_37 -1 known nonsense c.8 p.S3* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 21 11 34.38 32 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129139195 129139195 + RNA SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 129139195 129139195 G A SNP BCORL1 ENST00000488135 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors BCORL1 HGNC ENSG00000085185 57 14 19.72 59 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129139210 129139210 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 129139210 129139210 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 30 17 36.17 55 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129148261 129148261 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 129148261 129148261 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.1513 p.A505T 0.976 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 68 14 17.07 53 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129148350 129148350 + Silent SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 X 129148350 129148350 C T SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known silent c.1602 p.S534 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 33 11 25.00 62 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129148724 129148724 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 129148724 129148724 C A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.1976 p.S659Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 38 14 26.92 29 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129155081 129155081 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 129155081 129155081 C T SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.3563 p.P1188L 0.904 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 22 12 35.29 36 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129159284 129159284 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 129159284 129159284 G C SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.4008 p.K1336N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 28 13 31.71 29 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129171479 129171479 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 129171479 129171479 C T SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known silent c.4665 p.N1555 0.481 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 56 56 50.00 67 0 0.00 BCORL1 63035 genome.wustl.edu 37 X 129173217 129173217 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 129173217 129173217 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.4800 p.M1600I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 28 53 65.43 106 0 0.00 BCR 613 genome.wustl.edu 37 22 23523873 23523873 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 23523873 23523873 C G SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.726 p.V242 0.068 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 41 14 25.45 59 0 0.00 BCR 613 genome.wustl.edu 37 22 23524281 23524281 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 23524281 23524281 C T SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.1134 p.F378 0.111 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 45 15 25.00 65 0 0.00 BCR 613 genome.wustl.edu 37 22 23603578 23603578 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 23603578 23603578 C T SNP BCR ENST00000305877 human ensembl 70_37 +1 known nonsense c.1603 p.Q535* 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 175 32 15.46 286 0 0.00 BCR 613 genome.wustl.edu 37 22 23610658 23610658 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 23610658 23610658 G C SNP BCR ENST00000305877 human ensembl 70_37 +1 known missense c.1816 p.E606Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 38 18 32.14 56 0 0.00 BCR 613 genome.wustl.edu 37 22 23637246 23637246 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 23637246 23637246 G A SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.2916 p.L972 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 35 17 32.69 71 0 0.00 BCR 613 genome.wustl.edu 37 22 23658000 23658000 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 23658000 23658000 G A SNP BCR ENST00000436990 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors BCR HGNC ENSG00000186716 20 4 16.67 20 0 0.00 BCR 613 genome.wustl.edu 37 22 23658361 23658361 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 23658361 23658361 T C SNP BCR ENST00000436990 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 25 11 30.56 19 0 0.00 BCS1L 617 genome.wustl.edu 37 2 219526252 219526252 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 219526252 219526252 C G SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known missense c.444 p.F148L 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 36 6 14.29 66 0 0.00 BCS1L 617 genome.wustl.edu 37 2 219526522 219526522 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219526522 219526522 G A SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 16 12 42.86 36 0 0.00 BCS1L 617 genome.wustl.edu 37 2 219526572 219526572 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219526572 219526572 G A SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known missense c.551 p.R184H 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 14 16 53.33 28 0 0.00 BDH1 622 genome.wustl.edu 37 3 197239047 197239047 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197239047 197239047 C T SNP BDH1 ENST00000358186 human ensembl 70_37 -1 known missense c.751 p.E251K 0.994 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 55 20 26.67 44 0 0.00 BDH1 622 genome.wustl.edu 37 3 197281579 197281579 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 197281579 197281579 G A SNP BDH1 ENST00000476764 human ensembl 70_37 -1 putative rna NULL NULL 0.151 - - - no_errors BDH1 HGNC ENSG00000161267 159 21 11.60 31 0 0.00 BDKRB1 623 genome.wustl.edu 37 14 96730151 96730151 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 96730151 96730151 C T SNP BDKRB1 ENST00000216629 human ensembl 70_37 +1 known silent c.132 p.I44 0.172 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 24 10 29.41 39 0 0.00 BDKRB1 623 genome.wustl.edu 37 14 96730334 96730334 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 96730334 96730334 C T SNP BDKRB1 ENST00000216629 human ensembl 70_37 +1 known silent c.315 p.F105 0.975 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 26 17 39.53 36 0 0.00 BDKRB2 624 genome.wustl.edu 37 14 96707124 96707124 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 96707124 96707124 C T SNP BDKRB2 ENST00000306005 human ensembl 70_37 +1 known silent c.459 p.I153 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_B2_bradkn_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 18 23 56.10 46 0 0.00 BDNF 627 genome.wustl.edu 37 11 27678712 27678712 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 27678712 27678712 C G SNP BDNF ENST00000584049 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors BDNF HGNC ENSG00000176697 11 5 31.25 17 0 0.00 BDNF-AS 497258 genome.wustl.edu 37 11 27561609 27561609 + RNA SNP T T G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 27561609 27561609 T G SNP BDNF-AS ENST00000499008 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors BDNF-AS HGNC ENSG00000245573 27 22 44.90 41 0 0.00 BDNF-AS 497258 genome.wustl.edu 37 11 27680868 27680868 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 27680868 27680868 C T SNP BDNF-AS ENST00000530313 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors BDNF-AS HGNC ENSG00000245573 11 8 42.11 55 0 0.00 BDNF-AS 497258 genome.wustl.edu 37 11 27681051 27681051 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 27681051 27681051 C G SNP BDNF-AS ENST00000530313 human ensembl 70_37 +1 known rna NULL NULL 0.858 - - - no_errors BDNF-AS HGNC ENSG00000245573 6 5 45.45 29 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70800496 70800496 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 70800496 70800496 G T SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.2290 p.D764Y 0.037 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 49 9 15.52 78 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70805710 70805710 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 70805710 70805710 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.2791 p.E931K 0.019 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 17 12 41.38 26 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70806208 70806208 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 70806208 70806208 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3289 p.E1097K 0.031 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 55 19 25.00 59 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70806373 70806373 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 70806373 70806373 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3454 p.E1152K 0.368 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 15 2 11.76 12 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70806877 70806877 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 70806877 70806877 G C SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3958 p.E1320Q 0.030 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 4 9 69.23 14 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70808110 70808110 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 70808110 70808110 G C SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.4102 p.E1368Q 0.569 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 25 18 41.86 76 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70808182 70808182 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 70808182 70808182 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.4174 p.E1392K 0.042 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 24 44 64.71 131 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70837407 70837407 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 70837407 70837407 C G SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.6149 p.S2050C 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 122 36 22.78 176 0 0.00 BDP1 55814 genome.wustl.edu 37 5 70845414 70845414 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 70845414 70845414 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.6976 p.E2326K 0.184 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 50 37 42.53 105 0 0.00 BEAN1 146227 genome.wustl.edu 37 16 66526895 66526895 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 66526895 66526895 C T SNP BEAN1 ENST00000561796 human ensembl 70_37 +1 novel nonsense c.178 p.R60* 0.056 NULL NULL - no_errors BEAN1 HGNC ENSG00000166546 7 11 61.11 20 0 0.00 BECN1 8678 genome.wustl.edu 37 17 40963707 40963707 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40963707 40963707 C G SNP BECN1 ENST00000361523 human ensembl 70_37 -1 known missense c.1150 p.E384Q 1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 59 40 40.40 102 0 0.00 BEGAIN 57596 genome.wustl.edu 37 14 101005410 101005410 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 101005410 101005410 G A SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 25 14 35.90 25 0 0.00 BEGAIN 57596 genome.wustl.edu 37 14 101005433 101005433 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 101005433 101005433 G A SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.655 p.R219W 0.229 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 16 11 40.74 34 0 0.00 BEGAIN 57596 genome.wustl.edu 37 14 101010247 101010247 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101010247 101010247 T G SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.299 p.N100T 1.000 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 17 18 51.43 46 0 0.00 BEGAIN 57596 genome.wustl.edu 37 14 101012896 101012896 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101012896 101012896 C T SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.118 p.E40K 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 52 50 49.02 72 0 0.00 BEGAIN 57596 genome.wustl.edu 37 14 101012989 101012989 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 101012989 101012989 C T SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.25 p.E9K 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 47 21 30.43 68 0 0.00 BEND2 139105 genome.wustl.edu 37 X 18183237 18183237 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 18183237 18183237 G A SNP BEND2 ENST00000380033 human ensembl 70_37 -1 known silent c.2292 p.D764 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 19 7 25.93 39 0 0.00 BEND2 139105 genome.wustl.edu 37 X 18189170 18189170 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 18189170 18189170 C T SNP BEND2 ENST00000380033 human ensembl 70_37 -1 known silent c.2136 p.L712 0.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 46 6 11.54 55 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107391662 107391662 + Nonsense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 107391662 107391662 C A SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known nonsense c.733 p.E245* 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 23 8 25.81 53 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107391786 107391786 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 107391786 107391786 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known silent c.609 p.L203 0.993 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 32 18 36.00 52 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107391958 107391958 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 107391958 107391958 G A SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.437 p.S146L 0.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 165 101 37.97 285 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107392134 107392134 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 107392134 107392134 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known silent c.261 p.R87 0.996 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 13 5 27.78 28 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107419757 107419757 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 107419757 107419757 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.238 p.E80K 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 13 22 62.86 30 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107419825 107419825 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 107419825 107419825 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.170 p.R57Q 0.993 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 24 7 22.58 30 0 0.00 BEND3 57673 genome.wustl.edu 37 6 107419870 107419870 + Missense_Mutation SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 107419870 107419870 T C SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.125 p.H42R 0.925 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 20 13 39.39 37 0 0.00 BEND4 389206 genome.wustl.edu 37 4 42145723 42145723 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 42145723 42145723 G A SNP BEND4 ENST00000502486 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 55 12 17.91 64 0 0.00 BEND6 221336 genome.wustl.edu 37 6 56846694 56846694 + Nonsense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 56846694 56846694 C G SNP BEND6 ENST00000370746 human ensembl 70_37 +1 known nonsense c.86 p.S29* 1.000 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 1 4 80.00 14 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13481266 13481266 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 13481266 13481266 G A SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.1466 p.S489L 0.002 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 83 43 34.13 62 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13489309 13489309 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 13489309 13489309 C T SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known silent c.1191 p.A397 0.978 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 32 16 33.33 60 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13534659 13534659 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 13534659 13534659 C G SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.789 p.E263D 0.714 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 27 16 37.21 27 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13534813 13534813 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13534813 13534813 G C SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known nonsense c.635 p.S212* 0.998 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 16 14 46.67 28 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13538811 13538811 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 13538811 13538811 G C SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.526 p.L176V 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 77 11 12.50 78 0 0.00 BEND7 222389 genome.wustl.edu 37 10 13538864 13538864 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13538864 13538864 G A SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.473 p.S158L 0.772 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 38 28 41.79 62 0 0.00 BEST1 7439 genome.wustl.edu 37 11 61722613 61722613 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61722613 61722613 G C SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known missense c.7 p.E3Q 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 24 11 31.43 47 0 0.00 BEST1 7439 genome.wustl.edu 37 11 61723284 61723284 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 61723284 61723284 C T SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known silent c.162 p.V54 0.948 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 3 3 50.00 9 0 0.00 BEST1 7439 genome.wustl.edu 37 11 61730086 61730086 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61730086 61730086 C G SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known nonsense c.1280 p.S427* 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 24 11 31.43 30 0 0.00 BEST2 54831 genome.wustl.edu 37 19 12865773 12865773 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12865773 12865773 C A SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known missense c.564 p.F188L 0.987 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 23 15 39.47 46 0 0.00 BEST2 54831 genome.wustl.edu 37 19 12868588 12868588 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 12868588 12868588 G T SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known silent c.1227 p.P409 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 39 25 39.06 56 0 0.00 BEST2 54831 genome.wustl.edu 37 19 12868679 12868679 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 12868679 12868679 G A SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known missense c.1318 p.E440K 0.890 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 41 20 32.79 47 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70037512 70037512 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 70037512 70037512 G C SNP BEST3 ENST00000331471 human ensembl 70_37 -1 known missense c.1156 p.Q386E 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 109 31 22.14 73 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70048688 70048688 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 70048688 70048688 C T SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known silent c.2006 p.*669 0.015 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 31 11 26.19 63 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70048731 70048731 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 70048731 70048731 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1963 p.D655H 0.968 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 73 15 17.05 93 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70048836 70048836 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 70048836 70048836 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1858 p.D620H 0.302 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 36 26 41.94 78 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70049417 70049417 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 70049417 70049417 C A SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1277 p.R426L 0.020 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 39 31 44.29 70 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70070807 70070807 + Silent SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 70070807 70070807 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known silent c.756 p.L252 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 79 13 14.13 73 0 0.00 BEST3 144453 genome.wustl.edu 37 12 70087583 70087583 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 12 70087583 70087583 C T SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 44 5 10.20 67 0 0.00 BEST4 266675 genome.wustl.edu 37 1 45253071 45253071 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 45253071 45253071 C T SNP BEST4 ENST00000372207 human ensembl 70_37 -1 known missense c.220 p.D74N 0.986 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 30 17 36.17 47 0 0.00 BEST4 266675 genome.wustl.edu 37 1 45253357 45253357 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 45253357 45253357 G A SNP BEST4 ENST00000372207 human ensembl 70_37 -1 known silent c.21 p.L7 0.917 NULL pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 7 8 53.33 11 0 0.00 BET1 10282 genome.wustl.edu 37 7 93605249 93605249 + RNA SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 93605249 93605249 C A SNP BET1 ENST00000471446 human ensembl 70_37 -1 known rna NULL NULL 0.100 - - - no_errors BET1 HGNC ENSG00000105829 46 25 35.21 78 0 0.00 BEX5 340542 genome.wustl.edu 37 X 101408943 101408943 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101408943 101408943 G C SNP BEX5 ENST00000333643 human ensembl 70_37 -1 known missense c.295 p.P99A 0.971 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX5 HGNC ENSG00000184515 28 16 36.36 52 0 0.00 BFAR 51283 genome.wustl.edu 37 16 14749014 14749014 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 14749014 14749014 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 115 81 41.33 192 0 0.00 BFAR 51283 genome.wustl.edu 37 16 14749014 14749014 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 14749014 14749014 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 26 35 57.38 28 0 0.00 BFAR 51283 genome.wustl.edu 37 16 14749053 14749053 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 14749053 14749053 C A SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.769 p.L257I 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 11 2 15.38 22 0 0.00 BFAR 51283 genome.wustl.edu 37 16 14761513 14761513 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 14761513 14761513 G C SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.1182 p.W394C 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 60 36 37.11 46 0 0.00 BFSP1 631 genome.wustl.edu 37 20 17474751 17474751 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 17474751 17474751 C G SNP BFSP1 ENST00000377873 human ensembl 70_37 -1 known missense c.1966 p.D656H 0.995 NULL pfam_F,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 46 16 25.81 58 0 0.00 BFSP1 631 genome.wustl.edu 37 20 17475568 17475568 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 17475568 17475568 G A SNP BFSP1 ENST00000377873 human ensembl 70_37 -1 known silent c.1149 p.N383 0.000 NULL pfam_F,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 53 10 15.87 107 0 0.00 BGN 633 genome.wustl.edu 37 X 152771463 152771463 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152771463 152771463 G A SNP BGN ENST00000331595 human ensembl 70_37 +1 known missense c.494 p.R165H 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 23 13 36.11 29 0 0.00 BGN 633 genome.wustl.edu 37 X 152771463 152771463 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152771463 152771463 G A SNP BGN ENST00000331595 human ensembl 70_37 +1 known missense c.494 p.R165H 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 40 10 18.87 73 0 0.00 BGN 633 genome.wustl.edu 37 X 152772340 152772340 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 152772340 152772340 C T SNP BGN ENST00000331595 human ensembl 70_37 +1 known silent c.729 p.A243 0.050 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 35 13 27.08 60 0 0.00 BGN 633 genome.wustl.edu 37 X 152774523 152774523 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152774523 152774523 G C SNP BGN ENST00000472615 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors BGN HGNC ENSG00000182492 20 9 30.00 21 0 0.00 BHLHA15 168620 genome.wustl.edu 37 7 97842040 97842040 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 97842040 97842040 C T SNP BHLHA15 ENST00000314018 human ensembl 70_37 +1 known missense c.419 p.P140L 0.968 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors BHLHA15 HGNC ENSG00000180535 38 20 34.48 33 0 0.00 BHLHB9 80823 genome.wustl.edu 37 X 102004336 102004336 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 102004336 102004336 A G SNP BHLHB9 ENST00000361229 human ensembl 70_37 +1 known missense c.413 p.D138G 0.199 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 84 13 13.40 108 0 0.00 BHLHE22 27319 genome.wustl.edu 37 8 65494020 65494021 + In_Frame_Ins INS - - GCA TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 65494020 65494021 - GCA INS BHLHE22 ENST00000321870 human ensembl 70_37 +1 known in_frame_ins c.673_674 p.229in_frame_insS 0.719:0.703 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 4 2 33.33 9 0 0.00 BHLHE22 27319 genome.wustl.edu 37 8 65494180 65494180 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 8 65494180 65494180 G A SNP BHLHE22 ENST00000321870 human ensembl 70_37 +1 known missense c.833 p.R278Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 19 9 32.14 21 0 0.00 BHLHE40 8553 genome.wustl.edu 37 3 5025226 5025226 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 5025226 5025226 C G SNP BHLHE40 ENST00000256495 human ensembl 70_37 +1 known missense c.1088 p.S363C 0.124 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 159 48 23.19 231 0 0.00 BHLHE40 8553 genome.wustl.edu 37 3 5025281 5025281 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 5025281 5025281 C T SNP BHLHE40 ENST00000256495 human ensembl 70_37 +1 known silent c.1143 p.L381 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 165 42 20.29 223 0 0.00 BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4940482 4940482 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 4940482 4940482 C A SNP BHLHE40-AS1 ENST00000438479 human ensembl 70_37 -1 known rna NULL NULL 0.504 - - - no_errors BHLHE40-AS1 HGNC ENSG00000235831 32 4 11.11 34 0 0.00 BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4940570 4940570 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 4940570 4940570 C A SNP BHLHE40-AS1 ENST00000438479 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors BHLHE40-AS1 HGNC ENSG00000235831 19 4 17.39 24 0 0.00 BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4942300 4942300 + RNA SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 4942300 4942300 T G SNP BHLHE40-AS1 ENST00000420832 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BHLHE40-AS1 HGNC ENSG00000235831 4 25 37.88 28 0 0.00 BHMT 635 genome.wustl.edu 37 5 78416249 78416249 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 78416249 78416249 G A SNP BHMT ENST00000274353 human ensembl 70_37 +1 known missense c.362 p.G121E 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 30 20 40.00 52 0 0.00 BICC1 80114 genome.wustl.edu 37 10 60566844 60566844 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 60566844 60566844 C T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2302 p.P768S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 41 81 65.85 31 0 0.00 BICC1 80114 genome.wustl.edu 37 10 60566844 60566844 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 60566844 60566844 C T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2302 p.P768S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 46 127 72.99 73 0 0.00 BICC1 80114 genome.wustl.edu 37 10 60573642 60573642 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 60573642 60573642 G T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2429 p.G810V 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 24 20 45.45 100 0 0.00 BICD1 636 genome.wustl.edu 37 12 32481347 32481347 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 32481347 32481347 G C SNP BICD1 ENST00000281474 human ensembl 70_37 +1 known missense c.1958 p.R653T 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like - no_errors BICD1 HGNC ENSG00000151746 21 12 36.36 33 0 0.00 BICD1 636 genome.wustl.edu 37 12 32520654 32520654 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 32520654 32520654 G A SNP BICD1 ENST00000281474 human ensembl 70_37 +1 known missense c.2815 p.G939R 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like - no_errors BICD1 HGNC ENSG00000151746 26 24 48.00 41 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95477597 95477597 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 95477597 95477597 G C SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2407 p.H803D 1.000 NULL pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 41 11 21.15 100 1 0.99 BICD2 23299 genome.wustl.edu 37 9 95477650 95477650 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95477650 95477650 G A SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2354 p.A785V 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 54 12 18.18 61 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95480097 95480097 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 95480097 95480097 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.2240 p.R747H 0.998 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 62 8 11.43 100 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95481438 95481438 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 95481438 95481438 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.1489 p.E497K 0.999 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 35 11 23.91 75 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95481579 95481579 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95481579 95481579 G A SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.1348 p.R450C 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 52 11 17.46 69 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95481751 95481751 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95481751 95481751 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known silent c.1176 p.E392 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 31 9 21.43 55 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95484983 95484983 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95484983 95484983 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known silent c.561 p.E187 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 47 15 23.81 66 0 0.00 BICD2 23299 genome.wustl.edu 37 9 95484988 95484988 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95484988 95484988 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.556 p.E186K 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 50 16 24.24 71 0 0.00 BID 637 genome.wustl.edu 37 22 18222870 18222870 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 18222870 18222870 C T SNP BID ENST00000342111 human ensembl 70_37 -1 known missense c.296 p.G99D 0.016 NULL pfam_BID - no_errors BID HGNC ENSG00000015475 13 3 18.75 24 0 0.00 BIK 638 genome.wustl.edu 37 22 43525228 43525228 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 43525228 43525228 G A SNP BIK ENST00000216115 human ensembl 70_37 +1 known missense c.400 p.E134K 0.000 pfam_Bcl2-int_killer pfam_Bcl2-int_killer - no_errors BIK HGNC ENSG00000100290 91 27 22.88 142 1 0.70 BIN1 274 genome.wustl.edu 37 2 127809887 127809887 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 127809887 127809887 C G SNP BIN1 ENST00000316724 human ensembl 70_37 -1 known missense c.1315 p.E439Q 0.969 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 23 8 25.81 14 0 0.00 BIN1 274 genome.wustl.edu 37 2 127827588 127827588 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 127827588 127827588 G A SNP BIN1 ENST00000316724 human ensembl 70_37 -1 known nonsense c.394 p.Q132* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 45 8 15.09 56 0 0.00 BIN2 51411 genome.wustl.edu 37 12 51685700 51685700 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 51685700 51685700 C G SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known missense c.1190 p.G397A 0.900 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 87 58 40.00 115 0 0.00 BIN2 51411 genome.wustl.edu 37 12 51686023 51686023 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 51686023 51686023 C T SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.867 p.E289 0.059 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 29 9 23.68 57 0 0.00 BIN2 51411 genome.wustl.edu 37 12 51686077 51686077 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 51686077 51686077 G A SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.813 p.V271 0.001 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 46 28 37.84 108 1 0.92 BIN2 51411 genome.wustl.edu 37 12 51686077 51686077 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 51686077 51686077 G A SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.813 p.V271 0.001 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 71 8 10.13 79 0 0.00 BIN2 51411 genome.wustl.edu 37 12 51690891 51690891 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 51690891 51690891 G C SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known missense c.660 p.F220L 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 41 10 19.61 60 0 0.00 BIN3 55909 genome.wustl.edu 37 8 22478789 22478789 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 22478789 22478789 C T SNP BIN3 ENST00000519335 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BIN3 HGNC ENSG00000147439 18 8 30.77 15 0 0.00 BIN3 55909 genome.wustl.edu 37 8 22478839 22478839 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 22478839 22478839 C G SNP BIN3 ENST00000519335 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BIN3 HGNC ENSG00000147439 11 8 42.11 16 0 0.00 BIN3 55909 genome.wustl.edu 37 8 22478974 22478974 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 22478974 22478974 G A SNP BIN3 ENST00000276416 human ensembl 70_37 -1 known silent c.723 p.L241 1.000 NULL pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 48 46 48.94 69 0 0.00 BIN3 55909 genome.wustl.edu 37 8 22494060 22494060 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 22494060 22494060 C T SNP BIN3 ENST00000276416 human ensembl 70_37 -1 known silent c.138 p.K46 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 20 11 35.48 32 0 0.00 BIRC2 329 genome.wustl.edu 37 11 102220627 102220627 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102220627 102220627 G A SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known silent c.42 p.S14 0.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 18 8 30.77 29 0 0.00 BIRC2 329 genome.wustl.edu 37 11 102220740 102220740 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 102220740 102220740 C T SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known missense c.155 p.T52I 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 21 22 51.16 55 0 0.00 BIRC2 329 genome.wustl.edu 37 11 102248819 102248819 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 102248819 102248819 C G SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known missense c.1762 p.H588D 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 55 8 12.70 64 0 0.00 BIRC3 330 genome.wustl.edu 37 11 102195673 102195673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 102195673 102195673 C G SNP BIRC3 ENST00000263464 human ensembl 70_37 +1 known missense c.433 p.P145A 0.207 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 14 15 51.72 25 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32605237 32605237 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 32605237 32605237 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.524 p.S175L 1.000 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 22 10 31.25 17 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32605301 32605301 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 32605301 32605301 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.588 p.L196 0.995 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 16 13 44.83 20 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32640932 32640932 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 32640932 32640932 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.2573 p.S858L 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 46 20 30.30 70 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32666475 32666475 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 32666475 32666475 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.3889 p.Q1297E 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 32 4 11.11 57 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32678919 32678919 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 32678919 32678919 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.4662 p.F1554 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 30 5 14.29 50 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32693008 32693008 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 32693008 32693008 G A SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.5609 p.R1870K 1.000 superfamily_Galactose-bd-like pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 6 12 66.67 20 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32694554 32694554 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32694554 32694554 G T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.6219 p.K2073N 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 47 28 37.33 112 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32716581 32716581 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 32716581 32716581 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.8296 p.L2766F 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 44 5 10.20 33 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32740651 32740651 + Missense_Mutation SNP C C G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 2 32740651 32740651 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.11163 p.H3721Q 0.999 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 30 13 30.23 55 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32743990 32743990 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 32743990 32743990 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.11600 p.S3867L 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 46 10 17.86 49 0 0.00 BIRC6 57448 genome.wustl.edu 37 2 32772925 32772925 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 32772925 32772925 G T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.12819 p.V4273 0.984 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 41 18 30.51 86 0 0.00 BIRC8 112401 genome.wustl.edu 37 19 53793036 53793036 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53793036 53793036 C T SNP BIRC8 ENST00000426466 human ensembl 70_37 -1 known missense c.592 p.A198T 0.003 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 19 5 20.83 25 0 0.00 BIRC8 112401 genome.wustl.edu 37 19 53793351 53793351 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 53793351 53793351 G T SNP BIRC8 ENST00000426466 human ensembl 70_37 -1 known missense c.277 p.Q93K 0.002 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 126 23 15.44 130 0 0.00 BIVM 54841 genome.wustl.edu 37 13 103460047 103460047 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 103460047 103460047 G C SNP BIVM ENST00000257336 human ensembl 70_37 +1 known missense c.430 p.D144H 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 10 7 41.18 17 0 0.00 BIVM 54841 genome.wustl.edu 37 13 103468786 103468786 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 103468786 103468786 A G SNP BIVM ENST00000257336 human ensembl 70_37 +1 known missense c.487 p.K163E 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 73 13 15.12 64 0 0.00 BLID 414899 genome.wustl.edu 37 11 121986323 121986323 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121986323 121986323 G A SNP BLID ENST00000560104 human ensembl 70_37 -1 known missense c.308 p.S103F 0.594 NULL NULL - no_errors BLID HGNC ENSG00000259571 40 8 16.67 48 0 0.00 BLM 641 genome.wustl.edu 37 15 91295145 91295146 + Frame_Shift_Ins INS - - G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91295145 91295146 - G INS BLM ENST00000355112 human ensembl 70_37 +1 known frame_shift_ins c.928_929 p.S310fs 0.060:0.064 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 52 16 23.53 17 0 0.00 BLM 641 genome.wustl.edu 37 15 91295146 91295146 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91295146 91295146 C G SNP BLM ENST00000355112 human ensembl 70_37 +1 known missense c.929 p.S310C 0.064 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 49 18 26.87 17 0 0.00 BLM 641 genome.wustl.edu 37 15 91304065 91304065 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 91304065 91304065 G C SNP BLM ENST00000355112 human ensembl 70_37 +1 known missense c.1462 p.E488Q 0.947 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 146 43 22.75 196 0 0.00 BLMH 642 genome.wustl.edu 37 17 28601165 28601165 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 28601165 28601165 G A SNP BLMH ENST00000261714 human ensembl 70_37 -1 known silent c.696 p.T232 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 84 21 20.00 129 0 0.00 BLMH 642 genome.wustl.edu 37 17 28614948 28614948 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 28614948 28614948 G A SNP BLMH ENST00000261714 human ensembl 70_37 -1 known silent c.339 p.F113 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 20 16 44.44 32 0 0.00 BLNK 29760 genome.wustl.edu 37 10 97956751 97956751 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97956751 97956751 G T SNP BLNK ENST00000224337 human ensembl 70_37 -1 known missense c.1164 p.F388L 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 25 15 37.50 54 0 0.00 BLNK 29760 genome.wustl.edu 37 10 97959869 97959869 + Silent SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 97959869 97959869 G T SNP BLNK ENST00000224337 human ensembl 70_37 -1 known silent c.1057 p.R353 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 33 4 10.81 42 0 0.00 BLNK 29760 genome.wustl.edu 37 10 97983584 97983584 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97983584 97983584 C G SNP BLNK ENST00000224337 human ensembl 70_37 -1 known missense c.523 p.E175Q 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 32 28 46.67 62 0 0.00 BLOC1S3 388552 genome.wustl.edu 37 19 45684652 45684652 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 45684652 45684652 C T SNP BLOC1S3 ENST00000588362 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors BLOC1S3 HGNC ENSG00000189114 58 13 18.31 34 0 0.00 BLOC1S5 63915 genome.wustl.edu 37 6 8015405 8015406 + RNA INS - - TT TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 6 8015405 8015406 - TT INS BLOC1S5 ENST00000475998 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.000 - - - no_errors BLOC1S5 HGNC ENSG00000188428 21 4 16.00 16 0 0.00 BLOC1S6 26258 genome.wustl.edu 37 15 45879568 45879568 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 45879568 45879568 G A SNP BLOC1S6 ENST00000567740 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors BLOC1S6 HGNC ENSG00000104164 174 45 20.55 128 0 0.00 BLVRA 644 genome.wustl.edu 37 7 43843292 43843292 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 43843292 43843292 G C SNP BLVRA ENST00000265523 human ensembl 70_37 +1 known missense c.478 p.E160Q 1.000 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 87 63 42.00 101 0 0.00 BMI1 648 genome.wustl.edu 37 10 22616899 22616899 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 22616899 22616899 G C SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.337 p.D113H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 29 6 17.14 39 0 0.00 BMI1 648 genome.wustl.edu 37 10 22618232 22618232 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22618232 22618232 G A SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.742 p.E248K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 97 17 14.91 109 0 0.00 BMI1 648 genome.wustl.edu 37 10 22618337 22618337 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 22618337 22618337 C T SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.847 p.H283Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 25 24 48.98 70 0 0.00 BMI1 648 genome.wustl.edu 37 10 22618360 22618360 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 22618360 22618360 C T SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known silent c.870 p.S290 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 87 19 17.92 80 0 0.00 BMP1 649 genome.wustl.edu 37 8 22056742 22056742 + Missense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 8 22056742 22056742 C A SNP BMP1 ENST00000397816 human ensembl 70_37 +1 known missense c.2315 p.P772H 0.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 31 4 11.43 55 0 0.00 BMP1 649 genome.wustl.edu 37 8 22056829 22056829 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 22056829 22056829 G C SNP BMP1 ENST00000397816 human ensembl 70_37 +1 known missense c.2402 p.R801T 1.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 90 21 18.92 157 0 0.00 BMP1 649 genome.wustl.edu 37 8 22064467 22064467 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22064467 22064467 C A SNP BMP1 ENST00000306385 human ensembl 70_37 +1 known silent c.2334 p.S778 0.978 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 52 20 27.78 77 0 0.00 BMP10 27302 genome.wustl.edu 37 2 69093120 69093120 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 69093120 69093120 G A SNP BMP10 ENST00000295379 human ensembl 70_37 -1 known silent c.918 p.I306 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 47 36 43.37 65 0 0.00 BMP15 9210 genome.wustl.edu 37 X 50653862 50653862 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 50653862 50653862 G C SNP BMP15 ENST00000252677 human ensembl 70_37 +1 known missense c.79 p.E27Q 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 42 32 43.24 66 0 0.00 BMP15 9210 genome.wustl.edu 37 X 50659449 50659449 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 50659449 50659449 C G SNP BMP15 ENST00000252677 human ensembl 70_37 +1 known missense c.1021 p.Q341E 0.999 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 112 21 15.67 81 0 0.00 BMP2K 55589 genome.wustl.edu 37 4 79772146 79772146 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79772146 79772146 C T SNP BMP2K ENST00000335016 human ensembl 70_37 +1 known silent c.819 p.I273 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 43 43 50.00 69 0 0.00 BMP2K 55589 genome.wustl.edu 37 4 79782564 79782564 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 79782564 79782564 C G SNP BMP2K ENST00000335016 human ensembl 70_37 +1 known missense c.1009 p.L337V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 5 3 37.50 39 0 0.00 BMP3 651 genome.wustl.edu 37 4 81952680 81952680 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 81952680 81952680 G T SNP BMP3 ENST00000282701 human ensembl 70_37 +1 known missense c.242 p.G81V 0.003 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 41 12 22.64 57 0 0.00 BMP4 652 genome.wustl.edu 37 14 54417513 54417513 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 54417513 54417513 G C SNP BMP4 ENST00000245451 human ensembl 70_37 -1 known missense c.464 p.S155C 0.996 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 15 9 37.50 28 0 0.00 BMP4 652 genome.wustl.edu 37 14 54418628 54418628 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 54418628 54418628 C G SNP BMP4 ENST00000245451 human ensembl 70_37 -1 known missense c.313 p.E105Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 35 10 22.22 35 0 0.00 BMP5 653 genome.wustl.edu 37 6 55625297 55625297 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 55625297 55625297 C T SNP BMP5 ENST00000370830 human ensembl 70_37 -1 known silent c.1062 p.K354 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 110 23 17.29 136 0 0.00 BMP5 653 genome.wustl.edu 37 6 55739287 55739287 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 55739287 55739287 C T SNP BMP5 ENST00000370830 human ensembl 70_37 -1 known missense c.377 p.R126H 0.078 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 43 19 30.65 73 0 0.00 BMP6 654 genome.wustl.edu 37 6 7727734 7727734 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 7727734 7727734 C G SNP BMP6 ENST00000283147 human ensembl 70_37 +1 known silent c.546 p.L182 0.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 23 9 28.12 47 0 0.00 BMP6 654 genome.wustl.edu 37 6 7861760 7861760 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 7861760 7861760 G A SNP BMP6 ENST00000283147 human ensembl 70_37 +1 known missense c.934 p.A312T 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 55 18 24.66 112 1 0.88 BMP8A 353500 genome.wustl.edu 37 1 39988084 39988084 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 39988084 39988084 G A SNP BMP8A ENST00000331593 human ensembl 70_37 +1 known missense c.878 p.R293H 0.490 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8A HGNC ENSG00000183682 24 5 17.24 20 0 0.00 BMPER 168667 genome.wustl.edu 37 7 33946488 33946488 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 33946488 33946488 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known silent c.192 p.D64 1.000 smart_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 94 16 14.55 135 0 0.00 BMPER 168667 genome.wustl.edu 37 7 34118526 34118526 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 34118526 34118526 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known missense c.1136 p.T379I 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 45 8 15.09 66 0 0.00 BMPER 168667 genome.wustl.edu 37 7 34125571 34125571 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 34125571 34125571 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known nonsense c.1612 p.Q538* 0.958 NULL pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 61 14 18.67 58 0 0.00 BMPR1A 657 genome.wustl.edu 37 10 88677071 88677071 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 88677071 88677071 G A SNP BMPR1A ENST00000224764 human ensembl 70_37 +1 known missense c.856 p.E286K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR1A HGNC ENSG00000107779 40 28 41.18 55 0 0.00 BMPR1B 658 genome.wustl.edu 37 4 96070069 96070069 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 96070069 96070069 C G SNP BMPR1B ENST00000440890 human ensembl 70_37 +1 known nonsense c.1337 p.S446* 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors BMPR1B HGNC ENSG00000138696 150 45 23.08 214 0 0.00 BMPR1B 658 genome.wustl.edu 37 4 96073848 96073848 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 96073848 96073848 C G SNP BMPR1B ENST00000440890 human ensembl 70_37 +1 known missense c.1397 p.S466C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors BMPR1B HGNC ENSG00000138696 36 17 32.08 74 0 0.00 BMPR2 659 genome.wustl.edu 37 2 203242268 203242268 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 203242268 203242268 C A SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.71 p.A24E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 5 9 64.29 39 0 0.00 BMPR2 659 genome.wustl.edu 37 2 203395559 203395559 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 203395559 203395559 G T SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.1010 p.R337I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 13 32 71.11 64 0 0.00 BMPR2 659 genome.wustl.edu 37 2 203395585 203395585 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 203395585 203395585 A G SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.1036 p.T346A 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 13 14 51.85 70 0 0.00 BMPR2 659 genome.wustl.edu 37 2 203407068 203407068 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 203407068 203407068 G A SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known silent c.1311 p.Q437 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 83 35 29.66 142 0 0.00 BMS1 9790 genome.wustl.edu 37 10 43294068 43294068 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 43294068 43294068 G C SNP BMS1 ENST00000374518 human ensembl 70_37 +1 known missense c.2242 p.E748Q 1.000 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 33 25 43.10 51 0 0.00 BMS1P4 729096 genome.wustl.edu 37 10 75481142 75481142 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 75481142 75481142 G A SNP BMS1P4 ENST00000399449 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 241 141 36.91 488 0 0.00 BMX 660 genome.wustl.edu 37 X 15552383 15552383 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 15552383 15552383 G C SNP BMX ENST00000342014 human ensembl 70_37 +1 known missense c.1068 p.E356D 0.999 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 71 31 30.39 125 0 0.00 BMX 660 genome.wustl.edu 37 X 15555355 15555355 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 15555355 15555355 G A SNP BMX ENST00000342014 human ensembl 70_37 +1 known missense c.1321 p.D441N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 27 18 40.00 45 0 0.00 BNC2 54796 genome.wustl.edu 37 9 16436226 16436226 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 16436226 16436226 C T SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1966 p.E656K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 32 44 57.89 59 0 0.00 BNC2 54796 genome.wustl.edu 37 9 16436783 16436783 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 16436783 16436783 C G SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1409 p.R470P 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 60 33 35.48 95 0 0.00 BNC2 54796 genome.wustl.edu 37 9 16436817 16436817 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 16436817 16436817 G A SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1375 p.H459Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 44 6 12.00 78 0 0.00 BNC2 54796 genome.wustl.edu 37 9 16552656 16552656 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 16552656 16552656 C T SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.541 p.A181T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 28 17 37.78 73 0 0.00 BNC2 54796 genome.wustl.edu 37 9 16727949 16727952 + Frame_Shift_Del DEL TCTC TCTC - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 16727949 16727952 TCTC - DEL BNC2 ENST00000380672 human ensembl 70_37 -1 known frame_shift_del c.176_173 p.R58fs 1.000:1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 68 15 18.07 81 0 0.00 BNIP2 663 genome.wustl.edu 37 15 59955924 59955924 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59955924 59955924 C G SNP BNIP2 ENST00000478981 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BNIP2 HGNC ENSG00000140299 49 19 27.94 52 0 0.00 BNIP2 663 genome.wustl.edu 37 15 59970209 59970209 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 59970209 59970209 C G SNP BNIP2 ENST00000267859 human ensembl 70_37 -1 known missense c.736 p.E246Q 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 45 6 11.76 58 0 0.00 BNIP3 664 genome.wustl.edu 37 10 133784238 133784238 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 133784238 133784238 G C SNP BNIP3 ENST00000368636 human ensembl 70_37 -1 known missense c.443 p.T148R 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 39 42 51.22 62 0 0.00 BNIP3P1 319138 genome.wustl.edu 37 14 28733828 28733828 + RNA SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 28733828 28733828 T C SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors BNIP3P1 HGNC ENSG00000197358 19 10 34.48 50 0 0.00 BNIP3P1 319138 genome.wustl.edu 37 14 28733920 28733920 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 28733920 28733920 C T SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors BNIP3P1 HGNC ENSG00000197358 56 14 20.00 82 0 0.00 BNIP3P1 319138 genome.wustl.edu 37 14 28734085 28734085 + RNA SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 28734085 28734085 T A SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BNIP3P1 HGNC ENSG00000197358 43 9 17.31 89 0 0.00 BNIP3P1 319138 genome.wustl.edu 37 14 28734086 28734086 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 28734086 28734086 C T SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors BNIP3P1 HGNC ENSG00000197358 43 9 17.31 90 0 0.00 BOC 91653 genome.wustl.edu 37 3 112992158 112992158 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 112992158 112992158 G T SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.1204 p.A402S 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC ENSG00000144857 30 4 11.76 21 0 0.00 BOC 91653 genome.wustl.edu 37 3 112993432 112993432 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 112993432 112993432 G A SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.1445 p.R482H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC ENSG00000144857 42 12 22.22 21 0 0.00 BOC 91653 genome.wustl.edu 37 3 113002407 113002407 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113002407 113002407 G A SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.2584 p.V862I 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC ENSG00000144857 49 12 19.67 67 0 0.00 BOD1 91272 genome.wustl.edu 37 5 173035296 173035296 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 173035296 173035296 C T SNP BOD1 ENST00000311086 human ensembl 70_37 -1 known splice_site c.558-1 e4-1 0.841 - - - no_errors BOD1 HGNC ENSG00000145919 20 6 23.08 30 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13583866 13583866 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 13583866 13583866 G A SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known nonsense c.8587 p.Q2863* 0.995 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 8 14 63.64 28 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13600774 13600774 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 13600774 13600774 T C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.7750 p.M2584V 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 31 30 49.18 27 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13600774 13600774 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 13600774 13600774 T C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.7750 p.M2584V 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 61 35 36.08 89 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13601904 13601904 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 13601904 13601904 G C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known nonsense c.6620 p.S2207* 0.829 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 4 17 80.95 36 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13602587 13602587 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 13602587 13602587 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.5937 p.M1979I 0.865 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 57 32 35.96 141 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13602970 13602970 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 13602970 13602970 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.5554 p.E1852K 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 39 14 26.42 31 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13603720 13603720 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 13603720 13603720 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.4804 p.E1602K 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 17 11 39.29 27 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13603815 13603815 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 13603815 13603815 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.4709 p.R1570K 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 20 12 37.50 40 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13606335 13606335 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 13606335 13606335 C G SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2189 p.R730T 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 95 36 27.48 133 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13606480 13606480 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 13606480 13606480 G A SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2044 p.R682C 0.295 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 19 8 29.63 46 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13606503 13606503 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 13606503 13606503 C G SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2021 p.R674T 0.026 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 22 12 35.29 55 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13606553 13606553 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 13606553 13606553 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known silent c.1971 p.R657 0.962 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 216 73 25.26 324 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13610966 13610966 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 13610966 13610966 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.1556 p.R519Q 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 34 6 15.00 84 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13612555 13612556 + Splice_Site INS - - A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 4 13612555 13612556 - A INS BOD1L1 ENST00000040738 human ensembl 70_37 -1 known splice_site_ins c.1491+2_1491+1 e6+2 1.000:1.000 - - - no_errors BOD1L1 HGNC ENSG00000038219 38 7 15.56 59 0 0.00 BOD1L1 259282 genome.wustl.edu 37 4 13616125 13616125 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 13616125 13616125 A C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.869 p.I290S 0.031 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 32 5 13.51 47 0 0.00 BOLL 66037 genome.wustl.edu 37 2 198621173 198621173 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 198621173 198621173 C T SNP BOLL ENST00000321801 human ensembl 70_37 -1 known silent c.744 p.L248 0.997 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 5 30 85.71 17 0 0.00 BOLL 66037 genome.wustl.edu 37 2 198621238 198621238 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 198621238 198621238 C T SNP BOLL ENST00000321801 human ensembl 70_37 -1 known missense c.679 p.E227K 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 22 6 21.43 46 0 0.00 BORA 79866 genome.wustl.edu 37 13 73312182 73312182 + Splice_Site SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 13 73312182 73312182 G T SNP BORA ENST00000390667 human ensembl 70_37 +1 known splice_site c.388+1 e4+1 1.000 - - - no_errors BORA HGNC ENSG00000136122 23 4 14.81 30 0 0.00 BORA 79866 genome.wustl.edu 37 13 73318687 73318687 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 73318687 73318687 G C SNP BORA ENST00000390667 human ensembl 70_37 +1 known missense c.499 p.E167Q 1.000 prints_Aurora_borealis_protien prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 70 20 21.98 98 0 0.00 BORA 79866 genome.wustl.edu 37 13 73319333 73319333 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73319333 73319333 G A SNP BORA ENST00000390667 human ensembl 70_37 +1 known silent c.726 p.Q242 0.998 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 38 6 13.64 19 0 0.00 BORA 79866 genome.wustl.edu 37 13 73320995 73320995 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 13 73320995 73320995 C T SNP BORA ENST00000390667 human ensembl 70_37 +1 known nonsense c.1228 p.Q410* 0.072 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 21 15 41.67 72 0 0.00 BPI 671 genome.wustl.edu 37 20 36938980 36938980 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 36938980 36938980 G T SNP BPI ENST00000262865 human ensembl 70_37 +1 known missense c.474 p.K158N 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 34 18 33.33 53 0 0.00 BPI 671 genome.wustl.edu 37 20 36948573 36948573 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 36948573 36948573 C G SNP BPI ENST00000489039 human ensembl 70_37 +1 known rna NULL NULL 0.178 - - - no_errors BPI HGNC ENSG00000101425 39 33 45.83 62 0 0.00 BPIFA1 51297 genome.wustl.edu 37 20 31825677 31825677 + Missense_Mutation SNP G G T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 20 31825677 31825677 G T SNP BPIFA1 ENST00000354297 human ensembl 70_37 +1 known missense c.160 p.A54S 0.909 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 34 4 10.53 36 0 0.00 BPIFA3 128861 genome.wustl.edu 37 20 31814183 31814183 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31814183 31814183 C T SNP BPIFA3 ENST00000490499 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA3 HGNC ENSG00000131059 17 16 48.48 26 0 0.00 BPIFA4P 317716 genome.wustl.edu 37 20 31789380 31789380 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 31789380 31789380 G C SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 87 20 18.69 68 0 0.00 BPIFA4P 317716 genome.wustl.edu 37 20 31789380 31789380 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 31789380 31789380 G C SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 34 27 44.26 52 0 0.00 BPIFA4P 317716 genome.wustl.edu 37 20 31789434 31789434 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 31789434 31789434 G C SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 43 24 35.82 73 0 0.00 BPIFB1 92747 genome.wustl.edu 37 20 31895716 31895717 + RNA INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 20 31895716 31895717 - C INS BPIFB1 ENST00000464032 human ensembl 70_37 +1 known rna NULL NULL 0.011:0.009 - - - no_errors BPIFB1 HGNC ENSG00000125999 24 4 14.29 22 0 0.00 BPIFB2 80341 genome.wustl.edu 37 20 31608159 31608159 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31608159 31608159 C G SNP BPIFB2 ENST00000170150 human ensembl 70_37 +1 known missense c.1106 p.S369C 0.959 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 39 14 26.42 49 0 0.00 BPIFB2 80341 genome.wustl.edu 37 20 31609533 31609533 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 31609533 31609533 C G SNP BPIFB2 ENST00000170150 human ensembl 70_37 +1 known silent c.1263 p.L421 0.998 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 54 40 42.11 92 0 0.00 BPIFB3 359710 genome.wustl.edu 37 20 31656683 31656683 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 31656683 31656683 C G SNP BPIFB3 ENST00000375494 human ensembl 70_37 +1 known silent c.1053 p.L351 0.353 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 30 4 11.76 31 0 0.00 BPIFB3 359710 genome.wustl.edu 37 20 31656710 31656710 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 31656710 31656710 C T SNP BPIFB3 ENST00000375494 human ensembl 70_37 +1 known silent c.1080 p.L360 0.889 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 45 5 10.00 32 0 0.00 BPIFB4 149954 genome.wustl.edu 37 20 31673928 31673928 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 20 31673928 31673928 G C SNP BPIFB4 ENST00000375483 human ensembl 70_37 +1 known missense c.884 p.C295S 0.998 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 125 26 17.11 111 0 0.00 BPIFB4 149954 genome.wustl.edu 37 20 31680335 31680335 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 31680335 31680335 G A SNP BPIFB4 ENST00000375483 human ensembl 70_37 +1 known silent c.1215 p.P405 0.790 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 43 11 20.37 36 0 0.00 BPIFB4 149954 genome.wustl.edu 37 20 31695549 31695549 + Splice_Site SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 20 31695549 31695549 G A SNP BPIFB4 ENST00000375483 human ensembl 70_37 +1 known splice_site c.1745-1 e15-1 0.999 - - - no_errors BPIFB4 HGNC ENSG00000186191 58 9 13.43 64 0 0.00 BPIFB6 128859 genome.wustl.edu 37 20 31622596 31622596 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 31622596 31622596 C T SNP BPIFB6 ENST00000349552 human ensembl 70_37 +1 known silent c.330 p.I110 0.392 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 6 4 40.00 8 0 0.00 BPIFC 254240 genome.wustl.edu 37 22 32828450 32828450 + Silent SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 32828450 32828450 T A SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known silent c.1059 p.P353 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 64 61 48.80 111 0 0.00 BPIFC 254240 genome.wustl.edu 37 22 32843292 32843292 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 32843292 32843292 G A SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known missense c.281 p.S94L 0.958 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 43 6 12.24 38 0 0.00 BPIFC 254240 genome.wustl.edu 37 22 32853304 32853304 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 22 32853304 32853304 G C SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known missense c.70 p.Q24E 0.012 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 42 28 40.00 73 0 0.00 BPIFC 254240 genome.wustl.edu 37 22 32853350 32853350 + Silent SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 22 32853350 32853350 G T SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known silent c.24 p.V8 0.048 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 57 31 35.23 56 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65822382 65822382 + Missense_Mutation SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 65822382 65822382 A G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.542 p.D181G 0.999 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 23 6 20.69 36 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65850325 65850325 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 65850325 65850325 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.883 p.L295V 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 46 28 37.84 49 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65888007 65888007 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 65888007 65888007 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.2290 p.P764A 0.722 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 37 15 28.85 64 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65888035 65888035 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 65888035 65888035 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known nonsense c.2318 p.S773* 0.999 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 25 10 28.57 32 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65889808 65889808 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 65889808 65889808 C T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.2756 p.S919L 0.997 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 27 5 15.62 29 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65907170 65907170 + Nonsense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 65907170 65907170 C A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known nonsense c.3548 p.S1183* 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 26 17 39.53 32 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65907505 65907505 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 65907505 65907505 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.3883 p.D1295N 0.232 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 34 5 12.82 36 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65907913 65907913 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 65907913 65907913 G T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.4291 p.D1431Y 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 14 3 17.65 33 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65908690 65908690 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 65908690 65908690 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5068 p.E1690K 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 26 8 23.53 24 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65908943 65908943 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 65908943 65908943 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5321 p.S1774C 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 33 4 10.81 53 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65914901 65914901 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 65914901 65914901 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5753 p.R1918K 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 47 37 44.05 32 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65914901 65914901 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 65914901 65914901 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5753 p.R1918K 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 90 50 35.71 127 0 0.00 BPTF 2186 genome.wustl.edu 37 17 65941593 65941593 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 65941593 65941593 C T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.7147 p.P2383S 0.998 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 34 9 20.93 52 0 0.00 BRAF 673 genome.wustl.edu 37 7 140477862 140477862 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 140477862 140477862 C T SNP BRAF ENST00000288602 human ensembl 70_37 -1 known silent c.1446 p.V482 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 53 23 30.26 77 0 0.00 BRAF 673 genome.wustl.edu 37 7 140482933 140482933 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 7 140482933 140482933 G A SNP BRAF ENST00000288602 human ensembl 70_37 -1 known missense c.1202 p.T401I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 34 23 40.35 43 0 0.00 BRAF 673 genome.wustl.edu 37 7 140550007 140550007 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 140550007 140550007 C T SNP BRAF ENST00000288602 human ensembl 70_37 -1 known nonsense c.144 p.W48* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 51 20 27.78 63 0 0.00 BRAP 8315 genome.wustl.edu 37 12 112103478 112103478 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112103478 112103478 G T SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.861 p.F287L 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 64 22 25.29 144 0 0.00 BRAP 8315 genome.wustl.edu 37 12 112103588 112103588 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112103588 112103588 C T SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.751 p.A251T 1.000 pfam_BRAP2 pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 58 15 20.55 88 0 0.00 BRAP 8315 genome.wustl.edu 37 12 112119469 112119469 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112119469 112119469 G C SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.415 p.H139D 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 26 10 27.78 62 0 0.00 BRAP 8315 genome.wustl.edu 37 12 112119640 112119640 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 112119640 112119640 C G SNP BRAP ENST00000419234 human ensembl 70_37 -1 known splice_site c.245-1 e3-1 1.000 - - - no_errors BRAP HGNC ENSG00000089234 66 13 16.46 86 0 0.00 BRAT1 221927 genome.wustl.edu 37 7 2579484 2579484 + Silent SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 2579484 2579484 G C SNP BRAT1 ENST00000340611 human ensembl 70_37 -1 known silent c.1434 p.L478 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 79 22 21.78 111 0 0.00 BRAT1 221927 genome.wustl.edu 37 7 2583486 2583486 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 2583486 2583486 C T SNP BRAT1 ENST00000340611 human ensembl 70_37 -1 known missense c.541 p.E181K 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 53 21 28.38 87 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41209115 41209115 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 41209115 41209115 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.5294 p.R1765K 1.000 pirsf_BRCA1,superfamily_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 80 18 18.37 94 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41215378 41215378 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 41215378 41215378 G A SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.5228 p.S1743F 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 64 14 17.72 71 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41219655 41219655 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 41219655 41219655 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.5107 p.E1703K 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 55 7 11.29 44 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41223131 41223131 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 41223131 41223131 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known silent c.4863 p.L1621 0.918 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 32 11 25.58 59 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41226417 41226417 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41226417 41226417 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.4669 p.E1557K 0.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 91 16 14.95 107 0 0.00 BRCA1 672 genome.wustl.edu 37 17 41246005 41246005 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41246005 41246005 C G SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.1543 p.E515Q 1.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 48 16 25.00 65 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32912060 32912060 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 13 32912060 32912060 C T SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.3568 p.R1190W 0.293 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 97 11 10.19 152 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32912309 32912309 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 32912309 32912309 T C SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.3817 p.F1273L 0.022 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 4 3 42.86 12 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32914967 32914967 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32914967 32914967 C T SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known nonsense c.6475 p.Q2159* 0.190 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 9 10 52.63 53 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32937315 32937315 + Splice_Site SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 32937315 32937315 G A SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known splice_site c.7977-1 e17-1 1.000 - - - no_errors BRCA2 HGNC ENSG00000139618 20 11 35.48 42 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32937456 32937456 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 32937456 32937456 A G SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.8117 p.N2706S 0.027 pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 31 9 22.50 57 0 0.00 BRCA2 675 genome.wustl.edu 37 13 32972342 32972342 + Nonsense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 13 32972342 32972342 C A SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known nonsense c.9692 p.S3231* 0.338 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 22 11 33.33 34 0 0.00 BRCC3 79184 genome.wustl.edu 37 X 154305476 154305476 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 154305476 154305476 C T SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.227 p.S76F 0.999 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 89 28 23.93 145 0 0.00 BRCC3 79184 genome.wustl.edu 37 X 154306951 154306951 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 154306951 154306951 C T SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.376 p.H126Y 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 78 62 44.29 101 0 0.00 BRCC3 79184 genome.wustl.edu 37 X 154319066 154319066 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 154319066 154319066 G A SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.500 p.R167Q 1.000 smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 16 19 54.29 28 0 0.00 BRD1 23774 genome.wustl.edu 37 22 50191531 50191531 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 50191531 50191531 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.2020 p.G674S 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 18 41 69.49 46 0 0.00 BRD1 23774 genome.wustl.edu 37 22 50191531 50191531 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 50191531 50191531 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.2020 p.G674S 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 9 32 78.05 27 0 0.00 BRD1 23774 genome.wustl.edu 37 22 50217002 50217002 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 50217002 50217002 G A SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.964 p.R322W 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 59 25 29.76 140 0 0.00 BRD1 23774 genome.wustl.edu 37 22 50217320 50217320 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50217320 50217320 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.646 p.V216M 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 14 4 22.22 26 0 0.00 BRD2 6046 genome.wustl.edu 37 6 32942501 32942501 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 32942501 32942501 C T SNP BRD2 ENST00000395289 human ensembl 70_37 +1 known missense c.292 p.P98S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 40 23 36.51 67 0 0.00 BRD2 6046 genome.wustl.edu 37 6 32943932 32943932 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 32943932 32943932 G A SNP BRD2 ENST00000395289 human ensembl 70_37 +1 known missense c.596 p.G199E 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 111 42 27.45 130 0 0.00 BRD3 8019 genome.wustl.edu 37 9 136898586 136898586 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 136898586 136898586 C T SNP BRD3 ENST00000473349 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BRD3 HGNC ENSG00000169925 31 16 34.04 41 0 0.00 BRD3 8019 genome.wustl.edu 37 9 136901377 136901377 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 136901377 136901377 G T SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.1713 p.P571 0.996 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 25 4 13.79 36 0 0.00 BRD3 8019 genome.wustl.edu 37 9 136913301 136913301 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 9 136913301 136913301 G A SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.990 p.Y330 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 17 71 80.68 43 0 0.00 BRD3 8019 genome.wustl.edu 37 9 136916715 136916715 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136916715 136916715 A G SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.468 p.G156 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 10 3 23.08 37 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15349236 15349236 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15349236 15349236 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.4041 p.M1347I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 13 26 66.67 32 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15349885 15349885 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15349885 15349885 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.3767 p.R1256Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 25 11 30.56 48 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15349979 15349979 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15349979 15349979 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.3673 p.E1225K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 42 6 12.50 27 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15355409 15355409 + Missense_Mutation SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 15355409 15355409 G C SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.2214 p.H738Q 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 32 32 49.23 51 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15366981 15366982 + Frame_Shift_Ins INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15366981 15366982 - T INS BRD4 ENST00000263377 human ensembl 70_37 -1 known frame_shift_ins c.1645_1644 p.E548fs 0.998:0.979 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 115 36 23.84 123 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15366988 15366988 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15366988 15366988 C G SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.1638 p.K546N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 90 42 30.66 112 0 0.00 BRD4 23476 genome.wustl.edu 37 19 15379752 15379752 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 15379752 15379752 G T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.387 p.F129L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 70 37 34.58 127 0 0.00 BRD7 29117 genome.wustl.edu 37 16 50353805 50353805 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 50353805 50353805 C G SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known missense c.1896 p.L632F 0.996 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 51 11 17.74 59 0 0.00 BRD7 29117 genome.wustl.edu 37 16 50353864 50353864 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 50353864 50353864 G A SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known nonsense c.1837 p.R613* 1.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 20 11 35.48 39 0 0.00 BRD7 29117 genome.wustl.edu 37 16 50360205 50360205 + Missense_Mutation SNP T T G TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 50360205 50360205 T G SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known missense c.1185 p.K395N 0.999 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 38 17 30.91 47 0 0.00 BRD8 10902 genome.wustl.edu 37 5 137486436 137486436 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 137486436 137486436 C G SNP BRD8 ENST00000254900 human ensembl 70_37 -1 known missense c.3118 p.E1040Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 30 20 40.00 52 0 0.00 BRD8 10902 genome.wustl.edu 37 5 137501639 137501639 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 137501639 137501639 G C SNP BRD8 ENST00000254900 human ensembl 70_37 -1 known missense c.1156 p.P386A 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 12 2 14.29 58 0 0.00 BRD8 10902 genome.wustl.edu 37 5 137504212 137504212 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137504212 137504212 G C SNP BRD8 ENST00000230901 human ensembl 70_37 -1 known missense c.808 p.L270V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 17 14 45.16 47 0 0.00 BRD8 10902 genome.wustl.edu 37 5 137513280 137513280 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137513280 137513280 C A SNP BRD8 ENST00000455658 human ensembl 70_37 -1 known nonsense c.43 p.E15* 1.000 superfamily_Peptidase_M20_dimer pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 45 27 37.50 72 0 0.00 BRD9 65980 genome.wustl.edu 37 5 884088 884088 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 884088 884088 G A SNP BRD9 ENST00000467963 human ensembl 70_37 -1 known missense c.931 p.R311W 0.972 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 38 20 34.48 27 0 0.00 BRDT 676 genome.wustl.edu 37 1 92441964 92441964 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 92441964 92441964 C T SNP BRDT ENST00000362005 human ensembl 70_37 +1 known missense c.587 p.S196L 0.042 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 12 4 25.00 26 0 0.00 BRDT 676 genome.wustl.edu 37 1 92441988 92441988 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 92441988 92441988 C T SNP BRDT ENST00000362005 human ensembl 70_37 +1 known missense c.611 p.A204V 0.003 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 20 8 28.57 18 0 0.00 BRDT 676 genome.wustl.edu 37 1 92470029 92470029 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 92470029 92470029 C T SNP BRDT ENST00000362005 human ensembl 70_37 +1 known missense c.2447 p.S816L 0.981 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 49 18 26.87 50 0 0.00 BRE 9577 genome.wustl.edu 37 2 28117479 28117479 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 28117479 28117479 C G SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.56 p.S19C 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 95 18 15.93 70 0 0.00 BRE 9577 genome.wustl.edu 37 2 28117528 28117528 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 28117528 28117528 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.105 p.L35F 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 39 26 40.00 28 0 0.00 BRE 9577 genome.wustl.edu 37 2 28248247 28248247 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 28248247 28248247 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.455 p.G152A 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 28 7 20.00 42 0 0.00 BRE 9577 genome.wustl.edu 37 2 28521339 28521339 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 28521339 28521339 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.1069 p.E357Q 1.000 NULL pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 146 42 22.34 166 0 0.00 BRF1 2972 genome.wustl.edu 37 14 105684015 105684015 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 14 105684015 105684015 G A SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known silent c.1638 p.L546 0.126 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 17 18 51.43 49 0 0.00 BRF1 2972 genome.wustl.edu 37 14 105685528 105685528 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 105685528 105685528 C T SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known silent c.1419 p.L473 1.000 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 61 7 10.29 80 0 0.00 BRF1 2972 genome.wustl.edu 37 14 105693049 105693049 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105693049 105693049 C A SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known missense c.837 p.E279D 1.000 superfamily_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 12 4 25.00 19 0 0.00 BRF2 55290 genome.wustl.edu 37 8 37704661 37704661 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 37704661 37704661 G T SNP BRF2 ENST00000220659 human ensembl 70_37 -1 known missense c.247 p.L83M 0.999 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 18 18 48.65 60 0 0.00 BRI3 25798 genome.wustl.edu 37 7 97920828 97920828 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 97920828 97920828 C T SNP BRI3 ENST00000456357 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BRI3 HGNC ENSG00000164713 24 10 29.41 45 0 0.00 BRICD5 283870 genome.wustl.edu 37 16 2259503 2259503 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2259503 2259503 C G SNP BRICD5 ENST00000562360 human ensembl 70_37 -1 known missense c.643 p.E215Q 0.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 25 24 48.98 57 0 0.00 BRICD5 283870 genome.wustl.edu 37 16 2259701 2259701 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2259701 2259701 C T SNP BRICD5 ENST00000562360 human ensembl 70_37 -1 known missense c.445 p.E149K 0.002 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 94 40 29.85 113 0 0.00 BRIP1 83990 genome.wustl.edu 37 17 59760950 59760950 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 59760950 59760950 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3457 p.D1153H 0.056 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 31 20 39.22 35 0 0.00 BRIP1 83990 genome.wustl.edu 37 17 59760977 59760977 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 59760977 59760977 C T SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3430 p.E1144K 0.967 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 34 26 43.33 64 0 0.00 BRIP1 83990 genome.wustl.edu 37 17 59761153 59761153 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 59761153 59761153 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3254 p.R1085T 0.001 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 22 17 43.59 37 0 0.00 BRIP1 83990 genome.wustl.edu 37 17 59821859 59821859 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 59821859 59821859 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.2191 p.E731Q 1.000 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 46 8 14.81 42 0 0.00 BRIP1 83990 genome.wustl.edu 37 17 59934417 59934417 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59934417 59934417 A C SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known splice_site c.379+2 e3+2 1.000 - - - no_errors BRIP1 HGNC ENSG00000136492 31 18 36.73 68 0 0.00 BRIX1 55299 genome.wustl.edu 37 5 34919960 34919960 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 34919960 34919960 G A SNP BRIX1 ENST00000336767 human ensembl 70_37 +1 known missense c.287 p.R96H 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 17 9 34.62 33 0 0.00 BRIX1 55299 genome.wustl.edu 37 5 34925328 34925329 + Splice_Site INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 5 34925328 34925329 - A INS BRIX1 ENST00000336767 human ensembl 70_37 +1 known splice_site_ins c.793-3_793-2 e10-2 0.213:0.997 - - - no_errors BRIX1 HGNC ENSG00000113460 12 5 29.41 14 0 0.00 BRMS1 25855 genome.wustl.edu 37 11 66105270 66105270 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 66105270 66105270 T C SNP BRMS1 ENST00000425825 human ensembl 70_37 -1 known missense c.742 p.T248A 0.004 NULL pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 47 12 20.00 66 0 0.00 BRMS1 25855 genome.wustl.edu 37 11 66107661 66107661 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 66107661 66107661 C T SNP BRMS1 ENST00000425825 human ensembl 70_37 -1 known missense c.559 p.A187T 0.771 pfam_Sds3 pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 15 7 31.82 37 0 0.00 BRMS1 25855 genome.wustl.edu 37 11 66109569 66109569 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 66109569 66109569 G C SNP BRMS1 ENST00000425825 human ensembl 70_37 -1 known missense c.137 p.S46C 0.980 NULL pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 23 11 32.35 66 0 0.00 BROX 148362 genome.wustl.edu 37 1 222903491 222903491 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222903491 222903491 G C SNP BROX ENST00000340934 human ensembl 70_37 +1 known missense c.961 p.E321Q 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 14 3 17.65 14 0 0.00 BRPF1 7862 genome.wustl.edu 37 3 9775982 9775982 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 9775982 9775982 C A SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.158 p.P53Q 0.986 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 35 4 10.26 27 0 0.00 BRPF1 7862 genome.wustl.edu 37 3 9781517 9781517 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 9781517 9781517 G T SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.1434 p.W478C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 14 9 39.13 20 0 0.00 BRPF1 7862 genome.wustl.edu 37 3 9783090 9783090 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9783090 9783090 G C SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.1821 p.L607F 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 27 18 40.00 40 0 0.00 BRPF1 7862 genome.wustl.edu 37 3 9784651 9784651 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 9784651 9784651 C G SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.2025 p.I675M 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 58 25 30.12 62 0 0.00 BRPF1 7862 genome.wustl.edu 37 3 9784724 9784724 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 9784724 9784724 G A SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.2098 p.E700K 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 59 20 25.32 92 0 0.00 BRPF3 27154 genome.wustl.edu 37 6 36168129 36168129 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36168129 36168129 G A SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known silent c.30 p.Q10 0.994 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 41 10 19.61 43 0 0.00 BRPF3 27154 genome.wustl.edu 37 6 36168470 36168470 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 36168470 36168470 C G SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known nonsense c.371 p.S124* 0.269 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 126 35 21.47 198 0 0.00 BRPF3 27154 genome.wustl.edu 37 6 36172556 36172556 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 36172556 36172556 C A SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known missense c.1570 p.H524N 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 22 23 51.11 61 0 0.00 BRPF3 27154 genome.wustl.edu 37 6 36179145 36179145 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 36179145 36179145 C T SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known missense c.2290 p.R764C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 38 40 51.28 88 0 0.00 BRS3 680 genome.wustl.edu 37 X 135570306 135570306 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 135570306 135570306 G C SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known missense c.33 p.Q11H 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 73 13 14.94 84 0 0.00 BRS3 680 genome.wustl.edu 37 X 135574218 135574218 + Nonsense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 135574218 135574218 C G SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known nonsense c.884 p.S295* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 32 24 42.86 46 0 0.00 BRS3 680 genome.wustl.edu 37 X 135574302 135574302 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 135574302 135574302 C G SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known missense c.968 p.S323C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 37 24 38.71 36 0 0.00 BRS3 680 genome.wustl.edu 37 X 135574333 135574333 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 135574333 135574333 G C SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known silent c.999 p.L333 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 53 19 26.39 48 0 0.00 BRSK1 84446 genome.wustl.edu 37 19 55815948 55815948 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 55815948 55815948 G A SNP BRSK1 ENST00000590333 human ensembl 70_37 +1 known silent c.1425 p.P475 0.025 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors BRSK1 HGNC ENSG00000160469 31 4 11.43 43 0 0.00 BRSK2 9024 genome.wustl.edu 37 11 1459617 1459617 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1459617 1459617 T G SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.406 p.Y136D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 22 6 21.43 31 0 0.00 BRSK2 9024 genome.wustl.edu 37 11 1464590 1464590 + Missense_Mutation SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 1464590 1464590 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.728 p.A243E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 68 17 20.00 128 0 0.00 BRSK2 9024 genome.wustl.edu 37 11 1464750 1464750 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 1464750 1464750 G A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.803 p.R268Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 2 2 50.00 19 0 0.00 BRSK2 9024 genome.wustl.edu 37 11 1467069 1467069 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1467069 1467069 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known silent c.1296 p.L432 0.998 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 43 18 29.51 32 0 0.00 BRSK2 9024 genome.wustl.edu 37 11 1471062 1471062 + Missense_Mutation SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 1471062 1471062 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.1421 p.P474H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 5 31 86.11 50 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40568805 40568805 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 40568805 40568805 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.6190 p.E2064K 0.009 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 259 41 13.62 452 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40570860 40570860 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 40570860 40570860 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.5482 p.E1828K 0.999 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 31 4 11.43 38 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40570985 40570985 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 40570985 40570985 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.5357 p.S1786N 0.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 145 27 15.70 146 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40608645 40608645 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 40608645 40608645 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2642 p.R881T 0.015 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 12 19 61.29 25 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40619650 40619650 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 40619650 40619650 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2458 p.E820K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 57 13 18.57 52 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40619736 40619736 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 40619736 40619736 G A SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2372 p.S791L 0.387 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 41 22 34.92 82 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40630548 40630548 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 40630548 40630548 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.1936 p.D646H 0.928 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 143 25 14.88 110 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40641950 40641950 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 40641950 40641950 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.1405 p.D469N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 9 4 30.77 18 0 0.00 BRWD1 54014 genome.wustl.edu 37 21 40667817 40667817 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 40667817 40667817 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.461 p.R154P 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 65 16 19.75 90 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79932387 79932387 + Silent SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 79932387 79932387 C G SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.5130 p.G1710 0.988 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 38 7 14.89 82 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79936929 79936929 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 79936929 79936929 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.4565 p.S1522L 0.948 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 119 33 21.71 60 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79942412 79942412 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 79942412 79942412 G T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.3955 p.R1319S 0.994 superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 16 5 23.81 67 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79946590 79946590 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 79946590 79946590 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.3564 p.L1188 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 45 7 13.46 65 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79955474 79955474 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 79955474 79955474 C T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known nonsense c.2925 p.W975* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 37 6 13.95 71 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79965077 79965077 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 79965077 79965077 C T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known splice_site c.2326-1 e21-1 1.000 - - - no_errors BRWD3 HGNC ENSG00000165288 44 18 29.03 48 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79975055 79975055 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 79975055 79975055 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.1977 p.D659 0.991 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 35 17 32.69 70 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79980505 79980505 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 79980505 79980505 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.1448 p.S483L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 68 11 13.92 81 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79991582 79991582 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 79991582 79991582 A G SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.819 p.C273 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 11 8 42.11 33 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79999553 79999553 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 79999553 79999553 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.791 p.S264L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 104 13 11.02 71 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79999566 79999566 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 79999566 79999566 G C SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.778 p.L260V 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 82 11 11.83 65 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 79999748 79999748 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 79999748 79999748 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.596 p.S199L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 77 19 19.79 67 0 0.00 BRWD3 254065 genome.wustl.edu 37 X 80064057 80064057 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 80064057 80064057 C T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.161 p.R54Q 0.992 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 92 26 22.03 64 0 0.00 BSCL2 26580 genome.wustl.edu 37 11 62462159 62462159 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 62462159 62462159 G A SNP BSCL2 ENST00000360796 human ensembl 70_37 -1 known missense c.511 p.R171C 0.964 pfam_Adipose-reg_protein_Seipin pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 29 13 30.95 29 0 0.00 BSDC1 55108 genome.wustl.edu 37 1 32834008 32834008 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 32834008 32834008 C A SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known missense c.1351 p.G451C 0.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 8 28 77.78 28 0 0.00 BSDC1 55108 genome.wustl.edu 37 1 32841956 32841956 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 32841956 32841956 C G SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known missense c.1114 p.E372Q 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 37 5 11.90 48 0 0.00 BSDC1 55108 genome.wustl.edu 37 1 32842233 32842233 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 32842233 32842233 C T SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known silent c.837 p.E279 0.194 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 26 7 21.21 42 0 0.00 BSG 682 genome.wustl.edu 37 19 572634 572634 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 572634 572634 C A SNP BSG ENST00000590218 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors BSG HGNC ENSG00000172270 120 23 16.08 87 0 0.00 BSG 682 genome.wustl.edu 37 19 577839 577839 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 577839 577839 G T SNP BSG ENST00000333511 human ensembl 70_37 +1 known nonsense c.133 p.E45* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 11 9 45.00 16 0 0.00 BSG 682 genome.wustl.edu 37 19 577916 577916 + Silent SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 577916 577916 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known silent c.210 p.L70 0.987 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 20 8 28.57 30 0 0.00 BSG 682 genome.wustl.edu 37 19 579513 579513 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 579513 579513 C T SNP BSG ENST00000333511 human ensembl 70_37 +1 known silent c.429 p.F143 0.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 41 31 43.06 79 0 0.00 BSG 682 genome.wustl.edu 37 19 579536 579536 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 579536 579536 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.452 p.S151C 0.001 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 41 24 36.92 72 0 0.00 BSG 682 genome.wustl.edu 37 19 580678 580678 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 580678 580678 G C SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.688 p.E230Q 0.985 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 22 17 43.59 39 0 0.00 BSG 682 genome.wustl.edu 37 19 581370 581370 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 581370 581370 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known nonsense c.848 p.S283* 0.159 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 50 20 28.57 98 0 0.00 BSG 682 genome.wustl.edu 37 19 581522 581522 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 581522 581522 G A SNP BSG ENST00000333511 human ensembl 70_37 +1 known missense c.1000 p.E334K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 59 39 39.80 88 0 0.00 BSN 8927 genome.wustl.edu 37 3 49689000 49689000 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49689000 49689000 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known nonsense c.2011 p.Q671* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 28 12 30.00 34 0 0.00 BSN 8927 genome.wustl.edu 37 3 49689465 49689465 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49689465 49689465 C A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.2476 p.L826I 0.095 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 45 16 26.23 37 0 0.00 BSN 8927 genome.wustl.edu 37 3 49691094 49691094 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 49691094 49691094 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.4105 p.E1369K 0.731 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 28 19 40.43 62 0 0.00 BSN 8927 genome.wustl.edu 37 3 49694005 49694005 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 49694005 49694005 A G SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7016 p.D2339G 0.610 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 9 4 30.77 26 0 0.00 BSN 8927 genome.wustl.edu 37 3 49694404 49694404 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 49694404 49694404 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7415 p.R2472Q 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 34 28 45.16 40 0 0.00 BSN 8927 genome.wustl.edu 37 3 49694574 49694574 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 3 49694574 49694574 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7585 p.R2529W 0.469 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 44 38 45.78 76 0 0.00 BSN 8927 genome.wustl.edu 37 3 49694913 49694913 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49694913 49694913 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7924 p.D2642N 0.981 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 53 20 27.40 92 0 0.00 BSN 8927 genome.wustl.edu 37 3 49695041 49695041 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49695041 49695041 C G SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.8052 p.V2684 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 47 24 33.80 79 0 0.00 BSN 8927 genome.wustl.edu 37 3 49695363 49695363 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 49695363 49695363 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known nonsense c.8374 p.Q2792* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 41 27 39.71 84 0 0.00 BSN 8927 genome.wustl.edu 37 3 49698698 49698698 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 49698698 49698698 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.9420 p.A3140 0.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 49 6 10.91 51 0 0.00 BSN 8927 genome.wustl.edu 37 3 49698953 49698953 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 49698953 49698953 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.9675 p.Q3225 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 33 4 10.81 54 0 0.00 BSN 8927 genome.wustl.edu 37 3 49699404 49699404 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49699404 49699404 G C SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.10126 p.E3376Q 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 22 12 35.29 58 0 0.00 BSN 8927 genome.wustl.edu 37 3 49700629 49700629 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49700629 49700629 C A SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.11038 p.R3680 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 31 10 24.39 30 0 0.00 BSN 8927 genome.wustl.edu 37 3 49701229 49701229 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49701229 49701229 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.11518 p.E3840K 0.954 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 21 8 27.59 43 0 0.00 BSN 8927 genome.wustl.edu 37 3 49701900 49701900 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 49701900 49701900 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.11653 p.A3885T 0.832 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 37 16 30.19 64 0 0.00 BSN-AS2 100132677 genome.wustl.edu 37 3 49586969 49586970 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49586969 49586970 - T INS BSN-AS2 ENST00000421598 human ensembl 70_37 -1 known rna NULL NULL 0.165:0.174 - - - no_errors BSN-AS2 HGNC ENSG00000226913 28 5 15.15 32 0 0.00 BSND 7809 genome.wustl.edu 37 1 55464880 55464880 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 55464880 55464880 C T SNP BSND ENST00000371265 human ensembl 70_37 +1 known silent c.21 p.F7 1.000 NULL NULL - no_errors BSND HGNC ENSG00000162399 143 49 25.52 149 0 0.00 BSND 7809 genome.wustl.edu 37 1 55465030 55465030 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55465030 55465030 C A SNP BSND ENST00000371265 human ensembl 70_37 +1 known nonsense c.171 p.Y57* 1.000 NULL NULL - no_errors BSND HGNC ENSG00000162399 9 15 62.50 33 0 0.00 BSPH1 100131137 genome.wustl.edu 37 19 48495318 48495318 + Silent SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 48495318 48495318 G C SNP BSPH1 ENST00000344839 human ensembl 70_37 -1 known silent c.21 p.L7 0.000 NULL pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors BSPH1 HGNC ENSG00000188334 33 8 19.51 22 0 0.00 BSPH1 100131137 genome.wustl.edu 37 19 48495318 48495318 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48495318 48495318 G C SNP BSPH1 ENST00000344839 human ensembl 70_37 -1 known silent c.21 p.L7 0.000 NULL pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors BSPH1 HGNC ENSG00000188334 34 11 24.44 37 0 0.00 BSPRY 54836 genome.wustl.edu 37 9 116116519 116116519 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116116519 116116519 G A SNP BSPRY ENST00000374183 human ensembl 70_37 +1 known splice_site c.202-1 e2-1 1.000 - - - no_errors BSPRY HGNC ENSG00000119411 66 12 15.38 39 0 0.00 BSPRY 54836 genome.wustl.edu 37 9 116132318 116132318 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 116132318 116132318 G A SNP BSPRY ENST00000374183 human ensembl 70_37 +1 known missense c.1105 p.E369K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 56 9 13.85 64 0 0.00 BST1 683 genome.wustl.edu 37 4 15704793 15704793 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 15704793 15704793 C G SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.26 p.S9W 0.000 NULL pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 10 7 41.18 25 0 0.00 BST1 683 genome.wustl.edu 37 4 15709241 15709241 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 15709241 15709241 G C SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.423 p.L141F 0.998 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 66 13 16.46 82 0 0.00 BST1 683 genome.wustl.edu 37 4 15713435 15713435 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15713435 15713435 G A SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.457 p.D153N 0.940 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 51 16 23.88 55 0 0.00 BST1 683 genome.wustl.edu 37 4 15717380 15717380 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 15717380 15717380 G A SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.662 p.R221Q 1.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 24 6 20.00 40 0 0.00 BST2 684 genome.wustl.edu 37 19 17514607 17514607 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17514607 17514607 C T SNP BST2 ENST00000252593 human ensembl 70_37 -1 known missense c.440 p.R147K 0.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BST2 HGNC ENSG00000130303 130 79 37.62 143 0 0.00 BTAF1 9044 genome.wustl.edu 37 10 93699793 93699793 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 93699793 93699793 G A SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.223 p.E75K 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 50 22 30.56 82 0 0.00 BTAF1 9044 genome.wustl.edu 37 10 93749226 93749226 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 93749226 93749226 C G SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.2743 p.P915A 1.000 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 77 28 26.67 125 0 0.00 BTAF1 9044 genome.wustl.edu 37 10 93757460 93757460 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 93757460 93757460 C T SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known silent c.3612 p.F1204 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 53 9 14.52 82 0 0.00 BTAF1 9044 genome.wustl.edu 37 10 93773678 93773678 + Silent SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 93773678 93773678 G T SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known silent c.4476 p.L1492 0.907 pfam_SNF2_N pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 33 4 10.81 38 0 0.00 BTAF1 9044 genome.wustl.edu 37 10 93778648 93778648 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 93778648 93778648 C G SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.4819 p.L1607V 1.000 NULL pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 21 10 32.26 35 0 0.00 BTBD1 53339 genome.wustl.edu 37 15 83718834 83718834 + Missense_Mutation SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 83718834 83718834 T C SNP BTBD1 ENST00000261721 human ensembl 70_37 -1 known missense c.655 p.I219V 1.000 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 20 5 20.00 22 0 0.00 BTBD1 53339 genome.wustl.edu 37 15 83735727 83735727 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 83735727 83735727 G A SNP BTBD1 ENST00000261721 human ensembl 70_37 -1 known silent c.177 p.F59 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 12 4 25.00 19 0 0.00 BTBD10 84280 genome.wustl.edu 37 11 13441050 13441050 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 13441050 13441050 C G SNP BTBD10 ENST00000278174 human ensembl 70_37 -1 known missense c.541 p.D181H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 125 45 26.32 117 0 0.00 BTBD11 121551 genome.wustl.edu 37 12 107914403 107914403 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 107914403 107914403 C T SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.1275 p.I425 0.979 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 20 8 28.57 25 0 0.00 BTBD11 121551 genome.wustl.edu 37 12 107937845 107937845 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 107937845 107937845 C T SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.1419 p.F473 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 37 8 17.78 40 0 0.00 BTBD11 121551 genome.wustl.edu 37 12 108012145 108012145 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 108012145 108012145 C G SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known missense c.2442 p.I814M 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 14 8 36.36 23 0 0.00 BTBD11 121551 genome.wustl.edu 37 12 108013935 108013935 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 108013935 108013935 G A SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.2625 p.A875 0.768 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 33 26 44.07 145 0 0.00 BTBD11 121551 genome.wustl.edu 37 12 108051308 108051308 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 108051308 108051308 C G SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known nonsense c.3128 p.S1043* 0.997 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 27 24 47.06 58 0 0.00 BTBD16 118663 genome.wustl.edu 37 10 124089058 124089058 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 124089058 124089058 C T SNP BTBD16 ENST00000368994 human ensembl 70_37 +1 known silent c.978 p.L326 0.083 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 38 8 17.39 42 0 0.00 BTBD18 643376 genome.wustl.edu 37 11 57511717 57511717 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57511717 57511717 C A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known missense c.2028 p.E676D 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 31 19 38.00 75 0 0.00 BTBD18 643376 genome.wustl.edu 37 11 57512268 57512268 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57512268 57512268 C T SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known missense c.1477 p.E493K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 76 10 11.63 86 0 0.00 BTBD18 643376 genome.wustl.edu 37 11 57512547 57512547 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57512547 57512547 G A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known nonsense c.1198 p.Q400* 0.008 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 29 12 29.27 20 0 0.00 BTBD18 643376 genome.wustl.edu 37 11 57518610 57518610 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57518610 57518610 G A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known silent c.51 p.L17 0.995 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 21 6 22.22 42 0 0.00 BTBD7 55727 genome.wustl.edu 37 14 93709190 93709190 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 93709190 93709190 G A SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.2828 p.P943L 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 116 23 16.55 129 0 0.00 BTBD7 55727 genome.wustl.edu 37 14 93717986 93717986 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 93717986 93717986 C G SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.1765 p.E589Q 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 39 24 38.10 73 0 0.00 BTBD7 55727 genome.wustl.edu 37 14 93760445 93760445 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 93760445 93760445 C G SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.921 p.L307F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 46 16 25.81 39 0 0.00 BTBD8 284697 genome.wustl.edu 37 1 92554440 92554440 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92554440 92554440 G C SNP BTBD8 ENST00000342818 human ensembl 70_37 +1 known missense c.335 p.R112T 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 56 37 39.78 86 0 0.00 BTBD8 284697 genome.wustl.edu 37 1 92613279 92613279 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 92613279 92613279 G T SNP BTBD8 ENST00000342818 human ensembl 70_37 +1 known missense c.1058 p.R353I 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 41 25 37.88 64 0 0.00 BTBD9 114781 genome.wustl.edu 37 6 38548046 38548046 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38548046 38548046 G C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known missense c.982 p.Q328E 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 32 9 21.43 17 0 0.00 BTBD9 114781 genome.wustl.edu 37 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 38548069 38548069 G A SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known missense c.959 p.S320F 0.985 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 11 11 50.00 37 0 0.00 BTBD9 114781 genome.wustl.edu 37 6 38560593 38560593 + Silent SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 38560593 38560593 T C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known silent c.573 p.L191 0.970 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 39 25 39.06 54 0 0.00 BTBD9 114781 genome.wustl.edu 37 6 38560593 38560593 + Silent SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 38560593 38560593 T C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known silent c.573 p.L191 0.970 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 53 28 34.15 42 0 0.00 BTBD9 114781 genome.wustl.edu 37 6 38562104 38562104 + Splice_Site SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 38562104 38562104 C T SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known splice_site c.186-1 e2-1 1.000 - - - no_errors BTBD9 HGNC ENSG00000183826 50 23 31.51 47 0 0.00 BTC 685 genome.wustl.edu 37 4 75675896 75675896 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 75675896 75675896 C G SNP BTC ENST00000395743 human ensembl 70_37 -1 known missense c.315 p.E105D 0.932 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors BTC HGNC ENSG00000174808 193 88 31.32 348 0 0.00 BTD 686 genome.wustl.edu 37 3 15672995 15672995 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15672995 15672995 T G SNP BTD ENST00000437172 human ensembl 70_37 +1 putative missense c.43 p.L15V 0.137 NULL pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 14 13 48.15 50 0 0.00 BTD 686 genome.wustl.edu 37 3 15686343 15686343 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15686343 15686343 A C SNP BTD ENST00000303498 human ensembl 70_37 +1 known missense c.980 p.N327T 0.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 11 3 21.43 32 0 0.00 BTD 686 genome.wustl.edu 37 3 15686759 15686759 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 15686759 15686759 C G SNP BTD ENST00000303498 human ensembl 70_37 +1 known missense c.1396 p.L466V 0.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 62 16 20.51 40 0 0.00 BTF3 689 genome.wustl.edu 37 5 72801062 72801062 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 72801062 72801062 G A SNP BTF3 ENST00000380591 human ensembl 70_37 +1 known silent c.620 p.*207 1.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3 HGNC ENSG00000145741 102 28 21.54 100 0 0.00 BTG4 54766 genome.wustl.edu 37 11 111367925 111367925 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111367925 111367925 A G SNP BTG4 ENST00000525791 human ensembl 70_37 -1 putative missense c.521 p.V174A 0.001 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 29 7 19.44 47 0 0.00 BTK 695 genome.wustl.edu 37 X 100604945 100604945 + Splice_Site SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 100604945 100604945 C G SNP BTK ENST00000308731 human ensembl 70_37 -1 known splice_site c.1909-1 e18-1 1.000 - - - no_errors BTK HGNC ENSG00000010671 165 29 14.87 204 0 0.00 BTK 695 genome.wustl.edu 37 X 100608249 100608249 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 100608249 100608249 A T SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.1841 p.L614Q 0.842 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 91 21 18.75 71 0 0.00 BTK 695 genome.wustl.edu 37 X 100613379 100613379 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 100613379 100613379 G C SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.1021 p.Q341E 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 66 8 10.81 66 0 0.00 BTK 695 genome.wustl.edu 37 X 100613645 100613645 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 100613645 100613645 C A SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.934 p.A312S 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 36 34 48.57 59 0 0.00 BTLA 151888 genome.wustl.edu 37 3 112185007 112185007 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112185007 112185007 C T SNP BTLA ENST00000334529 human ensembl 70_37 -1 known missense c.818 p.R273K 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC ENSG00000186265 80 23 22.33 43 0 0.00 BTLA 151888 genome.wustl.edu 37 3 112198418 112198418 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 112198418 112198418 G A SNP BTLA ENST00000334529 human ensembl 70_37 -1 known missense c.287 p.S96L 0.013 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC ENSG00000186265 35 26 42.62 46 0 0.00 BTLA 151888 genome.wustl.edu 37 3 112198561 112198561 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 112198561 112198561 G A SNP BTLA ENST00000334529 human ensembl 70_37 -1 known silent c.144 p.I48 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC ENSG00000186265 120 34 22.08 152 0 0.00 BTN2A1 11120 genome.wustl.edu 37 6 26463496 26463496 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 26463496 26463496 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known missense c.455 p.S152L 0.495 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC ENSG00000112763 26 38 59.38 41 0 0.00 BTN2A1 11120 genome.wustl.edu 37 6 26465472 26465472 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26465472 26465472 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known silent c.772 p.L258 0.036 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC ENSG00000112763 49 13 20.97 81 0 0.00 BTN2A1 11120 genome.wustl.edu 37 6 26468258 26468258 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26468258 26468258 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known silent c.1065 p.F355 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC ENSG00000112763 65 12 15.58 68 0 0.00 BTN2A2 10385 genome.wustl.edu 37 6 26392863 26392863 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 26392863 26392863 C T SNP BTN2A2 ENST00000356709 human ensembl 70_37 +1 known nonsense c.1240 p.Q414* 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 59 9 13.24 94 0 0.00 BTN2A3P 54718 genome.wustl.edu 37 6 26428906 26428906 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 26428906 26428906 C T SNP BTN2A3P ENST00000465856 human ensembl 70_37 +1 known rna NULL NULL 0.095 - - - no_errors BTN2A3P HGNC ENSG00000124549 49 25 33.78 85 0 0.00 BTN3A1 11119 genome.wustl.edu 37 6 26409930 26409930 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 26409930 26409930 G A SNP BTN3A1 ENST00000289361 human ensembl 70_37 +1 known nonsense c.885 p.W295* 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 55 13 18.84 33 0 0.00 BTN3A1 11119 genome.wustl.edu 37 6 26411346 26411346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26411346 26411346 G C SNP BTN3A1 ENST00000289361 human ensembl 70_37 +1 known missense c.974 p.R325T 0.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 44 19 30.16 71 0 0.00 BTN3A2 11118 genome.wustl.edu 37 6 26373523 26373523 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26373523 26373523 C T SNP BTN3A2 ENST00000356386 human ensembl 70_37 +1 known silent c.936 p.L312 0.958 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors BTN3A2 HGNC ENSG00000186470 18 7 28.00 19 0 0.00 BTN3A3 10384 genome.wustl.edu 37 6 26444366 26444366 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26444366 26444366 G A SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known silent c.267 p.Q89 0.274 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 111 22 16.54 130 1 0.76 BTN3A3 10384 genome.wustl.edu 37 6 26444434 26444434 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26444434 26444434 G A SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known missense c.335 p.R112Q 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 44 37 45.12 78 0 0.00 BTN3A3 10384 genome.wustl.edu 37 6 26446061 26446061 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 6 26446061 26446061 C T SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known missense c.563 p.P188L 0.000 pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 55 40 41.67 107 0 0.00 BTN3A3 10384 genome.wustl.edu 37 6 26446130 26446130 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26446130 26446130 G C SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known missense c.632 p.R211T 0.000 pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 40 11 21.57 75 0 0.00 BTNL10 100129094 genome.wustl.edu 37 1 228699379 228699379 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 228699379 228699379 C T SNP BTNL10 ENST00000400948 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors BTNL10 HGNC ENSG00000215811 41 10 19.61 26 0 0.00 BTNL2 56244 genome.wustl.edu 37 6 32364126 32364126 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 32364126 32364126 G A SNP BTNL2 ENST00000468270 human ensembl 70_37 -1 known silent c.768 p.L256 0.538 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors BTNL2 HGNC ENSG00000204290 61 20 24.69 62 0 0.00 BTNL3 10917 genome.wustl.edu 37 5 180431735 180431735 + Splice_Site SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 180431735 180431735 G A SNP BTNL3 ENST00000342868 human ensembl 70_37 +1 known splice_site c.836-1 e7-1 0.680 - - - no_errors BTNL3 HGNC ENSG00000168903 47 18 27.69 63 0 0.00 BTRC 8945 genome.wustl.edu 37 10 103190136 103190136 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 103190136 103190136 C G SNP BTRC ENST00000370187 human ensembl 70_37 +1 known missense c.83 p.S28C 1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BTRC HGNC ENSG00000166167 54 28 34.15 98 0 0.00 BUB1 699 genome.wustl.edu 37 2 111408297 111408297 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 111408297 111408297 G A SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.2029 p.R677C 0.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 25 17 40.48 60 0 0.00 BUB1 699 genome.wustl.edu 37 2 111415990 111415990 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 111415990 111415990 G C SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.1513 p.Q505E 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 33 6 15.38 25 0 0.00 BUB1 699 genome.wustl.edu 37 2 111416087 111416087 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 111416087 111416087 C T SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.1416 p.M472I 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 27 14 33.33 30 0 0.00 BUB1 699 genome.wustl.edu 37 2 111419251 111419251 + Silent SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 111419251 111419251 G T SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known silent c.1125 p.S375 0.573 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 36 4 10.00 29 0 0.00 BUB1 699 genome.wustl.edu 37 2 111431774 111431774 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 111431774 111431774 A C SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.114 p.F38L 1.000 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 16 8 33.33 34 0 0.00 BUB1B 701 genome.wustl.edu 37 15 40477477 40477477 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 40477477 40477477 C T SNP BUB1B ENST00000412359 human ensembl 70_37 +1 known missense c.905 p.S302F 0.001 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 40 25 38.46 64 0 0.00 BUB1B 701 genome.wustl.edu 37 15 40498657 40498657 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 40498657 40498657 G C SNP BUB1B ENST00000412359 human ensembl 70_37 +1 known silent c.2049 p.L683 0.998 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 77 42 35.29 56 0 0.00 BUB3 9184 genome.wustl.edu 37 10 124914622 124914622 + Silent SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 124914622 124914622 C A SNP BUB3 ENST00000368865 human ensembl 70_37 +1 known silent c.189 p.A63 0.408 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BUB3 HGNC ENSG00000154473 35 5 12.50 37 0 0.00 BUD13 84811 genome.wustl.edu 37 11 116628986 116628986 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 116628986 116628986 C A SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.1498 p.G500W 1.000 pfam_Bud13 pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 77 22 22.22 105 0 0.00 BUD13 84811 genome.wustl.edu 37 11 116631614 116631614 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 116631614 116631614 C T SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.1091 p.S364N 0.000 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 60 18 23.08 88 0 0.00 BUD13 84811 genome.wustl.edu 37 11 116633493 116633493 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 116633493 116633493 G A SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.812 p.S271F 0.973 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 80 12 12.90 96 0 0.00 BUD13 84811 genome.wustl.edu 37 11 116633813 116633813 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 116633813 116633813 G T SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known silent c.492 p.P164 0.943 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 42 5 10.42 75 0 0.00 BVES 11149 genome.wustl.edu 37 6 105563703 105563703 + Splice_Site SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 105563703 105563703 C A SNP BVES ENST00000314641 human ensembl 70_37 -1 known splice_site c.817-1 e6-1 1.000 - - - no_errors BVES HGNC ENSG00000112276 36 4 10.00 64 0 0.00 BVES 11149 genome.wustl.edu 37 6 105577278 105577278 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 105577278 105577278 C T SNP BVES ENST00000314641 human ensembl 70_37 -1 known silent c.327 p.S109 0.094 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 17 13 43.33 36 0 0.00 BVES-AS1 154442 genome.wustl.edu 37 6 105602314 105602314 + RNA SNP A A G TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 6 105602314 105602314 A G SNP BVES-AS1 ENST00000369120 human ensembl 70_37 +1 known rna NULL NULL 0.498 - - - no_errors BVES-AS1 HGNC ENSG00000203808 8 9 52.94 21 0 0.00 BVES-AS1 154442 genome.wustl.edu 37 6 105614566 105614566 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 105614566 105614566 G A SNP BVES-AS1 ENST00000369122 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors BVES-AS1 HGNC ENSG00000203808 39 11 22.00 81 0 0.00 BYSL 705 genome.wustl.edu 37 6 41889361 41889361 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 41889361 41889361 G A SNP BYSL ENST00000230340 human ensembl 70_37 +1 known missense c.61 p.D21N 1.000 NULL pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 6 11 64.71 12 0 0.00 BZRAP1 9256 genome.wustl.edu 37 17 56382430 56382430 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 56382430 56382430 C T SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.5536 p.E1846K 0.533 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 61 23 27.38 73 0 0.00 BZRAP1 9256 genome.wustl.edu 37 17 56385241 56385241 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 56385241 56385241 C G SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.4793 p.R1598T 0.996 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 13 10 43.48 15 0 0.00 BZRAP1 9256 genome.wustl.edu 37 17 56393399 56393399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56393399 56393399 C G SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.2083 p.D695H 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 17 10 37.04 20 0 0.00 BZRAP1 9256 genome.wustl.edu 37 17 56399684 56399684 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56399684 56399684 G A SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known silent c.1407 p.V469 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 52 19 26.76 60 0 0.00 BZRAP1 9256 genome.wustl.edu 37 17 56399716 56399716 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 56399716 56399716 G A SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.1375 p.R459W 0.980 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 83 40 32.52 142 0 0.00 BZRAP1-AS1 100506779 genome.wustl.edu 37 17 56423689 56423689 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56423689 56423689 G C SNP BZRAP1-AS1 ENST00000580022 human ensembl 70_37 +1 known rna NULL NULL 0.770 - - - no_errors BZRAP1-AS1 HGNC ENSG00000265148 18 7 28.00 26 0 0.00 BZW1 9689 genome.wustl.edu 37 2 201686900 201686900 + Nonstop_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 201686900 201686900 G C SNP BZW1 ENST00000409600 human ensembl 70_37 +1 known nonstop c.1259 p.*420S 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 56 20 26.32 52 0 0.00 BZW2 28969 genome.wustl.edu 37 7 16720997 16720997 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 16720997 16720997 G A SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known missense c.307 p.E103K 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 42 13 23.64 55 0 0.00 BZW2 28969 genome.wustl.edu 37 7 16736606 16736606 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 16736606 16736606 C T SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known silent c.889 p.L297 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 20 8 28.57 40 0 0.00 BZW2 28969 genome.wustl.edu 37 7 16737784 16737784 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 16737784 16737784 C T SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known nonsense c.1081 p.Q361* 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 25 10 28.57 65 0 0.00 C10orf10 11067 genome.wustl.edu 37 10 45473403 45473403 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 45473403 45473403 C T SNP C10orf10 ENST00000298295 human ensembl 70_37 -1 known missense c.76 p.G26S 0.000 NULL NULL - no_errors C10orf10 HGNC ENSG00000165507 66 10 13.16 67 0 0.00 C10orf107 219621 genome.wustl.edu 37 10 63450372 63450372 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 63450372 63450372 G C SNP C10orf107 ENST00000330194 human ensembl 70_37 +1 known missense c.281 p.G94A 1.000 NULL NULL - no_errors C10orf107 HGNC ENSG00000183346 27 17 37.78 23 0 0.00 C10orf11 83938 genome.wustl.edu 37 10 77795880 77795880 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 77795880 77795880 C T SNP C10orf11 ENST00000372499 human ensembl 70_37 +1 known silent c.162 p.L54 1.000 NULL NULL - no_errors C10orf11 HGNC ENSG00000148655 10 4 28.57 16 0 0.00 C10orf112 340895 genome.wustl.edu 37 10 19636794 19636794 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 19636794 19636794 C A SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.1884 p.S628R 0.290 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 24 23 48.94 46 0 0.00 C10orf112 340895 genome.wustl.edu 37 10 19641099 19641099 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 19641099 19641099 C G SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known silent c.2202 p.L734 0.956 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 46 21 31.34 74 0 0.00 C10orf112 340895 genome.wustl.edu 37 10 19676517 19676517 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 19676517 19676517 G T SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.2390 p.S797I 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 35 4 10.00 45 0 0.00 C10orf112 340895 genome.wustl.edu 37 10 19884191 19884191 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 19884191 19884191 G A SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.3847 p.V1283I 0.278 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 43 11 20.00 97 0 0.00 C10orf113 387638 genome.wustl.edu 37 10 21435341 21435344 + Frame_Shift_Del DEL CACT CACT - TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 CACT CACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 10 21435341 21435344 CACT - DEL C10orf113 ENST00000534331 human ensembl 70_37 -1 known frame_shift_del c.97_94 p.S32fs 0.006:0.007:0.007:0.008 NULL NULL - no_errors C10orf113 HGNC ENSG00000204683 29 54 65.06 81 0 0.00 ADIRF 10974 genome.wustl.edu 37 10 88729960 88729960 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 88729960 88729960 C T SNP C10orf116 ENST00000372013 human ensembl 70_37 +1 known missense c.65 p.S22L 0.104 NULL NULL - no_errors C10orf116 HGNC ENSG00000148671 6 12 66.67 24 0 0.00 ADIRF 10974 genome.wustl.edu 37 10 88729991 88729991 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88729991 88729991 G A SNP C10orf116 ENST00000372013 human ensembl 70_37 +1 known silent c.96 p.V32 0.997 NULL NULL - no_errors C10orf116 HGNC ENSG00000148671 11 8 42.11 20 0 0.00 C10orf118 55088 genome.wustl.edu 37 10 115894805 115894805 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 115894805 115894805 G C SNP C10orf118 ENST00000369287 human ensembl 70_37 -1 known missense c.1522 p.L508V 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 14 18 56.25 30 0 0.00 C10orf118 55088 genome.wustl.edu 37 10 115922445 115922445 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 115922445 115922445 C G SNP C10orf118 ENST00000369287 human ensembl 70_37 -1 known missense c.583 p.E195Q 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 73 18 19.57 102 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98741904 98741904 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 98741904 98741904 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.757 p.D253N 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 17 7 29.17 57 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98742023 98742023 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98742023 98742023 G C SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known silent c.876 p.L292 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 17 16 48.48 36 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98742267 98742267 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 98742267 98742267 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1120 p.D374N 0.097 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 11 5 31.25 17 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98742623 98742623 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 98742623 98742623 G T SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1476 p.K492N 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 14 6 30.00 12 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98742703 98742703 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98742703 98742703 G C SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1556 p.R519T 0.142 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 12 7 36.84 31 0 0.00 C10orf12 26148 genome.wustl.edu 37 10 98744690 98744690 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 98744690 98744690 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known silent c.3543 p.L1181 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 0 10 100.00 16 0 0.00 C10orf126 283080 genome.wustl.edu 37 10 29162208 29162208 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 29162208 29162208 G C SNP C10orf126 ENST00000375520 human ensembl 70_37 +1 known missense c.198 p.W66C 0.119 NULL NULL - no_errors C10orf126 HGNC ENSG00000204365 48 25 34.25 52 0 0.00 C10orf128 170371 genome.wustl.edu 37 10 50369632 50369632 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 50369632 50369632 C G SNP C10orf128 ENST00000374148 human ensembl 70_37 -1 known missense c.462 p.K154N 0.000 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 18 16 47.06 35 0 0.00 C10orf128 170371 genome.wustl.edu 37 10 50375960 50375960 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 50375960 50375960 C T SNP C10orf128 ENST00000374151 human ensembl 70_37 -1 known missense c.91 p.E31K 0.038 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 3 6 66.67 26 0 0.00 C10orf129 142827 genome.wustl.edu 37 10 96974621 96974621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96974621 96974621 G C SNP C10orf129 ENST00000341686 human ensembl 70_37 +1 known missense c.1008 p.K336N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC ENSG00000173124 11 10 47.62 34 0 0.00 C10orf129 142827 genome.wustl.edu 37 10 96974727 96974727 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96974727 96974727 G A SNP C10orf129 ENST00000341686 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.977 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC ENSG00000173124 9 8 47.06 27 0 0.00 C10orf131 100127889 genome.wustl.edu 37 10 97684091 97684091 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 97684091 97684091 C G SNP C10orf131 ENST00000371202 human ensembl 70_37 +1 known missense c.82 p.Q28E 0.961 NULL NULL - no_errors C10orf131 HGNC ENSG00000173088 97 19 16.38 152 0 0.00 C10orf137 26098 genome.wustl.edu 37 10 127414249 127414249 + Splice_Site SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 127414249 127414249 A G SNP C10orf137 ENST00000356792 human ensembl 70_37 +1 known splice_site c.636-2 e6-2 1.000 - - - no_errors C10orf137 HGNC ENSG00000107938 21 4 16.00 34 0 0.00 C10orf2 56652 genome.wustl.edu 37 10 102748733 102748733 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102748733 102748733 C T SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known nonsense c.766 p.R256* 0.407 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 45 8 15.09 59 0 0.00 C10orf2 56652 genome.wustl.edu 37 10 102748742 102748742 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 102748742 102748742 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known missense c.775 p.E259K 1.000 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 105 57 35.19 94 0 0.00 C10orf2 56652 genome.wustl.edu 37 10 102749583 102749583 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 102749583 102749583 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known missense c.1426 p.D476N 1.000 pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 23 13 36.11 60 0 0.00 C10orf2 56652 genome.wustl.edu 37 10 102753198 102753198 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 102753198 102753198 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known silent c.1986 p.Q662 0.955 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 38 14 26.92 45 0 0.00 C10orf25 220979 genome.wustl.edu 37 10 45496289 45496289 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 45496289 45496289 C T SNP C10orf25 ENST00000298298 human ensembl 70_37 -1 known missense c.19 p.E7K 0.004 NULL NULL - no_errors C10orf25 HGNC ENSG00000165511 5 4 44.44 21 0 0.00 C10orf54 64115 genome.wustl.edu 37 10 73520432 73520432 + RNA SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 73520432 73520432 T C SNP C10orf54 ENST00000481568 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C10orf54 HGNC ENSG00000107738 17 6 26.09 31 0 0.00 C10orf62 414157 genome.wustl.edu 37 10 99350069 99350069 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 99350069 99350069 C T SNP C10orf62 ENST00000370640 human ensembl 70_37 +1 known missense c.415 p.R139W 0.013 NULL NULL - no_errors C10orf62 HGNC ENSG00000203942 20 11 35.48 27 0 0.00 C10orf68 79741 genome.wustl.edu 37 10 32872048 32872048 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32872048 32872048 C G SNP C10orf68 ENST00000572165 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors C10orf68 HGNC ENSG00000150076 21 11 33.33 33 0 0.00 C10orf68 79741 genome.wustl.edu 37 10 33123816 33123816 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 33123816 33123816 G C SNP C10orf68 ENST00000375025 human ensembl 70_37 +1 known missense c.1263 p.K421N 0.004 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 46 17 26.98 65 0 0.00 C10orf68 79741 genome.wustl.edu 37 10 33137547 33137547 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 33137547 33137547 G C SNP C10orf68 ENST00000375025 human ensembl 70_37 +1 known missense c.1717 p.D573H 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 74 24 24.49 97 0 0.00 C10orf71 118461 genome.wustl.edu 37 10 50531905 50531905 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50531905 50531905 C T SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.1315 p.P439S 0.903 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 12 10 45.45 54 0 0.00 C10orf71 118461 genome.wustl.edu 37 10 50533782 50533782 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 50533782 50533782 G C SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.3192 p.E1064D 0.017 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 18 8 30.77 30 0 0.00 C10orf71 118461 genome.wustl.edu 37 10 50534359 50534359 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 10 50534359 50534359 C T SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.3769 p.R1257W 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 10 13 56.52 57 0 0.00 C10orf71 118461 genome.wustl.edu 37 10 50534536 50534536 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 50534536 50534536 G A SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.3946 p.E1316K 0.077 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 24 5 17.24 50 0 0.00 C10orf82 143379 genome.wustl.edu 37 10 118423748 118423748 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 118423748 118423748 G A SNP C10orf82 ENST00000588184 human ensembl 70_37 -1 known missense c.496 p.P166S 0.022 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 9 9 50.00 20 0 0.00 C10orf82 143379 genome.wustl.edu 37 10 118427793 118427793 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 10 118427793 118427793 G A SNP C10orf82 ENST00000588184 human ensembl 70_37 -1 known silent c.31 p.L11 0.011 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 30 19 38.78 32 0 0.00 C10orf88 80007 genome.wustl.edu 37 10 124692001 124692001 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 124692001 124692001 G C SNP C10orf88 ENST00000481909 human ensembl 70_37 -1 known missense c.1280 p.T427S 0.000 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 27 7 20.59 38 0 0.00 C10orf90 118611 genome.wustl.edu 37 10 128193393 128193393 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 128193393 128193393 C G SNP C10orf90 ENST00000544758 human ensembl 70_37 -1 known missense c.667 p.E223Q 0.006 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 41 5 10.87 39 0 0.00 C10orf90 118611 genome.wustl.edu 37 10 128335207 128335207 + Splice_Site SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 128335207 128335207 C G SNP C10orf90 ENST00000544758 human ensembl 70_37 -1 known splice_site c.241-1 e2-1 0.998 - - - no_errors C10orf90 HGNC ENSG00000154493 16 13 44.83 30 0 0.00 C11orf21 29125 genome.wustl.edu 37 11 2320718 2320718 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 2320718 2320718 G A SNP C11orf21 ENST00000456145 human ensembl 70_37 -1 known missense c.505 p.R169W 0.026 NULL NULL - no_errors C11orf21 HGNC ENSG00000110665 21 7 25.00 25 0 0.00 C11orf21 29125 genome.wustl.edu 37 11 2320859 2320859 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 2320859 2320859 G C SNP C11orf21 ENST00000456145 human ensembl 70_37 -1 known missense c.364 p.H122D 0.001 NULL NULL - no_errors C11orf21 HGNC ENSG00000110665 39 39 50.00 70 0 0.00 C11orf21 29125 genome.wustl.edu 37 11 2322040 2322040 + RNA SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 2322040 2322040 C G SNP C11orf21 ENST00000470369 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C11orf21 HGNC ENSG00000110665 12 18 60.00 31 0 0.00 C11orf24 53838 genome.wustl.edu 37 11 68031153 68031153 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 68031153 68031153 C T SNP C11orf24 ENST00000530166 human ensembl 70_37 -1 known rna NULL NULL 0.760 - - - no_errors C11orf24 HGNC ENSG00000171067 13 6 31.58 23 0 0.00 C11orf30 56946 genome.wustl.edu 37 11 76207494 76207494 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 76207494 76207494 C G SNP C11orf30 ENST00000334736 human ensembl 70_37 +1 known missense c.1344 p.I448M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 34 22 39.29 24 0 0.00 C11orf30 56946 genome.wustl.edu 37 11 76253261 76253261 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 76253261 76253261 C T SNP C11orf30 ENST00000334736 human ensembl 70_37 +1 known silent c.2559 p.V853 0.997 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 66 16 19.51 38 0 0.00 C11orf30 56946 genome.wustl.edu 37 11 76255554 76255554 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 76255554 76255554 C G SNP C11orf30 ENST00000334736 human ensembl 70_37 +1 known silent c.2961 p.L987 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 19 5 20.83 34 0 0.00 C11orf34 349633 genome.wustl.edu 37 11 112119581 112119581 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 112119581 112119581 G A SNP C11orf34 ENST00000338832 human ensembl 70_37 -1 known missense c.565 p.P189S 0.095 NULL NULL - no_errors C11orf34 HGNC ENSG00000188771 10 3 23.08 30 0 0.00 C11orf34 349633 genome.wustl.edu 37 11 112126250 112126250 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 112126250 112126250 C T SNP C11orf34 ENST00000338832 human ensembl 70_37 -1 known missense c.247 p.D83N 0.000 NULL NULL - no_errors C11orf34 HGNC ENSG00000188771 24 24 50.00 58 0 0.00 C11orf35 256329 genome.wustl.edu 37 11 556271 556271 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 556271 556271 T G SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known missense c.1178 p.K393T 0.976 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 12 6 33.33 17 0 0.00 C11orf35 256329 genome.wustl.edu 37 11 557577 557577 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 557577 557577 C A SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known missense c.619 p.G207W 0.122 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 45 5 10.00 43 0 0.00 C11orf35 256329 genome.wustl.edu 37 11 558613 558613 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 558613 558613 C T SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known splice_site c.311+1 e3+1 0.308 - - - no_errors C11orf35 HGNC ENSG00000185522 53 9 14.52 73 0 0.00 C11orf39 100507450 genome.wustl.edu 37 11 131530307 131530307 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 131530307 131530307 G A SNP C11orf39 ENST00000536853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C11orf39 HGNC ENSG00000255953 9 11 55.00 48 0 0.00 C11orf40 143501 genome.wustl.edu 37 11 4598948 4598948 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 4598948 4598948 C T SNP C11orf40 ENST00000307616 human ensembl 70_37 -1 known missense c.103 p.E35K 0.004 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 37 8 17.78 36 0 0.00 C11orf42 160298 genome.wustl.edu 37 11 6231275 6231275 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 6231275 6231275 G C SNP C11orf42 ENST00000316375 human ensembl 70_37 +1 known missense c.268 p.E90Q 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 13 12 48.00 27 0 0.00 C11orf48 79081 genome.wustl.edu 37 11 62430806 62430806 + Splice_Site SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 62430806 62430806 C A SNP C11orf48 ENST00000431002 human ensembl 70_37 -1 known splice_site c.742-1 e4-1 0.997 - - - no_errors C11orf48 HGNC ENSG00000162194 32 4 11.11 35 0 0.00 C11orf48 79081 genome.wustl.edu 37 11 62432618 62432618 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 62432618 62432618 G A SNP C11orf48 ENST00000524958 human ensembl 70_37 -1 putative silent c.24 p.I8 1.000 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 30 31 50.82 86 0 0.00 C11orf52 91894 genome.wustl.edu 37 11 111795061 111795061 + Nonsense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111795061 111795061 C G SNP C11orf52 ENST00000278601 human ensembl 70_37 +1 known nonsense c.44 p.S15* 0.759 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 20 15 42.86 23 0 0.00 C11orf52 91894 genome.wustl.edu 37 11 111795061 111795061 + Nonsense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111795061 111795061 C G SNP C11orf52 ENST00000278601 human ensembl 70_37 +1 known nonsense c.44 p.S15* 0.759 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 88 41 31.54 180 1 0.55 C11orf53 341032 genome.wustl.edu 37 11 111156759 111156759 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 111156759 111156759 G C SNP C11orf53 ENST00000280325 human ensembl 70_37 +1 known missense c.691 p.E231Q 1.000 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 26 8 23.53 29 0 0.00 C11orf54 28970 genome.wustl.edu 37 11 93487201 93487201 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 93487201 93487201 G C SNP C11orf54 ENST00000331239 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 34 7 17.07 31 0 0.00 C11orf57 55216 genome.wustl.edu 37 11 111948979 111948979 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 111948979 111948979 A C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.110 p.E37A 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 13 11 45.83 35 0 0.00 C11orf57 55216 genome.wustl.edu 37 11 111948979 111948979 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 111948979 111948979 A C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.110 p.E37A 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 42 26 38.24 43 0 0.00 C11orf57 55216 genome.wustl.edu 37 11 111951136 111951136 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111951136 111951136 G A SNP C11orf57 ENST00000524989 human ensembl 70_37 +1 known missense c.181 p.D61N 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 33 16 32.65 40 0 0.00 C11orf57 55216 genome.wustl.edu 37 11 111953676 111953676 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 111953676 111953676 G C SNP C11orf57 ENST00000393047 human ensembl 70_37 +1 known missense c.862 p.E288Q 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 14 14 50.00 14 0 0.00 C11orf63 79864 genome.wustl.edu 37 11 122756799 122756799 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 122756799 122756799 G A SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known missense c.242 p.R81Q 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 15 9 37.50 30 0 0.00 C11orf63 79864 genome.wustl.edu 37 11 122774915 122774915 + Silent SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 122774915 122774915 G T SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known silent c.627 p.P209 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 36 4 10.00 45 0 0.00 C11orf63 79864 genome.wustl.edu 37 11 122795698 122795698 + Nonsense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 11 122795698 122795698 C T SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known nonsense c.958 p.Q320* 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 51 6 10.53 47 0 0.00 C11orf63 79864 genome.wustl.edu 37 11 122805695 122805695 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 122805695 122805695 C G SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known missense c.1546 p.H516D 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 14 7 33.33 19 0 0.00 C11orf65 160140 genome.wustl.edu 37 11 108276164 108276164 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 108276164 108276164 C T SNP C11orf65 ENST00000393084 human ensembl 70_37 -1 known missense c.552 p.M184I 1.000 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 25 9 26.47 23 0 0.00 C11orf65 160140 genome.wustl.edu 37 11 108277614 108277614 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 108277614 108277614 C T SNP C11orf65 ENST00000393084 human ensembl 70_37 -1 known missense c.305 p.R102K 1.000 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 72 14 16.28 82 0 0.00 C11orf68 83638 genome.wustl.edu 37 11 65685220 65685220 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 65685220 65685220 G C SNP C11orf68 ENST00000438576 human ensembl 70_37 -1 known missense c.592 p.Q198E 0.953 pfam_DUF1917,superfamily_TIF_eIF4e-like_dom pfam_DUF1917,superfamily_TIF_eIF4e-like_dom - no_errors C11orf68 HGNC ENSG00000175573 37 27 42.19 50 0 0.00 C11orf80 79703 genome.wustl.edu 37 11 66512290 66512291 + In_Frame_Ins INS - - GGC TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 66512290 66512291 - GGC INS C11orf80 ENST00000360962 human ensembl 70_37 +1 known in_frame_ins c.77_78 p.30in_frame_insA 0.001:0.003 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 9 5 35.71 8 0 0.00 C11orf80 79703 genome.wustl.edu 37 11 66605850 66605850 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 66605850 66605850 G C SNP C11orf80 ENST00000360962 human ensembl 70_37 +1 known missense c.1681 p.E561Q 0.439 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 27 7 20.59 58 0 0.00 C11orf80 79703 genome.wustl.edu 37 11 66610676 66610676 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66610676 66610676 G A SNP C11orf80 ENST00000360962 human ensembl 70_37 +1 known missense c.2005 p.E669K 0.709 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 12 9 42.86 13 0 0.00 C11orf82 220042 genome.wustl.edu 37 11 82643346 82643346 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 82643346 82643346 G C SNP C11orf82 ENST00000430323 human ensembl 70_37 +1 known silent c.966 p.L322 0.001 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC ENSG00000165490 12 3 20.00 33 0 0.00 C11orf82 220042 genome.wustl.edu 37 11 82644096 82644096 + Silent SNP A A C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 82644096 82644096 A C SNP C11orf82 ENST00000430323 human ensembl 70_37 +1 known silent c.1716 p.L572 0.001 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC ENSG00000165490 24 6 20.00 35 0 0.00 C11orf82 220042 genome.wustl.edu 37 11 82644119 82644119 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 82644119 82644119 G T SNP C11orf82 ENST00000430323 human ensembl 70_37 +1 known missense c.1739 p.C580F 0.283 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC ENSG00000165490 25 4 13.79 48 0 0.00 C11orf84 144097 genome.wustl.edu 37 11 63585350 63585350 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 63585350 63585350 G A SNP C11orf84 ENST00000294244 human ensembl 70_37 +1 known silent c.201 p.P67 0.095 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 49 16 24.62 74 0 0.00 C11orf84 144097 genome.wustl.edu 37 11 63586438 63586438 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 63586438 63586438 G A SNP C11orf84 ENST00000294244 human ensembl 70_37 +1 known missense c.898 p.E300K 0.000 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 25 8 24.24 42 0 0.00 C11orf88 399949 genome.wustl.edu 37 11 111385666 111385666 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111385666 111385666 C T SNP C11orf88 ENST00000529167 human ensembl 70_37 +1 known nonsense c.157 p.Q53* 0.983 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 26 9 25.71 49 0 0.00 MYRF 745 genome.wustl.edu 37 11 61541448 61541448 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 61541448 61541448 C A SNP C11orf9 ENST00000278836 human ensembl 70_37 +1 known silent c.1125 p.L375 1.000 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 2 23 92.00 52 0 0.00 MYRF 745 genome.wustl.edu 37 11 61546342 61546342 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 61546342 61546342 G A SNP C11orf9 ENST00000327797 human ensembl 70_37 +1 known missense c.958 p.A320T 0.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 42 23 35.38 103 0 0.00 MYRF 745 genome.wustl.edu 37 11 61546883 61546883 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 61546883 61546883 C T SNP C11orf9 ENST00000278836 human ensembl 70_37 +1 known missense c.2162 p.S721L 0.996 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 53 10 15.87 90 0 0.00 C11orf93 120376 genome.wustl.edu 37 11 111177315 111177315 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111177315 111177315 C T SNP C11orf93 ENST00000398035 human ensembl 70_37 +1 known silent c.63 p.F21 0.619 NULL NULL - no_errors C11orf93 HGNC ENSG00000214290 24 20 45.45 41 0 0.00 C11orf93 120376 genome.wustl.edu 37 11 111179048 111179048 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111179048 111179048 C T SNP C11orf93 ENST00000398035 human ensembl 70_37 +1 known silent c.351 p.L117 0.003 NULL NULL - no_errors C11orf93 HGNC ENSG00000214290 15 8 34.78 24 0 0.00 C12orf10 60314 genome.wustl.edu 37 12 53694044 53694044 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 53694044 53694044 G C SNP C12orf10 ENST00000267103 human ensembl 70_37 +1 novel missense c.327 p.Q109H 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 29 11 27.50 39 0 0.00 MYRFL 196446 genome.wustl.edu 37 12 70284768 70284768 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 70284768 70284768 G C SNP C12orf28 ENST00000547771 human ensembl 70_37 +1 known missense c.725 p.R242P 0.922 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C12orf28 HGNC ENSG00000166268 57 63 52.50 68 0 0.00 MYRFL 196446 genome.wustl.edu 37 12 70284779 70284779 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 70284779 70284779 G C SNP C12orf28 ENST00000547771 human ensembl 70_37 +1 known missense c.736 p.D246H 1.000 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C12orf28 HGNC ENSG00000166268 56 60 51.72 68 0 0.00 C12orf36 283422 genome.wustl.edu 37 12 13526193 13526193 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13526193 13526193 T G SNP C12orf36 ENST00000318426 human ensembl 70_37 -1 known missense c.362 p.K121T 0.003 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 21 16 43.24 58 0 0.00 C12orf39 80763 genome.wustl.edu 37 12 21684079 21684079 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21684079 21684079 A C SNP C12orf39 ENST00000256969 human ensembl 70_37 +1 known missense c.301 p.K101Q 0.837 NULL NULL - no_errors C12orf39 HGNC ENSG00000134548 7 10 58.82 27 0 0.00 C12orf4 57102 genome.wustl.edu 37 12 4627253 4627253 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 4627253 4627253 C T SNP C12orf4 ENST00000261250 human ensembl 70_37 -1 known missense c.1004 p.R335Q 1.000 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 24 12 33.33 42 0 0.00 C12orf40 283461 genome.wustl.edu 37 12 40040240 40040240 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 40040240 40040240 C G SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known silent c.312 p.L104 0.613 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 235 40 14.55 307 0 0.00 C12orf40 283461 genome.wustl.edu 37 12 40076812 40076812 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 40076812 40076812 G C SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known missense c.1086 p.L362F 0.003 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 3 19 86.36 30 0 0.00 C12orf40 283461 genome.wustl.edu 37 12 40114701 40114701 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 40114701 40114701 C T SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known missense c.1607 p.S536L 0.001 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 13 7 35.00 24 0 0.00 C12orf42 374470 genome.wustl.edu 37 12 103696206 103696206 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696206 103696206 G A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 7 24 77.42 30 0 0.00 C12orf42 374470 genome.wustl.edu 37 12 103696275 103696275 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696275 103696275 G C SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.694 p.L232V 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 6 14 70.00 22 0 0.00 C12orf42 374470 genome.wustl.edu 37 12 103696329 103696329 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 103696329 103696329 C T SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.640 p.A214T 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 39 6 13.33 42 0 0.00 C12orf42 374470 genome.wustl.edu 37 12 103696334 103696334 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696334 103696334 G A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.635 p.S212F 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 8 15 65.22 24 0 0.00 C12orf42 374470 genome.wustl.edu 37 12 103872172 103872172 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 103872172 103872172 T A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.33 p.E11D 0.003 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 30 12 22.64 35 0 0.00 C12orf43 64897 genome.wustl.edu 37 12 121444193 121444193 + Missense_Mutation SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 121444193 121444193 T A SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.292 p.I98F 1.000 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 59 16 21.33 76 0 0.00 C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 121454196 121454196 C G SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.999 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 61 22 26.51 108 0 0.00 C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 121454196 121454196 C G SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.999 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 38 24 38.71 55 0 0.00 C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 121454196 121454196 C T SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28K 0.999 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 25 21 45.65 63 0 0.00 C12orf44 60673 genome.wustl.edu 37 12 52470838 52470838 + Missense_Mutation SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 52470838 52470838 T C SNP C12orf44 ENST00000336854 human ensembl 70_37 +1 known missense c.521 p.V174A 1.000 NULL pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 41 14 25.45 52 0 0.00 C12orf45 121053 genome.wustl.edu 37 12 105382013 105382013 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105382013 105382013 C T SNP C12orf45 ENST00000552951 human ensembl 70_37 +1 known missense c.184 p.R62W 0.996 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 22 18 45.00 59 0 0.00 C12orf45 121053 genome.wustl.edu 37 12 105388413 105388413 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 105388413 105388413 C T SNP C12orf45 ENST00000552951 human ensembl 70_37 +1 known missense c.497 p.S166F 0.920 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 20 4 16.67 35 0 0.00 C12orf49 79794 genome.wustl.edu 37 12 117175742 117175742 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 117175742 117175742 G C SNP C12orf49 ENST00000536380 human ensembl 70_37 -1 known missense c.31 p.P11A 0.023 NULL pfam_UPF0454 - no_errors C12orf49 HGNC ENSG00000111412 17 4 19.05 16 0 0.00 C12orf5 57103 genome.wustl.edu 37 12 4459046 4459046 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 4459046 4459046 C G SNP C12orf5 ENST00000179259 human ensembl 70_37 +1 known nonsense c.254 p.S85* 0.325 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 13 6 31.58 35 0 0.00 C12orf50 160419 genome.wustl.edu 37 12 88381726 88381726 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 88381726 88381726 G A SNP C12orf50 ENST00000298699 human ensembl 70_37 -1 known missense c.718 p.H240Y 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 64 9 12.33 68 0 0.00 C12orf52 84934 genome.wustl.edu 37 12 113624747 113624747 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 113624747 113624747 G A SNP C12orf52 ENST00000436053 human ensembl 70_37 +1 known missense c.196 p.V66M 0.000 NULL NULL - no_errors C12orf52 HGNC ENSG00000139405 26 13 33.33 27 0 0.00 C12orf52 84934 genome.wustl.edu 37 12 113629176 113629176 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 113629176 113629176 G A SNP C12orf52 ENST00000436053 human ensembl 70_37 +1 known missense c.364 p.A122T 0.000 NULL NULL - no_errors C12orf52 HGNC ENSG00000139405 42 12 22.22 60 0 0.00 C12orf54 121273 genome.wustl.edu 37 12 48881835 48881835 + RNA SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 48881835 48881835 G T SNP C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C12orf54 HGNC ENSG00000177627 14 10 41.67 33 0 0.00 C12orf54 121273 genome.wustl.edu 37 12 48882264 48882265 + RNA INS - - A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 48882264 48882265 - A INS C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 0.096:0.084 - - - no_errors C12orf54 HGNC ENSG00000177627 8 7 46.67 9 0 0.00 C12orf54 121273 genome.wustl.edu 37 12 48882278 48882279 + RNA INS - - AC TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 48882278 48882279 - AC INS C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 0.033:0.007 - - - no_errors C12orf54 HGNC ENSG00000177627 14 8 36.36 9 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97051825 97051825 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 97051825 97051825 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.541 p.Q181E 1.000 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 40 23 36.51 72 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97073515 97073515 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 97073515 97073515 C T SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.976 p.L326F 0.998 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 14 10 41.67 21 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97084972 97084972 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 97084972 97084972 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1423 p.Q475E 0.918 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 74 12 13.95 65 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97087524 97087524 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 97087524 97087524 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1564 p.Q522E 1.000 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 85 12 12.37 145 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97102431 97102431 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97102431 97102431 A G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1849 p.T617A 0.003 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 15 5 25.00 35 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97112265 97112265 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97112265 97112265 A C SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.2044 p.K682Q 0.003 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 13 3 18.75 20 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97137268 97137268 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 97137268 97137268 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.2583 p.F861L 0.953 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 27 13 32.50 33 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97147670 97147670 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 97147670 97147670 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.3109 p.Q1037E 1.000 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 20 9 31.03 25 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97150283 97150283 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 97150283 97150283 C T SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known nonsense c.3163 p.Q1055* 0.000 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 45 10 18.18 58 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97180502 97180502 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 97180502 97180502 C T SNP C12orf55 ENST00000524981 human ensembl 70_37 +1 novel silent c.8505 p.L2835 0.974 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 43 17 27.42 51 0 0.00 C12orf55 144535 genome.wustl.edu 37 12 97180567 97180567 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97180567 97180567 T G SNP C12orf55 ENST00000524981 human ensembl 70_37 +1 novel missense c.8570 p.F2857C 0.198 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 23 15 39.47 65 0 0.00 C12orf56 115749 genome.wustl.edu 37 12 64664437 64664437 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 64664437 64664437 G C SNP C12orf56 ENST00000333722 human ensembl 70_37 -1 known missense c.1162 p.Q388E 0.777 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 8 15 65.22 48 0 0.00 C12orf56 115749 genome.wustl.edu 37 12 64706454 64706454 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 64706454 64706454 C T SNP C12orf56 ENST00000543942 human ensembl 70_37 -1 putative silent c.969 p.K323 0.898 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 35 12 25.53 39 0 0.00 C12orf56 115749 genome.wustl.edu 37 12 64712509 64712509 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 64712509 64712509 C G SNP C12orf56 ENST00000543942 human ensembl 70_37 -1 putative missense c.740 p.G247A 0.181 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 43 38 46.91 62 0 0.00 C12orf57 113246 genome.wustl.edu 37 12 7052786 7052786 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 7052786 7052786 G A SNP C12orf57 ENST00000542222 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors C12orf57 HGNC ENSG00000111678 13 5 27.78 23 0 0.00 C12orf60 144608 genome.wustl.edu 37 12 14975933 14975933 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 14975933 14975933 C T SNP C12orf60 ENST00000330828 human ensembl 70_37 +1 known missense c.64 p.H22Y 0.008 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 21 14 40.00 27 0 0.00 C12orf61 283416 genome.wustl.edu 37 12 62996860 62996860 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 62996860 62996860 C T SNP C12orf61 ENST00000408887 human ensembl 70_37 -1 known missense c.259 p.E87K 0.000 NULL NULL - no_errors C12orf61 HGNC ENSG00000221949 18 10 35.71 19 0 0.00 C12orf66 144577 genome.wustl.edu 37 12 64609553 64609553 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 64609553 64609553 G T SNP C12orf66 ENST00000398055 human ensembl 70_37 -1 known missense c.426 p.F142L 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 25 20 44.44 71 0 0.00 C12orf68 387856 genome.wustl.edu 37 12 48578079 48578079 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 48578079 48578079 G C SNP C12orf68 ENST00000316554 human ensembl 70_37 +1 known silent c.174 p.V58 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 45 26 36.62 82 0 0.00 C12orf68 387856 genome.wustl.edu 37 12 48578442 48578442 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 48578442 48578442 C T SNP C12orf68 ENST00000316554 human ensembl 70_37 +1 known silent c.537 p.D179 0.794 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 43 9 17.31 48 0 0.00 SMCO2 341346 genome.wustl.edu 37 12 27628604 27628604 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 27628604 27628604 G A SNP C12orf70 ENST00000416383 human ensembl 70_37 +1 known missense c.452 p.G151E 0.059 NULL NULL - no_errors C12orf70 HGNC ENSG00000165935 28 10 26.32 35 0 0.00 SMCO2 341346 genome.wustl.edu 37 12 27648695 27648695 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 27648695 27648695 C T SNP C12orf70 ENST00000416383 human ensembl 70_37 +1 known missense c.740 p.S247F 0.007 NULL NULL - no_errors C12orf70 HGNC ENSG00000165935 29 7 19.44 28 0 0.00 C12orf71 728858 genome.wustl.edu 37 12 27235002 27235002 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 27235002 27235002 G C SNP C12orf71 ENST00000429849 human ensembl 70_37 -1 known missense c.415 p.Q139E 0.013 NULL NULL - no_errors C12orf71 HGNC ENSG00000214700 10 4 28.57 16 0 0.00 C12orf76 400073 genome.wustl.edu 37 12 110488822 110488822 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110488822 110488822 C A SNP C12orf76 ENST00000548191 human ensembl 70_37 -1 putative missense c.289 p.D97Y 0.717 pfam_P2X_purnocptor pfam_P2X_purnocptor - no_errors C12orf76 HGNC ENSG00000174456 15 5 25.00 22 0 0.00 C12orf77 196415 genome.wustl.edu 37 12 25149177 25149177 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 25149177 25149177 C G SNP C12orf77 ENST00000549828 human ensembl 70_37 -1 known missense c.100 p.D34H 1.000 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 31 20 39.22 49 0 0.00 C12orf77 196415 genome.wustl.edu 37 12 25149195 25149195 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 25149195 25149195 G C SNP C12orf77 ENST00000549828 human ensembl 70_37 -1 known missense c.82 p.Q28E 1.000 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 27 16 37.21 59 0 0.00 C13orf45 729420 genome.wustl.edu 37 13 76447803 76447803 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 76447803 76447803 C T SNP C13orf45 ENST00000318245 human ensembl 70_37 +1 known missense c.128 p.S43L 0.000 NULL NULL - no_errors C13orf45 HGNC ENSG00000178734 70 16 18.60 47 0 0.00 TMEM260 54916 genome.wustl.edu 37 14 57088329 57088329 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 57088329 57088329 T C SNP C14orf101 ENST00000261556 human ensembl 70_37 +1 known missense c.1307 p.I436T 1.000 NULL pfam_DUF2723 - no_errors C14orf101 HGNC ENSG00000070269 34 7 17.07 37 0 0.00 C14orf105 55195 genome.wustl.edu 37 14 57938127 57938127 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 57938127 57938127 C T SNP C14orf105 ENST00000216445 human ensembl 70_37 -1 known silent c.837 p.V279 1.000 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 91 48 34.53 162 0 0.00 C14orf132 56967 genome.wustl.edu 37 14 96553071 96553071 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96553071 96553071 G A SNP C14orf132 ENST00000553764 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors C14orf132 HGNC ENSG00000227051 13 7 35.00 37 0 0.00 C14orf159 80017 genome.wustl.edu 37 14 91634013 91634013 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 91634013 91634013 G A SNP C14orf159 ENST00000298858 human ensembl 70_37 +1 known missense c.458 p.R153K 0.056 NULL NULL - no_errors C14orf159 HGNC ENSG00000133943 12 17 58.62 27 0 0.00 C14orf159 80017 genome.wustl.edu 37 14 91671151 91671151 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 91671151 91671151 G A SNP C14orf159 ENST00000256324 human ensembl 70_37 +1 known missense c.1546 p.D516N 1.000 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 63 29 31.52 96 0 0.00 C14orf159 80017 genome.wustl.edu 37 14 91681877 91681877 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91681877 91681877 C G SNP C14orf159 ENST00000256324 human ensembl 70_37 +1 known missense c.1693 p.Q565E 0.008 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 78 24 23.30 137 0 0.00 C14orf164 100507650 genome.wustl.edu 37 14 23733863 23733863 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 14 23733863 23733863 C T SNP C14orf164 ENST00000430154 human ensembl 70_37 +1 known missense c.617 p.P206L 1.000 NULL NULL - no_errors C14orf164 HGNC ENSG00000215277 15 15 50.00 22 0 0.00 C14orf166 51637 genome.wustl.edu 37 14 52458093 52458093 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 52458093 52458093 C G SNP C14orf166 ENST00000261700 human ensembl 70_37 +1 known nonsense c.120 p.Y40* 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 31 15 32.61 55 0 0.00 C14orf166 51637 genome.wustl.edu 37 14 52466482 52466482 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 52466482 52466482 C T SNP C14orf166 ENST00000261700 human ensembl 70_37 +1 known nonsense c.430 p.Q144* 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 87 32 26.89 161 0 0.00 C14orf166B 145497 genome.wustl.edu 37 14 77294855 77294855 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 77294855 77294855 G A SNP C14orf166B ENST00000216453 human ensembl 70_37 +1 known missense c.181 p.E61K 0.003 NULL NULL - no_errors C14orf166B HGNC ENSG00000100565 8 5 38.46 19 0 0.00 C14orf166B 145497 genome.wustl.edu 37 14 77319573 77319573 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 77319573 77319573 G A SNP C14orf166B ENST00000393774 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 24 28 53.85 31 0 0.00 C14orf166B 145497 genome.wustl.edu 37 14 77319573 77319573 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 77319573 77319573 G A SNP C14orf166B ENST00000393774 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 76 85 52.15 154 0 0.00 C14orf169 79697 genome.wustl.edu 37 14 73957911 73957911 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73957911 73957911 G C SNP C14orf169 ENST00000531973 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C14orf169 HGNC ENSG00000255242 32 19 37.25 35 0 0.00 C14orf169 79697 genome.wustl.edu 37 14 73959863 73959864 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 73959863 73959864 - A INS C14orf169 ENST00000531973 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 45 8 15.09 52 0 0.00 C14orf182 283551 genome.wustl.edu 37 14 50470652 50470652 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 50470652 50470652 C T SNP C14orf182 ENST00000529902 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors C14orf182 HGNC ENSG00000214900 5 5 50.00 8 0 0.00 C14orf182 283551 genome.wustl.edu 37 14 50472203 50472203 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50472203 50472203 G A SNP C14orf182 ENST00000529902 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors C14orf182 HGNC ENSG00000214900 21 6 22.22 17 0 0.00 C14orf183 196913 genome.wustl.edu 37 14 50550713 50550713 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 50550713 50550713 C T SNP C14orf183 ENST00000305273 human ensembl 70_37 -1 novel missense c.631 p.E211K 0.000 NULL NULL - no_errors C14orf183 HGNC ENSG00000168260 31 11 26.19 31 0 0.00 C14orf183 196913 genome.wustl.edu 37 14 50558407 50558407 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 50558407 50558407 C A SNP C14orf183 ENST00000305273 human ensembl 70_37 -1 novel missense c.161 p.G54V 0.005 NULL NULL - no_errors C14orf183 HGNC ENSG00000168260 28 4 12.50 31 0 0.00 C14orf2 9556 genome.wustl.edu 37 14 104380302 104380302 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 104380302 104380302 C T SNP C14orf2 ENST00000414262 human ensembl 70_37 -1 known silent c.195 p.L65 0.905 pfam_Mit_proteolip pfam_Mit_proteolip - no_errors C14orf2 HGNC ENSG00000156411 25 14 35.90 53 0 0.00 C14orf23 387978 genome.wustl.edu 37 14 29261122 29261122 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 29261122 29261122 G A SNP C14orf23 ENST00000399387 human ensembl 70_37 +1 known missense c.159 p.M53I 0.002 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 27 18 40.00 45 0 0.00 C14orf28 122525 genome.wustl.edu 37 14 45372445 45372445 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 45372445 45372445 G C SNP C14orf28 ENST00000325192 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 49 6 10.91 67 0 0.00 C14orf28 122525 genome.wustl.edu 37 14 45373686 45373686 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 45373686 45373686 G A SNP C14orf28 ENST00000325192 human ensembl 70_37 +1 known missense c.703 p.E235K 1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 67 27 28.72 101 0 0.00 C14orf37 145407 genome.wustl.edu 37 14 58604809 58604809 + Missense_Mutation SNP T T A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 58604809 58604809 T A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.1268 p.E423V 0.002 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 36 10 21.74 56 0 0.00 C14orf37 145407 genome.wustl.edu 37 14 58605625 58605625 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58605625 58605625 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.452 p.A151V 0.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 18 7 28.00 36 0 0.00 C14orf37 145407 genome.wustl.edu 37 14 58605832 58605832 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 58605832 58605832 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.245 p.S82L 0.263 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 79 48 37.50 148 0 0.00 C14orf37 145407 genome.wustl.edu 37 14 58605892 58605892 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 58605892 58605892 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.185 p.S62L 0.969 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 59 57 49.14 142 0 0.00 C14orf39 317761 genome.wustl.edu 37 14 60921816 60921816 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 60921816 60921816 G C SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.1406 p.S469C 0.993 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 7 13 65.00 14 0 0.00 C14orf39 317761 genome.wustl.edu 37 14 60933701 60933701 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 60933701 60933701 G A SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.829 p.L277F 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 18 2 10.00 79 0 0.00 C14orf39 317761 genome.wustl.edu 37 14 60945022 60945022 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 60945022 60945022 C G SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.319 p.D107H 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 59 10 14.49 64 0 0.00 C14orf39 317761 genome.wustl.edu 37 14 60945082 60945082 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 60945082 60945082 G A SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.259 p.R87C 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 126 24 15.89 117 0 0.00 C14orf79 122616 genome.wustl.edu 37 14 105452872 105452872 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 105452872 105452872 G C SNP C14orf79 ENST00000547315 human ensembl 70_37 +1 known missense c.104 p.S35T 0.000 NULL NULL - no_errors C14orf79 HGNC ENSG00000140104 36 17 32.08 44 0 0.00 C14orf79 122616 genome.wustl.edu 37 14 105476633 105476633 + RNA SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 14 105476633 105476633 G T SNP C14orf79 ENST00000548178 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf79 HGNC ENSG00000140104 12 10 45.45 33 0 0.00 C14orf80 283643 genome.wustl.edu 37 14 105963729 105963729 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105963729 105963729 G A SNP C14orf80 ENST00000392523 human ensembl 70_37 +1 known silent c.927 p.L309 0.942 NULL NULL - no_errors C14orf80 HGNC ENSG00000185347 83 50 37.31 74 0 0.00 C14orf93 60686 genome.wustl.edu 37 14 23467813 23467813 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 23467813 23467813 G A SNP C14orf93 ENST00000299088 human ensembl 70_37 -1 known silent c.420 p.A140 0.002 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 30 8 21.05 47 0 0.00 C14orf93 60686 genome.wustl.edu 37 14 23467958 23467958 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 23467958 23467958 C T SNP C14orf93 ENST00000299088 human ensembl 70_37 -1 known missense c.275 p.R92H 0.880 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 66 52 44.07 91 0 0.00 C15orf40 123207 genome.wustl.edu 37 15 83680348 83680348 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 83680348 83680348 G A SNP C15orf40 ENST00000451195 human ensembl 70_37 -1 known silent c.12 p.L4 0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 10 7 41.18 12 0 0.00 C15orf40 123207 genome.wustl.edu 37 15 83680351 83680351 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 83680351 83680351 C T SNP C15orf40 ENST00000451195 human ensembl 70_37 -1 known silent c.9 p.R3 0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 11 9 45.00 29 0 0.00 C15orf41 84529 genome.wustl.edu 37 15 37001438 37001438 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 15 37001438 37001438 C T SNP C15orf41 ENST00000437989 human ensembl 70_37 +1 known missense c.559 p.R187C 1.000 NULL NULL - no_errors C15orf41 HGNC ENSG00000186073 31 4 11.43 28 0 0.00 C15orf41 84529 genome.wustl.edu 37 15 37002110 37002110 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 37002110 37002110 G A SNP C15orf41 ENST00000437989 human ensembl 70_37 +1 known missense c.664 p.E222K 1.000 NULL NULL - no_errors C15orf41 HGNC ENSG00000186073 26 12 31.58 153 0 0.00 C15orf43 145645 genome.wustl.edu 37 15 45250686 45250686 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 45250686 45250686 C A SNP C15orf43 ENST00000340827 human ensembl 70_37 +1 known missense c.262 p.L88I 0.997 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 57 16 21.92 63 0 0.00 C15orf52 388115 genome.wustl.edu 37 15 40627575 40627575 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40627575 40627575 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.1389 p.W463C 0.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 13 5 27.78 15 0 0.00 C15orf52 388115 genome.wustl.edu 37 15 40627604 40627604 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40627604 40627604 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.1360 p.E454Q 0.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 11 7 38.89 14 0 0.00 C15orf52 388115 genome.wustl.edu 37 15 40632180 40632180 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 40632180 40632180 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.181 p.E61Q 0.999 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 16 6 27.27 24 0 0.00 C15orf52 388115 genome.wustl.edu 37 15 40633048 40633048 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40633048 40633048 A G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known silent c.105 p.S35 1.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 37 17 31.48 41 0 0.00 C15orf52 388115 genome.wustl.edu 37 15 40633088 40633088 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40633088 40633088 G A SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.65 p.A22V 0.927 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 21 10 29.41 34 0 0.00 NUTM1 256646 genome.wustl.edu 37 15 34640436 34640436 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 15 34640436 34640436 G C SNP C15orf55 ENST00000333756 human ensembl 70_37 +1 known missense c.283 p.E95Q 0.928 NULL NULL - no_errors C15orf55 HGNC ENSG00000184507 35 5 12.50 37 0 0.00 C15orf56 644809 genome.wustl.edu 37 15 40544515 40544515 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40544515 40544515 G T SNP C15orf56 ENST00000319503 human ensembl 70_37 -1 known missense c.457 p.R153S 0.000 NULL NULL - no_errors C15orf56 HGNC ENSG00000176753 7 5 41.67 8 0 0.00 C15orf56 644809 genome.wustl.edu 37 15 40544784 40544784 + Silent SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 40544784 40544784 C A SNP C15orf56 ENST00000559727 human ensembl 70_37 -1 putative silent c.306 p.T102 0.020 NULL NULL - no_errors C15orf56 HGNC ENSG00000176753 20 9 31.03 14 0 0.00 C15orf59 388135 genome.wustl.edu 37 15 74032525 74032525 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 74032525 74032525 G A SNP C15orf59 ENST00000379822 human ensembl 70_37 -1 known silent c.615 p.D205 0.000 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 40 10 19.61 45 0 0.00 C15orf62 643338 genome.wustl.edu 37 15 41062838 41062838 + Nonsense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 41062838 41062838 C T SNP C15orf62 ENST00000344320 human ensembl 70_37 +1 known nonsense c.145 p.R49* 0.988 NULL NULL - no_errors C15orf62 HGNC ENSG00000188277 50 54 51.92 97 0 0.00 C16orf13 84326 genome.wustl.edu 37 16 684553 684553 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 684553 684553 G C SNP C16orf13 ENST00000397666 human ensembl 70_37 -1 known silent c.591 p.L197 0.000 NULL pfam_DUF938 - no_errors C16orf13 HGNC ENSG00000130731 118 35 22.88 108 0 0.00 C16orf13 84326 genome.wustl.edu 37 16 684612 684612 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 684612 684612 G C SNP C16orf13 ENST00000397666 human ensembl 70_37 -1 known missense c.532 p.L178V 0.997 NULL pfam_DUF938 - no_errors C16orf13 HGNC ENSG00000130731 92 15 14.02 103 0 0.00 C16orf3 750 genome.wustl.edu 37 16 90095558 90095558 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 90095558 90095558 C T SNP C16orf3 ENST00000408886 human ensembl 70_37 -1 known missense c.193 p.G65S 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 127 18 12.33 54 0 0.00 C16orf3 750 genome.wustl.edu 37 16 90095558 90095558 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 90095558 90095558 C T SNP C16orf3 ENST00000408886 human ensembl 70_37 -1 known missense c.193 p.G65S 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 52 6 10.34 44 0 0.00 C16orf45 89927 genome.wustl.edu 37 16 15675126 15675126 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 15675126 15675126 G T SNP C16orf45 ENST00000300006 human ensembl 70_37 +1 known missense c.357 p.K119N 1.000 pfam_DUF3585 pfam_DUF3585 - no_errors C16orf45 HGNC ENSG00000166780 54 19 26.03 64 0 0.00 C16orf54 283897 genome.wustl.edu 37 16 29755964 29755964 + Silent SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29755964 29755964 C G SNP C16orf54 ENST00000329410 human ensembl 70_37 -1 known silent c.309 p.L103 0.178 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 11 4 26.67 19 0 0.00 SPATA33 124045 genome.wustl.edu 37 16 89724711 89724711 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89724711 89724711 G A SNP C16orf55 ENST00000579310 human ensembl 70_37 +1 known silent c.93 p.L31 0.000 NULL NULL - no_errors C16orf55 HGNC ENSG00000167523 44 21 32.31 87 0 0.00 C16orf59 80178 genome.wustl.edu 37 16 2514077 2514077 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 2514077 2514077 G A SNP C16orf59 ENST00000361837 human ensembl 70_37 +1 known silent c.1002 p.G334 0.000 NULL NULL - no_errors C16orf59 HGNC ENSG00000162062 49 13 20.97 40 0 0.00 C16orf62 57020 genome.wustl.edu 37 16 19584549 19584549 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 19584549 19584549 G A SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known missense c.661 p.E221K 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 38 20 34.48 42 0 0.00 C16orf62 57020 genome.wustl.edu 37 16 19639018 19639018 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 19639018 19639018 C T SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known missense c.1541 p.A514V 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 36 7 16.28 64 0 0.00 C16orf62 57020 genome.wustl.edu 37 16 19644446 19644446 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 19644446 19644446 C T SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known silent c.1854 p.V618 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 64 12 15.79 102 0 0.00 C16orf70 80262 genome.wustl.edu 37 16 67179511 67179511 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67179511 67179511 G A SNP C16orf70 ENST00000219139 human ensembl 70_37 +1 known silent c.1089 p.E363 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 80 10 10.99 96 0 0.00 C16orf71 146562 genome.wustl.edu 37 16 4786568 4786568 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4786568 4786568 C T SNP C16orf71 ENST00000299320 human ensembl 70_37 +1 known missense c.53 p.S18F 0.076 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 18 14 43.75 41 0 0.00 C16orf72 29035 genome.wustl.edu 37 16 9196861 9196861 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 9196861 9196861 C T SNP C16orf72 ENST00000327827 human ensembl 70_37 +1 known nonsense c.328 p.R110* 1.000 NULL NULL - no_errors C16orf72 HGNC ENSG00000182831 9 3 25.00 15 0 0.00 C16orf74 404550 genome.wustl.edu 37 16 85743872 85743872 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 85743872 85743872 C T SNP C16orf74 ENST00000284245 human ensembl 70_37 -1 known missense c.70 p.E24K 0.972 NULL NULL - no_errors C16orf74 HGNC ENSG00000154102 13 6 31.58 18 0 0.00 C16orf78 123970 genome.wustl.edu 37 16 49433075 49433075 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 49433075 49433075 C A SNP C16orf78 ENST00000299191 human ensembl 70_37 +1 known silent c.684 p.T228 0.999 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 32 21 39.62 71 0 0.00 C16orf78 123970 genome.wustl.edu 37 16 49433132 49433132 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 49433132 49433132 C G SNP C16orf78 ENST00000299191 human ensembl 70_37 +1 known silent c.741 p.V247 0.000 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 82 28 25.45 141 0 0.00 C16orf80 29105 genome.wustl.edu 37 16 58149340 58149340 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 58149340 58149340 G A SNP C16orf80 ENST00000262498 human ensembl 70_37 -1 known missense c.298 p.R100C 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 68 24 26.09 74 0 0.00 C16orf82 162083 genome.wustl.edu 37 16 27079143 27079143 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27079143 27079143 G A SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C16orf82 HGNC ENSG00000234186 19 3 13.64 26 0 0.00 C16orf82 162083 genome.wustl.edu 37 16 27079378 27079378 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27079378 27079378 G C SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 29 24 45.28 45 0 0.00 C16orf82 162083 genome.wustl.edu 37 16 27079690 27079690 + RNA SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 27079690 27079690 C G SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 16 5 23.81 15 0 0.00 C16orf82 162083 genome.wustl.edu 37 16 27080038 27080038 + RNA DEL T T - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 27080038 27080038 T - DEL C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 3 3 50.00 11 0 0.00 C16orf86 388284 genome.wustl.edu 37 16 67700945 67700945 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 67700945 67700945 G A SNP C16orf86 ENST00000403458 human ensembl 70_37 +1 known silent c.72 p.T24 0.000 NULL NULL - no_errors C16orf86 HGNC ENSG00000159761 27 19 41.30 38 0 0.00 KNOP1 400506 genome.wustl.edu 37 16 19725832 19725832 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 19725832 19725832 C A SNP C16orf88 ENST00000219837 human ensembl 70_37 -1 known nonsense c.526 p.E176* 0.020 NULL NULL - no_errors C16orf88 HGNC ENSG00000103550 30 18 37.50 69 0 0.00 C16orf89 146556 genome.wustl.edu 37 16 5115922 5115922 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 5115922 5115922 C T SNP C16orf89 ENST00000350219 human ensembl 70_37 -1 known silent c.102 p.E34 0.000 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 28 14 33.33 26 0 0.00 C16orf89 146556 genome.wustl.edu 37 16 5115993 5115993 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 5115993 5115993 C A SNP C16orf89 ENST00000350219 human ensembl 70_37 -1 known missense c.31 p.G11W 0.006 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 36 4 10.00 56 0 0.00 C16orf90 646174 genome.wustl.edu 37 16 3544593 3544593 + Missense_Mutation SNP C C A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 3544593 3544593 C A SNP C16orf90 ENST00000437192 human ensembl 70_37 -1 known missense c.331 p.G111C 0.978 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 78 11 12.36 105 0 0.00 C16orf90 646174 genome.wustl.edu 37 16 3544829 3544829 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 3544829 3544829 G A SNP C16orf90 ENST00000437192 human ensembl 70_37 -1 known missense c.95 p.P32L 0.985 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 7 8 53.33 10 0 0.00 C16orf91 283951 genome.wustl.edu 37 16 1470076 1470076 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 1470076 1470076 G A SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known silent c.939 p.L313 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 24 8 25.00 31 0 0.00 C16orf91 283951 genome.wustl.edu 37 16 1470199 1470199 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 16 1470199 1470199 G T SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known missense c.816 p.F272L 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 27 10 27.03 39 0 0.00 C16orf91 283951 genome.wustl.edu 37 16 1470400 1470400 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 1470400 1470400 G C SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known silent c.717 p.L239 0.000 prints_CCSMST1 prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 30 18 37.50 40 0 0.00 C16orf91 283951 genome.wustl.edu 37 16 1470551 1470551 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1470551 1470551 G A SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known missense c.566 p.S189F 0.014 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 36 13 26.53 72 0 0.00 C16orf95 100506581 genome.wustl.edu 37 16 87336584 87336584 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 87336584 87336584 C T SNP C16orf95 ENST00000564821 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors C16orf95 HGNC ENSG00000260456 32 18 36.00 37 0 0.00 C16orf95 100506581 genome.wustl.edu 37 16 87339346 87339346 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 87339346 87339346 G A SNP C16orf95 ENST00000567970 human ensembl 70_37 -1 known missense c.680 p.P227L 0.183 NULL NULL - no_errors C16orf95 HGNC ENSG00000260456 48 48 50.00 70 0 0.00 C16orf95 100506581 genome.wustl.edu 37 16 87349385 87349385 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 87349385 87349385 C T SNP C16orf95 ENST00000567970 human ensembl 70_37 -1 known missense c.197 p.R66H 0.000 NULL NULL - no_errors C16orf95 HGNC ENSG00000260456 66 20 23.26 101 0 0.00 C16orf96 342346 genome.wustl.edu 37 16 4606764 4606764 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 4606764 4606764 G A SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known missense c.274 p.E92K 0.791 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 28 6 17.65 22 0 0.00 C16orf96 342346 genome.wustl.edu 37 16 4625056 4625056 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 4625056 4625056 C T SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known silent c.690 p.T230 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 9 8 47.06 15 0 0.00 C16orf96 342346 genome.wustl.edu 37 16 4641742 4641742 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 4641742 4641742 G C SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known missense c.2668 p.E890Q 0.144 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 66 11 14.29 56 0 0.00 C17orf102 400591 genome.wustl.edu 37 17 32904615 32904615 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 32904615 32904615 G C SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known missense c.435 p.I145M 0.000 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 47 18 27.69 48 0 0.00 C17orf102 400591 genome.wustl.edu 37 17 32904624 32904624 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 32904624 32904624 G A SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known silent c.426 p.I142 0.000 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 60 25 29.41 98 0 0.00 C17orf102 400591 genome.wustl.edu 37 17 32906120 32906120 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 32906120 32906120 G A SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known silent c.180 p.C60 0.952 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 21 4 16.00 57 0 0.00 C17orf104 284071 genome.wustl.edu 37 17 42755659 42755659 + RNA DEL A A - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 17 42755659 42755659 A - DEL C17orf104 ENST00000588805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf104 HGNC ENSG00000180336 8 4 33.33 8 0 0.00 C17orf105 284067 genome.wustl.edu 37 17 41857845 41857845 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 41857845 41857845 G T SNP C17orf105 ENST00000449302 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL NULL - no_errors C17orf105 HGNC ENSG00000231256 33 4 10.81 25 0 0.00 C17orf107 100130311 genome.wustl.edu 37 17 4803096 4803096 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4803096 4803096 G C SNP C17orf107 ENST00000381365 human ensembl 70_37 +1 known missense c.39 p.W13C 1.000 NULL NULL - no_errors C17orf107 HGNC ENSG00000205710 65 21 24.42 80 0 0.00 C17orf47 284083 genome.wustl.edu 37 17 56620839 56620839 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 56620839 56620839 G C SNP C17orf47 ENST00000321691 human ensembl 70_37 -1 known missense c.709 p.Q237E 0.001 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 22 6 21.43 44 0 0.00 C17orf47 284083 genome.wustl.edu 37 17 56621168 56621168 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 56621168 56621168 C G SNP C17orf47 ENST00000321691 human ensembl 70_37 -1 known missense c.380 p.R127T 0.067 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 176 48 21.33 128 0 0.00 C17orf50 146853 genome.wustl.edu 37 17 34091109 34091109 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34091109 34091109 G A SNP C17orf50 ENST00000285023 human ensembl 70_37 +1 known missense c.97 p.E33K 0.941 NULL NULL - no_errors C17orf50 HGNC ENSG00000154768 10 8 44.44 20 0 0.00 C17orf50 146853 genome.wustl.edu 37 17 34091481 34091481 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 34091481 34091481 G T SNP C17orf50 ENST00000285023 human ensembl 70_37 +1 known missense c.369 p.E123D 0.929 NULL NULL - no_errors C17orf50 HGNC ENSG00000154768 20 3 13.04 15 0 0.00 C17orf51 339263 genome.wustl.edu 37 17 21437478 21437478 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 21437478 21437478 G T SNP C17orf51 ENST00000426261 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C17orf51 HGNC ENSG00000212719 20 4 16.67 25 0 0.00 C17orf51 339263 genome.wustl.edu 37 17 21476531 21476531 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 21476531 21476531 C T SNP C17orf51 ENST00000426261 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors C17orf51 HGNC ENSG00000212719 2 5 71.43 10 0 0.00 C17orf53 78995 genome.wustl.edu 37 17 42222620 42222620 + Missense_Mutation SNP A A C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 42222620 42222620 A C SNP C17orf53 ENST00000319977 human ensembl 70_37 +1 known missense c.53 p.E18A 1.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 81 26 24.30 127 0 0.00 C17orf53 78995 genome.wustl.edu 37 17 42232292 42232292 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 42232292 42232292 C T SNP C17orf53 ENST00000319977 human ensembl 70_37 +1 known silent c.1633 p.L545 1.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 10 9 47.37 18 0 0.00 C17orf58 284018 genome.wustl.edu 37 17 65989227 65989227 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 65989227 65989227 G A SNP C17orf58 ENST00000449250 human ensembl 70_37 -1 known silent c.36 p.F12 1.000 superfamily_TIMP-like_OB-fold superfamily_TIMP-like_OB-fold - no_errors C17orf58 HGNC ENSG00000186665 38 29 43.28 74 0 0.00 C17orf59 54785 genome.wustl.edu 37 17 8093446 8093446 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8093446 8093446 G A SNP C17orf59 ENST00000389017 human ensembl 70_37 -1 known missense c.13 p.R5W 0.969 NULL pfam_DUF2365 - no_errors C17orf59 HGNC ENSG00000196544 33 8 19.51 44 0 0.00 C17orf62 79415 genome.wustl.edu 37 17 80401492 80401492 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 80401492 80401492 G A SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known silent c.507 p.L169 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 33 13 28.26 86 0 0.00 C17orf62 79415 genome.wustl.edu 37 17 80401499 80401499 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 80401499 80401499 C T SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known missense c.500 p.G167E 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 33 12 26.67 91 0 0.00 C17orf62 79415 genome.wustl.edu 37 17 80401643 80401643 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 17 80401643 80401643 C T SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known nonsense c.356 p.W119* 0.011 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 127 17 11.81 75 0 0.00 C17orf62 79415 genome.wustl.edu 37 17 80402346 80402346 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 80402346 80402346 C G SNP C17orf62 ENST00000306645 human ensembl 70_37 -1 known missense c.420 p.Q140H 1.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 28 15 34.88 28 0 0.00 C17orf62 79415 genome.wustl.edu 37 17 80402346 80402346 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 80402346 80402346 C G SNP C17orf62 ENST00000306645 human ensembl 70_37 -1 known missense c.420 p.Q140H 1.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 31 26 45.61 83 0 0.00 C17orf66 256957 genome.wustl.edu 37 17 34185207 34185207 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 34185207 34185207 G C SNP C17orf66 ENST00000311880 human ensembl 70_37 -1 known missense c.1149 p.F383L 0.472 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 217 71 24.65 334 0 0.00 C17orf70 80233 genome.wustl.edu 37 17 79507882 79507882 + Missense_Mutation SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79507882 79507882 T C SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2609 p.Y870C 0.968 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 7 3 30.00 14 0 0.00 C17orf70 80233 genome.wustl.edu 37 17 79512804 79512804 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79512804 79512804 C T SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2278 p.D760N 0.587 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 28 20 41.67 60 0 0.00 C17orf70 80233 genome.wustl.edu 37 17 79513984 79513984 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 79513984 79513984 G C SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2124 p.I708M 0.056 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 11 6 35.29 27 0 0.00 C17orf70 80233 genome.wustl.edu 37 17 79514520 79514520 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 79514520 79514520 C T SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.1588 p.E530K 0.972 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 32 14 30.43 44 0 0.00 C17orf70 80233 genome.wustl.edu 37 17 79516320 79516320 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79516320 79516320 C G SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.1315 p.E439Q 0.001 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 70 26 27.08 108 0 0.00 C17orf72 92340 genome.wustl.edu 37 17 62078827 62078827 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 62078827 62078827 G A SNP C17orf72 ENST00000577953 human ensembl 70_37 +1 known missense c.244 p.E82K 0.988 NULL NULL - no_errors C17orf72 HGNC ENSG00000224383 16 13 44.83 24 0 0.00 C17orf74 201243 genome.wustl.edu 37 17 7329892 7329892 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 7329892 7329892 G A SNP C17orf74 ENST00000574034 human ensembl 70_37 +1 putative missense c.244 p.V82I 0.001 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 44 44 50.00 59 0 0.00 C17orf75 64149 genome.wustl.edu 37 17 30658984 30658984 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 30658984 30658984 G T SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.989 p.T330K 1.000 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 18 4 18.18 29 0 0.00 C17orf75 64149 genome.wustl.edu 37 17 30661853 30661853 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 30661853 30661853 C G SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.675 p.L225F 1.000 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 43 20 31.75 48 0 0.00 C17orf75 64149 genome.wustl.edu 37 17 30669122 30669122 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 30669122 30669122 C G SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.37 p.E13Q 0.964 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 47 13 21.67 75 0 0.00 C17orf75 64149 genome.wustl.edu 37 17 30669148 30669148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 30669148 30669148 G C SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.11 p.S4C 0.944 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 14 3 17.65 24 0 0.00 C17orf76-AS1 125144 genome.wustl.edu 37 17 16342592 16342592 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16342592 16342592 C T SNP C17orf76-AS1 ENST00000470491 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 14 10 41.67 15 0 0.00 C17orf76-AS1 125144 genome.wustl.edu 37 17 16342647 16342647 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 16342647 16342647 A G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 23 22 48.89 26 0 0.00 C17orf76-AS1 125144 genome.wustl.edu 37 17 16342647 16342647 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 16342647 16342647 A G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 32 23 41.82 107 0 0.00 C17orf76-AS1 125144 genome.wustl.edu 37 17 16344739 16344739 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 16344739 16344739 C G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 14 3 17.65 33 0 0.00 C17orf80 55028 genome.wustl.edu 37 17 71243444 71243444 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 71243444 71243444 G A SNP C17orf80 ENST00000359042 human ensembl 70_37 +1 known silent c.1794 p.T598 0.000 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 26 17 39.53 33 0 0.00 C17orf82 388407 genome.wustl.edu 37 17 59489402 59489402 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 59489402 59489402 C G SNP C17orf82 ENST00000335108 human ensembl 70_37 +1 known silent c.66 p.L22 0.003 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 55 15 21.43 81 0 0.00 C17orf85 55421 genome.wustl.edu 37 17 3716346 3716346 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 3716346 3716346 C T SNP C17orf85 ENST00000389005 human ensembl 70_37 -1 known missense c.1855 p.E619K 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 41 6 12.77 40 0 0.00 C17orf96 100170841 genome.wustl.edu 37 17 36829966 36829966 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 36829966 36829966 G T SNP C17orf96 ENST00000325814 human ensembl 70_37 -1 known missense c.783 p.F261L 0.822 NULL NULL - no_errors C17orf96 HGNC ENSG00000179294 11 5 31.25 13 0 0.00 C17orf97 400566 genome.wustl.edu 37 17 263129 263129 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 263129 263129 G A SNP C17orf97 ENST00000360127 human ensembl 70_37 +1 known silent c.495 p.R165 0.001 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 18 11 37.93 30 0 0.00 C17orf98 388381 genome.wustl.edu 37 17 36997501 36997501 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36997501 36997501 C G SNP C17orf98 ENST00000398575 human ensembl 70_37 -1 known missense c.142 p.D48H 1.000 NULL NULL - no_errors C17orf98 HGNC ENSG00000214556 22 14 38.89 31 0 0.00 C17orf99 100141515 genome.wustl.edu 37 17 76160238 76160238 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 76160238 76160238 G A SNP C17orf99 ENST00000340363 human ensembl 70_37 +1 known missense c.433 p.E145K 0.031 NULL NULL - no_errors C17orf99 HGNC ENSG00000187997 33 19 36.54 55 0 0.00 C17orf99 100141515 genome.wustl.edu 37 17 76160781 76160781 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76160781 76160781 C A SNP C17orf99 ENST00000451352 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C17orf99 HGNC ENSG00000187997 14 11 44.00 40 0 0.00 C18orf21 83608 genome.wustl.edu 37 18 33554887 33554887 + Missense_Mutation SNP T T G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 33554887 33554887 T G SNP C18orf21 ENST00000592875 human ensembl 70_37 +1 known missense c.129 p.C43W 1.000 NULL NULL - no_errors C18orf21 HGNC ENSG00000141428 115 45 28.12 207 0 0.00 C18orf25 147339 genome.wustl.edu 37 18 43796150 43796150 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 43796150 43796150 C T SNP C18orf25 ENST00000282059 human ensembl 70_37 +1 putative missense c.304 p.H102Y 1.000 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 32 26 44.83 46 0 0.00 C18orf54 162681 genome.wustl.edu 37 18 51892104 51892104 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 51892104 51892104 C T SNP C18orf54 ENST00000300091 human ensembl 70_37 +1 known silent c.756 p.P252 0.996 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 138 111 44.40 256 0 0.00 C18orf54 162681 genome.wustl.edu 37 18 51892104 51892104 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 51892104 51892104 C T SNP C18orf54 ENST00000300091 human ensembl 70_37 +1 known silent c.756 p.P252 0.996 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 24 35 59.32 34 0 0.00 C18orf61 497259 genome.wustl.edu 37 18 12211918 12211918 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 12211918 12211918 C T SNP C18orf61 ENST00000586642 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-64C12.3 Clone_based_vega_gene ENSG00000267733 43 18 29.51 86 0 0.00 C18orf8 29919 genome.wustl.edu 37 18 21109337 21109337 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 21109337 21109337 C T SNP C18orf8 ENST00000591367 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C18orf8 HGNC ENSG00000141452 9 5 35.71 11 0 0.00 C18orf8 29919 genome.wustl.edu 37 18 21111732 21111732 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 21111732 21111732 C G SNP C18orf8 ENST00000591367 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C18orf8 HGNC ENSG00000141452 38 10 20.41 64 0 0.00 C19orf12 83636 genome.wustl.edu 37 19 30193594 30193594 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 30193594 30193594 C G SNP C19orf12 ENST00000392275 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf12 HGNC ENSG00000131943 31 24 43.64 45 0 0.00 C19orf18 147685 genome.wustl.edu 37 19 58472918 58472918 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 58472918 58472918 G A SNP C19orf18 ENST00000314391 human ensembl 70_37 -1 known nonsense c.373 p.R125* 0.719 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 113 39 25.16 226 0 0.00 MISP 126353 genome.wustl.edu 37 19 757449 757449 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 757449 757449 G T SNP C19orf21 ENST00000215582 human ensembl 70_37 +1 known missense c.503 p.G168V 0.002 NULL NULL - no_errors C19orf21 HGNC ENSG00000099812 40 5 11.11 43 0 0.00 MISP 126353 genome.wustl.edu 37 19 759915 759915 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 759915 759915 C A SNP C19orf21 ENST00000215582 human ensembl 70_37 +1 known missense c.1787 p.T596K 0.397 NULL NULL - no_errors C19orf21 HGNC ENSG00000099812 113 20 15.04 142 0 0.00 MISP 126353 genome.wustl.edu 37 19 759979 759979 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 759979 759979 G A SNP C19orf21 ENST00000215582 human ensembl 70_37 +1 known silent c.1851 p.A617 0.920 NULL NULL - no_errors C19orf21 HGNC ENSG00000099812 111 54 32.73 119 0 0.00 C19orf26 255057 genome.wustl.edu 37 19 1233483 1233483 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1233483 1233483 G C SNP C19orf26 ENST00000382477 human ensembl 70_37 -1 known missense c.981 p.F327L 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 19 13 40.62 21 0 0.00 C19orf26 255057 genome.wustl.edu 37 19 1234584 1234584 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 1234584 1234584 G C SNP C19orf26 ENST00000382477 human ensembl 70_37 -1 known missense c.673 p.L225V 0.795 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 46 49 51.58 47 0 0.00 C19orf35 374872 genome.wustl.edu 37 19 2280831 2280831 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 2280831 2280831 C T SNP C19orf35 ENST00000590316 human ensembl 70_37 -1 known missense c.100 p.E34K 0.005 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 60 21 25.93 91 0 0.00 C19orf38 255809 genome.wustl.edu 37 19 10959203 10959203 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 10959203 10959203 C T SNP C19orf38 ENST00000397820 human ensembl 70_37 +1 known missense c.19 p.L7F 0.153 NULL NULL - no_errors C19orf38 HGNC ENSG00000214212 29 15 34.09 38 0 0.00 C19orf43 79002 genome.wustl.edu 37 19 12841840 12841840 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12841840 12841840 C T SNP C19orf43 ENST00000242784 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 NULL NULL - no_errors C19orf43 HGNC ENSG00000123144 25 21 45.65 28 0 0.00 C19orf45 374877 genome.wustl.edu 37 19 7570449 7570449 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 7570449 7570449 G A SNP C19orf45 ENST00000361664 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 27 4 12.90 29 0 0.00 C19orf47 126526 genome.wustl.edu 37 19 40827897 40827897 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 40827897 40827897 C T SNP C19orf47 ENST00000582783 human ensembl 70_37 -1 known silent c.1161 p.R387 1.000 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 51 6 10.53 57 0 0.00 C19orf54 284325 genome.wustl.edu 37 19 41248441 41248441 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 41248441 41248441 G A SNP C19orf54 ENST00000378313 human ensembl 70_37 -1 known missense c.953 p.S318L 0.000 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 36 14 28.00 32 0 0.00 C19orf55 148137 genome.wustl.edu 37 19 36249077 36249077 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36249077 36249077 G A SNP C19orf55 ENST00000544876 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors C19orf55 HGNC ENSG00000167595 31 11 26.19 43 0 0.00 C19orf55 148137 genome.wustl.edu 37 19 36258752 36258752 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36258752 36258752 G A SNP C19orf55 ENST00000396908 human ensembl 70_37 +1 known silent c.1005 p.V335 0.000 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 17 10 37.04 34 0 0.00 C19orf57 79173 genome.wustl.edu 37 19 14000075 14000075 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 14000075 14000075 C T SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known missense c.1594 p.E532K 0.623 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 31 14 31.11 50 0 0.00 C19orf57 79173 genome.wustl.edu 37 19 14000393 14000393 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 14000393 14000393 C T SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known missense c.1276 p.G426R 0.000 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 16 18 52.94 33 0 0.00 C19orf57 79173 genome.wustl.edu 37 19 14003957 14003957 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 14003957 14003957 G A SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known nonsense c.286 p.Q96* 0.991 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 27 16 37.21 21 0 0.00 C19orf59 199675 genome.wustl.edu 37 19 7743008 7743008 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7743008 7743008 C T SNP C19orf59 ENST00000333598 human ensembl 70_37 +1 known missense c.203 p.P68L 0.000 NULL NULL - no_errors C19orf59 HGNC ENSG00000183019 11 9 45.00 29 0 0.00 TMEM259 91304 genome.wustl.edu 37 19 1011437 1011437 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1011437 1011437 G C SNP C19orf6 ENST00000356663 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_Membralin pfam_Membralin - no_errors C19orf6 HGNC ENSG00000182087 55 25 30.49 44 0 0.00 TMEM259 91304 genome.wustl.edu 37 19 1013310 1013310 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 1013310 1013310 G C SNP C19orf6 ENST00000356663 human ensembl 70_37 -1 known missense c.537 p.F179L 1.000 pfam_Membralin pfam_Membralin - no_errors C19orf6 HGNC ENSG00000182087 55 25 30.86 103 0 0.00 TMEM259 91304 genome.wustl.edu 37 19 1014419 1014419 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1014419 1014419 C T SNP C19orf6 ENST00000356663 human ensembl 70_37 -1 known silent c.279 p.S93 0.005 pfam_Membralin pfam_Membralin - no_errors C19orf6 HGNC ENSG00000182087 119 36 23.23 161 1 0.62 C19orf68 374920 genome.wustl.edu 37 19 48685724 48685724 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 48685724 48685724 C T SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known silent c.288 p.P96 0.974 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 11 7 38.89 53 0 0.00 C19orf68 374920 genome.wustl.edu 37 19 48698922 48698922 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 48698922 48698922 G C SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known missense c.1601 p.R534T 0.003 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 34 6 15.00 30 0 0.00 C19orf68 374920 genome.wustl.edu 37 19 48698998 48698998 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48698998 48698998 G A SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known nonsense c.1677 p.W559* 1.000 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 121 36 22.93 108 0 0.00 C19orf71 100128569 genome.wustl.edu 37 19 3543237 3543237 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 3543237 3543237 G C SNP C19orf71 ENST00000329493 human ensembl 70_37 +1 known missense c.88 p.D30H 0.934 NULL NULL - no_errors C19orf71 HGNC ENSG00000183397 20 26 56.52 49 0 0.00 C19orf73 55150 genome.wustl.edu 37 19 49621985 49621985 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 49621985 49621985 G A SNP C19orf73 ENST00000408991 human ensembl 70_37 -1 known nonsense c.295 p.Q99* 0.002 NULL NULL - no_errors C19orf73 HGNC ENSG00000221916 75 16 17.58 64 0 0.00 C1GALT1C1 29071 genome.wustl.edu 37 X 119760175 119760175 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 119760175 119760175 G A SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.847 p.P283S 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 25 17 40.48 90 0 0.00 C1GALT1C1 29071 genome.wustl.edu 37 X 119760183 119760183 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 119760183 119760183 C A SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.839 p.G280V 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 89 13 12.75 74 0 0.00 C1GALT1C1 29071 genome.wustl.edu 37 X 119760656 119760656 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 119760656 119760656 C T SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.366 p.M122I 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 82 50 37.31 81 0 0.00 C1GALT1C1 29071 genome.wustl.edu 37 X 119760958 119760958 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 119760958 119760958 T C SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.64 p.I22V 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 18 9 33.33 26 0 0.00 C1QBP 708 genome.wustl.edu 37 17 5342165 5342165 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 5342165 5342165 C T SNP C1QBP ENST00000225698 human ensembl 70_37 -1 known missense c.229 p.D77N 0.963 superfamily_MAM33 pfam_MAM33,superfamily_MAM33 - no_errors C1QBP HGNC ENSG00000108561 11 4 26.67 10 0 0.00 C1QC 714 genome.wustl.edu 37 1 22974165 22974165 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22974165 22974165 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known silent c.627 p.L209 0.467 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 26 11 29.73 30 0 0.00 C1QC 714 genome.wustl.edu 37 1 22974171 22974171 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22974171 22974171 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known silent c.633 p.L211 0.326 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 28 11 28.21 30 0 0.00 C1QC 714 genome.wustl.edu 37 1 22974214 22974214 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 22974214 22974214 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known missense c.676 p.D226N 0.998 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 44 18 29.03 51 0 0.00 C1QL1 10882 genome.wustl.edu 37 17 43037648 43037648 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43037648 43037648 C A SNP C1QL1 ENST00000253407 human ensembl 70_37 -1 known nonsense c.685 p.E229* 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 37 11 22.92 27 0 0.00 C1QL1 10882 genome.wustl.edu 37 17 43044840 43044840 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 43044840 43044840 C T SNP C1QL1 ENST00000253407 human ensembl 70_37 -1 known missense c.577 p.D193N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 14 13 48.15 38 0 0.00 C1QL2 165257 genome.wustl.edu 37 2 119915184 119915184 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 2 119915184 119915184 G A SNP C1QL2 ENST00000272520 human ensembl 70_37 -1 known missense c.662 p.A221V 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL2 HGNC ENSG00000144119 73 34 31.48 123 0 0.00 C1QL4 338761 genome.wustl.edu 37 12 49729936 49729936 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49729936 49729936 G A SNP C1QL4 ENST00000334221 human ensembl 70_37 -1 known missense c.325 p.R109C 0.995 superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 20 18 47.37 23 0 0.00 C1QL4 338761 genome.wustl.edu 37 12 49729936 49729936 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49729936 49729936 G A SNP C1QL4 ENST00000334221 human ensembl 70_37 -1 known missense c.325 p.R109C 0.995 superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 9 7 43.75 17 0 0.00 C1QTNF1 114897 genome.wustl.edu 37 17 77040139 77040139 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 77040139 77040139 T C SNP C1QTNF1 ENST00000354124 human ensembl 70_37 +1 known missense c.119 p.V40A 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 31 10 24.39 40 0 0.00 C1QTNF1 114897 genome.wustl.edu 37 17 77042726 77042726 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 77042726 77042726 C A SNP C1QTNF1 ENST00000354124 human ensembl 70_37 +1 known missense c.275 p.S92Y 0.797 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 15 3 16.67 25 0 0.00 C1QTNF2 114898 genome.wustl.edu 37 5 159776312 159776312 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 159776312 159776312 G C SNP C1QTNF2 ENST00000393975 human ensembl 70_37 -1 known missense c.856 p.L286V 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 6 19 76.00 54 0 0.00 C1QTNF2 114898 genome.wustl.edu 37 5 159776635 159776635 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 159776635 159776635 C A SNP C1QTNF2 ENST00000393975 human ensembl 70_37 -1 known missense c.533 p.G178V 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 18 4 18.18 31 0 0.00 C1QTNF4 114900 genome.wustl.edu 37 11 47611686 47611686 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 47611686 47611686 G A SNP C1QTNF4 ENST00000302514 human ensembl 70_37 -1 known missense c.677 p.P226L 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 9 10 52.63 24 0 0.00 C1QTNF5 114902 genome.wustl.edu 37 11 119209810 119209810 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119209810 119209810 G T SNP C1QTNF5 ENST00000525657 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1QTNF5 HGNC ENSG00000223953 6 8 57.14 19 0 0.00 C1QTNF5 114902 genome.wustl.edu 37 11 119209986 119209986 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 119209986 119209986 C T SNP C1QTNF5 ENST00000525657 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors C1QTNF5 HGNC ENSG00000223953 18 17 48.57 34 0 0.00 C1QTNF6 114904 genome.wustl.edu 37 22 37576362 37576362 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 37576362 37576362 G A SNP C1QTNF6 ENST00000470655 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors C1QTNF6 HGNC ENSG00000133466 59 7 10.61 65 0 0.00 C1QTNF6 114904 genome.wustl.edu 37 22 37578265 37578265 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 37578265 37578265 G T SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.800 p.T267N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 29 4 12.12 27 0 0.00 C1QTNF6 114904 genome.wustl.edu 37 22 37578303 37578303 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 37578303 37578303 C T SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known silent c.762 p.E254 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 71 8 10.13 67 0 0.00 C1QTNF6 114904 genome.wustl.edu 37 22 37581360 37581360 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 37581360 37581360 C G SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 62 12 16.22 64 0 0.00 C1QTNF6 114904 genome.wustl.edu 37 22 37581393 37581393 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 37581393 37581393 C G SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.154 p.V52L 0.013 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 46 31 40.26 74 0 0.00 C1QTNF7 114905 genome.wustl.edu 37 4 15443963 15443963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 15443963 15443963 G C SNP C1QTNF7 ENST00000429690 human ensembl 70_37 +1 known missense c.410 p.G137A 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 20 21 51.22 45 0 0.00 C1QTNF9 338872 genome.wustl.edu 37 13 24893016 24893016 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 24893016 24893016 G A SNP C1QTNF9 ENST00000332018 human ensembl 70_37 +1 known missense c.227 p.R76Q 0.980 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 171 43 20.09 163 0 0.00 C1QTNF9-AS1 100874232 genome.wustl.edu 37 13 24890012 24890012 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 24890012 24890012 T C SNP C1QTNF9-AS1 ENST00000449656 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors C1QTNF9-AS1 HGNC ENSG00000240868 12 7 36.84 15 0 0.00 C1QTNF9B-AS1 542767 genome.wustl.edu 37 13 24471170 24471170 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 24471170 24471170 G A SNP C1QTNF9B-AS1 ENST00000417034 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C1QTNF9B-AS1 HGNC ENSG00000205861 71 23 24.47 68 0 0.00 C1R 715 genome.wustl.edu 37 12 7187784 7187785 + RNA INS - - T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 7187784 7187785 - T INS C1R ENST00000458061 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors C1R HGNC ENSG00000159403 23 4 14.81 21 0 0.00 C1R 715 genome.wustl.edu 37 12 7187958 7187958 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 7187958 7187958 C A SNP C1R ENST00000290575 human ensembl 70_37 -1 known missense c.1885 p.D629Y 0.182 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1R HGNC ENSG00000159403 20 4 16.67 21 0 0.00 C1RL 51279 genome.wustl.edu 37 12 7249310 7249310 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 7249310 7249310 C G SNP C1RL ENST00000266542 human ensembl 70_37 -1 known missense c.1141 p.E381Q 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 36 32 47.06 70 0 0.00 C1RL 51279 genome.wustl.edu 37 12 7252370 7252370 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 7252370 7252370 G A SNP C1RL ENST00000544702 human ensembl 70_37 -1 putative missense c.650 p.S217L 0.022 NULL pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB - no_errors C1RL HGNC ENSG00000139178 57 16 21.92 153 0 0.00 C1S 716 genome.wustl.edu 37 12 7170342 7170342 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 7170342 7170342 C T SNP C1S ENST00000328916 human ensembl 70_37 +1 known missense c.362 p.T121M 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 61 30 32.97 110 0 0.00 C1orf101 257044 genome.wustl.edu 37 1 244643083 244643083 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 244643083 244643083 T G SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.323 p.V108G 0.001 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 31 11 26.19 55 0 0.00 C1orf101 257044 genome.wustl.edu 37 1 244662331 244662331 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 244662331 244662331 G A SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.379 p.E127K 1.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 19 5 20.83 21 0 0.00 C1orf101 257044 genome.wustl.edu 37 1 244735747 244735747 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 244735747 244735747 C T SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known silent c.1623 p.F541 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 119 20 14.39 94 0 0.00 C1orf101 257044 genome.wustl.edu 37 1 244736009 244736009 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 244736009 244736009 A C SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.1885 p.K629Q 0.279 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 35 4 10.26 61 0 0.00 C1orf101 257044 genome.wustl.edu 37 1 244756713 244756713 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 244756713 244756713 C T SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known nonsense c.2206 p.Q736* 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 18 19 51.35 33 0 0.00 C1orf106 55765 genome.wustl.edu 37 1 200860773 200860773 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 200860773 200860773 G A SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known silent c.105 p.A35 0.001 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 43 21 32.81 25 0 0.00 C1orf106 55765 genome.wustl.edu 37 1 200876963 200876963 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 200876963 200876963 G A SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known silent c.777 p.E259 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 81 28 25.69 128 1 0.78 C1orf106 55765 genome.wustl.edu 37 1 200880636 200880636 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 200880636 200880636 C T SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known missense c.1270 p.R424C 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 20 12 37.50 62 0 0.00 C1orf109 54955 genome.wustl.edu 37 1 38148083 38148083 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38148083 38148083 A C SNP C1orf109 ENST00000494120 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf109 HGNC ENSG00000116922 18 5 21.74 28 0 0.00 C1orf109 54955 genome.wustl.edu 37 1 38148726 38148726 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 38148726 38148726 G C SNP C1orf109 ENST00000464178 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf109 HGNC ENSG00000116922 37 10 21.28 34 0 0.00 C1orf109 54955 genome.wustl.edu 37 1 38156031 38156031 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 38156031 38156031 G C SNP C1orf109 ENST00000461359 human ensembl 70_37 -1 known rna NULL NULL 0.122 - - - no_errors C1orf109 HGNC ENSG00000116922 41 21 33.87 71 0 0.00 C1orf110 339512 genome.wustl.edu 37 1 162824639 162824639 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 162824639 162824639 C G SNP C1orf110 ENST00000367910 human ensembl 70_37 -1 known missense c.825 p.E275D 0.659 NULL NULL - no_errors C1orf110 HGNC ENSG00000185860 96 11 10.28 49 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169770059 169770059 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 169770059 169770059 C T SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.13 p.H5Y 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 45 16 26.23 44 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169771780 169771780 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 169771780 169771780 G A SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.85 p.D29N 0.997 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 84 25 22.94 68 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169792605 169792605 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 169792605 169792605 G C SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.840 p.Q280H 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 282 49 14.80 235 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169798416 169798416 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 169798416 169798416 C T SNP C1orf112 ENST00000413811 human ensembl 70_37 +1 known missense c.923 p.S308L 0.950 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 51 26 33.77 120 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169798460 169798460 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 169798460 169798460 C G SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 64 42 39.62 73 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169806079 169806079 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 169806079 169806079 C T SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known silent c.1551 p.I517 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 23 14 37.84 33 0 0.00 C1orf112 55732 genome.wustl.edu 37 1 169806152 169806152 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 169806152 169806152 G C SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.1624 p.E542Q 0.096 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 29 14 32.56 45 0 0.00 CCDC181 57821 genome.wustl.edu 37 1 169391134 169391134 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 169391134 169391134 C T SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.535 p.E179K 0.742 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 32 5 13.51 18 0 0.00 CCDC181 57821 genome.wustl.edu 37 1 169391436 169391436 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 169391436 169391436 G C SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.233 p.P78R 0.184 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 7 3 30.00 16 0 0.00 CCDC181 57821 genome.wustl.edu 37 1 169394090 169394090 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169394090 169394090 A C SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.76 p.L26V 0.991 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 28 16 36.36 77 0 0.00 C1orf115 79762 genome.wustl.edu 37 1 220863780 220863780 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 220863780 220863780 G C SNP C1orf115 ENST00000294889 human ensembl 70_37 +1 known missense c.36 p.E12D 0.000 NULL NULL - no_errors C1orf115 HGNC ENSG00000162817 16 4 20.00 10 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207195713 207195713 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 207195713 207195713 G A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.1396 p.L466F 0.280 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 25 8 24.24 21 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207195735 207195735 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207195735 207195735 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known silent c.1374 p.P458 0.002 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 29 12 29.27 27 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207196117 207196117 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 207196117 207196117 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.992 p.G331V 0.003 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 68 10 12.82 56 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207196378 207196378 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 207196378 207196378 G A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.731 p.S244L 0.000 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 68 39 36.45 127 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207196584 207196584 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 207196584 207196584 C G SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.525 p.Q175H 0.001 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 57 13 18.57 60 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207196772 207196772 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 207196772 207196772 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known nonsense c.337 p.E113* 0.000 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 58 32 35.56 81 0 0.00 C1orf116 79098 genome.wustl.edu 37 1 207200937 207200937 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 207200937 207200937 C T SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.7 p.E3K 0.926 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 29 24 45.28 26 0 0.00 C1orf122 127687 genome.wustl.edu 37 1 38274657 38274657 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 38274657 38274657 C T SNP C1orf122 ENST00000446260 human ensembl 70_37 +1 known nonsense c.331 p.Q111* 1.000 NULL NULL - no_errors C1orf122 HGNC ENSG00000197982 31 6 16.22 41 0 0.00 C1orf122 127687 genome.wustl.edu 37 1 38274837 38274837 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 38274837 38274837 C T SNP C1orf122 ENST00000525096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C1orf122 HGNC ENSG00000197982 31 9 22.50 43 0 0.00 C1orf123 54987 genome.wustl.edu 37 1 53685871 53685871 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53685871 53685871 G A SNP C1orf123 ENST00000474227 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC ENSG00000162384 50 35 41.18 98 0 0.00 C1orf123 54987 genome.wustl.edu 37 1 53685956 53685956 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 53685956 53685956 C T SNP C1orf123 ENST00000294360 human ensembl 70_37 -1 known missense c.67 p.E23K 1.000 pfam_DUF866_euk pfam_DUF866_euk - no_errors C1orf123 HGNC ENSG00000162384 64 45 41.28 109 1 0.91 C1orf123 54987 genome.wustl.edu 37 1 53686129 53686129 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 53686129 53686129 C T SNP C1orf123 ENST00000470385 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf123 HGNC ENSG00000162384 78 18 18.75 51 0 0.00 C1orf123 54987 genome.wustl.edu 37 1 53686187 53686187 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 53686187 53686187 C T SNP C1orf123 ENST00000470385 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC ENSG00000162384 12 9 42.86 40 0 0.00 TMEM51-AS1 200197 genome.wustl.edu 37 1 15445259 15445259 + RNA SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 15445259 15445259 G T SNP C1orf126 ENST00000310916 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf126 HGNC ENSG00000175147 11 3 21.43 20 0 0.00 C1orf127 148345 genome.wustl.edu 37 1 11014198 11014198 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 11014198 11014198 C T SNP C1orf127 ENST00000377004 human ensembl 70_37 -1 known missense c.977 p.R326Q 0.097 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 20 9 31.03 26 0 0.00 MROH9 80133 genome.wustl.edu 37 1 170967418 170967418 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 170967418 170967418 G A SNP C1orf129 ENST00000367758 human ensembl 70_37 +1 known silent c.1599 p.V533 0.996 NULL superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 65 11 14.47 193 0 0.00 MROH9 80133 genome.wustl.edu 37 1 170993874 170993874 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 170993874 170993874 G C SNP C1orf129 ENST00000367759 human ensembl 70_37 +1 known missense c.2146 p.E716Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 47 10 17.54 41 0 0.00 C1orf131 128061 genome.wustl.edu 37 1 231374579 231374579 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 231374579 231374579 T C SNP C1orf131 ENST00000471936 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf131 HGNC ENSG00000143633 23 16 41.03 58 0 0.00 C1orf131 128061 genome.wustl.edu 37 1 231374798 231374798 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 231374798 231374798 C T SNP C1orf131 ENST00000366649 human ensembl 70_37 -1 known silent c.255 p.K85 0.993 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 33 14 29.79 48 0 0.00 C1orf131 128061 genome.wustl.edu 37 1 231376871 231376871 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 231376871 231376871 G A SNP C1orf131 ENST00000366649 human ensembl 70_37 -1 known missense c.17 p.S6L 0.001 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 33 16 32.65 62 0 0.00 C1orf141 400757 genome.wustl.edu 37 1 67559205 67559205 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 67559205 67559205 G C SNP C1orf141 ENST00000371006 human ensembl 70_37 -1 known missense c.686 p.S229C 0.001 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 30 6 16.67 26 0 0.00 C1orf147 574431 genome.wustl.edu 37 1 206665753 206665753 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 206665753 206665753 C T SNP C1orf147 ENST00000367119 human ensembl 70_37 -1 known missense c.781 p.E261K 0.050 NULL NULL - no_errors C1orf147 HGNC ENSG00000162888 50 28 35.90 50 0 0.00 C1orf159 54991 genome.wustl.edu 37 1 1017588 1017588 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1017588 1017588 G C SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf159 HGNC ENSG00000131591 34 12 26.09 27 0 0.00 C1orf159 54991 genome.wustl.edu 37 1 1018005 1018005 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1018005 1018005 G A SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors C1orf159 HGNC ENSG00000131591 13 6 31.58 21 0 0.00 C1orf159 54991 genome.wustl.edu 37 1 1018229 1018229 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1018229 1018229 C T SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf159 HGNC ENSG00000131591 51 46 47.42 85 0 0.00 C1orf159 54991 genome.wustl.edu 37 1 1019451 1019451 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 1019451 1019451 C T SNP C1orf159 ENST00000379339 human ensembl 70_37 -1 known missense c.892 p.E298K 0.000 NULL NULL - no_errors C1orf159 HGNC ENSG00000131591 125 24 16.11 118 0 0.00 C1orf162 128346 genome.wustl.edu 37 1 112018185 112018185 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 112018185 112018185 C G SNP C1orf162 ENST00000464591 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors C1orf162 HGNC ENSG00000143110 15 8 34.78 10 0 0.00 C1orf168 199920 genome.wustl.edu 37 1 57185933 57185933 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 57185933 57185933 C T SNP C1orf168 ENST00000343433 human ensembl 70_37 -1 known missense c.2044 p.D682N 0.971 superfamily_SH3_domain superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 44 19 30.16 44 0 0.00 C1orf168 199920 genome.wustl.edu 37 1 57257810 57257810 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 57257810 57257810 C T SNP C1orf168 ENST00000343433 human ensembl 70_37 -1 known missense c.676 p.E226K 0.001 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 20 10 33.33 40 0 0.00 C1orf170 84808 genome.wustl.edu 37 1 911633 911633 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 911633 911633 G A SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known silent c.2010 p.V670 0.827 NULL NULL - no_errors C1orf170 HGNC ENSG00000187642 13 6 31.58 12 0 0.00 C1orf170 84808 genome.wustl.edu 37 1 911980 911980 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 911980 911980 G A SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known missense c.1892 p.S631L 0.026 NULL NULL - no_errors C1orf170 HGNC ENSG00000187642 21 8 27.59 41 0 0.00 C1orf170 84808 genome.wustl.edu 37 1 915302 915302 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 915302 915302 C T SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known missense c.826 p.D276N 0.087 NULL NULL - no_errors C1orf170 HGNC ENSG00000187642 27 19 41.30 40 0 0.00 C1orf172 126695 genome.wustl.edu 37 1 27276594 27276594 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 27276594 27276594 G C SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known missense c.1163 p.S388W 0.993 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 63 41 39.42 74 0 0.00 C1orf172 126695 genome.wustl.edu 37 1 27278001 27278001 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 27278001 27278001 G A SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known nonsense c.871 p.Q291* 1.000 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 32 12 27.27 22 0 0.00 C1orf172 126695 genome.wustl.edu 37 1 27278443 27278443 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 27278443 27278443 G C SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known silent c.429 p.P143 0.427 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 24 17 41.46 22 0 0.00 C1orf172 126695 genome.wustl.edu 37 1 27278790 27278790 + Nonsense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 27278790 27278790 C A SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known nonsense c.82 p.E28* 0.998 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 36 30 45.45 37 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75037649 75037649 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 75037649 75037649 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.3745 p.D1249N 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 57 55 49.11 66 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75038033 75038033 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 75038033 75038033 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.3361 p.E1121K 0.072 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 59 25 29.76 59 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75038216 75038216 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 75038216 75038216 G A SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known nonsense c.3178 p.R1060* 0.409 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 36 9 20.00 54 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75038598 75038598 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 75038598 75038598 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known silent c.2796 p.E932 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 29 28 49.12 61 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75038714 75038714 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 75038714 75038714 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.2680 p.E894K 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 64 30 31.91 73 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75055435 75055435 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 75055435 75055435 C G SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.2056 p.E686Q 0.003 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 48 12 20.00 53 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75055650 75055650 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 75055650 75055650 C G SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.1841 p.S614T 0.006 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 22 17 43.59 30 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75065580 75065580 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 75065580 75065580 G T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.1525 p.Q509K 0.982 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 39 11 22.00 73 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75078444 75078444 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 75078444 75078444 G T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known silent c.1050 p.L350 1.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 62 9 12.68 32 0 0.00 C1orf173 127254 genome.wustl.edu 37 1 75108728 75108728 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 75108728 75108728 G A SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known nonsense c.298 p.R100* 0.946 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 55 10 15.38 64 0 0.00 C1orf174 339448 genome.wustl.edu 37 1 3807432 3807432 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 3807432 3807432 C T SNP C1orf174 ENST00000361605 human ensembl 70_37 -1 known missense c.319 p.E107K 0.003 NULL NULL - no_errors C1orf174 HGNC ENSG00000198912 53 6 10.17 37 0 0.00 C1orf177 163747 genome.wustl.edu 37 1 55273258 55273258 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 55273258 55273258 G A SNP C1orf177 ENST00000371273 human ensembl 70_37 +1 known silent c.252 p.L84 0.660 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 55 20 26.67 70 0 0.00 C1orf177 163747 genome.wustl.edu 37 1 55277499 55277499 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 55277499 55277499 G A SNP C1orf177 ENST00000371273 human ensembl 70_37 +1 known silent c.513 p.E171 0.951 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 66 17 20.48 97 0 0.00 C1orf189 388701 genome.wustl.edu 37 1 154178094 154178094 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 154178094 154178094 T C SNP C1orf189 ENST00000368525 human ensembl 70_37 -1 known silent c.54 p.G18 0.003 NULL NULL - no_errors C1orf189 HGNC ENSG00000163263 55 18 24.32 87 0 0.00 C1orf191 619518 genome.wustl.edu 37 1 54703787 54703787 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 54703787 54703787 G A SNP C1orf191 ENST00000361350 human ensembl 70_37 +1 known silent c.48 p.V16 0.000 NULL NULL - no_errors C1orf191 HGNC ENSG00000198711 44 5 10.20 33 0 0.00 C1orf204 284677 genome.wustl.edu 37 1 159810561 159810561 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 159810561 159810561 G A SNP C1orf204 ENST00000368102 human ensembl 70_37 -1 novel nonsense c.538 p.Q180* 0.001 NULL NULL - no_errors C1orf204 HGNC ENSG00000188004 33 8 19.51 37 0 0.00 C1orf204 284677 genome.wustl.edu 37 1 159810630 159810630 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159810630 159810630 G C SNP C1orf204 ENST00000368102 human ensembl 70_37 -1 novel missense c.469 p.P157A 0.001 NULL NULL - no_errors C1orf204 HGNC ENSG00000188004 25 6 18.75 27 0 0.00 C1orf21 81563 genome.wustl.edu 37 1 184446657 184446657 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 184446657 184446657 C T SNP C1orf21 ENST00000235307 human ensembl 70_37 +1 known missense c.14 p.S5F 1.000 NULL NULL - no_errors C1orf21 HGNC ENSG00000116667 24 10 29.41 33 0 0.00 C1orf210 149466 genome.wustl.edu 37 1 43748630 43748630 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 43748630 43748630 G C SNP C1orf210 ENST00000423420 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 NULL NULL - no_errors C1orf210 HGNC ENSG00000253313 22 14 38.89 36 0 0.00 SMIM12 113444 genome.wustl.edu 37 1 35321430 35321430 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35321430 35321430 G C SNP C1orf212 ENST00000417239 human ensembl 70_37 -1 known nonsense c.149 p.S50* 0.910 NULL NULL - no_errors C1orf212 HGNC ENSG00000163866 25 16 39.02 32 0 0.00 C1orf216 127703 genome.wustl.edu 37 1 36181649 36181649 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 36181649 36181649 C A SNP C1orf216 ENST00000270815 human ensembl 70_37 -1 known missense c.274 p.G92W 0.003 NULL NULL - no_errors C1orf216 HGNC ENSG00000142686 33 4 10.81 24 0 0.00 C1orf216 127703 genome.wustl.edu 37 1 36181736 36181736 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36181736 36181736 C G SNP C1orf216 ENST00000270815 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 NULL NULL - no_errors C1orf216 HGNC ENSG00000142686 33 9 21.43 29 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1886754 1886754 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1886754 1886754 C A SNP C1orf222 ENST00000468610 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf222 HGNC ENSG00000142609 11 13 54.17 19 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1895300 1895300 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1895300 1895300 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1582 p.D528H 0.904 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 8 11 57.89 17 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1896377 1896377 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 1896377 1896377 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1525 p.E509K 0.998 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 34 14 29.17 41 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1896464 1896464 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 1896464 1896464 C A SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1438 p.G480W 0.949 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 27 4 12.90 28 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1896478 1896478 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1896478 1896478 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1424 p.R475Q 0.018 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 49 34 40.96 45 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1903506 1903506 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1903506 1903506 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known silent c.801 p.E267 0.270 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 75 27 26.47 133 1 0.75 C1orf222 85452 genome.wustl.edu 37 1 1916830 1916830 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1916830 1916830 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.495 p.E165D 0.044 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 13 16 55.17 31 0 0.00 C1orf222 85452 genome.wustl.edu 37 1 1920084 1920084 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 1920084 1920084 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.163 p.E55Q 0.001 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 43 8 15.69 40 0 0.00 C1orf226 400793 genome.wustl.edu 37 1 162353076 162353076 + Nonsense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 162353076 162353076 C A SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known nonsense c.551 p.S184* 0.113 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 14 5 26.32 34 0 0.00 C1orf226 400793 genome.wustl.edu 37 1 162353381 162353381 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 162353381 162353381 G A SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known missense c.856 p.E286K 0.992 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 41 15 26.79 32 0 0.00 C1orf226 400793 genome.wustl.edu 37 1 162353431 162353431 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162353431 162353431 C G SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known silent c.906 p.L302 0.033 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 32 6 15.79 29 0 0.00 C1orf227 149643 genome.wustl.edu 37 1 213009360 213009360 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 213009360 213009360 C T SNP C1orf227 ENST00000332912 human ensembl 70_37 -1 known silent c.132 p.L44 0.020 NULL NULL - no_errors C1orf227 HGNC ENSG00000185523 57 8 12.31 42 0 0.00 C1orf228 339541 genome.wustl.edu 37 1 45163817 45163817 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45163817 45163817 G A SNP C1orf228 ENST00000458657 human ensembl 70_37 +1 known missense c.358 p.E120K 0.988 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf228 HGNC ENSG00000198520 29 5 14.71 30 0 0.00 C1orf228 339541 genome.wustl.edu 37 1 45163829 45163829 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 45163829 45163829 G A SNP C1orf228 ENST00000458657 human ensembl 70_37 +1 known missense c.370 p.E124K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf228 HGNC ENSG00000198520 36 4 10.00 38 0 0.00 C1orf35 79169 genome.wustl.edu 37 1 228289607 228289607 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 228289607 228289607 G C SNP C1orf35 ENST00000469781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf35 HGNC ENSG00000143793 28 18 39.13 49 0 0.00 C1orf35 79169 genome.wustl.edu 37 1 228289722 228289722 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 228289722 228289722 C T SNP C1orf35 ENST00000469781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf35 HGNC ENSG00000143793 28 8 22.22 27 0 0.00 C1orf35 79169 genome.wustl.edu 37 1 228289823 228289823 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 228289823 228289823 G T SNP C1orf35 ENST00000272139 human ensembl 70_37 -1 known nonsense c.491 p.S164* 0.027 NULL pfam_Kinase_phosphorylation_domain - no_errors C1orf35 HGNC ENSG00000143793 22 10 31.25 18 0 0.00 C1orf43 25912 genome.wustl.edu 37 1 154179794 154179794 + RNA SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 154179794 154179794 C G SNP C1orf43 ENST00000483282 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf43 HGNC ENSG00000143612 21 7 25.00 16 0 0.00 C1orf43 25912 genome.wustl.edu 37 1 154185138 154185138 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154185138 154185138 C T SNP C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf43 HGNC ENSG00000143612 28 6 17.65 23 0 0.00 C1orf43 25912 genome.wustl.edu 37 1 154185145 154185145 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154185145 154185145 C G SNP C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf43 HGNC ENSG00000143612 24 6 20.00 22 0 0.00 C1orf43 25912 genome.wustl.edu 37 1 154185146 154185146 + RNA DEL T T - TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 154185146 154185146 T - DEL C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors C1orf43 HGNC ENSG00000143612 25 3 10.71 25 0 0.00 C1orf43 25912 genome.wustl.edu 37 1 154186400 154186400 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 154186400 154186400 C T SNP C1orf43 ENST00000368521 human ensembl 70_37 -1 known silent c.309 p.R103 0.997 pfam_NICE-3_prd pfam_NICE-3_prd - no_errors C1orf43 HGNC ENSG00000143612 55 23 29.49 74 0 0.00 C1orf50 79078 genome.wustl.edu 37 1 43239085 43239085 + RNA SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 43239085 43239085 G C SNP C1orf50 ENST00000494155 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors C1orf50 HGNC ENSG00000164008 8 6 42.86 11 0 0.00 C1orf51 148523 genome.wustl.edu 37 1 150257222 150257222 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150257222 150257222 C T SNP C1orf51 ENST00000469255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf51 HGNC ENSG00000159208 9 6 40.00 9 0 0.00 C1orf54 79630 genome.wustl.edu 37 1 150248963 150248963 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 150248963 150248963 G A SNP C1orf54 ENST00000369099 human ensembl 70_37 +1 known missense c.223 p.E75K 0.034 NULL NULL - no_errors C1orf54 HGNC ENSG00000118292 29 5 14.71 22 0 0.00 C1orf56 54964 genome.wustl.edu 37 1 151021205 151021205 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 151021205 151021205 C T SNP C1orf56 ENST00000368926 human ensembl 70_37 +1 known silent c.882 p.L294 0.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 157 38 19.39 156 0 0.00 C1orf61 10485 genome.wustl.edu 37 1 156379734 156379735 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 156379734 156379735 - T INS C1orf61 ENST00000488498 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors C1orf61 HGNC ENSG00000125462 50 12 19.35 25 0 0.00 C1orf61 10485 genome.wustl.edu 37 1 156382265 156382265 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 156382265 156382265 C T SNP C1orf61 ENST00000476966 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf61 HGNC ENSG00000125462 51 20 28.17 23 0 0.00 C1orf61 10485 genome.wustl.edu 37 1 156382478 156382478 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 156382478 156382478 C T SNP C1orf61 ENST00000465570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf61 HGNC ENSG00000125462 19 6 24.00 27 0 0.00 C1orf64 149563 genome.wustl.edu 37 1 16332652 16332652 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 16332652 16332652 G T SNP C1orf64 ENST00000329454 human ensembl 70_37 +1 known missense c.321 p.R107S 0.003 NULL NULL - no_errors C1orf64 HGNC ENSG00000183888 34 4 10.53 45 0 0.00 C1orf65 164127 genome.wustl.edu 37 1 223567621 223567621 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 223567621 223567621 G A SNP C1orf65 ENST00000366875 human ensembl 70_37 +1 known silent c.804 p.K268 0.586 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 16 10 38.46 38 0 0.00 C1orf65 164127 genome.wustl.edu 37 1 223568631 223568631 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 223568631 223568631 T G SNP C1orf65 ENST00000366875 human ensembl 70_37 +1 known missense c.1814 p.L605R 0.659 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 26 9 25.71 48 0 0.00 C1orf74 148304 genome.wustl.edu 37 1 209956597 209956597 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 209956597 209956597 G A SNP C1orf74 ENST00000294811 human ensembl 70_37 -1 known missense c.383 p.S128F 0.106 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 17 11 39.29 48 0 0.00 C1orf85 112770 genome.wustl.edu 37 1 156263336 156263336 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156263336 156263336 G A SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known missense c.830 p.S277L 0.000 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 11 11 50.00 21 0 0.00 C1orf85 112770 genome.wustl.edu 37 1 156263856 156263856 + Nonsense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 156263856 156263856 G A SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known nonsense c.751 p.Q251* 0.475 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 33 4 10.81 52 0 0.00 C1orf85 112770 genome.wustl.edu 37 1 156264186 156264186 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 156264186 156264186 C T SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known silent c.549 p.R183 0.054 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 86 24 21.62 78 0 0.00 C1orf86 199990 genome.wustl.edu 37 1 2116535 2116535 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 2116535 2116535 G A SNP C1orf86 ENST00000469733 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf86 HGNC ENSG00000162585 39 8 17.02 51 0 0.00 C1orf86 199990 genome.wustl.edu 37 1 2125597 2125598 + RNA DEL AG AG - TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2125597 2125598 AG - DEL C1orf86 ENST00000476803 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors C1orf86 HGNC ENSG00000162585 2 10 83.33 22 0 0.00 C1orf86 199990 genome.wustl.edu 37 1 2129633 2129633 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2129633 2129633 G C SNP C1orf86 ENST00000401813 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf86 HGNC ENSG00000162585 29 16 35.56 27 0 0.00 C1orf87 127795 genome.wustl.edu 37 1 60463473 60463473 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 60463473 60463473 C T SNP C1orf87 ENST00000371201 human ensembl 70_37 -1 known missense c.1288 p.E430K 0.035 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 23 8 25.81 35 0 0.00 C1orf87 127795 genome.wustl.edu 37 1 60474327 60474327 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 60474327 60474327 C T SNP C1orf87 ENST00000395552 human ensembl 70_37 -1 known silent c.87 p.L29 0.000 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 21 6 22.22 27 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34662959 34662959 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 34662959 34662959 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.454 p.E152K 0.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 30 23 42.59 25 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34662959 34662959 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 34662959 34662959 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.454 p.E152K 0.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 7 8 53.33 22 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34662969 34662969 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 34662969 34662969 G C SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.464 p.R155T 0.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 25 4 13.79 29 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34663019 34663019 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 34663019 34663019 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.514 p.E172K 0.003 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 39 15 27.78 46 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34663356 34663356 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 34663356 34663356 C A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.851 p.T284K 0.001 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 67 31 31.63 70 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34667794 34667794 + Silent SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 34667794 34667794 C G SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known silent c.1380 p.L460 0.986 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 54 13 19.40 57 0 0.00 C1orf94 84970 genome.wustl.edu 37 1 34677980 34677980 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 34677980 34677980 C T SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.1694 p.P565L 0.953 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 43 12 21.82 56 0 0.00 C1orf95 375057 genome.wustl.edu 37 1 226784513 226784513 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 226784513 226784513 C G SNP C1orf95 ENST00000366788 human ensembl 70_37 +1 known silent c.213 p.V71 1.000 NULL NULL - no_errors C1orf95 HGNC ENSG00000203685 26 9 25.71 27 0 0.00 LINC00862 554279 genome.wustl.edu 37 1 200312409 200312409 + Splice_Site SNP A A T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 200312409 200312409 A T SNP C1orf98 ENST00000367356 human ensembl 70_37 -1 known splice_site c.179+2 e2+2 0.002 - - - no_errors C1orf98 HGNC ENSG00000203721 27 5 15.62 21 0 0.00 C2 717 genome.wustl.edu 37 6 31902038 31902038 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 31902038 31902038 C G SNP C2 ENST00000299367 human ensembl 70_37 +1 known missense c.811 p.L271V 0.000 pfam_VWF_A,smart_VWF_A,pirsf_Compl_C2_B,pfscan_VWF_A pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C2 HGNC ENSG00000166278 18 12 40.00 40 0 0.00 OSER1 51526 genome.wustl.edu 37 20 42825852 42825852 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 42825852 42825852 G A SNP C20orf111 ENST00000255174 human ensembl 70_37 -1 known missense c.719 p.S240L 0.998 NULL pfam_DUF776 - no_errors C20orf111 HGNC ENSG00000132823 23 5 17.86 41 0 0.00 C20orf112 140688 genome.wustl.edu 37 20 31035550 31035550 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 31035550 31035550 C G SNP C20orf112 ENST00000359676 human ensembl 70_37 -1 known missense c.1160 p.S387T 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 25 8 24.24 43 0 0.00 C20orf112 140688 genome.wustl.edu 37 20 31062436 31062436 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 31062436 31062436 C T SNP C20orf112 ENST00000359676 human ensembl 70_37 -1 known missense c.77 p.R26Q 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 26 3 10.34 41 0 0.00 C20orf112 140688 genome.wustl.edu 37 20 31108723 31108723 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 31108723 31108723 G A SNP C20orf112 ENST00000201961 human ensembl 70_37 -1 known silent c.198 p.I66 0.996 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 24 19 44.19 57 0 0.00 C20orf112 140688 genome.wustl.edu 37 20 31115566 31115566 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 31115566 31115566 G C SNP C20orf112 ENST00000201961 human ensembl 70_37 -1 known missense c.190 p.R64G 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 48 26 35.14 79 0 0.00 C20orf112 140688 genome.wustl.edu 37 20 31136382 31136382 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31136382 31136382 G C SNP C20orf112 ENST00000485364 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C20orf112 HGNC ENSG00000197183 13 7 35.00 11 0 0.00 TLDC2 140711 genome.wustl.edu 37 20 35515883 35515883 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 35515883 35515883 C G SNP C20orf118 ENST00000217320 human ensembl 70_37 +1 known missense c.464 p.S155C 0.908 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors C20orf118 HGNC ENSG00000101342 98 18 15.52 120 0 0.00 MROH8 140699 genome.wustl.edu 37 20 35740792 35740792 + Missense_Mutation SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 20 35740792 35740792 C G SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2749 p.E917Q 0.868 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 29 26 47.27 42 0 0.00 MROH8 140699 genome.wustl.edu 37 20 35742515 35742515 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 35742515 35742515 G C SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2569 p.L857V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 49 12 19.67 58 0 0.00 MROH8 140699 genome.wustl.edu 37 20 35749320 35749320 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 35749320 35749320 C T SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2096 p.G699E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 44 8 15.38 48 0 0.00 MROH8 140699 genome.wustl.edu 37 20 35752160 35752160 + Nonsense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 35752160 35752160 G A SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known nonsense c.1828 p.R610* 0.081 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 67 11 14.10 55 0 0.00 MROH8 140699 genome.wustl.edu 37 20 35800374 35800374 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35800374 35800374 C T SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.466 p.E156K 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 80 20 20.00 69 0 0.00 C20orf166-AS1 253868 genome.wustl.edu 37 20 61143780 61143780 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 61143780 61143780 C T SNP C20orf166-AS1 ENST00000412495 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 112 17 13.08 73 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34110053 34110053 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 34110053 34110053 G C SNP C20orf173 ENST00000422009 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RP3-477O4.5 Clone_based_vega_gene ENSG00000242507 53 41 43.62 68 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34116570 34116570 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116570 34116570 T A SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.448 p.S150C 0.000 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 15 9 37.50 23 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34116651 34116651 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116651 34116651 G C SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.367 p.P123A 0.848 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 15 22 59.46 26 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34116795 34116795 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116795 34116795 G A SNP C20orf173 ENST00000246199 human ensembl 70_37 -1 known missense c.64 p.H22Y 0.001 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 41 35 46.05 49 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34116809 34116809 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116809 34116809 G T SNP C20orf173 ENST00000246199 human ensembl 70_37 -1 known missense c.50 p.P17H 0.001 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 36 33 47.83 45 0 0.00 C20orf173 140873 genome.wustl.edu 37 20 34117114 34117114 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 34117114 34117114 G A SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.89 p.S30L 0.000 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 64 12 15.79 86 0 0.00 C20orf187 728434 genome.wustl.edu 37 20 11008878 11008878 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 11008878 11008878 G C SNP C20orf187 ENST00000378252 human ensembl 70_37 +1 known missense c.83 p.G28A 0.001 NULL NULL - no_errors C20orf187 HGNC ENSG00000125899 46 15 24.59 41 0 0.00 C20orf194 25943 genome.wustl.edu 37 20 3233280 3233280 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 3233280 3233280 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.3472 p.E1158Q 0.997 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 37 15 28.85 48 0 0.00 C20orf194 25943 genome.wustl.edu 37 20 3268354 3268354 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3268354 3268354 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.2410 p.E804Q 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 88 32 26.67 53 0 0.00 C20orf194 25943 genome.wustl.edu 37 20 3340183 3340183 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 3340183 3340183 G C SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.670 p.L224V 0.995 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 68 10 12.82 56 0 0.00 C20orf194 25943 genome.wustl.edu 37 20 3354736 3354736 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3354736 3354736 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.571 p.E191Q 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 41 22 34.92 58 0 0.00 C20orf195 79025 genome.wustl.edu 37 20 62187146 62187146 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62187146 62187146 C T SNP C20orf195 ENST00000370097 human ensembl 70_37 +1 known missense c.130 p.R44C 0.217 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 28 15 34.88 53 0 0.00 C20orf195 79025 genome.wustl.edu 37 20 62187653 62187653 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 62187653 62187653 G C SNP C20orf195 ENST00000370097 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 61 35 36.46 84 0 0.00 C20orf196 149840 genome.wustl.edu 37 20 5753576 5753576 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 5753576 5753576 C T SNP C20orf196 ENST00000303142 human ensembl 70_37 +1 known missense c.65 p.S22L 0.002 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 74 11 12.94 49 0 0.00 C20orf196 149840 genome.wustl.edu 37 20 5753632 5753632 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 5753632 5753632 G A SNP C20orf196 ENST00000303142 human ensembl 70_37 +1 known missense c.121 p.E41K 0.017 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 41 15 26.79 36 0 0.00 C20orf196 149840 genome.wustl.edu 37 20 5753783 5753783 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 5753783 5753783 C G SNP C20orf196 ENST00000378979 human ensembl 70_37 +1 known missense c.184 p.L62V 0.003 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 19 9 32.14 21 0 0.00 C20orf24 55969 genome.wustl.edu 37 20 35238037 35238037 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 35238037 35238037 C G SNP C20orf24 ENST00000373852 human ensembl 70_37 +1 known silent c.252 p.L84 1.000 NULL NULL - no_errors C20orf24 HGNC ENSG00000101084 94 55 36.91 109 0 0.00 C20orf24 55969 genome.wustl.edu 37 20 35238065 35238065 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 35238065 35238065 G A SNP C20orf24 ENST00000373852 human ensembl 70_37 +1 known missense c.280 p.E94K 1.000 NULL NULL - no_errors C20orf24 HGNC ENSG00000101084 74 42 36.21 92 0 0.00 C20orf26 26074 genome.wustl.edu 37 20 20054995 20054995 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 20054995 20054995 C T SNP C20orf26 ENST00000245957 human ensembl 70_37 +1 known missense c.344 p.S115F 0.800 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 28 13 31.71 68 0 0.00 C20orf27 54976 genome.wustl.edu 37 20 3736209 3736209 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3736209 3736209 G C SNP C20orf27 ENST00000217195 human ensembl 70_37 -1 known missense c.283 p.L95V 0.998 NULL NULL - no_errors C20orf27 HGNC ENSG00000101220 33 42 56.00 40 0 0.00 C20orf62 140834 genome.wustl.edu 37 20 43090637 43090637 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 43090637 43090637 C T SNP C20orf62 ENST00000372910 human ensembl 70_37 -1 putative missense c.401 p.R134H 0.000 NULL NULL - no_errors C20orf62 HGNC ENSG00000168746 31 14 30.43 25 0 0.00 C20orf62 140834 genome.wustl.edu 37 20 43090648 43090648 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 43090648 43090648 C T SNP C20orf62 ENST00000372910 human ensembl 70_37 -1 putative silent c.390 p.L130 0.008 NULL NULL - no_errors C20orf62 HGNC ENSG00000168746 12 21 63.64 31 0 0.00 MGME1 92667 genome.wustl.edu 37 20 17950958 17950958 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 17950958 17950958 G A SNP C20orf72 ENST00000377710 human ensembl 70_37 +1 known nonsense c.456 p.W152* 1.000 NULL superfamily_Restrct_endonuc-II-like - no_errors C20orf72 HGNC ENSG00000125871 25 24 48.00 43 0 0.00 MGME1 92667 genome.wustl.edu 37 20 17956539 17956539 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 17956539 17956539 G C SNP C20orf72 ENST00000377710 human ensembl 70_37 +1 known missense c.724 p.E242Q 0.992 superfamily_Restrct_endonuc-II-like superfamily_Restrct_endonuc-II-like - no_errors C20orf72 HGNC ENSG00000125871 24 5 17.24 20 0 0.00 C20orf96 140680 genome.wustl.edu 37 20 257718 257718 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 257718 257718 C A SNP C20orf96 ENST00000360321 human ensembl 70_37 -1 known missense c.792 p.K264N 0.016 NULL NULL - no_errors C20orf96 HGNC ENSG00000196476 8 3 27.27 21 0 0.00 C21orf2 755 genome.wustl.edu 37 21 45758160 45758160 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 45758160 45758160 C T SNP C21orf2 ENST00000496321 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C21orf2 HGNC ENSG00000160226 24 8 25.00 11 0 0.00 C21orf33 8209 genome.wustl.edu 37 21 45561288 45561288 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 45561288 45561288 G C SNP C21orf33 ENST00000493883 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C21orf33 HGNC ENSG00000160221 33 8 19.51 55 0 0.00 C21orf49 54067 genome.wustl.edu 37 21 34157085 34157086 + Splice_Site INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 21 34157085 34157086 - T INS C21orf49 ENST00000454365 human ensembl 70_37 +1 known splice_site_ins c.1-1_0 e1-1 0.122:0.122 - - - no_errors C21orf49 HGNC ENSG00000205930 37 15 28.85 22 0 0.00 C21orf49 54067 genome.wustl.edu 37 21 34160945 34160945 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 34160945 34160945 C T SNP C21orf49 ENST00000382375 human ensembl 70_37 +1 known missense c.65 p.S22L 0.002 NULL NULL - no_errors C21orf49 HGNC ENSG00000205930 50 12 19.35 50 0 0.00 C21orf58 54058 genome.wustl.edu 37 21 47734872 47734872 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 47734872 47734872 C G SNP C21orf58 ENST00000397679 human ensembl 70_37 -1 novel missense c.49 p.E17Q 0.000 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 17 4 19.05 10 0 0.00 C21orf58 54058 genome.wustl.edu 37 21 47735421 47735421 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 47735421 47735421 C T SNP C21orf58 ENST00000291691 human ensembl 70_37 -1 known silent c.411 p.L137 0.994 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 39 17 30.36 47 0 0.00 C21orf59 56683 genome.wustl.edu 37 21 33982260 33982260 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 33982260 33982260 C T SNP C21orf59 ENST00000290155 human ensembl 70_37 -1 known silent c.195 p.L65 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 99 31 23.85 75 0 0.00 C21orf59 56683 genome.wustl.edu 37 21 33984523 33984523 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33984523 33984523 C G SNP C21orf59 ENST00000290155 human ensembl 70_37 -1 known missense c.31 p.E11Q 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 45 23 33.82 69 0 0.00 MAP3K7CL 56911 genome.wustl.edu 37 21 30547123 30547123 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 30547123 30547123 G T SNP C21orf7 ENST00000341618 human ensembl 70_37 +1 known missense c.639 p.E213D 1.000 NULL NULL - no_errors C21orf7 HGNC ENSG00000156265 50 9 15.25 76 0 0.00 C21orf88 114041 genome.wustl.edu 37 21 40969553 40969553 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 40969553 40969553 C A SNP C21orf88 ENST00000489821 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C21orf88 HGNC ENSG00000184809 18 6 25.00 32 0 0.00 C21orf88 114041 genome.wustl.edu 37 21 40971332 40971332 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 40971332 40971332 C T SNP C21orf88 ENST00000489821 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors C21orf88 HGNC ENSG00000184809 85 34 28.57 140 0 0.00 C21orf88 114041 genome.wustl.edu 37 21 40981555 40981555 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 40981555 40981555 C G SNP C21orf88 ENST00000380612 human ensembl 70_37 -1 putative missense c.107 p.R36T 0.000 NULL NULL - no_errors C21orf88 HGNC ENSG00000184809 46 20 30.30 72 0 0.00 C22orf23 84645 genome.wustl.edu 37 22 38343409 38343409 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 38343409 38343409 C A SNP C22orf23 ENST00000249079 human ensembl 70_37 -1 known missense c.228 p.K76N 0.076 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 94 18 16.07 81 0 0.00 TANGO2 128989 genome.wustl.edu 37 22 20030962 20030962 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20030962 20030962 C T SNP C22orf25 ENST00000456048 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 pfam_DUF833 pfam_DUF833 - no_errors C22orf25 HGNC ENSG00000183597 32 11 25.58 53 0 0.00 TANGO2 128989 genome.wustl.edu 37 22 20052087 20052087 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 20052087 20052087 G A SNP C22orf25 ENST00000456048 human ensembl 70_37 +1 known missense c.748 p.D250N 0.996 pfam_DUF833 pfam_DUF833 - no_errors C22orf25 HGNC ENSG00000183597 18 5 21.74 61 0 0.00 RTCB 51493 genome.wustl.edu 37 22 32791044 32791044 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 32791044 32791044 G A SNP C22orf28 ENST00000216038 human ensembl 70_37 -1 known missense c.1148 p.P383L 1.000 pfam_RtcB_family,superfamily_RtcB_family pfam_RtcB_family,superfamily_RtcB_family - no_errors C22orf28 HGNC ENSG00000100220 40 23 35.94 91 0 0.00 C22orf29 79680 genome.wustl.edu 37 22 19839483 19839483 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 19839483 19839483 C T SNP C22orf29 ENST00000328554 human ensembl 70_37 -1 known missense c.302 p.G101D 0.004 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 80 14 14.89 109 0 0.00 C22orf31 25770 genome.wustl.edu 37 22 29454963 29454963 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 22 29454963 29454963 G T SNP C22orf31 ENST00000216071 human ensembl 70_37 -1 known missense c.640 p.Q214K 0.142 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 34 4 10.53 37 0 0.00 C22orf31 25770 genome.wustl.edu 37 22 29456463 29456463 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 22 29456463 29456463 G A SNP C22orf31 ENST00000216071 human ensembl 70_37 -1 known silent c.372 p.F124 0.012 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 70 27 27.84 94 0 0.00 C22orf31 25770 genome.wustl.edu 37 22 29456577 29456577 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 29456577 29456577 C T SNP C22orf31 ENST00000216071 human ensembl 70_37 -1 known silent c.258 p.K86 0.993 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 30 25 45.45 67 0 0.00 C22orf34 348645 genome.wustl.edu 37 22 49834802 49834802 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 22 49834802 49834802 G A SNP C22orf34 ENST00000414287 human ensembl 70_37 -1 known missense c.115 p.R39C 0.001 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 44 15 25.42 53 0 0.00 C22orf46 79640 genome.wustl.edu 37 22 42089939 42089939 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 42089939 42089939 C T SNP C22orf46 ENST00000402966 human ensembl 70_37 +1 known missense c.689 p.S230L 0.547 NULL NULL - no_errors C22orf46 HGNC ENSG00000184208 22 6 21.43 15 0 0.00 C2CD2 25966 genome.wustl.edu 37 21 43325861 43325861 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325861 43325861 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.1404 p.V468 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 17 11 39.29 25 0 0.00 C2CD2 25966 genome.wustl.edu 37 21 43325882 43325882 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325882 43325882 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.1383 p.I461 0.328 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 19 13 40.62 21 0 0.00 C2CD2 25966 genome.wustl.edu 37 21 43325895 43325895 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325895 43325895 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known missense c.1370 p.S457F 0.932 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 14 12 44.44 23 0 0.00 C2CD2 25966 genome.wustl.edu 37 21 43334762 43334762 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43334762 43334762 C T SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.789 p.L263 0.157 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 46 13 22.03 53 0 0.00 C2CD2 25966 genome.wustl.edu 37 21 43334767 43334767 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 43334767 43334767 C T SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known missense c.784 p.E262K 0.865 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 44 49 52.69 71 0 0.00 C2CD2L 9854 genome.wustl.edu 37 11 118984878 118984878 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118984878 118984878 G A SNP C2CD2L ENST00000336702 human ensembl 70_37 +1 known missense c.1715 p.G572E 0.311 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC ENSG00000172375 34 19 35.85 45 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73745582 73745582 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73745582 73745582 C T SNP C2CD3 ENST00000540452 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors C2CD3 HGNC ENSG00000168014 55 19 25.68 52 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73748734 73748734 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 73748734 73748734 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.5670 p.L1890 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 16 6 27.27 15 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73785628 73785628 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 73785628 73785628 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.4621 p.G1541R 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 5 5 50.00 32 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73785637 73785637 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 73785637 73785637 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.4612 p.P1538A 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 31 10 24.39 31 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73814626 73814626 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 73814626 73814626 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.2130 p.I710M 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 23 24 51.06 40 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73825446 73825446 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 73825446 73825446 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.1713 p.V571 0.000 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 25 19 43.18 62 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73849868 73849868 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 73849868 73849868 C G SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.852 p.L284 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 23 21 47.73 21 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73849953 73849953 + Missense_Mutation SNP C C A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 73849953 73849953 C A SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.767 p.G256V 0.999 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 11 8 42.11 21 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73850738 73850738 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 73850738 73850738 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.619 p.Q207E 0.090 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 86 55 39.01 139 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73872475 73872475 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73872475 73872475 G A SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.452 p.S151L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 36 8 18.18 25 0 0.00 C2CD3 26005 genome.wustl.edu 37 11 73881827 73881827 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73881827 73881827 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.11 p.R4Q 0.948 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 28 17 37.78 44 0 0.00 C2CD4B 388125 genome.wustl.edu 37 15 62456157 62456157 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 62456157 62456157 G A SNP C2CD4B ENST00000380392 human ensembl 70_37 -1 known missense c.1027 p.R343C 0.272 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD4B HGNC ENSG00000205502 8 5 38.46 10 0 0.00 C2CD4D 100191040 genome.wustl.edu 37 1 151810551 151810551 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 151810551 151810551 C T SNP C2CD4D ENST00000454109 human ensembl 70_37 -1 known silent c.915 p.L305 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors C2CD4D HGNC ENSG00000225556 73 13 15.12 47 0 0.00 C2CD4D 100191040 genome.wustl.edu 37 1 151811322 151811322 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 151811322 151811322 G A SNP C2CD4D ENST00000454109 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors C2CD4D HGNC ENSG00000225556 15 11 42.31 16 0 0.00 C2orf15 150590 genome.wustl.edu 37 2 99767059 99767059 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99767059 99767059 C G SNP C2orf15 ENST00000302513 human ensembl 70_37 +1 known missense c.140 p.S47C 0.796 NULL NULL - no_errors C2orf15 HGNC ENSG00000241962 17 10 37.04 30 0 0.00 C2orf15 150590 genome.wustl.edu 37 2 99804685 99804685 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 99804685 99804685 C T SNP C2orf15 ENST00000424491 human ensembl 70_37 +1 known missense c.187 p.R63C 1.000 NULL pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like - no_errors C2orf15 HGNC ENSG00000241962 17 5 22.73 31 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27801949 27801949 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27801949 27801949 C T SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.2510 p.S837L 0.007 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 39 21 35.00 34 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27802541 27802541 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27802541 27802541 C G SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known silent c.3102 p.L1034 0.061 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 18 4 18.18 16 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27802554 27802554 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 27802554 27802554 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.3115 p.D1039N 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 163 35 17.59 204 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27803001 27803001 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 27803001 27803001 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.3562 p.V1188I 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 30 19 38.78 46 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27804010 27804010 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27804010 27804010 G C SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.4571 p.R1524T 0.361 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 24 14 36.84 40 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27804570 27804570 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 27804570 27804570 C T SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.5131 p.H1711Y 0.003 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 54 29 34.94 92 0 0.00 C2orf16 84226 genome.wustl.edu 37 2 27804955 27804955 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 27804955 27804955 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.5516 p.R1839H 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 67 10 12.99 67 0 0.00 C2orf27A 29798 genome.wustl.edu 37 2 132491337 132491337 + RNA SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 132491337 132491337 A G SNP C2orf27A ENST00000463645 human ensembl 70_37 +1 putative rna NULL NULL 0.101 - - - no_errors C2orf27A HGNC ENSG00000197927 34 5 12.82 32 0 0.00 CNOT11 55571 genome.wustl.edu 37 2 101869796 101869812 + Frame_Shift_Del DEL CGCCTCACGGCGCTCTA CGCCTCACGGCGCTCTA - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 CGCCTCACGGCGCTCTA CGCCTCACGGCGCTCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 101869796 101869812 CGCCTCACGGCGCTCTA - DEL C2orf29 ENST00000289382 human ensembl 70_37 +1 known frame_shift_del c.370_386 p.R124fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.839:1.000:1.000:0.977:1.000:1.000:1.000:1.000:1.000 NULL pfam_DUF2363 - no_errors C2orf29 HGNC ENSG00000158435 5 3 37.50 8 0 0.00 C2orf40 84417 genome.wustl.edu 37 2 106690478 106690478 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 106690478 106690478 C T SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known silent c.264 p.L88 0.999 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 45 11 19.64 32 0 0.00 C2orf40 84417 genome.wustl.edu 37 2 106694362 106694362 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 106694362 106694362 G A SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known missense c.427 p.V143I 0.999 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 32 10 23.81 35 0 0.00 C2orf40 84417 genome.wustl.edu 37 2 106694362 106694362 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 106694362 106694362 G A SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known missense c.427 p.V143I 0.999 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 48 8 14.29 76 0 0.00 C2orf42 54980 genome.wustl.edu 37 2 70408314 70408314 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 2 70408314 70408314 G T SNP C2orf42 ENST00000264434 human ensembl 70_37 -1 known missense c.804 p.F268L 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 27 22 44.90 61 0 0.00 C2orf42 54980 genome.wustl.edu 37 2 70408572 70408572 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 70408572 70408572 C T SNP C2orf42 ENST00000264434 human ensembl 70_37 -1 known silent c.546 p.Q182 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 21 6 22.22 9 0 0.00 C2orf43 60526 genome.wustl.edu 37 2 20901338 20901338 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 20901338 20901338 A C SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.778 p.L260V 0.063 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 42 5 10.64 83 0 0.00 C2orf43 60526 genome.wustl.edu 37 2 20901381 20901381 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 20901381 20901381 C T SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.735 p.M245I 0.986 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 43 28 39.44 82 0 0.00 C2orf43 60526 genome.wustl.edu 37 2 21001202 21001202 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21001202 21001202 C T SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.22 p.E8K 0.889 NULL pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 20 6 22.22 33 0 0.00 C2orf44 80304 genome.wustl.edu 37 2 24260744 24260744 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 24260744 24260744 G A SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.1621 p.R541C 0.000 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 38 24 38.10 39 0 0.00 C2orf44 80304 genome.wustl.edu 37 2 24261115 24261115 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24261115 24261115 G A SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.1250 p.S417L 1.000 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 53 16 23.19 71 0 0.00 C2orf44 80304 genome.wustl.edu 37 2 24261742 24261742 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24261742 24261742 G C SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.623 p.S208C 1.000 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 18 9 33.33 25 0 0.00 C2orf49 79074 genome.wustl.edu 37 2 105953938 105953939 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 105953938 105953939 - C INS C2orf49 ENST00000437250 human ensembl 70_37 +1 known frame_shift_ins c.8_9 p.L4fs 0.881:0.072 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 6 4 40.00 8 0 0.00 C2orf49 79074 genome.wustl.edu 37 2 105954032 105954032 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 105954032 105954032 C G SNP C2orf49 ENST00000437250 human ensembl 70_37 +1 known silent c.102 p.L34 1.000 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 35 13 27.08 44 0 0.00 C2orf49 79074 genome.wustl.edu 37 2 105954074 105954074 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 105954074 105954074 C T SNP C2orf49 ENST00000258457 human ensembl 70_37 +1 known silent c.30 p.C10 0.106 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 23 12 34.29 28 0 0.00 C2orf49 79074 genome.wustl.edu 37 2 105954074 105954074 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 105954074 105954074 C T SNP C2orf49 ENST00000258457 human ensembl 70_37 +1 known silent c.30 p.C10 0.106 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 26 6 18.18 15 0 0.00 C2orf53 339779 genome.wustl.edu 37 2 27361043 27361043 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 27361043 27361043 G C SNP C2orf53 ENST00000335524 human ensembl 70_37 -1 known missense c.155 p.S52C 0.003 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 27 11 28.95 51 0 0.00 C2orf53 339779 genome.wustl.edu 37 2 27361136 27361136 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 2 27361136 27361136 G T SNP C2orf53 ENST00000335524 human ensembl 70_37 -1 known missense c.62 p.T21N 0.000 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 29 4 12.12 42 0 0.00 C2orf54 79919 genome.wustl.edu 37 2 241830999 241830999 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 241830999 241830999 G A SNP C2orf54 ENST00000388934 human ensembl 70_37 -1 known silent c.696 p.L232 0.000 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 23 3 11.54 30 0 0.00 C2orf54 79919 genome.wustl.edu 37 2 241831156 241831156 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 241831156 241831156 C G SNP C2orf54 ENST00000388934 human ensembl 70_37 -1 known missense c.539 p.R180T 0.023 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 41 33 44.59 81 0 0.00 C2orf62 375307 genome.wustl.edu 37 2 219227621 219227621 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 219227621 219227621 C A SNP C2orf62 ENST00000289388 human ensembl 70_37 +1 known missense c.626 p.T209N 0.996 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 54 17 23.94 52 0 0.00 C2orf68 388969 genome.wustl.edu 37 2 85838418 85838418 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 85838418 85838418 G A SNP C2orf68 ENST00000478626 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors C2orf68 HGNC ENSG00000168887 45 30 40.00 34 0 0.00 C2orf68 388969 genome.wustl.edu 37 2 85838793 85838793 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 85838793 85838793 C T SNP C2orf68 ENST00000306336 human ensembl 70_37 -1 known missense c.224 p.R75Q 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 43 6 12.24 48 0 0.00 C2orf68 388969 genome.wustl.edu 37 2 85838864 85838864 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 85838864 85838864 C G SNP C2orf68 ENST00000306336 human ensembl 70_37 -1 known silent c.153 p.V51 0.991 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 33 10 23.26 18 0 0.00 C2orf71 388939 genome.wustl.edu 37 2 29287839 29287839 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 29287839 29287839 C G SNP C2orf71 ENST00000331664 human ensembl 70_37 -1 novel missense c.3763 p.E1255Q 0.987 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 45 12 21.05 41 0 0.00 C2orf71 388939 genome.wustl.edu 37 2 29294044 29294044 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 29294044 29294044 C T SNP C2orf71 ENST00000331664 human ensembl 70_37 -1 novel silent c.3084 p.T1028 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 14 3 17.65 23 0 0.00 C2orf73 129852 genome.wustl.edu 37 2 54587431 54587431 + Nonsense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 54587431 54587431 C G SNP C2orf73 ENST00000398634 human ensembl 70_37 +1 known nonsense c.596 p.S199* 0.031 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 19 9 32.14 33 0 0.00 C2orf73 129852 genome.wustl.edu 37 2 54587459 54587460 + Frame_Shift_Del DEL AG AG - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 54587459 54587460 AG - DEL C2orf73 ENST00000398634 human ensembl 70_37 +1 known frame_shift_del c.624_625 p.K210fs 1.000:1.000 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 38 31 44.93 43 0 0.00 C2orf73 129852 genome.wustl.edu 37 2 54587518 54587518 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54587518 54587518 C A SNP C2orf73 ENST00000398634 human ensembl 70_37 +1 known missense c.683 p.S228Y 0.999 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 3 7 70.00 19 0 0.00 C2orf74 339804 genome.wustl.edu 37 2 61390202 61390202 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 61390202 61390202 C T SNP C2orf74 ENST00000432605 human ensembl 70_37 +1 known silent c.246 p.V82 0.000 NULL NULL - no_errors C2orf74 HGNC ENSG00000237651 37 6 13.95 29 0 0.00 C2orf76 130355 genome.wustl.edu 37 2 120069238 120069238 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 120069238 120069238 G C SNP C2orf76 ENST00000334816 human ensembl 70_37 -1 known silent c.264 p.L88 0.982 pfam_UPF0538 pfam_UPF0538 - no_errors C2orf76 HGNC ENSG00000186132 26 7 21.21 43 0 0.00 C2orf78 388960 genome.wustl.edu 37 2 74041326 74041326 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 74041326 74041326 C G SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.820 p.Q274E 0.985 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 193 61 24.02 210 0 0.00 C2orf78 388960 genome.wustl.edu 37 2 74044086 74044086 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 74044086 74044086 G T SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.2736 p.M912I 0.002 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 28 4 12.50 32 0 0.00 C2orf78 388960 genome.wustl.edu 37 2 74044096 74044096 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74044096 74044096 G C SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.2746 p.E916Q 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 26 8 23.53 26 0 0.00 C2orf81 388963 genome.wustl.edu 37 2 74642114 74642114 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 74642114 74642114 G A SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.1109 p.S370F 0.000 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 8 8 50.00 13 0 0.00 C2orf81 388963 genome.wustl.edu 37 2 74642294 74642294 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74642294 74642294 G C SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.929 p.S310C 0.003 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 2 5 71.43 11 0 0.00 C2orf81 388963 genome.wustl.edu 37 2 74642323 74642323 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74642323 74642323 G C SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.900 p.I300M 0.000 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 6 6 50.00 14 0 0.00 C2orf81 388963 genome.wustl.edu 37 2 74642549 74642549 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74642549 74642549 G A SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.674 p.S225L 0.000 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 13 4 23.53 22 0 0.00 C2orf91 400950 genome.wustl.edu 37 2 42180244 42180244 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 42180244 42180244 G A SNP C2orf91 ENST00000378711 human ensembl 70_37 -1 novel silent c.192 p.L64 0.001 NULL NULL - no_errors C2orf91 HGNC ENSG00000205086 138 17 10.97 112 0 0.00 C3 718 genome.wustl.edu 37 19 6678219 6678219 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6678219 6678219 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.4794 p.E1598D 0.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 44 31 40.79 62 0 0.00 C3 718 genome.wustl.edu 37 19 6679458 6679458 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 6679458 6679458 C T SNP C3 ENST00000245907 human ensembl 70_37 -1 known silent c.4506 p.L1502 0.005 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 16 6 27.27 36 0 0.00 C3 718 genome.wustl.edu 37 19 6694617 6694617 + Missense_Mutation SNP A A C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 6694617 6694617 A C SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2979 p.D993E 0.008 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 25 11 30.56 24 0 0.00 C3 718 genome.wustl.edu 37 19 6694622 6694622 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 6694622 6694622 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2974 p.E992Q 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 24 11 31.43 26 0 0.00 C3 718 genome.wustl.edu 37 19 6696657 6696657 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 6696657 6696657 C A SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2810 p.R937I 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 15 4 21.05 28 0 0.00 C3 718 genome.wustl.edu 37 19 6707526 6707526 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 6707526 6707526 G A SNP C3 ENST00000245907 human ensembl 70_37 -1 known silent c.1998 p.A666 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 32 6 15.79 34 0 0.00 C3 718 genome.wustl.edu 37 19 6707916 6707916 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6707916 6707916 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.1870 p.D624H 0.999 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 39 35 47.30 56 0 0.00 C3 718 genome.wustl.edu 37 19 6713311 6713311 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 6713311 6713311 C A SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.892 p.G298W 0.906 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 23 4 14.81 25 0 0.00 C3orf14 57415 genome.wustl.edu 37 3 62306187 62306187 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62306187 62306187 G T SNP C3orf14 ENST00000232519 human ensembl 70_37 +1 known missense c.41 p.R14I 1.000 NULL NULL - no_errors C3orf14 HGNC ENSG00000114405 11 5 31.25 13 0 0.00 C3orf14 57415 genome.wustl.edu 37 3 62317015 62317015 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 62317015 62317015 G A SNP C3orf14 ENST00000232519 human ensembl 70_37 +1 known missense c.193 p.E65K 0.997 NULL NULL - no_errors C3orf14 HGNC ENSG00000114405 53 7 11.67 25 0 0.00 C3orf17 25871 genome.wustl.edu 37 3 112724777 112724777 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112724777 112724777 G C SNP C3orf17 ENST00000314400 human ensembl 70_37 -1 known nonsense c.1310 p.S437* 1.000 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 24 8 25.00 16 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14731503 14731503 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 14731503 14731503 G C SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known splice_site c.626-1 e3-1 0.553 - - - no_errors C3orf20 HGNC ENSG00000131379 31 23 42.59 35 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14744739 14744739 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 14744739 14744739 G A SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.848 p.R283Q 1.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 58 24 29.27 44 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14746084 14746084 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 14746084 14746084 C G SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.1119 p.F373L 0.822 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 51 20 28.17 65 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14770064 14770064 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14770064 14770064 T C SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known silent c.1809 p.S603 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 35 12 25.00 61 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14798948 14798948 + Missense_Mutation SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 14798948 14798948 C T SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.2011 p.R671W 1.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 54 12 18.18 82 0 0.00 C3orf20 84077 genome.wustl.edu 37 3 14813664 14813664 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 14813664 14813664 C T SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known silent c.2586 p.A862 0.001 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 21 17 44.74 35 0 0.00 C3orf27 23434 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 70_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 31 4 11.43 27 0 0.00 C3orf27 23434 genome.wustl.edu 37 3 128292326 128292326 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 128292326 128292326 C G SNP C3orf27 ENST00000356020 human ensembl 70_37 -1 known missense c.247 p.E83Q 0.047 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 11 5 31.25 23 0 0.00 C3orf27 23434 genome.wustl.edu 37 3 128292452 128292452 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 128292452 128292452 G A SNP C3orf27 ENST00000356020 human ensembl 70_37 -1 known silent c.121 p.L41 0.000 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 60 13 17.81 43 0 0.00 C3orf30 152405 genome.wustl.edu 37 3 118865512 118865512 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 118865512 118865512 C A SNP C3orf30 ENST00000295622 human ensembl 70_37 +1 known missense c.476 p.S159Y 0.022 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 93 27 22.50 98 0 0.00 C3orf35 339883 genome.wustl.edu 37 3 37458809 37458809 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37458809 37458809 G C SNP C3orf35 ENST00000328376 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.405 NULL NULL - no_errors C3orf35 HGNC ENSG00000198590 27 20 42.55 17 0 0.00 C3orf36 80111 genome.wustl.edu 37 3 133647582 133647582 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 133647582 133647582 G A SNP C3orf36 ENST00000408895 human ensembl 70_37 -1 known silent c.66 p.L22 0.001 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 82 25 23.36 101 0 0.00 C3orf37 56941 genome.wustl.edu 37 3 129007710 129007710 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129007710 129007710 C T SNP C3orf37 ENST00000383463 human ensembl 70_37 +1 known missense c.197 p.S66F 1.000 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC ENSG00000183624 81 28 25.69 72 0 0.00 C3orf37 56941 genome.wustl.edu 37 3 129007720 129007720 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129007720 129007720 C T SNP C3orf37 ENST00000383463 human ensembl 70_37 +1 known silent c.207 p.I69 0.705 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC ENSG00000183624 75 31 28.97 70 0 0.00 SMCO1 255798 genome.wustl.edu 37 3 196241994 196241994 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 196241994 196241994 G A SNP C3orf43 ENST00000452776 human ensembl 70_37 -1 known silent c.87 p.V29 0.009 NULL NULL - no_errors C3orf43 HGNC ENSG00000214097 69 10 12.66 41 0 0.00 C3orf49 132200 genome.wustl.edu 37 3 63813388 63813388 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 63813388 63813388 C T SNP C3orf49 ENST00000295896 human ensembl 70_37 +1 known missense c.557 p.S186L 0.856 NULL NULL - no_errors C3orf49 HGNC ENSG00000163632 21 11 34.38 40 0 0.00 C3orf49 132200 genome.wustl.edu 37 3 63816799 63816800 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 63816799 63816800 - A INS C3orf49 ENST00000295896 human ensembl 70_37 +1 known frame_shift_ins c.584_585 p.R198fs 0.982:0.981 NULL NULL - no_errors C3orf49 HGNC ENSG00000163632 46 20 30.30 51 0 0.00 C3orf52 79669 genome.wustl.edu 37 3 111835488 111835488 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 111835488 111835488 G C SNP C3orf52 ENST00000431717 human ensembl 70_37 +1 known splice_site c.397-1 e4-1 1.000 - - - no_errors C3orf52 HGNC ENSG00000114529 14 17 54.84 35 0 0.00 C3orf55 152078 genome.wustl.edu 37 3 157318145 157318145 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 157318145 157318145 C G SNP C3orf55 ENST00000426338 human ensembl 70_37 +1 known missense c.377 p.S126C 0.029 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 61 9 12.50 36 0 0.00 C3orf58 205428 genome.wustl.edu 37 3 143691757 143691757 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 143691757 143691757 C T SNP C3orf58 ENST00000315691 human ensembl 70_37 +1 known missense c.583 p.R195C 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 8 6 42.86 8 0 0.00 C3orf67 200844 genome.wustl.edu 37 3 58817516 58817516 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 58817516 58817516 C A SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.1696 p.A566S 0.000 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 43 16 27.12 54 0 0.00 C3orf67 200844 genome.wustl.edu 37 3 58849304 58849304 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 58849304 58849304 C T SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.1198 p.G400S 0.028 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 26 12 31.58 25 0 0.00 C3orf67 200844 genome.wustl.edu 37 3 58852388 58852388 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58852388 58852388 C G SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.787 p.E263Q 0.591 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 56 40 41.67 84 0 0.00 C3orf67 200844 genome.wustl.edu 37 3 58898469 58898469 + Splice_Site SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 58898469 58898469 C T SNP C3orf67 ENST00000479931 human ensembl 70_37 -1 known splice_site c.551-1 e7-1 0.017 - - - no_errors C3orf67 HGNC ENSG00000163689 86 52 37.68 67 0 0.00 C3orf70 285382 genome.wustl.edu 37 3 184800813 184800813 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 184800813 184800813 C T SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known silent c.735 p.T245 0.000 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 46 6 11.54 58 0 0.00 C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 33 11 24.44 21 0 0.00 C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 61 10 14.08 22 0 0.00 C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 184870595 184870595 G C SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6W 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 25 10 28.57 20 0 0.00 C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 184870595 184870595 G T SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 11 11 47.83 36 0 0.00 C3orf79 152118 genome.wustl.edu 37 3 153202446 153202446 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 153202446 153202446 C T SNP C3orf79 ENST00000446603 human ensembl 70_37 +1 known missense c.101 p.S34L 0.960 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 372 52 12.26 310 0 0.00 C4A 720 genome.wustl.edu 37 6 31963801 31963801 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31963801 31963801 G T SNP C4A ENST00000428956 human ensembl 70_37 +1 known silent c.3300 p.L1100 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4A HGNC ENSG00000244731 24 13 35.14 54 0 0.00 C4B 721 genome.wustl.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 31996297 31996297 G A SNP C4B ENST00000435363 human ensembl 70_37 +1 known missense c.3218 p.G1073D 0.060 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4B HGNC ENSG00000224389 17 4 19.05 55 0 0.00 C4B 721 genome.wustl.edu 37 6 31997361 31997361 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 31997361 31997361 C T SNP C4B ENST00000435363 human ensembl 70_37 +1 known missense c.3695 p.S1232L 0.018 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4B HGNC ENSG00000224389 23 8 25.81 59 0 0.00 C4BPA 722 genome.wustl.edu 37 1 207297628 207297628 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207297628 207297628 C A SNP C4BPA ENST00000367070 human ensembl 70_37 +1 known nonsense c.623 p.S208* 0.329 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 19 4 17.39 69 0 0.00 C4BPA 722 genome.wustl.edu 37 1 207307836 207307836 + Missense_Mutation SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 207307836 207307836 A G SNP C4BPA ENST00000367070 human ensembl 70_37 +1 known missense c.1172 p.Y391C 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 29 28 49.12 56 0 0.00 C4orf19 55286 genome.wustl.edu 37 4 37592147 37592147 + Missense_Mutation SNP T T A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 37592147 37592147 T A SNP C4orf19 ENST00000284437 human ensembl 70_37 +1 known missense c.470 p.V157D 0.001 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 8 16 66.67 16 0 0.00 C4orf19 55286 genome.wustl.edu 37 4 37592364 37592364 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 37592364 37592364 G C SNP C4orf19 ENST00000284437 human ensembl 70_37 +1 known missense c.687 p.L229F 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 26 17 39.53 28 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113460799 113460799 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 113460799 113460799 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.6219 p.L2073 0.993 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 34 9 20.93 73 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113461126 113461127 + Frame_Shift_Ins INS - - T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 113461126 113461127 - T INS C4orf21 ENST00000505019 human ensembl 70_37 -1 known frame_shift_ins c.6065_6064 p.R2022fs 1.000:0.990 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 54 22 28.95 77 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113462071 113462071 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113462071 113462071 G A SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.5816 p.T1939M 0.225 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 15 12 44.44 37 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113474997 113474997 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 113474997 113474997 C T SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.5340 p.L1780 0.202 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 38 21 35.59 50 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113482022 113482022 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 113482022 113482022 C T SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.4827 p.L1609 0.044 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 81 15 15.62 87 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113483555 113483555 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 113483555 113483555 G C SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.4669 p.L1557V 0.968 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 41 19 31.67 42 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113508633 113508633 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 113508633 113508633 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.3580 p.E1194Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 19 16 45.71 37 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113508645 113508645 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 113508645 113508645 C A SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.3568 p.D1190Y 0.001 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 12 3 20.00 36 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113510989 113510989 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113510989 113510989 A C SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.3018 p.V1006 0.178 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 15 17 53.12 56 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113538800 113538800 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 113538800 113538800 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.2398 p.E800Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 45 12 21.05 65 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113538800 113538800 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 113538800 113538800 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.2398 p.E800Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 31 30 49.18 32 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113538928 113538928 + Frame_Shift_Del DEL T T - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 113538928 113538928 T - DEL C4orf21 ENST00000505019 human ensembl 70_37 -1 known frame_shift_del c.2270 p.N757fs 0.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 11 2 15.38 43 0 0.00 C4orf21 55345 genome.wustl.edu 37 4 113541344 113541344 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 4 113541344 113541344 C T SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.165 p.V55 1.000 pfam_DUF2439 pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 16 7 30.43 21 0 0.00 C4orf29 80167 genome.wustl.edu 37 4 128930140 128930140 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 128930140 128930140 G A SNP C4orf29 ENST00000398965 human ensembl 70_37 +1 known missense c.344 p.G115E 1.000 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 59 22 27.16 67 0 0.00 C4orf29 80167 genome.wustl.edu 37 4 128949726 128949726 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 128949726 128949726 T G SNP C4orf29 ENST00000398965 human ensembl 70_37 +1 known missense c.796 p.L266V 0.491 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 8 5 38.46 25 0 0.00 C4orf3 401152 genome.wustl.edu 37 4 120219935 120219935 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 120219935 120219935 C T SNP C4orf3 ENST00000399075 human ensembl 70_37 -1 known splice_site c.600-1 e3-1 0.929 - - - no_errors C4orf3 HGNC ENSG00000164096 38 6 13.64 67 0 0.00 C4orf3 401152 genome.wustl.edu 37 4 120221707 120221707 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 120221707 120221707 C T SNP C4orf3 ENST00000399075 human ensembl 70_37 -1 known missense c.383 p.R128Q 0.000 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 39 13 25.00 55 0 0.00 SMIM14 201895 genome.wustl.edu 37 4 39553345 39553345 + RNA DEL G G - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 39553345 39553345 G - DEL C4orf34 ENST00000512441 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C4orf34 HGNC ENSG00000163683 9 5 35.71 23 0 0.00 SMIM14 201895 genome.wustl.edu 37 4 39553616 39553616 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 39553616 39553616 G A SNP C4orf34 ENST00000510628 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors C4orf34 HGNC ENSG00000163683 34 12 26.09 37 0 0.00 SMIM14 201895 genome.wustl.edu 37 4 39558162 39558162 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 39558162 39558162 G C SNP C4orf34 ENST00000507613 human ensembl 70_37 -1 known nonsense c.104 p.S35* 1.000 NULL pfam_Uncharacterised_CD034/YQF4 - no_errors C4orf34 HGNC ENSG00000163683 25 14 35.90 45 0 0.00 SMIM14 201895 genome.wustl.edu 37 4 39606751 39606751 + Silent SNP T T C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 4 39606751 39606751 T C SNP C4orf34 ENST00000295958 human ensembl 70_37 -1 known silent c.15 p.G5 1.000 pfam_Uncharacterised_CD034/YQF4 pfam_Uncharacterised_CD034/YQF4 - no_errors C4orf34 HGNC ENSG00000163683 26 18 40.91 65 0 0.00 C4orf36 132989 genome.wustl.edu 37 4 87809014 87809014 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 87809014 87809014 G A SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known missense c.253 p.R85C 1.000 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 15 6 28.57 34 0 0.00 C4orf36 132989 genome.wustl.edu 37 4 87809368 87809368 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 87809368 87809368 G T SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known silent c.126 p.I42 0.001 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 15 3 16.67 31 0 0.00 C4orf36 132989 genome.wustl.edu 37 4 87809429 87809429 + Splice_Site SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 87809429 87809429 C G SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known splice_site c.66-1 e2-1 1.000 - - - no_errors C4orf36 HGNC ENSG00000163633 18 7 28.00 29 0 0.00 C4orf40 401137 genome.wustl.edu 37 4 71008261 71008261 + RNA SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 71008261 71008261 C G SNP C4orf40 ENST00000502441 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C4orf40 HGNC ENSG00000187533 14 8 36.36 41 0 0.00 C4orf46 201725 genome.wustl.edu 37 4 159592830 159592830 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 159592830 159592830 G A SNP C4orf46 ENST00000379205 human ensembl 70_37 -1 known missense c.124 p.P42S 0.088 NULL NULL - no_errors C4orf46 HGNC ENSG00000205208 41 22 34.92 71 0 0.00 C4orf47 441054 genome.wustl.edu 37 4 186357251 186357251 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 186357251 186357251 C T SNP C4orf47 ENST00000378850 human ensembl 70_37 +1 known silent c.372 p.F124 1.000 NULL NULL - no_errors C4orf47 HGNC ENSG00000205129 14 12 46.15 15 0 0.00 C4orf50 389197 genome.wustl.edu 37 4 5990869 5990870 + Frame_Shift_Del DEL CT CT - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 4 5990869 5990870 CT - DEL C4orf50 ENST00000531445 human ensembl 70_37 -1 known frame_shift_del c.630_629 p.E210fs 0.000:0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 23 4 14.81 45 0 0.00 C4orf51 646603 genome.wustl.edu 37 4 146617722 146617722 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146617722 146617722 C A SNP C4orf51 ENST00000438731 human ensembl 70_37 +1 known missense c.245 p.T82K 0.001 NULL NULL - no_errors C4orf51 HGNC ENSG00000237136 32 17 34.69 58 0 0.00 SMIM20 389203 genome.wustl.edu 37 4 25930793 25930793 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 25930793 25930793 G C SNP C4orf52 ENST00000506197 human ensembl 70_37 +1 known missense c.184 p.D62H 0.997 NULL NULL - no_errors C4orf52 HGNC ENSG00000250317 40 23 36.51 84 0 0.00 C5 727 genome.wustl.edu 37 9 123734236 123734236 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 123734236 123734236 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.4052 p.G1351E 0.966 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 42 11 20.75 37 0 0.00 C5 727 genome.wustl.edu 37 9 123737059 123737059 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 123737059 123737059 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.4015 p.E1339K 0.997 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 84 20 19.23 65 0 0.00 C5 727 genome.wustl.edu 37 9 123783960 123783960 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 123783960 123783960 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.1129 p.D377N 0.943 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 51 20 28.17 76 0 0.00 C5 727 genome.wustl.edu 37 9 123800210 123800210 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 123800210 123800210 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known silent c.441 p.S147 0.663 pfam_A2M_N pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 62 17 21.52 69 0 0.00 C5AR1 728 genome.wustl.edu 37 19 47823375 47823375 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47823375 47823375 C T SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known missense c.341 p.S114F 0.850 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC ENSG00000197405 49 35 41.67 66 0 0.00 C5AR1 728 genome.wustl.edu 37 19 47823477 47823477 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 47823477 47823477 G A SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known missense c.443 p.R148Q 0.882 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC ENSG00000197405 76 33 30.00 111 0 0.00 C5AR1 728 genome.wustl.edu 37 19 47823991 47823991 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 47823991 47823991 C T SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known silent c.957 p.L319 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC ENSG00000197405 60 13 17.81 49 0 0.00 C5orf20 140947 genome.wustl.edu 37 5 134782257 134782257 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 134782257 134782257 G A SNP C5orf20 ENST00000503143 human ensembl 70_37 -1 known missense c.542 p.S181L 0.002 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 13 16 55.17 84 0 0.00 C5orf22 55322 genome.wustl.edu 37 5 31534505 31534505 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 31534505 31534505 G C SNP C5orf22 ENST00000325366 human ensembl 70_37 +1 known missense c.208 p.D70H 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 143 19 11.73 112 0 0.00 C5orf22 55322 genome.wustl.edu 37 5 31552926 31552926 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 31552926 31552926 C G SNP C5orf22 ENST00000325366 human ensembl 70_37 +1 known missense c.1246 p.Q416E 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 80 28 25.93 38 0 0.00 C5orf34 375444 genome.wustl.edu 37 5 43506470 43506470 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 43506470 43506470 C T SNP C5orf34 ENST00000306862 human ensembl 70_37 -1 known silent c.312 p.V104 0.012 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 6 11 64.71 15 0 0.00 C5orf34 375444 genome.wustl.edu 37 5 43509274 43509274 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 43509274 43509274 C G SNP C5orf34 ENST00000306862 human ensembl 70_37 -1 known missense c.168 p.R56S 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 46 10 17.86 59 0 0.00 C5orf38 153571 genome.wustl.edu 37 5 2752434 2752434 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 2752434 2752434 C T SNP C5orf38 ENST00000334000 human ensembl 70_37 +1 known missense c.56 p.S19F 0.118 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 8 3 27.27 30 0 0.00 C5orf38 153571 genome.wustl.edu 37 5 2755148 2755148 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 2755148 2755148 G T SNP C5orf38 ENST00000334000 human ensembl 70_37 +1 known missense c.410 p.R137I 0.005 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 11 12 52.17 65 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37121812 37121812 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 37121812 37121812 G A SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8930 p.S2977L 0.365 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 106 31 22.46 129 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37125461 37125461 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37125461 37125461 C G SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8681 p.R2894T 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 131 44 25.14 160 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37138831 37138831 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 37138831 37138831 C T SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8621 p.G2874D 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 61 19 23.75 38 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37183126 37183126 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 37183126 37183126 G C SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.5157 p.F1719L 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 21 8 27.59 27 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37183701 37183701 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37183701 37183701 C T SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.4582 p.E1528K 0.391 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 25 19 43.18 23 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37196095 37196095 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 37196095 37196095 G A SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known nonsense c.3676 p.R1226* 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 64 12 15.79 52 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37224796 37224796 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37224796 37224796 G C SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.2338 p.Q780E 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 38 11 22.45 47 0 0.00 C5orf42 65250 genome.wustl.edu 37 5 37226650 37226650 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 37226650 37226650 C G SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.2047 p.E683Q 0.963 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 63 17 21.25 41 0 0.00 C5orf45 51149 genome.wustl.edu 37 5 179280283 179280283 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 179280283 179280283 G C SNP C5orf45 ENST00000522157 human ensembl 70_37 -1 known nonsense c.221 p.S74* 0.002 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 30 10 25.00 45 0 0.00 C5orf45 51149 genome.wustl.edu 37 5 179280429 179280429 + Nonsense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 179280429 179280429 C A SNP C5orf45 ENST00000403396 human ensembl 70_37 -1 known nonsense c.121 p.E41* 0.997 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 26 9 25.71 23 0 0.00 C5orf46 389336 genome.wustl.edu 37 5 147281297 147281297 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 147281297 147281297 G T SNP C5orf46 ENST00000318315 human ensembl 70_37 -1 known nonsense c.110 p.S37* 0.801 NULL NULL - no_errors C5orf46 HGNC ENSG00000178776 36 13 26.53 37 0 0.00 C5orf54 63920 genome.wustl.edu 37 5 159820772 159820773 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 159820772 159820773 - T INS C5orf54 ENST00000408953 human ensembl 70_37 -1 known frame_shift_ins c.1726_1725 p.V575fs 1.000:1.000 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 27 20 42.55 42 0 0.00 C5orf54 63920 genome.wustl.edu 37 5 159821108 159821108 + Missense_Mutation SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 5 159821108 159821108 T C SNP C5orf54 ENST00000408953 human ensembl 70_37 -1 known missense c.1390 p.I464V 0.106 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 96 58 37.42 147 0 0.00 C5orf56 441108 genome.wustl.edu 37 5 131792780 131792780 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 131792780 131792780 G A SNP C5orf56 ENST00000378947 human ensembl 70_37 +1 novel silent c.165 p.R55 0.000 NULL NULL - no_errors C5orf56 HGNC ENSG00000197536 15 9 37.50 26 0 0.00 C5orf56 441108 genome.wustl.edu 37 5 131796346 131796346 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 131796346 131796346 G C SNP C5orf56 ENST00000337752 human ensembl 70_37 +1 novel missense c.181 p.E61Q 0.005 NULL NULL - no_errors C5orf56 HGNC ENSG00000197536 56 16 21.92 48 0 0.00 C5orf56 441108 genome.wustl.edu 37 5 131796532 131796532 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 131796532 131796532 G A SNP C5orf56 ENST00000337752 human ensembl 70_37 +1 novel missense c.367 p.E123K 0.000 NULL NULL - no_errors C5orf56 HGNC ENSG00000197536 14 8 36.36 23 0 0.00 C5orf56 441108 genome.wustl.edu 37 5 131811683 131811683 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 131811683 131811683 C T SNP C5orf56 ENST00000464024 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors C5orf56 HGNC ENSG00000197536 52 8 13.33 67 0 0.00 C5orf64 285668 genome.wustl.edu 37 5 60982894 60982894 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 60982894 60982894 C G SNP C5orf64 ENST00000313303 human ensembl 70_37 +1 known missense c.222 p.F74L 0.000 NULL NULL - no_errors C5orf64 HGNC ENSG00000178722 27 13 32.50 47 0 0.00 C6 729 genome.wustl.edu 37 5 41149429 41149429 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 41149429 41149429 C T SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.2537 p.G846D 0.988 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 118 29 19.73 75 0 0.00 C6 729 genome.wustl.edu 37 5 41172399 41172399 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 41172399 41172399 G A SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.1219 p.R407C 0.587 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 56 27 32.53 74 0 0.00 C6 729 genome.wustl.edu 37 5 41176670 41176670 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 41176670 41176670 C G SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.1075 p.D359H 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 16 5 23.81 29 0 0.00 C6 729 genome.wustl.edu 37 5 41176763 41176763 + Nonsense_Mutation SNP T T A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 5 41176763 41176763 T A SNP C6 ENST00000263413 human ensembl 70_37 -1 known nonsense c.982 p.K328* 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 28 25 47.17 66 0 0.00 C6 729 genome.wustl.edu 37 5 41201697 41201697 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 41201697 41201697 C T SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.263 p.G88E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 16 15 48.39 29 0 0.00 C6orf1 221491 genome.wustl.edu 37 6 34214351 34214351 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 34214351 34214351 G A SNP C6orf1 ENST00000394990 human ensembl 70_37 -1 known silent c.420 p.L140 0.001 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 18 4 18.18 29 0 0.00 C6orf10 10665 genome.wustl.edu 37 6 32261158 32261158 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32261158 32261158 G T SNP C6orf10 ENST00000447241 human ensembl 70_37 -1 known missense c.1292 p.T431N 0.018 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 114 14 10.94 186 0 0.00 C6orf10 10665 genome.wustl.edu 37 6 32261210 32261210 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32261210 32261210 C G SNP C6orf10 ENST00000447241 human ensembl 70_37 -1 known missense c.1240 p.E414Q 0.039 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 39 17 30.36 34 0 0.00 DNPH1 10591 genome.wustl.edu 37 6 43193806 43193806 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 43193806 43193806 C T SNP C6orf108 ENST00000230431 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.007 pfam_Nucleoside_deoxyribTrfase pfam_Nucleoside_deoxyribTrfase - no_errors C6orf108 HGNC ENSG00000112667 17 23 57.50 53 0 0.00 DNPH1 10591 genome.wustl.edu 37 6 43193806 43193806 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 43193806 43193806 C T SNP C6orf108 ENST00000230431 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.007 pfam_Nucleoside_deoxyribTrfase pfam_Nucleoside_deoxyribTrfase - no_errors C6orf108 HGNC ENSG00000112667 17 38 67.86 27 0 0.00 C6orf118 168090 genome.wustl.edu 37 6 165695236 165695236 + RNA SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 165695236 165695236 T C SNP C6orf118 ENST00000491176 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C6orf118 HGNC ENSG00000112539 11 28 71.79 41 0 0.00 C6orf118 168090 genome.wustl.edu 37 6 165703536 165703536 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 165703536 165703536 T G SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.1141 p.I381L 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 7 6 46.15 11 0 0.00 C6orf118 168090 genome.wustl.edu 37 6 165715629 165715629 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 165715629 165715629 G C SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.182 p.S61C 0.142 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 98 34 25.76 108 0 0.00 C6orf118 168090 genome.wustl.edu 37 6 165715766 165715766 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 165715766 165715766 G C SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.45 p.H15Q 0.396 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 30 4 11.76 13 0 0.00 C6orf120 387263 genome.wustl.edu 37 6 170102991 170102991 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 170102991 170102991 G A SNP C6orf120 ENST00000439249 human ensembl 70_37 +1 known missense c.493 p.E165K 0.420 NULL NULL - no_errors C6orf120 HGNC ENSG00000185127 24 5 17.24 52 0 0.00 C6orf132 647024 genome.wustl.edu 37 6 42074647 42074647 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 42074647 42074647 G A SNP C6orf132 ENST00000341865 human ensembl 70_37 -1 putative missense c.1003 p.P335S 0.047 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 19 21 52.50 20 0 0.00 C6orf136 221545 genome.wustl.edu 37 6 30615247 30615247 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 30615247 30615247 C A SNP C6orf136 ENST00000293604 human ensembl 70_37 +1 known missense c.239 p.A80E 0.000 NULL pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 25 6 19.35 17 0 0.00 C6orf136 221545 genome.wustl.edu 37 6 30618839 30618839 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30618839 30618839 G C SNP C6orf136 ENST00000293604 human ensembl 70_37 +1 known missense c.1086 p.E362D 1.000 pfam_DUF2358 pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 49 14 22.22 61 0 0.00 C6orf141 135398 genome.wustl.edu 37 6 49518718 49518718 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 49518718 49518718 C T SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known silent c.213 p.L71 0.000 NULL NULL - no_errors C6orf141 HGNC ENSG00000197261 16 13 44.83 35 0 0.00 C6orf141 135398 genome.wustl.edu 37 6 49518869 49518869 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 49518869 49518869 G C SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known missense c.364 p.E122Q 0.001 NULL NULL - no_errors C6orf141 HGNC ENSG00000197261 36 7 16.28 59 0 0.00 C6orf141 135398 genome.wustl.edu 37 6 49519061 49519061 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 49519061 49519061 G T SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.989 NULL NULL - no_errors C6orf141 HGNC ENSG00000197261 7 29 80.56 41 0 0.00 C6orf164 63914 genome.wustl.edu 37 6 88109152 88109152 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 88109152 88109152 G C SNP C6orf164 ENST00000369572 human ensembl 70_37 +1 known missense c.164 p.G55A 0.002 NULL NULL - no_errors C6orf164 HGNC ENSG00000203871 36 8 18.18 38 0 0.00 C6orf165 154313 genome.wustl.edu 37 6 88138520 88138520 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 88138520 88138520 G A SNP C6orf165 ENST00000369562 human ensembl 70_37 +1 known silent c.1137 p.V379 0.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6orf165 HGNC ENSG00000213204 32 8 20.00 30 0 0.00 TBC1D32 221322 genome.wustl.edu 37 6 121631950 121631950 + Missense_Mutation SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 121631950 121631950 T C SNP C6orf170 ENST00000275159 human ensembl 70_37 -1 putative missense c.539 p.Q180R 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 51 18 26.09 55 0 0.00 C6orf195 154386 genome.wustl.edu 37 6 2623874 2623874 + Silent SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 2623874 2623874 G C SNP C6orf195 ENST00000296847 human ensembl 70_37 -1 known silent c.183 p.P61 0.001 NULL NULL - no_errors C6orf195 HGNC ENSG00000164385 71 58 44.96 180 0 0.00 C6orf201 404220 genome.wustl.edu 37 6 4087923 4087923 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 4087923 4087923 G A SNP C6orf201 ENST00000380175 human ensembl 70_37 +1 known silent c.48 p.T16 0.001 NULL NULL - no_errors C6orf201 HGNC ENSG00000185689 9 4 30.77 33 0 0.00 C6orf211 79624 genome.wustl.edu 37 6 151789521 151789521 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 151789521 151789521 G A SNP C6orf211 ENST00000367294 human ensembl 70_37 +1 known missense c.602 p.G201E 0.999 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 74 29 28.16 111 0 0.00 C6orf211 79624 genome.wustl.edu 37 6 151789691 151789691 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 151789691 151789691 G C SNP C6orf211 ENST00000367294 human ensembl 70_37 +1 known missense c.772 p.E258Q 1.000 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 167 45 21.23 204 0 0.00 C6orf222 389384 genome.wustl.edu 37 6 36298020 36298020 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 36298020 36298020 G T SNP C6orf222 ENST00000437635 human ensembl 70_37 -1 known missense c.448 p.H150N 0.044 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 23 4 14.81 32 0 0.00 C6orf223 221416 genome.wustl.edu 37 6 43970470 43970470 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43970470 43970470 G A SNP C6orf223 ENST00000336600 human ensembl 70_37 +1 known silent c.336 p.R112 0.000 NULL NULL - no_errors C6orf223 HGNC ENSG00000181577 15 7 31.82 25 0 0.00 C6orf223 221416 genome.wustl.edu 37 6 43970504 43970504 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43970504 43970504 G C SNP C6orf223 ENST00000336600 human ensembl 70_37 +1 known missense c.370 p.A124P 0.161 NULL NULL - no_errors C6orf223 HGNC ENSG00000181577 9 10 52.63 15 0 0.00 C6orf57 135154 genome.wustl.edu 37 6 71298317 71298317 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 71298317 71298317 G T SNP C6orf57 ENST00000370474 human ensembl 70_37 +1 known splice_site c.218-1 e3-1 1.000 - - - no_errors C6orf57 HGNC ENSG00000154079 27 20 42.55 64 0 0.00 C6orf62 81688 genome.wustl.edu 37 6 24716531 24716531 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 24716531 24716531 C T SNP C6orf62 ENST00000378119 human ensembl 70_37 -1 known missense c.151 p.E51K 1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 23 6 20.69 18 0 0.00 C6orf70 55780 genome.wustl.edu 37 6 170162585 170162585 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 170162585 170162585 T C SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known silent c.918 p.F306 0.741 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 57 8 12.31 90 0 0.00 C6orf70 55780 genome.wustl.edu 37 6 170169741 170169741 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170169741 170169741 C G SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1165 p.Q389E 0.228 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 42 7 14.29 29 0 0.00 C6orf70 55780 genome.wustl.edu 37 6 170176052 170176052 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 170176052 170176052 G A SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1411 p.E471K 0.583 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 16 10 38.46 26 0 0.00 C6orf70 55780 genome.wustl.edu 37 6 170179281 170179281 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 170179281 170179281 C G SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1743 p.I581M 0.000 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 16 14 46.67 64 0 0.00 C6orf89 221477 genome.wustl.edu 37 6 36853743 36853743 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 36853743 36853743 C T SNP C6orf89 ENST00000480824 human ensembl 70_37 +1 known rna NULL NULL 0.765 - - - no_errors C6orf89 HGNC ENSG00000198663 24 27 52.94 26 0 0.00 C6orf89 221477 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 70_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 71 11 13.41 85 0 0.00 C6orf89 221477 genome.wustl.edu 37 6 36870110 36870110 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 36870110 36870110 C T SNP C6orf89 ENST00000355190 human ensembl 70_37 +1 known silent c.324 p.I108 0.992 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 50 7 12.28 38 0 0.00 C7 730 genome.wustl.edu 37 5 40945412 40945412 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 40945412 40945412 C A SNP C7 ENST00000313164 human ensembl 70_37 +1 known missense c.680 p.S227Y 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 20 4 16.67 47 0 0.00 C7 730 genome.wustl.edu 37 5 40947764 40947764 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 40947764 40947764 C G SNP C7 ENST00000313164 human ensembl 70_37 +1 known missense c.799 p.P267A 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 38 29 43.28 45 0 0.00 C7 730 genome.wustl.edu 37 5 40947853 40947853 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 40947853 40947853 C T SNP C7 ENST00000313164 human ensembl 70_37 +1 known silent c.888 p.I296 0.713 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 34 25 42.37 41 0 0.00 C7 730 genome.wustl.edu 37 5 40964939 40964939 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 5 40964939 40964939 G A SNP C7 ENST00000313164 human ensembl 70_37 +1 known missense c.1846 p.D616N 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 37 91 71.09 78 0 0.00 C7 730 genome.wustl.edu 37 5 40981528 40981528 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 40981528 40981528 G A SNP C7 ENST00000313164 human ensembl 70_37 +1 known silent c.2385 p.S795 0.000 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 32 16 33.33 33 0 0.00 C7orf10 79783 genome.wustl.edu 37 7 40220584 40220584 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 40220584 40220584 C G SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known missense c.160 p.L54V 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 180 26 12.62 180 0 0.00 TMEM243 79161 genome.wustl.edu 37 7 86825918 86825918 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 86825918 86825918 G A SNP C7orf23 ENST00000481425 human ensembl 70_37 -1 known rna NULL NULL 0.445 - - - no_errors C7orf23 HGNC ENSG00000135185 9 7 43.75 47 0 0.00 C7orf26 79034 genome.wustl.edu 37 7 6639837 6639837 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 6639837 6639837 G A SNP C7orf26 ENST00000344417 human ensembl 70_37 +1 known missense c.958 p.D320N 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 25 15 37.50 27 0 0.00 C7orf31 136895 genome.wustl.edu 37 7 25176304 25176304 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 25176304 25176304 G A SNP C7orf31 ENST00000283905 human ensembl 70_37 -1 known missense c.1060 p.R354C 0.000 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 51 10 16.39 53 0 0.00 SSMEM1 136263 genome.wustl.edu 37 7 129856149 129856149 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 129856149 129856149 C T SNP C7orf45 ENST00000297819 human ensembl 70_37 +1 known nonsense c.574 p.Q192* 0.117 NULL NULL - no_errors C7orf45 HGNC ENSG00000165120 12 24 66.67 29 0 0.00 LSMEM1 286006 genome.wustl.edu 37 7 112127090 112127090 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 112127090 112127090 C T SNP C7orf53 ENST00000312849 human ensembl 70_37 +1 known silent c.240 p.F80 0.680 NULL NULL - no_errors C7orf53 HGNC ENSG00000181016 39 26 40.00 111 0 0.00 C7orf57 136288 genome.wustl.edu 37 7 48081068 48081068 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 48081068 48081068 G C SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.193 p.E65Q 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 14 11 44.00 13 0 0.00 C7orf57 136288 genome.wustl.edu 37 7 48081074 48081074 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48081074 48081074 G T SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.199 p.D67Y 0.993 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 14 7 33.33 35 0 0.00 C7orf57 136288 genome.wustl.edu 37 7 48092508 48092508 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 7 48092508 48092508 G A SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.817 p.E273K 0.010 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 15 3 16.67 23 0 0.00 C7orf62 219557 genome.wustl.edu 37 7 88423783 88423783 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 88423783 88423783 G A SNP C7orf62 ENST00000297203 human ensembl 70_37 -1 known silent c.474 p.L158 0.018 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 22 8 26.67 35 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89906410 89906410 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 89906410 89906410 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known silent c.1008 p.L336 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 25 11 30.56 54 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89909023 89909023 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89909023 89909023 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known silent c.1188 p.L396 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 29 7 19.44 77 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89917563 89917563 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 89917563 89917563 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.1672 p.E558K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 50 27 35.06 115 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89933282 89933282 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89933282 89933282 G T SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known splice_site c.2051-1 e18-1 1.000 - - - no_errors C7orf63 HGNC ENSG00000105792 17 12 41.38 42 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89934126 89934126 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89934126 89934126 G T SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.2257 p.D753Y 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 24 12 33.33 71 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89936214 89936214 + Splice_Site SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 89936214 89936214 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known splice_site c.2266-1 e20-1 1.000 - - - no_errors C7orf63 HGNC ENSG00000105792 62 8 11.43 82 0 0.00 C7orf63 79846 genome.wustl.edu 37 7 89937143 89937143 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 89937143 89937143 G C SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.2525 p.R842T 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 0 6 100.00 27 0 0.00 C7orf65 401335 genome.wustl.edu 37 7 47698599 47698599 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 47698599 47698599 C G SNP C7orf65 ENST00000408988 human ensembl 70_37 +1 putative missense c.229 p.L77V 0.012 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 20 15 42.86 35 0 0.00 C7orf65 401335 genome.wustl.edu 37 7 47698634 47698634 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 47698634 47698634 G A SNP C7orf65 ENST00000408988 human ensembl 70_37 +1 putative silent c.264 p.Q88 0.002 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 86 14 14.00 32 0 0.00 C7orf66 154907 genome.wustl.edu 37 7 108524529 108524529 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 108524529 108524529 G A SNP C7orf66 ENST00000379007 human ensembl 70_37 -1 putative missense c.61 p.H21Y 0.221 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 15 12 44.44 30 0 0.00 C7orf72 100130988 genome.wustl.edu 37 7 50135973 50135973 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 50135973 50135973 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known missense c.292 p.R98W 0.708 NULL NULL - no_errors C7orf72 HGNC ENSG00000164500 8 11 57.89 44 0 0.00 C7orf72 100130988 genome.wustl.edu 37 7 50198672 50198672 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 50198672 50198672 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known silent c.1224 p.L408 0.330 NULL NULL - no_errors C7orf72 HGNC ENSG00000164500 65 10 13.33 56 0 0.00 C7orf72 100130988 genome.wustl.edu 37 7 50198675 50198675 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 50198675 50198675 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known silent c.1227 p.F409 0.988 NULL NULL - no_errors C7orf72 HGNC ENSG00000164500 62 10 13.89 54 0 0.00 C8B 732 genome.wustl.edu 37 1 57399128 57399128 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 57399128 57399128 C T SNP C8B ENST00000371237 human ensembl 70_37 -1 known missense c.1432 p.D478N 0.903 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 10 10 50.00 67 0 0.00 C8B 732 genome.wustl.edu 37 1 57406596 57406596 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 57406596 57406596 C G SNP C8B ENST00000371237 human ensembl 70_37 -1 known missense c.1324 p.E442Q 0.058 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 60 29 32.58 96 0 0.00 C8G 733 genome.wustl.edu 37 9 139840397 139840397 + Nonsense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 139840397 139840397 C T SNP C8G ENST00000224181 human ensembl 70_37 +1 known nonsense c.292 p.Q98* 0.330 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 17 13 43.33 23 0 0.00 C8G 733 genome.wustl.edu 37 9 139840540 139840540 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 139840540 139840540 G T SNP C8G ENST00000224181 human ensembl 70_37 +1 known missense c.350 p.R117L 0.292 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 73 29 28.16 56 0 0.00 C8G 733 genome.wustl.edu 37 9 139840549 139840549 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 139840549 139840549 G A SNP C8G ENST00000224181 human ensembl 70_37 +1 known missense c.359 p.R120Q 0.015 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 38 8 17.39 40 0 0.00 C8orf34 116328 genome.wustl.edu 37 8 69243481 69243481 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 69243481 69243481 C G SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known silent c.234 p.L78 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 37 10 21.28 53 0 0.00 C8orf34 116328 genome.wustl.edu 37 8 69537880 69537880 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 69537880 69537880 C T SNP C8orf34 ENST00000325233 human ensembl 70_37 +1 known silent c.69 p.S23 0.381 NULL NULL - no_errors C8orf34 HGNC ENSG00000165084 49 12 19.67 53 0 0.00 C8orf34 116328 genome.wustl.edu 37 8 69633640 69633640 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 69633640 69633640 G A SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known missense c.1372 p.E458K 0.997 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 23 7 23.33 78 0 0.00 C8orf34 116328 genome.wustl.edu 37 8 69699708 69699708 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 69699708 69699708 C T SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known missense c.1486 p.H496Y 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 14 4 22.22 22 0 0.00 TDRP 157695 genome.wustl.edu 37 8 442413 442413 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 442413 442413 C T SNP C8orf42 ENST00000324079 human ensembl 70_37 -1 known missense c.544 p.E182K 0.998 NULL NULL - no_errors C8orf42 HGNC ENSG00000180190 11 5 31.25 30 0 0.00 C8orf44 56260 genome.wustl.edu 37 8 67591814 67591814 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 67591814 67591814 G C SNP C8orf44 ENST00000518860 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C8orf44 HGNC ENSG00000213865 17 16 48.48 33 0 0.00 C8orf44 56260 genome.wustl.edu 37 8 67592258 67592258 + RNA SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 67592258 67592258 G C SNP C8orf44 ENST00000518860 human ensembl 70_37 +1 known rna NULL NULL 0.340 - - - no_errors C8orf44 HGNC ENSG00000213865 1 4 80.00 17 0 0.00 C8orf46 254778 genome.wustl.edu 37 8 67408707 67408707 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67408707 67408707 C G SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.106 p.Q36E 1.000 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 58 16 21.62 84 0 0.00 C8orf46 254778 genome.wustl.edu 37 8 67428140 67428140 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 67428140 67428140 C G SNP C8orf46 ENST00000522977 human ensembl 70_37 +1 novel missense c.391 p.Q131E 0.571 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 13 14 51.85 20 0 0.00 C8orf46 254778 genome.wustl.edu 37 8 67428146 67428146 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 67428146 67428146 G C SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.459 p.K153N 0.990 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 19 13 40.62 33 0 0.00 C8orf46 254778 genome.wustl.edu 37 8 67428153 67428153 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 67428153 67428153 G A SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.466 p.E156K 0.988 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 17 4 19.05 34 0 0.00 C8orf47 203111 genome.wustl.edu 37 8 99102059 99102059 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 99102059 99102059 G C SNP C8orf47 ENST00000318528 human ensembl 70_37 +1 known missense c.814 p.D272H 0.061 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 26 10 27.78 29 0 0.00 C8orf48 157773 genome.wustl.edu 37 8 13425419 13425419 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 13425419 13425419 C G SNP C8orf48 ENST00000297324 human ensembl 70_37 +1 known missense c.919 p.L307V 0.000 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 23 19 45.24 50 0 0.00 C8orf49 606553 genome.wustl.edu 37 8 11619398 11619398 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 11619398 11619398 T C SNP C8orf49 ENST00000525043 human ensembl 70_37 +1 known missense c.476 p.V159A 0.000 NULL NULL - no_errors C8orf49 HGNC ENSG00000255394 71 9 11.25 82 0 0.00 C8orf58 541565 genome.wustl.edu 37 8 22458791 22458791 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 22458791 22458791 G A SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.437 p.R146H 0.000 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 34 17 33.33 52 0 0.00 C8orf58 541565 genome.wustl.edu 37 8 22460053 22460053 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 22460053 22460053 G A SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.883 p.D295N 0.034 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 55 23 29.49 69 0 0.00 C8orf58 541565 genome.wustl.edu 37 8 22460773 22460773 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 22460773 22460773 C T SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.1052 p.S351L 0.036 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 45 29 39.19 93 0 0.00 MROH6 642475 genome.wustl.edu 37 8 144650719 144650719 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 144650719 144650719 G A SNP C8orf73 ENST00000533582 human ensembl 70_37 -1 putative rna NULL NULL 0.975 - - - no_errors C8orf73 HGNC ENSG00000204839 24 18 42.86 32 0 0.00 MROH6 642475 genome.wustl.edu 37 8 144654698 144654698 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 144654698 144654698 C T SNP C8orf73 ENST00000398882 human ensembl 70_37 -1 known missense c.187 p.A63T 0.000 NULL superfamily_ARM-type_fold - no_errors C8orf73 HGNC ENSG00000204839 61 22 26.51 178 0 0.00 C9 735 genome.wustl.edu 37 5 39308447 39308447 + Frame_Shift_Del DEL T T - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 39308447 39308447 T - DEL C9 ENST00000263408 human ensembl 70_37 -1 known frame_shift_del c.1125 p.D376fs 0.002 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 70 11 13.58 40 0 0.00 C9orf106 414318 genome.wustl.edu 37 9 132084251 132084251 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 132084251 132084251 C T SNP C9orf106 ENST00000316786 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf106 HGNC ENSG00000179082 38 10 20.83 40 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131586097 131586097 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131586097 131586097 C T SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.991 p.E331K 0.994 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 121 43 26.22 87 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131586155 131586155 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 131586155 131586155 G A SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known silent c.933 p.F311 0.961 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 51 30 37.04 60 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131588514 131588514 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 131588514 131588514 C G SNP C9orf114 ENST00000466556 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf114 HGNC ENSG00000198917 28 12 30.00 46 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131591027 131591027 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 131591027 131591027 C T SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known silent c.195 p.E65 0.000 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 28 8 22.22 19 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131591057 131591057 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 131591057 131591057 C G SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.165 p.K55N 0.904 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 14 8 36.36 20 0 0.00 C9orf114 51490 genome.wustl.edu 37 9 131592044 131592044 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 131592044 131592044 T A SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.16 p.R6W 0.000 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 16 6 27.27 26 0 0.00 C9orf116 138162 genome.wustl.edu 37 9 138387442 138387442 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 138387442 138387442 G C SNP C9orf116 ENST00000429260 human ensembl 70_37 -1 known missense c.242 p.S81W 0.001 NULL NULL - no_errors C9orf116 HGNC ENSG00000160345 41 9 18.00 51 0 0.00 C9orf117 286207 genome.wustl.edu 37 9 130475771 130475771 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130475771 130475771 C G SNP C9orf117 ENST00000496009 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors C9orf117 HGNC ENSG00000160401 22 12 35.29 22 0 0.00 C9orf117 286207 genome.wustl.edu 37 9 130475902 130475902 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130475902 130475902 C T SNP C9orf117 ENST00000496009 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors C9orf117 HGNC ENSG00000160401 23 18 43.90 35 0 0.00 C9orf123 90871 genome.wustl.edu 37 9 7799696 7799696 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 7799696 7799696 G A SNP C9orf123 ENST00000358227 human ensembl 70_37 -1 known silent c.39 p.I13 0.001 NULL NULL - no_errors C9orf123 HGNC ENSG00000137038 95 31 24.60 50 0 0.00 C9orf131 138724 genome.wustl.edu 37 9 35042891 35042891 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 35042891 35042891 G A SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.265 p.D89N 0.232 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 27 26 49.06 56 0 0.00 C9orf131 138724 genome.wustl.edu 37 9 35043198 35043199 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35043198 35043199 - A INS C9orf131 ENST00000312292 human ensembl 70_37 +1 known frame_shift_ins c.572_573 p.S193fs 0.066:0.093 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 31 11 26.19 51 0 0.00 C9orf131 138724 genome.wustl.edu 37 9 35043372 35043372 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 35043372 35043372 C T SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.746 p.S249L 0.001 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 173 47 21.27 271 0 0.00 C9orf131 138724 genome.wustl.edu 37 9 35043829 35043829 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 35043829 35043829 G C SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.1203 p.E401D 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 17 7 29.17 31 0 0.00 C9orf139 401563 genome.wustl.edu 37 9 139929272 139929272 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139929272 139929272 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.339 p.L113F 0.000 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 27 8 22.86 32 0 0.00 C9orf139 401563 genome.wustl.edu 37 9 139929366 139929366 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139929366 139929366 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.433 p.E145Q 0.000 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 127 38 23.03 200 0 0.00 C9orf139 401563 genome.wustl.edu 37 9 139929414 139929414 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139929414 139929414 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.003 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 21 9 30.00 39 0 0.00 C9orf141 203235 genome.wustl.edu 37 9 139866088 139866088 + Nonsense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 139866088 139866088 G T SNP C9orf141 ENST00000371629 human ensembl 70_37 +1 known nonsense c.499 p.E167* 0.006 NULL superfamily_Calycin-like - no_errors C9orf141 HGNC ENSG00000198454 65 11 14.47 72 0 0.00 C9orf147 100133204 genome.wustl.edu 37 9 115248878 115248878 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 115248878 115248878 C T SNP C9orf147 ENST00000463223 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors C9orf147 HGNC ENSG00000230185 18 12 40.00 52 0 0.00 C9orf152 401546 genome.wustl.edu 37 9 112969745 112969745 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 112969745 112969745 T - DEL C9orf152 ENST00000400613 human ensembl 70_37 -1 known frame_shift_del c.115 p.I39fs 0.868 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 55 7 11.29 66 0 0.00 C9orf153 389766 genome.wustl.edu 37 9 88836483 88836483 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 9 88836483 88836483 C A SNP C9orf153 ENST00000469914 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf153 HGNC ENSG00000187753 39 29 42.65 41 0 0.00 C9orf153 389766 genome.wustl.edu 37 9 88842882 88842882 + Missense_Mutation SNP T T G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 88842882 88842882 T G SNP C9orf153 ENST00000376001 human ensembl 70_37 -1 known missense c.130 p.K44Q 0.001 NULL NULL - no_errors C9orf153 HGNC ENSG00000187753 37 8 17.78 58 0 0.00 C9orf16 79095 genome.wustl.edu 37 9 130922669 130922669 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130922669 130922669 C T SNP C9orf16 ENST00000489240 human ensembl 70_37 +1 known rna NULL NULL 0.171 - - - no_errors C9orf16 HGNC ENSG00000171159 20 9 31.03 16 0 0.00 C9orf16 79095 genome.wustl.edu 37 9 130925201 130925201 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130925201 130925201 C G SNP C9orf16 ENST00000492588 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors C9orf16 HGNC ENSG00000171159 22 21 47.73 32 0 0.00 C9orf163 158055 genome.wustl.edu 37 9 139379423 139379423 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 139379423 139379423 G A SNP C9orf163 ENST00000354376 human ensembl 70_37 +1 known missense c.523 p.A175T 0.000 NULL NULL - no_errors C9orf163 HGNC ENSG00000196366 58 31 34.83 46 0 0.00 C9orf170 401535 genome.wustl.edu 37 9 89771629 89771629 + Missense_Mutation SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 89771629 89771629 A G SNP C9orf170 ENST00000375941 human ensembl 70_37 +1 known missense c.310 p.S104G 0.000 NULL NULL - no_errors C9orf170 HGNC ENSG00000204446 28 4 12.50 25 0 0.00 C9orf171 389799 genome.wustl.edu 37 9 135285786 135285786 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 135285786 135285786 C G SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.128 p.S43C 0.216 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 11 2 15.38 8 0 0.00 C9orf171 389799 genome.wustl.edu 37 9 135357739 135357739 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135357739 135357739 G C SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.238 p.D80H 0.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 38 8 17.39 57 0 0.00 C9orf171 389799 genome.wustl.edu 37 9 135374101 135374101 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 135374101 135374101 G A SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.323 p.R108Q 1.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 56 33 37.08 69 0 0.00 C9orf171 389799 genome.wustl.edu 37 9 135374143 135374143 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 135374143 135374143 G C SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.365 p.G122A 1.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 37 20 35.09 53 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100056251 100056251 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100056251 100056251 T A SNP C9orf174 ENST00000357054 human ensembl 70_37 +1 known missense c.109 p.Y37N 1.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 100 17 14.53 98 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100070052 100070052 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 100070052 100070052 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.15 p.E5 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 26 11 29.73 42 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100071801 100071801 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 100071801 100071801 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.307 p.E103K 0.090 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 47 9 16.07 46 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100075523 100075523 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 100075523 100075523 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.487 p.E163K 0.691 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 23 14 37.84 32 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100076947 100076947 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 100076947 100076947 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.768 p.R256 0.468 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 16 4 20.00 12 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100080841 100080841 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 100080841 100080841 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.1188 p.R396 0.163 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 26 3 10.34 20 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100086218 100086218 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 100086218 100086218 G C SNP C9orf174 ENST00000395220 human ensembl 70_37 +1 known silent c.1833 p.L611 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 15 14 48.28 23 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100127814 100127814 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 100127814 100127814 G A SNP C9orf174 ENST00000483504 human ensembl 70_37 +1 known rna NULL NULL 0.406 - - - no_errors C9orf174 HGNC ENSG00000197816 33 9 21.43 66 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100133042 100133042 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 100133042 100133042 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.4602 p.M1534I 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 9 3 25.00 8 0 0.00 CCDC180 100499483 genome.wustl.edu 37 9 100137857 100137857 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 100137857 100137857 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.4960 p.D1654N 1.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 23 10 29.41 31 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97522144 97522144 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 97522144 97522144 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.79 p.V27L 1.000 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 41 22 34.92 54 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97563233 97563233 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 97563233 97563233 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1313 p.R438P 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 10 8 44.44 32 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97686290 97686290 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 97686290 97686290 C T SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known nonsense c.1387 p.Q463* 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 73 30 29.13 56 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97690776 97690776 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 97690776 97690776 G A SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1624 p.E542K 0.999 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 38 34 47.22 73 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97694040 97694040 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 97694040 97694040 C G SNP C9orf3 ENST00000473778 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf3 HGNC ENSG00000148120 42 19 31.15 51 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97741653 97741653 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 97741653 97741653 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1921 p.E641Q 0.010 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 16 6 27.27 40 0 0.00 C9orf3 84909 genome.wustl.edu 37 9 97767884 97767884 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 97767884 97767884 G A SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.2101 p.E701K 0.051 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 13 2 13.33 13 0 0.00 C9orf37 85026 genome.wustl.edu 37 9 140510342 140510342 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140510342 140510342 C G SNP C9orf37 ENST00000371417 human ensembl 70_37 -1 known missense c.310 p.E104Q 0.036 NULL NULL - no_errors C9orf37 HGNC ENSG00000203993 25 16 38.10 53 0 0.00 C9orf43 257169 genome.wustl.edu 37 9 116175787 116175787 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 116175787 116175787 A C SNP C9orf43 ENST00000288462 human ensembl 70_37 +1 known missense c.14 p.D5A 0.954 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 26 20 43.48 87 0 0.00 C9orf47 286223 genome.wustl.edu 37 9 91606129 91606129 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 91606129 91606129 G A SNP C9orf47 ENST00000334490 human ensembl 70_37 +1 known silent c.219 p.P73 0.000 NULL NULL - no_errors C9orf47 HGNC ENSG00000186354 11 4 26.67 16 0 0.00 C9orf50 375759 genome.wustl.edu 37 9 132375735 132375735 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 132375735 132375735 G A SNP C9orf50 ENST00000372478 human ensembl 70_37 -1 known missense c.1022 p.S341L 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 19 12 38.71 53 0 0.00 C9orf50 375759 genome.wustl.edu 37 9 132375857 132375857 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132375857 132375857 C T SNP C9orf50 ENST00000372478 human ensembl 70_37 -1 known silent c.900 p.V300 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 73 28 27.72 52 0 0.00 C9orf66 157983 genome.wustl.edu 37 9 214587 214587 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 214587 214587 C G SNP C9orf66 ENST00000382387 human ensembl 70_37 -1 known silent c.810 p.A270 0.000 NULL NULL - no_errors C9orf66 HGNC ENSG00000183784 58 20 25.64 81 0 0.00 C9orf66 157983 genome.wustl.edu 37 9 214656 214656 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 214656 214656 C T SNP C9orf66 ENST00000382387 human ensembl 70_37 -1 known silent c.741 p.P247 0.002 NULL NULL - no_errors C9orf66 HGNC ENSG00000183784 15 11 42.31 20 0 0.00 C9orf69 90120 genome.wustl.edu 37 9 139008588 139008588 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 139008588 139008588 G A SNP C9orf69 ENST00000561457 human ensembl 70_37 -1 known missense c.233 p.S78L 1.000 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 19 21 52.50 31 0 0.00 C9orf69 90120 genome.wustl.edu 37 9 139008612 139008612 + Nonsense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 139008612 139008612 G C SNP C9orf69 ENST00000561457 human ensembl 70_37 -1 known nonsense c.209 p.S70* 0.997 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 16 15 48.39 31 0 0.00 C9orf72 203228 genome.wustl.edu 37 9 27548004 27548004 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 27548004 27548004 A C SNP C9orf72 ENST00000488117 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors C9orf72 HGNC ENSG00000147894 12 6 33.33 21 0 0.00 C9orf78 51759 genome.wustl.edu 37 9 132590389 132590389 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 132590389 132590389 G A SNP C9orf78 ENST00000461349 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf78 HGNC ENSG00000136819 33 14 29.79 31 0 0.00 C9orf78 51759 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 8 4 33.33 24 0 0.00 C9orf78 51759 genome.wustl.edu 37 9 132597032 132597032 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 132597032 132597032 C T SNP C9orf78 ENST00000372447 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 NULL pfam_Hep_59 - no_errors C9orf78 HGNC ENSG00000136819 17 4 19.05 24 0 0.00 C9orf84 158401 genome.wustl.edu 37 9 114454375 114454375 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 114454375 114454375 G C SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.3690 p.V1230 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 35 5 12.50 35 0 0.00 C9orf84 158401 genome.wustl.edu 37 9 114490154 114490154 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114490154 114490154 C T SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.1401 p.K467 0.639 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 14 6 30.00 27 0 0.00 C9orf84 158401 genome.wustl.edu 37 9 114508574 114508574 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 114508574 114508574 G C SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known missense c.827 p.S276C 0.006 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 19 22 53.66 48 0 0.00 C9orf84 158401 genome.wustl.edu 37 9 114521010 114521010 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 114521010 114521010 G A SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.369 p.F123 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 34 29 46.03 51 0 0.00 C9orf89 84270 genome.wustl.edu 37 9 95870053 95870053 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 95870053 95870053 G C SNP C9orf89 ENST00000466409 human ensembl 70_37 +1 known silent c.105 p.L35 0.999 NULL superfamily_DEATH-like - no_errors C9orf89 HGNC ENSG00000165233 56 10 15.15 108 1 0.91 C9orf91 203197 genome.wustl.edu 37 9 117379410 117379410 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 117379410 117379410 G C SNP C9orf91 ENST00000471206 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors C9orf91 HGNC ENSG00000157693 32 12 27.27 33 0 0.00 C9orf91 203197 genome.wustl.edu 37 9 117396098 117396098 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 117396098 117396098 G C SNP C9orf91 ENST00000374049 human ensembl 70_37 +1 known silent c.528 p.L176 0.910 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 33 30 47.62 73 0 0.00 C9orf96 169436 genome.wustl.edu 37 9 136243391 136243391 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 136243391 136243391 G C SNP C9orf96 ENST00000371957 human ensembl 70_37 +1 known missense c.47 p.R16P 0.001 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC ENSG00000198870 66 27 29.03 85 0 0.00 C9orf96 169436 genome.wustl.edu 37 9 136265575 136265575 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 136265575 136265575 G A SNP C9orf96 ENST00000371957 human ensembl 70_37 +1 known silent c.1116 p.V372 0.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC ENSG00000198870 74 24 24.49 128 0 0.00 CA10 56934 genome.wustl.edu 37 17 49710909 49710909 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 49710909 49710909 G A SNP CA10 ENST00000340813 human ensembl 70_37 -1 known missense c.910 p.R304C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 61 24 28.24 77 0 0.00 CA10 56934 genome.wustl.edu 37 17 49710951 49710951 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 49710951 49710951 C T SNP CA10 ENST00000340813 human ensembl 70_37 -1 known missense c.868 p.D290N 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 49 21 30.00 81 0 0.00 CA10 56934 genome.wustl.edu 37 17 50235158 50235158 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 50235158 50235158 C T SNP CA10 ENST00000573294 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC ENSG00000154975 29 6 17.14 36 0 0.00 CA11 770 genome.wustl.edu 37 19 49142303 49142303 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 49142303 49142303 G A SNP CA11 ENST00000084798 human ensembl 70_37 -1 known missense c.803 p.S268F 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 32 24 42.86 39 0 0.00 CA12 771 genome.wustl.edu 37 15 63619425 63619425 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 63619425 63619425 G A SNP CA12 ENST00000178638 human ensembl 70_37 -1 known silent c.915 p.I305 1.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA12 HGNC ENSG00000074410 104 17 13.93 101 0 0.00 CA13 377677 genome.wustl.edu 37 8 86158063 86158063 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 86158063 86158063 G A SNP CA13 ENST00000321764 human ensembl 70_37 +1 known silent c.6 p.S2 0.476 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA13 HGNC ENSG00000185015 22 29 56.86 33 0 0.00 CA14 23632 genome.wustl.edu 37 1 150234978 150234978 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150234978 150234978 G C SNP CA14 ENST00000369111 human ensembl 70_37 +1 known missense c.454 p.E152Q 0.001 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 207 52 20.00 234 0 0.00 CA14 23632 genome.wustl.edu 37 1 150237017 150237017 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 150237017 150237017 G C SNP CA14 ENST00000369111 human ensembl 70_37 +1 known missense c.972 p.K324N 0.980 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 28 12 30.00 40 0 0.00 CA14 23632 genome.wustl.edu 37 1 150237051 150237051 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 150237051 150237051 G A SNP CA14 ENST00000369111 human ensembl 70_37 +1 known missense c.1006 p.E336K 0.272 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 32 27 45.76 31 0 0.00 CA2 760 genome.wustl.edu 37 8 86377680 86377680 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 8 86377680 86377680 G A SNP CA2 ENST00000285379 human ensembl 70_37 +1 known missense c.214 p.D72N 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 29 12 29.27 39 0 0.00 CA4 762 genome.wustl.edu 37 17 58234005 58234005 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 58234005 58234005 A C SNP CA4 ENST00000300900 human ensembl 70_37 +1 known missense c.197 p.K66T 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 15 9 37.50 41 0 0.00 CA5BP1 340591 genome.wustl.edu 37 X 15706849 15706849 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 15706849 15706849 C T SNP CA5BP1 ENST00000380331 human ensembl 70_37 +1 known rna NULL NULL 0.963 - - - no_errors CA5BP1 HGNC ENSG00000186312 19 18 48.65 28 0 0.00 CA6 765 genome.wustl.edu 37 1 9011498 9011498 + Silent SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 9011498 9011498 C A SNP CA6 ENST00000319474 human ensembl 70_37 +1 known silent c.276 p.L92 0.000 pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 46 16 25.81 75 0 0.00 CA6 765 genome.wustl.edu 37 1 9027808 9027808 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 9027808 9027808 C T SNP CA6 ENST00000377443 human ensembl 70_37 +1 known missense c.662 p.T221M 0.991 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 30 13 30.23 51 0 0.00 CA6 765 genome.wustl.edu 37 1 9034438 9034438 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 9034438 9034438 C T SNP CA6 ENST00000377436 human ensembl 70_37 +1 putative nonsense c.877 p.Q293* 0.004 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 42 14 25.00 56 0 0.00 CA6 765 genome.wustl.edu 37 1 9034807 9034807 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 9034807 9034807 G A SNP CA6 ENST00000476083 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CA6 HGNC ENSG00000131686 18 5 21.74 27 0 0.00 CA7 766 genome.wustl.edu 37 16 66881082 66881082 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 66881082 66881082 A G SNP CA7 ENST00000338437 human ensembl 70_37 +1 known missense c.190 p.N64D 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA7 HGNC ENSG00000168748 23 27 54.00 37 0 0.00 CA8 767 genome.wustl.edu 37 8 61192272 61192272 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 61192272 61192272 G A SNP CA8 ENST00000317995 human ensembl 70_37 -1 known nonsense c.268 p.Q90* 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC ENSG00000178538 14 6 30.00 29 0 0.00 CAAP1 79886 genome.wustl.edu 37 9 26842620 26842620 + Nonsense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 26842620 26842620 G C SNP CAAP1 ENST00000520187 human ensembl 70_37 -1 putative nonsense c.329 p.S110* 1.000 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 39 23 37.10 62 0 0.00 CAB39L 81617 genome.wustl.edu 37 13 49933878 49933878 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 49933878 49933878 G A SNP CAB39L ENST00000347776 human ensembl 70_37 -1 known missense c.367 p.P123S 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 30 29 49.15 54 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24451464 24451464 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 24451464 24451464 C T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.935 p.S312F 0.010 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 28 8 22.22 27 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24468334 24468334 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24468334 24468334 G C SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.2506 p.E836Q 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 39 28 41.79 79 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24487584 24487584 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 24487584 24487584 C G SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.3573 p.F1191L 0.999 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 43 8 15.69 41 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24509660 24509660 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24509660 24509660 C T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known silent c.4245 p.L1415 0.740 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 9 8 47.06 16 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24562874 24562874 + Nonsense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 24562874 24562874 G T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known nonsense c.5275 p.E1759* 0.999 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 77 81 51.27 123 0 0.00 CABIN1 23523 genome.wustl.edu 37 22 24563133 24563133 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 24563133 24563133 G A SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.5534 p.R1845H 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 14 5 26.32 20 0 0.00 CABP1 9478 genome.wustl.edu 37 12 121093965 121093965 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121093965 121093965 G A SNP CABP1 ENST00000288616 human ensembl 70_37 +1 known missense c.115 p.E39K 0.997 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC ENSG00000157782 14 7 33.33 19 0 0.00 CABP1 9478 genome.wustl.edu 37 12 121094061 121094061 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 121094061 121094061 G A SNP CABP1 ENST00000288616 human ensembl 70_37 +1 known missense c.211 p.E71K 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC ENSG00000157782 29 11 26.83 39 0 0.00 CABP1 9478 genome.wustl.edu 37 12 121098880 121098880 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 121098880 121098880 A G SNP CABP1 ENST00000316803 human ensembl 70_37 +1 known missense c.946 p.T316A 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC ENSG00000157782 61 22 26.51 110 1 0.89 CABP2 51475 genome.wustl.edu 37 11 67287316 67287316 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67287316 67287316 G A SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known silent c.585 p.D195 0.376 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC ENSG00000167791 48 34 41.46 77 0 0.00 CABP2 51475 genome.wustl.edu 37 11 67288598 67288598 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 67288598 67288598 C G SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known missense c.277 p.D93H 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC ENSG00000167791 32 22 40.74 78 0 0.00 CABP2 51475 genome.wustl.edu 37 11 67289435 67289435 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67289435 67289435 C T SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC ENSG00000167791 38 15 28.30 56 0 0.00 CABP4 57010 genome.wustl.edu 37 11 67225845 67225845 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 67225845 67225845 G C SNP CABP4 ENST00000325656 human ensembl 70_37 +1 known missense c.655 p.D219H 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP4 HGNC ENSG00000175544 54 9 14.29 117 0 0.00 CABP4 57010 genome.wustl.edu 37 11 67225898 67225898 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67225898 67225898 G A SNP CABP4 ENST00000325656 human ensembl 70_37 +1 known silent c.708 p.P236 0.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP4 HGNC ENSG00000175544 20 9 31.03 34 0 0.00 CABS1 85438 genome.wustl.edu 37 4 71201722 71201722 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 71201722 71201722 C T SNP CABS1 ENST00000273936 human ensembl 70_37 +1 known silent c.966 p.D322 0.954 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 43 7 14.00 68 0 0.00 CABYR 26256 genome.wustl.edu 37 18 21723170 21723170 + Nonsense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 21723170 21723170 C G SNP CABYR ENST00000463087 human ensembl 70_37 +1 known nonsense c.92 p.S31* 0.258 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 35 22 38.60 46 0 0.00 CABYR 26256 genome.wustl.edu 37 18 21735985 21735985 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 21735985 21735985 C A SNP CABYR ENST00000463087 human ensembl 70_37 +1 known missense c.520 p.Q174K 1.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 49 20 28.99 68 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65068492 65068492 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65068492 65068492 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known silent c.414 p.F138 0.695 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 22 12 35.29 60 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65099846 65099846 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 65099846 65099846 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known silent c.909 p.S303 0.978 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 22 13 37.14 29 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65099937 65099937 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65099937 65099937 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known nonsense c.1000 p.Q334* 1.000 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 29 17 36.96 31 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65117933 65117933 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 65117933 65117933 G A SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.1480 p.E494K 1.000 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 121 16 11.68 132 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65129402 65129402 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65129402 65129402 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.1976 p.A659V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 8 19 70.37 36 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65139113 65139113 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65139113 65139113 T C SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.2693 p.V898A 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 35 19 35.19 64 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65142651 65142651 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 65142651 65142651 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.3049 p.H1017Y 0.996 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 33 4 10.81 32 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65146977 65146977 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 65146977 65146977 G A SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.3443 p.R1148K 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 6 35 85.37 17 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65157442 65157442 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65157442 65157442 G A SNP CACHD1 ENST00000470527 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CACHD1 HGNC ENSG00000158966 8 9 52.94 17 0 0.00 CACHD1 57685 genome.wustl.edu 37 1 65157586 65157586 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65157586 65157586 G C SNP CACHD1 ENST00000470527 human ensembl 70_37 +1 known rna NULL NULL 0.934 - - - no_errors CACHD1 HGNC ENSG00000158966 48 25 34.25 47 0 0.00 CACNA1A 773 genome.wustl.edu 37 19 13319680 13319680 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 13319680 13319680 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.6670 p.D2224N 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 21 7 24.14 27 0 0.00 CACNA1A 773 genome.wustl.edu 37 19 13409479 13409479 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 13409479 13409479 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.2968 p.E990K 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 9 3 25.00 12 0 0.00 CACNA1A 773 genome.wustl.edu 37 19 13482538 13482538 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 13482538 13482538 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.595 p.V199M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 82 17 17.17 102 0 0.00 CACNA1A 773 genome.wustl.edu 37 19 13616813 13616813 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 13616813 13616813 G A SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.226 p.R76W 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 50 29 36.71 74 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140777216 140777216 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140777216 140777216 C G SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.411 p.F137L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 123 82 40.00 119 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140807659 140807659 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 140807659 140807659 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.558 p.F186 0.907 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 82 53 39.26 130 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140807695 140807695 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 140807695 140807695 G T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.594 p.R198S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 53 9 14.52 59 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140852116 140852116 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 140852116 140852116 G T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.1313 p.R438L 0.580 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 54 12 18.18 64 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140878595 140878595 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 140878595 140878595 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.1665 p.I555 0.304 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 66 33 33.33 124 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140901276 140901276 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 140901276 140901276 G A SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.2035 p.G679S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 43 8 15.38 66 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140917674 140917674 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 140917674 140917674 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.2482 p.R828W 0.855 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 51 36 41.38 22 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140946583 140946583 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 140946583 140946583 G C SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.3753 p.L1251 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 34 12 26.09 40 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140954116 140954116 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 140954116 140954116 G C SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.4598 p.R1533T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 39 11 22.00 52 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140970329 140970329 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 140970329 140970329 G A SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.4919 p.R1640Q 0.959 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 9 15 62.50 27 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140972693 140972693 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 140972693 140972693 T G SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.5080 p.F1694V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 62 41 39.81 164 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 140997167 140997167 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 140997167 140997167 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.5230 p.R1744C 1.000 pfscan_EF_HAND_2 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 18 4 18.18 27 0 0.00 CACNA1B 774 genome.wustl.edu 37 9 141010114 141010114 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 141010114 141010114 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.5763 p.L1921 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 38 8 17.39 71 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2602389 2602389 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 2602389 2602389 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.950 p.A317V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 25 19 43.18 48 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2613650 2613650 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2613650 2613650 C A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.1162 p.L388M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 153 41 21.13 279 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2614095 2614095 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 2614095 2614095 C A SNP CACNA1C ENST00000347598 human ensembl 70_37 +1 known missense c.1201 p.L401I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 32 18 36.00 61 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2690795 2690795 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 2690795 2690795 G A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.1935 p.L645 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 102 17 14.29 113 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2690805 2690805 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 2690805 2690805 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.1945 p.R649C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 89 32 26.45 89 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2690928 2690928 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2690928 2690928 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.2068 p.D690H 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 41 10 19.61 59 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2706419 2706419 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 2706419 2706419 T G SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.2817 p.V939 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 90 35 28.00 131 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2711064 2711064 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 2711064 2711064 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.2898 p.R966 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 22 46 67.65 145 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2716295 2716295 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 2716295 2716295 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.3355 p.E1119Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 20 12 37.50 49 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2719826 2719826 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2719826 2719826 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.3678 p.F1226 0.994 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 55 16 22.54 116 1 0.85 CACNA1C 775 genome.wustl.edu 37 12 2786273 2786273 + Silent SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 12 2786273 2786273 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.4842 p.T1614 0.623 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 8 15 65.22 26 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2788756 2788756 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 2788756 2788756 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.5238 p.E1746D 1.000 prints_VDCC_L_a1csu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 48 28 36.84 79 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2794937 2794937 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 2794937 2794937 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.5822 p.T1941M 0.939 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 51 7 12.07 38 0 0.00 CACNA1C 775 genome.wustl.edu 37 12 2797857 2797857 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 2797857 2797857 G A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.6242 p.R2081K 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 77 33 30.00 55 0 0.00 CACNA1C-AS1 100652846 genome.wustl.edu 37 12 2786778 2786778 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 2786778 2786778 G A SNP CACNA1C-AS1 ENST00000501371 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 54 17 23.94 45 0 0.00 CACNA1C-AS1 100652846 genome.wustl.edu 37 12 2787058 2787058 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 2787058 2787058 C G SNP CACNA1C-AS1 ENST00000501371 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 43 17 28.33 53 0 0.00 CACNA1D 776 genome.wustl.edu 37 3 53707786 53707786 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 53707786 53707786 G C SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.1163 p.S388T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 173 24 12.18 200 0 0.00 CACNA1D 776 genome.wustl.edu 37 3 53808636 53808636 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 53808636 53808636 G A SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.4193 p.R1398K 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 34 27 43.55 144 0 0.00 CACNA1D 776 genome.wustl.edu 37 3 53835295 53835295 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 53835295 53835295 C T SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.5311 p.P1771S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 21 9 30.00 30 0 0.00 CACNA1D 776 genome.wustl.edu 37 3 53844063 53844063 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 53844063 53844063 C T SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.5990 p.S1997L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 20 7 25.93 25 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181453069 181453069 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 181453069 181453069 C T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.189 p.F63 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 81 47 36.72 120 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181453098 181453098 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 181453098 181453098 G C SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.218 p.G73A 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 75 61 44.85 144 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181680090 181680090 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 181680090 181680090 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.1056 p.G352 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 37 5 11.90 31 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181701777 181701777 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 181701777 181701777 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.2555 p.R852H 0.966 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 27 43 61.43 46 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181701977 181701977 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 181701977 181701977 C T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.2755 p.R919W 0.976 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 69 20 22.47 38 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181706769 181706769 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 181706769 181706769 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.3531 p.L1177 0.974 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 35 13 27.08 69 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181708285 181708285 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 181708285 181708285 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.3615 p.M1205I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 103 16 13.45 114 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181727095 181727095 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 181727095 181727095 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.4342 p.D1448N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 42 17 28.81 56 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181745324 181745324 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 181745324 181745324 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.5227 p.E1743K 1.000 pfscan_EF_HAND_2 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 172 28 14.00 220 0 0.00 CACNA1E 777 genome.wustl.edu 37 1 181767481 181767481 + Silent SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 181767481 181767481 C A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.6453 p.T2151 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 16 5 23.81 27 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49063285 49063285 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 49063285 49063285 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.5296 p.P1766S 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 55 13 19.12 48 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49066140 49066140 + Missense_Mutation SNP T T A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 49066140 49066140 T A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.4803 p.E1601D 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 22 61 73.49 111 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49071932 49071932 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 49071932 49071932 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.3341 p.S1114L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 39 10 20.00 51 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49072855 49072855 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49072855 49072855 C T SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.3256 p.E1086K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 19 8 29.63 43 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49072951 49072951 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 49072951 49072951 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.3160 p.R1054W 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 22 5 18.52 44 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49087754 49087754 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 49087754 49087754 G C SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known silent c.291 p.L97 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 68 8 10.53 121 0 0.00 CACNA1F 778 genome.wustl.edu 37 X 49088168 49088168 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 49088168 49088168 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.247 p.R83W 0.739 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 46 6 11.54 51 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48653074 48653074 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 48653074 48653074 C G SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known silent c.1311 p.L437 1.000 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 44 20 31.25 63 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48653249 48653251 + In_Frame_Del DEL CAC CAC - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 48653249 48653251 CAC - DEL CACNA1G ENST00000359106 human ensembl 70_37 +1 known in_frame_del c.1486_1488 p.H499in_frame_del 0.985:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 14 3 17.65 50 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48655898 48655898 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48655898 48655898 C A SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known silent c.2274 p.L758 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 47 21 30.43 44 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48677083 48677083 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 48677083 48677083 C T SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.3553 p.R1185C 0.979 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 21 11 34.38 37 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48683592 48683592 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 48683592 48683592 G A SNP CACNA1G ENST00000416767 human ensembl 70_37 +1 putative missense c.4630 p.V1544I 0.001 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC ENSG00000006283 42 29 40.85 44 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48685357 48685357 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48685357 48685357 G A SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.4682 p.R1561Q 0.021 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 64 50 43.86 97 0 0.00 CACNA1G 8913 genome.wustl.edu 37 17 48694863 48694863 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 48694863 48694863 G C SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.5086 p.E1696Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 32 5 13.51 41 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1246002 1246002 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 1246002 1246002 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.622 p.R208C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 31 43 58.11 96 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1250536 1250536 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 1250536 1250536 G T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.1084 p.D362Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 31 4 11.43 83 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1251944 1251944 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 1251944 1251944 G A SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known silent c.1494 p.Q498 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 20 7 25.93 30 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1254308 1254309 + Frame_Shift_Ins INS - - G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 1254308 1254309 - G INS CACNA1H ENST00000348261 human ensembl 70_37 +1 known frame_shift_ins c.2301_2302 p.A767fs 0.000:0.004 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 5 2 28.57 16 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1258192 1258192 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 1258192 1258192 G T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.3334 p.D1112Y 0.958 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 73 51 40.80 144 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1259400 1259400 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 1259400 1259400 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known silent c.3732 p.D1244 0.356 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 27 19 41.30 80 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1260464 1260464 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 1260464 1260464 G C SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.3940 p.E1314Q 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 43 20 31.75 94 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1262079 1262079 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 1262079 1262079 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.4700 p.A1567V 0.991 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 33 16 32.65 101 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1268999 1268999 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 1268999 1268999 G A SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.5917 p.A1973T 0.002 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 61 9 12.86 62 0 0.00 CACNA1H 8912 genome.wustl.edu 37 16 1270951 1270951 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1270951 1270951 C G SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known nonsense c.7019 p.S2340* 0.394 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 34 22 39.29 40 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40037064 40037064 + Missense_Mutation SNP T T G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 22 40037064 40037064 T G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.933 p.N311K 0.921 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 76 19 20.00 56 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40043865 40043865 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 40043865 40043865 C T SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.1501 p.L501F 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 79 22 21.78 101 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40059831 40059831 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 40059831 40059831 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.3600 p.I1200M 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 36 68 65.38 47 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40060829 40060829 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 40060829 40060829 C T SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.3770 p.S1257F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 58 38 39.58 50 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40061888 40061888 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 40061888 40061888 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known silent c.3999 p.L1333 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 40 25 38.46 80 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40061971 40061971 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 22 40061971 40061971 G A SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.4082 p.R1361H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 32 50 60.98 44 0 0.00 CACNA1I 8911 genome.wustl.edu 37 22 40068993 40068993 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 40068993 40068993 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known silent c.4707 p.V1569 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 38 10 20.83 99 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201016290 201016290 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 201016290 201016290 C G SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.4621 p.E1541Q 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 23 8 25.81 24 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201030548 201030548 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 201030548 201030548 G C SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.3102 p.I1034M 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 42 9 17.65 73 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201031086 201031086 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 201031086 201031086 G A SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known silent c.3039 p.F1013 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 35 11 23.91 28 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201031122 201031122 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 201031122 201031122 G A SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known silent c.3003 p.L1001 0.817 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 53 18 25.35 56 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201058460 201058460 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201058460 201058460 C T SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.826 p.D276N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 40 31 43.66 100 0 0.00 CACNA1S 779 genome.wustl.edu 37 1 201061236 201061236 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 201061236 201061236 G A SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known silent c.405 p.F135 1.000 pfam_Ion_trans_dom,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 39 35 47.30 67 0 0.00 CACNA2D1 781 genome.wustl.edu 37 7 81624244 81624244 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 81624244 81624244 C G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.1731 p.K577N 1.000 pfam_VDCC_a2/dsu pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 47 16 25.40 63 0 0.00 CACNA2D1 781 genome.wustl.edu 37 7 81642812 81642812 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 81642812 81642812 T G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.1237 p.I413L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 25 18 41.86 58 0 0.00 CACNA2D1 781 genome.wustl.edu 37 7 81746416 81746416 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 81746416 81746416 C T SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.470 p.R157Q 1.000 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 50 24 32.43 72 0 0.00 CACNA2D2 9254 genome.wustl.edu 37 3 50402378 50402378 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 50402378 50402378 G A SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known silent c.3262 p.L1088 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 33 19 36.54 53 0 0.00 CACNA2D2 9254 genome.wustl.edu 37 3 50404531 50404531 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 50404531 50404531 C T SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2432 p.R811K 0.933 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 15 9 37.50 45 0 0.00 CACNA2D2 9254 genome.wustl.edu 37 3 50404872 50404872 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 50404872 50404872 C T SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2375 p.R792H 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 48 9 15.79 71 0 0.00 CACNA2D2 9254 genome.wustl.edu 37 3 50407782 50407782 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 50407782 50407782 C G SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2035 p.E679Q 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 44 6 11.76 31 0 0.00 CACNA2D2 9254 genome.wustl.edu 37 3 50412211 50412211 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50412211 50412211 G A SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known silent c.1941 p.F647 1.000 pfam_VDCC_a2/dsu pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 103 66 39.05 137 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 54604082 54604082 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 54604082 54604082 C G SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known nonsense c.839 p.S280* 0.813 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 17 8 32.00 17 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 54798357 54798357 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 54798357 54798357 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known silent c.1359 p.T453 0.007 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 66 11 14.29 69 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 54919573 54919573 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 54919573 54919573 G A SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known silent c.2016 p.A672 0.368 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 81 11 11.96 60 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 55052341 55052341 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 55052341 55052341 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known missense c.2984 p.S995F 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 23 15 39.47 61 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 55107570 55107570 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 55107570 55107570 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known missense c.3086 p.P1029L 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 36 4 10.00 55 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 55107697 55107697 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 55107697 55107697 G A SNP CACNA2D3 ENST00000478261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CACNA2D3 HGNC ENSG00000157445 18 14 43.75 25 0 0.00 CACNA2D3 55799 genome.wustl.edu 37 3 55108242 55108242 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 55108242 55108242 G A SNP CACNA2D3 ENST00000478261 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors CACNA2D3 HGNC ENSG00000157445 15 8 32.00 13 0 0.00 CACNA2D4 93589 genome.wustl.edu 37 12 1910285 1910285 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 1910285 1910285 C T SNP CACNA2D4 ENST00000382722 human ensembl 70_37 -1 known splice_site c.2793-1 e31-1 1.000 - - - no_errors CACNA2D4 HGNC ENSG00000151062 22 23 51.11 38 0 0.00 CACNA2D4 93589 genome.wustl.edu 37 12 1992068 1992068 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 12 1992068 1992068 C T SNP CACNA2D4 ENST00000382722 human ensembl 70_37 -1 known missense c.1450 p.D484N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 85 57 40.14 87 0 0.00 CACNA2D4 93589 genome.wustl.edu 37 12 1995484 1995484 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 1995484 1995484 C T SNP CACNA2D4 ENST00000382722 human ensembl 70_37 -1 known missense c.898 p.G300S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 50 30 37.50 37 0 0.00 CACNB1 782 genome.wustl.edu 37 17 37331542 37331542 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37331542 37331542 C T SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known silent c.1701 p.R567 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 15 8 34.78 34 0 0.00 CACNB1 782 genome.wustl.edu 37 17 37343054 37343054 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 17 37343054 37343054 G A SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known silent c.543 p.L181 1.000 superfamily_SH3_domain,prints_VDCC_L_b1su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 23 28 54.90 46 0 0.00 CACNB1 782 genome.wustl.edu 37 17 37343127 37343127 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 37343127 37343127 C G SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known missense c.470 p.G157A 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 72 19 20.88 60 0 0.00 CACNB1 782 genome.wustl.edu 37 17 37343683 37343683 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 37343683 37343683 C T SNP CACNB1 ENST00000577582 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CACNB1 HGNC ENSG00000067191 12 3 20.00 20 0 0.00 CACNB1 782 genome.wustl.edu 37 17 37353713 37353713 + Nonsense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 37353713 37353713 G T SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known nonsense c.36 p.Y12* 1.000 prints_VDCC_L_b1su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 8 36 81.82 51 0 0.00 CACNB2 783 genome.wustl.edu 37 10 18439857 18439857 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 18439857 18439857 G A SNP CACNB2 ENST00000324631 human ensembl 70_37 +1 known missense c.166 p.D56N 0.999 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 20 7 25.93 22 0 0.00 CACNB2 783 genome.wustl.edu 37 10 18828165 18828165 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 18828165 18828165 C G SNP CACNB2 ENST00000324631 human ensembl 70_37 +1 known missense c.1495 p.Q499E 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 57 35 38.04 70 0 0.00 CACNB3 784 genome.wustl.edu 37 12 49217216 49217216 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49217216 49217216 G C SNP CACNB3 ENST00000301050 human ensembl 70_37 +1 known missense c.135 p.E45D 1.000 pfam_VDCC_L_bsu,superfamily_SH3_domain,prints_VDCC_L_b3su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 37 16 30.19 48 0 0.00 CACNB3 784 genome.wustl.edu 37 12 49220781 49220781 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 49220781 49220781 G A SNP CACNB3 ENST00000301050 human ensembl 70_37 +1 known missense c.1015 p.E339K 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 25 22 46.81 70 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152695761 152695761 + Nonsense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 152695761 152695761 G A SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known nonsense c.1438 p.Q480* 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 46 28 36.84 91 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152698450 152698450 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 152698450 152698450 G T SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known silent c.1272 p.L424 0.996 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 36 35 49.30 99 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152698533 152698533 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152698533 152698533 C G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.1189 p.E397Q 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 46 26 36.11 77 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152711885 152711885 + Missense_Mutation SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152711885 152711885 T G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.876 p.E292D 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 30 4 11.76 29 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152717265 152717265 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152717265 152717265 C G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.831 p.K277N 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 47 6 11.32 54 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152727085 152727085 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 152727085 152727085 C T SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.662 p.R221H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 40 15 27.27 40 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152830219 152830219 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 152830219 152830219 G T SNP CACNB4 ENST00000360283 human ensembl 70_37 -1 known missense c.9 p.D3E 1.000 prints_VDCC_L_b3su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB4 HGNC ENSG00000182389 12 4 25.00 36 0 0.00 CACNB4 785 genome.wustl.edu 37 2 152954869 152954869 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 152954869 152954869 G A SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.122 p.T41I 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 47 31 39.24 60 0 0.00 CACNG1 786 genome.wustl.edu 37 17 65050167 65050167 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 65050167 65050167 C T SNP CACNG1 ENST00000226021 human ensembl 70_37 +1 known silent c.285 p.F95 0.986 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 30 6 16.67 32 0 0.00 CACNG3 10368 genome.wustl.edu 37 16 24358139 24358139 + Splice_Site SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 16 24358139 24358139 G A SNP CACNG3 ENST00000005284 human ensembl 70_37 +1 known splice_site c.295+1 e2+1 1.000 - - - no_errors CACNG3 HGNC ENSG00000006116 31 23 41.82 64 0 0.00 CACNG5 27091 genome.wustl.edu 37 17 64876774 64876774 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 64876774 64876774 G A SNP CACNG5 ENST00000169565 human ensembl 70_37 +1 known silent c.384 p.T128 0.765 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 81 20 19.80 47 0 0.00 CACNG5 27091 genome.wustl.edu 37 17 64880840 64880840 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 64880840 64880840 G A SNP CACNG5 ENST00000169565 human ensembl 70_37 +1 known missense c.632 p.G211E 0.001 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 87 50 36.23 143 0 0.00 CACNG6 59285 genome.wustl.edu 37 19 54515263 54515263 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 54515263 54515263 G A SNP CACNG6 ENST00000252729 human ensembl 70_37 +1 known silent c.603 p.Q201 0.112 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 74 16 17.78 43 0 0.00 CACNG6 59285 genome.wustl.edu 37 19 54515286 54515286 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 54515286 54515286 C T SNP CACNG6 ENST00000252729 human ensembl 70_37 +1 known missense c.626 p.P209L 0.000 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 89 15 14.42 68 0 0.00 CACNG7 59284 genome.wustl.edu 37 19 54416107 54416107 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 54416107 54416107 G A SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.22 p.A8T 1.000 prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 28 8 22.22 17 0 0.00 CACNG7 59284 genome.wustl.edu 37 19 54418666 54418666 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 54418666 54418666 G A SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.331 p.V111M 0.998 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 20 30 60.00 19 0 0.00 CACNG7 59284 genome.wustl.edu 37 19 54418743 54418743 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 54418743 54418743 C G SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.408 p.I136M 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 24 11 31.43 82 0 0.00 CACNG7 59284 genome.wustl.edu 37 19 54445319 54445319 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 54445319 54445319 C T SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known silent c.600 p.F200 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 69 27 28.12 117 0 0.00 CACNG8 59283 genome.wustl.edu 37 19 54466619 54466619 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 54466619 54466619 G C SNP CACNG8 ENST00000270458 human ensembl 70_37 +1 known missense c.223 p.E75Q 0.974 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 22 8 26.67 19 0 0.00 CACTIN 58509 genome.wustl.edu 37 19 3610756 3610756 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 3610756 3610756 G A SNP CACTIN ENST00000221899 human ensembl 70_37 -1 known missense c.2513 p.S838F 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 34 4 10.53 40 0 0.00 CACTIN 58509 genome.wustl.edu 37 19 3614486 3614486 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 3614486 3614486 C T SNP CACTIN ENST00000221899 human ensembl 70_37 -1 known missense c.1060 p.E354K 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 46 36 43.90 82 0 0.00 CACUL1 143384 genome.wustl.edu 37 10 120460911 120460911 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 120460911 120460911 A G SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known missense c.703 p.Y235H 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 14 14 50.00 48 0 0.00 CACUL1 143384 genome.wustl.edu 37 10 120488876 120488876 + Silent SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 120488876 120488876 C G SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known silent c.528 p.S176 0.719 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 11 6 35.29 32 0 0.00 CACUL1 143384 genome.wustl.edu 37 10 120513962 120513962 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 120513962 120513962 G A SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known missense c.313 p.P105S 0.736 NULL pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 42 5 10.64 40 0 0.00 CACYBP 27101 genome.wustl.edu 37 1 174973857 174973857 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 174973857 174973857 G A SNP CACYBP ENST00000367679 human ensembl 70_37 +1 known silent c.123 p.K41 1.000 pfam_Siah-Interact_N pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS - no_errors CACYBP HGNC ENSG00000116161 56 54 49.09 79 0 0.00 CAD 790 genome.wustl.edu 37 2 27444186 27444186 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27444186 27444186 T A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.323 p.L108Q 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 30 10 25.00 38 0 0.00 CAD 790 genome.wustl.edu 37 2 27447715 27447715 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27447715 27447715 C G SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.1357 p.L453V 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 36 15 29.41 37 0 0.00 CAD 790 genome.wustl.edu 37 2 27457541 27457541 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27457541 27457541 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known silent c.3774 p.V1258 0.598 tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 45 36 44.44 55 0 0.00 CAD 790 genome.wustl.edu 37 2 27459176 27459176 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 27459176 27459176 G C SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4099 p.E1367Q 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 13 8 38.10 46 0 0.00 CAD 790 genome.wustl.edu 37 2 27459221 27459221 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 27459221 27459221 G C SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4144 p.E1382Q 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 82 53 39.26 141 0 0.00 CAD 790 genome.wustl.edu 37 2 27459279 27459279 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 27459279 27459279 G C SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4202 p.G1401A 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 40 19 32.20 50 0 0.00 CAD 790 genome.wustl.edu 37 2 27461354 27461354 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 27461354 27461354 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4916 p.A1639V 0.999 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 34 8 18.60 66 0 0.00 CAD 790 genome.wustl.edu 37 2 27465560 27465560 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 27465560 27465560 G A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6295 p.V2099I 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 23 25 52.08 35 0 0.00 CAD 790 genome.wustl.edu 37 2 27465560 27465560 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 27465560 27465560 G A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6295 p.V2099I 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 43 36 45.57 67 0 0.00 CAD 790 genome.wustl.edu 37 2 27466321 27466321 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 27466321 27466321 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6613 p.R2205C 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 20 3 13.04 23 0 0.00 CADM1 23705 genome.wustl.edu 37 11 115047213 115047213 + Missense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 115047213 115047213 T A SNP CADM1 ENST00000452722 human ensembl 70_37 -1 known missense c.1310 p.K437M 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC ENSG00000182985 35 4 10.26 35 0 0.00 CADM1 23705 genome.wustl.edu 37 11 115088689 115088689 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 115088689 115088689 C G SNP CADM1 ENST00000452722 human ensembl 70_37 -1 known missense c.744 p.Q248H 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC ENSG00000182985 31 17 35.42 49 0 0.00 CADM1 23705 genome.wustl.edu 37 11 115375115 115375115 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 115375115 115375115 C T SNP CADM1 ENST00000537140 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CADM1 HGNC ENSG00000182985 39 18 31.58 33 0 0.00 CADM2 253559 genome.wustl.edu 37 3 85008741 85008741 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 85008741 85008741 C A SNP CADM2 ENST00000473523 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors CADM2 HGNC ENSG00000175161 48 24 33.33 63 0 0.00 CADM3 57863 genome.wustl.edu 37 1 159162383 159162383 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 159162383 159162383 G A SNP CADM3 ENST00000368124 human ensembl 70_37 +1 known missense c.347 p.R116Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM3 HGNC ENSG00000162706 65 11 14.47 56 0 0.00 CADM4 199731 genome.wustl.edu 37 19 44129384 44129384 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 44129384 44129384 C T SNP CADM4 ENST00000222374 human ensembl 70_37 -1 known nonsense c.774 p.W258* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM4 HGNC ENSG00000105767 39 18 31.58 62 0 0.00 CADM4 199731 genome.wustl.edu 37 19 44131041 44131041 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 44131041 44131041 G A SNP CADM4 ENST00000222374 human ensembl 70_37 -1 known missense c.394 p.R132W 1.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM4 HGNC ENSG00000105767 51 62 54.87 59 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62385197 62385197 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 62385197 62385197 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.3946 p.E1316Q 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 72 32 30.77 128 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62467447 62467447 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62467447 62467447 T G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.3124 p.M1042L 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 55 8 12.70 98 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62499350 62499350 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 62499350 62499350 G A SNP CADPS ENST00000283269 human ensembl 70_37 -1 known silent c.2613 p.V871 1.000 pfam_Ca-dep_secretion_activator pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 7 5 41.67 25 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62499355 62499355 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 62499355 62499355 G T SNP CADPS ENST00000283269 human ensembl 70_37 -1 known missense c.2608 p.P870T 1.000 pfam_Ca-dep_secretion_activator pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 8 20 71.43 41 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62518688 62518688 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 62518688 62518688 C T SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.2149 p.A717T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 50 25 32.89 61 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62556598 62556598 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 62556598 62556598 G A SNP CADPS ENST00000383710 human ensembl 70_37 -1 known silent c.1593 p.I531 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 173 31 14.98 240 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62739410 62739410 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 62739410 62739410 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.594 p.Q198H 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 11 11 50.00 33 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62860378 62860378 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 62860378 62860378 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.327 p.Q109H 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 36 20 35.71 63 0 0.00 CADPS 8618 genome.wustl.edu 37 3 62860455 62860455 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 62860455 62860455 C T SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.250 p.A84T 0.998 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 19 14 42.42 17 0 0.00 CADPS2 93664 genome.wustl.edu 37 7 122114572 122114572 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 122114572 122114572 C T SNP CADPS2 ENST00000449022 human ensembl 70_37 -1 known splice_site c.1862-1 e13-1 1.000 - - - no_errors CADPS2 HGNC ENSG00000081803 46 20 30.30 40 0 0.00 CADPS2 93664 genome.wustl.edu 37 7 122255280 122255280 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 7 122255280 122255280 T C SNP CADPS2 ENST00000449022 human ensembl 70_37 -1 known missense c.1178 p.E393G 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 2 3 60.00 14 0 0.00 CAGE1 285782 genome.wustl.edu 37 6 7373452 7373452 + Nonsense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 7373452 7373452 G A SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known nonsense c.1600 p.Q534* 0.788 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 40 23 36.51 48 0 0.00 CAGE1 285782 genome.wustl.edu 37 6 7373584 7373584 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7373584 7373584 C T SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known missense c.1468 p.E490K 1.000 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 42 13 23.64 45 0 0.00 CAGE1 285782 genome.wustl.edu 37 6 7386054 7386054 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 7386054 7386054 C T SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known missense c.247 p.E83K 0.015 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 43 11 20.37 45 0 0.00 CALB1 793 genome.wustl.edu 37 8 91081237 91081237 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 91081237 91081237 C T SNP CALB1 ENST00000265431 human ensembl 70_37 -1 known missense c.361 p.E121K 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB1 HGNC ENSG00000104327 48 16 25.00 42 0 0.00 CALB1 793 genome.wustl.edu 37 8 91094283 91094283 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 91094283 91094283 G A SNP CALB1 ENST00000265431 human ensembl 70_37 -1 known missense c.127 p.L43F 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB1 HGNC ENSG00000104327 14 9 39.13 36 0 0.00 CALB2 794 genome.wustl.edu 37 16 71408656 71408656 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71408656 71408656 G C SNP CALB2 ENST00000302628 human ensembl 70_37 +1 known missense c.180 p.K60N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB2 HGNC ENSG00000172137 4 9 69.23 23 0 0.00 CALB2 794 genome.wustl.edu 37 16 71408656 71408656 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 71408656 71408656 G C SNP CALB2 ENST00000302628 human ensembl 70_37 +1 known missense c.180 p.K60N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB2 HGNC ENSG00000172137 10 4 28.57 24 0 0.00 CALCB 797 genome.wustl.edu 37 11 15098849 15098849 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 15098849 15098849 G C SNP CALCB ENST00000324229 human ensembl 70_37 +1 known missense c.242 p.R81T 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 37 8 17.78 39 0 0.00 CALCB 797 genome.wustl.edu 37 11 15098849 15098849 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 15098849 15098849 G C SNP CALCB ENST00000324229 human ensembl 70_37 +1 known missense c.242 p.R81T 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 35 22 38.60 40 0 0.00 CALCOCO1 57658 genome.wustl.edu 37 12 54109651 54109651 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 54109651 54109651 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.1186 p.E396K 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 46 22 31.88 62 0 0.00 CALCOCO1 57658 genome.wustl.edu 37 12 54115347 54115347 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 54115347 54115347 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.662 p.R221Q 0.934 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 48 38 44.19 90 0 0.00 CALCOCO1 57658 genome.wustl.edu 37 12 54115830 54115830 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 54115830 54115830 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known silent c.588 p.T196 0.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 19 10 34.48 19 0 0.00 CALCOCO1 57658 genome.wustl.edu 37 12 54118528 54118528 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54118528 54118528 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.160 p.E54K 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 38 20 34.48 54 0 0.00 CALCOCO2 10241 genome.wustl.edu 37 17 46928958 46928958 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 46928958 46928958 G T SNP CALCOCO2 ENST00000258947 human ensembl 70_37 +1 known nonsense c.670 p.E224* 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO2 HGNC ENSG00000136436 39 11 22.00 29 0 0.00 CALCRL 10203 genome.wustl.edu 37 2 188225471 188225471 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 188225471 188225471 C A SNP CALCRL ENST00000392370 human ensembl 70_37 -1 known missense c.635 p.C212F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 11 4 26.67 23 0 0.00 CALD1 800 genome.wustl.edu 37 7 134618280 134618280 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 134618280 134618280 C A SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.760 p.H254N 0.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 24 7 22.58 38 0 0.00 CALD1 800 genome.wustl.edu 37 7 134618683 134618683 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 134618683 134618683 G A SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.1163 p.R388H 0.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 28 6 17.65 51 0 0.00 CALD1 800 genome.wustl.edu 37 7 134618729 134618729 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 134618729 134618729 G C SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.1209 p.K403N 0.889 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 32 4 11.11 40 0 0.00 CALHM1 255022 genome.wustl.edu 37 10 105215352 105215352 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 105215352 105215352 C T SNP CALHM1 ENST00000329905 human ensembl 70_37 -1 known silent c.708 p.T236 0.078 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 34 16 32.00 37 0 0.00 CALHM2 51063 genome.wustl.edu 37 10 105209516 105209516 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 105209516 105209516 G A SNP CALHM2 ENST00000260743 human ensembl 70_37 -1 known silent c.183 p.I61 0.736 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 16 10 38.46 36 0 0.00 CALHM3 119395 genome.wustl.edu 37 10 105233227 105233227 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 10 105233227 105233227 G A SNP CALHM3 ENST00000369783 human ensembl 70_37 -1 known missense c.778 p.R260C 0.945 NULL NULL - no_errors CALHM3 HGNC ENSG00000183128 26 31 54.39 60 0 0.00 CALHM3 119395 genome.wustl.edu 37 10 105233456 105233456 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 105233456 105233456 G A SNP CALHM3 ENST00000369783 human ensembl 70_37 -1 known silent c.549 p.I183 0.665 NULL NULL - no_errors CALHM3 HGNC ENSG00000183128 33 18 35.29 42 0 0.00 CALM1 801 genome.wustl.edu 37 14 90870268 90870268 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90870268 90870268 G A SNP CALM1 ENST00000356978 human ensembl 70_37 +1 known missense c.241 p.D81N 1.000 pfam_EF-hand_Ca_insen,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM1 HGNC ENSG00000198668 46 13 22.03 100 0 0.00 CALM1 801 genome.wustl.edu 37 14 90870837 90870837 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 90870837 90870837 G A SNP CALM1 ENST00000356978 human ensembl 70_37 +1 known missense c.400 p.D134N 1.000 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM1 HGNC ENSG00000198668 86 22 20.37 95 0 0.00 CALM2 805 genome.wustl.edu 37 2 47403565 47403565 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 47403565 47403565 C G SNP CALM2 ENST00000484408 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CALM2 HGNC ENSG00000143933 30 18 37.50 48 0 0.00 CALM3 808 genome.wustl.edu 37 19 47109107 47109107 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 47109107 47109107 G C SNP CALM3 ENST00000291295 human ensembl 70_37 +1 known missense c.27 p.Q9H 1.000 pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM3 HGNC ENSG00000160014 102 30 22.73 125 0 0.00 CALM3 808 genome.wustl.edu 37 19 47112431 47112431 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 47112431 47112431 G A SNP CALM3 ENST00000477244 human ensembl 70_37 +1 known rna NULL NULL 0.793 - - - no_errors CALM3 HGNC ENSG00000160014 56 22 27.85 66 0 0.00 CALML4 91860 genome.wustl.edu 37 15 68497641 68497641 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 68497641 68497641 C T SNP CALML4 ENST00000467889 human ensembl 70_37 -1 known missense c.74 p.G25E 0.001 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML4 HGNC ENSG00000129007 23 4 14.81 50 0 0.00 CALML6 163688 genome.wustl.edu 37 1 1847898 1847898 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1847898 1847898 G A SNP CALML6 ENST00000307786 human ensembl 70_37 +1 known missense c.97 p.E33K 0.448 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML6 HGNC ENSG00000169885 26 16 38.10 42 0 0.00 CALN1 83698 genome.wustl.edu 37 7 71252834 71252834 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 71252834 71252834 C T SNP CALN1 ENST00000395275 human ensembl 70_37 -1 known missense c.712 p.A238T 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALN1 HGNC ENSG00000183166 32 12 26.67 58 0 0.00 CALR 811 genome.wustl.edu 37 19 13049556 13049556 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 13049556 13049556 C G SNP CALR ENST00000316448 human ensembl 70_37 +1 known silent c.63 p.V21 0.762 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 40 12 23.08 56 0 0.00 CALR 811 genome.wustl.edu 37 19 13050249 13050249 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 13050249 13050249 G C SNP CALR ENST00000316448 human ensembl 70_37 +1 known missense c.201 p.Q67H 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 21 17 44.74 34 0 0.00 CALR 811 genome.wustl.edu 37 19 13050346 13050346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13050346 13050346 G C SNP CALR ENST00000316448 human ensembl 70_37 +1 known missense c.298 p.E100Q 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 59 23 28.05 63 0 0.00 CALR 811 genome.wustl.edu 37 19 13054640 13054640 + Missense_Mutation SNP G G T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 13054640 13054640 G T SNP CALR ENST00000316448 human ensembl 70_37 +1 known missense c.1167 p.E389D 0.958 pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 40 5 11.11 35 0 0.00 CALU 813 genome.wustl.edu 37 7 128394425 128394425 + Nonsense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 128394425 128394425 C T SNP CALU ENST00000249364 human ensembl 70_37 +1 known nonsense c.331 p.R111* 1.000 pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALU HGNC ENSG00000128595 54 32 36.36 61 0 0.00 CAMK1 8536 genome.wustl.edu 37 3 9802348 9802348 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 3 9802348 9802348 G C SNP CAMK1 ENST00000256460 human ensembl 70_37 -1 known missense c.737 p.S246C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1 HGNC ENSG00000134072 22 16 42.11 39 0 0.00 CAMK1 8536 genome.wustl.edu 37 3 9803370 9803370 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9803370 9803370 C G SNP CAMK1 ENST00000256460 human ensembl 70_37 -1 known missense c.501 p.K167N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1 HGNC ENSG00000134072 38 15 28.30 44 0 0.00 CAMK1D 57118 genome.wustl.edu 37 10 12811675 12811675 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 12811675 12811675 G A SNP CAMK1D ENST00000378847 human ensembl 70_37 +1 known missense c.442 p.E148K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1D HGNC ENSG00000183049 20 22 52.38 66 0 0.00 CAMK2A 815 genome.wustl.edu 37 5 149627368 149627368 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149627368 149627368 G C SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.910 p.L304V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2A HGNC ENSG00000070808 48 15 23.81 35 0 0.00 CAMK2A 815 genome.wustl.edu 37 5 149644551 149644551 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 149644551 149644551 C T SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.185 p.R62H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2A HGNC ENSG00000070808 20 4 16.67 11 0 0.00 CAMK2A 815 genome.wustl.edu 37 5 149652711 149652711 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 149652711 149652711 G A SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.74 p.S25L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2A HGNC ENSG00000070808 33 18 35.29 60 0 0.00 CAMK2B 816 genome.wustl.edu 37 7 44259838 44259838 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44259838 44259838 G A SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known silent c.1824 p.H608 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2B HGNC ENSG00000058404 85 63 42.57 113 0 0.00 CAMK2B 816 genome.wustl.edu 37 7 44268519 44268519 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44268519 44268519 G A SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known silent c.1344 p.P448 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2B HGNC ENSG00000058404 40 14 25.93 52 0 0.00 CAMK2B 816 genome.wustl.edu 37 7 44268527 44268527 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 44268527 44268527 G C SNP CAMK2B ENST00000489429 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CAMK2B HGNC ENSG00000058404 39 11 22.00 80 0 0.00 CAMK2B 816 genome.wustl.edu 37 7 44268619 44268619 + RNA SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 44268619 44268619 G C SNP CAMK2B ENST00000489429 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CAMK2B HGNC ENSG00000058404 14 9 39.13 32 0 0.00 CAMK2B 816 genome.wustl.edu 37 7 44283089 44283089 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 44283089 44283089 G T SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known missense c.452 p.A151D 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2B HGNC ENSG00000058404 38 17 30.91 29 0 0.00 CAMK2D 817 genome.wustl.edu 37 4 114386752 114386752 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 114386752 114386752 G T SNP CAMK2D ENST00000454265 human ensembl 70_37 -1 known missense c.1117 p.Q373K 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2D HGNC ENSG00000145349 33 4 10.81 46 0 0.00 CAMK2D 817 genome.wustl.edu 37 4 114468803 114468803 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 114468803 114468803 C T SNP CAMK2D ENST00000511664 human ensembl 70_37 -1 novel silent c.411 p.L137 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2D HGNC ENSG00000145349 41 17 29.31 81 0 0.00 CAMK2D 817 genome.wustl.edu 37 4 114469863 114469863 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 114469863 114469863 C G SNP CAMK2D ENST00000454265 human ensembl 70_37 -1 known missense c.364 p.E122Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2D HGNC ENSG00000145349 20 7 25.93 17 0 0.00 CAMK2G 818 genome.wustl.edu 37 10 75576468 75576468 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 75576468 75576468 C T SNP CAMK2G ENST00000487167 human ensembl 70_37 -1 known rna NULL NULL 0.155 - - - no_errors CAMK2G HGNC ENSG00000148660 4 4 50.00 9 0 0.00 CAMK2G 818 genome.wustl.edu 37 10 75608805 75608805 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 75608805 75608805 G A SNP CAMK2G ENST00000423381 human ensembl 70_37 -1 known silent c.483 p.A161 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2G HGNC ENSG00000148660 94 23 19.49 103 1 0.96 CAMK2N2 94032 genome.wustl.edu 37 3 183977945 183977945 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 183977945 183977945 C T SNP CAMK2N2 ENST00000296238 human ensembl 70_37 -1 known silent c.240 p.*80 1.000 NULL NULL - no_errors CAMK2N2 HGNC ENSG00000163888 18 7 28.00 14 0 0.00 CAMK2N2 94032 genome.wustl.edu 37 3 183978917 183978917 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 183978917 183978917 G A SNP CAMK2N2 ENST00000296238 human ensembl 70_37 -1 known nonsense c.157 p.R53* 1.000 NULL NULL - no_errors CAMK2N2 HGNC ENSG00000163888 26 5 16.13 16 0 0.00 CAMK4 814 genome.wustl.edu 37 5 110814092 110814092 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 110814092 110814092 G C SNP CAMK4 ENST00000282356 human ensembl 70_37 +1 known missense c.715 p.E239Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK4 HGNC ENSG00000152495 17 13 43.33 32 0 0.00 CAMK4 814 genome.wustl.edu 37 5 110818492 110818492 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 110818492 110818492 T G SNP CAMK4 ENST00000282356 human ensembl 70_37 +1 known missense c.838 p.L280V 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK4 HGNC ENSG00000152495 18 10 35.71 54 0 0.00 CAMKK1 84254 genome.wustl.edu 37 17 3773109 3773109 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3773109 3773109 C T SNP CAMKK1 ENST00000381771 human ensembl 70_37 -1 known missense c.1312 p.V438M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK1 HGNC ENSG00000004660 33 4 10.81 42 0 0.00 CAMKK2 10645 genome.wustl.edu 37 12 121682976 121682976 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 121682976 121682976 T C SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.1520 p.E507G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK2 HGNC ENSG00000110931 12 8 40.00 28 0 0.00 CAMKK2 10645 genome.wustl.edu 37 12 121693424 121693424 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 121693424 121693424 G T SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.836 p.P279H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK2 HGNC ENSG00000110931 32 4 11.11 49 0 0.00 CAMKK2 10645 genome.wustl.edu 37 12 121712275 121712275 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 121712275 121712275 C T SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.55 p.E19K 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK2 HGNC ENSG00000110931 19 21 52.50 34 0 0.00 CAMKK2 10645 genome.wustl.edu 37 12 121712313 121712313 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 121712313 121712313 G C SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.17 p.S6C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK2 HGNC ENSG00000110931 39 29 42.65 25 0 0.00 CAMKMT 79823 genome.wustl.edu 37 2 44776705 44776705 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 44776705 44776705 C T SNP CAMKMT ENST00000402247 human ensembl 70_37 +1 putative missense c.388 p.H130Y 0.113 NULL NULL - no_errors CAMKMT HGNC ENSG00000143919 45 7 13.46 17 0 0.00 CAMKMT 79823 genome.wustl.edu 37 2 44981214 44981214 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 44981214 44981214 G A SNP CAMKMT ENST00000378494 human ensembl 70_37 +1 known missense c.719 p.R240K 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 33 26 44.07 76 0 0.00 CAMKMT 79823 genome.wustl.edu 37 2 44981216 44981216 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 44981216 44981216 G T SNP CAMKMT ENST00000378494 human ensembl 70_37 +1 known missense c.721 p.A241S 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 69 12 14.81 82 0 0.00 CAMLG 819 genome.wustl.edu 37 5 134074479 134074479 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 134074479 134074479 G T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.169 p.A57S 0.992 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 22 5 18.52 25 0 0.00 CAMLG 819 genome.wustl.edu 37 5 134074480 134074480 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 134074480 134074480 C T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.170 p.A57V 0.845 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 22 5 18.52 25 0 0.00 CAMLG 819 genome.wustl.edu 37 5 134076890 134076890 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 134076890 134076890 G A SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.310 p.E104K 0.721 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 42 17 28.81 65 0 0.00 CAMLG 819 genome.wustl.edu 37 5 134086562 134086562 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134086562 134086562 C T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known silent c.813 p.F271 1.000 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 72 20 21.74 111 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138710293 138710293 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 138710293 138710293 C G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.4162 p.E1388Q 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 59 35 37.23 75 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138710415 138710415 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 138710415 138710415 C T SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.4040 p.R1347Q 0.996 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 32 8 20.00 56 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138714509 138714509 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 138714509 138714509 C G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.2031 p.E677D 0.688 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 12 16 57.14 26 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138714664 138714664 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 138714664 138714664 G A SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.1876 p.R626W 0.641 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 39 26 40.00 48 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138742205 138742205 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 138742205 138742205 G T SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.944 p.T315N 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 18 3 14.29 26 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138754361 138754361 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 138754361 138754361 G C SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.793 p.L265V 0.975 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 27 11 28.95 38 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138758251 138758251 + RNA SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 138758251 138758251 G T SNP CAMSAP1 ENST00000460094 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CAMSAP1 HGNC ENSG00000130559 24 20 45.45 28 0 0.00 CAMSAP1 157922 genome.wustl.edu 37 9 138774900 138774900 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 138774900 138774900 T G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.185 p.D62A 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 15 3 16.67 49 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200730003 200730003 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 200730003 200730003 C A SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.176 p.T59K 0.994 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 31 4 11.43 37 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200784767 200784767 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 200784767 200784767 C G SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.640 p.Q214E 1.000 pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 15 5 25.00 33 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200817339 200817339 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 200817339 200817339 A T SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.1475 p.E492V 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 51 21 29.17 52 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200818630 200818630 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 200818630 200818630 G A SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.2766 p.M922I 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 20 13 39.39 13 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200818904 200818904 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 200818904 200818904 C T SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.3040 p.R1014W 0.999 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 26 22 45.83 38 0 0.00 CAMSAP2 23271 genome.wustl.edu 37 1 200827096 200827096 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 200827096 200827096 C G SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.4379 p.S1460C 1.000 pfam_CKK_domain,superfamily_PRC_barrell-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 22 7 23.33 30 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7670187 7670187 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 7670187 7670187 C T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known missense c.224 p.T75I 0.968 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 44 5 10.20 66 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7671380 7671380 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 7671380 7671380 G T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known nonsense c.544 p.E182* 0.997 pfam_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 14 12 46.15 31 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7675783 7675783 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7675783 7675783 G A SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known missense c.1096 p.E366K 0.931 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 53 12 18.46 55 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7676636 7676636 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 7676636 7676636 C T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known silent c.1338 p.V446 0.993 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 11 4 26.67 23 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7678011 7678011 + Nonsense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 7678011 7678011 G T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known nonsense c.2713 p.E905* 0.915 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 0 6 100.00 16 0 0.00 CAMSAP3 57662 genome.wustl.edu 37 19 7682532 7682532 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 7682532 7682532 G A SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known silent c.3510 p.K1170 1.000 pfam_CKK_domain,superfamily_PRC_barrell-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 23 8 25.81 30 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7309668 7309668 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 7309668 7309668 C G SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 30 17 36.17 37 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7723501 7723501 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 7723501 7723501 G C SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.894 p.G298 0.998 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 81 10 10.99 68 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7723699 7723699 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 7723699 7723699 C T SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.1092 p.S364 0.996 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 11 33 75.00 42 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7724159 7724159 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 7724159 7724159 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.1552 p.G518R 0.010 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 37 8 17.39 31 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7724494 7724494 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7724494 7724494 G C SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.1887 p.Q629H 0.967 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 16 15 48.39 30 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7724548 7724548 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7724548 7724548 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.1941 p.V647 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 23 14 37.84 33 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7724942 7724942 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 7724942 7724942 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.2335 p.D779N 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 578 74 11.35 548 0 0.00 CAMTA1 23261 genome.wustl.edu 37 1 7798111 7798111 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 7798111 7798111 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.3751 p.E1251K 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 22 5 18.52 28 0 0.00 CAMTA2 23125 genome.wustl.edu 37 17 4883075 4883075 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4883075 4883075 G A SNP CAMTA2 ENST00000414043 human ensembl 70_37 -1 known silent c.1611 p.I537 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 30 15 32.61 42 0 0.00 CAND1 55832 genome.wustl.edu 37 12 67698430 67698430 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 67698430 67698430 A C SNP CAND1 ENST00000299218 human ensembl 70_37 +1 known missense c.1339 p.S447R 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 24 8 25.00 32 0 0.00 CAND2 23066 genome.wustl.edu 37 3 12856710 12856710 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 12856710 12856710 C T SNP CAND2 ENST00000456430 human ensembl 70_37 +1 known silent c.1077 p.I359 0.999 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 27 17 38.64 32 0 0.00 CANT1 124583 genome.wustl.edu 37 17 76993650 76993650 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 76993650 76993650 G A SNP CANT1 ENST00000302345 human ensembl 70_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 41 20 32.79 78 0 0.00 CANX 821 genome.wustl.edu 37 5 179134136 179134136 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179134136 179134136 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known nonsense c.354 p.W118* 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 31 8 20.51 60 0 0.00 CANX 821 genome.wustl.edu 37 5 179146670 179146670 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 179146670 179146670 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known missense c.1018 p.D340N 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 43 12 21.82 39 0 0.00 CANX 821 genome.wustl.edu 37 5 179149866 179149866 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179149866 179149866 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known missense c.1349 p.R450K 0.317 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 36 25 40.98 56 0 0.00 CANX 821 genome.wustl.edu 37 5 179151711 179151711 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 179151711 179151711 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known silent c.1677 p.V559 1.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 11 3 21.43 19 0 0.00 CAP1 10487 genome.wustl.edu 37 1 40536182 40536182 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40536182 40536182 C G SNP CAP1 ENST00000372792 human ensembl 70_37 +1 known missense c.1198 p.Q400E 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 44 19 29.69 99 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64950299 64950299 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64950299 64950299 G C SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.127 p.E43Q 0.998 smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 58 18 23.68 32 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64950385 64950385 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64950385 64950385 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known silent c.213 p.K71 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 31 9 22.50 26 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64950427 64950427 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 64950427 64950427 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known nonsense c.255 p.W85* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 61 8 11.59 64 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64954750 64954750 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64954750 64954750 C G SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.824 p.S275C 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 21 20 48.78 40 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64956162 64956162 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64956162 64956162 C G SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known silent c.1110 p.L370 0.034 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 19 19 50.00 26 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64974041 64974041 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64974041 64974041 C A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.1461 p.F487L 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 53 39 42.39 92 0 0.00 CAPN1 823 genome.wustl.edu 37 11 64974261 64974261 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64974261 64974261 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.1576 p.D526N 1.000 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 20 20 50.00 34 0 0.00 CAPN10 11132 genome.wustl.edu 37 2 241535810 241535810 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 241535810 241535810 C T SNP CAPN10 ENST00000391984 human ensembl 70_37 +1 known silent c.1353 p.Y451 0.588 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 16 11 40.74 26 0 0.00 CAPN10 11132 genome.wustl.edu 37 2 241535885 241535885 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 241535885 241535885 C T SNP CAPN10 ENST00000391984 human ensembl 70_37 +1 known silent c.1428 p.D476 0.076 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 52 33 38.82 98 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39224780 39224780 + Splice_Site SNP A A C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39224780 39224780 A C SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known splice_site c.1878+2 e17+2 0.987 - - - no_errors CAPN12 HGNC ENSG00000182472 32 8 20.00 27 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39224992 39224992 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 39224992 39224992 G A SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.1782 p.L594 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 24 16 40.00 54 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39230771 39230771 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 39230771 39230771 G A SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.649 p.L217 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 33 5 13.16 32 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39230811 39230811 + Silent SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 39230811 39230811 A T SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.609 p.A203 0.809 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 22 3 12.00 30 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39232548 39232548 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 39232548 39232548 G C SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.429 p.L143 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 25 31 55.36 26 0 0.00 CAPN12 147968 genome.wustl.edu 37 19 39234770 39234770 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 39234770 39234770 G A SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.36 p.L12 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 41 25 37.88 94 0 0.00 CAPN13 92291 genome.wustl.edu 37 2 30955386 30955386 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 30955386 30955386 C T SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known silent c.1845 p.V615 0.856 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 36 37 50.68 46 0 0.00 CAPN13 92291 genome.wustl.edu 37 2 30976051 30976051 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 30976051 30976051 C G SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known missense c.955 p.D319H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 43 42 49.41 76 0 0.00 CAPN13 92291 genome.wustl.edu 37 2 30980990 30980990 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 30980990 30980990 C T SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known missense c.788 p.R263K 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 60 47 43.93 100 0 0.00 CAPN14 440854 genome.wustl.edu 37 2 31423333 31423333 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 31423333 31423333 C A SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known missense c.710 p.C237F 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC ENSG00000214711 75 10 11.76 95 0 0.00 CAPN14 440854 genome.wustl.edu 37 2 31423341 31423341 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 31423341 31423341 G C SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known silent c.702 p.L234 0.995 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC ENSG00000214711 45 31 40.26 57 0 0.00 CAPN14 440854 genome.wustl.edu 37 2 31428146 31428146 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 31428146 31428146 G A SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known silent c.168 p.I56 0.879 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC ENSG00000214711 36 5 12.20 32 0 0.00 CAPN2 824 genome.wustl.edu 37 1 223947151 223947151 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 223947151 223947151 C T SNP CAPN2 ENST00000295006 human ensembl 70_37 +1 known silent c.1497 p.I499 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 12 8 40.00 24 0 0.00 CAPN2 824 genome.wustl.edu 37 1 223957629 223957629 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 223957629 223957629 C T SNP CAPN2 ENST00000474026 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CAPN2 HGNC ENSG00000162909 5 6 54.55 35 0 0.00 CAPN3 825 genome.wustl.edu 37 15 42676699 42676699 + Nonsense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 42676699 42676699 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known nonsense c.328 p.R110* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 41 18 30.00 49 0 0.00 CAPN3 825 genome.wustl.edu 37 15 42678418 42678418 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42678418 42678418 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.433 p.L145F 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 53 20 27.40 51 0 0.00 CAPN3 825 genome.wustl.edu 37 15 42680062 42680062 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 42680062 42680062 C G SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.610 p.L204V 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 93 26 21.67 149 0 0.00 CAPN3 825 genome.wustl.edu 37 15 42684915 42684915 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42684915 42684915 G C SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.1024 p.D342H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 38 14 26.92 78 0 0.00 CAPN3 825 genome.wustl.edu 37 15 42695076 42695076 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 42695076 42695076 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.1621 p.R541W 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 38 13 25.49 49 0 0.00 CAPN6 827 genome.wustl.edu 37 X 110491187 110491187 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 110491187 110491187 G A SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.1518 p.C506 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 21 14 40.00 47 0 0.00 CAPN6 827 genome.wustl.edu 37 X 110494281 110494281 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 110494281 110494281 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known missense c.1022 p.R341H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 50 28 35.90 64 0 0.00 CAPN6 827 genome.wustl.edu 37 X 110494902 110494902 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 110494902 110494902 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known missense c.768 p.M256I 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 35 11 23.91 35 0 0.00 CAPN6 827 genome.wustl.edu 37 X 110496436 110496436 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 110496436 110496436 G A SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.306 p.P102 0.501 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 25 15 37.50 35 0 0.00 CAPN6 827 genome.wustl.edu 37 X 110497608 110497608 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 110497608 110497608 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.189 p.L63 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 173 49 22.07 221 0 0.00 CAPN8 388743 genome.wustl.edu 37 1 223717507 223717507 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 223717507 223717507 G A SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known silent c.1885 p.L629 0.004 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 26 8 23.53 38 0 0.00 CAPN8 388743 genome.wustl.edu 37 1 223803797 223803797 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 223803797 223803797 C T SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.1183 p.E395K 0.994 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 39 13 25.00 45 0 0.00 CAPN8 388743 genome.wustl.edu 37 1 223815838 223815838 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 223815838 223815838 G T SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.433 p.Q145K 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 31 4 11.43 39 0 0.00 CAPN8 388743 genome.wustl.edu 37 1 223842059 223842059 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 223842059 223842059 G C SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.280 p.R94G 0.989 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 31 53 62.35 45 0 0.00 CAPN8 388743 genome.wustl.edu 37 1 223842102 223842102 + Splice_Site SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 223842102 223842102 C G SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known splice_site c.238-1 e2-1 1.000 - - - no_errors CAPN8 HGNC ENSG00000203697 24 25 51.02 49 0 0.00 CAPN9 10753 genome.wustl.edu 37 1 230883277 230883277 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 230883277 230883277 C A SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.35 p.A12E 0.001 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC ENSG00000135773 99 12 10.81 54 0 0.00 CAPN9 10753 genome.wustl.edu 37 1 230903363 230903363 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 230903363 230903363 G A SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC ENSG00000135773 37 17 30.91 55 0 0.00 CAPN9 10753 genome.wustl.edu 37 1 230921753 230921753 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 230921753 230921753 A C SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.1508 p.D503A 0.933 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC ENSG00000135773 111 26 18.98 118 0 0.00 CAPNS1 826 genome.wustl.edu 37 19 36640737 36640737 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 36640737 36640737 C T SNP CAPNS1 ENST00000588780 human ensembl 70_37 +1 known missense c.833 p.S278F 1.000 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors CAPNS1 HGNC ENSG00000126247 78 15 16.13 102 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34074229 34074229 + RNA SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 34074229 34074229 C G SNP CAPRIN1 ENST00000526477 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CAPRIN1 HGNC ENSG00000135387 15 5 25.00 19 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34097786 34097786 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 34097786 34097786 C G SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.370 p.Q124E 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 23 12 34.29 32 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34097834 34097834 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34097834 34097834 G C SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.418 p.E140Q 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 50 19 27.54 44 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34101277 34101277 + Nonsense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 34101277 34101277 C G SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known nonsense c.791 p.S264* 0.993 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 49 23 31.51 80 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34117896 34117896 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 34117896 34117896 C T SNP CAPRIN1 ENST00000533562 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CAPRIN1 HGNC ENSG00000135387 13 7 35.00 15 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34119297 34119297 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34119297 34119297 G A SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.2054 p.G685E 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 16 21 56.76 39 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34120902 34120902 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 34120902 34120902 G A SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known silent c.2118 p.Q706 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 20 8 28.57 41 0 0.00 CAPRIN1 4076 genome.wustl.edu 37 11 34121474 34121474 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 34121474 34121474 C T SNP CAPRIN1 ENST00000533657 human ensembl 70_37 +1 known rna NULL NULL 0.956 - - - no_errors CAPRIN1 HGNC ENSG00000135387 39 7 15.22 20 0 0.00 CAPRIN2 65981 genome.wustl.edu 37 12 30863277 30863277 + Silent SNP T T A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 30863277 30863277 T A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.2943 p.A981 0.972 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 24 13 35.14 64 0 0.00 CAPRIN2 65981 genome.wustl.edu 37 12 30881633 30881633 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 30881633 30881633 G A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1731 p.L577 0.685 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 116 13 10.08 95 0 0.00 CAPRIN2 65981 genome.wustl.edu 37 12 30881672 30881672 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 30881672 30881672 C T SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1692 p.Q564 0.594 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 96 30 23.81 113 0 0.00 CAPRIN2 65981 genome.wustl.edu 37 12 30882050 30882050 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 30882050 30882050 G A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1314 p.S438 0.598 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 26 13 33.33 50 0 0.00 CAPRIN2 65981 genome.wustl.edu 37 12 30887963 30887963 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 30887963 30887963 C G SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 41 15 26.79 69 0 0.00 CAPS 828 genome.wustl.edu 37 19 5914203 5914203 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5914203 5914203 C G SNP CAPS ENST00000588776 human ensembl 70_37 +1 putative nonsense c.119 p.S40* 0.021 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS HGNC ENSG00000105519 25 9 26.47 31 0 0.00 CAPS 828 genome.wustl.edu 37 19 5914740 5914740 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 5914740 5914740 C T SNP CAPS ENST00000222125 human ensembl 70_37 +1 known missense c.250 p.R84W 0.124 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS HGNC ENSG00000105519 39 5 11.36 41 0 0.00 CAPS2 84698 genome.wustl.edu 37 12 75678767 75678767 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 75678767 75678767 C G SNP CAPS2 ENST00000409445 human ensembl 70_37 -1 known missense c.1546 p.E516Q 1.000 pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS2 HGNC ENSG00000180881 21 11 34.38 37 0 0.00 CAPS2 84698 genome.wustl.edu 37 12 75765017 75765017 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 75765017 75765017 C T SNP CAPS2 ENST00000486196 human ensembl 70_37 -1 putative rna NULL NULL 0.011 - - - no_errors CAPS2 HGNC ENSG00000180881 44 22 33.33 37 0 0.00 CAPSL 133690 genome.wustl.edu 37 5 35921161 35921161 + Missense_Mutation SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 5 35921161 35921161 G A SNP CAPSL ENST00000397366 human ensembl 70_37 -1 known missense c.62 p.T21M 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CAPSL HGNC ENSG00000152611 108 22 16.92 41 0 0.00 CAPZA1 829 genome.wustl.edu 37 1 113189878 113189878 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 113189878 113189878 T G SNP CAPZA1 ENST00000263168 human ensembl 70_37 +1 known missense c.86 p.F29C 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA1 HGNC ENSG00000116489 34 12 26.09 40 0 0.00 CAPZA2 830 genome.wustl.edu 37 7 116528223 116528223 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 116528223 116528223 G T SNP CAPZA2 ENST00000361183 human ensembl 70_37 +1 known nonsense c.82 p.E28* 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA2 HGNC ENSG00000198898 24 28 53.85 72 0 0.00 CAPZA2 830 genome.wustl.edu 37 7 116544251 116544251 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 116544251 116544251 C T SNP CAPZA2 ENST00000361183 human ensembl 70_37 +1 known silent c.240 p.G80 0.855 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA2 HGNC ENSG00000198898 12 4 25.00 25 0 0.00 CAPZA3 93661 genome.wustl.edu 37 12 18891478 18891478 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 18891478 18891478 C A SNP CAPZA3 ENST00000317658 human ensembl 70_37 +1 known missense c.276 p.F92L 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA3 HGNC ENSG00000177938 34 6 14.63 37 0 0.00 CAPZA3 93661 genome.wustl.edu 37 12 18891779 18891779 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 18891779 18891779 G T SNP CAPZA3 ENST00000317658 human ensembl 70_37 +1 known missense c.577 p.A193S 1.000 pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA3 HGNC ENSG00000177938 33 4 10.81 19 0 0.00 CAPZB 832 genome.wustl.edu 37 1 19683230 19683230 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 19683230 19683230 G A SNP CAPZB ENST00000433834 human ensembl 70_37 -1 known missense c.574 p.R192C 0.998 pfam_WASH_F-actin_cap_beta pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta - no_errors CAPZB HGNC ENSG00000077549 19 25 56.82 37 0 0.00 CARD10 29775 genome.wustl.edu 37 22 37891921 37891921 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 37891921 37891921 C T SNP CARD10 ENST00000251973 human ensembl 70_37 -1 known missense c.2149 p.E717K 0.992 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 31 14 31.11 49 0 0.00 CARD10 29775 genome.wustl.edu 37 22 37898696 37898696 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37898696 37898696 G A SNP CARD10 ENST00000251973 human ensembl 70_37 -1 known missense c.1700 p.S567F 0.996 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 34 12 26.09 39 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2952970 2952970 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 2952970 2952970 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.2970 p.Q990 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 6 5 45.45 13 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2952970 2952970 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 2952970 2952970 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.2970 p.Q990 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 76 43 36.13 81 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2962373 2962373 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 2962373 2962373 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.2164 p.E722K 0.961 superfamily_PDZ pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 56 12 17.65 36 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2963931 2963931 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 2963931 2963931 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.1876 p.E626K 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 49 29 37.18 108 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2972191 2972191 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 2972191 2972191 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.1548 p.L516 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 13 7 35.00 24 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2974166 2974166 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 2974166 2974166 G A SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.1439 p.S480L 0.991 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 46 32 41.03 61 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2979475 2979475 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 2979475 2979475 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.772 p.E258K 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 52 26 33.33 73 0 0.00 CARD11 84433 genome.wustl.edu 37 7 2979539 2979539 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 2979539 2979539 C G SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.708 p.L236F 0.999 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 55 8 12.70 44 0 0.00 CARD14 79092 genome.wustl.edu 37 17 78166351 78166351 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 78166351 78166351 G C SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known missense c.1289 p.R430P 0.998 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 38 15 28.30 73 0 0.00 CARD14 79092 genome.wustl.edu 37 17 78176112 78176112 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 78176112 78176112 C T SNP CARD14 ENST00000392434 human ensembl 70_37 +1 known missense c.1274 p.T425M 0.511 NULL superfamily_PDZ - no_errors CARD14 HGNC ENSG00000141527 49 8 14.04 49 0 0.00 CARD14 79092 genome.wustl.edu 37 17 78177625 78177625 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78177625 78177625 C T SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known nonsense c.2224 p.Q742* 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 10 25 71.43 54 0 0.00 CARD14 79092 genome.wustl.edu 37 17 78177634 78177634 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78177634 78177634 C G SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known missense c.2233 p.L745V 0.995 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 10 23 69.70 55 0 0.00 CARD6 84674 genome.wustl.edu 37 5 40843632 40843632 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 40843632 40843632 C T SNP CARD6 ENST00000254691 human ensembl 70_37 +1 known missense c.662 p.P221L 0.016 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 47 13 21.67 50 0 0.00 CARD6 84674 genome.wustl.edu 37 5 40853884 40853884 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 40853884 40853884 G A SNP CARD6 ENST00000254691 human ensembl 70_37 +1 known missense c.2450 p.R817K 0.053 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 13 9 40.91 21 0 0.00 CARD8 22900 genome.wustl.edu 37 19 48685630 48685631 + RNA INS - - A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 48685630 48685631 - A INS CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CARD8 HGNC ENSG00000105483 10 4 28.57 12 0 0.00 CARD8 22900 genome.wustl.edu 37 19 48685630 48685631 + RNA INS - - AA TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 48685630 48685631 - AA INS CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CARD8 HGNC ENSG00000105483 35 7 16.67 9 0 0.00 CARD8 22900 genome.wustl.edu 37 19 48689853 48689853 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 48689853 48689853 C T SNP CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors CARD8 HGNC ENSG00000105483 118 22 15.71 110 0 0.00 CARD9 64170 genome.wustl.edu 37 9 139264763 139264763 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139264763 139264763 C T SNP CARD9 ENST00000371732 human ensembl 70_37 -1 known missense c.934 p.E312K 0.999 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 16 12 42.86 33 0 0.00 CARKD 55739 genome.wustl.edu 37 13 111286919 111286919 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 111286919 111286919 G T SNP CARKD ENST00000309957 human ensembl 70_37 +1 known missense c.523 p.D175Y 0.996 pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 105 19 15.32 144 0 0.00 CARM1 10498 genome.wustl.edu 37 19 11015736 11015736 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 11015736 11015736 G C SNP CARM1 ENST00000327064 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 pfam_Histone-Arg_MeTrfase_N pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 44 17 27.87 72 0 0.00 CARM1P1 100130873 genome.wustl.edu 37 9 2921851 2921851 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 2921851 2921851 C G SNP CARM1P1 ENST00000497195 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CARM1P1 HGNC ENSG00000227835 41 10 19.61 56 0 0.00 CARNS1 57571 genome.wustl.edu 37 11 67186395 67186395 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 67186395 67186395 G T SNP CARNS1 ENST00000445895 human ensembl 70_37 +1 known missense c.533 p.G178V 0.904 NULL superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 10 3 23.08 10 0 0.00 CARS 833 genome.wustl.edu 37 11 3023800 3023800 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 3023800 3023800 C G SNP CARS ENST00000380525 human ensembl 70_37 -1 known missense c.2248 p.E750Q 1.000 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 125 49 28.00 154 0 0.00 CARS 833 genome.wustl.edu 37 11 3038339 3038339 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 3038339 3038339 C T SNP CARS ENST00000380525 human ensembl 70_37 -1 known silent c.1914 p.L638 0.973 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 12 8 40.00 32 0 0.00 CARS 833 genome.wustl.edu 37 11 3050644 3050644 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3050644 3050644 G C SNP CARS ENST00000380525 human ensembl 70_37 -1 known silent c.831 p.L277 0.541 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 18 15 45.45 32 0 0.00 CARS2 79587 genome.wustl.edu 37 13 111299498 111299498 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111299498 111299498 C T SNP CARS2 ENST00000257347 human ensembl 70_37 -1 known missense c.1143 p.M381I 0.975 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 46 15 24.59 64 0 0.00 CASC2 255082 genome.wustl.edu 37 10 119814768 119814768 + RNA SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 119814768 119814768 G C SNP CASC2 ENST00000426021 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CASC2 HGNC ENSG00000177640 48 8 14.29 30 0 0.00 CASC3 22794 genome.wustl.edu 37 17 38318312 38318312 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38318312 38318312 G A SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known missense c.514 p.D172N 1.000 pfam_Btz_dom pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 19 13 40.62 30 0 0.00 CASC3 22794 genome.wustl.edu 37 17 38324110 38324110 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 38324110 38324110 C T SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known silent c.1659 p.F553 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 112 28 20.00 115 1 0.86 CASC3 22794 genome.wustl.edu 37 17 38324645 38324645 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 38324645 38324645 C G SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known missense c.1940 p.P647R 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 20 9 31.03 55 0 0.00 CASC5 57082 genome.wustl.edu 37 15 40914824 40914824 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 40914824 40914824 G A SNP CASC5 ENST00000346991 human ensembl 70_37 +1 known missense c.2440 p.E814K 0.894 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 41 5 10.87 53 0 0.00 CASC5 57082 genome.wustl.edu 37 15 40933224 40933224 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 40933224 40933224 G C SNP CASC5 ENST00000346991 human ensembl 70_37 +1 known missense c.5875 p.E1959Q 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 35 17 32.69 47 0 0.00 CASD1 64921 genome.wustl.edu 37 7 94139496 94139496 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 94139496 94139496 G T SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.100 p.A34S 0.481 superfamily_Cyclin-like pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 22 7 24.14 15 0 0.00 CASD1 64921 genome.wustl.edu 37 7 94166900 94166900 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 94166900 94166900 C T SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known silent c.960 p.F320 0.681 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 33 23 41.07 42 0 0.00 CASD1 64921 genome.wustl.edu 37 7 94167172 94167172 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 94167172 94167172 T C SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.1232 p.V411A 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 46 11 19.30 50 0 0.00 CASD1 64921 genome.wustl.edu 37 7 94174995 94174995 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 94174995 94174995 A C SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.1615 p.I539L 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 34 18 34.62 70 0 0.00 CASD1 64921 genome.wustl.edu 37 7 94180766 94180766 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 94180766 94180766 G T SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.1932 p.L644F 0.972 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 26 3 10.34 98 0 0.00 CASK 8573 genome.wustl.edu 37 X 41390272 41390272 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41390272 41390272 G A SNP CASK ENST00000378163 human ensembl 70_37 -1 known silent c.2508 p.D836 0.545 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 61 17 21.79 67 0 0.00 CASK 8573 genome.wustl.edu 37 X 41401971 41401971 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 41401971 41401971 C G SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.2128 p.D710H 1.000 superfamily_SH3_domain pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 36 12 25.00 45 0 0.00 CASK 8573 genome.wustl.edu 37 X 41416352 41416352 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 41416352 41416352 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.1739 p.R580K 1.000 superfamily_SH3_domain,superfamily_PDZ pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 77 18 18.95 51 0 0.00 CASK 8573 genome.wustl.edu 37 X 41419101 41419101 + Splice_Site SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 41419101 41419101 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known splice_site c.1669-1 e18-1 1.000 - - - no_errors CASK HGNC ENSG00000147044 81 40 33.06 44 0 0.00 CASK 8573 genome.wustl.edu 37 X 41481887 41481887 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 41481887 41481887 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.1016 p.G339E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 42 7 14.29 30 0 0.00 CASK 8573 genome.wustl.edu 37 X 41524688 41524688 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 41524688 41524688 G A SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.550 p.H184Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 18 11 37.93 17 0 0.00 CASK-AS1 100873928 genome.wustl.edu 37 X 41379397 41379397 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41379397 41379397 A C SNP CASK-AS1 ENST00000451126 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CASK-AS1 HGNC ENSG00000233033 27 4 12.90 37 0 0.00 CASKIN1 57524 genome.wustl.edu 37 16 2236729 2236729 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2236729 2236729 C T SNP CASKIN1 ENST00000343516 human ensembl 70_37 -1 known missense c.1027 p.E343K 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN1 HGNC ENSG00000167971 81 21 20.59 104 0 0.00 CASKIN1 57524 genome.wustl.edu 37 16 2239141 2239141 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2239141 2239141 G A SNP CASKIN1 ENST00000343516 human ensembl 70_37 -1 known silent c.504 p.L168 0.984 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN1 HGNC ENSG00000167971 61 19 23.75 58 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73497691 73497691 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 73497691 73497691 G A SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.3376 p.R1126C 0.999 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 45 7 13.21 48 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73498214 73498214 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73498214 73498214 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.2941 p.D981N 0.752 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 27 10 27.03 52 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73498414 73498414 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73498414 73498414 G C SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known nonsense c.2741 p.S914* 0.003 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 13 12 48.00 12 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73498651 73498651 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 73498651 73498651 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.2504 p.R835H 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 15 24 61.54 40 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73499965 73499965 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73499965 73499965 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.1546 p.D516N 0.998 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 21 14 40.00 39 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73501032 73501032 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 73501032 73501032 G A SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known silent c.1053 p.I351 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 19 6 24.00 23 0 0.00 CASKIN2 57513 genome.wustl.edu 37 17 73501101 73501101 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73501101 73501101 C G SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.984 p.Q328H 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 4 4 50.00 10 0 0.00 CASP1 834 genome.wustl.edu 37 11 104899968 104899968 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 104899968 104899968 C G SNP CASP1 ENST00000436863 human ensembl 70_37 -1 known missense c.889 p.D297H 0.018 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP1 HGNC ENSG00000137752 51 13 20.31 56 0 0.00 CASP10 843 genome.wustl.edu 37 2 202060612 202060612 + Missense_Mutation SNP C C G TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 202060612 202060612 C G SNP CASP10 ENST00000286186 human ensembl 70_37 +1 known missense c.625 p.Q209E 0.001 NULL pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP10 HGNC ENSG00000003400 9 13 59.09 29 0 0.00 CASP10 843 genome.wustl.edu 37 2 202074061 202074061 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 202074061 202074061 C T SNP CASP10 ENST00000286186 human ensembl 70_37 +1 known silent c.1191 p.F397 0.959 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP10 HGNC ENSG00000003400 74 18 19.57 61 0 0.00 CASP14 23581 genome.wustl.edu 37 19 15164574 15164574 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15164574 15164574 C A SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.208 p.Q70K 0.585 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP14 HGNC ENSG00000105141 23 7 23.33 34 0 0.00 CASP14 23581 genome.wustl.edu 37 19 15164616 15164616 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 15164616 15164616 G A SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.250 p.V84M 0.732 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP14 HGNC ENSG00000105141 36 15 29.41 57 0 0.00 CASP14 23581 genome.wustl.edu 37 19 15164631 15164631 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15164631 15164631 C T SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.265 p.H89Y 0.642 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP14 HGNC ENSG00000105141 25 17 40.48 40 0 0.00 CASP16 197350 genome.wustl.edu 37 16 3194554 3194554 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 3194554 3194554 G A SNP CASP16 ENST00000571356 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CASP16 HGNC ENSG00000228146 30 18 37.50 56 0 0.00 CASP16 197350 genome.wustl.edu 37 16 3197904 3197904 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3197904 3197904 C T SNP CASP16 ENST00000428155 human ensembl 70_37 +1 known silent c.243 p.I81 0.967 pfam_Pept_C14_cat,smart_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC ENSG00000228146 36 11 23.40 44 0 0.00 CASP16 197350 genome.wustl.edu 37 16 3199714 3199714 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3199714 3199714 G A SNP CASP16 ENST00000428155 human ensembl 70_37 +1 known missense c.457 p.E153K 0.997 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC ENSG00000228146 18 29 61.70 43 0 0.00 CASP2 835 genome.wustl.edu 37 7 142985551 142985552 + Frame_Shift_Ins INS - - GCGGC TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 142985551 142985552 - GCGGC INS CASP2 ENST00000310447 human ensembl 70_37 +1 known frame_shift_ins c.3_4 p.P3fs 1.000:1.000 NULL pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC ENSG00000106144 100 26 20.63 123 0 0.00 CASP2 835 genome.wustl.edu 37 7 142989416 142989416 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 142989416 142989416 G C SNP CASP2 ENST00000310447 human ensembl 70_37 +1 known missense c.249 p.Q83H 0.999 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC ENSG00000106144 65 10 13.33 64 0 0.00 CASP3 836 genome.wustl.edu 37 4 185552278 185552278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 185552278 185552278 C G SNP CASP3 ENST00000308394 human ensembl 70_37 -1 known missense c.517 p.E173Q 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP3 HGNC ENSG00000164305 36 11 23.40 41 0 0.00 CASP5 838 genome.wustl.edu 37 11 104871140 104871140 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 104871140 104871140 T C SNP CASP5 ENST00000393141 human ensembl 70_37 -1 known missense c.839 p.H280R 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC ENSG00000137757 20 59 74.68 97 0 0.00 CASP5 838 genome.wustl.edu 37 11 104878040 104878041 + Frame_Shift_Ins INS - - T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 11 104878040 104878041 - T INS CASP5 ENST00000393141 human ensembl 70_37 -1 known frame_shift_ins c.242_241 p.T81fs 0.000:0.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC ENSG00000137757 26 4 13.33 13 0 0.00 CASP5 838 genome.wustl.edu 37 11 104879737 104879737 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 104879737 104879737 C T SNP CASP5 ENST00000393141 human ensembl 70_37 -1 known missense c.17 p.R6K 0.000 NULL pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC ENSG00000137757 8 11 57.89 15 0 0.00 CASP6 839 genome.wustl.edu 37 4 110615848 110615848 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 110615848 110615848 C T SNP CASP6 ENST00000265164 human ensembl 70_37 -1 known missense c.316 p.V106I 0.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP6 HGNC ENSG00000138794 13 9 40.91 27 0 0.00 CASP6 839 genome.wustl.edu 37 4 110617577 110617577 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 110617577 110617577 T G SNP CASP6 ENST00000265164 human ensembl 70_37 -1 known missense c.296 p.K99T 0.091 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP6 HGNC ENSG00000138794 18 11 37.93 41 0 0.00 CASP7 840 genome.wustl.edu 37 10 115485290 115485290 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 115485290 115485290 C T SNP CASP7 ENST00000369321 human ensembl 70_37 +1 known silent c.645 p.F215 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP7 HGNC ENSG00000165806 21 21 50.00 42 0 0.00 CASP8 841 genome.wustl.edu 37 2 202136248 202136248 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 202136248 202136248 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known silent c.492 p.L164 0.984 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 54 11 16.92 59 0 0.00 CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 202136259 202136259 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.503 p.S168L 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 60 11 15.49 62 0 0.00 CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 202136259 202136259 C G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 26 12 31.58 34 0 0.00 CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 202136259 202136259 C G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 52 11 17.46 101 0 0.00 CASP8 841 genome.wustl.edu 37 2 202137499 202137499 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 202137499 202137499 G C SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.727 p.E243Q 1.000 superfamily_DEATH-like pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 54 38 41.30 94 0 0.00 CASP8 841 genome.wustl.edu 37 2 202149611 202149611 + Missense_Mutation SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 202149611 202149611 T A SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.1052 p.I351N 0.754 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 14 39 73.58 72 0 0.00 CASP8 841 genome.wustl.edu 37 2 202149616 202149616 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 202149616 202149616 G T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1057 p.E353* 0.004 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 8 39 82.98 36 0 0.00 CASP8 841 genome.wustl.edu 37 2 202149751 202149751 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 202149751 202149751 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1192 p.Q398* 0.935 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 44 14 24.14 49 0 0.00 CASP8 841 genome.wustl.edu 37 2 202149755 202149755 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 202149755 202149755 T G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.1196 p.F399C 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 20 28 58.33 27 0 0.00 CASP8 841 genome.wustl.edu 37 2 202150039 202150039 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 202150039 202150039 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1480 p.R494* 0.956 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 25 16 37.21 26 0 0.00 CASP8 841 genome.wustl.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 202151270 202151270 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1570 p.Q524* 0.996 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 15 7 31.82 32 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90572018 90572018 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 90572018 90572018 A C SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CASP8AP2 HGNC ENSG00000118412 9 7 43.75 42 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90576285 90576285 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 90576285 90576285 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors CASP8AP2 HGNC ENSG00000118412 42 18 30.00 53 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90576585 90576585 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 90576585 90576585 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors CASP8AP2 HGNC ENSG00000118412 23 5 17.86 51 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90577366 90577366 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90577366 90577366 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 31 16 34.04 52 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90577846 90577846 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90577846 90577846 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors CASP8AP2 HGNC ENSG00000118412 11 12 52.17 17 0 0.00 CASP8AP2 9994 genome.wustl.edu 37 6 90578203 90578203 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 90578203 90578203 G C SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.131 - - - no_errors CASP8AP2 HGNC ENSG00000118412 8 6 42.86 12 0 0.00 CASP9 842 genome.wustl.edu 37 1 15833504 15833504 + Nonsense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 15833504 15833504 C A SNP CASP9 ENST00000333868 human ensembl 70_37 -1 known nonsense c.520 p.E174* 0.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP9 HGNC ENSG00000132906 18 4 18.18 20 0 0.00 CASQ1 844 genome.wustl.edu 37 1 160171065 160171065 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 160171065 160171065 G A SNP CASQ1 ENST00000368078 human ensembl 70_37 +1 known missense c.1090 p.E364K 0.998 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 62 30 32.61 82 0 0.00 CASQ1 844 genome.wustl.edu 37 1 160171086 160171086 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160171086 160171086 G T SNP CASQ1 ENST00000368078 human ensembl 70_37 +1 known nonsense c.1111 p.E371* 0.981 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 37 7 15.91 23 0 0.00 CASR 846 genome.wustl.edu 37 3 121980728 121980728 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121980728 121980728 G C SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.846 p.E282D 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 85 11 11.46 38 0 0.00 CASR 846 genome.wustl.edu 37 3 121980771 121980771 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121980771 121980771 G A SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.889 p.E297K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 67 9 11.69 38 0 0.00 CASR 846 genome.wustl.edu 37 3 122003100 122003100 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122003100 122003100 G A SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2329 p.E777K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 57 13 18.57 29 0 0.00 CASR 846 genome.wustl.edu 37 3 122003151 122003151 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 122003151 122003151 G T SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2380 p.A794S 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 17 20 54.05 30 0 0.00 CASR 846 genome.wustl.edu 37 3 122003151 122003151 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 122003151 122003151 G T SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2380 p.A794S 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 24 24 50.00 27 0 0.00 CASS4 57091 genome.wustl.edu 37 20 55012265 55012265 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 55012265 55012265 G A SNP CASS4 ENST00000360314 human ensembl 70_37 +1 known missense c.82 p.D28N 0.985 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 27 34 55.74 34 0 0.00 CASS4 57091 genome.wustl.edu 37 20 55027331 55027331 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 55027331 55027331 G C SNP CASS4 ENST00000360314 human ensembl 70_37 +1 known missense c.1099 p.E367Q 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 51 9 15.00 71 0 0.00 CAST 831 genome.wustl.edu 37 5 96066545 96066545 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 96066545 96066545 C T SNP CAST ENST00000395813 human ensembl 70_37 +1 known missense c.611 p.S204F 0.001 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 9 12 57.14 26 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10699179 10699179 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 10699179 10699179 G C SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known missense c.5100 p.D1700E 0.941 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 25 6 19.35 18 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10699536 10699536 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 10699536 10699536 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4743 p.T1581 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 13 10 43.48 17 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10699536 10699536 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 10699536 10699536 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4743 p.T1581 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 36 35 49.30 20 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10699830 10699830 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 10699830 10699830 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4449 p.R1483 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 35 10 21.74 35 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10713654 10713654 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 10713654 10713654 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.2460 p.L820 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 30 5 14.29 15 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10720361 10720361 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 10720361 10720361 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.738 p.L246 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 48 21 30.43 55 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10720517 10720517 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 10720517 10720517 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.582 p.Q194 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 35 5 12.50 45 0 0.00 CASZ1 54897 genome.wustl.edu 37 1 10725312 10725312 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 10725312 10725312 G T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.333 p.R111 0.029 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 26 4 13.33 28 0 0.00 CAT 847 genome.wustl.edu 37 11 34472557 34472557 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 34472557 34472557 C T SNP CAT ENST00000241052 human ensembl 70_37 +1 known silent c.261 p.V87 0.989 pfam_Catalase_core,superfamily_Catalase-like_dom pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 225 64 22.15 341 0 0.00 CAT 847 genome.wustl.edu 37 11 34478296 34478296 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 11 34478296 34478296 G A SNP CAT ENST00000241052 human ensembl 70_37 +1 known missense c.988 p.E330K 1.000 pfam_Catalase_core,superfamily_Catalase-like_dom,prints_Catalase pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 47 23 32.39 61 0 0.00 CAT 847 genome.wustl.edu 37 11 34492396 34492396 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 34492396 34492396 G T SNP CAT ENST00000534710 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors CAT HGNC ENSG00000121691 30 4 11.76 48 0 0.00 CAT 847 genome.wustl.edu 37 11 34492955 34492955 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 34492955 34492955 C T SNP CAT ENST00000241052 human ensembl 70_37 +1 known missense c.1559 p.A520V 0.021 NULL pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 44 18 29.03 75 0 0.00 CATSPER2 117155 genome.wustl.edu 37 15 43928408 43928408 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 43928408 43928408 C T SNP CATSPER2 ENST00000299989 human ensembl 70_37 -1 known silent c.852 p.P284 0.001 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 68 13 16.05 73 0 0.00 CATSPER2 117155 genome.wustl.edu 37 15 43931925 43931925 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 43931925 43931925 G A SNP CATSPER2 ENST00000299989 human ensembl 70_37 -1 known silent c.633 p.I211 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 43 13 23.21 39 0 0.00 CATSPER2P1 440278 genome.wustl.edu 37 15 44020967 44020967 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 44020967 44020967 C G SNP CATSPER2P1 ENST00000446479 human ensembl 70_37 -1 putative rna NULL NULL 0.999 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 56 16 22.22 93 0 0.00 CATSPER2P1 440278 genome.wustl.edu 37 15 44028365 44028365 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44028365 44028365 G A SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 68 28 29.17 88 0 0.00 CATSPER2P1 440278 genome.wustl.edu 37 15 44028625 44028625 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 44028625 44028625 C G SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 9 3 25.00 22 0 0.00 CATSPER2P1 440278 genome.wustl.edu 37 15 44028956 44028956 + RNA SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 44028956 44028956 C T SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 10 10 50.00 27 0 0.00 CATSPER2P1 440278 genome.wustl.edu 37 15 44038951 44038951 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44038951 44038951 G C SNP CATSPER2P1 ENST00000429276 human ensembl 70_37 -1 known rna NULL NULL 0.350 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 13 8 38.10 22 0 0.00 CATSPER4 378807 genome.wustl.edu 37 1 26526400 26526400 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 26526400 26526400 G C SNP CATSPER4 ENST00000456354 human ensembl 70_37 +1 known missense c.838 p.E280Q 0.998 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 27 6 18.18 39 0 0.00 CATSPER4 378807 genome.wustl.edu 37 1 26526467 26526467 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 26526467 26526467 T C SNP CATSPER4 ENST00000456354 human ensembl 70_37 +1 known missense c.905 p.F302S 0.995 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 20 14 41.18 45 0 0.00 CATSPERB 79820 genome.wustl.edu 37 14 92083997 92083997 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92083997 92083997 C G SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.2344 p.D782H 0.996 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 8 4 33.33 13 0 0.00 CATSPERB 79820 genome.wustl.edu 37 14 92102780 92102780 + Silent SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 14 92102780 92102780 C G SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known silent c.1731 p.V577 0.000 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 85 28 24.78 113 0 0.00 CATSPERB 79820 genome.wustl.edu 37 14 92126271 92126271 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92126271 92126271 C T SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.1342 p.D448N 0.000 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 9 7 43.75 21 0 0.00 CATSPERB 79820 genome.wustl.edu 37 14 92185816 92185816 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 92185816 92185816 C T SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.316 p.D106N 0.855 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 28 15 34.88 33 0 0.00 CATSPERD 257062 genome.wustl.edu 37 19 5729891 5729891 + Frame_Shift_Del DEL T T - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 5729891 5729891 T - DEL CATSPERD ENST00000381624 human ensembl 70_37 +1 known frame_shift_del c.212 p.F73fs 0.840 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 185 38 17.04 139 0 0.00 CATSPERD 257062 genome.wustl.edu 37 19 5733954 5733954 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 5733954 5733954 G T SNP CATSPERD ENST00000381624 human ensembl 70_37 +1 known nonsense c.364 p.E122* 0.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 37 9 19.57 45 0 0.00 CATSPERD 257062 genome.wustl.edu 37 19 5751739 5751739 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5751739 5751739 C T SNP CATSPERD ENST00000381624 human ensembl 70_37 +1 known missense c.1069 p.R357C 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 37 8 17.78 46 0 0.00 CATSPERG 57828 genome.wustl.edu 37 19 38855535 38855535 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 38855535 38855535 C T SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known missense c.2480 p.T827M 0.004 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 98 16 14.04 81 0 0.00 CATSPERG 57828 genome.wustl.edu 37 19 38857867 38857867 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38857867 38857867 G A SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known silent c.2685 p.T895 0.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 35 19 35.19 50 0 0.00 CATSPERG 57828 genome.wustl.edu 37 19 38857940 38857940 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38857940 38857940 C G SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known missense c.2758 p.L920V 0.995 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 26 15 36.59 30 0 0.00 CATSPERG 57828 genome.wustl.edu 37 19 38860841 38860841 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 38860841 38860841 C T SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known silent c.3156 p.F1052 0.362 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 20 19 48.72 28 0 0.00 CAV2 858 genome.wustl.edu 37 7 116139970 116139970 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 116139970 116139970 C G SNP CAV2 ENST00000222693 human ensembl 70_37 +1 known silent c.135 p.L45 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV2 HGNC ENSG00000105971 41 9 18.00 33 0 0.00 CAV2 858 genome.wustl.edu 37 7 116140195 116140195 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 116140195 116140195 G C SNP CAV2 ENST00000495841 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CAV2 HGNC ENSG00000105971 11 9 45.00 12 0 0.00 CAV2 858 genome.wustl.edu 37 7 116140326 116140326 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116140326 116140326 G T SNP CAV2 ENST00000222693 human ensembl 70_37 +1 known missense c.163 p.D55Y 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV2 HGNC ENSG00000105971 36 15 29.41 73 0 0.00 CBFA2T2 9139 genome.wustl.edu 37 20 32211658 32211658 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 20 32211658 32211658 C A SNP CBFA2T2 ENST00000397798 human ensembl 70_37 +1 known missense c.712 p.P238T 0.004 NULL pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO - no_errors CBFA2T2 HGNC ENSG00000078699 49 38 43.68 63 0 0.00 CBFA2T2 9139 genome.wustl.edu 37 20 32217720 32217720 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32217720 32217720 G A SNP CBFA2T2 ENST00000346541 human ensembl 70_37 +1 known missense c.1255 p.D419N 1.000 prints_MTGR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 18 9 33.33 13 0 0.00 CBFA2T2 9139 genome.wustl.edu 37 20 32224462 32224462 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 32224462 32224462 C T SNP CBFA2T2 ENST00000346541 human ensembl 70_37 +1 known silent c.1272 p.F424 0.949 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 11 3 21.43 16 0 0.00 CBFA2T3 863 genome.wustl.edu 37 16 88949138 88949138 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 88949138 88949138 G T SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known silent c.1149 p.I383 0.140 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 45 18 28.57 53 0 0.00 CBFA2T3 863 genome.wustl.edu 37 16 88952492 88952492 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 88952492 88952492 G A SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known missense c.770 p.T257M 0.998 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 37 8 17.78 40 0 0.00 CBFA2T3 863 genome.wustl.edu 37 16 88968057 88968057 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88968057 88968057 C T SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known silent c.159 p.V53 0.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 48 28 36.84 62 0 0.00 CBFB 865 genome.wustl.edu 37 16 67100636 67100636 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 67100636 67100636 G A SNP CBFB ENST00000290858 human ensembl 70_37 +1 known missense c.334 p.G112S 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 13 18 58.06 56 0 0.00 CBFB 865 genome.wustl.edu 37 16 67100696 67100696 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67100696 67100696 G T SNP CBFB ENST00000290858 human ensembl 70_37 +1 known missense c.394 p.A132S 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 23 4 14.81 49 0 0.00 CBL 867 genome.wustl.edu 37 11 119149358 119149358 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 119149358 119149358 G A SNP CBL ENST00000264033 human ensembl 70_37 +1 known missense c.1366 p.D456N 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 18 5 21.74 32 0 0.00 CBLB 868 genome.wustl.edu 37 3 105377916 105377916 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 105377916 105377916 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known silent c.2847 p.V949 0.997 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 34 22 38.60 57 0 0.00 CBLB 868 genome.wustl.edu 37 3 105397350 105397350 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 105397350 105397350 G A SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.2494 p.L832F 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 20 36 64.29 34 0 0.00 CBLB 868 genome.wustl.edu 37 3 105400388 105400388 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 105400388 105400388 T C SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.2363 p.N788S 0.957 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 73 16 17.98 44 0 0.00 CBLB 868 genome.wustl.edu 37 3 105420966 105420966 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 105420966 105420966 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.1931 p.R644H 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 32 10 23.81 60 0 0.00 CBLB 868 genome.wustl.edu 37 3 105459466 105459466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 105459466 105459466 G C SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.855 p.F285L 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 54 17 23.94 29 0 0.00 CBLB 868 genome.wustl.edu 37 3 105464807 105464807 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 105464807 105464807 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.799 p.D267N 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 162 105 39.18 194 0 0.00 CBLB 868 genome.wustl.edu 37 3 105464807 105464807 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 105464807 105464807 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.799 p.D267N 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 37 33 47.14 36 0 0.00 CBLC 23624 genome.wustl.edu 37 19 45281228 45281228 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 45281228 45281228 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known missense c.40 p.E14K 0.004 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 17 5 22.73 30 0 0.00 CBLC 23624 genome.wustl.edu 37 19 45295700 45295700 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 45295700 45295700 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known missense c.1066 p.E356K 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 19 9 32.14 22 0 0.00 CBLC 23624 genome.wustl.edu 37 19 45295767 45295767 + Nonsense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 45295767 45295767 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known nonsense c.1133 p.W378* 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 45 33 42.31 18 0 0.00 CBLL1 79872 genome.wustl.edu 37 7 107393876 107393876 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 107393876 107393876 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.202 p.E68Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 48 22 31.43 54 0 0.00 CBLL1 79872 genome.wustl.edu 37 7 107393876 107393876 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 107393876 107393876 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.202 p.E68Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 71 24 25.00 107 0 0.00 CBLL1 79872 genome.wustl.edu 37 7 107398799 107398799 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 107398799 107398799 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.652 p.E218Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 54 29 34.94 50 0 0.00 CBLN1 869 genome.wustl.edu 37 16 49313390 49313390 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 49313390 49313390 G A SNP CBLN1 ENST00000219197 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 24 22 47.83 32 0 0.00 CBLN1 869 genome.wustl.edu 37 16 49313390 49313390 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 49313390 49313390 G A SNP CBLN1 ENST00000219197 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 37 36 49.32 65 0 0.00 CBLN4 140689 genome.wustl.edu 37 20 54573720 54573720 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 20 54573720 54573720 G A SNP CBLN4 ENST00000064571 human ensembl 70_37 -1 known missense c.499 p.L167F 0.721 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 47 67 58.77 62 0 0.00 CBR1 873 genome.wustl.edu 37 21 37443336 37443336 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 21 37443336 37443336 C G SNP CBR1 ENST00000290349 human ensembl 70_37 +1 known silent c.378 p.L126 0.994 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR1 HGNC ENSG00000159228 16 20 55.56 50 0 0.00 CBR3 874 genome.wustl.edu 37 21 37507541 37507541 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 37507541 37507541 C G SNP CBR3 ENST00000290354 human ensembl 70_37 +1 known missense c.51 p.I17M 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 108 22 16.92 80 0 0.00 CBR3-AS1 100506428 genome.wustl.edu 37 21 37504209 37504210 + RNA INS - - AAAT TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 21 37504209 37504210 - AAAT INS CBR3-AS1 ENST00000413862 human ensembl 70_37 -1 known rna NULL NULL 0.997:0.993 - - - no_errors CBR3-AS1 HGNC ENSG00000236830 3 3 50.00 9 0 0.00 CBR4 84869 genome.wustl.edu 37 4 169911336 169911336 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 169911336 169911336 G C SNP CBR4 ENST00000306193 human ensembl 70_37 -1 known missense c.679 p.L227V 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors CBR4 HGNC ENSG00000145439 31 19 38.00 38 0 0.00 CBS 875 genome.wustl.edu 37 21 44488638 44488638 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 21 44488638 44488638 G A SNP CBS ENST00000398168 human ensembl 70_37 -1 known silent c.297 p.F99 0.047 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 77 47 37.90 170 0 0.00 CBS 875 genome.wustl.edu 37 21 44488649 44488649 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 21 44488649 44488649 C A SNP CBS ENST00000398168 human ensembl 70_37 -1 known missense c.286 p.G96W 0.173 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 42 5 10.42 30 0 0.00 CBWD1 55871 genome.wustl.edu 37 9 121487 121487 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 121487 121487 C T SNP CBWD1 ENST00000356521 human ensembl 70_37 -1 known missense c.1168 p.E390K 0.994 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 309 144 31.79 262 0 0.00 CBWD1 55871 genome.wustl.edu 37 9 161591 161591 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 161591 161591 C G SNP CBWD1 ENST00000465014 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CBWD1 HGNC ENSG00000172785 191 74 27.92 224 0 0.00 CBWD1 55871 genome.wustl.edu 37 9 173313 173313 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 173313 173313 C A SNP CBWD1 ENST00000356521 human ensembl 70_37 -1 known nonsense c.295 p.E99* 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 41 32 43.84 72 0 0.00 CBWD2 150472 genome.wustl.edu 37 2 114210748 114210748 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 114210748 114210748 G C SNP CBWD2 ENST00000259199 human ensembl 70_37 +1 known missense c.463 p.E155Q 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD2 HGNC ENSG00000136682 110 58 34.52 101 0 0.00 CBWD3 445571 genome.wustl.edu 37 9 70871863 70871863 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 70871863 70871863 G A SNP CBWD3 ENST00000360171 human ensembl 70_37 +1 known missense c.457 p.D153N 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 125 22 14.97 188 0 0.00 CBWD3 445571 genome.wustl.edu 37 9 70883977 70883977 + RNA SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 70883977 70883977 G C SNP CBWD3 ENST00000469687 human ensembl 70_37 +1 known rna NULL NULL 0.138 - - - no_errors CBWD3 HGNC ENSG00000196873 14 67 81.71 143 0 0.00 CBWD5 220869 genome.wustl.edu 37 9 70490008 70490008 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 70490008 70490008 C G SNP CBWD5 ENST00000382405 human ensembl 70_37 -1 known missense c.61 p.E21Q 0.998 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD5 HGNC ENSG00000147996 50 19 27.54 85 0 0.00 CBX1 10951 genome.wustl.edu 37 17 46148890 46148890 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 46148890 46148890 C T SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known silent c.465 p.K155 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 76 55 41.67 124 0 0.00 CBX1 10951 genome.wustl.edu 37 17 46153372 46153372 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 46153372 46153372 C A SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known missense c.309 p.K103N 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 18 3 14.29 16 0 0.00 CBX1 10951 genome.wustl.edu 37 17 46153539 46153539 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 46153539 46153539 C G SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 51 21 29.17 61 0 0.00 CBX3 11335 genome.wustl.edu 37 7 26242433 26242433 + RNA SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 7 26242433 26242433 C T SNP CBX3 ENST00000497498 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CBX3 HGNC ENSG00000122565 16 13 44.83 33 0 0.00 CBX3 11335 genome.wustl.edu 37 7 26242451 26242451 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 26242451 26242451 G C SNP CBX3 ENST00000497498 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CBX3 HGNC ENSG00000122565 9 4 30.77 17 0 0.00 CBX3 11335 genome.wustl.edu 37 7 26248030 26248030 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 26248030 26248030 A C SNP CBX3 ENST00000337620 human ensembl 70_37 +1 known missense c.185 p.E62A 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 17 12 41.38 33 0 0.00 CBX4 8535 genome.wustl.edu 37 17 77807985 77807985 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 77807985 77807985 C T SNP CBX4 ENST00000269397 human ensembl 70_37 -1 known missense c.1456 p.E486K 0.257 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 18 7 28.00 42 0 0.00 CBX4 8535 genome.wustl.edu 37 17 77808441 77808441 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 77808441 77808441 C T SNP CBX4 ENST00000269397 human ensembl 70_37 -1 known missense c.1000 p.G334R 0.004 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 10 4 28.57 25 0 0.00 CBX6 23466 genome.wustl.edu 37 22 39262280 39262280 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 39262280 39262280 G A SNP CBX6 ENST00000407418 human ensembl 70_37 -1 known silent c.1173 p.F391 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 11 16 59.26 19 0 0.00 CBX7 23492 genome.wustl.edu 37 22 39530549 39530549 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 39530549 39530549 G A SNP CBX7 ENST00000216133 human ensembl 70_37 -1 known missense c.455 p.S152L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC ENSG00000100307 12 9 42.86 24 0 0.00 CBX8 57332 genome.wustl.edu 37 17 77768758 77768758 + Frame_Shift_Del DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 17 77768758 77768758 G - DEL CBX8 ENST00000269385 human ensembl 70_37 -1 known frame_shift_del c.846 p.R283fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 14 2 12.50 49 0 0.00 CC2D1A 54862 genome.wustl.edu 37 19 14024066 14024066 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14024066 14024066 G T SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.464 p.R155I 0.983 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 58 17 22.67 76 0 0.00 CC2D1A 54862 genome.wustl.edu 37 19 14024406 14024406 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14024406 14024406 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.703 p.A235T 0.016 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 98 18 15.52 87 0 0.00 CC2D1A 54862 genome.wustl.edu 37 19 14040251 14040251 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 14040251 14040251 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.2579 p.R860Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 56 10 15.15 49 0 0.00 CC2D1A 54862 genome.wustl.edu 37 19 14041055 14041055 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 14041055 14041055 G A SNP CC2D1A ENST00000318003 human ensembl 70_37 +1 known missense c.2788 p.D930N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 107 30 21.90 180 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52818973 52818976 + RNA DEL AGAT AGAT - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 52818973 52818976 AGAT - DEL CC2D1B ENST00000460261 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000:0.000:0.000 - - - no_errors CC2D1B HGNC ENSG00000154222 8 3 27.27 15 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52821305 52821305 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 52821305 52821305 C T SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.2180 p.R727Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 21 15 41.67 69 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52822066 52822066 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52822066 52822066 C G SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.1945 p.E649Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 35 15 30.00 67 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52822821 52822821 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 52822821 52822821 C T SNP CC2D1B ENST00000460261 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CC2D1B HGNC ENSG00000154222 59 10 14.49 60 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52825770 52825770 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 52825770 52825770 G C SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.739 p.P247A 0.106 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 30 5 14.29 34 0 0.00 CC2D1B 200014 genome.wustl.edu 37 1 52826441 52826441 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52826441 52826441 G - DEL CC2D1B ENST00000491136 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CC2D1B HGNC ENSG00000154222 3 3 50.00 12 0 0.00 CC2D2A 57545 genome.wustl.edu 37 4 15482423 15482423 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 15482423 15482423 G A SNP CC2D2A ENST00000438599 human ensembl 70_37 +1 known missense c.325 p.E109K 0.523 NULL NULL - no_errors CC2D2A HGNC ENSG00000048342 13 8 38.10 19 0 0.00 CC2D2A 57545 genome.wustl.edu 37 4 15482840 15482840 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 15482840 15482840 G C SNP CC2D2A ENST00000507954 human ensembl 70_37 +1 putative missense c.267 p.K89N 0.077 NULL NULL - no_errors CC2D2A HGNC ENSG00000048342 8 14 63.64 20 0 0.00 CC2D2A 57545 genome.wustl.edu 37 4 15575827 15575827 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15575827 15575827 G C SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known missense c.3649 p.E1217Q 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 24 16 40.00 38 0 0.00 CC2D2A 57545 genome.wustl.edu 37 4 15581639 15581639 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15581639 15581639 C G SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known missense c.3820 p.Q1274E 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 67 27 28.72 60 0 0.00 CC2D2A 57545 genome.wustl.edu 37 4 15597793 15597793 + Nonsense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 15597793 15597793 C G SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known nonsense c.4400 p.S1467* 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 25 7 21.88 25 0 0.00 CC2D2B 387707 genome.wustl.edu 37 10 97752348 97752348 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 97752348 97752348 G C SNP CC2D2B ENST00000475252 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CC2D2B HGNC ENSG00000188649 21 10 32.26 44 0 0.00 CC2D2B 387707 genome.wustl.edu 37 10 97752362 97752362 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97752362 97752362 C T SNP CC2D2B ENST00000475252 human ensembl 70_37 +1 known rna NULL NULL 0.758 - - - no_errors CC2D2B HGNC ENSG00000188649 46 20 30.30 59 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70507287 70507287 + Nonsense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 70507287 70507287 C T SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known nonsense c.790 p.Q264* 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 40 28 41.18 61 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70531119 70531119 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 70531119 70531119 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2455 p.D819N 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 10 5 33.33 28 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70531125 70531125 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 70531125 70531125 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2461 p.E821K 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 11 7 38.89 29 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70532748 70532748 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 70532748 70532748 G C SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2542 p.E848Q 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 26 10 27.78 35 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70546378 70546378 + Missense_Mutation SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 70546378 70546378 T C SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2809 p.C937R 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 24 13 35.14 21 0 0.00 CCAR1 55749 genome.wustl.edu 37 10 70547683 70547683 + Splice_Site SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 70547683 70547683 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known splice_site c.2881-1 e21-1 1.000 - - - no_errors CCAR1 HGNC ENSG00000060339 64 25 28.09 95 0 0.00 CCBE1 147372 genome.wustl.edu 37 18 57106986 57106986 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 18 57106986 57106986 C T SNP CCBE1 ENST00000439986 human ensembl 70_37 -1 known missense c.838 p.G280S 0.999 pfam_Collagen pfam_Collagen,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors CCBE1 HGNC ENSG00000183287 37 10 21.28 62 0 0.00 CCBL1 883 genome.wustl.edu 37 9 131607662 131607662 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 131607662 131607662 C T SNP CCBL1 ENST00000436267 human ensembl 70_37 -1 known missense c.305 p.R102Q 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL1 HGNC ENSG00000171097 37 6 13.95 42 0 0.00 CCBL2 56267 genome.wustl.edu 37 1 89408752 89408752 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 89408752 89408752 G A SNP CCBL2 ENST00000260508 human ensembl 70_37 -1 known missense c.1238 p.S413L 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL2 HGNC ENSG00000137944 167 38 18.54 233 1 0.43 CCBL2 56267 genome.wustl.edu 37 1 89430628 89430628 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 89430628 89430628 G A SNP CCBL2 ENST00000260508 human ensembl 70_37 -1 known silent c.337 p.L113 0.980 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL2 HGNC ENSG00000137944 44 18 29.03 49 0 0.00 ACKR2 1238 genome.wustl.edu 37 3 42906204 42906204 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 42906204 42906204 C A SNP CCBP2 ENST00000273145 human ensembl 70_37 +1 known silent c.210 p.V70 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors CCBP2 HGNC ENSG00000144648 22 4 15.38 25 0 0.00 ACKR2 1238 genome.wustl.edu 37 3 42906932 42906932 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 42906932 42906932 C T SNP CCBP2 ENST00000273145 human ensembl 70_37 +1 known missense c.938 p.A313V 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors CCBP2 HGNC ENSG00000144648 17 3 15.00 26 0 0.00 CCDC101 112869 genome.wustl.edu 37 16 28597034 28597034 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 28597034 28597034 G A SNP CCDC101 ENST00000317058 human ensembl 70_37 +1 known missense c.217 p.E73K 0.999 NULL pfam_SGF29_tudor-like_dom - no_errors CCDC101 HGNC ENSG00000176476 27 8 22.86 48 0 0.00 CCDC104 112942 genome.wustl.edu 37 2 55762944 55762944 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 55762944 55762944 C T SNP CCDC104 ENST00000403007 human ensembl 70_37 +1 putative silent c.582 p.L194 0.009 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 20 6 23.08 22 0 0.00 CCDC105 126402 genome.wustl.edu 37 19 15132457 15132457 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 15132457 15132457 G A SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1071 p.M357I 0.970 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 42 16 27.59 73 0 0.00 CCDC105 126402 genome.wustl.edu 37 19 15132520 15132520 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15132520 15132520 C G SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1134 p.I378M 0.996 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 33 7 17.50 31 0 0.00 CCDC105 126402 genome.wustl.edu 37 19 15132520 15132520 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15132520 15132520 C G SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1134 p.I378M 0.996 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 50 10 16.67 71 0 0.00 CCDC106 29903 genome.wustl.edu 37 19 56160930 56160930 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 56160930 56160930 C T SNP CCDC106 ENST00000308964 human ensembl 70_37 +1 known missense c.293 p.S98F 1.000 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 85 23 21.30 92 0 0.00 CCDC107 203260 genome.wustl.edu 37 9 35658621 35658621 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 35658621 35658621 C A SNP CCDC107 ENST00000426546 human ensembl 70_37 +1 known missense c.155 p.P52Q 0.141 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 13 7 35.00 12 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219868819 219868819 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 219868819 219868819 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5410 p.E1804K 0.044 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 12 6 33.33 38 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219868903 219868903 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 219868903 219868903 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5326 p.E1776K 0.299 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 20 15 42.86 49 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219868909 219868909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219868909 219868909 C G SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5320 p.E1774Q 0.125 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 78 24 23.53 110 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219868921 219868921 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 219868921 219868921 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5308 p.E1770K 0.331 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 21 19 47.50 64 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219870775 219870775 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 219870775 219870775 G C SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.4890 p.F1630L 1.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 16 5 23.81 22 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219875665 219875665 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 219875665 219875665 G A SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known silent c.4011 p.T1337 0.171 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 35 14 28.57 28 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219892628 219892628 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 219892628 219892628 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.1955 p.S652N 0.890 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 49 23 31.94 54 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219894307 219894307 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 219894307 219894307 C G SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.1468 p.E490Q 0.881 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 51 16 23.88 81 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219897276 219897276 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 219897276 219897276 G A SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known silent c.561 p.F187 1.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 42 9 17.65 39 0 0.00 CCDC108 255101 genome.wustl.edu 37 2 219900337 219900337 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219900337 219900337 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.407 p.R136K 0.108 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 72 39 35.14 122 0 0.00 CCDC109B 55013 genome.wustl.edu 37 4 110585445 110585445 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 110585445 110585445 G C SNP CCDC109B ENST00000394650 human ensembl 70_37 +1 known splice_site c.347-1 e4-1 1.000 - - - no_errors CCDC109B HGNC ENSG00000005059 26 12 31.58 58 0 0.00 CCDC11 220136 genome.wustl.edu 37 18 47753821 47753821 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 18 47753821 47753821 G T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known missense c.1475 p.S492Y 0.000 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 34 4 10.53 56 0 0.00 CCDC11 220136 genome.wustl.edu 37 18 47753901 47753901 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 47753901 47753901 C T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.1395 p.E465 0.636 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 146 24 14.12 109 0 0.00 CCDC11 220136 genome.wustl.edu 37 18 47769346 47769346 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 47769346 47769346 C T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.1137 p.L379 0.925 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 22 16 42.11 38 0 0.00 CCDC11 220136 genome.wustl.edu 37 18 47792730 47792730 + Silent SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 47792730 47792730 G T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.45 p.G15 0.996 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 32 4 11.11 43 0 0.00 CCDC110 256309 genome.wustl.edu 37 4 186379879 186379879 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 186379879 186379879 C G SNP CCDC110 ENST00000307588 human ensembl 70_37 -1 known missense c.1862 p.R621T 0.000 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 67 16 19.28 66 0 0.00 CCDC112 153733 genome.wustl.edu 37 5 114611699 114611699 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 114611699 114611699 C G SNP CCDC112 ENST00000379611 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.998 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 29 18 38.30 37 0 0.00 CCDC114 93233 genome.wustl.edu 37 19 48800516 48800516 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 48800516 48800516 G A SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.1730 p.T577M 0.004 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 70 24 25.53 82 0 0.00 CCDC114 93233 genome.wustl.edu 37 19 48801323 48801323 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 48801323 48801323 A G SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.1325 p.L442P 0.290 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 70 13 15.66 79 0 0.00 CCDC114 93233 genome.wustl.edu 37 19 48807308 48807308 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 48807308 48807308 C T SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.644 p.R215Q 1.000 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 33 17 34.00 66 0 0.00 CCDC114 93233 genome.wustl.edu 37 19 48814881 48814881 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 48814881 48814881 G T SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.415 p.L139M 0.893 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 32 4 11.11 36 0 0.00 CCDC114 93233 genome.wustl.edu 37 19 48824026 48824026 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 48824026 48824026 G A SNP CCDC114 ENST00000497803 human ensembl 70_37 -1 known rna NULL NULL 0.434 - - - no_errors CCDC114 HGNC ENSG00000105479 58 25 30.12 90 0 0.00 CCDC115 84317 genome.wustl.edu 37 2 131097203 131097203 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 131097203 131097203 G T SNP CCDC115 ENST00000442217 human ensembl 70_37 -1 known missense c.563 p.T188K 0.000 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 5 3 37.50 17 0 0.00 CCDC115 84317 genome.wustl.edu 37 2 131099622 131099622 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 131099622 131099622 C T SNP CCDC115 ENST00000442217 human ensembl 70_37 -1 known missense c.77 p.G26E 0.727 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 24 32 57.14 53 0 0.00 CCDC116 164592 genome.wustl.edu 37 22 21989060 21989060 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21989060 21989060 G T SNP CCDC116 ENST00000292779 human ensembl 70_37 +1 known missense c.708 p.E236D 0.062 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 8 10 55.56 24 0 0.00 CCDC116 164592 genome.wustl.edu 37 22 21991321 21991321 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21991321 21991321 G A SNP CCDC116 ENST00000292779 human ensembl 70_37 +1 known missense c.1804 p.E602K 0.010 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 17 9 34.62 39 0 0.00 CCDC117 150275 genome.wustl.edu 37 22 29169750 29169750 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 29169750 29169750 G C SNP CCDC117 ENST00000249064 human ensembl 70_37 +1 known missense c.223 p.E75Q 1.000 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 5 19 79.17 77 0 0.00 CCDC117 150275 genome.wustl.edu 37 22 29177021 29177021 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 29177021 29177021 G C SNP CCDC117 ENST00000249064 human ensembl 70_37 +1 known missense c.325 p.E109Q 0.514 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 59 7 10.61 42 0 0.00 CCDC12 151903 genome.wustl.edu 37 3 46982549 46982549 + Nonsense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 46982549 46982549 C A SNP CCDC12 ENST00000292314 human ensembl 70_37 -1 known nonsense c.142 p.E48* 1.000 pfam_mRNA_splic_Cwf18 pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC ENSG00000160799 23 4 14.81 31 0 0.00 CCDC12 151903 genome.wustl.edu 37 3 47018170 47018170 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 47018170 47018170 C T SNP CCDC12 ENST00000292314 human ensembl 70_37 -1 known missense c.92 p.R31Q 0.989 pfam_mRNA_splic_Cwf18 pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC ENSG00000160799 30 6 16.67 23 0 0.00 CCDC120 90060 genome.wustl.edu 37 X 48922114 48922114 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48922114 48922114 C T SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known nonsense c.538 p.Q180* 0.807 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 44 5 10.20 57 0 0.00 CCDC120 90060 genome.wustl.edu 37 X 48922603 48922603 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48922603 48922603 C G SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known nonsense c.656 p.S219* 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 35 33 48.53 91 0 0.00 CCDC120 90060 genome.wustl.edu 37 X 48923078 48923078 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 48923078 48923078 G A SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known missense c.776 p.R259Q 0.991 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 62 26 29.55 71 0 0.00 CCDC120 90060 genome.wustl.edu 37 X 48924808 48924808 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 48924808 48924808 C T SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known silent c.1053 p.F351 0.858 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 7 3 30.00 9 0 0.00 CCDC120 90060 genome.wustl.edu 37 X 48925127 48925127 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 48925127 48925127 G A SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known missense c.1372 p.G458S 0.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 29 15 34.09 48 0 0.00 CCDC122 160857 genome.wustl.edu 37 13 44411505 44411505 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 13 44411505 44411505 G T SNP CCDC122 ENST00000444614 human ensembl 70_37 -1 putative missense c.733 p.Q245K 1.000 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 31 7 18.42 32 0 0.00 CCDC122 160857 genome.wustl.edu 37 13 44443506 44443506 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 44443506 44443506 C T SNP CCDC122 ENST00000281508 human ensembl 70_37 -1 known missense c.7 p.D3N 0.061 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 41 19 31.67 89 0 0.00 CCDC124 115098 genome.wustl.edu 37 19 18047326 18047326 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 18047326 18047326 G T SNP CCDC124 ENST00000445755 human ensembl 70_37 +1 known nonsense c.97 p.E33* 1.000 NULL pfam_DUF1014,superfamily_HMG_superfamily - no_errors CCDC124 HGNC ENSG00000007080 23 15 39.47 35 0 0.00 CCDC125 202243 genome.wustl.edu 37 5 68577722 68577723 + RNA INS - - TG TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 5 68577722 68577723 - TG INS CCDC125 ENST00000460090 human ensembl 70_37 -1 known rna NULL NULL 0.027:0.023 - - - no_errors CCDC125 HGNC ENSG00000183323 44 5 10.20 32 0 0.00 CCDC125 202243 genome.wustl.edu 37 5 68578572 68578572 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68578572 68578572 G C SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known nonsense c.1520 p.S507* 0.988 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 31 20 39.22 43 0 0.00 CCDC125 202243 genome.wustl.edu 37 5 68578623 68578623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 68578623 68578623 G C SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.1469 p.S490C 0.000 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 59 16 21.33 58 0 0.00 CCDC125 202243 genome.wustl.edu 37 5 68581257 68581257 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 68581257 68581257 C G SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.1137 p.Q379H 0.995 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 41 18 30.51 63 0 0.00 CCDC125 202243 genome.wustl.edu 37 5 68595899 68595899 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 68595899 68595899 C G SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.756 p.K252N 1.000 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 307 86 21.88 426 0 0.00 CCDC126 90693 genome.wustl.edu 37 7 23651037 23651037 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 23651037 23651037 C T SNP CCDC126 ENST00000307471 human ensembl 70_37 +1 known nonsense c.103 p.Q35* 1.000 NULL NULL - no_errors CCDC126 HGNC ENSG00000169193 33 18 35.29 68 0 0.00 CCDC129 223075 genome.wustl.edu 37 7 31614227 31614227 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 31614227 31614227 G T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known nonsense c.547 p.E183* 0.998 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 20 20 50.00 25 0 0.00 CCDC129 223075 genome.wustl.edu 37 7 31682837 31682837 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 31682837 31682837 G T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known missense c.1931 p.R644L 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 88 40 31.01 146 0 0.00 CCDC129 223075 genome.wustl.edu 37 7 31683552 31683552 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 31683552 31683552 G A SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known silent c.2646 p.V882 0.996 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 35 4 10.26 22 0 0.00 CCDC129 223075 genome.wustl.edu 37 7 31692144 31692144 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 31692144 31692144 C T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known missense c.2914 p.L972F 0.017 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 98 22 18.33 164 0 0.00 CCDC13 152206 genome.wustl.edu 37 3 42777313 42777313 + Silent SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 42777313 42777313 C G SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known silent c.1257 p.L419 0.011 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 58 33 36.26 70 0 0.00 CCDC13 152206 genome.wustl.edu 37 3 42791312 42791312 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 42791312 42791312 C G SNP CCDC13 ENST00000435327 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC13 HGNC ENSG00000244607 28 11 28.21 35 0 0.00 CCDC13 152206 genome.wustl.edu 37 3 42791400 42791400 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 42791400 42791400 G C SNP CCDC13 ENST00000435327 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC13 HGNC ENSG00000244607 43 16 27.12 66 0 0.00 CCDC13 152206 genome.wustl.edu 37 3 42794151 42794151 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 42794151 42794151 C G SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known missense c.429 p.K143N 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 76 10 11.63 126 0 0.00 CCDC13 152206 genome.wustl.edu 37 3 42799773 42799773 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 42799773 42799773 T A SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known missense c.65 p.Q22L 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 93 52 35.86 126 0 0.00 CCDC130 81576 genome.wustl.edu 37 19 13869865 13869865 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 13869865 13869865 G A SNP CCDC130 ENST00000589096 human ensembl 70_37 +1 putative silent c.144 p.L48 0.000 NULL pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 20 5 20.00 29 0 0.00 CCDC132 55610 genome.wustl.edu 37 7 92905519 92905519 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 92905519 92905519 C G SNP CCDC132 ENST00000305866 human ensembl 70_37 +1 known missense c.844 p.H282D 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 27 20 42.55 41 0 0.00 CCDC132 55610 genome.wustl.edu 37 7 92905564 92905564 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 92905564 92905564 G A SNP CCDC132 ENST00000305866 human ensembl 70_37 +1 known missense c.889 p.A297T 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 43 17 28.33 46 0 0.00 CCDC134 79879 genome.wustl.edu 37 22 42205902 42205902 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 42205902 42205902 G A SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known silent c.123 p.V41 1.000 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 35 11 23.91 41 0 0.00 CCDC134 79879 genome.wustl.edu 37 22 42209804 42209804 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 42209804 42209804 C T SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known missense c.542 p.P181L 1.000 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 48 28 36.84 68 0 0.00 CCDC134 79879 genome.wustl.edu 37 22 42209805 42209805 + Silent SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 42209805 42209805 A T SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known silent c.543 p.P181 0.989 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 48 29 37.66 69 0 0.00 CCDC135 84229 genome.wustl.edu 37 16 57741510 57741510 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57741510 57741510 G T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known nonsense c.997 p.E333* 0.019 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 17 21 55.26 34 0 0.00 CCDC135 84229 genome.wustl.edu 37 16 57760115 57760115 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57760115 57760115 C T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 39 13 25.00 19 0 0.00 CCDC135 84229 genome.wustl.edu 37 16 57760115 57760115 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57760115 57760115 C T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 72 14 16.09 97 0 0.00 CCDC137 339230 genome.wustl.edu 37 17 79634867 79634867 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 79634867 79634867 C T SNP CCDC137 ENST00000329214 human ensembl 70_37 +1 known silent c.243 p.I81 0.742 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 8 6 42.86 19 0 0.00 CCDC14 64770 genome.wustl.edu 37 3 123634465 123634465 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 123634465 123634465 G A SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.2023 p.H675Y 0.934 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 183 44 19.21 205 0 0.00 CCDC14 64770 genome.wustl.edu 37 3 123667908 123667908 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 123667908 123667908 C T SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.568 p.E190K 0.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 52 10 16.13 36 0 0.00 CCDC14 64770 genome.wustl.edu 37 3 123674792 123674792 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 123674792 123674792 C T SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.394 p.E132K 1.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 42 7 14.29 44 0 0.00 CCDC14 64770 genome.wustl.edu 37 3 123675218 123675218 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 123675218 123675218 G C SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.287 p.S96C 0.994 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 14 8 36.36 50 0 0.00 CCDC14 64770 genome.wustl.edu 37 3 123680158 123680158 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 123680158 123680158 G A SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.7 p.R3C 0.143 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 16 9 34.62 23 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179698970 179698970 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 179698970 179698970 C G SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.4523 p.R1508T 0.987 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 46 10 17.86 62 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179702250 179702250 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179702250 179702250 C T SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3696 p.M1232I 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 17 15 46.88 20 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179714787 179714787 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179714787 179714787 C G SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3346 p.E1116Q 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 25 18 41.86 30 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179714862 179714862 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 179714862 179714862 C T SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3271 p.E1091K 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 35 16 31.37 44 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179742638 179742638 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179742638 179742638 G A SNP CCDC141 ENST00000409284 human ensembl 70_37 -1 putative missense c.1952 p.S651L 0.988 NULL pfam_Spectrin_repeat - no_errors CCDC141 HGNC ENSG00000163492 9 5 35.71 12 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179749674 179749674 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 179749674 179749674 G A SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.1673 p.S558L 0.409 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 29 9 23.68 44 0 0.00 CCDC141 285025 genome.wustl.edu 37 2 179912014 179912014 + Silent SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 179912014 179912014 G C SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known silent c.222 p.L74 1.000 pfam_Spectrin_repeat pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 30 17 36.17 75 0 0.00 CCDC142 84865 genome.wustl.edu 37 2 74708006 74708006 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74708006 74708006 G C SNP CCDC142 ENST00000393965 human ensembl 70_37 -1 known missense c.1393 p.L465V 0.645 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 9 6 40.00 30 0 0.00 CCDC142 84865 genome.wustl.edu 37 2 74709300 74709300 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 74709300 74709300 T G SNP CCDC142 ENST00000393965 human ensembl 70_37 -1 known missense c.665 p.H222P 0.000 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 39 8 17.02 39 0 0.00 CCDC144A 9720 genome.wustl.edu 37 17 16623539 16623539 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 16623539 16623539 G C SNP CCDC144A ENST00000360524 human ensembl 70_37 +1 known missense c.1743 p.K581N 0.925 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 76 24 24.00 77 0 0.00 CCDC144A 9720 genome.wustl.edu 37 17 16638763 16638763 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 16638763 16638763 C T SNP CCDC144A ENST00000360524 human ensembl 70_37 +1 known missense c.3178 p.H1060Y 0.262 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 36 29 44.62 46 0 0.00 CCDC144B 284047 genome.wustl.edu 37 17 18454926 18454927 + RNA INS - - C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 17 18454926 18454927 - C INS CCDC144B ENST00000446853 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors CCDC144B HGNC ENSG00000154874 24 5 17.24 16 0 0.00 CCDC144CP 348254 genome.wustl.edu 37 17 20224971 20224971 + RNA SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 20224971 20224971 G A SNP CCDC144C ENST00000340196 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC144C HGNC ENSG00000154898 186 27 12.68 246 0 0.00 CCDC144CP 348254 genome.wustl.edu 37 17 20241384 20241384 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 20241384 20241384 A C SNP CCDC144C ENST00000340196 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CCDC144C HGNC ENSG00000154898 19 13 40.62 40 0 0.00 CCDC144CP 348254 genome.wustl.edu 37 17 20243527 20243527 + RNA SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 20243527 20243527 A T SNP CCDC144C ENST00000580574 human ensembl 70_37 +1 known rna NULL NULL 0.955 - - - no_errors CCDC144C HGNC ENSG00000154898 7 8 53.33 22 0 0.00 CCDC144NL 339184 genome.wustl.edu 37 17 20799133 20799133 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 20799133 20799133 G A SNP CCDC144NL ENST00000327925 human ensembl 70_37 -1 known silent c.201 p.G67 0.000 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 34 12 26.09 43 0 0.00 CCDC146 57639 genome.wustl.edu 37 7 76751981 76751981 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 76751981 76751981 G C SNP CCDC146 ENST00000495584 human ensembl 70_37 +1 putative rna NULL NULL 0.774 - - - no_errors CCDC146 HGNC ENSG00000135205 13 4 23.53 28 0 0.00 CCDC146 57639 genome.wustl.edu 37 7 76797094 76797094 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 76797094 76797094 C T SNP CCDC146 ENST00000285871 human ensembl 70_37 +1 known missense c.109 p.R37W 0.984 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 174 49 21.97 258 0 0.00 CCDC146 57639 genome.wustl.edu 37 7 76908107 76908107 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 76908107 76908107 G A SNP CCDC146 ENST00000285871 human ensembl 70_37 +1 known silent c.1479 p.K493 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 41 8 16.33 46 0 0.00 CCDC147 159686 genome.wustl.edu 37 10 106118345 106118345 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 106118345 106118345 C T SNP CCDC147 ENST00000369704 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 17 6 26.09 17 0 0.00 CCDC147 159686 genome.wustl.edu 37 10 106139912 106139912 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 106139912 106139912 G C SNP CCDC147 ENST00000369704 human ensembl 70_37 +1 known missense c.1299 p.K433N 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 54 18 25.00 63 0 0.00 CCDC148 130940 genome.wustl.edu 37 2 159166127 159166127 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 159166127 159166127 G A SNP CCDC148 ENST00000283233 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.540 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 43 11 20.37 65 0 0.00 CCDC148 130940 genome.wustl.edu 37 2 159170296 159170296 + Missense_Mutation SNP T T C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 159170296 159170296 T C SNP CCDC148 ENST00000283233 human ensembl 70_37 -1 known missense c.875 p.Y292C 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 58 7 10.77 165 0 0.00 CCDC148-AS1 554201 genome.wustl.edu 37 2 159034575 159034575 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 159034575 159034575 G A SNP CCDC148-AS1 ENST00000412781 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors CCDC148-AS1 HGNC ENSG00000227480 43 10 18.87 46 0 0.00 CCDC149 91050 genome.wustl.edu 37 4 24810020 24810020 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 24810020 24810020 C G SNP CCDC149 ENST00000504487 human ensembl 70_37 -1 known silent c.1581 p.V527 0.152 NULL pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 23 14 37.84 47 0 0.00 CCDC15 80071 genome.wustl.edu 37 11 124845006 124845006 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124845006 124845006 G A SNP CCDC15 ENST00000344762 human ensembl 70_37 +1 known missense c.531 p.M177I 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 33 5 13.16 36 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197504478 197504478 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 197504478 197504478 C G SNP CCDC150 ENST00000498512 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 17 6 26.09 31 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197521510 197521510 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 197521510 197521510 C G SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known silent c.330 p.L110 0.985 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 60 21 25.93 47 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197565863 197565863 + Nonsense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 2 197565863 197565863 G T SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known nonsense c.1654 p.E552* 0.893 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 45 21 31.82 46 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197578347 197578347 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 197578347 197578347 G C SNP CCDC150 ENST00000409270 human ensembl 70_37 +1 known missense c.267 p.E89D 0.993 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 29 5 14.71 25 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197596820 197596820 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 197596820 197596820 G C SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known missense c.3133 p.E1045Q 0.998 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 24 33 57.89 54 0 0.00 CCDC150 284992 genome.wustl.edu 37 2 197596856 197596856 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197596856 197596856 G A SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known missense c.3169 p.E1057K 0.968 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 24 13 35.14 58 0 0.00 CCDC151 115948 genome.wustl.edu 37 19 11531613 11531613 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11531613 11531613 C T SNP CCDC151 ENST00000356392 human ensembl 70_37 -1 known missense c.1678 p.E560K 0.993 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 63 22 25.88 68 0 0.00 CCDC151 115948 genome.wustl.edu 37 19 11545671 11545671 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 11545671 11545671 C T SNP CCDC151 ENST00000356392 human ensembl 70_37 -1 known missense c.167 p.G56E 0.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 23 22 48.89 40 0 0.00 CCDC152 100129792 genome.wustl.edu 37 5 42769698 42769698 + Splice_Site SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 42769698 42769698 G A SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known splice_site c.194-1 e3-1 1.000 - - - no_errors CCDC152 HGNC ENSG00000198865 124 42 25.30 76 0 0.00 CCDC152 100129792 genome.wustl.edu 37 5 42796957 42796957 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 42796957 42796957 G C SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 NULL NULL - no_errors CCDC152 HGNC ENSG00000198865 22 21 48.84 37 0 0.00 CCDC152 100129792 genome.wustl.edu 37 5 42796957 42796957 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 42796957 42796957 G C SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 NULL NULL - no_errors CCDC152 HGNC ENSG00000198865 31 4 11.43 41 0 0.00 CCDC153 283152 genome.wustl.edu 37 11 119061433 119061433 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 119061433 119061433 C T SNP CCDC153 ENST00000415318 human ensembl 70_37 -1 known missense c.466 p.E156K 0.952 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 31 16 34.04 42 0 0.00 CCDC153 283152 genome.wustl.edu 37 11 119063888 119063888 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 119063888 119063888 C T SNP CCDC153 ENST00000415318 human ensembl 70_37 -1 known missense c.322 p.E108K 0.889 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 27 15 35.71 25 0 0.00 CCDC158 339965 genome.wustl.edu 37 4 77288626 77288626 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 77288626 77288626 C T SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.1651 p.E551K 0.997 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 41 15 26.79 100 0 0.00 CCDC158 339965 genome.wustl.edu 37 4 77288844 77288844 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77288844 77288844 C T SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.1433 p.R478H 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 34 11 24.44 74 0 0.00 CCDC158 339965 genome.wustl.edu 37 4 77296769 77296769 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77296769 77296769 C T SNP CCDC158 ENST00000434846 human ensembl 70_37 -1 putative missense c.1118 p.R373H 0.998 NULL NULL - no_errors CCDC158 HGNC ENSG00000163749 12 6 33.33 46 0 0.00 CCDC158 339965 genome.wustl.edu 37 4 77305711 77305711 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 77305711 77305711 G C SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.396 p.I132M 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 3 8 72.73 13 0 0.00 CCDC159 126075 genome.wustl.edu 37 19 11462747 11462747 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11462747 11462747 G A SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.505 p.E169K 0.963 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 30 20 40.00 45 0 0.00 CCDC159 126075 genome.wustl.edu 37 19 11464109 11464109 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 11464109 11464109 C A SNP CCDC159 ENST00000586479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC159 HGNC ENSG00000183401 30 19 38.78 35 0 0.00 CCDC159 126075 genome.wustl.edu 37 19 11464470 11464470 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11464470 11464470 C G SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.692 p.S231C 0.987 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 15 7 31.82 15 0 0.00 CCDC159 126075 genome.wustl.edu 37 19 11465310 11465310 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 11465310 11465310 C T SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.827 p.S276F 0.016 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 15 3 16.67 45 0 0.00 CCDC160 347475 genome.wustl.edu 37 X 133378999 133378999 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 133378999 133378999 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.169 p.E57K 0.955 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 33 11 25.00 40 0 0.00 CCDC160 347475 genome.wustl.edu 37 X 133379429 133379429 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 133379429 133379429 A G SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.599 p.D200G 0.008 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 14 4 22.22 27 0 0.00 CCDC160 347475 genome.wustl.edu 37 X 133379541 133379541 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 133379541 133379541 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known silent c.711 p.E237 0.873 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 36 4 10.00 35 0 0.00 CCDC160 347475 genome.wustl.edu 37 X 133379619 133379619 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 133379619 133379619 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.789 p.M263I 0.984 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 75 19 20.00 95 0 0.00 CCDC162P 221262 genome.wustl.edu 37 6 109630722 109630722 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 109630722 109630722 G C SNP CCDC162P ENST00000506861 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCDC162P HGNC ENSG00000203799 32 33 50.77 36 0 0.00 DRC1 92749 genome.wustl.edu 37 2 26667594 26667594 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 26667594 26667594 C G SNP CCDC164 ENST00000288710 human ensembl 70_37 +1 known missense c.1174 p.L392V 0.000 NULL NULL - no_errors CCDC164 HGNC ENSG00000157856 43 8 15.69 52 0 0.00 DRC1 92749 genome.wustl.edu 37 2 26677530 26677530 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 26677530 26677530 G A SNP CCDC164 ENST00000288710 human ensembl 70_37 +1 known silent c.1935 p.P645 0.000 NULL NULL - no_errors CCDC164 HGNC ENSG00000157856 26 8 23.53 48 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103381995 103381996 + Frame_Shift_Ins INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 13 103381995 103381996 - A INS CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_ins c.7165_7164 p.A2388fs 0.998:0.998 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 47 10 17.54 37 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103381996 103381996 + Frame_Shift_Del DEL A A - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 103381996 103381996 A - DEL CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_del c.7164 p.F2388fs 0.998 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 27 3 10.00 35 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103384590 103384590 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 103384590 103384590 G A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.4570 p.R1524C 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 22 9 29.03 53 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103385004 103385004 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103385004 103385004 C A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.4156 p.A1386S 0.007 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 35 16 31.37 78 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103385999 103385999 + Frame_Shift_Del DEL T T - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 103385999 103385999 T - DEL CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_del c.3161 p.K1054fs 0.033 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 4 2 33.33 19 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103386923 103386924 + Frame_Shift_Ins INS - - T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 103386923 103386924 - T INS CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_ins c.2237_2236 p.I746fs 0.000:0.005 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 59 8 11.94 37 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103386961 103386961 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103386961 103386961 T A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.2199 p.Q733H 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 25 6 19.35 72 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103387185 103387185 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103387185 103387185 C T SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.1975 p.E659K 0.147 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 8 4 33.33 24 0 0.00 CCDC168 643677 genome.wustl.edu 37 13 103388334 103388334 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 103388334 103388334 C G SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.826 p.E276Q 0.001 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 10 5 33.33 57 0 0.00 CCDC17 149483 genome.wustl.edu 37 1 46086415 46086415 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46086415 46086415 C A SNP CCDC17 ENST00000343901 human ensembl 70_37 -1 known nonsense c.1594 p.E532* 0.700 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 20 10 33.33 27 0 0.00 CCDC17 149483 genome.wustl.edu 37 1 46086631 46086631 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 46086631 46086631 G A SNP CCDC17 ENST00000343901 human ensembl 70_37 -1 known missense c.1447 p.R483W 0.978 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 33 12 26.67 48 0 0.00 CCDC170 80129 genome.wustl.edu 37 6 151936652 151936652 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 151936652 151936652 G A SNP CCDC170 ENST00000367290 human ensembl 70_37 +1 known silent c.1806 p.E602 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 20 5 20.00 36 0 0.00 CCDC170 80129 genome.wustl.edu 37 6 151936779 151936779 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 151936779 151936779 A C SNP CCDC170 ENST00000367290 human ensembl 70_37 +1 known missense c.1933 p.K645Q 0.001 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 6 4 40.00 28 0 0.00 CCDC171 203238 genome.wustl.edu 37 9 15695319 15695319 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 15695319 15695319 G A SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known silent c.1302 p.S434 0.996 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 32 16 33.33 27 0 0.00 CCDC171 203238 genome.wustl.edu 37 9 15727996 15727996 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 15727996 15727996 G C SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known missense c.1822 p.D608H 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 23 5 17.86 51 0 0.00 CCDC171 203238 genome.wustl.edu 37 9 15728012 15728012 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 15728012 15728012 A G SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known missense c.1838 p.D613G 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 15 6 28.57 38 0 0.00 CCDC171 203238 genome.wustl.edu 37 9 15922183 15922183 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 15922183 15922183 C T SNP CCDC171 ENST00000486641 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC171 HGNC ENSG00000164989 12 57 82.61 27 0 0.00 CCDC174 51244 genome.wustl.edu 37 3 14693368 14693368 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14693368 14693368 G A SNP CCDC174 ENST00000383794 human ensembl 70_37 +1 known missense c.25 p.D9N 1.000 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 32 19 37.25 53 0 0.00 CCDC175 729665 genome.wustl.edu 37 14 59977348 59977348 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 59977348 59977348 C G SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.2321 p.R774T 0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 60 21 25.93 77 0 0.00 CCDC175 729665 genome.wustl.edu 37 14 59992110 59992110 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 59992110 59992110 T G SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.1885 p.S629R 0.713 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 26 4 13.33 62 0 0.00 CCDC175 729665 genome.wustl.edu 37 14 60004827 60004827 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 60004827 60004827 C T SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.1537 p.E513K 0.117 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 33 11 25.00 50 0 0.00 CCDC175 729665 genome.wustl.edu 37 14 60035004 60035004 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 60035004 60035004 C A SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.450 p.K150N 0.220 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 44 17 27.87 49 0 0.00 CCDC175 729665 genome.wustl.edu 37 14 60035021 60035021 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 60035021 60035021 C T SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.433 p.E145K 0.830 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 27 16 36.36 61 0 0.00 CCDC176 80127 genome.wustl.edu 37 14 74516643 74516643 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 74516643 74516643 G A SNP CCDC176 ENST00000394009 human ensembl 70_37 +1 known missense c.1031 p.R344H 0.934 NULL NULL - no_errors CCDC176 HGNC ENSG00000119636 19 5 20.83 30 0 0.00 CCDC178 374864 genome.wustl.edu 37 18 30846981 30846981 + Silent SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 30846981 30846981 T C SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known silent c.1308 p.A436 0.652 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 18 11 37.93 29 0 0.00 CCDC178 374864 genome.wustl.edu 37 18 30926242 30926242 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 30926242 30926242 C G SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known missense c.591 p.M197I 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 41 5 10.87 53 0 0.00 CCDC178 374864 genome.wustl.edu 37 18 30926288 30926288 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 30926288 30926288 G T SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known missense c.545 p.A182E 0.996 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 29 4 12.12 49 0 0.00 CCDC18 343099 genome.wustl.edu 37 1 93646208 93646208 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 93646208 93646208 C T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known missense c.121 p.R41W 0.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 27 19 41.30 57 0 0.00 CCDC18 343099 genome.wustl.edu 37 1 93657578 93657578 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93657578 93657578 C T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known nonsense c.838 p.Q280* 0.997 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 22 13 37.14 37 0 0.00 CCDC18 343099 genome.wustl.edu 37 1 93672937 93672937 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 93672937 93672937 G T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known missense c.1545 p.K515N 0.669 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 19 9 32.14 22 0 0.00 CCDC19 25790 genome.wustl.edu 37 1 159842990 159842990 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 159842990 159842990 C T SNP CCDC19 ENST00000479861 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC ENSG00000213085 27 4 12.90 22 0 0.00 CCDC19 25790 genome.wustl.edu 37 1 159846318 159846318 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159846318 159846318 G A SNP CCDC19 ENST00000475911 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC ENSG00000213085 40 18 31.03 47 0 0.00 CCDC19 25790 genome.wustl.edu 37 1 159857691 159857691 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159857691 159857691 G A SNP CCDC19 ENST00000368099 human ensembl 70_37 -1 known silent c.528 p.L176 0.970 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 48 46 48.94 52 0 0.00 CCDC19 25790 genome.wustl.edu 37 1 159869894 159869894 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 159869894 159869894 C T SNP CCDC19 ENST00000476696 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC ENSG00000213085 22 7 24.14 30 0 0.00 CCDC22 28952 genome.wustl.edu 37 X 49104953 49104953 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 49104953 49104953 G A SNP CCDC22 ENST00000376227 human ensembl 70_37 +1 known missense c.1298 p.R433H 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 30 28 48.28 88 0 0.00 CCDC22 28952 genome.wustl.edu 37 X 49105663 49105663 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 49105663 49105663 C T SNP CCDC22 ENST00000376227 human ensembl 70_37 +1 known silent c.1575 p.I525 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 46 13 22.03 61 0 0.00 CCDC24 149473 genome.wustl.edu 37 1 44461379 44461379 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 44461379 44461379 C T SNP CCDC24 ENST00000463846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC24 HGNC ENSG00000159214 15 15 50.00 21 0 0.00 CCDC27 148870 genome.wustl.edu 37 1 3670736 3670736 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 3670736 3670736 C T SNP CCDC27 ENST00000294600 human ensembl 70_37 +1 known nonsense c.373 p.R125* 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 33 20 37.74 63 0 0.00 CCDC28A 25901 genome.wustl.edu 37 6 139095016 139095016 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 139095016 139095016 G A SNP CCDC28A ENST00000332797 human ensembl 70_37 +1 known missense c.205 p.G69S 0.266 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 114 58 33.53 119 0 0.00 CCDC28B 79140 genome.wustl.edu 37 1 32667643 32667643 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 32667643 32667643 C T SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known missense c.107 p.S36F 1.000 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 45 20 30.77 62 0 0.00 CCDC28B 79140 genome.wustl.edu 37 1 32667666 32667666 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 32667666 32667666 C T SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known silent c.130 p.L44 1.000 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 45 21 31.82 59 0 0.00 CCDC28B 79140 genome.wustl.edu 37 1 32669565 32669565 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 32669565 32669565 G A SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known missense c.250 p.E84K 1.000 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 26 9 25.71 34 0 0.00 CCDC28B 79140 genome.wustl.edu 37 1 32669616 32669616 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 32669616 32669616 G T SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known missense c.301 p.D101Y 1.000 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 15 10 40.00 35 0 0.00 CCDC3 83643 genome.wustl.edu 37 10 12940471 12940471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12940471 12940471 G A SNP CCDC3 ENST00000378825 human ensembl 70_37 -1 known missense c.758 p.A253V 0.004 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 4 7 63.64 21 0 0.00 CCDC3 83643 genome.wustl.edu 37 10 13040405 13040405 + Nonsense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 13040405 13040405 G C SNP CCDC3 ENST00000378825 human ensembl 70_37 -1 known nonsense c.482 p.S161* 1.000 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 45 17 27.42 38 0 0.00 CCDC30 728621 genome.wustl.edu 37 1 43111938 43111938 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43111938 43111938 G T SNP CCDC30 ENST00000340612 human ensembl 70_37 +1 known missense c.2023 p.D675Y 0.055 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 6 7 53.85 19 0 0.00 CCDC33 80125 genome.wustl.edu 37 15 74564043 74564043 + Splice_Site SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74564043 74564043 G A SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known splice_site c.1156-1 e8-1 1.000 - - - no_errors CCDC33 HGNC ENSG00000140481 15 16 51.61 28 0 0.00 CCDC33 80125 genome.wustl.edu 37 15 74623334 74623334 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 74623334 74623334 G C SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known missense c.2167 p.E723Q 0.997 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 25 12 32.43 33 0 0.00 CCDC33 80125 genome.wustl.edu 37 15 74625601 74625601 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 74625601 74625601 G C SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known missense c.2587 p.E863Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 56 11 16.42 26 0 0.00 CCDC33 80125 genome.wustl.edu 37 15 74627326 74627326 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 15 74627326 74627326 C T SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known missense c.2747 p.S916L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 37 29 43.94 51 0 0.00 CCDC34 91057 genome.wustl.edu 37 11 27384593 27384593 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 27384593 27384593 G A SNP CCDC34 ENST00000328697 human ensembl 70_37 -1 known missense c.149 p.S50L 0.003 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 30 16 34.78 55 0 0.00 CCDC36 339834 genome.wustl.edu 37 3 49293632 49293632 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49293632 49293632 G T SNP CCDC36 ENST00000296449 human ensembl 70_37 +1 known missense c.702 p.Q234H 1.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 48 32 40.00 88 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126133025 126133025 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 126133025 126133025 G A SNP CCDC37 ENST00000510833 human ensembl 70_37 +1 putative silent c.228 p.V76 0.985 NULL NULL - no_errors CCDC37 HGNC ENSG00000163885 55 17 23.61 51 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126137952 126137952 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 126137952 126137952 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.687 p.K229 0.996 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 15 3 16.67 18 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126138978 126138978 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 126138978 126138978 C G SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known missense c.991 p.L331V 0.002 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 95 31 24.60 48 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126139026 126139026 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 126139026 126139026 C T SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known nonsense c.1039 p.Q347* 0.013 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 47 7 12.96 33 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126142171 126142171 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 126142171 126142171 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1089 p.S363 0.011 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 77 19 19.79 29 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126151924 126151924 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 126151924 126151924 C T SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1302 p.V434 0.973 superfamily_SuperAg_toxin_C_Staph/Strep superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 42 20 32.26 64 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126151933 126151933 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 126151933 126151933 G C SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1311 p.L437 1.000 superfamily_SuperAg_toxin_C_Staph/Strep superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 48 15 23.81 63 0 0.00 CCDC37 348807 genome.wustl.edu 37 3 126153218 126153218 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 126153218 126153218 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known missense c.1625 p.R542H 0.477 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 47 12 20.00 72 0 0.00 CCDC38 120935 genome.wustl.edu 37 12 96275265 96275265 + Missense_Mutation SNP A A T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 12 96275265 96275265 A T SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.988 p.L330M 0.075 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 16 12 42.86 76 0 0.00 CCDC38 120935 genome.wustl.edu 37 12 96275268 96275268 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 96275268 96275268 C T SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.985 p.D329N 0.023 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 32 18 36.00 76 0 0.00 CCDC38 120935 genome.wustl.edu 37 12 96292426 96292426 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 96292426 96292426 C G SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.453 p.E151D 0.985 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 212 33 13.47 177 0 0.00 CCDC38 120935 genome.wustl.edu 37 12 96300167 96300167 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 96300167 96300167 C G SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.367 p.E123Q 0.993 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 15 10 40.00 19 0 0.00 CCDC38 120935 genome.wustl.edu 37 12 96300199 96300199 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 96300199 96300199 A C SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.335 p.F112C 1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 4 7 63.64 26 0 0.00 CCDC39 339829 genome.wustl.edu 37 3 180381770 180381770 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 180381770 180381770 G C SNP CCDC39 ENST00000442201 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.895 superfamily_tRNA-bd_arm superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 36 17 32.08 31 0 0.00 CCDC39 339829 genome.wustl.edu 37 3 180426572 180426572 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 180426572 180426572 C A SNP CCDC39 ENST00000273654 human ensembl 70_37 -1 known missense c.42 p.W14C 0.001 NULL superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 30 4 11.76 25 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78013713 78013713 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 78013713 78013713 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.196 p.E66Q 0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 32 18 36.00 32 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78024013 78024013 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78024013 78024013 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.1090 p.E364Q 1.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 31 4 11.43 44 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78055562 78055562 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 78055562 78055562 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.1780 p.E594Q 0.739 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 4 15 78.95 29 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78064063 78064064 + Frame_Shift_Ins INS - - A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 78064063 78064064 - A INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known frame_shift_ins c.2958_2959 p.G986fs 0.005:0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 32 7 17.95 27 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78064065 78064066 + In_Frame_Ins INS - - CAC TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 78064065 78064066 - CAC INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known in_frame_ins c.2960_2961 p.988in_frame_insT 0.007:0.009 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 31 7 18.42 27 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78064145 78064146 + In_Frame_Ins INS - - CAC TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 78064145 78064146 - CAC INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known in_frame_ins c.3040_3041 p.1014in_frame_insT 0.064:0.067 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 5 3 37.50 9 0 0.00 CCDC40 55036 genome.wustl.edu 37 17 78071135 78071135 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 78071135 78071135 C T SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.3113 p.S1038L 0.077 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 64 12 15.79 69 0 0.00 CCDC41 51134 genome.wustl.edu 37 12 94729391 94729391 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 94729391 94729391 T C SNP CCDC41 ENST00000339839 human ensembl 70_37 -1 known missense c.1393 p.K465E 1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 41 10 19.61 38 0 0.00 CCDC42 146849 genome.wustl.edu 37 17 8638461 8638461 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 8638461 8638461 C T SNP CCDC42 ENST00000293845 human ensembl 70_37 -1 known missense c.826 p.E276K 0.997 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 27 24 47.06 37 0 0.00 CCDC47 57003 genome.wustl.edu 37 17 61831833 61831833 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 61831833 61831833 G A SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.994 p.H332Y 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 16 3 15.79 13 0 0.00 CCDC47 57003 genome.wustl.edu 37 17 61842130 61842130 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 61842130 61842130 G C SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.342 p.S114R 1.000 NULL pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 72 13 15.29 80 0 0.00 CCDC47 57003 genome.wustl.edu 37 17 61843464 61843464 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61843464 61843464 A C SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.72 p.D24E 0.998 NULL pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 12 11 47.83 29 0 0.00 EFCC1 79825 genome.wustl.edu 37 3 128751707 128751707 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128751707 128751707 C G SNP CCDC48 ENST00000480450 human ensembl 70_37 +1 novel missense c.1181 p.S394C 1.000 NULL pfscan_EF_HAND_2 - no_errors CCDC48 HGNC ENSG00000114654 71 24 25.26 46 0 0.00 CCDC50 152137 genome.wustl.edu 37 3 191047505 191047505 + Silent SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 191047505 191047505 C G SNP CCDC50 ENST00000392456 human ensembl 70_37 +1 known silent c.42 p.V14 0.991 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 15 5 25.00 9 0 0.00 CCDC50 152137 genome.wustl.edu 37 3 191075842 191075842 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 191075842 191075842 C G SNP CCDC50 ENST00000392456 human ensembl 70_37 +1 known silent c.168 p.L56 0.966 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 42 70 61.40 66 0 0.00 CCDC53 51019 genome.wustl.edu 37 12 102439876 102439876 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 102439876 102439876 G A SNP CCDC53 ENST00000240079 human ensembl 70_37 -1 known missense c.172 p.R58C 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC ENSG00000120860 42 22 34.38 59 0 0.00 CCDC53 51019 genome.wustl.edu 37 12 102439876 102439876 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102439876 102439876 G A SNP CCDC53 ENST00000240079 human ensembl 70_37 -1 known missense c.172 p.R58C 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC ENSG00000120860 18 6 25.00 46 0 0.00 CCDC57 284001 genome.wustl.edu 37 17 80059623 80059623 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80059623 80059623 G A SNP CCDC57 ENST00000389641 human ensembl 70_37 -1 known missense c.2686 p.H896Y 0.003 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 88 21 19.27 79 0 0.00 CCDC57 284001 genome.wustl.edu 37 17 80151681 80151681 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 80151681 80151681 G A SNP CCDC57 ENST00000389641 human ensembl 70_37 -1 known missense c.802 p.H268Y 0.083 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 73 35 32.11 85 0 0.00 CCDC58 131076 genome.wustl.edu 37 3 122087074 122087074 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 122087074 122087074 C G SNP CCDC58 ENST00000291458 human ensembl 70_37 -1 known missense c.273 p.K91N 1.000 pfam_Caffeine_induced_death_Cid2 pfam_Caffeine_induced_death_Cid2 - no_errors CCDC58 HGNC ENSG00000160124 24 7 22.58 54 0 0.00 CCDC59 29080 genome.wustl.edu 37 12 82750802 82750802 + Nonsense_Mutation SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 82750802 82750802 A T SNP CCDC59 ENST00000256151 human ensembl 70_37 -1 known nonsense c.401 p.L134* 0.000 NULL pfam_rRNA_processing,prints_BR22 - no_errors CCDC59 HGNC ENSG00000133773 55 34 38.20 29 0 0.00 CCDC59 29080 genome.wustl.edu 37 12 82752008 82752008 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 82752008 82752008 G A SNP CCDC59 ENST00000256151 human ensembl 70_37 -1 known missense c.148 p.R50C 0.999 prints_BR22 pfam_rRNA_processing,prints_BR22 - no_errors CCDC59 HGNC ENSG00000133773 82 25 23.36 79 0 0.00 CCDC6 8030 genome.wustl.edu 37 10 61566793 61566793 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 61566793 61566793 C T SNP CCDC6 ENST00000263102 human ensembl 70_37 -1 known missense c.891 p.M297I 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 26 14 35.00 45 0 0.00 CCDC60 160777 genome.wustl.edu 37 12 119772968 119772968 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 119772968 119772968 G A SNP CCDC60 ENST00000546345 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CCDC60 HGNC ENSG00000183273 34 17 33.33 25 0 0.00 CCDC60 160777 genome.wustl.edu 37 12 119954432 119954432 + Silent SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 119954432 119954432 G T SNP CCDC60 ENST00000327554 human ensembl 70_37 +1 known silent c.888 p.L296 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 31 4 11.43 32 0 0.00 CCDC60 160777 genome.wustl.edu 37 12 119961580 119961580 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 119961580 119961580 G C SNP CCDC60 ENST00000327554 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 21 12 36.36 37 0 0.00 CCDC61 729440 genome.wustl.edu 37 19 46520259 46520259 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46520259 46520259 C T SNP CCDC61 ENST00000263284 human ensembl 70_37 +1 known silent c.1299 p.F433 0.998 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 54 16 22.86 73 0 0.00 CCDC62 84660 genome.wustl.edu 37 12 123265839 123265839 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123265839 123265839 A C SNP CCDC62 ENST00000253079 human ensembl 70_37 +1 known missense c.358 p.K120Q 0.802 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 20 10 33.33 49 0 0.00 CCDC63 160762 genome.wustl.edu 37 12 111291255 111291255 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 111291255 111291255 C T SNP CCDC63 ENST00000308208 human ensembl 70_37 +1 known missense c.56 p.S19L 0.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 15 10 40.00 43 0 0.00 CCDC63 160762 genome.wustl.edu 37 12 111318975 111318975 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 111318975 111318975 C G SNP CCDC63 ENST00000308208 human ensembl 70_37 +1 known missense c.728 p.S243C 0.994 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 28 17 37.78 59 0 0.00 CCDC64 92558 genome.wustl.edu 37 12 120518757 120518757 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 120518757 120518757 G A SNP CCDC64 ENST00000257583 human ensembl 70_37 +1 known missense c.466 p.E156K 1.000 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 13 16 55.17 30 0 0.00 CCDC64B 146439 genome.wustl.edu 37 16 3078714 3078714 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 16 3078714 3078714 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known missense c.1225 p.E409K 0.009 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 44 99 69.23 137 0 0.00 CCDC64B 146439 genome.wustl.edu 37 16 3080597 3080597 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3080597 3080597 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known splice_site c.616-1 e4-1 1.000 - - - no_errors CCDC64B HGNC ENSG00000162069 77 31 28.70 70 0 0.00 CCDC64B 146439 genome.wustl.edu 37 16 3081097 3081097 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 3081097 3081097 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known missense c.337 p.E113K 0.998 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 10 10 50.00 14 0 0.00 CCDC65 85478 genome.wustl.edu 37 12 49312138 49312138 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 49312138 49312138 C T SNP CCDC65 ENST00000266984 human ensembl 70_37 +1 known silent c.690 p.L230 1.000 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 16 7 30.43 30 0 0.00 CCDC66 285331 genome.wustl.edu 37 3 56597937 56597937 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 56597937 56597937 G C SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.328 p.E110Q 0.005 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 53 17 23.94 36 0 0.00 CCDC66 285331 genome.wustl.edu 37 3 56627714 56627714 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 56627714 56627714 G A SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.1264 p.E422K 0.038 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 42 15 25.86 36 0 0.00 CCDC66 285331 genome.wustl.edu 37 3 56653391 56653391 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 56653391 56653391 G C SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.2471 p.R824T 0.929 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 35 15 30.00 59 0 0.00 CCDC67 159989 genome.wustl.edu 37 11 93104221 93104221 + Silent SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 11 93104221 93104221 C T SNP CCDC67 ENST00000298050 human ensembl 70_37 +1 known silent c.564 p.Y188 1.000 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 22 15 40.54 27 0 0.00 CCDC7 79741 genome.wustl.edu 37 10 32807383 32807383 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 32807383 32807383 G T SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known nonsense c.943 p.E315* 0.634 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 14 3 17.65 29 0 0.00 CCDC7 79741 genome.wustl.edu 37 10 32833221 32833221 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32833221 32833221 C G SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known missense c.1126 p.Q376E 0.377 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 12 6 33.33 10 0 0.00 CCDC7 79741 genome.wustl.edu 37 10 32854533 32854533 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 32854533 32854533 G A SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known silent c.1182 p.L394 0.612 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 47 17 26.56 69 0 0.00 CCDC71 64925 genome.wustl.edu 37 3 49201117 49201117 + Silent SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49201117 49201117 G A SNP CCDC71 ENST00000321895 human ensembl 70_37 -1 known silent c.525 p.L175 1.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 25 36 59.02 71 0 0.00 CCDC73 493860 genome.wustl.edu 37 11 32636423 32636423 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 32636423 32636423 G C SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.1441 p.Q481E 0.822 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 105 20 16.00 149 0 0.00 CCDC73 493860 genome.wustl.edu 37 11 32697502 32697502 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 32697502 32697502 C G SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.495 p.E165D 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 45 9 16.67 46 0 0.00 CCDC73 493860 genome.wustl.edu 37 11 32720835 32720835 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 32720835 32720835 C G SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.352 p.E118Q 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 36 30 45.45 83 0 0.00 CCDC74A 90557 genome.wustl.edu 37 2 132287646 132287646 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132287646 132287646 G A SNP CCDC74A ENST00000467992 human ensembl 70_37 +1 known silent c.96 p.L32 0.013 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 29 37 56.06 84 0 0.00 CCDC74A 90557 genome.wustl.edu 37 2 132288203 132288203 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 132288203 132288203 G A SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.347 p.R116H 0.000 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 16 4 20.00 21 0 0.00 CCDC74A 90557 genome.wustl.edu 37 2 132288337 132288337 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 132288337 132288337 C T SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.481 p.R161C 0.042 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 59 16 21.33 109 0 0.00 CCDC74A 90557 genome.wustl.edu 37 2 132288365 132288365 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 132288365 132288365 C T SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.509 p.S170L 0.002 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 55 17 23.61 39 0 0.00 CCDC74A 90557 genome.wustl.edu 37 2 132288392 132288392 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 132288392 132288392 C G SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.536 p.S179C 0.222 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 43 30 41.10 85 0 0.00 CCDC74B 91409 genome.wustl.edu 37 2 130899903 130899903 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 130899903 130899903 C T SNP CCDC74B ENST00000392984 human ensembl 70_37 -1 known missense c.653 p.R218H 0.001 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 39 6 13.33 43 0 0.00 CCDC74B 91409 genome.wustl.edu 37 2 130899945 130899945 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 130899945 130899945 G A SNP CCDC74B ENST00000392984 human ensembl 70_37 -1 known missense c.611 p.S204L 0.053 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 60 7 10.45 78 0 0.00 CCDC74B 91409 genome.wustl.edu 37 2 130900165 130900165 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 130900165 130900165 G A SNP CCDC74B ENST00000392984 human ensembl 70_37 -1 known missense c.391 p.L131F 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 68 8 10.53 74 0 0.00 CCDC74B 91409 genome.wustl.edu 37 2 130900839 130900839 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 130900839 130900839 C T SNP CCDC74B ENST00000409234 human ensembl 70_37 -1 putative missense c.298 p.E100K 0.607 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 20 22 52.38 87 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 498527 498527 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 498527 498527 G A SNP CCDC77 ENST00000537453 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CCDC77 HGNC ENSG00000120647 18 12 40.00 18 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 498568 498568 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 498568 498568 C G SNP CCDC77 ENST00000537453 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC77 HGNC ENSG00000120647 3 5 62.50 10 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 520915 520915 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 520915 520915 G A SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.41 p.R14Q 0.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 36 7 16.28 52 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 521075 521075 + Silent SNP T T G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 12 521075 521075 T G SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known silent c.201 p.A67 0.999 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 7 4 36.36 18 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 527686 527686 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 527686 527686 G C SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.297 p.Q99H 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 29 26 47.27 45 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 539854 539854 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 539854 539854 C T SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known nonsense c.535 p.Q179* 0.013 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 45 17 27.42 47 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 547595 547595 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 547595 547595 G A SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 14 10 41.67 26 0 0.00 CCDC77 84318 genome.wustl.edu 37 12 550094 550094 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 550094 550094 G C SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 73 16 17.98 83 0 0.00 CCDC78 124093 genome.wustl.edu 37 16 772971 772971 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 772971 772971 C T SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known silent c.1248 p.L416 0.998 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 12 16 57.14 33 0 0.00 CCDC78 124093 genome.wustl.edu 37 16 773855 773855 + Splice_Site SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 773855 773855 A G SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known splice_site c.1133+2 e11+2 0.989 - - - no_errors CCDC78 HGNC ENSG00000162004 18 6 25.00 16 0 0.00 CCDC78 124093 genome.wustl.edu 37 16 775082 775082 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 775082 775082 G A SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known missense c.556 p.R186C 0.000 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 34 18 34.62 81 0 0.00 CCDC78 124093 genome.wustl.edu 37 16 775574 775574 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 775574 775574 G A SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known missense c.274 p.R92W 0.421 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 24 6 20.00 32 0 0.00 CCDC79 283847 genome.wustl.edu 37 16 66788883 66788883 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 66788883 66788883 G T SNP CCDC79 ENST00000433154 human ensembl 70_37 -1 known missense c.2180 p.S727Y 0.129 NULL pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 30 30 50.00 62 0 0.00 CCDC79 283847 genome.wustl.edu 37 16 66822113 66822113 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 66822113 66822113 C G SNP CCDC79 ENST00000433154 human ensembl 70_37 -1 known missense c.359 p.R120T 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 28 8 22.22 44 0 0.00 CCDC8 83987 genome.wustl.edu 37 19 46915485 46915485 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 46915485 46915485 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.583 p.R195W 0.994 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 3 4 57.14 9 0 0.00 CCDC8 83987 genome.wustl.edu 37 19 46915956 46915956 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 46915956 46915956 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.112 p.R38W 1.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 22 12 35.29 30 0 0.00 CCDC8 83987 genome.wustl.edu 37 19 46915956 46915956 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 46915956 46915956 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.112 p.R38W 1.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 45 15 25.00 74 0 0.00 CCDC80 151887 genome.wustl.edu 37 3 112358468 112358468 + Silent SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 112358468 112358468 C A SNP CCDC80 ENST00000206423 human ensembl 70_37 -1 known silent c.285 p.S95 0.001 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 34 9 20.45 53 0 0.00 CCDC81 60494 genome.wustl.edu 37 11 86123534 86123534 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 86123534 86123534 A C SNP CCDC81 ENST00000445632 human ensembl 70_37 +1 known missense c.1324 p.N442H 0.960 NULL superfamily_IHF-like_DNA-bd - no_errors CCDC81 HGNC ENSG00000149201 3 7 70.00 26 0 0.00 CCDC81 60494 genome.wustl.edu 37 11 86126335 86126335 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 86126335 86126335 G C SNP CCDC81 ENST00000445632 human ensembl 70_37 +1 known missense c.1671 p.M557I 1.000 NULL superfamily_IHF-like_DNA-bd - no_errors CCDC81 HGNC ENSG00000149201 13 15 53.57 34 0 0.00 CCDC82 79780 genome.wustl.edu 37 11 96117183 96117183 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 96117183 96117183 G C SNP CCDC82 ENST00000278520 human ensembl 70_37 -1 known silent c.729 p.L243 0.339 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 48 28 36.84 56 0 0.00 CCDC83 220047 genome.wustl.edu 37 11 85627082 85627082 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 85627082 85627082 G A SNP CCDC83 ENST00000280245 human ensembl 70_37 +1 known missense c.979 p.E327K 0.000 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 26 16 38.10 30 0 0.00 CCDC83 220047 genome.wustl.edu 37 11 85627172 85627172 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 85627172 85627172 G A SNP CCDC83 ENST00000280245 human ensembl 70_37 +1 known missense c.1069 p.E357K 0.000 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 15 9 37.50 26 0 0.00 CCDC84 338657 genome.wustl.edu 37 11 118869204 118869204 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 118869204 118869204 G A SNP CCDC84 ENST00000334418 human ensembl 70_37 +1 known missense c.185 p.R62Q 0.245 NULL NULL - no_errors CCDC84 HGNC ENSG00000186166 23 17 41.46 44 0 0.00 CCDC85A 114800 genome.wustl.edu 37 2 56603037 56603037 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 56603037 56603037 C T SNP CCDC85A ENST00000407595 human ensembl 70_37 +1 known silent c.1539 p.S513 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 76 29 27.62 106 0 0.00 CCDC85A 114800 genome.wustl.edu 37 2 56603038 56603038 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 56603038 56603038 C T SNP CCDC85A ENST00000407595 human ensembl 70_37 +1 known nonsense c.1540 p.Q514* 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 75 29 27.88 106 0 0.00 CCDC85C 317762 genome.wustl.edu 37 14 100002419 100002419 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 100002419 100002419 G A SNP CCDC85C ENST00000380243 human ensembl 70_37 -1 known missense c.800 p.S267L 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85C HGNC ENSG00000205476 34 15 30.61 52 0 0.00 CCDC86 79080 genome.wustl.edu 37 11 60610305 60610305 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 60610305 60610305 G A SNP CCDC86 ENST00000227520 human ensembl 70_37 +1 known silent c.708 p.P236 0.012 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 16 7 30.43 45 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66358231 66358231 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358231 66358231 G A SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2256 p.F752 0.434 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 36 38 51.35 44 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66358234 66358234 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358234 66358234 G A SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2253 p.F751 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 36 36 50.00 45 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66358279 66358279 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66358279 66358279 C T SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2208 p.A736 0.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 46 15 24.59 37 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66358455 66358455 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358455 66358455 G T SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.2032 p.L678M 0.002 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 8 7 46.67 14 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66358496 66358496 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358496 66358496 C G SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.1991 p.G664A 0.000 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 8 6 42.86 15 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66359139 66359139 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66359139 66359139 C G SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.1348 p.D450H 0.141 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 25 15 37.50 31 0 0.00 CCDC87 55231 genome.wustl.edu 37 11 66360384 66360384 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 66360384 66360384 G C SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.103 p.Q35E 0.034 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 5 2 28.57 18 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55544890 55544890 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 55544890 55544890 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.3412 p.E1138K 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 72 35 32.41 94 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55544930 55544930 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 55544930 55544930 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.3372 p.Q1124H 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 26 6 18.75 22 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55561412 55561412 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55561412 55561412 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2545 p.D849H 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 52 13 20.00 23 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55561454 55561454 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55561454 55561454 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2503 p.E835K 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 46 13 22.03 28 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55561531 55561531 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 55561531 55561531 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2426 p.R809T 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 37 15 28.85 33 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55562045 55562045 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 55562045 55562045 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.1912 p.E638K 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 28 15 34.88 35 0 0.00 CCDC88A 55704 genome.wustl.edu 37 2 55563907 55563907 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 55563907 55563907 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known silent c.1566 p.Q522 1.000 pfam_HOOK,superfamily_t-SNARE pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 20 17 45.95 38 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64108934 64108934 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64108934 64108934 C T SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_HOOK pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 15 21 58.33 75 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64111690 64111690 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 64111690 64111690 G A SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.1677 p.E559 0.017 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 37 14 27.45 48 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64112488 64112488 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64112488 64112488 G A SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.2475 p.R825 0.968 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 21 10 32.26 32 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64112594 64112594 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 64112594 64112594 G A SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known missense c.2581 p.E861K 0.852 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 10 9 47.37 19 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64116887 64116887 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 64116887 64116887 G C SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known missense c.2701 p.E901Q 0.939 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 26 14 35.00 41 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64119016 64119016 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64119016 64119016 G C SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.3027 p.G1009 0.723 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 43 18 29.51 48 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64119761 64119761 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 64119761 64119761 C T SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known missense c.3259 p.R1087W 1.000 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 14 13 48.15 22 0 0.00 CCDC88B 283234 genome.wustl.edu 37 11 64124660 64124660 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64124660 64124660 A G SNP CCDC88B ENST00000359902 human ensembl 70_37 +1 known silent c.1839 p.G613 0.000 NULL NULL - no_errors CCDC88B HGNC ENSG00000168071 35 25 41.67 55 0 0.00 CCDC88C 440193 genome.wustl.edu 37 14 91808753 91808753 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 91808753 91808753 G A SNP CCDC88C ENST00000389857 human ensembl 70_37 -1 known nonsense c.454 p.Q152* 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 42 12 22.22 73 0 0.00 CCDC88C 440193 genome.wustl.edu 37 14 91850871 91850871 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91850871 91850871 C G SNP CCDC88C ENST00000554165 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors CCDC88C HGNC ENSG00000015133 23 6 20.69 25 0 0.00 CCDC9 26093 genome.wustl.edu 37 19 47764056 47764056 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 47764056 47764056 C T SNP CCDC9 ENST00000221922 human ensembl 70_37 +1 known missense c.422 p.S141F 0.997 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 21 8 27.59 59 0 0.00 CCDC9 26093 genome.wustl.edu 37 19 47774924 47774924 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47774924 47774924 G A SNP CCDC9 ENST00000221922 human ensembl 70_37 +1 known missense c.1585 p.E529K 0.879 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 13 3 18.75 23 0 0.00 MCUR1 63933 genome.wustl.edu 37 6 13807193 13807193 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 13807193 13807193 C T SNP CCDC90A ENST00000379170 human ensembl 70_37 -1 known missense c.499 p.D167N 1.000 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90A HGNC ENSG00000050393 132 29 18.01 215 0 0.00 CCDC90B 60492 genome.wustl.edu 37 11 82996675 82996675 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 82996675 82996675 G T SNP CCDC90B ENST00000525916 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CCDC90B HGNC ENSG00000137500 36 4 10.00 25 0 0.00 CCDC91 55297 genome.wustl.edu 37 12 28412327 28412327 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 28412327 28412327 G T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.990 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 53 22 29.33 71 0 0.00 CCDC91 55297 genome.wustl.edu 37 12 28459678 28459678 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 28459678 28459678 C T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.271 p.Q91* 1.000 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 8 10 55.56 11 0 0.00 CCDC91 55297 genome.wustl.edu 37 12 28544303 28544303 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 28544303 28544303 G C SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known missense c.721 p.E241Q 1.000 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 37 11 22.92 32 0 0.00 CCDC91 55297 genome.wustl.edu 37 12 28605543 28605543 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 28605543 28605543 C T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.1057 p.Q353* 0.995 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 138 28 16.87 45 0 0.00 CCDC92 80212 genome.wustl.edu 37 12 124421823 124421823 + Missense_Mutation SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 124421823 124421823 C G SNP CCDC92 ENST00000238156 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 19 5 20.83 21 0 0.00 CCDC92 80212 genome.wustl.edu 37 12 124428832 124428832 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124428832 124428832 C G SNP CCDC92 ENST00000238156 human ensembl 70_37 -1 known silent c.21 p.S7 0.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 21 9 30.00 37 0 0.00 CCDC93 54520 genome.wustl.edu 37 2 118694294 118694294 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 118694294 118694294 G T SNP CCDC93 ENST00000376300 human ensembl 70_37 -1 known missense c.1627 p.H543N 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 30 19 38.78 48 0 0.00 CCDC93 54520 genome.wustl.edu 37 2 118703126 118703126 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 118703126 118703126 C G SNP CCDC93 ENST00000376300 human ensembl 70_37 -1 known missense c.1329 p.L443F 0.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 27 11 28.95 63 0 0.00 CCDC93 54520 genome.wustl.edu 37 2 118709186 118709186 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 118709186 118709186 C T SNP CCDC93 ENST00000460781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC93 HGNC ENSG00000125633 17 5 22.73 23 0 0.00 CCDC94 55702 genome.wustl.edu 37 19 4262097 4262097 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4262097 4262097 G A SNP CCDC94 ENST00000262962 human ensembl 70_37 +1 known missense c.694 p.A232T 0.864 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 32 6 15.79 24 0 0.00 CCDC96 257236 genome.wustl.edu 37 4 7043586 7043586 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7043586 7043586 C T SNP CCDC96 ENST00000310085 human ensembl 70_37 -1 known silent c.1080 p.Q360 0.996 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 11 9 42.86 23 0 0.00 CCDC97 90324 genome.wustl.edu 37 19 41825618 41825618 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 41825618 41825618 G A SNP CCDC97 ENST00000269967 human ensembl 70_37 +1 known silent c.642 p.G214 0.119 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 38 20 34.48 70 0 0.00 CCHCR1 54535 genome.wustl.edu 37 6 31118560 31118560 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31118560 31118560 G A SNP CCHCR1 ENST00000396268 human ensembl 70_37 -1 known missense c.1043 p.S348F 0.001 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 28 14 33.33 40 0 0.00 CCHCR1 54535 genome.wustl.edu 37 6 31125293 31125293 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31125293 31125293 C T SNP CCHCR1 ENST00000396268 human ensembl 70_37 -1 known missense c.85 p.D29N 0.903 NULL pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 35 21 37.50 57 0 0.00 CCIN 881 genome.wustl.edu 37 9 36170051 36170051 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 36170051 36170051 C G SNP CCIN ENST00000335119 human ensembl 70_37 +1 known silent c.552 p.L184 0.989 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 25 40 61.54 50 0 0.00 CCK 885 genome.wustl.edu 37 3 42305093 42305093 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 42305093 42305093 C T SNP CCK ENST00000334681 human ensembl 70_37 -1 known silent c.30 p.L10 1.000 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors CCK HGNC ENSG00000187094 22 14 38.89 39 0 0.00 CCKAR 886 genome.wustl.edu 37 4 26491813 26491813 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 26491813 26491813 G A SNP CCKAR ENST00000295589 human ensembl 70_37 -1 known missense c.77 p.T26M 0.995 pfam_CholecystokininA_recpt_N,prints_Cholcy_rcpt_A pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 7 13 65.00 27 0 0.00 CCKBR 887 genome.wustl.edu 37 11 6291485 6291485 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6291485 6291485 G A SNP CCKBR ENST00000525462 human ensembl 70_37 +1 known missense c.571 p.V191M 0.928 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 31 6 16.22 34 0 0.00 CCKBR 887 genome.wustl.edu 37 11 6291978 6291978 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 6291978 6291978 C T SNP CCKBR ENST00000525462 human ensembl 70_37 +1 known silent c.756 p.D252 0.022 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 44 9 16.98 64 0 0.00 CCL15 6359 genome.wustl.edu 37 17 34325388 34325388 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 34325388 34325388 G A SNP CCL15 ENST00000354059 human ensembl 70_37 -1 known missense c.176 p.S59L 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL15 HGNC ENSG00000267596 53 18 25.35 44 0 0.00 CCL17 6361 genome.wustl.edu 37 16 57448995 57448995 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 57448995 57448995 C T SNP CCL17 ENST00000219244 human ensembl 70_37 +1 known nonsense c.73 p.R25* 0.969 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL17 HGNC ENSG00000102970 15 10 40.00 46 0 0.00 CCL2 6347 genome.wustl.edu 37 17 32582377 32582377 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 32582377 32582377 C A SNP CCL2 ENST00000225831 human ensembl 70_37 +1 known silent c.9 p.V3 0.974 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC ENSG00000108691 23 11 32.35 46 0 0.00 CCL22 6367 genome.wustl.edu 37 16 57397455 57397455 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 57397455 57397455 C A SNP CCL22 ENST00000219235 human ensembl 70_37 +1 known silent c.237 p.P79 0.924 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 - no_errors CCL22 HGNC ENSG00000102962 34 4 10.53 39 0 0.00 CCL23 6368 genome.wustl.edu 37 17 34340828 34340828 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 34340828 34340828 C G SNP CCL23 ENST00000293280 human ensembl 70_37 -1 known missense c.258 p.E86D 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 33 42 56.00 68 0 0.00 CCL23 6368 genome.wustl.edu 37 17 34340828 34340828 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 34340828 34340828 C G SNP CCL23 ENST00000293280 human ensembl 70_37 -1 known missense c.258 p.E86D 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 37 21 36.21 37 0 0.00 CCL23 6368 genome.wustl.edu 37 17 34340871 34340871 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 34340871 34340871 C T SNP CCL23 ENST00000293280 human ensembl 70_37 -1 known missense c.215 p.C72Y 0.999 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 26 19 42.22 30 0 0.00 CCM2 83605 genome.wustl.edu 37 7 45104112 45104112 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 45104112 45104112 C T SNP CCM2 ENST00000381112 human ensembl 70_37 +1 known silent c.402 p.L134 1.000 pfscan_PTyr_interaction_dom pfscan_PTyr_interaction_dom - no_errors CCM2 HGNC ENSG00000136280 25 22 46.81 36 0 0.00 CCM2 83605 genome.wustl.edu 37 7 45104163 45104163 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 45104163 45104163 C T SNP CCM2 ENST00000381112 human ensembl 70_37 +1 known silent c.453 p.I151 1.000 pfscan_PTyr_interaction_dom pfscan_PTyr_interaction_dom - no_errors CCM2 HGNC ENSG00000136280 25 22 46.81 35 0 0.00 CCM2L 140706 genome.wustl.edu 37 20 30605646 30605646 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 30605646 30605646 C T SNP CCM2L ENST00000300415 human ensembl 70_37 +1 known missense c.242 p.S81F 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 51 7 12.07 46 0 0.00 CCM2L 140706 genome.wustl.edu 37 20 30610588 30610588 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 30610588 30610588 C T SNP CCM2L ENST00000300415 human ensembl 70_37 +1 known silent c.1059 p.L353 0.985 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 70 26 27.08 79 0 0.00 CCNA1 8900 genome.wustl.edu 37 13 37006087 37006087 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 37006087 37006087 G A SNP CCNA1 ENST00000463403 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CCNA1 HGNC ENSG00000133101 40 24 37.50 69 0 0.00 CCNA1 8900 genome.wustl.edu 37 13 37007341 37007341 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 37007341 37007341 A T SNP CCNA1 ENST00000255465 human ensembl 70_37 +1 known missense c.280 p.R94W 0.979 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 21 16 43.24 56 0 0.00 CCNA1 8900 genome.wustl.edu 37 13 37014270 37014270 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 37014270 37014270 C T SNP CCNA1 ENST00000255465 human ensembl 70_37 +1 known nonsense c.1048 p.Q350* 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 32 10 23.81 49 0 0.00 CCNA2 890 genome.wustl.edu 37 4 122739202 122739202 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 122739202 122739202 G A SNP CCNA2 ENST00000274026 human ensembl 70_37 -1 known missense c.1247 p.S416L 0.894 pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC ENSG00000145386 19 9 32.14 33 0 0.00 CCNA2 890 genome.wustl.edu 37 4 122739207 122739207 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 122739207 122739207 T G SNP CCNA2 ENST00000274026 human ensembl 70_37 -1 known missense c.1242 p.K414N 0.664 pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC ENSG00000145386 13 14 51.85 35 0 0.00 CCNB1IP1 57820 genome.wustl.edu 37 14 20779661 20779661 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 20779661 20779661 C G SNP CCNB1IP1 ENST00000556204 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors CCNB1IP1 HGNC ENSG00000100814 16 5 23.81 15 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50028145 50028145 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50028145 50028145 G A SNP CCNB3 ENST00000491907 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCNB3 HGNC ENSG00000147082 33 9 21.43 50 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50028215 50028215 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50028215 50028215 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.52 p.Q18E 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 49 13 20.97 78 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50051745 50051745 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 50051745 50051745 G A SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known silent c.576 p.K192 0.002 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 5 16 76.19 47 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50052361 50052361 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 50052361 50052361 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.1192 p.L398V 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 21 5 19.23 27 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50052681 50052681 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50052681 50052681 G C SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.1512 p.L504F 0.009 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 61 13 17.57 66 0 0.00 CCNB3 85417 genome.wustl.edu 37 X 50054313 50054313 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 50054313 50054313 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.3144 p.F1048L 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 63 13 17.11 64 0 0.00 CCNC 892 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 70_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 27 6 18.18 19 0 0.00 CCNC 892 genome.wustl.edu 37 6 99997423 99997423 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 99997423 99997423 C G SNP CCNC ENST00000520429 human ensembl 70_37 -1 known missense c.559 p.D187H 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H - no_errors CCNC HGNC ENSG00000112237 12 14 53.85 55 0 0.00 CCNC 892 genome.wustl.edu 37 6 99997438 99997438 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 99997438 99997438 C T SNP CCNC ENST00000520429 human ensembl 70_37 -1 known missense c.544 p.D182N 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H - no_errors CCNC HGNC ENSG00000112237 10 14 58.33 50 0 0.00 CCND1 595 genome.wustl.edu 37 11 69466021 69466021 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 69466021 69466021 C A SNP CCND1 ENST00000227507 human ensembl 70_37 +1 known missense c.859 p.P287T 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 14 12 46.15 30 0 0.00 CCNE1 898 genome.wustl.edu 37 19 30314669 30314669 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 30314669 30314669 G T SNP CCNE1 ENST00000262643 human ensembl 70_37 +1 known silent c.1218 p.G406 0.110 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 49 11 18.33 58 0 0.00 CCNF 899 genome.wustl.edu 37 16 2487306 2487306 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 2487306 2487306 G C SNP CCNF ENST00000397066 human ensembl 70_37 +1 known missense c.523 p.E175Q 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 18 6 25.00 22 0 0.00 CCNF 899 genome.wustl.edu 37 16 2499399 2499399 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 16 2499399 2499399 C T SNP CCNF ENST00000397066 human ensembl 70_37 +1 known silent c.1335 p.S445 0.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 14 23 62.16 20 0 0.00 CCNF 899 genome.wustl.edu 37 16 2499869 2499869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 2499869 2499869 C A SNP CCNF ENST00000397066 human ensembl 70_37 +1 known missense c.1440 p.F480L 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 22 9 29.03 63 0 0.00 CCNF 899 genome.wustl.edu 37 16 2503298 2503298 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2503298 2503298 C T SNP CCNF ENST00000397066 human ensembl 70_37 +1 known silent c.1575 p.I525 1.000 pfam_Cyclin_C,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 51 19 27.14 33 0 0.00 CCNG2 901 genome.wustl.edu 37 4 78082672 78082672 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 78082672 78082672 G A SNP CCNG2 ENST00000316355 human ensembl 70_37 +1 known silent c.567 p.L189 0.998 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC ENSG00000138764 45 9 16.67 37 0 0.00 CCNG2 901 genome.wustl.edu 37 4 78082834 78082834 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 78082834 78082834 G A SNP CCNG2 ENST00000316355 human ensembl 70_37 +1 known silent c.639 p.L213 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC ENSG00000138764 76 27 26.21 84 0 0.00 CCNJ 54619 genome.wustl.edu 37 10 97816696 97816696 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 97816696 97816696 G A SNP CCNJ ENST00000419934 human ensembl 70_37 +1 known silent c.519 p.L173 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 61 13 17.57 62 0 0.00 CCNJ 54619 genome.wustl.edu 37 10 97820184 97820184 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97820184 97820184 A C SNP CCNJ ENST00000471424 human ensembl 70_37 +1 known rna NULL NULL 0.811 - - - no_errors CCNJ HGNC ENSG00000107443 21 12 36.36 49 0 0.00 CCNJL 79616 genome.wustl.edu 37 5 159680108 159680108 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 159680108 159680108 G A SNP CCNJL ENST00000377503 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCNJL HGNC ENSG00000135083 20 15 41.67 30 0 0.00 CCNJL 79616 genome.wustl.edu 37 5 159680542 159680542 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 159680542 159680542 G A SNP CCNJL ENST00000393977 human ensembl 70_37 -1 known missense c.1151 p.P384L 0.160 NULL pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 55 35 38.89 63 0 0.00 CCNJL 79616 genome.wustl.edu 37 5 159696530 159696530 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 159696530 159696530 G A SNP CCNJL ENST00000505287 human ensembl 70_37 -1 known missense c.437 p.S146F 0.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 50 19 27.54 74 0 0.00 CCNK 8812 genome.wustl.edu 37 14 99976674 99976674 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 99976674 99976674 C G SNP CCNK ENST00000389879 human ensembl 70_37 +1 known missense c.1298 p.S433C 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 19 11 36.67 30 0 0.00 CCNL1 57018 genome.wustl.edu 37 3 156866059 156866059 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 156866059 156866059 G C SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known missense c.1552 p.R518G 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 28 19 40.43 35 0 0.00 CCNL1 57018 genome.wustl.edu 37 3 156870834 156870834 + Silent SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156870834 156870834 A G SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known silent c.600 p.H200 0.999 superfamily_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 129 25 16.23 202 0 0.00 CCNL1 57018 genome.wustl.edu 37 3 156870923 156870923 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 156870923 156870923 C T SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 83 16 16.16 49 0 0.00 CCNL1 57018 genome.wustl.edu 37 3 156877263 156877263 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156877263 156877263 C G SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known silent c.309 p.A103 0.999 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 31 6 16.22 36 0 0.00 CCNL2 81669 genome.wustl.edu 37 1 1322818 1322818 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 1322818 1322818 G A SNP CCNL2 ENST00000400809 human ensembl 70_37 -1 known silent c.1356 p.C452 1.000 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 24 5 17.24 28 0 0.00 CCNL2 81669 genome.wustl.edu 37 1 1333624 1333624 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 1333624 1333624 C G SNP CCNL2 ENST00000425598 human ensembl 70_37 -1 known missense c.493 p.E165Q 0.152 NULL NULL - no_errors CCNL2 HGNC ENSG00000221978 47 22 31.88 76 0 0.00 CCNO 10309 genome.wustl.edu 37 5 54527209 54527209 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 54527209 54527209 C T SNP CCNO ENST00000282572 human ensembl 70_37 -1 known silent c.1047 p.S349 0.098 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC ENSG00000152669 20 9 31.03 45 0 0.00 CCNO 10309 genome.wustl.edu 37 5 54529143 54529143 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 54529143 54529143 C T SNP CCNO ENST00000282572 human ensembl 70_37 -1 known missense c.209 p.G70D 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC ENSG00000152669 37 25 40.32 24 0 0.00 CCNT1 904 genome.wustl.edu 37 12 49088062 49088062 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 49088062 49088062 G C SNP CCNT1 ENST00000261900 human ensembl 70_37 -1 known missense c.935 p.S312C 0.967 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 67 10 12.82 79 0 0.00 CCNT1 904 genome.wustl.edu 37 12 49091968 49091969 + Splice_Site INS - - A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 49091968 49091969 - A INS CCNT1 ENST00000261900 human ensembl 70_37 -1 known splice_site_ins c.497-3_497-2 e6-2 1.000:0.991 - - - no_errors CCNT1 HGNC ENSG00000129315 31 8 20.51 13 0 0.00 CCNT1 904 genome.wustl.edu 37 12 49093609 49093609 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 49093609 49093609 T C SNP CCNT1 ENST00000261900 human ensembl 70_37 -1 known missense c.448 p.I150V 1.000 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 18 25 58.14 71 0 0.00 CCNT2 905 genome.wustl.edu 37 2 135710843 135710843 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135710843 135710843 C G SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known nonsense c.818 p.S273* 0.997 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 65 32 32.99 48 0 0.00 CCNT2 905 genome.wustl.edu 37 2 135710948 135710948 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135710948 135710948 C G SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.923 p.A308G 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 68 22 24.44 42 0 0.00 CCNT2 905 genome.wustl.edu 37 2 135711370 135711370 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 135711370 135711370 G C SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.1345 p.D449H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 3 4 57.14 12 0 0.00 CCNT2 905 genome.wustl.edu 37 2 135711875 135711875 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 135711875 135711875 C T SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.1850 p.S617L 0.997 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 19 11 36.67 29 0 0.00 CCNY 219771 genome.wustl.edu 37 10 35818947 35818947 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 35818947 35818947 C T SNP CCNY ENST00000374704 human ensembl 70_37 +1 known missense c.448 p.H150Y 1.000 superfamily_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC ENSG00000108100 355 70 16.47 282 0 0.00 CCNYL2 414194 genome.wustl.edu 37 10 42950057 42950057 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 42950057 42950057 C T SNP CCNYL2 ENST00000472090 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors CCNYL2 HGNC ENSG00000182632 12 6 33.33 17 0 0.00 CCP110 9738 genome.wustl.edu 37 16 19548708 19548708 + Missense_Mutation SNP A A T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 19548708 19548708 A T SNP CCP110 ENST00000381396 human ensembl 70_37 +1 known missense c.1717 p.N573Y 0.566 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 26 11 29.73 29 0 0.00 CCP110 9738 genome.wustl.edu 37 16 19553321 19553321 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 19553321 19553321 C G SNP CCP110 ENST00000381396 human ensembl 70_37 +1 known missense c.2162 p.S721C 0.426 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 33 5 13.16 34 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55651779 55651779 + Frame_Shift_Del DEL C C - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 55651779 55651779 C - DEL CCPG1 ENST00000310958 human ensembl 70_37 -1 known frame_shift_del c.2192 p.R731fs 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 20 3 13.04 66 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55652788 55652788 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 55652788 55652788 C A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.1183 p.A395S 0.690 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 107 27 20.15 118 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55653051 55653051 + Missense_Mutation SNP T T A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 55653051 55653051 T A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.920 p.N307I 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 28 4 12.50 27 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55664079 55664079 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 55664079 55664079 C G SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.618 p.L206F 0.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 16 3 15.79 41 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55664134 55664134 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 55664134 55664134 G A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.563 p.S188L 0.912 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 80 26 24.53 82 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55669316 55669316 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 55669316 55669316 G A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known silent c.285 p.I95 0.998 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 27 4 12.90 41 0 0.00 CCPG1 9236 genome.wustl.edu 37 15 55677852 55677852 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 55677852 55677852 C T SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.121 p.E41K 0.125 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 68 27 28.42 127 0 0.00 CCR1 1230 genome.wustl.edu 37 3 46244783 46244783 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 46244783 46244783 G C SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.1022 p.S341C 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 21 16 43.24 36 0 0.00 CCR1 1230 genome.wustl.edu 37 3 46244879 46244879 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 46244879 46244879 C T SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.926 p.R309Q 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 58 8 12.12 41 0 0.00 CCR1 1230 genome.wustl.edu 37 3 46245498 46245498 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46245498 46245498 C T SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.307 p.D103N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 25 17 40.48 49 0 0.00 CCR2 729230 genome.wustl.edu 37 3 46398967 46398967 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 46398967 46398967 G C SNP CCR2 ENST00000292301 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 0.192 - - - no_errors CCR2 HGNC ENSG00000121807 29 11 26.83 25 0 0.00 CCR3 1232 genome.wustl.edu 37 3 46306660 46306660 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 46306660 46306660 C T SNP CCR3 ENST00000545097 human ensembl 70_37 +1 known missense c.74 p.S25L 0.000 prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor - no_errors CCR3 HGNC ENSG00000183625 56 16 22.22 58 0 0.00 CCR4 1233 genome.wustl.edu 37 3 32994926 32994926 + Silent SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 3 32994926 32994926 G A SNP CCR4 ENST00000330953 human ensembl 70_37 +1 known silent c.12 p.T4 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 35 23 39.66 58 0 0.00 CCR4 1233 genome.wustl.edu 37 3 32995016 32995016 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 32995016 32995016 C G SNP CCR4 ENST00000330953 human ensembl 70_37 +1 known missense c.102 p.I34M 0.955 prints_Chemokine_CCR4,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 48 16 25.00 69 0 0.00 CCR4 1233 genome.wustl.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 32995849 32995849 G A SNP CCR4 ENST00000330953 human ensembl 70_37 +1 known missense c.935 p.R312H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 9 26 72.22 28 0 0.00 CCR5 1234 genome.wustl.edu 37 3 46415353 46415353 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46415353 46415353 C T SNP CCR5 ENST00000292303 human ensembl 70_37 +1 known silent c.960 p.F320 0.531 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 34 13 27.66 29 0 0.00 CCR6 1235 genome.wustl.edu 37 6 167550050 167550050 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 167550050 167550050 G T SNP CCR6 ENST00000341935 human ensembl 70_37 +1 known missense c.332 p.W111L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXC/IL8_rcpt - no_errors CCR6 HGNC ENSG00000112486 10 3 23.08 18 0 0.00 CCR7 1236 genome.wustl.edu 37 17 38711120 38711120 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 38711120 38711120 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known silent c.1011 p.L337 0.991 pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC ENSG00000126353 10 3 23.08 30 0 0.00 CCR7 1236 genome.wustl.edu 37 17 38711534 38711534 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 38711534 38711534 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known silent c.597 p.L199 0.197 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC ENSG00000126353 13 4 23.53 32 0 0.00 CCR7 1236 genome.wustl.edu 37 17 38711879 38711879 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 38711879 38711879 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known missense c.252 p.I84M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC ENSG00000126353 41 6 12.50 80 0 0.00 CCR8 1237 genome.wustl.edu 37 3 39374093 39374093 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 39374093 39374093 C A SNP CCR8 ENST00000326306 human ensembl 70_37 +1 known missense c.271 p.Q91K 0.958 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC ENSG00000179934 197 46 18.93 213 0 0.00 CCR8 1237 genome.wustl.edu 37 3 39374122 39374122 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 39374122 39374122 G A SNP CCR8 ENST00000414803 human ensembl 70_37 +1 putative missense c.127 p.V43I 0.969 NULL NULL - no_errors CCR8 HGNC ENSG00000179934 185 32 14.75 170 0 0.00 CCR9 10803 genome.wustl.edu 37 3 45942323 45942323 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 45942323 45942323 G A SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known missense c.43 p.D15N 0.805 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 56 28 33.33 57 0 0.00 CCR9 10803 genome.wustl.edu 37 3 45942736 45942736 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 45942736 45942736 G A SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known missense c.456 p.M152I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 46 24 34.29 111 0 0.00 CCR9 10803 genome.wustl.edu 37 3 45942949 45942949 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 45942949 45942949 C T SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known silent c.669 p.F223 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR11 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 30 21 41.18 43 0 0.00 ACKR4 51554 genome.wustl.edu 37 3 132319907 132319907 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 132319907 132319907 C T SNP CCRL1 ENST00000249887 human ensembl 70_37 +1 known silent c.666 p.I222 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR11,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CCRL1 HGNC ENSG00000129048 111 52 31.90 129 0 0.00 CCRL2 9034 genome.wustl.edu 37 3 46450134 46450134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46450134 46450134 C G SNP CCRL2 ENST00000357392 human ensembl 70_37 +1 known missense c.600 p.F200L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCRL2 HGNC ENSG00000121797 29 28 49.12 54 0 0.00 CCRN4L 25819 genome.wustl.edu 37 4 139966097 139966097 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 139966097 139966097 G A SNP CCRN4L ENST00000280614 human ensembl 70_37 +1 known silent c.765 p.L255 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 27 11 28.95 18 0 0.00 CCRN4L 25819 genome.wustl.edu 37 4 139966404 139966404 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 139966404 139966404 G A SNP CCRN4L ENST00000280614 human ensembl 70_37 +1 known missense c.1072 p.E358K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 53 17 24.29 32 0 0.00 CCS 9973 genome.wustl.edu 37 11 66366699 66366699 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 66366699 66366699 C G SNP CCS ENST00000533244 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom - no_errors CCS HGNC ENSG00000173992 57 28 32.94 97 0 0.00 CCSAP 126731 genome.wustl.edu 37 1 229460177 229460177 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 229460177 229460177 A - DEL CCSAP ENST00000483092 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CCSAP HGNC ENSG00000154429 27 4 12.90 26 0 0.00 CCSAP 126731 genome.wustl.edu 37 1 229462517 229462517 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 229462517 229462517 G A SNP CCSAP ENST00000284617 human ensembl 70_37 -1 known missense c.604 p.H202Y 1.000 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 44 27 37.50 91 0 0.00 CCSAP 126731 genome.wustl.edu 37 1 229462799 229462799 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229462799 229462799 T G SNP CCSAP ENST00000483092 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCSAP HGNC ENSG00000154429 12 5 29.41 29 0 0.00 CCT2 10576 genome.wustl.edu 37 12 69987309 69987309 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 69987309 69987309 C T SNP CCT2 ENST00000299300 human ensembl 70_37 +1 known missense c.898 p.P300S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 82 17 17.17 122 0 0.00 CCT2 10576 genome.wustl.edu 37 12 69991758 69991758 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 69991758 69991758 G C SNP CCT2 ENST00000299300 human ensembl 70_37 +1 known missense c.1242 p.E414D 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 24 4 14.29 18 0 0.00 CCT3 7203 genome.wustl.edu 37 1 156278946 156278946 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156278946 156278946 G A SNP CCT3 ENST00000465714 human ensembl 70_37 -1 known rna NULL NULL 0.061 - - - no_errors CCT3 HGNC ENSG00000163468 32 10 23.81 25 0 0.00 CCT3 7203 genome.wustl.edu 37 1 156288730 156288730 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156288730 156288730 G A SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known missense c.688 p.R230W 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 28 5 15.15 44 0 0.00 CCT3 7203 genome.wustl.edu 37 1 156290680 156290680 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156290680 156290680 C A SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known nonsense c.559 p.E187* 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 26 8 23.53 20 0 0.00 CCT3 7203 genome.wustl.edu 37 1 156290801 156290801 + Silent SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 156290801 156290801 G T SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known silent c.438 p.I146 0.119 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 91 26 22.22 84 0 0.00 CCT3 7203 genome.wustl.edu 37 1 156308088 156308088 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156308088 156308088 C G SNP CCT3 ENST00000368256 human ensembl 70_37 -1 known rna NULL NULL 0.076 - - - no_errors CCT3 HGNC ENSG00000163468 54 14 20.59 33 0 0.00 CCT5 22948 genome.wustl.edu 37 5 10261015 10261015 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 10261015 10261015 G A SNP CCT5 ENST00000280326 human ensembl 70_37 +1 known missense c.985 p.E329K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 47 18 27.69 45 0 0.00 CCT5 22948 genome.wustl.edu 37 5 10264873 10264873 + Missense_Mutation SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 10264873 10264873 A G SNP CCT5 ENST00000280326 human ensembl 70_37 +1 known missense c.1604 p.K535R 1.000 superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 26 4 12.90 33 0 0.00 CCT6A 908 genome.wustl.edu 37 7 56122148 56122148 + Silent SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 7 56122148 56122148 C G SNP CCT6A ENST00000275603 human ensembl 70_37 +1 known silent c.288 p.V96 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 941 132 12.27 209 0 0.00 CCT6A 908 genome.wustl.edu 37 7 56122192 56122192 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 7 56122192 56122192 C G SNP CCT6A ENST00000275603 human ensembl 70_37 +1 known missense c.332 p.S111C 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 727 109 13.04 158 0 0.00 CCT6A 908 genome.wustl.edu 37 7 56124052 56124052 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 56124052 56124052 G A SNP CCT6A ENST00000275603 human ensembl 70_37 +1 known missense c.559 p.D187N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 50 16 24.24 104 0 0.00 CCT6B 10693 genome.wustl.edu 37 17 33266229 33266229 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33266229 33266229 G A SNP CCT6B ENST00000314144 human ensembl 70_37 -1 known missense c.1186 p.R396C 0.998 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 256 78 23.35 279 0 0.00 CCT6B 10693 genome.wustl.edu 37 17 33267634 33267634 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 33267634 33267634 C G SNP CCT6B ENST00000314144 human ensembl 70_37 -1 known missense c.892 p.D298H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 5 7 58.33 28 0 0.00 CCT6P1 643253 genome.wustl.edu 37 7 65224225 65224225 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 65224225 65224225 G A SNP CCT6P1 ENST00000442266 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P1 HGNC ENSG00000228409 84 41 32.80 94 0 0.00 CCT6P1 643253 genome.wustl.edu 37 7 65228309 65228309 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 65228309 65228309 C G SNP CCT6P1 ENST00000442266 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors CCT6P1 HGNC ENSG00000228409 243 37 13.21 224 1 0.44 CCT6P3 643180 genome.wustl.edu 37 7 64526697 64526697 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 64526697 64526697 G A SNP CCT6P3 ENST00000426828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 48 48 50.00 83 0 0.00 CCT6P3 643180 genome.wustl.edu 37 7 64526724 64526724 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 64526724 64526724 G A SNP CCT6P3 ENST00000426828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 46 29 38.67 95 0 0.00 CCT7 10574 genome.wustl.edu 37 2 73479988 73479988 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 73479988 73479988 G A SNP CCT7 ENST00000258091 human ensembl 70_37 +1 known silent c.1631 p.*544 1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 29 10 25.64 36 0 0.00 CCT8 10694 genome.wustl.edu 37 21 30434718 30434718 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 30434718 30434718 C G SNP CCT8 ENST00000286788 human ensembl 70_37 -1 known missense c.1027 p.E343Q 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 27 20 42.55 40 0 0.00 CCT8 10694 genome.wustl.edu 37 21 30439221 30439221 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 30439221 30439221 G C SNP CCT8 ENST00000286788 human ensembl 70_37 -1 known missense c.553 p.Q185E 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 43 8 15.38 34 0 0.00 CCZ1 51622 genome.wustl.edu 37 7 5963465 5963465 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5963465 5963465 G A SNP CCZ1 ENST00000325974 human ensembl 70_37 +1 known splice_site c.1266-1 e14-1 1.000 - - - no_errors CCZ1 HGNC ENSG00000122674 25 31 55.36 41 0 0.00 CCZ1 51622 genome.wustl.edu 37 7 5963473 5963473 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5963473 5963473 G A SNP CCZ1 ENST00000325974 human ensembl 70_37 +1 known missense c.1273 p.E425K 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 24 27 52.94 33 0 0.00 CCZ1B 221960 genome.wustl.edu 37 7 6859533 6859533 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6859533 6859533 C A SNP CCZ1B ENST00000316731 human ensembl 70_37 -1 known missense c.562 p.D188Y 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 52 15 22.39 69 0 0.00 CCZ1B 221960 genome.wustl.edu 37 7 6864357 6864357 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 6864357 6864357 C T SNP CCZ1B ENST00000316731 human ensembl 70_37 -1 known silent c.132 p.K44 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 27 9 25.00 27 0 0.00 CD101 9398 genome.wustl.edu 37 1 117544453 117544453 + Nonsense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 117544453 117544453 C G SNP CD101 ENST00000256652 human ensembl 70_37 +1 known nonsense c.14 p.S5* 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC ENSG00000134256 20 19 48.72 56 0 0.00 CD101 9398 genome.wustl.edu 37 1 117556245 117556246 + Frame_Shift_Del DEL AA AA - TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 117556245 117556246 AA - DEL CD101 ENST00000256652 human ensembl 70_37 +1 known frame_shift_del c.1059_1060 p.K354fs 0.849:0.991 smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC ENSG00000134256 64 10 13.51 96 0 0.00 CD101 9398 genome.wustl.edu 37 1 117559730 117559730 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 117559730 117559730 C T SNP CD101 ENST00000256652 human ensembl 70_37 +1 known missense c.1247 p.S416F 0.146 pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC ENSG00000134256 23 12 34.29 33 0 0.00 CD109 135228 genome.wustl.edu 37 6 74477947 74477947 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 74477947 74477947 A G SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.1667 p.K556R 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 32 4 11.11 43 0 0.00 CD109 135228 genome.wustl.edu 37 6 74492449 74492449 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74492449 74492449 G T SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.2076 p.E692D 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 15 6 28.57 38 0 0.00 CD109 135228 genome.wustl.edu 37 6 74517881 74517881 + Missense_Mutation SNP C C G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 74517881 74517881 C G SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.3265 p.L1089V 0.726 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 17 9 33.33 26 0 0.00 CD109 135228 genome.wustl.edu 37 6 74519827 74519827 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74519827 74519827 C T SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.3476 p.S1159F 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 18 12 40.00 26 0 0.00 CD14 929 genome.wustl.edu 37 5 140011843 140011843 + Silent SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 5 140011843 140011843 G A SNP CD14 ENST00000302014 human ensembl 70_37 -1 known silent c.726 p.A242 0.000 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 24 22 47.83 35 0 0.00 CD14 929 genome.wustl.edu 37 5 140011944 140011944 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140011944 140011944 C T SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.625 p.E209K 0.701 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 34 18 34.62 56 0 0.00 CD14 929 genome.wustl.edu 37 5 140011947 140011947 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140011947 140011947 C A SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.622 p.G208C 0.657 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 43 9 17.31 104 1 0.95 CD14 929 genome.wustl.edu 37 5 140012163 140012163 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140012163 140012163 G A SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.406 p.P136S 0.098 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 30 7 18.92 53 0 0.00 CD151 977 genome.wustl.edu 37 11 836354 836354 + Missense_Mutation SNP T T G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 836354 836354 T G SNP CD151 ENST00000322008 human ensembl 70_37 +1 known missense c.188 p.I63S 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 18 23 56.10 62 0 0.00 CD160 11126 genome.wustl.edu 37 1 145698917 145698917 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145698917 145698917 C T SNP CD160 ENST00000369290 human ensembl 70_37 -1 known missense c.247 p.E83K 0.000 NULL NULL - no_errors CD160 HGNC ENSG00000117281 71 15 17.44 56 0 0.00 CD163 9332 genome.wustl.edu 37 12 7633798 7633798 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 7633798 7633798 G A SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.3302 p.S1101F 0.984 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 100 27 21.26 125 0 0.00 CD163 9332 genome.wustl.edu 37 12 7637945 7637945 + Silent SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 7637945 7637945 A G SNP CD163 ENST00000359156 human ensembl 70_37 -1 known silent c.2526 p.F842 0.994 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 119 58 32.77 162 0 0.00 CD163 9332 genome.wustl.edu 37 12 7640251 7640251 + Missense_Mutation SNP A A C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 7640251 7640251 A C SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.1754 p.L585W 0.116 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 43 39 47.56 36 0 0.00 CD163 9332 genome.wustl.edu 37 12 7640557 7640557 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 7640557 7640557 C T SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.1547 p.C516Y 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 44 14 24.14 47 0 0.00 CD163 9332 genome.wustl.edu 37 12 7640635 7640635 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 7640635 7640635 C T SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.1469 p.R490H 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 12 17 58.62 19 0 0.00 CD163L1 283316 genome.wustl.edu 37 12 7526002 7526002 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 7526002 7526002 G A SNP CD163L1 ENST00000313599 human ensembl 70_37 -1 known missense c.3644 p.T1215M 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 55 21 27.63 38 0 0.00 CD163L1 283316 genome.wustl.edu 37 12 7550886 7550886 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7550886 7550886 C A SNP CD163L1 ENST00000313599 human ensembl 70_37 -1 known missense c.1703 p.R568I 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 33 9 21.43 59 0 0.00 CD164 8763 genome.wustl.edu 37 6 109703435 109703435 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 109703435 109703435 G A SNP CD164 ENST00000310786 human ensembl 70_37 -1 known silent c.147 p.S49 0.000 pfam_CD164_MGC24 pfam_CD164_MGC24,prints_CD164_MGC24 - no_errors CD164 HGNC ENSG00000135535 135 22 14.01 129 0 0.00 CD164L2 388611 genome.wustl.edu 37 1 27709014 27709014 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 27709014 27709014 C G SNP CD164L2 ENST00000374030 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.985 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 24 3 11.11 30 0 0.00 CD164L2 388611 genome.wustl.edu 37 1 27709027 27709027 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27709027 27709027 G A SNP CD164L2 ENST00000374030 human ensembl 70_37 -1 known silent c.219 p.S73 0.073 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 17 16 48.48 19 0 0.00 CD164L2 388611 genome.wustl.edu 37 1 27709084 27709084 + Nonsense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 27709084 27709084 G T SNP CD164L2 ENST00000374030 human ensembl 70_37 -1 known nonsense c.162 p.C54* 0.918 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 30 4 11.76 31 0 0.00 CD177 57126 genome.wustl.edu 37 19 43858504 43858504 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 43858504 43858504 C T SNP CD177 ENST00000378009 human ensembl 70_37 +1 known silent c.339 p.L113 0.000 NULL pfam_LY6_UPAR - no_errors CD177 HGNC ENSG00000204936 19 7 26.92 32 0 0.00 CD180 4064 genome.wustl.edu 37 5 66478749 66478749 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 66478749 66478749 A G SNP CD180 ENST00000256447 human ensembl 70_37 -1 known missense c.1922 p.L641S 0.010 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 13 10 43.48 48 0 0.00 CD180 4064 genome.wustl.edu 37 5 66479484 66479484 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 5 66479484 66479484 G A SNP CD180 ENST00000256447 human ensembl 70_37 -1 known missense c.1187 p.S396F 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 104 43 29.05 138 0 0.00 CD19 930 genome.wustl.edu 37 16 28950043 28950043 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 28950043 28950043 C G SNP CD19 ENST00000538922 human ensembl 70_37 +1 known silent c.1536 p.P512 1.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 37 8 17.78 48 0 0.00 CD19 930 genome.wustl.edu 37 16 28950050 28950050 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 28950050 28950050 C A SNP CD19 ENST00000538922 human ensembl 70_37 +1 known missense c.1543 p.R515S 0.960 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 25 21 45.65 41 0 0.00 CD1A 909 genome.wustl.edu 37 1 158226066 158226066 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 158226066 158226066 C T SNP CD1A ENST00000289429 human ensembl 70_37 +1 known missense c.598 p.R200W 0.000 superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC ENSG00000158477 38 35 47.95 97 0 0.00 CD1A 909 genome.wustl.edu 37 1 158226847 158226847 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158226847 158226847 C T SNP CD1A ENST00000289429 human ensembl 70_37 +1 known silent c.876 p.L292 0.942 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC ENSG00000158477 27 20 42.55 36 0 0.00 CD1A 909 genome.wustl.edu 37 1 158227233 158227233 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 158227233 158227233 C G SNP CD1A ENST00000289429 human ensembl 70_37 +1 known missense c.906 p.F302L 0.003 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC ENSG00000158477 97 47 32.64 145 0 0.00 CD1B 910 genome.wustl.edu 37 1 158300813 158300813 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158300813 158300813 G A SNP CD1B ENST00000368168 human ensembl 70_37 -1 known missense c.101 p.S34L 0.005 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1B HGNC ENSG00000158485 22 11 33.33 42 0 0.00 CD1D 912 genome.wustl.edu 37 1 158151385 158151385 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 158151385 158151385 C T SNP CD1D ENST00000368171 human ensembl 70_37 +1 known silent c.202 p.L68 0.025 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1D HGNC ENSG00000158473 35 13 27.08 69 0 0.00 CD1E 913 genome.wustl.edu 37 1 158325178 158325178 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 158325178 158325178 G C SNP CD1E ENST00000368167 human ensembl 70_37 +1 known silent c.444 p.L148 1.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 22 3 12.00 55 0 0.00 CD1E 913 genome.wustl.edu 37 1 158325754 158325754 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 158325754 158325754 C T SNP CD1E ENST00000368167 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 0.284 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 44 40 47.62 97 0 0.00 CD1E 913 genome.wustl.edu 37 1 158325832 158325832 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 158325832 158325832 G T SNP CD1E ENST00000368167 human ensembl 70_37 +1 known missense c.841 p.A281S 0.043 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 26 14 35.00 73 0 0.00 CD200 4345 genome.wustl.edu 37 3 112066545 112066545 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 112066545 112066545 C G SNP CD200 ENST00000473539 human ensembl 70_37 +1 known missense c.637 p.H213D 0.018 pfam_Immunoglobulin pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD200 HGNC ENSG00000091972 61 12 16.44 49 0 0.00 CD200R1 131450 genome.wustl.edu 37 3 112642643 112642643 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 112642643 112642643 C T SNP CD200R1 ENST00000308611 human ensembl 70_37 -1 known missense c.928 p.E310K 1.000 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1 HGNC ENSG00000163606 78 19 19.59 106 0 0.00 CD200R1L 344807 genome.wustl.edu 37 3 112534815 112534815 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 112534815 112534815 G T SNP CD200R1L ENST00000398214 human ensembl 70_37 -1 known missense c.811 p.L271I 0.001 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC ENSG00000206531 6 7 53.85 26 0 0.00 CD207 50489 genome.wustl.edu 37 2 71058944 71058944 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 71058944 71058944 G A SNP CD207 ENST00000410009 human ensembl 70_37 -1 known silent c.724 p.L242 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 41 21 33.87 52 0 0.00 CD22 933 genome.wustl.edu 37 19 35823807 35823807 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 35823807 35823807 G A SNP CD22 ENST00000085219 human ensembl 70_37 +1 known missense c.392 p.R131Q 0.000 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 9 14 60.87 28 0 0.00 CD22 933 genome.wustl.edu 37 19 35836524 35836524 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 35836524 35836524 C G SNP CD22 ENST00000085219 human ensembl 70_37 +1 known missense c.2228 p.S743C 0.001 NULL pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 66 14 17.50 119 0 0.00 CD22 933 genome.wustl.edu 37 19 35837090 35837090 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 35837090 35837090 G A SNP CD22 ENST00000544992 human ensembl 70_37 +1 novel missense c.2245 p.G749R 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 19 6 23.08 32 0 0.00 CD226 10666 genome.wustl.edu 37 18 67534613 67534613 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 67534613 67534613 C G SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.865 p.E289Q 0.003 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC ENSG00000150637 33 33 50.00 99 0 0.00 CD226 10666 genome.wustl.edu 37 18 67563262 67563262 + Silent SNP C C A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 18 67563262 67563262 C A SNP CD226 ENST00000280200 human ensembl 70_37 -1 known silent c.402 p.V134 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC ENSG00000150637 13 4 23.53 38 0 0.00 CD226 10666 genome.wustl.edu 37 18 67614101 67614101 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67614101 67614101 G A SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.251 p.S84L 0.010 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC ENSG00000150637 30 18 37.50 25 0 0.00 CD226 10666 genome.wustl.edu 37 18 67614259 67614259 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 67614259 67614259 C G SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.93 p.E31D 0.985 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC ENSG00000150637 96 36 27.27 153 0 0.00 CD244 51744 genome.wustl.edu 37 1 160801171 160801171 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 160801171 160801171 C T SNP CD244 ENST00000368033 human ensembl 70_37 -1 known missense c.1079 p.R360H 0.803 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC ENSG00000122223 20 4 16.67 35 0 0.00 CD244 51744 genome.wustl.edu 37 1 160811119 160811119 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 160811119 160811119 T C SNP CD244 ENST00000368033 human ensembl 70_37 -1 known missense c.551 p.Y184C 0.000 pfscan_Ig-like pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC ENSG00000122223 142 77 35.16 188 1 0.52 CD244 51744 genome.wustl.edu 37 1 160811119 160811119 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 160811119 160811119 T C SNP CD244 ENST00000368033 human ensembl 70_37 -1 known missense c.551 p.Y184C 0.000 pfscan_Ig-like pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like - no_errors CD244 HGNC ENSG00000122223 36 19 33.93 27 0 0.00 CD247 919 genome.wustl.edu 37 1 167404653 167404653 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 167404653 167404653 G T SNP CD247 ENST00000362089 human ensembl 70_37 -1 known missense c.319 p.Q107K 0.220 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 34 18 34.62 64 0 0.00 CD247 919 genome.wustl.edu 37 1 167487676 167487676 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 167487676 167487676 C T SNP CD247 ENST00000362089 human ensembl 70_37 -1 known silent c.27 p.A9 0.000 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 76 13 14.61 121 0 0.00 CD248 57124 genome.wustl.edu 37 11 66082697 66082697 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 66082697 66082697 G C SNP CD248 ENST00000311330 human ensembl 70_37 -1 known missense c.1802 p.S601C 0.037 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 41 20 32.26 50 0 0.00 CD27 939 genome.wustl.edu 37 12 6554686 6554686 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 6554686 6554686 G A SNP CD27 ENST00000266557 human ensembl 70_37 +1 known missense c.233 p.R78Q 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 59 7 10.61 59 0 0.00 CD27 939 genome.wustl.edu 37 12 6559377 6559377 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 6559377 6559377 G C SNP CD27 ENST00000266557 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.053 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 52 6 10.34 55 0 0.00 CD274 29126 genome.wustl.edu 37 9 5466819 5466819 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5466819 5466819 G T SNP CD274 ENST00000381577 human ensembl 70_37 +1 known missense c.840 p.K280N 0.492 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD274 HGNC ENSG00000120217 14 4 22.22 27 0 0.00 CD2AP 23607 genome.wustl.edu 37 6 47577036 47577036 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 47577036 47577036 C G SNP CD2AP ENST00000359314 human ensembl 70_37 +1 known missense c.1810 p.H604D 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 14 9 39.13 27 0 0.00 CD2BP2 10421 genome.wustl.edu 37 16 30365041 30365041 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 30365041 30365041 C T SNP CD2BP2 ENST00000305596 human ensembl 70_37 -1 known missense c.456 p.M152I 0.992 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 35 16 31.37 55 0 0.00 CD300A 11314 genome.wustl.edu 37 17 72469699 72469699 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 72469699 72469699 G T SNP CD300A ENST00000360141 human ensembl 70_37 +1 known missense c.65 p.R22M 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC ENSG00000167851 32 4 11.11 30 0 0.00 CD300A 11314 genome.wustl.edu 37 17 72469814 72469814 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72469814 72469814 G T SNP CD300A ENST00000360141 human ensembl 70_37 +1 known missense c.180 p.K60N 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC ENSG00000167851 23 19 45.24 53 0 0.00 CD300C 10871 genome.wustl.edu 37 17 72540766 72540766 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 72540766 72540766 C G SNP CD300C ENST00000330793 human ensembl 70_37 -1 known missense c.382 p.E128Q 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300C HGNC ENSG00000167850 61 8 11.43 84 0 0.00 CD300C 10871 genome.wustl.edu 37 17 72541887 72541887 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 72541887 72541887 G A SNP CD300C ENST00000330793 human ensembl 70_37 -1 known missense c.35 p.S12L 0.004 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300C HGNC ENSG00000167850 23 16 40.00 29 0 0.00 CD300LD 100131439 genome.wustl.edu 37 17 72584927 72584927 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72584927 72584927 T G SNP CD300LD ENST00000375352 human ensembl 70_37 -1 known silent c.102 p.S34 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LD HGNC ENSG00000204345 26 7 21.21 61 0 0.00 CD300LF 146722 genome.wustl.edu 37 17 72691888 72691888 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 72691888 72691888 C T SNP CD300LF ENST00000326165 human ensembl 70_37 -1 known silent c.693 p.Q231 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LF HGNC ENSG00000186074 26 13 33.33 28 0 0.00 CD320 51293 genome.wustl.edu 37 19 8373047 8373047 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 8373047 8373047 G A SNP CD320 ENST00000301458 human ensembl 70_37 -1 known missense c.128 p.S43F 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 9 3 25.00 14 0 0.00 CD34 947 genome.wustl.edu 37 1 208062063 208062063 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 208062063 208062063 C T SNP CD34 ENST00000310833 human ensembl 70_37 -1 known missense c.936 p.M312I 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 24 15 38.46 60 0 0.00 CD34 947 genome.wustl.edu 37 1 208063100 208063101 + Frame_Shift_Ins INS - - A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 208063100 208063101 - A INS CD34 ENST00000367036 human ensembl 70_37 -1 known frame_shift_ins c.83_82 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 20 16 44.44 14 0 0.00 CD36 948 genome.wustl.edu 37 7 80292452 80292452 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 7 80292452 80292452 C T SNP CD36 ENST00000309881 human ensembl 70_37 +1 known silent c.576 p.Y192 0.000 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 88 37 29.60 113 0 0.00 CD36 948 genome.wustl.edu 37 7 80300396 80300396 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 80300396 80300396 G A SNP CD36 ENST00000309881 human ensembl 70_37 +1 known missense c.922 p.D308N 1.000 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 22 23 51.11 27 0 0.00 CD36 948 genome.wustl.edu 37 7 80302689 80302689 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 80302689 80302689 G T SNP CD36 ENST00000309881 human ensembl 70_37 +1 known missense c.1218 p.K406N 0.019 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 7 3 30.00 33 0 0.00 CD37 951 genome.wustl.edu 37 19 49838725 49838725 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49838725 49838725 C G SNP CD37 ENST00000596426 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors CD37 HGNC ENSG00000104894 65 17 20.73 38 0 0.00 CD3D 915 genome.wustl.edu 37 11 118213300 118213300 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 118213300 118213300 G T SNP CD3D ENST00000300692 human ensembl 70_37 -1 known missense c.23 p.S8Y 0.007 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3D HGNC ENSG00000167286 19 4 17.39 22 0 0.00 CD3D 915 genome.wustl.edu 37 11 118213309 118213309 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 118213309 118213309 G T SNP CD3D ENST00000300692 human ensembl 70_37 -1 known missense c.14 p.T5K 0.000 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3D HGNC ENSG00000167286 19 4 17.39 24 0 0.00 CD3EAP 10849 genome.wustl.edu 37 19 45912270 45912270 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 45912270 45912270 G C SNP CD3EAP ENST00000589804 human ensembl 70_37 +1 known missense c.1050 p.E350D 0.002 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 22 13 37.14 60 0 0.00 CD3EAP 10849 genome.wustl.edu 37 19 45912703 45912703 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 45912703 45912703 G A SNP CD3EAP ENST00000589804 human ensembl 70_37 +1 known missense c.1483 p.E495K 0.000 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 9 15 62.50 33 0 0.00 CD4 920 genome.wustl.edu 37 12 6926360 6926360 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6926360 6926360 G A SNP CD4 ENST00000011653 human ensembl 70_37 +1 known silent c.1020 p.L340 0.985 pfam_Ig_C2-set pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 57 45 44.12 64 0 0.00 CD4 920 genome.wustl.edu 37 12 6927704 6927704 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6927704 6927704 G A SNP CD4 ENST00000011653 human ensembl 70_37 +1 known missense c.1274 p.R425Q 0.039 NULL pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 23 12 33.33 37 0 0.00 CD40 958 genome.wustl.edu 37 20 44756862 44756862 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 44756862 44756862 C T SNP CD40 ENST00000372276 human ensembl 70_37 +1 known nonsense c.583 p.Q195* 0.022 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 51 15 22.73 103 0 0.00 CD40LG 959 genome.wustl.edu 37 X 135730506 135730506 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 135730506 135730506 C G SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.99 p.I33M 0.921 pirsf_TNF_ligand_5,prints_TNF_ligand_5 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 38 5 11.63 63 0 0.00 CD40LG 959 genome.wustl.edu 37 X 135732428 135732428 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 135732428 135732428 G C SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.160 p.E54Q 1.000 pirsf_TNF_ligand_5,prints_TNF_ligand_5 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 10 8 44.44 74 0 0.00 CD40LG 959 genome.wustl.edu 37 X 135741263 135741263 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135741263 135741263 A G SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.475 p.K159E 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 17 4 19.05 32 0 0.00 CD44 960 genome.wustl.edu 37 11 35160833 35160833 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 35160833 35160833 C G SNP CD44 ENST00000528086 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD44 HGNC ENSG00000026508 33 4 10.81 50 0 0.00 CD44 960 genome.wustl.edu 37 11 35227665 35227665 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 35227665 35227665 C T SNP CD44 ENST00000428726 human ensembl 70_37 +1 known missense c.1289 p.S430L 0.117 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 37 30 44.78 49 0 0.00 CD44 960 genome.wustl.edu 37 11 35231516 35231516 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 11 35231516 35231516 G C SNP CD44 ENST00000428726 human ensembl 70_37 +1 known missense c.1521 p.Q507H 0.158 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 87 42 32.56 131 0 0.00 CD46 4179 genome.wustl.edu 37 1 207933081 207933081 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 207933081 207933081 C G SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors CD46 HGNC ENSG00000117335 17 16 48.48 26 0 0.00 CD46 4179 genome.wustl.edu 37 1 207934772 207934772 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207934772 207934772 T C SNP CD46 ENST00000322875 human ensembl 70_37 +1 known silent c.654 p.R218 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 42 27 39.13 114 0 0.00 CD46 4179 genome.wustl.edu 37 1 207940452 207940452 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 207940452 207940452 C T SNP CD46 ENST00000322875 human ensembl 70_37 +1 known silent c.768 p.C256 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 48 25 34.25 83 0 0.00 CD46 4179 genome.wustl.edu 37 1 207940686 207940686 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207940686 207940686 C A SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 9 3 25.00 20 0 0.00 CD46 4179 genome.wustl.edu 37 1 207967032 207967032 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 207967032 207967032 G T SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 23 4 14.81 25 0 0.00 CD47 961 genome.wustl.edu 37 3 107762289 107762289 + RNA DEL A A - TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 107762289 107762289 A - DEL CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors CD47 HGNC ENSG00000196776 15 4 21.05 10 0 0.00 CD47 961 genome.wustl.edu 37 3 107762491 107762491 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 107762491 107762491 C G SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors CD47 HGNC ENSG00000196776 64 15 18.99 24 0 0.00 CD47 961 genome.wustl.edu 37 3 107762965 107762965 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 107762965 107762965 C A SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CD47 HGNC ENSG00000196776 74 20 21.28 28 0 0.00 CD47 961 genome.wustl.edu 37 3 107763025 107763025 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 107763025 107763025 T G SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.172 - - - no_errors CD47 HGNC ENSG00000196776 16 9 36.00 27 0 0.00 CD47 961 genome.wustl.edu 37 3 107764455 107764455 + RNA SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 107764455 107764455 G A SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CD47 HGNC ENSG00000196776 12 13 52.00 18 0 0.00 CD48 962 genome.wustl.edu 37 1 160651194 160651194 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 160651194 160651194 C T SNP CD48 ENST00000368046 human ensembl 70_37 -1 known silent c.450 p.L150 0.026 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD48 HGNC ENSG00000117091 137 34 19.88 124 0 0.00 CD5 921 genome.wustl.edu 37 11 60885650 60885650 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 60885650 60885650 T C SNP CD5 ENST00000347785 human ensembl 70_37 +1 known missense c.98 p.F33S 0.002 superfamily_Srcr_rcpt-rel pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Tcell_CD5,prints_Srcr_rcpt - no_errors CD5 HGNC ENSG00000110448 46 6 11.54 60 0 0.00 CD55 1604 genome.wustl.edu 37 1 207510124 207510124 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 207510124 207510124 C G SNP CD55 ENST00000314754 human ensembl 70_37 +1 known missense c.940 p.Q314E 0.656 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 32 14 30.43 73 0 0.00 CD55 1604 genome.wustl.edu 37 1 207527419 207527419 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 207527419 207527419 C T SNP CD55 ENST00000391920 human ensembl 70_37 +1 known silent c.1149 p.I383 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 45 30 40.00 30 0 0.00 CD58 965 genome.wustl.edu 37 1 117086981 117086981 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 117086981 117086981 C A SNP CD58 ENST00000369489 human ensembl 70_37 -1 known nonsense c.316 p.E106* 0.003 NULL NULL - no_errors CD58 HGNC ENSG00000116815 30 13 30.23 35 0 0.00 CD58 965 genome.wustl.edu 37 1 117087104 117087104 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117087104 117087104 C G SNP CD58 ENST00000369489 human ensembl 70_37 -1 known missense c.193 p.E65Q 0.000 NULL NULL - no_errors CD58 HGNC ENSG00000116815 33 10 23.26 66 0 0.00 CD5L 922 genome.wustl.edu 37 1 157805798 157805798 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157805798 157805798 C T SNP CD5L ENST00000368174 human ensembl 70_37 -1 known missense c.203 p.G68E 0.989 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD5L HGNC ENSG00000073754 53 19 26.39 99 0 0.00 CD6 923 genome.wustl.edu 37 11 60776020 60776020 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 60776020 60776020 C T SNP CD6 ENST00000313421 human ensembl 70_37 +1 known missense c.484 p.R162C 0.985 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD6 HGNC ENSG00000013725 12 11 47.83 18 0 0.00 CD6 923 genome.wustl.edu 37 11 60776277 60776277 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 60776277 60776277 C A SNP CD6 ENST00000313421 human ensembl 70_37 +1 known missense c.741 p.H247Q 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD6 HGNC ENSG00000013725 13 4 23.53 20 0 0.00 CD63 967 genome.wustl.edu 37 12 56119986 56119986 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 56119986 56119986 C A SNP CD63 ENST00000257857 human ensembl 70_37 -1 known missense c.486 p.K162N 0.004 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 43 12 21.82 82 0 0.00 CD70 970 genome.wustl.edu 37 19 6586084 6586084 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 6586084 6586084 G A SNP CD70 ENST00000245903 human ensembl 70_37 -1 known missense c.529 p.P177S 0.017 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors CD70 HGNC ENSG00000125726 35 4 10.26 42 0 0.00 CD70 970 genome.wustl.edu 37 19 6586411 6586411 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 6586411 6586411 G A SNP CD70 ENST00000245903 human ensembl 70_37 -1 known nonsense c.202 p.Q68* 0.084 superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors CD70 HGNC ENSG00000125726 15 15 50.00 46 0 0.00 CD72 971 genome.wustl.edu 37 9 35610239 35610239 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 35610239 35610239 G C SNP CD72 ENST00000490239 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CD72 HGNC ENSG00000137101 40 10 20.00 70 0 0.00 CD72 971 genome.wustl.edu 37 9 35612927 35612927 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 35612927 35612927 G C SNP CD72 ENST00000259633 human ensembl 70_37 -1 known nonsense c.752 p.S251* 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 68 40 37.04 108 0 0.00 CD72 971 genome.wustl.edu 37 9 35616190 35616190 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 35616190 35616190 C T SNP CD72 ENST00000259633 human ensembl 70_37 -1 known silent c.438 p.K146 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 28 17 37.78 44 0 0.00 CD74 972 genome.wustl.edu 37 5 149784289 149784289 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 149784289 149784289 C G SNP CD74 ENST00000009530 human ensembl 70_37 -1 known missense c.579 p.M193I 1.000 pfam_MHC_II-assoc_invariant_trimer,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 15 15 50.00 15 0 0.00 CD79A 973 genome.wustl.edu 37 19 42381419 42381419 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 42381419 42381419 C G SNP CD79A ENST00000221972 human ensembl 70_37 +1 known missense c.45 p.I15M 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like - no_errors CD79A HGNC ENSG00000105369 74 55 42.64 118 0 0.00 CD79B 974 genome.wustl.edu 37 17 62007658 62007658 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 62007658 62007658 C G SNP CD79B ENST00000392795 human ensembl 70_37 -1 known missense c.209 p.S70T 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like - no_errors CD79B HGNC ENSG00000007312 31 25 44.64 48 0 0.00 CD84 8832 genome.wustl.edu 37 1 160535532 160535532 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160535532 160535532 G A SNP CD84 ENST00000311224 human ensembl 70_37 -1 known missense c.50 p.P17L 0.039 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC ENSG00000066294 15 12 44.44 27 0 0.00 CD84 8832 genome.wustl.edu 37 1 160535532 160535532 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160535532 160535532 G A SNP CD84 ENST00000311224 human ensembl 70_37 -1 known missense c.50 p.P17L 0.039 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC ENSG00000066294 33 21 38.89 35 0 0.00 CD8A 925 genome.wustl.edu 37 2 87016475 87016475 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 87016475 87016475 G A SNP CD8A ENST00000538832 human ensembl 70_37 -1 known missense c.719 p.S240L 0.812 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC ENSG00000153563 19 10 34.48 46 0 0.00 CD8A 925 genome.wustl.edu 37 2 87016516 87016516 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 87016516 87016516 G A SNP CD8A ENST00000538832 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC ENSG00000153563 15 14 48.28 34 0 0.00 CD8A 925 genome.wustl.edu 37 2 87017672 87017672 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 87017672 87017672 C G SNP CD8A ENST00000538832 human ensembl 70_37 -1 known missense c.305 p.R102P 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC ENSG00000153563 14 9 39.13 33 0 0.00 CD8B 926 genome.wustl.edu 37 2 87072069 87072069 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 87072069 87072069 C T SNP CD8B ENST00000331469 human ensembl 70_37 -1 known missense c.596 p.R199K 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC ENSG00000172116 58 14 19.44 107 0 0.00 CD8B 926 genome.wustl.edu 37 2 87085223 87085223 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 87085223 87085223 C T SNP CD8B ENST00000331469 human ensembl 70_37 -1 known silent c.360 p.G120 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC ENSG00000172116 38 11 22.45 41 0 0.00 CD96 10225 genome.wustl.edu 37 3 111264108 111264108 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111264108 111264108 G T SNP CD96 ENST00000283285 human ensembl 70_37 +1 known nonsense c.277 p.E93* 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC ENSG00000153283 63 14 17.95 25 0 0.00 CD97 976 genome.wustl.edu 37 19 14513542 14513542 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 14513542 14513542 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1317 p.L439 0.000 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 43 20 31.75 67 0 0.00 CD97 976 genome.wustl.edu 37 19 14513660 14513660 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 14513660 14513660 G A SNP CD97 ENST00000242786 human ensembl 70_37 +1 known missense c.1435 p.D479N 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 21 10 32.26 25 0 0.00 CD97 976 genome.wustl.edu 37 19 14516688 14516688 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14516688 14516688 C G SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1758 p.L586 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 12 19 61.29 23 0 0.00 CD97 976 genome.wustl.edu 37 19 14516688 14516688 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14516688 14516688 C G SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1758 p.L586 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 22 24 52.17 47 0 0.00 CD97 976 genome.wustl.edu 37 19 14516740 14516740 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 14516740 14516740 G A SNP CD97 ENST00000242786 human ensembl 70_37 +1 known missense c.1810 p.E604K 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 32 19 37.25 50 0 0.00 CD97 976 genome.wustl.edu 37 19 14517894 14517894 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14517894 14517894 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2229 p.I743 0.149 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 13 9 40.91 19 0 0.00 CD97 976 genome.wustl.edu 37 19 14517903 14517903 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14517903 14517903 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2238 p.L746 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 15 10 40.00 19 0 0.00 CD97 976 genome.wustl.edu 37 19 14517945 14517945 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 14517945 14517945 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2280 p.F760 0.008 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 13 8 38.10 24 0 0.00 CD97 976 genome.wustl.edu 37 19 14518909 14518909 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14518909 14518909 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2484 p.L828 0.998 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 44 30 40.54 80 0 0.00 CD99 4267 genome.wustl.edu 37 X 2609849 2609849 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 2609849 2609849 C T SNP CD99 ENST00000381180 human ensembl 70_37 +1 known nonsense c.88 p.Q30* 0.000 NULL NULL - no_errors CD99 HGNC ENSG00000002586 17 6 26.09 12 0 0.00 CD99 4267 genome.wustl.edu 37 X 2637439 2637440 + RNA INS - - C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 2637439 2637440 - C INS CD99 ENST00000497752 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.004 - - - no_errors CD99 HGNC ENSG00000002586 6 4 40.00 8 0 0.00 CD99 4267 genome.wustl.edu 37 X 2638398 2638398 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 2638398 2638398 C T SNP CD99 ENST00000381192 human ensembl 70_37 +1 known silent c.195 p.D65 0.013 pfam_CD99L2 pfam_CD99L2 - no_errors CD99 HGNC ENSG00000002586 118 69 36.90 206 0 0.00 CD99 4267 genome.wustl.edu 37 X 2651449 2651449 + RNA SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 2651449 2651449 G A SNP CD99 ENST00000482405 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD99 HGNC ENSG00000002586 287 136 32.08 175 0 0.00 CD99 4267 genome.wustl.edu 37 X 2651454 2651454 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 2651454 2651454 G A SNP CD99 ENST00000482405 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CD99 HGNC ENSG00000002586 125 20 13.79 147 1 0.68 CD99L2 83692 genome.wustl.edu 37 X 149963687 149963687 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 149963687 149963687 C T SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.422 p.G141E 0.655 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 64 8 11.11 41 0 0.00 CD99L2 83692 genome.wustl.edu 37 X 149963742 149963742 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 149963742 149963742 C T SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.367 p.D123N 0.990 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 55 16 22.54 67 0 0.00 CD99L2 83692 genome.wustl.edu 37 X 149998024 149998024 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149998024 149998024 G T SNP CD99L2 ENST00000320893 human ensembl 70_37 -1 known missense c.184 p.L62M 0.006 NULL NULL - no_errors CD99L2 HGNC ENSG00000102181 61 16 20.78 58 0 0.00 CD99L2 83692 genome.wustl.edu 37 X 149999752 149999752 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 149999752 149999752 C G SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.82 p.D28H 0.000 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 29 12 29.27 46 0 0.00 CDADC1 81602 genome.wustl.edu 37 13 49822118 49822118 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 49822118 49822118 G C SNP CDADC1 ENST00000466868 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDADC1 HGNC ENSG00000102543 21 14 40.00 38 0 0.00 CDAN1 146059 genome.wustl.edu 37 15 43028186 43028186 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 43028186 43028186 G A SNP CDAN1 ENST00000356231 human ensembl 70_37 -1 known silent c.660 p.I220 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 35 15 30.00 28 0 0.00 CDC123 8872 genome.wustl.edu 37 10 12257792 12257792 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 12257792 12257792 C T SNP CDC123 ENST00000281141 human ensembl 70_37 +1 known silent c.291 p.L97 0.998 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 37 23 38.33 85 0 0.00 CDC14A 8556 genome.wustl.edu 37 1 100908539 100908539 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 100908539 100908539 A G SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.506 p.Y169C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 51 7 12.07 33 0 0.00 CDC14A 8556 genome.wustl.edu 37 1 100933537 100933537 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 100933537 100933537 G T SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.864 p.L288F 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 32 37 53.62 67 0 0.00 CDC14A 8556 genome.wustl.edu 37 1 100949940 100949940 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 100949940 100949940 C G SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 45 32 41.56 107 0 0.00 CDC14B 8555 genome.wustl.edu 37 9 99258569 99258569 + Nonstop_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 99258569 99258569 C G SNP CDC14B ENST00000265659 human ensembl 70_37 -1 known nonstop c.1416 p.*472Y 0.941 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 61 33 35.11 37 0 0.00 CDC14B 8555 genome.wustl.edu 37 9 99266041 99266041 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 99266041 99266041 C A SNP CDC14B ENST00000375241 human ensembl 70_37 -1 known missense c.1491 p.L497F 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 55 10 15.38 47 0 0.00 CDC14B 8555 genome.wustl.edu 37 9 99266066 99266066 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 99266066 99266066 G C SNP CDC14B ENST00000375241 human ensembl 70_37 -1 known missense c.1466 p.S489C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 9 5 35.71 9 0 0.00 CDC14B 8555 genome.wustl.edu 37 9 99380952 99380952 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 99380952 99380952 G C SNP CDC14B ENST00000463547 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC14B HGNC ENSG00000081377 28 7 20.00 31 0 0.00 CDC16 8881 genome.wustl.edu 37 13 115011474 115011474 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 115011474 115011474 G T SNP CDC16 ENST00000356221 human ensembl 70_37 +1 known splice_site c.848-1 e10-1 1.000 - - - no_errors CDC16 HGNC ENSG00000130177 34 17 33.33 102 0 0.00 CDC16 8881 genome.wustl.edu 37 13 115012590 115012591 + RNA INS - - T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 13 115012590 115012591 - T INS CDC16 ENST00000494581 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors CDC16 HGNC ENSG00000130177 16 4 20.00 13 0 0.00 CDC16 8881 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 15 4 21.05 11 0 0.00 CDC20 991 genome.wustl.edu 37 1 43825052 43825052 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 43825052 43825052 C T SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known missense c.166 p.P56S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 66 19 22.35 39 0 0.00 CDC20 991 genome.wustl.edu 37 1 43827899 43827899 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 43827899 43827899 G C SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known missense c.1237 p.E413Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 48 22 30.56 119 0 0.00 CDC20 991 genome.wustl.edu 37 1 43827910 43827910 + Silent SNP A A C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 43827910 43827910 A C SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known silent c.1248 p.S416 0.979 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 48 23 32.39 106 0 0.00 CDC20B 166979 genome.wustl.edu 37 5 54420851 54420851 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 54420851 54420851 G C SNP CDC20B ENST00000296733 human ensembl 70_37 -1 known nonsense c.995 p.S332* 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 15 3 16.67 21 0 0.00 CDC23 8697 genome.wustl.edu 37 5 137534364 137534364 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137534364 137534364 G C SNP CDC23 ENST00000394886 human ensembl 70_37 -1 known silent c.762 p.L254 1.000 pfscan_TPR-contain_dom pfam_APC8,pfam_TPR-1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 17 14 45.16 22 0 0.00 CDC25A 993 genome.wustl.edu 37 3 48224493 48224493 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48224493 48224493 G C SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known missense c.355 p.L119V 0.999 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 57 22 27.85 58 0 0.00 CDC25A 993 genome.wustl.edu 37 3 48224499 48224499 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48224499 48224499 G A SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known missense c.349 p.P117S 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 51 20 28.17 54 0 0.00 CDC25A 993 genome.wustl.edu 37 3 48228245 48228245 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48228245 48228245 C T SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known silent c.195 p.V65 0.873 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 21 17 44.74 23 0 0.00 CDC25B 994 genome.wustl.edu 37 20 3781913 3781913 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3781913 3781913 G C SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.718 p.D240H 0.940 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 19 11 36.67 18 0 0.00 CDC25B 994 genome.wustl.edu 37 20 3781997 3781997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3781997 3781997 G C SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.802 p.D268H 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 20 19 48.72 18 0 0.00 CDC25B 994 genome.wustl.edu 37 20 3782721 3782721 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 20 3782721 3782721 G A SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.1072 p.E358K 0.426 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 66 53 44.54 76 0 0.00 CDC25B 994 genome.wustl.edu 37 20 3782998 3782998 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 3782998 3782998 G A SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.1169 p.R390Q 0.862 superfamily_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 44 18 29.03 62 0 0.00 CDC25B 994 genome.wustl.edu 37 20 3783436 3783436 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3783436 3783436 G C SNP CDC25B ENST00000468979 human ensembl 70_37 +1 known rna NULL NULL 0.163 - - - no_errors CDC25B HGNC ENSG00000101224 16 7 30.43 16 0 0.00 CDC25C 995 genome.wustl.edu 37 5 137621806 137621806 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137621806 137621806 C T SNP CDC25C ENST00000323760 human ensembl 70_37 -1 known missense c.1177 p.E393K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 37 27 42.19 54 0 0.00 CDC25C 995 genome.wustl.edu 37 5 137666710 137666710 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 137666710 137666710 G C SNP CDC25C ENST00000323760 human ensembl 70_37 -1 known missense c.160 p.L54V 0.028 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 63 9 12.50 68 0 0.00 CDC27 996 genome.wustl.edu 37 17 45214547 45214547 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 45214547 45214547 G C SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.1902 p.I634M 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 57 7 10.94 47 0 0.00 CDC27 996 genome.wustl.edu 37 17 45219631 45219631 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 45219631 45219631 G A SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known nonsense c.1360 p.Q454* 0.999 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 33 15 31.25 32 0 0.00 CDC27 996 genome.wustl.edu 37 17 45234327 45234327 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 17 45234327 45234327 C T SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.794 p.G265D 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 43 7 14.00 55 0 0.00 CDC27 996 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 47 9 16.07 52 0 0.00 CDC27 996 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 38 5 11.63 34 0 0.00 CDC27 996 genome.wustl.edu 37 17 45247376 45247376 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 45247376 45247376 C A SNP CDC27 ENST00000533415 human ensembl 70_37 -1 known nonsense c.136 p.E46* 1.000 NULL NULL - no_errors CDC27 HGNC ENSG00000004897 194 44 18.49 229 0 0.00 CDC37 11140 genome.wustl.edu 37 19 10514087 10514087 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 10514087 10514087 G A SNP CDC37 ENST00000222005 human ensembl 70_37 -1 known silent c.69 p.I23 1.000 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 40 8 16.67 39 0 0.00 CDC40 51362 genome.wustl.edu 37 6 110514391 110514391 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110514391 110514391 T G SNP CDC40 ENST00000307731 human ensembl 70_37 +1 known missense c.196 p.L66V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 16 9 36.00 43 0 0.00 CDC42 998 genome.wustl.edu 37 1 22413001 22413001 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 22413001 22413001 C T SNP CDC42 ENST00000421089 human ensembl 70_37 +1 known missense c.374 p.S125L 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CDC42 HGNC ENSG00000070831 39 14 26.42 73 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227198659 227198659 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227198659 227198659 G T SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.4858 p.L1620I 1.000 smart_PAK_box_Rho-bd pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 12 3 20.00 26 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227213836 227213836 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227213836 227213836 G T SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.4345 p.L1449I 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 27 4 12.90 31 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227262018 227262018 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 227262018 227262018 G A SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.2528 p.S843F 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 17 18 51.43 50 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227299834 227299834 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 227299834 227299834 C T SNP CDC42BPA ENST00000466538 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDC42BPA HGNC ENSG00000143776 5 5 50.00 10 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227333339 227333339 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227333339 227333339 T G SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.994 p.N332H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 16 7 30.43 34 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227335194 227335194 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 227335194 227335194 C G SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.760 p.D254H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 84 28 25.00 46 0 0.00 CDC42BPA 8476 genome.wustl.edu 37 1 227381439 227381439 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 227381439 227381439 G C SNP CDC42BPA ENST00000478573 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC42BPA HGNC ENSG00000143776 20 11 35.48 33 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103400107 103400107 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 103400107 103400107 G C SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.5078 p.S1693C 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 51 29 35.37 56 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103400155 103400155 + Nonsense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 103400155 103400155 G C SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known nonsense c.5030 p.S1677* 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 67 34 33.66 67 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103406262 103406262 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 103406262 103406262 G A SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known silent c.4614 p.D1538 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 64 26 28.89 282 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103406615 103406615 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 103406615 103406615 G T SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.4455 p.D1485E 0.973 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 10 10 50.00 43 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103434891 103434891 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 103434891 103434891 G T SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.2158 p.H720N 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 24 4 14.29 31 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103470289 103470289 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 103470289 103470289 G A SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known silent c.423 p.Y141 0.972 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 31 18 36.73 56 0 0.00 CDC42BPB 9578 genome.wustl.edu 37 14 103470347 103470347 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 103470347 103470347 C T SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.365 p.R122Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 16 9 36.00 14 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64594232 64594232 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594232 64594232 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4424 p.S1475F 0.128 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 27 23 46.00 41 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64594598 64594598 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594598 64594598 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4313 p.S1438L 1.000 pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 22 22 50.00 46 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64594791 64594791 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64594791 64594791 G T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4230 p.F1410L 0.987 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 23 30 56.60 43 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64594862 64594862 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64594862 64594862 C T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4159 p.E1387K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 44 32 42.11 51 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64597491 64597491 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 64597491 64597491 G T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.3419 p.P1140H 0.987 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 22 4 15.38 37 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64606146 64606146 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64606146 64606146 C T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.1105 p.D369N 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 19 9 32.14 26 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64608046 64608046 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 64608046 64608046 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known silent c.411 p.A137 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 17 10 37.04 49 0 0.00 CDC42BPG 55561 genome.wustl.edu 37 11 64609203 64609203 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 64609203 64609203 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known silent c.255 p.V85 0.164 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 142 71 33.33 274 0 0.00 CDC42EP1 11135 genome.wustl.edu 37 22 37962412 37962412 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 37962412 37962412 C T SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known missense c.56 p.S19L 0.998 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 35 20 36.36 36 0 0.00 CDC42EP1 11135 genome.wustl.edu 37 22 37964251 37964251 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 22 37964251 37964251 C T SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known silent c.600 p.L200 0.932 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 15 14 48.28 17 0 0.00 CDC42EP1 11135 genome.wustl.edu 37 22 37964251 37964251 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 22 37964251 37964251 C T SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known silent c.600 p.L200 0.932 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 60 63 51.22 152 0 0.00 CDC42EP1 11135 genome.wustl.edu 37 22 37964430 37964430 + Nonsense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 37964430 37964430 C G SNP CDC42EP1 ENST00000249014 human ensembl 70_37 +1 known nonsense c.779 p.S260* 0.213 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 20 3 13.04 44 0 0.00 CDC42EP3 10602 genome.wustl.edu 37 2 37873588 37873588 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 37873588 37873588 C A SNP CDC42EP3 ENST00000295324 human ensembl 70_37 -1 known missense c.143 p.G48V 1.000 pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP3 HGNC ENSG00000163171 111 67 37.64 144 0 0.00 CDC42EP4 23580 genome.wustl.edu 37 17 71281696 71281696 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 71281696 71281696 G A SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known missense c.944 p.S315L 1.000 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC ENSG00000179604 13 6 31.58 48 0 0.00 CDC42EP4 23580 genome.wustl.edu 37 17 71282208 71282208 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 71282208 71282208 C T SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known silent c.432 p.V144 0.883 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC ENSG00000179604 84 16 16.00 115 0 0.00 CDC42EP4 23580 genome.wustl.edu 37 17 71282253 71282253 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 71282253 71282253 C G SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known missense c.387 p.E129D 0.724 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC ENSG00000179604 82 16 16.16 106 0 0.00 CDC42EP4 23580 genome.wustl.edu 37 17 71302939 71302939 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 71302939 71302939 G A SNP CDC42EP4 ENST00000582303 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CDC42EP4 HGNC ENSG00000179604 24 20 45.45 35 0 0.00 CDC45 8318 genome.wustl.edu 37 22 19470334 19470334 + Missense_Mutation SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 22 19470334 19470334 T C SNP CDC45 ENST00000437685 human ensembl 70_37 +1 known missense c.326 p.V109A 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 92 42 31.11 126 0 0.00 CDC45 8318 genome.wustl.edu 37 22 19486625 19486625 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 19486625 19486625 T C SNP CDC45 ENST00000437685 human ensembl 70_37 +1 known missense c.751 p.W251R 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 16 14 46.67 48 0 0.00 CDC5L 988 genome.wustl.edu 37 6 44361207 44361207 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 44361207 44361207 T - DEL CDC5L ENST00000371477 human ensembl 70_37 +1 known frame_shift_del c.336 p.N112fs 1.000 superfamily_Homeodomain-like pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 44 12 21.43 59 0 0.00 CDC5L 988 genome.wustl.edu 37 6 44387271 44387271 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 44387271 44387271 C G SNP CDC5L ENST00000371477 human ensembl 70_37 +1 known nonsense c.1178 p.S393* 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 33 24 42.11 43 0 0.00 CDC6 990 genome.wustl.edu 37 17 38457833 38457833 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 38457833 38457833 G C SNP CDC6 ENST00000209728 human ensembl 70_37 +1 known missense c.1566 p.K522N 1.000 pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 21 12 36.36 41 0 0.00 CDC7 8317 genome.wustl.edu 37 1 91989843 91989843 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 91989843 91989843 G T SNP CDC7 ENST00000234626 human ensembl 70_37 +1 known missense c.1576 p.D526Y 0.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDC7 HGNC ENSG00000097046 53 6 10.17 29 0 0.00 CDC7 8317 genome.wustl.edu 37 1 91989963 91989963 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 91989963 91989963 C T SNP CDC7 ENST00000234626 human ensembl 70_37 +1 known missense c.1696 p.H566Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDC7 HGNC ENSG00000097046 15 11 42.31 29 0 0.00 CDC73 79577 genome.wustl.edu 37 1 193121523 193121523 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 193121523 193121523 C G SNP CDC73 ENST00000367435 human ensembl 70_37 +1 known missense c.921 p.F307L 1.000 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 73 49 40.16 85 0 0.00 CDC73 79577 genome.wustl.edu 37 1 193220216 193220216 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 193220216 193220216 G A SNP CDC73 ENST00000477868 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CDC73 HGNC ENSG00000134371 12 5 29.41 9 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25317769 25317769 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 25317769 25317769 C G SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known nonsense c.14 p.S5* 0.024 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 60 14 18.92 56 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25319603 25319603 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 25319603 25319603 G A SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.266 p.R89Q 0.844 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 66 35 34.65 124 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25325882 25325882 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 25325882 25325882 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.688 p.D230H 0.001 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 33 6 15.38 28 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25325882 25325882 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 25325882 25325882 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.688 p.D230H 0.001 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 99 15 13.04 178 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25327454 25327454 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 25327454 25327454 G A SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.778 p.E260K 0.008 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 13 7 35.00 24 0 0.00 CDCA2 157313 genome.wustl.edu 37 8 25341481 25341481 + Splice_Site SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 25341481 25341481 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known splice_site c.1121-1 e9-1 0.009 - - - no_errors CDCA2 HGNC ENSG00000184661 28 6 17.65 43 0 0.00 CDCA3 83461 genome.wustl.edu 37 12 6958094 6958094 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6958094 6958094 G A SNP CDCA3 ENST00000544610 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CDCA3 HGNC ENSG00000111665 11 13 54.17 19 0 0.00 CDCA3 83461 genome.wustl.edu 37 12 6958994 6958994 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6958994 6958994 C G SNP CDCA3 ENST00000538862 human ensembl 70_37 -1 known silent c.279 p.L93 0.999 NULL NULL - no_errors CDCA3 HGNC ENSG00000111665 12 15 55.56 56 0 0.00 CDCA4 55038 genome.wustl.edu 37 14 105477720 105477720 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105477720 105477720 C G SNP CDCA4 ENST00000336219 human ensembl 70_37 -1 known missense c.547 p.D183H 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 12 18 60.00 30 0 0.00 CDCA4 55038 genome.wustl.edu 37 14 105477866 105477866 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 105477866 105477866 G A SNP CDCA4 ENST00000336219 human ensembl 70_37 -1 known missense c.401 p.S134L 0.001 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 18 12 40.00 30 0 0.00 CDCA4 55038 genome.wustl.edu 37 14 105478048 105478048 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105478048 105478048 C T SNP CDCA4 ENST00000336219 human ensembl 70_37 -1 known missense c.219 p.M73I 1.000 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 16 13 44.83 21 0 0.00 CDCA5 113130 genome.wustl.edu 37 11 64846883 64846883 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 64846883 64846883 C A SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.620 p.G207V 0.987 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 60 41 40.59 63 0 0.00 CDCA5 113130 genome.wustl.edu 37 11 64847036 64847036 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64847036 64847036 G C SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.467 p.S156C 0.588 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 51 15 22.73 55 0 0.00 CDCA5 113130 genome.wustl.edu 37 11 64847126 64847126 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64847126 64847126 G A SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.377 p.S126F 0.001 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 33 9 21.43 33 0 0.00 CDCA7L 55536 genome.wustl.edu 37 7 21945150 21945150 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21945150 21945150 G A SNP CDCA7L ENST00000406877 human ensembl 70_37 -1 known nonsense c.1021 p.R341* 0.970 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 13 16 55.17 36 0 0.00 CDCA7L 55536 genome.wustl.edu 37 7 21945962 21945962 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 21945962 21945962 G A SNP CDCA7L ENST00000406877 human ensembl 70_37 -1 known missense c.866 p.S289L 0.985 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 62 15 19.48 56 0 0.00 CDCP1 64866 genome.wustl.edu 37 3 45132717 45132717 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 45132717 45132717 G A SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known silent c.1941 p.S647 0.000 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 41 8 16.33 58 0 0.00 CDCP1 64866 genome.wustl.edu 37 3 45132718 45132718 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 45132718 45132718 C G SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.1940 p.S647T 0.003 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 41 8 16.33 58 0 0.00 CDCP1 64866 genome.wustl.edu 37 3 45134979 45134979 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 45134979 45134979 C T SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.1417 p.E473K 0.844 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 26 11 29.73 55 0 0.00 CDCP1 64866 genome.wustl.edu 37 3 45152247 45152247 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 45152247 45152247 C T SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 superfamily_CUB superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 265 59 18.15 392 0 0.00 CDCP2 200008 genome.wustl.edu 37 1 54602317 54602317 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 54602317 54602317 C T SNP CDCP2 ENST00000530059 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors CDCP2 HGNC ENSG00000157211 33 26 44.07 63 0 0.00 CDH1 999 genome.wustl.edu 37 16 68862194 68862194 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 68862194 68862194 G A SNP CDH1 ENST00000261769 human ensembl 70_37 +1 known missense c.2282 p.G761E 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 66 33 33.33 82 0 0.00 CDH1 999 genome.wustl.edu 37 16 68867208 68867208 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 68867208 68867208 G A SNP CDH1 ENST00000261769 human ensembl 70_37 +1 known missense c.2455 p.D819N 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 34 6 15.00 46 0 0.00 CDH1 999 genome.wustl.edu 37 16 68868700 68868700 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 68868700 68868700 G T SNP CDH1 ENST00000563198 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDH1 HGNC ENSG00000039068 34 4 10.53 36 0 0.00 CDH1 999 genome.wustl.edu 37 16 68869294 68869294 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 68869294 68869294 G A SNP CDH1 ENST00000563198 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors CDH1 HGNC ENSG00000039068 7 6 46.15 18 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24487404 24487404 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 24487404 24487404 C A SNP CDH10 ENST00000502921 human ensembl 70_37 -1 known rna NULL NULL 0.971 - - - no_errors CDH10 HGNC ENSG00000040731 34 11 23.91 29 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24487903 24487903 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 24487903 24487903 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.2236 p.E746K 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 37 17 31.48 46 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24487975 24487975 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 24487975 24487975 C A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.2164 p.D722Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 36 12 25.00 66 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24491741 24491741 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 24491741 24491741 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1820 p.A607V 0.987 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 17 5 22.73 28 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24509805 24509805 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 24509805 24509805 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1126 p.E376K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 32 30 48.39 96 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24509922 24509922 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 24509922 24509922 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1009 p.D337N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 72 14 16.28 34 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24511436 24511436 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 24511436 24511436 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.1002 p.K334 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 61 14 18.67 73 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24511474 24511474 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 24511474 24511474 C G SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.964 p.E322Q 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 74 23 23.71 126 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24535249 24535249 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 24535249 24535249 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.786 p.V262 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 75 23 23.23 99 0 0.00 CDH10 1008 genome.wustl.edu 37 5 24593378 24593378 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 24593378 24593378 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.222 p.Y74 0.986 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 22 14 38.89 46 0 0.00 CDH11 1009 genome.wustl.edu 37 16 64981644 64981644 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 64981644 64981644 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.2253 p.V751 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 20 4 16.67 43 0 0.00 CDH11 1009 genome.wustl.edu 37 16 64984692 64984692 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 64984692 64984692 G C SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.1872 p.L624 0.327 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 34 11 24.44 44 0 0.00 CDH11 1009 genome.wustl.edu 37 16 64984722 64984722 + Silent SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 64984722 64984722 G T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.1842 p.G614 0.705 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 24 10 29.41 46 0 0.00 CDH11 1009 genome.wustl.edu 37 16 64984907 64984907 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 64984907 64984907 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.1657 p.V553M 0.320 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 20 17 45.95 30 0 0.00 CDH11 1009 genome.wustl.edu 37 16 65006813 65006813 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 65006813 65006813 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.1384 p.E462K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 19 4 17.39 16 0 0.00 CDH11 1009 genome.wustl.edu 37 16 65022100 65022100 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 65022100 65022100 G A SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.959 p.T320M 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 134 39 22.54 389 1 0.26 CDH11 1009 genome.wustl.edu 37 16 65022216 65022216 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 65022216 65022216 G A SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.843 p.A281 0.984 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 50 29 36.71 80 0 0.00 CDH11 1009 genome.wustl.edu 37 16 65038559 65038559 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 65038559 65038559 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.214 p.V72M 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 75 23 23.47 74 0 0.00 CDH12 1010 genome.wustl.edu 37 5 21751850 21751850 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 21751850 21751850 G A SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.2381 p.T794I 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 48 6 11.11 49 0 0.00 CDH12 1010 genome.wustl.edu 37 5 21752319 21752319 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 21752319 21752319 G A SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known nonsense c.1912 p.R638* 0.943 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 55 23 29.49 83 0 0.00 CDH12 1010 genome.wustl.edu 37 5 21817228 21817228 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 21817228 21817228 C G SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.828 p.L276F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 14 14 50.00 22 0 0.00 CDH12 1010 genome.wustl.edu 37 5 21975288 21975288 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 21975288 21975288 G C SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.438 p.F146L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 165 25 13.16 141 0 0.00 CDH12 1010 genome.wustl.edu 37 5 21975495 21975495 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 21975495 21975495 C T SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known splice_site c.232-1 e2-1 1.000 - - - no_errors CDH12 HGNC ENSG00000154162 93 38 29.01 173 0 0.00 CDH12 1010 genome.wustl.edu 37 5 22078958 22078958 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 22078958 22078958 C T SNP CDH12 ENST00000518209 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CDH12 HGNC ENSG00000154162 55 17 23.61 42 0 0.00 CDH13 1012 genome.wustl.edu 37 16 82892020 82892020 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 82892020 82892020 G C SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.99 p.Q33H 1.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 14 11 44.00 23 0 0.00 CDH13 1012 genome.wustl.edu 37 16 83636197 83636197 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 83636197 83636197 G C SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.1099 p.E367Q 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 126 16 11.19 157 0 0.00 CDH13 1012 genome.wustl.edu 37 16 83816988 83816988 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 83816988 83816988 G A SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.2045 p.C682Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 29 4 12.12 28 0 0.00 CDH13 1012 genome.wustl.edu 37 16 83817034 83817034 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 83817034 83817034 C T SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known silent c.2091 p.F697 0.699 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 9 16 64.00 29 0 0.00 CDH13 1012 genome.wustl.edu 37 16 83817049 83817049 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 83817049 83817049 C T SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known silent c.2106 p.V702 0.262 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 7 18 72.00 25 0 0.00 CDH15 1013 genome.wustl.edu 37 16 89245823 89245823 + Splice_Site SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 89245823 89245823 G C SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known splice_site c.43-1 e2-1 0.744 - - - no_errors CDH15 HGNC ENSG00000129910 36 4 10.00 58 0 0.00 CDH15 1013 genome.wustl.edu 37 16 89251670 89251670 + Missense_Mutation SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89251670 89251670 A G SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known missense c.592 p.S198G 0.052 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 40 38 48.72 56 0 0.00 CDH15 1013 genome.wustl.edu 37 16 89251681 89251681 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89251681 89251681 C T SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known silent c.603 p.L201 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 27 30 52.63 60 0 0.00 CDH17 1015 genome.wustl.edu 37 8 95164278 95164278 + Silent SNP A A C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 95164278 95164278 A C SNP CDH17 ENST00000027335 human ensembl 70_37 -1 known silent c.1614 p.P538 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 38 22 36.67 71 0 0.00 CDH17 1015 genome.wustl.edu 37 8 95164299 95164299 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 95164299 95164299 G C SNP CDH17 ENST00000027335 human ensembl 70_37 -1 known missense c.1593 p.F531L 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 45 7 13.46 55 0 0.00 CDH17 1015 genome.wustl.edu 37 8 95186037 95186037 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 95186037 95186037 G C SNP CDH17 ENST00000027335 human ensembl 70_37 -1 known missense c.771 p.I257M 0.863 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 10 9 47.37 11 0 0.00 CDH18 1016 genome.wustl.edu 37 5 19473351 19473351 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 19473351 19473351 G A SNP CDH18 ENST00000274170 human ensembl 70_37 -1 known missense c.2357 p.S786F 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 32 26 44.83 73 0 0.00 CDH18 1016 genome.wustl.edu 37 5 19839103 19839103 + RNA SNP T T A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 19839103 19839103 T A SNP CDH18 ENST00000511423 human ensembl 70_37 -1 known rna NULL NULL 0.863 - - - no_errors CDH18 HGNC ENSG00000145526 34 10 22.73 25 0 0.00 CDH19 28513 genome.wustl.edu 37 18 64172242 64172242 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 64172242 64172242 T A SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known missense c.2126 p.D709V 0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 29 6 17.14 42 0 0.00 CDH19 28513 genome.wustl.edu 37 18 64172444 64172444 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 64172444 64172444 C T SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known missense c.1924 p.D642N 0.985 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 18 17 48.57 39 0 0.00 CDH19 28513 genome.wustl.edu 37 18 64218334 64218334 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 64218334 64218334 C A SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known nonsense c.772 p.E258* 0.989 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 18 11 37.93 66 0 0.00 CDH19 28513 genome.wustl.edu 37 18 64239258 64239258 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 18 64239258 64239258 G A SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known missense c.184 p.H62Y 0.009 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 13 16 55.17 27 0 0.00 CDH2 1000 genome.wustl.edu 37 18 25565688 25565688 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 25565688 25565688 G A SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known silent c.1779 p.I593 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC ENSG00000170558 14 4 22.22 37 0 0.00 CDH2 1000 genome.wustl.edu 37 18 25570188 25570188 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 25570188 25570188 C T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known missense c.1471 p.V491I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC ENSG00000170558 36 15 29.41 35 0 0.00 CDH2 1000 genome.wustl.edu 37 18 25570188 25570188 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 25570188 25570188 C T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known missense c.1471 p.V491I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC ENSG00000170558 73 34 31.78 128 1 0.78 CDH2 1000 genome.wustl.edu 37 18 25583081 25583081 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 25583081 25583081 G T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known silent c.900 p.L300 0.014 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC ENSG00000170558 83 25 23.15 125 0 0.00 CDH20 28316 genome.wustl.edu 37 18 59166539 59166539 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 59166539 59166539 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 25 24 48.98 39 0 0.00 CDH20 28316 genome.wustl.edu 37 18 59166539 59166539 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 59166539 59166539 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 52 24 31.58 40 0 0.00 CDH20 28316 genome.wustl.edu 37 18 59195380 59195380 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 59195380 59195380 G C SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.1198 p.E400Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 74 28 27.45 126 0 0.00 CDH20 28316 genome.wustl.edu 37 18 59217360 59217360 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 59217360 59217360 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.1798 p.D600N 0.006 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 28 6 17.65 36 0 0.00 CDH22 64405 genome.wustl.edu 37 20 44841750 44841750 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 44841750 44841750 C T SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known missense c.916 p.V306M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 46 12 20.34 54 0 0.00 CDH22 64405 genome.wustl.edu 37 20 44869843 44869843 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 44869843 44869843 G A SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known silent c.309 p.G103 0.958 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 129 34 20.86 117 0 0.00 CDH22 64405 genome.wustl.edu 37 20 44879767 44879767 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 20 44879767 44879767 C T SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known missense c.167 p.G56E 0.001 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 34 9 20.93 35 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73269977 73269977 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 73269977 73269977 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.284 p.R95K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 36 35 49.30 62 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73442211 73442211 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 73442211 73442211 T G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.1877 p.V626G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 53 6 10.17 66 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73455216 73455218 + In_Frame_Del DEL GTG GTG - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 73455216 73455218 GTG - DEL CDH23 ENST00000224721 human ensembl 70_37 +1 known in_frame_del c.2340_2342 p.W781in_frame_del 0.868:1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 53 32 37.65 97 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73472508 73472508 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 73472508 73472508 C T SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known silent c.3316 p.L1106 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 32 19 37.25 36 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73500672 73500672 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 73500672 73500672 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.4591 p.E1531K 1.000 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 109 32 22.70 111 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73501685 73501685 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 73501685 73501685 G A SNP CDH23 ENST00000398792 human ensembl 70_37 +1 known missense c.1312 p.D438N 0.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 10 11 52.38 25 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73552953 73552953 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 73552953 73552953 C G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.6277 p.Q2093E 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 12 10 45.45 28 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73556641 73556642 + RNA INS - - C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 73556641 73556642 - C INS CDH23 ENST00000475158 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CDH23 HGNC ENSG00000107736 6 4 40.00 11 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73556744 73556744 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 73556744 73556744 C G SNP CDH23 ENST00000475158 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CDH23 HGNC ENSG00000107736 32 18 36.00 27 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73558160 73558160 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 73558160 73558160 C G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.6888 p.F2296L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 33 8 19.51 32 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73569598 73569598 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 73569598 73569598 G T SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.8753 p.R2918L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 19 9 32.14 22 0 0.00 CDH23 64072 genome.wustl.edu 37 10 73574925 73574925 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 73574925 73574925 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.9964 p.E3322K 0.994 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 24 4 14.29 48 0 0.00 CDH23-AS1 414246 genome.wustl.edu 37 10 73269694 73269694 + RNA SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 73269694 73269694 G A SNP CDH23-AS1 ENST00000428918 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDH23-AS1 HGNC ENSG00000223817 22 4 15.38 28 0 0.00 CDH24 64403 genome.wustl.edu 37 14 23517581 23517581 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 23517581 23517581 C T SNP CDH24 ENST00000267383 human ensembl 70_37 -1 known missense c.2068 p.G690S 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 3 3 50.00 12 0 0.00 CDH24 64403 genome.wustl.edu 37 14 23523479 23523479 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 23523479 23523479 G A SNP CDH24 ENST00000267383 human ensembl 70_37 -1 known silent c.843 p.L281 0.077 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 39 11 22.00 43 0 0.00 CDH26 60437 genome.wustl.edu 37 20 58559720 58559720 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 58559720 58559720 G T SNP CDH26 ENST00000244047 human ensembl 70_37 +1 known missense c.568 p.V190F 0.105 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 16 3 15.79 29 0 0.00 CDH3 1001 genome.wustl.edu 37 16 68725654 68725654 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 68725654 68725654 C T SNP CDH3 ENST00000264012 human ensembl 70_37 +1 known silent c.1827 p.F609 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 70 25 26.32 75 0 0.00 CDH3 1001 genome.wustl.edu 37 16 68732019 68732019 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 68732019 68732019 G A SNP CDH3 ENST00000429102 human ensembl 70_37 +1 known silent c.2304 p.Q768 0.023 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 37 24 39.34 57 0 0.00 CDH4 1002 genome.wustl.edu 37 20 60448849 60448849 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 60448849 60448849 C T SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known missense c.943 p.R315W 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 89 28 23.93 123 0 0.00 CDH4 1002 genome.wustl.edu 37 20 60498574 60498574 + Silent SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 60498574 60498574 G C SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known silent c.1440 p.L480 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 19 12 38.71 50 0 0.00 CDH4 1002 genome.wustl.edu 37 20 60498707 60498707 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 60498707 60498707 G A SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known missense c.1573 p.V525M 0.149 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 12 11 47.83 33 0 0.00 CDH4 1002 genome.wustl.edu 37 20 60511902 60511902 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 20 60511902 60511902 C T SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known silent c.2652 p.N884 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 48 12 20.00 46 0 0.00 CDH5 1003 genome.wustl.edu 37 16 66424396 66424396 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 66424396 66424396 G A SNP CDH5 ENST00000341529 human ensembl 70_37 +1 known missense c.872 p.R291Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 12 14 53.85 41 0 0.00 CDH6 1004 genome.wustl.edu 37 5 31267658 31267658 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 31267658 31267658 G A SNP CDH6 ENST00000265071 human ensembl 70_37 +1 known silent c.78 p.K26 0.862 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 29 13 30.95 66 0 0.00 CDH6 1004 genome.wustl.edu 37 5 31317953 31317953 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 31317953 31317953 G A SNP CDH6 ENST00000265071 human ensembl 70_37 +1 known missense c.1804 p.A602T 0.994 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 54 14 20.59 68 0 0.00 CDH6 1004 genome.wustl.edu 37 5 31318086 31318086 + Missense_Mutation SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 31318086 31318086 A G SNP CDH6 ENST00000514738 human ensembl 70_37 +1 putative missense c.1772 p.Y591C 0.999 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 25 57 69.51 52 0 0.00 CDH6 1004 genome.wustl.edu 37 5 31318086 31318086 + Missense_Mutation SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 31318086 31318086 A G SNP CDH6 ENST00000514738 human ensembl 70_37 +1 putative missense c.1772 p.Y591C 0.999 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 35 60 63.16 35 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63430284 63430284 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 63430284 63430284 G C SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.206 p.G69A 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 29 6 17.14 48 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63477135 63477135 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 63477135 63477135 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 22 5 18.52 39 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63481756 63481756 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 63481756 63481756 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.541 p.D181N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 62 32 34.04 101 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63511149 63511149 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 18 63511149 63511149 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known silent c.1083 p.T361 0.570 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 10 4 28.57 69 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63526275 63526275 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 63526275 63526275 C T SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.1487 p.P496L 0.953 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 28 15 34.88 44 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63526275 63526275 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 63526275 63526275 C T SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.1487 p.P496L 0.953 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 40 14 25.93 42 0 0.00 CDH7 1005 genome.wustl.edu 37 18 63547856 63547856 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 18 63547856 63547856 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.2084 p.R695Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 34 21 38.18 31 0 0.00 CDH8 1006 genome.wustl.edu 37 16 61689423 61689423 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 61689423 61689423 G A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known silent c.1857 p.L619 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 18 8 30.77 40 0 0.00 CDH8 1006 genome.wustl.edu 37 16 61747856 61747856 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 61747856 61747856 G C SNP CDH8 ENST00000585315 human ensembl 70_37 -1 known nonsense c.1421 p.S474* 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 37 6 13.95 58 0 0.00 CDH8 1006 genome.wustl.edu 37 16 61747890 61747890 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 61747890 61747890 T G SNP CDH8 ENST00000583483 human ensembl 70_37 -1 putative rna NULL NULL 0.818 - - - no_errors CDH8 HGNC ENSG00000150394 9 10 52.63 48 0 0.00 CDH8 1006 genome.wustl.edu 37 16 61855002 61855002 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 61855002 61855002 G A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known missense c.851 p.S284L 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 34 20 37.04 68 0 0.00 CDH8 1006 genome.wustl.edu 37 16 61952343 61952343 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 61952343 61952343 C T SNP CDH8 ENST00000577228 human ensembl 70_37 -1 putative rna NULL NULL 0.189 - - - no_errors CDH8 HGNC ENSG00000150394 25 6 19.35 31 0 0.00 CDH8 1006 genome.wustl.edu 37 16 62055157 62055157 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 62055157 62055157 C A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known nonsense c.151 p.E51* 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 23 9 28.12 48 0 0.00 CDH9 1007 genome.wustl.edu 37 5 26885933 26885933 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 26885933 26885933 G A SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known missense c.1672 p.R558C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 27 6 18.18 40 0 0.00 CDH9 1007 genome.wustl.edu 37 5 26885962 26885962 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 26885962 26885962 C A SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known missense c.1643 p.G548V 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 94 15 13.76 77 0 0.00 CDH9 1007 genome.wustl.edu 37 5 26915832 26915832 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 26915832 26915832 C T SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known silent c.429 p.S143 0.927 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 26 4 13.33 23 0 0.00 CDHR1 92211 genome.wustl.edu 37 10 85965626 85965626 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 85965626 85965626 C T SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.906 p.I302 0.760 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 36 6 13.95 61 0 0.00 CDHR1 92211 genome.wustl.edu 37 10 85968517 85968517 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 85968517 85968517 G A SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.1200 p.V400 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 13 7 35.00 71 0 0.00 CDHR1 92211 genome.wustl.edu 37 10 85970835 85970835 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 85970835 85970835 G A SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known missense c.1399 p.D467N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 42 16 27.59 94 0 0.00 CDHR1 92211 genome.wustl.edu 37 10 85974065 85974065 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 85974065 85974065 C G SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.2268 p.L756 0.999 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 25 16 39.02 47 0 0.00 CDHR1 92211 genome.wustl.edu 37 10 85974456 85974456 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 85974456 85974456 C T SNP CDHR1 ENST00000459673 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CDHR1 HGNC ENSG00000148600 19 11 36.67 36 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 175998219 175998219 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 175998219 175998219 G C SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.321 p.Q107H 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 35 15 30.00 26 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176002413 176002413 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 176002413 176002413 G A SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.754 p.E252K 0.880 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 16 11 40.74 67 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176004413 176004413 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 176004413 176004413 C G SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.1208 p.T403S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 73 22 23.16 115 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176011451 176011451 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176011451 176011451 G C SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.2169 p.Q723H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 34 18 34.62 28 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176011691 176011691 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 176011691 176011691 C A SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.2409 p.D803E 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 54 9 14.29 62 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176016617 176016617 + Missense_Mutation SNP C C T TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 5 176016617 176016617 C T SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.3206 p.A1069V 0.002 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 19 3 13.64 26 0 0.00 CDHR2 54825 genome.wustl.edu 37 5 176017146 176017146 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 176017146 176017146 C T SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.3274 p.R1092W 0.073 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 1 3 75.00 11 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105564466 105564466 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 105564466 105564466 A G SNP CDHR3 ENST00000472116 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDHR3 HGNC ENSG00000128536 36 10 21.74 21 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105621546 105621546 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105621546 105621546 G A SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.382 p.E128K 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 41 13 24.07 49 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105635288 105635288 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105635288 105635288 G C SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.605 p.R202T 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 26 3 10.34 29 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105662778 105662778 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105662778 105662778 G A SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.1960 p.D654N 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 187 46 19.66 225 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105669022 105669022 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 105669022 105669022 C T SNP CDHR3 ENST00000343407 human ensembl 70_37 +1 known missense c.805 p.R269C 0.000 NULL superfamily_Cadherin-like,pfscan_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 33 6 15.38 49 0 0.00 CDHR3 222256 genome.wustl.edu 37 7 105672949 105672949 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 105672949 105672949 C T SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.2464 p.R822C 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 59 18 23.38 83 0 0.00 CDHR4 389118 genome.wustl.edu 37 3 49831352 49831352 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 3 49831352 49831352 G A SNP CDHR4 ENST00000412678 human ensembl 70_37 -1 known missense c.1367 p.A456V 0.963 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 18 11 37.93 30 0 0.00 CDHR4 389118 genome.wustl.edu 37 3 49831402 49831402 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 49831402 49831402 G A SNP CDHR4 ENST00000412678 human ensembl 70_37 -1 known silent c.1317 p.N439 0.911 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 6 5 45.45 16 0 0.00 CDHR4 389118 genome.wustl.edu 37 3 49832787 49832787 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49832787 49832787 C T SNP CDHR4 ENST00000412678 human ensembl 70_37 -1 known silent c.873 p.T291 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 40 28 41.18 120 0 0.00 CDHR5 53841 genome.wustl.edu 37 11 617419 617419 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 617419 617419 C G SNP CDHR5 ENST00000358353 human ensembl 70_37 -1 known missense c.2470 p.E824Q 0.001 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 88 29 24.58 57 0 0.00 CDHR5 53841 genome.wustl.edu 37 11 619042 619042 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 619042 619042 G A SNP CDHR5 ENST00000358353 human ensembl 70_37 -1 known missense c.1517 p.S506F 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 39 23 37.10 54 0 0.00 CDK10 8558 genome.wustl.edu 37 16 89756984 89756984 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 89756984 89756984 G C SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.184 p.D62H 0.971 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC ENSG00000185324 39 26 40.00 52 0 0.00 CDK10 8558 genome.wustl.edu 37 16 89757024 89757026 + In_Frame_Del DEL AGA AGA - TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 89757024 89757026 AGA - DEL CDK10 ENST00000353379 human ensembl 70_37 +1 known in_frame_del c.224_226 p.K76in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC ENSG00000185324 123 15 10.87 156 0 0.00 CDK10 8558 genome.wustl.edu 37 16 89757893 89757893 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 89757893 89757893 G A SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.275 p.R92H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC ENSG00000185324 60 26 29.89 63 0 0.00 CDK10 8558 genome.wustl.edu 37 16 89758907 89758907 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89758907 89758907 G C SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.468 p.R156S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC ENSG00000185324 44 10 18.52 52 0 0.00 CDK10 8558 genome.wustl.edu 37 16 89762071 89762071 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 89762071 89762071 G A SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.1054 p.E352K 0.908 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC ENSG00000185324 55 53 48.62 71 0 0.00 CDK11A 728642 genome.wustl.edu 37 1 1636376 1636376 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1636376 1636376 G C SNP CDK11A ENST00000404249 human ensembl 70_37 -1 known silent c.1425 p.L475 0.961 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11A HGNC ENSG00000008128 45 41 47.13 114 0 0.00 CDK11B 984 genome.wustl.edu 37 1 1572314 1572314 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 1572314 1572314 G T SNP CDK11B ENST00000407249 human ensembl 70_37 -1 known missense c.1754 p.T585N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC ENSG00000248333 41 21 33.87 44 0 0.00 CDK11B 984 genome.wustl.edu 37 1 1588857 1588857 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1588857 1588857 C G SNP CDK11B ENST00000407249 human ensembl 70_37 -1 known missense c.79 p.E27Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC ENSG00000248333 61 42 40.78 113 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37627371 37627371 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37627371 37627371 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.1286 p.R429T 0.514 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 27 11 28.95 33 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37627763 37627763 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 37627763 37627763 C T SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.1678 p.L560F 0.456 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 243 53 17.91 259 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37649098 37649098 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 37649098 37649098 G A SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.2203 p.E735K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 34 8 19.05 72 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37667867 37667867 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 37667867 37667867 G A SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.2752 p.D918N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 21 10 32.26 51 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37681036 37681036 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 37681036 37681036 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.3205 p.E1069Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 56 11 16.42 57 0 0.00 CDK12 51755 genome.wustl.edu 37 17 37687065 37687065 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 37687065 37687065 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.3969 p.L1323F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 56 17 22.97 78 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40038973 40038973 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 40038973 40038973 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2056 p.R686C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 24 11 31.43 32 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40041617 40041617 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 40041617 40041617 C G SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2340 p.F780L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 11 7 38.89 16 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40118338 40118338 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 40118338 40118338 G A SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2917 p.D973N 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 32 49 60.49 128 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40132633 40132633 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 40132633 40132633 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.3485 p.S1162F 0.955 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 159 32 16.75 152 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40132638 40132638 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 40132638 40132638 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known nonsense c.3490 p.Q1164* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 20 12 37.50 47 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40134004 40134004 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 40134004 40134004 G A SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.3964 p.D1322N 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 18 2 10.00 31 0 0.00 CDK13 8621 genome.wustl.edu 37 7 40134371 40134371 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 40134371 40134371 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.4331 p.S1444F 0.987 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK13 HGNC ENSG00000065883 98 22 18.33 127 0 0.00 CDK14 5218 genome.wustl.edu 37 7 90338784 90338784 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 90338784 90338784 C T SNP CDK14 ENST00000496279 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors CDK14 HGNC ENSG00000058091 10 4 28.57 21 0 0.00 CDK14 5218 genome.wustl.edu 37 7 90338818 90338818 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 90338818 90338818 C G SNP CDK14 ENST00000496279 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CDK14 HGNC ENSG00000058091 53 20 27.40 71 0 0.00 CDK14 5218 genome.wustl.edu 37 7 90356041 90356041 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 90356041 90356041 C G SNP CDK14 ENST00000380050 human ensembl 70_37 +1 known missense c.284 p.S95C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK14 HGNC ENSG00000058091 11 11 50.00 18 0 0.00 CDK14 5218 genome.wustl.edu 37 7 90419921 90419921 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 90419921 90419921 C T SNP CDK14 ENST00000431029 human ensembl 70_37 +1 known nonsense c.265 p.Q89* 0.984 NULL NULL - no_errors CDK14 HGNC ENSG00000058091 92 22 19.30 141 0 0.00 CDK14 5218 genome.wustl.edu 37 7 90747472 90747472 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 90747472 90747472 A G SNP CDK14 ENST00000380050 human ensembl 70_37 +1 known missense c.1387 p.S463G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK14 HGNC ENSG00000058091 72 16 18.18 59 0 0.00 CDK17 5128 genome.wustl.edu 37 12 96676323 96676323 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 96676323 96676323 G A SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known nonsense c.1420 p.R474* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 10 7 41.18 19 0 0.00 CDK17 5128 genome.wustl.edu 37 12 96679840 96679840 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 96679840 96679840 G C SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known missense c.1303 p.L435V 0.999 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 10 7 41.18 22 0 0.00 CDK17 5128 genome.wustl.edu 37 12 96688839 96688839 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 96688839 96688839 C T SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known missense c.935 p.R312Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 49 18 26.87 45 0 0.00 CDK17 5128 genome.wustl.edu 37 12 96717761 96717761 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 96717761 96717761 G C SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known missense c.248 p.S83C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 80 59 42.45 75 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205495892 205495892 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 205495892 205495892 C T SNP CDK18 ENST00000505932 human ensembl 70_37 +1 known rna NULL NULL 0.108 - - - no_errors CDK18 HGNC ENSG00000117266 15 18 54.55 21 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205499656 205499656 + RNA SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 205499656 205499656 G T SNP CDK18 ENST00000459862 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 30 4 11.76 28 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205499706 205499706 + RNA SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 205499706 205499706 G C SNP CDK18 ENST00000459862 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CDK18 HGNC ENSG00000117266 17 10 37.04 20 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205501487 205501487 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 205501487 205501487 G A SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 11 3 21.43 29 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205501518 205501518 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 205501518 205501518 C T SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 17 7 29.17 32 0 0.00 CDK18 5129 genome.wustl.edu 37 1 205501636 205501636 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 205501636 205501636 G A SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 28 18 39.13 20 0 0.00 CDK2 1017 genome.wustl.edu 37 12 56365402 56365402 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 56365402 56365402 G A SNP CDK2 ENST00000266970 human ensembl 70_37 +1 known missense c.890 p.R297Q 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK2 HGNC ENSG00000123374 26 7 21.21 58 0 0.00 CDK2 1017 genome.wustl.edu 37 12 56365574 56365574 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 56365574 56365574 G T SNP CDK2 ENST00000554545 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK2 HGNC ENSG00000123374 43 28 39.44 57 0 0.00 CDK20 23552 genome.wustl.edu 37 9 90589419 90589419 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 90589419 90589419 C G SNP CDK20 ENST00000459720 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDK20 HGNC ENSG00000156345 16 20 55.56 36 0 0.00 CDK2AP2 10263 genome.wustl.edu 37 11 67274909 67274909 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 67274909 67274909 G A SNP CDK2AP2 ENST00000301488 human ensembl 70_37 -1 known silent c.240 p.V80 1.000 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP2 HGNC ENSG00000167797 24 11 31.43 46 0 0.00 CDK2AP2 10263 genome.wustl.edu 37 11 67275414 67275414 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67275414 67275414 C G SNP CDK2AP2 ENST00000531178 human ensembl 70_37 -1 known missense c.140 p.R47T 1.000 NULL NULL - no_errors CDK2AP2 HGNC ENSG00000167797 16 5 23.81 22 0 0.00 CDK3 1018 genome.wustl.edu 37 17 74001454 74001454 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74001454 74001454 G C SNP CDK3 ENST00000425876 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.002 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK3 HGNC ENSG00000250506 78 16 17.02 89 0 0.00 CDK4 1019 genome.wustl.edu 37 12 58145321 58145321 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 58145321 58145321 C T SNP CDK4 ENST00000257904 human ensembl 70_37 -1 known silent c.180 p.L60 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK4 HGNC ENSG00000135446 31 9 22.50 32 0 0.00 CDK5R1 8851 genome.wustl.edu 37 17 30814673 30814673 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 30814673 30814673 G A SNP CDK5R1 ENST00000313401 human ensembl 70_37 +1 known missense c.35 p.R12Q 0.999 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 25 16 39.02 33 0 0.00 CDK5R2 8941 genome.wustl.edu 37 2 219825154 219825154 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219825154 219825154 G C SNP CDK5R2 ENST00000302625 human ensembl 70_37 +1 known silent c.612 p.L204 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 7 4 36.36 11 0 0.00 CDK5R2 8941 genome.wustl.edu 37 2 219825346 219825346 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 219825346 219825346 C T SNP CDK5R2 ENST00000302625 human ensembl 70_37 +1 known silent c.804 p.L268 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 4 5 55.56 14 0 0.00 CDK5RAP1 51654 genome.wustl.edu 37 20 31984665 31984665 + Nonsense_Mutation SNP A A T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 31984665 31984665 A T SNP CDK5RAP1 ENST00000357886 human ensembl 70_37 -1 known nonsense c.206 p.L69* 1.000 NULL pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 11 10 45.45 15 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123165171 123165171 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 123165171 123165171 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known silent c.5220 p.Q1740 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 39 39 50.00 50 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123169326 123169326 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 123169326 123169326 A G SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.4927 p.S1643P 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 9 8 47.06 41 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123202133 123202133 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 123202133 123202133 G A SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.3266 p.S1089F 0.920 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 44 19 30.16 32 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123202153 123202153 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 123202153 123202153 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known silent c.3246 p.L1082 0.305 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 27 29 51.79 53 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123216113 123216113 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 123216113 123216113 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.2414 p.G805E 0.282 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 30 12 28.57 79 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123253644 123253644 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123253644 123253644 G C SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.1423 p.Q475E 0.639 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 39 24 38.10 76 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123287355 123287355 + Missense_Mutation SNP A A G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 9 123287355 123287355 A G SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.1001 p.V334A 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 9 12 57.14 9 0 0.00 CDK5RAP2 55755 genome.wustl.edu 37 9 123298654 123298654 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 9 123298654 123298654 C G SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.658 p.D220H 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 77 26 25.24 50 0 0.00 CDK5RAP3 80279 genome.wustl.edu 37 17 46048633 46048633 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 46048633 46048633 C G SNP CDK5RAP3 ENST00000583363 human ensembl 70_37 +1 known missense c.121 p.P41A 0.042 NULL NULL - no_errors CDK5RAP3 HGNC ENSG00000108465 67 19 22.09 55 0 0.00 CDK5RAP3 80279 genome.wustl.edu 37 17 46052532 46052532 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46052532 46052532 C G SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 160 35 17.95 212 0 0.00 CDK5RAP3 80279 genome.wustl.edu 37 17 46052645 46052645 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46052645 46052645 C A SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known missense c.455 p.A152E 0.985 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 103 42 28.97 165 0 0.00 CDK5RAP3 80279 genome.wustl.edu 37 17 46053338 46053338 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 46053338 46053338 C T SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known missense c.757 p.P253S 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 31 46 59.74 49 0 0.00 CDK5RAP3 80279 genome.wustl.edu 37 17 46054077 46054077 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 46054077 46054077 G A SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known splice_site c.799-1 e9-1 1.000 - - - no_errors CDK5RAP3 HGNC ENSG00000108465 67 18 21.18 69 0 0.00 CDK6 1021 genome.wustl.edu 37 7 92300823 92300823 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 92300823 92300823 G A SNP CDK6 ENST00000265734 human ensembl 70_37 -1 known silent c.564 p.P188 0.130 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK6 HGNC ENSG00000105810 36 32 47.06 23 0 0.00 CDK6 1021 genome.wustl.edu 37 7 92462443 92462443 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 92462443 92462443 C T SNP CDK6 ENST00000265734 human ensembl 70_37 -1 known silent c.195 p.L65 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK6 HGNC ENSG00000105810 14 5 26.32 29 0 0.00 CDK7 1022 genome.wustl.edu 37 5 68530841 68530841 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 68530841 68530841 G A SNP CDK7 ENST00000256443 human ensembl 70_37 +1 known silent c.39 p.E13 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK7 HGNC ENSG00000134058 28 27 49.09 45 0 0.00 CDK8 1024 genome.wustl.edu 37 13 26959424 26959424 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 26959424 26959424 C T SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known silent c.591 p.F197 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK8 HGNC ENSG00000132964 95 12 11.21 136 0 0.00 CDK8 1024 genome.wustl.edu 37 13 26974624 26974624 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 26974624 26974624 G A SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known missense c.968 p.R323Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK8 HGNC ENSG00000132964 33 26 44.07 62 0 0.00 CDK8 1024 genome.wustl.edu 37 13 26978201 26978201 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 26978201 26978201 C G SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known missense c.1378 p.Q460E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK8 HGNC ENSG00000132964 23 17 42.50 28 0 0.00 CDKAL1 54901 genome.wustl.edu 37 6 20649602 20649602 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 20649602 20649602 C T SNP CDKAL1 ENST00000274695 human ensembl 70_37 +1 known missense c.365 p.S122L 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 111 32 22.22 96 0 0.00 CDKL1 8814 genome.wustl.edu 37 14 50809653 50809653 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50809653 50809653 C T SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors CDKL1 HGNC ENSG00000100490 18 18 50.00 24 0 0.00 CDKL1 8814 genome.wustl.edu 37 14 50844422 50844422 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 50844422 50844422 G A SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDKL1 HGNC ENSG00000100490 96 18 15.79 106 0 0.00 CDKL1 8814 genome.wustl.edu 37 14 50845055 50845055 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50845055 50845055 G A SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors CDKL1 HGNC ENSG00000100490 35 18 33.96 29 0 0.00 CDKL2 8999 genome.wustl.edu 37 4 76522182 76522182 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 76522182 76522182 G A SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known missense c.1259 p.S420F 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL2 HGNC ENSG00000138769 34 4 10.53 67 0 0.00 CDKL2 8999 genome.wustl.edu 37 4 76523295 76523295 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 76523295 76523295 G A SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known missense c.986 p.S329F 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL2 HGNC ENSG00000138769 15 11 42.31 69 0 0.00 CDKL2 8999 genome.wustl.edu 37 4 76529028 76529028 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76529028 76529028 G C SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known silent c.768 p.L256 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL2 HGNC ENSG00000138769 38 12 24.00 51 0 0.00 CDKL3 51265 genome.wustl.edu 37 5 133644410 133644410 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 133644410 133644410 G A SNP CDKL3 ENST00000265334 human ensembl 70_37 -1 known missense c.890 p.P297L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL3 HGNC ENSG00000006837 28 13 31.71 25 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18593569 18593569 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 18593569 18593569 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.241 p.R81W 0.994 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 54 7 11.48 43 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18622091 18622091 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18622091 18622091 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1047 p.L349 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 31 17 35.42 51 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18622091 18622091 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 18622091 18622091 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1047 p.L349 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 22 10 31.25 39 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18622355 18622355 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 18622355 18622355 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1311 p.N437 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 137 68 33.01 265 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18627006 18627006 + Missense_Mutation SNP T T A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 18627006 18627006 T A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.2020 p.S674T 0.993 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 39 32 45.07 82 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18627007 18627007 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 18627007 18627007 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.2021 p.S674F 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 38 33 46.48 82 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18668690 18668690 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 18668690 18668690 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.2958 p.F986 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 55 7 11.29 60 0 0.00 CDKL5 6792 genome.wustl.edu 37 X 18671622 18671622 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18671622 18671622 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.3051 p.A1017 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC ENSG00000008086 37 12 24.49 43 0 0.00 CDKN1A 1026 genome.wustl.edu 37 6 36652134 36652134 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 36652134 36652134 C T SNP CDKN1A ENST00000448526 human ensembl 70_37 +1 known missense c.358 p.R120W 0.000 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 18 10 35.71 20 0 0.00 CDKN2A 1029 genome.wustl.edu 37 9 21971096 21971096 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 21971096 21971096 C T SNP CDKN2A ENST00000361570 human ensembl 70_37 -1 known missense c.428 p.G143E 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 1 8 88.89 29 0 0.00 CDKN2A 1029 genome.wustl.edu 37 9 21974669 21974669 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 21974669 21974669 C G SNP CDKN2A ENST00000380151 human ensembl 70_37 -1 known missense c.158 p.R53T 0.006 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 18 11 37.93 34 0 0.00 CDKN2A 1029 genome.wustl.edu 37 9 21974735 21974735 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 21974735 21974735 A C SNP CDKN2A ENST00000446177 human ensembl 70_37 -1 known missense c.92 p.L31R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 11 10 47.62 17 0 0.00 CDKN2A 1029 genome.wustl.edu 37 9 21994297 21994297 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 21994297 21994297 G A SNP CDKN2A ENST00000361570 human ensembl 70_37 -1 known missense c.157 p.R53W 0.269 pfam_Cyclin_kinase-Inhib_2A pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 17 4 19.05 15 0 0.00 CDKN2AIP 55602 genome.wustl.edu 37 4 184367300 184367300 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 184367300 184367300 G C SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known missense c.463 p.E155Q 0.999 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 14 5 26.32 42 0 0.00 CDKN2AIP 55602 genome.wustl.edu 37 4 184367413 184367413 + Silent SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 4 184367413 184367413 G C SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known silent c.576 p.R192 0.316 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 64 33 34.02 77 0 0.00 CDKN2AIP 55602 genome.wustl.edu 37 4 184367811 184367811 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 184367811 184367811 C T SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known missense c.974 p.S325L 1.000 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 33 24 42.11 112 0 0.00 CDKN2AIP 55602 genome.wustl.edu 37 4 184368433 184368433 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 184368433 184368433 G A SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known silent c.1596 p.L532 0.994 pfscan_Ds-RNA-bd pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 7 6 46.15 15 0 0.00 CDKN2B 1030 genome.wustl.edu 37 9 22008871 22008871 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 22008871 22008871 C G SNP CDKN2B ENST00000276925 human ensembl 70_37 -1 known missense c.82 p.E28Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2B HGNC ENSG00000147883 31 11 26.19 25 0 0.00 CDNF 441549 genome.wustl.edu 37 10 14879934 14879934 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 14879934 14879934 C T SNP CDNF ENST00000465530 human ensembl 70_37 -1 known silent c.12 p.A4 0.000 NULL pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 7 15 68.18 25 0 0.00 CDO1 1036 genome.wustl.edu 37 5 115146870 115146870 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 115146870 115146870 C A SNP CDO1 ENST00000250535 human ensembl 70_37 -1 known missense c.391 p.A131S 1.000 pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 83 15 15.31 64 0 0.00 CDO1 1036 genome.wustl.edu 37 5 115152070 115152070 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 115152070 115152070 G T SNP CDO1 ENST00000250535 human ensembl 70_37 -1 known missense c.25 p.P9T 1.000 pfam_Cys_dOase_I,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 34 5 12.82 20 0 0.00 CDON 50937 genome.wustl.edu 37 11 125850955 125850955 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 125850955 125850955 G T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.3265 p.H1089N 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 15 16 51.61 39 0 0.00 CDON 50937 genome.wustl.edu 37 11 125853858 125853858 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 125853858 125853858 G A SNP CDON ENST00000392693 human ensembl 70_37 -1 known silent c.2904 p.I968 0.398 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 47 22 31.88 85 0 0.00 CDON 50937 genome.wustl.edu 37 11 125880590 125880590 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 125880590 125880590 C G SNP CDON ENST00000392693 human ensembl 70_37 -1 known splice_site c.1199-1 e7-1 0.993 - - - no_errors CDON HGNC ENSG00000064309 17 7 29.17 20 0 0.00 CDON 50937 genome.wustl.edu 37 11 125887079 125887079 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 125887079 125887079 C T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.832 p.D278N 0.321 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 38 25 39.68 74 0 0.00 CDON 50937 genome.wustl.edu 37 11 125893310 125893310 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125893310 125893310 G T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.62 p.S21Y 0.398 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC ENSG00000064309 13 15 53.57 18 0 0.00 CDPF1 150383 genome.wustl.edu 37 22 46641057 46641057 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 22 46641057 46641057 G A SNP CDPF1 ENST00000314567 human ensembl 70_37 -1 novel missense c.304 p.R102W 0.681 pfam_Cys-rich_DPF pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC ENSG00000205643 24 26 52.00 70 0 0.00 CDR1 1038 genome.wustl.edu 37 X 139866366 139866366 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 139866366 139866366 C A SNP CDR1 ENST00000370532 human ensembl 70_37 -1 known missense c.166 p.D56Y 0.002 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 50 26 34.21 174 0 0.00 CDR2 1039 genome.wustl.edu 37 16 22359077 22359077 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 22359077 22359077 C G SNP CDR2 ENST00000268383 human ensembl 70_37 -1 known missense c.574 p.E192Q 0.984 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 129 50 27.62 206 0 0.00 CDR2 1039 genome.wustl.edu 37 16 22361024 22361024 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 22361024 22361024 C T SNP CDR2 ENST00000268383 human ensembl 70_37 -1 known silent c.339 p.L113 0.995 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 56 21 27.27 77 0 0.00 CDR2L 30850 genome.wustl.edu 37 17 72995616 72995616 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 72995616 72995616 G C SNP CDR2L ENST00000337231 human ensembl 70_37 +1 known missense c.97 p.E33Q 1.000 NULL NULL - no_errors CDR2L HGNC ENSG00000109089 36 74 67.27 160 0 0.00 CDRT1 374286 genome.wustl.edu 37 17 15519028 15519028 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 15519028 15519028 G C SNP CDRT1 ENST00000395906 human ensembl 70_37 -1 known missense c.601 p.Q201E 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 19 44 69.84 131 0 0.00 CDRT4 284040 genome.wustl.edu 37 17 15341337 15341337 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 15341337 15341337 G A SNP CDRT4 ENST00000312177 human ensembl 70_37 -1 known missense c.209 p.S70F 0.001 superfamily_RNA_pol_subH/Rpb5_C superfamily_RNA_pol_subH/Rpb5_C - no_errors CDRT4 HGNC ENSG00000239704 30 18 37.50 59 0 0.00 CDS2 8760 genome.wustl.edu 37 20 5169736 5169736 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 5169736 5169736 C T SNP CDS2 ENST00000460006 human ensembl 70_37 +1 known silent c.1005 p.F335 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 63 20 24.10 69 0 0.00 CDS2 8760 genome.wustl.edu 37 20 5171875 5171875 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5171875 5171875 C G SNP CDS2 ENST00000379070 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CDS2 HGNC ENSG00000101290 8 6 42.86 14 0 0.00 CDT1 81620 genome.wustl.edu 37 16 88871169 88871169 + Splice_Site SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88871169 88871169 G T SNP CDT1 ENST00000301019 human ensembl 70_37 +1 known splice_site c.352-1 e3-1 0.020 - - - no_errors CDT1 HGNC ENSG00000167513 48 14 22.58 82 0 0.00 CDT1 81620 genome.wustl.edu 37 16 88871284 88871284 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88871284 88871284 G A SNP CDT1 ENST00000301019 human ensembl 70_37 +1 known missense c.466 p.E156K 0.000 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 21 16 43.24 27 0 0.00 CDX2 1045 genome.wustl.edu 37 13 28539078 28539078 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 28539078 28539078 G A SNP CDX2 ENST00000381020 human ensembl 70_37 -1 known missense c.616 p.H206Y 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 81 21 20.59 118 0 0.00 CDX2 1045 genome.wustl.edu 37 13 28542887 28542887 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 13 28542887 28542887 G A SNP CDX2 ENST00000381020 human ensembl 70_37 -1 known missense c.257 p.A86V 0.075 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 1 3 75.00 16 0 0.00 CDX4 1046 genome.wustl.edu 37 X 72667526 72667526 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e X 72667526 72667526 C G SNP CDX4 ENST00000373514 human ensembl 70_37 +1 known missense c.437 p.A146G 0.545 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 67 22 24.72 62 0 0.00 CDX4 1046 genome.wustl.edu 37 X 72674416 72674416 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 72674416 72674416 G A SNP CDX4 ENST00000373514 human ensembl 70_37 +1 known missense c.850 p.E284K 0.997 NULL pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 17 8 32.00 27 0 0.00 CDYL 9425 genome.wustl.edu 37 6 4773344 4773344 + RNA SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 4773344 4773344 G C SNP CDYL ENST00000483019 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CDYL HGNC ENSG00000153046 48 7 12.73 25 0 0.00 CEACAM1 634 genome.wustl.edu 37 19 43016551 43016551 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43016551 43016551 G A SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.1327 p.L443 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC ENSG00000079385 33 17 34.00 32 0 0.00 CEACAM1 634 genome.wustl.edu 37 19 43023356 43023356 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 43023356 43023356 G A SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.990 p.I330 0.013 pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC ENSG00000079385 31 28 47.46 66 0 0.00 CEACAM1 634 genome.wustl.edu 37 19 43031407 43031407 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 43031407 43031407 C G SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.210 p.G70 0.004 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC ENSG00000079385 125 15 10.64 117 1 0.85 CEACAM16 388551 genome.wustl.edu 37 19 45213775 45213775 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 45213775 45213775 G T SNP CEACAM16 ENST00000405314 human ensembl 70_37 +1 known silent c.1275 p.G425 0.919 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM16 HGNC ENSG00000213892 86 61 41.50 163 0 0.00 CEACAM18 729767 genome.wustl.edu 37 19 51981896 51981896 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 51981896 51981896 C G SNP CEACAM18 ENST00000451626 human ensembl 70_37 +1 known silent c.183 p.L61 0.022 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC ENSG00000213822 48 16 25.00 67 0 0.00 CEACAM18 729767 genome.wustl.edu 37 19 51986481 51986481 + Missense_Mutation SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 51986481 51986481 G A SNP CEACAM18 ENST00000451626 human ensembl 70_37 +1 known missense c.1067 p.R356Q 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC ENSG00000213822 31 29 48.33 61 0 0.00 CEACAM20 125931 genome.wustl.edu 37 19 45015098 45015098 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 45015098 45015098 G C SNP CEACAM20 ENST00000316962 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CEACAM20 HGNC ENSG00000176395 42 21 33.33 42 0 0.00 CEACAM20 125931 genome.wustl.edu 37 19 45029244 45029244 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 45029244 45029244 G A SNP CEACAM20 ENST00000316962 human ensembl 70_37 -1 known rna NULL NULL 0.131 - - - no_errors CEACAM20 HGNC ENSG00000176395 49 16 24.62 75 0 0.00 CEACAM21 90273 genome.wustl.edu 37 19 42092925 42092925 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 42092925 42092925 G A SNP CEACAM21 ENST00000482870 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CEACAM21 HGNC ENSG00000007129 60 19 24.05 78 0 0.00 CEACAM5 1048 genome.wustl.edu 37 19 42221434 42221434 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 42221434 42221434 C T SNP CEACAM5 ENST00000221992 human ensembl 70_37 +1 known missense c.1019 p.A340V 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM5 HGNC ENSG00000105388 51 90 63.83 110 0 0.00 CEACAM5 1048 genome.wustl.edu 37 19 42225080 42225080 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 42225080 42225080 G C SNP CEACAM5 ENST00000221992 human ensembl 70_37 +1 known missense c.2010 p.K670N 0.005 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM5 HGNC ENSG00000105388 24 5 17.24 50 0 0.00 CEACAM6 4680 genome.wustl.edu 37 19 42259575 42259575 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42259575 42259575 G A SNP CEACAM6 ENST00000199764 human ensembl 70_37 +1 known missense c.29 p.R10K 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM6 HGNC ENSG00000086548 23 23 50.00 44 0 0.00 CEACAM7 1087 genome.wustl.edu 37 19 42191081 42191081 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 42191081 42191081 C T SNP CEACAM7 ENST00000006724 human ensembl 70_37 -1 known missense c.136 p.A46T 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CEACAM7 HGNC ENSG00000007306 55 26 32.10 71 0 0.00 CEACAM8 1088 genome.wustl.edu 37 19 43093155 43093155 + Missense_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 43093155 43093155 T A SNP CEACAM8 ENST00000244336 human ensembl 70_37 -1 known missense c.739 p.T247S 0.001 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC ENSG00000124469 92 18 16.36 102 1 0.97 CEACAM8 1088 genome.wustl.edu 37 19 43093883 43093883 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 43093883 43093883 C G SNP CEACAM8 ENST00000244336 human ensembl 70_37 -1 known missense c.429 p.E143D 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC ENSG00000124469 110 103 48.36 119 0 0.00 CEACAMP10 1098 genome.wustl.edu 37 19 43719419 43719419 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 43719419 43719419 G A SNP CEACAMP10 ENST00000489959 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors CEACAMP10 HGNC ENSG00000241104 14 9 39.13 25 0 0.00 CEACAMP3 1092 genome.wustl.edu 37 19 42111668 42111668 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 42111668 42111668 G C SNP CEACAMP3 ENST00000473762 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CEACAMP3 HGNC ENSG00000239736 82 30 26.09 35 0 0.00 CEBPA 1050 genome.wustl.edu 37 19 33792306 33792306 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 33792306 33792306 G A SNP CEBPA ENST00000498907 human ensembl 70_37 -1 known missense c.1015 p.R339W 1.000 smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC ENSG00000245848 62 37 37.37 64 0 0.00 CEBPA 1050 genome.wustl.edu 37 19 33792481 33792481 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 33792481 33792481 C G SNP CEBPA ENST00000498907 human ensembl 70_37 -1 known missense c.840 p.K280N 1.000 smart_bZIP,pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC ENSG00000245848 23 7 23.33 43 0 0.00 CEBPZ 10153 genome.wustl.edu 37 2 37428918 37428919 + Frame_Shift_Ins INS - - T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 37428918 37428919 - T INS CEBPZ ENST00000234170 human ensembl 70_37 -1 known frame_shift_ins c.3154_3153 p.Q1051fs 0.990:0.984 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 36 14 28.00 33 0 0.00 CEBPZ 10153 genome.wustl.edu 37 2 37444136 37444136 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 37444136 37444136 G T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known silent c.2199 p.T733 0.997 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 26 18 40.91 28 0 0.00 CEBPZ 10153 genome.wustl.edu 37 2 37455944 37455944 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 37455944 37455944 C T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known missense c.392 p.S131N 0.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 13 6 31.58 38 0 0.00 CEBPZ 10153 genome.wustl.edu 37 2 37458672 37458672 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 37458672 37458672 C T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known silent c.39 p.K13 0.597 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 24 39 61.90 41 0 0.00 CECR1 51816 genome.wustl.edu 37 22 17670774 17670774 + RNA SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 17670774 17670774 A T SNP CECR1 ENST00000480276 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CECR1 HGNC ENSG00000093072 13 11 45.83 50 0 0.00 CECR1 51816 genome.wustl.edu 37 22 17672622 17672622 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 17672622 17672622 C T SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known missense c.832 p.E278K 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 33 10 23.26 25 0 0.00 CECR1 51816 genome.wustl.edu 37 22 17687984 17687984 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17687984 17687984 C G SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.001 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 73 32 30.48 80 0 0.00 CECR1 51816 genome.wustl.edu 37 22 17688135 17688135 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17688135 17688135 C T SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known nonsense c.368 p.W123* 1.000 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 58 50 46.30 80 0 0.00 CECR2 27443 genome.wustl.edu 37 22 17907428 17907428 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 17907428 17907428 G A SNP CECR2 ENST00000497534 human ensembl 70_37 +1 putative rna NULL NULL 0.283 - - - no_errors CECR2 HGNC ENSG00000099954 43 22 33.85 28 0 0.00 CECR2 27443 genome.wustl.edu 37 22 17976528 17976528 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 22 17976528 17976528 C T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel silent c.249 p.F83 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 42 25 37.31 100 0 0.00 CECR2 27443 genome.wustl.edu 37 22 17983929 17983929 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 17983929 17983929 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.685 p.E229Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 23 8 25.81 57 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18020198 18020198 + Nonsense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 18020198 18020198 G A SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel nonsense c.1527 p.W509* 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 33 29 46.77 106 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18021987 18021987 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 18021987 18021987 C G SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2089 p.Q697E 0.894 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 19 8 29.63 41 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18022027 18022027 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 18022027 18022027 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2129 p.G710V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 26 13 33.33 28 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18022027 18022027 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 18022027 18022027 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2129 p.G710V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 37 26 41.27 20 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18022113 18022113 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 18022113 18022113 C T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel nonsense c.2215 p.R739* 0.952 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 14 10 41.67 51 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18022454 18022454 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 18022454 18022454 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2556 p.Q852H 0.025 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 47 6 11.32 39 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18022482 18022482 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 18022482 18022482 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2584 p.E862Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 45 6 11.76 53 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18027888 18027888 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 18027888 18027888 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2845 p.E949Q 0.991 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 49 15 23.44 54 0 0.00 CECR2 27443 genome.wustl.edu 37 22 18028884 18028884 + Missense_Mutation SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 18028884 18028884 A G SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.3841 p.N1281D 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 56 9 13.64 76 0 0.00 CECR7 100130418 genome.wustl.edu 37 22 17525858 17525858 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 17525858 17525858 G A SNP CECR7 ENST00000414401 human ensembl 70_37 +1 known rna NULL NULL 0.891 - - - no_errors CECR7 HGNC ENSG00000237438 72 43 37.39 97 0 0.00 CEL 1056 genome.wustl.edu 37 9 135942276 135942276 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 9 135942276 135942276 G A SNP CEL ENST00000372080 human ensembl 70_37 +1 known missense c.730 p.G244S 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 62 12 16.22 61 0 0.00 CEL 1056 genome.wustl.edu 37 9 135945997 135945997 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 9 135945997 135945997 C T SNP CEL ENST00000372080 human ensembl 70_37 +1 known missense c.1445 p.T482I 0.994 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 44 5 10.20 44 0 0.00 CEL 1056 genome.wustl.edu 37 9 135946536 135946536 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 135946536 135946536 G A SNP CEL ENST00000372080 human ensembl 70_37 +1 known silent c.1656 p.L552 0.972 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 38 6 13.64 44 0 0.00 CEL 1056 genome.wustl.edu 37 9 135947029 135947029 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 135947029 135947029 G A SNP CEL ENST00000372080 human ensembl 70_37 +1 known missense c.2149 p.V717M 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 10 3 23.08 26 0 0.00 CELA2A 63036 genome.wustl.edu 37 1 15783232 15783232 + RNA SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 15783232 15783232 A G SNP CELA2A ENST00000459653 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CELA2A HGNC ENSG00000142615 130 24 15.48 108 0 0.00 CELA2A 63036 genome.wustl.edu 37 1 15789917 15789917 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 15789917 15789917 C T SNP CELA2A ENST00000359621 human ensembl 70_37 +1 known silent c.393 p.V131 0.289 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2A HGNC ENSG00000142615 45 16 26.23 104 0 0.00 CELA2B 51032 genome.wustl.edu 37 1 15807647 15807647 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 15807647 15807647 C A SNP CELA2B ENST00000375910 human ensembl 70_37 +1 known missense c.184 p.L62M 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 43 12 21.82 52 0 0.00 CELA3A 10136 genome.wustl.edu 37 1 22329499 22329499 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22329499 22329499 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known missense c.47 p.S16L 0.750 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 21 28 57.14 26 0 0.00 CELA3A 10136 genome.wustl.edu 37 1 22329579 22329579 + Nonsense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 22329579 22329579 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 67 9 11.84 76 0 0.00 CELA3A 10136 genome.wustl.edu 37 1 22333386 22333386 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 22333386 22333386 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known silent c.378 p.L126 0.010 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 34 25 42.37 69 0 0.00 CELF1 10658 genome.wustl.edu 37 11 47510459 47510459 + Silent SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 47510459 47510459 G A SNP CELF1 ENST00000532048 human ensembl 70_37 -1 known silent c.189 p.F63 0.992 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 25 28 52.83 55 0 0.00 CELF2 10659 genome.wustl.edu 37 10 11299828 11299828 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 11299828 11299828 G C SNP CELF2 ENST00000450189 human ensembl 70_37 +1 known silent c.531 p.L177 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 31 11 26.19 54 0 0.00 CELF2 10659 genome.wustl.edu 37 10 11308601 11308601 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 11308601 11308601 G A SNP CELF2 ENST00000450189 human ensembl 70_37 +1 known silent c.579 p.Q193 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 120 52 29.89 154 1 0.65 CELF3 11189 genome.wustl.edu 37 1 151681484 151681484 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 151681484 151681484 C T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.476 p.R159Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 39 8 17.02 35 0 0.00 CELF3 11189 genome.wustl.edu 37 1 151681738 151681738 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 151681738 151681738 C T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.364 p.D122N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 31 8 20.51 36 0 0.00 CELF3 11189 genome.wustl.edu 37 1 151681743 151681743 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 151681743 151681743 G T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.359 p.T120N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 32 9 21.95 35 0 0.00 CELF4 56853 genome.wustl.edu 37 18 34839128 34839128 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 18 34839128 34839128 G C SNP CELF4 ENST00000588597 human ensembl 70_37 -1 novel missense c.1313 p.S438W 1.000 pfam_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 29 4 12.12 27 0 0.00 CELF4 56853 genome.wustl.edu 37 18 34855193 34855193 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 34855193 34855193 G A SNP CELF4 ENST00000591282 human ensembl 70_37 -1 known silent c.462 p.L154 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 81 25 23.58 99 0 0.00 CELF5 60680 genome.wustl.edu 37 19 3224933 3224933 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 3224933 3224933 G C SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known missense c.196 p.E66Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 27 7 20.59 42 0 0.00 CELF5 60680 genome.wustl.edu 37 19 3282169 3282169 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 3282169 3282169 C G SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known missense c.796 p.L266V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 51 14 21.54 63 0 0.00 CELF5 60680 genome.wustl.edu 37 19 3290270 3290270 + Nonsense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 19 3290270 3290270 G T SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known nonsense c.1228 p.E410* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 69 10 12.66 52 0 0.00 CELF6 60677 genome.wustl.edu 37 15 72580886 72580886 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 72580886 72580886 C G SNP CELF6 ENST00000569547 human ensembl 70_37 -1 known missense c.1167 p.Q389H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 HGNC ENSG00000140488 48 28 36.84 46 0 0.00 CELF6 60677 genome.wustl.edu 37 15 72582590 72582590 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 72582590 72582590 C T SNP CELF6 ENST00000569547 human ensembl 70_37 -1 known missense c.401 p.R134Q 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 HGNC ENSG00000140488 35 10 22.22 61 0 0.00 CELP 1057 genome.wustl.edu 37 9 135960308 135960308 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 9 135960308 135960308 C T SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CELP HGNC ENSG00000170827 11 10 47.62 9 0 0.00 CELP 1057 genome.wustl.edu 37 9 135960313 135960313 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135960313 135960313 C T SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.316 - - - no_errors CELP HGNC ENSG00000170827 27 12 30.77 9 0 0.00 CELP 1057 genome.wustl.edu 37 9 135962465 135962465 + RNA DEL T T - TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 135962465 135962465 T - DEL CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CELP HGNC ENSG00000170827 15 8 34.78 8 0 0.00 CELP 1057 genome.wustl.edu 37 9 135962599 135962600 + RNA INS - - G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 9 135962599 135962600 - G INS CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.184:0.043 - - - no_errors CELP HGNC ENSG00000170827 4 2 33.33 15 0 0.00 CELP 1057 genome.wustl.edu 37 9 135962600 135962601 + RNA INS - - T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 9 135962600 135962601 - T INS CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.043:0.023 - - - no_errors CELP HGNC ENSG00000170827 4 2 33.33 13 0 0.00 CELP 1057 genome.wustl.edu 37 9 135962664 135962664 + RNA SNP G G C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 135962664 135962664 G C SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CELP HGNC ENSG00000170827 10 8 44.44 11 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46760101 46760101 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 46760101 46760101 C T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.8827 p.E2943K 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 28 6 17.14 24 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46760469 46760469 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 46760469 46760469 C T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.8719 p.D2907N 0.055 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 61 7 10.29 61 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46777897 46777897 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 22 46777897 46777897 G A SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.6934 p.R2312C 0.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 26 14 35.00 19 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46780440 46780440 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 46780440 46780440 C G SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.6883 p.E2295Q 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 27 9 25.00 41 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46787540 46787540 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 46787540 46787540 G A SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known silent c.6138 p.L2046 0.000 smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 86 25 22.52 105 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46790106 46790106 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 22 46790106 46790106 C T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.5897 p.C1966Y 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 12 14 53.85 45 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46829324 46829325 + Frame_Shift_Ins INS - - TG TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 46829324 46829325 - TG INS CELSR1 ENST00000262738 human ensembl 70_37 -1 known frame_shift_ins c.4577_4576 p.R1526fs 0.985:0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 17 10 37.04 39 0 0.00 CELSR1 9620 genome.wustl.edu 37 22 46931242 46931242 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 46931242 46931242 G T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.1826 p.S609Y 0.112 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 28 14 33.33 37 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109792735 109792736 + In_Frame_Ins INS - - CGC TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 109792735 109792736 - CGC INS CELSR2 ENST00000271332 human ensembl 70_37 +1 known in_frame_ins c.34_35 p.16in_frame_insP 0.060:0.468 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 18 2 10.00 20 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109792835 109792835 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109792835 109792835 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.134 p.R45Q 0.226 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 7 3 30.00 10 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109793090 109793090 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109793090 109793090 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.389 p.T130I 0.183 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 18 14 43.75 26 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109793863 109793863 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 109793863 109793863 T C SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.1162 p.S388P 0.013 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 80 24 23.08 85 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109794627 109794627 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 109794627 109794627 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.1926 p.V642 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 153 86 35.98 203 1 0.49 CELSR2 1952 genome.wustl.edu 37 1 109795251 109795251 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 109795251 109795251 C G SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.2550 p.V850 0.880 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 51 8 13.56 29 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109801411 109801411 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 109801411 109801411 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.3668 p.R1223H 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 6 5 45.45 19 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109803758 109803758 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109803758 109803758 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.4053 p.F1351 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 37 20 35.09 54 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109813168 109813168 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 109813168 109813168 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.7429 p.G2477S 0.993 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 34 27 44.26 66 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109814995 109814995 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 109814995 109814995 G C SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.8022 p.K2674N 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 205 36 14.94 256 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109815025 109815025 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 109815025 109815025 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.8052 p.L2684 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 21 14 40.00 31 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109815538 109815538 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 109815538 109815538 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.8227 p.E2743K 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 22 11 33.33 14 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109816586 109816586 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109816586 109816586 C T SNP CELSR2 ENST00000498157 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors CELSR2 HGNC ENSG00000143126 5 7 58.33 33 0 0.00 CELSR2 1952 genome.wustl.edu 37 1 109817461 109817461 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109817461 109817461 A - DEL CELSR2 ENST00000491918 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CELSR2 HGNC ENSG00000143126 53 19 26.39 66 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48678853 48678853 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 48678853 48678853 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.8944 p.D2982N 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 13 10 43.48 32 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48679399 48679399 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 48679399 48679399 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.8724 p.E2908 0.948 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 45 12 21.05 44 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48680447 48680447 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 48680447 48680447 G C SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.8374 p.L2792V 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 19 4 17.39 27 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48681729 48681729 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48681729 48681729 C G SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known splice_site c.8101-1 e28-1 1.000 - - - no_errors CELSR3 HGNC ENSG00000008300 21 10 32.26 36 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48689423 48689423 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 48689423 48689423 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.5810 p.R1937Q 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 15 7 31.82 31 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48697842 48697842 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 48697842 48697842 G A SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.2226 p.V742 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 25 10 28.57 28 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48698441 48698441 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 48698441 48698441 G T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.1627 p.P543T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 33 5 13.16 33 0 0.00 CELSR3 1951 genome.wustl.edu 37 3 48699501 48699501 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 48699501 48699501 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.567 p.R189 0.001 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 154 49 24.14 259 0 0.00 CEND1 51286 genome.wustl.edu 37 11 788163 788163 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 788163 788163 C T SNP CEND1 ENST00000330106 human ensembl 70_37 -1 known silent c.414 p.L138 0.959 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 23 26 53.06 38 0 0.00 CEND1 51286 genome.wustl.edu 37 11 788486 788486 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 788486 788486 C T SNP CEND1 ENST00000330106 human ensembl 70_37 -1 known missense c.91 p.D31N 0.604 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 106 19 15.20 185 0 0.00 CENPB 1059 genome.wustl.edu 37 20 3766324 3766324 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 3766324 3766324 G A SNP CENPB ENST00000379751 human ensembl 70_37 -1 known silent c.807 p.V269 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 16 2 10.53 20 0 0.00 CENPBD1 92806 genome.wustl.edu 37 16 90038052 90038052 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 90038052 90038052 C T SNP CENPBD1 ENST00000314994 human ensembl 70_37 -1 known silent c.279 p.L93 0.002 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 11 5 31.25 23 0 0.00 CENPC 1060 genome.wustl.edu 37 4 68384053 68384053 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68384053 68384053 T G SNP CENPC1 ENST00000273853 human ensembl 70_37 -1 known missense c.651 p.K217N 0.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC1 HGNC ENSG00000145241 19 4 17.39 30 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104027424 104027424 + Nonsense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 4 104027424 104027424 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known nonsense c.8061 p.W2687* 0.009 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 15 3 16.67 48 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104035655 104035655 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 104035655 104035655 C G SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.7497 p.L2499F 0.857 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 77 13 14.44 111 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104061469 104061469 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 104061469 104061469 G C SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.5857 p.Q1953E 0.003 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 32 14 30.43 37 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104065773 104065773 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 104065773 104065773 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.4860 p.M1620I 0.475 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 21 17 44.74 43 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104067180 104067180 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 104067180 104067180 C A SNP CENPE ENST00000265148 human ensembl 70_37 -1 known nonsense c.4219 p.E1407* 0.995 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 56 19 25.33 90 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104068764 104068764 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104068764 104068764 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.3883 p.V1295M 0.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 43 12 21.82 66 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104070090 104070090 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 104070090 104070090 C G SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.3754 p.D1252H 0.993 superfamily_STAT_TF_coiled-coil pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 52 32 38.10 125 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104080379 104080379 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104080379 104080379 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.2389 p.E797K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 36 5 12.20 40 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104082602 104082602 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 104082602 104082602 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.1855 p.D619N 0.610 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 23 7 23.33 51 0 0.00 CENPE 1062 genome.wustl.edu 37 4 104084651 104084651 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 104084651 104084651 A T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known nonsense c.1707 p.Y569* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 11 3 21.43 17 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214788402 214788402 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214788402 214788402 G A SNP CENPF ENST00000464322 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CENPF HGNC ENSG00000117724 9 13 59.09 15 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214792495 214792495 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 214792495 214792495 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known nonsense c.505 p.E169* 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 19 13 40.62 60 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214794046 214794046 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 214794046 214794046 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.622 p.A208S 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 25 10 28.57 56 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214813659 214813659 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214813659 214813659 G A SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.1978 p.E660K 0.820 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 7 10 58.82 13 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214814304 214814304 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 214814304 214814304 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.2623 p.Q875E 0.758 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 5 7 58.33 22 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214816097 214816097 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 214816097 214816097 C T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known silent c.4416 p.L1472 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 34 13 27.66 50 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214816201 214816201 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 214816201 214816201 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.4520 p.S1507C 0.002 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 38 18 32.14 44 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214818772 214818772 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 214818772 214818772 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known silent c.5859 p.L1953 0.150 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 19 8 29.63 18 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214819778 214819778 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 214819778 214819778 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.6865 p.L2289V 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 18 10 35.71 31 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214820477 214820477 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 214820477 214820477 G A SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.7564 p.E2522K 0.835 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 9 11 55.00 19 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214830323 214830323 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 214830323 214830323 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known nonsense c.8533 p.E2845* 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 9 4 30.77 24 0 0.00 CENPF 1063 genome.wustl.edu 37 1 214830629 214830629 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 214830629 214830629 C T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.8839 p.P2947S 0.198 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 70 16 18.60 63 0 0.00 CENPI 2491 genome.wustl.edu 37 X 100356281 100356281 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 100356281 100356281 G A SNP CENPI ENST00000372927 human ensembl 70_37 +1 known silent c.222 p.E74 1.000 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 127 22 14.77 113 1 0.88 CENPI 2491 genome.wustl.edu 37 X 100382213 100382213 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 100382213 100382213 G A SNP CENPI ENST00000372927 human ensembl 70_37 +1 known silent c.864 p.L288 0.000 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 29 24 45.28 80 0 0.00 CENPI 2491 genome.wustl.edu 37 X 100402754 100402754 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 100402754 100402754 A G SNP CENPI ENST00000372927 human ensembl 70_37 +1 known missense c.1829 p.Y610C 0.997 NULL pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 45 13 22.41 44 0 0.00 CENPJ 55835 genome.wustl.edu 37 13 25458528 25458528 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 25458528 25458528 T C SNP CENPJ ENST00000381884 human ensembl 70_37 -1 known missense c.3551 p.D1184G 1.000 pfam_Tcp10_C_dom pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 21 3 12.50 52 0 0.00 CENPK 64105 genome.wustl.edu 37 5 64814369 64814369 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 64814369 64814369 C T SNP CENPK ENST00000242872 human ensembl 70_37 -1 known missense c.743 p.R248H 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 26 18 40.91 45 0 0.00 CENPM 79019 genome.wustl.edu 37 22 42343076 42343076 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 42343076 42343076 G A SNP CENPM ENST00000215980 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 pfam_Centromere_Cenp-M pfam_Centromere_Cenp-M - no_errors CENPM HGNC ENSG00000100162 15 4 21.05 30 0 0.00 CENPN 55839 genome.wustl.edu 37 16 81050974 81050974 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81050974 81050974 G C SNP CENPN ENST00000299572 human ensembl 70_37 +1 known missense c.261 p.Q87H 0.941 pfam_CHL4 pfam_CHL4 - no_errors CENPN HGNC ENSG00000166451 31 18 36.00 46 0 0.00 CENPO 79172 genome.wustl.edu 37 2 25022592 25022592 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25022592 25022592 G A SNP CENPO ENST00000260662 human ensembl 70_37 +1 known missense c.95 p.R32H 0.000 NULL pfam_Centromere_CenpO - no_errors CENPO HGNC ENSG00000138092 15 10 40.00 46 0 0.00 CENPQ 55166 genome.wustl.edu 37 6 49456095 49456095 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 49456095 49456095 G A SNP CENPQ ENST00000335783 human ensembl 70_37 +1 known missense c.508 p.E170K 0.126 NULL NULL - no_errors CENPQ HGNC ENSG00000031691 41 15 26.79 40 0 0.00 CENPT 80152 genome.wustl.edu 37 16 67863860 67863860 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67863860 67863860 C G SNP CENPT ENST00000219172 human ensembl 70_37 -1 known missense c.994 p.E332Q 0.000 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 38 9 19.15 101 0 0.00 CENPV 201161 genome.wustl.edu 37 17 16246152 16246152 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 16246152 16246152 G A SNP CENPV ENST00000299736 human ensembl 70_37 -1 known silent c.798 p.I266 1.000 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 57 53 48.18 73 0 0.00 CEP104 9731 genome.wustl.edu 37 1 3745850 3745850 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 3745850 3745850 C G SNP CEP104 ENST00000378230 human ensembl 70_37 -1 known missense c.2131 p.E711Q 0.891 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 106 28 20.90 152 0 0.00 CEP104 9731 genome.wustl.edu 37 1 3746490 3746490 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 3746490 3746490 C A SNP CEP104 ENST00000378230 human ensembl 70_37 -1 known missense c.1908 p.M636I 1.000 superfamily_ARM-type_fold superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 33 22 40.00 80 0 0.00 CEP104 9731 genome.wustl.edu 37 1 3759786 3759786 + Nonsense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 3759786 3759786 C T SNP CEP104 ENST00000378223 human ensembl 70_37 -1 known nonsense c.668 p.W223* 0.003 NULL superfamily_Galactose-bd-like - no_errors CEP104 HGNC ENSG00000116198 102 140 57.85 177 1 0.56 CEP112 201134 genome.wustl.edu 37 17 63739336 63739336 + Splice_Site SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 63739336 63739336 C T SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known splice_site c.2458-1 e22-1 1.000 - - - no_errors CEP112 HGNC ENSG00000154240 14 8 34.78 38 0 0.00 CEP112 201134 genome.wustl.edu 37 17 64001810 64001810 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 64001810 64001810 C G SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known missense c.1734 p.L578F 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 97 19 16.38 48 0 0.00 CEP112 201134 genome.wustl.edu 37 17 64025251 64025251 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 64025251 64025251 G A SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known missense c.1493 p.S498L 0.311 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 52 12 18.75 63 0 0.00 CEP112 201134 genome.wustl.edu 37 17 64092438 64092438 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 64092438 64092438 C T SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known silent c.699 p.P233 0.527 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 30 10 25.00 50 0 0.00 CEP120 153241 genome.wustl.edu 37 5 122734955 122734955 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 122734955 122734955 C G SNP CEP120 ENST00000306467 human ensembl 70_37 -1 known missense c.487 p.D163H 1.000 NULL pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 72 22 23.40 117 0 0.00 CEP120 153241 genome.wustl.edu 37 5 122754060 122754060 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 122754060 122754060 G A SNP CEP120 ENST00000306467 human ensembl 70_37 -1 known nonsense c.199 p.Q67* 1.000 pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 107 21 16.41 104 0 0.00 CEP128 145508 genome.wustl.edu 37 14 80971268 80971268 + Missense_Mutation SNP A A C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 80971268 80971268 A C SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.3168 p.F1056L 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 17 10 37.04 26 0 0.00 CEP128 145508 genome.wustl.edu 37 14 80971314 80971314 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 80971314 80971314 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.3122 p.S1041L 0.012 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 17 8 32.00 38 0 0.00 CEP128 145508 genome.wustl.edu 37 14 80993257 80993257 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 80993257 80993257 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known nonsense c.3028 p.Q1010* 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 40 27 40.30 75 0 0.00 CEP128 145508 genome.wustl.edu 37 14 80997191 80997191 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 80997191 80997191 C G SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.2920 p.E974Q 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 114 24 17.27 69 0 0.00 CEP128 145508 genome.wustl.edu 37 14 81259223 81259223 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 81259223 81259223 C T SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.1441 p.D481N 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 39 21 35.00 62 0 0.00 CEP128 145508 genome.wustl.edu 37 14 81259400 81259400 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 81259400 81259400 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known nonsense c.1264 p.R422* 0.997 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 99 62 38.51 187 0 0.00 CEP135 9662 genome.wustl.edu 37 4 56820461 56820461 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 56820461 56820461 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known silent c.384 p.L128 0.971 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 19 6 24.00 22 0 0.00 CEP135 9662 genome.wustl.edu 37 4 56831889 56831889 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 56831889 56831889 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.908 p.S303C 0.276 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 26 13 33.33 32 0 0.00 CEP135 9662 genome.wustl.edu 37 4 56831889 56831889 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 56831889 56831889 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.908 p.S303C 0.276 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 57 22 27.85 62 0 0.00 CEP135 9662 genome.wustl.edu 37 4 56847537 56847537 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 56847537 56847537 A T SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known nonsense c.1771 p.K591* 1.000 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 29 7 19.44 49 0 0.00 CEP135 9662 genome.wustl.edu 37 4 56858218 56858218 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 56858218 56858218 C T SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.1976 p.S659L 1.000 NULL superfamily_Prefoldin - no_errors CEP135 HGNC ENSG00000174799 52 27 34.18 72 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49030519 49030519 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 49030519 49030519 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.5060 p.S1687L 0.036 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 27 13 32.50 86 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49031343 49031343 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 49031343 49031343 C T SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known silent c.4236 p.K1412 0.153 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 20 23 53.49 78 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49048135 49048135 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 49048135 49048135 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known silent c.3310 p.L1104 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 196 71 26.59 257 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49074351 49074351 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 49074351 49074351 C T SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.1398 p.M466I 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 27 15 35.71 35 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49076266 49076266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 49076266 49076266 G C SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.1225 p.Q409E 0.887 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 29 12 29.27 40 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49085632 49085632 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 49085632 49085632 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known nonsense c.718 p.Q240* 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 66 12 15.38 40 0 0.00 CEP152 22995 genome.wustl.edu 37 15 49090193 49090193 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 49090193 49090193 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.143 p.S48F 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 25 16 39.02 32 0 0.00 CEP164 22897 genome.wustl.edu 37 11 117242155 117242155 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 117242155 117242155 G T SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known silent c.1125 p.L375 0.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 29 4 12.12 26 0 0.00 CEP164 22897 genome.wustl.edu 37 11 117265190 117265190 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 117265190 117265190 G A SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.2741 p.R914Q 0.505 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 31 22 41.51 50 0 0.00 CEP164 22897 genome.wustl.edu 37 11 117265684 117265684 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 117265684 117265684 G C SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.2809 p.D937H 0.803 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 6 35 85.37 59 0 0.00 CEP164 22897 genome.wustl.edu 37 11 117266344 117266344 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 117266344 117266344 G T SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known nonsense c.2995 p.E999* 0.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 12 8 40.00 14 0 0.00 CEP164 22897 genome.wustl.edu 37 11 117278703 117278703 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 117278703 117278703 G C SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.3564 p.K1188N 1.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 48 16 25.00 40 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243289744 243289744 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 243289744 243289744 G A SNP CEP170 ENST00000466495 human ensembl 70_37 -1 known rna NULL NULL 0.206 - - - no_errors CEP170 HGNC ENSG00000143702 32 14 30.43 37 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243303301 243303301 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 243303301 243303301 G A SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known nonsense c.4168 p.Q1390* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 60 27 31.03 76 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243319566 243319566 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 243319566 243319566 C G SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3868 p.D1290H 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 65 31 32.29 95 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243327601 243327601 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 243327601 243327601 G C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3661 p.H1221D 0.994 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 24 4 14.29 33 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243328008 243328008 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 243328008 243328008 G A SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3254 p.S1085L 0.934 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 82 21 20.39 125 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243349710 243349710 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 243349710 243349710 C T SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.1123 p.D375N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 56 24 29.63 62 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243354474 243354474 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 243354474 243354474 G C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.954 p.D318E 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 70 53 43.09 102 0 0.00 CEP170 9859 genome.wustl.edu 37 1 243388488 243388488 + Missense_Mutation SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 243388488 243388488 A C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.95 p.L32R 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 32 25 43.86 62 0 0.00 CEP19 84984 genome.wustl.edu 37 3 196434423 196434423 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 196434423 196434423 C T SNP CEP19 ENST00000409690 human ensembl 70_37 -1 known silent c.503 p.*168 1.000 NULL NULL - no_errors CEP19 HGNC ENSG00000174007 33 23 41.07 61 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13049779 13049779 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 13049779 13049779 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2906 p.S969F 0.995 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 12 9 42.86 27 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13049781 13049781 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 13049781 13049781 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2908 p.P970S 0.994 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 12 7 35.00 27 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13049854 13049854 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 13049854 13049854 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2981 p.S994C 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 22 8 26.67 22 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13068385 13068385 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 13068385 13068385 C A SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.4786 p.L1596I 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 10 9 47.37 14 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13072797 13072797 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 13072797 13072797 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.5392 p.Q1798E 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 31 27 46.55 55 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13099491 13099491 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 13099491 13099491 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.6574 p.L2192F 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 84 32 27.59 167 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13100368 13100368 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 13100368 13100368 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.6728 p.S2243C 0.775 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 18 11 37.93 18 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13114219 13114219 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13114219 13114219 G C SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.7258 p.A2420P 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 216 61 22.02 280 0 0.00 CEP192 55125 genome.wustl.edu 37 18 13114219 13114219 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13114219 13114219 G C SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.7258 p.A2420P 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 34 14 29.17 34 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34054842 34054842 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 20 34054842 34054842 C T SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.544 p.R182W 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 25 21 45.65 34 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34055251 34055251 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 34055251 34055251 G T SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.722 p.R241L 0.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 25 10 28.57 30 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34079140 34079140 + Nonsense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 20 34079140 34079140 C T SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known nonsense c.2857 p.Q953* 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 38 7 15.56 45 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34090757 34090757 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34090757 34090757 G A SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known silent c.4560 p.Q1520 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 14 9 39.13 27 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34095599 34095599 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34095599 34095599 G C SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.6669 p.E2223D 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 27 26 49.06 25 0 0.00 CEP250 11190 genome.wustl.edu 37 20 34096011 34096011 + Missense_Mutation SNP T T A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 34096011 34096011 T A SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.6898 p.L2300M 0.974 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 49 25 33.78 27 0 0.00 CEP290 80184 genome.wustl.edu 37 12 88523611 88523611 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 88523611 88523611 C T SNP CEP290 ENST00000309041 human ensembl 70_37 -1 known missense c.712 p.E238K 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 23 12 34.29 50 0 0.00 CEP290 80184 genome.wustl.edu 37 12 88534775 88534775 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 88534775 88534775 T G SNP CEP290 ENST00000309041 human ensembl 70_37 -1 known missense c.138 p.E46D 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 15 14 48.28 45 0 0.00 CEP350 9857 genome.wustl.edu 37 1 179961214 179961214 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 179961214 179961214 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.253 p.D85N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 45 6 11.76 48 0 0.00 CEP350 9857 genome.wustl.edu 37 1 179965887 179965887 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 179965887 179965887 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.595 p.D199N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 26 4 13.33 25 0 0.00 CEP350 9857 genome.wustl.edu 37 1 179989083 179989083 + Splice_Site SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 179989083 179989083 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known splice_site c.2175-1 e11-1 1.000 - - - no_errors CEP350 HGNC ENSG00000135837 186 32 14.61 229 0 0.00 CEP350 9857 genome.wustl.edu 37 1 179993679 179993679 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179993679 179993679 C G SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.3512 p.S1171C 0.998 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 23 9 28.12 44 0 0.00 CEP350 9857 genome.wustl.edu 37 1 180013197 180013197 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 180013197 180013197 C G SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.4511 p.S1504C 0.976 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 44 7 13.73 36 0 0.00 CEP350 9857 genome.wustl.edu 37 1 180017795 180017795 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 180017795 180017795 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.4747 p.D1583N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 27 21 43.75 36 0 0.00 CEP350 9857 genome.wustl.edu 37 1 180053269 180053269 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 180053269 180053269 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.6241 p.E2081Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 26 22 45.83 39 0 0.00 CEP350 9857 genome.wustl.edu 37 1 180062302 180062302 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 180062302 180062302 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.7062 p.K2354N 0.361 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 17 3 15.00 22 0 0.00 CEP350 9857 genome.wustl.edu 37 1 180063347 180063347 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 180063347 180063347 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.8107 p.E2703Q 0.001 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 12 4 25.00 20 0 0.00 CEP41 95681 genome.wustl.edu 37 7 130040635 130040635 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 130040635 130040635 G C SNP CEP41 ENST00000223208 human ensembl 70_37 -1 known missense c.670 p.L224V 0.958 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 4 38 90.48 44 0 0.00 CEP41 95681 genome.wustl.edu 37 7 130056775 130056775 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 130056775 130056775 C T SNP CEP41 ENST00000223208 human ensembl 70_37 -1 known missense c.130 p.E44K 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 26 8 23.53 22 0 0.00 CEP44 80817 genome.wustl.edu 37 4 175224923 175224923 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 4 175224923 175224923 G A SNP CEP44 ENST00000426172 human ensembl 70_37 +1 known missense c.307 p.E103K 1.000 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 38 24 38.71 44 0 0.00 CEP55 55165 genome.wustl.edu 37 10 95262912 95262912 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 95262912 95262912 C G SNP CEP55 ENST00000371485 human ensembl 70_37 +1 known missense c.226 p.Q76E 0.029 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 38 7 15.56 34 0 0.00 CEP57 9702 genome.wustl.edu 37 11 95532468 95532468 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 95532468 95532468 C A SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.118 p.P40T 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 10 3 23.08 19 0 0.00 CEP57 9702 genome.wustl.edu 37 11 95546186 95546186 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 95546186 95546186 C G SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.293 p.S98C 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 18 12 40.00 11 0 0.00 CEP57 9702 genome.wustl.edu 37 11 95564259 95564259 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 95564259 95564259 A G SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.1342 p.R448G 0.986 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 25 10 28.57 25 0 0.00 CEP57 9702 genome.wustl.edu 37 11 95564411 95564411 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 95564411 95564411 G C SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.1494 p.W498C 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 12 16 57.14 19 0 0.00 CEP57L1 285753 genome.wustl.edu 37 6 109471422 109471422 + Missense_Mutation SNP A A C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 109471422 109471422 A C SNP CEP57L1 ENST00000359793 human ensembl 70_37 +1 known missense c.442 p.N148H 0.951 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 16 5 23.81 29 0 0.00 CEP63 80254 genome.wustl.edu 37 3 134256086 134256086 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 134256086 134256086 G T SNP CEP63 ENST00000337090 human ensembl 70_37 +1 known silent c.531 p.L177 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 35 4 10.26 29 0 0.00 CEP63 80254 genome.wustl.edu 37 3 134278115 134278115 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 134278115 134278115 G A SNP CEP63 ENST00000337090 human ensembl 70_37 +1 known silent c.1797 p.L599 0.303 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 64 20 23.53 36 0 0.00 CEP68 23177 genome.wustl.edu 37 2 65298779 65298779 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 65298779 65298779 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known silent c.549 p.S183 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 33 6 15.38 51 0 0.00 CEP68 23177 genome.wustl.edu 37 2 65299104 65299104 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 65299104 65299104 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known missense c.874 p.L292V 0.964 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 15 10 40.00 29 0 0.00 CEP68 23177 genome.wustl.edu 37 2 65305035 65305035 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 65305035 65305035 C G SNP CEP68 ENST00000377990 human ensembl 70_37 +1 known missense c.2041 p.L681V 0.999 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 31 23 42.59 62 0 0.00 CEP70 80321 genome.wustl.edu 37 3 138248112 138248112 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138248112 138248112 G C SNP CEP70 ENST00000264982 human ensembl 70_37 -1 known silent c.798 p.L266 0.076 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 82 24 22.64 39 0 0.00 CEP70 80321 genome.wustl.edu 37 3 138256028 138256028 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 138256028 138256028 C A SNP CEP70 ENST00000264982 human ensembl 70_37 -1 known missense c.627 p.L209F 1.000 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 37 5 11.90 33 0 0.00 CEP70 80321 genome.wustl.edu 37 3 138256057 138256057 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 138256057 138256057 G A SNP CEP70 ENST00000264982 human ensembl 70_37 -1 known silent c.598 p.L200 0.986 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 21 33 61.11 31 0 0.00 CEP72 55722 genome.wustl.edu 37 5 624663 624663 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 624663 624663 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 158 22 12.22 86 0 0.00 CEP72 55722 genome.wustl.edu 37 5 633995 633995 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 633995 633995 C T SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known silent c.624 p.L208 0.949 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 77 29 27.36 54 0 0.00 CEP72 55722 genome.wustl.edu 37 5 635548 635548 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 635548 635548 G A SNP CEP72 ENST00000444221 human ensembl 70_37 +1 known missense c.574 p.G192R 0.057 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 126 21 14.29 55 0 0.00 CEP72 55722 genome.wustl.edu 37 5 635651 635651 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 635651 635651 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.856 p.E286Q 0.042 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 53 11 17.19 30 0 0.00 CEP72 55722 genome.wustl.edu 37 5 644446 644446 + Missense_Mutation SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 644446 644446 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.1572 p.L524F 1.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 64 35 35.35 30 0 0.00 CEP76 79959 genome.wustl.edu 37 18 12678430 12678430 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 12678430 12678430 T G SNP CEP76 ENST00000262127 human ensembl 70_37 -1 known missense c.1301 p.K434T 0.977 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP76 HGNC ENSG00000101624 6 3 30.00 16 0 0.00 CEP76 79959 genome.wustl.edu 37 18 12699876 12699876 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 12699876 12699876 G C SNP CEP76 ENST00000262127 human ensembl 70_37 -1 known missense c.248 p.S83C 0.996 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP76 HGNC ENSG00000101624 48 29 37.66 40 0 0.00 CEP78 84131 genome.wustl.edu 37 9 80855103 80855103 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 80855103 80855103 C T SNP CEP78 ENST00000376597 human ensembl 70_37 +1 known silent c.418 p.L140 0.136 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 42 22 34.38 53 0 0.00 CEP85 64793 genome.wustl.edu 37 1 26603650 26603650 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 26603650 26603650 G C SNP CEP85 ENST00000252992 human ensembl 70_37 +1 known missense c.2155 p.D719H 0.999 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 253 84 24.93 351 0 0.00 CEP85 64793 genome.wustl.edu 37 1 26603883 26603884 + RNA INS - - AA TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 26603883 26603884 - AA INS CEP85 ENST00000469609 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.004 - - - no_errors CEP85 HGNC ENSG00000130695 59 7 10.61 57 0 0.00 CEP85 64793 genome.wustl.edu 37 1 26603964 26603964 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 26603964 26603964 G T SNP CEP85 ENST00000469609 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CEP85 HGNC ENSG00000130695 32 4 11.11 34 0 0.00 CEP85L 387119 genome.wustl.edu 37 6 118786573 118786573 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 118786573 118786573 G C SNP CEP85L ENST00000368488 human ensembl 70_37 -1 known missense c.2422 p.Q808E 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 39 19 32.76 65 0 0.00 CEP89 84902 genome.wustl.edu 37 19 33370085 33370085 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 33370085 33370085 G A SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.2335 p.H779Y 0.001 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 22 10 31.25 23 0 0.00 CEP89 84902 genome.wustl.edu 37 19 33417123 33417123 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 33417123 33417123 C G SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.1137 p.E379D 1.000 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 45 26 36.11 46 0 0.00 CEP89 84902 genome.wustl.edu 37 19 33444634 33444634 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 33444634 33444634 C G SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.379 p.E127Q 0.994 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 163 47 22.38 236 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62506320 62506320 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 62506320 62506320 G C SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.178 p.D60H 0.995 superfamily_CH-domain superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 45 44 49.44 117 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62510458 62510458 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 62510458 62510458 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.349 p.E117K 1.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 55 49 47.12 74 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62517642 62517642 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 62517642 62517642 G C SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.712 p.D238H 0.780 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 131 22 14.38 136 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62529078 62529078 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 62529078 62529078 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.1794 p.K598 0.004 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 32 33 50.77 28 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62529078 62529078 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 62529078 62529078 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.1794 p.K598 0.004 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 40 32 43.84 71 0 0.00 CEP95 90799 genome.wustl.edu 37 17 62533224 62533224 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 62533224 62533224 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.2283 p.Q761 0.992 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 7 6 46.15 9 0 0.00 CEP97 79598 genome.wustl.edu 37 3 101447778 101447778 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 101447778 101447778 G A SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known silent c.444 p.L148 0.975 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 67 21 23.86 91 0 0.00 CEP97 79598 genome.wustl.edu 37 3 101475947 101475947 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 101475947 101475947 G C SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known missense c.934 p.E312Q 0.994 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 68 37 35.24 91 0 0.00 CEP97 79598 genome.wustl.edu 37 3 101476538 101476538 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 101476538 101476538 C T SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known missense c.1088 p.A363V 1.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 13 9 40.91 39 0 0.00 CEPT1 10390 genome.wustl.edu 37 1 111703575 111703576 + RNA INS - - A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 111703575 111703576 - A INS CEPT1 ENST00000480324 human ensembl 70_37 +1 known rna NULL NULL 0.073:0.207 - - - no_errors CEPT1 HGNC ENSG00000134255 17 2 10.53 16 0 0.00 CEPT1 10390 genome.wustl.edu 37 1 111721817 111721817 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 111721817 111721817 G T SNP CEPT1 ENST00000467362 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CEPT1 HGNC ENSG00000134255 16 4 20.00 27 0 0.00 CEPT1 10390 genome.wustl.edu 37 1 111724619 111724619 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 111724619 111724619 C G SNP CEPT1 ENST00000467362 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CEPT1 HGNC ENSG00000134255 49 26 34.67 43 0 0.00 CEPT1 10390 genome.wustl.edu 37 1 111725406 111725406 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 111725406 111725406 C G SNP CEPT1 ENST00000483427 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CEPT1 HGNC ENSG00000134255 11 8 42.11 40 0 0.00 CEPT1 10390 genome.wustl.edu 37 1 111727358 111727358 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 111727358 111727358 G A SNP CEPT1 ENST00000467362 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CEPT1 HGNC ENSG00000134255 14 13 48.15 17 0 0.00 CERCAM 51148 genome.wustl.edu 37 9 131186429 131186429 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 131186429 131186429 G C SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.439 p.D147H 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 32 19 37.25 31 0 0.00 CERCAM 51148 genome.wustl.edu 37 9 131186797 131186797 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131186797 131186797 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.670 p.E224K 0.945 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 45 52 53.61 33 0 0.00 CERCAM 51148 genome.wustl.edu 37 9 131193546 131193546 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131193546 131193546 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known silent c.1167 p.V389 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 93 32 25.40 52 0 0.00 CERCAM 51148 genome.wustl.edu 37 9 131196417 131196417 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 131196417 131196417 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.1240 p.E414K 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 21 12 35.29 33 0 0.00 CERK 64781 genome.wustl.edu 37 22 47083041 47083041 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 47083041 47083041 G A SNP CERK ENST00000216264 human ensembl 70_37 -1 known missense c.1604 p.S535L 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 35 8 18.60 53 0 0.00 CERK 64781 genome.wustl.edu 37 22 47089360 47089360 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 47089360 47089360 C T SNP CERK ENST00000216264 human ensembl 70_37 -1 known missense c.1090 p.E364K 0.970 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 23 25 52.08 55 0 0.00 CERK 64781 genome.wustl.edu 37 22 47103759 47103759 + Silent SNP C C G TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 22 47103759 47103759 C G SNP CERK ENST00000216264 human ensembl 70_37 -1 known silent c.696 p.R232 0.532 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 27 10 27.03 28 0 0.00 CERK 64781 genome.wustl.edu 37 22 47107008 47107008 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 47107008 47107008 C T SNP CERK ENST00000216264 human ensembl 70_37 -1 known missense c.544 p.E182K 0.987 pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 64 27 29.67 119 0 0.00 CERS2 29956 genome.wustl.edu 37 1 150936958 150936958 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150936958 150936958 G C SNP CERS2 ENST00000482825 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors CERS2 HGNC ENSG00000143418 25 12 32.43 37 0 0.00 CERS2 29956 genome.wustl.edu 37 1 150939634 150939634 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150939634 150939634 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.657 p.L219 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 30 15 33.33 31 0 0.00 CERS2 29956 genome.wustl.edu 37 1 150939640 150939640 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150939640 150939640 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.651 p.I217 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 28 15 34.88 32 0 0.00 CERS2 29956 genome.wustl.edu 37 1 150940615 150940615 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 150940615 150940615 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.354 p.F118 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeodomain pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 56 7 11.11 38 0 0.00 CERS3 204219 genome.wustl.edu 37 15 100942982 100942982 + Missense_Mutation SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 100942982 100942982 T C SNP CERS3 ENST00000284382 human ensembl 70_37 -1 known missense c.1088 p.D363G 0.846 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS3 HGNC ENSG00000154227 44 17 27.87 45 0 0.00 CERS3 204219 genome.wustl.edu 37 15 101042036 101042036 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101042036 101042036 C G SNP CERS3 ENST00000284382 human ensembl 70_37 -1 known missense c.19 p.E7Q 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS3 HGNC ENSG00000154227 37 14 27.45 22 0 0.00 CERS4 79603 genome.wustl.edu 37 19 8321838 8321838 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 8321838 8321838 C G SNP CERS4 ENST00000251363 human ensembl 70_37 +1 known missense c.618 p.F206L 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS4 HGNC ENSG00000090661 23 9 28.12 60 0 0.00 CERS5 91012 genome.wustl.edu 37 12 50528463 50528463 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 50528463 50528463 C T SNP CERS5 ENST00000317551 human ensembl 70_37 -1 known missense c.895 p.E299K 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS5 HGNC ENSG00000139624 151 26 14.69 140 0 0.00 CERS6-AS1 100861402 genome.wustl.edu 37 2 169629051 169629051 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 169629051 169629051 G A SNP CERS6-AS1 ENST00000425636 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CERS6-AS1 HGNC ENSG00000227617 50 7 12.28 88 0 0.00 CES1 1066 genome.wustl.edu 37 16 55844484 55844484 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 55844484 55844484 C G SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.1263 p.L421F 0.013 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 62 38 38.00 146 0 0.00 CES1 1066 genome.wustl.edu 37 16 55862856 55862856 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 55862856 55862856 T A SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.83 p.D28V 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 97 46 32.17 184 0 0.00 CES1 1066 genome.wustl.edu 37 16 55862859 55862859 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 55862859 55862859 A T SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.80 p.V27E 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 117 19 13.77 187 0 0.00 CES1P1 51716 genome.wustl.edu 37 16 55807361 55807361 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 55807361 55807361 G C SNP CES1P1 ENST00000571348 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CES1P1 HGNC ENSG00000228695 6 5 45.45 26 0 0.00 CES2 8824 genome.wustl.edu 37 16 66969530 66969530 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 66969530 66969530 G C SNP CES2 ENST00000317091 human ensembl 70_37 +1 known missense c.184 p.E62Q 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 74 26 26.00 78 0 0.00 CES3 23491 genome.wustl.edu 37 16 66995225 66995225 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 66995225 66995225 G A SNP CES3 ENST00000303334 human ensembl 70_37 +1 known silent c.15 p.V5 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 42 6 12.50 52 0 0.00 CES3 23491 genome.wustl.edu 37 16 66997226 66997226 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 66997226 66997226 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known nonsense c.227 p.S76* 0.994 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 42 31 42.47 86 0 0.00 CES3 23491 genome.wustl.edu 37 16 66998385 66998385 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 66998385 66998385 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known missense c.686 p.S229C 0.985 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 32 19 37.25 64 0 0.00 CES3 23491 genome.wustl.edu 37 16 67006823 67006823 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 67006823 67006823 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known missense c.1587 p.I529M 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 9 5 35.71 11 0 0.00 CES5A 221223 genome.wustl.edu 37 16 55883536 55883536 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 55883536 55883536 C T SNP CES5A ENST00000521992 human ensembl 70_37 -1 known missense c.1510 p.E504K 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 108 13 10.74 105 0 0.00 CES5A 221223 genome.wustl.edu 37 16 55886941 55886941 + Splice_Site SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 55886941 55886941 C T SNP CES5A ENST00000521992 human ensembl 70_37 -1 known splice_site c.1213-1 e11-1 0.631 - - - no_errors CES5A HGNC ENSG00000159398 6 27 81.82 46 0 0.00 CES5AP1 649264 genome.wustl.edu 37 22 23708516 23708516 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 23708516 23708516 A C SNP CES5AP1 ENST00000422151 human ensembl 70_37 -1 known rna NULL NULL 0.841 - - - no_errors CES5AP1 HGNC ENSG00000215478 54 8 12.90 51 0 0.00 CES5AP1 649264 genome.wustl.edu 37 22 23708532 23708532 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 23708532 23708532 T G SNP CES5AP1 ENST00000422151 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CES5AP1 HGNC ENSG00000215478 40 21 34.43 53 0 0.00 CETN1 1068 genome.wustl.edu 37 18 580567 580567 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 580567 580567 G A SNP CETN1 ENST00000327228 human ensembl 70_37 +1 known silent c.159 p.L53 0.991 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CETN1 HGNC ENSG00000177143 69 11 13.75 64 0 0.00 CETP 1071 genome.wustl.edu 37 16 57015564 57015564 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 57015564 57015564 C T SNP CETP ENST00000200676 human ensembl 70_37 +1 known missense c.1220 p.T407I 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 105 14 11.76 122 0 0.00 CETP 1071 genome.wustl.edu 37 16 57017521 57017521 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 57017521 57017521 G A SNP CETP ENST00000200676 human ensembl 70_37 +1 known silent c.1425 p.Q475 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 37 13 26.00 33 0 0.00 CFB 629 genome.wustl.edu 37 6 31918952 31918952 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31918952 31918952 A C SNP CFB ENST00000556679 human ensembl 70_37 +1 known missense c.3393 p.K1131N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 15 3 16.67 26 0 0.00 CFDP1 10428 genome.wustl.edu 37 16 75327731 75327732 + RNA INS - - A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 16 75327731 75327732 - A INS CFDP1 ENST00000570103 human ensembl 70_37 -1 known rna NULL NULL 0.904:0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 20 4 16.67 15 0 0.00 CFDP1 10428 genome.wustl.edu 37 16 75338926 75338926 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 75338926 75338926 C G SNP CFDP1 ENST00000283882 human ensembl 70_37 -1 known missense c.805 p.E269Q 1.000 pfam_BCNT pfam_BCNT - no_errors CFDP1 HGNC ENSG00000153774 39 27 40.91 74 0 0.00 CFDP1 10428 genome.wustl.edu 37 16 75445851 75445851 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 75445851 75445851 C T SNP CFDP1 ENST00000283882 human ensembl 70_37 -1 known splice_site c.403-1 e4-1 0.341 - - - no_errors CFDP1 HGNC ENSG00000153774 21 13 38.24 39 0 0.00 CFH 3075 genome.wustl.edu 37 1 196648881 196648881 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 196648881 196648881 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.748 p.V250I 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 40 9 18.37 47 0 0.00 CFH 3075 genome.wustl.edu 37 1 196694299 196694299 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 196694299 196694299 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.1745 p.R582H 0.005 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 11 4 26.67 17 0 0.00 CFH 3075 genome.wustl.edu 37 1 196695683 196695683 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 196695683 196695683 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.045 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 33 5 13.16 45 0 0.00 CFH 3075 genome.wustl.edu 37 1 196711155 196711155 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 196711155 196711155 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3107 p.R1036K 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 75 13 14.77 111 0 0.00 CFH 3075 genome.wustl.edu 37 1 196711179 196711179 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 196711179 196711179 G C SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3131 p.R1044T 0.979 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 34 5 12.82 42 0 0.00 CFH 3075 genome.wustl.edu 37 1 196716339 196716339 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 196716339 196716339 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3592 p.E1198K 0.996 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 60 18 23.08 100 0 0.00 CFHR1 3078 genome.wustl.edu 37 1 196801126 196801126 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 196801126 196801126 A C SNP CFHR1 ENST00000320493 human ensembl 70_37 +1 known missense c.990 p.R330S 0.000 superfamily_Complement_control_module pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 71 29 29.00 113 0 0.00 CFHR3 10878 genome.wustl.edu 37 1 196748399 196748399 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 196748399 196748399 G A SNP CFHR3 ENST00000367425 human ensembl 70_37 +1 known missense c.166 p.D56N 0.002 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 39 24 38.10 42 0 0.00 CFHR3 10878 genome.wustl.edu 37 1 196749069 196749069 + Missense_Mutation SNP A A T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 196749069 196749069 A T SNP CFHR3 ENST00000367425 human ensembl 70_37 +1 known missense c.396 p.K132N 0.008 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 30 24 44.44 32 0 0.00 CFHR4 10877 genome.wustl.edu 37 1 196876118 196876118 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 196876118 196876118 T G SNP CFHR4 ENST00000367416 human ensembl 70_37 +1 known missense c.564 p.D188E 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 33 25 43.10 102 0 0.00 CFHR4 10877 genome.wustl.edu 37 1 196884084 196884084 + Splice_Site SNP A A C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 196884084 196884084 A C SNP CFHR4 ENST00000367416 human ensembl 70_37 +1 known splice_site c.1355-2 e9-2 0.053 - - - no_errors CFHR4 HGNC ENSG00000134365 16 5 23.81 36 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196964876 196964876 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 196964876 196964876 C G SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.709 p.Q237E 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 22 19 46.34 47 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196965170 196965170 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 196965170 196965170 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.881 p.G294E 0.013 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 36 13 26.53 44 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196971786 196971786 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 196971786 196971786 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 62 24 27.91 95 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196971786 196971786 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 196971786 196971786 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 40 6 13.04 42 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196977674 196977674 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 196977674 196977674 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1643 p.R548K 0.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 15 16 51.61 24 0 0.00 CFHR5 81494 genome.wustl.edu 37 1 196977806 196977806 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 196977806 196977806 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1775 p.C592Y 0.415 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 27 5 15.62 24 0 0.00 CFI 3426 genome.wustl.edu 37 4 110667465 110667465 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 110667465 110667465 G A SNP CFI ENST00000394634 human ensembl 70_37 -1 known missense c.1342 p.R448C 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFI HGNC ENSG00000205403 52 32 38.10 56 0 0.00 CFI 3426 genome.wustl.edu 37 4 110678930 110678930 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 110678930 110678930 G A SNP CFI ENST00000394634 human ensembl 70_37 -1 known missense c.893 p.S298F 0.000 superfamily_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFI HGNC ENSG00000205403 36 16 30.77 47 0 0.00 CFL1P1 142913 genome.wustl.edu 37 10 89603785 89603785 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 89603785 89603785 G A SNP CFL1P1 ENST00000438248 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CFL1P1 HGNC ENSG00000223820 40 27 40.30 58 0 0.00 CFLAR-AS1 65072 genome.wustl.edu 37 2 202013792 202013792 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202013792 202013792 C G SNP CFLAR-AS1 ENST00000595372 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CFLAR-AS1 HGNC ENSG00000226312 33 12 26.67 49 0 0.00 CFLAR-AS1 65072 genome.wustl.edu 37 2 202014626 202014626 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202014626 202014626 C T SNP CFLAR-AS1 ENST00000593896 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CFLAR-AS1 HGNC ENSG00000226312 24 6 20.00 20 0 0.00 CFP 5199 genome.wustl.edu 37 X 47486553 47486553 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 47486553 47486553 C A SNP CFP ENST00000247153 human ensembl 70_37 -1 known silent c.753 p.L251 0.955 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 56 16 22.22 45 0 0.00 CFP 5199 genome.wustl.edu 37 X 47486559 47486559 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 47486559 47486559 G A SNP CFP ENST00000247153 human ensembl 70_37 -1 known silent c.747 p.T249 0.025 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 68 38 35.85 97 0 0.00 CFP 5199 genome.wustl.edu 37 X 47486689 47486689 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47486689 47486689 G A SNP CFP ENST00000247153 human ensembl 70_37 -1 known missense c.617 p.S206L 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 99 35 26.12 96 0 0.00 CFP 5199 genome.wustl.edu 37 X 47487588 47487588 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47487588 47487588 C G SNP CFP ENST00000247153 human ensembl 70_37 -1 known missense c.316 p.G106R 0.701 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 77 22 22.22 68 0 0.00 CFP 5199 genome.wustl.edu 37 X 47489267 47489267 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 47489267 47489267 C G SNP CFP ENST00000480317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CFP HGNC ENSG00000126759 13 6 31.58 33 0 0.00 CFTR 1080 genome.wustl.edu 37 7 117232394 117232394 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 117232394 117232394 G A SNP CFTR ENST00000003084 human ensembl 70_37 +1 known missense c.2173 p.E725K 0.996 tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 33 6 15.38 14 0 0.00 CFTR 1080 genome.wustl.edu 37 7 117232505 117232505 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 117232505 117232505 C T SNP CFTR ENST00000003084 human ensembl 70_37 +1 known nonsense c.2284 p.Q762* 0.071 tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 34 12 26.09 58 0 0.00 CFTR 1080 genome.wustl.edu 37 7 117251805 117251805 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 117251805 117251805 G T SNP CFTR ENST00000003084 human ensembl 70_37 +1 known nonsense c.3310 p.E1104* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 53 23 30.26 103 0 0.00 CFTR 1080 genome.wustl.edu 37 7 117251838 117251838 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 117251838 117251838 A G SNP CFTR ENST00000003084 human ensembl 70_37 +1 known missense c.3343 p.T1115A 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 43 52 54.74 61 0 0.00 CGA 1081 genome.wustl.edu 37 6 87795485 87795485 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 87795485 87795485 G C SNP CGA ENST00000369582 human ensembl 70_37 -1 known missense c.340 p.H114D 1.000 pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone - no_errors CGA HGNC ENSG00000135346 59 7 10.29 47 0 0.00 CGB1 114335 genome.wustl.edu 37 19 49538946 49538946 + Missense_Mutation SNP T T C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49538946 49538946 T C SNP CGB1 ENST00000301407 human ensembl 70_37 -1 known missense c.389 p.D130G 0.493 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC ENSG00000267631 73 43 37.07 135 0 0.00 CGB1 114335 genome.wustl.edu 37 19 49539053 49539053 + Silent SNP C C A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 49539053 49539053 C A SNP CGB1 ENST00000301407 human ensembl 70_37 -1 known silent c.282 p.V94 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC ENSG00000267631 56 28 33.33 47 0 0.00 CGB7 94027 genome.wustl.edu 37 19 49557662 49557662 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 49557662 49557662 C A SNP CGB7 ENST00000377280 human ensembl 70_37 -1 known missense c.384 p.L128F 0.731 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 89 59 39.86 124 0 0.00 CGB7 94027 genome.wustl.edu 37 19 49558222 49558222 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 49558222 49558222 G A SNP CGB7 ENST00000377280 human ensembl 70_37 -1 known missense c.59 p.A20V 0.880 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 111 35 23.97 127 0 0.00 CGB7 94027 genome.wustl.edu 37 19 49561977 49561977 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49561977 49561977 G T SNP CGB7 ENST00000598442 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CGB7 HGNC ENSG00000196337 43 8 15.69 45 0 0.00 CGN 57530 genome.wustl.edu 37 1 151491199 151491199 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151491199 151491199 C G SNP CGN ENST00000271636 human ensembl 70_37 +1 known silent c.204 p.L68 0.994 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 45 8 15.09 32 0 0.00 CGN 57530 genome.wustl.edu 37 1 151491314 151491314 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 151491314 151491314 C T SNP CGN ENST00000271636 human ensembl 70_37 +1 known nonsense c.319 p.Q107* 0.238 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 35 5 12.50 45 0 0.00 CGN 57530 genome.wustl.edu 37 1 151498167 151498167 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 151498167 151498167 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.1664 p.R555Q 0.980 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 50 8 13.79 51 0 0.00 CGN 57530 genome.wustl.edu 37 1 151508255 151508255 + Splice_Site SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 151508255 151508255 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known splice_site c.3079-1 e17-1 1.000 - - - no_errors CGN HGNC ENSG00000143375 32 8 20.00 49 0 0.00 CGN 57530 genome.wustl.edu 37 1 151508792 151508792 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 151508792 151508792 C T SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.3277 p.R1093W 0.966 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 37 31 45.59 40 0 0.00 CGN 57530 genome.wustl.edu 37 1 151508792 151508792 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 151508792 151508792 C T SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.3277 p.R1093W 0.966 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 49 23 31.94 38 0 0.00 CGN 57530 genome.wustl.edu 37 1 151509793 151509793 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 151509793 151509793 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.3583 p.E1195K 0.999 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 40 20 33.33 45 0 0.00 CGNL1 84952 genome.wustl.edu 37 15 57730626 57730626 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 57730626 57730626 G T SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known silent c.429 p.L143 0.989 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 9 3 25.00 25 0 0.00 CGNL1 84952 genome.wustl.edu 37 15 57754079 57754079 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 57754079 57754079 G A SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known missense c.2392 p.E798K 0.997 prints_Tropomyosin pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 9 8 47.06 38 0 0.00 CGNL1 84952 genome.wustl.edu 37 15 57837863 57837863 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 57837863 57837863 G A SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known missense c.3574 p.D1192N 1.000 pfam_Myosin_tail pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 19 7 26.92 39 0 0.00 CGREF1 10669 genome.wustl.edu 37 2 27322670 27322670 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27322670 27322670 C T SNP CGREF1 ENST00000452318 human ensembl 70_37 -1 known silent c.321 p.A107 0.000 NULL NULL - no_errors CGREF1 HGNC ENSG00000138028 12 17 58.62 23 0 0.00 CGRRF1 10668 genome.wustl.edu 37 14 54976708 54976708 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 54976708 54976708 G A SNP CGRRF1 ENST00000216420 human ensembl 70_37 +1 known missense c.31 p.E11K 0.998 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 88 25 22.12 46 0 0.00 CGRRF1 10668 genome.wustl.edu 37 14 54996927 54996927 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 54996927 54996927 C G SNP CGRRF1 ENST00000216420 human ensembl 70_37 +1 known silent c.405 p.L135 0.954 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 81 14 14.74 87 0 0.00 CH25H 9023 genome.wustl.edu 37 10 90967017 90967017 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 90967017 90967017 G A SNP CH25H ENST00000371852 human ensembl 70_37 -1 known silent c.33 p.V11 0.000 NULL pfam_Fatty_acid_hydroxylase - no_errors CH25H HGNC ENSG00000138135 17 5 22.73 8 0 0.00 CHADL 150356 genome.wustl.edu 37 22 41633589 41633589 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 41633589 41633589 G A SNP CHADL ENST00000216241 human ensembl 70_37 -1 known missense c.1487 p.A496V 0.163 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC ENSG00000100399 75 25 25.00 109 0 0.00 CHADL 150356 genome.wustl.edu 37 22 41634769 41634769 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41634769 41634769 C T SNP CHADL ENST00000216241 human ensembl 70_37 -1 known missense c.307 p.E103K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC ENSG00000100399 3 5 62.50 11 0 0.00 CHAF1A 10036 genome.wustl.edu 37 19 4405955 4405955 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 4405955 4405955 A G SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.99 p.I33M 1.000 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 24 6 20.00 61 0 0.00 CHAF1A 10036 genome.wustl.edu 37 19 4430573 4430573 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 4430573 4430573 G A SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.1882 p.E628K 1.000 pfam_CAF1A pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 131 30 18.63 147 0 0.00 CHAF1A 10036 genome.wustl.edu 37 19 4433403 4433403 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 4433403 4433403 C T SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.2540 p.S847L 0.175 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 26 11 29.73 24 0 0.00 CHAT 1103 genome.wustl.edu 37 10 50821494 50821494 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 50821494 50821494 C T SNP CHAT ENST00000497767 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CHAT HGNC ENSG00000070748 16 33 67.35 31 0 0.00 CHAT 1103 genome.wustl.edu 37 10 50833673 50833673 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 50833673 50833673 C T SNP CHAT ENST00000337653 human ensembl 70_37 +1 known missense c.907 p.H303Y 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 33 9 21.43 47 0 0.00 CHAT 1103 genome.wustl.edu 37 10 50854596 50854596 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 50854596 50854596 G T SNP CHAT ENST00000337653 human ensembl 70_37 +1 known missense c.1157 p.C386F 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 51 31 37.80 64 0 0.00 CHCHD2 51142 genome.wustl.edu 37 7 56174064 56174064 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 56174064 56174064 G C SNP CHCHD2 ENST00000395422 human ensembl 70_37 -1 known missense c.43 p.P15A 1.000 NULL pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 35 14 28.00 68 0 0.00 CHCHD3 54927 genome.wustl.edu 37 7 132481277 132481277 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 132481277 132481277 C A SNP CHCHD3 ENST00000262570 human ensembl 70_37 -1 known nonsense c.586 p.E196* 0.937 NULL pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 1 11 91.67 35 0 0.00 CHCHD4 131474 genome.wustl.edu 37 3 14154462 14154462 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 14154462 14154462 C T SNP CHCHD4 ENST00000295767 human ensembl 70_37 -1 known silent c.393 p.K131 0.001 NULL pfam_CHCH - no_errors CHCHD4 HGNC ENSG00000163528 41 5 10.87 25 0 0.00 CHCHD6 84303 genome.wustl.edu 37 3 126679200 126679200 + RNA SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 3 126679200 126679200 G A SNP CHCHD6 ENST00000504973 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CHCHD6 HGNC ENSG00000159685 7 15 68.18 29 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98192335 98192335 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 98192335 98192335 G A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.4882 p.H1628Y 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 33 11 25.00 43 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98204255 98204255 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 98204255 98204255 C T SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.4192 p.E1398K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 39 22 36.07 66 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98212254 98212254 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 98212254 98212254 G A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known silent c.3246 p.F1082 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 57 50 46.73 168 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98217695 98217695 + Missense_Mutation SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 5 98217695 98217695 C A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.2851 p.G951C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 23 40 63.49 70 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98229157 98229157 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 98229157 98229157 C G SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.1954 p.E652Q 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 25 23 47.92 42 0 0.00 CHD1 1105 genome.wustl.edu 37 5 98236756 98236756 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 98236756 98236756 A C SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known silent c.618 p.L206 0.986 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 14 10 41.67 36 0 0.00 CHD1L 9557 genome.wustl.edu 37 1 146756159 146756159 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 146756159 146756159 G A SNP CHD1L ENST00000369258 human ensembl 70_37 +1 known missense c.1841 p.R614Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 23 16 41.03 66 0 0.00 CHD1L 9557 genome.wustl.edu 37 1 146767152 146767152 + Nonsense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 146767152 146767152 C T SNP CHD1L ENST00000369258 human ensembl 70_37 +1 known nonsense c.2656 p.Q886* 0.379 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 8 3 27.27 20 0 0.00 CHD2 1106 genome.wustl.edu 37 15 93485094 93485094 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 93485094 93485094 C T SNP CHD2 ENST00000420239 human ensembl 70_37 +1 known silent c.735 p.L245 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 28 21 42.86 39 0 0.00 CHD2 1106 genome.wustl.edu 37 15 93515518 93515518 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 93515518 93515518 G A SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative silent c.2376 p.K792 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 36 7 16.28 40 0 0.00 CHD2 1106 genome.wustl.edu 37 15 93528871 93528871 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 93528871 93528871 C T SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative silent c.3381 p.L1127 0.399 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 124 19 13.29 109 0 0.00 CHD2 1106 genome.wustl.edu 37 15 93558026 93558026 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 93558026 93558026 C G SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative nonsense c.4793 p.S1598* 0.616 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 45 6 11.76 38 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7792996 7792996 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 7792996 7792996 C G SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.115 p.R39G 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 9 9 50.00 26 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7793747 7793748 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 7793747 7793748 - A INS CHD3 ENST00000574022 human ensembl 70_37 +1 known rna NULL NULL 0.217:0.454 - - - no_errors CHD3 HGNC ENSG00000170004 20 3 13.04 24 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7802458 7802458 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 7802458 7802458 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2281 p.D761N 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 35 18 33.96 47 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7802461 7802461 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7802461 7802461 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2284 p.E762K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 13 35 72.92 71 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7803244 7803244 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 7803244 7803244 C G SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2575 p.L859V 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 39 25 39.06 111 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7804021 7804021 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7804021 7804021 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2950 p.V984I 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 53 18 25.35 98 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7804195 7804195 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 7804195 7804195 C T SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known nonsense c.3004 p.R1002* 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 117 51 30.36 164 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7807175 7807175 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7807175 7807175 C A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.3760 p.H1254N 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 13 11 45.83 33 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7810527 7810527 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7810527 7810527 G C SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.4750 p.E1584Q 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 21 12 36.36 26 0 0.00 CHD3 1107 genome.wustl.edu 37 17 7814210 7814210 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7814210 7814210 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.5800 p.A1934T 0.968 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 29 21 42.00 49 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6687053 6687053 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6687053 6687053 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5343 p.Q1781 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 38 11 22.45 47 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6687669 6687669 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6687669 6687669 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5109 p.Q1703 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 6 8 57.14 17 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6687678 6687678 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6687678 6687678 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5100 p.V1700 0.980 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 6 8 57.14 18 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6690234 6690234 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6690234 6690234 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.4969 p.E1657K 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 70 77 52.38 91 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6690291 6690291 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 6690291 6690291 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.4912 p.E1638K 0.124 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 48 32 40.00 67 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6692280 6692280 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6692280 6692280 C G SNP CHD4 ENST00000357008 human ensembl 70_37 -1 known splice_site c.4061-1 e26-1 1.000 - - - no_errors CHD4 HGNC ENSG00000111642 12 17 58.62 34 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6701194 6701194 + Missense_Mutation SNP T T G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 6701194 6701194 T G SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.2978 p.N993T 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 11 15 57.69 24 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6703682 6703682 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 6703682 6703682 C G SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.2256 p.E752D 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 34 15 30.61 34 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6705248 6705248 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 6705248 6705248 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1948 p.D650N 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 14 16 53.33 48 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6707155 6707155 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 6707155 6707155 C G SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1797 p.K599N 1.000 superfamily_Chromodomain-like pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 57 21 26.92 66 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6709028 6709028 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6709028 6709028 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1393 p.D465N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 41 14 25.45 43 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6709699 6709699 + Splice_Site SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 6709699 6709699 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known splice_site c.1063+1 e7+1 1.000 - - - no_errors CHD4 HGNC ENSG00000111642 8 11 57.89 27 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6710828 6710828 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 6710828 6710828 G A SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.543 p.F181 1.000 pfam_CHD_N,superfamily_HMG_superfamily pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 489 77 13.51 706 0 0.00 CHD4 1108 genome.wustl.edu 37 12 6711619 6711619 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6711619 6711619 G C SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.145 p.P49A 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 33 7 17.50 34 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6169958 6169958 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 6169958 6169958 G C SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.5475 p.L1825 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 50 32 39.02 89 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6170487 6170487 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 6170487 6170487 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.5349 p.E1783 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 37 22 37.29 47 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6202574 6202574 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 6202574 6202574 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.2135 p.R712H 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 40 35 46.67 87 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6211203 6211203 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 6211203 6211203 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.883 p.E295K 0.959 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 23 9 28.12 33 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6214792 6214792 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 6214792 6214792 G A SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.673 p.P225S 0.930 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 36 22 37.93 45 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6214952 6214952 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6214952 6214952 G C SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.513 p.L171 0.997 pfam_CHD_N,superfamily_HMG_superfamily pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 62 9 12.68 100 0 0.00 CHD5 26038 genome.wustl.edu 37 1 6228322 6228323 + Frame_Shift_Ins INS - - CA TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 6228322 6228323 - CA INS CHD5 ENST00000262450 human ensembl 70_37 -1 known frame_shift_ins c.95_94 p.G32fs 1.000:1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 15 13 46.43 37 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40033628 40033628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 40033628 40033628 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7753 p.E2585K 0.991 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 171 45 20.83 257 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40034123 40034123 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 40034123 40034123 G A SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7258 p.L2420F 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 17 7 29.17 21 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40040787 40040787 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 40040787 40040787 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.7248 p.L2416 0.995 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 39 11 22.00 48 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40040818 40040818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 40040818 40040818 C G SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7217 p.R2406T 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 65 15 18.75 66 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40043882 40043882 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 40043882 40043882 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6883 p.E2295K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 19 9 32.14 38 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40044128 40044128 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 40044128 40044128 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6637 p.G2213R 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 41 7 14.58 26 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40045902 40045902 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 40045902 40045902 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6215 p.R2072Q 0.889 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 72 11 13.25 51 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40084593 40084593 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 40084593 40084593 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.2856 p.V952 0.991 pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 273 103 27.39 317 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40111954 40111954 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 40111954 40111954 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.2463 p.Q821 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 28 30 51.72 70 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40111980 40111980 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 40111980 40111980 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.2437 p.D813N 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 41 13 24.07 95 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40126000 40126001 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 40126000 40126001 - T INS CHD6 ENST00000470470 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors CHD6 HGNC ENSG00000124177 63 36 36.36 82 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40141618 40141618 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 40141618 40141618 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.719 p.R240K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 42 20 32.26 24 0 0.00 CHD6 84181 genome.wustl.edu 37 20 40192757 40192757 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 40192757 40192757 T C SNP CHD6 ENST00000373222 human ensembl 70_37 -1 known missense c.31 p.T11A 0.003 NULL NULL - no_errors CHD6 HGNC ENSG00000124177 28 21 42.86 30 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61654065 61654065 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 61654065 61654065 G A SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.74 p.G25E 0.998 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 41 13 23.64 27 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61693596 61693596 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 61693596 61693596 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.1703 p.P568L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 55 18 24.66 47 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61693914 61693914 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 61693914 61693914 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.2021 p.P674L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 11 10 47.62 16 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61707669 61707669 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 61707669 61707669 G A SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.2221 p.E741K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 22 7 24.14 25 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61735064 61735064 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 8 61735064 61735064 G A SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.2960 p.R987Q 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 25 9 26.47 32 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61736429 61736429 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 61736429 61736429 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.3232 p.H1078Y 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 31 10 24.39 62 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61750246 61750246 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 61750246 61750246 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.4205 p.R1402T 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 21 6 22.22 25 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61750671 61750671 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 61750671 61750671 C G SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.4390 p.L1464V 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 27 8 22.86 52 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61750713 61750713 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 61750713 61750713 G A SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.4432 p.E1478K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 17 15 46.88 31 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61765139 61765139 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 61765139 61765139 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.5977 p.D1993H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 22 4 15.38 23 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61765259 61765259 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 61765259 61765259 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6097 p.D2033H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 46 16 25.81 62 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61765871 61765871 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 61765871 61765871 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6587 p.T2196I 0.005 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 28 9 24.32 30 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61765871 61765871 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 61765871 61765871 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6587 p.T2196I 0.005 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 35 22 37.93 35 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61769043 61769043 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 61769043 61769043 A G SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.7204 p.R2402G 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 10 4 28.57 10 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61774767 61774767 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 61774767 61774767 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.7843 p.V2615L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 49 7 12.50 57 0 0.00 CHD7 55636 genome.wustl.edu 37 8 61778087 61778087 + Silent SNP T T C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 61778087 61778087 T C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known silent c.8589 p.A2863 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 13 4 23.53 22 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21861276 21861276 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 21861276 21861276 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.6457 p.E2153Q 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 7 17 70.83 52 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21861729 21861729 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21861729 21861729 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.6225 p.L2075F 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 22 5 17.86 29 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21868389 21868389 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21868389 21868389 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.4648 p.D1550H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 53 18 25.35 62 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21870148 21870148 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 21870148 21870148 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.4030 p.E1344K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 158 40 20.20 239 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21870187 21870187 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 21870187 21870187 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.3991 p.D1331H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 139 28 16.77 195 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21882483 21882483 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21882483 21882483 G C SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.2119 p.Q707E 1.000 superfamily_Chromodomain-like pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 35 22 38.60 50 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21884050 21884050 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 21884050 21884050 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.1733 p.R578H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 187 97 34.15 256 1 0.39 CHD8 57680 genome.wustl.edu 37 14 21884050 21884050 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 21884050 21884050 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.1733 p.R578H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 39 34 46.58 36 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21897286 21897287 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 21897286 21897287 - T INS CHD8 ENST00000399982 human ensembl 70_37 -1 known frame_shift_ins c.1052_1051 p.I351fs 1.000:0.998 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 145 80 35.56 170 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21899210 21899210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21899210 21899210 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.593 p.G198E 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 25 10 28.57 38 0 0.00 CHD8 57680 genome.wustl.edu 37 14 21899634 21899634 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 21899634 21899634 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.169 p.D57N 0.989 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 46 18 28.12 50 0 0.00 CHD9 80205 genome.wustl.edu 37 16 53243499 53243499 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 53243499 53243499 G C SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.1558 p.E520Q 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 18 15 45.45 19 0 0.00 CHD9 80205 genome.wustl.edu 37 16 53283964 53283964 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 53283964 53283964 C G SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.3847 p.Q1283E 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 1 13 92.86 36 0 0.00 CHD9 80205 genome.wustl.edu 37 16 53301906 53301906 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53301906 53301906 G A SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.4585 p.E1529K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 14 11 44.00 16 0 0.00 CHD9 80205 genome.wustl.edu 37 16 53331007 53331007 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 53331007 53331007 G C SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.5650 p.E1884Q 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 50 8 13.79 61 0 0.00 CHD9 80205 genome.wustl.edu 37 16 53341657 53341657 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 53341657 53341657 C G SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known nonsense c.6845 p.S2282* 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 60 18 23.08 71 0 0.00 CHDH 55349 genome.wustl.edu 37 3 53853588 53853588 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 3 53853588 53853588 G A SNP CHDH ENST00000315251 human ensembl 70_37 -1 known missense c.1234 p.R412W 1.000 pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 99 42 29.79 190 0 0.00 CHEK1 1111 genome.wustl.edu 37 11 125499337 125499337 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 125499337 125499337 C T SNP CHEK1 ENST00000438015 human ensembl 70_37 +1 known missense c.406 p.L136F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK1 HGNC ENSG00000149554 15 16 51.61 22 0 0.00 CHEK2 11200 genome.wustl.edu 37 22 29095918 29095918 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 22 29095918 29095918 C A SNP CHEK2 ENST00000382580 human ensembl 70_37 -1 known missense c.1045 p.G349W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK2 HGNC ENSG00000183765 28 11 28.21 65 0 0.00 CHERP 10523 genome.wustl.edu 37 19 16630141 16630141 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16630141 16630141 G A SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.2580 p.L860 0.851 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 48 13 21.31 57 0 0.00 CHERP 10523 genome.wustl.edu 37 19 16631642 16631642 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 16631642 16631642 C T SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.2196 p.R732 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 45 26 36.62 45 0 0.00 CHERP 10523 genome.wustl.edu 37 19 16636365 16636365 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 16636365 16636365 C T SNP CHERP ENST00000546361 human ensembl 70_37 -1 known missense c.1429 p.D477N 0.854 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 22 7 24.14 19 0 0.00 CHERP 10523 genome.wustl.edu 37 19 16640543 16640543 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 16640543 16640543 C G SNP CHERP ENST00000546361 human ensembl 70_37 -1 known missense c.1045 p.A349P 0.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 6 4 40.00 16 0 0.00 CHERP 10523 genome.wustl.edu 37 19 16643447 16643447 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 16643447 16643447 C A SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.636 p.L212 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 26 4 13.33 24 0 0.00 CHFR 55743 genome.wustl.edu 37 12 133446252 133446252 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 133446252 133446252 G A SNP CHFR ENST00000266880 human ensembl 70_37 -1 known missense c.572 p.S191F 0.997 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 48 21 30.43 69 0 0.00 CHFR 55743 genome.wustl.edu 37 12 133454168 133454168 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 133454168 133454168 G C SNP CHFR ENST00000266880 human ensembl 70_37 -1 known nonsense c.206 p.S69* 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 36 7 16.28 60 0 0.00 CHFR 55743 genome.wustl.edu 37 12 133485606 133485606 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 133485606 133485606 C G SNP CHFR ENST00000499045 human ensembl 70_37 -1 putative rna NULL NULL 0.020 - - - no_errors CHFR HGNC ENSG00000072609 58 7 10.77 32 0 0.00 CHGA 1113 genome.wustl.edu 37 14 93393957 93393957 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 93393957 93393957 C G SNP CHGA ENST00000216492 human ensembl 70_37 +1 known missense c.250 p.L84V 0.125 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 23 14 37.84 37 0 0.00 CHGA 1113 genome.wustl.edu 37 14 93396082 93396082 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 93396082 93396082 C T SNP CHGA ENST00000216492 human ensembl 70_37 +1 known nonsense c.277 p.Q93* 0.992 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 83 23 21.70 126 0 0.00 CHGA 1113 genome.wustl.edu 37 14 93397861 93397861 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 93397861 93397861 C T SNP CHGA ENST00000216492 human ensembl 70_37 +1 known nonsense c.622 p.Q208* 0.048 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 14 16 53.33 25 0 0.00 CHGB 1114 genome.wustl.edu 37 20 5903673 5903673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5903673 5903673 C G SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.883 p.Q295E 0.997 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 9 6 40.00 8 0 0.00 CHGB 1114 genome.wustl.edu 37 20 5904601 5904601 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 5904601 5904601 T C SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.1811 p.V604A 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 23 8 25.81 33 0 0.00 CHGB 1114 genome.wustl.edu 37 20 5905674 5905674 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 5905674 5905674 G C SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.2013 p.E671D 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 20 7 25.93 29 0 0.00 CHI3L1 1116 genome.wustl.edu 37 1 203148611 203148611 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 203148611 203148611 G A SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.1114 p.L372F 0.986 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 27 3 10.00 58 0 0.00 CHI3L1 1116 genome.wustl.edu 37 1 203150299 203150299 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203150299 203150299 G C SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.702 p.F234L 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 27 14 34.15 48 0 0.00 CHI3L1 1116 genome.wustl.edu 37 1 203152837 203152837 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 203152837 203152837 C G SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.397 p.D133H 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 82 41 33.33 112 0 0.00 CHI3L1 1116 genome.wustl.edu 37 1 203154457 203154457 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 203154457 203154457 C T SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.112 p.D38N 0.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 37 24 39.34 64 0 0.00 CHI3L2 1117 genome.wustl.edu 37 1 111777568 111777568 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 111777568 111777568 A T SNP CHI3L2 ENST00000369748 human ensembl 70_37 +1 known missense c.369 p.E123D 0.036 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 47 32 40.51 57 0 0.00 CHIA 27159 genome.wustl.edu 37 1 111854982 111854982 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 111854982 111854982 C G SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.226 p.L76V 0.996 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 15 17 53.12 40 0 0.00 CHIA 27159 genome.wustl.edu 37 1 111860363 111860363 + Missense_Mutation SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 111860363 111860363 A C SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.541 p.T181P 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 60 8 11.76 60 0 0.00 CHIA 27159 genome.wustl.edu 37 1 111861126 111861126 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 111861126 111861126 G A SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.741 p.M247I 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 32 6 15.79 53 0 0.00 CHIAP2 149620 genome.wustl.edu 37 1 111822697 111822697 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111822697 111822697 C G SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.685 - - - no_errors CHIAP2 HGNC ENSG00000203878 43 34 44.16 83 0 0.00 CHIAP2 149620 genome.wustl.edu 37 1 111824231 111824231 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 111824231 111824231 G A SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.928 - - - no_errors CHIAP2 HGNC ENSG00000203878 31 5 13.89 35 0 0.00 CHIAP2 149620 genome.wustl.edu 37 1 111825686 111825686 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111825686 111825686 C T SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 37 34 47.89 48 0 0.00 CHIAP2 149620 genome.wustl.edu 37 1 111828615 111828615 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111828615 111828615 G A SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors CHIAP2 HGNC ENSG00000203878 35 28 43.08 42 0 0.00 CHIC1 53344 genome.wustl.edu 37 X 72901073 72901073 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 72901073 72901073 C T SNP CHIC1 ENST00000498318 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CHIC1 HGNC ENSG00000204116 85 12 12.37 77 0 0.00 CHIC1 53344 genome.wustl.edu 37 X 72901147 72901147 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 72901147 72901147 G C SNP CHIC1 ENST00000498318 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIC1 HGNC ENSG00000204116 42 5 10.64 68 0 0.00 CHID1 66005 genome.wustl.edu 37 11 899391 899391 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 899391 899391 A G SNP CHID1 ENST00000323541 human ensembl 70_37 -1 known missense c.647 p.F216S 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHID1 HGNC ENSG00000177830 11 7 38.89 27 0 0.00 CHIT1 1118 genome.wustl.edu 37 1 203186868 203186868 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203186868 203186868 C G SNP CHIT1 ENST00000367229 human ensembl 70_37 -1 known silent c.1155 p.L385 0.483 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 56 35 38.46 61 0 0.00 CHKA 1119 genome.wustl.edu 37 11 67832053 67832053 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67832053 67832053 C T SNP CHKA ENST00000265689 human ensembl 70_37 -1 known missense c.1171 p.E391K 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC ENSG00000110721 28 10 26.32 43 0 0.00 CHKA 1119 genome.wustl.edu 37 11 67838320 67838320 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 67838320 67838320 C T SNP CHKA ENST00000265689 human ensembl 70_37 -1 known missense c.635 p.R212Q 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC ENSG00000110721 11 15 57.69 13 0 0.00 CHKB 1120 genome.wustl.edu 37 22 51019907 51019907 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 51019907 51019907 G C SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.523 p.H175D 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 21 12 36.36 51 0 0.00 CHKB 1120 genome.wustl.edu 37 22 51020270 51020270 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 51020270 51020270 C G SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.355 p.E119Q 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 127 29 18.59 164 0 0.00 CHKB 1120 genome.wustl.edu 37 22 51020713 51020713 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 51020713 51020713 C T SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.298 p.E100K 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 30 15 33.33 37 0 0.00 CHL1 10752 genome.wustl.edu 37 3 369910 369910 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 369910 369910 G A SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known silent c.258 p.S86 0.004 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC ENSG00000134121 35 12 25.53 64 0 0.00 CHL1 10752 genome.wustl.edu 37 3 369956 369956 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 369956 369956 C T SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.304 p.H102Y 0.970 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC ENSG00000134121 44 15 25.42 45 0 0.00 CHL1 10752 genome.wustl.edu 37 3 384667 384667 + Nonsense_Mutation SNP T T G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 384667 384667 T G SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known nonsense c.680 p.L227* 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC ENSG00000134121 51 47 47.96 95 0 0.00 CHL1 10752 genome.wustl.edu 37 3 425540 425540 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 425540 425540 C G SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.2218 p.Q740E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC ENSG00000134121 42 18 30.00 86 0 0.00 CHL1 10752 genome.wustl.edu 37 3 432680 432680 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 432680 432680 C T SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.2629 p.H877Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC ENSG00000134121 100 21 17.36 103 0 0.00 CHM 1121 genome.wustl.edu 37 X 85117273 85117273 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 85117273 85117273 C G SNP CHM ENST00000467744 human ensembl 70_37 -1 known rna NULL NULL 0.055 - - - no_errors CHM HGNC ENSG00000188419 17 23 57.50 34 0 0.00 CHM 1121 genome.wustl.edu 37 X 85128100 85128100 + Missense_Mutation SNP G G C TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 X 85128100 85128100 G C SNP CHM ENST00000357749 human ensembl 70_37 -1 known missense c.1727 p.S576C 1.000 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 28 12 30.00 56 0 0.00 CHM 1121 genome.wustl.edu 37 X 85211314 85211314 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 85211314 85211314 A G SNP CHM ENST00000357749 human ensembl 70_37 -1 known missense c.1010 p.V337A 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 5 4 44.44 71 0 0.00 CHM 1121 genome.wustl.edu 37 X 85218695 85218695 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 85218695 85218695 C A SNP CHM ENST00000357749 human ensembl 70_37 -1 known missense c.677 p.R226I 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 33 15 31.25 75 0 0.00 CHM 1121 genome.wustl.edu 37 X 85218961 85218961 + Silent SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a X 85218961 85218961 G T SNP CHM ENST00000357749 human ensembl 70_37 -1 known silent c.411 p.A137 0.000 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 15 3 16.67 41 0 0.00 CHML 1122 genome.wustl.edu 37 1 241798625 241798625 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 241798625 241798625 A G SNP CHML ENST00000366553 human ensembl 70_37 -1 known silent c.444 p.F148 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 13 7 35.00 25 0 0.00 CHMP1A 5119 genome.wustl.edu 37 16 89718046 89718046 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89718046 89718046 C G SNP CHMP1A ENST00000253475 human ensembl 70_37 -1 known missense c.16 p.E6Q 0.385 NULL NULL - no_errors CHMP1A HGNC ENSG00000131165 20 21 51.22 39 0 0.00 CHMP2B 25978 genome.wustl.edu 37 3 87302861 87302861 + Splice_Site SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 87302861 87302861 G C SNP CHMP2B ENST00000263780 human ensembl 70_37 +1 known splice_site c.532-1 e6-1 1.000 - - - no_errors CHMP2B HGNC ENSG00000083937 41 7 14.58 14 0 0.00 CHMP2B 25978 genome.wustl.edu 37 3 87302931 87302931 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 87302931 87302931 G A SNP CHMP2B ENST00000263780 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 NULL pfam_Snf7 - no_errors CHMP2B HGNC ENSG00000083937 39 10 20.41 19 0 0.00 CHMP5 51510 genome.wustl.edu 37 9 33266018 33266018 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 33266018 33266018 G C SNP CHMP5 ENST00000223500 human ensembl 70_37 +1 known missense c.80 p.R27T 0.998 pfam_Snf7 pfam_Snf7 - no_errors CHMP5 HGNC ENSG00000086065 21 6 22.22 25 0 0.00 CHMP6 79643 genome.wustl.edu 37 17 78970822 78970822 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 78970822 78970822 G C SNP CHMP6 ENST00000325167 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 42 26 38.24 83 0 0.00 CHMP6 79643 genome.wustl.edu 37 17 78972194 78972194 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78972194 78972194 C T SNP CHMP6 ENST00000325167 human ensembl 70_37 +1 known missense c.524 p.S175F 0.113 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 48 32 40.00 65 0 0.00 CHMP7 91782 genome.wustl.edu 37 8 23112868 23112868 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 23112868 23112868 G A SNP CHMP7 ENST00000313219 human ensembl 70_37 +1 known missense c.580 p.E194K 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 34 18 34.62 50 0 0.00 CHN1 1123 genome.wustl.edu 37 2 175673663 175673663 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 175673663 175673663 C T SNP CHN1 ENST00000409900 human ensembl 70_37 -1 known missense c.1072 p.D358N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 57 18 24.00 67 0 0.00 CHN1 1123 genome.wustl.edu 37 2 175689189 175689189 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 175689189 175689189 G T SNP CHN1 ENST00000409900 human ensembl 70_37 -1 known missense c.685 p.L229I 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_N-chimaerin,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 10 6 37.50 30 0 0.00 CHN2 1124 genome.wustl.edu 37 7 29438048 29438048 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 29438048 29438048 C T SNP CHN2 ENST00000539406 human ensembl 70_37 +1 known missense c.461 p.A154V 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 25 4 13.79 29 0 0.00 CHN2 1124 genome.wustl.edu 37 7 29438060 29438060 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 29438060 29438060 G C SNP CHN2 ENST00000539406 human ensembl 70_37 +1 known missense c.473 p.R158T 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 58 9 13.43 54 0 0.00 CHN2 1124 genome.wustl.edu 37 7 29552182 29552182 + Missense_Mutation SNP T T G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 7 29552182 29552182 T G SNP CHN2 ENST00000539406 human ensembl 70_37 +1 known missense c.1463 p.V488G 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 18 33 64.71 49 0 0.00 CHORDC1 26973 genome.wustl.edu 37 11 89944496 89944496 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89944496 89944496 T G SNP CHORDC1 ENST00000533772 human ensembl 70_37 -1 known missense c.337 p.N113H 0.998 NULL pfam_CHORD - no_errors CHORDC1 HGNC ENSG00000110172 11 3 21.43 26 0 0.00 CHP1 11261 genome.wustl.edu 37 15 41535869 41535869 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41535869 41535869 C T SNP CHP1 ENST00000334660 human ensembl 70_37 +1 known silent c.72 p.S24 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC ENSG00000187446 25 25 50.00 25 0 0.00 CHP1 11261 genome.wustl.edu 37 15 41535870 41535870 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41535870 41535870 C T SNP CHP1 ENST00000334660 human ensembl 70_37 +1 known missense c.73 p.H25Y 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC ENSG00000187446 25 26 50.98 25 0 0.00 CHPF 79586 genome.wustl.edu 37 2 220405172 220405172 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220405172 220405172 C T SNP CHPF ENST00000243776 human ensembl 70_37 -1 known missense c.1261 p.D421N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 16 5 23.81 17 0 0.00 CHPT1 56994 genome.wustl.edu 37 12 102120186 102120186 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 102120186 102120186 C T SNP CHPT1 ENST00000549128 human ensembl 70_37 +1 known missense c.1180 p.H394Y 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 50 12 19.35 39 0 0.00 CHRAC1 54108 genome.wustl.edu 37 8 141525317 141525317 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141525317 141525317 G C SNP CHRAC1 ENST00000220913 human ensembl 70_37 +1 known missense c.367 p.E123Q 0.003 NULL pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors CHRAC1 HGNC ENSG00000104472 16 10 38.46 31 0 0.00 CHRD 8646 genome.wustl.edu 37 3 184100681 184100681 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184100681 184100681 C T SNP CHRD ENST00000420973 human ensembl 70_37 +1 known missense c.991 p.P331S 1.000 pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_CHRD,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 55 11 16.67 29 0 0.00 CHRD 8646 genome.wustl.edu 37 3 184102886 184102886 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184102886 184102886 G A SNP CHRD ENST00000204604 human ensembl 70_37 +1 known missense c.1678 p.D560N 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 29 4 11.76 17 0 0.00 CHRD 8646 genome.wustl.edu 37 3 184104671 184104671 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 184104671 184104671 G A SNP CHRD ENST00000204604 human ensembl 70_37 +1 known silent c.2235 p.P745 0.000 pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 38 22 36.67 65 0 0.00 CHRD 8646 genome.wustl.edu 37 3 184107189 184107189 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184107189 184107189 G C SNP CHRD ENST00000204604 human ensembl 70_37 +1 known missense c.2847 p.E949D 1.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 59 11 15.71 43 0 0.00 CHRDL1 91851 genome.wustl.edu 37 X 109924798 109924798 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 109924798 109924798 G A SNP CHRDL1 ENST00000372042 human ensembl 70_37 -1 known silent c.1068 p.F356 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 29 9 23.68 96 0 0.00 CHRDL1 91851 genome.wustl.edu 37 X 110002983 110002983 + Splice_Site SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 110002983 110002983 C T SNP CHRDL1 ENST00000372042 human ensembl 70_37 -1 known splice_site c.208-1 e3-1 1.000 - - - no_errors CHRDL1 HGNC ENSG00000101938 24 13 35.14 24 0 0.00 CHRDL2 25884 genome.wustl.edu 37 11 74413902 74413902 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 74413902 74413902 G A SNP CHRDL2 ENST00000263671 human ensembl 70_37 -1 known missense c.1057 p.R353C 0.978 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 52 16 23.53 68 0 0.00 CHRFAM7A 89832 genome.wustl.edu 37 15 30654961 30654961 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 30654961 30654961 G A SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known silent c.774 p.P258 0.202 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 7 3 30.00 14 0 0.00 CHRFAM7A 89832 genome.wustl.edu 37 15 30665258 30665258 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 30665258 30665258 C T SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known missense c.251 p.G84E 0.991 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 54 7 11.48 46 0 0.00 CHRFAM7A 89832 genome.wustl.edu 37 15 30665323 30665323 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 30665323 30665323 G A SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known silent c.186 p.I62 0.864 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 51 9 15.00 44 0 0.00 CHRM1 1128 genome.wustl.edu 37 11 62678196 62678196 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62678196 62678196 G T SNP CHRM1 ENST00000306960 human ensembl 70_37 -1 known missense c.377 p.S126Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 19 8 29.63 30 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136556185 136556185 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 136556185 136556185 C T SNP CHRM2 ENST00000480591 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CHRM2 HGNC ENSG00000181072 32 8 20.00 31 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136700197 136700197 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 136700197 136700197 C G SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.585 p.F195L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 49 7 12.50 64 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136700256 136700256 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 136700256 136700256 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.644 p.S215N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 17 18 51.43 52 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136700266 136700266 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 136700266 136700266 G C SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.654 p.K218N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 33 40 54.79 57 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136700395 136700395 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 136700395 136700395 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known silent c.783 p.Q261 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 20 10 33.33 31 0 0.00 CHRM2 1129 genome.wustl.edu 37 7 136700956 136700956 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 136700956 136700956 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known silent c.1344 p.K448 1.000 prints_Musac_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 234 28 10.69 198 1 0.50 CHRM3 1131 genome.wustl.edu 37 1 240071000 240071000 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 240071000 240071000 C G SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.249 p.I83M 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 76 14 15.56 105 0 0.00 CHRM3 1131 genome.wustl.edu 37 1 240071327 240071327 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 240071327 240071327 T A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known silent c.576 p.A192 0.779 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 131 21 13.82 112 0 0.00 CHRM3 1131 genome.wustl.edu 37 1 240071991 240071991 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 240071991 240071991 G A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.1240 p.V414M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 35 8 18.60 42 0 0.00 CHRM3 1131 genome.wustl.edu 37 1 240072373 240072373 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 240072373 240072373 C A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.1622 p.P541H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 45 8 15.09 56 0 0.00 CHRM4 1132 genome.wustl.edu 37 11 46407230 46407230 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46407230 46407230 G C SNP CHRM4 ENST00000433765 human ensembl 70_37 -1 known missense c.878 p.S293C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn,prints_Musac_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 37 11 22.92 30 0 0.00 CHRM5 1133 genome.wustl.edu 37 15 34356038 34356038 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34356038 34356038 C T SNP CHRM5 ENST00000383263 human ensembl 70_37 +1 known nonsense c.1120 p.Q374* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 27 17 38.64 37 0 0.00 CHRM5 1133 genome.wustl.edu 37 15 34356124 34356124 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34356124 34356124 C T SNP CHRM5 ENST00000383263 human ensembl 70_37 +1 known silent c.1206 p.I402 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M5_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 22 19 46.34 34 0 0.00 CHRNA1 1134 genome.wustl.edu 37 2 175613442 175613442 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 175613442 175613442 C T SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known missense c.1183 p.D395N 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 76 20 20.83 57 0 0.00 CHRNA1 1134 genome.wustl.edu 37 2 175618995 175618995 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175618995 175618995 C G SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known missense c.567 p.M189I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 52 27 34.18 39 0 0.00 CHRNA1 1134 genome.wustl.edu 37 2 175624354 175624354 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175624354 175624354 G A SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known silent c.51 p.L17 0.175 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 27 10 27.03 28 0 0.00 CHRNA2 1135 genome.wustl.edu 37 8 27327357 27327357 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 27327357 27327357 C T SNP CHRNA2 ENST00000407991 human ensembl 70_37 -1 known missense c.215 p.R72H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 48 9 15.79 82 0 0.00 CHRNA3 1136 genome.wustl.edu 37 15 78894271 78894271 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 15 78894271 78894271 C T SNP CHRNA3 ENST00000326828 human ensembl 70_37 -1 known missense c.713 p.R238Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 47 10 17.54 39 0 0.00 CHRNA3 1136 genome.wustl.edu 37 15 78894297 78894297 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 78894297 78894297 G A SNP CHRNA3 ENST00000326828 human ensembl 70_37 -1 known silent c.687 p.P229 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 64 11 14.67 79 0 0.00 CHRNA5 1138 genome.wustl.edu 37 15 78882360 78882360 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 78882360 78882360 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.627 p.K209N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 143 20 12.27 159 0 0.00 CHRNA5 1138 genome.wustl.edu 37 15 78882360 78882360 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 78882360 78882360 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.627 p.K209N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 78 11 12.36 27 0 0.00 CHRNA5 1138 genome.wustl.edu 37 15 78882913 78882913 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 78882913 78882913 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.1180 p.E394Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 22 9 29.03 26 0 0.00 CHRNA5 1138 genome.wustl.edu 37 15 78882973 78882973 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 78882973 78882973 C A SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.1240 p.R414S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 32 4 11.11 47 0 0.00 CHRNA6 8973 genome.wustl.edu 37 8 42611231 42611231 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 42611231 42611231 G T SNP CHRNA6 ENST00000276410 human ensembl 70_37 -1 known missense c.1111 p.P371T 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 21 22 51.16 53 0 0.00 CHRNA6 8973 genome.wustl.edu 37 8 42611816 42611816 + Missense_Mutation SNP A A G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 42611816 42611816 A G SNP CHRNA6 ENST00000276410 human ensembl 70_37 -1 known missense c.526 p.F176L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 49 6 10.91 24 0 0.00 CHRNA7 1139 genome.wustl.edu 37 15 32460293 32460293 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 32460293 32460293 C T SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known silent c.1230 p.N410 0.569 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 72 14 16.28 94 0 0.00 CHRNA7 1139 genome.wustl.edu 37 15 32460411 32460411 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 32460411 32460411 C A SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known missense c.1348 p.L450M 0.617 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 25 11 30.56 44 0 0.00 CHRNA7 1139 genome.wustl.edu 37 15 32460419 32460419 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 32460419 32460419 C T SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known silent c.1356 p.G452 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 34 7 17.07 54 0 0.00 CHRNA9 55584 genome.wustl.edu 37 4 40351154 40351154 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 40351154 40351154 C T SNP CHRNA9 ENST00000310169 human ensembl 70_37 +1 known silent c.621 p.G207 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 63 9 12.50 71 0 0.00 CHRNA9 55584 genome.wustl.edu 37 4 40351427 40351427 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 40351427 40351427 G A SNP CHRNA9 ENST00000310169 human ensembl 70_37 +1 known silent c.894 p.L298 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 48 17 26.15 48 0 0.00 CHRNB1 1140 genome.wustl.edu 37 17 7357837 7357837 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 7357837 7357837 C T SNP CHRNB1 ENST00000306071 human ensembl 70_37 +1 known nonsense c.1042 p.Q348* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 18 3 14.29 41 0 0.00 CHRNB2 1141 genome.wustl.edu 37 1 154543731 154543731 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154543731 154543731 C T SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known silent c.432 p.F144 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 213 41 16.14 182 0 0.00 CHRNB2 1141 genome.wustl.edu 37 1 154544260 154544260 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 154544260 154544260 G A SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known missense c.961 p.V321M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 32 16 33.33 33 0 0.00 CHRNB2 1141 genome.wustl.edu 37 1 154548324 154548324 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 154548324 154548324 C T SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known silent c.1425 p.I475 0.375 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 121 42 25.77 131 0 0.00 CHRNB3 1142 genome.wustl.edu 37 8 42552739 42552739 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 42552739 42552739 C T SNP CHRNB3 ENST00000289957 human ensembl 70_37 +1 known missense c.50 p.S17L 0.997 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 18 16 47.06 36 0 0.00 CHRNB3 1142 genome.wustl.edu 37 8 42585773 42585773 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 42585773 42585773 G A SNP CHRNB3 ENST00000289957 human ensembl 70_37 +1 known missense c.286 p.D96N 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 22 17 43.59 28 0 0.00 CHRND 1144 genome.wustl.edu 37 2 233394711 233394711 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 233394711 233394711 C T SNP CHRND ENST00000441621 human ensembl 70_37 +1 known missense c.572 p.S191F 0.037 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRND HGNC ENSG00000135902 57 59 50.86 75 0 0.00 CHRNE 1145 genome.wustl.edu 37 17 4804874 4804874 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 4804874 4804874 C T SNP CHRNE ENST00000293780 human ensembl 70_37 -1 known missense c.547 p.D183N 0.104 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 9 35 77.78 77 0 0.00 CHRNE 1145 genome.wustl.edu 37 17 4805354 4805354 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 4805354 4805354 C T SNP CHRNE ENST00000293780 human ensembl 70_37 -1 known missense c.373 p.D125N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 22 17 43.59 49 0 0.00 CHRNE 1145 genome.wustl.edu 37 17 4805969 4805969 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4805969 4805969 C G SNP CHRNE ENST00000293780 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 181 51 21.98 238 0 0.00 CHRNG 1146 genome.wustl.edu 37 2 233406222 233406222 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 233406222 233406222 C A SNP CHRNG ENST00000389494 human ensembl 70_37 +1 known missense c.489 p.N163K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 61 16 20.78 149 0 0.00 CHRNG 1146 genome.wustl.edu 37 2 233407755 233407755 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 233407755 233407755 C T SNP CHRNG ENST00000389494 human ensembl 70_37 +1 known silent c.768 p.S256 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 55 27 32.93 86 0 0.00 CHST1 8534 genome.wustl.edu 37 11 45671568 45671568 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 45671568 45671568 G A SNP CHST1 ENST00000308064 human ensembl 70_37 -1 known silent c.906 p.Y302 0.998 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 76 13 14.61 127 1 0.78 CHST1 8534 genome.wustl.edu 37 11 45671730 45671730 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 45671730 45671730 G A SNP CHST1 ENST00000308064 human ensembl 70_37 -1 known silent c.744 p.R248 0.392 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 24 18 42.86 65 0 0.00 CHST10 9486 genome.wustl.edu 37 2 101009777 101009777 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 101009777 101009777 C T SNP CHST10 ENST00000542617 human ensembl 70_37 -1 known missense c.1145 p.R382H 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST10 HGNC ENSG00000115526 42 5 10.64 42 0 0.00 CHST10 9486 genome.wustl.edu 37 2 101010046 101010046 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 101010046 101010046 G A SNP CHST10 ENST00000542617 human ensembl 70_37 -1 known silent c.876 p.L292 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST10 HGNC ENSG00000115526 18 6 25.00 20 0 0.00 CHST11 50515 genome.wustl.edu 37 12 105151050 105151050 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 105151050 105151050 G C SNP CHST11 ENST00000303694 human ensembl 70_37 +1 known missense c.528 p.L176F 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 45 6 11.76 60 0 0.00 CHST11 50515 genome.wustl.edu 37 12 105151391 105151391 + Missense_Mutation SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 105151391 105151391 T C SNP CHST11 ENST00000303694 human ensembl 70_37 +1 known missense c.869 p.L290P 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 34 4 10.53 37 0 0.00 CHST12 55501 genome.wustl.edu 37 7 2472514 2472514 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 2472514 2472514 G C SNP CHST12 ENST00000258711 human ensembl 70_37 +1 known missense c.240 p.Q80H 0.000 NULL pfam_Sulfotransferase - no_errors CHST12 HGNC ENSG00000136213 20 17 45.95 68 0 0.00 CHST12 55501 genome.wustl.edu 37 7 2473301 2473301 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 2473301 2473301 G A SNP CHST12 ENST00000258711 human ensembl 70_37 +1 known missense c.1027 p.E343K 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST12 HGNC ENSG00000136213 30 14 31.82 56 0 0.00 CHST13 166012 genome.wustl.edu 37 3 126261024 126261024 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 126261024 126261024 C T SNP CHST13 ENST00000319340 human ensembl 70_37 +1 known missense c.629 p.P210L 0.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 79 27 25.47 29 0 0.00 CHST14 113189 genome.wustl.edu 37 15 40764143 40764143 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 40764143 40764143 G A SNP CHST14 ENST00000306243 human ensembl 70_37 +1 known missense c.731 p.R244Q 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 45 25 35.71 42 0 0.00 CHST14 113189 genome.wustl.edu 37 15 40764159 40764159 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 40764159 40764159 G A SNP CHST14 ENST00000306243 human ensembl 70_37 +1 known silent c.747 p.A249 0.002 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 165 45 21.33 259 0 0.00 CHST15 51363 genome.wustl.edu 37 10 125804145 125804145 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 125804145 125804145 G A SNP CHST15 ENST00000346248 human ensembl 70_37 -1 known silent c.837 p.V279 0.962 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 28 13 31.71 40 0 0.00 CHST15 51363 genome.wustl.edu 37 10 125804148 125804148 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 125804148 125804148 C A SNP CHST15 ENST00000346248 human ensembl 70_37 -1 known missense c.834 p.E278D 0.580 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 36 4 10.00 25 0 0.00 CHST3 9469 genome.wustl.edu 37 10 73767018 73767018 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 73767018 73767018 C T SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known missense c.229 p.L77F 1.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 46 13 22.03 35 0 0.00 CHST3 9469 genome.wustl.edu 37 10 73767071 73767071 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 73767071 73767071 C G SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known silent c.282 p.L94 0.877 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 27 20 42.55 71 0 0.00 CHST3 9469 genome.wustl.edu 37 10 73768164 73768164 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 73768164 73768164 G T SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known missense c.1375 p.A459S 0.031 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 15 4 21.05 16 0 0.00 CHST4 10164 genome.wustl.edu 37 16 71570649 71570649 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 71570649 71570649 C G SNP CHST4 ENST00000338482 human ensembl 70_37 +1 known missense c.69 p.F23L 0.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 105 27 20.45 167 0 0.00 CHST4 10164 genome.wustl.edu 37 16 71571446 71571446 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 71571446 71571446 G A SNP CHST4 ENST00000338482 human ensembl 70_37 +1 known missense c.866 p.R289Q 0.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 19 14 41.18 26 0 0.00 CHST4 10164 genome.wustl.edu 37 16 71571633 71571633 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 16 71571633 71571633 C T SNP CHST4 ENST00000338482 human ensembl 70_37 +1 known silent c.1053 p.G351 0.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 19 30 61.22 48 0 0.00 CHST5 23563 genome.wustl.edu 37 16 75563052 75563052 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 75563052 75563052 C T SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.1249 p.D417N 0.000 NULL pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 5 8 61.54 38 0 0.00 CHST5 23563 genome.wustl.edu 37 16 75563112 75563112 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 75563112 75563112 C T SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.1189 p.D397N 0.922 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 44 7 13.73 56 0 0.00 CHST5 23563 genome.wustl.edu 37 16 75563856 75563856 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 16 75563856 75563856 A G SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.445 p.F149L 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 38 38 50.00 56 0 0.00 CHST5 23563 genome.wustl.edu 37 16 75564065 75564065 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 75564065 75564065 G A SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.236 p.S79L 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 32 20 37.74 52 0 0.00 CHST7 56548 genome.wustl.edu 37 X 46433633 46433633 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 46433633 46433633 C T SNP CHST7 ENST00000276055 human ensembl 70_37 +1 known silent c.267 p.L89 0.282 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 52 21 28.77 52 0 0.00 CHST8 64377 genome.wustl.edu 37 19 34263476 34263476 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 34263476 34263476 C T SNP CHST8 ENST00000262622 human ensembl 70_37 +1 known silent c.783 p.F261 0.997 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 68 21 23.60 86 0 0.00 CHST8 64377 genome.wustl.edu 37 19 34263497 34263497 + Silent SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 34263497 34263497 C T SNP CHST8 ENST00000262622 human ensembl 70_37 +1 known silent c.804 p.F268 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 69 24 25.53 122 0 0.00 CHSY1 22856 genome.wustl.edu 37 15 101719133 101719133 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 15 101719133 101719133 C G SNP CHSY1 ENST00000254190 human ensembl 70_37 -1 known missense c.869 p.R290T 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 76 34 30.91 111 0 0.00 CHSY3 337876 genome.wustl.edu 37 5 129241194 129241194 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 129241194 129241194 C T SNP CHSY3 ENST00000305031 human ensembl 70_37 +1 known silent c.672 p.I224 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 12 9 42.86 22 0 0.00 CHTF18 63922 genome.wustl.edu 37 16 839552 839552 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 839552 839552 C T SNP CHTF18 ENST00000317063 human ensembl 70_37 +1 known missense c.1034 p.S345L 0.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 44 22 33.33 64 0 0.00 CHTF8 54921 genome.wustl.edu 37 16 69153668 69153668 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 69153668 69153668 G C SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known missense c.664 p.P222A 0.985 NULL NULL - no_errors CHTF8 HGNC ENSG00000168802 23 22 48.89 23 0 0.00 CHTF8 54921 genome.wustl.edu 37 16 69154218 69154218 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 69154218 69154218 C T SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known silent c.114 p.L38 0.793 NULL NULL - no_errors CHTF8 HGNC ENSG00000168802 55 26 31.71 73 0 0.00 CHTF8 54921 genome.wustl.edu 37 16 69154319 69154319 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 69154319 69154319 G A SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known missense c.13 p.R5W 0.998 NULL NULL - no_errors CHTF8 HGNC ENSG00000168802 56 22 28.21 66 0 0.00 CHUK 1147 genome.wustl.edu 37 10 101953149 101953149 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 101953149 101953149 C G SNP CHUK ENST00000370397 human ensembl 70_37 -1 known missense c.2014 p.E672Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 21 10 32.26 43 0 0.00 CHUK 1147 genome.wustl.edu 37 10 101953849 101953849 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 101953849 101953849 G A SNP CHUK ENST00000370397 human ensembl 70_37 -1 known silent c.1866 p.L622 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 39 16 29.09 31 0 0.00 CHUK 1147 genome.wustl.edu 37 10 101964375 101964375 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 101964375 101964375 C G SNP CHUK ENST00000370397 human ensembl 70_37 -1 known missense c.1395 p.M465I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 86 11 11.34 92 0 0.00 CHURC1-FNTB 100529261 genome.wustl.edu 37 14 65494288 65494288 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 65494288 65494288 C A SNP CHURC1-FNTB ENST00000447296 human ensembl 70_37 +1 known silent c.594 p.G198 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors CHURC1-FNTB HGNC ENSG00000125954 44 5 10.20 28 0 0.00 CIAPIN1 57019 genome.wustl.edu 37 16 57468100 57468100 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57468100 57468100 C T SNP CIAPIN1 ENST00000394391 human ensembl 70_37 -1 known missense c.412 p.E138K 0.985 NULL pfam_CIAPIN1 - no_errors CIAPIN1 HGNC ENSG00000005194 163 43 20.87 207 0 0.00 CIB1 10519 genome.wustl.edu 37 15 90777075 90777075 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 90777075 90777075 C T SNP CIB1 ENST00000328649 human ensembl 70_37 -1 known missense c.43 p.E15K 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB1 HGNC ENSG00000185043 12 10 45.45 26 0 0.00 CIB2 10518 genome.wustl.edu 37 15 78398016 78398016 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 78398016 78398016 C G SNP CIB2 ENST00000560618 human ensembl 70_37 -1 putative missense c.478 p.E160Q 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB2 HGNC ENSG00000136425 11 18 62.07 26 0 0.00 CIB2 10518 genome.wustl.edu 37 15 78398263 78398263 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 15 78398263 78398263 G T SNP CIB2 ENST00000258930 human ensembl 70_37 -1 known missense c.360 p.D120E 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB2 HGNC ENSG00000136425 56 31 35.63 61 0 0.00 CIB3 117286 genome.wustl.edu 37 19 16275611 16275611 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 16275611 16275611 C G SNP CIB3 ENST00000269878 human ensembl 70_37 -1 known missense c.460 p.D154H 0.997 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors CIB3 HGNC ENSG00000141977 85 23 21.30 128 0 0.00 CIB4 130106 genome.wustl.edu 37 2 26804232 26804232 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 26804232 26804232 C T SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known silent c.557 p.*186 0.684 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC ENSG00000157884 20 7 25.93 25 0 0.00 CIB4 130106 genome.wustl.edu 37 2 26863416 26863416 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 26863416 26863416 C A SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known missense c.74 p.R25I 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC ENSG00000157884 26 11 29.73 45 0 0.00 CIB4 130106 genome.wustl.edu 37 2 26863418 26863418 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26863418 26863418 G A SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known silent c.72 p.T24 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC ENSG00000157884 37 20 35.09 68 0 0.00 CIC 23152 genome.wustl.edu 37 19 42791223 42791223 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42791223 42791223 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.283 p.E95Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 59 15 20.27 56 0 0.00 CIC 23152 genome.wustl.edu 37 19 42791514 42791514 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42791514 42791514 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known silent c.495 p.P165 0.991 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 33 20 37.04 73 0 0.00 CIC 23152 genome.wustl.edu 37 19 42793213 42793213 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 42793213 42793213 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.1105 p.D369H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 79 17 17.71 123 0 0.00 CIC 23152 genome.wustl.edu 37 19 42794092 42794092 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 42794092 42794092 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.1453 p.E485Q 0.995 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 17 8 32.00 16 0 0.00 CIC 23152 genome.wustl.edu 37 19 42795012 42795012 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42795012 42795012 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.2092 p.E698K 0.471 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 50 32 39.02 76 0 0.00 CIC 23152 genome.wustl.edu 37 19 42795860 42795860 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 42795860 42795860 C T SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.2849 p.S950L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 18 8 30.77 35 0 0.00 CIC 23152 genome.wustl.edu 37 19 42796784 42796784 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42796784 42796784 C T SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3242 p.P1081L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 40 15 27.27 51 0 0.00 CIC 23152 genome.wustl.edu 37 19 42796810 42796810 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 42796810 42796810 C A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3268 p.P1090T 0.997 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 60 27 31.03 105 0 0.00 CIC 23152 genome.wustl.edu 37 19 42797347 42797347 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42797347 42797347 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3709 p.E1237K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 7 6 46.15 10 0 0.00 CIDEB 27141 genome.wustl.edu 37 14 24775181 24775181 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 24775181 24775181 G A SNP CIDEB ENST00000258807 human ensembl 70_37 -1 known nonsense c.499 p.Q167* 0.977 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEB HGNC ENSG00000136305 50 20 28.57 99 0 0.00 CIDEB 27141 genome.wustl.edu 37 14 24775198 24775198 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 24775198 24775198 G C SNP CIDEB ENST00000258807 human ensembl 70_37 -1 known missense c.482 p.S161C 1.000 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEB HGNC ENSG00000136305 40 30 42.86 81 0 0.00 CIDEC 63924 genome.wustl.edu 37 3 9911955 9911955 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 9911955 9911955 C T SNP CIDEC ENST00000336832 human ensembl 70_37 -1 known missense c.259 p.E87K 1.000 pfam_CAD,smart_CAD,pfscan_CAD pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEC HGNC ENSG00000187288 29 10 25.64 39 0 0.00 CIITA 4261 genome.wustl.edu 37 16 11001770 11001770 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 11001770 11001770 G T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2421 p.L807 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 53 6 10.17 65 0 0.00 CIITA 4261 genome.wustl.edu 37 16 11002911 11002911 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 11002911 11002911 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2683 p.L895 0.964 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 26 10 27.78 44 0 0.00 CIITA 4261 genome.wustl.edu 37 16 11002973 11002973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 11002973 11002973 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2745 p.F915 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 24 3 11.11 32 0 0.00 CIITA 4261 genome.wustl.edu 37 16 11009489 11009489 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 11009489 11009489 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known missense c.2951 p.S984F 0.967 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 38 13 25.49 59 0 0.00 CIITA 4261 genome.wustl.edu 37 16 11010239 11010239 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 11010239 11010239 T C SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2985 p.S995 0.841 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 47 10 17.54 58 0 0.00 CILP 8483 genome.wustl.edu 37 15 65490682 65490682 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65490682 65490682 C G SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.1942 p.E648Q 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 65 43 39.45 76 0 0.00 CILP 8483 genome.wustl.edu 37 15 65495702 65495702 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65495702 65495702 A C SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.1026 p.F342L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 17 8 32.00 26 0 0.00 CILP 8483 genome.wustl.edu 37 15 65495766 65495766 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 65495766 65495766 C T SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.962 p.R321K 0.991 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 33 13 28.26 25 0 0.00 CILP2 148113 genome.wustl.edu 37 19 19649220 19649220 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 19649220 19649220 G A SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.62 p.R21Q 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC ENSG00000160161 13 6 31.58 19 0 0.00 CILP2 148113 genome.wustl.edu 37 19 19653318 19653318 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 19653318 19653318 C G SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.727 p.H243D 0.052 superfamily_CarboxyPept-like_regulatory pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC ENSG00000160161 41 18 30.51 50 0 0.00 CILP2 148113 genome.wustl.edu 37 19 19654947 19654947 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 19654947 19654947 C T SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known silent c.1593 p.F531 0.988 superfamily_Carb-bd-like_fold pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC ENSG00000160161 83 31 27.19 83 0 0.00 CILP2 148113 genome.wustl.edu 37 19 19656052 19656052 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 19656052 19656052 G A SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.2698 p.A900T 0.932 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC ENSG00000160161 74 12 13.79 71 0 0.00 CIR1 9541 genome.wustl.edu 37 2 175213653 175213653 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 175213653 175213653 C T SNP CIR1 ENST00000342016 human ensembl 70_37 -1 known missense c.925 p.E309K 0.997 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 35 6 14.63 36 0 0.00 CIRBP 1153 genome.wustl.edu 37 19 1271012 1271012 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 1271012 1271012 C T SNP CIRBP ENST00000444172 human ensembl 70_37 +1 known nonsense c.28 p.Q10* 1.000 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 13 25 65.79 47 0 0.00 CIRBP 1153 genome.wustl.edu 37 19 1271030 1271030 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 1271030 1271030 C T SNP CIRBP ENST00000585914 human ensembl 70_37 +1 known missense c.98 p.S33F 0.899 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors CIRBP HGNC ENSG00000099622 29 13 30.95 37 0 0.00 CIRBP 1153 genome.wustl.edu 37 19 1272191 1272191 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 1272191 1272191 C G SNP CIRBP ENST00000444172 human ensembl 70_37 +1 known missense c.484 p.Q162E 0.007 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 17 7 29.17 21 0 0.00 CIRBP-AS1 148046 genome.wustl.edu 37 19 1270036 1270036 + RNA SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1270036 1270036 G C SNP CIRBP-AS1 ENST00000585832 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 34 11 24.44 50 0 0.00 CIRBP-AS1 148046 genome.wustl.edu 37 19 1270131 1270131 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 1270131 1270131 C T SNP CIRBP-AS1 ENST00000585832 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 24 5 17.24 41 0 0.00 CIRH1A 84916 genome.wustl.edu 37 16 69184470 69184470 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 16 69184470 69184470 G A SNP CIRH1A ENST00000314423 human ensembl 70_37 +1 known missense c.769 p.E257K 1.000 superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 32 16 33.33 54 0 0.00 CIRH1A 84916 genome.wustl.edu 37 16 69199375 69199375 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69199375 69199375 G A SNP CIRH1A ENST00000314423 human ensembl 70_37 +1 known silent c.1779 p.P593 0.883 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 34 13 27.66 39 0 0.00 CISD3 284106 genome.wustl.edu 37 17 36886894 36886894 + RNA SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 36886894 36886894 C G SNP CISD3 ENST00000578573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CISD3 HGNC ENSG00000230055 15 7 31.82 15 0 0.00 CISD3 284106 genome.wustl.edu 37 17 36890307 36890307 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36890307 36890307 C G SNP CISD3 ENST00000578573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CISD3 HGNC ENSG00000230055 4 8 66.67 8 0 0.00 CISD3 284106 genome.wustl.edu 37 17 36890988 36890988 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 36890988 36890988 G C SNP CISD3 ENST00000578573 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CISD3 HGNC ENSG00000230055 29 4 12.12 33 0 0.00 CIT 11113 genome.wustl.edu 37 12 120142196 120142196 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 120142196 120142196 T G SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.5150 p.E1717A 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 40 24 37.50 79 0 0.00 CIT 11113 genome.wustl.edu 37 12 120159185 120159185 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 120159185 120159185 C T SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.3535 p.E1179K 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 40 14 25.93 56 0 0.00 CIT 11113 genome.wustl.edu 37 12 120260769 120260769 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120260769 120260769 C G SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.966 p.L322F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 60 16 21.05 49 0 0.00 CIT 11113 genome.wustl.edu 37 12 120263013 120263013 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 120263013 120263013 C T SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.913 p.E305K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 26 13 33.33 32 0 0.00 CITED1 4435 genome.wustl.edu 37 X 71521706 71521706 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 71521706 71521706 G A SNP CITED1 ENST00000431381 human ensembl 70_37 -1 known missense c.527 p.S176L 0.713 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 82 12 12.77 81 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130928414 130928414 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 130928414 130928414 G T SNP CIZ1 ENST00000461765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC ENSG00000148337 45 11 19.64 40 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130928435 130928435 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130928435 130928435 G C SNP CIZ1 ENST00000461765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC ENSG00000148337 55 33 37.50 68 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130929266 130929266 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130929266 130929266 G A SNP CIZ1 ENST00000485001 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CIZ1 HGNC ENSG00000148337 24 15 38.46 53 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130931159 130931159 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130931159 130931159 C T SNP CIZ1 ENST00000476541 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC ENSG00000148337 17 20 54.05 44 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130931345 130931345 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130931345 130931345 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.2359 p.E787K 0.985 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 44 46 51.11 58 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130931351 130931351 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130931351 130931351 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.2353 p.E785K 0.413 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 45 48 51.61 62 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130932385 130932385 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 130932385 130932385 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.1945 p.E649K 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 43 13 23.21 41 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130940030 130940030 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 130940030 130940030 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.1633 p.G545R 0.996 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 57 31 34.44 95 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130947884 130947884 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130947884 130947884 G A SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.530 p.S177L 0.740 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 129 44 25.43 218 0 0.00 CIZ1 25792 genome.wustl.edu 37 9 130950164 130950164 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 130950164 130950164 G C SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known silent c.336 p.L112 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 12 2 14.29 15 0 0.00 CKAP2 26586 genome.wustl.edu 37 13 53030687 53030687 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 53030687 53030687 C G SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.100 p.L34V 0.723 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 37 6 13.95 48 0 0.00 CKAP2 26586 genome.wustl.edu 37 13 53035894 53035894 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 53035894 53035894 G C SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.936 p.K312N 0.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 43 25 36.76 44 0 0.00 CKAP2 26586 genome.wustl.edu 37 13 53036502 53036502 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 13 53036502 53036502 C T SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.1108 p.R370C 1.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 34 18 34.62 39 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113496492 113496492 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 113496492 113496492 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.2146 p.E716K 0.741 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 123 79 39.11 209 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113498516 113498516 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113498516 113498516 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.063 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 23 24 51.06 53 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113498523 113498523 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113498523 113498523 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known silent c.1884 p.K628 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 23 25 52.08 48 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113514048 113514048 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113514048 113514048 G C SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.900 p.I300M 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 35 12 25.53 50 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113514124 113514124 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113514124 113514124 G A SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.824 p.S275L 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 23 12 34.29 30 0 0.00 CKAP2L 150468 genome.wustl.edu 37 2 113522197 113522197 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 113522197 113522197 C G SNP CKAP2L ENST00000461876 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors CKAP2L HGNC ENSG00000169607 101 54 34.62 163 0 0.00 CKAP4 10970 genome.wustl.edu 37 12 106633120 106633120 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 106633120 106633120 G T SNP CKAP4 ENST00000378026 human ensembl 70_37 -1 known silent c.1491 p.P497 0.825 superfamily_STAT_TF_coiled-coil superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 21 11 34.38 27 0 0.00 CKAP4 10970 genome.wustl.edu 37 12 106633787 106633787 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 106633787 106633787 G A SNP CKAP4 ENST00000378026 human ensembl 70_37 -1 known missense c.824 p.S275F 0.303 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 35 23 39.66 80 0 0.00 CKAP4 10970 genome.wustl.edu 37 12 106633846 106633846 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 106633846 106633846 G A SNP CKAP4 ENST00000378026 human ensembl 70_37 -1 known silent c.765 p.F255 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 47 6 11.32 27 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46771944 46771944 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 46771944 46771944 C T SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.5605 p.D1869N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 77 10 11.49 77 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46771957 46771957 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46771957 46771957 C G SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.5592 p.K1864N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 41 27 39.71 56 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46780913 46780913 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46780913 46780913 C G SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.4474 p.E1492Q 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 144 55 27.64 184 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46784554 46784554 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46784554 46784554 G C SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.3863 p.S1288C 0.882 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 67 47 41.23 154 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46784576 46784576 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46784576 46784576 G A SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.3841 p.H1281Y 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 91 62 40.52 165 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46806154 46806154 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46806154 46806154 G A SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known nonsense c.2038 p.Q680* 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 65 21 24.42 67 0 0.00 CKAP5 9793 genome.wustl.edu 37 11 46831302 46831302 + Missense_Mutation SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 46831302 46831302 A T SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.753 p.D251E 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 94 15 13.76 98 0 0.00 CKB 1152 genome.wustl.edu 37 14 103986313 103986313 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 103986313 103986313 G C SNP CKB ENST00000348956 human ensembl 70_37 -1 known nonsense c.1034 p.S345* 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 67 12 15.19 56 0 0.00 CKB 1152 genome.wustl.edu 37 14 103988711 103988711 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 103988711 103988711 C T SNP CKB ENST00000348956 human ensembl 70_37 -1 known silent c.120 p.A40 0.080 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 42 17 28.81 56 0 0.00 CKM 1158 genome.wustl.edu 37 19 45822923 45822923 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 45822923 45822923 C G SNP CKM ENST00000221476 human ensembl 70_37 -1 known missense c.49 p.E17Q 0.993 superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 120 30 20.00 142 0 0.00 CKMT2 1160 genome.wustl.edu 37 5 80554979 80554979 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 80554979 80554979 G A SNP CKMT2 ENST00000254035 human ensembl 70_37 +1 known nonsense c.920 p.W307* 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 171 33 16.18 234 0 0.00 CKMT2 1160 genome.wustl.edu 37 5 80559431 80559431 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 80559431 80559431 C T SNP CKMT2 ENST00000254035 human ensembl 70_37 +1 known missense c.1136 p.S379L 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 60 15 20.00 63 0 0.00 CKS1B 1163 genome.wustl.edu 37 1 154951278 154951278 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154951278 154951278 C G SNP CKS1B ENST00000471245 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors CKS1B HGNC ENSG00000173207 58 45 43.69 78 0 0.00 CKS1B 1163 genome.wustl.edu 37 1 154951643 154951643 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154951643 154951643 C T SNP CKS1B ENST00000474215 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CKS1B HGNC ENSG00000173207 73 52 41.60 140 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122139867 122139867 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 122139867 122139867 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known silent c.3408 p.A1136 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 42 6 12.50 41 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122139867 122139867 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 122139867 122139867 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known silent c.3408 p.A1136 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 24 8 25.00 32 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122159170 122159170 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 122159170 122159170 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2815 p.L939F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 49 24 32.88 79 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122159197 122159197 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 122159197 122159197 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2788 p.D930N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 156 70 30.97 180 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122176241 122176241 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 122176241 122176241 C G SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2277 p.E759D 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 165 37 18.32 207 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122182816 122182816 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 122182816 122182816 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2111 p.S704F 0.759 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 49 35 41.67 70 0 0.00 CLASP1 23332 genome.wustl.edu 37 2 122363302 122363302 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 122363302 122363302 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.170 p.S57F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 42 30 41.67 59 0 0.00 CLASP2 23122 genome.wustl.edu 37 3 33580331 33580331 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 33580331 33580331 C G SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.3529 p.D1177H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 26 5 16.13 28 0 0.00 CLASP2 23122 genome.wustl.edu 37 3 33614827 33614827 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 33614827 33614827 C G SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.2498 p.R833T 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 35 11 23.91 51 0 0.00 CLASP2 23122 genome.wustl.edu 37 3 33638217 33638217 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 33638217 33638217 G C SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.1934 p.S645C 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 33 4 10.81 50 0 0.00 CLASRP 11129 genome.wustl.edu 37 19 45567797 45567797 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 45567797 45567797 C T SNP CLASRP ENST00000221455 human ensembl 70_37 +1 known missense c.1318 p.R440W 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 5 8 61.54 10 0 0.00 CLASRP 11129 genome.wustl.edu 37 19 45570740 45570745 + In_Frame_Del DEL AGCCAG AGCCAG - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 AGCCAG AGCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 45570740 45570745 AGCCAG - DEL CLASRP ENST00000221455 human ensembl 70_37 +1 known in_frame_del c.1555_1560 p.QS520in_frame_del 0.016:0.023:0.005:0.002:0.000:0.001 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 10 2 16.67 15 0 0.00 CLASRP 11129 genome.wustl.edu 37 19 45571722 45571722 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 45571722 45571722 G C SNP CLASRP ENST00000221455 human ensembl 70_37 +1 known missense c.1752 p.K584N 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 99 16 13.91 152 0 0.00 CLC 1178 genome.wustl.edu 37 19 40224976 40224976 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 40224976 40224976 G A SNP CLC ENST00000221804 human ensembl 70_37 -1 known nonsense c.250 p.Q84* 0.013 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors CLC HGNC ENSG00000105205 21 9 30.00 29 0 0.00 CLCA2 9635 genome.wustl.edu 37 1 86904663 86904663 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 86904663 86904663 G A SNP CLCA2 ENST00000370565 human ensembl 70_37 +1 known silent c.1077 p.E359 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 44 14 24.14 49 0 0.00 CLCA2 9635 genome.wustl.edu 37 1 86921139 86921139 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 1 86921139 86921139 G T SNP CLCA2 ENST00000370565 human ensembl 70_37 +1 known missense c.2761 p.V921F 0.068 NULL pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 21 3 12.50 29 0 0.00 CLCA4 22802 genome.wustl.edu 37 1 87036839 87036839 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 87036839 87036839 C A SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known missense c.1262 p.S421Y 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 19 6 24.00 39 0 0.00 CLCA4 22802 genome.wustl.edu 37 1 87038329 87038329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 87038329 87038329 C T SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 48 19 28.36 103 0 0.00 CLCA4 22802 genome.wustl.edu 37 1 87038329 87038329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 87038329 87038329 C T SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 48 19 28.36 40 0 0.00 CLCA4 22802 genome.wustl.edu 37 1 87043590 87043590 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 87043590 87043590 G C SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known missense c.1957 p.D653H 1.000 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 51 12 19.05 81 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109472616 109472616 + RNA SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 109472616 109472616 A G SNP CLCC1 ENST00000473062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLCC1 HGNC ENSG00000121940 43 12 21.82 65 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109472737 109472737 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 109472737 109472737 G A SNP CLCC1 ENST00000473062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLCC1 HGNC ENSG00000121940 72 24 24.74 114 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109477372 109477372 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109477372 109477372 C G SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.1576 p.D526H 0.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 54 15 21.74 64 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109477521 109477521 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109477521 109477521 C T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.1427 p.G476E 0.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 24 22 47.83 26 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109479990 109479990 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 109479990 109479990 G A SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known silent c.1092 p.G364 0.032 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 19 8 28.57 11 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109482749 109482749 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 109482749 109482749 G T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known nonsense c.812 p.S271* 0.964 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 24 9 27.27 30 0 0.00 CLCC1 23155 genome.wustl.edu 37 1 109492486 109492486 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 109492486 109492486 C T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.187 p.E63K 0.880 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 48 10 17.24 46 0 0.00 CLCF1 23529 genome.wustl.edu 37 11 67134998 67134998 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67134998 67134998 G C SNP CLCF1 ENST00000312438 human ensembl 70_37 -1 known missense c.116 p.S39C 1.000 superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC ENSG00000175505 28 21 42.86 78 0 0.00 CLCN1 1180 genome.wustl.edu 37 7 143017825 143017825 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 143017825 143017825 C T SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known silent c.370 p.L124 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 55 30 35.29 96 0 0.00 CLCN1 1180 genome.wustl.edu 37 7 143018499 143018499 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 143018499 143018499 C A SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known missense c.475 p.L159M 0.979 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 94 20 17.54 93 0 0.00 CLCN1 1180 genome.wustl.edu 37 7 143029958 143029958 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 143029958 143029958 G A SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known missense c.1393 p.V465I 0.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 25 5 16.67 25 0 0.00 CLCN1 1180 genome.wustl.edu 37 7 143039071 143039071 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143039071 143039071 G T SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known silent c.1632 p.V544 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 35 21 37.50 26 0 0.00 CLCN1 1180 genome.wustl.edu 37 7 143039071 143039071 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143039071 143039071 G T SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known silent c.1632 p.V544 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 61 29 32.22 110 0 0.00 CLCN2 1181 genome.wustl.edu 37 3 184071119 184071119 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184071119 184071119 C T SNP CLCN2 ENST00000265593 human ensembl 70_37 -1 known missense c.1947 p.M649I 0.990 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 97 22 18.49 143 0 0.00 CLCN2 1181 genome.wustl.edu 37 3 184071526 184071526 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184071526 184071526 G C SNP CLCN2 ENST00000265593 human ensembl 70_37 -1 known silent c.1779 p.L593 0.976 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 90 31 25.62 43 0 0.00 CLCN4 1183 genome.wustl.edu 37 X 10174519 10174519 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 10174519 10174519 C A SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known missense c.677 p.P226Q 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 29 10 25.64 34 0 0.00 CLCN4 1183 genome.wustl.edu 37 X 10174520 10174520 + Silent SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 10174520 10174520 G C SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known silent c.678 p.P226 0.061 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 31 10 24.39 33 0 0.00 CLCN4 1183 genome.wustl.edu 37 X 10181774 10181774 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 10181774 10181774 G A SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known missense c.1630 p.G544R 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 85 19 18.27 59 0 0.00 CLCN5 1184 genome.wustl.edu 37 X 49855078 49855078 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 49855078 49855078 G A SNP CLCN5 ENST00000376088 human ensembl 70_37 +1 known missense c.2050 p.E684K 0.993 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 76 19 20.00 86 0 0.00 CLCN5 1184 genome.wustl.edu 37 X 49855455 49855455 + Frame_Shift_Del DEL T T - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 49855455 49855455 T - DEL CLCN5 ENST00000376088 human ensembl 70_37 +1 known frame_shift_del c.2272 p.F758fs 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 27 14 34.15 36 0 0.00 CLCN5 1184 genome.wustl.edu 37 X 49855456 49855456 + Missense_Mutation SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 49855456 49855456 T C SNP CLCN5 ENST00000376088 human ensembl 70_37 +1 known missense c.2273 p.F758S 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 26 15 36.59 37 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11866380 11866380 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 11866380 11866380 C A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.61 p.R21S 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 41 5 10.87 39 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11867239 11867239 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11867239 11867239 G T SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.139 p.D47Y 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 21 11 34.38 28 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11886216 11886216 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11886216 11886216 C G SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.652 p.Q218E 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-6 pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 31 15 32.61 53 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11894623 11894623 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 11894623 11894623 G A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known nonsense c.1769 p.W590* 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 11 6 35.29 15 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11897157 11897157 + Silent SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 11897157 11897157 C T SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known silent c.2082 p.I694 0.002 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 16 5 23.81 27 0 0.00 CLCN6 1185 genome.wustl.edu 37 1 11900256 11900256 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 11900256 11900256 G A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known silent c.2586 p.L862 0.999 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 133 96 41.92 227 0 0.00 CLCN7 1186 genome.wustl.edu 37 16 1502884 1502884 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1502884 1502884 G A SNP CLCN7 ENST00000382745 human ensembl 70_37 -1 known missense c.1225 p.R409W 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 38 17 30.91 32 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16349179 16349179 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16349179 16349179 G - DEL CLCNKA ENST00000331433 human ensembl 70_37 +1 known frame_shift_del c.65 p.G23fs 0.997 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 57 12 17.39 88 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16350317 16350317 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16350317 16350317 G A SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known silent c.123 p.Q41 0.948 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 40 33 45.21 44 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16355708 16355708 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16355708 16355708 G A SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known missense c.1141 p.E381K 0.855 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 56 21 27.27 62 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16356551 16356552 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 16356551 16356552 - G INS CLCNKA ENST00000331433 human ensembl 70_37 +1 known frame_shift_ins c.1389_1390 p.Y465fs 0.169:0.840 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 58 18 23.68 61 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16358720 16358720 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 16358720 16358720 C T SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known silent c.1779 p.I593 0.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 20 25 55.56 26 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16359706 16359706 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16359706 16359706 C G SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known missense c.1971 p.F657L 0.015 pfam_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 18 137 88.39 133 0 0.00 CLCNKA 1187 genome.wustl.edu 37 1 16360323 16360323 + RNA SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 16360323 16360323 G T SNP CLCNKA ENST00000464764 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLCNKA HGNC ENSG00000186510 33 7 17.50 28 0 0.00 CLDN10 9071 genome.wustl.edu 37 13 96086290 96086290 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 96086290 96086290 T G SNP CLDN10 ENST00000376873 human ensembl 70_37 +1 known missense c.203 p.F68C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10 - no_errors CLDN10 HGNC ENSG00000134873 53 17 23.94 79 0 0.00 CLDN11 5010 genome.wustl.edu 37 3 170425951 170425951 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 170425951 170425951 G T SNP CLDN11 ENST00000480067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN11 HGNC ENSG00000013297 67 12 15.19 45 0 0.00 CLDN11 5010 genome.wustl.edu 37 3 170425957 170425957 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 170425957 170425957 G T SNP CLDN11 ENST00000480067 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CLDN11 HGNC ENSG00000013297 72 10 12.20 52 0 0.00 CLDN12 9069 genome.wustl.edu 37 7 90099218 90099218 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 90099218 90099218 C G SNP CLDN12 ENST00000498033 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN12 HGNC ENSG00000157224 22 12 35.29 34 0 0.00 CLDN16 10686 genome.wustl.edu 37 3 190105955 190105955 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 190105955 190105955 C G SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known missense c.47 p.S16C 0.043 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 23 10 30.30 30 0 0.00 CLDN16 10686 genome.wustl.edu 37 3 190106178 190106178 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 190106178 190106178 G T SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known missense c.270 p.L90F 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 26 10 27.78 27 0 0.00 CLDN16 10686 genome.wustl.edu 37 3 190120149 190120149 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 190120149 190120149 C G SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known silent c.348 p.L116 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 112 34 23.29 166 0 0.00 CLDN18 51208 genome.wustl.edu 37 3 137717717 137717717 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 137717717 137717717 G A SNP CLDN18 ENST00000343735 human ensembl 70_37 +1 known missense c.7 p.V3M 0.983 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 106 15 12.40 107 0 0.00 CLDN18 51208 genome.wustl.edu 37 3 137717751 137717751 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 137717751 137717751 C T SNP CLDN18 ENST00000343735 human ensembl 70_37 +1 known missense c.41 p.S14L 0.252 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 105 20 16.00 85 0 0.00 CLDN18 51208 genome.wustl.edu 37 3 137729133 137729133 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 137729133 137729133 C T SNP CLDN18 ENST00000183605 human ensembl 70_37 +1 known silent c.66 p.I22 0.042 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 50 9 15.25 36 0 0.00 CLDN18 51208 genome.wustl.edu 37 3 137729205 137729205 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 137729205 137729205 C T SNP CLDN18 ENST00000183605 human ensembl 70_37 +1 known silent c.138 p.Y46 0.990 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 19 24 55.81 65 0 0.00 CLDN2 9075 genome.wustl.edu 37 X 106171611 106171611 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 106171611 106171611 G C SNP CLDN2 ENST00000336803 human ensembl 70_37 +1 known missense c.153 p.W51C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 31 13 29.55 25 0 0.00 CLDN2 9075 genome.wustl.edu 37 X 106171764 106171764 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 106171764 106171764 G C SNP CLDN2 ENST00000336803 human ensembl 70_37 +1 known missense c.306 p.M102I 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 55 30 35.29 68 0 0.00 CLDN20 49861 genome.wustl.edu 37 6 155596973 155596973 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155596973 155596973 C T SNP CLDN20 ENST00000367165 human ensembl 70_37 +1 known silent c.120 p.I40 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC ENSG00000171217 20 6 23.08 30 0 0.00 CLDN22 53842 genome.wustl.edu 37 4 184240795 184240795 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 184240795 184240795 G A SNP CLDN22 ENST00000323319 human ensembl 70_37 -1 known missense c.577 p.P193S 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 40 20 33.33 75 0 0.00 CLDN22 53842 genome.wustl.edu 37 4 184240979 184240979 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 184240979 184240979 G A SNP CLDN22 ENST00000323319 human ensembl 70_37 -1 known silent c.393 p.V131 0.008 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 51 76 59.84 103 0 0.00 CLDN24 100132463 genome.wustl.edu 37 4 184242961 184242961 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 184242961 184242961 G T SNP CLDN24 ENST00000541814 human ensembl 70_37 -1 known missense c.619 p.Q207K 0.078 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN24 HGNC ENSG00000185758 11 4 26.67 32 0 0.00 CLDN25 644672 genome.wustl.edu 37 11 113651087 113651087 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113651087 113651087 A G SNP CLDN25 ENST00000453129 human ensembl 70_37 +1 known silent c.570 p.G190 0.606 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 37 13 26.00 48 0 0.00 CLDN3 1365 genome.wustl.edu 37 7 73183783 73183783 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 73183783 73183783 G A SNP CLDN3 ENST00000395145 human ensembl 70_37 -1 known silent c.597 p.S199 0.282 prints_Claudin3 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3 - no_errors CLDN3 HGNC ENSG00000165215 100 14 12.28 56 0 0.00 CLDN6 9074 genome.wustl.edu 37 16 3065630 3065630 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3065630 3065630 C G SNP CLDN6 ENST00000328796 human ensembl 70_37 -1 known silent c.393 p.L131 0.952 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 48 19 28.36 36 0 0.00 CLDN8 9073 genome.wustl.edu 37 21 31587732 31587732 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 31587732 31587732 G C SNP CLDN8 ENST00000286809 human ensembl 70_37 -1 known missense c.512 p.T171R 0.999 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 38 33 46.48 93 0 0.00 CLEC10A 10462 genome.wustl.edu 37 17 6978956 6978956 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 6978956 6978956 G T SNP CLEC10A ENST00000576617 human ensembl 70_37 -1 known missense c.688 p.Q230K 0.001 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold - no_errors CLEC10A HGNC ENSG00000132514 18 4 18.18 34 0 0.00 CLEC10A 10462 genome.wustl.edu 37 17 6980275 6980275 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 6980275 6980275 C T SNP CLEC10A ENST00000254868 human ensembl 70_37 -1 known silent c.216 p.L72 0.381 pfam_Lectin_N pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC10A HGNC ENSG00000132514 47 14 22.95 45 0 0.00 CLEC11A 6320 genome.wustl.edu 37 19 51228562 51228562 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 51228562 51228562 C T SNP CLEC11A ENST00000599973 human ensembl 70_37 +1 novel nonsense c.859 p.R287* 0.006 NULL NULL - no_errors CLEC11A HGNC ENSG00000105472 12 14 53.85 14 0 0.00 CLEC11A 6320 genome.wustl.edu 37 19 51228588 51228588 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 51228588 51228588 C T SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.836 p.S279L 0.639 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 33 12 26.67 18 0 0.00 CLEC11A 6320 genome.wustl.edu 37 19 51228632 51228632 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 51228632 51228632 G C SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 15 4 21.05 12 0 0.00 CLEC11A 6320 genome.wustl.edu 37 19 51228632 51228632 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 51228632 51228632 G C SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 28 15 34.88 19 0 0.00 CLEC12A 160364 genome.wustl.edu 37 12 10124202 10124202 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 10124202 10124202 G A SNP CLEC12A ENST00000355690 human ensembl 70_37 +1 known missense c.37 p.E13K 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 35 12 25.53 41 0 0.00 CLEC12A 160364 genome.wustl.edu 37 12 10134688 10134688 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 10134688 10134688 C T SNP CLEC12A ENST00000355690 human ensembl 70_37 +1 known missense c.631 p.R211C 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 51 7 11.86 59 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38723786 38723786 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 38723786 38723786 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known missense c.1442 p.A481V 0.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 29 22 42.31 25 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38723950 38723950 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 38723950 38723950 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known silent c.1278 p.H426 1.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 36 22 37.93 28 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38724060 38724060 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 38724060 38724060 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known nonsense c.1168 p.Q390* 0.010 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 28 10 26.32 35 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38724388 38724388 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 38724388 38724388 C T SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known silent c.840 p.G280 0.064 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 144 32 18.18 224 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38724396 38724396 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 38724396 38724396 C G SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known missense c.832 p.E278Q 0.580 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 72 48 40.00 121 0 0.00 CLEC14A 161198 genome.wustl.edu 37 14 38724897 38724897 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 38724897 38724897 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known missense c.331 p.R111W 0.992 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 51 10 16.39 86 0 0.00 CLEC16A 23274 genome.wustl.edu 37 16 11097066 11097066 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11097066 11097066 G A SNP CLEC16A ENST00000409790 human ensembl 70_37 +1 known missense c.1207 p.E403K 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 56 22 27.85 28 0 0.00 CLEC16A 23274 genome.wustl.edu 37 16 11154829 11154829 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 11154829 11154829 C T SNP CLEC16A ENST00000409790 human ensembl 70_37 +1 known missense c.2066 p.P689L 0.998 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 59 13 18.06 99 0 0.00 CLEC17A 388512 genome.wustl.edu 37 19 14703128 14703128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 14703128 14703128 G C SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known missense c.235 p.E79Q 0.158 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 50 14 21.88 59 0 0.00 CLEC17A 388512 genome.wustl.edu 37 19 14703135 14703135 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14703135 14703135 C G SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known nonsense c.242 p.S81* 0.004 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 41 35 46.05 60 0 0.00 CLEC17A 388512 genome.wustl.edu 37 19 14710943 14710943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14710943 14710943 C T SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known silent c.843 p.F281 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 22 11 33.33 56 0 0.00 CLEC18B 497190 genome.wustl.edu 37 16 74444526 74444526 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 74444526 74444526 G T SNP CLEC18B ENST00000339953 human ensembl 70_37 -1 known silent c.1119 p.L373 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 50 15 23.08 61 0 0.00 CLEC1B 51266 genome.wustl.edu 37 12 10151671 10151671 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10151671 10151671 A G SNP CLEC1B ENST00000298527 human ensembl 70_37 -1 known missense c.29 p.L10S 0.813 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC ENSG00000165682 17 4 19.05 31 0 0.00 CLEC2B 9976 genome.wustl.edu 37 12 10007077 10007077 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 10007077 10007077 G A SNP CLEC2B ENST00000228438 human ensembl 70_37 -1 known missense c.244 p.L82F 0.101 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 44 16 26.67 46 0 0.00 CLEC2B 9976 genome.wustl.edu 37 12 10007089 10007089 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 10007089 10007089 G C SNP CLEC2B ENST00000538152 human ensembl 70_37 -1 putative missense c.25 p.L9V 0.479 NULL superfamily_C-type_lectin_fold - no_errors CLEC2B HGNC ENSG00000110852 37 16 29.63 41 0 0.00 CLEC3B 7123 genome.wustl.edu 37 3 45067904 45067904 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 45067904 45067904 C G SNP CLEC3B ENST00000296130 human ensembl 70_37 +1 known missense c.50 p.T17S 0.997 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 27 4 12.90 33 0 0.00 CLEC3B 7123 genome.wustl.edu 37 3 45077054 45077054 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 45077054 45077054 C G SNP CLEC3B ENST00000296130 human ensembl 70_37 +1 known missense c.247 p.L83V 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 25 25 50.00 34 0 0.00 CLEC3B 7123 genome.wustl.edu 37 3 45077228 45077228 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 45077228 45077228 G A SNP CLEC3B ENST00000296130 human ensembl 70_37 +1 known missense c.421 p.E141K 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 58 35 37.63 87 0 0.00 CLEC4A 50856 genome.wustl.edu 37 12 8289436 8289436 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 8289436 8289436 C G SNP CLEC4A ENST00000229332 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.960 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 34 27 44.26 57 0 0.00 CLEC4C 170482 genome.wustl.edu 37 12 7882230 7882230 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 7882230 7882230 G A SNP CLEC4C ENST00000360345 human ensembl 70_37 -1 known nonsense c.604 p.Q202* 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 44 6 12.00 53 0 0.00 CLEC4D 338339 genome.wustl.edu 37 12 8672931 8672931 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 8672931 8672931 G A SNP CLEC4D ENST00000299665 human ensembl 70_37 +1 known missense c.494 p.R165H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 19 12 38.71 26 0 0.00 CLEC4D 338339 genome.wustl.edu 37 12 8673805 8673805 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 8673805 8673805 G A SNP CLEC4D ENST00000299665 human ensembl 70_37 +1 known missense c.586 p.D196N 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 67 10 12.99 50 0 0.00 CLEC4F 165530 genome.wustl.edu 37 2 71043160 71043160 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 71043160 71043160 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.1353 p.V451 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 72 23 23.96 95 0 0.00 CLEC4F 165530 genome.wustl.edu 37 2 71043160 71043160 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 71043160 71043160 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.1353 p.V451 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 88 12 12.00 125 0 0.00 CLEC4F 165530 genome.wustl.edu 37 2 71046974 71046974 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 71046974 71046974 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.111 p.L37 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 32 31 49.21 31 0 0.00 CLEC4F 165530 genome.wustl.edu 37 2 71046981 71046981 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 71046981 71046981 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known missense c.104 p.P35L 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 40 15 27.27 60 0 0.00 CLEC4G 339390 genome.wustl.edu 37 19 7794814 7794814 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 7794814 7794814 G A SNP CLEC4G ENST00000328853 human ensembl 70_37 -1 known silent c.636 p.L212 0.275 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 49 29 37.18 72 0 0.00 CLEC4G 339390 genome.wustl.edu 37 19 7795304 7795304 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7795304 7795304 G A SNP CLEC4G ENST00000328853 human ensembl 70_37 -1 known silent c.411 p.A137 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 79 15 15.96 116 0 0.00 CLEC4M 10332 genome.wustl.edu 37 19 7831066 7831066 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 7831066 7831066 G C SNP CLEC4M ENST00000327325 human ensembl 70_37 +1 known missense c.757 p.E253Q 0.036 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 71 11 13.41 96 0 0.00 CLEC5A 23601 genome.wustl.edu 37 7 141635692 141635692 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 141635692 141635692 T C SNP CLEC5A ENST00000546910 human ensembl 70_37 -1 known silent c.267 p.E89 0.069 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC5A HGNC ENSG00000258227 64 15 18.99 98 0 0.00 CLEC7A 64581 genome.wustl.edu 37 12 10279189 10279189 + Silent SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 10279189 10279189 G T SNP CLEC7A ENST00000304084 human ensembl 70_37 -1 known silent c.321 p.T107 0.828 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 35 4 10.26 38 0 0.00 CLEC9A 283420 genome.wustl.edu 37 12 10194129 10194129 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 10194129 10194129 C A SNP CLEC9A ENST00000544751 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors CLEC9A HGNC ENSG00000197992 9 10 52.63 64 0 0.00 CLHC1 130162 genome.wustl.edu 37 2 55403113 55403113 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55403113 55403113 T C SNP CLHC1 ENST00000401408 human ensembl 70_37 -1 known missense c.1574 p.E525G 0.154 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 19 9 32.14 38 0 0.00 CLHC1 130162 genome.wustl.edu 37 2 55436648 55436648 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 55436648 55436648 G C SNP CLHC1 ENST00000401408 human ensembl 70_37 -1 known missense c.706 p.Q236E 0.994 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 31 4 10.81 40 0 0.00 CLIC3 9022 genome.wustl.edu 37 9 139890114 139890114 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 139890114 139890114 C T SNP CLIC3 ENST00000494426 human ensembl 70_37 -1 known silent c.129 p.T43 0.018 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel - no_errors CLIC3 HGNC ENSG00000169583 19 3 13.64 23 0 0.00 CLIC5 53405 genome.wustl.edu 37 6 45882184 45882184 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 45882184 45882184 C T SNP CLIC5 ENST00000484572 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLIC5 HGNC ENSG00000112782 40 21 34.43 47 0 0.00 CLIC5 53405 genome.wustl.edu 37 6 45909283 45909283 + Splice_Site SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 6 45909283 45909283 C T SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known splice_site c.883+1 e4+1 1.000 - - - no_errors CLIC5 HGNC ENSG00000112782 99 45 31.03 146 0 0.00 CLIC5 53405 genome.wustl.edu 37 6 46047621 46047621 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 46047621 46047621 C T SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known missense c.359 p.C120Y 0.000 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 30 8 21.05 38 0 0.00 CLIC5 53405 genome.wustl.edu 37 6 46047623 46047623 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 46047623 46047623 G A SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known silent c.357 p.L119 0.000 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 39 10 20.41 55 0 0.00 CLIC5 53405 genome.wustl.edu 37 6 46047901 46047901 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46047901 46047901 C A SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known nonsense c.79 p.E27* 0.028 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 58 34 36.96 162 0 0.00 CLINT1 9685 genome.wustl.edu 37 5 157232884 157232884 + Missense_Mutation SNP G G C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 5 157232884 157232884 G C SNP CLINT1 ENST00000296951 human ensembl 70_37 -1 known missense c.878 p.S293C 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 35 18 33.96 80 0 0.00 CLIP1 6249 genome.wustl.edu 37 12 122763443 122763443 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122763443 122763443 G C SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.3812 p.S1271* 0.695 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 32 9 21.95 37 0 0.00 CLIP1 6249 genome.wustl.edu 37 12 122794404 122794404 + Nonsense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122794404 122794404 G A SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.3499 p.Q1167* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 29 4 12.12 35 0 0.00 CLIP1 6249 genome.wustl.edu 37 12 122835663 122835663 + Nonsense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 122835663 122835663 C A SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.1396 p.E466* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 26 3 10.34 50 0 0.00 CLIP1 6249 genome.wustl.edu 37 12 122862424 122862424 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122862424 122862424 C T SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known missense c.169 p.D57N 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 19 11 35.48 19 0 0.00 CLIP2 7461 genome.wustl.edu 37 7 73753046 73753046 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 73753046 73753046 C T SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known silent c.390 p.F130 0.999 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 60 36 37.50 122 0 0.00 CLIP2 7461 genome.wustl.edu 37 7 73814818 73814818 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 73814818 73814818 C T SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known missense c.2999 p.A1000V 0.973 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 27 3 10.00 33 0 0.00 CLIP2 7461 genome.wustl.edu 37 7 73815874 73815874 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 73815874 73815874 C G SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known missense c.3106 p.Q1036E 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 30 9 23.08 42 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36508769 36508769 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 36508769 36508769 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known silent c.1308 p.G436 0.993 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 66 39 37.14 158 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36508779 36508779 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36508779 36508779 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.1298 p.R433H 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 6 9 60.00 21 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36508864 36508864 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 36508864 36508864 G C SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.1213 p.L405V 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 9 4 30.77 18 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36517911 36517911 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36517911 36517911 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.343 p.G115R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 46 42 47.73 25 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36517911 36517911 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36517911 36517911 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.343 p.G115R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 47 22 31.88 43 0 0.00 CLIP3 25999 genome.wustl.edu 37 19 36518143 36518143 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36518143 36518143 G A SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.197 p.A66V 0.998 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 57 9 13.43 57 0 0.00 CLK1 1195 genome.wustl.edu 37 2 201721630 201721630 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201721630 201721630 G A SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.911 p.A304V 0.001 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC ENSG00000013441 17 8 32.00 32 0 0.00 CLK1 1195 genome.wustl.edu 37 2 201722520 201722520 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201722520 201722520 G A SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known silent c.753 p.F251 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC ENSG00000013441 21 14 38.89 31 0 0.00 CLK1 1195 genome.wustl.edu 37 2 201722750 201722750 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 201722750 201722750 C T SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.611 p.R204H 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC ENSG00000013441 36 10 21.74 42 0 0.00 CLK1 1195 genome.wustl.edu 37 2 201724850 201724850 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 201724850 201724850 C G SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.479 p.R160T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC ENSG00000013441 50 8 13.79 42 0 0.00 CLK1 1195 genome.wustl.edu 37 2 201726555 201726555 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 201726555 201726555 C G SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.31 p.D11H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC ENSG00000013441 73 32 30.48 85 0 0.00 CLK2 1196 genome.wustl.edu 37 1 155235704 155235704 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155235704 155235704 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 74 38 33.93 46 0 0.00 CLK2 1196 genome.wustl.edu 37 1 155238500 155238500 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155238500 155238500 T A SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known silent c.486 p.R162 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 58 20 25.64 95 0 0.00 CLK2 1196 genome.wustl.edu 37 1 155239279 155239279 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 155239279 155239279 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known silent c.399 p.S133 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 19 30 61.22 25 0 0.00 CLK2 1196 genome.wustl.edu 37 1 155239463 155239463 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155239463 155239463 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.215 p.R72Q 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 47 14 22.95 25 0 0.00 CLK2 1196 genome.wustl.edu 37 1 155239497 155239497 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155239497 155239497 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.181 p.D61N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 30 15 33.33 52 0 0.00 CLK3 1198 genome.wustl.edu 37 15 74912445 74912445 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 74912445 74912445 A G SNP CLK3 ENST00000395066 human ensembl 70_37 +1 known missense c.692 p.Y231C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK3 HGNC ENSG00000179335 72 19 20.88 100 0 0.00 CLK3 1198 genome.wustl.edu 37 15 74922134 74922134 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 74922134 74922134 C G SNP CLK3 ENST00000395066 human ensembl 70_37 +1 known missense c.1827 p.I609M 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK3 HGNC ENSG00000179335 38 7 15.56 50 0 0.00 CLK4 57396 genome.wustl.edu 37 5 178030740 178030740 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 178030740 178030740 C T SNP CLK4 ENST00000316308 human ensembl 70_37 -1 known missense c.1324 p.D442N 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK4 HGNC ENSG00000113240 3 11 78.57 39 0 0.00 CLK4 57396 genome.wustl.edu 37 5 178043942 178043942 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178043942 178043942 G A SNP CLK4 ENST00000522136 human ensembl 70_37 -1 known missense c.392 p.S131L 1.000 NULL NULL - no_errors CLK4 HGNC ENSG00000113240 8 5 38.46 41 0 0.00 CLMN 79789 genome.wustl.edu 37 14 95669685 95669685 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 95669685 95669685 A G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known silent c.2001 p.R667 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 33 21 38.89 97 0 0.00 CLMN 79789 genome.wustl.edu 37 14 95669981 95669981 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 95669981 95669981 C T SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1705 p.D569N 0.012 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 81 21 20.59 54 0 0.00 CLMN 79789 genome.wustl.edu 37 14 95670454 95670454 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 95670454 95670454 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1232 p.R411T 0.970 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 103 23 18.11 142 0 0.00 CLMN 79789 genome.wustl.edu 37 14 95670454 95670454 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 95670454 95670454 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1232 p.R411T 0.970 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 46 7 13.21 32 0 0.00 CLMN 79789 genome.wustl.edu 37 14 95688036 95688036 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 95688036 95688036 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.316 p.D106H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 93 50 34.97 92 0 0.00 CLN3 1201 genome.wustl.edu 37 16 28502380 28502380 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 28502380 28502380 G C SNP CLN3 ENST00000565236 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CLN3 HGNC ENSG00000188603 45 5 10.00 29 0 0.00 CLN5 1203 genome.wustl.edu 37 13 77574637 77574637 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 77574637 77574637 G C SNP CLN5 ENST00000377453 human ensembl 70_37 +1 known missense c.757 p.E253Q 1.000 NULL NULL - no_errors CLN5 HGNC ENSG00000102805 11 9 45.00 18 0 0.00 CLNK 116449 genome.wustl.edu 37 4 10509620 10509620 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 10509620 10509620 C T SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.947 p.R316H 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 16 19 54.29 35 0 0.00 CLNK 116449 genome.wustl.edu 37 4 10515215 10515215 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 10515215 10515215 C T SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.779 p.R260K 0.006 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 11 7 38.89 19 0 0.00 CLNK 116449 genome.wustl.edu 37 4 10542129 10542129 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 10542129 10542129 C G SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.591 p.Q197H 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 47 27 36.49 116 0 0.00 CLNS1A 1207 genome.wustl.edu 37 11 77340878 77340878 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 77340878 77340878 A T SNP CLNS1A ENST00000525428 human ensembl 70_37 -1 known missense c.192 p.H64Q 1.000 prints_ICln_channel prints_ICln_channel - no_errors CLNS1A HGNC ENSG00000074201 50 14 21.54 63 0 0.00 CLOCK 9575 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 70_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 25 3 10.71 63 0 0.00 CLOCK 9575 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 70_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 27 3 10.00 37 0 0.00 CLP1 10978 genome.wustl.edu 37 11 57427146 57427146 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57427146 57427146 C T SNP CLP1 ENST00000525602 human ensembl 70_37 +1 known silent c.198 p.F66 1.000 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors CLP1 HGNC ENSG00000172409 32 18 36.00 61 0 0.00 CLPB 81570 genome.wustl.edu 37 11 72005439 72005439 + Missense_Mutation SNP T T C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 72005439 72005439 T C SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.1700 p.Y567C 1.000 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC ENSG00000162129 52 11 17.19 66 0 0.00 CLPB 81570 genome.wustl.edu 37 11 72006666 72006666 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 72006666 72006666 C G SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.1446 p.K482N 1.000 pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,smart_AAA+_ATPase pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC ENSG00000162129 6 7 53.85 26 0 0.00 CLPB 81570 genome.wustl.edu 37 11 72070032 72070032 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 72070032 72070032 C A SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.757 p.D253Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC ENSG00000162129 36 15 29.41 96 0 0.00 CLPP 8192 genome.wustl.edu 37 19 6368611 6368611 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6368611 6368611 G C SNP CLPP ENST00000245816 human ensembl 70_37 +1 known missense c.724 p.D242H 1.000 pfam_ClpP/TepA,prints_ClpP pfam_ClpP/TepA,prints_ClpP - no_errors CLPP HGNC ENSG00000125656 31 43 58.11 64 0 0.00 CLPS 1208 genome.wustl.edu 37 6 35762944 35762944 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 35762944 35762944 G A SNP CLPS ENST00000259938 human ensembl 70_37 -1 known silent c.318 p.D106 0.008 pfam_Colipase_C,smart_Colipase,prints_Colipase pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase - no_errors CLPS HGNC ENSG00000137392 65 19 22.62 52 0 0.00 CLPTM1 1209 genome.wustl.edu 37 19 45493813 45493813 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 45493813 45493813 C G SNP CLPTM1 ENST00000337392 human ensembl 70_37 +1 known silent c.1293 p.L431 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 26 11 29.73 56 0 0.00 CLPTM1L 81037 genome.wustl.edu 37 5 1341804 1341804 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 1341804 1341804 G A SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known silent c.435 p.T145 0.004 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 23 18 42.86 53 0 0.00 CLPTM1L 81037 genome.wustl.edu 37 5 1344504 1344504 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 1344504 1344504 C G SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known missense c.225 p.L75F 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 23 8 25.81 16 0 0.00 CLPTM1L 81037 genome.wustl.edu 37 5 1344527 1344527 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 1344527 1344527 C T SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known missense c.202 p.E68K 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 16 7 30.43 18 0 0.00 CLRN1-AS1 116933 genome.wustl.edu 37 3 150690496 150690496 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 150690496 150690496 G A SNP CLRN1-AS1 ENST00000465576 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CLRN1-AS1 HGNC ENSG00000239265 37 7 15.91 17 0 0.00 CLRN3 119467 genome.wustl.edu 37 10 129682072 129682072 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 129682072 129682072 C G SNP CLRN3 ENST00000368671 human ensembl 70_37 -1 known silent c.297 p.L99 0.003 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 25 18 41.86 34 0 0.00 CLSPN 63967 genome.wustl.edu 37 1 36204766 36204766 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 36204766 36204766 C T SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known missense c.3401 p.R1134Q 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 84 22 20.75 86 0 0.00 CLSPN 63967 genome.wustl.edu 37 1 36226099 36226099 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 36226099 36226099 C T SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known missense c.1423 p.E475K 0.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 110 32 22.54 105 0 0.00 CLSPN 63967 genome.wustl.edu 37 1 36230312 36230312 + Nonsense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 36230312 36230312 G C SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known nonsense c.137 p.S46* 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 14 4 22.22 11 0 0.00 CLSTN1 22883 genome.wustl.edu 37 1 9791276 9791276 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 9791276 9791276 G A SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known silent c.2736 p.V912 0.989 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 34 21 38.18 68 0 0.00 CLSTN1 22883 genome.wustl.edu 37 1 9794074 9794074 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 9794074 9794074 T C SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known missense c.2237 p.K746R 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 43 10 18.87 49 0 0.00 CLSTN1 22883 genome.wustl.edu 37 1 9796007 9796007 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 9796007 9796007 C G SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known missense c.1670 p.C557S 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 66 24 26.67 81 0 0.00 CLSTN2 64084 genome.wustl.edu 37 3 140122483 140122483 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 140122483 140122483 C T SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.245 p.A82V 0.981 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 22 9 29.03 34 0 0.00 CLSTN2 64084 genome.wustl.edu 37 3 140167531 140167531 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 140167531 140167531 C G SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.958 p.L320V 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 33 9 21.43 23 0 0.00 CLSTN2 64084 genome.wustl.edu 37 3 140281106 140281106 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 140281106 140281106 G C SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2168 p.R723P 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 67 22 24.18 62 0 0.00 CLSTN2 64084 genome.wustl.edu 37 3 140281742 140281742 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 140281742 140281742 C T SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2302 p.R768W 0.850 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 43 11 20.37 40 0 0.00 CLSTN2 64084 genome.wustl.edu 37 3 140284961 140284961 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 140284961 140284961 G A SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2734 p.E912K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 49 26 34.67 51 0 0.00 CLSTN3 9746 genome.wustl.edu 37 12 7290643 7290643 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7290643 7290643 T C SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1303 p.F435L 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 18 16 47.06 41 0 0.00 CLSTN3 9746 genome.wustl.edu 37 12 7301578 7301578 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 7301578 7301578 G A SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1858 p.E620K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 37 9 19.57 26 0 0.00 CLSTN3 9746 genome.wustl.edu 37 12 7301578 7301578 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 7301578 7301578 G A SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1858 p.E620K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 68 18 20.93 52 0 0.00 CLSTN3 9746 genome.wustl.edu 37 12 7301773 7301773 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 7301773 7301773 G T SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.2053 p.D685Y 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 20 6 23.08 31 0 0.00 CLTA 1211 genome.wustl.edu 37 9 36204091 36204091 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36204091 36204091 G C SNP CLTA ENST00000464497 human ensembl 70_37 +1 known missense c.400 p.E134Q 0.998 pfam_Clathrin_L-chain pfam_Clathrin_L-chain - no_errors CLTA HGNC ENSG00000122705 55 24 30.38 59 0 0.00 CLTB 1212 genome.wustl.edu 37 5 175819939 175819939 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 175819939 175819939 C T SNP CLTB ENST00000310418 human ensembl 70_37 -1 known missense c.526 p.E176K 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C - no_errors CLTB HGNC ENSG00000175416 32 10 23.81 45 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57724983 57724983 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57724983 57724983 G T SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.475 p.D159Y 1.000 pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 46 9 16.36 77 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57741230 57741230 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 57741230 57741230 C G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.1396 p.L466V 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 25 23 47.92 70 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57742163 57742163 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 57742163 57742163 G A SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.1537 p.D513N 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 19 11 36.67 47 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57754406 57754406 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57754406 57754406 G C SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.2653 p.D885H 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 22 14 38.89 28 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57759153 57759153 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 57759153 57759153 A G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.3395 p.D1132G 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 20 4 16.67 45 0 0.00 CLTC 1213 genome.wustl.edu 37 17 57761320 57761320 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57761320 57761320 C G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.4408 p.L1470V 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 21 15 41.67 23 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19168280 19168280 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19168280 19168280 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.4867 p.E1623K 0.914 pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 42 11 20.75 50 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19183791 19183791 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 19183791 19183791 C A SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.4177 p.D1393Y 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 33 5 13.16 48 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19207507 19207507 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 19207507 19207507 C G SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.2806 p.E936Q 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 42 21 33.33 83 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19210232 19210232 + Missense_Mutation SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 19210232 19210232 C G SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.2393 p.R798T 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 35 11 23.91 55 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19213066 19213066 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 19213066 19213066 G A SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known nonsense c.2038 p.Q680* 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 14 14 50.00 37 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19221125 19221125 + Missense_Mutation SNP C C A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 22 19221125 19221125 C A SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.1188 p.E396D 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 31 28 47.46 29 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19230407 19230407 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 19230407 19230407 G C SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known nonsense c.572 p.S191* 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 27 14 34.15 34 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19241716 19241716 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19241716 19241716 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.285 p.M95I 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 20 12 37.50 23 0 0.00 CLTCL1 8218 genome.wustl.edu 37 22 19241721 19241721 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19241721 19241721 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.280 p.E94K 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 23 14 37.84 23 0 0.00 CLUAP1 23059 genome.wustl.edu 37 16 3569995 3569995 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3569995 3569995 G A SNP CLUAP1 ENST00000576634 human ensembl 70_37 +1 known silent c.672 p.L224 1.000 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 62 10 13.70 58 0 0.00 CLUL1 27098 genome.wustl.edu 37 18 619248 619248 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 619248 619248 G A SNP CLUL1 ENST00000338387 human ensembl 70_37 +1 known missense c.142 p.E48K 1.000 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 68 15 18.07 70 0 0.00 CLUL1 27098 genome.wustl.edu 37 18 641528 641528 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 641528 641528 T G SNP CLUL1 ENST00000338387 human ensembl 70_37 +1 known missense c.1196 p.F399C 0.965 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 8 9 52.94 14 0 0.00 CLVS1 157807 genome.wustl.edu 37 8 62212607 62212607 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 62212607 62212607 C T SNP CLVS1 ENST00000325897 human ensembl 70_37 +1 known missense c.221 p.A74V 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 58 9 13.43 34 0 0.00 CLVS1 157807 genome.wustl.edu 37 8 62377357 62377357 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 62377357 62377357 G A SNP CLVS1 ENST00000518858 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CLVS1 HGNC ENSG00000177182 32 17 34.69 42 0 0.00 CLVS1 157807 genome.wustl.edu 37 8 62412295 62412295 + RNA DEL T T - TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 62412295 62412295 T - DEL CLVS1 ENST00000518858 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CLVS1 HGNC ENSG00000177182 26 5 16.13 31 0 0.00 CLVS2 134829 genome.wustl.edu 37 6 123319253 123319253 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 123319253 123319253 C G SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.331 p.L111V 0.997 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 22 5 18.52 21 0 0.00 CLVS2 134829 genome.wustl.edu 37 6 123369870 123369870 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 123369870 123369870 G A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.668 p.R223Q 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 103 19 15.57 105 0 0.00 CLVS2 134829 genome.wustl.edu 37 6 123376999 123376999 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 123376999 123376999 C A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.724 p.P242T 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 17 13 43.33 20 0 0.00 CLVS2 134829 genome.wustl.edu 37 6 123377007 123377007 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 123377007 123377007 C T SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known silent c.732 p.I244 0.948 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 75 15 16.67 71 0 0.00 CLVS2 134829 genome.wustl.edu 37 6 123377039 123377039 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 123377039 123377039 C A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.764 p.P255H 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 26 3 10.34 45 0 0.00 CMAHP 8418 genome.wustl.edu 37 6 25084933 25084933 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 25084933 25084933 G C SNP CMAHP ENST00000471416 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CMAHP HGNC ENSG00000168405 6 28 80.00 27 0 0.00 CMAHP 8418 genome.wustl.edu 37 6 25097387 25097387 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 25097387 25097387 G A SNP CMAHP ENST00000377989 human ensembl 70_37 -1 known silent c.840 p.L280 0.999 NULL NULL - no_errors CMAHP HGNC ENSG00000168405 70 60 46.15 124 0 0.00 CMAHP 8418 genome.wustl.edu 37 6 25109773 25109773 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 25109773 25109773 C A SNP CMAHP ENST00000377989 human ensembl 70_37 -1 known missense c.478 p.G160C 1.000 NULL NULL - no_errors CMAHP HGNC ENSG00000168405 6 8 57.14 32 0 0.00 CMBL 134147 genome.wustl.edu 37 5 10286563 10286563 + Silent SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 10286563 10286563 G A SNP CMBL ENST00000296658 human ensembl 70_37 -1 known silent c.369 p.A123 0.935 pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase - no_errors CMBL HGNC ENSG00000164237 15 10 40.00 39 0 0.00 CMC2 56942 genome.wustl.edu 37 16 81031011 81031011 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 81031011 81031011 G A SNP CMC2 ENST00000562828 human ensembl 70_37 -1 putative rna NULL NULL 0.090 - - - no_errors CMC2 HGNC ENSG00000103121 45 6 11.76 53 0 0.00 CMC4 100272147 genome.wustl.edu 37 X 154290189 154290189 + Silent SNP T T G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 X 154290189 154290189 T G SNP CMC4 ENST00000369479 human ensembl 70_37 -1 known silent c.136 p.R46 1.000 pfam_MTCP1,superfamily_MTCP1 pfam_MTCP1,superfamily_MTCP1 - no_errors CMC4 HGNC ENSG00000182712 35 18 33.96 43 0 0.00 CMIP 80790 genome.wustl.edu 37 16 81479049 81479049 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 81479049 81479049 C T SNP CMIP ENST00000537098 human ensembl 70_37 +1 known missense c.203 p.P68L 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 36 13 26.53 42 0 0.00 CMIP 80790 genome.wustl.edu 37 16 81703836 81703836 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 81703836 81703836 G A SNP CMIP ENST00000537098 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 53 13 19.70 87 0 0.00 CMIP 80790 genome.wustl.edu 37 16 81703846 81703846 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 81703846 81703846 C T SNP CMIP ENST00000537098 human ensembl 70_37 +1 known nonsense c.925 p.Q309* 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 10 19 63.33 74 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108685762 108685762 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 108685762 108685762 G C SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.978 p.F326L 1.000 prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 20 30 57.69 32 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108685762 108685762 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 108685762 108685762 G C SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.978 p.F326L 1.000 prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 37 35 48.61 63 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108685872 108685872 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 108685872 108685872 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.868 p.P290S 0.668 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 33 17 34.00 50 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108685989 108685989 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108685989 108685989 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.751 p.R251C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_Frt_met_rcpt,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 27 23 46.00 43 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108686038 108686038 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 108686038 108686038 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known silent c.702 p.L234 0.131 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 20 12 37.50 40 0 0.00 CMKLR1 1240 genome.wustl.edu 37 12 108686584 108686584 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 108686584 108686584 G T SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.156 p.F52L 0.994 prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 29 4 12.12 30 0 0.00 CMPK2 129607 genome.wustl.edu 37 2 6988805 6988805 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 6988805 6988805 G C SNP CMPK2 ENST00000478738 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC ENSG00000134326 22 5 18.52 20 0 0.00 CMPK2 129607 genome.wustl.edu 37 2 7003658 7003658 + Missense_Mutation SNP A A G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 7003658 7003658 A G SNP CMPK2 ENST00000458098 human ensembl 70_37 -1 known missense c.727 p.C243R 1.000 pirsf_UMP-CMP_kinase_mit pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC ENSG00000134326 35 25 41.67 49 0 0.00 CMSS1 84319 genome.wustl.edu 37 3 99536827 99536827 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 99536827 99536827 G T SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.4 p.A2S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC ENSG00000184220 26 19 42.22 32 0 0.00 CMSS1 84319 genome.wustl.edu 37 3 99536827 99536827 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 99536827 99536827 G T SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.4 p.A2S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC ENSG00000184220 41 5 10.87 50 0 0.00 CMSS1 84319 genome.wustl.edu 37 3 99865816 99865816 + Splice_Site SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 99865816 99865816 G A SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known splice_site c.65-1 e2-1 0.053 - - - no_errors CMSS1 HGNC ENSG00000184220 25 28 52.83 34 0 0.00 CMSS1 84319 genome.wustl.edu 37 3 99879313 99879313 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 99879313 99879313 G A SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.193 p.E65K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC ENSG00000184220 15 9 37.50 40 0 0.00 CMSS1 84319 genome.wustl.edu 37 3 99897391 99897391 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 99897391 99897391 G A SNP CMSS1 ENST00000494412 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CMSS1 HGNC ENSG00000184220 37 32 46.38 32 0 0.00 CMTM1 113540 genome.wustl.edu 37 16 66612745 66612745 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 66612745 66612745 C T SNP CMTM1 ENST00000332695 human ensembl 70_37 +1 known silent c.210 p.L70 0.893 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 59 11 15.71 46 0 0.00 CMTM2 146225 genome.wustl.edu 37 16 66620928 66620928 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 66620928 66620928 C T SNP CMTM2 ENST00000268595 human ensembl 70_37 +1 known missense c.473 p.A158V 0.000 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 52 6 10.34 99 0 0.00 CMTM2 146225 genome.wustl.edu 37 16 66620961 66620961 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 66620961 66620961 G C SNP CMTM2 ENST00000268595 human ensembl 70_37 +1 known missense c.506 p.R169T 0.000 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 60 18 23.08 72 0 0.00 CMTM4 146223 genome.wustl.edu 37 16 66670350 66670350 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 66670350 66670350 G A SNP CMTM4 ENST00000330687 human ensembl 70_37 -1 known silent c.321 p.L107 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom - no_errors CMTM4 HGNC ENSG00000183723 57 11 15.94 66 0 0.00 CMTM5 116173 genome.wustl.edu 37 14 23847620 23847620 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 23847620 23847620 G A SNP CMTM5 ENST00000339180 human ensembl 70_37 +1 known silent c.189 p.A63 0.021 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 35 16 31.37 72 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79025497 79025497 + Missense_Mutation SNP G G C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 79025497 79025497 G C SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.909 p.W303C 0.999 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 9 4 30.77 9 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79025923 79025923 + Silent SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 79025923 79025923 A G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.1335 p.A445 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 51 56 52.34 200 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79027767 79027767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 79027767 79027767 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.3179 p.S1060L 0.042 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 8 8 50.00 11 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79027909 79027909 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 79027909 79027909 C G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.3321 p.L1107 0.922 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 76 13 14.61 112 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79029018 79029018 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 79029018 79029018 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4430 p.T1477I 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 31 20 39.22 32 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79029027 79029027 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 79029027 79029027 C G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4439 p.S1480C 0.870 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 10 7 41.18 17 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79029421 79029421 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79029421 79029421 A T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4833 p.Q1611H 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 6 4 40.00 28 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79030219 79030219 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 79030219 79030219 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.5631 p.V1877 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 1 3 75.00 19 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79030249 79030249 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 79030249 79030249 T G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.5661 p.I1887M 0.002 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 10 6 37.50 15 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79030491 79030491 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79030491 79030491 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.5903 p.S1968F 0.003 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 9 14 60.87 28 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79031279 79031279 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 79031279 79031279 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.6691 p.E2231K 0.019 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 14 5 26.32 19 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79032670 79032670 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 79032670 79032670 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.8082 p.V2694 0.020 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 17 6 26.09 31 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79032785 79032785 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79032785 79032785 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.8197 p.E2733K 0.150 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 15 22 59.46 40 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79032785 79032785 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 79032785 79032785 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.8197 p.E2733K 0.150 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 36 6 14.29 48 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79033976 79033976 + Missense_Mutation SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 79033976 79033976 A G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.9388 p.T3130A 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 3 2 40.00 14 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79034399 79034399 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 79034399 79034399 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.9811 p.D3271N 1.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 9 4 30.77 25 0 0.00 CMYA5 202333 genome.wustl.edu 37 5 79054713 79054713 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 79054713 79054713 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known nonsense c.11248 p.Q3750* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 14 3 17.65 53 0 0.00 CNBD1 168975 genome.wustl.edu 37 8 88249229 88249229 + Silent SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 88249229 88249229 A G SNP CNBD1 ENST00000518476 human ensembl 70_37 +1 known silent c.660 p.G220 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 26 20 43.48 31 0 0.00 CNBD1 168975 genome.wustl.edu 37 8 88249266 88249266 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 8 88249266 88249266 C T SNP CNBD1 ENST00000518476 human ensembl 70_37 +1 known missense c.697 p.H233Y 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 45 8 15.09 46 0 0.00 CNBD1 168975 genome.wustl.edu 37 8 88296944 88296944 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 88296944 88296944 G T SNP CNBD1 ENST00000518476 human ensembl 70_37 +1 known missense c.810 p.M270I 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 27 14 34.15 71 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34572030 34572030 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 34572030 34572030 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known silent c.534 p.P178 0.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 25 13 34.21 67 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34572654 34572654 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34572654 34572654 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.670 p.D224N 0.999 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 152 39 20.42 219 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34575384 34575384 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 34575384 34575384 G C SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.784 p.E262Q 0.824 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 50 9 15.25 52 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34599058 34599058 + Splice_Site SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34599058 34599058 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known splice_site c.1149-1 e10-1 1.000 - - - no_errors CNBD2 HGNC ENSG00000149646 31 23 42.59 39 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34599162 34599162 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34599162 34599162 G C SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 66 14 17.50 59 0 0.00 CNBD2 140894 genome.wustl.edu 37 20 34618306 34618306 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34618306 34618306 C G SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known silent c.1467 p.L489 0.116 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 28 16 36.36 37 0 0.00 CNDP1 84735 genome.wustl.edu 37 18 72223680 72223680 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 72223680 72223680 C T SNP CNDP1 ENST00000358821 human ensembl 70_37 +1 known silent c.132 p.L44 0.001 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 33 16 32.65 67 0 0.00 CNDP1 84735 genome.wustl.edu 37 18 72250867 72250867 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 72250867 72250867 C A SNP CNDP1 ENST00000358821 human ensembl 70_37 +1 known silent c.1380 p.I460 0.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 51 16 23.88 66 0 0.00 CNFN 84518 genome.wustl.edu 37 19 42891379 42891379 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 42891379 42891379 C G SNP CNFN ENST00000222032 human ensembl 70_37 -1 known missense c.265 p.D89H 1.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors CNFN HGNC ENSG00000105427 92 22 19.30 97 0 0.00 CNGA1 1259 genome.wustl.edu 37 4 47938939 47938939 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 47938939 47938939 G A SNP CNGA1 ENST00000402813 human ensembl 70_37 -1 known silent c.1779 p.L593 0.052 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 25 11 30.56 52 0 0.00 CNGA1 1259 genome.wustl.edu 37 4 47973119 47973120 + Splice_Site INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 47973119 47973120 - A INS CNGA1 ENST00000402813 human ensembl 70_37 -1 known splice_site_ins c.1-3_4 e1-2 0.002:0.019 - - - no_errors CNGA1 HGNC ENSG00000198515 18 3 14.29 37 0 0.00 CNGA2 1260 genome.wustl.edu 37 X 150912703 150912703 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 150912703 150912703 G T SNP CNGA2 ENST00000329903 human ensembl 70_37 +1 known missense c.1728 p.E576D 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 20 9 31.03 41 0 0.00 CNGA2 1260 genome.wustl.edu 37 X 150912869 150912869 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 150912869 150912869 C T SNP CNGA2 ENST00000329903 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 44 8 15.38 53 0 0.00 CNGA3 1261 genome.wustl.edu 37 2 98986443 98986443 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 98986443 98986443 C T SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 28 12 30.00 66 0 0.00 CNGA3 1261 genome.wustl.edu 37 2 98996712 98996712 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98996712 98996712 C G SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.290 p.S97C 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 51 9 14.75 43 0 0.00 CNGA3 1261 genome.wustl.edu 37 2 99006149 99006149 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 99006149 99006149 G A SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.478 p.V160M 0.893 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 37 28 43.08 61 0 0.00 CNGA4 1262 genome.wustl.edu 37 11 6261369 6261369 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 6261369 6261369 C A SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.345 p.F115L 0.975 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 19 11 35.48 64 0 0.00 CNGA4 1262 genome.wustl.edu 37 11 6261555 6261555 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6261555 6261555 T C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known silent c.531 p.F177 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 23 10 30.30 70 0 0.00 CNGA4 1262 genome.wustl.edu 37 11 6261670 6261670 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 6261670 6261670 C T SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 9 7 43.75 23 0 0.00 CNGA4 1262 genome.wustl.edu 37 11 6265351 6265351 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 6265351 6265351 G C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known silent c.1440 p.V480 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 26 8 23.53 20 0 0.00 CNGA4 1262 genome.wustl.edu 37 11 6265412 6265412 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6265412 6265412 G C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.1501 p.D501H 0.998 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 14 4 22.22 28 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57931755 57931755 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57931755 57931755 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.3040 p.D1014N 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 30 21 41.18 28 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57937756 57937756 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57937756 57937756 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.2764 p.E922K 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 48 13 21.31 65 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57949228 57949228 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 57949228 57949228 G C SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known silent c.2229 p.L743 0.992 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 25 8 24.24 35 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57951355 57951355 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57951355 57951355 G A SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known silent c.1983 p.F661 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 45 22 32.84 62 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57953058 57953058 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 57953058 57953058 G C SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1902 p.F634L 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 79 43 35.25 108 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57957253 57957253 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57957253 57957253 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1567 p.E523K 0.991 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 27 7 20.59 37 0 0.00 CNGB1 1258 genome.wustl.edu 37 16 57973451 57973451 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57973451 57973451 C G SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1255 p.E419Q 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 27 3 10.00 34 0 0.00 CNGB3 54714 genome.wustl.edu 37 8 87588313 87588313 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 87588313 87588313 C T SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known missense c.2149 p.E717K 0.389 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 36 25 40.98 71 0 0.00 CNGB3 54714 genome.wustl.edu 37 8 87590944 87590944 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 87590944 87590944 G A SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known silent c.2076 p.L692 0.216 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 80 31 27.93 83 0 0.00 CNGB3 54714 genome.wustl.edu 37 8 87591017 87591017 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 87591017 87591017 G T SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known missense c.2003 p.P668Q 0.053 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 28 4 12.50 44 0 0.00 CNIH 10175 genome.wustl.edu 37 14 54903140 54903140 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 54903140 54903140 C T SNP CNIH ENST00000216416 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH HGNC ENSG00000100528 81 21 20.59 102 0 0.00 CNIH3 149111 genome.wustl.edu 37 1 224872537 224872537 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 224872537 224872537 C G SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known missense c.190 p.L64V 0.999 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 66 35 34.65 40 0 0.00 CNIH3 149111 genome.wustl.edu 37 1 224918219 224918219 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 224918219 224918219 C T SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known missense c.254 p.A85V 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 29 29 50.00 102 0 0.00 CNIH3 149111 genome.wustl.edu 37 1 224918244 224918244 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 224918244 224918244 G T SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known silent c.279 p.L93 0.997 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 94 45 32.37 85 0 0.00 CNIH4 29097 genome.wustl.edu 37 1 224563512 224563512 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 224563512 224563512 G C SNP CNIH4 ENST00000465271 human ensembl 70_37 +1 known missense c.408 p.L136F 1.000 NULL pfam_Cornichon - no_errors CNIH4 HGNC ENSG00000143771 27 4 12.90 63 0 0.00 CNIH4 29097 genome.wustl.edu 37 1 224563706 224563706 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 224563706 224563706 G A SNP CNIH4 ENST00000468318 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CNIH4 HGNC ENSG00000143771 98 39 28.47 56 0 0.00 CNKSR1 10256 genome.wustl.edu 37 1 26513674 26513674 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 26513674 26513674 G T SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1345 p.G449C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 22 5 18.52 26 0 0.00 CNKSR1 10256 genome.wustl.edu 37 1 26513934 26513934 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 26513934 26513934 C A SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1436 p.P479H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 98 60 37.50 55 0 0.00 CNKSR1 10256 genome.wustl.edu 37 1 26513963 26513963 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 26513963 26513963 G A SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1465 p.D489N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 54 15 21.74 45 0 0.00 CNKSR1 10256 genome.wustl.edu 37 1 26515969 26515969 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 26515969 26515969 C G SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.2093 p.S698C 0.005 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 19 29 60.42 38 0 0.00 CNKSR2 22866 genome.wustl.edu 37 X 21444770 21444770 + Missense_Mutation SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 21444770 21444770 T C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.220 p.C74R 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 98 21 17.65 69 0 0.00 CNKSR2 22866 genome.wustl.edu 37 X 21581385 21581385 + Missense_Mutation SNP G G C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 21581385 21581385 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.1423 p.E475Q 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 48 9 15.79 48 0 0.00 CNKSR2 22866 genome.wustl.edu 37 X 21613112 21613112 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 21613112 21613112 C A SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.1851 p.F617L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 28 15 34.88 71 0 0.00 CNKSR2 22866 genome.wustl.edu 37 X 21627323 21627323 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 21627323 21627323 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.2280 p.K760N 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 17 10 37.04 37 0 0.00 CNKSR2 22866 genome.wustl.edu 37 X 21670430 21670430 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 21670430 21670430 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.2896 p.E966Q 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 84 29 25.66 120 0 0.00 CNKSR3 154043 genome.wustl.edu 37 6 154727587 154727587 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 154727587 154727587 C T SNP CNKSR3 ENST00000367213 human ensembl 70_37 -1 known silent c.1569 p.G523 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 62 26 29.21 90 0 0.00 CNKSR3 154043 genome.wustl.edu 37 6 154732090 154732090 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 154732090 154732090 C T SNP CNKSR3 ENST00000367213 human ensembl 70_37 -1 known missense c.1257 p.M419I 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 9 6 40.00 12 0 0.00 CNN2 1265 genome.wustl.edu 37 19 1032654 1032654 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 1032654 1032654 A G SNP CNN2 ENST00000263097 human ensembl 70_37 +1 known missense c.349 p.M117V 0.988 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 34 4 10.53 41 0 0.00 CNN2 1265 genome.wustl.edu 37 19 1037782 1037782 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1037782 1037782 C G SNP CNN2 ENST00000263097 human ensembl 70_37 +1 known silent c.813 p.P271 1.000 prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 40 22 35.48 55 0 0.00 CNN3 1266 genome.wustl.edu 37 1 95363403 95363403 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 95363403 95363403 G A SNP CNN3 ENST00000370206 human ensembl 70_37 -1 known silent c.885 p.I295 1.000 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 75 52 40.94 132 0 0.00 CNN3 1266 genome.wustl.edu 37 1 95367349 95367349 + RNA SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 95367349 95367349 G T SNP CNN3 ENST00000461018 human ensembl 70_37 -1 known rna NULL NULL 0.923 - - - no_errors CNN3 HGNC ENSG00000117519 20 3 13.04 25 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101089223 101089223 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 10 101089223 101089223 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known missense c.79 p.L27F 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 8 4 33.33 16 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101090206 101090206 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 101090206 101090206 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1062 p.I354 1.000 pfam_DUF21 pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 8 8 50.00 21 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101090572 101090572 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 101090572 101090572 G A SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1428 p.V476 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 37 31 45.59 39 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101090617 101090617 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 101090617 101090617 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1473 p.D491 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 29 11 27.50 28 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101090617 101090617 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 101090617 101090617 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1473 p.D491 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 52 22 29.73 91 0 0.00 CNNM1 26507 genome.wustl.edu 37 10 101090702 101090702 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 101090702 101090702 G C SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known missense c.1558 p.E520Q 1.000 pfam_Cysta_beta_synth_core pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 33 4 10.81 22 0 0.00 CNNM2 54805 genome.wustl.edu 37 10 104679239 104679239 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104679239 104679239 C G SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known silent c.1002 p.L334 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 16 3 15.79 53 0 0.00 CNNM2 54805 genome.wustl.edu 37 10 104679252 104679252 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 104679252 104679252 G A SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.1015 p.G339S 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 3 41 93.18 65 0 0.00 CNNM2 54805 genome.wustl.edu 37 10 104679252 104679252 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 104679252 104679252 G A SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.1015 p.G339S 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 5 30 85.71 21 0 0.00 CNNM2 54805 genome.wustl.edu 37 10 104679638 104679638 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 104679638 104679638 C G SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.1401 p.F467L 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 30 23 43.40 39 0 0.00 CNNM2 54805 genome.wustl.edu 37 10 104835960 104835960 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 104835960 104835960 C T SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.2354 p.S785F 0.798 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 39 12 23.53 61 0 0.00 CNNM4 26504 genome.wustl.edu 37 2 97427598 97427598 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 97427598 97427598 C T SNP CNNM4 ENST00000377075 human ensembl 70_37 +1 known nonsense c.862 p.Q288* 1.000 pfam_DUF21 pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 49 22 30.99 31 0 0.00 CNNM4 26504 genome.wustl.edu 37 2 97475114 97475114 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 97475114 97475114 C G SNP CNNM4 ENST00000540067 human ensembl 70_37 +1 known nonsense c.737 p.S246* 1.000 NULL superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 28 9 24.32 23 0 0.00 CNNM4 26504 genome.wustl.edu 37 2 97475253 97475253 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 97475253 97475253 G A SNP CNNM4 ENST00000377075 human ensembl 70_37 +1 known silent c.2327 p.*776 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 19 7 26.92 26 0 0.00 CNOT1 23019 genome.wustl.edu 37 16 58577399 58577399 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 58577399 58577399 G A SNP CNOT1 ENST00000441024 human ensembl 70_37 -1 known missense c.4546 p.H1516Y 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 13 2 13.33 14 0 0.00 CNOT1 23019 genome.wustl.edu 37 16 58581544 58581544 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 58581544 58581544 G A SNP CNOT1 ENST00000317147 human ensembl 70_37 -1 known missense c.3565 p.R1189C 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 42 11 20.75 32 0 0.00 CNOT1 23019 genome.wustl.edu 37 16 58622718 58622718 + Silent SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 16 58622718 58622718 G C SNP CNOT1 ENST00000317147 human ensembl 70_37 -1 known silent c.195 p.G65 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 37 34 47.89 60 0 0.00 CNOT10 25904 genome.wustl.edu 37 3 32776386 32776386 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 32776386 32776386 G C SNP CNOT10 ENST00000454516 human ensembl 70_37 +1 known missense c.1612 p.D538H 1.000 NULL pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 213 55 20.52 306 0 0.00 CNOT10 25904 genome.wustl.edu 37 3 32801030 32801030 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 32801030 32801030 T G SNP CNOT10 ENST00000454516 human ensembl 70_37 +1 known missense c.1856 p.L619R 1.000 NULL pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 72 12 14.29 145 0 0.00 CNOT2 4848 genome.wustl.edu 37 12 70729314 70729314 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 70729314 70729314 T G SNP CNOT2 ENST00000229195 human ensembl 70_37 +1 known missense c.746 p.I249R 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 20 9 31.03 53 0 0.00 CNOT2 4848 genome.wustl.edu 37 12 70729334 70729334 + Missense_Mutation SNP G G T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 12 70729334 70729334 G T SNP CNOT2 ENST00000229195 human ensembl 70_37 +1 known missense c.766 p.A256S 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 28 8 22.22 37 0 0.00 CNOT3 4849 genome.wustl.edu 37 19 54646905 54646905 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54646905 54646905 G C SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 32 13 28.89 47 0 0.00 CNOT3 4849 genome.wustl.edu 37 19 54647772 54647772 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54647772 54647772 G A SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.289 p.E97K 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 48 20 29.41 67 0 0.00 CNOT3 4849 genome.wustl.edu 37 19 54649372 54649372 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 54649372 54649372 G C SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.522 p.E174D 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 29 4 12.12 35 0 0.00 CNOT6 57472 genome.wustl.edu 37 5 179996326 179996326 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179996326 179996326 C A SNP CNOT6 ENST00000261951 human ensembl 70_37 +1 known missense c.1244 p.S415Y 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 18 14 43.75 44 0 0.00 CNOT6L 246175 genome.wustl.edu 37 4 78641593 78641593 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 78641593 78641593 G A SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.1660 p.R554W 0.997 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 78 38 32.76 71 0 0.00 CNOT6L 246175 genome.wustl.edu 37 4 78663337 78663337 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 78663337 78663337 C G SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.830 p.R277T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 29 16 35.56 25 0 0.00 CNOT6L 246175 genome.wustl.edu 37 4 78695822 78695822 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 78695822 78695822 G A SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.176 p.T59I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 21 3 12.50 91 0 0.00 CNOT8 9337 genome.wustl.edu 37 5 154238369 154238369 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 154238369 154238369 G A SNP CNOT8 ENST00000518782 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNOT8 HGNC ENSG00000155508 46 28 37.84 23 0 0.00 CNOT8 9337 genome.wustl.edu 37 5 154242942 154242943 + Frame_Shift_Ins INS - - TTATA TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 154242942 154242943 - TTATA INS CNOT8 ENST00000285896 human ensembl 70_37 +1 known frame_shift_ins c.104_105 p.A38fs 1.000:1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 29 12 29.27 23 0 0.00 CNOT8 9337 genome.wustl.edu 37 5 154252151 154252151 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 154252151 154252151 G A SNP CNOT8 ENST00000285896 human ensembl 70_37 +1 known silent c.669 p.R223 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 98 18 15.52 116 0 0.00 CNOT8 9337 genome.wustl.edu 37 5 154252202 154252202 + Missense_Mutation SNP G G C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 154252202 154252202 G C SNP CNOT8 ENST00000285896 human ensembl 70_37 +1 known missense c.720 p.R240S 1.000 superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 58 8 12.12 70 0 0.00 CNP 1267 genome.wustl.edu 37 17 40120646 40120646 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 40120646 40120646 C T SNP CNP ENST00000393892 human ensembl 70_37 +1 known silent c.564 p.L188 0.984 pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 25 21 45.65 69 0 0.00 CNPY3 10695 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 70_37 +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 24 3 11.11 35 0 0.00 CNPY3 10695 genome.wustl.edu 37 6 42897393 42897393 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 42897393 42897393 G A SNP CNPY3 ENST00000372836 human ensembl 70_37 +1 known missense c.85 p.E29K 0.977 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 18 4 18.18 20 0 0.00 CNPY4 245812 genome.wustl.edu 37 7 99722592 99722592 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 99722592 99722592 C T SNP CNPY4 ENST00000480692 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNPY4 HGNC ENSG00000166997 9 4 30.77 16 0 0.00 CNPY4 245812 genome.wustl.edu 37 7 99722651 99722651 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 99722651 99722651 C T SNP CNPY4 ENST00000480692 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors CNPY4 HGNC ENSG00000166997 7 4 36.36 9 0 0.00 CNR1 1268 genome.wustl.edu 37 6 88853991 88853991 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 88853991 88853991 C T SNP CNR1 ENST00000369499 human ensembl 70_37 -1 known missense c.1003 p.A335T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 19 7 26.92 10 0 0.00 CNR2 1269 genome.wustl.edu 37 1 24201626 24201626 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 24201626 24201626 G A SNP CNR2 ENST00000374472 human ensembl 70_37 -1 known missense c.482 p.S161L 0.756 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC ENSG00000188822 37 12 24.49 34 0 0.00 CNTD1 124817 genome.wustl.edu 37 17 40951157 40951157 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40951157 40951157 G A SNP CNTD1 ENST00000588408 human ensembl 70_37 +1 known silent c.72 p.T24 0.790 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 23 14 37.84 26 0 0.00 CNTD1 124817 genome.wustl.edu 37 17 40956316 40956316 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40956316 40956316 C T SNP CNTD1 ENST00000588408 human ensembl 70_37 +1 known nonsense c.319 p.Q107* 0.004 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 43 20 31.75 48 0 0.00 CNTD1 124817 genome.wustl.edu 37 17 40961915 40961915 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 40961915 40961915 G C SNP CNTD1 ENST00000315066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNTD1 HGNC ENSG00000176563 23 30 56.60 22 0 0.00 CNTD1 124817 genome.wustl.edu 37 17 40962557 40962557 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 40962557 40962557 G C SNP CNTD1 ENST00000315066 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors CNTD1 HGNC ENSG00000176563 42 41 49.40 32 0 0.00 CNTD2 79935 genome.wustl.edu 37 19 40732342 40732342 + Silent SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 40732342 40732342 C G SNP CNTD2 ENST00000430325 human ensembl 70_37 -1 known silent c.207 p.L69 0.568 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 19 4 17.39 18 0 0.00 CNTF 1270 genome.wustl.edu 37 11 58391849 58391849 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 58391849 58391849 G C SNP CNTF ENST00000361987 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 46 14 23.33 69 0 0.00 CNTF 1270 genome.wustl.edu 37 11 58391931 58391931 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58391931 58391931 C A SNP CNTF ENST00000361987 human ensembl 70_37 +1 known missense c.539 p.S180Y 0.575 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 12 4 25.00 23 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17236576 17236576 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 9 17236576 17236576 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.839 p.A280V 0.932 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 10 5 31.25 9 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17273770 17273770 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 17273770 17273770 G C SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.889 p.E297Q 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 19 7 26.92 37 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17309221 17309221 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 17309221 17309221 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known nonsense c.1312 p.Q438* 0.238 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 14 9 39.13 18 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17394799 17394799 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 17394799 17394799 G A SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.2347 p.A783T 0.290 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 41 13 24.07 48 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17487056 17487056 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 17487056 17487056 G A SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.4111 p.E1371K 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 23 23 50.00 70 0 0.00 CNTLN 54875 genome.wustl.edu 37 9 17502646 17502646 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 17502646 17502646 G C SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.4217 p.R1406T 0.555 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 10 9 47.37 20 0 0.00 CNTN1 1272 genome.wustl.edu 37 12 41316209 41316209 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 12 41316209 41316209 G A SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.379 p.E127K 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 31 21 40.38 26 0 0.00 CNTN1 1272 genome.wustl.edu 37 12 41327645 41327645 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 41327645 41327645 G A SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.950 p.G317E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 12 4 25.00 23 0 0.00 CNTN1 1272 genome.wustl.edu 37 12 41337930 41337930 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 41337930 41337930 C T SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known silent c.1641 p.I547 0.296 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 79 22 21.57 94 0 0.00 CNTN1 1272 genome.wustl.edu 37 12 41374753 41374753 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 41374753 41374753 G T SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.1847 p.R616I 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 10 10 50.00 29 0 0.00 CNTN1 1272 genome.wustl.edu 37 12 41419115 41419115 + Missense_Mutation SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 41419115 41419115 T C SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.2687 p.I896T 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 9 6 40.00 23 0 0.00 CNTN2 6900 genome.wustl.edu 37 1 205033553 205033553 + Silent SNP C C G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 205033553 205033553 C G SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known silent c.1344 p.A448 0.008 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 11 3 21.43 37 0 0.00 CNTN2 6900 genome.wustl.edu 37 1 205039053 205039053 + Silent SNP C C A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 205039053 205039053 C A SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known silent c.2295 p.G765 0.847 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 122 16 11.59 119 0 0.00 CNTN2 6900 genome.wustl.edu 37 1 205042274 205042274 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 205042274 205042274 G A SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known missense c.2923 p.E975K 0.987 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 15 21 58.33 39 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74315737 74315737 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 74315737 74315737 C T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.2881 p.E961K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 65 32 32.99 86 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74316501 74316503 + In_Frame_Del DEL AAC AAC - TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 74316501 74316503 AAC - DEL CNTN3 ENST00000263665 human ensembl 70_37 -1 known in_frame_del c.2733_2731 p.V911in_frame_del 0.971:0.997:0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 39 8 17.02 62 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74344283 74344283 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 74344283 74344283 G T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.2506 p.L836M 0.862 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 21 3 12.50 62 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74535632 74535632 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 74535632 74535632 G T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.333 p.S111R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 26 24 48.00 52 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74535633 74535633 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 74535633 74535633 C T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.332 p.S111N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 19 17 47.22 55 0 0.00 CNTN3 5067 genome.wustl.edu 37 3 74535723 74535723 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 74535723 74535723 C G SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.242 p.G81A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 65 11 14.47 144 0 0.00 CNTN4 152330 genome.wustl.edu 37 3 3072659 3072659 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 3072659 3072659 G T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.1783 p.G595C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 19 4 17.39 55 0 0.00 CNTN4 152330 genome.wustl.edu 37 3 3080685 3080685 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 3080685 3080685 G A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2161 p.E721K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 34 7 16.67 22 0 0.00 CNTN4 152330 genome.wustl.edu 37 3 3081733 3081733 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 3081733 3081733 G A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 28 20 41.67 24 0 0.00 CNTN4 152330 genome.wustl.edu 37 3 3084769 3084769 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 3084769 3084769 C T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2620 p.H874Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 17 9 34.62 18 0 0.00 CNTN4 152330 genome.wustl.edu 37 3 3095557 3095557 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 3095557 3095557 C T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2878 p.L960F 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 37 18 32.73 60 0 0.00 CNTN4-AS2 100873976 genome.wustl.edu 37 3 2185855 2185855 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 3 2185855 2185855 C T SNP CNTN4-AS2 ENST00000447256 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CNTN4-AS2 HGNC ENSG00000227588 21 16 43.24 23 0 0.00 CNTN5 53942 genome.wustl.edu 37 11 100126641 100126641 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 100126641 100126641 G A SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.2155 p.V719I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC ENSG00000149972 13 3 18.75 51 0 0.00 CNTN5 53942 genome.wustl.edu 37 11 99690326 99690326 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 99690326 99690326 G C SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.107 p.R36T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC ENSG00000149972 7 24 77.42 42 0 0.00 CNTN5 53942 genome.wustl.edu 37 11 99715931 99715931 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 99715931 99715931 C T SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known nonsense c.514 p.Q172* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC ENSG00000149972 18 12 40.00 47 0 0.00 CNTN5 53942 genome.wustl.edu 37 11 99827718 99827718 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 99827718 99827718 C G SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.854 p.T285R 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC ENSG00000149972 6 5 45.45 19 0 0.00 CNTN6 27255 genome.wustl.edu 37 3 1369193 1369193 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 1369193 1369193 C T SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.1136 p.S379L 0.982 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 14 8 36.36 19 0 0.00 CNTN6 27255 genome.wustl.edu 37 3 1415661 1415661 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 1415661 1415661 C T SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.1999 p.P667S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 19 43 69.35 134 0 0.00 CNTN6 27255 genome.wustl.edu 37 3 1424826 1424826 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 1424826 1424826 G C SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known silent c.2367 p.L789 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 15 49 76.56 88 0 0.00 CNTN6 27255 genome.wustl.edu 37 3 1424984 1424984 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 1424984 1424984 A C SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.2409 p.Q803H 0.859 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 49 35 41.67 118 0 0.00 CNTN6 27255 genome.wustl.edu 37 3 1444154 1444154 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 1444154 1444154 G A SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known silent c.2970 p.R990 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 16 4 20.00 25 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40837369 40837369 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 40837369 40837369 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 63 28 30.43 74 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40839792 40839792 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 40839792 40839792 G T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.1099 p.G367C 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 35 4 10.26 80 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40843185 40843185 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 40843185 40843185 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.2090 p.R697Q 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 18 14 43.75 22 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40844536 40844536 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 40844536 40844536 C T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known silent c.2550 p.F850 0.856 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 48 16 25.00 41 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40847810 40847810 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40847810 40847810 C T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known silent c.3264 p.F1088 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 53 39 42.39 62 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40849680 40849680 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40849680 40849680 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.3677 p.R1226Q 0.998 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 35 13 27.08 41 0 0.00 CNTNAP1 8506 genome.wustl.edu 37 17 40850830 40850830 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 40850830 40850830 C G SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.4057 p.P1353A 0.174 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 27 13 32.50 60 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 146805344 146805344 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 146805344 146805344 C T SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.656 p.S219F 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 26 10 27.78 41 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 146818156 146818156 + Silent SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 146818156 146818156 C A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known silent c.840 p.V280 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 15 8 34.78 30 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 146825844 146825844 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 146825844 146825844 C G SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.999 p.F333L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 39 16 29.09 53 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 146829491 146829491 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 146829491 146829491 G T SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.1238 p.S413I 0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 27 4 12.90 53 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 146829596 146829596 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 146829596 146829596 C G SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.1343 p.S448C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 30 28 48.28 70 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 147092868 147092868 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 147092868 147092868 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.1666 p.D556N 1.000 pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 33 10 23.26 22 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 147844582 147844582 + Splice_Site SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 147844582 147844582 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known splice_site c.2555-1 e17-1 1.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 21 5 19.23 41 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 147844759 147844759 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 147844759 147844759 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.2731 p.E911K 0.982 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 19 6 24.00 36 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 147869395 147869395 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 147869395 147869395 G C SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known silent c.2835 p.V945 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 74 30 28.85 94 0 0.00 CNTNAP2 26047 genome.wustl.edu 37 7 147964216 147964216 + Missense_Mutation SNP T T C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 147964216 147964216 T C SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.3473 p.I1158T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 34 8 19.05 30 0 0.00 CNTNAP3 79937 genome.wustl.edu 37 9 39149948 39149948 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 39149948 39149948 C T SNP CNTNAP3 ENST00000297668 human ensembl 70_37 -1 known missense c.1504 p.G502R 0.229 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 121 39 24.38 175 0 0.00 CNTNAP3 79937 genome.wustl.edu 37 9 39176011 39176011 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 39176011 39176011 G A SNP CNTNAP3 ENST00000297668 human ensembl 70_37 -1 known missense c.1006 p.L336F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 65 16 19.75 59 0 0.00 CNTNAP3B 728577 genome.wustl.edu 37 9 43815872 43815872 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 43815872 43815872 C A SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known missense c.626 p.S209Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 22 13 37.14 39 0 0.00 CNTNAP3B 728577 genome.wustl.edu 37 9 43818172 43818172 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 43818172 43818172 G C SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known missense c.1059 p.Q353H 1.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 61 13 17.57 89 0 0.00 CNTNAP3B 728577 genome.wustl.edu 37 9 43875988 43875988 + Splice_Site SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 43875988 43875988 G C SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known splice_site c.2081-1 e14-1 1.000 - - - no_errors CNTNAP3B HGNC ENSG00000154529 44 33 42.86 75 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76311603 76311604 + Splice_Site INS - - C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 76311603 76311604 - C INS CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known splice_site_ins c.42+1_42+1 e1+1 0.944:0.963 - - - no_errors CNTNAP4 HGNC ENSG00000152910 25 18 41.86 94 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76481986 76481986 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 76481986 76481986 G T SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.613 p.D205Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 7 12 63.16 29 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76482704 76482704 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 76482704 76482704 C T SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known silent c.780 p.L260 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 47 53 53.00 27 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76486529 76486529 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 76486529 76486529 G A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.1193 p.R398Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 25 4 13.79 48 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76528926 76528926 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 76528926 76528926 C A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.2197 p.Q733K 0.848 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 169 27 13.78 166 0 0.00 CNTNAP4 85445 genome.wustl.edu 37 16 76572100 76572100 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 76572100 76572100 C A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.3080 p.A1027D 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 36 8 18.18 35 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 124999880 124999880 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 124999880 124999880 C T SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.291 p.Y97 0.874 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 13 30 69.77 55 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125175029 125175029 + Frame_Shift_Del DEL G G - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 125175029 125175029 G - DEL CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known frame_shift_del c.391 p.G131fs 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 38 13 25.49 38 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125232323 125232323 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 125232323 125232323 T G SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.926 p.F309C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 16 16 50.00 59 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125281921 125281921 + Missense_Mutation SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 125281921 125281921 A C SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.1366 p.N456H 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 23 23 50.00 30 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125281944 125281944 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 125281944 125281944 G A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.1389 p.T463 0.781 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 34 11 24.44 54 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125281973 125281973 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 125281973 125281973 C A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.1418 p.P473Q 0.423 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 62 15 19.48 72 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125671718 125671718 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 125671718 125671718 G A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.3774 p.M1258I 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 29 10 25.64 41 0 0.00 CNTNAP5 129684 genome.wustl.edu 37 2 125671805 125671805 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 125671805 125671805 C T SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.3861 p.F1287 0.999 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 56 21 26.92 57 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123858773 123858773 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 123858773 123858773 C T SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.553 p.P185S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 44 15 25.42 55 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123858773 123858773 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 123858773 123858773 C T SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.553 p.P185S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 53 9 14.52 69 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123877440 123877440 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 9 123877440 123877440 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.1417 p.E473K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 16 6 27.27 34 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123888128 123888128 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 123888128 123888128 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.1939 p.E647K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 53 26 32.91 39 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123888142 123888142 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 123888142 123888142 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known silent c.1953 p.Q651 0.960 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 52 26 33.33 45 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123907225 123907225 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 123907225 123907225 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known silent c.3156 p.Q1052 0.854 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 29 12 29.27 44 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123914769 123914769 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123914769 123914769 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.3970 p.E1324K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 19 13 40.62 27 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123914931 123914931 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 123914931 123914931 G C SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4132 p.E1378Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 11 9 45.00 21 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123917084 123917084 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 123917084 123917084 G C SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4258 p.E1420Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 26 22 45.83 33 0 0.00 CNTRL 11064 genome.wustl.edu 37 9 123917162 123917162 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 123917162 123917162 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4336 p.E1446K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 129 48 27.12 207 0 0.00 COA3 28958 genome.wustl.edu 37 17 40950669 40950669 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40950669 40950669 C G SNP COA3 ENST00000328434 human ensembl 70_37 -1 known missense c.31 p.D11H 0.004 pfam_Coiled-coil_56 pfam_Coiled-coil_56 - no_errors COA3 HGNC ENSG00000183978 23 33 58.93 46 0 0.00 COA4 51287 genome.wustl.edu 37 11 73584276 73584276 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 73584276 73584276 C T SNP COA4 ENST00000541455 human ensembl 70_37 -1 known missense c.175 p.D59N 1.000 NULL NULL - no_errors COA4 HGNC ENSG00000181924 86 33 27.73 100 0 0.00 COA5 493753 genome.wustl.edu 37 2 99220620 99220620 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 99220620 99220620 C T SNP COA5 ENST00000328709 human ensembl 70_37 -1 known missense c.134 p.G45E 0.994 pfam_Cyt_c_oxidase_assmbl_Pet191 pfam_Cyt_c_oxidase_assmbl_Pet191 - no_errors COA5 HGNC ENSG00000183513 32 16 33.33 38 0 0.00 COASY 80347 genome.wustl.edu 37 17 40714664 40714664 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 40714664 40714664 C T SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.111 p.L37 1.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 44 27 38.03 85 0 0.00 COASY 80347 genome.wustl.edu 37 17 40714701 40714701 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 40714701 40714701 C G SNP COASY ENST00000590958 human ensembl 70_37 +1 known missense c.148 p.R50G 0.999 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 55 17 23.61 64 0 0.00 COASY 80347 genome.wustl.edu 37 17 40715126 40715126 + Silent SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 40715126 40715126 C A SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.573 p.P191 0.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 52 6 10.34 33 0 0.00 COASY 80347 genome.wustl.edu 37 17 40716556 40716556 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 40716556 40716556 C T SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.1095 p.F365 0.550 pfam_Cytidylyltransf pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 13 30 69.77 40 0 0.00 COBL 23242 genome.wustl.edu 37 7 51098509 51098509 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 51098509 51098509 C T SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.1750 p.E584K 1.000 NULL pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 39 28 41.79 45 0 0.00 COBL 23242 genome.wustl.edu 37 7 51240194 51240194 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 51240194 51240194 C T SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.817 p.D273N 0.010 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 12 21 63.64 26 0 0.00 COBL 23242 genome.wustl.edu 37 7 51258745 51258745 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 51258745 51258745 G A SNP COBL ENST00000395542 human ensembl 70_37 -1 known missense c.487 p.R163W 0.018 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 18 3 14.29 32 0 0.00 COBL 23242 genome.wustl.edu 37 7 51258767 51258768 + Frame_Shift_Del DEL CA CA - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 51258767 51258768 CA - DEL COBL ENST00000395542 human ensembl 70_37 -1 known frame_shift_del c.465_464 p.V155fs 1.000:1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 16 10 38.46 29 0 0.00 COBLL1 22837 genome.wustl.edu 37 2 165550784 165550784 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 165550784 165550784 C G SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.3433 p.D1145H 0.578 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 44 8 15.38 42 0 0.00 COBLL1 22837 genome.wustl.edu 37 2 165561498 165561498 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 165561498 165561498 G A SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.1312 p.P438S 0.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 31 15 32.61 71 0 0.00 COBLL1 22837 genome.wustl.edu 37 2 165578671 165578671 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 165578671 165578671 G A SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known nonsense c.1108 p.Q370* 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 80 25 23.81 123 0 0.00 COBLL1 22837 genome.wustl.edu 37 2 165586456 165586456 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 165586456 165586456 C T SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.559 p.D187N 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 111 20 15.27 142 0 0.00 COBLL1 22837 genome.wustl.edu 37 2 165586569 165586569 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 165586569 165586569 G C SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known nonsense c.446 p.S149* 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 74 38 33.93 131 0 0.00 COCH 1690 genome.wustl.edu 37 14 31355293 31355293 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 31355293 31355293 G C SNP COCH ENST00000216361 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 65 24 26.97 71 0 0.00 COCH 1690 genome.wustl.edu 37 14 31358935 31358935 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 31358935 31358935 G T SNP COCH ENST00000216361 human ensembl 70_37 +1 known nonsense c.1591 p.E531* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 18 21 52.50 70 0 0.00 COCH 1690 genome.wustl.edu 37 14 31358950 31358950 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 31358950 31358950 G C SNP COCH ENST00000216361 human ensembl 70_37 +1 known missense c.1606 p.D536H 0.969 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 66 24 26.67 82 0 0.00 COG1 9382 genome.wustl.edu 37 17 71192823 71192823 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 71192823 71192823 C T SNP COG1 ENST00000299886 human ensembl 70_37 +1 known nonsense c.493 p.R165* 0.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 11 5 29.41 35 0 0.00 COG1 9382 genome.wustl.edu 37 17 71193055 71193055 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 71193055 71193055 G A SNP COG1 ENST00000299886 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 38 7 15.56 51 0 0.00 COG1 9382 genome.wustl.edu 37 17 71193179 71193179 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 71193179 71193179 G A SNP COG1 ENST00000299886 human ensembl 70_37 +1 known missense c.701 p.R234K 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 24 14 35.90 52 0 0.00 COG2 22796 genome.wustl.edu 37 1 230804495 230804495 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 230804495 230804495 A G SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.559 p.S187G 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 138 23 14.29 228 1 0.44 COG2 22796 genome.wustl.edu 37 1 230819156 230819157 + RNA DEL AA AA - TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 230819156 230819157 AA - DEL COG2 ENST00000494371 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COG2 HGNC ENSG00000135775 13 3 18.75 9 0 0.00 COG2 22796 genome.wustl.edu 37 1 230823905 230823905 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 230823905 230823905 G C SNP COG2 ENST00000490900 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors COG2 HGNC ENSG00000135775 20 17 45.95 43 0 0.00 COG2 22796 genome.wustl.edu 37 1 230825830 230825830 + Missense_Mutation SNP A A T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 230825830 230825830 A T SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.1865 p.H622L 0.039 pfam_COG_complex_COG2_C pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 52 17 24.64 52 0 0.00 COG2 22796 genome.wustl.edu 37 1 230825835 230825835 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 230825835 230825835 G A SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.1870 p.D624N 0.136 pfam_COG_complex_COG2_C pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 33 7 17.50 36 0 0.00 COG2 22796 genome.wustl.edu 37 1 230827303 230827303 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 230827303 230827303 G A SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.2108 p.G703E 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 30 7 18.42 37 0 0.00 COG3 83548 genome.wustl.edu 37 13 46070407 46070407 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 46070407 46070407 C T SNP COG3 ENST00000349995 human ensembl 70_37 +1 known missense c.1448 p.P483L 1.000 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 31 33 51.56 24 0 0.00 COG4 25839 genome.wustl.edu 37 16 70515274 70515274 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70515274 70515274 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.2223 p.L741 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 40 25 38.46 70 0 0.00 COG4 25839 genome.wustl.edu 37 16 70516653 70516653 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 70516653 70516653 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.1899 p.S633 0.343 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 33 12 26.67 63 0 0.00 COG4 25839 genome.wustl.edu 37 16 70530299 70530299 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 70530299 70530299 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known missense c.1517 p.P506L 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 54 24 30.77 79 0 0.00 COG4 25839 genome.wustl.edu 37 16 70530310 70530310 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 70530310 70530310 C T SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.1506 p.R502 0.987 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 19 38 66.67 62 0 0.00 COG4 25839 genome.wustl.edu 37 16 70542705 70542705 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 70542705 70542705 C T SNP COG4 ENST00000393612 human ensembl 70_37 -1 known silent c.1013 p.*338 0.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 32 8 20.00 42 0 0.00 COG4 25839 genome.wustl.edu 37 16 70557335 70557335 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70557335 70557335 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known missense c.112 p.R38C 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 16 43 71.67 64 0 0.00 COG5 10466 genome.wustl.edu 37 7 106851011 106851011 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 106851011 106851011 C G SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.2428 p.D810H 1.000 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC ENSG00000164597 27 28 50.91 32 0 0.00 COG5 10466 genome.wustl.edu 37 7 107013082 107013082 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 107013082 107013082 C T SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.886 p.D296N 1.000 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC ENSG00000164597 20 8 28.57 40 0 0.00 COG5 10466 genome.wustl.edu 37 7 107167783 107167783 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 7 107167783 107167783 C T SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.530 p.R177Q 1.000 pfam_COG_su5 pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC ENSG00000164597 6 6 50.00 14 0 0.00 COG8 84342 genome.wustl.edu 37 16 69354271 69354271 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69354271 69354271 G C SNP COG8 ENST00000564419 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors COG8 HGNC ENSG00000213380 28 15 34.09 40 0 0.00 COIL 8161 genome.wustl.edu 37 17 55027347 55027347 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 55027347 55027347 C T SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.1256 p.R419Q 0.983 NULL NULL - no_errors COIL HGNC ENSG00000121058 55 16 22.54 57 0 0.00 COIL 8161 genome.wustl.edu 37 17 55027619 55027619 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 55027619 55027619 C G SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.984 p.L328F 0.000 NULL NULL - no_errors COIL HGNC ENSG00000121058 14 12 46.15 22 0 0.00 COIL 8161 genome.wustl.edu 37 17 55028230 55028230 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 55028230 55028230 C G SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.373 p.D125H 0.002 NULL NULL - no_errors COIL HGNC ENSG00000121058 44 23 34.33 79 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103343636 103343636 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 103343636 103343636 T G SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.5396 p.D1799A 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 33 15 31.25 36 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103348829 103348829 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 103348829 103348829 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.4933 p.D1645N 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 28 18 39.13 45 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103352442 103352442 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 103352442 103352442 C A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.4815 p.M1605I 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 22 12 34.29 63 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103364276 103364276 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 103364276 103364276 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known silent c.4230 p.Q1410 0.999 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 111 53 32.32 152 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103379961 103379961 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 103379961 103379961 C A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.3961 p.G1321C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 69 28 28.57 162 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103440391 103440391 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 103440391 103440391 G T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.2839 p.P947T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 20 3 13.04 19 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103471840 103471840 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 103471840 103471840 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1751 p.P584L 0.782 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 31 20 39.22 37 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103474021 103474021 + Nonsense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 103474021 103474021 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known nonsense c.1717 p.Q573* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 34 4 10.53 37 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103474021 103474021 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 103474021 103474021 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known nonsense c.1717 p.Q573* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 172 57 24.78 172 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103474059 103474059 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 103474059 103474059 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1679 p.S560L 0.865 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 195 65 24.90 189 1 0.53 COL11A1 1301 genome.wustl.edu 37 1 103480147 103480147 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 103480147 103480147 G T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1528 p.R510S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 30 4 11.76 34 0 0.00 COL11A1 1301 genome.wustl.edu 37 1 103488543 103488543 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 103488543 103488543 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1036 p.V346I 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 34 8 19.05 25 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33141825 33141825 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 33141825 33141825 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.2492 p.S831L 0.663 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 88 21 19.27 103 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33148097 33148097 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 33148097 33148097 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known nonsense c.1297 p.R433* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 59 50 45.87 31 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33148097 33148097 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 33148097 33148097 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known nonsense c.1297 p.R433* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 72 43 37.39 126 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33151975 33151975 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 33151975 33151975 C G SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.1066 p.E356Q 0.995 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 15 10 40.00 35 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33154583 33154583 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 33154583 33154583 C T SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.619 p.E207K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 14 68 82.93 73 0 0.00 COL11A2 1302 genome.wustl.edu 37 6 33159972 33159972 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33159972 33159972 G C SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.46 p.L16V 0.954 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 5 2 28.57 14 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75812365 75812365 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 75812365 75812365 T G SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.8363 p.Q2788P 1.000 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 38 14 26.92 29 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75813485 75813485 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 75813485 75813485 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known silent c.8307 p.I2769 0.993 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 18 5 21.74 35 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75816178 75816178 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 75816178 75816178 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.8135 p.P2712L 0.972 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 35 4 10.26 44 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75825740 75825740 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 75825740 75825740 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.7553 p.S2518L 1.000 superfamily_ConA-like_lec_gl_sf pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 7 8 53.33 47 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75843579 75843579 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 6 75843579 75843579 C T SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.5659 p.E1887K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 33 10 23.26 39 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75865553 75865553 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 75865553 75865553 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.3268 p.P1090S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 34 66 66.00 103 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75884903 75884903 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 75884903 75884903 C A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.2561 p.G854V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 189 63 24.80 316 1 0.32 COL12A1 1303 genome.wustl.edu 37 6 75893849 75893849 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 75893849 75893849 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.1009 p.P337S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 22 14 38.89 29 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75898136 75898136 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 75898136 75898136 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known silent c.939 p.I313 0.994 smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 33 10 23.26 60 0 0.00 COL12A1 1303 genome.wustl.edu 37 6 75912466 75912466 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 75912466 75912466 C T SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.43 p.A15T 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 24 5 17.24 38 0 0.00 COL13A1 1305 genome.wustl.edu 37 10 71562411 71562411 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 71562411 71562411 G C SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.232 p.E78Q 0.982 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 29 18 38.30 57 0 0.00 COL13A1 1305 genome.wustl.edu 37 10 71582155 71582155 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 71582155 71582155 G A SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 12 11 47.83 33 0 0.00 COL13A1 1305 genome.wustl.edu 37 10 71712663 71712663 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 71712663 71712663 G C SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.2051 p.R684T 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 65 33 33.67 94 0 0.00 COL14A1 7373 genome.wustl.edu 37 8 121262997 121262997 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 121262997 121262997 T C SNP COL14A1 ENST00000297848 human ensembl 70_37 +1 known missense c.2744 p.V915A 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 43 14 24.56 48 0 0.00 COL14A1 7373 genome.wustl.edu 37 8 121301998 121301998 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 121301998 121301998 C G SNP COL14A1 ENST00000297848 human ensembl 70_37 +1 known missense c.4229 p.S1410C 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 50 51 50.50 42 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101747953 101747953 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 101747953 101747953 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.207 p.F69 0.017 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 16 10 38.46 17 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101748154 101748154 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 101748154 101748154 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.408 p.L136 0.993 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 24 17 40.48 52 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101748164 101748164 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 101748164 101748164 G T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known nonsense c.418 p.E140* 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 27 6 18.18 32 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101748328 101748328 + Missense_Mutation SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 101748328 101748328 G T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.582 p.L194F 0.834 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 77 14 15.38 86 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101751495 101751495 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 101751495 101751495 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.759 p.D253 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 14 7 33.33 25 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101765855 101765855 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 101765855 101765855 G A SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.1186 p.E396K 0.012 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 24 8 25.00 61 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101812136 101812136 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 101812136 101812136 G A SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.2863 p.A955T 0.984 superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 52 15 22.39 45 0 0.00 COL15A1 1306 genome.wustl.edu 37 9 101832135 101832135 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 101832135 101832135 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.4134 p.I1378 0.912 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 24 19 44.19 53 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32118157 32118158 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 32118157 32118158 - A INS COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors COL16A1 HGNC ENSG00000084636 18 3 14.29 27 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32118157 32118158 + RNA INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32118157 32118158 - A INS COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors COL16A1 HGNC ENSG00000084636 45 5 10.00 43 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32118160 32118160 + RNA DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 32118160 32118160 C - DEL COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL16A1 HGNC ENSG00000084636 17 8 32.00 29 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32131524 32131524 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 32131524 32131524 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.3415 p.E1139Q 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 29 17 36.96 33 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32138051 32138051 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 32138051 32138051 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.3071 p.G1024A 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 45 7 13.46 42 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32138516 32138516 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 32138516 32138516 G A SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.2845 p.H949Y 0.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 68 18 20.93 84 0 0.00 COL16A1 1307 genome.wustl.edu 37 1 32162848 32162848 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 32162848 32162848 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.711 p.E237D 0.998 superfamily_ConA-like_lec_gl_sf pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 31 5 13.89 35 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105793763 105793763 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 105793763 105793763 C G SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.4096 p.D1366H 0.267 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 28 10 26.32 54 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105797434 105797434 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 105797434 105797434 G T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.3168 p.D1056E 0.996 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 13 4 23.53 27 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105815621 105815621 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105815621 105815621 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.1606 p.D536N 0.001 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 13 5 27.78 29 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105815742 105815742 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 105815742 105815742 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known silent c.1485 p.L495 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 8 3 27.27 22 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105816868 105816868 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 105816868 105816868 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.1330 p.A444T 0.008 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 17 6 26.09 12 0 0.00 COL17A1 1308 genome.wustl.edu 37 10 105817941 105817941 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 105817941 105817941 C G SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known silent c.1230 p.L410 0.261 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 29 15 34.09 43 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46875882 46875882 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 46875882 46875882 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.438 p.E146 0.000 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 49 17 25.76 66 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46888226 46888226 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 21 46888226 46888226 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.1422 p.T474 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 26 28 51.85 38 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46897681 46897681 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 46897681 46897681 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.2268 p.Q756 0.936 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 63 11 14.86 73 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46925096 46925096 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 46925096 46925096 C T SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known nonsense c.4162 p.Q1388* 1.000 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 35 8 18.60 49 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46925806 46925806 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 21 46925806 46925806 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4387 p.E1463K 0.982 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 57 33 36.67 93 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46925806 46925806 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46925806 46925806 G C SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4387 p.E1463Q 0.982 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 54 37 40.66 70 0 0.00 COL18A1 80781 genome.wustl.edu 37 21 46925859 46925859 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46925859 46925859 G C SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4440 p.Q1480H 0.031 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 58 36 38.30 73 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70610139 70610139 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 6 70610139 70610139 C G SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.175 p.L59V 0.981 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 42 9 17.65 52 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70831805 70831805 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 70831805 70831805 C G SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1312 p.L438V 0.187 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 57 19 25.00 36 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70851786 70851786 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 70851786 70851786 G C SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1484 p.G495A 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 39 34 46.58 82 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70851961 70851961 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 70851961 70851961 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1565 p.G522V 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 24 11 31.43 51 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70854859 70854859 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 6 70854859 70854859 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1730 p.G577V 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 53 27 33.75 55 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70856566 70856566 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 70856566 70856566 C T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1786 p.P596S 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 18 13 41.94 33 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70873240 70873240 + Missense_Mutation SNP A A C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 6 70873240 70873240 A C SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.2352 p.L784F 0.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 6 9 60.00 24 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70875853 70875853 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 70875853 70875853 G A SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known silent c.2421 p.G807 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 20 25 55.56 40 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70894806 70894806 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 70894806 70894806 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.2855 p.R952L 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 20 3 13.04 49 0 0.00 COL19A1 1310 genome.wustl.edu 37 6 70916910 70916910 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 70916910 70916910 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known nonsense c.3361 p.G1121* 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 19 3 13.64 51 0 0.00 COL1A1 1277 genome.wustl.edu 37 17 48262976 48262976 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48262976 48262976 C G SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known missense c.4282 p.E1428Q 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 50 28 35.44 76 0 0.00 COL1A1 1277 genome.wustl.edu 37 17 48264089 48264089 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 48264089 48264089 G A SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known silent c.3726 p.I1242 0.985 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 29 14 32.56 63 0 0.00 COL1A1 1277 genome.wustl.edu 37 17 48276789 48276789 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48276789 48276789 C T SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known missense c.359 p.R120Q 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 36 15 29.41 23 0 0.00 COL1A2 1278 genome.wustl.edu 37 7 94037505 94037505 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 94037505 94037505 G A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.650 p.G217E 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 18 11 37.93 32 0 0.00 COL1A2 1278 genome.wustl.edu 37 7 94039761 94039761 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 94039761 94039761 T A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known silent c.1119 p.G373 0.928 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 22 3 12.00 37 0 0.00 COL1A2 1278 genome.wustl.edu 37 7 94052321 94052321 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 94052321 94052321 G A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.2456 p.R819H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 155 57 26.89 157 0 0.00 COL1A2 1278 genome.wustl.edu 37 7 94052321 94052321 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 94052321 94052321 G A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.2456 p.R819H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 30 10 25.00 25 0 0.00 COL1A2 1278 genome.wustl.edu 37 7 94057017 94057017 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 94057017 94057017 T C SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.3346 p.F1116L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 143 35 19.66 171 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61939375 61939375 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 61939375 61939375 C G SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known silent c.708 p.L236 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 73 62 45.93 69 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61943400 61943400 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 61943400 61943400 C T SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.1796 p.S599L 0.005 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 9 5 35.71 9 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61943826 61943826 + Missense_Mutation SNP A A T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 20 61943826 61943826 A T SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.1858 p.T620S 0.928 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 59 30 33.71 104 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61947915 61947915 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 61947915 61947915 G C SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known silent c.2535 p.L845 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 53 18 25.35 44 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61950516 61950516 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 61950516 61950516 G A SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.2770 p.E924K 0.866 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 42 22 34.38 36 0 0.00 COL20A1 57642 genome.wustl.edu 37 20 61950537 61950537 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 61950537 61950537 G A SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.2791 p.G931R 0.935 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 63 24 27.59 47 0 0.00 COL21A1 81578 genome.wustl.edu 37 6 55922389 55922389 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 55922389 55922389 C G SNP COL21A1 ENST00000467045 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors COL21A1 HGNC ENSG00000124749 22 8 26.67 21 0 0.00 COL21A1 81578 genome.wustl.edu 37 6 56006594 56006594 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 56006594 56006594 C T SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.1531 p.D511N 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 47 18 27.69 76 0 0.00 COL21A1 81578 genome.wustl.edu 37 6 56035614 56035614 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 56035614 56035614 G C SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.859 p.Q287E 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 39 20 33.90 51 0 0.00 COL21A1 81578 genome.wustl.edu 37 6 56047395 56047395 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 56047395 56047395 G C SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.22 p.L8V 0.005 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 31 8 20.51 55 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139606405 139606405 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 8 139606405 139606405 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known silent c.4470 p.A1490 0.350 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 43 17 28.33 37 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139629165 139629165 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 139629165 139629165 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3862 p.G1288S 0.992 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 92 29 23.58 101 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139629177 139629177 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139629177 139629177 A C SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3850 p.S1284A 0.003 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 13 12 48.00 33 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139668160 139668160 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 139668160 139668160 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3313 p.D1105N 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 40 10 20.00 49 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139734394 139734394 + RNA SNP A A C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 8 139734394 139734394 A C SNP COL22A1 ENST00000341807 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL22A1 HGNC ENSG00000169436 19 8 28.57 33 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139749795 139749795 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 139749795 139749795 G T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.2111 p.P704H 0.065 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 41 26 38.24 28 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139749795 139749795 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 139749795 139749795 G T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.2111 p.P704H 0.065 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 61 51 44.74 72 0 0.00 COL22A1 169044 genome.wustl.edu 37 8 139790622 139790622 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 8 139790622 139790622 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.1732 p.G578R 0.218 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 53 21 28.38 53 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86313364 86313364 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 86313364 86313364 C T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.3446 p.G1149E 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 52 8 13.33 63 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86342821 86342821 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 86342821 86342821 C G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.3014 p.G1005A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 17 16 48.48 50 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86361540 86361540 + Splice_Site SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 86361540 86361540 C A SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known splice_site c.2922+1 e31+1 1.000 - - - no_errors COL24A1 HGNC ENSG00000171502 16 19 54.29 29 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86487947 86487947 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 86487947 86487947 C T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known silent c.2232 p.G744 0.968 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 14 9 39.13 62 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86488648 86488648 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 86488648 86488648 G T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.2092 p.P698T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 14 7 33.33 34 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86499587 86499587 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 86499587 86499587 C T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.1970 p.G657E 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 36 41 53.25 87 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86554876 86554876 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 86554876 86554876 G - DEL COL24A1 ENST00000370571 human ensembl 70_37 -1 known frame_shift_del c.1688 p.P563fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 20 6 23.08 37 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86590534 86590534 + Silent SNP T T C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 86590534 86590534 T C SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known silent c.1485 p.G495 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 34 4 10.53 34 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86591470 86591470 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 86591470 86591470 C G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.549 p.K183N 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 5 5 50.00 38 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86591519 86591519 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 86591519 86591519 G T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.500 p.A167D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 18 8 30.77 62 0 0.00 COL24A1 255631 genome.wustl.edu 37 1 86591521 86591521 + Silent SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 86591521 86591521 A G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known silent c.498 p.F166 0.823 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 36 4 10.00 66 0 0.00 COL25A1 84570 genome.wustl.edu 37 4 109767295 109767295 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 109767295 109767295 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known silent c.1515 p.P505 1.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 28 33 54.10 94 0 0.00 COL25A1 84570 genome.wustl.edu 37 4 109783676 109783676 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 109783676 109783676 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.1178 p.R393K 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 17 14 45.16 53 0 0.00 COL25A1 84570 genome.wustl.edu 37 4 109841754 109841754 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 109841754 109841754 G C SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.715 p.L239V 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 29 12 29.27 25 0 0.00 COL25A1 84570 genome.wustl.edu 37 4 109895530 109895530 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 109895530 109895530 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.485 p.G162E 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 49 6 10.71 62 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 116930429 116930429 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 116930429 116930429 C G SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known silent c.594 p.L198 0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 7 4 36.36 8 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 116930553 116930553 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 116930553 116930553 G A SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.718 p.D240N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 31 12 27.27 38 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 116999975 116999975 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 116999975 116999975 C A SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.2707 p.P903T 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 41 10 19.61 42 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 117002739 117002739 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 117002739 117002739 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.2807 p.P936L 0.997 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 49 20 28.99 58 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 117037965 117037965 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 117037965 117037965 G C SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.3634 p.D1212H 0.993 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 94 134 58.77 99 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 117052563 117052563 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 117052563 117052563 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known silent c.4320 p.I1440 0.018 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 26 12 31.58 59 0 0.00 COL27A1 85301 genome.wustl.edu 37 9 117063996 117063996 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 117063996 117063996 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.4844 p.P1615L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 81 14 14.74 76 0 0.00 COL28A1 340267 genome.wustl.edu 37 7 7472140 7472140 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 7472140 7472140 C T SNP COL28A1 ENST00000399429 human ensembl 70_37 -1 known silent c.1962 p.P654 0.982 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 86 23 21.10 111 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48368503 48368503 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48368503 48368503 C G SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.4029 p.E1343D 0.951 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 59 37 38.54 81 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48369200 48369200 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 48369200 48369200 G C SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known silent c.3786 p.L1262 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 24 7 22.58 50 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48369281 48369281 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 48369281 48369281 G A SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known silent c.3705 p.P1235 0.795 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 22 9 29.03 18 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48369760 48369760 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 48369760 48369760 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.3583 p.E1195K 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 26 12 31.58 32 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48369798 48369798 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 48369798 48369798 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.3545 p.G1182D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 10 13 56.52 36 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48380662 48380662 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 48380662 48380662 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.1375 p.G459S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 76 26 25.49 76 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48386683 48386683 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 48386683 48386683 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.1001 p.R334Q 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 42 25 37.31 36 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48393727 48393727 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 48393727 48393727 G T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known nonsense c.267 p.C89* 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 12 20 62.50 64 0 0.00 COL2A1 1280 genome.wustl.edu 37 12 48393822 48393822 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48393822 48393822 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.172 p.D58N 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 26 11 29.73 26 0 0.00 COL3A1 1281 genome.wustl.edu 37 2 189862095 189862095 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 189862095 189862095 C T SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known nonsense c.1849 p.Q617* 0.225 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 11 10 47.62 38 0 0.00 COL3A1 1281 genome.wustl.edu 37 2 189864098 189864098 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 189864098 189864098 G A SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.2110 p.E704K 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 17 7 29.17 30 0 0.00 COL3A1 1281 genome.wustl.edu 37 2 189868143 189868143 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 189868143 189868143 C T SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.2560 p.P854S 0.979 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 60 23 27.71 80 0 0.00 COL3A1 1281 genome.wustl.edu 37 2 189873889 189873890 + Frame_Shift_Ins INS - - A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 189873889 189873890 - A INS COL3A1 ENST00000304636 human ensembl 70_37 +1 known frame_shift_ins c.3765_3766 p.N1256fs 0.991:1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 91 13 12.50 102 0 0.00 COL3A1 1281 genome.wustl.edu 37 2 189875551 189875551 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 189875551 189875551 G A SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.4189 p.E1397K 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 29 10 25.64 33 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110819508 110819508 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 110819508 110819508 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known nonsense c.3946 p.Q1316* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 12 7 36.84 27 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110822996 110822996 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 110822996 110822996 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known missense c.3640 p.P1214S 0.973 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 44 17 27.87 51 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110831667 110831667 + Silent SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 110831667 110831667 A G SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known silent c.2295 p.V765 0.990 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 63 23 26.74 58 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110839653 110839653 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 110839653 110839653 C T SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known silent c.1560 p.L520 0.910 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 71 15 17.44 70 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110850842 110850842 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 110850842 110850842 A G SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known silent c.1257 p.P419 0.046 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 41 12 22.64 59 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110859046 110859046 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 110859046 110859046 C T SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known missense c.824 p.G275E 0.816 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 68 21 23.60 96 0 0.00 COL4A1 1282 genome.wustl.edu 37 13 110859214 110859214 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 110859214 110859214 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known nonsense c.805 p.Q269* 0.076 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 18 8 30.77 37 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 110960452 110960452 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 110960452 110960452 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.81 p.L27 0.152 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 47 26 35.62 64 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 110960452 110960452 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 110960452 110960452 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.81 p.L27 0.152 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 54 6 10.00 62 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111088655 111088655 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 13 111088655 111088655 G T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.766 p.D256Y 0.049 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 26 19 42.22 44 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111088663 111088663 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111088663 111088663 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.774 p.L258 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 30 15 33.33 36 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111098209 111098209 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 111098209 111098209 G C SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.991 p.D331H 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 35 19 35.19 60 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111109743 111109743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 111109743 111109743 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.1393 p.P465S 0.016 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 32 28 46.67 53 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111155758 111155758 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 13 111155758 111155758 G T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.4068 p.G1356 0.041 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 62 26 29.55 67 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111155804 111155804 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 111155804 111155804 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.4114 p.P1372S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 16 15 48.39 56 0 0.00 COL4A2 1284 genome.wustl.edu 37 13 111160572 111160572 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 111160572 111160572 T G SNP COL4A2 ENST00000480609 human ensembl 70_37 +1 putative rna NULL NULL 0.321 - - - no_errors COL4A2 HGNC ENSG00000134871 54 17 23.94 109 0 0.00 COL4A2-AS2 100129836 genome.wustl.edu 37 13 111109251 111109251 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 111109251 111109251 G A SNP COL4A2-AS2 ENST00000599516 human ensembl 70_37 -1 known missense c.814 p.R272C 0.337 NULL NULL - no_errors COL4A2-AS2 HGNC ENSG00000224821 44 6 12.00 33 0 0.00 COL4A3 1285 genome.wustl.edu 37 2 228111453 228111453 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 228111453 228111453 C T SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.440 p.P147L 0.801 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 96 26 21.14 105 0 0.00 COL4A3 1285 genome.wustl.edu 37 2 228121064 228121064 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 228121064 228121064 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known silent c.939 p.V313 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 74 32 30.19 169 0 0.00 COL4A3 1285 genome.wustl.edu 37 2 228134682 228134682 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 228134682 228134682 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.1561 p.L521V 0.410 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 40 11 21.57 44 0 0.00 COL4A3 1285 genome.wustl.edu 37 2 228159698 228159698 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 228159698 228159698 G C SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.3437 p.G1146A 0.727 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 45 18 28.57 54 0 0.00 COL4A3 1285 genome.wustl.edu 37 2 228172593 228172593 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 228172593 228172593 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.4420 p.L1474V 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 42 9 17.65 44 0 0.00 COL4A3BP 10087 genome.wustl.edu 37 5 74677813 74677813 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 74677813 74677813 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known nonsense c.1962 p.W654* 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC ENSG00000113163 44 5 10.00 30 0 0.00 COL4A3BP 10087 genome.wustl.edu 37 5 74677813 74677813 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 74677813 74677813 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known nonsense c.1962 p.W654* 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC ENSG00000113163 55 10 15.38 85 0 0.00 COL4A3BP 10087 genome.wustl.edu 37 5 74696108 74696108 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 74696108 74696108 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known silent c.1416 p.K472 1.000 NULL pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC ENSG00000113163 62 20 24.39 86 0 0.00 COL4A3BP 10087 genome.wustl.edu 37 5 74722252 74722252 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 74722252 74722252 C A SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known missense c.784 p.V262L 1.000 NULL pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC ENSG00000113163 35 6 14.63 26 0 0.00 COL4A3BP 10087 genome.wustl.edu 37 5 74722305 74722306 + Splice_Site INS - - A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 74722305 74722306 - A INS COL4A3BP ENST00000380494 human ensembl 70_37 -1 known splice_site_ins c.733-3_733-2 e5-2 1.000:0.996 - - - no_errors COL4A3BP HGNC ENSG00000113163 24 3 11.11 19 0 0.00 COL4A4 1286 genome.wustl.edu 37 2 227895255 227895255 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 227895255 227895255 C T SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known missense c.3877 p.D1293N 0.993 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 23 20 46.51 56 0 0.00 COL4A4 1286 genome.wustl.edu 37 2 227919323 227919323 + Silent SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 227919323 227919323 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known silent c.2847 p.L949 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 39 9 18.75 29 0 0.00 COL4A4 1286 genome.wustl.edu 37 2 227919323 227919323 + Silent SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 227919323 227919323 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known silent c.2847 p.L949 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 65 13 16.67 100 0 0.00 COL4A4 1286 genome.wustl.edu 37 2 228004878 228004878 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 228004878 228004878 C A SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known missense c.191 p.R64L 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 33 4 10.81 37 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107683188 107683189 + RNA INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 107683188 107683189 - T INS COL4A5 ENST00000477429 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COL4A5 HGNC ENSG00000188153 23 3 11.54 19 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107683385 107683385 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 107683385 107683385 C T SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.30 p.A10 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 34 4 10.53 37 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107814650 107814650 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 X 107814650 107814650 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known missense c.392 p.R131H 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 49 43 46.74 129 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107834847 107834847 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 107834847 107834847 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known missense c.1396 p.G466R 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 200 26 11.50 243 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107909764 107909764 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 107909764 107909764 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known missense c.3493 p.E1165K 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 49 15 22.39 61 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107911727 107911727 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107911727 107911727 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.3783 p.G1261 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 17 7 29.17 45 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107920734 107920734 + Silent SNP A A T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 107920734 107920734 A T SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.3813 p.L1271 0.937 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 57 21 26.92 74 0 0.00 COL4A5 1287 genome.wustl.edu 37 X 107936120 107936120 + Silent SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 107936120 107936120 C A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.4671 p.P1557 0.996 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 59 15 20.27 60 0 0.00 COL4A6 1288 genome.wustl.edu 37 X 107408146 107408146 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 107408146 107408146 G A SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.3934 p.P1312S 0.607 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 43 10 18.87 55 0 0.00 COL4A6 1288 genome.wustl.edu 37 X 107412840 107412840 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 107412840 107412840 G A SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known silent c.3579 p.I1193 0.073 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 48 10 17.24 46 0 0.00 COL4A6 1288 genome.wustl.edu 37 X 107414135 107414135 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 107414135 107414135 C T SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.3293 p.R1098K 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 16 6 27.27 16 0 0.00 COL4A6 1288 genome.wustl.edu 37 X 107418434 107418434 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 107418434 107418434 T C SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.2845 p.N949D 0.003 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 34 16 32.00 59 0 0.00 COL4A6 1288 genome.wustl.edu 37 X 107431200 107431200 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 107431200 107431200 G T SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.1648 p.L550I 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 20 8 28.57 42 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137620534 137620534 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 137620534 137620534 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.805 p.E269K 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 47 54 52.94 104 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137622308 137622308 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 137622308 137622308 C G SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.1151 p.S384C 0.715 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 56 29 34.12 85 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137642697 137642697 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 137642697 137642697 C T SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.1631 p.S544F 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 40 30 42.86 61 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137690295 137690295 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 137690295 137690295 G C SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.2940 p.Q980H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 39 10 20.41 41 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137701008 137701008 + RNA SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 137701008 137701008 G C SNP COL5A1 ENST00000463925 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL5A1 HGNC ENSG00000130635 121 14 10.37 79 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137706730 137706730 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 137706730 137706730 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.3994 p.D1332N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 15 13 46.43 62 0 0.00 COL5A1 1289 genome.wustl.edu 37 9 137734054 137734054 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 137734054 137734054 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.5422 p.E1808K 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 63 26 29.21 128 0 0.00 COL5A1-AS1 414316 genome.wustl.edu 37 9 137544686 137544686 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 137544686 137544686 C T SNP COL5A1-AS1 ENST00000371813 human ensembl 70_37 -1 known rna NULL NULL 0.467 - - - no_errors COL5A1-AS1 HGNC ENSG00000204011 30 11 26.83 25 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189904002 189904002 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 189904002 189904002 C T SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known silent c.3921 p.Q1307 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 48 29 37.66 53 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189904060 189904060 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 189904060 189904060 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.3863 p.S1288L 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 29 29 50.00 83 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189904256 189904256 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 189904256 189904256 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.3667 p.P1223S 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 39 21 35.00 57 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189907496 189907496 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 2 189907496 189907496 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.3475 p.P1159S 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 21 26 55.32 33 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189927592 189927592 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 189927592 189927592 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.1976 p.P659L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 19 8 29.63 36 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189927992 189927992 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 189927992 189927992 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.1775 p.A592V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 29 27 48.21 46 0 0.00 COL5A2 1290 genome.wustl.edu 37 2 189929375 189929375 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 189929375 189929375 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known nonsense c.1624 p.Q542* 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 13 5 27.78 28 0 0.00 COL5A3 50509 genome.wustl.edu 37 19 10088308 10088308 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 10088308 10088308 C T SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.3088 p.E1030K 0.147 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 51 93 64.58 120 0 0.00 COL5A3 50509 genome.wustl.edu 37 19 10107297 10107297 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 10107297 10107297 C G SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.1332 p.M444I 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 11 5 31.25 29 0 0.00 COL5A3 50509 genome.wustl.edu 37 19 10112470 10112470 + Missense_Mutation SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 10112470 10112470 T C SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.937 p.T313A 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 121 14 10.37 153 0 0.00 COL6A1 1291 genome.wustl.edu 37 21 47406452 47406452 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 47406452 47406452 G A SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known silent c.441 p.L147 0.374 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 68 25 26.88 120 0 0.00 COL6A1 1291 genome.wustl.edu 37 21 47410899 47410899 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47410899 47410899 C G SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.1063 p.Q355E 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 38 27 41.54 57 0 0.00 COL6A1 1291 genome.wustl.edu 37 21 47421214 47421214 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 47421214 47421214 G C SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.1870 p.E624Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 60 16 21.05 43 0 0.00 COL6A1 1291 genome.wustl.edu 37 21 47423314 47423314 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47423314 47423314 C G SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.2474 p.S825C 0.743 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 40 20 33.33 34 0 0.00 COL6A1 1291 genome.wustl.edu 37 21 47423450 47423450 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 21 47423450 47423450 C T SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known silent c.2610 p.D870 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 20 7 25.93 37 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47532338 47532338 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 47532338 47532338 C G SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known silent c.561 p.L187 0.966 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 19 6 24.00 23 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47537804 47537804 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 47537804 47537804 C G SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.1070 p.P357R 0.966 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 138 19 12.10 164 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47545434 47545434 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47545434 47545434 G A SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known silent c.1872 p.E624 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 25 21 45.65 24 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47545731 47545731 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 47545731 47545731 G C SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2002 p.E668Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 25 4 13.79 38 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47552113 47552113 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 21 47552113 47552113 G A SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2707 p.E903K 0.713 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 26 20 43.48 74 0 0.00 COL6A2 1292 genome.wustl.edu 37 21 47552126 47552126 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 47552126 47552126 C T SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2720 p.T907I 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 33 24 42.11 53 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238243461 238243461 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 238243461 238243461 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.9037 p.E3013K 0.980 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 29 4 12.12 29 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238249105 238249105 + Frame_Shift_Del DEL G G - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 238249105 238249105 G - DEL COL6A3 ENST00000295550 human ensembl 70_37 -1 known frame_shift_del c.8454 p.F2819fs 0.898 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 13 2 13.33 43 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238249571 238249571 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 238249571 238249571 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.7988 p.R2663T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 9 20 68.97 46 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238261167 238261167 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238261167 238261167 G T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known silent c.6751 p.R2251 0.986 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 8 27 77.14 50 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238267881 238267881 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 238267881 238267881 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.6322 p.E2108Q 1.000 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 71 11 13.41 96 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238274445 238274445 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 238274445 238274445 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.5734 p.E1912Q 0.997 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 36 22 37.29 111 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238275692 238275692 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 238275692 238275692 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.5138 p.G1713E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 53 20 27.40 109 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238283622 238283622 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 238283622 238283622 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.3112 p.E1038Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 27 8 22.22 22 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238285451 238285451 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 238285451 238285451 G T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.3034 p.L1012I 0.954 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 23 12 34.29 41 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238287552 238287552 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 238287552 238287552 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.2224 p.H742Y 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 12 27 69.23 35 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238287552 238287552 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 238287552 238287552 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.2224 p.H742Y 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 8 16 66.67 45 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238289881 238289881 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 238289881 238289881 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.1574 p.T525M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 5 15 75.00 25 0 0.00 COL6A3 1293 genome.wustl.edu 37 2 238296430 238296430 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 238296430 238296430 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known silent c.1107 p.L369 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 18 15 44.12 27 0 0.00 COL6A4P1 344875 genome.wustl.edu 37 3 15219174 15219174 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 15219174 15219174 C T SNP COL6A4P1 ENST00000446690 human ensembl 70_37 -1 known rna NULL NULL 0.754 - - - no_errors COL6A4P1 HGNC ENSG00000230524 25 7 21.88 32 0 0.00 COL6A4P1 344875 genome.wustl.edu 37 3 15219329 15219329 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 15219329 15219329 C T SNP COL6A4P1 ENST00000446690 human ensembl 70_37 -1 known rna NULL NULL 0.222 - - - no_errors COL6A4P1 HGNC ENSG00000230524 31 8 20.51 42 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130095298 130095298 + Missense_Mutation SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 3 130095298 130095298 C A SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.286 p.H96N 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 36 21 36.84 48 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130095415 130095415 + Missense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 130095415 130095415 C G SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.403 p.P135A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 70 36 33.96 53 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130095513 130095513 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 130095513 130095513 G T SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 18 3 14.29 47 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130107629 130107629 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 130107629 130107629 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.2068 p.E690Q 0.909 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 15 4 21.05 23 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130124439 130124439 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 130124439 130124439 G A SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.4289 p.R1430Q 0.706 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 50 12 19.35 51 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130124985 130124985 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 130124985 130124985 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.4391 p.G1464A 0.983 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 63 51 44.74 137 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130174321 130174321 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 130174321 130174321 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.6601 p.D2201H 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 20 12 36.36 48 0 0.00 COL6A5 256076 genome.wustl.edu 37 3 130190558 130190558 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 130190558 130190558 A G SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.7607 p.E2536G 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 18 13 41.94 44 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130279232 130279232 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 130279232 130279232 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known silent c.24 p.L8 0.088 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 48 13 21.31 30 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130284200 130284200 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 130284200 130284200 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known nonsense c.1024 p.R342* 0.606 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 176 54 23.48 211 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130286029 130286029 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 130286029 130286029 G C SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.1766 p.R589T 0.268 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 16 11 40.74 17 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130287239 130287239 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 130287239 130287239 A G SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.2192 p.D731G 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 9 5 35.71 55 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130289750 130289750 + Missense_Mutation SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 130289750 130289750 T G SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.2490 p.D830E 0.446 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 49 14 22.22 31 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130300620 130300620 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 130300620 130300620 G C SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.3763 p.E1255Q 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 31 6 16.22 41 0 0.00 COL6A6 131873 genome.wustl.edu 37 3 130360553 130360553 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 130360553 130360553 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.5149 p.R1717C 0.996 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 9 4 30.77 17 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48601912 48601912 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 48601912 48601912 C G SNP COL7A1 ENST00000470076 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL7A1 HGNC ENSG00000114270 40 6 13.04 43 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48602852 48602852 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48602852 48602852 C G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.8518 p.E2840Q 0.912 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 30 13 30.23 72 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48605318 48605318 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 48605318 48605318 G A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.7882 p.R2628W 0.982 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 23 10 30.30 29 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48612260 48612260 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 48612260 48612260 T A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.6318 p.E2106D 0.001 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 15 20 57.14 38 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48619011 48619011 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 48619011 48619011 C G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.4777 p.D1593H 0.986 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 36 26 41.94 76 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48622354 48622354 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48622354 48622354 G A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.4000 p.R1334C 0.629 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 20 10 33.33 26 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48623864 48623864 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 48623864 48623864 G T SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.3451 p.P1151T 0.346 pfam_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 32 8 20.00 45 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48624494 48624494 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 48624494 48624494 G C SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.3187 p.Q1063E 0.030 pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 25 17 40.48 35 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48626419 48626419 + Missense_Mutation SNP G G T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 48626419 48626419 G T SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.2324 p.P775H 0.857 pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 21 4 16.00 29 0 0.00 COL7A1 1294 genome.wustl.edu 37 3 48629870 48629870 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 48629870 48629870 T G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.1007 p.Q336P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 20 14 41.18 37 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99509748 99509748 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 99509748 99509748 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.222 p.M74I 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 60 17 22.08 48 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99513685 99513685 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 99513685 99513685 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.940 p.G314R 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 70 19 21.35 75 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99514078 99514078 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 99514078 99514078 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.1333 p.E445K 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 56 11 16.42 39 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99514229 99514229 + Missense_Mutation SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 99514229 99514229 G C SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.1484 p.G495A 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 7 12 63.16 27 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99514522 99514522 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 99514522 99514522 G C SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.1777 p.D593H 0.889 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 80 26 24.30 54 0 0.00 COL8A1 1295 genome.wustl.edu 37 3 99514614 99514614 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 99514614 99514614 C T SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known silent c.1869 p.T623 0.001 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 75 16 17.58 52 0 0.00 COL8A2 1296 genome.wustl.edu 37 1 36563499 36563499 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36563499 36563499 C T SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known missense c.1783 p.D595N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 62 11 15.07 70 0 0.00 COL8A2 1296 genome.wustl.edu 37 1 36563680 36563680 + Silent SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 36563680 36563680 C A SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known silent c.1602 p.G534 0.760 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 3 4 57.14 9 0 0.00 COL8A2 1296 genome.wustl.edu 37 1 36564455 36564455 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36564455 36564455 C G SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known missense c.827 p.G276A 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 15 4 21.05 21 0 0.00 COL9A1 1297 genome.wustl.edu 37 6 70926358 70926358 + RNA DEL T T - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 70926358 70926358 T - DEL COL9A1 ENST00000486080 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL9A1 HGNC ENSG00000112280 20 6 23.08 25 0 0.00 COL9A1 1297 genome.wustl.edu 37 6 70978539 70978539 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 70978539 70978539 G C SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known missense c.1255 p.R419G 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 28 8 22.22 31 0 0.00 COL9A1 1297 genome.wustl.edu 37 6 70991093 70991093 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 70991093 70991093 G A SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known silent c.876 p.D292 0.987 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 17 11 39.29 41 0 0.00 COL9A1 1297 genome.wustl.edu 37 6 71003986 71003986 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 71003986 71003986 G C SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known missense c.580 p.L194V 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 48 39 44.83 71 0 0.00 COL9A2 1298 genome.wustl.edu 37 1 40773118 40773118 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 40773118 40773118 C T SNP COL9A2 ENST00000372748 human ensembl 70_37 -1 known silent c.1008 p.A336 0.992 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 10 99 90.00 53 0 0.00 COL9A2 1298 genome.wustl.edu 37 1 40777362 40777362 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 40777362 40777362 G A SNP COL9A2 ENST00000372748 human ensembl 70_37 -1 known missense c.443 p.S148L 0.995 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 34 11 24.44 57 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61453150 61453150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 61453150 61453150 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known silent c.411 p.L137 0.990 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 46 18 28.12 61 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61457204 61457204 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 20 61457204 61457204 G A SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known silent c.666 p.P222 0.997 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 58 55 48.67 124 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61460830 61460830 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 61460830 61460830 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known silent c.1032 p.S344 1.000 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 31 14 30.43 28 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61467602 61467602 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 61467602 61467602 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known nonsense c.1465 p.Q489* 0.409 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 68 16 19.05 61 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61467602 61467602 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61467602 61467602 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known nonsense c.1465 p.Q489* 0.409 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 24 47 66.20 37 0 0.00 COL9A3 1299 genome.wustl.edu 37 20 61468389 61468389 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 61468389 61468389 G A SNP COL9A3 ENST00000466532 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC ENSG00000092758 32 6 15.79 48 0 0.00 COLEC10 10584 genome.wustl.edu 37 8 120118095 120118095 + Nonsense_Mutation SNP A A T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 120118095 120118095 A T SNP COLEC10 ENST00000332843 human ensembl 70_37 +1 known nonsense c.499 p.K167* 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 38 8 17.39 32 0 0.00 COLEC11 78989 genome.wustl.edu 37 2 3691113 3691113 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 3691113 3691113 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.450 p.L150 0.844 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 20 5 20.00 46 0 0.00 COLEC11 78989 genome.wustl.edu 37 2 3691438 3691438 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 3691438 3691438 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.588 p.D196 0.997 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 48 17 26.15 55 0 0.00 COLEC11 78989 genome.wustl.edu 37 2 3691678 3691678 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 3691678 3691678 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.828 p.F276 0.997 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 16 11 40.74 39 0 0.00 COLEC12 81035 genome.wustl.edu 37 18 333051 333051 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 333051 333051 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1909 p.D637N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 29 11 27.50 37 0 0.00 COLEC12 81035 genome.wustl.edu 37 18 334982 334982 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 18 334982 334982 G T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1576 p.P526T 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 53 55 50.93 37 0 0.00 COLEC12 81035 genome.wustl.edu 37 18 346407 346407 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 346407 346407 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known silent c.1215 p.L405 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 50 27 35.06 73 0 0.00 COLEC12 81035 genome.wustl.edu 37 18 346444 346444 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 18 346444 346444 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1178 p.R393H 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 116 71 37.97 148 1 0.67 COLEC12 81035 genome.wustl.edu 37 18 346550 346550 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 346550 346550 G A SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1072 p.R358W 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 35 22 38.60 23 0 0.00 COLEC12 81035 genome.wustl.edu 37 18 346882 346882 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 346882 346882 A G SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.740 p.V247A 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 87 25 22.32 115 0 0.00 COLQ 8292 genome.wustl.edu 37 3 15516911 15516911 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15516911 15516911 C G SNP COLQ ENST00000495788 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors COLQ HGNC ENSG00000206561 21 12 36.36 35 0 0.00 COLQ 8292 genome.wustl.edu 37 3 15531137 15531137 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 15531137 15531137 G A SNP COLQ ENST00000383788 human ensembl 70_37 -1 known silent c.114 p.P38 0.185 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 16 4 20.00 19 0 0.00 COMMD2 51122 genome.wustl.edu 37 3 149459430 149459430 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 149459430 149459430 G A SNP COMMD2 ENST00000473414 human ensembl 70_37 -1 known missense c.478 p.H160Y 0.168 pfam_HCaRG pfam_HCaRG - no_errors COMMD2 HGNC ENSG00000114744 73 10 12.05 125 0 0.00 COMMD3 23412 genome.wustl.edu 37 10 22606984 22606984 + RNA SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 10 22606984 22606984 C T SNP COMMD3 ENST00000470045 human ensembl 70_37 +1 known rna NULL NULL 0.112 - - - no_errors COMMD3 HGNC ENSG00000148444 20 11 35.48 37 0 0.00 COMMD3 23412 genome.wustl.edu 37 10 22607675 22607675 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 22607675 22607675 T G SNP COMMD3 ENST00000463688 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors COMMD3 HGNC ENSG00000148444 20 10 33.33 34 0 0.00 COMMD4 54939 genome.wustl.edu 37 15 75632155 75632155 + Silent SNP A A C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 15 75632155 75632155 A C SNP COMMD4 ENST00000267935 human ensembl 70_37 +1 known silent c.495 p.P165 0.102 pfam_HCaRG pfam_HCaRG - no_errors COMMD4 HGNC ENSG00000140365 28 5 15.15 32 0 0.00 COMMD6 170622 genome.wustl.edu 37 13 76100690 76100690 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 76100690 76100690 G C SNP COMMD6 ENST00000460675 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors COMMD6 HGNC ENSG00000188243 23 4 14.81 39 0 0.00 COMMD6 170622 genome.wustl.edu 37 13 76104529 76104529 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 76104529 76104529 C G SNP COMMD6 ENST00000486516 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors COMMD6 HGNC ENSG00000188243 2 4 66.67 9 0 0.00 COMMD6 170622 genome.wustl.edu 37 13 76111745 76111745 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 76111745 76111745 C T SNP COMMD6 ENST00000471682 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 18 8 30.77 17 0 0.00 COMMD7 149951 genome.wustl.edu 37 20 31291246 31291246 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31291246 31291246 G A SNP COMMD7 ENST00000278980 human ensembl 70_37 -1 known nonsense c.541 p.Q181* 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 10 8 44.44 27 0 0.00 COMMD7 149951 genome.wustl.edu 37 20 31294509 31294509 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 31294509 31294509 G C SNP COMMD7 ENST00000278980 human ensembl 70_37 -1 known missense c.295 p.L99V 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 34 10 22.73 51 0 0.00 COMP 1311 genome.wustl.edu 37 19 18896802 18896802 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18896802 18896802 G A SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.1462 p.P488S 1.000 NULL pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 43 6 12.24 45 0 0.00 COMP 1311 genome.wustl.edu 37 19 18898414 18898414 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 18898414 18898414 C T SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.1021 p.E341K 0.084 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 18 15 45.45 36 0 0.00 COMP 1311 genome.wustl.edu 37 19 18899092 18899092 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 18899092 18899092 C T SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.904 p.D302N 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 35 8 18.60 56 0 0.00 COMTD1 118881 genome.wustl.edu 37 10 76994715 76994715 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 76994715 76994715 C T SNP COMTD1 ENST00000372538 human ensembl 70_37 -1 known silent c.483 p.K161 0.995 pfam_O-MeTrfase_3 pfam_O-MeTrfase_3 - no_errors COMTD1 HGNC ENSG00000165644 40 7 14.58 39 0 0.00 COPA 1314 genome.wustl.edu 37 1 160261692 160261692 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160261692 160261692 C T SNP COPA ENST00000368069 human ensembl 70_37 -1 known missense c.3202 p.E1068K 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 38 11 22.45 43 0 0.00 COPA 1314 genome.wustl.edu 37 1 160276954 160276954 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160276954 160276954 G A SNP COPA ENST00000368069 human ensembl 70_37 -1 known missense c.1301 p.S434L 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 29 13 30.95 30 0 0.00 COPB2 9276 genome.wustl.edu 37 3 139077085 139077085 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 139077085 139077085 G A SNP COPB2 ENST00000333188 human ensembl 70_37 -1 known missense c.2582 p.T861I 0.787 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 36 9 20.00 28 0 0.00 COPE 11316 genome.wustl.edu 37 19 19010503 19010503 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 19010503 19010503 G A SNP COPE ENST00000262812 human ensembl 70_37 -1 known silent c.912 p.Y304 0.994 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 29 14 32.56 64 0 0.00 COPE 11316 genome.wustl.edu 37 19 19014100 19014100 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19014100 19014100 G T SNP COPE ENST00000262812 human ensembl 70_37 -1 known missense c.712 p.L238M 0.921 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 73 23 23.96 97 0 0.00 COPE 11316 genome.wustl.edu 37 19 19021651 19021651 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 19021651 19021651 G A SNP COPE ENST00000597646 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COPE HGNC ENSG00000105669 6 5 45.45 14 0 0.00 COPE 11316 genome.wustl.edu 37 19 19021788 19021788 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 19021788 19021788 C A SNP COPE ENST00000262812 human ensembl 70_37 -1 known missense c.282 p.E94D 0.940 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 22 8 26.67 48 0 0.00 COPE 11316 genome.wustl.edu 37 19 19030098 19030098 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19030098 19030098 G A SNP COPE ENST00000262812 human ensembl 70_37 -1 known silent c.60 p.F20 1.000 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 58 12 16.90 65 0 0.00 COPG1 22820 genome.wustl.edu 37 3 128971139 128971139 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 128971139 128971139 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 179 21 10.50 122 0 0.00 COPG1 22820 genome.wustl.edu 37 3 128971139 128971139 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 128971139 128971139 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 55 12 17.91 43 0 0.00 COPG1 22820 genome.wustl.edu 37 3 128971466 128971466 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128971466 128971466 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.172 p.G58R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 27 11 28.95 34 0 0.00 COPG1 22820 genome.wustl.edu 37 3 128984496 128984496 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128984496 128984496 C T SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known silent c.1329 p.I443 0.099 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 21 9 30.00 24 0 0.00 COPG1 22820 genome.wustl.edu 37 3 128990687 128990687 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128990687 128990687 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.1921 p.E641K 1.000 pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 112 31 21.68 50 0 0.00 COPG2 26958 genome.wustl.edu 37 7 130353481 130353481 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 130353481 130353481 C T SNP COPG2 ENST00000445977 human ensembl 70_37 -1 known missense c.28 p.E10K 1.000 NULL pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold - no_errors COPG2 HGNC ENSG00000158623 56 33 37.08 111 0 0.00 COPS2 9318 genome.wustl.edu 37 15 49420152 49420152 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 15 49420152 49420152 C T SNP COPS2 ENST00000299259 human ensembl 70_37 -1 known missense c.1348 p.A450T 1.000 NULL pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 153 17 10.00 165 0 0.00 COPS2 9318 genome.wustl.edu 37 15 49421674 49421674 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 49421674 49421674 C A SNP COPS2 ENST00000299259 human ensembl 70_37 -1 known missense c.1149 p.K383N 1.000 pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PCI_dom pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 58 50 46.30 82 0 0.00 COPS3 8533 genome.wustl.edu 37 17 17163731 17163731 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 17163731 17163731 C T SNP COPS3 ENST00000268717 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 58 30 34.09 96 0 0.00 COPS4 51138 genome.wustl.edu 37 4 83987636 83987636 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 83987636 83987636 C T SNP COPS4 ENST00000264389 human ensembl 70_37 +1 known missense c.932 p.S311F 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS4 HGNC ENSG00000138663 21 17 44.74 52 0 0.00 COPS5 10987 genome.wustl.edu 37 8 67968821 67968821 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67968821 67968821 C T SNP COPS5 ENST00000357849 human ensembl 70_37 -1 known missense c.592 p.E198K 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS5 HGNC ENSG00000121022 29 23 44.23 61 0 0.00 COPS5 10987 genome.wustl.edu 37 8 67974138 67974138 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 67974138 67974138 C T SNP COPS5 ENST00000357849 human ensembl 70_37 -1 known missense c.94 p.D32N 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS5 HGNC ENSG00000121022 61 11 15.28 34 0 0.00 COPS6 10980 genome.wustl.edu 37 7 99689397 99689397 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 99689397 99689397 C T SNP COPS6 ENST00000303904 human ensembl 70_37 +1 known silent c.969 p.R323 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS6 HGNC ENSG00000168090 53 26 32.50 38 0 0.00 COQ10A 93058 genome.wustl.edu 37 12 56661649 56661649 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 56661649 56661649 C T SNP COQ10A ENST00000308197 human ensembl 70_37 +1 known missense c.206 p.S69L 0.000 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 20 4 16.67 41 0 0.00 COQ3 51805 genome.wustl.edu 37 6 99817559 99817559 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 99817559 99817559 C T SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known missense c.1027 p.E343K 0.407 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 178 93 34.32 279 0 0.00 COQ3 51805 genome.wustl.edu 37 6 99828199 99828200 + Frame_Shift_Ins INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 99828199 99828200 - A INS COQ3 ENST00000254759 human ensembl 70_37 -1 known frame_shift_ins c.252_251 p.Y85fs 0.000:0.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 18 12 40.00 56 0 0.00 COQ3 51805 genome.wustl.edu 37 6 99831699 99831699 + Silent SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 99831699 99831699 A G SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known silent c.108 p.V36 0.669 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 63 25 28.41 74 0 0.00 COQ3 51805 genome.wustl.edu 37 6 99831701 99831701 + Splice_Site SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 99831701 99831701 C T SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known splice_site c.107-1 e2-1 0.683 - - - no_errors COQ3 HGNC ENSG00000132423 64 21 24.71 76 0 0.00 COQ4 51117 genome.wustl.edu 37 9 131085386 131085386 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131085386 131085386 C T SNP COQ4 ENST00000300452 human ensembl 70_37 +1 known silent c.162 p.A54 0.097 pfam_CoenzQ_biosynthesis_Coq4 pfam_CoenzQ_biosynthesis_Coq4 - no_errors COQ4 HGNC ENSG00000167113 14 10 41.67 10 0 0.00 COQ5 84274 genome.wustl.edu 37 12 120960131 120960131 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 120960131 120960131 C T SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.238 p.D80N 1.000 pfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 31 8 20.51 38 0 0.00 COQ5 84274 genome.wustl.edu 37 12 120966892 120966892 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 120966892 120966892 G A SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.53 p.S18L 0.005 NULL pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 20 17 45.95 38 0 0.00 COQ5 84274 genome.wustl.edu 37 12 120966892 120966892 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 120966892 120966892 G A SNP COQ5 ENST00000288532 human ensembl 70_37 -1 known missense c.53 p.S18L 0.005 NULL pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 25 19 43.18 22 0 0.00 COQ6 51004 genome.wustl.edu 37 14 74422517 74422517 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 74422517 74422517 G A SNP COQ6 ENST00000334571 human ensembl 70_37 +1 known missense c.367 p.A123T 1.000 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 38 18 32.14 108 0 0.00 COQ7 10229 genome.wustl.edu 37 16 19083257 19083257 + Silent SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 19083257 19083257 A G SNP COQ7 ENST00000321998 human ensembl 70_37 +1 known silent c.81 p.G27 0.028 NULL pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like - no_errors COQ7 HGNC ENSG00000167186 45 13 22.41 54 0 0.00 COQ7 10229 genome.wustl.edu 37 16 19089473 19089473 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 19089473 19089473 G C SNP COQ7 ENST00000321998 human ensembl 70_37 +1 known missense c.647 p.R216T 1.000 pfam_Ubq_synth_Coq7 pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like - no_errors COQ7 HGNC ENSG00000167186 33 14 29.79 22 0 0.00 COQ9 57017 genome.wustl.edu 37 16 57486731 57486731 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 57486731 57486731 C T SNP COQ9 ENST00000262507 human ensembl 70_37 +1 known silent c.261 p.G87 0.002 NULL pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 34 6 15.00 21 0 0.00 CORIN 10699 genome.wustl.edu 37 4 47625621 47625621 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 47625621 47625621 T G SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.2507 p.K836T 0.998 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 23 6 20.69 41 0 0.00 CORIN 10699 genome.wustl.edu 37 4 47644044 47644044 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 47644044 47644044 G A SNP CORIN ENST00000273857 human ensembl 70_37 -1 known silent c.2091 p.N697 0.999 superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pirsf_Peptidase_S1A_corin pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 28 20 41.67 39 0 0.00 CORIN 10699 genome.wustl.edu 37 4 47667068 47667068 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 47667068 47667068 C T SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.1570 p.E524K 0.896 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 14 9 39.13 33 0 0.00 CORIN 10699 genome.wustl.edu 37 4 47746544 47746544 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 47746544 47746544 G A SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.674 p.S225L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 232 97 29.48 392 0 0.00 CORO1A 11151 genome.wustl.edu 37 16 30198163 30198163 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 30198163 30198163 G C SNP CORO1A ENST00000219150 human ensembl 70_37 +1 known silent c.348 p.L116 0.598 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 26 8 23.53 58 0 0.00 CORO1B 57175 genome.wustl.edu 37 11 67207593 67207593 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67207593 67207593 C T SNP CORO1B ENST00000341356 human ensembl 70_37 -1 known missense c.1003 p.A335T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 38 11 22.45 89 0 0.00 CORO1B 57175 genome.wustl.edu 37 11 67208821 67208821 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67208821 67208821 G A SNP CORO1B ENST00000341356 human ensembl 70_37 -1 known missense c.619 p.R207W 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 126 45 26.32 215 0 0.00 CORO1C 23603 genome.wustl.edu 37 12 109051199 109051199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 109051199 109051199 C T SNP CORO1C ENST00000420959 human ensembl 70_37 -1 known missense c.790 p.E264K 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 36 7 16.28 45 0 0.00 CORO2A 7464 genome.wustl.edu 37 9 100889065 100889065 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100889065 100889065 C T SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known silent c.1212 p.L404 0.003 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 22 31 58.49 19 0 0.00 CORO2A 7464 genome.wustl.edu 37 9 100890986 100890986 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100890986 100890986 C G SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known missense c.983 p.R328T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 60 23 27.71 32 0 0.00 CORO2A 7464 genome.wustl.edu 37 9 100892173 100892173 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100892173 100892173 C G SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known splice_site c.871-1 e7-1 1.000 - - - no_errors CORO2A HGNC ENSG00000106789 54 25 31.65 54 0 0.00 CORO2A 7464 genome.wustl.edu 37 9 100897207 100897207 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 100897207 100897207 G T SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known missense c.349 p.L117M 0.973 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 46 34 42.50 55 0 0.00 CORO6 84940 genome.wustl.edu 37 17 27943318 27943318 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 27943318 27943318 G A SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known silent c.1041 p.I347 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 35 13 27.08 76 0 0.00 CORO6 84940 genome.wustl.edu 37 17 27943334 27943334 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27943334 27943334 C G SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known missense c.1025 p.R342T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 19 7 26.92 47 0 0.00 CORO6 84940 genome.wustl.edu 37 17 27946167 27946167 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 27946167 27946167 G A SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known missense c.362 p.T121M 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 30 12 28.57 44 0 0.00 CORO7-PAM16 100529144 genome.wustl.edu 37 16 4409516 4409516 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4409516 4409516 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known missense c.2215 p.D739H 1.000 pfam_DUF1900 pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 103 36 25.90 57 0 0.00 CORO7-PAM16 100529144 genome.wustl.edu 37 16 4410478 4410478 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 4410478 4410478 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known silent c.1989 p.V663 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 17 14 45.16 24 0 0.00 CORO7-PAM16 100529144 genome.wustl.edu 37 16 4412623 4412623 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4412623 4412623 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known missense c.1392 p.Q464H 0.990 NULL pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 87 17 16.35 131 0 0.00 CORO7-PAM16 100529144 genome.wustl.edu 37 16 4415047 4415047 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 4415047 4415047 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known silent c.855 p.L285 0.963 pfam_DUF1900 pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 46 15 24.59 54 0 0.00 CORT 1325 genome.wustl.edu 37 1 10510270 10510270 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 10510270 10510270 C T SNP CORT ENST00000320498 human ensembl 70_37 +1 known missense c.140 p.S47L 0.000 NULL pfam_Somatostatin/Cortistatin_C - no_errors CORT HGNC ENSG00000241563 37 15 28.85 41 0 0.00 COTL1 23406 genome.wustl.edu 37 16 84600379 84600379 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 84600379 84600379 G A SNP COTL1 ENST00000567278 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors COTL1 HGNC ENSG00000103187 83 20 19.42 66 0 0.00 COX10 1352 genome.wustl.edu 37 17 14063216 14063216 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 14063216 14063216 C G SNP COX10 ENST00000261643 human ensembl 70_37 +1 known nonsense c.647 p.S216* 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 22 3 12.00 41 0 0.00 COX15 1355 genome.wustl.edu 37 10 101476233 101476233 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101476233 101476233 G C SNP COX15 ENST00000497381 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors COX15 HGNC ENSG00000014919 23 6 20.69 26 0 0.00 COX19 90639 genome.wustl.edu 37 7 1009016 1009017 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1009016 1009017 - T INS COX19 ENST00000344111 human ensembl 70_37 -1 known frame_shift_ins c.271_270 p.*90fs 0.000:0.000 NULL pfam_CHCH,superfamily_MTCP1 - no_errors COX19 HGNC ENSG00000240230 18 4 18.18 36 0 0.00 COX4I1 1327 genome.wustl.edu 37 16 85834864 85834864 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 85834864 85834864 C G SNP COX4I1 ENST00000253452 human ensembl 70_37 +1 known missense c.53 p.S18C 1.000 NULL pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 57 39 40.21 84 0 0.00 COX4I1 1327 genome.wustl.edu 37 16 85839284 85839284 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 85839284 85839284 G A SNP COX4I1 ENST00000569997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors COX4I1 HGNC ENSG00000131143 35 27 43.55 50 0 0.00 COX4I2 84701 genome.wustl.edu 37 20 30226891 30226891 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 30226891 30226891 C G SNP COX4I2 ENST00000376075 human ensembl 70_37 +1 known nonsense c.71 p.S24* 0.929 NULL pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 20 3 13.04 15 0 0.00 COX4I2 84701 genome.wustl.edu 37 20 30232672 30232672 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 30232672 30232672 C T SNP COX4I2 ENST00000376075 human ensembl 70_37 +1 known missense c.481 p.R161C 0.984 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 26 5 16.13 34 0 0.00 COX5A 9377 genome.wustl.edu 37 15 75212768 75212768 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75212768 75212768 C T SNP COX5A ENST00000568783 human ensembl 70_37 -1 putative missense c.355 p.D119N 0.009 NULL pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC ENSG00000178741 20 10 33.33 27 0 0.00 COX5A 9377 genome.wustl.edu 37 15 75219205 75219205 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 75219205 75219205 C T SNP COX5A ENST00000322347 human ensembl 70_37 -1 known missense c.241 p.D81N 1.000 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC ENSG00000178741 16 10 38.46 42 0 0.00 COX5B 1329 genome.wustl.edu 37 2 98262630 98262630 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 98262630 98262630 G C SNP COX5B ENST00000258424 human ensembl 70_37 +1 known silent c.81 p.A27 0.001 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 72 27 27.27 94 0 0.00 COX5B 1329 genome.wustl.edu 37 2 98262630 98262630 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 98262630 98262630 G C SNP COX5B ENST00000258424 human ensembl 70_37 +1 known silent c.81 p.A27 0.001 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 64 23 26.44 70 0 0.00 COX6A1 1337 genome.wustl.edu 37 12 120875972 120875972 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 120875972 120875972 C T SNP COX6A1 ENST00000229379 human ensembl 70_37 +1 known missense c.43 p.R15W 0.045 pirsf_Cyt_c_oxidase_su6a pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a - no_errors COX6A1 HGNC ENSG00000111775 77 27 25.96 115 0 0.00 COX7A2 1347 genome.wustl.edu 37 6 75953513 75953513 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 75953513 75953513 G A SNP COX7A2 ENST00000370081 human ensembl 70_37 -1 known missense c.34 p.P12S 1.000 NULL pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A2 HGNC ENSG00000112695 60 9 13.04 110 0 0.00 COX7A2L 9167 genome.wustl.edu 37 2 42578285 42578285 + RNA SNP A A T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 42578285 42578285 A T SNP COX7A2L ENST00000482463 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors COX7A2L HGNC ENSG00000115944 21 4 16.00 30 0 0.00 COX7A2L 9167 genome.wustl.edu 37 2 42580342 42580342 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 42580342 42580342 C G SNP COX7A2L ENST00000463055 human ensembl 70_37 -1 putative missense c.214 p.D72H 0.012 NULL NULL - no_errors COX7A2L HGNC ENSG00000115944 43 15 25.86 53 0 0.00 COX7B 1349 genome.wustl.edu 37 X 77158374 77158374 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 77158374 77158374 G C SNP COX7B ENST00000475465 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors COX7B HGNC ENSG00000131174 6 7 53.85 9 0 0.00 COX8A 1351 genome.wustl.edu 37 11 63742188 63742188 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 63742188 63742188 G C SNP COX8A ENST00000314133 human ensembl 70_37 +1 known missense c.36 p.L12F 0.669 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8A HGNC ENSG00000176340 37 26 41.27 89 0 0.00 CP 1356 genome.wustl.edu 37 3 148927989 148927989 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 148927989 148927989 G A SNP CP ENST00000264613 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 154 47 23.38 216 0 0.00 CP 1356 genome.wustl.edu 37 3 148928011 148928011 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 148928011 148928011 C T SNP CP ENST00000264613 human ensembl 70_37 -1 known missense c.550 p.D184N 0.998 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 106 37 25.87 100 0 0.00 CPA1 1357 genome.wustl.edu 37 7 130021600 130021600 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 130021600 130021600 G A SNP CPA1 ENST00000011292 human ensembl 70_37 +1 known missense c.277 p.V93M 0.310 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 54 13 19.12 44 0 0.00 CPA1 1357 genome.wustl.edu 37 7 130023300 130023300 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 7 130023300 130023300 C T SNP CPA1 ENST00000011292 human ensembl 70_37 +1 known silent c.552 p.V184 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 78 37 32.17 94 0 0.00 CPA3 1359 genome.wustl.edu 37 3 148596241 148596241 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 148596241 148596241 G T SNP CPA3 ENST00000296046 human ensembl 70_37 +1 known missense c.283 p.D95Y 0.994 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 73 12 14.12 41 0 0.00 CPA4 51200 genome.wustl.edu 37 7 129944388 129944388 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 129944388 129944388 C T SNP CPA4 ENST00000222482 human ensembl 70_37 +1 known missense c.455 p.S152L 0.002 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 52 13 20.00 51 0 0.00 CPA4 51200 genome.wustl.edu 37 7 129962360 129962360 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 129962360 129962360 G T SNP CPA4 ENST00000222482 human ensembl 70_37 +1 known silent c.1110 p.A370 0.002 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 61 37 37.37 97 0 0.00 CPA5 93979 genome.wustl.edu 37 7 129987668 129987668 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 129987668 129987668 G C SNP CPA5 ENST00000355388 human ensembl 70_37 +1 known missense c.178 p.E60Q 0.997 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 40 27 40.30 55 0 0.00 CPA5 93979 genome.wustl.edu 37 7 130008431 130008431 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 130008431 130008431 C A SNP CPA5 ENST00000355388 human ensembl 70_37 +1 known missense c.1304 p.P435H 1.000 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 31 4 11.43 30 0 0.00 CPA6 57094 genome.wustl.edu 37 8 68421816 68421816 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 68421816 68421816 G A SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known missense c.470 p.S157L 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 22 21 48.84 31 0 0.00 CPA6 57094 genome.wustl.edu 37 8 68658352 68658352 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 68658352 68658352 C T SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known missense c.13 p.G5R 0.815 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 18 21 53.85 26 0 0.00 CPA6 57094 genome.wustl.edu 37 8 68658352 68658352 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 68658352 68658352 C T SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known missense c.13 p.G5R 0.815 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 26 8 22.86 34 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17013537 17013537 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 17013537 17013537 C T SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known nonsense c.4748 p.W1583* 0.498 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 59 22 27.16 58 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17039021 17039021 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17039021 17039021 G C SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known silent c.3309 p.S1103 1.000 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 30 20 40.00 44 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17086050 17086050 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 17086050 17086050 C T SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known missense c.2068 p.D690N 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 43 47 52.22 90 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17088210 17088210 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 17088210 17088210 G A SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known nonsense c.1867 p.Q623* 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 24 15 38.46 43 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17108023 17108023 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 17108023 17108023 G A SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known silent c.1134 p.V378 0.999 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 14 15 51.72 18 0 0.00 CPAMD8 27151 genome.wustl.edu 37 19 17132955 17132955 + Silent SNP C C G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 17132955 17132955 C G SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known silent c.270 p.A90 0.362 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 29 24 45.28 35 0 0.00 CPB1 1360 genome.wustl.edu 37 3 148577823 148577823 + RNA SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 148577823 148577823 C G SNP CPB1 ENST00000476847 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CPB1 HGNC ENSG00000153002 37 13 26.00 62 0 0.00 CPB2 1361 genome.wustl.edu 37 13 46627829 46627829 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 46627829 46627829 C T SNP CPB2 ENST00000181383 human ensembl 70_37 -1 known missense c.1192 p.E398K 0.024 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 46 6 11.54 29 0 0.00 CPB2 1361 genome.wustl.edu 37 13 46638848 46638848 + Missense_Mutation SNP A A C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 13 46638848 46638848 A C SNP CPB2 ENST00000181383 human ensembl 70_37 -1 known missense c.731 p.F244C 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 37 23 38.33 78 0 0.00 CPB2 1361 genome.wustl.edu 37 13 46658397 46658397 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 13 46658397 46658397 C T SNP CPB2 ENST00000181383 human ensembl 70_37 -1 known missense c.232 p.D78N 0.004 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 106 43 28.86 285 0 0.00 CPD 1362 genome.wustl.edu 37 17 28783348 28783348 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 28783348 28783348 C T SNP CPD ENST00000225719 human ensembl 70_37 +1 known missense c.3412 p.P1138S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 27 3 10.00 50 0 0.00 CPE 1363 genome.wustl.edu 37 4 166403452 166403452 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 166403452 166403452 C A SNP CPE ENST00000402744 human ensembl 70_37 +1 known missense c.731 p.S244Y 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 20 4 16.67 31 0 0.00 CPEB1 64506 genome.wustl.edu 37 15 83224721 83224721 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 83224721 83224721 C G SNP CPEB1 ENST00000562019 human ensembl 70_37 -1 known missense c.758 p.R253T 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 15 14 48.28 37 0 0.00 CPEB1 64506 genome.wustl.edu 37 15 83226522 83226522 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 83226522 83226522 G C SNP CPEB1 ENST00000562019 human ensembl 70_37 -1 known silent c.594 p.L198 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 17 6 26.09 28 0 0.00 CPEB2 132864 genome.wustl.edu 37 4 15004504 15004504 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 15004504 15004504 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known silent c.207 p.L69 0.900 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 12 5 29.41 21 0 0.00 CPEB2 132864 genome.wustl.edu 37 4 15004565 15004565 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15004565 15004565 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known nonsense c.268 p.Q90* 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 14 8 36.36 12 0 0.00 CPEB2 132864 genome.wustl.edu 37 4 15009019 15009019 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 15009019 15009019 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known missense c.1753 p.H585Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 56 19 25.33 76 0 0.00 CPEB3 22849 genome.wustl.edu 37 10 93904785 93904785 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 93904785 93904785 G A SNP CPEB3 ENST00000265997 human ensembl 70_37 -1 known missense c.1280 p.P427L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 22 5 18.52 21 0 0.00 CPEB3 22849 genome.wustl.edu 37 10 93999172 93999172 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 93999172 93999172 G C SNP CPEB3 ENST00000265997 human ensembl 70_37 -1 known silent c.936 p.L312 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 76 10 11.63 93 0 0.00 CPEB4 80315 genome.wustl.edu 37 5 173317425 173317425 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 173317425 173317425 C G SNP CPEB4 ENST00000265085 human ensembl 70_37 +1 known nonsense c.689 p.S230* 0.956 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 78 15 16.13 104 0 0.00 CPEB4 80315 genome.wustl.edu 37 5 173317731 173317731 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 173317731 173317731 C T SNP CPEB4 ENST00000265085 human ensembl 70_37 +1 known missense c.995 p.S332L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 16 18 52.94 37 0 0.00 CPEB4 80315 genome.wustl.edu 37 5 173383211 173383211 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 173383211 173383211 C T SNP CPEB4 ENST00000519467 human ensembl 70_37 +1 known rna NULL NULL 0.366 - - - no_errors CPEB4 HGNC ENSG00000113742 24 6 20.00 28 0 0.00 CPED1 79974 genome.wustl.edu 37 7 120691043 120691043 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 120691043 120691043 C T SNP CPED1 ENST00000495036 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors CPED1 HGNC ENSG00000106034 22 8 26.67 39 0 0.00 CPED1 79974 genome.wustl.edu 37 7 120691213 120691213 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 120691213 120691213 G A SNP CPED1 ENST00000495036 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CPED1 HGNC ENSG00000106034 27 17 38.64 45 0 0.00 CPED1 79974 genome.wustl.edu 37 7 120764400 120764400 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 120764400 120764400 G C SNP CPED1 ENST00000310396 human ensembl 70_37 +1 known missense c.934 p.E312Q 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 83 14 14.43 82 0 0.00 CPED1 79974 genome.wustl.edu 37 7 120768478 120768478 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 120768478 120768478 G C SNP CPED1 ENST00000310396 human ensembl 70_37 +1 known missense c.1345 p.E449Q 0.999 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 14 4 22.22 25 0 0.00 CPED1 79974 genome.wustl.edu 37 7 120906364 120906364 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 120906364 120906364 G T SNP CPED1 ENST00000310396 human ensembl 70_37 +1 known missense c.2394 p.Q798H 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 16 3 15.79 73 0 0.00 CPLX1 10815 genome.wustl.edu 37 4 780459 780459 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 780459 780459 C T SNP CPLX1 ENST00000304062 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 24 29 54.72 61 0 0.00 CPLX1 10815 genome.wustl.edu 37 4 786358 786358 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 786358 786358 C G SNP CPLX1 ENST00000304062 human ensembl 70_37 -1 known missense c.70 p.E24Q 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 60 47 43.93 60 0 0.00 CPLX4 339302 genome.wustl.edu 37 18 56964111 56964111 + Missense_Mutation SNP T T G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 56964111 56964111 T G SNP CPLX4 ENST00000299721 human ensembl 70_37 -1 known missense c.302 p.D101A 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 94 11 10.48 107 0 0.00 CPLX4 339302 genome.wustl.edu 37 18 56985653 56985653 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 56985653 56985653 C A SNP CPLX4 ENST00000299721 human ensembl 70_37 -1 known missense c.42 p.K14N 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 14 10 41.67 47 0 0.00 CPN1 1369 genome.wustl.edu 37 10 101802222 101802222 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101802222 101802222 C G SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.1339 p.E447Q 0.000 NULL pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 19 3 13.64 27 0 0.00 CPN1 1369 genome.wustl.edu 37 10 101808556 101808556 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101808556 101808556 C G SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.1189 p.E397Q 0.002 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 149 44 22.80 183 0 0.00 CPN1 1369 genome.wustl.edu 37 10 101835718 101835718 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 101835718 101835718 G C SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.370 p.H124D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 38 26 40.62 72 0 0.00 CPN2 1370 genome.wustl.edu 37 3 194062052 194062052 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 194062052 194062052 G C SNP CPN2 ENST00000323830 human ensembl 70_37 -1 known missense c.1380 p.D460E 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 38 10 20.83 40 0 0.00 CPNE1 8904 genome.wustl.edu 37 20 34213974 34213974 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34213974 34213974 C T SNP CPNE1 ENST00000498814 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors CPNE1 HGNC ENSG00000214078 8 9 52.94 17 0 0.00 CPNE1 8904 genome.wustl.edu 37 20 34219869 34219869 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 20 34219869 34219869 C T SNP CPNE1 ENST00000317677 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE1 HGNC ENSG00000214078 23 13 36.11 32 0 0.00 CPNE3 8895 genome.wustl.edu 37 8 87552517 87552517 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 87552517 87552517 C G SNP CPNE3 ENST00000198765 human ensembl 70_37 +1 known missense c.588 p.I196M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE3 HGNC ENSG00000085719 156 29 15.68 171 1 0.58 CPNE3 8895 genome.wustl.edu 37 8 87559984 87559984 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 87559984 87559984 C T SNP CPNE3 ENST00000198765 human ensembl 70_37 +1 known nonsense c.865 p.Q289* 1.000 smart_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE3 HGNC ENSG00000085719 27 7 20.59 45 0 0.00 CPNE4 131034 genome.wustl.edu 37 3 131253882 131253883 + RNA INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 131253882 131253883 - A INS CPNE4 ENST00000503204 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors CPNE4 HGNC ENSG00000196353 11 22 66.67 14 0 0.00 CPNE4 131034 genome.wustl.edu 37 3 131293956 131293956 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 131293956 131293956 A C SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known missense c.940 p.F314V 1.000 NULL pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC ENSG00000196353 74 15 16.85 86 0 0.00 CPNE4 131034 genome.wustl.edu 37 3 131404727 131404727 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 131404727 131404727 G A SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known nonsense c.637 p.R213* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC ENSG00000196353 32 7 17.95 29 0 0.00 CPNE4 131034 genome.wustl.edu 37 3 131624203 131624203 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 131624203 131624203 G A SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known missense c.139 p.R47C 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC ENSG00000196353 33 16 32.65 17 0 0.00 CPNE4 131034 genome.wustl.edu 37 3 131756537 131756537 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 131756537 131756537 G C SNP CPNE4 ENST00000506687 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CPNE4 HGNC ENSG00000196353 13 10 43.48 12 0 0.00 CPNE6 9362 genome.wustl.edu 37 14 24545480 24545480 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 24545480 24545480 G A SNP CPNE6 ENST00000537691 human ensembl 70_37 +1 known silent c.1212 p.Q404 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 79 10 11.11 79 0 0.00 CPNE6 9362 genome.wustl.edu 37 14 24545487 24545487 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 24545487 24545487 G C SNP CPNE6 ENST00000537691 human ensembl 70_37 +1 known missense c.1219 p.D407H 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 41 5 10.87 38 0 0.00 CPNE7 27132 genome.wustl.edu 37 16 89645291 89645291 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 89645291 89645291 C T SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known silent c.384 p.V128 0.001 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 28 20 41.67 63 0 0.00 CPNE7 27132 genome.wustl.edu 37 16 89650445 89650445 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 89650445 89650445 G A SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known missense c.667 p.E223K 1.000 smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 18 21 53.85 29 0 0.00 CPNE7 27132 genome.wustl.edu 37 16 89650455 89650455 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 89650455 89650455 C T SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known missense c.677 p.S226L 1.000 smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 45 5 10.00 65 0 0.00 CPNE8 144402 genome.wustl.edu 37 12 39301163 39301163 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 39301163 39301163 G A SNP CPNE8 ENST00000360449 human ensembl 70_37 -1 putative missense c.20 p.S7L 0.000 NULL pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 13 9 40.91 19 0 0.00 CPO 130749 genome.wustl.edu 37 2 207804333 207804333 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 207804333 207804333 C T SNP CPO ENST00000272852 human ensembl 70_37 +1 known silent c.10 p.L4 0.011 NULL pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 74 30 28.85 68 0 0.00 CPO 130749 genome.wustl.edu 37 2 207823079 207823079 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207823079 207823079 C A SNP CPO ENST00000272852 human ensembl 70_37 +1 known missense c.322 p.H108N 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 21 5 19.23 57 0 0.00 CPPED1 55313 genome.wustl.edu 37 16 12758794 12758794 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 12758794 12758794 C G SNP CPPED1 ENST00000381774 human ensembl 70_37 -1 known silent c.894 p.L298 0.997 NULL pfam_Metallo_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 61 8 11.59 37 0 0.00 CPPED1 55313 genome.wustl.edu 37 16 12798556 12798556 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 12798556 12798556 C T SNP CPPED1 ENST00000381774 human ensembl 70_37 -1 known missense c.640 p.D214N 0.235 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 106 32 23.19 136 0 0.00 CPQ 10404 genome.wustl.edu 37 8 97797327 97797327 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 97797327 97797327 G A SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.202 p.A68T 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 8 13 61.90 34 0 0.00 CPQ 10404 genome.wustl.edu 37 8 97847330 97847330 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 97847330 97847330 C T SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.563 p.T188M 0.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 68 18 20.93 76 0 0.00 CPQ 10404 genome.wustl.edu 37 8 97892112 97892112 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 97892112 97892112 C T SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.728 p.S243L 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 59 16 21.05 38 0 0.00 CPQ 10404 genome.wustl.edu 37 8 98041688 98041688 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 98041688 98041688 G C SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.1019 p.G340A 0.584 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 18 8 30.77 32 0 0.00 CPS1 1373 genome.wustl.edu 37 2 211421548 211421548 + Missense_Mutation SNP T T A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 211421548 211421548 T A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known missense c.109 p.F37I 0.902 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 14 7 33.33 32 0 0.00 CPS1 1373 genome.wustl.edu 37 2 211447406 211447406 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211447406 211447406 G A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known silent c.612 p.Q204 1.000 superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 47 23 32.86 107 0 0.00 CPS1 1373 genome.wustl.edu 37 2 211467045 211467045 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 211467045 211467045 C T SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known silent c.1845 p.L615 0.646 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 13 10 43.48 41 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145619868 145619868 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 8 145619868 145619868 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.3558 p.I1186 0.941 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 71 23 24.47 86 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145620684 145620684 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 145620684 145620684 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.3062 p.T1021M 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 62 12 16.22 66 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145622829 145622829 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145622829 145622829 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.2258 p.S753F 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 67 21 23.86 61 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145623321 145623321 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145623321 145623321 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1921 p.D641H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 21 7 25.00 19 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145624185 145624185 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 145624185 145624185 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1622 p.P541L 0.003 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 84 14 14.29 105 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145624235 145624235 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145624235 145624235 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.1572 p.V524 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 87 29 24.79 33 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145624241 145624241 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145624241 145624241 C T SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.1566 p.Q522 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 80 28 25.93 29 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145624707 145624707 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 145624707 145624707 C T SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1351 p.E451K 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 71 11 13.41 46 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145624722 145624722 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 145624722 145624722 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1336 p.E446Q 0.999 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 28 7 20.00 49 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145625203 145625203 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145625203 145625203 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1087 p.D363H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 14 2 12.50 15 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145625597 145625597 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145625597 145625597 G C SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.900 p.L300 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 38 9 19.15 23 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145625874 145625874 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 145625874 145625874 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.700 p.R234W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 14 6 30.00 17 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145626076 145626076 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145626076 145626076 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.675 p.Q225H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 24 10 29.41 39 0 0.00 CPSF1 29894 genome.wustl.edu 37 8 145626433 145626433 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145626433 145626433 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.424 p.R142W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 16 5 23.81 34 0 0.00 CPSF2 53981 genome.wustl.edu 37 14 92608640 92608640 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92608640 92608640 C T SNP CPSF2 ENST00000298875 human ensembl 70_37 +1 known missense c.794 p.S265L 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 31 36 53.73 80 0 0.00 CPSF2 53981 genome.wustl.edu 37 14 92625343 92625343 + Nonsense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 92625343 92625343 C G SNP CPSF2 ENST00000298875 human ensembl 70_37 +1 known nonsense c.1838 p.S613* 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 5 5 50.00 12 0 0.00 CPSF3 51692 genome.wustl.edu 37 2 9568944 9568944 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 9568944 9568944 G A SNP CPSF3 ENST00000238112 human ensembl 70_37 +1 known missense c.101 p.G34E 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 69 30 30.30 59 0 0.00 CPSF3L 54973 genome.wustl.edu 37 1 1252786 1252786 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 1252786 1252786 G A SNP CPSF3L ENST00000462432 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors CPSF3L HGNC ENSG00000127054 50 10 16.67 42 0 0.00 CPSF3L 54973 genome.wustl.edu 37 1 1255873 1255873 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 1255873 1255873 C T SNP CPSF3L ENST00000540437 human ensembl 70_37 -1 known missense c.181 p.G61S 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 74 46 38.33 92 0 0.00 CPSF3L 54973 genome.wustl.edu 37 1 1256019 1256019 + Nonstop_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1256019 1256019 C G SNP CPSF3L ENST00000531019 human ensembl 70_37 -1 known nonstop c.170 p.*57S 0.030 NULL NULL - no_errors CPSF3L HGNC ENSG00000127054 17 5 22.73 36 0 0.00 CPSF4 10898 genome.wustl.edu 37 7 99036745 99036745 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 7 99036745 99036745 G A SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known missense c.40 p.D14N 1.000 NULL pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 21 6 22.22 25 0 0.00 CPSF4 10898 genome.wustl.edu 37 7 99036754 99036754 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 99036754 99036754 A G SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known missense c.49 p.I17V 1.000 NULL pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 3 14 82.35 19 0 0.00 CPSF4 10898 genome.wustl.edu 37 7 99042428 99042428 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 99042428 99042428 C T SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known silent c.120 p.V40 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 31 11 26.19 45 0 0.00 CPSF4 10898 genome.wustl.edu 37 7 99051700 99051700 + Nonsense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 99051700 99051700 C T SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known nonsense c.682 p.Q228* 1.000 superfamily_Znf_CCHC pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 149 75 33.48 271 0 0.00 CPSF6 11052 genome.wustl.edu 37 12 69650495 69650495 + Silent SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 69650495 69650495 T C SNP CPSF6 ENST00000266679 human ensembl 70_37 +1 known silent c.393 p.V131 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 50 11 18.03 78 0 0.00 CPSF6 11052 genome.wustl.edu 37 12 69656167 69656167 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 69656167 69656167 G C SNP CPSF6 ENST00000266679 human ensembl 70_37 +1 known missense c.1595 p.R532T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 44 15 25.42 58 0 0.00 CPSF7 79869 genome.wustl.edu 37 11 61178432 61178432 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 61178432 61178432 G A SNP CPSF7 ENST00000340437 human ensembl 70_37 -1 known missense c.1528 p.R510W 0.968 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 279 56 16.67 349 0 0.00 CPSF7 79869 genome.wustl.edu 37 11 61183222 61183222 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61183222 61183222 C T SNP CPSF7 ENST00000340437 human ensembl 70_37 -1 known missense c.1129 p.E377K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 26 18 40.91 33 0 0.00 CPT1A 1374 genome.wustl.edu 37 11 68522294 68522294 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68522294 68522294 G C SNP CPT1A ENST00000376618 human ensembl 70_37 -1 known nonsense c.2261 p.S754* 0.000 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 188 25 11.74 53 0 0.00 CPT1A 1374 genome.wustl.edu 37 11 68529068 68529068 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 68529068 68529068 G A SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known missense c.1963 p.R655C 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 54 11 16.92 57 0 0.00 CPT1A 1374 genome.wustl.edu 37 11 68562339 68562339 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68562339 68562339 C G SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known missense c.812 p.R271T 0.888 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 151 39 20.53 41 0 0.00 CPT1A 1374 genome.wustl.edu 37 11 68579947 68579947 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 68579947 68579947 G A SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known missense c.239 p.S80L 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 22 42 65.62 78 0 0.00 CPT1B 1375 genome.wustl.edu 37 22 51009456 51009456 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 51009456 51009456 T C SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known missense c.1892 p.D631G 0.257 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 39 24 38.10 40 0 0.00 CPT1B 1375 genome.wustl.edu 37 22 51014666 51014666 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 51014666 51014666 C T SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known silent c.660 p.Q220 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 20 4 16.67 50 0 0.00 CPT1B 1375 genome.wustl.edu 37 22 51015042 51015042 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 22 51015042 51015042 G A SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known missense c.484 p.R162W 0.998 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 21 3 12.50 26 0 0.00 CPT1B 1375 genome.wustl.edu 37 22 51016307 51016307 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 51016307 51016307 G A SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known missense c.38 p.T13M 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 39 25 39.06 70 0 0.00 CPT1C 126129 genome.wustl.edu 37 19 50203982 50203982 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 19 50203982 50203982 C T SNP CPT1C ENST00000323446 human ensembl 70_37 +1 known missense c.323 p.A108V 0.026 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 18 9 33.33 27 0 0.00 CPT1C 126129 genome.wustl.edu 37 19 50204795 50204795 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 50204795 50204795 C T SNP CPT1C ENST00000323446 human ensembl 70_37 +1 known silent c.597 p.F199 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 27 6 17.65 37 0 0.00 CPT2 1376 genome.wustl.edu 37 1 53675983 53675983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53675983 53675983 G C SNP CPT2 ENST00000371486 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 8 10 55.56 17 0 0.00 CPVL 54504 genome.wustl.edu 37 7 29105687 29105687 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 29105687 29105687 G A SNP CPVL ENST00000265394 human ensembl 70_37 -1 known silent c.915 p.F305 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 23 13 36.11 19 0 0.00 CPVL 54504 genome.wustl.edu 37 7 29111989 29111989 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 29111989 29111989 G C SNP CPVL ENST00000265394 human ensembl 70_37 -1 known silent c.660 p.L220 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 30 14 31.82 51 0 0.00 CPVL 54504 genome.wustl.edu 37 7 29126135 29126135 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 29126135 29126135 C T SNP CPVL ENST00000265394 human ensembl 70_37 -1 known missense c.574 p.E192K 1.000 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 14 22 61.11 46 0 0.00 CPXCR1 53336 genome.wustl.edu 37 X 88008861 88008861 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 88008861 88008861 G A SNP CPXCR1 ENST00000276127 human ensembl 70_37 +1 known missense c.446 p.R149K 0.072 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 69 28 28.87 88 0 0.00 CPXCR1 53336 genome.wustl.edu 37 X 88009171 88009171 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 88009171 88009171 T G SNP CPXCR1 ENST00000276127 human ensembl 70_37 +1 known silent c.756 p.G252 0.057 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 37 29 43.94 79 0 0.00 CPXM1 56265 genome.wustl.edu 37 20 2777278 2777278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2777278 2777278 C G SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known missense c.940 p.E314Q 0.997 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 82 59 41.84 111 0 0.00 CPXM1 56265 genome.wustl.edu 37 20 2777278 2777278 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 2777278 2777278 C A SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known nonsense c.940 p.E314* 0.997 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 40 6 13.04 29 0 0.00 CPXM1 56265 genome.wustl.edu 37 20 2777944 2777944 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2777944 2777944 G T SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known silent c.726 p.L242 0.914 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 24 22 47.83 74 0 0.00 CPXM2 119587 genome.wustl.edu 37 10 125506281 125506281 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 125506281 125506281 C T SNP CPXM2 ENST00000241305 human ensembl 70_37 -1 known silent c.2270 p.*757 0.374 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 16 10 38.46 14 0 0.00 CPXM2 119587 genome.wustl.edu 37 10 125539727 125539727 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 125539727 125539727 C T SNP CPXM2 ENST00000241305 human ensembl 70_37 -1 known missense c.934 p.D312N 0.996 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 50 41 45.05 110 0 0.00 CPZ 8532 genome.wustl.edu 37 4 8603131 8603131 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 8603131 8603131 G A SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.403 p.A135T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 44 22 33.33 113 0 0.00 CPZ 8532 genome.wustl.edu 37 4 8607757 8607757 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 8607757 8607757 G A SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.751 p.E251K 1.000 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 22 26 54.17 42 0 0.00 CPZ 8532 genome.wustl.edu 37 4 8608555 8608555 + Missense_Mutation SNP A A G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 4 8608555 8608555 A G SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.998 p.Y333C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 52 29 35.80 76 0 0.00 CPZ 8532 genome.wustl.edu 37 4 8609103 8609103 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 8609103 8609103 C G SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.1178 p.S393C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 51 15 22.73 99 0 0.00 CR1 1378 genome.wustl.edu 37 1 207697066 207697066 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 207697066 207697066 G A SNP CR1 ENST00000367049 human ensembl 70_37 +1 known missense c.598 p.G200R 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 127 19 13.01 124 0 0.00 CR1 1378 genome.wustl.edu 37 1 207697084 207697084 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 207697084 207697084 G C SNP CR1 ENST00000367049 human ensembl 70_37 +1 known missense c.616 p.E206Q 0.012 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 70 17 19.54 69 0 0.00 CR1 1378 genome.wustl.edu 37 1 207780600 207780600 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207780600 207780600 C T SNP CR1 ENST00000367049 human ensembl 70_37 +1 known nonsense c.5815 p.R1939* 0.771 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 62 49 44.14 211 0 0.00 CR1 1378 genome.wustl.edu 37 1 207785320 207785320 + Missense_Mutation SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 207785320 207785320 A G SNP CR1 ENST00000367049 human ensembl 70_37 +1 known missense c.6509 p.H2170R 0.728 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 524 70 11.74 591 1 0.17 CR1L 1379 genome.wustl.edu 37 1 207871117 207871117 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 207871117 207871117 G A SNP CR1L ENST00000508064 human ensembl 70_37 +1 known silent c.1041 p.V347 0.039 pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 164 49 23.00 205 0 0.00 CR1L 1379 genome.wustl.edu 37 1 207881609 207881609 + Splice_Site SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 207881609 207881609 G A SNP CR1L ENST00000508064 human ensembl 70_37 +1 known splice_site c.1414+1 e10+1 0.444 - - - no_errors CR1L HGNC ENSG00000197721 117 18 13.33 164 0 0.00 CR1L 1379 genome.wustl.edu 37 1 207884022 207884022 + RNA SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207884022 207884022 T A SNP CR1L ENST00000530905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CR1L HGNC ENSG00000197721 67 20 22.99 113 0 0.00 CR1L 1379 genome.wustl.edu 37 1 207890923 207890923 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 207890923 207890923 G C SNP CR1L ENST00000508064 human ensembl 70_37 +1 known missense c.1529 p.R510T 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 108 13 10.57 128 0 0.00 CR2 1380 genome.wustl.edu 37 1 207642171 207642171 + Frame_Shift_Del DEL T T - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 207642171 207642171 T - DEL CR2 ENST00000367057 human ensembl 70_37 +1 known frame_shift_del c.661 p.N223fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 13 2 13.33 43 0 0.00 CR2 1380 genome.wustl.edu 37 1 207643042 207643042 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 207643042 207643042 A T SNP CR2 ENST00000367057 human ensembl 70_37 +1 known missense c.820 p.I274F 1.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 17 11 39.29 19 0 0.00 CR2 1380 genome.wustl.edu 37 1 207644373 207644373 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 207644373 207644373 C A SNP CR2 ENST00000367057 human ensembl 70_37 +1 known silent c.1434 p.L478 0.133 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 125 17 11.97 101 1 0.98 CR2 1380 genome.wustl.edu 37 1 207648498 207648498 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 207648498 207648498 C T SNP CR2 ENST00000367057 human ensembl 70_37 +1 known missense c.2653 p.R885C 0.120 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 63 13 16.88 72 0 0.00 CRAMP1L 57585 genome.wustl.edu 37 16 1664952 1664952 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 1664952 1664952 C T SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.312 p.S104 0.962 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 60 18 23.08 32 0 0.00 CRAMP1L 57585 genome.wustl.edu 37 16 1676140 1676140 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1676140 1676140 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.513 p.K171 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 47 12 20.34 44 0 0.00 CRAMP1L 57585 genome.wustl.edu 37 16 1718140 1718140 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 1718140 1718140 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known missense c.3280 p.A1094T 0.560 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 21 6 22.22 19 0 0.00 CRAMP1L 57585 genome.wustl.edu 37 16 1720687 1720687 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 1720687 1720687 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.3522 p.K1174 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 38 16 29.63 65 0 0.00 CRAMP1L 57585 genome.wustl.edu 37 16 1723911 1723911 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 1723911 1723911 G T SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known missense c.3675 p.M1225I 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 81 42 34.15 68 0 0.00 CRAT 1384 genome.wustl.edu 37 9 131869987 131869987 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131869987 131869987 C T SNP CRAT ENST00000393384 human ensembl 70_37 -1 putative missense c.397 p.E133K 0.001 NULL pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 16 6 27.27 19 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197237592 197237592 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 197237592 197237592 C T SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.50 p.S17L 0.175 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 87 11 11.22 204 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197297588 197297588 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 197297588 197297588 C G SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known nonsense c.107 p.S36* 0.849 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 29 12 29.27 37 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197313486 197313487 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 197313486 197313487 - G INS CRB1 ENST00000367400 human ensembl 70_37 +1 known frame_shift_ins c.728_729 p.A245fs 0.000:0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 68 38 35.85 88 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197326066 197326066 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 197326066 197326066 G A SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.1094 p.R365H 0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 47 25 34.72 63 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197390187 197390187 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 197390187 197390187 G A SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.1229 p.G410D 0.998 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 98 60 37.97 226 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197396583 197396583 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 197396583 197396583 G C SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known splice_site c.2129-1 e7-1 1.000 - - - no_errors CRB1 HGNC ENSG00000134376 107 28 20.74 104 0 0.00 CRB1 23418 genome.wustl.edu 37 1 197404045 197404045 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 197404045 197404045 T C SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.3052 p.F1018L 0.004 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 32 4 11.11 42 0 0.00 CRB2 286204 genome.wustl.edu 37 9 126125380 126125380 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 126125380 126125380 G C SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known missense c.331 p.E111Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 24 7 22.58 56 0 0.00 CRB2 286204 genome.wustl.edu 37 9 126132812 126132812 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 126132812 126132812 C T SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known nonsense c.1480 p.Q494* 0.786 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 23 10 30.30 41 0 0.00 CRB2 286204 genome.wustl.edu 37 9 126132855 126132855 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 126132855 126132855 G C SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known missense c.1523 p.R508T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 34 12 26.09 52 0 0.00 CRBN 51185 genome.wustl.edu 37 3 3215804 3215804 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 3215804 3215804 C T SNP CRBN ENST00000231948 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 24 34 58.62 67 0 0.00 CRCP 27297 genome.wustl.edu 37 7 65617276 65617276 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65617276 65617276 G C SNP CRCP ENST00000395326 human ensembl 70_37 +1 known missense c.379 p.E127Q 0.249 superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 22 7 24.14 27 0 0.00 CRCP 27297 genome.wustl.edu 37 7 65617299 65617299 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65617299 65617299 G C SNP CRCP ENST00000395326 human ensembl 70_37 +1 known missense c.402 p.K134N 0.000 NULL pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 20 5 20.00 25 0 0.00 CREB1 1385 genome.wustl.edu 37 2 208434952 208434952 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 208434952 208434952 G C SNP CREB1 ENST00000432329 human ensembl 70_37 +1 known missense c.454 p.E152Q 1.000 pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 42 10 19.23 39 0 0.00 CREB1 1385 genome.wustl.edu 37 2 208440097 208440097 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 208440097 208440097 C T SNP CREB1 ENST00000432329 human ensembl 70_37 +1 known missense c.649 p.P217S 1.000 NULL pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 33 4 10.81 45 0 0.00 CREB1 1385 genome.wustl.edu 37 2 208461841 208461841 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 208461841 208461841 G A SNP CREB1 ENST00000494983 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CREB1 HGNC ENSG00000118260 5 10 66.67 15 0 0.00 CREB1 1385 genome.wustl.edu 37 2 208462088 208462088 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 208462088 208462088 G A SNP CREB1 ENST00000494983 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CREB1 HGNC ENSG00000118260 12 4 25.00 19 0 0.00 CREB3 10488 genome.wustl.edu 37 9 35736237 35736237 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 35736237 35736237 C T SNP CREB3 ENST00000353704 human ensembl 70_37 +1 known missense c.710 p.S237F 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 45 18 28.57 39 0 0.00 CREB3L1 90993 genome.wustl.edu 37 11 46329438 46329438 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 46329438 46329438 G C SNP CREB3L1 ENST00000288400 human ensembl 70_37 +1 known missense c.403 p.E135Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 15 44 73.33 99 0 0.00 CREB3L2 64764 genome.wustl.edu 37 7 137567265 137567265 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 137567265 137567265 G A SNP CREB3L2 ENST00000330387 human ensembl 70_37 -1 known silent c.1380 p.L460 0.229 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 23 3 11.54 31 0 0.00 CREB3L2 64764 genome.wustl.edu 37 7 137567330 137567330 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 137567330 137567330 C T SNP CREB3L2 ENST00000330387 human ensembl 70_37 -1 known missense c.1315 p.E439K 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 15 10 40.00 20 0 0.00 CREB3L3 84699 genome.wustl.edu 37 19 4157158 4157158 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 4157158 4157158 C T SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.323 p.T108I 0.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 73 16 17.78 92 0 0.00 CREB3L3 84699 genome.wustl.edu 37 19 4157289 4157289 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 4157289 4157289 C A SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.454 p.L152M 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 45 5 10.00 50 0 0.00 CREB3L3 84699 genome.wustl.edu 37 19 4168383 4168383 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4168383 4168383 A C SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.750 p.K250N 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 14 4 22.22 15 0 0.00 CREB3L4 148327 genome.wustl.edu 37 1 153941559 153941559 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 153941559 153941559 C T SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known missense c.328 p.P110S 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 32 6 15.79 42 0 0.00 CREB3L4 148327 genome.wustl.edu 37 1 153941905 153941905 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 153941905 153941905 G A SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known missense c.517 p.V173I 0.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 54 8 12.90 104 0 0.00 CREB3L4 148327 genome.wustl.edu 37 1 153946137 153946137 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153946137 153946137 C T SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known silent c.939 p.F313 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 41 26 38.81 67 0 0.00 CREB5 9586 genome.wustl.edu 37 7 28534554 28534554 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28534554 28534554 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.106 p.H36Y 1.000 pirsf_TF_cAMP-dep,pfscan_Znf_C2H2 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 28 26 46.43 38 0 0.00 CREB5 9586 genome.wustl.edu 37 7 28843919 28843919 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 28843919 28843919 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.806 p.T269M 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 43 18 29.51 77 0 0.00 CREB5 9586 genome.wustl.edu 37 7 28843972 28843972 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 28843972 28843972 C A SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.859 p.H287N 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 32 5 13.51 35 0 0.00 CREB5 9586 genome.wustl.edu 37 7 28844035 28844035 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 28844035 28844035 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known nonsense c.922 p.Q308* 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 82 65 44.22 118 0 0.00 CREB5 9586 genome.wustl.edu 37 7 28848933 28848933 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 28848933 28848933 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.1156 p.R386W 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 20 18 47.37 23 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3778628 3778628 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 3778628 3778628 C T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.6420 p.Q2140 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 23 5 17.86 31 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3779771 3779771 + Silent SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 3779771 3779771 T A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.5277 p.P1759 0.987 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 38 13 25.49 71 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3781798 3781798 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3781798 3781798 G T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.4869 p.A1623 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 35 4 10.26 28 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3786138 3786138 + Missense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 3786138 3786138 C G SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4627 p.D1543H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 46 31 40.26 83 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3786748 3786748 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 3786748 3786748 G C SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4463 p.P1488R 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 123 35 22.01 97 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3786798 3786798 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 3786798 3786798 G C SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4413 p.I1471M 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 80 10 11.11 76 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3788618 3788618 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 3788618 3788618 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4336 p.R1446C 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 12 13 52.00 47 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3794922 3794922 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 3794922 3794922 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3955 p.R1319* 0.990 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 63 18 21.95 52 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3799625 3799626 + Splice_Site INS - - A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 3799625 3799626 - A INS CREBBP ENST00000262367 human ensembl 70_37 -1 known splice_site_ins c.3836+2_3836+1 e21+2 1.000:1.000 - - - no_errors CREBBP HGNC ENSG00000005339 40 23 36.51 49 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3801726 3801726 + Splice_Site SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 3801726 3801726 C T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known splice_site c.3779+1 e20+1 1.000 - - - no_errors CREBBP HGNC ENSG00000005339 16 28 63.64 63 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3817784 3817784 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3817784 3817784 C A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3187 p.E1063* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 105 45 30.00 157 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3817799 3817799 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3817799 3817799 C A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3172 p.E1058* 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 99 46 31.29 149 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900422 3900422 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3900422 3900422 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.674 p.P225L 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 38 10 20.83 25 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900422 3900422 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3900422 3900422 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.674 p.P225L 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 91 20 17.86 93 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900459 3900459 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 3900459 3900459 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.637 p.L213F 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 81 27 25.00 126 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900710 3900710 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3900710 3900710 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.386 p.S129L 0.997 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 30 32 51.61 65 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900710 3900710 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 3900710 3900710 G T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.386 p.S129* 0.997 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 30 28 48.28 44 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900884 3900884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3900884 3900884 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.212 p.S71L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 12 3 20.00 13 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3900914 3900914 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 16 3900914 3900914 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.182 p.P61L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 52 27 34.18 81 0 0.00 CREBBP 1387 genome.wustl.edu 37 16 3901001 3901001 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3901001 3901001 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.95 p.S32L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 22 12 35.29 21 0 0.00 CREBRF 153222 genome.wustl.edu 37 5 172518062 172518062 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 172518062 172518062 G C SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 26 7 21.21 19 0 0.00 CREBRF 153222 genome.wustl.edu 37 5 172518197 172518197 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 172518197 172518197 C G SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.1015 p.L339V 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 32 17 34.69 45 0 0.00 CREBRF 153222 genome.wustl.edu 37 5 172518290 172518290 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 172518290 172518290 G A SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.1108 p.D370N 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 65 9 12.16 60 0 0.00 CREBZF 58487 genome.wustl.edu 37 11 85371271 85371271 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 85371271 85371271 C T SNP CREBZF ENST00000531515 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors CREBZF HGNC ENSG00000137504 13 34 72.34 42 0 0.00 CREBZF 58487 genome.wustl.edu 37 11 85371510 85371510 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 85371510 85371510 G C SNP CREBZF ENST00000531515 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CREBZF HGNC ENSG00000137504 12 8 40.00 16 0 0.00 CREBZF 58487 genome.wustl.edu 37 11 85375024 85375024 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 85375024 85375024 G C SNP CREBZF ENST00000525639 human ensembl 70_37 -1 known missense c.896 p.S299W 1.000 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 107 35 24.65 142 0 0.00 CREBZF 58487 genome.wustl.edu 37 11 85375525 85375525 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 85375525 85375525 G A SNP CREBZF ENST00000525639 human ensembl 70_37 -1 known missense c.395 p.S132L 1.000 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 28 13 30.95 46 0 0.00 CREG2 200407 genome.wustl.edu 37 2 102000165 102000165 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 102000165 102000165 C G SNP CREG2 ENST00000324768 human ensembl 70_37 -1 known splice_site c.442-1 e2-1 1.000 - - - no_errors CREG2 HGNC ENSG00000175874 23 21 47.73 42 0 0.00 CRELD1 78987 genome.wustl.edu 37 3 9984502 9984502 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 9984502 9984502 G C SNP CRELD1 ENST00000326434 human ensembl 70_37 +1 known missense c.739 p.D247H 0.998 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like_Ca-bd pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 27 6 18.18 40 0 0.00 CREM 1390 genome.wustl.edu 37 10 35456676 35456677 + Frame_Shift_Del DEL TA TA - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 10 35456676 35456677 TA - DEL CREM ENST00000395887 human ensembl 70_37 +1 known frame_shift_del c.23_24 p.C9fs 1.000:1.000 NULL pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 53 74 58.27 147 0 0.00 CREM 1390 genome.wustl.edu 37 10 35456683 35456683 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 35456683 35456683 C T SNP CREM ENST00000395887 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 62 60 49.18 139 0 0.00 CREM 1390 genome.wustl.edu 37 10 35460216 35460216 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 35460216 35460216 C T SNP CREM ENST00000497686 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CREM HGNC ENSG00000095794 42 21 33.33 18 0 0.00 CREM 1390 genome.wustl.edu 37 10 35500776 35500776 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 35500776 35500776 G A SNP CREM ENST00000469517 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CREM HGNC ENSG00000095794 27 13 31.71 45 0 0.00 CRH 1392 genome.wustl.edu 37 8 67089290 67089290 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 67089290 67089290 G C SNP CRH ENST00000276571 human ensembl 70_37 -1 known silent c.423 p.L141 0.039 NULL pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF - no_errors CRH HGNC ENSG00000147571 14 7 33.33 21 0 0.00 CRHBP 1393 genome.wustl.edu 37 5 76251689 76251689 + Splice_Site SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 76251689 76251689 G A SNP CRHBP ENST00000274368 human ensembl 70_37 +1 known splice_site c.544+1 e4+1 1.000 - - - no_errors CRHBP HGNC ENSG00000145708 17 6 26.09 31 0 0.00 CRHR1 1394 genome.wustl.edu 37 17 43907534 43907534 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 43907534 43907534 T C SNP CRHR1 ENST00000398285 human ensembl 70_37 +1 known missense c.596 p.F199S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 36 12 25.00 30 0 0.00 CRHR1 1394 genome.wustl.edu 37 17 43908278 43908278 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43908278 43908278 A G SNP CRHR1 ENST00000398285 human ensembl 70_37 +1 known missense c.829 p.I277V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 15 11 42.31 33 0 0.00 CRHR1-IT1 147081 genome.wustl.edu 37 17 43713654 43713654 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43713654 43713654 C T SNP CRHR1-IT1 ENST00000455565 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors CRHR1-IT1 HGNC ENSG00000204650 17 19 52.78 36 0 0.00 CRHR1-IT1 147081 genome.wustl.edu 37 17 43713847 43713847 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 43713847 43713847 C T SNP CRHR1-IT1 ENST00000455565 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors CRHR1-IT1 HGNC ENSG00000204650 19 4 17.39 18 0 0.00 CRHR1-IT1 147081 genome.wustl.edu 37 17 43725080 43725080 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 43725080 43725080 C G SNP CRHR1-IT1 ENST00000589868 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRHR1-IT1 HGNC ENSG00000204650 49 11 18.33 49 0 0.00 CRHR2 1395 genome.wustl.edu 37 7 30704803 30704803 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 30704803 30704803 C T SNP CRHR2 ENST00000348438 human ensembl 70_37 -1 known silent c.507 p.R169 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC ENSG00000106113 33 4 10.81 56 0 0.00 CRHR2 1395 genome.wustl.edu 37 7 30721614 30721614 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 30721614 30721614 G A SNP CRHR2 ENST00000348438 human ensembl 70_37 -1 known missense c.227 p.T76M 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC ENSG00000106113 84 39 31.45 142 0 0.00 CRHR2 1395 genome.wustl.edu 37 7 30721797 30721797 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 30721797 30721797 C T SNP CRHR2 ENST00000471646 human ensembl 70_37 -1 known missense c.100 p.E34K 0.984 pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF2_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC ENSG00000106113 6 9 60.00 16 0 0.00 CRIM1 51232 genome.wustl.edu 37 2 36739535 36739535 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 36739535 36739535 G C SNP CRIM1 ENST00000280527 human ensembl 70_37 +1 known missense c.1778 p.R593T 1.000 superfamily_Prot_inh_I14/15_hirudin/antisn pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 34 7 17.07 42 0 0.00 CRIM1 51232 genome.wustl.edu 37 2 36775709 36775709 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 36775709 36775709 G A SNP CRIM1 ENST00000280527 human ensembl 70_37 +1 known silent c.2976 p.K992 1.000 NULL pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 50 22 30.56 42 0 0.00 CRISP1 167 genome.wustl.edu 37 6 49814315 49814315 + Missense_Mutation SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 49814315 49814315 A G SNP CRISP1 ENST00000335847 human ensembl 70_37 -1 known missense c.353 p.V118A 0.118 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 48 45 48.39 56 0 0.00 CRISP2 7180 genome.wustl.edu 37 6 49663612 49663612 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 49663612 49663612 T C SNP CRISP2 ENST00000339139 human ensembl 70_37 -1 known missense c.541 p.T181A 0.096 superfamily_CAP_domain pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC ENSG00000124490 15 13 46.43 29 0 0.00 CRISP2 7180 genome.wustl.edu 37 6 49665598 49665598 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 49665598 49665598 A C SNP CRISP2 ENST00000339139 human ensembl 70_37 -1 known missense c.490 p.Y164D 0.898 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC ENSG00000124490 18 5 21.74 37 0 0.00 CRISPLD1 83690 genome.wustl.edu 37 8 75898286 75898286 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 75898286 75898286 C T SNP CRISPLD1 ENST00000262207 human ensembl 70_37 +1 known missense c.64 p.P22S 0.504 superfamily_CAP_domain pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 29 10 25.64 46 0 0.00 CRISPLD1 83690 genome.wustl.edu 37 8 75925233 75925233 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 75925233 75925233 C T SNP CRISPLD1 ENST00000517786 human ensembl 70_37 +1 putative missense c.44 p.A15V 0.729 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors CRISPLD1 HGNC ENSG00000121005 19 9 32.14 56 0 0.00 CRISPLD1 83690 genome.wustl.edu 37 8 75944458 75944458 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 75944458 75944458 G C SNP CRISPLD1 ENST00000262207 human ensembl 70_37 +1 known missense c.1484 p.R495T 1.000 superfamily_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 68 23 25.27 93 0 0.00 CRISPLD2 83716 genome.wustl.edu 37 16 84900605 84900605 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 84900605 84900605 G T SNP CRISPLD2 ENST00000262424 human ensembl 70_37 +1 known missense c.812 p.R271I 0.417 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 29 15 34.09 33 0 0.00 CRK 1398 genome.wustl.edu 37 17 1326754 1326755 + RNA INS - - A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 17 1326754 1326755 - A INS CRK ENST00000572145 human ensembl 70_37 -1 known rna NULL NULL 0.637:0.352 - - - no_errors CRK HGNC ENSG00000167193 36 5 12.20 37 0 0.00 CRK 1398 genome.wustl.edu 37 17 1326941 1326941 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 1326941 1326941 C T SNP CRK ENST00000300574 human ensembl 70_37 -1 known missense c.781 p.G261S 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRK HGNC ENSG00000167193 31 4 11.43 55 0 0.00 CRLF1 9244 genome.wustl.edu 37 19 18704914 18704914 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18704914 18704914 C A SNP CRLF1 ENST00000392386 human ensembl 70_37 -1 known nonsense c.1216 p.E406* 1.000 NULL pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 56 21 27.27 50 0 0.00 CRLF1 9244 genome.wustl.edu 37 19 18705208 18705208 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18705208 18705208 C T SNP CRLF1 ENST00000392386 human ensembl 70_37 -1 known missense c.1061 p.R354Q 1.000 NULL pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 13 7 35.00 11 0 0.00 CRLF2 64109 genome.wustl.edu 37 X 1315003 1315003 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 1315003 1315003 C G SNP CRLF2 ENST00000381567 human ensembl 70_37 -1 known missense c.658 p.E220Q 0.003 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 198 81 28.93 270 0 0.00 CRLF2 64109 genome.wustl.edu 37 X 1331584 1331584 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 1331584 1331584 C G SNP CRLF2 ENST00000467626 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CRLF2 HGNC ENSG00000205755 64 32 32.99 98 0 0.00 CRLF3 51379 genome.wustl.edu 37 17 29111235 29111235 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 29111235 29111235 G C SNP CRLF3 ENST00000324238 human ensembl 70_37 -1 known missense c.1299 p.F433L 0.992 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 57 8 12.31 70 0 0.00 CRLF3 51379 genome.wustl.edu 37 17 29111327 29111327 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 29111327 29111327 G A SNP CRLF3 ENST00000324238 human ensembl 70_37 -1 known nonsense c.1207 p.R403* 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 23 20 46.51 72 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5827529 5827530 + RNA INS - - AT TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5827529 5827530 - AT INS CRMP1 ENST00000513911 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CRMP1 HGNC ENSG00000072832 6 2 25.00 21 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5830265 5830265 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 5830265 5830265 C T SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.1754 p.R585Q 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 64 15 18.99 120 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5830336 5830336 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5830336 5830336 G A SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known silent c.1683 p.I561 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 75 26 25.74 101 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5844878 5844878 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 5844878 5844878 C A SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.974 p.R325L 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 23 4 14.81 41 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5858007 5858007 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5858007 5858007 G C SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.683 p.S228C 0.769 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 59 16 21.33 80 0 0.00 CRMP1 1400 genome.wustl.edu 37 4 5862760 5862760 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5862760 5862760 C G SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known silent c.648 p.T216 0.993 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 75 19 20.21 98 0 0.00 CRNKL1 51340 genome.wustl.edu 37 20 20024178 20024178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 20024178 20024178 G C SNP CRNKL1 ENST00000377340 human ensembl 70_37 -1 known missense c.1413 p.I471M 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 194 54 21.77 253 0 0.00 CRNKL1 51340 genome.wustl.edu 37 20 20033073 20033073 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 20033073 20033073 C T SNP CRNKL1 ENST00000377340 human ensembl 70_37 -1 known missense c.397 p.E133K 0.004 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 31 29 48.33 42 0 0.00 CRNN 49860 genome.wustl.edu 37 1 152382129 152382129 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152382129 152382129 C A SNP CRNN ENST00000271835 human ensembl 70_37 -1 known nonsense c.1429 p.E477* 0.002 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC ENSG00000143536 127 28 15.91 155 1 0.64 CRNN 49860 genome.wustl.edu 37 1 152382132 152382132 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152382132 152382132 C T SNP CRNN ENST00000271835 human ensembl 70_37 -1 known missense c.1426 p.E476K 0.022 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC ENSG00000143536 52 21 28.77 64 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17257074 17257074 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 17257074 17257074 G C SNP CROCC ENST00000375541 human ensembl 70_37 +1 known missense c.834 p.W278C 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 20 4 16.67 29 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17265601 17265601 + Frame_Shift_Del DEL C C - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 1 17265601 17265601 C - DEL CROCC ENST00000375541 human ensembl 70_37 +1 known frame_shift_del c.1572 p.H525fs 0.999 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 10 2 16.67 50 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17273258 17273258 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17273258 17273258 G T SNP CROCC ENST00000375541 human ensembl 70_37 +1 known silent c.2286 p.L762 0.998 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 61 8 11.59 57 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17275495 17275495 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17275495 17275495 C T SNP CROCC ENST00000488646 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CROCC HGNC ENSG00000058453 31 32 50.79 66 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17277294 17277294 + RNA SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 17277294 17277294 G A SNP CROCC ENST00000488646 human ensembl 70_37 +1 known rna NULL NULL 0.839 - - - no_errors CROCC HGNC ENSG00000058453 7 5 41.67 23 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17279959 17279959 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 17279959 17279959 G C SNP CROCC ENST00000375541 human ensembl 70_37 +1 known missense c.3169 p.E1057Q 0.994 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 32 7 17.95 38 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17280578 17280578 + RNA SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 17280578 17280578 T C SNP CROCC ENST00000494191 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CROCC HGNC ENSG00000058453 7 7 50.00 12 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17282522 17282522 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 17282522 17282522 G A SNP CROCC ENST00000375541 human ensembl 70_37 +1 known silent c.3735 p.Q1245 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 15 33 68.75 25 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17285209 17285209 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 17285209 17285209 G A SNP CROCC ENST00000375541 human ensembl 70_37 +1 known silent c.3996 p.L1332 0.929 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 2 5 71.43 13 0 0.00 CROCC 9696 genome.wustl.edu 37 1 17292290 17292290 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 17292290 17292290 C T SNP CROCC ENST00000375541 human ensembl 70_37 +1 known missense c.4478 p.P1493L 0.983 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 14 12 46.15 59 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 16945182 16945184 AAT - DEL CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.018:0.018 - - - no_errors CROCCP2 HGNC ENSG00000215908 10 8 44.44 9 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC ENSG00000215908 4 4 50.00 9 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC ENSG00000215908 13 5 27.78 17 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16945294 16945294 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 16945294 16945294 C T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.136 - - - no_errors CROCCP2 HGNC ENSG00000215908 20 4 16.67 22 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16945760 16945760 + RNA SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 16945760 16945760 A G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 22 4 15.38 17 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16946090 16946090 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 16946090 16946090 T C SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 44 12 21.43 19 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16946164 16946164 + RNA SNP A A G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 16946164 16946164 A G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 5 35.71 9 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 15 5 25.00 13 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16946492 16946492 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 16946492 16946492 C T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 138 23 14.29 181 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956844 16956844 + RNA SNP T T C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 16956844 16956844 T C SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.556 - - - no_errors CROCCP2 HGNC ENSG00000215908 42 6 12.50 53 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956889 16956892 + RNA DEL CAGA CAGA - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 16956889 16956892 CAGA - DEL CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.064:0.065:0.068:0.074 - - - no_errors CROCCP2 HGNC ENSG00000215908 21 3 12.50 23 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956946 16956946 + RNA SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 16956946 16956946 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors CROCCP2 HGNC ENSG00000215908 11 4 26.67 9 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956946 16956946 + RNA SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 16956946 16956946 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors CROCCP2 HGNC ENSG00000215908 10 4 28.57 14 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956993 16956993 + RNA SNP A A G TCGA-C5-A2LY-01A-31D-A18J-09 TCGA-C5-A2LY-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 047f9e4d-86b5-4943-aef5-68199bf29e8c 433b41e8-d79a-4da0-a700-821cd97cc1b9 1 16956993 16956993 A G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CROCCP2 HGNC ENSG00000215908 3 3 50.00 16 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956993 16956993 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16956993 16956993 A G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CROCCP2 HGNC ENSG00000215908 6 3 33.33 12 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16956993 16956993 + RNA SNP A A G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 16956993 16956993 A G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CROCCP2 HGNC ENSG00000215908 11 3 21.43 15 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16957475 16957475 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 16957475 16957475 G A SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors CROCCP2 HGNC ENSG00000215908 56 23 29.11 127 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16959697 16959697 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 16959697 16959697 C T SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.846 - - - no_errors CROCCP2 HGNC ENSG00000215908 102 17 14.29 93 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16959698 16959698 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16959698 16959698 G A SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.766 - - - no_errors CROCCP2 HGNC ENSG00000215908 18 4 18.18 21 0 0.00 CROCCP2 84809 genome.wustl.edu 37 1 16959769 16959769 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 16959769 16959769 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors CROCCP2 HGNC ENSG00000215908 105 18 14.52 236 0 0.00 CROCCP3 114819 genome.wustl.edu 37 1 16804831 16804831 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 16804831 16804831 C T SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 80 35 30.43 124 1 0.80 CROCCP3 114819 genome.wustl.edu 37 1 16809787 16809787 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 16809787 16809787 C G SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors CROCCP3 HGNC ENSG00000080947 68 26 27.66 96 0 0.00 CROCCP3 114819 genome.wustl.edu 37 1 16812997 16812997 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16812997 16812997 C T SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 36 13 26.53 43 0 0.00 CROT 54677 genome.wustl.edu 37 7 87011272 87011272 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87011272 87011272 T C SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1025 p.V342A 0.995 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 17 11 39.29 52 0 0.00 CROT 54677 genome.wustl.edu 37 7 87022120 87022120 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 87022120 87022120 G T SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1579 p.D527Y 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 33 4 10.81 51 0 0.00 CROT 54677 genome.wustl.edu 37 7 87022372 87022372 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 87022372 87022372 C G SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1707 p.I569M 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 30 6 16.67 33 0 0.00 CRTAC1 55118 genome.wustl.edu 37 10 99625445 99625445 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 10 99625445 99625445 G - DEL CRTAC1 ENST00000370597 human ensembl 70_37 -1 known frame_shift_del c.1846 p.R616fs 0.838 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC ENSG00000095713 10 3 23.08 17 0 0.00 CRTAC1 55118 genome.wustl.edu 37 10 99677323 99677323 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 99677323 99677323 C T SNP CRTAC1 ENST00000370597 human ensembl 70_37 -1 known missense c.649 p.D217N 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC ENSG00000095713 18 14 43.75 52 0 0.00 CRTAC1 55118 genome.wustl.edu 37 10 99770902 99770902 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 99770902 99770902 C T SNP CRTAC1 ENST00000370597 human ensembl 70_37 -1 known missense c.217 p.V73M 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC ENSG00000095713 22 3 12.00 23 0 0.00 CRTAM 56253 genome.wustl.edu 37 11 122722543 122722543 + Silent SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 122722543 122722543 G C SNP CRTAM ENST00000227348 human ensembl 70_37 +1 known silent c.336 p.V112 0.156 pfam_Ig_V-set,smart_Ig_sub pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CRTAM HGNC ENSG00000109943 11 21 65.62 68 0 0.00 CRTC1 23373 genome.wustl.edu 37 19 18853807 18853807 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18853807 18853807 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.214 p.G72R 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 52 27 34.18 67 0 0.00 CRTC1 23373 genome.wustl.edu 37 19 18853808 18853808 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18853808 18853808 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.215 p.G72E 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 50 27 34.62 66 0 0.00 CRTC1 23373 genome.wustl.edu 37 19 18857921 18857921 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18857921 18857921 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.488 p.R163K 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 41 23 35.94 62 0 0.00 CRTC1 23373 genome.wustl.edu 37 19 18879564 18879564 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18879564 18879564 G C SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.1329 p.E443D 0.968 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 14 6 30.00 19 0 0.00 CRTC2 200186 genome.wustl.edu 37 1 153920586 153920586 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 153920586 153920586 C T SNP CRTC2 ENST00000368633 human ensembl 70_37 -1 known silent c.2081 p.*694 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 40 15 27.27 35 0 0.00 CRTC2 200186 genome.wustl.edu 37 1 153927568 153927568 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 153927568 153927568 C G SNP CRTC2 ENST00000368633 human ensembl 70_37 -1 known missense c.228 p.Q76H 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 28 14 33.33 66 0 0.00 CRTC2 200186 genome.wustl.edu 37 1 153930904 153930904 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153930904 153930904 C T SNP CRTC2 ENST00000368633 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 56 9 13.85 68 0 0.00 CRTC3 64784 genome.wustl.edu 37 15 91083312 91083312 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 91083312 91083312 C T SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known silent c.174 p.Y58 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 40 5 11.11 34 0 0.00 CRTC3 64784 genome.wustl.edu 37 15 91141768 91141768 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91141768 91141768 G T SNP CRTC3 ENST00000561290 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CRTC3 HGNC ENSG00000140577 15 19 55.88 23 0 0.00 CRTC3 64784 genome.wustl.edu 37 15 91141793 91141793 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91141793 91141793 G A SNP CRTC3 ENST00000561290 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CRTC3 HGNC ENSG00000140577 19 16 45.71 19 0 0.00 CRTC3 64784 genome.wustl.edu 37 15 91161147 91161147 + Missense_Mutation SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 91161147 91161147 A G SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known missense c.646 p.N216D 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 25 18 41.86 32 0 0.00 CRTC3 64784 genome.wustl.edu 37 15 91181971 91181971 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 91181971 91181971 C T SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known missense c.1472 p.S491L 0.447 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 31 24 43.64 79 0 0.00 CRX 1406 genome.wustl.edu 37 19 48337769 48337769 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 48337769 48337769 G T SNP CRX ENST00000221996 human ensembl 70_37 +1 known silent c.69 p.V23 1.000 superfamily_Homeodomain-like pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC ENSG00000105392 33 4 10.81 31 0 0.00 CRX 1406 genome.wustl.edu 37 19 48342779 48342779 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 48342779 48342779 C T SNP CRX ENST00000221996 human ensembl 70_37 +1 known missense c.455 p.S152F 0.857 NULL pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC ENSG00000105392 48 18 27.27 95 0 0.00 CRX 1406 genome.wustl.edu 37 19 48343087 48343087 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48343087 48343087 G A SNP CRX ENST00000221996 human ensembl 70_37 +1 known missense c.763 p.G255S 0.992 NULL pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC ENSG00000105392 63 16 20.25 53 0 0.00 CRX 1406 genome.wustl.edu 37 19 48343195 48343195 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 48343195 48343195 C G SNP CRX ENST00000221996 human ensembl 70_37 +1 known missense c.871 p.Q291E 1.000 NULL pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC ENSG00000105392 25 6 19.35 11 0 0.00 CRY1 1407 genome.wustl.edu 37 12 107391157 107391157 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 107391157 107391157 C G SNP CRY1 ENST00000008527 human ensembl 70_37 -1 known silent c.1500 p.L500 1.000 NULL pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 219 63 22.34 256 0 0.00 CRY1 1407 genome.wustl.edu 37 12 107391306 107391306 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 107391306 107391306 C T SNP CRY1 ENST00000008527 human ensembl 70_37 -1 known missense c.1452 p.M484I 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 39 20 33.90 60 0 0.00 CRY2 1408 genome.wustl.edu 37 11 45869177 45869177 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 45869177 45869177 G A SNP CRY2 ENST00000443527 human ensembl 70_37 +1 known missense c.199 p.G67R 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 9 7 43.75 13 0 0.00 CRYAA 1409 genome.wustl.edu 37 21 44590668 44590668 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 44590668 44590668 G A SNP CRYAA ENST00000291554 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 38 5 11.63 44 0 0.00 CRYBA2 1412 genome.wustl.edu 37 2 219855001 219855001 + Silent SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 219855001 219855001 C A SNP CRYBA2 ENST00000295728 human ensembl 70_37 -1 known silent c.567 p.L189 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 31 13 29.55 66 0 0.00 CRYBA4 1413 genome.wustl.edu 37 22 27019213 27019213 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 27019213 27019213 G A SNP CRYBA4 ENST00000354760 human ensembl 70_37 +1 known missense c.55 p.E19K 0.406 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 48 27 36.00 54 0 0.00 CRYBB2P1 1416 genome.wustl.edu 37 22 25855390 25855390 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 25855390 25855390 G A SNP CRYBB2P1 ENST00000354451 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CRYBB2P1 HGNC ENSG00000100058 36 23 38.98 80 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97596165 97596165 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 97596165 97596165 G C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.283 p.E95Q 0.997 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 134 21 13.55 121 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97596184 97596184 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 97596184 97596184 T C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.302 p.V101A 0.697 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 17 3 15.00 27 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97596225 97596225 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 97596225 97596225 G C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.343 p.D115H 0.906 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 117 25 17.61 158 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97652615 97652615 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 97652615 97652615 G C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known silent c.2475 p.V825 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 15 20 57.14 36 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97655689 97655689 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 97655689 97655689 G A SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known silent c.2598 p.E866 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 69 22 24.18 119 0 0.00 CRYBG3 131544 genome.wustl.edu 37 3 97660064 97660064 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 97660064 97660064 A G SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.2734 p.T912A 0.005 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 46 6 11.54 46 0 0.00 CRYGA 1418 genome.wustl.edu 37 2 209025710 209025710 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 209025710 209025710 G T SNP CRYGA ENST00000304502 human ensembl 70_37 -1 known missense c.343 p.L115M 0.729 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 33 4 10.81 39 0 0.00 CRYGB 1419 genome.wustl.edu 37 2 209007482 209007482 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 209007482 209007482 C T SNP CRYGB ENST00000260988 human ensembl 70_37 -1 known silent c.408 p.E136 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 187 58 23.67 241 0 0.00 CRYGB 1419 genome.wustl.edu 37 2 209010507 209010507 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 209010507 209010507 G A SNP CRYGB ENST00000260988 human ensembl 70_37 -1 known silent c.243 p.L81 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 70 56 44.44 111 0 0.00 CRYGC 1420 genome.wustl.edu 37 2 208993004 208993004 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 208993004 208993004 C G SNP CRYGC ENST00000282141 human ensembl 70_37 -1 known missense c.448 p.E150Q 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 4 40 90.91 46 0 0.00 CRYGD 1421 genome.wustl.edu 37 2 208986568 208986568 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 208986568 208986568 G A SNP CRYGD ENST00000264376 human ensembl 70_37 -1 known silent c.354 p.F118 0.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 27 6 18.18 48 0 0.00 CRYGD 1421 genome.wustl.edu 37 2 208988953 208988953 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 208988953 208988953 G C SNP CRYGD ENST00000264376 human ensembl 70_37 -1 known silent c.135 p.L45 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 148 21 12.43 125 0 0.00 CRYGN 155051 genome.wustl.edu 37 7 151135048 151135048 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151135048 151135048 G T SNP CRYGN ENST00000491928 human ensembl 70_37 -1 known missense c.304 p.P102T 0.000 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGN HGNC ENSG00000127377 22 12 35.29 57 0 0.00 CRYGS 1427 genome.wustl.edu 37 3 186262102 186262102 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 186262102 186262102 C G SNP CRYGS ENST00000307944 human ensembl 70_37 -1 known missense c.14 p.G5A 0.985 superfamily_G_crystallin-rel pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC ENSG00000213139 64 23 26.44 68 0 0.00 CRYL1 51084 genome.wustl.edu 37 13 20978341 20978341 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 20978341 20978341 G T SNP CRYL1 ENST00000298248 human ensembl 70_37 -1 known missense c.887 p.A296D 0.915 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 36 4 10.00 27 0 0.00 CRYL1 51084 genome.wustl.edu 37 13 21006309 21006309 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 21006309 21006309 C T SNP CRYL1 ENST00000298248 human ensembl 70_37 -1 known missense c.565 p.E189K 1.000 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 52 25 32.47 84 0 0.00 CRYM-AS1 400508 genome.wustl.edu 37 16 21328281 21328281 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 21328281 21328281 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 266 189 41.36 477 1 0.21 CRYM-AS1 400508 genome.wustl.edu 37 16 21328281 21328281 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 21328281 21328281 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 54 35 39.33 44 0 0.00 CRYM-AS1 400508 genome.wustl.edu 37 16 21328903 21328903 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 21328903 21328903 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 40 17 29.82 40 0 0.00 CRYZ 1429 genome.wustl.edu 37 1 75172054 75172054 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 75172054 75172054 C T SNP CRYZ ENST00000340866 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 32 15 31.91 58 0 0.00 CRYZ 1429 genome.wustl.edu 37 1 75172972 75172973 + RNA DEL AT AT - TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 75172972 75172973 AT - DEL CRYZ ENST00000492102 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors CRYZ HGNC ENSG00000116791 12 10 45.45 11 0 0.00 CRYZ 1429 genome.wustl.edu 37 1 75175917 75175917 + Silent SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 75175917 75175917 T A SNP CRYZ ENST00000340866 human ensembl 70_37 -1 known silent c.495 p.A165 0.942 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 17 8 32.00 18 0 0.00 CRYZL1 9946 genome.wustl.edu 37 21 34969645 34969645 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 34969645 34969645 C T SNP CRYZL1 ENST00000381554 human ensembl 70_37 -1 known missense c.739 p.D247N 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 131 15 10.20 130 0 0.00 CS 1431 genome.wustl.edu 37 12 56693956 56693956 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 56693956 56693956 G C SNP CS ENST00000351328 human ensembl 70_37 -1 known silent c.30 p.L10 1.000 NULL pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk - no_errors CS HGNC ENSG00000062485 42 7 14.29 37 0 0.00 CSAD 51380 genome.wustl.edu 37 12 53553493 53553493 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 53553493 53553493 C A SNP CSAD ENST00000267085 human ensembl 70_37 -1 known nonsense c.1303 p.E435* 0.996 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CSAD HGNC ENSG00000139631 27 21 43.75 34 0 0.00 CSAG1 158511 genome.wustl.edu 37 X 151908883 151908883 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 151908883 151908883 G A SNP CSAG1 ENST00000370287 human ensembl 70_37 +1 known missense c.122 p.R41Q 0.015 NULL NULL - no_errors CSAG1 HGNC ENSG00000198930 136 45 24.86 175 1 0.56 CSAG4 100130935 genome.wustl.edu 37 X 151896142 151896142 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 151896142 151896142 G A SNP CSAG4 ENST00000361201 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 11 5 31.25 21 0 0.00 YBX3 8531 genome.wustl.edu 37 12 10854632 10854632 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 10854632 10854632 C A SNP CSDA ENST00000228251 human ensembl 70_37 -1 known missense c.980 p.R327L 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors CSDA HGNC ENSG00000060138 32 14 30.43 84 0 0.00 YBX3 8531 genome.wustl.edu 37 12 10862601 10862601 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10862601 10862601 C T SNP CSDA ENST00000228251 human ensembl 70_37 -1 known missense c.686 p.R229H 0.998 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors CSDA HGNC ENSG00000060138 44 16 26.67 56 0 0.00 CSDE1 7812 genome.wustl.edu 37 1 115277086 115277086 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 115277086 115277086 G A SNP CSDE1 ENST00000369530 human ensembl 70_37 -1 known nonsense c.604 p.Q202* 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 62 28 31.11 135 0 0.00 CSDE1 7812 genome.wustl.edu 37 1 115292556 115292556 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 115292556 115292556 G C SNP CSDE1 ENST00000524652 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CSDE1 HGNC ENSG00000009307 17 11 39.29 40 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47689161 47689161 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47689161 47689161 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.993 p.K331 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 54 15 21.74 41 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47691354 47691354 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47691354 47691354 G C SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known missense c.1099 p.E367Q 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 63 12 16.00 117 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47691377 47691377 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 47691377 47691377 G C SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known missense c.1122 p.L374F 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 55 9 14.06 36 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47691934 47691934 + Silent SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 47691934 47691934 C A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.1212 p.I404 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 28 17 37.78 35 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47701908 47701908 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 47701908 47701908 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known missense c.1708 p.E570K 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 23 7 23.33 21 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47707558 47707558 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 47707558 47707558 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.2364 p.K788 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 44 15 25.42 32 0 0.00 CSE1L 1434 genome.wustl.edu 37 20 47712752 47712752 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47712752 47712752 G A SNP CSE1L ENST00000469700 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CSE1L HGNC ENSG00000124207 25 10 28.57 28 0 0.00 CSF1 1435 genome.wustl.edu 37 1 110466722 110466722 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 110466722 110466722 C T SNP CSF1 ENST00000329608 human ensembl 70_37 +1 known silent c.1479 p.L493 0.004 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 28 21 42.86 64 0 0.00 CSF1R 1436 genome.wustl.edu 37 5 149450125 149450125 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149450125 149450125 G T SNP CSF1R ENST00000543093 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.203 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CSF1R HGNC ENSG00000182578 35 33 48.53 78 0 0.00 CSF1R 1436 genome.wustl.edu 37 5 149453030 149453030 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 149453030 149453030 C G SNP CSF1R ENST00000286301 human ensembl 70_37 -1 known missense c.916 p.E306Q 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors CSF1R HGNC ENSG00000182578 148 39 20.86 205 0 0.00 CSF2 1437 genome.wustl.edu 37 5 131409528 131409528 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 5 131409528 131409528 G A SNP CSF2 ENST00000296871 human ensembl 70_37 +1 known silent c.12 p.Q4 0.997 NULL pfam_GM_colony-stim-fac,superfamily_4_helix_cytokine-like_core,smart_GM_colony-stim-fac,prints_GM_colony-stim-fac - no_errors CSF2 HGNC ENSG00000164400 33 46 57.50 63 0 0.00 CSF2RB 1439 genome.wustl.edu 37 22 37330014 37330014 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 22 37330014 37330014 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known silent c.1311 p.A437 0.002 superfamily_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 74 64 46.38 55 0 0.00 CSF2RB 1439 genome.wustl.edu 37 22 37333842 37333842 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 37333842 37333842 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known silent c.2010 p.G670 0.001 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 10 16 61.54 16 0 0.00 CSF2RB 1439 genome.wustl.edu 37 22 37334311 37334311 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 22 37334311 37334311 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known missense c.2479 p.D827N 0.888 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 80 26 24.53 195 0 0.00 CSF2RB 1439 genome.wustl.edu 37 22 37334480 37334480 + Missense_Mutation SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 22 37334480 37334480 T C SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known missense c.2648 p.L883P 1.000 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 79 12 13.19 58 0 0.00 CSF3R 1441 genome.wustl.edu 37 1 36932371 36932371 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 36932371 36932371 C G SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.2179 p.E727Q 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 14 15 51.72 55 0 0.00 CSF3R 1441 genome.wustl.edu 37 1 36933545 36933545 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 36933545 36933545 G A SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.1742 p.S581F 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 47 22 31.88 65 0 0.00 CSF3R 1441 genome.wustl.edu 37 1 36937198 36937198 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36937198 36937198 G T SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.1121 p.S374Y 0.807 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 38 29 43.28 87 0 0.00 CSGALNACT1 55790 genome.wustl.edu 37 8 19316060 19316060 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 19316060 19316060 C G SNP CSGALNACT1 ENST00000311540 human ensembl 70_37 -1 known missense c.728 p.R243P 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 64 13 16.67 93 0 0.00 CSGALNACT1 55790 genome.wustl.edu 37 8 19363168 19363168 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 19363168 19363168 C T SNP CSGALNACT1 ENST00000311540 human ensembl 70_37 -1 known missense c.178 p.V60I 0.001 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 49 19 27.54 56 0 0.00 CSGALNACT2 55454 genome.wustl.edu 37 10 43650859 43650859 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 43650859 43650859 G C SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known missense c.262 p.E88Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 26 12 31.58 55 0 0.00 CSGALNACT2 55454 genome.wustl.edu 37 10 43654206 43654206 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 43654206 43654206 C G SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known silent c.705 p.L235 0.824 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 16 19 54.29 27 0 0.00 CSGALNACT2 55454 genome.wustl.edu 37 10 43655971 43655972 + Frame_Shift_Ins INS - - TCATCTCA TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 43655971 43655972 - TCATCTCA INS CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known frame_shift_ins c.908_909 p.T306fs 1.000:0.999 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 43 8 15.69 90 0 0.00 CSGALNACT2 55454 genome.wustl.edu 37 10 43678974 43678974 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 43678974 43678974 G T SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known missense c.1613 p.S538I 0.956 NULL pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 29 16 35.56 74 0 0.00 CSH1 1442 genome.wustl.edu 37 17 61972547 61972547 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 61972547 61972547 C G SNP CSH1 ENST00000316193 human ensembl 70_37 -1 known missense c.489 p.Q163H 0.392 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 101 32 24.06 227 0 0.00 CSH1 1442 genome.wustl.edu 37 17 61972703 61972703 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61972703 61972703 G A SNP CSH1 ENST00000329882 human ensembl 70_37 -1 putative missense c.586 p.R196C 0.003 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 55 25 31.25 92 0 0.00 CSH2 1443 genome.wustl.edu 37 17 61950693 61950693 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 61950693 61950693 C T SNP CSH2 ENST00000392886 human ensembl 70_37 -1 known missense c.17 p.R6Q 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH2 HGNC ENSG00000213218 34 7 17.07 42 0 0.00 CSHL1 1444 genome.wustl.edu 37 17 61987643 61987643 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 61987643 61987643 C T SNP CSHL1 ENST00000309894 human ensembl 70_37 -1 known missense c.350 p.R117Q 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 99 28 22.05 104 0 0.00 CSHL1 1444 genome.wustl.edu 37 17 61987643 61987643 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 61987643 61987643 C T SNP CSHL1 ENST00000309894 human ensembl 70_37 -1 known missense c.350 p.R117Q 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 45 85 65.38 75 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 2796226 2796226 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 2796226 2796226 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.10579 p.E3527K 1.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 23 10 30.30 27 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 2813245 2813245 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 8 2813245 2813245 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.9863 p.R3288T 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 37 17 31.48 54 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 2836248 2836248 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 2836248 2836248 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.8455 p.E2819Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 36 14 27.45 52 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 2855580 2855580 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 2855580 2855580 T A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.8333 p.Q2778L 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 43 16 27.12 80 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3000164 3000164 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3000164 3000164 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.6067 p.E2023K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 14 18 56.25 46 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3009006 3009006 + Missense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 8 3009006 3009006 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.5947 p.G1983C 0.012 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 28 4 12.50 82 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3047499 3047499 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 8 3047499 3047499 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.5336 p.A1779V 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 27 4 12.90 22 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3059184 3059184 + Frame_Shift_Del DEL C C - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 3059184 3059184 C - DEL CSMD1 ENST00000520002 human ensembl 70_37 -1 known frame_shift_del c.5051 p.G1684fs 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 4 2 33.33 23 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3063032 3063032 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 3063032 3063032 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known nonsense c.4981 p.E1661* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 24 3 11.11 39 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3081281 3081281 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 8 3081281 3081281 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.4457 p.P1486L 0.999 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 4 15 78.95 30 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3141850 3141850 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 3141850 3141850 G T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.3972 p.F1324L 0.934 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 13 26 66.67 94 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3165225 3165225 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 3165225 3165225 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.3945 p.K1315N 0.848 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 30 25 45.45 55 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3263717 3263717 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 3263717 3263717 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.2101 p.P701S 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 22 8 26.67 18 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3267035 3267035 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 3267035 3267035 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.1657 p.E553Q 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 14 3 17.65 23 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3351195 3351195 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 3351195 3351195 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.1401 p.L467 0.156 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 35 6 14.63 53 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3351249 3351249 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 3351249 3351249 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known splice_site c.1348-1 e12-1 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 20 7 25.93 44 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3611469 3611469 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3611469 3611469 A C SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.914 p.F305C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 25 9 26.47 52 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3611473 3611473 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3611473 3611473 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known nonsense c.910 p.G304* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 23 13 36.11 53 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 3889497 3889497 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 3889497 3889497 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.540 p.H180 0.406 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 33 18 35.29 44 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 4277496 4277496 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 8 4277496 4277496 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.394 p.G132C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 33 24 42.11 50 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 4277554 4277554 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 4277554 4277554 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.336 p.V112 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 17 5 22.73 18 0 0.00 CSMD1 64478 genome.wustl.edu 37 8 4494910 4494910 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 4494910 4494910 A C SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.256 p.L86V 0.998 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 21 4 16.00 44 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34049381 34049381 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 34049381 34049381 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.7101 p.L2367 0.994 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 25 17 40.48 56 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34076831 34076831 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 34076831 34076831 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.6153 p.L2051 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 30 8 21.05 33 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34082535 34082535 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 34082535 34082535 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.5987 p.R1996Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 20 9 31.03 32 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34099119 34099119 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 34099119 34099119 G A SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.5103 p.F1701 0.723 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 126 26 17.11 93 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34102038 34102038 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 34102038 34102038 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.4891 p.E1631Q 0.926 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 66 19 22.35 86 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34112290 34112290 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 34112290 34112290 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.4732 p.D1578N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 8 10 55.56 30 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34180259 34180259 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 34180259 34180259 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.3334 p.E1112Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 297 50 14.41 253 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34192168 34192168 + Silent SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 34192168 34192168 G T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.2487 p.P829 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 33 4 10.81 44 0 0.00 CSMD2 114784 genome.wustl.edu 37 1 34204807 34204807 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 34204807 34204807 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.2302 p.E768K 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 47 6 11.32 47 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113246671 113246671 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 113246671 113246671 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10663 p.R3555C 0.970 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 59 72 54.96 86 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113256737 113256737 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 113256737 113256737 G C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10288 p.H3430D 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 33 10 23.26 118 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113259313 113259313 + Missense_Mutation SNP T T A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 113259313 113259313 T A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10158 p.Q3386H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 41 29 41.43 46 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113277728 113277728 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 113277728 113277728 C A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.9600 p.Q3200H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 11 14 56.00 70 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113301615 113301615 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 113301615 113301615 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.9127 p.G3043R 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 34 10 22.22 52 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113317096 113317096 + Nonsense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 113317096 113317096 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known nonsense c.8120 p.W2707* 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 31 7 18.42 20 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113332155 113332155 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 113332155 113332155 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.7221 p.L2407 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 15 4 21.05 54 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113349922 113349922 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 113349922 113349922 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.6691 p.R2231 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 23 13 36.11 25 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113564878 113564878 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 113564878 113564878 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.4306 p.D1436N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 46 8 14.81 43 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113649101 113649101 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 113649101 113649101 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.3660 p.I1220 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 23 16 41.03 40 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113657418 113657418 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 113657418 113657418 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3230 p.T1077K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 23 6 20.69 51 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113662424 113662424 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 113662424 113662424 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3159 p.N1053K 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 13 18 58.06 55 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113662424 113662425 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 113662424 113662425 - T INS CSMD3 ENST00000297405 human ensembl 70_37 -1 known frame_shift_ins c.3159_3158 p.N1053fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 36 8 18.18 67 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113662455 113662455 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 113662455 113662455 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3128 p.S1043N 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 55 25 31.25 59 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113668533 113668533 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 113668533 113668533 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.2854 p.H952Y 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 38 14 26.92 50 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113668533 113668533 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 113668533 113668533 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.2854 p.H952Y 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 20 11 35.48 42 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 113812431 113812431 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 113812431 113812431 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.1932 p.D644 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 48 16 25.00 55 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 114031408 114031408 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 114031408 114031408 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known nonsense c.918 p.W306* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 14 14 50.00 27 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 114111003 114111003 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 114111003 114111003 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.899 p.S300F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 25 14 35.90 61 0 0.00 CSMD3 114788 genome.wustl.edu 37 8 114186060 114186060 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 114186060 114186060 G C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.600 p.I200M 0.956 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 15 9 37.50 50 0 0.00 CSNK1A1 1452 genome.wustl.edu 37 5 148899919 148899919 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 148899919 148899919 C T SNP CSNK1A1 ENST00000515768 human ensembl 70_37 -1 known silent c.390 p.K130 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1A1 HGNC ENSG00000113712 22 8 26.67 42 0 0.00 CSNK1D 1453 genome.wustl.edu 37 17 80206854 80206854 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80206854 80206854 C G SNP CSNK1D ENST00000314028 human ensembl 70_37 -1 known missense c.1094 p.R365T 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1D HGNC ENSG00000141551 7 19 73.08 31 0 0.00 CSNK1D 1453 genome.wustl.edu 37 17 80209270 80209270 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80209270 80209270 C A SNP CSNK1D ENST00000314028 human ensembl 70_37 -1 known missense c.870 p.W290C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1D HGNC ENSG00000141551 54 22 28.95 65 0 0.00 CSNK1G1 53944 genome.wustl.edu 37 15 64496789 64496789 + Splice_Site SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 64496789 64496789 C G SNP CSNK1G1 ENST00000303052 human ensembl 70_37 -1 known splice_site c.851-1 e8-1 1.000 - - - no_errors CSNK1G1 HGNC ENSG00000169118 97 57 37.01 174 0 0.00 CSNK1G2 1455 genome.wustl.edu 37 19 1979936 1979936 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 1979936 1979936 G A SNP CSNK1G2 ENST00000255641 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1G2 HGNC ENSG00000133275 27 9 25.00 30 0 0.00 CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1952627 1952627 + RNA SNP A A T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 1952627 1952627 A T SNP CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 18 24 57.14 70 0 0.00 CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1954126 1954127 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1954126 1954127 - A INS CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 78 18 18.75 138 0 0.00 CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1954128 1954128 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1954128 1954128 T C SNP CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 75 19 19.79 134 0 0.00 CSNK1G3 1456 genome.wustl.edu 37 5 122909098 122909098 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 122909098 122909098 C G SNP CSNK1G3 ENST00000360683 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1G3 HGNC ENSG00000151292 46 36 43.90 78 0 0.00 CSNK1G3 1456 genome.wustl.edu 37 5 122927040 122927040 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 122927040 122927040 G A SNP CSNK1G3 ENST00000360683 human ensembl 70_37 +1 known missense c.1018 p.D340N 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1G3 HGNC ENSG00000151292 49 17 25.76 48 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75969500 75969500 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 75969500 75969500 G A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.5360 p.A1787V 0.992 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 46 20 30.30 57 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75970197 75970197 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 75970197 75970197 C T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.4981 p.E1661K 0.996 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 28 15 34.88 53 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75975192 75975192 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 75975192 75975192 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known nonsense c.4640 p.S1547* 0.988 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 69 11 13.75 79 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75980337 75980337 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75980337 75980337 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known silent c.3069 p.I1023 0.995 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 113 26 18.71 140 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75981682 75981682 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 75981682 75981682 G A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1724 p.P575L 0.998 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 147 102 40.96 274 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75981898 75981898 + Missense_Mutation SNP T T A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75981898 75981898 T A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1508 p.K503M 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 96 38 28.36 185 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75982032 75982032 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75982032 75982032 C T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known silent c.1374 p.L458 0.605 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 124 73 37.06 132 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75982058 75982058 + Missense_Mutation SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 75982058 75982058 T A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1348 p.R450W 0.228 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 45 7 13.46 29 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75982483 75982483 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 75982483 75982483 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known nonsense c.923 p.S308* 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 69 35 33.65 124 0 0.00 CSPG4 1464 genome.wustl.edu 37 15 75983124 75983124 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 75983124 75983124 C T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known silent c.282 p.L94 0.365 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 90 43 32.33 150 0 0.00 CSPG4P5 114817 genome.wustl.edu 37 15 84954060 84954060 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 84954060 84954060 G C SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CSPG4P5 HGNC ENSG00000235370 10 16 59.26 10 0 0.00 CSPG4P5 114817 genome.wustl.edu 37 15 84954323 84954323 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 84954323 84954323 G A SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CSPG4P5 HGNC ENSG00000235370 131 45 25.57 194 0 0.00 CSPG4P5 114817 genome.wustl.edu 37 15 84957359 84957359 + RNA SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 84957359 84957359 T C SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors CSPG4P5 HGNC ENSG00000235370 77 22 22.22 161 0 0.00 CSPG4P5 114817 genome.wustl.edu 37 15 84959378 84959378 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 84959378 84959378 C T SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors CSPG4P5 HGNC ENSG00000235370 25 6 19.35 22 0 0.00 CSPG5 10675 genome.wustl.edu 37 3 47618348 47618348 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47618348 47618348 C A SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known missense c.1168 p.V390L 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 22 19 46.34 38 0 0.00 CSPG5 10675 genome.wustl.edu 37 3 47618349 47618349 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47618349 47618349 C T SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 22 20 47.62 37 0 0.00 CSPG5 10675 genome.wustl.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 47619161 47619161 C T SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known missense c.355 p.D119N 0.997 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 7 5 41.67 23 0 0.00 CSPP1 79848 genome.wustl.edu 37 8 68007717 68007717 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 68007717 68007717 G A SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 2 3 60.00 16 0 0.00 CSPP1 79848 genome.wustl.edu 37 8 68026058 68026058 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 68026058 68026058 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known silent c.1233 p.L411 0.977 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 14 9 39.13 21 0 0.00 CSPP1 79848 genome.wustl.edu 37 8 68062107 68062107 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 68062107 68062107 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known silent c.2050 p.L684 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 64 11 14.67 87 0 0.00 CSPP1 79848 genome.wustl.edu 37 8 68102956 68102956 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 68102956 68102956 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.3277 p.R1093W 0.879 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 29 11 27.50 48 0 0.00 CSPP1 79848 genome.wustl.edu 37 8 68107771 68107771 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 68107771 68107771 G C SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.3609 p.Q1203H 0.996 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 25 5 16.67 35 0 0.00 CSRNP2 81566 genome.wustl.edu 37 12 51458056 51458056 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 51458056 51458056 C T SNP CSRNP2 ENST00000228515 human ensembl 70_37 -1 known missense c.1105 p.E369K 0.641 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 24 13 35.14 38 0 0.00 CSRNP2 81566 genome.wustl.edu 37 12 51470431 51470431 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 51470431 51470431 C T SNP CSRNP2 ENST00000228515 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors CSRNP2 HGNC ENSG00000110925 5 3 37.50 30 0 0.00 CSRP2 1466 genome.wustl.edu 37 12 77253379 77253379 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 77253379 77253379 C G SNP CSRP2 ENST00000311083 human ensembl 70_37 -1 known missense c.453 p.K151N 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 70 8 10.26 55 0 0.00 CSRP2 1466 genome.wustl.edu 37 12 77259933 77259933 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 77259933 77259933 G A SNP CSRP2 ENST00000311083 human ensembl 70_37 -1 known silent c.108 p.L36 0.981 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 30 11 26.83 37 0 0.00 CSRP2BP 57325 genome.wustl.edu 37 20 18123370 18123370 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 18123370 18123370 G A SNP CSRP2BP ENST00000278816 human ensembl 70_37 +1 known silent c.66 p.S22 0.098 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 21 11 34.38 35 0 0.00 CSRP2BP 57325 genome.wustl.edu 37 20 18143136 18143136 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 18143136 18143136 C G SNP CSRP2BP ENST00000278816 human ensembl 70_37 +1 known silent c.1218 p.G406 0.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 27 11 28.95 37 0 0.00 CST1 1469 genome.wustl.edu 37 20 23729716 23729716 + Silent SNP T T A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 23729716 23729716 T A SNP CST1 ENST00000304749 human ensembl 70_37 -1 known silent c.279 p.I93 0.844 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 118 23 16.31 165 0 0.00 CST1 1469 genome.wustl.edu 37 20 23731323 23731323 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 23731323 23731323 C G SNP CST1 ENST00000304749 human ensembl 70_37 -1 known missense c.181 p.D61H 0.005 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 51 28 35.44 89 0 0.00 CST2 1470 genome.wustl.edu 37 20 23807092 23807092 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 23807092 23807092 C T SNP CST2 ENST00000304725 human ensembl 70_37 -1 known missense c.206 p.R69Q 0.001 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 30 25 45.45 43 0 0.00 CST2 1470 genome.wustl.edu 37 20 23807192 23807192 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 23807192 23807192 C T SNP CST2 ENST00000304725 human ensembl 70_37 -1 known missense c.106 p.D36N 0.001 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 38 30 44.12 63 0 0.00 CST3 1471 genome.wustl.edu 37 20 23614632 23614632 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 23614632 23614632 G T SNP CST3 ENST00000376925 human ensembl 70_37 -1 known missense c.362 p.A121E 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST3 HGNC ENSG00000101439 14 4 22.22 10 0 0.00 CST4 1472 genome.wustl.edu 37 20 23666568 23666568 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 23666568 23666568 C T SNP CST4 ENST00000217423 human ensembl 70_37 -1 known missense c.389 p.R130K 0.001 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 73 27 27.00 82 0 0.00 CST5 1473 genome.wustl.edu 37 20 23860155 23860155 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 23860155 23860155 G A SNP CST5 ENST00000304710 human ensembl 70_37 -1 known silent c.159 p.S53 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 34 23 40.35 101 0 0.00 CST6 1474 genome.wustl.edu 37 11 65780823 65780823 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65780823 65780823 C T SNP CST6 ENST00000312134 human ensembl 70_37 +1 known silent c.402 p.P134 0.998 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST6 HGNC ENSG00000175315 47 12 20.34 57 0 0.00 CST9L 128821 genome.wustl.edu 37 20 23545643 23545643 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 23545643 23545643 C G SNP CST9L ENST00000376979 human ensembl 70_37 -1 known missense c.386 p.R129T 0.001 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 39 13 25.00 36 0 0.00 CSTB 1476 genome.wustl.edu 37 21 45194154 45194154 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 21 45194154 45194154 C T SNP CSTB ENST00000291568 human ensembl 70_37 -1 known missense c.226 p.E76K 0.474 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA - no_errors CSTB HGNC ENSG00000160213 100 30 22.73 181 0 0.00 CSTF1 1477 genome.wustl.edu 37 20 54974255 54974255 + Nonsense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 54974255 54974255 C G SNP CSTF1 ENST00000217109 human ensembl 70_37 +1 known nonsense c.878 p.S293* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 96 12 11.01 90 0 0.00 CSTF2 1478 genome.wustl.edu 37 X 100077239 100077239 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100077239 100077239 G C SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known splice_site c.138-1 e3-1 1.000 - - - no_errors CSTF2 HGNC ENSG00000101811 36 30 45.45 92 0 0.00 CSTF2 1478 genome.wustl.edu 37 X 100081733 100081733 + Silent SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 100081733 100081733 C A SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known silent c.813 p.S271 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 63 9 12.50 68 0 0.00 CSTF2 1478 genome.wustl.edu 37 X 100087788 100087788 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 100087788 100087788 G T SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known missense c.1157 p.G386V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 49 24 32.88 73 0 0.00 CSTF2 1478 genome.wustl.edu 37 X 100088222 100088222 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 100088222 100088222 G T SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known nonsense c.1321 p.E441* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 30 4 11.76 23 0 0.00 CSTF2T 23283 genome.wustl.edu 37 10 53458331 53458331 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 53458331 53458331 G A SNP CSTF2T ENST00000331173 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 28 20 41.67 22 0 0.00 CSTF2T 23283 genome.wustl.edu 37 10 53459272 53459272 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 53459272 53459272 C G SNP CSTF2T ENST00000331173 human ensembl 70_37 -1 known missense c.38 p.R13P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 12 10 45.45 24 0 0.00 CSTF3 1479 genome.wustl.edu 37 11 33112139 33112139 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33112139 33112139 C G SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1580 p.R527T 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 39 12 23.53 29 0 0.00 CSTF3 1479 genome.wustl.edu 37 11 33113844 33113844 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 33113844 33113844 G C SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1418 p.S473C 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 36 21 36.84 46 0 0.00 CSTF3 1479 genome.wustl.edu 37 11 33113860 33113860 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33113860 33113860 C G SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1402 p.E468Q 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 198 54 21.43 175 1 0.56 CSTF3 1479 genome.wustl.edu 37 11 33113887 33113887 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33113887 33113887 C T SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known splice_site c.1376-1 e16-1 1.000 - - - no_errors CSTF3 HGNC ENSG00000176102 195 45 18.67 159 0 0.00 CSTF3 1479 genome.wustl.edu 37 11 33163446 33163446 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 33163446 33163446 G C SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 42 7 14.29 27 0 0.00 CSTL1 128817 genome.wustl.edu 37 20 23420796 23420796 + RNA SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 20 23420796 23420796 G T SNP CSTL1 ENST00000472140 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CSTL1 HGNC ENSG00000125823 11 3 21.43 27 0 0.00 CT45A1 541466 genome.wustl.edu 37 X 134847423 134847423 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 134847423 134847423 G A SNP CT45A1 ENST00000482795 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors CT45A1 HGNC ENSG00000232478 96 13 11.93 32 0 0.00 CT45A1 541466 genome.wustl.edu 37 X 134856890 134856890 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 134856890 134856890 G A SNP CT45A1 ENST00000482795 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CT45A1 HGNC ENSG00000232478 334 58 14.76 218 0 0.00 CT45A5 441521 genome.wustl.edu 37 X 134948146 134948146 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 134948146 134948146 G T SNP CT45A5 ENST00000370724 human ensembl 70_37 -1 known missense c.179 p.T60K 0.001 NULL superfamily_RmlC_Cupin - no_errors CT45A5 HGNC ENSG00000242284 154 30 16.30 136 0 0.00 CT47B1 643311 genome.wustl.edu 37 X 120008797 120008797 + Missense_Mutation SNP T T A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 120008797 120008797 T A SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.728 p.E243V 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 110 38 25.68 155 0 0.00 CT47B1 643311 genome.wustl.edu 37 X 120008813 120008813 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 120008813 120008813 C T SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.712 p.E238K 0.001 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 121 47 27.98 220 0 0.00 CT47B1 643311 genome.wustl.edu 37 X 120009217 120009217 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 120009217 120009217 G A SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.308 p.A103V 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 13 8 36.36 17 0 0.00 CT47B1 643311 genome.wustl.edu 37 X 120009305 120009305 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 120009305 120009305 C T SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.220 p.A74T 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 38 13 25.49 42 0 0.00 CTAG2 30848 genome.wustl.edu 37 X 153880858 153880858 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 153880858 153880858 C T SNP CTAG2 ENST00000369585 human ensembl 70_37 -1 known missense c.317 p.R106H 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 70 11 13.58 60 0 0.00 CTAGE1 64693 genome.wustl.edu 37 18 19995686 19995686 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 19995686 19995686 A G SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.2089 p.F697L 0.402 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 93 16 14.55 108 0 0.00 CTAGE1 64693 genome.wustl.edu 37 18 19996018 19996018 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 19996018 19996018 G C SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known nonsense c.1757 p.S586* 0.012 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 97 60 38.22 112 0 0.00 CTAGE1 64693 genome.wustl.edu 37 18 19996268 19996268 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 19996268 19996268 A G SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.1507 p.S503P 0.007 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 61 40 39.60 137 0 0.00 CTAGE1 64693 genome.wustl.edu 37 18 19997691 19997691 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 18 19997691 19997691 G A SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known silent c.84 p.F28 0.010 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 54 12 18.18 33 0 0.00 CTAGE1 64693 genome.wustl.edu 37 18 19997772 19997772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 19997772 19997772 C T SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.3 p.M1I 0.004 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 19 10 34.48 38 0 0.00 CTAGE4 100128553 genome.wustl.edu 37 7 143881197 143881197 + Missense_Mutation SNP A A G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 143881197 143881197 A G SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known missense c.601 p.S201G 0.036 superfamily_tRNA-bd_arm superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 8 6 40.00 8 0 0.00 CTAGE4 100128553 genome.wustl.edu 37 7 143882559 143882559 + Missense_Mutation SNP A A G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 143882559 143882559 A G SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known missense c.1963 p.R655G 0.062 NULL superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 27 6 18.18 29 0 0.00 CTAGE4 100128553 genome.wustl.edu 37 7 143882864 143882864 + Silent SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 143882864 143882864 T C SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known silent c.2268 p.Y756 0.231 NULL superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 6 3 33.33 15 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39736708 39736708 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 39736708 39736708 C T SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known silent c.45 p.L15 0.963 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 59 51 46.36 109 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39764153 39764153 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 39764153 39764153 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 43 41 48.24 53 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39764153 39764153 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 39764153 39764153 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 77 69 47.26 147 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39771449 39771449 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 39771449 39771449 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known nonsense c.927 p.Y309* 0.046 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 143 30 17.34 124 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39777662 39777662 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 39777662 39777662 A C SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.1079 p.K360T 0.709 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 33 12 26.67 58 0 0.00 CTAGE5 4253 genome.wustl.edu 37 14 39815196 39815196 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 39815196 39815196 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known silent c.1935 p.L645 0.992 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 43 22 33.85 109 0 0.00 CTAGE9 643854 genome.wustl.edu 37 6 132030684 132030684 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 132030684 132030684 C T SNP CTAGE9 ENST00000314099 human ensembl 70_37 -1 known missense c.1474 p.E492K 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 66 52 44.07 80 0 0.00 CTAGE9 643854 genome.wustl.edu 37 6 132031684 132031684 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132031684 132031684 A C SNP CTAGE9 ENST00000314099 human ensembl 70_37 -1 known silent c.474 p.S158 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 22 8 26.67 34 0 0.00 CTBP1 1487 genome.wustl.edu 37 4 1219224 1219224 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 1219224 1219224 C T SNP CTBP1 ENST00000290921 human ensembl 70_37 -1 known silent c.471 p.Q157 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 10 13 56.52 15 0 0.00 CTBP1 1487 genome.wustl.edu 37 4 1222068 1222068 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 1222068 1222068 C G SNP CTBP1 ENST00000290921 human ensembl 70_37 -1 known missense c.259 p.E87Q 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 11 10 47.62 60 0 0.00 CTBP1-AS2 92070 genome.wustl.edu 37 4 1245063 1245063 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 1245063 1245063 C T SNP CTBP1-AS1 ENST00000357591 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTBP1-AS1 HGNC ENSG00000196810 31 12 27.91 42 0 0.00 CTBP1-AS2 92070 genome.wustl.edu 37 4 1246210 1246210 + RNA SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 1246210 1246210 G C SNP CTBP1-AS1 ENST00000581398 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTBP1-AS1 HGNC ENSG00000196810 28 4 12.50 25 0 0.00 CTBP2 1488 genome.wustl.edu 37 10 126683113 126683113 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 126683113 126683113 C G SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.2325 p.Q775H 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 47 27 36.49 69 0 0.00 CTBP2 1488 genome.wustl.edu 37 10 126714653 126714653 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 126714653 126714653 G A SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.1676 p.P559L 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 17 15 46.88 9 0 0.00 CTBP2 1488 genome.wustl.edu 37 10 126716145 126716145 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 126716145 126716145 G C SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.184 p.L62V 0.170 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 22 26 54.17 34 0 0.00 CTBS 1486 genome.wustl.edu 37 1 85040024 85040024 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 85040024 85040024 C T SNP CTBS ENST00000370630 human ensembl 70_37 -1 known silent c.75 p.L25 0.006 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 24 6 20.00 19 0 0.00 CTC1 80169 genome.wustl.edu 37 17 8135226 8135226 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 8135226 8135226 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.2380 p.Q794K 0.617 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 19 10 34.48 34 0 0.00 CTC1 80169 genome.wustl.edu 37 17 8137855 8137855 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8137855 8137855 G A SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.1736 p.S579F 0.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 33 10 23.26 52 0 0.00 CTC1 80169 genome.wustl.edu 37 17 8141856 8141856 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 8141856 8141856 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.289 p.Q97K 0.374 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 30 4 11.76 25 0 0.00 CTC1 80169 genome.wustl.edu 37 17 8146353 8146353 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8146353 8146353 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known silent c.147 p.V49 0.062 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 20 4 16.67 31 0 0.00 CTCF 10664 genome.wustl.edu 37 16 67645908 67645908 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 67645908 67645908 C T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.836 p.S279L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 19 14 42.42 15 0 0.00 CTCF 10664 genome.wustl.edu 37 16 67660614 67660614 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 67660614 67660614 G C SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.1514 p.R505T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 96 24 20.00 126 0 0.00 CTCF 10664 genome.wustl.edu 37 16 67663428 67663428 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67663428 67663428 C T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.1829 p.S610F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 26 25 49.02 29 0 0.00 CTCF 10664 genome.wustl.edu 37 16 67670646 67670646 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67670646 67670646 G T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known nonsense c.1891 p.E631* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 19 8 29.63 41 0 0.00 CTCFL 140690 genome.wustl.edu 37 20 56082640 56082640 + Nonstop_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 56082640 56082640 C G SNP CTCFL ENST00000432255 human ensembl 70_37 -1 known nonstop c.1451 p.*484S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 26 8 23.53 45 0 0.00 CTCFL 140690 genome.wustl.edu 37 20 56098962 56098962 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 56098962 56098962 C T SNP CTCFL ENST00000423479 human ensembl 70_37 -1 known silent c.300 p.L100 0.866 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 110 24 17.91 102 0 0.00 CTCFL 140690 genome.wustl.edu 37 20 56099150 56099150 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 56099150 56099150 C G SNP CTCFL ENST00000423479 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 404 111 21.47 316 1 0.31 CTDNEP1 23399 genome.wustl.edu 37 17 7147886 7147887 + Frame_Shift_Ins INS - - TGGG TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 7147886 7147887 - TGGG INS CTDNEP1 ENST00000318988 human ensembl 70_37 -1 known frame_shift_ins c.658_657 p.M219fs 0.998:0.827 pfam_NIF,superfamily_HAD-like_dom,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDNEP1 HGNC ENSG00000175826 33 14 29.79 46 0 0.00 CTDP1 9150 genome.wustl.edu 37 18 77457866 77457866 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 77457866 77457866 G A SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.499 p.E167K 0.963 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 44 21 32.31 65 0 0.00 CTDP1 9150 genome.wustl.edu 37 18 77474779 77474779 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 77474779 77474779 G A SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.1319 p.R440Q 0.040 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 26 5 16.13 20 0 0.00 CTDP1 9150 genome.wustl.edu 37 18 77513768 77513768 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 77513768 77513768 C T SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.2864 p.A955V 0.998 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 16 16 48.48 49 0 0.00 CTDSP2 10106 genome.wustl.edu 37 12 58240198 58240198 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 58240198 58240198 G A SNP CTDSP2 ENST00000398073 human ensembl 70_37 -1 known silent c.21 p.I7 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP2 HGNC ENSG00000175215 108 42 28.00 98 0 0.00 CTDSPL2 51496 genome.wustl.edu 37 15 44719943 44719943 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44719943 44719943 G A SNP CTDSPL2 ENST00000560834 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CTDSPL2 HGNC ENSG00000137770 44 22 33.33 61 0 0.00 CTDSPL2 51496 genome.wustl.edu 37 15 44783040 44783040 + Silent SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 15 44783040 44783040 A G SNP CTDSPL2 ENST00000260327 human ensembl 70_37 +1 known silent c.534 p.Q178 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 1 20 95.24 40 0 0.00 CTDSPL2 51496 genome.wustl.edu 37 15 44811464 44811464 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 44811464 44811464 G C SNP CTDSPL2 ENST00000260327 human ensembl 70_37 +1 known missense c.1210 p.D404H 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 162 23 12.37 167 0 0.00 CTGF 1490 genome.wustl.edu 37 6 132270589 132270589 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 132270589 132270589 C T SNP CTGF ENST00000367976 human ensembl 70_37 -1 known missense c.865 p.D289N 1.000 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 112 18 13.85 85 0 0.00 CTIF 9811 genome.wustl.edu 37 18 46066203 46066203 + Splice_Site SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 18 46066203 46066203 G T SNP CTIF ENST00000382998 human ensembl 70_37 +1 known splice_site c.1+1 e0+1 0.999 - - - no_errors CTIF HGNC ENSG00000134030 36 20 35.71 28 0 0.00 CTIF 9811 genome.wustl.edu 37 18 46238059 46238059 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 18 46238059 46238059 G C SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.577 p.D193H 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 5 35 87.50 23 0 0.00 CTIF 9811 genome.wustl.edu 37 18 46284630 46284630 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 46284630 46284630 G C SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.925 p.E309Q 0.853 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 24 8 25.00 25 0 0.00 CTIF 9811 genome.wustl.edu 37 18 46343613 46343613 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 46343613 46343613 G A SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 31 24 43.64 26 0 0.00 CTIF 9811 genome.wustl.edu 37 18 46343613 46343613 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 46343613 46343613 G A SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 34 21 38.18 71 0 0.00 CTNNA1 1495 genome.wustl.edu 37 5 138253527 138253527 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 138253527 138253527 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1486 p.R496C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 190 87 31.41 372 0 0.00 CTNNA1 1495 genome.wustl.edu 37 5 138253527 138253527 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 138253527 138253527 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1486 p.R496C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 27 23 46.00 42 0 0.00 CTNNA1 1495 genome.wustl.edu 37 5 138264974 138264974 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 138264974 138264974 G C SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1939 p.D647H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 86 11 11.34 42 0 0.00 CTNNA1 1495 genome.wustl.edu 37 5 138268317 138268317 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138268317 138268317 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known silent c.2349 p.I783 0.992 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 23 17 42.50 30 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80101289 80101289 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 80101289 80101289 C G SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.775 p.Q259E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 69 13 15.85 81 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80540713 80540713 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 80540713 80540713 G A SNP CTNNA2 ENST00000343114 human ensembl 70_37 +1 putative silent c.27 p.Q9 0.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 34 32 48.48 30 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80773063 80773063 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 80773063 80773063 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.1517 p.R506Q 0.999 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 54 16 22.86 70 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80773162 80773162 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 80773162 80773162 C T SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.1616 p.S539L 0.994 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 21 12 36.36 32 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80816449 80816449 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 80816449 80816449 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known silent c.2130 p.P710 0.133 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 17 13 43.33 42 0 0.00 CTNNA2 1496 genome.wustl.edu 37 2 80831287 80831287 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 80831287 80831287 C T SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.2380 p.R794C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 41 10 19.61 75 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 67680320 67680320 + Missense_Mutation SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 67680320 67680320 A G SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.2456 p.V819A 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 43 13 23.21 66 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68280427 68280427 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 68280427 68280427 G A SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known silent c.1479 p.L493 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 30 45 60.00 30 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68280427 68280427 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 68280427 68280427 G A SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known silent c.1479 p.L493 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 83 142 62.56 152 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68940115 68940115 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 68940115 68940115 C T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.1007 p.R336H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 1 10 90.91 45 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68979522 68979522 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 68979522 68979522 G A SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.686 p.S229F 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 115 24 17.27 145 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68979606 68979606 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 68979606 68979606 C T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.602 p.R201K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 27 10 27.03 34 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 68979626 68979626 + Missense_Mutation SNP G G T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 10 68979626 68979626 G T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.582 p.D194E 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 50 28 35.90 89 0 0.00 CTNNA3 29119 genome.wustl.edu 37 10 69407184 69407184 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 69407184 69407184 G C SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.88 p.L30V 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 64 16 20.00 43 0 0.00 CTNNAL1 8727 genome.wustl.edu 37 9 111745505 111745505 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 111745505 111745505 C G SNP CTNNAL1 ENST00000325551 human ensembl 70_37 -1 known missense c.820 p.E274Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 51 8 13.56 112 0 0.00 CTNNAL1 8727 genome.wustl.edu 37 9 111775718 111775718 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 111775718 111775718 G T SNP CTNNAL1 ENST00000325551 human ensembl 70_37 -1 known missense c.5 p.A2D 0.991 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 5 3 37.50 9 0 0.00 CTNNB1 1499 genome.wustl.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 41266098 41266098 A G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.95 p.D32G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 27 10 27.03 57 0 0.00 CTNNB1 1499 genome.wustl.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 41266098 41266098 A G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.95 p.D32G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 32 27 45.76 72 0 0.00 CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 41266113 41266113 C G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 50 37 42.53 99 0 0.00 CTNNB1 1499 genome.wustl.edu 37 3 41277973 41277973 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 41277973 41277973 C G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.1937 p.S646C 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 43 26 37.68 42 0 0.00 CTNNB1 1499 genome.wustl.edu 37 3 41279559 41279559 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 41279559 41279559 G A SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.2129 p.R710H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 32 4 11.11 59 0 0.00 CTNNBIP1 56998 genome.wustl.edu 37 1 9931320 9931320 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 9931320 9931320 C G SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known missense c.112 p.E38Q 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC ENSG00000178585 30 10 25.00 18 0 0.00 CTNNBIP1 56998 genome.wustl.edu 37 1 9932074 9932074 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 9932074 9932074 G A SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known nonsense c.49 p.Q17* 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC ENSG00000178585 40 31 43.66 124 0 0.00 CTNNBIP1 56998 genome.wustl.edu 37 1 9932074 9932074 + Nonsense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 9932074 9932074 G A SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known nonsense c.49 p.Q17* 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC ENSG00000178585 49 37 43.02 37 0 0.00 CTNNBL1 56259 genome.wustl.edu 37 20 36470726 36470726 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 36470726 36470726 A G SNP CTNNBL1 ENST00000472237 human ensembl 70_37 +1 putative rna NULL NULL 0.046 - - - no_errors CTNNBL1 HGNC ENSG00000132792 25 19 43.18 75 0 0.00 CTNNBL1 56259 genome.wustl.edu 37 20 36470756 36470756 + Missense_Mutation SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 20 36470756 36470756 G C SNP CTNNBL1 ENST00000405275 human ensembl 70_37 +1 known missense c.1246 p.E416Q 1.000 superfamily_ARM-type_fold pfam_DUF1716_euk,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 77 26 25.00 62 0 0.00 CTNNBL1 56259 genome.wustl.edu 37 20 36500431 36500431 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 36500431 36500431 G A SNP CTNNBL1 ENST00000473857 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTNNBL1 HGNC ENSG00000132792 16 13 44.83 21 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57564334 57564334 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57564334 57564334 C T SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.826 p.H276Y 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 49 27 35.53 42 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57569356 57569356 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57569356 57569356 G C SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.1108 p.E370Q 0.998 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 24 7 22.58 23 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57569478 57569478 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 57569478 57569478 C T SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known silent c.1230 p.I410 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 91 29 24.17 157 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57575940 57575940 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57575940 57575940 G A SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.2170 p.E724K 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 25 9 26.47 57 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57576858 57576858 + Silent SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 57576858 57576858 T C SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known silent c.2355 p.V785 0.994 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 38 6 13.64 97 0 0.00 CTNND1 1500 genome.wustl.edu 37 11 57576862 57576862 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 11 57576862 57576862 G A SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.2359 p.A787T 0.857 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 23 26 53.06 45 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 10972668 10972668 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 10972668 10972668 C G SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC ENSG00000169862 18 10 35.71 17 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 10972955 10972955 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 10972955 10972955 C G SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC ENSG00000169862 37 18 32.73 45 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 10972957 10972957 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 10972957 10972957 A C SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC ENSG00000169862 11 5 31.25 20 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 10992687 10992687 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 10992687 10992687 G A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known missense c.3187 p.R1063C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 72 13 15.29 114 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 11082931 11082931 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 11082931 11082931 G A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known nonsense c.2665 p.R889* 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 34 8 19.05 38 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 11199587 11199587 + Missense_Mutation SNP C C G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 11199587 11199587 C G SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known missense c.1948 p.D650H 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 75 10 11.76 39 0 0.00 CTNND2 1501 genome.wustl.edu 37 5 11364723 11364723 + Splice_Site SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 11364723 11364723 C T SNP CTNND2 ENST00000506735 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.055 - - - no_errors CTNND2 HGNC ENSG00000169862 10 5 33.33 15 0 0.00 CTNS 1497 genome.wustl.edu 37 17 3552207 3552207 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 3552207 3552207 C T SNP CTNS ENST00000381870 human ensembl 70_37 +1 known silent c.207 p.I69 0.999 NULL smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 20 17 45.95 42 0 0.00 CTNS 1497 genome.wustl.edu 37 17 3559814 3559814 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 3559814 3559814 G C SNP CTNS ENST00000381870 human ensembl 70_37 +1 known silent c.495 p.L165 0.978 smart_CTNS,tigrfam_LC_transporter smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 35 7 16.67 47 0 0.00 CTPS2 56474 genome.wustl.edu 37 X 16701275 16701275 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 16701275 16701275 G A SNP CTPS2 ENST00000359276 human ensembl 70_37 -1 known missense c.947 p.S316F 0.995 pfam_GATASE_1,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 56 10 15.15 70 0 0.00 CTPS2 56474 genome.wustl.edu 37 X 16720991 16720991 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 16720991 16720991 G T SNP CTPS2 ENST00000359276 human ensembl 70_37 -1 known nonsense c.35 p.S12* 1.000 pfam_CTP_synthase_N,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 62 14 18.42 65 0 0.00 CTR9 9646 genome.wustl.edu 37 11 10794773 10794773 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 10794773 10794773 G A SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2680 p.E894K 0.995 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 53 15 22.06 89 0 0.00 CTR9 9646 genome.wustl.edu 37 11 10795559 10795559 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 10795559 10795559 C T SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2728 p.R910C 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 20 7 25.93 56 0 0.00 CTR9 9646 genome.wustl.edu 37 11 10795563 10795563 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 10795563 10795563 C G SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2732 p.S911C 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 104 22 17.46 159 0 0.00 CTR9 9646 genome.wustl.edu 37 11 10800612 10800612 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 10800612 10800612 C T SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.3482 p.S1161L 0.999 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 14 3 17.65 23 0 0.00 CTRB2 440387 genome.wustl.edu 37 16 75238138 75238138 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 75238138 75238138 C T SNP CTRB2 ENST00000303037 human ensembl 70_37 -1 known missense c.713 p.C238Y 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTRB2 HGNC ENSG00000168928 58 27 31.76 91 0 0.00 CTSA 5476 genome.wustl.edu 37 20 44520238 44520240 + In_Frame_Del DEL CTG CTG - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 44520238 44520240 CTG - DEL CTSA ENST00000372484 human ensembl 70_37 +1 known in_frame_del c.85_87 p.L32in_frame_del 0.155:0.311:0.361 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 6 4 40.00 13 0 0.00 CTSA 5476 genome.wustl.edu 37 20 44521502 44521502 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 44521502 44521502 C T SNP CTSA ENST00000372484 human ensembl 70_37 +1 known missense c.637 p.P213S 0.897 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 20 16 44.44 30 0 0.00 CTSB 1508 genome.wustl.edu 37 8 11704595 11704595 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 11704595 11704595 G A SNP CTSB ENST00000353047 human ensembl 70_37 -1 known silent c.759 p.F253 0.518 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC ENSG00000164733 19 10 34.48 51 0 0.00 CTSD 1509 genome.wustl.edu 37 11 1774826 1774826 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 1774826 1774826 G C SNP CTSD ENST00000236671 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSD HGNC ENSG00000117984 21 39 65.00 85 0 0.00 CTSD 1509 genome.wustl.edu 37 11 1780778 1780778 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 1780778 1780778 G C SNP CTSD ENST00000236671 human ensembl 70_37 -1 known missense c.320 p.S107C 0.999 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSD HGNC ENSG00000117984 12 25 67.57 63 0 0.00 CTSE 1510 genome.wustl.edu 37 1 206325421 206325421 + Missense_Mutation SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 206325421 206325421 T C SNP CTSE ENST00000361052 human ensembl 70_37 +1 known missense c.661 p.S221P 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSE HGNC ENSG00000196188 58 41 41.41 65 0 0.00 CTSG 1511 genome.wustl.edu 37 14 25044601 25044601 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 25044601 25044601 G A SNP CTSG ENST00000216336 human ensembl 70_37 -1 known missense c.73 p.R25W 0.934 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 22 15 40.54 33 0 0.00 CTSH 1512 genome.wustl.edu 37 15 79217722 79217722 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 79217722 79217722 C G SNP CTSH ENST00000220166 human ensembl 70_37 -1 known missense c.760 p.E254Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 35 33 47.83 59 0 0.00 CTSH 1512 genome.wustl.edu 37 15 79217722 79217722 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 79217722 79217722 C G SNP CTSH ENST00000220166 human ensembl 70_37 -1 known missense c.760 p.E254Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 14 14 50.00 28 0 0.00 CTSH 1512 genome.wustl.edu 37 15 79237102 79237102 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 79237102 79237102 G A SNP CTSH ENST00000534268 human ensembl 70_37 -1 putative rna NULL NULL 0.025 - - - no_errors CTSH HGNC ENSG00000103811 9 5 35.71 16 0 0.00 CTSH 1512 genome.wustl.edu 37 15 79237225 79237225 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 79237225 79237225 C T SNP CTSH ENST00000529861 human ensembl 70_37 -1 known silent c.99 p.Q33 0.042 NULL NULL - no_errors CTSH HGNC ENSG00000103811 4 15 78.95 31 0 0.00 CTSK 1513 genome.wustl.edu 37 1 150772083 150772083 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 150772083 150772083 G A SNP CTSK ENST00000271651 human ensembl 70_37 -1 known nonsense c.721 p.R241* 0.249 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 18 36 66.67 39 0 0.00 CTSK 1513 genome.wustl.edu 37 1 150772128 150772128 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 150772128 150772128 C G SNP CTSK ENST00000271651 human ensembl 70_37 -1 known missense c.676 p.E226Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 226 58 20.42 244 0 0.00 CTSV 1515 genome.wustl.edu 37 9 99795320 99795320 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 99795320 99795320 C G SNP CTSL2 ENST00000259470 human ensembl 70_37 -1 known missense c.916 p.E306Q 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC ENSG00000136943 65 19 22.09 93 0 0.00 CTSV 1515 genome.wustl.edu 37 9 99798947 99798947 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 99798947 99798947 G A SNP CTSL2 ENST00000259470 human ensembl 70_37 -1 known missense c.479 p.S160L 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC ENSG00000136943 58 17 22.67 57 0 0.00 CTSL3P 392360 genome.wustl.edu 37 9 90387889 90387889 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 90387889 90387889 G A SNP CTSL3 ENST00000354530 human ensembl 70_37 +1 known rna NULL NULL 0.902 - - - no_errors CTSL3 HGNC ENSG00000188029 116 37 24.18 130 0 0.00 CTSL3P 392360 genome.wustl.edu 37 9 90388092 90388092 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 90388092 90388092 C T SNP CTSL3 ENST00000354530 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTSL3 HGNC ENSG00000188029 82 19 18.81 65 0 0.00 CTSO 1519 genome.wustl.edu 37 4 156850736 156850736 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 156850736 156850736 C T SNP CTSO ENST00000433477 human ensembl 70_37 -1 known missense c.796 p.E266K 0.999 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 44 9 16.67 60 0 0.00 CTSO 1519 genome.wustl.edu 37 4 156850795 156850795 + Missense_Mutation SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 156850795 156850795 T A SNP CTSO ENST00000433477 human ensembl 70_37 -1 known missense c.737 p.D246V 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 113 40 26.14 152 0 0.00 CTSS 1520 genome.wustl.edu 37 1 150705599 150705599 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150705599 150705599 C G SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.919 p.E307Q 0.010 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 51 14 21.54 87 0 0.00 CTSS 1520 genome.wustl.edu 37 1 150727516 150727516 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 150727516 150727516 G T SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.360 p.D120E 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 27 3 10.00 21 0 0.00 CTSS 1520 genome.wustl.edu 37 1 150737223 150737223 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 150737223 150737223 C A SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.17 p.C6F 0.000 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 25 4 13.79 33 0 0.00 CTSW 1521 genome.wustl.edu 37 11 65650281 65650281 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 65650281 65650281 C T SNP CTSW ENST00000307886 human ensembl 70_37 +1 known silent c.651 p.F217 0.818 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 23 11 32.35 24 0 0.00 CTSZ 1522 genome.wustl.edu 37 20 57570797 57570797 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 57570797 57570797 C T SNP CTSZ ENST00000217131 human ensembl 70_37 -1 known silent c.819 p.L273 0.997 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 71 11 13.41 96 0 0.00 CTTN 2017 genome.wustl.edu 37 11 70275181 70275181 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 70275181 70275181 G C SNP CTTN ENST00000301843 human ensembl 70_37 +1 known missense c.1052 p.R351T 1.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 20 3 13.04 43 0 0.00 CTTNBP2 83992 genome.wustl.edu 37 7 117424398 117424398 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 117424398 117424398 A C SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.2179 p.S727A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 43 18 29.51 88 0 0.00 CTTNBP2 83992 genome.wustl.edu 37 7 117432046 117432046 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 117432046 117432046 G A SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.1204 p.P402S 0.752 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 97 30 23.62 94 0 0.00 CTTNBP2 83992 genome.wustl.edu 37 7 117451012 117451012 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 117451012 117451012 C A SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.221 p.R74L 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 62 10 13.89 60 0 0.00 CTTNBP2NL 55917 genome.wustl.edu 37 1 112998784 112998784 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 112998784 112998784 G C SNP CTTNBP2NL ENST00000271277 human ensembl 70_37 +1 known missense c.670 p.E224Q 0.998 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 8 4 33.33 17 0 0.00 CTU1 90353 genome.wustl.edu 37 19 51607718 51607718 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 51607718 51607718 C T SNP CTU1 ENST00000421832 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pirsf_2-thiocytidine_tRNA_synth_TtcA pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA - no_errors CTU1 HGNC ENSG00000142544 39 12 23.53 20 0 0.00 CTU1 90353 genome.wustl.edu 37 19 51607737 51607737 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51607737 51607737 G A SNP CTU1 ENST00000421832 human ensembl 70_37 -1 known silent c.90 p.F30 1.000 pirsf_2-thiocytidine_tRNA_synth_TtcA pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA - no_errors CTU1 HGNC ENSG00000142544 29 12 29.27 30 0 0.00 CTU2 348180 genome.wustl.edu 37 16 88779087 88779087 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88779087 88779087 G A SNP CTU2 ENST00000567949 human ensembl 70_37 +1 known missense c.724 p.E242K 0.000 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 40 15 27.27 55 0 0.00 CTXN2 399697 genome.wustl.edu 37 15 48493683 48493683 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48493683 48493683 T G SNP CTXN2 ENST00000417307 human ensembl 70_37 +1 known silent c.186 p.S62 1.000 pfam_Cortexin pfam_Cortexin - no_errors CTXN2 HGNC ENSG00000233932 29 8 21.62 53 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16949583 16949583 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 16949583 16949583 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7629 p.M2543I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 72 13 15.29 101 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16957842 16957842 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 16957842 16957842 C A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7188 p.E2396D 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 42 13 23.64 78 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16957870 16957870 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 16957870 16957870 G A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7160 p.S2387F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 119 20 14.39 164 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16960771 16960771 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 16960771 16960771 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6850 p.D2284N 0.989 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 26 24 48.00 56 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16967336 16967336 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 16967336 16967336 G C SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6550 p.L2184V 0.242 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 37 15 28.85 70 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16967746 16967746 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 16967746 16967746 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6299 p.R2100T 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 24 6 20.00 94 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16967746 16967746 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 16967746 16967746 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6299 p.R2100T 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 31 9 22.50 32 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16975228 16975228 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 16975228 16975228 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known silent c.5982 p.P1994 0.105 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 10 9 47.37 35 0 0.00 CUBN 8029 genome.wustl.edu 37 10 16981092 16981092 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 16981092 16981092 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known nonsense c.5603 p.W1868* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 53 20 27.40 118 0 0.00 CUBN 8029 genome.wustl.edu 37 10 17026127 17026127 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 17026127 17026127 G A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.4502 p.A1501V 0.801 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 79 27 25.47 133 0 0.00 CUBN 8029 genome.wustl.edu 37 10 17110148 17110148 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 17110148 17110148 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2923 p.E975Q 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 44 42 48.28 152 0 0.00 CUBN 8029 genome.wustl.edu 37 10 17113832 17113832 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 17113832 17113832 G C SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2440 p.Q814E 1.000 superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 41 12 22.64 64 0 0.00 CUBN 8029 genome.wustl.edu 37 10 17126293 17126293 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 17126293 17126293 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2278 p.D760N 0.277 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 40 18 31.03 60 0 0.00 CUBN 8029 genome.wustl.edu 37 10 17146596 17146596 + Silent SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 17146596 17146596 G T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known silent c.1239 p.V413 0.417 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 27 6 18.18 29 0 0.00 CUEDC2 79004 genome.wustl.edu 37 10 104183034 104183034 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 104183034 104183034 G A SNP CUEDC2 ENST00000465409 human ensembl 70_37 -1 known rna NULL NULL 0.501 - - - no_errors CUEDC2 HGNC ENSG00000107874 8 11 57.89 29 0 0.00 CUEDC2 79004 genome.wustl.edu 37 10 104184033 104184033 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 104184033 104184033 G T SNP CUEDC2 ENST00000369937 human ensembl 70_37 -1 known missense c.399 p.D133E 0.003 superfamily_UBA-like pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 30 4 11.76 31 0 0.00 CUEDC2 79004 genome.wustl.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 104184490 104184490 G A SNP CUEDC2 ENST00000369937 human ensembl 70_37 -1 known missense c.134 p.S45L 0.992 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 24 13 35.14 35 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148454089 148454089 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 148454089 148454089 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.330 p.L110 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 44 13 22.81 64 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148457536 148457536 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 148457536 148457536 G C SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.737 p.R246T 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 23 10 30.30 35 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148483659 148483659 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 148483659 148483659 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.1315 p.E439K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 39 17 30.36 60 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148484149 148484149 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 148484149 148484149 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.1416 p.K472 0.998 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 22 25 53.19 45 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 7 148484186 148484186 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.1453 p.E485K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 27 13 32.50 37 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148487457 148487457 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 148487457 148487457 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.1730 p.R577Q 0.995 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 114 24 17.27 146 0 0.00 CUL1 8454 genome.wustl.edu 37 7 148495070 148495070 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 148495070 148495070 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.1989 p.L663 1.000 superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 70 32 31.37 89 0 0.00 CUL2 8453 genome.wustl.edu 37 10 35328007 35328007 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 35328007 35328007 G A SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known silent c.775 p.L259 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 35 13 27.08 56 0 0.00 CUL2 8453 genome.wustl.edu 37 10 35338621 35338621 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 35338621 35338621 C G SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known missense c.553 p.E185Q 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 56 11 16.42 82 0 0.00 CUL2 8453 genome.wustl.edu 37 10 35349897 35349897 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 35349897 35349897 C T SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known splice_site c.280-1 e4-1 1.000 - - - no_errors CUL2 HGNC ENSG00000108094 19 4 17.39 30 0 0.00 CUL3 8452 genome.wustl.edu 37 2 225339094 225339095 + Splice_Site INS - - CA TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 225339094 225339095 - CA INS CUL3 ENST00000264414 human ensembl 70_37 -1 known splice_site_ins c.2176-2_2176-1 e16-1 1.000:1.000 - - - no_errors CUL3 HGNC ENSG00000036257 16 19 54.29 34 0 0.00 CUL3 8452 genome.wustl.edu 37 2 225339095 225339095 + Splice_Site SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 225339095 225339095 T A SNP CUL3 ENST00000264414 human ensembl 70_37 -1 known splice_site c.2176-2 e16-2 1.000 - - - no_errors CUL3 HGNC ENSG00000036257 12 23 63.89 34 0 0.00 CUL3 8452 genome.wustl.edu 37 2 225365091 225365091 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 225365091 225365091 C T SNP CUL3 ENST00000264414 human ensembl 70_37 -1 known silent c.1599 p.E533 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 71 8 10.13 65 0 0.00 CUL4A 8451 genome.wustl.edu 37 13 113893808 113893808 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 113893808 113893808 C T SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known silent c.978 p.F326 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 67 22 24.72 90 0 0.00 CUL4A 8451 genome.wustl.edu 37 13 113899366 113899366 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 113899366 113899366 C T SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known silent c.1437 p.L479 0.917 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 22 18 45.00 38 0 0.00 CUL4A 8451 genome.wustl.edu 37 13 113909425 113909425 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 113909425 113909425 C G SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known missense c.2017 p.Q673E 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 65 14 17.72 87 0 0.00 CUL4A 8451 genome.wustl.edu 37 13 113915001 113915001 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113915001 113915001 G A SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known missense c.2112 p.M704I 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 34 8 19.05 44 0 0.00 CUL4B 8450 genome.wustl.edu 37 X 119674274 119674274 + Silent SNP T T G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 119674274 119674274 T G SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known silent c.1641 p.A547 0.920 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 130 22 14.47 120 0 0.00 CUL4B 8450 genome.wustl.edu 37 X 119678052 119678052 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 119678052 119678052 G C SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known missense c.1144 p.Q382E 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 51 6 10.53 58 0 0.00 CUL4B 8450 genome.wustl.edu 37 X 119678348 119678348 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 119678348 119678348 C G SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known silent c.1125 p.L375 0.051 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 22 13 37.14 28 0 0.00 CUL4B 8450 genome.wustl.edu 37 X 119694468 119694468 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 119694468 119694468 G T SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known missense c.80 p.P27H 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 17 3 15.00 35 0 0.00 CUL5 8065 genome.wustl.edu 37 11 107943062 107943062 + Nonsense_Mutation SNP T T G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 107943062 107943062 T G SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known nonsense c.878 p.L293* 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 18 21 53.85 86 0 0.00 CUL5 8065 genome.wustl.edu 37 11 107965208 107965208 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 107965208 107965208 G A SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known missense c.1534 p.E512K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 11 8 42.11 21 0 0.00 CUL5 8065 genome.wustl.edu 37 11 107968424 107968424 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 107968424 107968424 C T SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known missense c.1967 p.S656L 1.000 pfam_Cullin_N,superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 17 10 37.04 42 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43005484 43005484 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 43005484 43005484 G A SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.5291 p.S1764F 0.834 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 30 19 38.78 39 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43005529 43005529 + Nonsense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 43005529 43005529 G C SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known nonsense c.5246 p.S1749* 0.222 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 25 20 44.44 38 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43006110 43006110 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 43006110 43006110 G A SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known silent c.4920 p.D1640 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 20 5 20.00 24 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43010606 43010606 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 43010606 43010606 G T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.3831 p.F1277L 0.995 pfam_Cullin_N pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 16 10 38.46 32 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43017742 43017742 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43017742 43017742 G C SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.1780 p.Q594E 0.986 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 18 10 35.71 20 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43017776 43017776 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43017776 43017776 G C SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known silent c.1746 p.L582 0.988 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 16 9 36.00 20 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43018878 43018878 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43018878 43018878 G T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known nonsense c.1313 p.S438* 0.981 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 17 25 59.52 43 0 0.00 CUL7 9820 genome.wustl.edu 37 6 43020151 43020151 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 43020151 43020151 C T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.532 p.E178K 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 12 15 55.56 62 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43153911 43153911 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43153911 43153911 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known silent c.969 p.L323 0.959 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 32 16 33.33 30 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43153970 43153970 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 43153970 43153970 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.1028 p.S343L 0.034 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 27 18 40.00 44 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43163825 43163825 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 43163825 43163825 G A SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2407 p.V803I 0.999 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 25 8 24.24 27 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43163948 43163948 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 43163948 43163948 G C SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2530 p.E844Q 0.019 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 30 4 11.76 34 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43164388 43164388 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43164388 43164388 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2591 p.S864F 0.996 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 26 24 48.00 32 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43182816 43182816 + Splice_Site SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 43182816 43182816 G T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known splice_site c.5689-1 e29-1 1.000 - - - no_errors CUL9 HGNC ENSG00000112659 26 4 13.33 28 0 0.00 CUL9 23113 genome.wustl.edu 37 6 43184222 43184222 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43184222 43184222 G A SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.6263 p.C2088Y 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 202 71 25.91 313 0 0.00 CUTA 51596 genome.wustl.edu 37 6 33384740 33384740 + Missense_Mutation SNP T T G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 33384740 33384740 T G SNP CUTA ENST00000374500 human ensembl 70_37 -1 known missense c.427 p.K143Q 1.000 pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b - no_errors CUTA HGNC ENSG00000112514 53 9 14.29 61 0 0.00 CUTA 51596 genome.wustl.edu 37 6 33385937 33385937 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33385937 33385937 G A SNP CUTA ENST00000374500 human ensembl 70_37 -1 known missense c.26 p.S9F 0.000 NULL pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b - no_errors CUTA HGNC ENSG00000112514 30 24 44.44 47 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101740715 101740715 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 101740715 101740715 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 11 15 57.69 42 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101754977 101754977 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 101754977 101754977 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known splice_site c.564-1 e7-1 1.000 - - - no_errors CUX1 HGNC ENSG00000257923 42 9 17.65 49 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101813743 101813743 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 101813743 101813743 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.774 p.Q258 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 6 16 72.73 36 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101813778 101813778 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 101813778 101813778 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.809 p.S270L 0.876 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 20 12 37.50 36 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101844749 101844749 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 101844749 101844749 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.2205 p.L735 0.666 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 139 57 28.93 205 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101844947 101844947 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 101844947 101844947 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.2403 p.D801 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 70 9 11.39 79 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101845035 101845035 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 101845035 101845035 T C SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.2491 p.W831R 0.998 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 27 23 46.00 46 0 0.00 CUX1 1523 genome.wustl.edu 37 7 101882709 101882709 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 101882709 101882709 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.3765 p.L1255 0.999 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 49 18 26.87 69 0 0.00 CUX2 23316 genome.wustl.edu 37 12 111744900 111744900 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 111744900 111744900 A G SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1034 p.K345R 1.000 superfamily_Prefoldin pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 7 20 74.07 46 0 0.00 CUX2 23316 genome.wustl.edu 37 12 111747986 111747986 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 111747986 111747986 G C SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1400 p.S467T 0.279 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 24 4 14.29 36 0 0.00 CUX2 23316 genome.wustl.edu 37 12 111747997 111747997 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 111747997 111747997 G A SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1411 p.D471N 0.643 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 24 3 11.11 31 0 0.00 CUX2 23316 genome.wustl.edu 37 12 111758156 111758156 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 111758156 111758156 C T SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known silent c.2343 p.D781 0.899 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 10 3 23.08 10 0 0.00 CUX2 23316 genome.wustl.edu 37 12 111785986 111785986 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111785986 111785986 G A SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.4318 p.D1440N 0.105 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 18 15 45.45 53 0 0.00 CUZD1 50624 genome.wustl.edu 37 10 124593209 124593209 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124593209 124593209 G A SNP CUZD1 ENST00000368904 human ensembl 70_37 -1 known nonsense c.1630 p.R544* 0.008 NULL pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 49 20 28.99 83 0 0.00 CUZD1 50624 genome.wustl.edu 37 10 124596954 124596954 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 124596954 124596954 C G SNP CUZD1 ENST00000368904 human ensembl 70_37 -1 known missense c.565 p.D189H 0.927 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 56 7 11.11 84 0 0.00 CWC15 51503 genome.wustl.edu 37 11 94703170 94703170 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 94703170 94703170 C G SNP CWC15 ENST00000279839 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CWC15 HGNC ENSG00000150316 45 24 34.78 52 0 0.00 CWC22 57703 genome.wustl.edu 37 2 180838465 180838465 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 180838465 180838465 C T SNP CWC22 ENST00000295749 human ensembl 70_37 -1 known missense c.646 p.A216T 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 27 21 43.75 45 0 0.00 CWC25 54883 genome.wustl.edu 37 17 36958427 36958427 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 36958427 36958427 G A SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known missense c.1196 p.S399F 1.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 48 12 20.00 62 0 0.00 CWC25 54883 genome.wustl.edu 37 17 36962572 36962572 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 36962572 36962572 G A SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 52 11 17.46 111 0 0.00 CWC25 54883 genome.wustl.edu 37 17 36971289 36971289 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 36971289 36971289 C T SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known missense c.253 p.E85K 1.000 pfam_CWC25 pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 17 5 22.73 31 0 0.00 CWF19L1 55280 genome.wustl.edu 37 10 101996654 101996654 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 101996654 101996654 G T SNP CWF19L1 ENST00000354105 human ensembl 70_37 -1 known missense c.1327 p.Q443K 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 110 83 43.01 302 0 0.00 CWF19L1 55280 genome.wustl.edu 37 10 102010025 102010025 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 102010025 102010025 C G SNP CWF19L1 ENST00000354105 human ensembl 70_37 -1 known missense c.688 p.G230R 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 47 6 11.32 60 0 0.00 CWF19L2 143884 genome.wustl.edu 37 11 107207441 107207442 + Splice_Site INS - - A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 107207441 107207442 - A INS CWF19L2 ENST00000282251 human ensembl 70_37 -1 known splice_site_ins c.2203-3_2203-2 e15-2 0.999:0.586 - - - no_errors CWF19L2 HGNC ENSG00000152404 13 4 23.53 33 0 0.00 CWF19L2 143884 genome.wustl.edu 37 11 107260832 107260832 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 107260832 107260832 G C SNP CWF19L2 ENST00000282251 human ensembl 70_37 -1 known missense c.1840 p.Q614E 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 39 17 30.36 47 0 0.00 CWH43 80157 genome.wustl.edu 37 4 48988465 48988465 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 48988465 48988465 G T SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known nonsense c.19 p.E7* 0.833 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 9 5 35.71 20 0 0.00 CWH43 80157 genome.wustl.edu 37 4 48996776 48996776 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 48996776 48996776 C G SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known missense c.652 p.L218V 0.990 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 15 29 65.91 123 0 0.00 CWH43 80157 genome.wustl.edu 37 4 49040097 49040097 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 49040097 49040097 T G SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known missense c.1703 p.L568R 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 265 38 12.54 370 0 0.00 CX3CL1 6376 genome.wustl.edu 37 16 57416043 57416043 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57416043 57416043 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.293 p.R98Q 0.000 superfamily_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 49 50 50.51 76 0 0.00 CX3CL1 6376 genome.wustl.edu 37 16 57416206 57416206 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 57416206 57416206 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known silent c.456 p.G152 0.136 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 12 7 36.84 11 0 0.00 CX3CL1 6376 genome.wustl.edu 37 16 57416399 57416399 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 57416399 57416399 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.649 p.E217K 0.000 prints_Chemokine_fractalkine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 53 10 15.87 88 0 0.00 CX3CL1 6376 genome.wustl.edu 37 16 57416511 57416511 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57416511 57416511 C T SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.761 p.P254L 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 33 34 50.00 77 0 0.00 CX3CR1 1524 genome.wustl.edu 37 3 39307021 39307021 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 39307021 39307021 G C SNP CX3CR1 ENST00000358309 human ensembl 70_37 -1 known missense c.1076 p.S359C 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 49 8 14.04 55 0 0.00 CX3CR1 1524 genome.wustl.edu 37 3 39323113 39323113 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39323113 39323113 C A SNP CX3CR1 ENST00000358309 human ensembl 70_37 -1 known missense c.74 p.R25I 0.090 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 19 17 47.22 36 0 0.00 CXADRP3 440224 genome.wustl.edu 37 18 14478616 14478616 + RNA SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 18 14478616 14478616 C T SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 0.379 - - - no_errors CXADRP3 HGNC ENSG00000265766 23 7 23.33 12 0 0.00 CXADRP3 440224 genome.wustl.edu 37 18 14478894 14478894 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 14478894 14478894 T A SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 44 9 16.98 37 0 0.00 CXADRP3 440224 genome.wustl.edu 37 18 14479194 14479194 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 14479194 14479194 G C SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 0.886 - - - no_errors CXADRP3 HGNC ENSG00000265766 27 11 28.95 29 0 0.00 CXADRP3 440224 genome.wustl.edu 37 18 14479303 14479303 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 14479303 14479303 C T SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 0.821 - - - no_errors CXADRP3 HGNC ENSG00000265766 5 8 61.54 10 0 0.00 CXCL16 58191 genome.wustl.edu 37 17 4642687 4642687 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4642687 4642687 G C SNP CXCL16 ENST00000293778 human ensembl 70_37 -1 known missense c.5 p.S2C 0.000 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 9 7 43.75 21 0 0.00 CXCL2 2920 genome.wustl.edu 37 4 74964651 74964651 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 74964651 74964651 G C SNP CXCL2 ENST00000296031 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CXCL2 HGNC ENSG00000081041 16 15 48.39 34 0 0.00 CXCL3 2921 genome.wustl.edu 37 4 74903165 74903166 + RNA INS - - T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 74903165 74903166 - T INS CXCL3 ENST00000511669 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors CXCL3 HGNC ENSG00000163734 10 3 23.08 8 0 0.00 CXCL3 2921 genome.wustl.edu 37 4 74903836 74903836 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 74903836 74903836 C T SNP CXCL3 ENST00000296026 human ensembl 70_37 -1 known silent c.282 p.Q94 0.824 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors CXCL3 HGNC ENSG00000163734 55 29 34.52 46 0 0.00 CXCL9 4283 genome.wustl.edu 37 4 76924773 76924773 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 76924773 76924773 G C SNP CXCL9 ENST00000264888 human ensembl 70_37 -1 known missense c.356 p.S119C 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL9 HGNC ENSG00000138755 52 23 30.67 31 0 0.00 CXCR2 3579 genome.wustl.edu 37 2 219000467 219000467 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 219000467 219000467 G A SNP CXCR2 ENST00000318507 human ensembl 70_37 +1 known missense c.943 p.A315T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXC/IL8_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2/IL8RB,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 25 12 32.43 44 0 0.00 CXCR2P1 3580 genome.wustl.edu 37 2 218924813 218924813 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 218924813 218924813 G T SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC ENSG00000229754 16 5 23.81 14 0 0.00 CXCR2P1 3580 genome.wustl.edu 37 2 218924939 218924939 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 218924939 218924939 C T SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.095 - - - no_errors CXCR2P1 HGNC ENSG00000229754 18 4 18.18 46 0 0.00 CXCR2P1 3580 genome.wustl.edu 37 2 218925822 218925822 + RNA SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 218925822 218925822 G C SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC ENSG00000229754 15 13 46.43 43 0 0.00 CXCR3 2833 genome.wustl.edu 37 X 70837348 70837348 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 70837348 70837348 G C SNP CXCR3 ENST00000373691 human ensembl 70_37 -1 known missense c.115 p.L39V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 71 10 12.35 74 0 0.00 CXCR4 7852 genome.wustl.edu 37 2 136872366 136872366 + RNA SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 136872366 136872366 C A SNP CXCR4 ENST00000466288 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR4 HGNC ENSG00000121966 15 12 44.44 16 0 0.00 CXCR4 7852 genome.wustl.edu 37 2 136872498 136872498 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 136872498 136872498 G A SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known nonsense c.1012 p.R338* 1.000 prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 35 18 33.96 63 0 0.00 CXCR4 7852 genome.wustl.edu 37 2 136872945 136872945 + Missense_Mutation SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 136872945 136872945 T C SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known missense c.565 p.I189V 0.034 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 28 19 40.43 32 0 0.00 CXCR4 7852 genome.wustl.edu 37 2 136873458 136873458 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 136873458 136873458 C T SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known missense c.52 p.E18K 0.936 pfam_Chemokine_CXCR4_N pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 34 25 42.37 52 0 0.00 CXCR5 643 genome.wustl.edu 37 11 118764809 118764809 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 118764809 118764809 C T SNP CXCR5 ENST00000292174 human ensembl 70_37 +1 known missense c.556 p.L186F 0.984 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 9 5 35.71 17 0 0.00 CXCR6 10663 genome.wustl.edu 37 3 45988864 45988864 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 45988864 45988864 G C SNP CXCR6 ENST00000304552 human ensembl 70_37 +1 known missense c.891 p.K297N 0.962 pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC ENSG00000172215 57 33 36.67 71 0 0.00 ACKR3 57007 genome.wustl.edu 37 2 237489318 237489318 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 237489318 237489318 C T SNP CXCR7 ENST00000272928 human ensembl 70_37 +1 known silent c.210 p.I70 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC ENSG00000144476 60 18 23.08 53 0 0.00 ACKR3 57007 genome.wustl.edu 37 2 237489360 237489360 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 237489360 237489360 G C SNP CXCR7 ENST00000272928 human ensembl 70_37 +1 known missense c.252 p.L84F 0.751 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RDC1_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC ENSG00000144476 13 25 65.79 31 0 0.00 CXXC1 30827 genome.wustl.edu 37 18 47809337 47809337 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 47809337 47809337 C G SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known missense c.1723 p.D575H 0.994 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 15 5 25.00 36 0 0.00 CXXC1 30827 genome.wustl.edu 37 18 47810186 47810186 + Splice_Site SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 47810186 47810186 C G SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known splice_site c.1426-1 e11-1 1.000 - - - no_errors CXXC1 HGNC ENSG00000154832 25 7 21.88 49 0 0.00 CXXC1 30827 genome.wustl.edu 37 18 47810933 47810933 + Splice_Site SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 18 47810933 47810933 C A SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known splice_site c.1033-1 e9-1 1.000 - - - no_errors CXXC1 HGNC ENSG00000154832 17 3 15.00 24 0 0.00 CXXC1 30827 genome.wustl.edu 37 18 47812538 47812538 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47812538 47812538 C T SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 77 49 38.89 97 0 0.00 CXXC11 0 genome.wustl.edu 37 2 242812025 242812025 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 242812025 242812025 G A SNP CXXC11 ENST00000343216 human ensembl 70_37 +1 known silent c.117 p.L39 0.036 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 39 116 74.84 246 1 0.40 CXXC11 0 genome.wustl.edu 37 2 242815292 242815292 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 242815292 242815292 C T SNP CXXC11 ENST00000343216 human ensembl 70_37 +1 known missense c.1585 p.P529S 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 18 10 35.71 71 0 0.00 CXXC1P1 392459 genome.wustl.edu 37 X 47583417 47583417 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47583417 47583417 T C SNP CXXC1P1 ENST00000483225 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CXXC1P1 HGNC ENSG00000187893 41 16 28.07 51 0 0.00 CXXC1P1 392459 genome.wustl.edu 37 X 47612412 47612412 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 47612412 47612412 C A SNP CXXC1P1 ENST00000589302 human ensembl 70_37 +1 known rna NULL NULL 0.106 - - - no_errors CXXC1P1 HGNC ENSG00000187893 28 37 56.92 45 0 0.00 CXorf21 80231 genome.wustl.edu 37 X 30577710 30577710 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 30577710 30577710 G A SNP CXorf21 ENST00000378962 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 0.990 NULL NULL - no_errors CXorf21 HGNC ENSG00000120280 130 25 16.13 75 0 0.00 CXorf21 80231 genome.wustl.edu 37 X 30577856 30577856 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 30577856 30577856 G A SNP CXorf21 ENST00000378962 human ensembl 70_37 -1 known missense c.617 p.S206F 1.000 NULL NULL - no_errors CXorf21 HGNC ENSG00000120280 45 26 36.62 44 0 0.00 CXorf22 170063 genome.wustl.edu 37 X 35937975 35937975 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 35937975 35937975 G T SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known missense c.59 p.S20I 0.065 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 74 21 22.11 94 0 0.00 CXorf22 170063 genome.wustl.edu 37 X 35966468 35966468 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 35966468 35966468 C T SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known silent c.555 p.I185 0.004 superfamily_PapD-like superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 29 15 34.09 41 0 0.00 CXorf22 170063 genome.wustl.edu 37 X 35974251 35974251 + Missense_Mutation SNP A A G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 35974251 35974251 A G SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known missense c.1348 p.K450E 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 44 35 44.30 62 0 0.00 CXorf22 170063 genome.wustl.edu 37 X 35993317 35993317 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 35993317 35993317 C G SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known missense c.2308 p.L770V 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 14 3 17.65 24 0 0.00 CXorf23 256643 genome.wustl.edu 37 X 19935399 19935399 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 19935399 19935399 C T SNP CXorf23 ENST00000466702 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CXorf23 HGNC ENSG00000173681 57 20 25.97 71 0 0.00 CXorf23 256643 genome.wustl.edu 37 X 19947987 19947987 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 19947987 19947987 C G SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1935 p.Q645H 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 185 84 31.23 315 0 0.00 CXorf23 256643 genome.wustl.edu 37 X 19947987 19947987 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 19947987 19947987 C G SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1935 p.Q645H 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 43 15 25.86 20 0 0.00 CXorf23 256643 genome.wustl.edu 37 X 19973590 19973590 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 19973590 19973590 G T SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1369 p.L457I 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 43 5 10.42 63 0 0.00 CXorf23 256643 genome.wustl.edu 37 X 19973608 19973608 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 19973608 19973608 G A SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1351 p.H451Y 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 60 13 17.81 72 0 0.00 PBDC1 51260 genome.wustl.edu 37 X 75395419 75395419 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 75395419 75395419 G A SNP CXorf26 ENST00000373358 human ensembl 70_37 +1 known missense c.268 p.E90K 1.000 pfam_Put_polysacc_synth pfam_Put_polysacc_synth - no_errors CXorf26 HGNC ENSG00000102390 58 11 15.94 75 0 0.00 PBDC1 51260 genome.wustl.edu 37 X 75397718 75397718 + Missense_Mutation SNP A A G TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 X 75397718 75397718 A G SNP CXorf26 ENST00000373358 human ensembl 70_37 +1 known missense c.677 p.N226S 0.000 NULL pfam_Put_polysacc_synth - no_errors CXorf26 HGNC ENSG00000102390 22 5 18.52 25 0 0.00 CXorf27 25763 genome.wustl.edu 37 X 37850284 37850284 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 37850284 37850284 C T SNP CXorf27 ENST00000341016 human ensembl 70_37 +1 known silent c.192 p.I64 0.987 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC ENSG00000187516 27 17 38.64 22 0 0.00 CXorf27 25763 genome.wustl.edu 37 X 37850383 37850383 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 37850383 37850383 C T SNP CXorf27 ENST00000341016 human ensembl 70_37 +1 known silent c.291 p.S97 0.000 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC ENSG00000187516 42 17 28.81 25 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36324926 36324926 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 36324926 36324926 C G SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.460 p.L154V 0.002 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 75 21 21.88 64 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36337408 36337408 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 36337408 36337408 C T SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.767 p.P256L 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 29 5 14.71 37 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36366394 36366394 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36366394 36366394 A C SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.932 p.K311T 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 34 8 19.05 50 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36371742 36371742 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 36371742 36371742 G A SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.1135 p.E379K 0.010 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 19 5 20.83 38 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36379467 36379467 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36379467 36379467 C T SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known silent c.1212 p.F404 0.152 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 46 31 40.26 105 0 0.00 CXorf30 645090 genome.wustl.edu 37 X 36402963 36402963 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 36402963 36402963 G A SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.1744 p.V582M 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 15 9 37.50 52 0 0.00 CXorf31 724087 genome.wustl.edu 37 X 46749730 46749730 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 46749730 46749730 C G SNP CXorf31 ENST00000377879 human ensembl 70_37 -1 known missense c.135 p.K45N 0.000 NULL NULL - no_errors CXorf31 HGNC ENSG00000204904 23 15 38.46 35 0 0.00 CXorf36 79742 genome.wustl.edu 37 X 45051184 45051184 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 45051184 45051184 C T SNP CXorf36 ENST00000398000 human ensembl 70_37 -1 known missense c.310 p.D104N 1.000 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 62 11 15.07 51 0 0.00 CXorf40A 91966 genome.wustl.edu 37 X 148627246 148627246 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 148627246 148627246 G A SNP CXorf40A ENST00000359293 human ensembl 70_37 +1 known missense c.70 p.E24K 1.000 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 18 31 63.27 93 0 0.00 CXorf40B 541578 genome.wustl.edu 37 X 149100845 149100845 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 149100845 149100845 C T SNP CXorf40B ENST00000355203 human ensembl 70_37 -1 known missense c.394 p.E132K 0.781 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 146 46 23.96 148 0 0.00 CXorf40B 541578 genome.wustl.edu 37 X 149102009 149102009 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 149102009 149102009 A G SNP CXorf40B ENST00000355203 human ensembl 70_37 -1 known silent c.84 p.R28 0.887 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 39 26 40.00 109 0 0.00 CXorf48 54967 genome.wustl.edu 37 X 134292169 134292169 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 134292169 134292169 G C SNP CXorf48 ENST00000276241 human ensembl 70_37 -1 known missense c.492 p.I164M 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf48 HGNC ENSG00000169551 39 8 17.02 68 0 0.00 CXorf56 63932 genome.wustl.edu 37 X 118676555 118676555 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 118676555 118676555 C T SNP CXorf56 ENST00000371594 human ensembl 70_37 -1 known silent c.426 p.V142 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 126 37 22.70 218 0 0.00 CXorf56 63932 genome.wustl.edu 37 X 118699296 118699296 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118699296 118699296 G C SNP CXorf56 ENST00000371594 human ensembl 70_37 -1 known nonsense c.23 p.S8* 0.983 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 27 17 37.78 47 0 0.00 CXorf57 55086 genome.wustl.edu 37 X 105855822 105855822 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 105855822 105855822 G T SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.512 p.R171I 0.197 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 20 25 55.56 78 0 0.00 CXorf57 55086 genome.wustl.edu 37 X 105876458 105876458 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 105876458 105876458 G A SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 38 42 52.50 66 0 0.00 CXorf57 55086 genome.wustl.edu 37 X 105881224 105881224 + Nonsense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 105881224 105881224 T A SNP CXorf57 ENST00000461251 human ensembl 70_37 +1 known nonsense c.1643 p.L548* 0.005 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 31 16 34.04 44 0 0.00 CXorf57 55086 genome.wustl.edu 37 X 105905424 105905424 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 105905424 105905424 G A SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.2158 p.D720N 0.066 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 52 16 23.53 47 0 0.00 CHDC2 286464 genome.wustl.edu 37 X 36090079 36090079 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36090079 36090079 T G SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.181 p.L61V 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC ENSG00000176034 32 4 11.11 67 0 0.00 CHDC2 286464 genome.wustl.edu 37 X 36091445 36091445 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 36091445 36091445 G A SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.380 p.G127E 0.389 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC ENSG00000176034 27 10 27.03 51 0 0.00 CHDC2 286464 genome.wustl.edu 37 X 36117987 36117987 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36117987 36117987 G T SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.843 p.Q281H 0.963 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC ENSG00000176034 35 6 14.63 92 0 0.00 CXorf61 203413 genome.wustl.edu 37 X 115593002 115593002 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 115593002 115593002 T G SNP CXorf61 ENST00000371894 human ensembl 70_37 -1 known missense c.248 p.N83T 0.096 NULL NULL - no_errors CXorf61 HGNC ENSG00000204019 58 10 14.71 120 0 0.00 CXorf64 100130613 genome.wustl.edu 37 X 125954662 125954662 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 125954662 125954662 C T SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.41 p.S14L 0.040 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 34 4 10.53 74 0 0.00 CXorf64 100130613 genome.wustl.edu 37 X 125955019 125955019 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 125955019 125955019 C T SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.398 p.S133F 0.126 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 77 27 25.96 88 0 0.00 CXorf64 100130613 genome.wustl.edu 37 X 125955255 125955255 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 125955255 125955255 T C SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.634 p.S212P 0.892 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 57 22 27.85 94 0 0.00 CXorf65 158830 genome.wustl.edu 37 X 70326096 70326096 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 70326096 70326096 G A SNP CXorf65 ENST00000483257 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CXorf65 HGNC ENSG00000204165 19 5 20.83 20 0 0.00 CXorf65 158830 genome.wustl.edu 37 X 70326271 70326271 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70326271 70326271 G A SNP CXorf65 ENST00000374251 human ensembl 70_37 -1 known nonsense c.31 p.Q11* 1.000 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 39 16 28.57 55 0 0.00 CXorf66 347487 genome.wustl.edu 37 X 139038520 139038520 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 139038520 139038520 G C SNP CXorf66 ENST00000370540 human ensembl 70_37 -1 known silent c.621 p.V207 0.000 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 83 19 18.63 56 0 0.00 CXorf66 347487 genome.wustl.edu 37 X 139038831 139038831 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 139038831 139038831 G A SNP CXorf66 ENST00000370540 human ensembl 70_37 -1 known nonsense c.310 p.Q104* 0.000 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 123 30 19.48 123 0 0.00 CXorf67 340602 genome.wustl.edu 37 X 51149908 51149908 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 51149908 51149908 C A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.40 p.Q14K 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 51 11 17.46 57 0 0.00 CXorf67 340602 genome.wustl.edu 37 X 51150246 51150246 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 51150246 51150246 G A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known silent c.378 p.Q126 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 12 5 29.41 23 0 0.00 CXorf67 340602 genome.wustl.edu 37 X 51150397 51150397 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 51150397 51150397 C T SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.529 p.P177S 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 34 13 27.08 69 0 0.00 CXorf67 340602 genome.wustl.edu 37 X 51150670 51150670 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 51150670 51150670 C T SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.802 p.R268C 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 13 6 31.58 16 0 0.00 CXorf67 340602 genome.wustl.edu 37 X 51151294 51151294 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 51151294 51151294 G A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.1426 p.E476K 0.002 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 21 19 47.50 65 0 0.00 CYB561D1 284613 genome.wustl.edu 37 1 110038388 110038388 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 1 110038388 110038388 G T SNP CYB561D1 ENST00000369868 human ensembl 70_37 +1 known missense c.263 p.C88F 1.000 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D1 HGNC ENSG00000174151 12 14 53.85 34 0 0.00 CYB561D2 11068 genome.wustl.edu 37 3 50390809 50390809 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 50390809 50390809 C T SNP CYB561D2 ENST00000232508 human ensembl 70_37 +1 known silent c.303 p.L101 0.254 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 18 4 18.18 26 0 0.00 CYB5B 80777 genome.wustl.edu 37 16 69458597 69458597 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 69458597 69458597 C G SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known nonsense c.11 p.S4* 0.001 NULL pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC ENSG00000103018 36 31 46.27 46 0 0.00 CYB5B 80777 genome.wustl.edu 37 16 69458700 69458700 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 69458700 69458700 G A SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known silent c.114 p.L38 0.254 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC ENSG00000103018 34 31 47.69 63 0 0.00 CYB5B 80777 genome.wustl.edu 37 16 69481063 69481063 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 69481063 69481063 G T SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known missense c.185 p.G62V 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC ENSG00000103018 52 49 48.51 84 0 0.00 CYB5B 80777 genome.wustl.edu 37 16 69481080 69481080 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 69481080 69481080 G A SNP CYB5B ENST00000307892 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors CYB5B HGNC ENSG00000103018 56 40 41.67 82 0 0.00 CYB5R1 51706 genome.wustl.edu 37 1 202931828 202931828 + Splice_Site SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 202931828 202931828 C G SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known splice_site c.746-1 e9-1 1.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 41 18 30.51 32 0 0.00 CYB5R1 51706 genome.wustl.edu 37 1 202933826 202933826 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 202933826 202933826 G C SNP CYB5R1 ENST00000497655 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 20 11 34.38 33 0 0.00 CYB5R1 51706 genome.wustl.edu 37 1 202935026 202935026 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 202935026 202935026 G C SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known missense c.334 p.L112V 1.000 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 94 42 30.43 112 0 0.00 CYB5R1 51706 genome.wustl.edu 37 1 202936328 202936328 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 202936328 202936328 C T SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known silent c.6 p.G2 0.787 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 60 18 23.08 68 0 0.00 CYB5R2 51700 genome.wustl.edu 37 11 7686582 7686582 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7686582 7686582 A C SNP CYB5R2 ENST00000528585 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYB5R2 HGNC ENSG00000166394 40 8 16.67 55 0 0.00 CYB5R2 51700 genome.wustl.edu 37 11 7686762 7686762 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 7686762 7686762 G A SNP CYB5R2 ENST00000299498 human ensembl 70_37 -1 known missense c.674 p.S225L 0.198 pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 34 7 17.07 33 0 0.00 CYB5R2 51700 genome.wustl.edu 37 11 7687688 7687688 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 7687688 7687688 G A SNP CYB5R2 ENST00000299498 human ensembl 70_37 -1 known missense c.652 p.P218S 1.000 pfam_OxRdtase_FAD/NAD-bd pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 58 13 18.31 70 0 0.00 CYB5R3 1727 genome.wustl.edu 37 22 43027454 43027454 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 43027454 43027454 G C SNP CYB5R3 ENST00000361740 human ensembl 70_37 -1 known missense c.255 p.I85M 0.772 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 43 14 24.56 28 0 0.00 CYB561A3 220002 genome.wustl.edu 37 11 61129412 61129412 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 61129412 61129412 G C SNP CYBASC3 ENST00000535152 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CYBASC3 HGNC ENSG00000162144 32 8 20.00 23 0 0.00 CYB561A3 220002 genome.wustl.edu 37 11 61129606 61129606 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 61129606 61129606 G C SNP CYBASC3 ENST00000535152 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYBASC3 HGNC ENSG00000162144 34 6 15.00 26 0 0.00 CYBB 1536 genome.wustl.edu 37 X 37642818 37642818 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 37642818 37642818 C T SNP CYBB ENST00000378588 human ensembl 70_37 +1 known nonsense c.217 p.R73* 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 57 12 17.39 41 0 0.00 CYBB 1536 genome.wustl.edu 37 X 37663271 37663271 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 37663271 37663271 G A SNP CYBB ENST00000378588 human ensembl 70_37 +1 known missense c.1039 p.E347K 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 69 23 25.00 101 0 0.00 CYBB 1536 genome.wustl.edu 37 X 37663318 37663318 + Silent SNP A A T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 37663318 37663318 A T SNP CYBB ENST00000378588 human ensembl 70_37 +1 known silent c.1086 p.T362 0.824 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 17 4 19.05 117 0 0.00 CYBB 1536 genome.wustl.edu 37 X 37668873 37668873 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 37668873 37668873 G A SNP CYBB ENST00000378588 human ensembl 70_37 +1 known silent c.1515 p.L505 0.986 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 56 11 16.42 72 0 0.00 CYBRD1 79901 genome.wustl.edu 37 2 172378866 172378866 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 172378866 172378866 G C SNP CYBRD1 ENST00000468308 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CYBRD1 HGNC ENSG00000071967 13 7 35.00 23 0 0.00 CYC1 1537 genome.wustl.edu 37 8 145151377 145151377 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 145151377 145151377 C G SNP CYC1 ENST00000318911 human ensembl 70_37 +1 known silent c.591 p.L197 1.000 pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1 pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 24 7 22.58 36 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22928434 22928434 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 22928434 22928434 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.311 p.R104K 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 56 18 24.32 47 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22928439 22928439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 22928439 22928439 G C SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 25 17 40.48 31 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22945110 22945110 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 22945110 22945110 C T SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.1181 p.A394V 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 9 4 30.77 40 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22990062 22990062 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 22990062 22990062 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known silent c.2682 p.L894 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 110 36 24.66 205 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22990062 22990062 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 22990062 22990062 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known silent c.2682 p.L894 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 30 14 31.82 34 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22990104 22990104 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 22990104 22990104 C T SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known silent c.2724 p.F908 0.906 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 27 10 27.03 45 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22990123 22990123 + Nonsense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 15 22990123 22990123 C T SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known nonsense c.2743 p.Q915* 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 100 52 34.21 137 0 0.00 CYFIP1 23191 genome.wustl.edu 37 15 22997803 22997803 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 22997803 22997803 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.3049 p.E1017K 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 39 16 29.09 37 0 0.00 CYGB 114757 genome.wustl.edu 37 17 74527673 74527673 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 74527673 74527673 C T SNP CYGB ENST00000293230 human ensembl 70_37 -1 known missense c.244 p.A82T 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 58 16 21.33 72 0 0.00 CYHR1 50626 genome.wustl.edu 37 8 145689761 145689761 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 145689761 145689761 C T SNP CYHR1 ENST00000306145 human ensembl 70_37 -1 known missense c.328 p.E110K 0.981 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 7 5 41.67 14 0 0.00 CYHR1 50626 genome.wustl.edu 37 8 145690218 145690218 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145690218 145690218 G C SNP CYHR1 ENST00000438911 human ensembl 70_37 -1 known missense c.67 p.L23V 1.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC ENSG00000187954 72 20 21.74 69 0 0.00 CYLC1 1538 genome.wustl.edu 37 X 83127936 83127936 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 83127936 83127936 C A SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.220 p.H74N 0.018 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 44 13 22.81 27 0 0.00 CYLC1 1538 genome.wustl.edu 37 X 83128502 83128502 + Silent SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 83128502 83128502 T C SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known silent c.786 p.D262 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 45 19 29.69 43 0 0.00 CYLC1 1538 genome.wustl.edu 37 X 83129330 83129330 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 83129330 83129330 C G SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.1614 p.I538M 0.005 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 24 26 52.00 25 0 0.00 CYLC1 1538 genome.wustl.edu 37 X 83129330 83129330 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 83129330 83129330 C G SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known missense c.1614 p.I538M 0.005 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 26 12 31.58 43 0 0.00 CYLC2 1539 genome.wustl.edu 37 9 105766986 105766986 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 105766986 105766986 G A SNP CYLC2 ENST00000374798 human ensembl 70_37 +1 putative missense c.190 p.E64K 0.447 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 23 8 25.81 38 0 0.00 CYLC2 1539 genome.wustl.edu 37 9 105767775 105767775 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 105767775 105767775 G A SNP CYLC2 ENST00000374798 human ensembl 70_37 +1 putative missense c.862 p.V288I 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 13 10 43.48 16 0 0.00 CYLD 1540 genome.wustl.edu 37 16 50783889 50783889 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 50783889 50783889 G C SNP CYLD ENST00000311559 human ensembl 70_37 +1 known missense c.280 p.E94Q 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC ENSG00000083799 12 5 29.41 9 0 0.00 CYLD 1540 genome.wustl.edu 37 16 50813848 50813848 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 50813848 50813848 G C SNP CYLD ENST00000311559 human ensembl 70_37 +1 known missense c.1411 p.E471Q 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC ENSG00000083799 46 10 17.86 69 0 0.00 CYMP 643160 genome.wustl.edu 37 1 111033838 111033838 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 111033838 111033838 G A SNP CYMP ENST00000420853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CYMP HGNC ENSG00000240194 53 14 20.90 90 0 0.00 CYP11A1 1583 genome.wustl.edu 37 15 74630935 74630935 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 74630935 74630935 C G SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known missense c.1411 p.E471Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 52 23 29.87 49 0 0.00 CYP11A1 1583 genome.wustl.edu 37 15 74630959 74630959 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 74630959 74630959 G A SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known silent c.1387 p.L463 0.034 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 52 23 30.67 79 0 0.00 CYP11A1 1583 genome.wustl.edu 37 15 74631051 74631051 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 74631051 74631051 G A SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known missense c.1295 p.P432L 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 33 12 26.67 63 0 0.00 CYP11A1 1583 genome.wustl.edu 37 15 74637400 74637400 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 15 74637400 74637400 G T SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known missense c.610 p.R204S 0.993 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 35 10 22.22 31 0 0.00 CYP11B1 1584 genome.wustl.edu 37 8 143957227 143957227 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 143957227 143957227 C T SNP CYP11B1 ENST00000292427 human ensembl 70_37 -1 known missense c.1022 p.R341H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 47 15 24.19 45 0 0.00 CYP11B1 1584 genome.wustl.edu 37 8 143961221 143961221 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 143961221 143961221 G T SNP CYP11B1 ENST00000292427 human ensembl 70_37 -1 known silent c.9 p.L3 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 3 15 83.33 63 0 0.00 CYP11B2 1585 genome.wustl.edu 37 8 143994795 143994795 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 143994795 143994795 C T SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known missense c.1027 p.E343K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 113 20 15.04 90 0 0.00 CYP11B2 1585 genome.wustl.edu 37 8 143995805 143995805 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 143995805 143995805 C A SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known nonsense c.829 p.E277* 0.633 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 44 37 45.68 36 0 0.00 CYP11B2 1585 genome.wustl.edu 37 8 143999174 143999174 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 143999174 143999174 G T SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known missense c.83 p.A28D 0.593 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 59 22 27.16 56 0 0.00 CYP17A1 1586 genome.wustl.edu 37 10 104592361 104592361 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 104592361 104592361 C T SNP CYP17A1 ENST00000369887 human ensembl 70_37 -1 known missense c.1046 p.R349H 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 22 10 30.30 23 0 0.00 CYP17A1 1586 genome.wustl.edu 37 10 104597060 104597060 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104597060 104597060 C T SNP CYP17A1 ENST00000369887 human ensembl 70_37 -1 known missense c.59 p.R20K 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 23 25 52.08 40 0 0.00 CYP17A1-AS1 414269 genome.wustl.edu 37 10 104594005 104594005 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 104594005 104594005 C T SNP CYP17A1-AS1 ENST00000369884 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors CYP17A1-AS1 HGNC ENSG00000203886 31 12 27.91 57 0 0.00 CYP19A1 1588 genome.wustl.edu 37 15 51503070 51503070 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 51503070 51503070 C T SNP CYP19A1 ENST00000260433 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 27 14 34.15 56 0 0.00 CYP1A1 1543 genome.wustl.edu 37 15 75014035 75014035 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 75014035 75014035 G T SNP CYP1A1 ENST00000379727 human ensembl 70_37 -1 known missense c.849 p.D283E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP1 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 11 16 59.26 27 0 0.00 CYP1A2 1544 genome.wustl.edu 37 15 75043622 75043622 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 15 75043622 75043622 C T SNP CYP1A2 ENST00000343932 human ensembl 70_37 +1 known silent c.924 p.V308 0.627 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 78 84 51.85 66 0 0.00 CYP1A2 1544 genome.wustl.edu 37 15 75047222 75047222 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75047222 75047222 G C SNP CYP1A2 ENST00000343932 human ensembl 70_37 +1 known missense c.1344 p.M448I 0.016 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 193 61 24.02 272 0 0.00 CYP20A1 57404 genome.wustl.edu 37 2 204131338 204131338 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 204131338 204131338 G C SNP CYP20A1 ENST00000356079 human ensembl 70_37 +1 known missense c.534 p.Q178H 0.997 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 163 39 19.31 222 0 0.00 CYP20A1 57404 genome.wustl.edu 37 2 204161618 204161618 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 204161618 204161618 C G SNP CYP20A1 ENST00000356079 human ensembl 70_37 +1 known nonsense c.1376 p.S459* 1.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 44 6 11.76 62 0 0.00 CYP21A2 1589 genome.wustl.edu 37 6 32006938 32006938 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 32006938 32006938 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.360 p.H120 0.986 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 55 12 17.91 58 0 0.00 CYP21A2 1589 genome.wustl.edu 37 6 32007219 32007219 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 32007219 32007219 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.534 p.F178 0.963 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 34 9 20.93 34 0 0.00 CYP21A2 1589 genome.wustl.edu 37 6 32008517 32008517 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 32008517 32008517 G A SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.1191 p.T397 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 21 9 30.00 24 0 0.00 CYP21A2 1589 genome.wustl.edu 37 6 32008783 32008783 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32008783 32008783 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known missense c.1360 p.P454S 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 17 3 15.00 33 0 0.00 CYP24A1 1591 genome.wustl.edu 37 20 52774666 52774666 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 52774666 52774666 C G SNP CYP24A1 ENST00000216862 human ensembl 70_37 -1 known missense c.1195 p.D399H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 20 13 39.39 28 0 0.00 CYP26A1 1592 genome.wustl.edu 37 10 94834932 94834932 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 94834932 94834932 C T SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known silent c.732 p.H244 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 35 4 10.26 37 0 0.00 CYP26A1 1592 genome.wustl.edu 37 10 94835604 94835604 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94835604 94835604 G A SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known missense c.886 p.E296K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 7 8 53.33 27 0 0.00 CYP26A1 1592 genome.wustl.edu 37 10 94836399 94836399 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 94836399 94836399 G T SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known silent c.1098 p.L366 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 45 23 33.82 49 0 0.00 CYP26B1 56603 genome.wustl.edu 37 2 72361952 72361952 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 72361952 72361952 G T SNP CYP26B1 ENST00000001146 human ensembl 70_37 -1 known missense c.799 p.L267M 0.971 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 34 4 10.53 35 0 0.00 CYP26C1 340665 genome.wustl.edu 37 10 94828206 94828206 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 94828206 94828206 C T SNP CYP26C1 ENST00000285949 human ensembl 70_37 +1 known missense c.1321 p.R441W 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 19 16 45.71 29 0 0.00 CYP27A1 1593 genome.wustl.edu 37 2 219674429 219674429 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 219674429 219674429 G A SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.385 p.D129N 0.090 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 21 4 16.00 32 0 0.00 CYP27A1 1593 genome.wustl.edu 37 2 219679158 219679158 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 219679158 219679158 G C SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.1240 p.D414H 0.044 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 51 11 17.74 44 0 0.00 CYP27A1 1593 genome.wustl.edu 37 2 219679475 219679475 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 219679475 219679475 G A SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.1471 p.A491T 0.739 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 13 5 27.78 27 0 0.00 CYP27B1 1594 genome.wustl.edu 37 12 58157567 58157567 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 58157567 58157567 C T SNP CYP27B1 ENST00000228606 human ensembl 70_37 -1 known missense c.1240 p.A414T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 20 15 42.86 22 0 0.00 CYP2A13 1553 genome.wustl.edu 37 19 41601815 41601815 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 41601815 41601815 G A SNP CYP2A13 ENST00000330436 human ensembl 70_37 +1 known missense c.1454 p.R485Q 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 39 18 31.58 105 0 0.00 CYP2A6 1548 genome.wustl.edu 37 19 41351907 41351907 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 41351907 41351907 G C SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known silent c.927 p.T309 0.975 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 89 18 16.67 95 0 0.00 CYP2A6 1548 genome.wustl.edu 37 19 41352833 41352833 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 41352833 41352833 C T SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known missense c.778 p.D260N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 51 26 33.77 93 0 0.00 CYP2A6 1548 genome.wustl.edu 37 19 41354584 41354584 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 41354584 41354584 C G SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known missense c.428 p.R143P 0.135 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 144 31 17.61 99 0 0.00 CYP2A6 1548 genome.wustl.edu 37 19 41354661 41354661 + Silent SNP T T C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 41354661 41354661 T C SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known silent c.351 p.V117 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 43 9 17.31 20 0 0.00 CYP2A7 1549 genome.wustl.edu 37 19 41381616 41381616 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41381616 41381616 C A SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.1467 p.M489I 0.873 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 31 10 24.39 57 0 0.00 CYP2A7 1549 genome.wustl.edu 37 19 41381746 41381746 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 41381746 41381746 C T SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.1337 p.R446K 0.554 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 39 28 41.79 73 0 0.00 CYP2A7 1549 genome.wustl.edu 37 19 41386426 41386426 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41386426 41386426 C T SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.451 p.E151K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 62 24 27.91 106 1 0.93 CYP2A7 1549 genome.wustl.edu 37 19 41386523 41386523 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41386523 41386523 G A SNP CYP2A7 ENST00000594332 human ensembl 70_37 -1 known missense c.191 p.S64L 0.809 NULL superfamily_Cyt_P450 - no_errors CYP2A7 HGNC ENSG00000198077 53 17 24.29 62 0 0.00 CYP2A7 1549 genome.wustl.edu 37 19 41388019 41388019 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 41388019 41388019 G C SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.97 p.L33V 0.718 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 46 47 50.54 70 0 0.00 CYP2B6 1555 genome.wustl.edu 37 19 41522627 41522627 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 41522627 41522627 C T SNP CYP2B6 ENST00000324071 human ensembl 70_37 +1 known silent c.1371 p.F457 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 42 21 33.33 59 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41445032 41445032 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41445032 41445032 C G SNP CYP2B7P1 ENST00000593298 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 70 9 11.39 33 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41447224 41447224 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 41447224 41447224 C T SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 82 24 22.64 128 1 0.78 CYP2B7P1 1556 genome.wustl.edu 37 19 41450146 41450146 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 41450146 41450146 C A SNP CYP2B7P1 ENST00000600518 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 36 4 10.00 29 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41450687 41450687 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41450687 41450687 C G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 247 81 24.55 238 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41450687 41450687 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 41450687 41450687 C G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 46 13 22.03 30 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41455118 41455118 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 41455118 41455118 G A SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.753 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 54 17 23.94 67 0 0.00 CYP2B7P1 1556 genome.wustl.edu 37 19 41455326 41455326 + RNA SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 41455326 41455326 A G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 0 2 100.00 11 0 0.00 CYP2C18 1562 genome.wustl.edu 37 10 96443712 96443712 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 96443712 96443712 G A SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.136 p.D46N 0.058 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 35 16 31.37 60 0 0.00 CYP2C18 1562 genome.wustl.edu 37 10 96447906 96447906 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 96447906 96447906 G C SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.356 p.R119T 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 56 20 26.32 120 1 0.83 CYP2C18 1562 genome.wustl.edu 37 10 96493117 96493117 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 96493117 96493117 G A SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.1213 p.E405K 0.746 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 39 17 30.36 43 0 0.00 CYP2C19 1557 genome.wustl.edu 37 10 96522580 96522580 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 96522580 96522580 G C SNP CYP2C19 ENST00000371321 human ensembl 70_37 +1 known missense c.118 p.G40R 0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 35 20 36.36 59 0 0.00 CYP2C19 1557 genome.wustl.edu 37 10 96580375 96580375 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 96580375 96580375 G A SNP CYP2C19 ENST00000371321 human ensembl 70_37 +1 known silent c.942 p.L314 0.879 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 77 35 31.25 64 0 0.00 CYP2C9 1559 genome.wustl.edu 37 10 96702004 96702004 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 96702004 96702004 G A SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.387 p.M129I 0.989 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 152 30 16.48 174 0 0.00 CYP2C9 1559 genome.wustl.edu 37 10 96741048 96741048 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 96741048 96741048 G C SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.1070 p.R357T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 57 36 38.30 47 0 0.00 CYP2C9 1559 genome.wustl.edu 37 10 96741062 96741062 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 96741062 96741062 C T SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.1084 p.L362F 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 36 9 20.00 96 0 0.00 CYP2D6 1565 genome.wustl.edu 37 22 42525885 42525885 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 42525885 42525885 G A SNP CYP2D6 ENST00000360608 human ensembl 70_37 -1 known silent c.207 p.F69 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 37 14 27.45 44 0 0.00 CYP2E1 1571 genome.wustl.edu 37 10 135345141 135345141 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 135345141 135345141 G C SNP CYP2E1 ENST00000252945 human ensembl 70_37 +1 known silent c.390 p.L130 0.958 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 20 8 28.57 28 0 0.00 CYP2E1 1571 genome.wustl.edu 37 10 135352373 135352373 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 135352373 135352373 C G SNP CYP2E1 ENST00000252945 human ensembl 70_37 +1 known missense c.1387 p.L463V 0.230 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 57 25 30.49 72 0 0.00 CYP2F1 1572 genome.wustl.edu 37 19 41627918 41627918 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41627918 41627918 C T SNP CYP2F1 ENST00000331105 human ensembl 70_37 +1 known silent c.702 p.I234 0.195 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 64 72 52.94 67 0 0.00 CYP2F1 1572 genome.wustl.edu 37 19 41627930 41627930 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41627930 41627930 C T SNP CYP2F1 ENST00000331105 human ensembl 70_37 +1 known silent c.714 p.F238 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 65 70 51.85 73 0 0.00 CYP2F1 1572 genome.wustl.edu 37 19 41630665 41630665 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 41630665 41630665 C T SNP CYP2F1 ENST00000331105 human ensembl 70_37 +1 known missense c.1006 p.R336W 0.951 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 17 7 29.17 27 0 0.00 CYP2G1P 22952 genome.wustl.edu 37 19 41397180 41397180 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 41397180 41397180 C T SNP CYP2G1P ENST00000252909 human ensembl 70_37 +1 known rna NULL NULL 0.682 - - - no_errors CYP2G1P HGNC ENSG00000130612 71 11 13.41 64 0 0.00 CYP2J2 1573 genome.wustl.edu 37 1 60359403 60359403 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 60359403 60359403 C T SNP CYP2J2 ENST00000371204 human ensembl 70_37 -1 known missense c.1429 p.E477K 0.743 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 59 31 34.44 72 0 0.00 CYP2J2 1573 genome.wustl.edu 37 1 60377293 60377293 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 60377293 60377293 G A SNP CYP2J2 ENST00000371204 human ensembl 70_37 -1 known missense c.671 p.S224L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 23 4 14.81 30 0 0.00 CYP2J2 1573 genome.wustl.edu 37 1 60377994 60377994 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 60377994 60377994 G C SNP CYP2J2 ENST00000492633 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP2J2 HGNC ENSG00000134716 18 11 37.93 38 0 0.00 CYP2R1 120227 genome.wustl.edu 37 11 14901774 14901774 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 14901774 14901774 G A SNP CYP2R1 ENST00000334636 human ensembl 70_37 -1 known missense c.908 p.S303L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC ENSG00000186104 54 26 32.50 64 0 0.00 CYP2S1 29785 genome.wustl.edu 37 19 41704766 41704766 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 41704766 41704766 C T SNP CYP2S1 ENST00000310054 human ensembl 70_37 +1 known silent c.807 p.V269 0.070 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 30 24 44.44 28 0 0.00 CYP2U1 113612 genome.wustl.edu 37 4 108871578 108871578 + Nonstop_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 108871578 108871578 G T SNP CYP2U1 ENST00000332884 human ensembl 70_37 +1 known nonstop c.1634 p.*545L 0.977 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 18 3 14.29 66 0 0.00 CYP2W1 54905 genome.wustl.edu 37 7 1022953 1022953 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 1022953 1022953 C T SNP CYP2W1 ENST00000308919 human ensembl 70_37 +1 known missense c.106 p.R36C 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 27 12 30.77 23 0 0.00 CYP39A1 51302 genome.wustl.edu 37 6 46604179 46604179 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 46604179 46604179 C T SNP CYP39A1 ENST00000275016 human ensembl 70_37 -1 known missense c.679 p.E227K 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 23 6 20.69 24 0 0.00 CYP39A1 51302 genome.wustl.edu 37 6 46605600 46605600 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 46605600 46605600 C G SNP CYP39A1 ENST00000275016 human ensembl 70_37 -1 known missense c.604 p.E202Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 14 15 51.72 19 0 0.00 CYP3A43 64816 genome.wustl.edu 37 7 99436308 99436308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99436308 99436308 G A SNP CYP3A43 ENST00000417625 human ensembl 70_37 +1 novel silent c.174 p.L58 0.042 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 28 20 41.67 28 0 0.00 CYP3A43 64816 genome.wustl.edu 37 7 99445165 99445165 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99445165 99445165 G A SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.373 p.E125K 0.248 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 35 24 40.68 32 0 0.00 CYP3A43 64816 genome.wustl.edu 37 7 99445165 99445165 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99445165 99445165 G A SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.373 p.E125K 0.248 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 62 43 40.95 115 0 0.00 CYP3A43 64816 genome.wustl.edu 37 7 99453276 99453276 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 99453276 99453276 G C SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.733 p.V245L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 11 9 45.00 14 0 0.00 CYP3A5 1577 genome.wustl.edu 37 7 99262807 99262807 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99262807 99262807 G C SNP CYP3A5 ENST00000222982 human ensembl 70_37 -1 known missense c.652 p.P218A 0.951 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 18 20 52.63 26 0 0.00 CYP3A5 1577 genome.wustl.edu 37 7 99264297 99264297 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 99264297 99264297 C T SNP CYP3A5 ENST00000222982 human ensembl 70_37 -1 known missense c.448 p.A150T 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 34 4 10.53 38 0 0.00 CYP3A7 1551 genome.wustl.edu 37 7 99305594 99305594 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 99305594 99305594 G A SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known silent c.1257 p.F419 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 55 46 45.54 70 0 0.00 CYP3A7 1551 genome.wustl.edu 37 7 99311102 99311102 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99311102 99311102 C T SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known silent c.855 p.E285 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 37 21 36.21 70 0 0.00 CYP3A7 1551 genome.wustl.edu 37 7 99313407 99313407 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 99313407 99313407 G A SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known missense c.644 p.P215L 0.004 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 58 10 14.71 53 0 0.00 CYP46A1 10858 genome.wustl.edu 37 14 100192553 100192553 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 100192553 100192553 C G SNP CYP46A1 ENST00000261835 human ensembl 70_37 +1 known missense c.1292 p.S431C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 23 14 37.84 31 0 0.00 CYP4A11 1579 genome.wustl.edu 37 1 47395691 47395691 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 47395691 47395691 G A SNP CYP4A11 ENST00000462347 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CYP4A11 HGNC ENSG00000187048 23 14 37.84 30 0 0.00 CYP4A22 284541 genome.wustl.edu 37 1 47606478 47606478 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 47606478 47606478 G C SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known silent c.222 p.R74 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 47 28 37.33 68 0 0.00 CYP4A22 284541 genome.wustl.edu 37 1 47609027 47609027 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 47609027 47609027 G C SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known missense c.597 p.K199N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 37 33 47.14 96 0 0.00 CYP4A22 284541 genome.wustl.edu 37 1 47610227 47610227 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 47610227 47610227 G A SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known silent c.903 p.E301 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 41 11 21.15 59 0 0.00 CYP4A22 284541 genome.wustl.edu 37 1 47610594 47610594 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 47610594 47610594 G C SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known missense c.1174 p.E392Q 0.049 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 36 9 20.00 57 0 0.00 CYP4B1 1580 genome.wustl.edu 37 1 47278271 47278271 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 47278271 47278271 C T SNP CYP4B1 ENST00000371923 human ensembl 70_37 +1 known silent c.471 p.F157 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 42 19 31.15 40 0 0.00 CYP4F11 57834 genome.wustl.edu 37 19 16032932 16032932 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 16032932 16032932 G A SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known missense c.1030 p.L344F 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 45 32 41.56 66 0 0.00 CYP4F11 57834 genome.wustl.edu 37 19 16033213 16033213 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 16033213 16033213 C T SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known missense c.946 p.E316K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 22 26 54.17 93 0 0.00 CYP4F11 57834 genome.wustl.edu 37 19 16045204 16045204 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 16045204 16045204 G A SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known silent c.15 p.S5 0.511 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 26 9 25.71 20 0 0.00 CYP4F12 66002 genome.wustl.edu 37 19 15806798 15806798 + Missense_Mutation SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 15806798 15806798 A T SNP CYP4F12 ENST00000324632 human ensembl 70_37 +1 known missense c.1168 p.R390W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 30 28 48.28 29 0 0.00 CYP4F12 66002 genome.wustl.edu 37 19 15807267 15807267 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15807267 15807267 G C SNP CYP4F12 ENST00000324632 human ensembl 70_37 +1 known missense c.1342 p.E448Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 29 26 47.27 48 0 0.00 CYP4F2 8529 genome.wustl.edu 37 19 15989730 15989730 + Missense_Mutation SNP T T C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 15989730 15989730 T C SNP CYP4F2 ENST00000221700 human ensembl 70_37 -1 known missense c.1414 p.T472A 0.989 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 48 8 14.29 36 0 0.00 CYP4F2 8529 genome.wustl.edu 37 19 16000293 16000293 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 16000293 16000293 G A SNP CYP4F2 ENST00000221700 human ensembl 70_37 -1 known silent c.858 p.F286 0.221 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 29 12 29.27 40 0 0.00 CYP4F22 126410 genome.wustl.edu 37 19 15648399 15648399 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 15648399 15648399 C T SNP CYP4F22 ENST00000269703 human ensembl 70_37 +1 known silent c.475 p.L159 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 30 4 11.76 37 0 0.00 CYP4F24P 388514 genome.wustl.edu 37 19 15870967 15870967 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 15870967 15870967 C G SNP CYP4F24P ENST00000587443 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP4F24P HGNC ENSG00000267594 21 15 41.67 41 0 0.00 CYP4F24P 388514 genome.wustl.edu 37 19 15890551 15890551 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15890551 15890551 C G SNP CYP4F24P ENST00000587443 human ensembl 70_37 -1 known rna NULL NULL 0.066 - - - no_errors CYP4F24P HGNC ENSG00000267594 104 32 23.53 137 0 0.00 CYP4F29P 54055 genome.wustl.edu 37 21 15219144 15219145 + RNA INS - - T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 21 15219144 15219145 - T INS CYP4F29P ENST00000428301 human ensembl 70_37 -1 known rna NULL NULL 0.322:0.327 - - - no_errors CYP4F29P HGNC ENSG00000228314 9 2 18.18 38 0 0.00 CYP4F3 4051 genome.wustl.edu 37 19 15769098 15769098 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15769098 15769098 C T SNP CYP4F3 ENST00000221307 human ensembl 70_37 +1 known silent c.1140 p.F380 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 53 42 43.75 87 0 0.00 CYP4F3 4051 genome.wustl.edu 37 19 15770127 15770127 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15770127 15770127 C T SNP CYP4F3 ENST00000221307 human ensembl 70_37 +1 known missense c.1495 p.R499C 0.422 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 64 22 25.29 134 0 0.00 CYP4F35P 284233 genome.wustl.edu 37 18 14337528 14337528 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 14337528 14337528 G T SNP CYP4F35P ENST00000582957 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors CYP4F35P HGNC ENSG00000265787 33 4 10.81 40 0 0.00 CYP4F43P 646802 genome.wustl.edu 37 2 130748038 130748038 + RNA SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 130748038 130748038 G A SNP CYP4F43P ENST00000440931 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 37 5 11.90 57 0 0.00 CYP4F43P 646802 genome.wustl.edu 37 2 130798022 130798022 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 130798022 130798022 A G SNP CYP4F43P ENST00000325390 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 19 7 26.92 35 0 0.00 CYP4F43P 646802 genome.wustl.edu 37 2 130807424 130807424 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 130807424 130807424 C G SNP CYP4F43P ENST00000325390 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 58 36 38.30 63 0 0.00 CYP4F43P 646802 genome.wustl.edu 37 2 131188931 131188931 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131188931 131188931 C T SNP CYP4F43P ENST00000455215 human ensembl 70_37 -1 known rna NULL NULL 0.760 - - - no_errors CYP4F43P HGNC ENSG00000239402 13 6 31.58 15 0 0.00 CYP4V2 285440 genome.wustl.edu 37 4 187115763 187115763 + Silent SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 187115763 187115763 G T SNP CYP4V2 ENST00000378802 human ensembl 70_37 +1 known silent c.324 p.V108 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC ENSG00000145476 27 24 47.06 74 0 0.00 CYP4X1 260293 genome.wustl.edu 37 1 47489649 47489649 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 47489649 47489649 T C SNP CYP4X1 ENST00000371901 human ensembl 70_37 +1 known missense c.160 p.F54L 0.290 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 31 15 32.61 71 0 0.00 CYP4Z1 199974 genome.wustl.edu 37 1 47571830 47571830 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 47571830 47571830 G A SNP CYP4Z1 ENST00000334194 human ensembl 70_37 +1 known silent c.1098 p.T366 0.964 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 167 44 20.85 261 0 0.00 CYP4Z2P 163720 genome.wustl.edu 37 1 47338925 47338925 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 47338925 47338925 C G SNP CYP4Z2P ENST00000505841 human ensembl 70_37 -1 known rna NULL NULL 0.879 - - - no_errors CYP4Z2P HGNC ENSG00000154198 32 22 40.74 26 0 0.00 CYP4Z2P 163720 genome.wustl.edu 37 1 47338925 47338925 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 47338925 47338925 C G SNP CYP4Z2P ENST00000505841 human ensembl 70_37 -1 known rna NULL NULL 0.879 - - - no_errors CYP4Z2P HGNC ENSG00000154198 33 21 38.18 49 0 0.00 CYP4Z2P 163720 genome.wustl.edu 37 1 47348924 47348924 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 47348924 47348924 G A SNP CYP4Z2P ENST00000505841 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors CYP4Z2P HGNC ENSG00000154198 42 7 14.29 63 0 0.00 CYP7A1 1581 genome.wustl.edu 37 8 59404293 59404293 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 59404293 59404293 G C SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known missense c.1256 p.T419R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 23 16 41.03 42 0 0.00 CYP7A1 1581 genome.wustl.edu 37 8 59405044 59405044 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 59405044 59405044 G A SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known silent c.1083 p.L361 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 25 15 37.50 51 0 0.00 CYP7A1 1581 genome.wustl.edu 37 8 59410991 59410991 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 59410991 59410991 G T SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known missense c.118 p.P40T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 34 4 10.53 44 0 0.00 CYP7B1 9420 genome.wustl.edu 37 8 65509246 65509246 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 65509246 65509246 G A SNP CYP7B1 ENST00000310193 human ensembl 70_37 -1 known nonsense c.1474 p.Q492* 0.487 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 37 7 15.91 45 0 0.00 CYP7B1 9420 genome.wustl.edu 37 8 65527718 65527718 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 65527718 65527718 G A SNP CYP7B1 ENST00000310193 human ensembl 70_37 -1 known missense c.922 p.L308F 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 41 8 16.33 63 0 0.00 CYP8B1 1582 genome.wustl.edu 37 3 42917302 42917302 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 42917302 42917302 G A SNP CYP8B1 ENST00000316161 human ensembl 70_37 -1 known missense c.7 p.L3F 0.097 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 18 7 28.00 31 0 0.00 CYR61 3491 genome.wustl.edu 37 1 86048260 86048260 + Missense_Mutation SNP A A T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 86048260 86048260 A T SNP CYR61 ENST00000451137 human ensembl 70_37 +1 known missense c.796 p.I266F 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC ENSG00000142871 23 24 51.06 28 0 0.00 CYSLTR1 10800 genome.wustl.edu 37 X 77528275 77528275 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 77528275 77528275 C T SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known silent c.969 p.K323 0.973 prints_CLT1_recept pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC ENSG00000173198 10 8 44.44 28 0 0.00 CYSLTR1 10800 genome.wustl.edu 37 X 77528893 77528893 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 77528893 77528893 C T SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.351 p.M117I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC ENSG00000173198 52 8 13.33 65 0 0.00 CYSLTR1 10800 genome.wustl.edu 37 X 77529174 77529174 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 77529174 77529174 G C SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.70 p.Q24E 1.000 prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC ENSG00000173198 24 30 55.56 37 0 0.00 CYSLTR1 10800 genome.wustl.edu 37 X 77529174 77529174 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 77529174 77529174 G C SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.70 p.Q24E 1.000 prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC ENSG00000173198 67 42 38.53 77 0 0.00 CYSLTR2 57105 genome.wustl.edu 37 13 49281162 49281162 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 49281162 49281162 C T SNP CYSLTR2 ENST00000282018 human ensembl 70_37 +1 known missense c.209 p.S70F 0.000 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC ENSG00000152207 20 15 42.86 24 0 0.00 CYTH1 9267 genome.wustl.edu 37 17 76672041 76672041 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 76672041 76672041 G A SNP CYTH1 ENST00000589296 human ensembl 70_37 -1 putative silent c.174 p.F58 1.000 NULL NULL - no_errors CYTH1 HGNC ENSG00000108669 37 8 17.78 20 0 0.00 CYTH1 9267 genome.wustl.edu 37 17 76672235 76672235 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 76672235 76672235 C A SNP CYTH1 ENST00000361101 human ensembl 70_37 -1 known missense c.1135 p.D379Y 1.000 smart_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH1 HGNC ENSG00000108669 33 4 10.81 40 0 0.00 CYTH1 9267 genome.wustl.edu 37 17 76676417 76676417 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 76676417 76676417 C G SNP CYTH1 ENST00000361101 human ensembl 70_37 -1 known missense c.973 p.E325Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH1 HGNC ENSG00000108669 20 5 20.00 52 0 0.00 CYTH2 9266 genome.wustl.edu 37 19 48981704 48981704 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 48981704 48981704 G C SNP CYTH2 ENST00000427476 human ensembl 70_37 +1 known missense c.970 p.E324Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH2 HGNC ENSG00000105443 30 13 30.23 30 0 0.00 CYTH3 9265 genome.wustl.edu 37 7 6204918 6204918 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6204918 6204918 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known nonsense c.1113 p.W371* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 34 16 32.00 46 0 0.00 CYTH3 9265 genome.wustl.edu 37 7 6204977 6204977 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6204977 6204977 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known missense c.1054 p.E352K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 52 23 30.67 56 0 0.00 CYTH3 9265 genome.wustl.edu 37 7 6209731 6209731 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6209731 6209731 G T SNP CYTH3 ENST00000465320 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CYTH3 HGNC ENSG00000008256 30 17 36.17 42 0 0.00 CYTH3 9265 genome.wustl.edu 37 7 6210586 6210586 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 6210586 6210586 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known missense c.586 p.A196T 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 53 23 29.87 103 0 0.00 CYTIP 9595 genome.wustl.edu 37 2 158272376 158272376 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 158272376 158272376 G A SNP CYTIP ENST00000264192 human ensembl 70_37 -1 known missense c.893 p.S298F 0.958 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 24 15 38.46 34 0 0.00 CYTIP 9595 genome.wustl.edu 37 2 158300367 158300367 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 158300367 158300367 G A SNP CYTIP ENST00000264192 human ensembl 70_37 -1 known nonsense c.166 p.R56* 0.591 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 70 15 17.65 103 0 0.00 CYYR1 116159 genome.wustl.edu 37 21 27852628 27852628 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 27852628 27852628 G C SNP CYYR1 ENST00000299340 human ensembl 70_37 -1 known silent c.297 p.L99 1.000 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 27 25 48.08 35 0 0.00 D2HGDH 728294 genome.wustl.edu 37 2 242688385 242688385 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242688385 242688385 C T SNP D2HGDH ENST00000537090 human ensembl 70_37 +1 known missense c.959 p.S320L 0.011 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors D2HGDH HGNC ENSG00000180902 6 19 76.00 35 0 0.00 D2HGDH 728294 genome.wustl.edu 37 2 242695372 242695372 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242695372 242695372 G A SNP D2HGDH ENST00000321264 human ensembl 70_37 +1 known missense c.1249 p.D417N 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 5 11 68.75 26 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59782054 59782054 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 59782054 59782054 C G SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.330 p.L110 0.494 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 157 50 24.15 200 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59789712 59789712 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 59789712 59789712 C G SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.543 p.L181 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 31 17 35.42 54 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59789812 59789812 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 59789812 59789812 G C SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known missense c.643 p.E215Q 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 17 18 51.43 29 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59792443 59792443 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 59792443 59792443 G C SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known missense c.1051 p.E351Q 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 48 12 20.00 68 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59806896 59806896 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 59806896 59806896 G C SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.2103 p.S701 0.062 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 24 8 25.00 31 0 0.00 DAAM1 23002 genome.wustl.edu 37 14 59821958 59821958 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 59821958 59821958 G A SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known missense c.2462 p.G821E 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 174 41 18.98 221 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39835482 39835482 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39835482 39835482 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.625 p.R209C 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 33 6 15.38 58 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39835530 39835530 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 39835530 39835530 G A SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.673 p.A225T 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 35 19 35.19 63 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39843173 39843173 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 39843173 39843173 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known silent c.1230 p.L410 0.948 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 50 10 16.67 44 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39846355 39846355 + Silent SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 39846355 39846355 T C SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known silent c.1536 p.S512 0.983 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 10 7 41.18 9 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39847006 39847006 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39847006 39847006 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.1598 p.S533F 0.950 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 53 17 24.29 42 0 0.00 DAAM2 23500 genome.wustl.edu 37 6 39856471 39856471 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39856471 39856471 G A SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.2077 p.E693K 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 74 17 18.68 46 0 0.00 DAB1 1600 genome.wustl.edu 37 1 57480998 57480998 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 57480998 57480998 C T SNP DAB1 ENST00000371231 human ensembl 70_37 -1 known silent c.1101 p.P367 0.243 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC ENSG00000173406 86 24 21.82 114 1 0.87 DAB1 1600 genome.wustl.edu 37 1 57481088 57481088 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 57481088 57481088 G A SNP DAB1 ENST00000371231 human ensembl 70_37 -1 known silent c.1011 p.G337 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC ENSG00000173406 41 8 16.33 30 0 0.00 DAB2 1601 genome.wustl.edu 37 5 39382892 39382892 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 39382892 39382892 G C SNP DAB2 ENST00000320816 human ensembl 70_37 -1 known missense c.1169 p.S390C 0.986 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 20 20 50.00 27 0 0.00 DAB2 1601 genome.wustl.edu 37 5 39382903 39382903 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 39382903 39382903 C G SNP DAB2 ENST00000320816 human ensembl 70_37 -1 known missense c.1158 p.Q386H 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 81 15 15.62 57 0 0.00 DAB2 1601 genome.wustl.edu 37 5 39394478 39394478 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 39394478 39394478 G A SNP DAB2 ENST00000513052 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors DAB2 HGNC ENSG00000153071 22 20 47.62 35 0 0.00 DAB2IP 153090 genome.wustl.edu 37 9 124522191 124522191 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 124522191 124522191 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.643 p.L215 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 38 11 22.45 44 0 0.00 DAB2IP 153090 genome.wustl.edu 37 9 124522649 124522649 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 124522649 124522649 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.1101 p.L367 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 54 7 11.48 103 0 0.00 DAB2IP 153090 genome.wustl.edu 37 9 124534964 124534964 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 124534964 124534964 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.2157 p.V719 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 27 12 30.77 54 0 0.00 DACH1 1602 genome.wustl.edu 37 13 72049919 72049919 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 72049919 72049919 C G SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.2095 p.E699Q 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 85 17 16.67 88 0 0.00 DACH1 1602 genome.wustl.edu 37 13 72134009 72134009 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 72134009 72134009 G A SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.1540 p.R514C 0.999 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 12 7 36.84 25 0 0.00 DACH1 1602 genome.wustl.edu 37 13 72204688 72204688 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 13 72204688 72204688 C T SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.1132 p.G378S 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 26 17 39.53 41 0 0.00 DACH1 1602 genome.wustl.edu 37 13 72440795 72440795 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 13 72440795 72440795 G A SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.113 p.S38L 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 13 26 66.67 45 0 0.00 DACH2 117154 genome.wustl.edu 37 X 85404062 85404062 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 85404062 85404062 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known silent c.438 p.L146 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 59 21 26.25 48 0 0.00 DACH2 117154 genome.wustl.edu 37 X 85769284 85769284 + Nonsense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 X 85769284 85769284 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known nonsense c.530 p.S177* 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 32 6 15.79 43 0 0.00 DACH2 117154 genome.wustl.edu 37 X 85997720 85997720 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 85997720 85997720 G T SNP DACH2 ENST00000461604 human ensembl 70_37 +1 known missense c.1315 p.D439Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 40 20 33.33 84 0 0.00 DACH2 117154 genome.wustl.edu 37 X 86067873 86067873 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 86067873 86067873 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known missense c.1255 p.Q419E 0.970 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 49 16 24.62 36 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59112032 59112032 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 14 59112032 59112032 G A SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.691 p.A231T 0.142 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 37 18 32.73 44 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59112964 59112964 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 14 59112964 59112964 G A SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known silent c.1623 p.K541 0.992 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 98 43 30.50 117 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59113006 59113006 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 59113006 59113006 C T SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known silent c.1665 p.V555 0.657 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 13 5 27.78 28 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59113114 59113114 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 59113114 59113114 C G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known silent c.1773 p.L591 0.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 18 8 30.77 23 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59113479 59113479 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 59113479 59113479 A G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2138 p.Y713C 0.012 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 14 11 44.00 32 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59113479 59113479 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 59113479 59113479 A G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2138 p.Y713C 0.012 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 29 23 44.23 54 0 0.00 DACT1 51339 genome.wustl.edu 37 14 59113812 59113812 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 59113812 59113812 G A SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2471 p.R824H 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 26 12 30.77 43 0 0.00 DACT2 168002 genome.wustl.edu 37 6 168708148 168708148 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 168708148 168708148 G A SNP DACT2 ENST00000366795 human ensembl 70_37 -1 known silent c.2289 p.F763 1.000 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 17 27 61.36 43 0 0.00 DACT2 168002 genome.wustl.edu 37 6 168708526 168708526 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 168708526 168708526 C T SNP DACT2 ENST00000366795 human ensembl 70_37 -1 known silent c.1911 p.R637 0.010 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 6 6 50.00 12 0 0.00 DAD1 1603 genome.wustl.edu 37 14 23043981 23043981 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23043981 23043981 C T SNP DAD1 ENST00000489532 human ensembl 70_37 -1 known rna NULL NULL 0.480 - - - no_errors DAD1 HGNC ENSG00000129562 125 29 18.83 140 0 0.00 DAG1 1605 genome.wustl.edu 37 3 49568587 49568587 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 49568587 49568587 C T SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.643 p.R215W 0.991 NULL pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 18 13 41.94 31 0 0.00 DAG1 1605 genome.wustl.edu 37 3 49569062 49569062 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 49569062 49569062 G A SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.1118 p.R373Q 0.989 NULL pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 32 4 11.11 47 0 0.00 DAG1 1605 genome.wustl.edu 37 3 49570228 49570228 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49570228 49570228 G T SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.2284 p.A762S 1.000 pfam_DAG1 pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 20 3 13.04 40 0 0.00 DAGLA 747 genome.wustl.edu 37 11 61491027 61491027 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 61491027 61491027 G A SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known silent c.531 p.L177 0.998 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 3 19 86.36 37 0 0.00 DAGLA 747 genome.wustl.edu 37 11 61503241 61503241 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 61503241 61503241 G C SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known missense c.1243 p.E415Q 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 39 11 22.00 45 0 0.00 DAGLA 747 genome.wustl.edu 37 11 61504725 61504725 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 61504725 61504725 C G SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known silent c.1443 p.L481 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 96 37 27.82 115 0 0.00 DAGLA 747 genome.wustl.edu 37 11 61507102 61507102 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 11 61507102 61507102 G A SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known missense c.1822 p.V608M 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 48 8 14.29 90 0 0.00 DAGLB 221955 genome.wustl.edu 37 7 6474474 6474474 + Silent SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 6474474 6474474 G T SNP DAGLB ENST00000297056 human ensembl 70_37 -1 known silent c.597 p.L199 0.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 45 42 48.28 71 0 0.00 DAGLB 221955 genome.wustl.edu 37 7 6487442 6487442 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6487442 6487442 C T SNP DAGLB ENST00000297056 human ensembl 70_37 -1 known nonsense c.32 p.W11* 1.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 24 23 48.94 50 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49053403 49053403 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49053403 49053403 C A SNP DALRD3 ENST00000440857 human ensembl 70_37 -1 novel silent c.945 p.V315 0.155 NULL superfamily_tRNAsynth_1a_anticodon-bd - no_errors DALRD3 HGNC ENSG00000178149 49 18 26.87 92 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49053409 49053409 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49053409 49053409 C T SNP DALRD3 ENST00000441576 human ensembl 70_37 -1 known missense c.1414 p.D472N 1.000 NULL NULL - no_errors DALRD3 HGNC ENSG00000178149 49 16 24.62 92 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49054257 49054257 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 49054257 49054257 C T SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known silent c.951 p.V317 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 47 13 21.67 83 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49054734 49054734 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49054734 49054734 C G SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.854 p.C285S 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 71 16 18.39 152 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49054887 49054887 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49054887 49054887 C G SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.778 p.E260Q 0.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 34 11 24.44 63 0 0.00 DALRD3 55152 genome.wustl.edu 37 3 49055216 49055216 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49055216 49055216 G A SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.548 p.S183L 0.001 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 22 9 29.03 50 0 0.00 DAO 1610 genome.wustl.edu 37 12 109270566 109270566 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 109270566 109270566 G C SNP DAO ENST00000548052 human ensembl 70_37 +1 known rna NULL NULL 0.089 - - - no_errors DAO HGNC ENSG00000110887 10 8 44.44 15 0 0.00 DAO 1610 genome.wustl.edu 37 12 109277522 109277522 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 109277522 109277522 G A SNP DAO ENST00000548052 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAO HGNC ENSG00000110887 17 8 32.00 23 0 0.00 DAO 1610 genome.wustl.edu 37 12 109293228 109293228 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 109293228 109293228 C T SNP DAO ENST00000228476 human ensembl 70_37 +1 known missense c.889 p.R297C 0.001 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 32 6 15.79 34 0 0.00 DAOA 267012 genome.wustl.edu 37 13 106142333 106142333 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 106142333 106142333 G A SNP DAOA ENST00000375936 human ensembl 70_37 +1 known missense c.365 p.R122H 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 14 4 22.22 36 0 0.00 DAOA 267012 genome.wustl.edu 37 13 106142425 106142425 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 13 106142425 106142425 G T SNP DAOA ENST00000375936 human ensembl 70_37 +1 known nonsense c.457 p.E153* 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 12 15 55.56 31 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155658795 155658795 + RNA SNP G G T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 155658795 155658795 G T SNP DAP3 ENST00000461479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 57 9 13.64 33 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155658957 155658957 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155658957 155658957 C A SNP DAP3 ENST00000461479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 15 9 37.50 17 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155695199 155695199 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155695199 155695199 G C SNP DAP3 ENST00000343043 human ensembl 70_37 +1 known silent c.297 p.L99 0.997 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 155 127 45.04 224 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155695905 155695905 + RNA DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155695905 155695905 T - DEL DAP3 ENST00000471523 human ensembl 70_37 +1 known rna NULL NULL 0.109 - - - no_errors DAP3 HGNC ENSG00000132676 49 10 16.95 65 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155697372 155697372 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 155697372 155697372 G A SNP DAP3 ENST00000466384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 108 40 26.67 80 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155701224 155701224 + RNA SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 155701224 155701224 C G SNP DAP3 ENST00000497433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 63 9 12.50 85 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155701230 155701230 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155701230 155701230 C T SNP DAP3 ENST00000497433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 93 31 25.00 52 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155701849 155701849 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 155701849 155701849 C G SNP DAP3 ENST00000462978 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC ENSG00000132676 31 18 36.73 59 0 0.00 DAP3 7818 genome.wustl.edu 37 1 155707959 155707959 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155707959 155707959 G C SNP DAP3 ENST00000343043 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 20 14 41.18 20 0 0.00 DAPK1 1612 genome.wustl.edu 37 9 90220066 90220066 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 90220066 90220066 C T SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known missense c.260 p.T87M 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 19 15 44.12 25 0 0.00 DAPK1 1612 genome.wustl.edu 37 9 90220066 90220066 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 90220066 90220066 C T SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known missense c.260 p.T87M 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 21 13 38.24 54 0 0.00 DAPK1 1612 genome.wustl.edu 37 9 90296363 90296363 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 90296363 90296363 G A SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known silent c.2046 p.Q682 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 31 12 27.91 21 0 0.00 DAPK1 1612 genome.wustl.edu 37 9 90301515 90301515 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 90301515 90301515 G A SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known silent c.2274 p.V758 0.993 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 94 24 20.34 78 0 0.00 DAPK1 1612 genome.wustl.edu 37 9 90321375 90321375 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 9 90321375 90321375 G A SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known missense c.3464 p.R1155H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 53 14 20.90 81 0 0.00 DAPK2 23604 genome.wustl.edu 37 15 64204182 64204182 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 64204182 64204182 G A SNP DAPK2 ENST00000261891 human ensembl 70_37 -1 known silent c.957 p.F319 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 30 6 16.67 30 0 0.00 DAPK2 23604 genome.wustl.edu 37 15 64204322 64204322 + Silent SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 15 64204322 64204322 G T SNP DAPK2 ENST00000261891 human ensembl 70_37 -1 known silent c.933 p.V311 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 17 4 19.05 27 0 0.00 DAPK2 23604 genome.wustl.edu 37 15 64215050 64215050 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 64215050 64215050 C G SNP DAPK2 ENST00000558069 human ensembl 70_37 -1 putative missense c.1351 p.E451Q 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 48 8 14.29 42 0 0.00 DAPK2 23604 genome.wustl.edu 37 15 64215459 64215459 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 64215459 64215459 G C SNP DAPK2 ENST00000558069 human ensembl 70_37 -1 putative silent c.942 p.L314 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 86 12 12.24 102 0 0.00 DAPK2 23604 genome.wustl.edu 37 15 64217033 64217033 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 64217033 64217033 G C SNP DAPK2 ENST00000261891 human ensembl 70_37 -1 known silent c.840 p.L280 0.529 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 62 18 22.50 124 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3959476 3959476 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3959476 3959476 C G SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.988 p.E330Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 15 4 21.05 8 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3959554 3959554 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 3959554 3959554 C T SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.910 p.E304K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 22 16 42.11 25 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964264 3964264 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964264 3964264 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.531 p.I177M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 20 12 37.50 41 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964273 3964273 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3964273 3964273 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.522 p.F174L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 53 12 18.46 48 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964677 3964677 + Silent SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 3964677 3964677 G A SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.375 p.D125 0.828 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 228 36 13.58 242 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964692 3964692 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 3964692 3964692 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.360 p.L120 0.954 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 36 12 25.00 51 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964695 3964695 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964695 3964695 G A SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.357 p.F119 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 36 25 40.98 44 0 0.00 DAPK3 1613 genome.wustl.edu 37 19 3964824 3964824 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3964824 3964824 G A SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.228 p.I76 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 73 41 35.96 105 0 0.00 DAPL1 92196 genome.wustl.edu 37 2 159682992 159682992 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 159682992 159682992 G C SNP DAPL1 ENST00000409042 human ensembl 70_37 +1 putative missense c.292 p.D98H 0.046 NULL NULL - no_errors DAPL1 HGNC ENSG00000163331 40 24 37.50 31 0 0.00 DAPP1 27071 genome.wustl.edu 37 4 100761527 100761527 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 100761527 100761527 G C SNP DAPP1 ENST00000512369 human ensembl 70_37 +1 known missense c.306 p.L102F 0.999 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 27 18 40.00 62 0 0.00 DAPP1 27071 genome.wustl.edu 37 4 100774415 100774415 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 4 100774415 100774415 G A SNP DAPP1 ENST00000512369 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 NULL pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 52 41 44.09 36 0 0.00 DARC 2532 genome.wustl.edu 37 1 159175724 159175724 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 159175724 159175724 C A SNP DARC ENST00000368121 human ensembl 70_37 +1 known silent c.501 p.L167 0.077 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 36 4 10.00 38 0 0.00 DARS2 55157 genome.wustl.edu 37 1 173795921 173795921 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 173795921 173795921 G A SNP DARS2 ENST00000361951 human ensembl 70_37 +1 known missense c.224 p.R75Q 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 37 41 52.56 50 0 0.00 DARS2 55157 genome.wustl.edu 37 1 173808631 173808631 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 173808631 173808631 G A SNP DARS2 ENST00000361951 human ensembl 70_37 +1 known missense c.967 p.E323K 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 49 16 24.24 62 0 0.00 DAXX 1616 genome.wustl.edu 37 6 33286832 33286832 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33286832 33286832 G A SNP DAXX ENST00000266000 human ensembl 70_37 -1 known missense c.2105 p.S702F 0.196 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 28 13 31.71 43 0 0.00 DAXX 1616 genome.wustl.edu 37 6 33288313 33288313 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 33288313 33288313 C G SNP DAXX ENST00000266000 human ensembl 70_37 -1 known silent c.1095 p.R365 0.120 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 17 6 26.09 33 0 0.00 DAXX 1616 genome.wustl.edu 37 6 33289038 33289038 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33289038 33289038 C T SNP DAXX ENST00000266000 human ensembl 70_37 -1 known missense c.514 p.E172K 0.002 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 46 37 44.58 55 0 0.00 DAZAP1 26528 genome.wustl.edu 37 19 1430343 1430343 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 1430343 1430343 G A SNP DAZAP1 ENST00000233078 human ensembl 70_37 +1 known missense c.853 p.G285S 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 26 10 27.78 19 0 0.00 DAZL 1618 genome.wustl.edu 37 3 16633616 16633616 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 16633616 16633616 G C SNP DAZL ENST00000399444 human ensembl 70_37 -1 known missense c.775 p.L259V 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC ENSG00000092345 130 83 38.79 179 0 0.00 DAZL 1618 genome.wustl.edu 37 3 16635205 16635205 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 16635205 16635205 G C SNP DAZL ENST00000399444 human ensembl 70_37 -1 known nonsense c.692 p.S231* 0.967 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC ENSG00000092345 68 47 40.87 192 0 0.00 DBC1 0 genome.wustl.edu 37 9 121929662 121929662 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 121929662 121929662 C G SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.1986 p.L662 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 11 4 26.67 24 0 0.00 DBC1 0 genome.wustl.edu 37 9 121929686 121929686 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 121929686 121929686 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.1962 p.D654 0.920 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 19 11 36.67 25 0 0.00 DBC1 0 genome.wustl.edu 37 9 121976225 121976225 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 121976225 121976225 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.894 p.A298 0.221 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 48 16 25.00 46 0 0.00 DBC1 0 genome.wustl.edu 37 9 122011249 122011249 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 122011249 122011249 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known missense c.398 p.A133V 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 20 4 16.67 41 0 0.00 DBC1 0 genome.wustl.edu 37 9 122011392 122011392 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 9 122011392 122011392 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.255 p.I85 0.905 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 85 19 18.27 74 0 0.00 DBF4 10926 genome.wustl.edu 37 7 87537139 87537139 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87537139 87537139 C T SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known silent c.1686 p.D562 0.001 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 13 10 43.48 38 0 0.00 DBF4 10926 genome.wustl.edu 37 7 87537145 87537145 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 87537145 87537145 G C SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known missense c.1692 p.K564N 0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 28 23 45.10 34 0 0.00 DBF4 10926 genome.wustl.edu 37 7 87537187 87537187 + Silent SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 7 87537187 87537187 G C SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known silent c.1734 p.V578 0.899 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 39 18 31.58 27 0 0.00 DBF4B 80174 genome.wustl.edu 37 17 42786153 42786153 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42786153 42786153 G A SNP DBF4B ENST00000526915 human ensembl 70_37 +1 known rna NULL NULL 0.503 - - - no_errors DBF4B HGNC ENSG00000161692 12 6 33.33 19 0 0.00 DBF4B 80174 genome.wustl.edu 37 17 42807339 42807339 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42807339 42807339 G A SNP DBF4B ENST00000315005 human ensembl 70_37 +1 known missense c.292 p.E98K 0.998 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 30 19 38.78 47 0 0.00 DBH 1621 genome.wustl.edu 37 9 136501831 136501831 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 136501831 136501831 C T SNP DBH ENST00000393056 human ensembl 70_37 +1 known missense c.338 p.A113V 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 30 4 11.76 56 0 0.00 DBH 1621 genome.wustl.edu 37 9 136523568 136523568 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 136523568 136523568 G A SNP DBH ENST00000393056 human ensembl 70_37 +1 known silent c.1853 p.*618 0.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 41 10 19.61 37 0 0.00 DBH 1621 genome.wustl.edu 37 9 136523568 136523568 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 136523568 136523568 G A SNP DBH ENST00000393056 human ensembl 70_37 +1 known silent c.1853 p.*618 0.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 61 12 16.44 41 0 0.00 DBI 1622 genome.wustl.edu 37 2 120124915 120124915 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120124915 120124915 G A SNP DBI ENST00000542275 human ensembl 70_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors DBI HGNC ENSG00000155368 38 14 26.92 30 0 0.00 DBIL5P 100131454 genome.wustl.edu 37 17 656677 656677 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 656677 656677 G A SNP DBIL5P ENST00000536214 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors DBIL5P HGNC ENSG00000231784 44 13 22.81 49 0 0.00 DBN1 1627 genome.wustl.edu 37 5 176886203 176886203 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 176886203 176886203 G A SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.1028 p.S343F 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 48 22 31.43 36 0 0.00 DBN1 1627 genome.wustl.edu 37 5 176887655 176887655 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 176887655 176887655 G C SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.827 p.S276W 0.751 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 42 16 27.59 42 0 0.00 DBN1 1627 genome.wustl.edu 37 5 176894312 176894312 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 176894312 176894312 C G SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.505 p.D169H 0.742 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 43 11 20.37 93 0 0.00 DBNDD1 79007 genome.wustl.edu 37 16 90075276 90075276 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 90075276 90075276 C T SNP DBNDD1 ENST00000568838 human ensembl 70_37 -1 known missense c.595 p.E199K 1.000 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 38 10 20.83 53 0 0.00 DBNDD2 55861 genome.wustl.edu 37 20 44038718 44038718 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 44038718 44038718 G A SNP DBNDD2 ENST00000372720 human ensembl 70_37 +1 known missense c.718 p.A240T 1.000 NULL pfam_Dysbindin - no_errors DBNDD2 HGNC ENSG00000244274 23 4 14.81 19 0 0.00 DBNL 28988 genome.wustl.edu 37 7 44097863 44097863 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 44097863 44097863 G A SNP DBNL ENST00000468694 human ensembl 70_37 +1 known missense c.688 p.E230K 0.001 NULL pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 11 7 38.89 36 0 0.00 DBNL 28988 genome.wustl.edu 37 7 44100682 44100682 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44100682 44100682 G T SNP DBNL ENST00000497184 human ensembl 70_37 +1 known rna NULL NULL 0.424 - - - no_errors DBNL HGNC ENSG00000136279 12 6 33.33 21 0 0.00 DBR1 51163 genome.wustl.edu 37 3 137882330 137882330 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 137882330 137882330 C T SNP DBR1 ENST00000260803 human ensembl 70_37 -1 known missense c.802 p.E268K 1.000 pfam_DBR1_C pfam_DBR1_C,pfam_Metallo_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 53 34 39.08 27 0 0.00 DBT 1629 genome.wustl.edu 37 1 100696454 100696454 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 100696454 100696454 C G SNP DBT ENST00000370132 human ensembl 70_37 -1 known missense c.268 p.D90H 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 47 17 26.56 52 0 0.00 DCAF10 79269 genome.wustl.edu 37 9 37860308 37860308 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 37860308 37860308 G C SNP DCAF10 ENST00000461549 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF10 HGNC ENSG00000122741 4 7 63.64 20 0 0.00 DCAF10 79269 genome.wustl.edu 37 9 37863321 37863321 + RNA SNP T T A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 37863321 37863321 T A SNP DCAF10 ENST00000483167 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors DCAF10 HGNC ENSG00000122741 23 8 25.81 19 0 0.00 DCAF11 80344 genome.wustl.edu 37 14 24588935 24588935 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24588935 24588935 G C SNP DCAF11 ENST00000446197 human ensembl 70_37 +1 known missense c.922 p.D308H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 62 20 24.39 96 0 0.00 DCAF12L1 139170 genome.wustl.edu 37 X 125685755 125685755 + Silent SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 125685755 125685755 C A SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known silent c.837 p.A279 0.008 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 69 65 48.51 120 0 0.00 DCAF12L1 139170 genome.wustl.edu 37 X 125685980 125685980 + Missense_Mutation SNP A A T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 125685980 125685980 A T SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known missense c.612 p.S204R 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 156 56 26.42 204 0 0.00 DCAF12L1 139170 genome.wustl.edu 37 X 125686155 125686155 + Missense_Mutation SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 X 125686155 125686155 T C SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known missense c.437 p.D146G 0.001 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 133 25 15.82 111 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125298619 125298619 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 125298619 125298619 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.1289 p.A430V 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 34 19 35.85 81 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125298663 125298663 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 125298663 125298663 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known silent c.1245 p.D415 0.163 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 86 17 16.50 67 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125298775 125298775 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 125298775 125298775 C T SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.1133 p.R378H 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 60 43 41.75 66 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125299005 125299005 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 125299005 125299005 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known silent c.903 p.I301 0.885 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 47 31 39.74 75 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125299273 125299273 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 125299273 125299273 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.635 p.S212F 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 143 45 23.94 240 0 0.00 DCAF12L2 340578 genome.wustl.edu 37 X 125299852 125299852 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 125299852 125299852 C T SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.56 p.G19E 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 34 4 10.53 37 0 0.00 DCAF13 25879 genome.wustl.edu 37 8 104427430 104427430 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 104427430 104427430 C G SNP DCAF13 ENST00000297579 human ensembl 70_37 +1 known missense c.212 p.S71W 0.001 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 44 25 36.23 21 0 0.00 DCAF13 25879 genome.wustl.edu 37 8 104452417 104452417 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 104452417 104452417 C G SNP DCAF13 ENST00000297579 human ensembl 70_37 +1 known missense c.1460 p.S487C 0.952 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 29 27 48.21 32 0 0.00 DCAF16 54876 genome.wustl.edu 37 4 17805707 17805707 + Nonsense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 17805707 17805707 C A SNP DCAF16 ENST00000382247 human ensembl 70_37 -1 known nonsense c.58 p.E20* 0.960 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 25 34 57.63 80 0 0.00 DCAF16 54876 genome.wustl.edu 37 4 17805988 17805988 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 17805988 17805988 C T SNP DCAF16 ENST00000507768 human ensembl 70_37 -1 known rna NULL NULL 0.791 - - - no_errors DCAF16 HGNC ENSG00000163257 8 5 38.46 38 0 0.00 DCAF17 80067 genome.wustl.edu 37 2 172309709 172309709 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 172309709 172309709 G C SNP DCAF17 ENST00000375255 human ensembl 70_37 +1 known missense c.613 p.E205Q 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 36 18 33.33 44 0 0.00 DCAF4L1 285429 genome.wustl.edu 37 4 41983833 41983833 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 41983833 41983833 C T SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known silent c.24 p.L8 0.921 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 32 11 25.58 52 0 0.00 DCAF4L1 285429 genome.wustl.edu 37 4 41984210 41984210 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 41984210 41984210 C T SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known missense c.401 p.S134L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 25 31 55.36 37 0 0.00 DCAF4L1 285429 genome.wustl.edu 37 4 41984755 41984755 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 41984755 41984755 G A SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known missense c.946 p.A316T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 54 32 37.21 66 0 0.00 DCAF4L2 138009 genome.wustl.edu 37 8 88885044 88885044 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 88885044 88885044 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.1156 p.R386W 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 25 12 32.43 38 0 0.00 DCAF4L2 138009 genome.wustl.edu 37 8 88885075 88885075 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 88885075 88885075 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known silent c.1125 p.F375 0.414 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 41 11 21.15 51 0 0.00 DCAF4L2 138009 genome.wustl.edu 37 8 88885439 88885439 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 88885439 88885439 C T SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.761 p.R254H 0.995 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 27 7 20.59 38 0 0.00 DCAF4L2 138009 genome.wustl.edu 37 8 88885653 88885653 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 88885653 88885653 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.547 p.P183S 0.972 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 39 15 27.78 62 0 0.00 DCAF5 8816 genome.wustl.edu 37 14 69521200 69521200 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 69521200 69521200 C G SNP DCAF5 ENST00000341516 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 50 47 48.45 66 0 0.00 DCAF5 8816 genome.wustl.edu 37 14 69522025 69522025 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 69522025 69522025 C G SNP DCAF5 ENST00000341516 human ensembl 70_37 -1 known missense c.1378 p.E460Q 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 15 8 34.78 30 0 0.00 DCAF6 55827 genome.wustl.edu 37 1 167973897 167973897 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 167973897 167973897 C T SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1244 p.S415F 0.986 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 28 5 15.15 13 0 0.00 DCAF6 55827 genome.wustl.edu 37 1 167973911 167973911 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 167973911 167973911 C G SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1258 p.Q420E 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 23 9 28.12 42 0 0.00 DCAF6 55827 genome.wustl.edu 37 1 168007719 168007719 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 168007719 168007719 G A SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1720 p.D574N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 10 5 33.33 23 0 0.00 DCAF7 10238 genome.wustl.edu 37 17 61666384 61666384 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 61666384 61666384 C T SNP DCAF7 ENST00000310827 human ensembl 70_37 +1 known silent c.879 p.I293 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 6 13 68.42 24 0 0.00 DCAF7 10238 genome.wustl.edu 37 17 61666705 61666705 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61666705 61666705 C G SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 0.381 - - - no_errors DCAF7 HGNC ENSG00000136485 33 8 19.51 27 0 0.00 DCAF7 10238 genome.wustl.edu 37 17 61670999 61670999 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 61670999 61670999 G A SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors DCAF7 HGNC ENSG00000136485 30 20 40.00 23 0 0.00 DCAF7 10238 genome.wustl.edu 37 17 61671187 61671187 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61671187 61671187 T G SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DCAF7 HGNC ENSG00000136485 38 5 11.63 54 0 0.00 DCAF8 50717 genome.wustl.edu 37 1 160187440 160187440 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 160187440 160187440 G A SNP DCAF8 ENST00000555195 human ensembl 70_37 -1 known missense c.2198 p.S733F 1.000 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 35 8 18.60 41 0 0.00 DCAF8 50717 genome.wustl.edu 37 1 160188831 160188831 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160188831 160188831 G A SNP DCAF8 ENST00000476033 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors DCAF8 HGNC ENSG00000132716 13 10 43.48 34 0 0.00 DCAF8 50717 genome.wustl.edu 37 1 160208574 160208574 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160208574 160208574 G C SNP DCAF8 ENST00000466253 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DCAF8 HGNC ENSG00000132716 8 7 46.67 10 0 0.00 DCAF8L1 139425 genome.wustl.edu 37 X 27997787 27997787 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 27997787 27997787 C G SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known silent c.1665 p.L555 0.070 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 39 34 46.58 42 0 0.00 DCAF8L1 139425 genome.wustl.edu 37 X 27998107 27998107 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 27998107 27998107 G A SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known missense c.1345 p.R449W 0.933 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 56 7 11.11 86 0 0.00 DCAF8L1 139425 genome.wustl.edu 37 X 27998204 27998204 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 27998204 27998204 G A SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known silent c.1248 p.L416 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 62 16 20.25 95 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27765143 27765143 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 27765143 27765143 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.131 p.S44L 0.008 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 42 8 16.00 57 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27765223 27765223 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 27765223 27765223 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known nonsense c.211 p.R71* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 36 10 21.74 42 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27765662 27765662 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 27765662 27765662 G A SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.650 p.R217H 0.992 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 70 9 11.39 60 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27765682 27765682 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 27765682 27765682 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.670 p.L224F 0.904 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 62 16 20.51 77 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27766066 27766066 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 27766066 27766066 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.1054 p.R352W 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 50 17 25.37 36 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27766524 27766524 + Silent SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 27766524 27766524 C A SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known silent c.1512 p.I504 0.014 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 41 7 14.58 36 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27766674 27766674 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 27766674 27766674 G A SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known silent c.1662 p.K554 0.086 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 31 23 42.59 38 0 0.00 DCAF8L2 347442 genome.wustl.edu 37 X 27766685 27766685 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 27766685 27766685 A C SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.1673 p.K558T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 25 11 30.56 41 0 0.00 DCAKD 79877 genome.wustl.edu 37 17 43101914 43101914 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 43101914 43101914 C G SNP DCAKD ENST00000342350 human ensembl 70_37 -1 known missense c.583 p.E195Q 0.004 NULL pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC ENSG00000172992 61 22 26.51 99 0 0.00 DCBLD2 131566 genome.wustl.edu 37 3 98518644 98518644 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 98518644 98518644 G A SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.1942 p.H648Y 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 10 2 16.67 18 0 0.00 DCBLD2 131566 genome.wustl.edu 37 3 98520480 98520480 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 98520480 98520480 C T SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.1684 p.E562K 0.998 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 24 27 52.94 39 0 0.00 DCBLD2 131566 genome.wustl.edu 37 3 98539110 98539110 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 98539110 98539110 A G SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.853 p.F285L 1.000 superfamily_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 8 3 27.27 25 0 0.00 DCC 1630 genome.wustl.edu 37 18 49867236 49867236 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 49867236 49867236 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.79 p.L27F 1.000 pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 29 8 21.62 73 0 0.00 DCC 1630 genome.wustl.edu 37 18 50278549 50278549 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 50278549 50278549 A C SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.217 p.K73Q 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 70 17 19.54 96 0 0.00 DCC 1630 genome.wustl.edu 37 18 50683791 50683791 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 50683791 50683791 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known nonsense c.1327 p.R443* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 21 41 66.13 84 0 0.00 DCC 1630 genome.wustl.edu 37 18 50705389 50705389 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 50705389 50705389 G A SNP DCC ENST00000442544 human ensembl 70_37 +1 known silent c.1476 p.L492 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 42 7 14.29 76 0 0.00 DCC 1630 genome.wustl.edu 37 18 50731697 50731697 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 50731697 50731697 G C SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.1685 p.R562T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 46 22 32.35 75 0 0.00 DCC 1630 genome.wustl.edu 37 18 50832091 50832091 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 50832091 50832091 T G SNP DCC ENST00000442544 human ensembl 70_37 +1 known splice_site c.2053+2 e13+2 1.000 - - - no_errors DCC HGNC ENSG00000187323 5 6 54.55 26 0 0.00 DCC 1630 genome.wustl.edu 37 18 50866187 50866187 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 18 50866187 50866187 G A SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.2269 p.G757S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 77 15 16.30 90 0 0.00 DCC 1630 genome.wustl.edu 37 18 50918205 50918205 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 18 50918205 50918205 G T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.2636 p.R879L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 26 15 36.59 33 0 0.00 DCC 1630 genome.wustl.edu 37 18 50936959 50936959 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 50936959 50936959 C G SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.3073 p.R1025G 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 119 43 26.54 220 0 0.00 DCC 1630 genome.wustl.edu 37 18 50985767 50985767 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 50985767 50985767 C G SNP DCC ENST00000442544 human ensembl 70_37 +1 known silent c.3558 p.L1186 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 28 10 26.32 30 0 0.00 DCC 1630 genome.wustl.edu 37 18 51013194 51013194 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 18 51013194 51013194 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.3764 p.T1255M 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 22 37 62.71 53 0 0.00 DCC 1630 genome.wustl.edu 37 18 51056749 51056749 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51056749 51056749 C A SNP DCC ENST00000581580 human ensembl 70_37 +1 putative silent c.3186 p.I1062 0.000 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 45 29 39.19 110 0 0.00 DCDC2 51473 genome.wustl.edu 37 6 24289099 24289099 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 24289099 24289099 G A SNP DCDC2 ENST00000378454 human ensembl 70_37 -1 known missense c.740 p.S247F 1.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 21 18 46.15 41 0 0.00 DCDC2B 149069 genome.wustl.edu 37 1 32678163 32678163 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 32678163 32678163 C T SNP DCDC2B ENST00000409358 human ensembl 70_37 +1 known silent c.600 p.V200 0.498 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC ENSG00000222046 56 38 40.43 93 0 0.00 DCDC2B 149069 genome.wustl.edu 37 1 32681106 32681106 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 32681106 32681106 G C SNP DCDC2B ENST00000409358 human ensembl 70_37 +1 known missense c.916 p.D306H 0.994 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC ENSG00000222046 41 7 14.58 31 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 30915926 30915926 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 30915926 30915926 G A SNP DCDC5 ENST00000406071 human ensembl 70_37 -1 known nonsense c.976 p.R326* 0.998 NULL superfamily_Doublecortin_dom - no_errors DCDC5 HGNC ENSG00000170959 27 11 28.95 40 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 30937082 30937082 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 30937082 30937082 C T SNP DCDC5 ENST00000339794 human ensembl 70_37 -1 known missense c.866 p.R289H 0.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 51 26 33.77 76 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 31112999 31112999 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 31112999 31112999 G C SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative missense c.2178 p.I726M 0.994 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 40 17 29.82 52 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 31131824 31131824 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 31131824 31131824 C T SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative missense c.1570 p.D524N 0.000 NULL pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 27 9 25.00 42 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 31263120 31263120 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 31263120 31263120 C T SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative silent c.1098 p.L366 1.000 NULL pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 14 9 39.13 28 0 0.00 DCDC5 100506627 genome.wustl.edu 37 11 31329188 31329188 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 31329188 31329188 C T SNP DCDC5 ENST00000452803 human ensembl 70_37 -1 known silent c.432 p.L144 1.000 NULL superfamily_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC5 HGNC ENSG00000170959 56 7 11.11 46 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6643101 6643101 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6643101 6643101 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.9806 p.S3269* 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 22 10 31.25 35 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6643167 6643167 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6643167 6643167 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.9740 p.S3247L 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 49 24 32.88 42 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6644960 6644960 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 6644960 6644960 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.7947 p.L2649 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 16 25 60.98 31 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6645079 6645079 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6645079 6645079 T C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.7828 p.T2610A 0.907 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 23 20 46.51 34 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6649939 6649939 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 6649939 6649939 C G SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.5284 p.E1762Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 51 23 31.08 97 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6650693 6650693 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 6650693 6650693 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.5151 p.I1717 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 62 30 32.61 90 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6650903 6650903 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 6650903 6650903 C A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.5035 p.G1679W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 28 5 14.29 26 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6650967 6650967 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 6650967 6650967 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.4971 p.L1657 0.488 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 16 5 23.81 64 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6651105 6651105 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6651105 6651105 T C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.4833 p.Q1611 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 36 4 10.00 42 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6651131 6651131 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 11 6651131 6651131 C T SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.4807 p.V1603M 0.658 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 32 15 31.25 52 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6652990 6652990 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 6652990 6652990 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.3532 p.Q1178E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 29 13 30.95 53 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6653796 6653796 + Nonsense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 6653796 6653796 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.2947 p.R983* 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 34 9 20.93 41 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6661191 6661191 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6661191 6661191 C A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.1654 p.D552Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 40 20 33.33 82 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6661921 6661921 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6661921 6661921 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.924 p.D308 0.044 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 28 5 15.15 39 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6662202 6662202 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 6662202 6662202 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.643 p.R215* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 23 13 36.11 38 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6662559 6662559 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 6662559 6662559 C T SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.286 p.E96K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 37 11 22.92 64 0 0.00 DCHS1 8642 genome.wustl.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 6662746 6662748 CAG - DEL DCHS1 ENST00000299441 human ensembl 70_37 -1 known in_frame_del c.99_97 p.L33in_frame_del 1.000:1.000:1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 27 3 10.00 55 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155155736 155155736 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 155155736 155155736 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.8703 p.I2901 0.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 65 24 26.97 120 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155157160 155157160 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155157160 155157160 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.7279 p.Q2427E 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 15 7 31.82 13 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155157687 155157687 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 155157687 155157687 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.6752 p.S2251C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 93 73 43.98 151 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155161743 155161743 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 155161743 155161743 G T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.5940 p.V1980 0.681 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 35 5 12.50 30 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155161923 155161923 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 4 155161923 155161923 C G SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.5760 p.L1920F 0.966 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 43 24 34.78 69 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155180783 155180783 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 155180783 155180783 C T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.5338 p.E1780K 0.656 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 29 20 40.82 48 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155225868 155225868 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 155225868 155225868 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.4193 p.S1398F 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 25 7 21.88 35 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155242131 155242131 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 155242131 155242131 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.3055 p.H1019D 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 69 11 13.58 47 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155252850 155252850 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 155252850 155252850 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.2250 p.I750 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 9 3 25.00 18 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155254118 155254118 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 155254118 155254118 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.1745 p.S582F 0.011 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 29 6 17.14 37 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155254249 155254249 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 155254249 155254249 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.1614 p.L538 0.500 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 28 8 22.22 24 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155264710 155264710 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 155264710 155264710 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.889 p.H297Y 0.012 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 16 8 33.33 27 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155287390 155287390 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 155287390 155287390 C T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.666 p.S222 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 60 9 13.04 95 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155305547 155305547 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155305547 155305547 C G SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.207 p.E69D 0.001 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 36 19 34.55 34 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155410577 155410577 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155410577 155410577 G A SNP DCHS2 ENST00000339452 human ensembl 70_37 -1 known missense c.1931 p.S644F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 20 12 37.50 20 0 0.00 DCHS2 54798 genome.wustl.edu 37 4 155411341 155411341 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 155411341 155411341 G A SNP DCHS2 ENST00000339452 human ensembl 70_37 -1 known silent c.1167 p.G389 0.013 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 16 11 36.67 19 0 0.00 DCK 1633 genome.wustl.edu 37 4 71888099 71888099 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 71888099 71888099 C T SNP DCK ENST00000286648 human ensembl 70_37 +1 known nonsense c.223 p.Q75* 1.000 NULL pfam_Deoxynucleoside_kinase - no_errors DCK HGNC ENSG00000156136 26 7 21.21 51 0 0.00 DCLK1 9201 genome.wustl.edu 37 13 36396959 36396959 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 13 36396959 36396959 G A SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known silent c.1461 p.D487 0.961 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 73 55 42.31 135 0 0.00 DCLK1 9201 genome.wustl.edu 37 13 36413287 36413287 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36413287 36413287 C T SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known silent c.1062 p.T354 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 43 8 15.69 69 0 0.00 DCLK1 9201 genome.wustl.edu 37 13 36700236 36700236 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 36700236 36700236 G T SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known missense c.39 p.D13E 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 32 4 11.11 49 0 0.00 DCLK2 166614 genome.wustl.edu 37 4 151169505 151169505 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 151169505 151169505 G A SNP DCLK2 ENST00000302176 human ensembl 70_37 +1 known missense c.1975 p.A659T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC ENSG00000170390 23 11 32.35 40 0 0.00 DCLK2 166614 genome.wustl.edu 37 4 151174642 151174642 + Nonstop_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 151174642 151174642 G C SNP DCLK2 ENST00000411937 human ensembl 70_37 +1 known nonstop c.2087 p.*696S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC ENSG00000170390 28 10 26.32 38 0 0.00 DCLK3 85443 genome.wustl.edu 37 3 36756869 36756869 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 36756869 36756869 C G SNP DCLK3 ENST00000416516 human ensembl 70_37 -1 known missense c.1897 p.E633Q 0.987 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK3 HGNC ENSG00000163673 29 10 25.64 92 0 0.00 DCLK3 85443 genome.wustl.edu 37 3 36756965 36756965 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 36756965 36756965 G A SNP DCLK3 ENST00000416516 human ensembl 70_37 -1 known missense c.1801 p.R601C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK3 HGNC ENSG00000163673 25 15 37.50 52 0 0.00 DCLRE1A 9937 genome.wustl.edu 37 10 115602142 115602142 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 115602142 115602142 G A SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known silent c.2625 p.V875 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 182 68 27.20 244 0 0.00 DCLRE1A 9937 genome.wustl.edu 37 10 115602210 115602210 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 115602210 115602210 C T SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.2557 p.E853K 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 212 56 20.90 300 0 0.00 DCLRE1A 9937 genome.wustl.edu 37 10 115610108 115610108 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 115610108 115610108 G C SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.756 p.I252M 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 14 5 26.32 14 0 0.00 DCLRE1A 9937 genome.wustl.edu 37 10 115610113 115610113 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115610113 115610113 G A SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.751 p.H251Y 0.049 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 15 6 28.57 48 0 0.00 DCLRE1B 64858 genome.wustl.edu 37 1 114454370 114454370 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 114454370 114454370 G C SNP DCLRE1B ENST00000369563 human ensembl 70_37 +1 known missense c.1156 p.E386Q 0.017 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 11 7 38.89 18 0 0.00 DCLRE1B 64858 genome.wustl.edu 37 1 114456243 114456243 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 114456243 114456243 C T SNP DCLRE1B ENST00000466480 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors DCLRE1B HGNC ENSG00000118655 36 6 14.29 38 0 0.00 DCLRE1C 64421 genome.wustl.edu 37 10 14961745 14961745 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 14961745 14961745 C T SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known missense c.1148 p.R383Q 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 72 24 25.00 110 0 0.00 DCLRE1C 64421 genome.wustl.edu 37 10 14976735 14976735 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 14976735 14976735 G A SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known silent c.504 p.F168 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 194 168 46.28 277 0 0.00 DCLRE1C 64421 genome.wustl.edu 37 10 14978589 14978589 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 14978589 14978589 C T SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known missense c.310 p.E104K 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 34 15 30.61 57 0 0.00 DCLRE1C 64421 genome.wustl.edu 37 10 14995991 14995991 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 14995991 14995991 G A SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 0.993 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 45 10 17.86 41 0 0.00 DCP1A 55802 genome.wustl.edu 37 3 53321417 53321417 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 53321417 53321417 C T SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DCP1A HGNC ENSG00000162290 27 12 30.77 34 0 0.00 DCP1A 55802 genome.wustl.edu 37 3 53321594 53321594 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 53321594 53321594 C T SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors DCP1A HGNC ENSG00000162290 60 7 10.45 77 0 0.00 DCP1A 55802 genome.wustl.edu 37 3 53326674 53326674 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 53326674 53326674 G C SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.226 - - - no_errors DCP1A HGNC ENSG00000162290 30 9 23.08 59 0 0.00 DCP1A 55802 genome.wustl.edu 37 3 53346369 53346369 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 53346369 53346369 G A SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.811 - - - no_errors DCP1A HGNC ENSG00000162290 20 7 25.93 25 0 0.00 DCP1B 196513 genome.wustl.edu 37 12 2062277 2062277 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 2062277 2062277 C T SNP DCP1B ENST00000280665 human ensembl 70_37 -1 known missense c.829 p.E277K 1.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 13 11 45.83 16 0 0.00 DCP1B 196513 genome.wustl.edu 37 12 2062323 2062324 + In_Frame_Ins INS - - TGC TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 2062323 2062324 - TGC INS DCP1B ENST00000280665 human ensembl 70_37 -1 known in_frame_ins c.783_782 p.262in_frame_insQ 0.742:0.836 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 46 6 11.54 50 0 0.00 DCP2 167227 genome.wustl.edu 37 5 112320221 112320221 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 112320221 112320221 C T SNP DCP2 ENST00000504961 human ensembl 70_37 +1 putative rna NULL NULL 0.016 - - - no_errors DCP2 HGNC ENSG00000172795 18 14 43.75 21 0 0.00 DCP2 167227 genome.wustl.edu 37 5 112327822 112327822 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 112327822 112327822 C T SNP DCP2 ENST00000389063 human ensembl 70_37 +1 known silent c.210 p.F70 1.000 pfam_mRNA_decapping_BoxA pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 42 33 44.00 52 0 0.00 DCP2 167227 genome.wustl.edu 37 5 112346477 112346477 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 112346477 112346477 C T SNP DCP2 ENST00000389063 human ensembl 70_37 +1 known missense c.1072 p.R358W 1.000 NULL pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 24 18 42.86 59 0 0.00 DCST1 149095 genome.wustl.edu 37 1 155007000 155007000 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155007000 155007000 C G SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.151 p.L51V 1.000 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 67 21 23.86 72 0 0.00 DCST1 149095 genome.wustl.edu 37 1 155014220 155014220 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 155014220 155014220 G T SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.779 p.R260L 0.065 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 94 28 22.95 68 0 0.00 DCST1 149095 genome.wustl.edu 37 1 155015288 155015288 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 155015288 155015288 A G SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.970 p.I324V 0.016 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 18 27 60.00 35 0 0.00 DCST1 149095 genome.wustl.edu 37 1 155019788 155019788 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155019788 155019788 C T SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.1612 p.P538S 1.000 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 26 3 10.34 50 0 0.00 DCST1 149095 genome.wustl.edu 37 1 155020577 155020577 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 155020577 155020577 G A SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known silent c.1800 p.K600 0.994 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 59 20 25.32 60 0 0.00 DCST2 127579 genome.wustl.edu 37 1 154996951 154996951 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154996951 154996951 C T SNP DCST2 ENST00000368424 human ensembl 70_37 -1 known missense c.1739 p.S580N 0.001 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 9 8 47.06 18 0 0.00 DCST2 127579 genome.wustl.edu 37 1 155005216 155005216 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155005216 155005216 G A SNP DCST2 ENST00000368424 human ensembl 70_37 -1 known silent c.468 p.A156 0.474 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 60 14 18.92 41 0 0.00 DCT 1638 genome.wustl.edu 37 13 95095789 95095789 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 95095789 95095789 G A SNP DCT ENST00000446125 human ensembl 70_37 -1 known missense c.1381 p.R461W 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 33 17 34.00 49 0 0.00 DCT 1638 genome.wustl.edu 37 13 95095858 95095858 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 95095858 95095858 C T SNP DCT ENST00000446125 human ensembl 70_37 -1 known missense c.1312 p.E438K 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 27 18 40.00 49 0 0.00 DCTD 1635 genome.wustl.edu 37 4 183814220 183814220 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 183814220 183814220 G A SNP DCTD ENST00000357067 human ensembl 70_37 -1 known missense c.455 p.A152V 0.931 superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC ENSG00000129187 39 13 25.00 34 0 0.00 DCTN1 1639 genome.wustl.edu 37 2 74590169 74590169 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 74590169 74590169 G C SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.3481 p.Q1161E 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 10 10 50.00 18 0 0.00 DCTN1 1639 genome.wustl.edu 37 2 74594182 74594182 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 74594182 74594182 G A SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.2306 p.A769V 1.000 pfam_Dynactin pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 31 5 13.89 30 0 0.00 DCTN1 1639 genome.wustl.edu 37 2 74598150 74598150 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 74598150 74598150 C G SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.799 p.E267Q 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 455 144 24.00 598 0 0.00 DCTN1 1639 genome.wustl.edu 37 2 74600065 74600065 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 74600065 74600065 C T SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.443 p.R148Q 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 33 6 15.38 30 0 0.00 DCTN1 1639 genome.wustl.edu 37 2 74604805 74604805 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 74604805 74604805 C T SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.328 p.D110N 1.000 superfamily_CAP-Gly_domain pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 16 9 36.00 49 0 0.00 DCTN5 84516 genome.wustl.edu 37 16 23678902 23678902 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 23678902 23678902 C T SNP DCTN5 ENST00000563614 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DCTN5 HGNC ENSG00000166847 22 13 37.14 32 0 0.00 DCTN6 10671 genome.wustl.edu 37 8 30038070 30038070 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30038070 30038070 C T SNP DCTN6 ENST00000221114 human ensembl 70_37 +1 known missense c.398 p.T133I 0.998 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 27 10 27.03 87 0 0.00 DCUN1D3 123879 genome.wustl.edu 37 16 20871284 20871284 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 20871284 20871284 C T SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known missense c.839 p.R280Q 1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 11 6 35.29 34 0 0.00 DCUN1D3 123879 genome.wustl.edu 37 16 20871455 20871455 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 20871455 20871455 T C SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known missense c.668 p.Q223R 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 26 5 16.13 32 0 0.00 DCUN1D3 123879 genome.wustl.edu 37 16 20873536 20873536 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 20873536 20873536 C A SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known nonsense c.325 p.E109* 1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 25 6 19.35 43 0 0.00 DCUN1D4 23142 genome.wustl.edu 37 4 52709416 52709416 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 52709416 52709416 C G SNP DCUN1D4 ENST00000334635 human ensembl 70_37 +1 known missense c.8 p.S3W 1.000 NULL pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 7 2 22.22 9 0 0.00 DCUN1D5 84259 genome.wustl.edu 37 11 102954050 102954050 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 102954050 102954050 C T SNP DCUN1D5 ENST00000260247 human ensembl 70_37 -1 known missense c.184 p.D62N 1.000 NULL pfam_PONY_dom - no_errors DCUN1D5 HGNC ENSG00000137692 15 4 21.05 51 0 0.00 DCX 1641 genome.wustl.edu 37 X 110574146 110574146 + Splice_Site SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 110574146 110574146 C T SNP DCX ENST00000338081 human ensembl 70_37 -1 known splice_site c.1174+1 e5+1 1.000 - - - no_errors DCX HGNC ENSG00000077279 132 16 10.81 118 0 0.00 DCX 1641 genome.wustl.edu 37 X 110653588 110653588 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 110653588 110653588 C G SNP DCX ENST00000338081 human ensembl 70_37 -1 known missense c.282 p.K94N 0.995 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 12 8 40.00 37 0 0.00 DDB1 1642 genome.wustl.edu 37 11 61070628 61070628 + Splice_Site SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 61070628 61070628 C T SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known splice_site c.2833-1 e23-1 1.000 - - - no_errors DDB1 HGNC ENSG00000167986 42 5 10.64 38 0 0.00 DDB1 1642 genome.wustl.edu 37 11 61084025 61084025 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 61084025 61084025 G A SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known missense c.1240 p.R414W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 82 60 42.25 146 0 0.00 DDB1 1642 genome.wustl.edu 37 11 61096837 61096837 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61096837 61096837 G A SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known nonsense c.547 p.Q183* 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 14 5 26.32 30 0 0.00 DDB2 1643 genome.wustl.edu 37 11 47256412 47256412 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 47256412 47256412 T G SNP DDB2 ENST00000256996 human ensembl 70_37 +1 known missense c.807 p.I269M 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 13 5 27.78 30 0 0.00 DDB2 1643 genome.wustl.edu 37 11 47256436 47256436 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47256436 47256436 G T SNP DDB2 ENST00000256996 human ensembl 70_37 +1 known silent c.831 p.G277 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 24 11 31.43 32 0 0.00 DDC 1644 genome.wustl.edu 37 7 50596916 50596916 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 50596916 50596916 G A SNP DDC ENST00000357936 human ensembl 70_37 -1 known missense c.560 p.S187L 0.019 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 24 11 31.43 49 0 0.00 DDC 1644 genome.wustl.edu 37 7 50605581 50605581 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 50605581 50605581 C A SNP DDC ENST00000357936 human ensembl 70_37 -1 known nonsense c.412 p.G138* 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 30 5 14.29 25 0 0.00 DDHD1 80821 genome.wustl.edu 37 14 53522414 53522414 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 53522414 53522414 C T SNP DDHD1 ENST00000323669 human ensembl 70_37 -1 known missense c.2209 p.E737K 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 130 43 24.86 102 0 0.00 DDHD1 80821 genome.wustl.edu 37 14 53558534 53558534 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 53558534 53558534 C G SNP DDHD1 ENST00000323669 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 71 10 12.35 108 0 0.00 DDHD2 23259 genome.wustl.edu 37 8 38090703 38090703 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 38090703 38090703 C T SNP DDHD2 ENST00000397166 human ensembl 70_37 +1 known missense c.191 p.S64L 1.000 pfam_WWE-dom,pfscan_WWE-dom pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 24 5 17.24 22 0 0.00 DDHD2 23259 genome.wustl.edu 37 8 38099759 38099759 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 38099759 38099759 C G SNP DDHD2 ENST00000528888 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors DDHD2 HGNC ENSG00000085788 36 23 38.98 42 0 0.00 DDHD2 23259 genome.wustl.edu 37 8 38111109 38111109 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 38111109 38111109 G C SNP DDHD2 ENST00000397166 human ensembl 70_37 +1 known missense c.1927 p.E643Q 0.986 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 34 31 47.69 107 0 0.00 DDI1 414301 genome.wustl.edu 37 11 103908011 103908011 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 103908011 103908011 C T SNP DDI1 ENST00000302259 human ensembl 70_37 +1 known missense c.461 p.P154L 0.993 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 21 7 25.00 15 0 0.00 DDI1 414301 genome.wustl.edu 37 11 103908368 103908368 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 103908368 103908368 C T SNP DDI1 ENST00000302259 human ensembl 70_37 +1 known missense c.818 p.A273V 0.999 pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 126 16 11.27 143 0 0.00 DDI2 84301 genome.wustl.edu 37 1 15959933 15959933 + Splice_Site SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 15959933 15959933 G T SNP DDI2 ENST00000480945 human ensembl 70_37 +1 known splice_site c.506-1 e4-1 1.000 - - - no_errors DDI2 HGNC ENSG00000197312 13 3 18.75 23 0 0.00 DDI2 84301 genome.wustl.edu 37 1 15978270 15978270 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 15978270 15978270 G A SNP DDI2 ENST00000480945 human ensembl 70_37 +1 known missense c.1063 p.E355K 1.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 43 11 20.37 74 0 0.00 DDI2 84301 genome.wustl.edu 37 1 15978347 15978347 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 15978347 15978347 C T SNP DDI2 ENST00000480945 human ensembl 70_37 +1 known silent c.1140 p.D380 1.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 48 13 21.31 42 0 0.00 DDIT3 1649 genome.wustl.edu 37 12 57910641 57910641 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 57910641 57910641 G A SNP DDIT3 ENST00000551116 human ensembl 70_37 -1 known missense c.530 p.A177V 0.043 smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC ENSG00000175197 34 16 32.00 75 0 0.00 DDIT4 54541 genome.wustl.edu 37 10 74033756 74033756 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74033756 74033756 C T SNP DDIT4 ENST00000473155 human ensembl 70_37 +1 known rna NULL NULL 0.666 - - - no_errors DDIT4 HGNC ENSG00000168209 3 4 57.14 9 0 0.00 DDIT4 54541 genome.wustl.edu 37 10 74034053 74034053 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 74034053 74034053 G C SNP DDIT4 ENST00000307365 human ensembl 70_37 +1 known missense c.79 p.D27H 0.982 NULL pfam_RTP801-like - no_errors DDIT4 HGNC ENSG00000168209 129 30 18.87 193 0 0.00 DDIT4 54541 genome.wustl.edu 37 10 74034832 74034832 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74034832 74034832 C T SNP DDIT4 ENST00000307365 human ensembl 70_37 +1 known silent c.585 p.S195 0.001 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4 HGNC ENSG00000168209 26 16 38.10 46 0 0.00 DDIT4L 115265 genome.wustl.edu 37 4 101108882 101108882 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 101108882 101108882 C T SNP DDIT4L ENST00000273990 human ensembl 70_37 -1 known silent c.534 p.K178 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 10 9 47.37 36 0 0.00 DDIT4L 115265 genome.wustl.edu 37 4 101109298 101109298 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 4 101109298 101109298 G A SNP DDIT4L ENST00000273990 human ensembl 70_37 -1 known missense c.118 p.P40S 1.000 NULL pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 5 8 61.54 9 0 0.00 DDO 8528 genome.wustl.edu 37 6 110714274 110714274 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 110714274 110714274 G A SNP DDO ENST00000368924 human ensembl 70_37 -1 known silent c.814 p.L272 0.825 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 34 7 17.07 20 0 0.00 DDO 8528 genome.wustl.edu 37 6 110714285 110714285 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 110714285 110714285 C A SNP DDO ENST00000368924 human ensembl 70_37 -1 known missense c.803 p.G268V 0.923 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 17 8 32.00 38 0 0.00 DDOST 1650 genome.wustl.edu 37 1 20987829 20987829 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 20987829 20987829 G A SNP DDOST ENST00000375048 human ensembl 70_37 -1 known silent c.66 p.T22 0.000 NULL pfam_OligosaccharylTrfase_su_Wbp1 - no_errors DDOST HGNC ENSG00000244038 22 10 31.25 24 0 0.00 DDR1 780 genome.wustl.edu 37 6 30866975 30866975 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30866975 30866975 G A SNP DDR1 ENST00000376575 human ensembl 70_37 +1 known missense c.2662 p.E888K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 82 32 28.07 53 0 0.00 DDR1 780 genome.wustl.edu 37 6 30867038 30867038 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30867038 30867038 C T SNP DDR1 ENST00000376575 human ensembl 70_37 +1 known missense c.2725 p.R909W 0.991 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 39 7 15.22 48 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162725511 162725511 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 162725511 162725511 C A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.623 p.S208Y 0.964 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 42 19 31.15 48 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162740113 162740113 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 162740113 162740113 G A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.1315 p.D439N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 43 17 28.33 69 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162745581 162745581 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 162745581 162745581 C A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.1996 p.L666I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 39 7 15.22 33 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162746018 162746018 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 162746018 162746018 G A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.2141 p.R714Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 32 18 36.00 49 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162748502 162748502 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 162748502 162748502 C T SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known nonsense c.2416 p.R806* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 70 46 39.66 108 0 0.00 DDR2 4921 genome.wustl.edu 37 1 162749934 162749934 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 162749934 162749934 C T SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known silent c.2466 p.D822 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 34 14 29.17 49 0 0.00 DDRGK1 65992 genome.wustl.edu 37 20 3175951 3175951 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 20 3175951 3175951 C T SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known missense c.559 p.E187K 1.000 pfam_DDRGK_dom-contain pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 78 19 19.19 142 0 0.00 DDRGK1 65992 genome.wustl.edu 37 20 3183919 3183919 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3183919 3183919 G C SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known missense c.235 p.R79G 1.000 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 84 21 20.00 36 0 0.00 DDRGK1 65992 genome.wustl.edu 37 20 3183980 3183980 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3183980 3183980 C G SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known silent c.174 p.P58 0.299 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 84 12 12.50 39 0 0.00 DDRGK1 65992 genome.wustl.edu 37 20 3185217 3185217 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 3185217 3185217 G C SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known silent c.57 p.L19 0.630 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 12 10 45.45 21 0 0.00 DDX1 1653 genome.wustl.edu 37 2 15743960 15743960 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 15743960 15743960 C T SNP DDX1 ENST00000233084 human ensembl 70_37 +1 known silent c.498 p.G166 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 20 3 13.04 42 0 0.00 DDX1 1653 genome.wustl.edu 37 2 15769775 15769775 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 15769775 15769775 G A SNP DDX1 ENST00000233084 human ensembl 70_37 +1 known missense c.1925 p.R642K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 17 9 34.62 39 0 0.00 DDX10 1662 genome.wustl.edu 37 11 108811173 108811173 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 108811173 108811173 C A SNP DDX10 ENST00000524979 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors DDX10 HGNC ENSG00000178105 20 10 33.33 89 0 0.00 DDX11 1663 genome.wustl.edu 37 12 31237918 31237918 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 31237918 31237918 G A SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known missense c.496 p.E166K 0.982 smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 47 12 20.34 74 0 0.00 DDX11 1663 genome.wustl.edu 37 12 31237978 31237978 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 31237978 31237978 C T SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known missense c.556 p.R186W 0.002 smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 33 6 15.38 29 0 0.00 DDX11 1663 genome.wustl.edu 37 12 31242861 31242861 + Silent SNP A A C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 31242861 31242861 A C SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known silent c.922 p.R308 0.001 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 44 5 10.20 40 0 0.00 DDX11 1663 genome.wustl.edu 37 12 31244671 31244671 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 31244671 31244671 C T SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known nonsense c.1108 p.Q370* 1.000 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 26 14 35.00 44 0 0.00 DDX11L9 100288486 genome.wustl.edu 37 15 102516816 102516816 + RNA SNP G G T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 15 102516816 102516816 G T SNP DDX11L9 ENST00000559159 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DDX11L9 HGNC ENSG00000248472 12 3 20.00 27 0 0.00 DDX17 10521 genome.wustl.edu 37 22 38882271 38882271 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38882271 38882271 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known missense c.1865 p.G622E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 24 6 20.00 27 0 0.00 DDX17 10521 genome.wustl.edu 37 22 38882311 38882311 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38882311 38882311 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known missense c.1825 p.E609K 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 23 9 28.12 22 0 0.00 DDX17 10521 genome.wustl.edu 37 22 38895463 38895463 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 38895463 38895463 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known silent c.480 p.V160 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 35 27 43.55 77 0 0.00 DDX18 8886 genome.wustl.edu 37 2 118586868 118586868 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 118586868 118586868 G C SNP DDX18 ENST00000263239 human ensembl 70_37 +1 known missense c.1696 p.E566Q 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 15 9 37.50 35 0 0.00 DDX19A 55308 genome.wustl.edu 37 16 70390092 70390092 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 70390092 70390092 C A SNP DDX19A ENST00000302243 human ensembl 70_37 +1 known missense c.235 p.L79M 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 22 3 12.00 35 0 0.00 DDX19A 55308 genome.wustl.edu 37 16 70405280 70405280 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70405280 70405280 G C SNP DDX19A ENST00000302243 human ensembl 70_37 +1 known missense c.1189 p.D397H 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 23 12 34.29 70 0 0.00 DDX19B 11269 genome.wustl.edu 37 16 70363314 70363314 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 70363314 70363314 G A SNP DDX19B ENST00000288071 human ensembl 70_37 +1 known missense c.727 p.E243K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 40 17 29.82 79 0 0.00 DDX20 11218 genome.wustl.edu 37 1 112303170 112303170 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 112303170 112303170 G C SNP DDX20 ENST00000369702 human ensembl 70_37 +1 known missense c.640 p.D214H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 17 12 41.38 42 0 0.00 DDX20 11218 genome.wustl.edu 37 1 112303677 112303677 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 112303677 112303677 C T SNP DDX20 ENST00000369702 human ensembl 70_37 +1 known nonsense c.892 p.Q298* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 28 13 31.71 48 0 0.00 DDX20 11218 genome.wustl.edu 37 1 112305496 112305496 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 112305496 112305496 G A SNP DDX20 ENST00000475700 human ensembl 70_37 +1 putative missense c.3 p.M1I 0.000 NULL NULL - no_errors DDX20 HGNC ENSG00000064703 27 10 27.03 37 0 0.00 DDX21 9188 genome.wustl.edu 37 10 70719876 70719876 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 70719876 70719876 G A SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known silent c.402 p.K134 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 35 31 46.27 67 0 0.00 DDX21 9188 genome.wustl.edu 37 10 70738628 70738628 + Missense_Mutation SNP A A G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 70738628 70738628 A G SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known missense c.1933 p.I645V 0.173 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 26 14 35.00 61 0 0.00 DDX21 9188 genome.wustl.edu 37 10 70738685 70738685 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70738685 70738685 G C SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known missense c.1990 p.E664Q 0.992 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 27 37 57.81 50 0 0.00 DDX23 9416 genome.wustl.edu 37 12 49224420 49224420 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49224420 49224420 G A SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known silent c.2295 p.I765 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 57 16 21.92 60 0 0.00 DDX23 9416 genome.wustl.edu 37 12 49229908 49229908 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 49229908 49229908 C T SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.1378 p.D460N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 25 20 43.48 40 0 0.00 DDX23 9416 genome.wustl.edu 37 12 49230515 49230515 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 49230515 49230515 G A SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.1073 p.S358F 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 264 110 29.41 356 0 0.00 DDX23 9416 genome.wustl.edu 37 12 49233831 49233831 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49233831 49233831 C T SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.379 p.D127N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 49 11 18.33 51 0 0.00 DDX25 29118 genome.wustl.edu 37 11 125788628 125788628 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 125788628 125788628 C T SNP DDX25 ENST00000263576 human ensembl 70_37 +1 known nonsense c.1144 p.Q382* 0.999 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX25 HGNC ENSG00000109832 88 31 26.05 170 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134681106 134681106 + Silent SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 134681106 134681106 T C SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known silent c.658 p.L220 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 105 58 35.58 81 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134706650 134706650 + RNA SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 134706650 134706650 G T SNP DDX26B ENST00000493637 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DDX26B HGNC ENSG00000165359 23 6 20.69 24 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134711238 134711238 + Missense_Mutation SNP A A T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 134711238 134711238 A T SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.1894 p.R632W 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 98 15 13.27 95 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134711302 134711302 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 134711302 134711302 C G SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.1958 p.S653W 0.995 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 57 29 33.72 54 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134713952 134713952 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 134713952 134713952 G C SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.2248 p.D750H 0.818 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 16 12 42.86 27 0 0.00 DDX26B 203522 genome.wustl.edu 37 X 134716150 134716150 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 134716150 134716150 C T SNP DDX26B ENST00000481908 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DDX26B HGNC ENSG00000165359 27 12 30.77 40 0 0.00 DDX27 55661 genome.wustl.edu 37 20 47839534 47839534 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 47839534 47839534 G A SNP DDX27 ENST00000371764 human ensembl 70_37 +1 known missense c.374 p.R125Q 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 111 33 22.92 32 0 0.00 DDX27 55661 genome.wustl.edu 37 20 47841461 47841461 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 47841461 47841461 C T SNP DDX27 ENST00000462328 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors DDX27 HGNC ENSG00000124228 73 21 22.34 31 0 0.00 DDX27 55661 genome.wustl.edu 37 20 47850216 47850216 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 47850216 47850216 C T SNP DDX27 ENST00000371764 human ensembl 70_37 +1 known missense c.1336 p.R446C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 35 36 50.70 41 0 0.00 DDX27 55661 genome.wustl.edu 37 20 47860346 47860346 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 47860346 47860346 C T SNP DDX27 ENST00000471144 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DDX27 HGNC ENSG00000124228 29 80 73.39 57 0 0.00 DDX28 55794 genome.wustl.edu 37 16 68055763 68055763 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 68055763 68055763 C T SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known missense c.1343 p.R448Q 0.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 8 6 42.86 35 0 0.00 DDX28 55794 genome.wustl.edu 37 16 68057070 68057070 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 68057070 68057070 G C SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known silent c.36 p.L12 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 25 7 21.88 32 0 0.00 DDX28 55794 genome.wustl.edu 37 16 68057079 68057079 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 68057079 68057079 G C SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known silent c.27 p.L9 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 3 20 86.96 37 0 0.00 DDX31 64794 genome.wustl.edu 37 9 135505740 135505740 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 135505740 135505740 G A SNP DDX31 ENST00000372153 human ensembl 70_37 -1 known missense c.1832 p.P611L 0.762 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 33 19 36.54 57 0 0.00 DDX39A 10212 genome.wustl.edu 37 19 14520578 14520578 + Silent SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 14520578 14520578 G C SNP DDX39A ENST00000242776 human ensembl 70_37 -1 known silent c.840 p.L280 0.420 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 16 2 11.11 22 0 0.00 DDX39A 10212 genome.wustl.edu 37 19 14520640 14520640 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 14520640 14520640 C T SNP DDX39A ENST00000242776 human ensembl 70_37 -1 known missense c.778 p.G260S 0.999 smart_Helicase_ATP-bd,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 15 16 51.61 34 0 0.00 DDX39A 10212 genome.wustl.edu 37 19 14520723 14520723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14520723 14520723 C T SNP DDX39A ENST00000454233 human ensembl 70_37 -1 known silent c.803 p.*268 0.663 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 29 9 23.68 41 0 0.00 DDX39B 7919 genome.wustl.edu 37 6 31506809 31506809 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 31506809 31506809 G C SNP DDX39B ENST00000449074 human ensembl 70_37 -1 known missense c.367 p.L123V 0.003 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 15 9 37.50 18 0 0.00 DDX3X 1654 genome.wustl.edu 37 X 41202541 41202541 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 41202541 41202541 G T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.616 p.V206L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 75 20 21.05 76 0 0.00 DDX3X 1654 genome.wustl.edu 37 X 41204678 41204678 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 41204678 41204678 G C SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1192 p.D398H 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 77 19 19.79 68 0 0.00 DDX3X 1654 genome.wustl.edu 37 X 41205783 41205783 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 41205783 41205783 C T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1523 p.S508L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 75 41 35.34 60 0 0.00 DDX3X 1654 genome.wustl.edu 37 X 41205855 41205855 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 41205855 41205855 C T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1595 p.T532M 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 62 45 42.06 87 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176938929 176938929 + Splice_Site SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 176938929 176938929 C A SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known splice_site c.1733-1 e17-1 1.000 - - - no_errors DDX41 HGNC ENSG00000183258 33 4 10.81 56 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176939169 176939169 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 176939169 176939169 C T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.1660 p.E554K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 14 9 39.13 26 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176939844 176939844 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 176939844 176939844 C T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.1336 p.D446N 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 33 9 21.43 31 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176942215 176942215 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176942215 176942215 G T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.616 p.P206T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 41 5 10.87 33 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176942307 176942307 + Nonstop_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176942307 176942307 C G SNP DDX41 ENST00000509576 human ensembl 70_37 -1 known nonstop c.605 p.*202S 0.000 NULL NULL - no_errors DDX41 HGNC ENSG00000183258 33 8 19.51 42 0 0.00 DDX41 51428 genome.wustl.edu 37 5 176943443 176943443 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 176943443 176943443 C G SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.144 p.Q48H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 41 6 12.77 31 0 0.00 DDX42 11325 genome.wustl.edu 37 17 61888467 61888467 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 61888467 61888467 G C SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known missense c.1332 p.K444N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 46 24 34.29 86 0 0.00 DDX42 11325 genome.wustl.edu 37 17 61894305 61894305 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 61894305 61894305 G A SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known silent c.2091 p.T697 0.885 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 29 8 21.62 49 0 0.00 DDX42 11325 genome.wustl.edu 37 17 61895487 61895487 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 61895487 61895487 G A SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known missense c.2546 p.S849N 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 11 5 31.25 19 0 0.00 DDX43 55510 genome.wustl.edu 37 6 74117275 74117275 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 74117275 74117275 C A SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.974 p.T325N 0.879 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 44 32 42.11 63 0 0.00 DDX43 55510 genome.wustl.edu 37 6 74121973 74121973 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 74121973 74121973 G C SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.1326 p.L442F 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 43 14 24.56 48 0 0.00 DDX43 55510 genome.wustl.edu 37 6 74125280 74125280 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 74125280 74125280 G C SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.1806 p.L602F 0.988 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 31 9 22.50 48 0 0.00 DDX46 9879 genome.wustl.edu 37 5 134116909 134116909 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 134116909 134116909 G A SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known silent c.852 p.L284 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 70 33 32.04 70 0 0.00 DDX46 9879 genome.wustl.edu 37 5 134120125 134120125 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 134120125 134120125 G C SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.1236 p.L412F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 29 27 48.21 63 0 0.00 DDX46 9879 genome.wustl.edu 37 5 134143547 134143547 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 134143547 134143547 G C SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known silent c.2064 p.L688 0.831 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 41 31 43.06 52 0 0.00 DDX46 9879 genome.wustl.edu 37 5 134152222 134152222 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 134152222 134152222 G A SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.2539 p.E847K 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 42 11 20.75 36 0 0.00 DDX46 9879 genome.wustl.edu 37 5 134153216 134153216 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134153216 134153216 C T SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.2644 p.L882F 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 60 15 20.00 97 0 0.00 DDX49 54555 genome.wustl.edu 37 19 19035769 19035769 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 19035769 19035769 C T SNP DDX49 ENST00000438170 human ensembl 70_37 +1 known missense c.716 p.S239L 0.002 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX49 HGNC ENSG00000105671 29 6 17.14 25 0 0.00 DDX5 1655 genome.wustl.edu 37 17 62496313 62496313 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62496313 62496313 C G SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1573 p.D525H 1.000 pfam_P68HR pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 41 34 45.33 66 0 0.00 DDX5 1655 genome.wustl.edu 37 17 62496426 62496426 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 62496426 62496426 C T SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1460 p.G487E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 12 12 50.00 22 0 0.00 DDX5 1655 genome.wustl.edu 37 17 62498149 62498149 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62498149 62498149 C A SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1195 p.D399Y 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 24 6 20.00 35 0 0.00 DDX5 1655 genome.wustl.edu 37 17 62500815 62500815 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62500815 62500815 C T SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.190 p.D64N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 141 28 16.57 153 0 0.00 DDX5 1655 genome.wustl.edu 37 17 62501870 62501870 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 62501870 62501870 G C SNP DDX5 ENST00000578804 human ensembl 70_37 -1 putative missense c.38 p.S13C 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 43 9 17.31 37 0 0.00 DDX50 79009 genome.wustl.edu 37 10 70670829 70670829 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 70670829 70670829 G A SNP DDX50 ENST00000373585 human ensembl 70_37 +1 known missense c.466 p.G156R 1.000 smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 58 23 28.40 69 0 0.00 DDX50 79009 genome.wustl.edu 37 10 70706374 70706374 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 70706374 70706374 G T SNP DDX50 ENST00000373585 human ensembl 70_37 +1 known silent c.2202 p.R734 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 22 6 21.43 29 0 0.00 DDX52 11056 genome.wustl.edu 37 17 35986056 35986056 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 35986056 35986056 C T SNP DDX52 ENST00000349699 human ensembl 70_37 -1 known missense c.1021 p.A341T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 76 19 20.00 123 0 0.00 DDX52 11056 genome.wustl.edu 37 17 36002173 36002173 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 17 36002173 36002173 C G SNP DDX52 ENST00000349699 human ensembl 70_37 -1 known missense c.252 p.E84D 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 98 20 16.95 65 0 0.00 DDX53 168400 genome.wustl.edu 37 X 23019162 23019162 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 23019162 23019162 T C SNP DDX53 ENST00000327968 human ensembl 70_37 +1 known missense c.988 p.Y330H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 24 16 40.00 46 0 0.00 DDX53 168400 genome.wustl.edu 37 X 23019522 23019522 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 23019522 23019522 G C SNP DDX53 ENST00000327968 human ensembl 70_37 +1 known missense c.1348 p.E450Q 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 26 18 40.91 29 0 0.00 DDX54 79039 genome.wustl.edu 37 12 113602037 113602037 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 113602037 113602037 G A SNP DDX54 ENST00000314045 human ensembl 70_37 -1 known silent c.1773 p.R591 0.027 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 33 13 28.26 27 0 0.00 DDX54 79039 genome.wustl.edu 37 12 113618744 113618744 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113618744 113618744 G A SNP DDX54 ENST00000314045 human ensembl 70_37 -1 known silent c.294 p.F98 1.000 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 22 13 37.14 46 0 0.00 DDX56 54606 genome.wustl.edu 37 7 44605535 44605535 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44605535 44605535 G A SNP DDX56 ENST00000467318 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DDX56 HGNC ENSG00000136271 15 7 31.82 40 0 0.00 DDX58 23586 genome.wustl.edu 37 9 32485206 32485206 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 32485206 32485206 C T SNP DDX58 ENST00000379883 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.990 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 14 7 33.33 31 0 0.00 DDX59 83479 genome.wustl.edu 37 1 200635689 200635689 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 200635689 200635689 G A SNP DDX59 ENST00000331314 human ensembl 70_37 -1 known silent c.180 p.C60 0.003 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 42 51 54.84 41 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169158512 169158512 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 169158512 169158512 C A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known nonsense c.4336 p.E1446* 0.991 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 16 14 46.67 30 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169167643 169167643 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 169167643 169167643 G A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.4090 p.L1364F 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 43 19 30.65 44 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169169377 169169377 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 169169377 169169377 G C SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.3925 p.Q1309E 0.997 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 29 19 39.58 42 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169172224 169172224 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 169172224 169172224 C G SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.3739 p.E1247Q 0.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 45 21 31.82 68 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169196651 169196651 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 169196651 169196651 C T SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.2149 p.A717T 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 46 19 29.23 66 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169197246 169197246 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 169197246 169197246 C G SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.2065 p.E689Q 0.992 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 21 19 47.50 37 0 0.00 DDX60 55601 genome.wustl.edu 37 4 169208334 169208334 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 169208334 169208334 C A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.1204 p.D402Y 0.005 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 7 8 53.33 23 0 0.00 DDX60L 91351 genome.wustl.edu 37 4 169317264 169317264 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 169317264 169317264 T - DEL DDX60L ENST00000260184 human ensembl 70_37 -1 known frame_shift_del c.3503 p.N1168fs 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 5 4 44.44 11 0 0.00 DDX60L 91351 genome.wustl.edu 37 4 169362599 169362599 + Missense_Mutation SNP C C A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 169362599 169362599 C A SNP DDX60L ENST00000260184 human ensembl 70_37 -1 known missense c.1183 p.D395Y 0.374 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 49 12 19.67 44 0 0.00 DDX60L 91351 genome.wustl.edu 37 4 169411576 169411576 + RNA SNP T T A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 169411576 169411576 T A SNP DDX60L ENST00000505150 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors DDX60L HGNC ENSG00000181381 34 7 17.07 45 0 0.00 DECR1 1666 genome.wustl.edu 37 8 91013777 91013777 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 91013777 91013777 C T SNP DECR1 ENST00000220764 human ensembl 70_37 +1 known silent c.57 p.L19 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 23 34 59.65 67 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161091814 161091815 + RNA INS - - A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 161091814 161091815 - A INS DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.993:1.000 - - - no_errors DEDD HGNC ENSG00000158796 11 5 31.25 20 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161091814 161091815 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 161091814 161091815 - A INS DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.993:1.000 - - - no_errors DEDD HGNC ENSG00000158796 18 6 25.00 25 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161091834 161091834 + RNA DEL C C - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 161091834 161091834 C - DEL DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.032 - - - no_errors DEDD HGNC ENSG00000158796 6 2 25.00 18 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161091923 161091923 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161091923 161091923 G A SNP DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors DEDD HGNC ENSG00000158796 200 47 19.03 193 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161092117 161092117 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161092117 161092117 G A SNP DEDD ENST00000368005 human ensembl 70_37 -1 known silent c.867 p.F289 1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 137 57 29.38 168 0 0.00 DEDD 9191 genome.wustl.edu 37 1 161092266 161092266 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161092266 161092266 G T SNP DEDD ENST00000368005 human ensembl 70_37 -1 known missense c.718 p.L240M 1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 171 70 29.05 179 0 0.00 DEDD2 162989 genome.wustl.edu 37 19 42720852 42720852 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 42720852 42720852 G A SNP DEDD2 ENST00000595337 human ensembl 70_37 -1 known missense c.308 p.A103V 0.980 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 2 3 60.00 10 0 0.00 DEF6 50619 genome.wustl.edu 37 6 35280419 35280419 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 35280419 35280419 G A SNP DEF6 ENST00000316637 human ensembl 70_37 +1 known missense c.677 p.R226Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 32 16 33.33 44 0 0.00 DEF6 50619 genome.wustl.edu 37 6 35288970 35288970 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 35288970 35288970 G A SNP DEF6 ENST00000316637 human ensembl 70_37 +1 known missense c.1679 p.R560H 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 11 5 31.25 23 0 0.00 DEFB1 1672 genome.wustl.edu 37 8 6728244 6728244 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 6728244 6728244 G C SNP DEFB1 ENST00000297439 human ensembl 70_37 -1 known missense c.166 p.Q56E 0.000 pfam_Defensin_beta-typ pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 33 19 36.54 85 0 0.00 DEFB1 1672 genome.wustl.edu 37 8 6735347 6735347 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 6735347 6735347 G C SNP DEFB1 ENST00000297439 human ensembl 70_37 -1 known silent c.33 p.L11 0.527 NULL pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 5 7 58.33 42 0 0.00 DEFB104A 140596 genome.wustl.edu 37 8 7698576 7698576 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 7698576 7698576 G A SNP DEFB104A ENST00000314265 human ensembl 70_37 +1 known missense c.79 p.D27N 0.000 NULL NULL - no_errors DEFB104A HGNC ENSG00000176782 63 11 14.86 71 0 0.00 DEFB110 245913 genome.wustl.edu 37 6 49976901 49976901 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 49976901 49976901 C G SNP DEFB110 ENST00000393660 human ensembl 70_37 -1 known missense c.139 p.E47Q 0.993 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 17 5 22.73 82 0 0.00 DEFB113 245927 genome.wustl.edu 37 6 49936402 49936402 + Silent SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 49936402 49936402 G T SNP DEFB113 ENST00000398718 human ensembl 70_37 -1 known silent c.237 p.L79 0.000 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 38 7 15.56 32 0 0.00 DEFB114 245928 genome.wustl.edu 37 6 49928006 49928006 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 49928006 49928006 C G SNP DEFB114 ENST00000322066 human ensembl 70_37 -1 known nonstop c.209 p.*70S 0.018 NULL NULL - no_errors DEFB114 HGNC ENSG00000177684 9 8 47.06 26 0 0.00 DEFB116 245930 genome.wustl.edu 37 20 29896334 29896334 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 29896334 29896334 G A SNP DEFB116 ENST00000400549 human ensembl 70_37 -1 known nonsense c.55 p.Q19* 0.256 NULL NULL - no_errors DEFB116 HGNC ENSG00000215545 23 18 43.90 35 0 0.00 DEFB119 245932 genome.wustl.edu 37 20 29965028 29965028 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 29965028 29965028 G C SNP DEFB119 ENST00000492344 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors DEFB119 HGNC ENSG00000180483 11 12 52.17 19 0 0.00 DEFB123 245936 genome.wustl.edu 37 20 30028540 30028540 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 30028540 30028540 C G SNP DEFB123 ENST00000376309 human ensembl 70_37 +1 known silent c.39 p.L13 0.998 NULL NULL - no_errors DEFB123 HGNC ENSG00000180424 76 34 30.91 72 0 0.00 DEFB124 245937 genome.wustl.edu 37 20 30060720 30060721 + RNA INS - - CA TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 20 30060720 30060721 - CA INS DEFB124 ENST00000481595 human ensembl 70_37 -1 known rna NULL NULL 0.259:0.435 - - - no_errors DEFB124 HGNC ENSG00000180383 17 5 22.73 10 0 0.00 DEFB132 400830 genome.wustl.edu 37 20 238470 238470 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 238470 238470 G A SNP DEFB132 ENST00000382376 human ensembl 70_37 +1 known silent c.51 p.V17 0.094 NULL NULL - no_errors DEFB132 HGNC ENSG00000186458 29 11 27.50 27 0 0.00 DEFB134 613211 genome.wustl.edu 37 8 11851600 11851600 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 11851600 11851600 C G SNP DEFB134 ENST00000526438 human ensembl 70_37 -1 known missense c.90 p.K30N 0.001 NULL NULL - no_errors DEFB134 HGNC ENSG00000205882 30 11 26.83 42 0 0.00 DEFB134 613211 genome.wustl.edu 37 8 11851611 11851611 + Splice_Site SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 11851611 11851611 C T SNP DEFB134 ENST00000382205 human ensembl 70_37 -1 novel splice_site c.59-1 e2-1 0.017 - - - no_errors DEFB134 HGNC ENSG00000205882 31 7 18.42 43 0 0.00 DEFB4B 100289462 genome.wustl.edu 37 8 7272594 7272594 + Silent SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 7272594 7272594 A G SNP DEFB4B ENST00000318157 human ensembl 70_37 -1 known silent c.84 p.P28 0.000 pfam_Defensin_beta-typ pfam_Defensin_beta-typ,smart_Defensin_beta/neutrophil - no_errors DEFB4B HGNC ENSG00000177257 15 7 31.82 15 0 0.00 DEGS1 8560 genome.wustl.edu 37 1 224377971 224377971 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 224377971 224377971 C T SNP DEGS1 ENST00000323699 human ensembl 70_37 +1 known missense c.775 p.H259Y 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 44 13 22.81 34 0 0.00 DEGS2 123099 genome.wustl.edu 37 14 100615443 100615443 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 100615443 100615443 G A SNP DEGS2 ENST00000305631 human ensembl 70_37 -1 known silent c.687 p.F229 0.994 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 106 33 23.57 177 0 0.00 DEGS2 123099 genome.wustl.edu 37 14 100615443 100615443 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 100615443 100615443 G A SNP DEGS2 ENST00000305631 human ensembl 70_37 -1 known silent c.687 p.F229 0.994 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 26 19 42.22 60 0 0.00 DEK 7913 genome.wustl.edu 37 6 18236826 18236826 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 18236826 18236826 C G SNP DEK ENST00000397239 human ensembl 70_37 -1 known missense c.904 p.E302Q 1.000 NULL pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd - no_errors DEK HGNC ENSG00000124795 68 24 26.09 79 0 0.00 DENND1A 57706 genome.wustl.edu 37 9 126150025 126150025 + Missense_Mutation SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 126150025 126150025 A G SNP DENND1A ENST00000394219 human ensembl 70_37 -1 known missense c.1594 p.S532P 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 34 23 40.35 51 0 0.00 DENND1B 163486 genome.wustl.edu 37 1 197552366 197552366 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 197552366 197552366 G C SNP DENND1B ENST00000367396 human ensembl 70_37 -1 known missense c.1065 p.F355L 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 16 7 30.43 27 0 0.00 DENND1C 79958 genome.wustl.edu 37 19 6471304 6471304 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 6471304 6471304 G A SNP DENND1C ENST00000381480 human ensembl 70_37 -1 known missense c.1262 p.S421F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 49 9 15.52 45 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140266969 140266969 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 140266969 140266969 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.1696 p.E566K 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 10 13 56.52 24 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140273623 140273623 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 140273623 140273623 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known silent c.1431 p.K477 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 242 57 19.06 248 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140301267 140301267 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 140301267 140301267 G A SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.931 p.P311S 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 17 6 26.09 55 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140301317 140301317 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 140301317 140301317 C A SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.881 p.R294I 0.996 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 10 7 38.89 32 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140302004 140302004 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 140302004 140302004 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.194 p.S65N 0.006 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 37 12 24.49 43 0 0.00 DENND2A 27147 genome.wustl.edu 37 7 140302122 140302122 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 140302122 140302122 T G SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known silent c.76 p.R26 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 31 4 11.43 51 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115142027 115142027 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 115142027 115142027 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known silent c.2151 p.P717 0.298 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 26 14 35.00 42 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115142027 115142027 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 115142027 115142027 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known silent c.2151 p.P717 0.298 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 47 25 34.25 102 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115143494 115143494 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 115143494 115143494 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.1903 p.A635T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 48 15 23.81 71 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115153695 115153695 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 115153695 115153695 C G SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.1368 p.K456N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 69 26 27.37 66 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115166155 115166155 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 115166155 115166155 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 86 10 10.31 65 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115166239 115166239 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 115166239 115166239 G A SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known nonsense c.832 p.Q278* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 41 9 18.00 55 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115167965 115167965 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 115167965 115167965 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.641 p.R214H 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 93 15 13.89 152 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115168296 115168296 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 115168296 115168296 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.310 p.D104N 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 86 14 14.00 271 0 0.00 DENND2C 163259 genome.wustl.edu 37 1 115168413 115168413 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 115168413 115168413 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.193 p.E65K 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 48 15 23.81 57 0 0.00 DENND2D 79961 genome.wustl.edu 37 1 111731372 111731372 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 111731372 111731372 G C SNP DENND2D ENST00000357640 human ensembl 70_37 -1 known missense c.1051 p.Q351E 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2D HGNC ENSG00000162777 41 9 18.00 28 0 0.00 DENND3 22898 genome.wustl.edu 37 8 142176354 142176354 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 142176354 142176354 C T SNP DENND3 ENST00000262585 human ensembl 70_37 +1 known missense c.1379 p.S460L 0.001 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 14 5 26.32 30 0 0.00 DENND3 22898 genome.wustl.edu 37 8 142200469 142200469 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 142200469 142200469 G A SNP DENND3 ENST00000262585 human ensembl 70_37 +1 known missense c.3092 p.R1031Q 0.153 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 111 80 41.88 62 0 0.00 DENND4A 10260 genome.wustl.edu 37 15 65983274 65983274 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 65983274 65983274 C T SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.3655 p.E1219K 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 22 24 52.17 46 0 0.00 DENND4A 10260 genome.wustl.edu 37 15 65994218 65994218 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 65994218 65994218 C T SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.2441 p.R814H 1.000 tigrfam_Pentatricopeptide_repeat pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 5 3 37.50 33 0 0.00 DENND4A 10260 genome.wustl.edu 37 15 65994801 65994801 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65994801 65994801 G C SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.2272 p.Q758E 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 20 16 44.44 20 0 0.00 DENND4A 10260 genome.wustl.edu 37 15 66021429 66021429 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 66021429 66021429 C G SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.1468 p.D490H 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 9 4 30.77 13 0 0.00 DENND4A 10260 genome.wustl.edu 37 15 66048590 66048590 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 66048590 66048590 C G SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.199 p.D67H 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 37 15 28.85 40 0 0.00 DENND4B 9909 genome.wustl.edu 37 1 153902843 153902843 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 153902843 153902843 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.4421 p.R1474Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 64 36 36.00 83 0 0.00 DENND4B 9909 genome.wustl.edu 37 1 153905691 153905691 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 153905691 153905691 G A SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known silent c.3435 p.F1145 0.024 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 78 11 12.36 52 0 0.00 DENND4B 9909 genome.wustl.edu 37 1 153906649 153906649 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 153906649 153906649 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.2903 p.R968Q 0.942 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 29 16 35.56 38 0 0.00 DENND4B 9909 genome.wustl.edu 37 1 153910246 153910246 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 153910246 153910246 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.2059 p.E687K 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 19 8 29.63 24 0 0.00 DENND4B 9909 genome.wustl.edu 37 1 153912202 153912202 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 153912202 153912202 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.1682 p.R561Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 45 20 30.77 44 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19300261 19300261 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 19300261 19300261 G C SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.535 p.E179Q 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 86 46 34.85 135 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19300283 19300283 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 19300283 19300283 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.557 p.S186F 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 45 32 41.56 83 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19316628 19316628 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19316628 19316628 A C SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.890 p.K297T 0.999 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 22 14 38.89 33 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19336796 19336796 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 19336796 19336796 C T SNP DENND4C ENST00000307015 human ensembl 70_37 +1 known silent c.420 p.I140 1.000 NULL NULL - no_errors DENND4C HGNC ENSG00000137145 41 34 45.33 54 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19346894 19346894 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 19346894 19346894 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.3272 p.S1091L 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 30 10 25.00 19 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19352601 19352601 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 19352601 19352601 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known silent c.3864 p.F1288 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 13 6 31.58 26 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19360377 19360377 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 19360377 19360377 C A SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4441 p.Q1481K 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 35 4 10.26 63 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19369939 19369939 + Missense_Mutation SNP A A G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 19369939 19369939 A G SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4774 p.I1592V 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 66 11 14.29 89 0 0.00 DENND4C 55667 genome.wustl.edu 37 9 19372056 19372056 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 19372056 19372056 G A SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4907 p.G1636E 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 42 27 38.57 48 0 0.00 DENND5A 23258 genome.wustl.edu 37 11 9182287 9182287 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 9182287 9182287 G T SNP DENND5A ENST00000328194 human ensembl 70_37 -1 known silent c.2409 p.I803 0.976 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 13 3 18.75 29 0 0.00 DENND5A 23258 genome.wustl.edu 37 11 9199895 9199895 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 9199895 9199895 G C SNP DENND5A ENST00000328194 human ensembl 70_37 -1 known missense c.1690 p.Q564E 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 27 3 10.00 35 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31540647 31540647 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 31540647 31540647 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.3820 p.A1274T 1.000 pfam_Run,smart_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 6 13 68.42 26 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31555446 31555446 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 31555446 31555446 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.3040 p.E1014K 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2 pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 39 28 41.18 111 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31566465 31566465 + Silent SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 31566465 31566465 A G SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known silent c.2691 p.D897 0.694 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 51 6 10.53 76 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31577564 31577564 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 31577564 31577564 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.2401 p.E801K 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 59 16 21.33 62 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31579359 31579359 + Splice_Site SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 31579359 31579359 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known splice_site c.2212-1 e10-1 1.000 - - - no_errors DENND5B HGNC ENSG00000170456 29 14 32.56 45 0 0.00 DENND5B 160518 genome.wustl.edu 37 12 31613205 31613205 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 31613205 31613205 C G SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.1120 p.D374H 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 28 9 24.32 43 0 0.00 DENND6A 201627 genome.wustl.edu 37 3 57616535 57616535 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 57616535 57616535 C G SNP DENND6A ENST00000311128 human ensembl 70_37 -1 known missense c.1424 p.R475T 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 22 19 46.34 46 0 0.00 DENND6B 414918 genome.wustl.edu 37 22 50751893 50751893 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50751893 50751893 C G SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known missense c.1329 p.K443N 0.944 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC ENSG00000205593 39 22 36.07 70 0 0.00 DENND6B 414918 genome.wustl.edu 37 22 50752655 50752655 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50752655 50752655 C T SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known silent c.1119 p.K373 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC ENSG00000205593 70 20 22.22 103 0 0.00 DENND6B 414918 genome.wustl.edu 37 22 50757410 50757410 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 22 50757410 50757410 C T SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known missense c.200 p.R67Q 0.980 pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9 pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC ENSG00000205593 16 4 20.00 16 0 0.00 DEPDC1 55635 genome.wustl.edu 37 1 68954150 68954152 + In_Frame_Del DEL CTT CTT - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 68954150 68954152 CTT - DEL DEPDC1 ENST00000456315 human ensembl 70_37 -1 known in_frame_del c.628_626 p.E209in_frame_del 1.000:1.000:1.000 NULL pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 32 5 13.51 95 0 0.00 DEPDC1B 55789 genome.wustl.edu 37 5 59940689 59940689 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 59940689 59940689 G A SNP DEPDC1B ENST00000265036 human ensembl 70_37 -1 known missense c.592 p.L198F 0.998 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 28 5 15.15 46 0 0.00 DEPDC4 120863 genome.wustl.edu 37 12 100649885 100649885 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 100649885 100649885 G C SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.820 p.L274V 0.952 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 141 32 18.39 213 0 0.00 DEPDC4 120863 genome.wustl.edu 37 12 100649885 100649885 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 100649885 100649885 G C SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.820 p.L274V 0.952 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 56 14 20.00 39 0 0.00 DEPDC4 120863 genome.wustl.edu 37 12 100657593 100657593 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 100657593 100657593 C G SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.236 p.R79T 0.998 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 54 36 39.56 58 0 0.00 DEPDC5 9681 genome.wustl.edu 37 22 32193604 32193604 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 32193604 32193604 G C SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.786 p.E262D 1.000 pfam_DUF3608 pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 20 3 13.04 11 0 0.00 DEPDC5 9681 genome.wustl.edu 37 22 32242914 32242914 + Nonsense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 32242914 32242914 C A SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known nonsense c.3116 p.S1039* 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 68 16 18.82 72 0 0.00 DEPDC5 9681 genome.wustl.edu 37 22 32289577 32289577 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 32289577 32289577 T C SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.3977 p.V1326A 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 39 26 40.00 79 0 0.00 DEPDC5 9681 genome.wustl.edu 37 22 32302364 32302364 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 22 32302364 32302364 G A SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.4627 p.D1543N 0.991 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 75 18 19.35 111 0 0.00 DERL1 79139 genome.wustl.edu 37 8 124033739 124033739 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 124033739 124033739 C T SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known missense c.454 p.A152T 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 47 8 14.55 43 0 0.00 DERL1 79139 genome.wustl.edu 37 8 124042857 124042857 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 124042857 124042857 G A SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known nonsense c.253 p.R85* 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 35 52 59.09 38 0 0.00 DERL1 79139 genome.wustl.edu 37 8 124042857 124042857 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 124042857 124042857 G A SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known nonsense c.253 p.R85* 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 53 40 43.01 86 0 0.00 DERL3 91319 genome.wustl.edu 37 22 24176926 24176926 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 24176926 24176926 G A SNP DERL3 ENST00000464023 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DERL3 HGNC ENSG00000099958 35 26 41.94 61 0 0.00 DERL3 91319 genome.wustl.edu 37 22 24176933 24176933 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 24176933 24176933 G A SNP DERL3 ENST00000464023 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DERL3 HGNC ENSG00000099958 38 30 44.12 63 0 0.00 DERL3 91319 genome.wustl.edu 37 22 24179859 24179859 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 24179859 24179859 G A SNP DERL3 ENST00000318109 human ensembl 70_37 -1 known silent c.510 p.L170 0.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 45 18 28.57 52 0 0.00 DERL3 91319 genome.wustl.edu 37 22 24180753 24180753 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 24180753 24180753 G T SNP DERL3 ENST00000318109 human ensembl 70_37 -1 known missense c.231 p.F77L 1.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 19 14 42.42 43 0 0.00 DERL3 91319 genome.wustl.edu 37 22 24180756 24180756 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 24180756 24180756 G C SNP DERL3 ENST00000404056 human ensembl 70_37 -1 novel missense c.241 p.L81V 0.995 NULL pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 24 19 44.19 43 0 0.00 DESI1 27351 genome.wustl.edu 37 22 41999299 41999299 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 41999299 41999299 G T SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel missense c.377 p.S126Y 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC ENSG00000100418 24 4 14.29 34 0 0.00 DESI1 27351 genome.wustl.edu 37 22 41999352 41999352 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 41999352 41999352 A G SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.324 p.C108 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC ENSG00000100418 156 37 19.17 229 0 0.00 DESI1 27351 genome.wustl.edu 37 22 41999352 41999352 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 41999352 41999352 A G SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.324 p.C108 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC ENSG00000100418 35 10 22.22 25 0 0.00 DESI1 27351 genome.wustl.edu 37 22 42016793 42016793 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 42016793 42016793 G C SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.51 p.S17 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC ENSG00000100418 241 56 18.86 221 0 0.00 DESI2 51029 genome.wustl.edu 37 1 244852595 244852595 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 244852595 244852595 G A SNP DESI2 ENST00000302550 human ensembl 70_37 +1 known missense c.160 p.E54K 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI2 HGNC ENSG00000121644 27 14 34.15 30 0 0.00 DESI2 51029 genome.wustl.edu 37 1 244869026 244869026 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 244869026 244869026 G A SNP DESI2 ENST00000302550 human ensembl 70_37 +1 known missense c.520 p.A174T 0.998 NULL pfam_DUF862_euk - no_errors DESI2 HGNC ENSG00000121644 36 4 10.00 36 0 0.00 DET1 55070 genome.wustl.edu 37 15 89060067 89060067 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89060067 89060067 T C SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.1442 p.D481G 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 25 8 24.24 49 0 0.00 DET1 55070 genome.wustl.edu 37 15 89070930 89070930 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 89070930 89070930 C T SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.1204 p.E402K 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 32 5 13.51 35 0 0.00 DET1 55070 genome.wustl.edu 37 15 89074464 89074464 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 89074464 89074464 G A SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.506 p.S169L 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 18 10 35.71 42 0 0.00 DFFA 1676 genome.wustl.edu 37 1 10532464 10532464 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 10532464 10532464 G T SNP DFFA ENST00000377038 human ensembl 70_37 -1 known missense c.52 p.L18I 0.339 pfam_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD - no_errors DFFA HGNC ENSG00000160049 31 22 41.51 57 0 0.00 DFFB 1677 genome.wustl.edu 37 1 3782246 3782246 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 3782246 3782246 C G SNP DFFB ENST00000339350 human ensembl 70_37 +1 known nonsense c.281 p.S94* 0.000 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors DFFB HGNC ENSG00000169598 25 4 13.79 41 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117165054 117165054 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165054 117165054 C G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.2704 p.E902Q 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 24 29 54.72 66 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117165217 117165217 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165217 117165217 C T SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known splice_site c.2542-1 e12-1 1.000 - - - no_errors DFNB31 HGNC ENSG00000095397 14 9 39.13 30 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117165578 117165578 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165578 117165578 C T SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known silent c.2460 p.K820 0.989 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 41 22 34.92 58 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117170230 117170230 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117170230 117170230 G A SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known silent c.1695 p.S565 0.989 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 34 27 44.26 81 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117240670 117240670 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117240670 117240670 G C SNP DFNB31 ENST00000374057 human ensembl 70_37 -1 known missense c.1000 p.L334V 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 20 13 39.39 34 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117240709 117240709 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117240709 117240709 G C SNP DFNB31 ENST00000374057 human ensembl 70_37 -1 known missense c.961 p.Q321E 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 26 11 29.73 43 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117240927 117240927 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117240927 117240927 G A SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.743 p.S248L 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 20 16 44.44 54 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117266531 117266531 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 117266531 117266531 A G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.551 p.V184A 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 31 6 15.79 35 0 0.00 DFNB31 25861 genome.wustl.edu 37 9 117266634 117266634 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 117266634 117266634 C G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.448 p.E150Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 32 14 30.43 42 0 0.00 DFNB59 494513 genome.wustl.edu 37 2 179325119 179325119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179325119 179325119 G A SNP DFNB59 ENST00000375129 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 54 18 25.00 44 0 0.00 DGAT1 8694 genome.wustl.edu 37 8 145540570 145540570 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145540570 145540570 C A SNP DGAT1 ENST00000526479 human ensembl 70_37 -1 novel nonsense c.760 p.E254* 1.000 NULL superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 42 58 58.00 32 0 0.00 DGAT1 8694 genome.wustl.edu 37 8 145540701 145540701 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145540701 145540701 G A SNP DGAT1 ENST00000332324 human ensembl 70_37 -1 known missense c.1232 p.S411L 0.967 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 37 16 30.19 27 0 0.00 DGAT2 84649 genome.wustl.edu 37 11 75480139 75480139 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 75480139 75480139 G C SNP DGAT2 ENST00000228027 human ensembl 70_37 +1 known missense c.103 p.E35Q 0.001 NULL pfam_DAGAT - no_errors DGAT2 HGNC ENSG00000062282 32 8 20.00 41 0 0.00 DGAT2L6 347516 genome.wustl.edu 37 X 69420191 69420191 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 69420191 69420191 C G SNP DGAT2L6 ENST00000333026 human ensembl 70_37 +1 known missense c.354 p.I118M 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC ENSG00000184210 88 16 15.38 77 0 0.00 DGAT2L6 347516 genome.wustl.edu 37 X 69424301 69424301 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 69424301 69424301 A G SNP DGAT2L6 ENST00000333026 human ensembl 70_37 +1 known missense c.794 p.H265R 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC ENSG00000184210 113 29 20.42 140 0 0.00 DGCR14 8220 genome.wustl.edu 37 22 19121936 19121936 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19121936 19121936 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known missense c.1204 p.V402M 0.999 NULL pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 81 26 24.30 116 0 0.00 DGCR14 8220 genome.wustl.edu 37 22 19122626 19122626 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19122626 19122626 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known silent c.1098 p.K366 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 68 15 18.07 63 0 0.00 DGCR14 8220 genome.wustl.edu 37 22 19122634 19122634 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19122634 19122634 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known missense c.1090 p.A364T 0.999 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 72 18 20.00 63 0 0.00 DGCR2 9993 genome.wustl.edu 37 22 19036055 19036055 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 19036055 19036055 C T SNP DGCR2 ENST00000263196 human ensembl 70_37 -1 known missense c.904 p.E302K 1.000 smart_VWF_C pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 260 165 38.64 669 1 0.15 DGCR2 9993 genome.wustl.edu 37 22 19109704 19109704 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 19109704 19109704 C T SNP DGCR2 ENST00000263196 human ensembl 70_37 -1 known missense c.16 p.D6N 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 4 5 55.56 8 0 0.00 DGCR5 26220 genome.wustl.edu 37 22 18979648 18979648 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 18979648 18979648 G A SNP DGCR5 ENST00000438934 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR5 HGNC ENSG00000237517 8 4 33.33 9 0 0.00 DGCR5 26220 genome.wustl.edu 37 22 18981843 18981843 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 18981843 18981843 G T SNP DGCR5 ENST00000438934 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors DGCR5 HGNC ENSG00000237517 18 10 35.71 23 0 0.00 DGCR6 8214 genome.wustl.edu 37 22 18893924 18893924 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 18893924 18893924 G C SNP DGCR6 ENST00000331444 human ensembl 70_37 +1 known missense c.37 p.D13H 0.679 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 5 3 37.50 9 0 0.00 DGCR6 8214 genome.wustl.edu 37 22 18894274 18894274 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 18894274 18894274 C G SNP DGCR6 ENST00000480608 human ensembl 70_37 +1 known missense c.307 p.R103G 0.000 NULL pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 17 7 29.17 30 0 0.00 DGCR6 8214 genome.wustl.edu 37 22 18898505 18898505 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 18898505 18898505 G A SNP DGCR6 ENST00000331444 human ensembl 70_37 +1 known silent c.477 p.A159 0.220 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 45 20 30.77 61 0 0.00 DGCR6 8214 genome.wustl.edu 37 22 18899215 18899215 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 18899215 18899215 G A SNP DGCR6 ENST00000436645 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR6 HGNC ENSG00000183628 48 22 31.43 76 0 0.00 DGCR6L 85359 genome.wustl.edu 37 22 20302222 20302222 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 20302222 20302222 C T SNP DGCR6L ENST00000248879 human ensembl 70_37 -1 known silent c.639 p.Q213 0.001 NULL pfam_DGCR6 - no_errors DGCR6L HGNC ENSG00000128185 60 30 33.33 89 0 0.00 DGCR8 54487 genome.wustl.edu 37 22 20074120 20074120 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 20074120 20074120 G C SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known missense c.634 p.D212H 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC ENSG00000128191 115 36 23.84 189 0 0.00 DGCR8 54487 genome.wustl.edu 37 22 20079118 20079118 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20079118 20079118 C G SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known silent c.1467 p.L489 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC ENSG00000128191 32 16 33.33 30 0 0.00 DGCR8 54487 genome.wustl.edu 37 22 20093767 20093767 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20093767 20093767 C T SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known missense c.1856 p.S619F 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC ENSG00000128191 15 9 37.50 28 0 0.00 DGKA 1606 genome.wustl.edu 37 12 56332976 56332976 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56332976 56332976 C G SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.481 p.Q161E 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 23 22 48.89 58 0 0.00 DGKA 1606 genome.wustl.edu 37 12 56333286 56333286 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 56333286 56333286 C G SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.682 p.L228V 0.993 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 26 18 40.91 34 0 0.00 DGKA 1606 genome.wustl.edu 37 12 56347184 56347184 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 56347184 56347184 C T SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.2114 p.T705M 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 59 19 24.36 64 0 0.00 DGKB 1607 genome.wustl.edu 37 7 14216524 14216524 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 14216524 14216524 C T SNP DGKB ENST00000258767 human ensembl 70_37 -1 known silent c.2247 p.R749 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 16 4 19.05 39 0 0.00 DGKB 1607 genome.wustl.edu 37 7 14661096 14661096 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 14661096 14661096 C A SNP DGKB ENST00000258767 human ensembl 70_37 -1 known missense c.1194 p.K398N 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 28 4 12.50 16 0 0.00 DGKB 1607 genome.wustl.edu 37 7 14758207 14758207 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 14758207 14758207 C T SNP DGKB ENST00000258767 human ensembl 70_37 -1 known silent c.426 p.L142 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 35 7 16.67 65 0 0.00 DGKD 8527 genome.wustl.edu 37 2 234294805 234294806 + RNA INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234294805 234294806 - T INS DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors DGKD HGNC ENSG00000077044 22 7 24.14 35 0 0.00 DGKD 8527 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC ENSG00000077044 24 5 17.24 30 0 0.00 DGKD 8527 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC ENSG00000077044 24 4 14.29 22 0 0.00 DGKD 8527 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC ENSG00000077044 37 6 13.95 37 0 0.00 DGKE 8526 genome.wustl.edu 37 17 54926195 54926195 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 54926195 54926195 G A SNP DGKE ENST00000284061 human ensembl 70_37 +1 known missense c.1027 p.D343N 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 23 7 23.33 41 0 0.00 DGKG 1608 genome.wustl.edu 37 3 185906061 185906061 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 185906061 185906061 C G SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.2025 p.K675N 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 140 34 19.54 80 0 0.00 DGKG 1608 genome.wustl.edu 37 3 185986688 185986688 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 185986688 185986688 C A SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.1018 p.V340L 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 29 16 35.56 22 0 0.00 DGKG 1608 genome.wustl.edu 37 3 186006655 186006655 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 186006655 186006655 C T SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.388 p.E130K 0.026 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 43 13 23.21 48 0 0.00 DGKH 160851 genome.wustl.edu 37 13 42733412 42733412 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 42733412 42733412 C G SNP DGKH ENST00000337343 human ensembl 70_37 +1 known missense c.633 p.F211L 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 17 4 19.05 33 0 0.00 DGKH 160851 genome.wustl.edu 37 13 42773749 42773749 + Missense_Mutation SNP G G C TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 13 42773749 42773749 G C SNP DGKH ENST00000337343 human ensembl 70_37 +1 known missense c.2333 p.G778A 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 20 3 13.04 75 0 0.00 DGKH 160851 genome.wustl.edu 37 13 42830423 42830423 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 42830423 42830423 C T SNP DGKH ENST00000498255 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DGKH HGNC ENSG00000102780 60 44 42.31 198 1 0.50 DGKH 160851 genome.wustl.edu 37 13 42830663 42830663 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 42830663 42830663 C T SNP DGKH ENST00000498255 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DGKH HGNC ENSG00000102780 9 5 35.71 26 0 0.00 DGKI 9162 genome.wustl.edu 37 7 137082127 137082127 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 137082127 137082127 C A SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.2986 p.E996* 0.995 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 82 35 29.91 115 0 0.00 DGKI 9162 genome.wustl.edu 37 7 137148328 137148328 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 137148328 137148328 C T SNP DGKI ENST00000424189 human ensembl 70_37 -1 known missense c.2675 p.R892Q 0.999 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 20 3 13.04 24 0 0.00 DGKI 9162 genome.wustl.edu 37 7 137271863 137271863 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 137271863 137271863 G A SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.1405 p.R469* 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 22 9 29.03 68 0 0.00 DGKI 9162 genome.wustl.edu 37 7 137294323 137294323 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 137294323 137294323 C T SNP DGKI ENST00000424189 human ensembl 70_37 -1 known silent c.1026 p.K342 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 21 20 47.62 19 0 0.00 DGKI 9162 genome.wustl.edu 37 7 137294339 137294339 + Nonsense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 137294339 137294339 G C SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.1010 p.S337* 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 56 7 11.11 81 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50111812 50111812 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50111812 50111812 G T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.557 - - - no_errors DGKK HGNC ENSG00000204466 12 7 36.84 23 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50127785 50127785 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 50127785 50127785 C G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors DGKK HGNC ENSG00000204466 79 23 22.55 76 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50130629 50130629 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 50130629 50130629 C T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 36 11 23.40 59 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50131536 50131536 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50131536 50131536 G A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.213 - - - no_errors DGKK HGNC ENSG00000204466 95 20 17.39 125 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50167247 50167247 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 50167247 50167247 G A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.869 - - - no_errors DGKK HGNC ENSG00000204466 55 17 23.61 85 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50213188 50213188 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50213188 50213188 C A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors DGKK HGNC ENSG00000204466 23 12 34.29 37 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50213446 50213446 + RNA SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 50213446 50213446 A G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DGKK HGNC ENSG00000204466 102 68 40.00 119 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50213452 50213452 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 50213452 50213452 C T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.756 - - - no_errors DGKK HGNC ENSG00000204466 69 55 44.35 173 0 0.00 DGKK 139189 genome.wustl.edu 37 X 50213605 50213605 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50213605 50213605 C G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.986 - - - no_errors DGKK HGNC ENSG00000204466 18 3 14.29 22 0 0.00 DGKQ 1609 genome.wustl.edu 37 4 960259 960259 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 960259 960259 G A SNP DGKQ ENST00000273814 human ensembl 70_37 -1 known missense c.1423 p.R475W 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 35 10 22.22 62 0 0.00 DGKZ 8525 genome.wustl.edu 37 11 46388884 46388884 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46388884 46388884 C T SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.772 p.P258S 0.005 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 24 35 59.32 37 0 0.00 DGKZ 8525 genome.wustl.edu 37 11 46389291 46389291 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 46389291 46389291 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.927 p.R309S 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 73 54 42.52 75 0 0.00 DGKZ 8525 genome.wustl.edu 37 11 46395776 46395776 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 46395776 46395776 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.1960 p.E654Q 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 39 16 29.09 85 0 0.00 DGKZ 8525 genome.wustl.edu 37 11 46397639 46397639 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 46397639 46397639 G T SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.2599 p.V867F 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 17 4 19.05 28 0 0.00 DGKZ 8525 genome.wustl.edu 37 11 46397894 46397894 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 46397894 46397894 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.2672 p.G891A 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 53 37 41.11 65 0 0.00 DGUOK 1716 genome.wustl.edu 37 2 74173878 74173878 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74173878 74173878 G A SNP DGUOK ENST00000418996 human ensembl 70_37 +1 known missense c.175 p.G59R 0.998 NULL NULL - no_errors DGUOK HGNC ENSG00000114956 69 11 13.75 64 0 0.00 DGUOK 1716 genome.wustl.edu 37 2 74177749 74177749 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74177749 74177749 C G SNP DGUOK ENST00000264093 human ensembl 70_37 +1 known missense c.481 p.L161V 1.000 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC ENSG00000114956 40 39 49.37 104 0 0.00 DHCR24 1718 genome.wustl.edu 37 1 55317994 55317994 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 55317994 55317994 G A SNP DHCR24 ENST00000371269 human ensembl 70_37 -1 known missense c.1463 p.S488F 1.000 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 113 24 17.52 126 0 0.00 DHCR24 1718 genome.wustl.edu 37 1 55352682 55352682 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 55352682 55352682 G C SNP DHCR24 ENST00000371269 human ensembl 70_37 -1 known silent c.111 p.L37 1.000 superfamily_FAD-bd_2 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 28 9 24.32 22 0 0.00 DHDH 27294 genome.wustl.edu 37 19 49438278 49438278 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49438278 49438278 G A SNP DHDH ENST00000221403 human ensembl 70_37 +1 known missense c.112 p.D38N 0.584 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 114 14 10.94 160 0 0.00 DHFRL1 200895 genome.wustl.edu 37 3 93780081 93780081 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 93780081 93780081 C G SNP DHFRL1 ENST00000314636 human ensembl 70_37 -1 known missense c.275 p.R92T 0.982 pfam_DHFR_dom,superfamily_DHFR-like_dom pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 50 9 15.25 70 0 0.00 DHFRL1 200895 genome.wustl.edu 37 3 93780203 93780203 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 93780203 93780203 C T SNP DHFRL1 ENST00000314636 human ensembl 70_37 -1 known silent c.153 p.V51 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 118 17 12.59 107 0 0.00 DHH 50846 genome.wustl.edu 37 12 49483753 49483753 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 49483753 49483753 C G SNP DHH ENST00000266991 human ensembl 70_37 -1 known missense c.1080 p.L360F 1.000 pfam_Hint_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 33 13 28.26 42 0 0.00 DHH 50846 genome.wustl.edu 37 12 49487995 49487995 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 49487995 49487995 C T SNP DHH ENST00000266991 human ensembl 70_37 -1 known missense c.301 p.E101K 0.994 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 32 31 48.44 29 0 0.00 DHODH 1723 genome.wustl.edu 37 16 72051002 72051002 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 72051002 72051002 G A SNP DHODH ENST00000219240 human ensembl 70_37 +1 known missense c.514 p.E172K 0.064 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 76 50 39.37 88 0 0.00 DHPS 1725 genome.wustl.edu 37 19 12788010 12788010 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 19 12788010 12788010 T C SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.800 p.N267S 0.999 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 45 21 31.82 57 0 0.00 DHPS 1725 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12792434 12792434 G C SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 51 6 10.34 57 0 0.00 DHPS 1725 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 12792434 12792434 G T SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 49 23 31.94 81 0 0.00 DHRS1 115817 genome.wustl.edu 37 14 24765737 24765737 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24765737 24765737 C T SNP DHRS1 ENST00000288111 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC ENSG00000157379 116 29 20.00 175 0 0.00 DHRS12 79758 genome.wustl.edu 37 13 52346018 52346018 + Nonsense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 52346018 52346018 C T SNP DHRS12 ENST00000444610 human ensembl 70_37 -1 known nonsense c.645 p.W215* 0.673 pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 73 20 21.51 129 0 0.00 DHRS12 79758 genome.wustl.edu 37 13 52348140 52348140 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52348140 52348140 G A SNP DHRS12 ENST00000444610 human ensembl 70_37 -1 known nonsense c.541 p.Q181* 1.000 pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 84 29 25.66 125 0 0.00 DHRS3 9249 genome.wustl.edu 37 1 12632817 12632817 + Nonsense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 12632817 12632817 G A SNP DHRS3 ENST00000376223 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 32 16 32.65 52 0 0.00 DHRS3 9249 genome.wustl.edu 37 1 12677172 12677172 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 12677172 12677172 C T SNP DHRS3 ENST00000376223 human ensembl 70_37 -1 known missense c.182 p.R61H 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 39 11 22.00 75 0 0.00 DHRS4-AS1 55449 genome.wustl.edu 37 14 24422973 24422973 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 24422973 24422973 G A SNP DHRS4-AS1 ENST00000553454 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 47 8 14.55 83 0 0.00 DHRS4L2 317749 genome.wustl.edu 37 14 24458159 24458159 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24458159 24458159 G A SNP DHRS4L2 ENST00000335125 human ensembl 70_37 +1 known missense c.3 p.M1I 0.147 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS4L2 HGNC ENSG00000187630 120 38 24.05 224 0 0.00 DHRS7B 25979 genome.wustl.edu 37 17 21094389 21094389 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 21094389 21094389 C G SNP DHRS7B ENST00000395511 human ensembl 70_37 +1 known missense c.901 p.R301G 0.917 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 24 16 40.00 54 0 0.00 DHRS9 10170 genome.wustl.edu 37 2 169938392 169938392 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 169938392 169938392 G T SNP DHRS9 ENST00000432060 human ensembl 70_37 +1 known missense c.481 p.V161F 0.999 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 34 4 10.53 34 0 0.00 DHRS9 10170 genome.wustl.edu 37 2 169952147 169952147 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 169952147 169952147 C G SNP DHRS9 ENST00000432060 human ensembl 70_37 +1 known missense c.1010 p.P337R 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 32 26 44.83 27 0 0.00 DHRSX 207063 genome.wustl.edu 37 X 2161134 2161134 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 2161134 2161134 G A SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.734 p.T245M 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 105 15 12.50 111 0 0.00 DHRSX 207063 genome.wustl.edu 37 X 2161183 2161183 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a X 2161183 2161183 C T SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.685 p.E229K 0.811 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 79 13 14.13 121 0 0.00 DHRSX 207063 genome.wustl.edu 37 X 2184871 2184871 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 2184871 2184871 G A SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.506 p.S169F 0.991 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 112 37 24.83 192 0 0.00 DHRSX 207063 genome.wustl.edu 37 X 2184919 2184919 + Missense_Mutation SNP A A T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 2184919 2184919 A T SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.458 p.L153Q 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 199 45 18.44 161 0 0.00 DHTKD1 55526 genome.wustl.edu 37 10 12133641 12133641 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12133641 12133641 C G SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.1117 p.P373A 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 26 18 40.91 62 0 0.00 DHTKD1 55526 genome.wustl.edu 37 10 12142234 12142234 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 12142234 12142234 C G SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.1729 p.L577V 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 23 15 39.47 31 0 0.00 DHTKD1 55526 genome.wustl.edu 37 10 12159690 12159690 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12159690 12159690 C A SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.2338 p.Q780K 0.996 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 40 21 34.43 65 0 0.00 DHTKD1 55526 genome.wustl.edu 37 10 12159690 12159690 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 12159690 12159690 C T SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known nonsense c.2338 p.Q780* 0.996 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 56 15 21.13 92 0 0.00 DHTKD1 55526 genome.wustl.edu 37 10 12160859 12160859 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 12160859 12160859 C T SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known silent c.2514 p.L838 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 33 24 42.11 39 0 0.00 DHX15 1665 genome.wustl.edu 37 4 24534694 24534694 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 24534694 24534694 C T SNP DHX15 ENST00000512903 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DHX15 HGNC ENSG00000109606 24 8 24.24 34 0 0.00 DHX15 1665 genome.wustl.edu 37 4 24578195 24578195 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 24578195 24578195 C G SNP DHX15 ENST00000336812 human ensembl 70_37 -1 known missense c.178 p.E60Q 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 42 27 39.13 53 0 0.00 DHX15 1665 genome.wustl.edu 37 4 24585975 24585975 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 24585975 24585975 G C SNP DHX15 ENST00000336812 human ensembl 70_37 -1 known silent c.42 p.P14 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 22 15 40.54 65 0 0.00 DHX16 8449 genome.wustl.edu 37 6 30633382 30633382 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 30633382 30633382 G A SNP DHX16 ENST00000376442 human ensembl 70_37 -1 known silent c.795 p.H265 0.131 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 16 19 54.29 35 0 0.00 DHX16 8449 genome.wustl.edu 37 6 30638915 30638915 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30638915 30638915 C A SNP DHX16 ENST00000376442 human ensembl 70_37 -1 known missense c.344 p.G115V 0.254 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 8 74 90.24 73 0 0.00 DHX29 54505 genome.wustl.edu 37 5 54567958 54567958 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54567958 54567958 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.2821 p.D941N 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 35 26 42.62 34 0 0.00 DHX29 54505 genome.wustl.edu 37 5 54570469 54570469 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 54570469 54570469 G C SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known nonsense c.2663 p.S888* 0.983 smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 26 15 36.59 41 0 0.00 DHX29 54505 genome.wustl.edu 37 5 54581210 54581210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 54581210 54581210 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.1267 p.V423I 0.967 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 19 8 29.63 14 0 0.00 DHX29 54505 genome.wustl.edu 37 5 54585104 54585104 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 54585104 54585104 C A SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known nonsense c.1060 p.E354* 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 20 13 39.39 69 0 0.00 DHX29 54505 genome.wustl.edu 37 5 54591326 54591326 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 54591326 54591326 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.532 p.E178K 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 32 31 49.21 49 0 0.00 DHX30 22907 genome.wustl.edu 37 3 47882630 47882630 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 47882630 47882630 G C SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.630 p.M210I 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 14 3 17.65 20 0 0.00 DHX30 22907 genome.wustl.edu 37 3 47884655 47884655 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 47884655 47884655 C G SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known silent c.849 p.L283 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 52 26 33.33 121 0 0.00 DHX30 22907 genome.wustl.edu 37 3 47887268 47887268 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47887268 47887268 G A SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.1018 p.E340K 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 14 4 22.22 36 0 0.00 DHX30 22907 genome.wustl.edu 37 3 47889784 47889784 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 47889784 47889784 G C SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.2401 p.E801Q 1.000 pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 49 10 16.95 52 0 0.00 DHX32 55760 genome.wustl.edu 37 10 127529516 127529516 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 127529516 127529516 C G SNP DHX32 ENST00000284690 human ensembl 70_37 -1 known missense c.1593 p.L531F 0.007 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 32 28 46.67 73 0 0.00 DHX32 55760 genome.wustl.edu 37 10 127542656 127542656 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 127542656 127542656 G C SNP DHX32 ENST00000284690 human ensembl 70_37 -1 known silent c.966 p.L322 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 173 30 14.78 183 0 0.00 DHX33 56919 genome.wustl.edu 37 17 5359354 5359354 + Missense_Mutation SNP T T C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 5359354 5359354 T C SNP DHX33 ENST00000225296 human ensembl 70_37 -1 known missense c.998 p.Y333C 0.305 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 56 25 30.49 74 0 0.00 DHX33 56919 genome.wustl.edu 37 17 5359375 5359375 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 5359375 5359375 G A SNP DHX33 ENST00000225296 human ensembl 70_37 -1 known missense c.977 p.P326L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 80 37 31.62 75 0 0.00 DHX34 9704 genome.wustl.edu 37 19 47865903 47865903 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 47865903 47865903 C A SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.1546 p.P516T 1.000 pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 30 4 11.76 34 0 0.00 DHX34 9704 genome.wustl.edu 37 19 47880373 47880373 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 47880373 47880373 G C SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.2616 p.M872I 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 60 10 14.29 77 0 0.00 DHX34 9704 genome.wustl.edu 37 19 47883165 47883165 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 47883165 47883165 G A SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.2905 p.E969K 0.020 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 42 19 31.15 62 0 0.00 DHX35 60625 genome.wustl.edu 37 20 37653956 37653956 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37653956 37653956 G A SNP DHX35 ENST00000252011 human ensembl 70_37 +1 known silent c.1755 p.L585 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 26 26 50.00 45 0 0.00 DHX36 170506 genome.wustl.edu 37 3 154006737 154006737 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 154006737 154006737 C T SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known missense c.1949 p.G650E 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 61 18 22.50 62 0 0.00 DHX36 170506 genome.wustl.edu 37 3 154018864 154018864 + Nonsense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 154018864 154018864 G A SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known nonsense c.1270 p.Q424* 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 65 23 26.14 42 0 0.00 DHX36 170506 genome.wustl.edu 37 3 154024010 154024010 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 154024010 154024010 G T SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known silent c.888 p.L296 0.772 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 69 30 30.30 65 0 0.00 DHX37 57647 genome.wustl.edu 37 12 125432666 125432666 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 125432666 125432666 C T SNP DHX37 ENST00000308736 human ensembl 70_37 -1 known missense c.3352 p.E1118K 0.056 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 47 7 12.96 62 0 0.00 DHX37 57647 genome.wustl.edu 37 12 125438697 125438697 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 125438697 125438697 C A SNP DHX37 ENST00000308736 human ensembl 70_37 -1 known missense c.2514 p.Q838H 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 27 13 32.50 47 0 0.00 DHX38 9785 genome.wustl.edu 37 16 72132678 72132678 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 72132678 72132678 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known nonsense c.751 p.R251* 0.962 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 14 9 39.13 26 0 0.00 DHX38 9785 genome.wustl.edu 37 16 72133176 72133176 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 72133176 72133176 G C SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known missense c.957 p.Q319H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 35 30 46.15 79 0 0.00 DHX38 9785 genome.wustl.edu 37 16 72137934 72137934 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 72137934 72137934 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known silent c.1914 p.L638 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 5 5 50.00 14 0 0.00 DHX38 9785 genome.wustl.edu 37 16 72138925 72138925 + Splice_Site SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 72138925 72138925 G C SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known splice_site c.2152-1 e15-1 1.000 - - - no_errors DHX38 HGNC ENSG00000140829 25 9 26.47 37 0 0.00 DHX38 9785 genome.wustl.edu 37 16 72142801 72142801 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72142801 72142801 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known missense c.3358 p.H1120Y 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 85 28 24.56 166 0 0.00 DHX57 90957 genome.wustl.edu 37 2 39042697 39042697 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 39042697 39042697 C A SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.3572 p.G1191V 1.000 pfam_DUF1605 pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 39 16 29.09 60 0 0.00 DHX57 90957 genome.wustl.edu 37 2 39075446 39075446 + Missense_Mutation SNP T T A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 39075446 39075446 T A SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.2129 p.D710V 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 22 21 48.84 50 0 0.00 DHX57 90957 genome.wustl.edu 37 2 39088417 39088417 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 39088417 39088417 C T SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.1135 p.E379K 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 83 20 19.42 119 0 0.00 DHX57 90957 genome.wustl.edu 37 2 39088645 39088645 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 39088645 39088645 C T SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.907 p.E303K 0.974 pfam_RWD-domain,pfam_Znf_CCCH,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 103 22 17.60 122 1 0.81 DHX58 79132 genome.wustl.edu 37 17 40255628 40255628 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 40255628 40255628 G C SNP DHX58 ENST00000251642 human ensembl 70_37 -1 known missense c.1752 p.F584L 1.000 pfam_RIG-I_C-RD pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 18 9 33.33 63 0 0.00 DHX8 1659 genome.wustl.edu 37 17 41582013 41582013 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41582013 41582013 G A SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known silent c.1548 p.A516 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 87 24 21.62 101 1 0.98 DHX8 1659 genome.wustl.edu 37 17 41584391 41584391 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41584391 41584391 C G SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.1749 p.I583M 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 48 20 29.41 42 0 0.00 DHX8 1659 genome.wustl.edu 37 17 41585216 41585216 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41585216 41585216 T C SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.2149 p.S717P 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 30 12 28.57 48 0 0.00 DHX8 1659 genome.wustl.edu 37 17 41585217 41585217 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41585217 41585217 C T SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.2150 p.S717L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 30 12 28.57 49 0 0.00 DHX8 1659 genome.wustl.edu 37 17 41585300 41585300 + Nonsense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 41585300 41585300 G T SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known nonsense c.2233 p.E745* 1.000 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 34 4 10.53 31 0 0.00 DHX9 1660 genome.wustl.edu 37 1 182812469 182812469 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 182812469 182812469 C A SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.152 p.S51Y 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 16 16 50.00 17 0 0.00 DHX9 1660 genome.wustl.edu 37 1 182827939 182827939 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 182827939 182827939 A C SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.972 p.Q324H 1.000 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 21 29 58.00 58 0 0.00 DHX9 1660 genome.wustl.edu 37 1 182844012 182844012 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 182844012 182844012 C G SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.1738 p.Q580E 1.000 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 89 10 10.00 61 0 0.00 DHX9 1660 genome.wustl.edu 37 1 182845266 182845266 + Missense_Mutation SNP C C A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 1 182845266 182845266 C A SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.1897 p.P633T 1.000 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 46 21 31.34 60 0 0.00 DHX9 1660 genome.wustl.edu 37 1 182845989 182845989 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 182845989 182845989 G A SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.2149 p.E717K 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 30 18 37.50 36 0 0.00 DIAPH1 1729 genome.wustl.edu 37 5 140953564 140953566 + In_Frame_Del DEL GGA GGA - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 140953564 140953566 GGA - DEL DIAPH1 ENST00000253811 human ensembl 70_37 -1 known in_frame_del c.1853_1851 p.P620in_frame_del 0.010:0.008:0.007 pfam_Formin_homology_1 pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC ENSG00000131504 9 3 25.00 16 0 0.00 DIAPH1 1729 genome.wustl.edu 37 5 140963701 140963701 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140963701 140963701 G A SNP DIAPH1 ENST00000253811 human ensembl 70_37 -1 known missense c.392 p.T131I 1.000 pfam_Drf_GTPase-bd pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC ENSG00000131504 33 19 36.54 50 0 0.00 DIAPH2 1730 genome.wustl.edu 37 X 95990784 95990784 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 95990784 95990784 G A SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.160 p.D54N 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 52 28 35.00 52 0 0.00 DIAPH2 1730 genome.wustl.edu 37 X 96171543 96171543 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 96171543 96171543 C T SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.839 p.S280F 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 55 28 33.73 116 0 0.00 DIAPH2 1730 genome.wustl.edu 37 X 96197126 96197126 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 96197126 96197126 C T SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.1435 p.H479Y 1.000 pfam_Drf_FH3 pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 98 19 16.24 87 0 0.00 DIAPH2 1730 genome.wustl.edu 37 X 96200544 96200544 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 96200544 96200544 C T SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.1463 p.A488V 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 32 7 17.95 51 0 0.00 DIAPH2-AS1 10824 genome.wustl.edu 37 X 96783880 96783880 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 96783880 96783880 T C SNP DIAPH2-AS1 ENST00000579945 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DIAPH2-AS1 HGNC ENSG00000236256 18 19 51.35 18 0 0.00 DIAPH3 81624 genome.wustl.edu 37 13 60453398 60453398 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 60453398 60453398 G A SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known nonsense c.2572 p.Q858* 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 60 14 18.92 47 0 0.00 DIAPH3 81624 genome.wustl.edu 37 13 60453485 60453485 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 60453485 60453485 C G SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known missense c.2485 p.E829Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 30 9 23.08 71 0 0.00 DIAPH3 81624 genome.wustl.edu 37 13 60453560 60453560 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 60453560 60453560 G C SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known missense c.2410 p.L804V 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 66 21 24.14 63 0 0.00 DIAPH3 81624 genome.wustl.edu 37 13 60686168 60686168 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 60686168 60686168 G A SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known silent c.366 p.L122 0.986 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 39 11 22.00 45 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95556868 95556868 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 95556868 95556868 G C SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.5736 p.L1912 1.000 smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 38 27 41.54 49 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95570075 95570075 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 95570075 95570075 G A SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known nonsense c.3658 p.Q1220* 1.000 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 93 11 10.58 66 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95574781 95574781 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 95574781 95574781 C T SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.2316 p.V772 1.000 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 17 6 26.09 35 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95574809 95574809 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 95574809 95574809 C T SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known missense c.2288 p.R763K 0.969 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 93 18 16.22 92 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95590580 95590580 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 95590580 95590580 G A SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.1329 p.C443 0.992 pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 22 7 24.14 25 0 0.00 DICER1 23405 genome.wustl.edu 37 14 95596528 95596528 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 95596528 95596528 A G SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known missense c.440 p.V147A 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 12 3 20.00 32 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61510621 61510621 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 61510621 61510621 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known silent c.6687 p.S2229 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 31 20 39.22 65 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61511181 61511181 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 61511181 61511181 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.6127 p.E2043K 0.066 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 50 8 13.79 34 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61512312 61512312 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 61512312 61512312 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4996 p.G1666S 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 25 3 10.71 13 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61512828 61512828 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 61512828 61512828 C G SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4480 p.E1494Q 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 31 9 22.50 29 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61513055 61513055 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 20 61513055 61513055 G T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4253 p.A1418E 0.036 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 16 4 20.00 41 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61525016 61525016 + Splice_Site SNP A A T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 61525016 61525016 A T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known splice_site c.3101+2 e10+2 0.988 - - - no_errors DIDO1 HGNC ENSG00000101191 31 54 63.53 58 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61525382 61525382 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 61525382 61525382 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2737 p.E913K 0.026 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 51 30 37.04 52 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61526236 61526236 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61526236 61526236 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.946 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 96 28 22.58 57 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61527728 61527728 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 20 61527728 61527728 C G SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2071 p.D691H 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 52 29 35.80 144 0 0.00 DIDO1 11083 genome.wustl.edu 37 20 61542823 61542823 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 61542823 61542823 G A SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known silent c.142 p.L48 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 31 7 18.42 28 0 0.00 DIEXF 27042 genome.wustl.edu 37 1 210010194 210010194 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 210010194 210010194 G A SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC ENSG00000117597 31 20 39.22 53 0 0.00 DIEXF 27042 genome.wustl.edu 37 1 210015736 210015736 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 210015736 210015736 C T SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known nonsense c.1612 p.Q538* 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC ENSG00000117597 203 36 15.06 163 0 0.00 DIEXF 27042 genome.wustl.edu 37 1 210016849 210016849 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 210016849 210016849 C A SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known missense c.1835 p.S612Y 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC ENSG00000117597 18 3 14.29 30 0 0.00 DIMT1 27292 genome.wustl.edu 37 5 61688793 61688793 + Missense_Mutation SNP T T G TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 5 61688793 61688793 T G SNP DIMT1 ENST00000199320 human ensembl 70_37 -1 known missense c.688 p.T230P 1.000 pfam_rRNA_Ade_methylase_transferase,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 33 27 45.00 45 0 0.00 DIMT1 27292 genome.wustl.edu 37 5 61694524 61694524 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61694524 61694524 C A SNP DIMT1 ENST00000199320 human ensembl 70_37 -1 known silent c.345 p.L115 0.999 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 12 12 50.00 25 0 0.00 DIMT1 27292 genome.wustl.edu 37 5 61694532 61694532 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61694532 61694532 C T SNP DIMT1 ENST00000199320 human ensembl 70_37 -1 known missense c.337 p.D113N 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 12 13 52.00 27 0 0.00 DIO3OS 64150 genome.wustl.edu 37 14 102018911 102018911 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 102018911 102018911 G T SNP DIO3OS ENST00000553575 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC ENSG00000258498 18 26 59.09 75 0 0.00 DIO3OS 64150 genome.wustl.edu 37 14 102024018 102024018 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 102024018 102024018 G A SNP DIO3OS ENST00000554441 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DIO3OS HGNC ENSG00000258498 45 34 42.50 32 0 0.00 DIO3OS 64150 genome.wustl.edu 37 14 102024333 102024333 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 102024333 102024333 C T SNP DIO3OS ENST00000554735 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DIO3OS HGNC ENSG00000258498 37 10 21.28 21 0 0.00 DIO3OS 64150 genome.wustl.edu 37 14 102026763 102026763 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 102026763 102026763 G A SNP DIO3OS ENST00000557661 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors DIO3OS HGNC ENSG00000258498 6 5 45.45 9 0 0.00 DIP2A 23181 genome.wustl.edu 37 21 47929216 47929216 + Silent SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 47929216 47929216 G C SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known silent c.834 p.L278 0.072 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 159 67 29.65 304 0 0.00 DIP2A 23181 genome.wustl.edu 37 21 47969760 47969760 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47969760 47969760 G T SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known nonsense c.2602 p.E868* 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 27 23 46.00 37 0 0.00 DIP2A 23181 genome.wustl.edu 37 21 47975972 47975972 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 47975972 47975972 G A SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known missense c.3469 p.V1157M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 85 11 11.46 79 0 0.00 DIP2A 23181 genome.wustl.edu 37 21 47987458 47987458 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 47987458 47987458 G A SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known missense c.4642 p.E1548K 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 24 22 46.81 57 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51064986 51064986 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 51064986 51064986 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 31 15 31.91 34 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51065063 51065063 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 51065063 51065063 G C SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.522 p.W174C 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 39 33 45.83 38 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51065095 51065095 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 51065095 51065095 C T SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.554 p.S185F 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 51 14 21.54 61 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51128868 51128868 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51128868 51128868 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known silent c.4056 p.V1352 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 38 27 41.54 52 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51133261 51133261 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 51133261 51133261 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.4246 p.D1416N 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 20 4 16.67 22 0 0.00 DIP2B 57609 genome.wustl.edu 37 12 51138529 51138529 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 12 51138529 51138529 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known silent c.4638 p.P1546 0.734 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 37 10 21.28 47 0 0.00 DIP2C 22982 genome.wustl.edu 37 10 402355 402355 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 402355 402355 C G SNP DIP2C ENST00000540204 human ensembl 70_37 -1 known missense c.959 p.G320A 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors DIP2C HGNC ENSG00000151240 8 17 65.38 21 0 0.00 DIP2C 22982 genome.wustl.edu 37 10 486841 486841 + Nonsense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 486841 486841 G A SNP DIP2C ENST00000280886 human ensembl 70_37 -1 known nonsense c.364 p.Q122* 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 36 4 10.00 40 0 0.00 DIRAS1 148252 genome.wustl.edu 37 19 2717432 2717432 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 2717432 2717432 C T SNP DIRAS1 ENST00000323469 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS1 HGNC ENSG00000176490 41 10 19.61 75 0 0.00 DIRAS3 9077 genome.wustl.edu 37 1 68512353 68512353 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 68512353 68512353 C G SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.628 p.E210Q 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 213 41 16.08 285 0 0.00 DIRAS3 9077 genome.wustl.edu 37 1 68512439 68512439 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 68512439 68512439 G A SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.542 p.S181L 0.998 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 40 23 36.51 84 0 0.00 DIRAS3 9077 genome.wustl.edu 37 1 68512845 68512845 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 68512845 68512845 C T SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.136 p.A46T 0.686 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 27 11 28.95 36 0 0.00 DIRAS3 9077 genome.wustl.edu 37 1 68512899 68512899 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 68512899 68512899 C T SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.82 p.A28T 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 41 5 10.87 40 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122514354 122514354 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 122514354 122514354 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known silent c.315 p.F105 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 109 26 19.26 79 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122545733 122545733 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 122545733 122545733 C G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.524 p.S175C 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 49 6 10.71 31 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122545852 122545852 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 122545852 122545852 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.643 p.L215F 0.814 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 42 51 54.84 70 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122545861 122545861 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 122545861 122545861 G C SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.652 p.E218Q 0.840 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 47 34 41.46 75 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122564695 122564695 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 122564695 122564695 T G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.919 p.L307V 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 37 5 11.90 54 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122591347 122591347 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122591347 122591347 C G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known silent c.1224 p.V408 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 31 9 22.50 35 0 0.00 DIRC2 84925 genome.wustl.edu 37 3 122598136 122598136 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122598136 122598136 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.1348 p.P450S 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 485 99 16.92 521 0 0.00 DIRC3 729582 genome.wustl.edu 37 2 218465283 218465283 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 218465283 218465283 G C SNP DIRC3 ENST00000486365 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DIRC3 HGNC ENSG00000231672 43 6 12.24 34 0 0.00 DIS3 22894 genome.wustl.edu 37 13 73337593 73337593 + Nonsense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 73337593 73337593 G C SNP DIS3 ENST00000377767 human ensembl 70_37 -1 known nonsense c.2123 p.S708* 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 39 9 18.37 57 0 0.00 DIS3 22894 genome.wustl.edu 37 13 73345042 73345042 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 73345042 73345042 C T SNP DIS3 ENST00000377767 human ensembl 70_37 -1 known silent c.1755 p.K585 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 60 16 21.05 54 0 0.00 DIS3L 115752 genome.wustl.edu 37 15 66604206 66604206 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 66604206 66604206 G C SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.703 p.E235Q 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 22 6 21.43 24 0 0.00 DIS3L 115752 genome.wustl.edu 37 15 66612937 66612937 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 66612937 66612937 C T SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.1193 p.S398F 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 47 18 27.69 110 0 0.00 DIS3L 115752 genome.wustl.edu 37 15 66618191 66618191 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 66618191 66618191 G A SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.1690 p.E564K 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 196 56 22.22 276 1 0.36 DIS3L 115752 genome.wustl.edu 37 15 66625346 66625346 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 66625346 66625346 G C SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.2861 p.R954T 0.166 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 15 3 16.67 18 0 0.00 DIS3L2 129563 genome.wustl.edu 37 2 232952241 232952241 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232952241 232952241 T C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known silent c.411 p.Y137 0.552 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC ENSG00000144535 44 7 13.73 51 0 0.00 DIS3L2 129563 genome.wustl.edu 37 2 232952241 232952241 + Silent SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232952241 232952241 T C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known silent c.411 p.Y137 0.552 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC ENSG00000144535 45 11 19.64 31 0 0.00 DIS3L2 129563 genome.wustl.edu 37 2 233201339 233201339 + Nonstop_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 233201339 233201339 G C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known nonstop c.2657 p.*886S 0.001 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC ENSG00000144535 17 9 34.62 26 0 0.00 DISC1 27185 genome.wustl.edu 37 1 231830494 231830494 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231830494 231830494 C T SNP DISC1 ENST00000439617 human ensembl 70_37 +1 known silent c.990 p.L330 0.007 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 118 21 14.89 101 0 0.00 DISC1 27185 genome.wustl.edu 37 1 232094594 232094594 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 232094594 232094594 A G SNP DISC1 ENST00000439617 human ensembl 70_37 +1 known missense c.2002 p.T668A 0.016 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 38 10 20.83 34 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223116265 223116265 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 223116265 223116265 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.100 p.D34N 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 61 13 17.57 26 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223116265 223116265 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 223116265 223116265 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.100 p.D34N 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 68 14 17.07 79 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223116341 223116341 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 223116341 223116341 A G SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.176 p.N59S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 31 33 51.56 48 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223116341 223116341 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 223116341 223116341 A G SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.176 p.N59S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 48 46 48.42 87 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223116463 223116463 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 223116463 223116463 T C SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.298 p.C100R 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 19 5 20.83 17 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223176653 223176653 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 223176653 223176653 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.1914 p.G638 0.865 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 14 9 39.13 28 0 0.00 DISP1 84976 genome.wustl.edu 37 1 223176989 223176989 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 223176989 223176989 C T SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.2250 p.S750 0.003 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 138 77 35.48 184 1 0.54 DISP1 84976 genome.wustl.edu 37 1 223176989 223176989 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 223176989 223176989 C T SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.2250 p.S750 0.003 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 23 16 41.03 30 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40656682 40656682 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 40656682 40656682 C G SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.540 p.I180M 0.034 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 41 17 29.31 68 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40659419 40659419 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 40659419 40659419 G A SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.1106 p.R369Q 0.970 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 89 10 10.10 48 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40659612 40659612 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 40659612 40659612 C G SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known silent c.1299 p.L433 0.998 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 26 10 27.78 35 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40659864 40659864 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 40659864 40659864 G A SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known silent c.1551 p.L517 0.998 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 14 8 36.36 25 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40660758 40660758 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 40660758 40660758 C G SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known silent c.2445 p.L815 0.481 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 44 33 42.86 53 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40660964 40660964 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 40660964 40660964 C T SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.2651 p.P884L 0.683 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 90 34 27.42 42 0 0.00 DISP2 85455 genome.wustl.edu 37 15 40661140 40661140 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 40661140 40661140 C T SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.2827 p.R943C 0.041 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 28 9 24.32 54 0 0.00 DIXDC1 85458 genome.wustl.edu 37 11 111889885 111889885 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111889885 111889885 C G SNP DIXDC1 ENST00000389821 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors DIXDC1 HGNC ENSG00000150764 44 27 38.03 62 0 0.00 DIXDC1 85458 genome.wustl.edu 37 11 111890287 111890287 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111890287 111890287 C G SNP DIXDC1 ENST00000389821 human ensembl 70_37 +1 known rna NULL NULL 0.877 - - - no_errors DIXDC1 HGNC ENSG00000150764 48 17 26.15 45 0 0.00 DKC1 1736 genome.wustl.edu 37 X 154004501 154004501 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 154004501 154004501 C T SNP DKC1 ENST00000369550 human ensembl 70_37 +1 known missense c.1378 p.P460S 0.169 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 132 16 10.74 104 0 0.00 LINC01011 401232 genome.wustl.edu 37 6 2990535 2990535 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 2990535 2990535 C T SNP DKFZP686I15217 ENST00000597787 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors RP1-90J20.7 Clone_based_vega_gene ENSG00000244041 36 4 10.00 23 0 0.00 DKFZp434L192 222029 genome.wustl.edu 37 7 56564622 56564622 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 56564622 56564622 C T SNP DKFZp434L192 ENST00000566570 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-760D2.11 Clone_based_vega_gene ENSG00000261275 17 20 54.05 31 0 0.00 DKK1 22943 genome.wustl.edu 37 10 54076460 54076460 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 54076460 54076460 G T SNP DKK1 ENST00000373970 human ensembl 70_37 +1 known nonsense c.694 p.E232* 1.000 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 27 31 53.45 67 0 0.00 DKK2 27123 genome.wustl.edu 37 4 107956608 107956608 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 107956608 107956608 A G SNP DKK2 ENST00000285311 human ensembl 70_37 -1 novel silent c.141 p.P47 0.519 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 58 8 12.12 36 0 0.00 DKK3 27122 genome.wustl.edu 37 11 11985984 11985984 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 11985984 11985984 C A SNP DKK3 ENST00000527132 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DKK3 HGNC ENSG00000050165 27 5 15.62 42 0 0.00 DKK3 27122 genome.wustl.edu 37 11 11989992 11989992 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 11989992 11989992 G A SNP DKK3 ENST00000326932 human ensembl 70_37 -1 known nonsense c.478 p.Q160* 1.000 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 60 14 18.92 49 0 0.00 DKK4 27121 genome.wustl.edu 37 8 42231857 42231857 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 42231857 42231857 G A SNP DKK4 ENST00000220812 human ensembl 70_37 -1 known silent c.436 p.L146 1.000 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 26 14 35.00 27 0 0.00 DKKL1 27120 genome.wustl.edu 37 19 49869116 49869116 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 49869116 49869116 G A SNP DKKL1 ENST00000221498 human ensembl 70_37 +1 known missense c.391 p.E131K 0.011 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 49 14 22.22 46 0 0.00 DLAT 1737 genome.wustl.edu 37 11 111896985 111896985 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 111896985 111896985 G C SNP DLAT ENST00000280346 human ensembl 70_37 +1 known missense c.343 p.E115Q 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC ENSG00000150768 63 13 16.88 40 0 0.00 DLAT 1737 genome.wustl.edu 37 11 111915924 111915924 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111915924 111915924 C T SNP DLAT ENST00000280346 human ensembl 70_37 +1 known silent c.1260 p.F420 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC ENSG00000150768 43 39 47.56 85 0 0.00 DLAT 1737 genome.wustl.edu 37 11 111916683 111916683 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111916683 111916683 G T SNP DLAT ENST00000280346 human ensembl 70_37 +1 known nonsense c.1387 p.E463* 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC ENSG00000150768 29 8 21.62 65 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12943362 12943362 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 12943362 12943362 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4545 p.F1515 0.997 pfam_START_lipid-bd,smart_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 20 26 56.52 95 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12943867 12943867 + Silent SNP G G T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 8 12943867 12943867 G T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4398 p.S1466 0.997 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 36 25 40.98 54 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12946082 12946082 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 12946082 12946082 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4206 p.I1402 0.458 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 33 7 17.50 32 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12948839 12948839 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 12948839 12948839 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.3843 p.K1281 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 58 23 28.40 62 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12950310 12950310 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 12950310 12950310 T C SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.3551 p.Q1184R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 9 19 67.86 66 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12957629 12957629 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 12957629 12957629 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.2217 p.Q739 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 58 13 18.06 87 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12958088 12958088 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 12958088 12958088 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.1758 p.S586 0.975 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 17 4 19.05 13 0 0.00 DLC1 10395 genome.wustl.edu 37 8 12990539 12990539 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 12990539 12990539 G T SNP DLC1 ENST00000515225 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors DLC1 HGNC ENSG00000164741 30 5 14.29 28 0 0.00 DLC1 10395 genome.wustl.edu 37 8 13162751 13162751 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 13162751 13162751 G A SNP DLC1 ENST00000511869 human ensembl 70_37 -1 novel missense c.1375 p.L459F 0.003 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 57 12 17.39 89 0 0.00 DLC1 10395 genome.wustl.edu 37 8 13356682 13356682 + Nonsense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 13356682 13356682 G C SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.999 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 48 7 12.73 67 0 0.00 DLC1 10395 genome.wustl.edu 37 8 13356877 13356877 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 13356877 13356877 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.704 p.R235Q 0.998 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 22 12 35.29 23 0 0.00 DLC1 10395 genome.wustl.edu 37 8 13357394 13357394 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 13357394 13357394 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.187 p.D63N 0.952 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 84 10 10.53 113 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38080893 38080893 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 38080893 38080893 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.177 p.F59 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 68 48 41.38 87 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38101276 38101276 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 38101276 38101276 G A SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.606 p.R202 0.047 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 57 33 36.67 66 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38103846 38103846 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38103846 38103846 G C SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.860 p.R287T 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 46 15 24.59 46 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38136487 38136487 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38136487 38136487 C A SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.2037 p.F679L 0.999 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 25 7 21.88 35 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38136538 38136538 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38136538 38136538 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.2088 p.F696 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 17 10 37.04 35 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38158718 38158718 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 38158718 38158718 G T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.4325 p.G1442V 0.984 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 17 3 15.00 40 0 0.00 DLEC1 9940 genome.wustl.edu 37 3 38159078 38159078 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38159078 38159078 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.4461 p.L1487 0.998 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 22 12 34.29 51 0 0.00 DLEU2 8847 genome.wustl.edu 37 13 50618817 50618817 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 13 50618817 50618817 C T SNP DLEU2 ENST00000235290 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DLEU2 HGNC ENSG00000231607 40 34 45.95 36 0 0.00 DLEU2 8847 genome.wustl.edu 37 13 50619281 50619281 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 50619281 50619281 G A SNP DLEU2 ENST00000416253 human ensembl 70_37 -1 known rna NULL NULL 0.168 - - - no_errors DLEU2 HGNC ENSG00000231607 29 9 23.68 37 0 0.00 DLEU7 220107 genome.wustl.edu 37 13 51287267 51287267 + RNA SNP C C A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 13 51287267 51287267 C A SNP DLEU7 ENST00000443723 human ensembl 70_37 -1 known rna NULL NULL 0.123 - - - no_errors DLEU7 HGNC ENSG00000186047 28 6 17.65 21 0 0.00 DLG1 1739 genome.wustl.edu 37 3 196796113 196796113 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 196796113 196796113 G T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known missense c.2123 p.A708D 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 30 4 11.76 25 0 0.00 DLG1 1739 genome.wustl.edu 37 3 196807888 196807888 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 196807888 196807888 G A SNP DLG1 ENST00000493937 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors DLG1 HGNC ENSG00000075711 36 6 14.29 29 0 0.00 DLG1 1739 genome.wustl.edu 37 3 196876613 196876613 + Splice_Site SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 196876613 196876613 C T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known splice_site c.636+1 e6+1 1.000 - - - no_errors DLG1 HGNC ENSG00000075711 40 105 71.92 73 0 0.00 DLG1 1739 genome.wustl.edu 37 3 196910630 196910630 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 196910630 196910630 C T SNP DLG1 ENST00000443183 human ensembl 70_37 -1 putative missense c.50 p.R17Q 1.000 pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 199 42 17.43 63 0 0.00 DLG1 1739 genome.wustl.edu 37 3 197023292 197023292 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197023292 197023292 C T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 pfam_L27_1,smart_L27,pirsf_M-assoc_guanylate_kinase,pfscan_L27 pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 52 6 10.34 66 0 0.00 DLG2 1740 genome.wustl.edu 37 11 83252886 83252886 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 83252886 83252886 G T SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known nonsense c.1956 p.Y652* 0.998 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 30 4 11.76 49 0 0.00 DLG2 1740 genome.wustl.edu 37 11 83874521 83874521 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 83874521 83874521 C A SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known nonsense c.607 p.E203* 1.000 pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 12 5 29.41 25 0 0.00 DLG2 1740 genome.wustl.edu 37 11 83877955 83877956 + RNA INS - - T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 83877955 83877956 - T INS DLG2 ENST00000524941 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DLG2 HGNC ENSG00000150672 95 14 12.84 56 0 0.00 DLG2 1740 genome.wustl.edu 37 11 83877982 83877982 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 83877982 83877982 C T SNP DLG2 ENST00000524941 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 60 9 13.04 77 0 0.00 DLG2 1740 genome.wustl.edu 37 11 84996344 84996344 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 84996344 84996344 C T SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 65 10 13.33 69 0 0.00 DLG3 1741 genome.wustl.edu 37 X 69670051 69670051 + Missense_Mutation SNP A A C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 69670051 69670051 A C SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known missense c.790 p.N264H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000082458 50 13 20.63 54 0 0.00 DLG3 1741 genome.wustl.edu 37 X 69670155 69670155 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 69670155 69670155 G A SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known silent c.894 p.A298 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000082458 110 13 10.57 117 0 0.00 DLG3 1741 genome.wustl.edu 37 X 69699014 69699014 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 69699014 69699014 G C SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known missense c.1474 p.E492Q 1.000 superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000082458 81 39 32.50 93 0 0.00 DLG4 1742 genome.wustl.edu 37 17 7097021 7097021 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7097021 7097021 G C SNP DLG4 ENST00000293813 human ensembl 70_37 -1 known missense c.1685 p.S562W 0.981 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG4 HGNC ENSG00000132535 10 6 37.50 17 0 0.00 DLG4 1742 genome.wustl.edu 37 17 7099654 7099654 + Splice_Site SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 7099654 7099654 C G SNP DLG4 ENST00000293813 human ensembl 70_37 -1 known splice_site c.1316-1 e13-1 1.000 - - - no_errors DLG4 HGNC ENSG00000132535 37 37 50.00 86 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79552246 79552246 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 79552246 79552246 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.5712 p.V1904 0.985 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 25 4 13.79 37 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79553837 79553837 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 79553837 79553837 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.5585 p.T1862I 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 22 5 18.52 31 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79569395 79569395 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 79569395 79569395 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.4557 p.G1519 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 19 14 42.42 47 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79569484 79569484 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 79569484 79569484 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.4468 p.A1490P 0.022 superfamily_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 23 5 17.86 33 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79572015 79572015 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 79572015 79572015 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.4146 p.I1382 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 21 13 38.24 46 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79593787 79593787 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 79593787 79593787 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.1633 p.D545H 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 33 19 36.54 51 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79601670 79601670 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 10 79601670 79601670 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.1406 p.A469V 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 64 9 12.33 69 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79601771 79601771 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 79601771 79601771 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.1305 p.I435 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 39 28 41.18 97 0 0.00 DLG5 9231 genome.wustl.edu 37 10 79613995 79613995 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 79613995 79613995 C T SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.670 p.D224N 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 17 37 68.52 75 0 0.00 DLGAP1 9229 genome.wustl.edu 37 18 3508607 3508607 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 3508607 3508607 C T SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known silent c.2532 p.Q844 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 49 14 22.22 33 0 0.00 DLGAP1 9229 genome.wustl.edu 37 18 3534369 3534369 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 3534369 3534369 G T SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known missense c.2302 p.P768T 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 37 14 27.45 82 0 0.00 DLGAP1 9229 genome.wustl.edu 37 18 3729211 3729211 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 3729211 3729211 G A SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known silent c.1515 p.D505 0.996 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 8 8 50.00 26 0 0.00 DLGAP1 9229 genome.wustl.edu 37 18 3879204 3879204 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 3879204 3879204 G A SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known missense c.865 p.R289W 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 32 22 40.74 28 0 0.00 DLGAP1-AS4 101410534 genome.wustl.edu 37 18 3993182 3993182 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 3993182 3993182 G T SNP DLGAP1-AS4 ENST00000582054 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DLGAP1-AS4 HGNC ENSG00000263878 34 4 10.26 32 0 0.00 DLGAP1-AS5 284215 genome.wustl.edu 37 18 4264667 4264667 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 4264667 4264667 G A SNP DLGAP1-AS5 ENST00000565759 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DLGAP1-AS5 HGNC ENSG00000261520 25 42 62.69 35 0 0.00 DLGAP2 9228 genome.wustl.edu 37 8 1616650 1616650 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 1616650 1616650 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1726 p.D576H 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 27 17 38.64 53 0 0.00 DLGAP2 9228 genome.wustl.edu 37 8 1616746 1616746 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 1616746 1616746 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1822 p.E608Q 0.477 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 44 14 24.14 68 0 0.00 DLGAP2 9228 genome.wustl.edu 37 8 1617924 1617924 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 1617924 1617924 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1936 p.E646Q 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 30 22 41.51 27 0 0.00 DLGAP3 58512 genome.wustl.edu 37 1 35365805 35365805 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 35365805 35365805 G A SNP DLGAP3 ENST00000235180 human ensembl 70_37 -1 known missense c.1177 p.R393W 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 80 37 31.62 155 0 0.00 DLGAP3 58512 genome.wustl.edu 37 1 35365814 35365814 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 35365814 35365814 G A SNP DLGAP3 ENST00000235180 human ensembl 70_37 -1 known missense c.1168 p.R390C 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 67 33 33.00 64 0 0.00 DLGAP3 58512 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 70_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 8 3 27.27 13 0 0.00 DLGAP3 58512 genome.wustl.edu 37 1 35370768 35370768 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 35370768 35370768 G A SNP DLGAP3 ENST00000235180 human ensembl 70_37 -1 known missense c.217 p.P73S 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 30 13 30.23 32 0 0.00 DLGAP3 58512 genome.wustl.edu 37 1 35372982 35372982 + RNA SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 35372982 35372982 C G SNP DLGAP3 ENST00000495979 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DLGAP3 HGNC ENSG00000116544 57 9 13.64 45 0 0.00 DLGAP4 22839 genome.wustl.edu 37 20 35060247 35060247 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 35060247 35060247 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.127 p.E43K 0.999 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 88 30 25.42 109 0 0.00 DLGAP4 22839 genome.wustl.edu 37 20 35128773 35128773 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35128773 35128773 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known silent c.2271 p.Q757 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 42 10 19.23 33 0 0.00 DLGAP4 22839 genome.wustl.edu 37 20 35129008 35129008 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35129008 35129008 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.2506 p.E836K 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 7 3 30.00 11 0 0.00 DLGAP4 22839 genome.wustl.edu 37 20 35155325 35155325 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 35155325 35155325 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.2870 p.R957H 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 35 4 10.26 45 0 0.00 DLGAP5 9787 genome.wustl.edu 37 14 55643784 55643784 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 55643784 55643784 C T SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known missense c.1045 p.E349K 0.163 pfam_GKAP pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 25 7 21.88 36 0 0.00 DLGAP5 9787 genome.wustl.edu 37 14 55650367 55650367 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 55650367 55650367 G A SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known nonsense c.343 p.R115* 0.141 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 43 25 36.76 79 0 0.00 DLGAP5 9787 genome.wustl.edu 37 14 55650384 55650384 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 55650384 55650384 T C SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known missense c.326 p.Q109R 1.000 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 59 26 30.59 101 1 0.98 DLK1 8788 genome.wustl.edu 37 14 101200864 101200864 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101200864 101200864 C G SNP DLK1 ENST00000341267 human ensembl 70_37 +1 known silent c.783 p.G261 0.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 40 34 45.95 46 0 0.00 DLL1 28514 genome.wustl.edu 37 6 170593005 170593005 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 170593005 170593005 G A SNP DLL1 ENST00000366756 human ensembl 70_37 -1 known silent c.1362 p.N454 0.821 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 16 9 36.00 12 0 0.00 DLL1 28514 genome.wustl.edu 37 6 170594675 170594675 + Missense_Mutation SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 6 170594675 170594675 C G SNP DLL1 ENST00000366756 human ensembl 70_37 -1 known missense c.844 p.G282R 1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 28 18 39.13 93 0 0.00 DLL3 10683 genome.wustl.edu 37 19 39994804 39994804 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39994804 39994804 C T SNP DLL3 ENST00000205143 human ensembl 70_37 +1 known missense c.746 p.T249M 0.701 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 48 6 11.11 24 0 0.00 DLL4 54567 genome.wustl.edu 37 15 41222245 41222245 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41222245 41222245 C T SNP DLL4 ENST00000249749 human ensembl 70_37 +1 known silent c.267 p.F89 1.000 pfam_Notch_ligand_N,superfamily_Growth_fac_rcpt pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 12 15 55.56 11 0 0.00 DLST 1743 genome.wustl.edu 37 14 75348641 75348641 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 75348641 75348641 C T SNP DLST ENST00000555190 human ensembl 70_37 +1 known rna NULL NULL 0.936 - - - no_errors DLST HGNC ENSG00000119689 74 29 27.88 85 0 0.00 DLX2 1746 genome.wustl.edu 37 2 172965437 172965437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172965437 172965437 G C SNP DLX2 ENST00000234198 human ensembl 70_37 -1 known missense c.821 p.S274W 0.999 NULL pfam_Homeodomain,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 20 11 35.48 16 0 0.00 DLX3 1747 genome.wustl.edu 37 17 48072207 48072207 + Silent SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 48072207 48072207 C A SNP DLX3 ENST00000434704 human ensembl 70_37 -1 known silent c.156 p.S52 0.997 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 61 11 15.28 99 0 0.00 DLX4 1748 genome.wustl.edu 37 17 48050454 48050454 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48050454 48050454 C T SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known silent c.301 p.L101 0.343 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC ENSG00000108813 53 6 10.17 51 0 0.00 DLX4 1748 genome.wustl.edu 37 17 48051276 48051276 + Nonsense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 48051276 48051276 C G SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known nonsense c.692 p.S231* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC ENSG00000108813 34 7 17.07 50 0 0.00 DLX4 1748 genome.wustl.edu 37 17 48051296 48051296 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 48051296 48051296 C T SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known nonsense c.712 p.Q238* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC ENSG00000108813 45 28 38.36 37 0 0.00 DLX6 1750 genome.wustl.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 96635420 96635421 - GCC INS DLX6 ENST00000518156 human ensembl 70_37 +1 known in_frame_ins c.131_132 p.48in_frame_insP 0.990:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 20 4 16.67 48 0 0.00 DMAP1 55929 genome.wustl.edu 37 1 44684814 44684814 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 44684814 44684814 G C SNP DMAP1 ENST00000315913 human ensembl 70_37 +1 known missense c.807 p.Q269H 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 53 27 33.75 98 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124336050 124336050 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 124336050 124336050 G T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.419 p.C140F 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 152 94 38.21 179 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124345695 124345695 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 124345695 124345695 G T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.1579 p.D527Y 0.998 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 128 212 62.35 384 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124348535 124348535 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 124348535 124348535 G A SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.1859 p.R620Q 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 97 57 37.01 193 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124348625 124348625 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 124348625 124348625 C A SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known nonsense c.1949 p.S650* 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 262 58 18.07 328 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124348773 124348773 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 124348773 124348773 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.2097 p.V699 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 79 27 25.47 103 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124377810 124377810 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 124377810 124377810 C G SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.5169 p.L1723 0.002 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 43 6 12.24 30 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124390648 124390648 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 124390648 124390648 G C SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.6197 p.G2066A 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 56 23 28.75 60 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124390767 124390767 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 124390767 124390767 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.6316 p.H2106Y 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 31 26 45.61 65 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124399643 124399643 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 124399643 124399643 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.7030 p.H2344Y 0.001 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 22 8 26.67 44 0 0.00 DMBT1 1755 genome.wustl.edu 37 10 124402737 124402737 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 124402737 124402737 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.7452 p.S2484 0.006 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 75 18 19.35 66 0 0.00 DMC1 11144 genome.wustl.edu 37 22 38951397 38951397 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38951397 38951397 C T SNP DMC1 ENST00000216024 human ensembl 70_37 -1 known missense c.344 p.G115E 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 41 15 26.79 33 0 0.00 DMC1 11144 genome.wustl.edu 37 22 38966095 38966095 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 22 38966095 38966095 C T SNP DMC1 ENST00000464842 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DMC1 HGNC ENSG00000100206 26 27 50.94 24 0 0.00 DMD 1756 genome.wustl.edu 37 X 31190490 31190490 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 31190490 31190490 C G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.10369 p.D3457H 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 36 10 21.74 49 0 0.00 DMD 1756 genome.wustl.edu 37 X 31196837 31196837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31196837 31196837 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.10172 p.R3391Q 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 44 25 36.23 101 0 0.00 DMD 1756 genome.wustl.edu 37 X 31462737 31462737 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 31462737 31462737 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8945 p.R2982Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 64 9 12.33 51 0 0.00 DMD 1756 genome.wustl.edu 37 X 31496411 31496411 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31496411 31496411 T G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8749 p.K2917Q 0.839 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 18 9 33.33 47 0 0.00 DMD 1756 genome.wustl.edu 37 X 31525526 31525526 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 31525526 31525526 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8262 p.N2754K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 25 10 28.57 42 0 0.00 DMD 1756 genome.wustl.edu 37 X 31645828 31645828 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 31645828 31645828 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8179 p.D2727N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 6 3 33.33 20 0 0.00 DMD 1756 genome.wustl.edu 37 X 31747811 31747811 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 31747811 31747811 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.7597 p.A2533T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 57 23 28.75 102 1 0.97 DMD 1756 genome.wustl.edu 37 X 31893427 31893427 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 31893427 31893427 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.6976 p.L2326F 0.926 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 43 17 28.33 49 0 0.00 DMD 1756 genome.wustl.edu 37 X 31950329 31950329 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31950329 31950329 C A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.6630 p.K2210N 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 14 5 26.32 26 0 0.00 DMD 1756 genome.wustl.edu 37 X 32360321 32360321 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 32360321 32360321 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5818 p.G1940R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 85 29 25.44 43 0 0.00 DMD 1756 genome.wustl.edu 37 X 32360327 32360327 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 32360327 32360327 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5812 p.E1938K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 33 13 28.26 51 0 0.00 DMD 1756 genome.wustl.edu 37 X 32380950 32380950 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 32380950 32380950 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known silent c.5280 p.L1760 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 53 26 32.91 87 0 0.00 DMD 1756 genome.wustl.edu 37 X 32382743 32382743 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 32382743 32382743 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5110 p.E1704K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 24 3 11.11 38 0 0.00 DMD 1756 genome.wustl.edu 37 X 32383310 32383310 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 32383310 32383310 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.4852 p.Q1618* 0.981 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 90 13 12.62 90 0 0.00 DMD 1756 genome.wustl.edu 37 X 32398677 32398677 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 32398677 32398677 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.4795 p.A1599T 0.953 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 28 19 40.43 81 0 0.00 DMD 1756 genome.wustl.edu 37 X 32408240 32408240 + Missense_Mutation SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 32408240 32408240 T G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.4292 p.N1431T 0.966 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 17 8 32.00 40 0 0.00 DMD 1756 genome.wustl.edu 37 X 32459402 32459402 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 32459402 32459402 C A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.3816 p.L1272F 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 59 20 25.32 88 0 0.00 DMD 1756 genome.wustl.edu 37 X 32486617 32486617 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 32486617 32486617 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.3160 p.Q1054* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 27 4 12.90 30 0 0.00 DMD 1756 genome.wustl.edu 37 X 32509432 32509432 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 32509432 32509432 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.2584 p.E862K 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 171 53 23.66 213 0 0.00 DMD 1756 genome.wustl.edu 37 X 32563427 32563427 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 32563427 32563427 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.2017 p.Q673E 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 55 18 24.66 173 0 0.00 DMD 1756 genome.wustl.edu 37 X 32591732 32591732 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 32591732 32591732 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.1727 p.S576L 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 162 48 22.86 173 0 0.00 DMD 1756 genome.wustl.edu 37 X 32632545 32632545 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 32632545 32632545 G T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.1357 p.Q453K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 14 3 17.65 44 0 0.00 DMD 1756 genome.wustl.edu 37 X 32717261 32717261 + Nonsense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 32717261 32717261 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.799 p.Q267* 0.103 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 151 51 25.12 48 0 0.00 DMD 1756 genome.wustl.edu 37 X 33229516 33229516 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 33229516 33229516 G C SNP DMD ENST00000463609 human ensembl 70_37 -1 known rna NULL NULL 0.707 - - - no_errors DMD HGNC ENSG00000198947 34 11 24.44 33 0 0.00 DMD 1756 genome.wustl.edu 37 X 33357379 33357379 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 33357379 33357379 C T SNP DMD ENST00000288447 human ensembl 70_37 -1 putative missense c.4 p.E2K 1.000 superfamily_CH-domain pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors DMD HGNC ENSG00000198947 33 14 29.79 51 0 0.00 DMGDH 29958 genome.wustl.edu 37 5 78351647 78351647 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 78351647 78351647 C T SNP DMGDH ENST00000255189 human ensembl 70_37 -1 known missense c.361 p.E121K 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 84 15 15.15 68 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35989789 35989789 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 35989789 35989789 G A SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.1370 p.S457L 0.001 NULL NULL - no_errors DMKN HGNC ENSG00000161249 24 18 42.86 42 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35990937 35990937 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35990937 35990937 G A SNP DMKN ENST00000469960 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DMKN HGNC ENSG00000161249 71 13 15.48 96 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35991428 35991428 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 35991428 35991428 G A SNP DMKN ENST00000482321 human ensembl 70_37 -1 novel missense c.382 p.L128F 0.023 NULL NULL - no_errors DMKN HGNC ENSG00000161249 37 35 48.61 67 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35992775 35992775 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 35992775 35992775 G C SNP DMKN ENST00000408915 human ensembl 70_37 -1 known missense c.31 p.L11V 0.958 NULL NULL - no_errors DMKN HGNC ENSG00000161249 41 24 36.92 64 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35996882 35996882 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 35996882 35996882 C T SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.1045 p.E349K 0.010 NULL NULL - no_errors DMKN HGNC ENSG00000161249 50 13 20.63 48 0 0.00 DMKN 93099 genome.wustl.edu 37 19 35997050 35997050 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 35997050 35997050 G A SNP DMKN ENST00000419602 human ensembl 70_37 -1 known missense c.983 p.A328V 0.000 NULL NULL - no_errors DMKN HGNC ENSG00000161249 42 34 44.74 49 0 0.00 DMKN 93099 genome.wustl.edu 37 19 36004044 36004044 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 36004044 36004044 C G SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.334 p.E112Q 0.709 NULL NULL - no_errors DMKN HGNC ENSG00000161249 22 20 46.51 46 0 0.00 DMP1 1758 genome.wustl.edu 37 4 88584240 88584240 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 88584240 88584240 G T SNP DMP1 ENST00000339673 human ensembl 70_37 +1 known missense c.1310 p.S437I 0.761 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 36 4 10.00 19 0 0.00 DMPK 1760 genome.wustl.edu 37 19 46280784 46280784 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 46280784 46280784 C T SNP DMPK ENST00000343373 human ensembl 70_37 -1 known missense c.977 p.R326Q 0.083 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC ENSG00000104936 50 8 13.79 48 0 0.00 DMPK 1760 genome.wustl.edu 37 19 46285499 46285499 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 46285499 46285499 C T SNP DMPK ENST00000291270 human ensembl 70_37 -1 known missense c.112 p.A38T 0.020 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC ENSG00000104936 15 6 28.57 12 0 0.00 DMPK 1760 genome.wustl.edu 37 19 46285499 46285499 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46285499 46285499 C T SNP DMPK ENST00000291270 human ensembl 70_37 -1 known missense c.112 p.A38T 0.020 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC ENSG00000104936 4 3 42.86 20 0 0.00 DMRT1 1761 genome.wustl.edu 37 9 894052 894052 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 894052 894052 A T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known missense c.679 p.N227Y 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 59 7 10.61 33 0 0.00 DMRT1 1761 genome.wustl.edu 37 9 916849 916849 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 916849 916849 C T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known silent c.909 p.S303 0.066 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 50 17 25.37 34 0 0.00 DMRT1 1761 genome.wustl.edu 37 9 968024 968024 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 968024 968024 C T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known missense c.1007 p.S336F 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 43 10 18.87 59 0 0.00 DMRT2 10655 genome.wustl.edu 37 9 1053808 1053808 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 1053808 1053808 C G SNP DMRT2 ENST00000302441 human ensembl 70_37 +1 known silent c.612 p.A204 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 46 14 23.33 58 0 0.00 DMRT3 58524 genome.wustl.edu 37 9 990438 990438 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 990438 990438 C T SNP DMRT3 ENST00000190165 human ensembl 70_37 +1 known silent c.852 p.V284 0.999 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 37 26 41.27 76 0 0.00 DMRT3 58524 genome.wustl.edu 37 9 990870 990870 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 9 990870 990870 C T SNP DMRT3 ENST00000190165 human ensembl 70_37 +1 known silent c.1284 p.R428 0.004 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 26 5 16.13 74 0 0.00 DMRTC2 63946 genome.wustl.edu 37 19 42351527 42351527 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 42351527 42351527 C T SNP DMRTC2 ENST00000269945 human ensembl 70_37 +1 known missense c.31 p.H11Y 0.975 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 38 14 26.92 57 0 0.00 DMRTC2 63946 genome.wustl.edu 37 19 42351694 42351694 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 42351694 42351694 C T SNP DMRTC2 ENST00000269945 human ensembl 70_37 +1 known silent c.198 p.C66 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 46 20 30.30 58 0 0.00 DMWD 1762 genome.wustl.edu 37 19 46289752 46289752 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46289752 46289752 C G SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.1002 p.W334C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 25 12 32.43 31 0 0.00 DMWD 1762 genome.wustl.edu 37 19 46289788 46289788 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 46289788 46289788 C T SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.966 p.M322I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 38 12 24.00 83 0 0.00 DMWD 1762 genome.wustl.edu 37 19 46289821 46289821 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46289821 46289821 G A SNP DMWD ENST00000270223 human ensembl 70_37 -1 known silent c.933 p.F311 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 49 8 14.04 37 0 0.00 DMWD 1762 genome.wustl.edu 37 19 46290067 46290067 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46290067 46290067 G C SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.687 p.F229L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 87 12 11.88 66 0 0.00 DMXL1 1657 genome.wustl.edu 37 5 118433713 118433713 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 118433713 118433713 G A SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.127 p.D43N 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 18 6 25.00 45 0 0.00 DMXL1 1657 genome.wustl.edu 37 5 118483070 118483070 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 118483070 118483070 G T SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.2816 p.S939I 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 21 3 12.50 54 0 0.00 DMXL1 1657 genome.wustl.edu 37 5 118506868 118506868 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 118506868 118506868 T C SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.6382 p.S2128P 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 11 6 35.29 24 0 0.00 DMXL1 1657 genome.wustl.edu 37 5 118560455 118560455 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 118560455 118560455 C G SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.8329 p.L2777V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 58 11 15.94 41 0 0.00 DMXL1 1657 genome.wustl.edu 37 5 118584139 118584139 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 118584139 118584139 G C SNP DMXL1 ENST00000505312 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors DMXL1 HGNC ENSG00000172869 47 27 36.49 89 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51748511 51748511 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 51748511 51748511 T C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.8330 p.Q2777R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 14 7 33.33 24 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51748512 51748512 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 51748512 51748512 G C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.8329 p.Q2777E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 18 7 28.00 26 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51755661 51755661 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 51755661 51755661 C T SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.7841 p.R2614Q 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 104 40 27.78 190 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51768825 51768825 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 51768825 51768825 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6925 p.E2309Q 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 156 49 23.90 204 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51768828 51768828 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 51768828 51768828 C T SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6922 p.E2308K 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 16 7 30.43 29 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51773272 51773272 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 51773272 51773272 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6031 p.D2011H 0.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 26 39 60.00 108 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51778394 51778394 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 51778394 51778394 G A SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known silent c.5358 p.F1786 0.959 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 57 15 20.83 65 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51790822 51790822 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 51790822 51790822 G A SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known silent c.4599 p.F1533 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 16 43 72.88 65 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51828558 51828558 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 51828558 51828558 G C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.2119 p.L707V 0.986 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 27 9 25.00 59 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51857317 51857317 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 51857317 51857317 G A SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.332 p.S111F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 127 25 16.45 148 0 0.00 DMXL2 23312 genome.wustl.edu 37 15 51868299 51868299 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 51868299 51868299 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.167 p.G56A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 27 3 10.00 17 0 0.00 DNA2 1763 genome.wustl.edu 37 10 70204733 70204733 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 70204733 70204733 C T SNP DNA2 ENST00000399180 human ensembl 70_37 -1 known missense c.1423 p.E475K 1.000 NULL pfam_DNA_replication_fac_Dna2_N - no_errors DNA2 HGNC ENSG00000138346 24 5 17.24 21 0 0.00 DNA2 1763 genome.wustl.edu 37 10 70209937 70209937 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 70209937 70209937 C A SNP DNA2 ENST00000399180 human ensembl 70_37 -1 known nonsense c.1045 p.E349* 1.000 pfam_DNA_replication_fac_Dna2_N pfam_DNA_replication_fac_Dna2_N - no_errors DNA2 HGNC ENSG00000138346 36 17 31.48 78 0 0.00 DNA2 1763 genome.wustl.edu 37 10 70225560 70225560 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 70225560 70225560 G C SNP DNA2 ENST00000399180 human ensembl 70_37 -1 known missense c.709 p.P237A 0.018 pfam_DNA_replication_fac_Dna2_N pfam_DNA_replication_fac_Dna2_N - no_errors DNA2 HGNC ENSG00000138346 47 26 35.62 33 0 0.00 DNAAF1 123872 genome.wustl.edu 37 16 84199549 84199549 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 84199549 84199549 G C SNP DNAAF1 ENST00000378553 human ensembl 70_37 +1 known missense c.1024 p.E342Q 0.704 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 21 9 30.00 37 0 0.00 DNAAF1 123872 genome.wustl.edu 37 16 84203864 84203864 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 84203864 84203864 C T SNP DNAAF1 ENST00000378553 human ensembl 70_37 +1 known missense c.1430 p.P477L 0.007 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 73 25 25.25 106 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50094756 50094756 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 50094756 50094756 C G SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1981 p.D661H 1.000 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 48 11 18.64 51 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50094828 50094828 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 50094828 50094828 C G SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.872 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 35 10 22.22 42 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50100096 50100096 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50100096 50100096 G A SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1772 p.S591L 0.246 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 60 29 32.22 64 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50100351 50100351 + Nonsense_Mutation SNP G G T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 14 50100351 50100351 G T SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known nonsense c.1517 p.S506* 0.000 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 28 11 27.50 33 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50101007 50101007 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 50101007 50101007 G A SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known silent c.861 p.I287 1.000 pfam_PIH pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 5 6 54.55 32 0 0.00 DNAAF2 55172 genome.wustl.edu 37 14 50101845 50101845 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 50101845 50101845 G A SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.23 p.S8L 0.891 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 25 10 28.57 51 0 0.00 DNAAF3 352909 genome.wustl.edu 37 19 55672075 55672075 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55672075 55672075 C G SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known silent c.1185 p.A395 0.015 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 50 29 36.71 60 0 0.00 DNAAF3 352909 genome.wustl.edu 37 19 55672141 55672141 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 55672141 55672141 C T SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known silent c.1119 p.T373 0.002 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 41 17 29.31 87 0 0.00 DNAAF3 352909 genome.wustl.edu 37 19 55677347 55677347 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 55677347 55677347 G A SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known missense c.311 p.S104F 0.000 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 32 7 17.95 49 0 0.00 DNAAF3 352909 genome.wustl.edu 37 19 55677762 55677762 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 55677762 55677762 G C SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known missense c.161 p.S54C 0.582 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 56 8 12.50 99 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52384120 52384120 + Missense_Mutation SNP T T C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 52384120 52384120 T C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.2642 p.L881P 0.919 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 25 4 13.79 50 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52384529 52384529 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52384529 52384529 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.2652 p.R884 0.989 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 54 31 36.47 93 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52387228 52387228 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52387228 52387228 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.3137 p.S1046C 0.911 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 50 22 30.56 42 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52391686 52391686 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 52391686 52391686 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.3915 p.K1305N 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 33 4 10.81 87 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52396472 52396472 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52396472 52396472 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5049 p.M1683I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 38 21 35.59 52 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52396480 52396480 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52396480 52396480 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5057 p.G1686A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 38 16 29.63 48 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52397041 52397041 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 52397041 52397041 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5125 p.P1709A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 44 22 32.84 58 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52397151 52397151 + Silent SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 52397151 52397151 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.5235 p.L1745 0.970 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 65 44 40.37 77 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52398683 52398683 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52398683 52398683 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.5274 p.V1758 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 13 9 40.91 18 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52398849 52398849 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52398849 52398849 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5332 p.E1778K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 26 8 23.53 27 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52402868 52402868 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52402868 52402868 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5877 p.M1959I 1.000 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 49 30 37.97 65 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52404213 52404213 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52404213 52404213 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6226 p.D2076Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 41 22 34.92 59 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52404241 52404241 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52404241 52404241 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6254 p.R2085T 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 33 18 35.29 51 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52404646 52404646 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 52404646 52404646 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6412 p.E2138K 0.241 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 24 19 44.19 30 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52412643 52412643 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 52412643 52412643 C T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.7224 p.F2408 0.004 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 19 13 40.62 50 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52413996 52413996 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 52413996 52413996 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.7453 p.D2485N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 11 15 57.69 44 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52417483 52417483 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 52417483 52417483 C T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known nonsense c.8023 p.Q2675* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 26 4 13.33 82 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52417975 52417975 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52417975 52417975 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.8250 p.L2750 0.943 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 27 6 18.18 36 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52423564 52423564 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 52423564 52423564 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.9583 p.G3195R 0.691 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 38 26 40.62 46 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52432098 52432098 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52432098 52432098 C T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.12009 p.I4003 0.190 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 60 21 25.93 84 0 0.00 DNAH1 25981 genome.wustl.edu 37 3 52433158 52433158 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 52433158 52433158 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.12382 p.L4128V 0.495 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 33 7 17.50 71 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124256189 124256189 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 124256189 124256189 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.157 p.L53 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 37 11 22.92 25 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124265759 124265759 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 124265759 124265759 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.571 p.H191D 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 17 11 39.29 11 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124267767 124267767 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124267767 124267767 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.772 p.Q258* 0.986 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 42 5 10.64 49 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124270380 124270380 + Nonsense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 124270380 124270380 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.1135 p.R379* 0.125 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 129 24 15.69 191 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124270380 124270380 + Nonsense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 124270380 124270380 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.1135 p.R379* 0.125 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 37 8 17.78 17 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124272480 124272480 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 124272480 124272480 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.1368 p.D456 0.146 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 55 17 23.29 41 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124330576 124330576 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124330576 124330576 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5335 p.E1779K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 48 21 30.43 71 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124333419 124333419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 124333419 124333419 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5738 p.T1913N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 18 5 21.74 25 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124333419 124333419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 124333419 124333419 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5738 p.T1913N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 28 14 33.33 38 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124345682 124345682 + Missense_Mutation SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 124345682 124345682 G T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.6519 p.R2173S 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 40 5 11.11 47 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124358220 124358220 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 124358220 124358220 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.7547 p.R2516H 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 42 28 40.00 92 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124359784 124359784 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 124359784 124359784 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.7591 p.E2531K 0.999 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 13 10 43.48 31 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124363859 124363859 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124363859 124363859 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.8067 p.L2689 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 31 19 38.00 34 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124371818 124371818 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 124371818 124371818 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.8599 p.E2867K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 49 12 19.67 42 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124382351 124382351 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124382351 124382351 A G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.8961 p.E2987 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 15 4 21.05 32 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124393810 124393810 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 124393810 124393810 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.9464 p.S3155L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 50 51 50.50 78 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124402287 124402287 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 124402287 124402287 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.10805 p.T3602K 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 17 22 56.41 44 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124413920 124413920 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 124413920 124413920 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.12051 p.F4017L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 37 17 31.48 74 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124416304 124416304 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124416304 124416304 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.12684 p.L4228 0.993 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 42 29 40.85 42 0 0.00 DNAH10 196385 genome.wustl.edu 37 12 124416389 124416389 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124416389 124416389 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.12769 p.Q4257E 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 35 27 43.55 61 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21603847 21603847 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 21603847 21603847 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.1026 p.L342 0.971 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 95 44 31.65 111 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21604003 21604003 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 21604003 21604003 C G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.1182 p.L394 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 7 6 46.15 33 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21639564 21639564 + Missense_Mutation SNP T T C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 7 21639564 21639564 T C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.2827 p.F943L 0.826 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 18 10 35.71 35 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21639599 21639599 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 21639599 21639599 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.2862 p.E954 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 20 8 28.57 25 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21646158 21646158 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 21646158 21646158 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.3763 p.D1255H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 40 33 45.21 75 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21675628 21675628 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21675628 21675628 A G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.4655 p.E1552G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 15 12 44.44 39 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21677310 21677310 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21677310 21677310 T G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.4822 p.L1608V 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 12 8 40.00 42 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21726796 21726796 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 21726796 21726796 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.5722 p.E1908Q 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 40 31 43.66 52 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21742379 21742379 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 7 21742379 21742379 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.6253 p.G2085R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 44 29 39.73 59 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21744077 21744077 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 21744077 21744077 T G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.6320 p.F2107C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 34 15 30.61 79 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21789930 21789930 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 21789930 21789930 C A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.8909 p.S2970Y 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 6 7 53.85 14 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21805130 21805130 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 21805130 21805130 G T SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.9046 p.D3016Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 89 18 16.82 71 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21826259 21826259 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 21826259 21826259 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.9636 p.L3212 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 109 48 30.57 140 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21827105 21827105 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 21827105 21827105 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.9849 p.L3283 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 61 28 31.46 76 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21901510 21901510 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 21901510 21901510 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11263 p.D3755N 0.931 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 17 9 34.62 21 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21901552 21901552 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 21901552 21901552 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11305 p.E3769Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 23 6 20.69 26 0 0.00 DNAH11 8701 genome.wustl.edu 37 7 21904205 21904205 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21904205 21904205 G T SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11447 p.R3816L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 29 19 39.58 91 0 0.00 DNAH12 201625 genome.wustl.edu 37 3 57443851 57443851 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 57443851 57443851 C A SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known nonsense c.2959 p.E987* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 22 20 47.62 44 0 0.00 DNAH12 201625 genome.wustl.edu 37 3 57456170 57456170 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 3 57456170 57456170 C T SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known missense c.2105 p.R702Q 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 40 14 25.93 48 0 0.00 DNAH12 201625 genome.wustl.edu 37 3 57493377 57493377 + Nonsense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 57493377 57493377 G C SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known nonsense c.890 p.S297* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 44 11 20.00 41 0 0.00 DNAH12 201625 genome.wustl.edu 37 3 57494205 57494205 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 57494205 57494205 G A SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known missense c.605 p.S202F 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 5 3 37.50 26 0 0.00 DNAH12 201625 genome.wustl.edu 37 3 57528442 57528442 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 57528442 57528442 T C SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known silent c.156 p.K52 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 28 25 47.17 44 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225231637 225231637 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 225231637 225231637 T - DEL DNAH14 ENST00000430092 human ensembl 70_37 +1 known frame_shift_del c.1864 p.S623fs 0.637 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 24 8 25.00 29 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225231637 225231637 + Frame_Shift_Del DEL T T - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 225231637 225231637 T - DEL DNAH14 ENST00000430092 human ensembl 70_37 +1 known frame_shift_del c.1864 p.S623fs 0.637 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 22 3 12.00 50 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225268222 225268222 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225268222 225268222 C T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known nonsense c.2908 p.Q970* 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 18 8 30.77 14 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225268252 225268252 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 225268252 225268252 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.2938 p.E980K 0.462 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 28 11 28.21 37 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225328694 225328694 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 225328694 225328694 C G SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.4428 p.I1476M 0.375 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 16 14 46.67 42 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225332282 225332282 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 225332282 225332282 C T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known silent c.4641 p.A1547 0.939 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 34 7 17.07 33 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225393772 225393772 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225393772 225393772 C G SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6011 p.A2004G 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 31 8 20.51 29 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225394691 225394691 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394691 225394691 G T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known nonsense c.6142 p.E2048* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 24 7 22.58 37 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225394807 225394807 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394807 225394807 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known silent c.6258 p.R2086 0.554 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 47 14 22.95 47 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225394916 225394916 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394916 225394916 G C SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6367 p.E2123Q 0.058 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 27 5 15.62 28 0 0.00 DNAH14 127602 genome.wustl.edu 37 1 225445752 225445752 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 225445752 225445752 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6938 p.R2313K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 48 14 22.58 53 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76430271 76430271 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76430271 76430271 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.12046 p.E4016Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 14 5 26.32 24 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76435191 76435191 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 76435191 76435191 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.11744 p.G3915A 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 36 6 14.29 48 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76454789 76454789 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 76454789 76454789 G A SNP DNAH17 ENST00000592152 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 95 24 20.00 67 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76482068 76482068 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76482068 76482068 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.7207 p.E2403Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 36 18 33.33 47 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76488833 76488833 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 76488833 76488833 G A SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.6381 p.L2127 0.997 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 33 18 35.29 30 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76490185 76490185 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 76490185 76490185 A C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.6299 p.L2100R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 15 62 80.52 70 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76490199 76490199 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 76490199 76490199 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.6285 p.L2095 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 14 24 63.16 29 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76497914 76497914 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 76497914 76497914 G A SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.5199 p.N1733 0.121 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 100 18 15.25 115 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76501392 76501392 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 76501392 76501392 A T SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.4927 p.C1643S 0.993 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 21 55 72.37 88 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76501416 76501416 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 76501416 76501416 C T SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.4903 p.E1635K 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 39 6 13.33 56 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76501504 76501504 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 76501504 76501504 G C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.4815 p.L1605 0.973 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 31 11 26.19 67 0 0.00 DNAH17 8632 genome.wustl.edu 37 17 76570852 76570852 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 76570852 76570852 G C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.288 p.L96 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 24 64 72.73 106 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7641374 7641374 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7641374 7641374 G C SNP DNAH2 ENST00000082259 human ensembl 70_37 +1 known missense c.1264 p.G422R 0.982 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom-1 - no_errors DNAH2 HGNC ENSG00000183914 19 28 59.57 92 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7643227 7643227 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7643227 7643227 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.1347 p.K449N 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 22 25 53.19 31 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7644300 7644300 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7644300 7644300 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.1679 p.R560K 0.965 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 2 7 77.78 13 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7669719 7669719 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7669719 7669719 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.3595 p.E1199Q 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 17 9 34.62 35 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7674219 7674219 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 7674219 7674219 C G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4330 p.L1444V 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 14 15 51.72 31 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7678138 7678138 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7678138 7678138 T G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4563 p.D1521E 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 17 5 22.73 36 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7679425 7679425 + Missense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 7679425 7679425 C A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4905 p.F1635L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 18 8 30.77 38 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7681472 7681472 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 7681472 7681472 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.5325 p.R1775 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 32 4 11.11 57 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7682665 7682665 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7682665 7682665 C T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.5646 p.G1882 0.004 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 56 15 20.83 116 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7690336 7690336 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 7690336 7690336 C T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.6588 p.I2196 0.472 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 32 11 25.58 28 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7695328 7695328 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 7695328 7695328 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known nonsense c.6994 p.E2332* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 114 53 31.55 161 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7695367 7695367 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7695367 7695367 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.7033 p.E2345K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 21 30 58.82 44 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7701562 7701562 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 17 7701562 7701562 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.8318 p.R2773H 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 21 17 44.74 39 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7701881 7701881 + Nonsense_Mutation SNP A A T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 7701881 7701881 A T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known nonsense c.8404 p.K2802* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 36 10 21.74 48 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7721130 7721130 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 7721130 7721130 C G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10192 p.Q3398E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 19 5 20.83 46 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7721144 7721144 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7721144 7721144 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.10206 p.L3402 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 16 9 36.00 31 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7721995 7721995 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 7721995 7721995 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10571 p.R3524L 0.705 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 36 4 10.00 36 0 0.00 DNAH2 146754 genome.wustl.edu 37 17 7722330 7722330 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 7722330 7722330 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10764 p.E3588D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 23 3 11.54 20 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20974746 20974746 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 20974746 20974746 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10460 p.A3487E 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 32 30 48.39 40 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20974837 20974837 + Nonsense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 20974837 20974837 C A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known nonsense c.10369 p.E3457* 0.799 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 40 11 21.57 40 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20975107 20975107 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 20975107 20975107 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10099 p.E3367Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 47 23 32.86 59 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20975107 20975107 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 20975107 20975107 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10099 p.E3367Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 91 27 22.88 128 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20975884 20975884 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 20975884 20975884 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.9322 p.D3108N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 26 26 50.00 34 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20976329 20976329 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 20976329 20976329 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.8877 p.I2959 0.895 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 22 21 48.84 32 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20981115 20981115 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 20981115 20981115 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.8457 p.S2819 0.110 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 31 13 29.55 52 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20994204 20994204 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 20994204 20994204 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.7698 p.M2566I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 36 8 18.18 50 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20996705 20996705 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 20996705 20996705 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.7359 p.Y2453 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 26 26 50.00 21 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 20996705 20996705 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 20996705 20996705 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.7359 p.Y2453 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 36 20 35.71 46 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21031189 21031189 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 21031189 21031189 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.5779 p.E1927K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 19 4 17.39 22 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21053505 21053505 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 21053505 21053505 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.4482 p.V1494 0.588 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 17 29 63.04 46 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21063145 21063145 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 21063145 21063145 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.4084 p.L1362 0.983 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 21 7 25.00 20 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21071588 21071588 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 21071588 21071588 G C SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.3810 p.V1270 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 32 10 23.81 33 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21082114 21082114 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 21082114 21082114 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known nonsense c.3118 p.Q1040* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 29 14 32.56 56 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21086767 21086767 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21086767 21086767 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known splice_site c.3084+1 e21+1 1.000 - - - no_errors DNAH3 HGNC ENSG00000158486 30 13 30.23 38 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21110003 21110003 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 21110003 21110003 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.2454 p.M818I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 60 14 18.92 64 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21139040 21139040 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 21139040 21139040 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.1176 p.H392Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 57 16 21.92 42 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21145629 21145629 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 21145629 21145629 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.1033 p.H345N 0.929 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 25 3 10.71 41 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21147833 21147833 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 16 21147833 21147833 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.698 p.R233K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 95 45 31.91 133 0 0.00 DNAH3 55567 genome.wustl.edu 37 16 21156659 21156659 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 21156659 21156659 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.291 p.F97 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 65 38 36.89 111 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13717460 13717460 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 13717460 13717460 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.12669 p.F4223 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 43 9 17.31 46 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13762864 13762864 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 13762864 13762864 G T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.10248 p.F3416L 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 28 20 41.67 31 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13762864 13762864 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 13762864 13762864 G T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.10248 p.F3416L 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 30 13 30.23 58 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13762907 13762907 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 13762907 13762907 T - DEL DNAH5 ENST00000265104 human ensembl 70_37 -1 known frame_shift_del c.10205 p.N3402fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 14 2 12.50 65 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13771068 13771068 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 13771068 13771068 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.9395 p.S3132F 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 14 20.00 49 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13786454 13786454 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 13786454 13786454 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.8654 p.T2885I 0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 83 12 12.37 116 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13829760 13829760 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 13829760 13829760 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.6303 p.F2101 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 38 6 13.64 28 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13830290 13830290 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 13830290 13830290 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.6094 p.D2032N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 62 13 17.33 79 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13841827 13841827 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 13841827 13841827 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.5458 p.E1820K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 2 8 80.00 16 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13868027 13868027 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 13868027 13868027 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.3909 p.H1303 0.979 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 30 9 23.08 47 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13868031 13868031 + Missense_Mutation SNP A A T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 13868031 13868031 A T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.3905 p.L1302Q 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 96 85 46.45 100 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13868103 13868104 + Splice_Site INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 5 13868103 13868104 - A INS DNAH5 ENST00000265104 human ensembl 70_37 -1 known splice_site_ins c.3835-3_3835-2 e25-2 0.997:0.001 - - - no_errors DNAH5 HGNC ENSG00000039139 28 19 40.43 28 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13885200 13885200 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 13885200 13885200 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.2881 p.H961Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 35 10 22.22 48 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13900383 13900383 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 13900383 13900383 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.2191 p.V731I 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 120 22 15.49 186 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13916485 13916485 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 13916485 13916485 G C SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.1169 p.S390C 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 87 12 12.12 104 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13920589 13920589 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 5 13920589 13920589 C G SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.798 p.Q266H 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 106 19 15.20 97 0 0.00 DNAH5 1767 genome.wustl.edu 37 5 13922308 13922308 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 13922308 13922308 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known nonsense c.568 p.Q190* 0.112 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 23 13 36.11 24 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84756046 84756046 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 84756046 84756046 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.418 p.E140Q 0.005 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 59 11 15.49 57 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84756217 84756217 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 84756217 84756217 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.589 p.E197K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 65 12 15.58 42 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84774646 84774646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 84774646 84774646 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.1096 p.E366K 0.383 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 51 41 44.57 78 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84800608 84800608 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 84800608 84800608 A G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known silent c.1821 p.A607 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 21 10 31.25 54 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84806665 84806665 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 84806665 84806665 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2091 p.M697I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 38 12 24.00 41 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84806723 84806723 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 84806723 84806723 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2149 p.E717K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 142 34 19.32 148 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84806735 84806735 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 84806735 84806735 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2161 p.E721K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 137 33 19.41 135 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84821167 84821167 + Silent SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 84821167 84821167 T C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known silent c.2682 p.D894 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 24 9 27.27 40 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84848475 84848475 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 84848475 84848475 C G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.3953 p.S1318C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 37 18 32.14 68 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84851722 84851722 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 84851722 84851722 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.4331 p.R1444T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 47 15 24.19 54 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84880959 84880959 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 84880959 84880959 G T SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.5595 p.E1865D 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 15 3 16.67 26 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84912464 84912464 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 84912464 84912464 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.6931 p.D2311N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 37 15 28.30 32 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84913648 84913648 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 84913648 84913648 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.7104 p.L2368F 0.157 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 32 6 15.79 48 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84924865 84924865 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 84924865 84924865 G A SNP DNAH6 ENST00000398278 human ensembl 70_37 +1 known missense c.7544 p.R2515K 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 29 5 14.71 24 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84934134 84934134 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 84934134 84934134 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.8842 p.E2948Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 18 10 35.71 20 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84936590 84936590 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 84936590 84936590 C T SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.9172 p.R3058C 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 23 16 41.03 48 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84942753 84942754 + Splice_Site INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 84942753 84942754 - A INS DNAH6 ENST00000237449 human ensembl 70_37 +1 known splice_site_ins c.9611+2_9611+1 e57+2 1.000:0.967 - - - no_errors DNAH6 HGNC ENSG00000115423 20 18 47.37 39 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 84954818 84954818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 84954818 84954818 C G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.9998 p.S3333C 0.847 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 16 17 51.52 38 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 85012777 85012777 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 85012777 85012777 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.10997 p.R3666Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 16 13 44.83 15 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 85023530 85023530 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85023530 85023530 T G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.11340 p.D3780E 0.763 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 18 4 18.18 37 0 0.00 DNAH6 1768 genome.wustl.edu 37 2 85035553 85035553 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 85035553 85035553 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.11626 p.E3876Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 59 52 46.43 93 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196636535 196636535 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 196636535 196636535 G T SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.11282 p.P3761Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 43 22 33.85 122 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196642523 196642523 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 196642523 196642523 C G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known splice_site c.11064+1 e59+1 1.000 - - - no_errors DNAH7 HGNC ENSG00000118997 36 10 21.74 21 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196642531 196642531 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 196642531 196642531 G C SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.11057 p.S3686C 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 14 16 53.33 39 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196722277 196722277 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 196722277 196722277 C T SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.8238 p.M2746I 0.953 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 37 11 22.92 50 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196729067 196729067 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 196729067 196729067 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.7312 p.R2438C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 38 16 29.63 91 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196729379 196729379 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 196729379 196729379 G C SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.7000 p.R2334G 0.860 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 49 27 35.53 45 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196738404 196738404 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 196738404 196738404 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.6301 p.P2101S 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 21 5 19.23 36 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196741270 196741270 + Missense_Mutation SNP T T G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 196741270 196741270 T G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.6115 p.M2039L 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 75 20 21.05 102 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196753533 196753533 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 196753533 196753533 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.5219 p.S1740F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 29 7 19.44 32 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196753575 196753575 + Missense_Mutation SNP T T A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 196753575 196753575 T A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.5177 p.Q1726L 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 14 17 54.84 45 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196765060 196765060 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 196765060 196765060 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known silent c.4494 p.Y1498 0.993 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 80 26 24.53 90 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196834744 196834744 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 196834744 196834744 A G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known silent c.2133 p.D711 0.198 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 44 29 39.73 72 0 0.00 DNAH7 56171 genome.wustl.edu 37 2 196849388 196849388 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 196849388 196849388 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.1801 p.P601S 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 31 7 18.42 55 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38697749 38697749 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 38697749 38697749 T A SNP DNAH8 ENST00000449981 human ensembl 70_37 +1 known missense c.597 p.D199E 0.041 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 19 13 40.62 27 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38702259 38702259 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 38702259 38702259 G A SNP DNAH8 ENST00000449981 human ensembl 70_37 +1 known missense c.620 p.R207Q 0.998 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 37 17 31.48 148 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38709540 38709540 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38709540 38709540 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.519 p.L173 0.992 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 61 22 26.51 68 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38738332 38738332 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 38738332 38738332 G C SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.1110 p.E370D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 54 14 20.59 60 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38738332 38738332 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38738332 38738332 G T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.1110 p.E370D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 16 9 36.00 41 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38790648 38790648 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 38790648 38790648 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.2907 p.L969 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 38 25 39.06 63 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38790763 38790763 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 38790763 38790763 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.3022 p.Q1008* 0.972 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 73 80 52.29 118 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38794087 38794087 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 38794087 38794087 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.3352 p.D1118N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 46 21 30.88 64 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38820563 38820564 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38820563 38820564 - A INS DNAH8 ENST00000359357 human ensembl 70_37 +1 known frame_shift_ins c.4909_4910 p.I1639fs 1.000:1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 9 4 30.77 26 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38830105 38830105 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 38830105 38830105 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.5530 p.P1844A 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 60 11 15.49 61 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38834409 38834409 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38834409 38834409 A C SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.5890 p.K1964Q 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 45 5 10.00 53 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38840874 38840874 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 38840874 38840874 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.6779 p.G2260D 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 33 4 10.81 47 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38840902 38840902 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 38840902 38840902 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.6807 p.L2269 0.556 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 27 18 40.00 33 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38850715 38850715 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38850715 38850715 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.7237 p.Q2413* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 66 19 22.35 61 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38881726 38881726 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38881726 38881726 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.9310 p.E3104K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 20 19 48.72 31 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38893972 38893972 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38893972 38893972 G T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.10453 p.E3485* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 7 8 53.33 29 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38897371 38897371 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 38897371 38897371 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.10552 p.H3518D 0.976 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 25 17 40.48 37 0 0.00 DNAH8 1769 genome.wustl.edu 37 6 38919178 38919178 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 38919178 38919178 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.11682 p.I3894M 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 31 13 29.55 50 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11511460 11511460 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 11511460 11511460 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.432 p.V144 0.940 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 178 128 41.69 275 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11511460 11511460 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 11511460 11511460 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.432 p.V144 0.940 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 20 22 52.38 22 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11535955 11535955 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 11535955 11535955 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.1570 p.R524* 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 21 4 16.00 36 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11573101 11573101 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 11573101 11573101 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.3343 p.V1115I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 161 50 23.70 176 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11593113 11593113 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 11593113 11593113 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.3974 p.R1325M 0.005 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 29 4 12.12 45 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11604523 11604523 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 11604523 11604523 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.5110 p.E1704K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 26 13 33.33 60 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11666898 11666898 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 11666898 11666898 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.7137 p.I2379 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 47 16 25.40 77 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11671931 11671931 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 11671931 11671931 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.7332 p.E2444D 0.640 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 30 4 11.76 39 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11700923 11700923 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 11700923 11700923 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.8233 p.D2745Y 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 32 20 38.46 80 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11701024 11701024 + Silent SNP C C A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 11701024 11701024 C A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.8334 p.T2778 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 68 32 32.00 119 1 0.83 DNAH9 1770 genome.wustl.edu 37 17 11778338 11778338 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 11778338 11778338 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.10315 p.Q3439* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 66 10 13.16 39 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11778359 11778359 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 11778359 11778359 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.10336 p.D3446N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 34 38 52.78 57 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11786911 11786911 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 11786911 11786911 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.10815 p.L3605 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 19 3 13.64 31 0 0.00 DNAH9 1770 genome.wustl.edu 37 17 11835466 11835466 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 11835466 11835466 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.12241 p.G4081* 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 21 3 12.50 54 0 0.00 DNAI1 27019 genome.wustl.edu 37 9 34500823 34500823 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 34500823 34500823 C G SNP DNAI1 ENST00000242317 human ensembl 70_37 +1 known silent c.1005 p.V335 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 19 5 20.83 38 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72278037 72278037 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72278037 72278037 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known silent c.81 p.L27 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 29 23 44.23 57 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72278137 72278137 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72278137 72278137 G T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known nonsense c.181 p.E61* 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 31 26 45.61 63 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72283153 72283153 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72283153 72283153 A C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.383 p.D128A 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 44 5 10.20 55 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72283200 72283200 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72283200 72283200 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.430 p.E144Q 0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 30 25 45.45 61 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72285751 72285751 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 72285751 72285751 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.486 p.K162N 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 30 4 11.76 63 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72285876 72285876 + Splice_Site SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 72285876 72285876 G T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known splice_site c.610+1 e4+1 1.000 - - - no_errors DNAI2 HGNC ENSG00000171595 36 4 10.00 55 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72301440 72301440 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72301440 72301440 T G SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.1070 p.V357G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 29 9 23.68 52 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72308204 72308204 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 72308204 72308204 G A SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known silent c.1557 p.L519 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 24 9 27.27 18 0 0.00 DNAI2 64446 genome.wustl.edu 37 17 72308359 72308359 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 72308359 72308359 C T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.1712 p.T571M 0.028 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 9 19 67.86 26 0 0.00 DNAJA1 3301 genome.wustl.edu 37 9 33038806 33038806 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 33038806 33038806 G A SNP DNAJA1 ENST00000330899 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA1 HGNC ENSG00000086061 11 5 31.25 33 0 0.00 DNAJA2 10294 genome.wustl.edu 37 16 46992983 46992983 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 46992983 46992983 C G SNP DNAJA2 ENST00000317089 human ensembl 70_37 -1 known missense c.979 p.G327R 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA2 HGNC ENSG00000069345 23 14 37.84 57 0 0.00 DNAJA3 9093 genome.wustl.edu 37 16 4506663 4506663 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 4506663 4506663 C T SNP DNAJA3 ENST00000574393 human ensembl 70_37 +1 putative rna NULL NULL 0.005 - - - no_errors DNAJA3 HGNC ENSG00000103423 31 16 34.04 61 0 0.00 DNAJB1 3337 genome.wustl.edu 37 19 14627324 14627324 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 14627324 14627324 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known missense c.746 p.R249K 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB1 HGNC ENSG00000132002 54 7 11.48 85 0 0.00 DNAJB1 3337 genome.wustl.edu 37 19 14627859 14627859 + Splice_Site SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 14627859 14627859 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known splice_site c.212-1 e2-1 1.000 - - - no_errors DNAJB1 HGNC ENSG00000132002 75 19 20.21 140 0 0.00 DNAJB1 3337 genome.wustl.edu 37 19 14629110 14629110 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14629110 14629110 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known missense c.52 p.E18K 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB1 HGNC ENSG00000132002 35 12 25.53 67 0 0.00 DNAJB11 51726 genome.wustl.edu 37 3 186300510 186300510 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 186300510 186300510 C T SNP DNAJB11 ENST00000265028 human ensembl 70_37 +1 known missense c.688 p.P230S 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB11 HGNC ENSG00000090520 13 4 23.53 15 0 0.00 DNAJB11 51726 genome.wustl.edu 37 3 186303135 186303135 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 186303135 186303135 A G SNP DNAJB11 ENST00000265028 human ensembl 70_37 +1 known missense c.1015 p.I339V 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB11 HGNC ENSG00000090520 70 11 13.58 59 0 0.00 DNAJB12 54788 genome.wustl.edu 37 10 74103158 74103158 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 74103158 74103158 C T SNP DNAJB12 ENST00000338820 human ensembl 70_37 -1 known silent c.525 p.K175 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB12 HGNC ENSG00000148719 34 16 32.00 91 0 0.00 DNAJB12 54788 genome.wustl.edu 37 10 74103225 74103225 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 74103225 74103225 C T SNP DNAJB12 ENST00000338820 human ensembl 70_37 -1 known missense c.458 p.R153K 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB12 HGNC ENSG00000148719 19 18 48.65 33 0 0.00 DNAJB14 79982 genome.wustl.edu 37 4 100826837 100826837 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 100826837 100826837 C T SNP DNAJB14 ENST00000442697 human ensembl 70_37 -1 known silent c.759 p.L253 1.000 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC ENSG00000164031 33 6 15.38 39 0 0.00 DNAJB14 79982 genome.wustl.edu 37 4 100844268 100844268 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 100844268 100844268 G A SNP DNAJB14 ENST00000442697 human ensembl 70_37 -1 known missense c.380 p.A127V 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC ENSG00000164031 31 10 24.39 51 0 0.00 DNAJB2 3300 genome.wustl.edu 37 2 220147867 220147867 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 220147867 220147867 C A SNP DNAJB2 ENST00000336576 human ensembl 70_37 +1 known nonsense c.458 p.S153* 0.987 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB2 HGNC ENSG00000135924 54 18 25.00 68 0 0.00 DNAJB4 11080 genome.wustl.edu 37 1 78444880 78444880 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 78444880 78444880 G C SNP DNAJB4 ENST00000487931 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJB4 HGNC ENSG00000162616 17 14 45.16 32 0 0.00 DNAJB5 25822 genome.wustl.edu 37 9 34997162 34997162 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34997162 34997162 G A SNP DNAJB5 ENST00000454002 human ensembl 70_37 +1 known missense c.1169 p.R390Q 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB5 HGNC ENSG00000137094 19 14 42.42 38 0 0.00 DNAJB6 10049 genome.wustl.edu 37 7 157160168 157160168 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 157160168 157160168 G C SNP DNAJB6 ENST00000262177 human ensembl 70_37 +1 known missense c.337 p.D113H 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB6 HGNC ENSG00000105993 85 16 15.84 98 0 0.00 DNAJB6 10049 genome.wustl.edu 37 7 157208765 157208765 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 157208765 157208765 G C SNP DNAJB6 ENST00000262177 human ensembl 70_37 +1 known missense c.954 p.K318N 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB6 HGNC ENSG00000105993 46 14 23.33 57 0 0.00 DNAJB7 150353 genome.wustl.edu 37 22 41257347 41257347 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 41257347 41257347 C G SNP DNAJB7 ENST00000307221 human ensembl 70_37 -1 known missense c.652 p.E218Q 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB7 HGNC ENSG00000172404 60 19 24.05 69 0 0.00 DNAJB8-AS1 285224 genome.wustl.edu 37 3 128182808 128182808 + RNA SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 128182808 128182808 C T SNP DNAJB8-AS1 ENST00000471626 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJB8-AS1 HGNC ENSG00000242049 37 12 24.49 17 0 0.00 DNAJC1 64215 genome.wustl.edu 37 10 22048229 22048229 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 22048229 22048229 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1466 p.R489T 0.050 pfscan_Myb-like_dom pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ENSG00000136770 30 13 30.23 35 0 0.00 DNAJC1 64215 genome.wustl.edu 37 10 22048362 22048362 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 22048362 22048362 G A SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1333 p.R445W 0.997 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ENSG00000136770 14 3 17.65 31 0 0.00 DNAJC1 64215 genome.wustl.edu 37 10 22048443 22048443 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22048443 22048443 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1252 p.E418Q 0.000 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ENSG00000136770 64 19 22.89 105 0 0.00 DNAJC1 64215 genome.wustl.edu 37 10 22048470 22048470 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 22048470 22048470 C T SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1225 p.D409N 0.981 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ENSG00000136770 17 8 32.00 38 0 0.00 DNAJC1 64215 genome.wustl.edu 37 10 22048515 22048515 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 22048515 22048515 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1180 p.V394L 0.213 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC ENSG00000136770 0 20 100.00 27 0 0.00 DNAJC10 54431 genome.wustl.edu 37 2 183581193 183581193 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 183581193 183581193 C T SNP DNAJC10 ENST00000469118 human ensembl 70_37 +1 known rna NULL NULL 0.202 - - - no_errors DNAJC10 HGNC ENSG00000077232 18 13 41.94 20 0 0.00 DNAJC10 54431 genome.wustl.edu 37 2 183584845 183584845 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 183584845 183584845 G A SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.316 p.D106N 1.000 superfamily_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 24 12 33.33 75 0 0.00 DNAJC10 54431 genome.wustl.edu 37 2 183616895 183616895 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 183616895 183616895 C T SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.1531 p.H511Y 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 19 18 48.65 27 0 0.00 DNAJC10 54431 genome.wustl.edu 37 2 183619808 183619808 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 183619808 183619808 G A SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.1630 p.E544K 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 101 22 17.89 86 0 0.00 DNAJC11 55735 genome.wustl.edu 37 1 6694728 6694728 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 6694728 6694728 C T SNP DNAJC11 ENST00000349363 human ensembl 70_37 -1 known missense c.815 p.C272Y 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 31 31 50.00 67 0 0.00 DNAJC11 55735 genome.wustl.edu 37 1 6695696 6695696 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 6695696 6695696 G T SNP DNAJC11 ENST00000465508 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DNAJC11 HGNC ENSG00000007923 25 23 47.92 80 0 0.00 DNAJC11 55735 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 70_37 -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 36 4 10.00 47 0 0.00 DNAJC12 56521 genome.wustl.edu 37 10 69565485 69565485 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 69565485 69565485 G A SNP DNAJC12 ENST00000225171 human ensembl 70_37 -1 known missense c.358 p.H120Y 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC12 HGNC ENSG00000108176 33 12 26.67 39 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132172164 132172164 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 132172164 132172164 G C SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 41 7 14.58 41 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132172523 132172523 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 132172523 132172523 G A SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known silent c.825 p.L275 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 19 13 40.62 17 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132172997 132172997 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 132172997 132172997 G C SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 17 5 22.73 13 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132184866 132184866 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 132184866 132184866 C T SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known silent c.1920 p.L640 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 42 10 19.23 35 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132211367 132211367 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 132211367 132211367 C G SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.3733 p.P1245A 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 77 17 18.09 42 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132224226 132224226 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 132224226 132224226 T G SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.4965 p.F1655L 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 32 6 15.79 45 0 0.00 DNAJC13 23317 genome.wustl.edu 37 3 132245079 132245079 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 132245079 132245079 C T SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.6335 p.A2112V 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 45 10 18.18 51 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56215782 56215782 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 56215782 56215782 C T SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known silent c.2088 p.V696 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 18 8 30.77 29 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56216892 56216892 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 56216892 56216892 C T SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.1596 p.M532I 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 28 7 20.00 54 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56221240 56221240 + Missense_Mutation SNP C C G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 12 56221240 56221240 C G SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.1203 p.L401F 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 31 11 26.19 40 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56221331 56221331 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 56221331 56221331 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.1112 p.S371F 0.996 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 9 11 55.00 20 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56221839 56221839 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 12 56221839 56221839 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.604 p.P202S 0.006 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 32 14 30.43 57 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56222284 56222284 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56222284 56222284 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known silent c.159 p.L53 0.986 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 28 9 24.32 45 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56222339 56222339 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56222339 56222339 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.104 p.S35L 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 43 9 17.31 66 0 0.00 DNAJC14 85406 genome.wustl.edu 37 12 56222390 56222390 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 56222390 56222390 C A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.53 p.G18V 0.995 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 82 31 27.43 164 0 0.00 DNAJC15 29103 genome.wustl.edu 37 13 43597830 43597830 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 43597830 43597830 C T SNP DNAJC15 ENST00000379221 human ensembl 70_37 +1 known missense c.68 p.S23L 0.002 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC15 HGNC ENSG00000120675 10 12 54.55 34 0 0.00 DNAJC16 23341 genome.wustl.edu 37 1 15855639 15855639 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 15855639 15855639 G C SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known missense c.39 p.L13F 1.000 superfamily_DnaJ_N pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC ENSG00000116138 54 20 27.03 54 0 0.00 DNAJC16 23341 genome.wustl.edu 37 1 15863003 15863003 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 15863003 15863003 G A SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known missense c.268 p.D90N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC ENSG00000116138 70 16 18.60 25 0 0.00 DNAJC16 23341 genome.wustl.edu 37 1 15863294 15863294 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 15863294 15863294 G T SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known nonsense c.559 p.E187* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC ENSG00000116138 71 15 17.44 64 0 0.00 DNAJC16 23341 genome.wustl.edu 37 1 15896204 15896204 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 15896204 15896204 C T SNP DNAJC16 ENST00000495523 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors DNAJC16 HGNC ENSG00000116138 32 17 34.69 30 0 0.00 DNAJC17 55192 genome.wustl.edu 37 15 41068475 41068475 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 41068475 41068475 C T SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.397 p.E133K 1.000 NULL pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC ENSG00000104129 15 10 40.00 26 0 0.00 DNAJC17 55192 genome.wustl.edu 37 15 41071455 41071455 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41071455 41071455 C A SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.261 p.Q87H 1.000 NULL pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC ENSG00000104129 69 29 29.59 94 0 0.00 DNAJC17 55192 genome.wustl.edu 37 15 41071466 41071466 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41071466 41071466 C G SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.250 p.E84Q 1.000 superfamily_DnaJ_N pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC ENSG00000104129 66 29 30.53 90 0 0.00 DNAJC18 202052 genome.wustl.edu 37 5 138749836 138749836 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138749836 138749836 C G SNP DNAJC18 ENST00000515559 human ensembl 70_37 -1 putative rna NULL NULL 0.494 - - - no_errors DNAJC18 HGNC ENSG00000170464 21 23 50.00 43 0 0.00 DNAJC18 202052 genome.wustl.edu 37 5 138749919 138749919 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138749919 138749919 C T SNP DNAJC18 ENST00000302060 human ensembl 70_37 -1 known missense c.995 p.R332Q 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC18 HGNC ENSG00000170464 31 19 38.00 54 0 0.00 DNAJC18 202052 genome.wustl.edu 37 5 138755781 138755781 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138755781 138755781 C G SNP DNAJC18 ENST00000302060 human ensembl 70_37 -1 known missense c.913 p.D305H 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC18 HGNC ENSG00000170464 59 39 39.80 79 0 0.00 DNAJC2 27000 genome.wustl.edu 37 7 102956536 102956536 + Splice_Site SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 102956536 102956536 C T SNP DNAJC2 ENST00000379263 human ensembl 70_37 -1 known splice_site c.1428-1 e14-1 1.000 - - - no_errors DNAJC2 HGNC ENSG00000105821 24 16 40.00 41 0 0.00 DNAJC2 27000 genome.wustl.edu 37 7 102962392 102962392 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 102962392 102962392 C A SNP DNAJC2 ENST00000379263 human ensembl 70_37 -1 known missense c.1070 p.R357L 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC2 HGNC ENSG00000105821 37 6 13.95 23 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34929994 34929994 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 34929994 34929994 C G SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.70 p.R24G 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 45 20 30.77 55 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34935831 34935831 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 34935831 34935831 G C SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.208 p.E70Q 1.000 superfamily_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 26 18 40.91 57 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34937497 34937497 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 34937497 34937497 G A SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.505 p.E169K 1.000 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 10 7 41.18 30 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34945078 34945078 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 34945078 34945078 A C SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.1090 p.N364H 0.985 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 11 6 35.29 18 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34949771 34949771 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 34949771 34949771 G A SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 223 43 16.10 92 0 0.00 DNAJC21 134218 genome.wustl.edu 37 5 34950383 34950383 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 34950383 34950383 C T SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known nonsense c.1429 p.Q477* 0.971 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC ENSG00000168724 53 6 10.17 42 0 0.00 DNAJC22 79962 genome.wustl.edu 37 12 49743276 49743276 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49743276 49743276 C A SNP DNAJC22 ENST00000395069 human ensembl 70_37 +1 known silent c.621 p.T207 0.216 NULL pfam_DnaJ_N,pfam_TM2,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC22 HGNC ENSG00000178401 46 12 20.69 43 0 0.00 DNAJC24 120526 genome.wustl.edu 37 11 31447908 31447909 + RNA INS - - T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 31447908 31447909 - T INS DNAJC24 ENST00000524747 human ensembl 70_37 +1 known rna NULL NULL 0.646:0.001 - - - no_errors DNAJC24 HGNC ENSG00000170946 29 5 14.71 23 0 0.00 DNAJC27 51277 genome.wustl.edu 37 2 25170541 25170541 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 25170541 25170541 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.766 p.D256N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 49 13 20.97 58 0 0.00 DNAJC27 51277 genome.wustl.edu 37 2 25179980 25179980 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 25179980 25179980 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.460 p.E154K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 11 8 42.11 23 0 0.00 DNAJC27 51277 genome.wustl.edu 37 2 25180768 25180768 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 25180768 25180768 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.316 p.A106T 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 42 5 10.64 27 0 0.00 DNAJC27 51277 genome.wustl.edu 37 2 25181414 25181414 + Splice_Site SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 25181414 25181414 A G SNP DNAJC27 ENST00000380809 human ensembl 70_37 -1 known splice_site c.273+2 e4+2 0.421 - - - no_errors DNAJC27 HGNC ENSG00000115137 18 12 40.00 45 0 0.00 DNAJC27-AS1 729723 genome.wustl.edu 37 2 25224348 25224348 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 25224348 25224348 G A SNP DNAJC27-AS1 ENST00000434897 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJC27-AS1 HGNC ENSG00000224165 21 14 40.00 28 0 0.00 DNAJC28 54943 genome.wustl.edu 37 21 34860889 34860889 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 34860889 34860889 C T SNP DNAJC28 ENST00000314399 human ensembl 70_37 -1 known missense c.812 p.R271K 0.997 pfam_DnaJ_homolog_subfam-C_membr-28 pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC28 HGNC ENSG00000177692 145 74 33.79 215 0 0.00 DNAJC3 5611 genome.wustl.edu 37 13 96438251 96438251 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 96438251 96438251 A C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known missense c.1134 p.E378D 1.000 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC ENSG00000102580 34 14 29.17 31 0 0.00 DNAJC3 5611 genome.wustl.edu 37 13 96438258 96438258 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 96438258 96438258 G C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known missense c.1141 p.E381Q 1.000 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC ENSG00000102580 36 14 28.00 32 0 0.00 DNAJC3 5611 genome.wustl.edu 37 13 96439260 96439260 + Splice_Site SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 96439260 96439260 G C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known splice_site c.1209-1 e11-1 1.000 - - - no_errors DNAJC3 HGNC ENSG00000102580 40 35 46.67 61 0 0.00 DNAJC30 84277 genome.wustl.edu 37 7 73097088 73097088 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 73097088 73097088 G A SNP DNAJC30 ENST00000395176 human ensembl 70_37 -1 known silent c.666 p.I222 0.004 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC30 HGNC ENSG00000176410 26 14 35.00 29 0 0.00 DNAJC4 3338 genome.wustl.edu 37 11 64000216 64000216 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 64000216 64000216 C T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.406 p.H136Y 0.984 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC ENSG00000110011 107 15 12.30 69 0 0.00 DNAJC4 3338 genome.wustl.edu 37 11 64000216 64000216 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 64000216 64000216 C T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.406 p.H136Y 0.984 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC ENSG00000110011 48 8 14.29 25 0 0.00 DNAJC4 3338 genome.wustl.edu 37 11 64001629 64001629 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 64001629 64001629 G T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.699 p.E233D 0.002 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC ENSG00000110011 34 21 38.18 40 0 0.00 DNAJC5 80331 genome.wustl.edu 37 20 62559804 62559804 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 62559804 62559804 C T SNP DNAJC5 ENST00000360864 human ensembl 70_37 +1 known missense c.106 p.R36W 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5 HGNC ENSG00000101152 80 11 12.09 84 0 0.00 DNAJC5B 85479 genome.wustl.edu 37 8 66989059 66989059 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 66989059 66989059 G A SNP DNAJC5B ENST00000276570 human ensembl 70_37 +1 known missense c.284 p.G95E 1.000 prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5B HGNC ENSG00000147570 49 29 37.18 58 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65775468 65775468 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 65775468 65775468 G T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.40 p.D14Y 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 41 14 25.45 77 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65831606 65831606 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65831606 65831606 C A SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.383 p.S128Y 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 34 10 22.73 96 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65831791 65831791 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 65831791 65831791 G A SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.455 p.R152Q 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 25 21 45.65 60 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65858183 65858183 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65858183 65858183 C G SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known nonsense c.1538 p.S513* 0.999 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 29 17 36.96 44 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65860665 65860665 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 65860665 65860665 C T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.1988 p.S663F 0.999 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 28 12 30.00 50 0 0.00 DNAJC6 9829 genome.wustl.edu 37 1 65878639 65878639 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65878639 65878639 G T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.2844 p.K948N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 34 17 33.33 65 0 0.00 DNAJC7 7266 genome.wustl.edu 37 17 40133891 40133891 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 40133891 40133891 C T SNP DNAJC7 ENST00000457167 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 superfamily_DnaJ_N pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC7 HGNC ENSG00000168259 43 26 37.68 76 0 0.00 DNAJC8 22826 genome.wustl.edu 37 1 28530314 28530314 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 28530314 28530314 C T SNP DNAJC8 ENST00000263697 human ensembl 70_37 -1 known missense c.583 p.E195K 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC8 HGNC ENSG00000126698 52 13 20.00 75 0 0.00 DNAJC8 22826 genome.wustl.edu 37 1 28555487 28555487 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 28555487 28555487 C G SNP DNAJC8 ENST00000263697 human ensembl 70_37 -1 known missense c.126 p.Q42H 1.000 superfamily_DnaJ_N pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC8 HGNC ENSG00000126698 132 48 26.37 160 0 0.00 DNAL1 83544 genome.wustl.edu 37 14 74156098 74156098 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 74156098 74156098 G A SNP DNAL1 ENST00000553645 human ensembl 70_37 +1 known missense c.412 p.E138K 1.000 NULL NULL - no_errors DNAL1 HGNC ENSG00000119661 32 8 20.00 23 0 0.00 DNAL4 10126 genome.wustl.edu 37 22 39175601 39175601 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 39175601 39175601 G C SNP DNAL4 ENST00000216068 human ensembl 70_37 -1 known missense c.171 p.I57M 1.000 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 - no_errors DNAL4 HGNC ENSG00000100246 46 19 29.23 51 0 0.00 DNALI1 7802 genome.wustl.edu 37 1 38027339 38027339 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 38027339 38027339 G C SNP DNALI1 ENST00000497858 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DNALI1 HGNC ENSG00000163879 37 13 26.00 44 0 0.00 DNALI1 7802 genome.wustl.edu 37 1 38027426 38027426 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38027426 38027426 C T SNP DNALI1 ENST00000497858 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNALI1 HGNC ENSG00000163879 10 5 33.33 9 0 0.00 DNASE1L1 1774 genome.wustl.edu 37 X 153631423 153631423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153631423 153631423 C T SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known missense c.634 p.D212N 0.927 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC ENSG00000013563 82 14 14.58 85 0 0.00 DNASE1L1 1774 genome.wustl.edu 37 X 153631423 153631423 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 153631423 153631423 C T SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known missense c.634 p.D212N 0.927 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC ENSG00000013563 55 23 29.49 75 0 0.00 DNASE1L1 1774 genome.wustl.edu 37 X 153631924 153631924 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 153631924 153631924 G A SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known silent c.351 p.N117 0.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC ENSG00000013563 104 52 33.33 51 0 0.00 DNER 92737 genome.wustl.edu 37 2 230282895 230282895 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 230282895 230282895 G A SNP DNER ENST00000341772 human ensembl 70_37 -1 known missense c.1538 p.P513L 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 17 3 15.00 25 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6530458 6530458 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 6530458 6530458 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known silent c.1191 p.L397 0.395 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 15 14 48.28 22 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6566173 6566173 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 6566173 6566173 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.4004 p.S1335L 0.026 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 75 51 40.48 56 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6567870 6567870 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 6567870 6567870 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.5701 p.R1901C 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 24 24 50.00 72 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6568297 6568297 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6568297 6568297 G A SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.6128 p.G2043E 0.998 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 24 8 25.00 22 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6580204 6580204 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6580204 6580204 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.9284 p.S3095L 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 32 26 44.83 44 0 0.00 DNHD1 144132 genome.wustl.edu 37 11 6587071 6587071 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 6587071 6587071 G C SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.10903 p.E3635Q 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 21 5 19.23 27 0 0.00 DNLZ 728489 genome.wustl.edu 37 9 139257548 139257548 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 139257548 139257548 G C SNP DNLZ ENST00000371738 human ensembl 70_37 -1 known silent c.261 p.S87 1.000 pfam_Znf_DNL-typ pfam_Znf_DNL-typ - no_errors DNLZ HGNC ENSG00000213221 51 7 12.07 85 0 0.00 DNLZ 728489 genome.wustl.edu 37 9 139257980 139257997 + In_Frame_Del DEL GCCCCAGAGCCGCCGCGG GCCCCAGAGCCGCCGCGG - TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 GCCCCAGAGCCGCCGCGG GCCCCAGAGCCGCCGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 139257980 139257997 GCCCCAGAGCCGCCGCGG - DEL DNLZ ENST00000371738 human ensembl 70_37 -1 known in_frame_del c.187_170 p.PAAALG57in_frame_del 0.005:0.007:0.064:0.067:0.062:0.062:0.050:0.044:0.061:0.084:0.058:0.081:0.066:0.064:0.036:0.037:0.050:0.061 NULL pfam_Znf_DNL-typ - no_errors DNLZ HGNC ENSG00000213221 17 3 15.00 17 0 0.00 DNM1 1759 genome.wustl.edu 37 9 130984795 130984795 + Missense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 130984795 130984795 C A SNP DNM1 ENST00000372923 human ensembl 70_37 +1 known missense c.1048 p.Q350K 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM1 HGNC ENSG00000106976 11 9 45.00 18 0 0.00 DNM1L 10059 genome.wustl.edu 37 12 32866193 32866193 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 32866193 32866193 C T SNP DNM1L ENST00000553257 human ensembl 70_37 +1 known silent c.546 p.L182 0.993 pfam_Dynamin_GTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors DNM1L HGNC ENSG00000087470 29 27 47.37 58 0 0.00 DNM1L 10059 genome.wustl.edu 37 12 32890800 32890800 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 32890800 32890800 C T SNP DNM1L ENST00000553257 human ensembl 70_37 +1 known missense c.1637 p.S546F 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors DNM1L HGNC ENSG00000087470 113 29 20.42 162 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100330967 100330968 + RNA INS - - AC TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 100330967 100330968 - AC INS DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.008 - - - no_errors DNM1P46 HGNC ENSG00000182397 11 9 45.00 11 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100332722 100332722 + RNA SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 15 100332722 100332722 C T SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 175 144 43.77 71 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100339984 100339984 + RNA SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 15 100339984 100339984 G T SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 72 17 18.48 32 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100340186 100340186 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC ENSG00000182397 39 5 11.36 36 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100340349 100340349 + RNA SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 15 100340349 100340349 C A SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 36 5 12.20 25 0 0.00 DNM1P46 196968 genome.wustl.edu 37 15 100345136 100345137 + Splice_Site INS - - A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 100345136 100345137 - A INS DNM1P46 ENST00000341853 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.074:0.098 - - - no_errors DNM1P46 HGNC ENSG00000182397 22 4 15.38 20 0 0.00 DNM2 1785 genome.wustl.edu 37 19 10886383 10886383 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10886383 10886383 G A SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 17 16 48.48 18 0 0.00 DNM2 1785 genome.wustl.edu 37 19 10886548 10886548 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 10886548 10886548 C T SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known silent c.555 p.D185 0.015 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 13 4 23.53 22 0 0.00 DNM2 1785 genome.wustl.edu 37 19 10922966 10922966 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 10922966 10922966 C G SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known missense c.1584 p.I528M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 35 17 32.69 50 0 0.00 DNM3 26052 genome.wustl.edu 37 1 172348158 172348158 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 172348158 172348158 G T SNP DNM3 ENST00000358155 human ensembl 70_37 +1 known missense c.1894 p.A632S 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM3 HGNC ENSG00000197959 36 4 10.00 51 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101637012 101637012 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 101637012 101637012 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.4702 p.E1568K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 35 24 40.68 96 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101645515 101645515 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101645515 101645515 G C SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.3799 p.P1267A 0.994 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 51 16 23.88 68 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101656053 101656053 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 101656053 101656053 G T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.3094 p.L1032M 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 29 4 12.12 31 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101715391 101715391 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 101715391 101715391 G A SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1840 p.R614C 1.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 29 8 21.62 57 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101715662 101715662 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101715662 101715662 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1569 p.M523I 0.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 151 43 22.16 245 0 0.00 DNMBP 23268 genome.wustl.edu 37 10 101716192 101716192 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101716192 101716192 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.004 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 74 21 22.11 112 0 0.00 DNMBP-AS1 100188954 genome.wustl.edu 37 10 101716973 101716973 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 101716973 101716973 G T SNP DNMBP-AS1 ENST00000434409 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DNMBP-AS1 HGNC ENSG00000227695 10 5 33.33 19 0 0.00 DNMT1 1786 genome.wustl.edu 37 19 10254660 10254660 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 10254660 10254660 G C SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.2898 p.I966M 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 16 6 27.27 30 0 0.00 DNMT1 1786 genome.wustl.edu 37 19 10262176 10262176 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10262176 10262176 G A SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known silent c.2163 p.V721 0.054 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 69 9 11.54 66 0 0.00 DNMT1 1786 genome.wustl.edu 37 19 10265036 10265036 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10265036 10265036 T G SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.1952 p.Q651P 1.000 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 20 7 25.93 28 0 0.00 DNMT1 1786 genome.wustl.edu 37 19 10273368 10273368 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 10273368 10273368 G A SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.983 p.S328F 0.064 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 34 19 35.85 96 0 0.00 DNMT3A 1788 genome.wustl.edu 37 2 25469057 25469057 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 25469057 25469057 G A SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known silent c.1401 p.V467 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 39 10 20.41 44 0 0.00 DNMT3A 1788 genome.wustl.edu 37 2 25469588 25469588 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 25469588 25469588 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.1180 p.D394N 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 24 10 29.41 23 0 0.00 DNMT3A 1788 genome.wustl.edu 37 2 25505330 25505330 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 25505330 25505330 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.428 p.R143Q 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 34 11 24.44 65 0 0.00 DNMT3L 29947 genome.wustl.edu 37 21 45675965 45675965 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 45675965 45675965 C G SNP DNMT3L ENST00000270172 human ensembl 70_37 -1 known missense c.589 p.E197Q 0.965 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 33 32 49.23 60 0 0.00 DNPEP 23549 genome.wustl.edu 37 2 220246294 220246294 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 220246294 220246294 C A SNP DNPEP ENST00000273075 human ensembl 70_37 -1 known missense c.1110 p.E370D 1.000 pfam_Peptidase_M18,pfam_Peptidase_M42 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 24 4 14.29 34 0 0.00 DNTT 1791 genome.wustl.edu 37 10 98080494 98080494 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 98080494 98080494 G C SNP DNTT ENST00000371174 human ensembl 70_37 +1 known missense c.627 p.K209N 0.998 superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 30 6 16.67 34 0 0.00 DNTTIP1 116092 genome.wustl.edu 37 20 44424004 44424004 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 44424004 44424004 G A SNP DNTTIP1 ENST00000372622 human ensembl 70_37 +1 known silent c.294 p.L98 0.946 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 49 10 16.95 57 0 0.00 DNTTIP2 30836 genome.wustl.edu 37 1 94342116 94342116 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94342116 94342116 C G SNP DNTTIP2 ENST00000436063 human ensembl 70_37 -1 known missense c.1375 p.E459Q 1.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 41 35 46.05 35 0 0.00 DNTTIP2 30836 genome.wustl.edu 37 1 94342815 94342815 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 94342815 94342815 C G SNP DNTTIP2 ENST00000436063 human ensembl 70_37 -1 known missense c.676 p.E226Q 0.412 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 33 25 42.37 45 0 0.00 DNTTIP2 30836 genome.wustl.edu 37 1 94344778 94344778 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 94344778 94344778 C G SNP DNTTIP2 ENST00000460191 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DNTTIP2 HGNC ENSG00000067334 10 8 44.44 21 0 0.00 DOC2A 8448 genome.wustl.edu 37 16 30018395 30018395 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30018395 30018395 G C SNP DOC2A ENST00000350119 human ensembl 70_37 -1 known missense c.671 p.S224C 0.965 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Doc2 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Doc2,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors DOC2A HGNC ENSG00000149927 23 22 48.89 32 0 0.00 DOC2B 8447 genome.wustl.edu 37 17 6018 6018 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 6018 6018 C T SNP DOC2B ENST00000343572 human ensembl 70_37 -1 known missense c.916 p.V306M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors DOC2B HGNC ENSG00000262359 28 12 30.00 49 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 128780198 128780198 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 128780198 128780198 C T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.188 p.S63L 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 56 44 44.00 73 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 128788832 128788832 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 128788832 128788832 G T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.438 p.K146N 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 18 12 40.00 53 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 128795093 128795093 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 128795093 128795093 C T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.555 p.F185 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 99 31 23.66 176 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 128908536 128908536 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 128908536 128908536 C G SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.2478 p.L826 0.147 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 43 5 10.42 39 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 129055717 129055717 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 129055717 129055717 C T SNP DOCK1 ENST00000495574 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DOCK1 HGNC ENSG00000150760 13 14 51.85 46 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 129172094 129172094 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 10 129172094 129172094 G C SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.3419 p.R1140T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 23 3 11.54 33 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 129216661 129216661 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 129216661 129216661 G A SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.4485 p.E1495 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 13 7 35.00 35 0 0.00 DOCK1 1793 genome.wustl.edu 37 10 129231692 129231692 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 129231692 129231692 G C SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.4997 p.G1666A 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 24 3 11.11 38 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225635056 225635056 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 225635056 225635056 C A SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6316 p.D2106Y 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 14 25 64.10 56 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225637916 225637916 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 225637916 225637916 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6162 p.M2054I 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 25 12 32.43 43 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225637916 225637916 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 225637916 225637916 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6162 p.M2054I 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 31 13 29.55 32 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225662651 225662651 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 225662651 225662651 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.4542 p.L1514F 0.986 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 32 5 13.51 96 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225670166 225670166 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 225670166 225670166 T C SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.3895 p.T1299A 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 38 19 32.76 73 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225729288 225729288 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 225729288 225729288 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.1584 p.K528N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 11 4 26.67 16 0 0.00 DOCK10 55619 genome.wustl.edu 37 2 225751178 225751178 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 225751178 225751178 C T SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.487 p.E163K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 32 4 11.11 36 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117676770 117676770 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 117676770 117676770 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.185 p.R62Q 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 38 11 22.45 95 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117695418 117695418 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 117695418 117695418 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.631 p.E211K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 45 25 35.71 97 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117718726 117718726 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 117718726 117718726 C G SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.1624 p.L542V 0.909 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 27 5 15.62 15 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117731498 117731498 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 117731498 117731498 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2368 p.D790N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 11 27 71.05 51 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117739291 117739291 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 117739291 117739291 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2653 p.E885K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 47 10 17.54 53 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117739292 117739292 + Missense_Mutation SNP A A T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 117739292 117739292 A T SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2654 p.E885V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 48 11 18.64 53 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117748713 117748713 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 117748713 117748713 C T SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.3155 p.S1052F 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 48 22 31.43 61 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117783038 117783038 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 117783038 117783038 G C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.4529 p.R1510T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 29 21 42.00 50 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117809942 117809942 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 117809942 117809942 A C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.5243 p.K1748T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 30 14 31.82 74 0 0.00 DOCK11 139818 genome.wustl.edu 37 X 117817118 117817118 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117817118 117817118 G C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.6040 p.E2014Q 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 82 23 21.90 94 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169125422 169125422 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169125422 169125422 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.1024 p.E342K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 27 7 20.59 40 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169143268 169143268 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 169143268 169143268 C A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.1993 p.Q665K 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 19 3 13.64 37 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169186751 169186751 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 169186751 169186751 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.2419 p.E807K 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 108 39 26.53 145 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169410110 169410110 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 169410110 169410110 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.2838 p.Q946 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 20 9 31.03 27 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169461438 169461438 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 169461438 169461438 C T SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.3503 p.A1168V 0.944 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 26 18 40.91 62 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169472857 169472857 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 169472857 169472857 C T SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.3914 p.A1305V 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 30 15 33.33 45 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169496194 169496194 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 169496194 169496194 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.4698 p.L1566 1.000 pfam_DOCK_C,superfamily_Cyt_c_dom pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 14 5 26.32 19 0 0.00 DOCK2 1794 genome.wustl.edu 37 5 169506072 169506072 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169506072 169506072 G C SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.5088 p.R1696 0.744 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 31 29 48.33 56 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 50816135 50816135 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 50816135 50816135 C G SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.67 p.Q23E 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 1 3 75.00 9 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51251581 51251581 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 51251581 51251581 T C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known silent c.1155 p.R385 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 20 11 35.48 37 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51251661 51251661 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 51251661 51251661 C A SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.1235 p.P412H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 8 13 61.90 30 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51265439 51265440 + Frame_Shift_Del DEL TT TT - TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 3 51265439 51265440 TT - DEL DOCK3 ENST00000266037 human ensembl 70_37 +1 known frame_shift_del c.1567_1568 p.F523fs 1.000:1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 35 7 16.67 45 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51393850 51393850 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51393850 51393850 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.4429 p.E1477Q 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 31 23 42.59 42 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51393915 51393915 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51393915 51393915 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.4494 p.R1498S 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 34 25 42.37 39 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51418883 51418883 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51418883 51418883 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.5986 p.E1996Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 10 4 28.57 14 0 0.00 DOCK3 1795 genome.wustl.edu 37 3 51418899 51418899 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 51418899 51418899 G C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.6002 p.R2001P 0.994 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 8 8 50.00 14 0 0.00 DOCK4 9732 genome.wustl.edu 37 7 111449381 111449381 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 111449381 111449381 G A SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.3083 p.S1028F 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 18 5 21.74 33 0 0.00 DOCK4 9732 genome.wustl.edu 37 7 111451965 111451965 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 111451965 111451965 G A SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.2971 p.R991C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 29 13 30.95 51 0 0.00 DOCK4 9732 genome.wustl.edu 37 7 111508135 111508135 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 111508135 111508135 C T SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.2185 p.E729K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 32 5 13.51 53 0 0.00 DOCK4 9732 genome.wustl.edu 37 7 111629071 111629071 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 111629071 111629071 C G SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.463 p.E155Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 36 20 35.09 32 0 0.00 DOCK5 80005 genome.wustl.edu 37 8 25156598 25156598 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25156598 25156598 G T SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.745 p.D249Y 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 40 21 34.43 90 0 0.00 DOCK5 80005 genome.wustl.edu 37 8 25198414 25198414 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 25198414 25198414 T A SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.2349 p.D783E 0.987 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 12 9 42.86 25 0 0.00 DOCK5 80005 genome.wustl.edu 37 8 25226173 25226173 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25226173 25226173 A G SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.3370 p.T1124A 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 10 6 37.50 29 0 0.00 DOCK5 80005 genome.wustl.edu 37 8 25227100 25227100 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25227100 25227100 A G SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.3467 p.D1156G 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 37 6 13.95 49 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11322793 11322793 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11322793 11322793 G C SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.4526 p.S1509C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 22 15 40.54 19 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11323983 11323983 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 11323983 11323983 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.4360 p.E1454K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 91 58 38.41 133 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11332632 11332632 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 11332632 11332632 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.3445 p.D1149N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 21 7 25.00 48 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11347157 11347157 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11347157 11347157 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.2257 p.V753M 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 54 26 32.50 60 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11361763 11361763 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11361763 11361763 C G SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known splice_site c.508-1 e6-1 1.000 - - - no_errors DOCK6 HGNC ENSG00000130158 65 17 20.73 70 0 0.00 DOCK6 57572 genome.wustl.edu 37 19 11362920 11362920 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 11362920 11362920 G C SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.382 p.Q128E 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 59 33 35.87 41 0 0.00 DOCK7 85440 genome.wustl.edu 37 1 62959997 62959997 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 62959997 62959997 C G SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.5139 p.L1713F 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 19 16 44.44 49 0 0.00 DOCK7 85440 genome.wustl.edu 37 1 62976295 62976295 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 62976295 62976295 C G SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.4305 p.W1435C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 28 20 41.67 37 0 0.00 DOCK7 85440 genome.wustl.edu 37 1 63001290 63001290 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 63001290 63001290 G T SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.3485 p.S1162Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 51 19 27.14 36 0 0.00 DOCK7 85440 genome.wustl.edu 37 1 63044519 63044519 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 63044519 63044519 C T SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.1990 p.E664K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 158 20 11.17 146 0 0.00 DOCK7 85440 genome.wustl.edu 37 1 63052286 63052286 + Silent SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 63052286 63052286 G C SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known silent c.1692 p.L564 0.995 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 78 10 11.36 41 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 304664 304664 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 304664 304664 T A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.488 p.F163Y 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 27 16 37.21 30 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 334240 334240 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 334240 334240 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.1141 p.E381Q 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 31 15 32.61 28 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 368025 368025 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 368025 368025 C G SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.1687 p.L563V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 74 10 11.90 118 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 405010 405010 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 405010 405010 G A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3327 p.L1109 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 22 38 63.33 86 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 414809 414809 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 414809 414809 C T SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3558 p.V1186 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 51 27 34.18 77 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 414881 414881 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 414881 414881 A C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.3630 p.K1210N 0.981 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 43 29 40.28 97 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 418177 418177 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 418177 418177 G A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3810 p.L1270 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 215 60 21.82 209 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 421049 421049 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 421049 421049 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.4124 p.R1375T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 98 40 28.78 69 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 463533 463533 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 463533 463533 G C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.6085 p.E2029Q 0.998 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 17 20 54.05 26 0 0.00 DOCK8 81704 genome.wustl.edu 37 9 465199 465199 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 465199 465199 T G SNP DOCK8 ENST00000462618 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DOCK8 HGNC ENSG00000107099 12 15 55.56 47 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99446896 99446896 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 99446896 99446896 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.6266 p.S2089L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 38 30 44.12 88 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99481710 99481710 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 99481710 99481710 C T SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.4750 p.A1584T 0.998 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 25 4 13.79 35 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99537987 99537987 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99537987 99537987 C T SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.2238 p.K746 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 56 34 37.78 83 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99540624 99540624 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 99540624 99540624 G C SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.1970 p.S657C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 7 18 72.00 37 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99554035 99554035 + Silent SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 13 99554035 99554035 A G SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.1503 p.S501 0.985 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 48 15 23.81 51 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99567589 99567589 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 99567589 99567589 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.889 p.H297Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 71 21 22.83 78 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99567632 99567632 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 99567632 99567632 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.846 p.L282 1.000 smart_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 31 28 47.46 77 0 0.00 DOCK9 23348 genome.wustl.edu 37 13 99667822 99667822 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 99667822 99667822 C T SNP DOCK9 ENST00000448493 human ensembl 70_37 -1 known missense c.41 p.R14H 1.000 NULL pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 51 14 21.54 58 0 0.00 DOK1 1796 genome.wustl.edu 37 2 74783590 74783590 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 74783590 74783590 C G SNP DOK1 ENST00000233668 human ensembl 70_37 +1 known silent c.795 p.L265 0.002 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 56 19 25.00 40 0 0.00 DOK2 9046 genome.wustl.edu 37 8 21767414 21767414 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 8 21767414 21767414 C T SNP DOK2 ENST00000276420 human ensembl 70_37 -1 known missense c.647 p.R216H 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 29 29 50.00 36 0 0.00 DOK3 79930 genome.wustl.edu 37 5 176931139 176931139 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 176931139 176931139 C T SNP DOK3 ENST00000357198 human ensembl 70_37 -1 known missense c.1336 p.D446N 0.116 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 42 23 34.85 60 0 0.00 DOK3 79930 genome.wustl.edu 37 5 176936488 176936488 + Silent SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 176936488 176936488 G T SNP DOK3 ENST00000357198 human ensembl 70_37 -1 known silent c.222 p.V74 0.495 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 18 23 56.10 97 0 0.00 DOK5 55816 genome.wustl.edu 37 20 53226988 53226988 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 53226988 53226988 C G SNP DOK5 ENST00000262593 human ensembl 70_37 +1 known missense c.661 p.Q221E 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 113 30 20.98 135 0 0.00 DOK6 220164 genome.wustl.edu 37 18 67231744 67231744 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 67231744 67231744 G T SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.88 p.V30F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 22 4 15.38 42 0 0.00 DOK6 220164 genome.wustl.edu 37 18 67344969 67344969 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 67344969 67344969 G A SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known splice_site c.290-1 e4-1 1.000 - - - no_errors DOK6 HGNC ENSG00000206052 35 23 39.66 104 0 0.00 DOK6 220164 genome.wustl.edu 37 18 67344975 67344975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67344975 67344975 G C SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.295 p.E99Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 62 35 36.08 84 0 0.00 DOK6 220164 genome.wustl.edu 37 18 67365819 67365819 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 67365819 67365819 G A SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.589 p.E197K 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 38 16 29.63 66 0 0.00 DOLK 22845 genome.wustl.edu 37 9 131708402 131708402 + Missense_Mutation SNP A A T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 131708402 131708402 A T SNP DOLK ENST00000372586 human ensembl 70_37 -1 known missense c.1181 p.L394H 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 18 17 48.57 33 0 0.00 DOLK 22845 genome.wustl.edu 37 9 131708526 131708526 + Missense_Mutation SNP T T C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 131708526 131708526 T C SNP DOLK ENST00000372586 human ensembl 70_37 -1 known missense c.1057 p.I353V 0.938 NULL NULL - no_errors DOLK HGNC ENSG00000175283 47 15 24.19 62 0 0.00 DONSON 29980 genome.wustl.edu 37 21 34951825 34951825 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 21 34951825 34951825 C G SNP DONSON ENST00000303071 human ensembl 70_37 -1 known missense c.1394 p.R465T 0.987 NULL NULL - no_errors DONSON HGNC ENSG00000159147 45 20 30.77 33 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83829520 83829520 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 83829520 83829520 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.934 p.P312S 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 40 16 28.57 69 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83846971 83846971 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 83846971 83846971 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.861 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 9 7 43.75 39 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83846971 83846971 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 83846971 83846971 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.861 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 18 21 53.85 52 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83847173 83847173 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 83847173 83847173 C G SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.3412 p.Q1138E 0.986 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 45 26 36.62 62 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83848232 83848232 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 83848232 83848232 G C SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.4471 p.E1491Q 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 15 11 42.31 13 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83849973 83849973 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 83849973 83849973 G A SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.5266 p.E1756K 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 84 11 11.46 65 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83868325 83868325 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 83868325 83868325 G A SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.6781 p.D2261N 1.000 NULL pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 21 19 47.50 45 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83877984 83877984 + RNA SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 6 83877984 83877984 C T SNP DOPEY1 ENST00000484282 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DOPEY1 HGNC ENSG00000083097 59 9 13.24 38 0 0.00 DOPEY1 23033 genome.wustl.edu 37 6 83878179 83878180 + RNA INS - - T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 6 83878179 83878180 - T INS DOPEY1 ENST00000484282 human ensembl 70_37 +1 known rna NULL NULL 0.998:1.000 - - - no_errors DOPEY1 HGNC ENSG00000083097 13 2 13.33 10 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37591770 37591770 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 37591770 37591770 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.1230 p.Q410H 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 125 36 22.36 133 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37602874 37602874 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 21 37602874 37602874 C G SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.1792 p.P598A 0.982 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 42 16 27.59 35 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37605362 37605362 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 37605362 37605362 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.2611 p.D871N 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 31 15 32.61 29 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37617534 37617534 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 37617534 37617534 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.3256 p.E1086K 0.998 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 23 9 28.12 24 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37617942 37617942 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 37617942 37617942 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.3664 p.E1222K 0.991 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 22 6 21.43 30 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37618844 37618844 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 21 37618844 37618844 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.4566 p.L1522F 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 54 11 16.67 69 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37635876 37635876 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37635876 37635876 C A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.5348 p.S1783Y 0.001 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 15 10 40.00 28 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37642322 37642322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 37642322 37642322 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.5499 p.Q1833H 0.969 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 225 54 19.35 306 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37664501 37664501 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37664501 37664501 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6615 p.R2205S 0.999 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 105 29 21.64 144 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37664501 37664501 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37664501 37664501 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6615 p.R2205S 0.999 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 35 11 23.91 33 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37665628 37665628 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37665628 37665628 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6656 p.S2219N 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 10 7 41.18 33 0 0.00 DOPEY2 9980 genome.wustl.edu 37 21 37665756 37665756 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 37665756 37665756 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6784 p.A2262T 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 30 13 30.23 38 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2210818 2210818 + Nonsense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 19 2210818 2210818 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known nonsense c.1315 p.Q439* 0.999 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 7 7 50.00 46 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2217769 2217769 + Splice_Site SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 2217769 2217769 A G SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known splice_site c.2545-2 e22-2 1.000 - - - no_errors DOT1L HGNC ENSG00000104885 42 5 10.64 52 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2225393 2225393 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 2225393 2225393 G C SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3603 p.E1201D 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 58 41 41.41 56 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2226332 2226332 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 2226332 2226332 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3812 p.S1271F 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 10 2 16.67 15 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2226517 2226517 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2226517 2226517 G A SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3997 p.D1333N 0.955 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 47 27 36.49 57 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2226747 2226747 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 2226747 2226747 G T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.4227 p.K1409N 0.921 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 27 4 12.90 23 0 0.00 DOT1L 84444 genome.wustl.edu 37 19 2226837 2226837 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 2226837 2226837 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known silent c.4317 p.L1439 0.764 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 15 10 40.00 34 0 0.00 DPAGT1 1798 genome.wustl.edu 37 11 118968001 118968001 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 118968001 118968001 C G SNP DPAGT1 ENST00000354202 human ensembl 70_37 -1 known missense c.1012 p.E338Q 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 61 15 19.74 80 0 0.00 DPCD 25911 genome.wustl.edu 37 10 103368658 103368658 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103368658 103368658 G A SNP DPCD ENST00000370151 human ensembl 70_37 +1 known silent c.471 p.L157 1.000 NULL NULL - no_errors DPCD HGNC ENSG00000166171 22 12 35.29 22 0 0.00 DPCD 25911 genome.wustl.edu 37 10 103368688 103368688 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103368688 103368688 C T SNP DPCD ENST00000370151 human ensembl 70_37 +1 known silent c.501 p.I167 0.991 NULL NULL - no_errors DPCD HGNC ENSG00000166171 15 7 31.82 44 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30916512 30916512 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 30916512 30916512 C T SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.271 p.R91C 0.005 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 43 9 17.31 49 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30917085 30917085 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30917085 30917085 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.844 p.L282V 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 28 8 22.22 36 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30917485 30917485 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30917485 30917485 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel nonsense c.1244 p.S415* 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 46 28 37.84 61 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30917500 30917500 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 30917500 30917500 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1259 p.S420C 0.005 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 55 30 35.29 60 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30917602 30917602 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 30917602 30917602 C T SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1361 p.T454I 0.002 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 81 27 25.00 83 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30918216 30918216 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30918216 30918216 G A SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1975 p.E659K 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 46 59 56.19 110 0 0.00 DPCR1 135656 genome.wustl.edu 37 6 30920820 30920820 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 30920820 30920820 G A SNP DPCR1 ENST00000304311 human ensembl 70_37 +1 known missense c.634 p.G212S 0.569 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 43 31 41.89 65 0 0.00 DPEP2 64174 genome.wustl.edu 37 16 68023268 68023268 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 68023268 68023268 G C SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.1028 p.S343C 0.999 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 52 14 21.21 38 0 0.00 DPEP2 64174 genome.wustl.edu 37 16 68024864 68024864 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 68024864 68024864 C T SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.769 p.V257I 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 69 43 38.39 28 0 0.00 DPEP2 64174 genome.wustl.edu 37 16 68026017 68026017 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 68026017 68026017 C T SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.470 p.R157H 0.001 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 165 27 14.06 191 0 0.00 DPEP2 64174 genome.wustl.edu 37 16 68026435 68026435 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 68026435 68026435 C G SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.368 p.R123T 0.976 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 39 20 33.90 77 0 0.00 DPEP3 64180 genome.wustl.edu 37 16 68009858 68009858 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 68009858 68009858 G A SNP DPEP3 ENST00000268793 human ensembl 70_37 -1 known missense c.1352 p.P451L 0.952 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 79 54 40.60 90 0 0.00 DPF2 5977 genome.wustl.edu 37 11 65112088 65112088 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65112088 65112088 G C SNP DPF2 ENST00000252268 human ensembl 70_37 +1 novel missense c.675 p.Q225H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors DPF2 HGNC ENSG00000133884 14 20 58.82 38 0 0.00 DPF3 8110 genome.wustl.edu 37 14 73140900 73140900 + RNA SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 73140900 73140900 A G SNP DPF3 ENST00000554594 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DPF3 HGNC ENSG00000205683 29 8 21.62 27 0 0.00 DPF3 8110 genome.wustl.edu 37 14 73190406 73190406 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 73190406 73190406 C T SNP DPF3 ENST00000366353 human ensembl 70_37 -1 known missense c.625 p.E209K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 171 44 20.47 187 0 0.00 DPF3 8110 genome.wustl.edu 37 14 73238501 73238501 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 73238501 73238501 G A SNP DPF3 ENST00000366353 human ensembl 70_37 -1 known nonsense c.298 p.Q100* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 45 10 18.18 59 0 0.00 DPH2 1802 genome.wustl.edu 37 1 44436297 44436297 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 44436297 44436297 G T SNP DPH2 ENST00000255108 human ensembl 70_37 +1 known missense c.177 p.L59F 0.978 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 30 4 11.76 21 0 0.00 DPH2 1802 genome.wustl.edu 37 1 44437211 44437211 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 44437211 44437211 G C SNP DPH2 ENST00000255108 human ensembl 70_37 +1 known missense c.637 p.E213Q 1.000 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 48 13 21.31 61 0 0.00 DPH3 285381 genome.wustl.edu 37 3 16306188 16306188 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 16306188 16306188 G A SNP DPH3 ENST00000285082 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors DPH3 HGNC ENSG00000154813 19 21 50.00 53 0 0.00 DPM2 8818 genome.wustl.edu 37 9 130698034 130698034 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130698034 130698034 C A SNP DPM2 ENST00000314392 human ensembl 70_37 -1 known silent c.222 p.L74 1.000 pfam_DPM2 pfam_DPM2 - no_errors DPM2 HGNC ENSG00000136908 22 17 43.59 29 0 0.00 DPM3 54344 genome.wustl.edu 37 1 155112441 155112441 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155112441 155112441 G A SNP DPM3 ENST00000368399 human ensembl 70_37 -1 known silent c.366 p.F122 1.000 NULL pfam_DPM3 - no_errors DPM3 HGNC ENSG00000179085 40 20 33.33 51 0 0.00 DPP10 57628 genome.wustl.edu 37 2 116101413 116101413 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 116101413 116101413 G T SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known nonsense c.208 p.E70* 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 19 14 42.42 40 0 0.00 DPP10 57628 genome.wustl.edu 37 2 116257125 116257125 + Missense_Mutation SNP T T A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 116257125 116257125 T A SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.323 p.I108N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 29 19 39.58 58 0 0.00 DPP10 57628 genome.wustl.edu 37 2 116538475 116538475 + Missense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 116538475 116538475 C G SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.1399 p.R467G 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 30 15 33.33 58 0 0.00 DPP10 57628 genome.wustl.edu 37 2 116593781 116593781 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 116593781 116593781 C T SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.2011 p.L671F 0.255 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 26 9 25.71 27 0 0.00 DPP3 10072 genome.wustl.edu 37 11 66264946 66264946 + Nonsense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 66264946 66264946 C T SNP DPP3 ENST00000360510 human ensembl 70_37 +1 known nonsense c.1876 p.Q626* 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 38 6 13.64 52 0 0.00 DPP3 10072 genome.wustl.edu 37 11 66276797 66276797 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 66276797 66276797 G A SNP DPP3 ENST00000539085 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DPP3 HGNC ENSG00000254986 34 12 26.09 46 0 0.00 DPP4 1803 genome.wustl.edu 37 2 162851875 162851875 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 162851875 162851875 G T SNP DPP4 ENST00000360534 human ensembl 70_37 -1 known missense c.2060 p.T687K 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 25 3 10.71 38 0 0.00 DPP4 1803 genome.wustl.edu 37 2 162929996 162929996 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 162929996 162929996 T C SNP DPP4 ENST00000360534 human ensembl 70_37 -1 known missense c.7 p.T3A 0.995 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 23 11 32.35 30 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154237635 154237635 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 154237635 154237635 G A SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.476 p.R159K 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 8 12 60.00 16 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154379552 154379552 + Missense_Mutation SNP T T G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 154379552 154379552 T G SNP DPP6 ENST00000406326 human ensembl 70_37 +1 putative missense c.820 p.C274G 0.006 NULL NULL - no_errors DPP6 HGNC ENSG00000130226 28 6 17.65 32 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154379724 154379724 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 154379724 154379724 C G SNP DPP6 ENST00000406326 human ensembl 70_37 +1 putative missense c.992 p.S331W 0.003 NULL NULL - no_errors DPP6 HGNC ENSG00000130226 64 22 25.29 112 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154379779 154379779 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 154379779 154379779 G C SNP DPP6 ENST00000406326 human ensembl 70_37 +1 putative missense c.1047 p.Q349H 0.000 NULL NULL - no_errors DPP6 HGNC ENSG00000130226 10 6 37.50 19 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154429554 154429554 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 154429554 154429554 A C SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known silent c.651 p.G217 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 20 8 28.57 68 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154519587 154519587 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 154519587 154519587 G T SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.873 p.W291C 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 21 3 12.50 38 0 0.00 DPP6 1804 genome.wustl.edu 37 7 154561192 154561192 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 154561192 154561192 G A SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.949 p.A317T 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 19 11 36.67 61 0 0.00 DPP7 29952 genome.wustl.edu 37 9 140006564 140006564 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 140006564 140006564 C T SNP DPP7 ENST00000371579 human ensembl 70_37 -1 known silent c.1050 p.Q350 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 78 12 13.33 71 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65743243 65743243 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 65743243 65743243 C G SNP DPP8 ENST00000560048 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DPP8 HGNC ENSG00000074603 8 4 33.33 11 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65743356 65743356 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65743356 65743356 C G SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.2555 p.G852A 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 4 2 33.33 14 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65744405 65744405 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 65744405 65744405 G C SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.2355 p.I785M 1.000 pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 15 16 50.00 33 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65756239 65756239 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 65756239 65756239 G A SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.1879 p.L627F 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 35 6 14.63 30 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65759487 65759487 + Nonsense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 65759487 65759487 G C SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known nonsense c.1659 p.Y553* 0.289 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 27 12 30.77 59 0 0.00 DPP8 54878 genome.wustl.edu 37 15 65759495 65759495 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 65759495 65759495 G A SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.1651 p.H551Y 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 27 11 28.95 34 0 0.00 DPP9 91039 genome.wustl.edu 37 19 4702154 4702154 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 4702154 4702154 G C SNP DPP9 ENST00000262960 human ensembl 70_37 -1 known silent c.897 p.L299 0.003 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 18 9 33.33 32 0 0.00 DPP9 91039 genome.wustl.edu 37 19 4702155 4702155 + Missense_Mutation SNP A A T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 4702155 4702155 A T SNP DPP9 ENST00000262960 human ensembl 70_37 -1 known missense c.896 p.L299H 0.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 17 9 33.33 32 0 0.00 DPP9 91039 genome.wustl.edu 37 19 4719937 4719937 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 4719937 4719937 C T SNP DPP9 ENST00000595940 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors DPP9 HGNC ENSG00000142002 51 10 16.39 32 0 0.00 DPPA3 359787 genome.wustl.edu 37 12 7868012 7868012 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 7868012 7868012 G A SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known missense c.316 p.G106R 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 70 21 23.08 73 0 0.00 DPPA3 359787 genome.wustl.edu 37 12 7868017 7868017 + Silent SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 7868017 7868017 T G SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known silent c.321 p.V107 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 17 31 64.58 89 0 0.00 DPPA3 359787 genome.wustl.edu 37 12 7868018 7868018 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 7868018 7868018 C T SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known missense c.322 p.R108C 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 17 31 64.58 88 0 0.00 DPPA3P2 400206 genome.wustl.edu 37 14 36840868 36840868 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 36840868 36840868 G A SNP DPPA3P2 ENST00000557188 human ensembl 70_37 +1 known rna NULL NULL 0.117 - - - no_errors DPPA3P2 HGNC ENSG00000188831 53 15 22.06 78 0 0.00 DPPA3P2 400206 genome.wustl.edu 37 14 36841205 36841205 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 36841205 36841205 C A SNP DPPA3P2 ENST00000557188 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors DPPA3P2 HGNC ENSG00000188831 23 9 28.12 24 0 0.00 DPPA4 55211 genome.wustl.edu 37 3 109049375 109049375 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 109049375 109049375 G T SNP DPPA4 ENST00000335658 human ensembl 70_37 -1 known silent c.675 p.A225 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 30 7 18.92 32 0 0.00 DPPA4 55211 genome.wustl.edu 37 3 109056348 109056348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 109056348 109056348 G C SNP DPPA4 ENST00000335658 human ensembl 70_37 -1 known missense c.17 p.A6G 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 58 11 15.94 32 0 0.00 DPRX 503834 genome.wustl.edu 37 19 54137881 54137881 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54137881 54137881 A C SNP DPRX ENST00000376650 human ensembl 70_37 +1 known missense c.125 p.N42T 0.005 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DPRX HGNC ENSG00000204595 19 6 24.00 52 0 0.00 DPRX 503834 genome.wustl.edu 37 19 54140205 54140205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54140205 54140205 C G SNP DPRX ENST00000376650 human ensembl 70_37 +1 known missense c.539 p.S180C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DPRX HGNC ENSG00000204595 27 17 38.64 34 0 0.00 DPT 1805 genome.wustl.edu 37 1 168683560 168683560 + Silent SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 168683560 168683560 C A SNP DPT ENST00000367817 human ensembl 70_37 -1 known silent c.330 p.G110 0.089 NULL NULL - no_errors DPT HGNC ENSG00000143196 17 4 19.05 19 0 0.00 DPY19L1 23333 genome.wustl.edu 37 7 34971262 34971262 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 34971262 34971262 C T SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known missense c.1951 p.V651M 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 53 7 11.67 61 0 0.00 DPY19L1 23333 genome.wustl.edu 37 7 34979922 34979922 + Silent SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 34979922 34979922 A G SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known silent c.1488 p.F496 0.814 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 81 54 40.00 99 0 0.00 DPY19L1 23333 genome.wustl.edu 37 7 35009108 35009108 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 35009108 35009108 G A SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known silent c.732 p.L244 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 24 4 14.29 34 0 0.00 DPY19L1 23333 genome.wustl.edu 37 7 35050084 35050084 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 35050084 35050084 A T SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known missense c.541 p.L181I 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 22 3 12.00 26 0 0.00 DPY19L2 283417 genome.wustl.edu 37 12 64041078 64041078 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 64041078 64041078 G A SNP DPY19L2 ENST00000324472 human ensembl 70_37 -1 known missense c.656 p.T219I 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 67 9 11.69 64 0 0.00 DPY19L2 283417 genome.wustl.edu 37 12 64061950 64061950 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 64061950 64061950 T G SNP DPY19L2 ENST00000324472 human ensembl 70_37 -1 known missense c.224 p.K75T 0.000 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 47 19 28.79 81 0 0.00 DPY19L2P1 554236 genome.wustl.edu 37 7 35120233 35120233 + RNA SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 35120233 35120233 A T SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 26 21 43.75 24 0 0.00 DPY19L2P1 554236 genome.wustl.edu 37 7 35131356 35131357 + RNA DEL TG TG - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 35131356 35131357 TG - DEL DPY19L2P1 ENST00000436258 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 8 5 38.46 18 0 0.00 DPY19L2P1 554236 genome.wustl.edu 37 7 35131375 35131375 + RNA SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 35131375 35131375 C G SNP DPY19L2P1 ENST00000436258 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 13 3 18.75 19 0 0.00 DPY19L2P1 554236 genome.wustl.edu 37 7 35161205 35161205 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 35161205 35161205 G A SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 18 19 51.35 40 0 0.00 DPY19L2P1 554236 genome.wustl.edu 37 7 35189789 35189789 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 35189789 35189789 C T SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 77 37 32.46 87 0 0.00 DPY19L3 147991 genome.wustl.edu 37 19 32949288 32949288 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 32949288 32949288 G C SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known missense c.1195 p.E399Q 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 28 15 34.88 37 0 0.00 DPY19L3 147991 genome.wustl.edu 37 19 32954774 32954774 + Splice_Site SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 32954774 32954774 G C SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known splice_site c.1446-1 e13-1 1.000 - - - no_errors DPY19L3 HGNC ENSG00000178904 292 43 12.80 411 0 0.00 DPY19L3 147991 genome.wustl.edu 37 19 32973040 32973040 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 32973040 32973040 G A SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known missense c.2045 p.R682H 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 23 30 56.60 40 0 0.00 DPY19L4 286148 genome.wustl.edu 37 8 95738627 95738627 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 95738627 95738627 G A SNP DPY19L4 ENST00000414645 human ensembl 70_37 +1 known missense c.85 p.E29K 1.000 NULL pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 64 26 28.89 82 0 0.00 DPY19L4 286148 genome.wustl.edu 37 8 95789995 95789995 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 8 95789995 95789995 C A SNP DPY19L4 ENST00000414645 human ensembl 70_37 +1 known missense c.1556 p.T519N 0.997 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 78 24 23.53 95 0 0.00 DPY30 84661 genome.wustl.edu 37 2 32254698 32254698 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 32254698 32254698 G C SNP DPY30 ENST00000422413 human ensembl 70_37 -1 known missense c.192 p.I64M 1.000 pfam_Dpy-30_motif pfam_Dpy-30_motif - no_errors DPY30 HGNC ENSG00000162961 51 25 32.47 55 0 0.00 DPYD 1806 genome.wustl.edu 37 1 97544576 97544576 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 97544576 97544576 C A SNP DPYD ENST00000370192 human ensembl 70_37 -1 known nonsense c.3034 p.E1012* 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 51 20 28.17 68 0 0.00 DPYD 1806 genome.wustl.edu 37 1 97547945 97547945 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 97547945 97547945 C T SNP DPYD ENST00000370192 human ensembl 70_37 -1 known missense c.2848 p.E950K 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 24 12 33.33 72 0 0.00 DPYD 1806 genome.wustl.edu 37 1 97658667 97658667 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 97658667 97658667 C T SNP DPYD ENST00000370192 human ensembl 70_37 -1 known silent c.2580 p.Q860 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 85 12 12.37 83 0 0.00 DPYD 1806 genome.wustl.edu 37 1 98144663 98144663 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 98144663 98144663 A C SNP DPYD ENST00000370192 human ensembl 70_37 -1 known missense c.838 p.F280V 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 12 7 36.84 16 0 0.00 DPYS 1807 genome.wustl.edu 37 8 105456635 105456635 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105456635 105456635 T C SNP DPYS ENST00000351513 human ensembl 70_37 -1 known missense c.634 p.T212A 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 15 9 37.50 40 0 0.00 DPYSL2 1808 genome.wustl.edu 37 8 26441409 26441409 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 8 26441409 26441409 C T SNP DPYSL2 ENST00000311151 human ensembl 70_37 +1 known missense c.223 p.R75C 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 24 28 53.85 78 0 0.00 DPYSL2 1808 genome.wustl.edu 37 8 26477451 26477451 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 26477451 26477451 C T SNP DPYSL2 ENST00000523690 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DPYSL2 HGNC ENSG00000092964 47 20 29.85 21 0 0.00 DPYSL3 1809 genome.wustl.edu 37 5 146775188 146775188 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 146775188 146775188 G A SNP DPYSL3 ENST00000398514 human ensembl 70_37 -1 known missense c.1558 p.R520W 0.702 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 53 7 11.67 36 0 0.00 DPYSL3 1809 genome.wustl.edu 37 5 146792219 146792219 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 146792219 146792219 C T SNP DPYSL3 ENST00000398514 human ensembl 70_37 -1 known silent c.573 p.L191 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 13 13 50.00 18 0 0.00 DPYSL3 1809 genome.wustl.edu 37 5 146795360 146795360 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 146795360 146795360 C G SNP DPYSL3 ENST00000398514 human ensembl 70_37 -1 known missense c.390 p.K130N 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 41 5 10.87 43 0 0.00 DPYSL5 56896 genome.wustl.edu 37 2 27150209 27150209 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27150209 27150209 G A SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.509 p.R170Q 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 30 31 50.82 61 0 0.00 DPYSL5 56896 genome.wustl.edu 37 2 27164947 27164947 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 27164947 27164947 C T SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1219 p.P407S 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 69 27 27.55 67 0 0.00 DPYSL5 56896 genome.wustl.edu 37 2 27165488 27165488 + Missense_Mutation SNP T T C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 27165488 27165488 T C SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1310 p.L437P 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 16 14 46.67 30 0 0.00 DPYSL5 56896 genome.wustl.edu 37 2 27165544 27165544 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 27165544 27165544 G A SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1366 p.E456K 0.999 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 50 8 13.79 52 0 0.00 DPYSL5 56896 genome.wustl.edu 37 2 27169819 27169819 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27169819 27169819 C T SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1651 p.R551W 0.999 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 59 45 42.86 84 0 0.00 DQX1 165545 genome.wustl.edu 37 2 74746333 74746333 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 74746333 74746333 C A SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known nonsense c.1831 p.G611* 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 34 21 38.18 71 0 0.00 DQX1 165545 genome.wustl.edu 37 2 74751187 74751187 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 74751187 74751187 C T SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known missense c.679 p.E227K 0.003 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 32 23 41.82 38 0 0.00 DQX1 165545 genome.wustl.edu 37 2 74751187 74751187 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 74751187 74751187 C T SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known missense c.679 p.E227K 0.003 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 90 29 24.37 173 0 0.00 DR1 1810 genome.wustl.edu 37 1 93812311 93812311 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 93812311 93812311 G C SNP DR1 ENST00000370267 human ensembl 70_37 +1 known missense c.109 p.E37Q 1.000 pfam_CBFA_NFYB_domain,superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors DR1 HGNC ENSG00000117505 99 13 11.61 94 0 0.00 DRD1 1812 genome.wustl.edu 37 5 174869677 174869677 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 174869677 174869677 G A SNP DRD1 ENST00000329144 human ensembl 70_37 -1 known silent c.426 p.I142 0.965 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt - no_errors DRD1 HGNC ENSG00000184845 25 17 40.48 75 0 0.00 DRD1 1812 genome.wustl.edu 37 5 174870004 174870004 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 174870004 174870004 G C SNP DRD1 ENST00000329144 human ensembl 70_37 -1 known silent c.99 p.L33 0.994 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt - no_errors DRD1 HGNC ENSG00000184845 14 6 30.00 22 0 0.00 DRD2 1813 genome.wustl.edu 37 11 113283564 113283564 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 113283564 113283564 G C SNP DRD2 ENST00000355319 human ensembl 70_37 -1 known silent c.858 p.L286 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 37 28 42.42 59 0 0.00 DRD3 1814 genome.wustl.edu 37 3 113850099 113850099 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 113850099 113850099 G A SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known missense c.872 p.A291V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 62 21 25.30 103 0 0.00 DRD3 1814 genome.wustl.edu 37 3 113850143 113850143 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113850143 113850143 C G SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known missense c.828 p.L276F 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 113 25 18.12 54 0 0.00 DRD3 1814 genome.wustl.edu 37 3 113866346 113866346 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 113866346 113866346 G T SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known silent c.442 p.R148 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 43 17 28.33 74 0 0.00 DRD5 1816 genome.wustl.edu 37 4 9783770 9783770 + Silent SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 9783770 9783770 A G SNP DRD5 ENST00000304374 human ensembl 70_37 +1 known silent c.117 p.S39 0.892 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors DRD5 HGNC ENSG00000169676 17 4 19.05 14 0 0.00 DRD5 1816 genome.wustl.edu 37 4 9784379 9784379 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 9784379 9784379 C T SNP DRD5 ENST00000304374 human ensembl 70_37 +1 known silent c.726 p.I242 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors DRD5 HGNC ENSG00000169676 40 27 40.30 68 0 0.00 DRG1 4733 genome.wustl.edu 37 22 31823084 31823084 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 31823084 31823084 C T SNP DRG1 ENST00000331457 human ensembl 70_37 +1 known missense c.920 p.S307F 0.983 pfam_TGS pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 180 45 19.91 172 0 0.00 DROSHA 29102 genome.wustl.edu 37 5 31409384 31409384 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 31409384 31409384 C G SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known missense c.3723 p.M1241I 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 14 15 51.72 19 0 0.00 DROSHA 29102 genome.wustl.edu 37 5 31466361 31466361 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 31466361 31466361 C T SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known silent c.2394 p.V798 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 81 27 25.00 97 0 0.00 DROSHA 29102 genome.wustl.edu 37 5 31504711 31504711 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 31504711 31504711 G T SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known missense c.1619 p.A540E 0.998 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 33 4 10.81 35 0 0.00 DROSHA 29102 genome.wustl.edu 37 5 31526312 31526313 + Frame_Shift_Del DEL CT CT - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 31526312 31526313 CT - DEL DROSHA ENST00000344624 human ensembl 70_37 -1 known frame_shift_del c.728_727 p.R243fs 1.000:0.998 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 51 6 10.53 39 0 0.00 DRP2 1821 genome.wustl.edu 37 X 100492679 100492679 + Missense_Mutation SNP T T A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 100492679 100492679 T A SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.353 p.L118H 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 37 17 31.48 75 0 0.00 DRP2 1821 genome.wustl.edu 37 X 100503170 100503170 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 100503170 100503170 C T SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.1345 p.H449Y 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 80 10 11.11 76 0 0.00 DRP2 1821 genome.wustl.edu 37 X 100510235 100510235 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100510235 100510235 G T SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.2243 p.S748I 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 17 10 37.04 32 0 0.00 DSC1 1823 genome.wustl.edu 37 18 28710590 28710590 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 28710590 28710590 G C SNP DSC1 ENST00000257198 human ensembl 70_37 -1 known missense c.2572 p.L858V 0.000 pfam_Cadherin_cytoplasmic-dom,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin - no_errors DSC1 HGNC ENSG00000134765 21 8 27.59 59 0 0.00 DSC2 1824 genome.wustl.edu 37 18 28669412 28669412 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 28669412 28669412 T G SNP DSC2 ENST00000280904 human ensembl 70_37 -1 known missense c.620 p.E207A 0.012 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 35 7 16.67 62 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41385099 41385099 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 21 41385099 41385099 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known silent c.5901 p.A1967 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 29 8 21.62 37 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41447003 41447003 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 21 41447003 41447003 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.4849 p.R1617W 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 75 10 11.76 119 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41496132 41496132 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 41496132 41496132 G C SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.3686 p.P1229R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 25 39 60.94 75 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41516627 41516627 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 21 41516627 41516627 A G SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.3050 p.I1017T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 26 11 29.73 41 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41561046 41561046 + Nonsense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 41561046 41561046 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known nonsense c.2476 p.R826* 0.845 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 39 31 43.06 97 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 41684283 41684283 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 41684283 41684283 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.1787 p.P596L 0.999 pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 23 5 17.86 17 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 42080507 42080507 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 21 42080507 42080507 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known silent c.234 p.N78 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 42 37 46.84 74 0 0.00 DSCAM 1826 genome.wustl.edu 37 21 42080577 42080577 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 21 42080577 42080577 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.164 p.T55I 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 32 8 20.00 61 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117303882 117303882 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 117303882 117303882 G C SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.5178 p.I1726M 0.853 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 41 14 25.45 72 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117310107 117310107 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 117310107 117310107 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.4199 p.R1400Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 35 4 10.26 53 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117329618 117329618 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 117329618 117329618 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known silent c.3600 p.G1200 0.902 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 63 47 42.73 84 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117342593 117342593 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 117342593 117342593 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.3124 p.E1042K 0.997 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 34 14 29.17 55 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117351190 117351190 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 117351190 117351190 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2933 p.T978M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 1 7 87.50 26 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117351190 117351190 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 117351190 117351190 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2933 p.T978M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 3 20 86.96 22 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117374667 117374667 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 11 117374667 117374667 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2432 p.S811L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 99 20 16.67 98 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117387317 117387317 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 11 117387317 117387317 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.1828 p.R610C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 18 42 70.00 86 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117392107 117392107 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 117392107 117392107 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known silent c.1131 p.V377 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 34 13 27.66 49 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117395799 117395799 + Splice_Site SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 117395799 117395799 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known splice_site c.839-1 e5-1 1.000 - - - no_errors DSCAML1 HGNC ENSG00000177103 33 10 23.26 31 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117651364 117651364 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 117651364 117651364 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.388 p.V130M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 32 12 27.27 51 0 0.00 DSCAML1 57453 genome.wustl.edu 37 11 117667944 117667944 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 117667944 117667944 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 10 10 50.00 20 0 0.00 RIPPLY3 53820 genome.wustl.edu 37 21 38380494 38380494 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38380494 38380494 G C SNP DSCR6 ENST00000329553 human ensembl 70_37 +1 known missense c.142 p.D48H 0.038 NULL NULL - no_errors DSCR6 HGNC ENSG00000183145 32 11 25.58 21 0 0.00 RIPPLY3 53820 genome.wustl.edu 37 21 38390286 38390286 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 38390286 38390286 G A SNP DSCR6 ENST00000329553 human ensembl 70_37 +1 known missense c.352 p.E118K 0.009 NULL NULL - no_errors DSCR6 HGNC ENSG00000183145 15 10 40.00 32 0 0.00 DSCR9 257203 genome.wustl.edu 37 21 38593057 38593057 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 38593057 38593057 G T SNP DSCR9 ENST00000454482 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR9 HGNC ENSG00000230366 28 5 15.15 33 0 0.00 DSCR9 257203 genome.wustl.edu 37 21 38593674 38593674 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 21 38593674 38593674 G A SNP DSCR9 ENST00000454482 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors DSCR9 HGNC ENSG00000230366 60 23 27.71 57 0 0.00 DSE 29940 genome.wustl.edu 37 6 116720653 116720653 + Silent SNP C C G TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 116720653 116720653 C G SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.297 p.S99 1.000 superfamily_Chondroitin_lyas superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 9 12 57.14 31 0 0.00 DSE 29940 genome.wustl.edu 37 6 116752140 116752140 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 116752140 116752140 T C SNP DSE ENST00000537543 human ensembl 70_37 +1 known missense c.751 p.W251R 1.000 superfamily_Chondroitin_lyas superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 66 35 34.65 93 0 0.00 DSE 29940 genome.wustl.edu 37 6 116754694 116754694 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 116754694 116754694 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1156 p.L386 0.995 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 30 15 33.33 46 0 0.00 DSE 29940 genome.wustl.edu 37 6 116756828 116756828 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 116756828 116756828 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1254 p.V418 0.855 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 13 9 40.91 25 0 0.00 DSE 29940 genome.wustl.edu 37 6 116757050 116757050 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 116757050 116757050 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1476 p.Y492 0.009 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 20 22 52.38 31 0 0.00 DSE 29940 genome.wustl.edu 37 6 116757050 116757050 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 116757050 116757050 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1476 p.Y492 0.009 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 30 20 40.00 76 0 0.00 DSE 29940 genome.wustl.edu 37 6 116757460 116757460 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 116757460 116757460 G A SNP DSE ENST00000537543 human ensembl 70_37 +1 known missense c.1886 p.R629K 0.747 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 43 12 21.82 34 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65178784 65178784 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 65178784 65178784 C G SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.3092 p.G1031A 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 12 11 47.83 22 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65178899 65178899 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 65178899 65178899 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2977 p.E993K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 32 10 23.81 50 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65178949 65178949 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 65178949 65178949 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2927 p.S976Y 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 15 12 44.44 39 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65179061 65179061 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 65179061 65179061 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2815 p.D939N 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 25 11 30.56 39 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65179459 65179459 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 65179459 65179459 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2417 p.S806Y 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 18 6 25.00 27 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65180154 65180154 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 65180154 65180154 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.1722 p.M574I 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 17 17 50.00 43 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65180658 65180658 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 65180658 65180658 G A SNP DSEL ENST00000310045 human ensembl 70_37 -1 known silent c.1218 p.L406 0.610 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 33 73 68.87 57 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65181691 65181691 + Missense_Mutation SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 65181691 65181691 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.185 p.P62H 0.050 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 120 62 34.07 184 0 0.00 DSEL 92126 genome.wustl.edu 37 18 65181691 65181691 + Missense_Mutation SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 65181691 65181691 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.185 p.P62H 0.050 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 58 29 33.33 36 0 0.00 DSG1 1828 genome.wustl.edu 37 18 28911707 28911707 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 28911707 28911707 G A SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known silent c.561 p.P187 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC ENSG00000134760 20 18 47.37 53 0 0.00 DSG1 1828 genome.wustl.edu 37 18 28923956 28923956 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 28923956 28923956 C T SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known missense c.1889 p.S630L 0.892 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC ENSG00000134760 15 3 16.67 15 0 0.00 DSG1 1828 genome.wustl.edu 37 18 28926069 28926069 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 28926069 28926069 C G SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known missense c.2008 p.Q670E 0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC ENSG00000134760 19 9 32.14 29 0 0.00 DSG2 1829 genome.wustl.edu 37 18 29126264 29126264 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 29126264 29126264 C T SNP DSG2 ENST00000261590 human ensembl 70_37 +1 known missense c.2915 p.S972F 0.059 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG2 HGNC ENSG00000046604 29 18 38.30 60 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29036985 29036985 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 29036985 29036985 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.114 p.M38I 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 7 7 50.00 10 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29038498 29038498 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 18 29038498 29038498 G C SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.307 p.D103H 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 24 3 11.11 32 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29040886 29040886 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29040886 29040886 G T SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.775 p.D259Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 16 11 40.74 59 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29045334 29045334 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 18 29045334 29045334 C G SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.1325 p.A442G 0.992 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 2 26 92.86 31 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29045341 29045341 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 18 29045341 29045341 C G SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.1332 p.I444M 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 2 24 92.31 29 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29045395 29045395 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 18 29045395 29045395 C T SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known silent c.1386 p.I462 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 7 31 81.58 26 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29046629 29046629 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29046629 29046629 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known silent c.1548 p.L516 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 148 42 22.11 221 1 0.45 DSG3 1830 genome.wustl.edu 37 18 29049131 29049131 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29049131 29049131 G C SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.1716 p.Q572H 0.082 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 190 60 24.00 262 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29049278 29049278 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 29049278 29049278 C A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known silent c.1863 p.I621 0.339 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 16 7 30.43 43 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29054363 29054363 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29054363 29054363 C T SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.2381 p.S794F 1.000 prints_Desmoglein pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 154 38 19.79 153 0 0.00 DSG3 1830 genome.wustl.edu 37 18 29056197 29056197 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 29056197 29056197 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.2974 p.E992K 0.942 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 21 5 19.23 31 0 0.00 DSG4 147409 genome.wustl.edu 37 18 28956917 28956917 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 18 28956917 28956917 C G SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.43 p.L15V 0.108 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ENSG00000175065 20 17 45.95 20 0 0.00 DSG4 147409 genome.wustl.edu 37 18 28983423 28983423 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 28983423 28983423 C T SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.1462 p.P488S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ENSG00000175065 47 18 27.69 76 0 0.00 DSG4 147409 genome.wustl.edu 37 18 28991196 28991196 + Missense_Mutation SNP A A T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 28991196 28991196 A T SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.2197 p.I733F 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ENSG00000175065 35 28 44.44 82 0 0.00 DSG4 147409 genome.wustl.edu 37 18 28991345 28991345 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 28991345 28991345 G A SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.2346 p.M782I 0.005 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ENSG00000175065 31 10 24.39 21 0 0.00 DSG4 147409 genome.wustl.edu 37 18 28993427 28993427 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 28993427 28993427 G C SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.3049 p.G1017R 0.997 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ENSG00000175065 125 45 26.32 198 0 0.00 DSN1 79980 genome.wustl.edu 37 20 35384117 35384117 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 35384117 35384117 G T SNP DSN1 ENST00000373745 human ensembl 70_37 -1 known missense c.841 p.Q281K 0.744 pfam_Mtw1_DSN1 pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ENSG00000149636 20 32 61.54 54 0 0.00 DSN1 79980 genome.wustl.edu 37 20 35390934 35390934 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 35390934 35390934 C T SNP DSN1 ENST00000373745 human ensembl 70_37 -1 known missense c.520 p.E174K 1.000 pfam_Mtw1_DSN1 pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ENSG00000149636 19 7 26.92 36 0 0.00 DSP 1832 genome.wustl.edu 37 6 7555992 7555996 + Frame_Shift_Del DEL TCCAG TCCAG - TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 TCCAG TCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 7555992 7555996 TCCAG - DEL DSP ENST00000379802 human ensembl 70_37 +1 known frame_shift_del c.212_216 p.I71fs 1.000:1.000:1.000:1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 24 7 22.58 21 0 0.00 DSP 1832 genome.wustl.edu 37 6 7559466 7559466 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 7559466 7559466 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.430 p.Q144E 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 16 16 50.00 62 0 0.00 DSP 1832 genome.wustl.edu 37 6 7566637 7566637 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 7566637 7566637 G C SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.967 p.E323Q 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 36 10 21.74 27 0 0.00 DSP 1832 genome.wustl.edu 37 6 7566688 7566688 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 7566688 7566688 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.1018 p.Q340E 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 16 5 23.81 26 0 0.00 DSP 1832 genome.wustl.edu 37 6 7572161 7572161 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 7572161 7572161 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.1990 p.Q664E 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 19 17 47.22 44 0 0.00 DSP 1832 genome.wustl.edu 37 6 7578090 7578090 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 7578090 7578090 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known nonsense c.2956 p.Q986* 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 21 12 36.36 41 0 0.00 DSP 1832 genome.wustl.edu 37 6 7580249 7580249 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 7580249 7580249 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.3826 p.Q1276E 0.999 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 19 7 26.92 30 0 0.00 DSP 1832 genome.wustl.edu 37 6 7580551 7580552 + Frame_Shift_Ins INS - - AG TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 7580551 7580552 - AG INS DSP ENST00000379802 human ensembl 70_37 +1 known frame_shift_ins c.4128_4129 p.I1376fs 1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 41 74 64.35 117 0 0.00 DSP 1832 genome.wustl.edu 37 6 7581095 7581095 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 7581095 7581095 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.4672 p.R1558W 0.036 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 77 24 23.76 129 0 0.00 DSP 1832 genome.wustl.edu 37 6 7581463 7581463 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 7581463 7581463 G A SNP DSP ENST00000379802 human ensembl 70_37 +1 known silent c.5040 p.L1680 0.984 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 1 8 88.89 18 0 0.00 DSP 1832 genome.wustl.edu 37 6 7582905 7582905 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7582905 7582905 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known nonsense c.5410 p.Q1804* 0.987 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 119 50 29.59 148 0 0.00 DSP 1832 genome.wustl.edu 37 6 7583547 7583547 + Missense_Mutation SNP A A G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 7583547 7583547 A G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.6052 p.I2018V 0.997 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 12 7 36.84 15 0 0.00 DSP 1832 genome.wustl.edu 37 6 7583774 7583774 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 7583774 7583774 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known silent c.6279 p.I2093 0.975 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 25 11 30.56 26 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88534379 88534379 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88534379 88534379 C G SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.1041 p.L347 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 21 8 27.59 33 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88534422 88534422 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 88534422 88534422 G T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known nonsense c.1084 p.E362* 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 4 4 50.00 16 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88536350 88536350 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 88536350 88536350 G A SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.2536 p.D846N 0.996 NULL NULL - no_errors DSPP HGNC ENSG00000152591 102 57 35.85 110 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88536886 88536886 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 88536886 88536886 C T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3072 p.S1024 0.076 NULL NULL - no_errors DSPP HGNC ENSG00000152591 42 5 10.64 54 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88536937 88536937 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88536937 88536937 T C SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3123 p.D1041 0.986 NULL NULL - no_errors DSPP HGNC ENSG00000152591 10 5 33.33 12 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88536937 88536937 + Silent SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88536937 88536937 T C SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3123 p.D1041 0.986 NULL NULL - no_errors DSPP HGNC ENSG00000152591 39 9 18.75 50 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88536999 88536999 + Missense_Mutation SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88536999 88536999 A G SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.3185 p.D1062G 0.993 NULL NULL - no_errors DSPP HGNC ENSG00000152591 64 8 11.11 77 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88537225 88537225 + Missense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 88537225 88537225 C A SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.3411 p.D1137E 0.941 NULL NULL - no_errors DSPP HGNC ENSG00000152591 22 6 21.43 20 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88537513 88537513 + Missense_Mutation SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 88537513 88537513 A C SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.3699 p.E1233D 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 41 10 19.61 30 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88537522 88537522 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 88537522 88537522 C T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3708 p.D1236 0.991 NULL NULL - no_errors DSPP HGNC ENSG00000152591 40 9 18.37 28 0 0.00 DSPP 1834 genome.wustl.edu 37 4 88537522 88537522 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 88537522 88537522 C T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3708 p.D1236 0.991 NULL NULL - no_errors DSPP HGNC ENSG00000152591 62 8 11.43 94 0 0.00 DST 667 genome.wustl.edu 37 6 56323951 56323951 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 56323951 56323951 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.23105 p.S7702F 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 23 35 60.34 40 0 0.00 DST 667 genome.wustl.edu 37 6 56324949 56324949 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 56324949 56324949 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.22970 p.R7657T 0.995 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 24 13 35.14 35 0 0.00 DST 667 genome.wustl.edu 37 6 56328484 56328484 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 56328484 56328484 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.22745 p.R7582Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 62 13 17.33 61 0 0.00 DST 667 genome.wustl.edu 37 6 56347645 56347645 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 56347645 56347645 T C SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.21145 p.S7049G 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 26 7 21.21 31 0 0.00 DST 667 genome.wustl.edu 37 6 56366458 56366458 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56366458 56366458 C A SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.19507 p.E6503* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 25 13 34.21 66 0 0.00 DST 667 genome.wustl.edu 37 6 56368830 56368830 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 56368830 56368830 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.19438 p.L6480F 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 58 18 23.68 43 0 0.00 DST 667 genome.wustl.edu 37 6 56374567 56374567 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 56374567 56374567 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.18792 p.Q6264H 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 16 12 42.86 36 0 0.00 DST 667 genome.wustl.edu 37 6 56382415 56382415 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 56382415 56382415 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.18040 p.D6014H 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 1 4 80.00 9 0 0.00 DST 667 genome.wustl.edu 37 6 56392496 56392496 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 56392496 56392496 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.17624 p.A5875V 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 25 4 13.79 46 0 0.00 DST 667 genome.wustl.edu 37 6 56417204 56417204 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56417204 56417204 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.16293 p.I5431 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 18 12 40.00 34 0 0.00 DST 667 genome.wustl.edu 37 6 56417462 56417462 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 56417462 56417462 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.16035 p.F5345 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 23 5 17.86 20 0 0.00 DST 667 genome.wustl.edu 37 6 56417638 56417638 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56417638 56417638 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.15859 p.Q5287E 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 20 20 50.00 31 0 0.00 DST 667 genome.wustl.edu 37 6 56418448 56418448 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56418448 56418448 G T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.15049 p.H5017N 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 40 19 32.20 46 0 0.00 DST 667 genome.wustl.edu 37 6 56437583 56437583 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 56437583 56437583 G T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.13423 p.P4475T 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 20 4 16.67 19 0 0.00 DST 667 genome.wustl.edu 37 6 56443711 56443711 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 56443711 56443711 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.12835 p.Q4279* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 53 21 28.38 82 0 0.00 DST 667 genome.wustl.edu 37 6 56458793 56458793 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 56458793 56458793 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.12301 p.L4101 0.996 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 76 10 11.63 78 0 0.00 DST 667 genome.wustl.edu 37 6 56458919 56458919 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 56458919 56458919 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.12175 p.E4059Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 193 46 19.09 273 0 0.00 DST 667 genome.wustl.edu 37 6 56458919 56458919 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 56458919 56458919 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.12175 p.E4059Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 47 7 12.96 26 0 0.00 DST 667 genome.wustl.edu 37 6 56463367 56463367 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 56463367 56463367 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.11742 p.K3914N 0.621 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 27 3 10.00 24 0 0.00 DST 667 genome.wustl.edu 37 6 56465020 56465020 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56465020 56465020 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known splice_site c.11449-1 e45-1 1.000 - - - no_errors DST HGNC ENSG00000151914 30 22 42.31 48 0 0.00 DST 667 genome.wustl.edu 37 6 56468158 56468158 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 56468158 56468158 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10903 p.E3635K 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 24 12 33.33 35 0 0.00 DST 667 genome.wustl.edu 37 6 56469029 56469029 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 56469029 56469029 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10298 p.R3433T 0.981 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 21 18 46.15 20 0 0.00 DST 667 genome.wustl.edu 37 6 56469029 56469029 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56469029 56469029 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10298 p.R3433T 0.981 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 20 16 44.44 19 0 0.00 DST 667 genome.wustl.edu 37 6 56469153 56469153 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469153 56469153 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10174 p.E3392Q 0.002 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 23 8 25.00 14 0 0.00 DST 667 genome.wustl.edu 37 6 56469891 56469891 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469891 56469891 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.9436 p.D3146H 0.008 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 16 8 33.33 17 0 0.00 DST 667 genome.wustl.edu 37 6 56469903 56469903 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469903 56469903 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.9424 p.E3142K 0.004 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 14 9 39.13 20 0 0.00 DST 667 genome.wustl.edu 37 6 56471441 56471441 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 56471441 56471441 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.7886 p.S2629* 0.001 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 39 24 38.10 51 0 0.00 DST 667 genome.wustl.edu 37 6 56471763 56471763 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 56471763 56471763 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.7564 p.E2522Q 0.004 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 33 19 36.54 32 0 0.00 DST 667 genome.wustl.edu 37 6 56472305 56472305 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 56472305 56472305 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.7022 p.R2341Q 0.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 21 6 22.22 49 0 0.00 DST 667 genome.wustl.edu 37 6 56472808 56472808 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 56472808 56472808 C A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.6519 p.M2173I 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 26 7 21.21 35 0 0.00 DST 667 genome.wustl.edu 37 6 56473210 56473210 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 56473210 56473210 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.6117 p.L2039 1.000 pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 18 12 40.00 27 0 0.00 DST 667 genome.wustl.edu 37 6 56480748 56480748 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 56480748 56480748 C T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.7517 p.R2506K 0.946 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 38 29 43.28 32 0 0.00 DST 667 genome.wustl.edu 37 6 56481855 56481855 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 56481855 56481855 G T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.6410 p.T2137N 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 23 7 23.33 47 0 0.00 DST 667 genome.wustl.edu 37 6 56483273 56483273 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56483273 56483273 G T SNP DST ENST00000370765 human ensembl 70_37 -1 known silent c.5559 p.I1853 0.999 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 19 15 44.12 53 0 0.00 DST 667 genome.wustl.edu 37 6 56483917 56483917 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 56483917 56483917 C T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.4915 p.E1639K 0.731 superfamily_Ig/albumin-bd pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 29 7 19.44 37 0 0.00 DST 667 genome.wustl.edu 37 6 56484707 56484707 + Silent SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 56484707 56484707 A G SNP DST ENST00000370765 human ensembl 70_37 -1 known silent c.4125 p.N1375 0.454 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 36 14 28.00 71 0 0.00 DST 667 genome.wustl.edu 37 6 56504497 56504497 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56504497 56504497 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.2595 p.L865 0.907 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 10 7 41.18 14 0 0.00 DST 667 genome.wustl.edu 37 6 56504768 56504768 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 56504768 56504768 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.2479 p.E827Q 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 63 12 16.00 105 0 0.00 DST 667 genome.wustl.edu 37 6 56506864 56506864 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 56506864 56506864 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.1809 p.Q603 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 29 78 72.90 120 0 0.00 DST 667 genome.wustl.edu 37 6 56707877 56707877 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 56707877 56707877 C G SNP DST ENST00000370769 human ensembl 70_37 -1 known missense c.67 p.E23Q 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 47 51 52.04 52 0 0.00 DSTN 11034 genome.wustl.edu 37 20 17585273 17585273 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 17585273 17585273 C G SNP DSTN ENST00000246069 human ensembl 70_37 +1 known missense c.385 p.Q129E 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 13 3 18.75 19 0 0.00 DSTN 11034 genome.wustl.edu 37 20 17587697 17587697 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 17587697 17587697 G T SNP DSTN ENST00000246069 human ensembl 70_37 +1 known missense c.404 p.C135F 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 27 4 12.90 67 0 0.00 DSTYK 25778 genome.wustl.edu 37 1 205128678 205128678 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 205128678 205128678 C T SNP DSTYK ENST00000367162 human ensembl 70_37 -1 known silent c.2235 p.L745 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DSTYK HGNC ENSG00000133059 55 17 23.61 41 0 0.00 DTD1 92675 genome.wustl.edu 37 20 18576746 18576746 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18576746 18576746 C A SNP DTD1 ENST00000377452 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC ENSG00000125821 42 40 48.78 26 0 0.00 DTD1 92675 genome.wustl.edu 37 20 18576746 18576746 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18576746 18576746 C A SNP DTD1 ENST00000377452 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC ENSG00000125821 51 57 52.78 50 0 0.00 DTNA 1837 genome.wustl.edu 37 18 32374109 32374109 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 32374109 32374109 C G SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.257 p.S86C 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 29 5 14.71 64 0 0.00 DTNA 1837 genome.wustl.edu 37 18 32398254 32398254 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 32398254 32398254 C G SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.836 p.S279C 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 33 25 43.10 48 0 0.00 DTNA 1837 genome.wustl.edu 37 18 32418088 32418088 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 32418088 32418088 G A SNP DTNA ENST00000269190 human ensembl 70_37 +1 known silent c.1128 p.Q376 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 22 14 38.89 34 0 0.00 DTNA 1837 genome.wustl.edu 37 18 32438352 32438352 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 32438352 32438352 C T SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.1558 p.R520W 0.993 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 10 11 52.38 40 0 0.00 DTNA 1837 genome.wustl.edu 37 18 32443934 32443934 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 32443934 32443934 C T SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.1573 p.R525C 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 8 6 42.86 22 0 0.00 DTNB 1838 genome.wustl.edu 37 2 25655804 25655804 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 25655804 25655804 C G SNP DTNB ENST00000406818 human ensembl 70_37 -1 known missense c.1408 p.E470Q 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 22 22 50.00 47 0 0.00 DTNB 1838 genome.wustl.edu 37 2 25705727 25705727 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 25705727 25705727 C T SNP DTNB ENST00000406818 human ensembl 70_37 -1 known silent c.1017 p.L339 0.998 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 14 15 51.72 22 0 0.00 DTNB 1838 genome.wustl.edu 37 2 25851118 25851118 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 25851118 25851118 C T SNP DTNB ENST00000406818 human ensembl 70_37 -1 known missense c.284 p.R95H 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 61 16 20.78 101 0 0.00 DTWD1 56986 genome.wustl.edu 37 15 49917417 49917417 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 49917417 49917417 A C SNP DTWD1 ENST00000251250 human ensembl 70_37 +1 known missense c.53 p.K18T 0.188 NULL pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 21 18 46.15 67 0 0.00 DTWD1 56986 genome.wustl.edu 37 15 49935672 49935672 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 49935672 49935672 G T SNP DTWD1 ENST00000251250 human ensembl 70_37 +1 known missense c.812 p.R271I 0.970 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 12 9 42.86 54 0 0.00 DTX1 1840 genome.wustl.edu 37 12 113531867 113531867 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113531867 113531867 G T SNP DTX1 ENST00000257600 human ensembl 70_37 +1 known missense c.1190 p.R397L 0.903 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 32 25 43.86 45 0 0.00 DTX1 1840 genome.wustl.edu 37 12 113533237 113533237 + RNA SNP A A G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 113533237 113533237 A G SNP DTX1 ENST00000547730 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DTX1 HGNC ENSG00000135144 42 16 27.59 48 0 0.00 DTX1 1840 genome.wustl.edu 37 12 113534597 113534597 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113534597 113534597 G C SNP DTX1 ENST00000257600 human ensembl 70_37 +1 known silent c.1716 p.S572 0.636 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 25 24 48.98 71 0 0.00 DTX2 113878 genome.wustl.edu 37 7 76112111 76112111 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76112111 76112111 C T SNP DTX2 ENST00000324432 human ensembl 70_37 +1 known silent c.555 p.I185 0.331 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 91 23 20.18 111 0 0.00 DTX2P1-UPK3BP1-PMS2P11 441263 genome.wustl.edu 37 7 76669373 76669373 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 76669373 76669373 G C SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 314 114 26.64 424 0 0.00 DTX3 196403 genome.wustl.edu 37 12 58001319 58001319 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 58001319 58001319 G A SNP DTX3 ENST00000551632 human ensembl 70_37 +1 known missense c.682 p.A228T 0.991 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 28 4 12.50 59 0 0.00 DTX3 196403 genome.wustl.edu 37 12 58002422 58002422 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 58002422 58002422 C T SNP DTX3 ENST00000551632 human ensembl 70_37 +1 known silent c.879 p.L293 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 62 45 42.06 106 0 0.00 DTX3L 151636 genome.wustl.edu 37 3 122283436 122283436 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 122283436 122283436 C T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.163 p.R55W 0.003 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 51 31 37.80 89 0 0.00 DTX3L 151636 genome.wustl.edu 37 3 122284856 122284856 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 122284856 122284856 C T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.338 p.S113F 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 55 11 16.42 38 0 0.00 DTX3L 151636 genome.wustl.edu 37 3 122287480 122287480 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 122287480 122287480 G C SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 82 17 17.00 87 0 0.00 DTX3L 151636 genome.wustl.edu 37 3 122288386 122288386 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 122288386 122288386 G T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.1450 p.V484L 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 24 4 14.29 25 0 0.00 DTX4 23220 genome.wustl.edu 37 11 58956669 58956669 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 58956669 58956669 G A SNP DTX4 ENST00000227451 human ensembl 70_37 +1 known silent c.1032 p.L344 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 17 18 51.43 21 0 0.00 DTX4 23220 genome.wustl.edu 37 11 58962710 58962710 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58962710 58962710 G T SNP DTX4 ENST00000227451 human ensembl 70_37 +1 known missense c.1404 p.K468N 1.000 pfscan_Znf_RING pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 25 8 24.24 43 0 0.00 DUOX1 53905 genome.wustl.edu 37 15 45426095 45426095 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 45426095 45426095 G A SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.92 p.R31Q 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 32 25 43.86 54 0 0.00 DUOX1 53905 genome.wustl.edu 37 15 45430180 45430180 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 45430180 45430180 C T SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.1081 p.L361F 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 16 14 46.67 41 0 0.00 DUOX1 53905 genome.wustl.edu 37 15 45433184 45433184 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 45433184 45433184 G A SNP DUOX1 ENST00000561220 human ensembl 70_37 +1 known nonsense c.1308 p.W436* 1.000 pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors DUOX1 HGNC ENSG00000137857 20 7 25.93 26 0 0.00 DUOX1 53905 genome.wustl.edu 37 15 45444103 45444103 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 45444103 45444103 G A SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.3046 p.E1016K 0.998 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 33 15 31.25 46 0 0.00 DUOX2 50506 genome.wustl.edu 37 15 45393432 45393432 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 45393432 45393432 G C SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known silent c.2892 p.V964 0.998 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 6 6 46.15 19 0 0.00 DUOX2 50506 genome.wustl.edu 37 15 45398750 45398750 + Nonsense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 15 45398750 45398750 C A SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known nonsense c.1921 p.E641* 0.098 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 43 8 15.69 51 0 0.00 DUOX2 50506 genome.wustl.edu 37 15 45404058 45404058 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 45404058 45404058 C T SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known missense c.421 p.D141N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 34 13 27.66 64 0 0.00 DUOX2 50506 genome.wustl.edu 37 15 45404065 45404065 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 45404065 45404065 G A SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known silent c.414 p.P138 0.003 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 65 52 44.44 63 0 0.00 DUOXA1 90527 genome.wustl.edu 37 15 45411371 45411371 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 45411371 45411371 G C SNP DUOXA1 ENST00000267803 human ensembl 70_37 -1 known nonsense c.965 p.S322* 0.996 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 126 16 11.27 152 0 0.00 DUOXA1 90527 genome.wustl.edu 37 15 45415085 45415085 + Missense_Mutation SNP G G C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 45415085 45415085 G C SNP DUOXA1 ENST00000267803 human ensembl 70_37 -1 known missense c.128 p.P43R 1.000 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 107 16 13.01 92 0 0.00 DUS1L 64118 genome.wustl.edu 37 17 80022092 80022092 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 80022092 80022092 C T SNP DUS1L ENST00000306796 human ensembl 70_37 -1 known missense c.256 p.E86K 0.996 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 31 4 11.43 39 0 0.00 DUS2 54920 genome.wustl.edu 37 16 68090294 68090294 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 68090294 68090294 C G SNP DUS2L ENST00000358896 human ensembl 70_37 +1 known silent c.336 p.V112 0.999 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd - no_errors DUS2L HGNC ENSG00000167264 84 21 20.00 155 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5785241 5785241 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5785241 5785241 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known silent c.1926 p.P642 0.886 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 62 36 36.73 82 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5786512 5786512 + Missense_Mutation SNP T T A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 5786512 5786512 T A SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.1528 p.M510L 0.994 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 41 19 31.67 52 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5787352 5787352 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 5787352 5787352 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.1233 p.M411I 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 137 37 21.26 118 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5788165 5788165 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 19 5788165 5788165 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.965 p.R322Q 0.993 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 28 6 17.65 36 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5789395 5789395 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 5789395 5789395 G A SNP DUS3L ENST00000590110 human ensembl 70_37 -1 known missense c.521 p.P174L 0.000 NULL NULL - no_errors DUS3L HGNC ENSG00000141994 26 13 33.33 25 0 0.00 DUS3L 56931 genome.wustl.edu 37 19 5789420 5789420 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5789420 5789420 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.698 p.R233H 0.000 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 17 4 19.05 45 0 0.00 DUSP1 1843 genome.wustl.edu 37 5 172196702 172196702 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 172196702 172196702 C G SNP DUSP1 ENST00000239223 human ensembl 70_37 -1 known missense c.609 p.L203F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 63 22 25.88 123 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 20 5 20.00 23 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 11 3 21.43 15 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 14 2 12.50 12 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 29 6 17.14 14 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 21 4 16.00 16 0 0.00 DUSP10 11221 genome.wustl.edu 37 1 221912616 221912616 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 221912616 221912616 C G SNP DUSP10 ENST00000366899 human ensembl 70_37 -1 known missense c.471 p.K157N 1.000 superfamily_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 64 53 45.30 113 0 0.00 DUSP11 8446 genome.wustl.edu 37 2 74007169 74007169 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 74007169 74007169 C A SNP DUSP11 ENST00000272444 human ensembl 70_37 -1 known missense c.74 p.G25V 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors DUSP11 HGNC ENSG00000144048 23 4 14.81 26 0 0.00 DUSP12 11266 genome.wustl.edu 37 1 161721742 161721742 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161721742 161721742 A G SNP DUSP12 ENST00000367943 human ensembl 70_37 +1 known missense c.545 p.Y182C 1.000 pirsf_DUSP12 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 17 10 37.04 37 0 0.00 DUSP13 51207 genome.wustl.edu 37 10 76867864 76867864 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 76867864 76867864 C T SNP DUSP13 ENST00000372702 human ensembl 70_37 -1 known missense c.253 p.G85S 0.998 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 44 5 10.20 52 0 0.00 DUSP15 128853 genome.wustl.edu 37 20 30436311 30436311 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 30436311 30436311 G A SNP DUSP15 ENST00000278979 human ensembl 70_37 -1 known missense c.784 p.R262C 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 18 13 41.94 35 0 0.00 DUSP16 80824 genome.wustl.edu 37 12 12630173 12630173 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 12630173 12630173 G C SNP DUSP16 ENST00000228862 human ensembl 70_37 -1 known missense c.1592 p.S531C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 25 13 34.21 28 0 0.00 DUSP16 80824 genome.wustl.edu 37 12 12672925 12672925 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 12672925 12672925 C G SNP DUSP16 ENST00000228862 human ensembl 70_37 -1 known missense c.238 p.D80H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 15 16 51.61 44 0 0.00 DUSP26 78986 genome.wustl.edu 37 8 33449681 33449681 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 33449681 33449681 C T SNP DUSP26 ENST00000256261 human ensembl 70_37 -1 known silent c.486 p.L162 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 12 8 40.00 17 0 0.00 DUSP26 78986 genome.wustl.edu 37 8 33454935 33454935 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 33454935 33454935 C T SNP DUSP26 ENST00000256261 human ensembl 70_37 -1 known silent c.99 p.E33 0.994 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 11 14 56.00 53 0 0.00 DUSP27 92235 genome.wustl.edu 37 1 167095628 167095628 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167095628 167095628 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.1260 p.E420D 0.007 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 30 5 14.29 32 0 0.00 DUSP27 92235 genome.wustl.edu 37 1 167097351 167097351 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 167097351 167097351 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.2983 p.E995Q 0.005 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 25 22 46.81 29 0 0.00 DUSP27 92235 genome.wustl.edu 37 1 167097688 167097688 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 167097688 167097688 G A SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.3320 p.R1107K 0.015 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 11 6 35.29 20 0 0.00 DUSP27 92235 genome.wustl.edu 37 1 167097844 167097844 + Nonstop_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167097844 167097844 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known nonstop c.3476 p.*1159S 0.401 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 53 13 19.70 46 0 0.00 DUSP4 1846 genome.wustl.edu 37 8 29194615 29194615 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 29194615 29194615 G A SNP DUSP4 ENST00000240100 human ensembl 70_37 -1 known silent c.1113 p.S371 0.107 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 15 5 25.00 32 0 0.00 DUSP5 1847 genome.wustl.edu 37 10 112262487 112262487 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 112262487 112262487 G A SNP DUSP5 ENST00000369583 human ensembl 70_37 +1 known missense c.388 p.E130K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 96 26 21.31 85 0 0.00 DUSP5 1847 genome.wustl.edu 37 10 112262487 112262487 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 112262487 112262487 G C SNP DUSP5 ENST00000369583 human ensembl 70_37 +1 known missense c.388 p.E130Q 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 27 18 40.00 23 0 0.00 DUSP7 1849 genome.wustl.edu 37 3 52087974 52087974 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52087974 52087974 C G SNP DUSP7 ENST00000296483 human ensembl 70_37 -1 known missense c.781 p.E261Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP7 HGNC ENSG00000164086 60 57 48.31 66 0 0.00 DUSP7 1849 genome.wustl.edu 37 3 52088244 52088244 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 52088244 52088244 C T SNP DUSP7 ENST00000296483 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP7 HGNC ENSG00000164086 20 10 33.33 18 0 0.00 DUSP8 1850 genome.wustl.edu 37 11 1580137 1580137 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1580137 1580137 C T SNP DUSP8 ENST00000331588 human ensembl 70_37 -1 known silent c.519 p.Q173 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 23 31 57.41 89 0 0.00 DUSP8 1850 genome.wustl.edu 37 11 1580215 1580215 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1580215 1580215 C T SNP DUSP8 ENST00000331588 human ensembl 70_37 -1 known missense c.441 p.M147I 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 18 34 65.38 97 0 0.00 DUSP9 1852 genome.wustl.edu 37 X 152913687 152913687 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 152913687 152913687 G T SNP DUSP9 ENST00000342782 human ensembl 70_37 +1 known nonsense c.280 p.E94* 0.001 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 3 23 88.46 16 0 0.00 DUT 1854 genome.wustl.edu 37 15 48623778 48623778 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 48623778 48623778 G C SNP DUT ENST00000331200 human ensembl 70_37 +1 known silent c.66 p.A22 0.003 NULL pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC ENSG00000128951 51 12 19.05 24 0 0.00 DUXA 503835 genome.wustl.edu 37 19 57669800 57669800 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 57669800 57669800 G A SNP DUXA ENST00000554048 human ensembl 70_37 -1 known nonsense c.334 p.Q112* 0.013 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors DUXA HGNC ENSG00000258873 46 7 13.21 63 0 0.00 DVL1 1855 genome.wustl.edu 37 1 1273752 1273752 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1273752 1273752 C T SNP DVL1 ENST00000378888 human ensembl 70_37 -1 known silent c.1404 p.R468 0.681 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 58 13 18.31 42 0 0.00 DVL1 1855 genome.wustl.edu 37 1 1273930 1273930 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1273930 1273930 G C SNP DVL1 ENST00000378888 human ensembl 70_37 -1 known silent c.1311 p.L437 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 48 16 25.00 32 0 0.00 DVL2 1856 genome.wustl.edu 37 17 7132958 7132958 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 7132958 7132958 G A SNP DVL2 ENST00000005340 human ensembl 70_37 -1 known silent c.696 p.L232 1.000 pfam_Dishevelled_protein_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 28 10 26.32 46 0 0.00 DVL2 1856 genome.wustl.edu 37 17 7133189 7133189 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 7133189 7133189 G T SNP DVL2 ENST00000005340 human ensembl 70_37 -1 known silent c.594 p.L198 0.946 pfam_Dishevelled_protein_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 35 20 36.36 65 0 0.00 DYDC2 84332 genome.wustl.edu 37 10 82126684 82126684 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 82126684 82126684 C T SNP DYDC2 ENST00000372198 human ensembl 70_37 +1 known missense c.553 p.P185S 0.000 NULL pfam_Dpy-30_motif - no_errors DYDC2 HGNC ENSG00000133665 32 18 36.00 45 0 0.00 DYM 54808 genome.wustl.edu 37 18 46570541 46570541 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 46570541 46570541 C G SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1894 p.E632Q 1.000 pfam_Dymeclin pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 123 28 18.54 171 0 0.00 DYM 54808 genome.wustl.edu 37 18 46783450 46783450 + Missense_Mutation SNP A A C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 18 46783450 46783450 A C SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1390 p.L464V 0.989 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 55 18 24.66 63 0 0.00 DYM 54808 genome.wustl.edu 37 18 46798640 46798640 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 46798640 46798640 C T SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 37 6 13.95 51 0 0.00 DYM 54808 genome.wustl.edu 37 18 46808458 46808458 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 18 46808458 46808458 G A SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1034 p.S345F 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 21 12 35.29 56 0 0.00 DYNAP 284254 genome.wustl.edu 37 18 52265085 52265085 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 52265085 52265085 C G SNP DYNAP ENST00000321600 human ensembl 70_37 +1 known silent c.342 p.V114 0.942 NULL NULL - no_errors DYNAP HGNC ENSG00000178690 10 7 41.18 46 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102452449 102452449 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 102452449 102452449 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.1887 p.Q629 0.992 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 29 5 14.71 29 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102466695 102466695 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 102466695 102466695 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known nonsense c.4033 p.Q1345* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 80 79 49.69 109 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102467326 102467326 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 102467326 102467326 G C SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.4110 p.L1370 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 69 24 25.81 70 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102467876 102467876 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 102467876 102467876 G T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.4400 p.R1467I 0.965 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 24 20 45.45 36 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102473425 102473425 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 102473425 102473425 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.5797 p.D1933N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 70 12 14.63 60 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102474550 102474550 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 102474550 102474550 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.5853 p.V1951 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 18 35 66.04 53 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102476247 102476247 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 102476247 102476247 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.6045 p.F2015 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 16 14 46.67 15 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102476369 102476369 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 102476369 102476369 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.6167 p.S2056L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 17 8 32.00 30 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102477085 102477085 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 102477085 102477085 A G SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.6414 p.I2138M 0.827 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 18 12 40.00 34 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102477145 102477145 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 102477145 102477145 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.6474 p.F2158 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 58 10 14.71 68 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102481656 102481656 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 102481656 102481656 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.7229 p.S2410F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 19 11 36.67 28 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102493773 102493773 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 102493773 102493773 G C SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.8940 p.L2980F 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 35 19 35.19 59 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102493819 102493819 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 102493819 102493819 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.8986 p.E2996K 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 27 23 46.00 77 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102496561 102496561 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 102496561 102496561 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.9825 p.Q3275 0.745 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 57 7 10.94 96 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102510323 102510323 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 102510323 102510323 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.12625 p.E4209K 1.000 pfam_Dynein_heavy_dom,superfamily_Glutathione-S-Trfase_C-like pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 49 29 37.18 76 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102514296 102514296 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 102514296 102514296 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.13149 p.T4383 0.087 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 37 18 32.73 14 0 0.00 DYNC1H1 1778 genome.wustl.edu 37 14 102516087 102516087 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 14 102516087 102516087 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.13552 p.E4518K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 45 21 31.82 73 0 0.00 DYNC1I1 1780 genome.wustl.edu 37 7 95442584 95442584 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 95442584 95442584 G T SNP DYNC1I1 ENST00000324972 human ensembl 70_37 +1 known silent c.300 p.S100 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 17 11 39.29 32 0 0.00 DYNC1I1 1780 genome.wustl.edu 37 7 95705393 95705393 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 95705393 95705393 G A SNP DYNC1I1 ENST00000324972 human ensembl 70_37 +1 known missense c.1585 p.E529K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 35 15 29.41 49 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 22 3 12.00 21 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172569303 172569303 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 172569303 172569303 C T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.362 p.S121L 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 32 15 31.91 66 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172569311 172569311 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 172569311 172569311 C T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known nonsense c.370 p.Q124* 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 34 15 30.61 65 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172585296 172585296 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 172585296 172585296 G A SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1327 p.D443N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 45 27 37.50 71 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 30 4 11.76 60 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172586253 172586253 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 172586253 172586253 C G SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1426 p.Q476E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 53 18 25.35 54 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172600662 172600662 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 172600662 172600662 G T SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1640 p.G547V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 22 3 12.00 55 0 0.00 DYNC1I2 1781 genome.wustl.edu 37 2 172604356 172604356 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 172604356 172604356 G A SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1874 p.R625Q 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 57 26 31.33 64 0 0.00 DYNC1LI1 51143 genome.wustl.edu 37 3 32571049 32571050 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 32571049 32571050 - T INS DYNC1LI1 ENST00000273130 human ensembl 70_37 -1 known frame_shift_ins c.1289_1288 p.I430fs 1.000:1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI1 HGNC ENSG00000144635 31 29 48.33 55 0 0.00 DYNC1LI1 51143 genome.wustl.edu 37 3 32587353 32587353 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 32587353 32587353 C T SNP DYNC1LI1 ENST00000273130 human ensembl 70_37 -1 known missense c.325 p.E109K 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI1 HGNC ENSG00000144635 118 56 31.82 168 0 0.00 DYNC1LI1 51143 genome.wustl.edu 37 3 32612168 32612168 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 32612168 32612168 G A SNP DYNC1LI1 ENST00000273130 human ensembl 70_37 -1 known missense c.95 p.S32L 0.921 NULL pfam_Dynein_light_int_chain - no_errors DYNC1LI1 HGNC ENSG00000144635 10 6 37.50 27 0 0.00 DYNC1LI2 1783 genome.wustl.edu 37 16 66764083 66764083 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 66764083 66764083 C - DEL DYNC1LI2 ENST00000258198 human ensembl 70_37 -1 known frame_shift_del c.973 p.E325fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI2 HGNC ENSG00000135720 60 20 25.00 99 0 0.00 DYNC1LI2 1783 genome.wustl.edu 37 16 66785177 66785177 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 66785177 66785177 G A SNP DYNC1LI2 ENST00000568180 human ensembl 70_37 -1 known missense c.137 p.S46L 1.000 NULL NULL - no_errors DYNC1LI2 HGNC ENSG00000135720 78 18 18.75 69 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 102993571 102993571 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102993571 102993571 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.1503 p.K501N 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 28 5 15.15 52 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103025519 103025519 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 103025519 103025519 C T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.3554 p.S1185L 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 9 6 40.00 37 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103026151 103026151 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 103026151 103026151 G A SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.3665 p.G1222E 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 63 7 10.00 75 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103026188 103026188 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 103026188 103026188 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known silent c.3702 p.L1234 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 48 14 22.58 80 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103041002 103041002 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 103041002 103041002 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.5134 p.V1712F 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 23 3 11.54 47 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103043833 103043833 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 103043833 103043833 G A SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.5357 p.G1786E 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 14 6 30.00 17 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103049938 103049938 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 103049938 103049938 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.6323 p.S2108C 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 20 36 64.29 73 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103070089 103070089 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 103070089 103070089 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.7972 p.G2658C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 33 4 10.81 56 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103092859 103092859 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 103092859 103092859 A G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.9208 p.N3070D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 32 28 46.67 65 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103116084 103116084 + Silent SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 103116084 103116084 A G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known silent c.10044 p.R3348 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 34 27 44.26 82 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103128387 103128387 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 103128387 103128387 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.10533 p.F3511L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 38 12 23.53 80 0 0.00 DYNC2H1 79659 genome.wustl.edu 37 11 103187327 103187327 + Frame_Shift_Del DEL C C - TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 103187327 103187327 C - DEL DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known frame_shift_del c.11724 p.N3908fs 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 3 2 40.00 12 0 0.00 DYNC2LI1 51626 genome.wustl.edu 37 2 44019873 44019873 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 44019873 44019873 C T SNP DYNC2LI1 ENST00000398823 human ensembl 70_37 +1 novel missense c.379 p.H127Y 0.004 NULL NULL - no_errors DYNC2LI1 HGNC ENSG00000138036 23 19 45.24 33 0 0.00 DYNLL1 8655 genome.wustl.edu 37 12 120934235 120934235 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 120934235 120934235 G A SNP DYNLL1 ENST00000242577 human ensembl 70_37 +1 known missense c.11 p.R4Q 1.000 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 - no_errors DYNLL1 HGNC ENSG00000088986 37 8 17.78 49 0 0.00 DYNLRB1 83658 genome.wustl.edu 37 20 33122637 33122637 + Silent SNP T T G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 33122637 33122637 T G SNP DYNLRB1 ENST00000417166 human ensembl 70_37 +1 known silent c.285 p.P95 0.022 smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 1 12 92.31 11 0 0.00 DYNLRB1 83658 genome.wustl.edu 37 20 33128384 33128384 + Splice_Site SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 33128384 33128384 G T SNP DYNLRB1 ENST00000357156 human ensembl 70_37 +1 known splice_site c.248-1 e4-1 1.000 - - - no_errors DYNLRB1 HGNC ENSG00000125971 40 14 25.93 54 0 0.00 DYNLRB1 83658 genome.wustl.edu 37 20 33128394 33128394 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 33128394 33128394 A G SNP DYNLRB1 ENST00000357156 human ensembl 70_37 +1 known missense c.257 p.Y86C 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type - no_errors DYNLRB1 HGNC ENSG00000125971 19 17 47.22 80 0 0.00 DYRK1A 1859 genome.wustl.edu 37 21 38739647 38739647 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 38739647 38739647 C T SNP DYRK1A ENST00000462274 human ensembl 70_37 +1 known rna NULL NULL 0.598 - - - no_errors DYRK1A HGNC ENSG00000157540 22 17 42.50 14 0 0.00 DYRK1A 1859 genome.wustl.edu 37 21 38862616 38862616 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 38862616 38862616 G C SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.804 p.Q268H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 44 8 15.38 66 0 0.00 DYRK1A 1859 genome.wustl.edu 37 21 38862731 38862731 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 38862731 38862731 G A SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.919 p.D307N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 51 24 32.00 39 0 0.00 DYRK1A 1859 genome.wustl.edu 37 21 38884298 38884298 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 21 38884298 38884298 G C SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.1756 p.E586Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 32 23 41.82 69 0 0.00 DYRK1A 1859 genome.wustl.edu 37 21 38884574 38884574 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 38884574 38884574 C G SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.2032 p.Q678E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 93 26 21.85 143 0 0.00 DYRK1B 9149 genome.wustl.edu 37 19 40319105 40319105 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40319105 40319105 C G SNP DYRK1B ENST00000323039 human ensembl 70_37 -1 known silent c.639 p.L213 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1B HGNC ENSG00000105204 26 23 46.94 41 0 0.00 DYRK3 8444 genome.wustl.edu 37 1 206810291 206810291 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 206810291 206810291 C T SNP DYRK3 ENST00000489878 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors DYRK3 HGNC ENSG00000143479 40 5 11.11 48 0 0.00 DYRK4 8798 genome.wustl.edu 37 12 4682315 4682315 + RNA SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 12 4682315 4682315 G C SNP DYRK4 ENST00000539490 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors DYRK4 HGNC ENSG00000010219 7 5 41.67 8 0 0.00 DYRK4 8798 genome.wustl.edu 37 12 4682343 4682343 + RNA SNP A A C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 4682343 4682343 A C SNP DYRK4 ENST00000539490 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DYRK4 HGNC ENSG00000010219 4 6 60.00 10 0 0.00 DYSF 8291 genome.wustl.edu 37 2 71817400 71817400 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 2 71817400 71817400 G A SNP DYSF ENST00000413539 human ensembl 70_37 +1 known missense c.3595 p.D1199N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 40 31 43.06 80 0 0.00 DYSF 8291 genome.wustl.edu 37 2 71828536 71828536 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 71828536 71828536 G C SNP DYSF ENST00000472873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DYSF HGNC ENSG00000135636 43 17 28.33 51 0 0.00 DYSF 8291 genome.wustl.edu 37 2 71829914 71829914 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 71829914 71829914 G T SNP DYSF ENST00000413539 human ensembl 70_37 +1 known missense c.3975 p.E1325D 0.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 20 12 37.50 50 0 0.00 DYTN 391475 genome.wustl.edu 37 2 207572075 207572075 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 207572075 207572075 G A SNP DYTN ENST00000452335 human ensembl 70_37 -1 known missense c.247 p.P83S 0.982 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 139 20 12.58 129 0 0.00 DYTN 391475 genome.wustl.edu 37 2 207575289 207575289 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 207575289 207575289 C T SNP DYTN ENST00000452335 human ensembl 70_37 -1 known missense c.53 p.R18K 1.000 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 54 19 26.03 90 0 0.00 DZANK1 55184 genome.wustl.edu 37 20 18395005 18395005 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 18395005 18395005 C T SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.1229 p.R410H 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 16 11 40.74 34 0 0.00 DZANK1 55184 genome.wustl.edu 37 20 18395005 18395005 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 18395005 18395005 C T SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.1229 p.R410H 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 36 22 37.93 67 0 0.00 DZANK1 55184 genome.wustl.edu 37 20 18445975 18445975 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 20 18445975 18445975 G C SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.28 p.Q10E 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 33 11 25.00 33 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96234514 96234514 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 96234514 96234514 C T SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.2578 p.D860N 0.688 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 89 13 12.75 70 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96234549 96234549 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 96234549 96234549 G C SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known nonsense c.2543 p.S848* 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 22 9 29.03 47 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96239958 96239958 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 96239958 96239958 C T SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.2053 p.E685K 0.861 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 43 32 42.67 57 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96240001 96240001 + RNA SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 13 96240001 96240001 G A SNP DZIP1 ENST00000485031 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DZIP1 HGNC ENSG00000134874 49 13 20.97 49 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96241408 96241408 + Frame_Shift_Del DEL G G - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 96241408 96241408 G - DEL DZIP1 ENST00000347108 human ensembl 70_37 -1 known frame_shift_del c.2027 p.T676fs 0.606 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 184 28 13.21 179 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96274674 96274674 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 13 96274674 96274674 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.1033 p.D345H 0.981 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 100 18 15.13 222 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96274674 96274674 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 13 96274674 96274674 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.1033 p.D345H 0.981 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 55 10 15.38 39 0 0.00 DZIP1 22873 genome.wustl.edu 37 13 96293740 96293740 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 96293740 96293740 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.406 p.E136Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 29 16 35.56 36 0 0.00 DZIP1L 199221 genome.wustl.edu 37 3 137787051 137787051 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 137787051 137787051 G C SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.1774 p.P592A 0.201 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 62 41 39.42 94 0 0.00 DZIP1L 199221 genome.wustl.edu 37 3 137787115 137787115 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 137787115 137787115 G A SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known silent c.1710 p.P570 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 154 26 14.44 128 0 0.00 DZIP1L 199221 genome.wustl.edu 37 3 137800604 137800604 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 137800604 137800604 G A SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known silent c.1206 p.I402 0.952 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 69 49 41.53 70 0 0.00 DZIP1L 199221 genome.wustl.edu 37 3 137811366 137811366 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 137811366 137811366 C G SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.729 p.Q243H 0.997 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 191 52 21.40 171 0 0.00 DZIP1L 199221 genome.wustl.edu 37 3 137816688 137816688 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 3 137816688 137816688 C T SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.503 p.C168Y 1.000 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 41 16 28.07 74 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108351882 108351882 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 108351882 108351882 C T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.779 p.S260F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 18 11 37.93 52 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108355553 108355553 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108355553 108355553 T G SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1009 p.L337V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 86 55 38.73 181 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108361302 108361302 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 108361302 108361302 C G SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 46 9 16.36 59 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108366903 108366903 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 108366903 108366903 G T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1906 p.D636Y 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 56 9 13.85 37 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108392964 108392964 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 108392964 108392964 C A SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.2629 p.H877N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 31 11 26.19 29 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108403096 108403096 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108403096 108403096 G T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known nonsense c.2917 p.E973* 0.941 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 15 6 28.57 16 0 0.00 DZIP3 9666 genome.wustl.edu 37 3 108407541 108407541 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 108407541 108407541 C T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known silent c.3372 p.L1124 0.227 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 80 11 12.09 36 0 0.00 E2F1 1869 genome.wustl.edu 37 20 32264972 32264972 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 32264972 32264972 T C SNP E2F1 ENST00000343380 human ensembl 70_37 -1 known silent c.1005 p.P335 0.562 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 44 24 35.29 95 0 0.00 E2F2 1870 genome.wustl.edu 37 1 23847437 23847437 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23847437 23847437 G A SNP E2F2 ENST00000361729 human ensembl 70_37 -1 known silent c.705 p.F235 0.985 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 25 19 43.18 44 0 0.00 E2F2 1870 genome.wustl.edu 37 1 23848447 23848447 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 23848447 23848447 C T SNP E2F2 ENST00000361729 human ensembl 70_37 -1 known missense c.460 p.D154N 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 36 8 18.18 49 0 0.00 E2F3 1871 genome.wustl.edu 37 6 20402643 20402643 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 20402643 20402643 C G SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.180 p.I60M 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 36 5 12.20 61 0 0.00 E2F3 1871 genome.wustl.edu 37 6 20480156 20480156 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 20480156 20480156 G A SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.473 p.R158K 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 30 26 46.43 35 0 0.00 E2F3 1871 genome.wustl.edu 37 6 20480168 20480168 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 20480168 20480168 G A SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.485 p.R162Q 0.993 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 20 19 47.50 22 0 0.00 E2F4 1874 genome.wustl.edu 37 16 67229811 67229811 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 67229811 67229811 G T SNP E2F4 ENST00000379378 human ensembl 70_37 +1 known missense c.935 p.S312I 0.999 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 97 16 14.16 70 0 0.00 E2F4 1874 genome.wustl.edu 37 16 67229811 67229812 + In_Frame_Ins INS - - CAGCAT TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 67229811 67229812 - CAGCAT INS E2F4 ENST00000379378 human ensembl 70_37 +1 known in_frame_ins c.935_936 p.314in_frame_insIS 0.999:0.996 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 98 15 13.27 70 0 0.00 E2F5 1875 genome.wustl.edu 37 8 86089801 86089801 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 86089801 86089801 G A SNP E2F5 ENST00000256117 human ensembl 70_37 +1 known missense c.146 p.S49N 1.000 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 5 9 64.29 11 0 0.00 E2F5 1875 genome.wustl.edu 37 8 86127137 86127137 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 86127137 86127137 G A SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors E2F5 HGNC ENSG00000133740 40 8 16.67 23 0 0.00 E2F5 1875 genome.wustl.edu 37 8 86127142 86127142 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 86127142 86127142 C T SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors E2F5 HGNC ENSG00000133740 28 9 24.32 26 0 0.00 E2F5 1875 genome.wustl.edu 37 8 86127981 86127981 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 86127981 86127981 G A SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.151 - - - no_errors E2F5 HGNC ENSG00000133740 25 23 47.92 29 0 0.00 E2F6 1876 genome.wustl.edu 37 2 11598468 11598468 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 11598468 11598468 G T SNP E2F6 ENST00000444832 human ensembl 70_37 -1 known missense c.118 p.Q40K 0.000 NULL NULL - no_errors E2F6 HGNC ENSG00000169016 26 4 13.33 24 0 0.00 E2F7 144455 genome.wustl.edu 37 12 77421816 77421816 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 77421816 77421816 C G SNP E2F7 ENST00000322886 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.006 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 20 19 47.50 31 0 0.00 E2F7 144455 genome.wustl.edu 37 12 77436899 77436899 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 77436899 77436899 G A SNP E2F7 ENST00000322886 human ensembl 70_37 -1 known nonsense c.1069 p.R357* 0.996 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 60 28 31.82 39 0 0.00 E2F8 79733 genome.wustl.edu 37 11 19247095 19247095 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 19247095 19247095 C G SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.2094 p.L698F 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 50 18 26.47 61 0 0.00 E2F8 79733 genome.wustl.edu 37 11 19251245 19251245 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 19251245 19251245 G A SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.1649 p.S550F 0.877 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 14 24 63.16 16 0 0.00 E2F8 79733 genome.wustl.edu 37 11 19251318 19251318 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 19251318 19251318 G T SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.1576 p.Q526K 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 30 7 18.92 46 0 0.00 E2F8 79733 genome.wustl.edu 37 11 19255959 19255959 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 19255959 19255959 C G SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.876 p.K292N 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 146 36 19.78 215 0 0.00 E2F8 79733 genome.wustl.edu 37 11 19259631 19259631 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 19259631 19259631 G C SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.64 p.L22V 0.980 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 27 10 27.03 38 0 0.00 E4F1 1877 genome.wustl.edu 37 16 2283533 2283533 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 2283533 2283533 G C SNP E4F1 ENST00000301727 human ensembl 70_37 +1 known missense c.1151 p.R384P 0.245 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 9 2 18.18 13 0 0.00 E4F1 1877 genome.wustl.edu 37 16 2285568 2285568 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2285568 2285568 G A SNP E4F1 ENST00000301727 human ensembl 70_37 +1 known missense c.2350 p.V784I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 30 13 30.23 70 0 0.00 EAPP 55837 genome.wustl.edu 37 14 34998644 34998644 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 34998644 34998644 C T SNP EAPP ENST00000250454 human ensembl 70_37 -1 known silent c.390 p.K130 0.998 NULL pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENSG00000129518 30 24 44.44 48 0 0.00 EBAG9 9166 genome.wustl.edu 37 8 110569206 110569206 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 110569206 110569206 G C SNP EBAG9 ENST00000337573 human ensembl 70_37 +1 known missense c.364 p.D122H 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 119 21 15.00 78 0 0.00 EBF1 1879 genome.wustl.edu 37 5 158126044 158126044 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 158126044 158126044 C G SNP EBF1 ENST00000518323 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EBF1 HGNC ENSG00000164330 47 11 18.97 57 0 0.00 EBF2 64641 genome.wustl.edu 37 8 25718727 25718727 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 25718727 25718727 G A SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known nonsense c.1180 p.R394* 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 6 45 86.54 88 0 0.00 EBF2 64641 genome.wustl.edu 37 8 25897612 25897612 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 25897612 25897612 G A SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known silent c.414 p.I138 0.980 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 52 8 13.11 59 0 0.00 EBF3 253738 genome.wustl.edu 37 10 131639260 131639260 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 131639260 131639260 C T SNP EBF3 ENST00000355311 human ensembl 70_37 -1 known missense c.1409 p.R470Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC ENSG00000108001 67 27 28.42 84 0 0.00 EBF3 253738 genome.wustl.edu 37 10 131646736 131646736 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 131646736 131646736 C A SNP EBF3 ENST00000355311 human ensembl 70_37 -1 known nonsense c.1048 p.E350* 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC ENSG00000108001 48 21 30.43 102 0 0.00 EBF3 253738 genome.wustl.edu 37 10 131760527 131760527 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 131760527 131760527 G C SNP EBF3 ENST00000471715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EBF3 HGNC ENSG00000108001 13 13 50.00 10 0 0.00 EBF3 253738 genome.wustl.edu 37 10 131761042 131761042 + RNA SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 131761042 131761042 C A SNP EBF3 ENST00000471715 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EBF3 HGNC ENSG00000108001 9 7 43.75 19 0 0.00 EBF4 57593 genome.wustl.edu 37 20 2686251 2686251 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2686251 2686251 G C SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.466 p.E156Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ENSG00000088881 49 15 23.44 53 0 0.00 EBF4 57593 genome.wustl.edu 37 20 2686378 2686378 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2686378 2686378 G A SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.593 p.R198Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ENSG00000088881 51 15 22.73 64 0 0.00 EBF4 57593 genome.wustl.edu 37 20 2686630 2686630 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 2686630 2686630 C T SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.605 p.A202V 0.028 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ENSG00000088881 30 12 28.57 50 0 0.00 EBF4 57593 genome.wustl.edu 37 20 2688657 2688657 + Missense_Mutation SNP T T C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 2688657 2688657 T C SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.779 p.I260T 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC ENSG00000088881 4 5 55.56 9 0 0.00 EBLN2 55096 genome.wustl.edu 37 3 73111492 73111492 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 73111492 73111492 C T SNP EBLN2 ENST00000533473 human ensembl 70_37 +1 known missense c.260 p.P87L 0.002 pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000255423 9 11 55.00 31 0 0.00 EBNA1BP2 10969 genome.wustl.edu 37 1 43636553 43636553 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 43636553 43636553 G C SNP EBNA1BP2 ENST00000463906 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors EBNA1BP2 HGNC ENSG00000117395 39 28 41.79 50 0 0.00 EBNA1BP2 10969 genome.wustl.edu 37 1 43637890 43637890 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 43637890 43637890 C T SNP EBNA1BP2 ENST00000472982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EBNA1BP2 HGNC ENSG00000117395 25 6 19.35 33 0 0.00 EBP 10682 genome.wustl.edu 37 X 48382321 48382321 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 48382321 48382321 G A SNP EBP ENST00000495186 human ensembl 70_37 +1 known silent c.162 p.A54 0.000 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 65 12 15.58 139 0 0.00 EBPL 84650 genome.wustl.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 50235160 50235160 G C SNP EBPL ENST00000242827 human ensembl 70_37 -1 known missense c.565 p.L189V 0.264 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 16 3 15.79 28 0 0.00 ECE2 9718 genome.wustl.edu 37 3 183995182 183995182 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 183995182 183995182 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.760 p.D254N 0.987 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 115 51 30.72 58 0 0.00 ECE2 9718 genome.wustl.edu 37 3 183995182 183995182 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 183995182 183995182 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.760 p.D254N 0.987 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 136 24 15.00 75 0 0.00 ECE2 9718 genome.wustl.edu 37 3 183996310 183996310 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 183996310 183996310 C T SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1135 p.R379W 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 122 17 12.23 87 0 0.00 ECE2 9718 genome.wustl.edu 37 3 184001608 184001608 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 184001608 184001608 G C SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known silent c.1206 p.L402 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 94 15 13.76 45 0 0.00 ECE2 9718 genome.wustl.edu 37 3 184001666 184001666 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184001666 184001666 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1264 p.E422K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 81 17 17.35 44 0 0.00 ECE2 9718 genome.wustl.edu 37 3 184008096 184008096 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 184008096 184008096 C G SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1959 p.F653L 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 66 9 12.00 71 0 0.00 ECE2 9718 genome.wustl.edu 37 3 184009181 184009181 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184009181 184009181 C T SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.2429 p.A810V 0.993 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 38 7 15.56 53 0 0.00 ECEL1 9427 genome.wustl.edu 37 2 233348763 233348763 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 233348763 233348763 G A SNP ECEL1 ENST00000304546 human ensembl 70_37 -1 known missense c.1355 p.A452V 0.999 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 27 25 48.08 43 0 0.00 ECH1 1891 genome.wustl.edu 37 19 39306254 39306254 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39306254 39306254 C T SNP ECH1 ENST00000221418 human ensembl 70_37 -1 known silent c.986 p.*329 0.997 NULL pfam_Crotonase_core - no_errors ECH1 HGNC ENSG00000104823 42 11 20.75 61 0 0.00 ECHDC1 55862 genome.wustl.edu 37 6 127611068 127611068 + Nonsense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 6 127611068 127611068 C T SNP ECHDC1 ENST00000531967 human ensembl 70_37 -1 known nonsense c.870 p.W290* 1.000 NULL pfam_Crotonase_core - no_errors ECHDC1 HGNC ENSG00000093144 38 60 61.22 109 0 0.00 ECHDC1 55862 genome.wustl.edu 37 6 127611226 127611226 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 127611226 127611226 C T SNP ECHDC1 ENST00000531967 human ensembl 70_37 -1 known missense c.712 p.E238K 1.000 NULL pfam_Crotonase_core - no_errors ECHDC1 HGNC ENSG00000093144 37 16 30.19 104 0 0.00 ECHDC2 55268 genome.wustl.edu 37 1 53373550 53373550 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 53373550 53373550 C T SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known missense c.354 p.M118I 1.000 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC2 HGNC ENSG00000121310 24 7 22.58 42 0 0.00 ECHDC2 55268 genome.wustl.edu 37 1 53377455 53377455 + Silent SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 53377455 53377455 A G SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known silent c.129 p.T43 0.994 NULL pfam_Crotonase_core - no_errors ECHDC2 HGNC ENSG00000121310 7 3 30.00 35 0 0.00 ECHDC2 55268 genome.wustl.edu 37 1 53387259 53387259 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 53387259 53387259 C T SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known silent c.87 p.E29 0.997 NULL pfam_Crotonase_core - no_errors ECHDC2 HGNC ENSG00000121310 9 5 35.71 9 0 0.00 ECHDC3 79746 genome.wustl.edu 37 10 11797400 11797400 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 11797400 11797400 C T SNP ECHDC3 ENST00000495787 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ECHDC3 HGNC ENSG00000134463 49 91 65.00 194 0 0.00 ECI1 1632 genome.wustl.edu 37 16 2293398 2293398 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2293398 2293398 C T SNP ECI1 ENST00000301729 human ensembl 70_37 -1 known missense c.484 p.D162N 0.999 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECI1 HGNC ENSG00000167969 82 26 24.07 50 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4116174 4116174 + Silent SNP T T C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 4116174 4116174 T C SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known silent c.1119 p.G373 0.001 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 10 29 74.36 59 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4116258 4116258 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 4116258 4116258 C A SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.1035 p.L345F 0.980 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 25 13 34.21 60 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4117592 4117592 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 4117592 4117592 G A SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known nonsense c.979 p.Q327* 1.000 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 18 4 18.18 40 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4128056 4128056 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 4128056 4128056 C G SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.997 pfam_Crotonase_core pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 26 5 16.13 33 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4130608 4130608 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 4130608 4130608 C T SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.499 p.E167K 0.016 pfam_Crotonase_core pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 8 18 69.23 28 0 0.00 ECI2 10455 genome.wustl.edu 37 6 4130835 4130835 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 4130835 4130835 G T SNP ECI2 ENST00000380120 human ensembl 70_37 -1 known missense c.354 p.F118L 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 17 5 22.73 31 0 0.00 ECM1 1893 genome.wustl.edu 37 1 150482445 150482445 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 150482445 150482445 C T SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known silent c.352 p.L118 0.014 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 84 15 15.15 110 0 0.00 ECM1 1893 genome.wustl.edu 37 1 150482469 150482469 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 150482469 150482469 G A SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known missense c.376 p.E126K 0.000 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 51 9 15.00 56 0 0.00 ECM1 1893 genome.wustl.edu 37 1 150483501 150483501 + Missense_Mutation SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 1 150483501 150483501 C G SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known missense c.616 p.Q206E 1.000 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 82 25 23.15 123 0 0.00 ECM1 1893 genome.wustl.edu 37 1 150485845 150485845 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 150485845 150485845 C T SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known silent c.1606 p.L536 0.933 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 27 31 53.45 70 0 0.00 ECM2 1842 genome.wustl.edu 37 9 95263075 95263075 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 95263075 95263075 G C SNP ECM2 ENST00000344604 human ensembl 70_37 -1 known missense c.1865 p.S622C 0.256 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 72 18 20.00 58 0 0.00 ECM2 1842 genome.wustl.edu 37 9 95277023 95277023 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 95277023 95277023 C T SNP ECM2 ENST00000344604 human ensembl 70_37 -1 known missense c.944 p.R315H 0.253 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 71 15 17.44 127 0 0.00 ECSIT 51295 genome.wustl.edu 37 19 11617188 11617188 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11617188 11617188 C T SNP ECSIT ENST00000270517 human ensembl 70_37 -1 known silent c.1107 p.T369 0.031 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 35 46 56.79 61 0 0.00 ECT2 1894 genome.wustl.edu 37 3 172472404 172472404 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 172472404 172472404 G T SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known missense c.84 p.E28D 0.991 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 23 6 20.69 44 0 0.00 ECT2 1894 genome.wustl.edu 37 3 172486809 172486809 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 172486809 172486809 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known missense c.1211 p.S404C 1.000 superfamily_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 72 19 20.88 60 0 0.00 ECT2 1894 genome.wustl.edu 37 3 172501696 172501696 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 172501696 172501696 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known silent c.1632 p.L544 0.398 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 147 24 14.04 38 0 0.00 ECT2 1894 genome.wustl.edu 37 3 172536477 172536477 + Nonsense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 172536477 172536477 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known nonsense c.2702 p.S901* 0.028 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 17 12 41.38 29 0 0.00 ECT2L 345930 genome.wustl.edu 37 6 139165616 139165616 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 139165616 139165616 A G SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.663 p.R221 0.003 NULL pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 11 45 80.36 49 0 0.00 ECT2L 345930 genome.wustl.edu 37 6 139203879 139203879 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 139203879 139203879 G A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.1899 p.L633 0.983 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 43 18 29.51 100 0 0.00 ECT2L 345930 genome.wustl.edu 37 6 139203908 139203908 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 139203908 139203908 C A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known missense c.1928 p.A643D 0.955 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 53 24 31.17 85 0 0.00 ECT2L 345930 genome.wustl.edu 37 6 139206714 139206714 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 139206714 139206714 G A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.2100 p.L700 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 78 26 25.00 132 0 0.00 EDA 1896 genome.wustl.edu 37 X 69176994 69176994 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 69176994 69176994 C T SNP EDA ENST00000502251 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EDA HGNC ENSG00000158813 48 10 17.24 51 0 0.00 EDA 1896 genome.wustl.edu 37 X 69177047 69177047 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 69177047 69177047 G A SNP EDA ENST00000502251 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors EDA HGNC ENSG00000158813 54 22 28.95 45 0 0.00 EDAR 10913 genome.wustl.edu 37 2 109527312 109527312 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 109527312 109527312 G A SNP EDAR ENST00000376651 human ensembl 70_37 -1 known missense c.746 p.S249F 0.000 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC ENSG00000135960 16 4 20.00 44 0 0.00 EDAR 10913 genome.wustl.edu 37 2 109529190 109529190 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109529190 109529190 T G SNP EDAR ENST00000376651 human ensembl 70_37 -1 known missense c.473 p.N158T 0.524 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC ENSG00000135960 23 6 20.69 49 0 0.00 EDARADD 128178 genome.wustl.edu 37 1 236577572 236577572 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 236577572 236577572 C T SNP EDARADD ENST00000334232 human ensembl 70_37 +1 known missense c.133 p.P45S 1.000 NULL pfam_Death,superfamily_DEATH-like - no_errors EDARADD HGNC ENSG00000186197 26 15 36.59 28 0 0.00 EDC3 80153 genome.wustl.edu 37 15 74948272 74948272 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 74948272 74948272 C T SNP EDC3 ENST00000315127 human ensembl 70_37 -1 known missense c.622 p.G208R 1.000 pfam_FDF_dom pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 112 64 36.36 155 0 0.00 EDC3 80153 genome.wustl.edu 37 15 74963937 74963937 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 15 74963937 74963937 G C SNP EDC3 ENST00000315127 human ensembl 70_37 -1 known missense c.343 p.Q115E 1.000 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 149 52 25.74 205 0 0.00 EDC4 23644 genome.wustl.edu 37 16 67910814 67910814 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67910814 67910814 G C SNP EDC4 ENST00000358933 human ensembl 70_37 +1 known missense c.390 p.Q130H 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 216 51 19.10 319 0 0.00 EDC4 23644 genome.wustl.edu 37 16 67917564 67917564 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67917564 67917564 C T SNP EDC4 ENST00000358933 human ensembl 70_37 +1 known nonsense c.3943 p.Q1315* 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 6 10 62.50 28 0 0.00 EDDM3A 10876 genome.wustl.edu 37 14 21216063 21216063 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 21216063 21216063 G C SNP EDDM3A ENST00000326842 human ensembl 70_37 +1 known missense c.324 p.E108D 0.004 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 63 11 14.86 90 0 0.00 EDDM3B 64184 genome.wustl.edu 37 14 21238475 21238475 + Nonsense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 21238475 21238475 G T SNP EDDM3B ENST00000326783 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.002 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain - no_errors EDDM3B HGNC ENSG00000181552 33 4 10.81 34 0 0.00 EDEM1 9695 genome.wustl.edu 37 3 5251877 5251877 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 5251877 5251877 C G SNP EDEM1 ENST00000256497 human ensembl 70_37 +1 known missense c.1527 p.F509L 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 98 38 27.74 154 0 0.00 EDEM2 55741 genome.wustl.edu 37 20 33706307 33706307 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33706307 33706307 G C SNP EDEM2 ENST00000540582 human ensembl 70_37 -1 known missense c.1207 p.Q403E 0.011 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 12 4 25.00 20 0 0.00 EDEM2 55741 genome.wustl.edu 37 20 33706316 33706316 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33706316 33706316 G C SNP EDEM2 ENST00000540582 human ensembl 70_37 -1 known missense c.1198 p.L400V 0.059 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 16 5 23.81 23 0 0.00 EDEM2 55741 genome.wustl.edu 37 20 33734979 33734979 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 33734979 33734979 G A SNP EDEM2 ENST00000374492 human ensembl 70_37 -1 known missense c.83 p.S28F 1.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 21 5 19.23 13 0 0.00 EDEM3 80267 genome.wustl.edu 37 1 184671965 184671965 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 184671965 184671965 G C SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.2369 p.S790C 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 46 19 29.23 70 0 0.00 EDEM3 80267 genome.wustl.edu 37 1 184677335 184677335 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 184677335 184677335 C G SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.1989 p.L663F 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 18 17 47.22 54 0 0.00 EDEM3 80267 genome.wustl.edu 37 1 184681603 184681603 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 184681603 184681603 G C SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known silent c.1500 p.L500 0.036 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 35 19 35.19 132 0 0.00 EDEM3 80267 genome.wustl.edu 37 1 184681623 184681623 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 184681623 184681623 G A SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.1480 p.H494Y 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 35 22 37.93 129 0 0.00 EDEM3 80267 genome.wustl.edu 37 1 184703699 184703699 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 184703699 184703699 C T SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.424 p.V142I 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 51 19 27.14 67 0 0.00 EDF1 8721 genome.wustl.edu 37 9 139757835 139757835 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139757835 139757835 C T SNP EDF1 ENST00000224073 human ensembl 70_37 -1 known missense c.196 p.E66K 1.000 pfam_MBF1_N pfam_MBF1_N,pfam_HTH_3,superfamily_Lambda_DNA-bd_dom,smart_HTH_3,pfscan_HTH_3 - no_errors EDF1 HGNC ENSG00000107223 54 36 40.00 96 0 0.00 EDIL3 10085 genome.wustl.edu 37 5 83239278 83239278 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 83239278 83239278 G T SNP EDIL3 ENST00000296591 human ensembl 70_37 -1 known missense c.1403 p.T468K 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 29 4 12.12 79 0 0.00 EDIL3 10085 genome.wustl.edu 37 5 83360566 83360566 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 83360566 83360566 C T SNP EDIL3 ENST00000296591 human ensembl 70_37 -1 known missense c.905 p.R302Q 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 81 11 11.96 118 0 0.00 EDIL3 10085 genome.wustl.edu 37 5 83549955 83549955 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 83549955 83549955 C T SNP EDIL3 ENST00000296591 human ensembl 70_37 -1 known missense c.143 p.C48Y 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 23 9 28.12 37 0 0.00 EDN1 1906 genome.wustl.edu 37 6 12294300 12294300 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 12294300 12294300 G A SNP EDN1 ENST00000379375 human ensembl 70_37 +1 known nonsense c.360 p.W120* 1.000 smart_Endothln-like_toxin pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 25 13 34.21 20 0 0.00 EDN2 1907 genome.wustl.edu 37 1 41949753 41949753 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 41949753 41949753 G A SNP EDN2 ENST00000372587 human ensembl 70_37 -1 known silent c.186 p.F62 1.000 pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN2 HGNC ENSG00000127129 42 22 34.38 80 0 0.00 EDNRA 1909 genome.wustl.edu 37 4 148407187 148407187 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 148407187 148407187 G A SNP EDNRA ENST00000324300 human ensembl 70_37 +1 known silent c.354 p.L118 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 151 65 30.09 185 0 0.00 EDNRA 1909 genome.wustl.edu 37 4 148463720 148463720 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 148463720 148463720 C G SNP EDNRA ENST00000324300 human ensembl 70_37 +1 known missense c.1234 p.Q412E 1.000 prints_ETA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 21 4 16.00 26 0 0.00 EDNRA 1909 genome.wustl.edu 37 4 148463811 148463811 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 148463811 148463811 C T SNP EDNRA ENST00000503721 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EDNRA HGNC ENSG00000151617 15 9 37.50 15 0 0.00 EDNRA 1909 genome.wustl.edu 37 4 148464977 148464978 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 148464977 148464978 - A INS EDNRA ENST00000503721 human ensembl 70_37 +1 known rna NULL NULL 0.020:0.001 - - - no_errors EDNRA HGNC ENSG00000151617 71 15 17.44 62 0 0.00 EDNRB 1910 genome.wustl.edu 37 13 78475207 78475207 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 13 78475207 78475207 C G SNP EDNRB ENST00000334286 human ensembl 70_37 -1 known missense c.937 p.D313H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 45 32 41.56 69 0 0.00 EDNRB 1910 genome.wustl.edu 37 13 78492486 78492486 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 78492486 78492486 C T SNP EDNRB ENST00000334286 human ensembl 70_37 -1 known missense c.223 p.D75N 0.014 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 101 15 12.93 124 0 0.00 EEA1 8411 genome.wustl.edu 37 12 93213230 93213230 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 93213230 93213230 G A SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.1582 p.L528F 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 11 6 35.29 29 0 0.00 EEA1 8411 genome.wustl.edu 37 12 93226593 93226593 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 93226593 93226593 C T SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.949 p.D317N 0.992 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 62 11 15.07 38 0 0.00 EEA1 8411 genome.wustl.edu 37 12 93285460 93285460 + Missense_Mutation SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 93285460 93285460 T A SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.62 p.D21V 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 42 14 25.00 53 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74227940 74227940 + Silent SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 74227940 74227940 A C SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known silent c.1077 p.P359 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 49 7 12.50 34 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74228826 74228826 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 74228826 74228826 G A SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known silent c.450 p.V150 0.997 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 23 4 14.81 23 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74228875 74228875 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 74228875 74228875 C T SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.401 p.R134Q 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 35 5 12.50 90 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74228906 74228906 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74228906 74228906 C G SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.370 p.E124Q 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 30 17 36.17 43 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74229171 74229171 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74229171 74229171 G C SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.213 p.I71M 1.000 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 41 20 32.79 56 0 0.00 EEF1A1 1915 genome.wustl.edu 37 6 74229671 74229671 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74229671 74229671 G C SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.79 p.L27V 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 58 25 30.12 85 0 0.00 EEF1A2 1917 genome.wustl.edu 37 20 62121919 62121919 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 20 62121919 62121919 G A SNP EEF1A2 ENST00000217182 human ensembl 70_37 -1 known silent c.942 p.N314 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 95 62 39.49 100 0 0.00 EEF1A2 1917 genome.wustl.edu 37 20 62121960 62121960 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 62121960 62121960 C T SNP EEF1A2 ENST00000217182 human ensembl 70_37 -1 known missense c.901 p.E301K 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 36 39 52.00 59 0 0.00 EEF1A2 1917 genome.wustl.edu 37 20 62126344 62126344 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 62126344 62126344 C T SNP EEF1A2 ENST00000217182 human ensembl 70_37 -1 known silent c.435 p.V145 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 32 30 48.39 39 0 0.00 EEF1B2 1933 genome.wustl.edu 37 2 207027539 207027539 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 207027539 207027539 G C SNP EEF1B2 ENST00000236957 human ensembl 70_37 +1 known missense c.610 p.E204Q 1.000 pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 28 14 33.33 91 0 0.00 EEF1D 1936 genome.wustl.edu 37 8 144671934 144671934 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 144671934 144671934 G T SNP EEF1D ENST00000423316 human ensembl 70_37 -1 known silent c.318 p.L106 0.992 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 5 17 77.27 37 0 0.00 EEF1DP3 196549 genome.wustl.edu 37 13 32526817 32526817 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 32526817 32526817 C G SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 0.766 - - - no_errors EEF1DP3 HGNC ENSG00000229715 25 18 41.86 36 0 0.00 EEF1DP3 196549 genome.wustl.edu 37 13 32527156 32527156 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 32527156 32527156 G A SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 54 19 26.03 73 0 0.00 EEF1DP3 196549 genome.wustl.edu 37 13 32527401 32527401 + RNA SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 32527401 32527401 T C SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 27 8 22.86 38 0 0.00 EEF1E1 9521 genome.wustl.edu 37 6 8097678 8097678 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 8097678 8097678 T C SNP EEF1E1 ENST00000379715 human ensembl 70_37 -1 known missense c.110 p.N37S 0.999 NULL pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 26 19 42.22 48 0 0.00 EEF1G 1937 genome.wustl.edu 37 11 62327819 62327819 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62327819 62327819 C T SNP EEF1G ENST00000378019 human ensembl 70_37 -1 known nonsense c.1115 p.W372* 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 28 9 24.32 50 0 0.00 EEF2 1938 genome.wustl.edu 37 19 3977937 3977937 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 3977937 3977937 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.1947 p.I649 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 39 5 11.36 53 0 0.00 EEF2 1938 genome.wustl.edu 37 19 3978083 3978083 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 3978083 3978083 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known missense c.1801 p.R601W 1.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 72 29 28.71 100 0 0.00 EEF2 1938 genome.wustl.edu 37 19 3979965 3979965 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 3979965 3979965 C T SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.1446 p.T482 0.003 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 35 12 25.53 31 0 0.00 EEF2 1938 genome.wustl.edu 37 19 3984204 3984204 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3984204 3984204 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known missense c.148 p.R50W 1.000 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 91 71 43.56 112 0 0.00 EEF2 1938 genome.wustl.edu 37 19 3984340 3984340 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3984340 3984340 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.12 p.F4 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 139 33 19.08 201 0 0.00 EEF2K 29904 genome.wustl.edu 37 16 22237288 22237288 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 22237288 22237288 C T SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known missense c.238 p.H80Y 0.996 superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 47 6 11.32 54 0 0.00 EEF2K 29904 genome.wustl.edu 37 16 22260107 22260107 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 22260107 22260107 G C SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known missense c.379 p.D127H 1.000 superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 55 28 33.73 68 0 0.00 EEF2K 29904 genome.wustl.edu 37 16 22268579 22268579 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 22268579 22268579 C T SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known silent c.774 p.F258 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 18 10 35.71 39 0 0.00 EEF2K 29904 genome.wustl.edu 37 16 22268678 22268678 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 16 22268678 22268678 G T SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known silent c.873 p.T291 0.002 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 43 5 10.42 34 0 0.00 EFCAB1 79645 genome.wustl.edu 37 8 49642371 49642371 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 49642371 49642371 G A SNP EFCAB1 ENST00000262103 human ensembl 70_37 -1 known missense c.379 p.H127Y 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 - no_errors EFCAB1 HGNC ENSG00000034239 34 5 12.50 47 0 0.00 EFCAB10 100130771 genome.wustl.edu 37 7 105209661 105209661 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 105209661 105209661 G A SNP EFCAB10 ENST00000480514 human ensembl 70_37 -1 known silent c.348 p.F116 0.985 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b,pfscan_EF_HAND_2 - no_errors EFCAB10 HGNC ENSG00000185055 8 11 57.89 63 0 0.00 EFCAB12 90288 genome.wustl.edu 37 3 129127506 129127506 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 3 129127506 129127506 C T SNP EFCAB12 ENST00000326085 human ensembl 70_37 -1 known missense c.1231 p.E411K 0.852 NULL pfscan_EF_HAND_2 - no_errors EFCAB12 HGNC ENSG00000172771 35 33 48.53 60 0 0.00 EFCAB13 124989 genome.wustl.edu 37 17 45481351 45481351 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 45481351 45481351 G C SNP EFCAB13 ENST00000331493 human ensembl 70_37 +1 known missense c.2125 p.E709Q 0.503 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 29 6 17.14 26 0 0.00 EFCAB13 124989 genome.wustl.edu 37 17 45490240 45490240 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 45490240 45490240 G A SNP EFCAB13 ENST00000331493 human ensembl 70_37 +1 known missense c.2380 p.E794K 0.594 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 41 27 39.71 81 0 0.00 EFCAB3 146779 genome.wustl.edu 37 17 60491167 60491167 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 60491167 60491167 G C SNP EFCAB3 ENST00000450662 human ensembl 70_37 +1 known missense c.1098 p.K366N 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC ENSG00000172421 89 19 17.59 125 0 0.00 EFCAB3 146779 genome.wustl.edu 37 17 60493572 60493572 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 60493572 60493572 A G SNP EFCAB3 ENST00000450662 human ensembl 70_37 +1 known missense c.1355 p.Y452C 0.011 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC ENSG00000172421 30 12 28.57 55 0 0.00 EFCAB4A 283229 genome.wustl.edu 37 11 828915 828915 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 828915 828915 C T SNP EFCAB4A ENST00000450448 human ensembl 70_37 +1 known missense c.229 p.R77W 0.981 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC ENSG00000177685 16 19 54.29 27 0 0.00 EFCAB4A 283229 genome.wustl.edu 37 11 829993 829993 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 829993 829993 G T SNP EFCAB4A ENST00000450448 human ensembl 70_37 +1 known missense c.466 p.A156S 0.026 NULL pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC ENSG00000177685 12 5 29.41 11 0 0.00 EFCAB4A 283229 genome.wustl.edu 37 11 831574 831574 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 831574 831574 C T SNP EFCAB4A ENST00000525077 human ensembl 70_37 +1 novel silent c.1065 p.C355 0.973 NULL pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC ENSG00000177685 22 10 31.25 57 0 0.00 EFCAB4B 84766 genome.wustl.edu 37 12 3736711 3736711 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 3736711 3736711 C T SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known missense c.1823 p.R608Q 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 30 15 33.33 47 0 0.00 EFCAB4B 84766 genome.wustl.edu 37 12 3757688 3757688 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 3757688 3757688 G C SNP EFCAB4B ENST00000252322 human ensembl 70_37 -1 known missense c.1138 p.P380A 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB4B HGNC ENSG00000130038 15 6 28.57 57 0 0.00 EFCAB4B 84766 genome.wustl.edu 37 12 3763514 3763514 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 3763514 3763514 C A SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known nonsense c.910 p.E304* 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 31 26 45.61 67 0 0.00 EFCAB4B 84766 genome.wustl.edu 37 12 3782683 3782683 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 3782683 3782683 G T SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known missense c.600 p.F200L 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 49 33 40.24 100 0 0.00 EFCAB5 374786 genome.wustl.edu 37 17 28320319 28320319 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 28320319 28320319 G T SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known nonsense c.904 p.G302* 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 9 7 43.75 27 0 0.00 EFCAB5 374786 genome.wustl.edu 37 17 28380537 28380537 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 28380537 28380537 C T SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known missense c.1565 p.S522L 0.001 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 17 9 34.62 23 0 0.00 EFCAB5 374786 genome.wustl.edu 37 17 28382920 28382920 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 28382920 28382920 G A SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known missense c.2209 p.E737K 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 37 24 39.34 53 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 43950824 43950824 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 43950824 43950824 C T SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.3573 p.M1191I 0.000 smart_EF_hand_Ca-bd pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 71 44 38.26 101 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 43950956 43950956 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 43950956 43950956 C G SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.3441 p.E1147D 1.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 41 23 35.94 65 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 44028049 44028049 + Missense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 22 44028049 44028049 C A SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.2168 p.S723I 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 82 36 30.51 96 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 44063043 44063043 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 44063043 44063043 G A SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known nonsense c.1924 p.R642* 0.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 49 18 26.87 93 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 44083357 44083357 C G SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.1136 p.R379T 0.010 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 29 30 42.25 74 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 44112776 44112776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 44112776 44112776 G C SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.834 p.I278M 0.602 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 71 14 16.47 103 0 0.00 EFCAB6 64800 genome.wustl.edu 37 22 44193200 44193200 + RNA SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 44193200 44193200 T C SNP EFCAB6 ENST00000476600 human ensembl 70_37 -1 known rna NULL NULL 0.104 - - - no_errors EFCAB6 HGNC ENSG00000186976 53 33 38.37 54 0 0.00 EFCAB7 84455 genome.wustl.edu 37 1 63998408 63998408 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 63998408 63998408 G A SNP EFCAB7 ENST00000371088 human ensembl 70_37 +1 known missense c.467 p.G156D 1.000 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ENSG00000203965 34 4 10.26 26 0 0.00 EFCAB7 84455 genome.wustl.edu 37 1 63998424 63998424 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 63998424 63998424 C T SNP EFCAB7 ENST00000371088 human ensembl 70_37 +1 known silent c.483 p.I161 0.743 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ENSG00000203965 44 11 20.00 37 0 0.00 EFCAB9 285588 genome.wustl.edu 37 5 171621181 171621181 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 171621181 171621181 G C SNP EFCAB9 ENST00000398186 human ensembl 70_37 +1 known missense c.5 p.R2T 0.993 NULL pfscan_EF_HAND_2 - no_errors EFCAB9 HGNC ENSG00000214360 86 20 18.87 42 0 0.00 EFCAB9 285588 genome.wustl.edu 37 5 171630308 171630308 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 171630308 171630308 G C SNP EFCAB9 ENST00000398186 human ensembl 70_37 +1 known missense c.553 p.E185Q 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB9 HGNC ENSG00000214360 34 19 35.85 36 0 0.00 EFEMP1 2202 genome.wustl.edu 37 2 56149652 56149652 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 56149652 56149652 G A SNP EFEMP1 ENST00000497698 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EFEMP1 HGNC ENSG00000115380 15 6 28.57 26 0 0.00 EFEMP2 30008 genome.wustl.edu 37 11 65634130 65634130 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 65634130 65634130 G A SNP EFEMP2 ENST00000528176 human ensembl 70_37 -1 putative silent c.1224 p.V408 0.000 NULL pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 20 7 25.93 24 0 0.00 EFEMP2 30008 genome.wustl.edu 37 11 65637669 65637669 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 65637669 65637669 C T SNP EFEMP2 ENST00000307998 human ensembl 70_37 -1 known missense c.530 p.C177Y 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 66 30 31.25 79 0 0.00 MICU2 221154 genome.wustl.edu 37 13 22178093 22178093 + Silent SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 22178093 22178093 A G SNP EFHA1 ENST00000382374 human ensembl 70_37 -1 known silent c.195 p.F65 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA1 HGNC ENSG00000165487 42 13 23.64 53 0 0.00 MICU3 286097 genome.wustl.edu 37 8 16944530 16944530 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16944530 16944530 A G SNP EFHA2 ENST00000318063 human ensembl 70_37 +1 known missense c.835 p.K279E 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC ENSG00000155970 18 4 18.18 38 0 0.00 MICU3 286097 genome.wustl.edu 37 8 16962944 16962944 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 16962944 16962944 G C SNP EFHA2 ENST00000318063 human ensembl 70_37 +1 known missense c.1108 p.E370Q 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC ENSG00000155970 37 16 30.19 68 0 0.00 EFHB 151651 genome.wustl.edu 37 3 19925929 19925929 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 19925929 19925929 C A SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.2112 p.E704D 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000163576 17 8 32.00 29 0 0.00 EFHB 151651 genome.wustl.edu 37 3 19926048 19926048 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 19926048 19926048 G A SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.1993 p.L665F 0.069 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000163576 66 51 43.59 57 0 0.00 EFHB 151651 genome.wustl.edu 37 3 19947139 19947139 + Missense_Mutation SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 19947139 19947139 G C SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.1391 p.S464C 0.906 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000163576 62 42 40.38 86 0 0.00 EFHB 151651 genome.wustl.edu 37 3 19974996 19974996 + Missense_Mutation SNP T T G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 19974996 19974996 T G SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.515 p.E172A 0.382 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000163576 37 26 41.27 56 0 0.00 EFHB 151651 genome.wustl.edu 37 3 19988414 19988414 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 19988414 19988414 G T SNP EFHB ENST00000474780 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors EFHB HGNC ENSG00000163576 22 4 15.38 20 0 0.00 EFHC1 114327 genome.wustl.edu 37 6 52288785 52288785 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 52288785 52288785 C A SNP EFHC1 ENST00000371068 human ensembl 70_37 +1 known missense c.105 p.N35K 0.168 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC1 HGNC ENSG00000096093 20 9 31.03 51 0 0.00 EFHC1 114327 genome.wustl.edu 37 6 52344532 52344532 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 52344532 52344532 G A SNP EFHC1 ENST00000371068 human ensembl 70_37 +1 known silent c.1587 p.A529 0.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC1 HGNC ENSG00000096093 54 71 56.80 64 0 0.00 EFHC2 80258 genome.wustl.edu 37 X 44091896 44091896 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 44091896 44091896 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1451 p.R484T 1.000 pfam_DUF1126,smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC ENSG00000183690 64 8 10.96 52 0 0.00 EFHC2 80258 genome.wustl.edu 37 X 44101443 44101443 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 44101443 44101443 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1204 p.D402H 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC ENSG00000183690 42 38 46.91 91 0 0.00 EFHC2 80258 genome.wustl.edu 37 X 44101485 44101485 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 44101485 44101485 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1162 p.E388Q 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC ENSG00000183690 50 40 44.44 67 0 0.00 EFHD1 80303 genome.wustl.edu 37 2 233527528 233527528 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 233527528 233527528 G A SNP EFHD1 ENST00000264059 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHD1 HGNC ENSG00000115468 33 6 15.38 66 0 0.00 EFNA1 1942 genome.wustl.edu 37 1 155100407 155100407 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155100407 155100407 C G SNP EFNA1 ENST00000469878 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors EFNA1 HGNC ENSG00000169242 45 14 23.73 55 0 0.00 EFNA1 1942 genome.wustl.edu 37 1 155100462 155100462 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 155100462 155100462 C T SNP EFNA1 ENST00000368407 human ensembl 70_37 +1 known silent c.9 p.F3 0.993 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC ENSG00000169242 64 20 23.81 37 0 0.00 EFNA5 1946 genome.wustl.edu 37 5 106716822 106716825 + RNA DEL GAAA GAAA - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 106716822 106716825 GAAA - DEL EFNA5 ENST00000510359 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors EFNA5 HGNC ENSG00000184349 4 4 50.00 13 0 0.00 EFNA5 1946 genome.wustl.edu 37 5 106716965 106716965 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 106716965 106716965 C T SNP EFNA5 ENST00000333274 human ensembl 70_37 -1 known silent c.678 p.L226 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 30 14 31.82 52 0 0.00 EFNA5 1946 genome.wustl.edu 37 5 106717040 106717040 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 106717040 106717040 G A SNP EFNA5 ENST00000333274 human ensembl 70_37 -1 known silent c.603 p.G201 0.704 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 63 8 11.11 80 0 0.00 EFNB1 1947 genome.wustl.edu 37 X 68058517 68058517 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 68058517 68058517 C T SNP EFNB1 ENST00000204961 human ensembl 70_37 +1 known silent c.186 p.I62 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 93 19 16.96 100 0 0.00 EFNB1 1947 genome.wustl.edu 37 X 68059873 68059873 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 68059873 68059873 G A SNP EFNB1 ENST00000204961 human ensembl 70_37 +1 known silent c.570 p.K190 0.270 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 30 11 26.83 29 0 0.00 EFNB2 1948 genome.wustl.edu 37 13 107145421 107145421 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 107145421 107145421 C T SNP EFNB2 ENST00000245323 human ensembl 70_37 -1 known silent c.969 p.P323 0.127 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 45 14 23.73 58 0 0.00 EFNB2 1948 genome.wustl.edu 37 13 107148128 107148128 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 13 107148128 107148128 C T SNP EFNB2 ENST00000245323 human ensembl 70_37 -1 known missense c.467 p.R156K 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 31 9 21.95 52 0 0.00 EFR3A 23167 genome.wustl.edu 37 8 132968055 132968055 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 132968055 132968055 G C SNP EFR3A ENST00000254624 human ensembl 70_37 +1 known missense c.679 p.E227Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 73 31 29.81 80 0 0.00 EFR3B 22979 genome.wustl.edu 37 2 25315919 25315919 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 25315919 25315919 C G SNP EFR3B ENST00000403714 human ensembl 70_37 +1 known silent c.132 p.L44 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 37 19 33.33 37 0 0.00 EFS 10278 genome.wustl.edu 37 14 23828654 23828654 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 23828654 23828654 G T SNP EFS ENST00000216733 human ensembl 70_37 -1 known missense c.1033 p.P345T 1.000 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 33 4 10.81 36 0 0.00 EFTUD1 79631 genome.wustl.edu 37 15 82443950 82443950 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 82443950 82443950 G A SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known missense c.2845 p.P949S 0.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 67 19 22.09 111 0 0.00 EFTUD1 79631 genome.wustl.edu 37 15 82512459 82512459 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 82512459 82512459 C T SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known silent c.1404 p.G468 0.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 42 17 28.81 28 0 0.00 EFTUD1 79631 genome.wustl.edu 37 15 82512459 82512459 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 82512459 82512459 C T SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known silent c.1404 p.G468 0.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 63 15 19.23 341 0 0.00 EFTUD1 79631 genome.wustl.edu 37 15 82533678 82533678 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 82533678 82533678 G C SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known nonsense c.311 p.S104* 0.995 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 64 22 25.29 90 0 0.00 EFTUD1 79631 genome.wustl.edu 37 15 82551473 82551473 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 82551473 82551473 G A SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known missense c.115 p.L39F 1.000 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 93 61 39.61 62 0 0.00 EFTUD1P1 648809 genome.wustl.edu 37 15 84748921 84748921 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 84748921 84748921 G C SNP EFTUD1P1 ENST00000558187 human ensembl 70_37 +1 known rna NULL NULL 0.173 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 77 23 23.00 37 0 0.00 EFTUD2 9343 genome.wustl.edu 37 17 42928702 42928702 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42928702 42928702 G A SNP EFTUD2 ENST00000426333 human ensembl 70_37 -1 known silent c.2859 p.F953 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 6 3 33.33 16 0 0.00 EFTUD2 9343 genome.wustl.edu 37 17 42930947 42930947 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 42930947 42930947 G A SNP EFTUD2 ENST00000426333 human ensembl 70_37 -1 known missense c.2404 p.H802Y 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 51 21 29.17 69 0 0.00 EFTUD2 9343 genome.wustl.edu 37 17 42949823 42949823 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 42949823 42949823 C T SNP EFTUD2 ENST00000426333 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 6 17 73.91 25 0 0.00 EGF 1950 genome.wustl.edu 37 4 110897270 110897270 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 110897270 110897270 C T SNP EGF ENST00000265171 human ensembl 70_37 +1 known silent c.1932 p.P644 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Pro-epidermal_GF,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 63 7 10.00 98 0 0.00 EGF 1950 genome.wustl.edu 37 4 110914420 110914420 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 110914420 110914420 C G SNP EGF ENST00000265171 human ensembl 70_37 +1 known missense c.2752 p.L918V 0.297 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 24 15 38.46 38 0 0.00 EGFL6 25975 genome.wustl.edu 37 X 13636149 13636149 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 13636149 13636149 G A SNP EGFL6 ENST00000380602 human ensembl 70_37 +1 known missense c.1079 p.R360Q 0.000 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 17 3 15.00 18 0 0.00 EGFL6 25975 genome.wustl.edu 37 X 13645279 13645279 + Nonsense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 13645279 13645279 C T SNP EGFL6 ENST00000380602 human ensembl 70_37 +1 known nonsense c.1438 p.R480* 0.990 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 43 8 15.69 38 0 0.00 EGFL7 51162 genome.wustl.edu 37 9 139564113 139564113 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 139564113 139564113 C T SNP EGFL7 ENST00000308874 human ensembl 70_37 +1 known missense c.253 p.R85C 0.674 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EGF-like_Ca-bd,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL7 HGNC ENSG00000172889 30 21 41.18 61 0 0.00 EGFL8 80864 genome.wustl.edu 37 6 32134314 32134314 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 32134314 32134314 C G SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known silent c.141 p.L47 0.997 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 20 29 59.18 42 0 0.00 EGFL8 80864 genome.wustl.edu 37 6 32134696 32134696 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 32134696 32134696 C T SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known missense c.344 p.A115V 0.977 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 26 8 23.53 45 0 0.00 EGFL8 80864 genome.wustl.edu 37 6 32135384 32135384 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 32135384 32135384 C T SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known silent c.786 p.I262 0.998 NULL pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 135 21 13.46 102 0 0.00 EGFLAM 133584 genome.wustl.edu 37 5 38370504 38370504 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 38370504 38370504 G T SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.652 p.A218S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 36 5 12.20 61 0 0.00 EGFLAM 133584 genome.wustl.edu 37 5 38407217 38407217 + Silent SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 38407217 38407217 C A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known silent c.1116 p.T372 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 19 9 32.14 15 0 0.00 EGFLAM 133584 genome.wustl.edu 37 5 38412643 38412643 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38412643 38412643 G A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.1387 p.E463K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 50 17 25.37 68 0 0.00 EGFLAM 133584 genome.wustl.edu 37 5 38427292 38427292 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38427292 38427292 C G SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.1992 p.I664M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 16 15 48.39 51 0 0.00 EGFLAM 133584 genome.wustl.edu 37 5 38427342 38427342 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 38427342 38427342 C A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.2042 p.T681N 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 30 4 11.76 49 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55214393 55214393 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 55214393 55214393 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known silent c.519 p.L173 0.009 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 43 23 34.85 55 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55224461 55224461 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 55224461 55224461 C T SNP EGFR ENST00000275493 human ensembl 70_37 +1 known silent c.1143 p.F381 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 140 24 14.63 87 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55231442 55231442 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 55231442 55231442 G C SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.1648 p.V550L 0.997 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 17 6 26.09 40 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55238200 55238200 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 55238200 55238200 C G SNP EGFR ENST00000344576 human ensembl 70_37 +1 known missense c.2081 p.S694C 0.000 NULL pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat - no_errors EGFR HGNC ENSG00000146648 26 13 33.33 62 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55240568 55240568 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 55240568 55240568 C T SNP EGFR ENST00000442591 human ensembl 70_37 +1 known missense c.1949 p.S650L 0.000 smart_Furin_repeat pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat - no_errors EGFR HGNC ENSG00000146648 19 13 40.62 53 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55242423 55242423 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 55242423 55242423 G A SNP EGFR ENST00000275493 human ensembl 70_37 +1 known nonsense c.2193 p.W731* 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 39 17 30.36 55 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55249069 55249069 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 55249069 55249069 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.2367 p.I789M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 75 26 25.49 145 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55249087 55249087 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 55249087 55249087 C T SNP EGFR ENST00000275493 human ensembl 70_37 +1 known silent c.2385 p.F795 0.896 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 25 19 43.18 45 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55249134 55249134 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 55249134 55249134 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.2432 p.S811C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 58 21 26.58 102 0 0.00 EGFR 1956 genome.wustl.edu 37 7 55272966 55272966 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 7 55272966 55272966 G A SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.3289 p.V1097I 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 13 9 40.91 33 0 0.00 EGLN1 54583 genome.wustl.edu 37 1 231556755 231556755 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 231556755 231556755 C T SNP EGLN1 ENST00000366641 human ensembl 70_37 -1 known missense c.880 p.G294S 1.000 smart_Pro_4_hyd_alph pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 114 102 47.22 204 0 0.00 EGR1 1958 genome.wustl.edu 37 5 137801471 137801471 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 137801471 137801471 G A SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known silent c.21 p.E7 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 25 10 28.57 35 0 0.00 EGR1 1958 genome.wustl.edu 37 5 137801512 137801512 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 137801512 137801512 G A SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known missense c.62 p.G21E 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 66 14 17.50 60 0 0.00 EGR1 1958 genome.wustl.edu 37 5 137803193 137803193 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 137803193 137803193 C T SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known missense c.1055 p.S352F 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 50 10 16.67 37 0 0.00 EGR1 1958 genome.wustl.edu 37 5 137803396 137803396 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 137803396 137803396 C T SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known missense c.1258 p.R420W 0.892 pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 41 16 28.07 87 0 0.00 EGR3 1960 genome.wustl.edu 37 8 22548785 22548785 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 22548785 22548785 G A SNP EGR3 ENST00000317216 human ensembl 70_37 -1 known missense c.365 p.T122M 1.000 pfam_DUF3446 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 59 18 23.38 43 0 0.00 EGR4 1961 genome.wustl.edu 37 2 73519561 73519561 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 73519561 73519561 G A SNP EGR4 ENST00000545030 human ensembl 70_37 -1 known missense c.794 p.S265L 0.958 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 14 3 17.65 19 0 0.00 EGR4 1961 genome.wustl.edu 37 2 73520479 73520479 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 73520479 73520479 C T SNP EGR4 ENST00000545030 human ensembl 70_37 -1 known silent c.276 p.A92 0.331 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 37 5 11.90 23 0 0.00 EHBP1 23301 genome.wustl.edu 37 2 63101602 63101602 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 63101602 63101602 C T SNP EHBP1 ENST00000263991 human ensembl 70_37 +1 known missense c.1225 p.P409S 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 25 4 13.79 27 0 0.00 EHBP1L1 254102 genome.wustl.edu 37 11 65349326 65349326 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 65349326 65349326 G A SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.1183 p.E395K 0.219 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 8 14 63.64 47 0 0.00 EHBP1L1 254102 genome.wustl.edu 37 11 65349660 65349660 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 65349660 65349660 G C SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.1517 p.R506T 0.006 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 7 4 36.36 16 0 0.00 EHBP1L1 254102 genome.wustl.edu 37 11 65351108 65351108 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 65351108 65351108 G C SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.2965 p.E989Q 0.065 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 19 3 13.64 29 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64622129 64622129 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 64622129 64622129 G A SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.1281 p.G427 0.443 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 51 32 38.55 20 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64622268 64622268 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 64622268 64622268 G T SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known missense c.1142 p.T381K 0.998 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 81 18 18.18 90 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64627615 64627615 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 64627615 64627615 C G SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.696 p.V232 0.918 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 48 17 26.15 66 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64627690 64627690 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 64627690 64627690 C T SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 55 25 31.25 91 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64627702 64627702 + Silent SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 64627702 64627702 C G SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.609 p.V203 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 30 23 43.40 46 0 0.00 EHD1 10938 genome.wustl.edu 37 11 64645608 64645608 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64645608 64645608 G A SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known missense c.329 p.P110L 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 27 10 27.03 78 0 0.00 EHD2 30846 genome.wustl.edu 37 19 48229265 48229265 + Nonsense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 48229265 48229265 C A SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known nonsense c.699 p.Y233* 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 43 5 10.42 35 0 0.00 EHD2 30846 genome.wustl.edu 37 19 48244378 48244378 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 48244378 48244378 G A SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 43 8 15.69 47 0 0.00 EHD2 30846 genome.wustl.edu 37 19 48244575 48244575 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 48244575 48244575 C T SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known silent c.1518 p.F506 0.998 smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 44 23 34.33 69 0 0.00 EHD3 30845 genome.wustl.edu 37 2 31483537 31483537 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 31483537 31483537 G A SNP EHD3 ENST00000322054 human ensembl 70_37 +1 known missense c.664 p.D222N 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 38 39 50.65 56 0 0.00 EHD3 30845 genome.wustl.edu 37 2 31489256 31489256 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 31489256 31489256 G A SNP EHD3 ENST00000322054 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 29 6 17.14 33 0 0.00 EHD4 30844 genome.wustl.edu 37 15 42192914 42192914 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42192914 42192914 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.1555 p.E519K 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 35 9 20.45 27 0 0.00 EHD4 30844 genome.wustl.edu 37 15 42193115 42193115 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 42193115 42193115 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.1354 p.D452N 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 41 6 12.77 64 0 0.00 EHD4 30844 genome.wustl.edu 37 15 42211424 42211424 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 42211424 42211424 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.908 p.R303Q 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 40 12 23.08 41 0 0.00 EHF 26298 genome.wustl.edu 37 11 34668238 34668238 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 34668238 34668238 C T SNP EHF ENST00000527935 human ensembl 70_37 +1 putative missense c.350 p.S117F 0.059 superfamily_SAM/pointed pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom - no_errors EHF HGNC ENSG00000135373 166 47 22.07 223 0 0.00 EHHADH 1962 genome.wustl.edu 37 3 184935936 184935936 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184935936 184935936 G A SNP EHHADH ENST00000231887 human ensembl 70_37 -1 known nonsense c.556 p.Q186* 0.168 NULL pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 52 11 17.46 30 0 0.00 EHHADH 1962 genome.wustl.edu 37 3 184953231 184953231 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 184953231 184953231 G A SNP EHHADH ENST00000231887 human ensembl 70_37 -1 known silent c.198 p.F66 0.451 pfam_Crotonase_core pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 7 3 30.00 10 0 0.00 EHHADH 1962 genome.wustl.edu 37 3 184971748 184971748 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 184971748 184971748 G A SNP EHHADH ENST00000231887 human ensembl 70_37 -1 known silent c.63 p.V21 0.994 pfam_Crotonase_core pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 17 20 54.05 31 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140605430 140605430 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 140605430 140605430 G A SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.33 p.A11 0.062 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 36 13 26.53 75 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140611105 140611105 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140611105 140611105 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.113 p.S38L 0.750 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 32 35 52.24 65 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140622861 140622861 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 140622861 140622861 G T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known nonsense c.703 p.E235* 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 47 33 41.25 69 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140669695 140669695 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140669695 140669695 C G SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.1782 p.F594L 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 31 4 11.43 40 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140669695 140669695 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140669695 140669695 C G SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.1782 p.F594L 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 40 8 16.67 31 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140672487 140672487 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 140672487 140672487 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.2172 p.L724 0.986 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 33 10 23.26 50 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140707511 140707511 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 140707511 140707511 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.2921 p.T974M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 28 12 30.00 43 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140711934 140711934 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 140711934 140711934 G A SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.3418 p.V1140M 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 47 14 22.95 83 0 0.00 EHMT1 79813 genome.wustl.edu 37 9 140729282 140729282 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140729282 140729282 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.3774 p.C1258 0.978 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 52 20 27.78 44 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31848475 31848475 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 31848475 31848475 C G SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.3598 p.D1200H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 35 5 12.50 49 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31848581 31848581 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31848581 31848581 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.3492 p.I1164 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 10 6 37.50 26 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31850709 31850709 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31850709 31850709 C G SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.3243 p.W1081C 1.000 pfam_Pre-SET_dom,pfscan_Pre-SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 29 21 42.00 37 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31855591 31855591 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 31855591 31855591 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.2064 p.A688 0.998 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 38 7 15.56 40 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31855658 31855658 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 31855658 31855658 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.1997 p.S666F 0.978 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 21 10 32.26 29 0 0.00 EHMT2 10919 genome.wustl.edu 37 6 31864229 31864229 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 31864229 31864229 C T SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.564 p.K188 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 49 6 10.91 38 0 0.00 EI24 9538 genome.wustl.edu 37 11 125447446 125447446 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 125447446 125447446 C T SNP EI24 ENST00000278903 human ensembl 70_37 +1 known missense c.296 p.S99L 1.000 NULL NULL - no_errors EI24 HGNC ENSG00000149547 27 25 48.08 95 0 0.00 EI24 9538 genome.wustl.edu 37 11 125453661 125453661 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 125453661 125453661 G A SNP EI24 ENST00000526081 human ensembl 70_37 +1 putative silent c.201 p.G67 0.988 NULL NULL - no_errors EI24 HGNC ENSG00000149547 7 3 30.00 17 0 0.00 EIF1 10209 genome.wustl.edu 37 17 39845183 39845183 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39845183 39845183 G A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors EIF1 HGNC ENSG00000173812 11 5 31.25 20 0 0.00 EIF1 10209 genome.wustl.edu 37 17 39845441 39845441 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39845441 39845441 G T SNP EIF1 ENST00000469308 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors EIF1 HGNC ENSG00000173812 8 8 50.00 20 0 0.00 EIF1 10209 genome.wustl.edu 37 17 39847105 39847105 + RNA SNP T T A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847105 39847105 T A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 38 25 39.68 82 0 0.00 EIF1 10209 genome.wustl.edu 37 17 39847106 39847106 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847106 39847106 G A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 38 25 39.68 82 0 0.00 EIF1 10209 genome.wustl.edu 37 17 39847266 39847266 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847266 39847266 G T SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 10 9 47.37 40 0 0.00 EIF1AX 1964 genome.wustl.edu 37 X 20156734 20156734 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd X 20156734 20156734 C T SNP EIF1AX ENST00000379607 human ensembl 70_37 -1 known missense c.23 p.G8E 1.000 superfamily_NA-bd_OB-fold-like pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000173674 59 23 28.05 105 1 0.94 EIF2A 83939 genome.wustl.edu 37 3 150293454 150293454 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 150293454 150293454 C T SNP EIF2A ENST00000460851 human ensembl 70_37 +1 known nonsense c.1402 p.Q468* 1.000 pirsf_TIF2A pfam_TIF2A_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 26 5 16.13 33 0 0.00 EIF2AK1 27102 genome.wustl.edu 37 7 6066550 6066550 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 6066550 6066550 G A SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known nonsense c.1573 p.Q525* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000086232 16 11 40.74 19 0 0.00 EIF2AK1 27102 genome.wustl.edu 37 7 6068307 6068307 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 6068307 6068307 C G SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known missense c.1469 p.R490T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000086232 49 13 20.97 50 0 0.00 EIF2AK1 27102 genome.wustl.edu 37 7 6068648 6068648 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6068648 6068648 G A SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known missense c.1348 p.L450F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000086232 14 20 58.82 42 0 0.00 EIF2AK1 27102 genome.wustl.edu 37 7 6084230 6084230 + Silent SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 6084230 6084230 G T SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known silent c.693 p.T231 0.135 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000086232 34 4 10.53 42 0 0.00 EIF2AK1 27102 genome.wustl.edu 37 7 6094176 6094176 + Splice_Site SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 6094176 6094176 C T SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known splice_site c.277+1 e2+1 1.000 - - - no_errors EIF2AK1 HGNC ENSG00000086232 40 14 25.93 64 0 0.00 EIF2AK2 5610 genome.wustl.edu 37 2 37334416 37334416 + Nonstop_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 37334416 37334416 C G SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known nonstop c.1656 p.*552Y 0.634 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 52 38 42.22 101 0 0.00 EIF2AK2 5610 genome.wustl.edu 37 2 37365460 37365460 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 37365460 37365460 C G SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known missense c.640 p.E214Q 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 6 8 57.14 25 0 0.00 EIF2AK2 5610 genome.wustl.edu 37 2 37365709 37365709 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 37365709 37365709 G A SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known missense c.536 p.S179F 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 31 11 26.19 45 0 0.00 EIF2AK3 9451 genome.wustl.edu 37 2 88857388 88857388 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 88857388 88857388 C G SNP EIF2AK3 ENST00000303236 human ensembl 70_37 -1 known missense c.3217 p.E1073Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 15 8 34.78 36 0 0.00 EIF2AK3 9451 genome.wustl.edu 37 2 88861854 88861854 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88861854 88861854 G C SNP EIF2AK3 ENST00000303236 human ensembl 70_37 -1 known missense c.3040 p.L1014V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 20 6 23.08 35 0 0.00 EIF2B1 1967 genome.wustl.edu 37 12 124111692 124111692 + Silent SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 124111692 124111692 A T SNP EIF2B1 ENST00000424014 human ensembl 70_37 -1 known silent c.381 p.T127 0.980 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 51 17 25.00 55 0 0.00 EIF2B2 8892 genome.wustl.edu 37 14 75469825 75469825 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 75469825 75469825 G C SNP EIF2B2 ENST00000266126 human ensembl 70_37 +1 known missense c.132 p.Q44H 0.997 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 20 14 41.18 40 0 0.00 EIF2B2 8892 genome.wustl.edu 37 14 75471472 75471472 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 75471472 75471472 C G SNP EIF2B2 ENST00000266126 human ensembl 70_37 +1 known missense c.466 p.L156V 0.989 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 15 5 25.00 17 0 0.00 EIF2B3 8891 genome.wustl.edu 37 1 45347294 45347294 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 45347294 45347294 C T SNP EIF2B3 ENST00000360403 human ensembl 70_37 -1 known silent c.774 p.L258 0.180 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 12 13 52.00 18 0 0.00 EIF2B3 8891 genome.wustl.edu 37 1 45363062 45363062 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 45363062 45363062 C T SNP EIF2B3 ENST00000360403 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 37 24 39.34 43 0 0.00 EIF2B3 8891 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 70_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 41 5 10.87 44 0 0.00 EIF2B3 8891 genome.wustl.edu 37 1 45424469 45424469 + RNA SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 45424469 45424469 C T SNP EIF2B3 ENST00000487532 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF2B3 HGNC ENSG00000070785 42 17 28.81 22 0 0.00 EIF2B4 8890 genome.wustl.edu 37 2 27590059 27590059 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 27590059 27590059 C G SNP EIF2B4 ENST00000347454 human ensembl 70_37 -1 known missense c.895 p.E299Q 0.888 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 53 20 27.40 80 0 0.00 EIF2B4 8890 genome.wustl.edu 37 2 27592363 27592363 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 27592363 27592363 C G SNP EIF2B4 ENST00000347454 human ensembl 70_37 -1 known missense c.129 p.K43N 1.000 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 177 27 13.17 171 0 0.00 EIF2B5 8893 genome.wustl.edu 37 3 183858264 183858264 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183858264 183858264 C G SNP EIF2B5 ENST00000273783 human ensembl 70_37 +1 known missense c.902 p.S301C 1.000 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 271 69 20.23 414 0 0.00 AGO1 26523 genome.wustl.edu 37 1 36372633 36372633 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 36372633 36372633 G A SNP EIF2C1 ENST00000373204 human ensembl 70_37 +1 known missense c.1495 p.V499M 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 72 38 34.23 76 0 0.00 AGO2 27161 genome.wustl.edu 37 8 141542680 141542680 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 141542680 141542680 C T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known nonsense c.2306 p.W769* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 22 17 43.59 53 0 0.00 AGO2 27161 genome.wustl.edu 37 8 141559340 141559340 + Silent SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 141559340 141559340 G T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known silent c.1461 p.G487 0.995 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 23 4 14.81 27 0 0.00 AGO2 27161 genome.wustl.edu 37 8 141566014 141566014 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141566014 141566014 G T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known missense c.1250 p.S417Y 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 38 14 26.92 44 0 0.00 AGO2 27161 genome.wustl.edu 37 8 141572715 141572715 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141572715 141572715 G A SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known silent c.355 p.L119 0.303 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 37 12 24.49 36 0 0.00 AGO3 192669 genome.wustl.edu 37 1 36470034 36470034 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36470034 36470034 C G SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known missense c.751 p.L251V 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC ENSG00000126070 30 16 34.78 25 0 0.00 AGO3 192669 genome.wustl.edu 37 1 36475026 36475027 + RNA INS - - A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 36475026 36475027 - A INS EIF2C3 ENST00000479395 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.011 - - - no_errors EIF2C3 HGNC ENSG00000126070 4 5 55.56 9 0 0.00 AGO3 192669 genome.wustl.edu 37 1 36479634 36479634 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36479634 36479634 G C SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known missense c.1391 p.R464T 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC ENSG00000126070 32 10 23.81 33 0 0.00 AGO3 192669 genome.wustl.edu 37 1 36499858 36499858 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36499858 36499858 C T SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known nonsense c.1675 p.Q559* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC ENSG00000126070 39 6 13.33 37 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36282575 36282575 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 36282575 36282575 C A SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.112 p.Q38K 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 62 22 26.19 72 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36297122 36297122 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 36297122 36297122 C T SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.943 p.L315F 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 25 13 34.21 52 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36297445 36297445 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 36297445 36297445 C T SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known silent c.1029 p.I343 0.826 pfam_PAZ,superfamily_PAZ,smart_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 24 10 29.41 35 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36297506 36297506 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 36297506 36297506 G A SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.1090 p.D364N 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 82 29 26.13 108 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36307229 36307229 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 36307229 36307229 G C SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.2053 p.E685Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 33 4 10.81 46 0 0.00 AGO4 192670 genome.wustl.edu 37 1 36320284 36320284 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 36320284 36320284 T G SNP EIF2C4 ENST00000496257 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF2C4 HGNC ENSG00000134698 41 5 10.87 85 0 0.00 EIF2D 1939 genome.wustl.edu 37 1 206769124 206769124 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 206769124 206769124 C T SNP EIF2D ENST00000271764 human ensembl 70_37 -1 known silent c.1452 p.K484 1.000 superfamily_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 45 26 36.62 63 0 0.00 EIF2S1 1965 genome.wustl.edu 37 14 67847454 67847454 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 67847454 67847454 G C SNP EIF2S1 ENST00000256383 human ensembl 70_37 +1 known missense c.552 p.L184F 1.000 pfam_TIF_2_asu pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 62 38 38.00 122 0 0.00 EIF2S1 1965 genome.wustl.edu 37 14 67850056 67850056 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 14 67850056 67850056 G A SNP EIF2S1 ENST00000256383 human ensembl 70_37 +1 known missense c.847 p.E283K 1.000 superfamily_TIF2_asu_C pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 49 16 24.62 47 0 0.00 EIF2S1 1965 genome.wustl.edu 37 14 67850119 67850119 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 67850119 67850119 G C SNP EIF2S1 ENST00000256383 human ensembl 70_37 +1 known missense c.910 p.D304H 1.000 NULL pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 25 7 21.88 53 0 0.00 EIF2S2 8894 genome.wustl.edu 37 20 32686316 32686316 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 32686316 32686316 C G SNP EIF2S2 ENST00000374980 human ensembl 70_37 -1 known missense c.421 p.E141Q 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 32 21 39.62 60 0 0.00 EIF2S2 8894 genome.wustl.edu 37 20 32686325 32686325 + Nonsense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 32686325 32686325 C A SNP EIF2S2 ENST00000374980 human ensembl 70_37 -1 known nonsense c.412 p.E138* 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 32 20 38.46 58 0 0.00 EIF2S3 1968 genome.wustl.edu 37 X 24094872 24094872 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 24094872 24094872 G A SNP EIF2S3 ENST00000253039 human ensembl 70_37 +1 known silent c.1389 p.V463 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 19 11 36.67 53 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120796821 120796821 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 120796821 120796821 C T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known silent c.3729 p.R1243 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 19 3 13.64 44 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120797792 120797792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 120797792 120797792 C G SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.3686 p.R1229T 0.996 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 56 48 46.15 78 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120810137 120810137 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 120810137 120810137 C T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.2369 p.R790Q 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 54 24 30.77 114 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120818980 120818980 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 120818980 120818980 C T SNP EIF3A ENST00000462527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3A HGNC ENSG00000107581 6 9 60.00 32 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120819416 120819416 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 120819416 120819416 C G SNP EIF3A ENST00000462527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3A HGNC ENSG00000107581 45 12 21.05 58 0 0.00 EIF3A 8661 genome.wustl.edu 37 10 120829034 120829034 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 120829034 120829034 G T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.874 p.H292N 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 77 25 24.51 112 0 0.00 EIF3B 8662 genome.wustl.edu 37 7 2406170 2406170 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 2406170 2406170 G A SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known missense c.1300 p.D434N 1.000 pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 20 22 52.38 52 0 0.00 EIF3B 8662 genome.wustl.edu 37 7 2412417 2412417 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 2412417 2412417 G A SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known silent c.1797 p.K599 0.999 pfam_TIF2A_beta_prop-like,pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 46 6 11.54 69 0 0.00 EIF3B 8662 genome.wustl.edu 37 7 2419073 2419073 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 2419073 2419073 G T SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known nonsense c.2386 p.E796* 1.000 pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 28 21 42.86 43 0 0.00 EIF3C 8663 genome.wustl.edu 37 16 28734509 28734509 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 28734509 28734509 G C SNP EIF3C ENST00000331666 human ensembl 70_37 +1 known missense c.801 p.K267N 1.000 pfam_eIF3c_N pfam_eIF3c_N,pfam_PCI_dom,smart_PCI_dom - no_errors EIF3C HGNC ENSG00000184110 37 7 15.91 32 0 0.00 EIF3D 8664 genome.wustl.edu 37 22 36907574 36907574 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 36907574 36907574 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.1609 p.E537Q 0.368 pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 30 9 23.08 41 0 0.00 EIF3D 8664 genome.wustl.edu 37 22 36912933 36912933 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 36912933 36912933 G A SNP EIF3D ENST00000462794 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors EIF3D HGNC ENSG00000100353 11 4 26.67 23 0 0.00 EIF3D 8664 genome.wustl.edu 37 22 36913354 36913354 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36913354 36913354 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.984 p.L328F 1.000 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 30 17 35.42 63 0 0.00 EIF3D 8664 genome.wustl.edu 37 22 36915544 36915544 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 36915544 36915544 C T SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.619 p.D207N 0.289 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 29 14 32.56 32 0 0.00 EIF3D 8664 genome.wustl.edu 37 22 36915583 36915583 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 22 36915583 36915583 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.580 p.E194Q 0.366 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 155 46 22.89 171 0 0.00 EIF3E 3646 genome.wustl.edu 37 8 109226922 109226922 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 109226922 109226922 C T SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known silent c.975 p.L325 1.000 pfam_PCI_dom,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000104408 38 12 24.00 54 0 0.00 EIF3E 3646 genome.wustl.edu 37 8 109252288 109252288 + Missense_Mutation SNP T T A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 109252288 109252288 T A SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.222 p.R74S 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000104408 131 19 12.67 134 0 0.00 EIF3E 3646 genome.wustl.edu 37 8 109260902 109260902 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 109260902 109260902 G C SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.30 p.I10M 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000104408 29 29 50.00 24 0 0.00 EIF3E 3646 genome.wustl.edu 37 8 109260902 109260902 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 109260902 109260902 G C SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.30 p.I10M 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000104408 45 36 44.44 45 0 0.00 EIF3G 8666 genome.wustl.edu 37 19 10230348 10230348 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 10230348 10230348 C T SNP EIF3G ENST00000253108 human ensembl 70_37 -1 known missense c.49 p.E17K 1.000 pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 74 43 36.75 98 0 0.00 EIF3G 8666 genome.wustl.edu 37 19 10230374 10230374 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 10230374 10230374 G A SNP EIF3G ENST00000253108 human ensembl 70_37 -1 known missense c.23 p.S8L 1.000 pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 76 38 33.33 127 0 0.00 EIF3H 8667 genome.wustl.edu 37 8 117668117 117668117 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 117668117 117668117 C T SNP EIF3H ENST00000521861 human ensembl 70_37 -1 known missense c.685 p.E229K 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC ENSG00000147677 38 8 17.39 39 0 0.00 EIF3H 8667 genome.wustl.edu 37 8 117767936 117767936 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 117767936 117767936 G A SNP EIF3H ENST00000521861 human ensembl 70_37 -1 known missense c.101 p.S34L 1.000 pfam_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC ENSG00000147677 30 18 37.50 28 0 0.00 EIF3I 8668 genome.wustl.edu 37 1 32692106 32692106 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 32692106 32692106 G A SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.503 p.G168E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 14 19 55.88 31 0 0.00 EIF3I 8668 genome.wustl.edu 37 1 32694789 32694789 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32694789 32694789 G T SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.783 p.R261S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 33 9 21.43 31 0 0.00 EIF3I 8668 genome.wustl.edu 37 1 32696563 32696563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 32696563 32696563 G C SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.839 p.R280T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 146 32 17.98 173 0 0.00 EIF3K 27335 genome.wustl.edu 37 19 39114771 39114771 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39114771 39114771 G T SNP EIF3K ENST00000248342 human ensembl 70_37 +1 known silent c.213 p.L71 1.000 pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 96 13 11.93 58 0 0.00 EIF3L 51386 genome.wustl.edu 37 22 38259338 38259338 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38259338 38259338 G A SNP EIF3L ENST00000425539 human ensembl 70_37 +1 known missense c.694 p.E232K 1.000 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC ENSG00000100129 38 18 31.58 44 0 0.00 EIF3M 10480 genome.wustl.edu 37 11 32610234 32610234 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 32610234 32610234 G A SNP EIF3M ENST00000531120 human ensembl 70_37 +1 known silent c.270 p.L90 1.000 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 46 18 28.12 47 0 0.00 EIF4A1 1973 genome.wustl.edu 37 17 7478464 7478464 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7478464 7478464 C A SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known missense c.233 p.S78Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 33 22 40.00 41 0 0.00 EIF4A1 1973 genome.wustl.edu 37 17 7479841 7479841 + Splice_Site SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 7479841 7479841 G T SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known splice_site c.346-1 e5-1 1.000 - - - no_errors EIF4A1 HGNC ENSG00000161960 24 6 20.00 14 0 0.00 EIF4A1 1973 genome.wustl.edu 37 17 7480675 7480675 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 7480675 7480675 C T SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known missense c.638 p.S213L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 40 9 18.37 80 0 0.00 EIF4A2 1974 genome.wustl.edu 37 3 186502437 186502437 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186502437 186502437 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known missense c.163 p.E55Q 1.000 smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 94 15 13.76 51 0 0.00 EIF4A2 1974 genome.wustl.edu 37 3 186502834 186502834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 186502834 186502834 G T SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known nonsense c.295 p.E99* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 16 5 23.81 48 0 0.00 EIF4A2 1974 genome.wustl.edu 37 3 186503748 186503748 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186503748 186503748 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known missense c.428 p.R143P 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 35 5 12.20 24 0 0.00 EIF4A2 1974 genome.wustl.edu 37 3 186504951 186504951 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 186504951 186504951 G A SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known silent c.810 p.E270 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 21 16 43.24 37 0 0.00 EIF4A2 1974 genome.wustl.edu 37 3 186505011 186505011 + Silent SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 186505011 186505011 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known silent c.870 p.L290 0.948 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 35 12 25.53 22 0 0.00 EIF4A3 9775 genome.wustl.edu 37 17 78115141 78115141 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 78115141 78115141 C G SNP EIF4A3 ENST00000269349 human ensembl 70_37 -1 known missense c.349 p.E117Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A3 HGNC ENSG00000141543 19 10 34.48 23 0 0.00 EIF4B 1975 genome.wustl.edu 37 12 53410310 53410310 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53410310 53410310 G T SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known nonsense c.67 p.E23* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 37 35 48.61 65 0 0.00 EIF4B 1975 genome.wustl.edu 37 12 53421858 53421858 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 53421858 53421858 G A SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known missense c.865 p.D289N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 28 16 36.36 30 0 0.00 EIF4B 1975 genome.wustl.edu 37 12 53421858 53421858 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 53421858 53421858 G A SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known missense c.865 p.D289N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 70 28 28.57 110 0 0.00 EIF4B 1975 genome.wustl.edu 37 12 53431271 53431271 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 53431271 53431271 C G SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known missense c.1385 p.S462C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 24 6 20.00 23 0 0.00 EIF4E3 317649 genome.wustl.edu 37 3 71748779 71748779 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 71748779 71748779 C G SNP EIF4E3 ENST00000425534 human ensembl 70_37 -1 known missense c.330 p.E110D 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E3 HGNC ENSG00000163412 34 19 35.85 67 0 0.00 EIF4E3 317649 genome.wustl.edu 37 3 71777666 71777666 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 71777666 71777666 G C SNP EIF4E3 ENST00000468147 human ensembl 70_37 -1 known rna NULL NULL 0.411 - - - no_errors EIF4E3 HGNC ENSG00000163412 16 14 46.67 22 0 0.00 EIF4ENIF1 56478 genome.wustl.edu 37 22 31837859 31837859 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 31837859 31837859 G C SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.2452 p.P818A 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 78 34 30.36 183 0 0.00 EIF4ENIF1 56478 genome.wustl.edu 37 22 31859712 31859712 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31859712 31859712 C G SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.540 p.L180F 0.998 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 15 41 73.21 75 0 0.00 EIF4ENIF1 56478 genome.wustl.edu 37 22 31859712 31859712 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31859712 31859712 C G SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.540 p.L180F 0.998 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 15 9 37.50 39 0 0.00 EIF4G1 1981 genome.wustl.edu 37 3 184038632 184038632 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 184038632 184038632 C T SNP EIF4G1 ENST00000442406 human ensembl 70_37 +1 known missense c.140 p.A47V 1.000 NULL NULL - no_errors EIF4G1 HGNC ENSG00000114867 40 10 20.00 26 0 0.00 EIF4G1 1981 genome.wustl.edu 37 3 184040704 184040704 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 184040704 184040704 G A SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.1912 p.E638K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 235 60 20.34 313 0 0.00 EIF4G1 1981 genome.wustl.edu 37 3 184040742 184040742 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 184040742 184040742 G C SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.1950 p.K650N 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 234 53 18.47 316 0 0.00 EIF4G1 1981 genome.wustl.edu 37 3 184043121 184043121 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184043121 184043121 G A SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.2942 p.R981H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 15 8 34.78 37 0 0.00 EIF4G1 1981 genome.wustl.edu 37 3 184045425 184045425 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184045425 184045425 C G SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.3734 p.S1245C 0.981 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 69 19 21.59 39 0 0.00 EIF4G2 1982 genome.wustl.edu 37 11 10830402 10830402 + RNA SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 10830402 10830402 C A SNP EIF4G2 ENST00000525972 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF4G2 HGNC ENSG00000110321 50 17 25.37 65 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21139650 21139650 + Splice_Site SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 21139650 21139650 C G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known splice_site c.4447+1 e29+1 1.000 - - - no_errors EIF4G3 HGNC ENSG00000075151 37 17 31.48 31 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21175937 21175937 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 21175937 21175937 C A SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.3709 p.D1237Y 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 24 8 25.00 41 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21175959 21175959 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 21175959 21175959 C G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.3687 p.E1229D 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 15 12 44.44 30 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21268001 21268001 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 21268001 21268001 C T SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.1496 p.R499K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 31 25 44.64 33 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21296060 21296060 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 21296060 21296060 A G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known silent c.474 p.G158 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 12 18 60.00 62 0 0.00 EIF4G3 8672 genome.wustl.edu 37 1 21391064 21391064 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 21391064 21391064 G A SNP EIF4G3 ENST00000463775 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF4G3 HGNC ENSG00000075151 38 16 29.63 46 0 0.00 EIF4H 7458 genome.wustl.edu 37 7 73609171 73609171 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 73609171 73609171 C T SNP EIF4H ENST00000265753 human ensembl 70_37 +1 known silent c.570 p.L190 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 54 9 14.06 68 0 0.00 EIF5 1983 genome.wustl.edu 37 14 103806896 103806896 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 103806896 103806896 G A SNP EIF5 ENST00000216554 human ensembl 70_37 +1 known missense c.1204 p.E402K 1.000 NULL pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 55 34 37.78 77 0 0.00 EIF5A 1984 genome.wustl.edu 37 17 7213022 7213022 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7213022 7213022 C T SNP EIF5A ENST00000336452 human ensembl 70_37 +1 known missense c.158 p.S53L 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 101 33 24.63 105 0 0.00 EIF5AL1 143244 genome.wustl.edu 37 10 81272687 81272687 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 81272687 81272687 C G SNP EIF5AL1 ENST00000520547 human ensembl 70_37 +1 known missense c.282 p.I94M 0.996 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 62 38 38.00 76 0 0.00 EIF5AL1 143244 genome.wustl.edu 37 10 81272814 81272814 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81272814 81272814 G C SNP EIF5AL1 ENST00000520547 human ensembl 70_37 +1 known missense c.409 p.V137L 1.000 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 85 10 10.53 106 0 0.00 EIF5B 9669 genome.wustl.edu 37 2 100011189 100011189 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 100011189 100011189 G A SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known missense c.3097 p.V1033I 1.000 pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 49 21 30.00 120 0 0.00 EIF5B 9669 genome.wustl.edu 37 2 100013320 100013320 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 100013320 100013320 C T SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known nonsense c.3352 p.Q1118* 0.994 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 17 16 48.48 34 0 0.00 EIF5B 9669 genome.wustl.edu 37 2 99992929 99992929 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 99992929 99992929 G A SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known missense c.1672 p.E558K 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 30 7 18.92 28 0 0.00 EIF5B 9669 genome.wustl.edu 37 2 99999378 99999378 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 99999378 99999378 C T SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known silent c.2265 p.L755 0.954 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 35 14 28.57 27 0 0.00 EIF6 3692 genome.wustl.edu 37 20 33867868 33867868 + Missense_Mutation SNP T T A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 33867868 33867868 T A SNP EIF6 ENST00000415116 human ensembl 70_37 -1 known missense c.542 p.Q181L 1.000 NULL NULL - no_errors EIF6 HGNC ENSG00000242372 36 7 16.28 29 0 0.00 EIF6 3692 genome.wustl.edu 37 20 33867892 33867892 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 33867892 33867892 G C SNP EIF6 ENST00000415116 human ensembl 70_37 -1 known nonsense c.518 p.S173* 1.000 NULL NULL - no_errors EIF6 HGNC ENSG00000242372 40 16 28.57 48 0 0.00 ELANE 1991 genome.wustl.edu 37 19 855661 855661 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 855661 855661 G C SNP ELANE ENST00000263621 human ensembl 70_37 +1 known missense c.464 p.G155A 1.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 24 6 20.00 29 0 0.00 ELANE 1991 genome.wustl.edu 37 19 855775 855775 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 855775 855775 G A SNP ELANE ENST00000263621 human ensembl 70_37 +1 known missense c.578 p.R193Q 0.205 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 27 9 25.00 31 0 0.00 ELAVL1 1994 genome.wustl.edu 37 19 8028545 8028545 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8028545 8028545 C G SNP ELAVL1 ENST00000351593 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 37 17 31.48 43 0 0.00 ELAVL1 1994 genome.wustl.edu 37 19 8056669 8056669 + Nonsense_Mutation SNP C C A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 19 8056669 8056669 C A SNP ELAVL1 ENST00000351593 human ensembl 70_37 -1 known nonsense c.112 p.E38* 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 27 3 10.00 58 0 0.00 ELAVL2 1993 genome.wustl.edu 37 9 23701536 23701536 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 23701536 23701536 C T SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known missense c.638 p.G213D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 19 10 34.48 63 0 0.00 ELAVL2 1993 genome.wustl.edu 37 9 23701541 23701541 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 23701541 23701541 G C SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known missense c.633 p.I211M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 28 42 60.00 48 0 0.00 ELAVL2 1993 genome.wustl.edu 37 9 23762091 23762091 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 23762091 23762091 G A SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known nonsense c.226 p.Q76* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 101 12 10.62 63 0 0.00 ELAVL2 1993 genome.wustl.edu 37 9 23762104 23762104 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 23762104 23762104 G A SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known silent c.213 p.V71 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 53 51 49.04 67 0 0.00 ELAVL3 1995 genome.wustl.edu 37 19 11565683 11565683 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 11565683 11565683 C T SNP ELAVL3 ENST00000359227 human ensembl 70_37 -1 known silent c.762 p.S254 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 261 38 12.58 336 0 0.00 ELAVL4 1996 genome.wustl.edu 37 1 50659540 50659540 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 50659540 50659540 C T SNP ELAVL4 ENST00000371821 human ensembl 70_37 +1 known missense c.473 p.S158L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 68 25 26.88 89 0 0.00 ELAVL4 1996 genome.wustl.edu 37 1 50661260 50661260 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 50661260 50661260 G A SNP ELAVL4 ENST00000371821 human ensembl 70_37 +1 known missense c.551 p.R184H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 50 14 21.88 69 0 0.00 ELF1 1997 genome.wustl.edu 37 13 41508024 41508024 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 41508024 41508024 A C SNP ELF1 ENST00000239882 human ensembl 70_37 -1 known missense c.1397 p.F466C 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF1 HGNC ENSG00000120690 57 9 13.64 105 0 0.00 ELF2 1998 genome.wustl.edu 37 4 139980712 139980712 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 139980712 139980712 G A SNP ELF2 ENST00000379550 human ensembl 70_37 -1 known nonsense c.1207 p.Q403* 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF2 HGNC ENSG00000109381 122 18 12.86 106 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981105 201981105 + Nonsense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201981105 201981105 G T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known nonsense c.184 p.E62* 0.564 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 20 5 20.00 21 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981119 201981119 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201981119 201981119 C G SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.198 p.F66L 0.268 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 23 15 39.47 23 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981124 201981124 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201981124 201981124 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.203 p.S68L 0.991 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 5 22 81.48 15 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981255 201981255 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201981255 201981255 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known silent c.334 p.L112 0.009 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 28 26 48.15 24 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981365 201981365 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 201981365 201981365 C T SNP ELF3 ENST00000490203 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ELF3 HGNC ENSG00000163435 5 7 58.33 19 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201981549 201981549 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201981549 201981549 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.463 p.D155N 0.053 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 28 8 22.22 41 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201982373 201982373 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201982373 201982373 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.752 p.R251Q 0.996 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 59 15 20.27 83 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201982911 201982911 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201982911 201982911 G A SNP ELF3 ENST00000475698 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ELF3 HGNC ENSG00000163435 27 40 59.70 77 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201983060 201983060 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201983060 201983060 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known silent c.909 p.F303 1.000 pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 27 17 38.64 25 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201984418 201984418 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201984418 201984418 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known nonsense c.1083 p.W361* 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 41 17 29.31 83 0 0.00 ELF3 1999 genome.wustl.edu 37 1 201984422 201984422 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 201984422 201984422 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.1087 p.E363K 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ENSG00000163435 29 16 35.56 43 0 0.00 ELF4 2000 genome.wustl.edu 37 X 129200915 129200915 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 129200915 129200915 C T SNP ELF4 ENST00000308167 human ensembl 70_37 -1 known silent c.1773 p.P591 0.652 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF4 HGNC ENSG00000102034 30 16 34.78 52 0 0.00 ELF5 2001 genome.wustl.edu 37 11 34533107 34533107 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 34533107 34533107 G A SNP ELF5 ENST00000312319 human ensembl 70_37 -1 known silent c.10 p.L4 0.003 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF5 HGNC ENSG00000135374 15 3 16.67 30 0 0.00 ELFN1 392617 genome.wustl.edu 37 7 1784472 1784472 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 1784472 1784472 C T SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known silent c.240 p.L80 0.937 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 51 15 22.73 39 0 0.00 ELFN1 392617 genome.wustl.edu 37 7 1785298 1785298 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 1785298 1785298 G A SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known missense c.1066 p.V356M 0.977 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 22 15 40.54 57 0 0.00 ELFN1 392617 genome.wustl.edu 37 7 1785391 1785391 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 1785391 1785391 G A SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known missense c.1159 p.G387R 0.002 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 42 22 34.38 56 0 0.00 ELFN2 114794 genome.wustl.edu 37 22 37769910 37769910 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37769910 37769910 G C SNP ELFN2 ENST00000349653 human ensembl 70_37 -1 known silent c.1665 p.L555 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 196 32 14.04 88 0 0.00 ELFN2 114794 genome.wustl.edu 37 22 37771487 37771487 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37771487 37771487 C T SNP ELFN2 ENST00000349653 human ensembl 70_37 -1 known missense c.88 p.D30N 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 90 19 17.43 47 0 0.00 ELK1 2002 genome.wustl.edu 37 X 47496289 47496289 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 47496289 47496289 G A SNP ELK1 ENST00000247161 human ensembl 70_37 -1 known missense c.1226 p.S409F 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 40 23 36.51 58 0 0.00 ELK1 2002 genome.wustl.edu 37 X 47498360 47498360 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 47498360 47498360 G T SNP ELK1 ENST00000247161 human ensembl 70_37 -1 known missense c.588 p.S196R 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 104 24 18.60 101 0 0.00 ELK1 2002 genome.wustl.edu 37 X 47500685 47500685 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 47500685 47500685 C T SNP ELK1 ENST00000247161 human ensembl 70_37 -1 known silent c.156 p.K52 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 51 20 28.17 51 0 0.00 ELK3 2004 genome.wustl.edu 37 12 96641178 96641178 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 96641178 96641178 C G SNP ELK3 ENST00000228741 human ensembl 70_37 +1 known missense c.668 p.S223C 1.000 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELK3 HGNC ENSG00000111145 101 68 40.24 180 0 0.00 ELK4 2005 genome.wustl.edu 37 1 205588167 205588167 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205588167 205588167 G C SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known missense c.1115 p.S372C 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ENSG00000158711 20 20 50.00 16 0 0.00 ELK4 2005 genome.wustl.edu 37 1 205589548 205589548 + Nonsense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 205589548 205589548 G C SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known nonsense c.626 p.S209* 0.014 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ENSG00000158711 95 15 13.64 132 0 0.00 ELK4 2005 genome.wustl.edu 37 1 205592829 205592829 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 205592829 205592829 C T SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known missense c.182 p.R61Q 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ENSG00000158711 27 19 41.30 50 0 0.00 ELL 8178 genome.wustl.edu 37 19 18557273 18557273 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18557273 18557273 G A SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.1550 p.S517F 0.967 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 27 4 12.90 31 0 0.00 ELL 8178 genome.wustl.edu 37 19 18557290 18557290 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 18557290 18557290 C T SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.1533 p.L511 0.884 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 19 5 20.83 34 0 0.00 ELL 8178 genome.wustl.edu 37 19 18572462 18572462 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 18572462 18572462 C G SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.670 p.E224Q 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 55 8 12.50 104 0 0.00 ELL 8178 genome.wustl.edu 37 19 18572600 18572600 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 18572600 18572600 G A SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.532 p.R178W 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 88 15 14.56 99 0 0.00 ELL 8178 genome.wustl.edu 37 19 18572604 18572604 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18572604 18572604 C T SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.528 p.R176 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 52 11 17.46 50 0 0.00 ELL 8178 genome.wustl.edu 37 19 18632761 18632761 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18632761 18632761 C G SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 35 22 38.60 63 0 0.00 ELL2 22936 genome.wustl.edu 37 5 95234166 95234166 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 95234166 95234166 G C SNP ELL2 ENST00000237853 human ensembl 70_37 -1 known missense c.1303 p.L435V 0.998 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 67 56 45.53 103 1 0.96 ELL2 22936 genome.wustl.edu 37 5 95255153 95255153 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 95255153 95255153 C G SNP ELL2 ENST00000237853 human ensembl 70_37 -1 known missense c.292 p.D98H 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 99 36 26.67 171 0 0.00 ELL3 80237 genome.wustl.edu 37 15 44066430 44066430 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 44066430 44066430 C T SNP ELL3 ENST00000319359 human ensembl 70_37 -1 known missense c.988 p.E330K 0.921 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 38 25 39.68 69 0 0.00 ELL3 80237 genome.wustl.edu 37 15 44068050 44068050 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 44068050 44068050 G A SNP ELL3 ENST00000319359 human ensembl 70_37 -1 known missense c.353 p.S118F 0.924 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 80 23 22.33 113 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 36910022 36910022 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 36910022 36910022 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1881 p.E627D 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 42 26 37.68 40 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 36910022 36910022 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 36910022 36910022 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1881 p.E627D 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 53 43 44.79 83 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 36917698 36917698 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36917698 36917698 G A SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1739 p.S580L 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 16 8 33.33 17 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 37136310 37136310 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 37136310 37136310 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1214 p.R405P 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 62 9 12.68 30 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 37262231 37262231 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 37262231 37262231 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.769 p.E257Q 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 14 9 39.13 38 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 37298896 37298896 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 37298896 37298896 C T SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known silent c.303 p.L101 1.000 superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 36 7 16.28 66 0 0.00 ELMO1 9844 genome.wustl.edu 37 7 37311454 37311454 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 37311454 37311454 G A SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known nonsense c.226 p.R76* 0.999 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 15 11 42.31 23 0 0.00 ELMO2 63916 genome.wustl.edu 37 20 45003955 45003955 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 45003955 45003955 C G SNP ELMO2 ENST00000439931 human ensembl 70_37 -1 known missense c.1021 p.D341H 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 48 21 30.00 46 0 0.00 ELMO2 63916 genome.wustl.edu 37 20 45023085 45023085 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45023085 45023085 C G SNP ELMO2 ENST00000439931 human ensembl 70_37 -1 known missense c.37 p.E13Q 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 38 12 24.00 56 0 0.00 ELMO2 63916 genome.wustl.edu 37 20 45023165 45023165 + RNA SNP C C A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 20 45023165 45023165 C A SNP ELMO2 ENST00000460474 human ensembl 70_37 -1 known rna NULL NULL 0.860 - - - no_errors ELMO2 HGNC ENSG00000062598 36 30 45.45 53 0 0.00 ELMO3 79767 genome.wustl.edu 37 16 67233124 67233124 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 67233124 67233124 C T SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known silent c.54 p.L18 0.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 52 23 30.67 76 0 0.00 ELMO3 79767 genome.wustl.edu 37 16 67233630 67233630 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 67233630 67233630 G A SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known missense c.322 p.D108N 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 18 5 21.74 18 0 0.00 ELMO3 79767 genome.wustl.edu 37 16 67235753 67235753 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67235753 67235753 G C SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 112 26 18.84 143 0 0.00 ELMOD1 55531 genome.wustl.edu 37 11 107463876 107463876 + RNA SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 11 107463876 107463876 G A SNP ELMOD1 ENST00000529675 human ensembl 70_37 +1 putative rna NULL NULL 0.961 - - - no_errors ELMOD1 HGNC ENSG00000110675 18 4 18.18 31 0 0.00 ELMOD2 255520 genome.wustl.edu 37 4 141446613 141446613 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446613 141446613 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.31 p.G11W 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 42 16 27.59 42 0 0.00 ELMOD2 255520 genome.wustl.edu 37 4 141446613 141446613 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446613 141446613 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.31 p.G11W 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 92 15 14.02 138 0 0.00 ELMOD2 255520 genome.wustl.edu 37 4 141446614 141446614 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446614 141446614 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.32 p.G11V 0.999 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 43 16 27.12 40 0 0.00 ELMOD2 255520 genome.wustl.edu 37 4 141446614 141446614 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446614 141446614 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.32 p.G11V 0.999 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 91 15 14.15 139 0 0.00 ELMOD3 84173 genome.wustl.edu 37 2 85598618 85598618 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85598618 85598618 G A SNP ELMOD3 ENST00000315658 human ensembl 70_37 +1 known silent c.540 p.K180 1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 51 15 22.73 48 0 0.00 ELMSAN1 91748 genome.wustl.edu 37 14 74196458 74196458 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74196458 74196458 G C SNP ELMSAN1 ENST00000286523 human ensembl 70_37 -1 known silent c.1980 p.L660 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 17 9 34.62 27 0 0.00 ELMSAN1 91748 genome.wustl.edu 37 14 74196685 74196685 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 74196685 74196685 C G SNP ELMSAN1 ENST00000286523 human ensembl 70_37 -1 known missense c.1753 p.E585Q 0.555 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 29 24 45.28 37 0 0.00 ELMSAN1 91748 genome.wustl.edu 37 14 74206775 74206775 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 74206775 74206775 C T SNP ELMSAN1 ENST00000486739 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ELMSAN1 HGNC ENSG00000156030 38 8 17.39 27 0 0.00 ELMSAN1 91748 genome.wustl.edu 37 14 74206775 74206775 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 74206775 74206775 C T SNP ELMSAN1 ENST00000486739 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ELMSAN1 HGNC ENSG00000156030 73 24 24.74 29 0 0.00 ELN 2006 genome.wustl.edu 37 7 73452044 73452044 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 73452044 73452044 G T SNP ELN ENST00000358929 human ensembl 70_37 +1 known silent c.171 p.G57 0.644 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 20 4 16.67 23 0 0.00 ELN 2006 genome.wustl.edu 37 7 73457475 73457475 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 73457475 73457475 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known missense c.404 p.G135E 0.548 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 7 4 36.36 14 0 0.00 ELN 2006 genome.wustl.edu 37 7 73471043 73471043 + Nonsense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 73471043 73471043 G T SNP ELN ENST00000320399 human ensembl 70_37 +1 known nonsense c.1357 p.G453* 0.935 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 34 4 10.53 55 0 0.00 ELN 2006 genome.wustl.edu 37 7 73471762 73471762 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 73471762 73471762 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known missense c.1408 p.A470T 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 52 16 23.53 66 0 0.00 ELN 2006 genome.wustl.edu 37 7 73483018 73483018 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 73483018 73483018 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known silent c.2367 p.R789 1.000 prints_Tropoelastin prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 27 3 10.00 54 0 0.00 ELOVL1 64834 genome.wustl.edu 37 1 43829599 43829599 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43829599 43829599 G A SNP ELOVL1 ENST00000372458 human ensembl 70_37 -1 known silent c.828 p.V276 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ENSG00000066322 15 11 40.74 20 0 0.00 ELOVL1 64834 genome.wustl.edu 37 1 43829755 43829755 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 43829755 43829755 G T SNP ELOVL1 ENST00000372458 human ensembl 70_37 -1 known missense c.672 p.S224R 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ENSG00000066322 27 4 12.90 34 0 0.00 ELOVL2 54898 genome.wustl.edu 37 6 10995297 10995297 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 10995297 10995297 G C SNP ELOVL2 ENST00000354666 human ensembl 70_37 -1 known missense c.448 p.H150D 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 30 12 28.57 37 0 0.00 ELOVL4 6785 genome.wustl.edu 37 6 80626468 80626468 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 80626468 80626468 G A SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known missense c.802 p.R268W 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 36 10 21.74 65 0 0.00 ELOVL4 6785 genome.wustl.edu 37 6 80631439 80631439 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 80631439 80631439 T C SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known silent c.444 p.R148 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 9 5 35.71 24 0 0.00 ELOVL4 6785 genome.wustl.edu 37 6 80656984 80656984 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 80656984 80656984 C T SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known missense c.13 p.D5N 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 19 5 20.83 54 0 0.00 ELOVL5 60481 genome.wustl.edu 37 6 53156762 53156762 + Splice_Site SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 53156762 53156762 C G SNP ELOVL5 ENST00000541407 human ensembl 70_37 -1 known splice_site c.59-1 e2-1 1.000 - - - no_errors ELOVL5 HGNC ENSG00000012660 74 28 27.45 72 0 0.00 ELOVL5 60481 genome.wustl.edu 37 6 53213754 53213754 + RNA SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 53213754 53213754 C A SNP ELOVL5 ENST00000485336 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors ELOVL5 HGNC ENSG00000012660 34 23 40.35 61 0 0.00 ELOVL6 79071 genome.wustl.edu 37 4 111119453 111119453 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 111119453 111119453 G A SNP ELOVL6 ENST00000394607 human ensembl 70_37 -1 known silent c.39 p.F13 0.939 NULL pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 212 28 11.67 249 0 0.00 ELP2 55250 genome.wustl.edu 37 18 33713236 33713236 + Silent SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 18 33713236 33713236 C A SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known silent c.174 p.T58 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 31 37 54.41 55 0 0.00 ELP2 55250 genome.wustl.edu 37 18 33740957 33740957 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 33740957 33740957 C T SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known missense c.1751 p.S584L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 27 15 35.71 44 0 0.00 ELP2 55250 genome.wustl.edu 37 18 33750155 33750155 + Nonsense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 18 33750155 33750155 C T SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known nonsense c.2206 p.Q736* 0.255 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 76 18 19.15 99 0 0.00 ELP4 26610 genome.wustl.edu 37 11 31669288 31669288 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 31669288 31669288 G A SNP ELP4 ENST00000395934 human ensembl 70_37 +1 known splice_site c.928-1 e8-1 1.000 - - - no_errors ELP4 HGNC ENSG00000109911 6 3 33.33 40 0 0.00 ELTD1 64123 genome.wustl.edu 37 1 79358831 79358831 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 79358831 79358831 C T SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known missense c.1793 p.R598H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 80 22 21.57 94 0 0.00 ELTD1 64123 genome.wustl.edu 37 1 79403949 79403949 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 79403949 79403949 C A SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known nonsense c.412 p.E138* 0.611 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 11 9 45.00 17 0 0.00 ELTD1 64123 genome.wustl.edu 37 1 79412053 79412053 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 79412053 79412053 G A SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known silent c.231 p.N77 0.990 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 21 5 19.23 30 0 0.00 EMC1 23065 genome.wustl.edu 37 1 19545176 19545176 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 19545176 19545176 C A SNP EMC1 ENST00000480380 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EMC1 HGNC ENSG00000127463 24 3 11.11 32 0 0.00 EMC1 23065 genome.wustl.edu 37 1 19549250 19549250 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 19549250 19549250 C T SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.2455 p.A819T 1.000 pfam_DUF1620 pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000127463 39 10 20.41 58 0 0.00 EMC1 23065 genome.wustl.edu 37 1 19550021 19550021 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 19550021 19550021 C A SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.2245 p.D749Y 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000127463 24 9 27.27 27 0 0.00 EMC1 23065 genome.wustl.edu 37 1 19553813 19553813 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 19553813 19553813 G C SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known silent c.2196 p.L732 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000127463 60 26 30.23 61 0 0.00 EMC1 23065 genome.wustl.edu 37 1 19561705 19561705 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 19561705 19561705 C T SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.1351 p.E451K 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000127463 43 27 38.57 56 0 0.00 EMC10 284361 genome.wustl.edu 37 19 50983986 50983986 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50983986 50983986 C T SNP EMC10 ENST00000334976 human ensembl 70_37 +1 known missense c.551 p.S184L 0.830 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 16 9 36.00 8 0 0.00 EMC10 284361 genome.wustl.edu 37 19 50985831 50985831 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 50985831 50985831 C T SNP EMC10 ENST00000598585 human ensembl 70_37 +1 putative missense c.962 p.S321F 0.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 64 12 15.79 45 0 0.00 EMC2 9694 genome.wustl.edu 37 8 109498775 109498775 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 109498775 109498775 C T SNP EMC2 ENST00000220853 human ensembl 70_37 +1 known missense c.842 p.S281F 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC ENSG00000104412 9 9 50.00 31 0 0.00 EMC3 55831 genome.wustl.edu 37 3 10011415 10011415 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 10011415 10011415 G A SNP EMC3 ENST00000245046 human ensembl 70_37 -1 known silent c.645 p.N215 1.000 pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 11 7 38.89 17 0 0.00 EMC3 55831 genome.wustl.edu 37 3 10012302 10012302 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 10012302 10012302 G A SNP EMC3 ENST00000245046 human ensembl 70_37 -1 known missense c.538 p.R180W 0.998 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 63 7 10.00 49 0 0.00 EMC4 51234 genome.wustl.edu 37 15 34517291 34517291 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 34517291 34517291 G C SNP EMC4 ENST00000557879 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EMC4 HGNC ENSG00000128463 27 6 18.18 19 0 0.00 EMC4 51234 genome.wustl.edu 37 15 34521913 34521913 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34521913 34521913 C G SNP EMC4 ENST00000561246 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EMC4 HGNC ENSG00000128463 26 17 39.53 37 0 0.00 EMC4 51234 genome.wustl.edu 37 15 34521944 34521944 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34521944 34521944 C G SNP EMC4 ENST00000561246 human ensembl 70_37 +1 known rna NULL NULL 0.821 - - - no_errors EMC4 HGNC ENSG00000128463 23 16 41.03 33 0 0.00 EMC4 51234 genome.wustl.edu 37 15 34522116 34522116 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34522116 34522116 C T SNP EMC4 ENST00000560000 human ensembl 70_37 +1 putative silent c.249 p.F83 0.000 NULL NULL - no_errors EMC4 HGNC ENSG00000128463 25 16 39.02 36 0 0.00 EMC9 51016 genome.wustl.edu 37 14 24608392 24608392 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 24608392 24608392 C T SNP EMC9 ENST00000216799 human ensembl 70_37 -1 known missense c.454 p.D152N 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC ENSG00000100908 204 28 12.07 165 0 0.00 EMC9 51016 genome.wustl.edu 37 14 24608883 24608883 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 24608883 24608883 G A SNP EMC9 ENST00000558200 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors EMC9 HGNC ENSG00000100908 82 28 25.45 101 0 0.00 EMCN 51705 genome.wustl.edu 37 4 101344472 101344472 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 101344472 101344472 G A SNP EMCN ENST00000296420 human ensembl 70_37 -1 known nonsense c.505 p.Q169* 0.547 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 55 40 42.11 95 0 0.00 EMCN 51705 genome.wustl.edu 37 4 101401162 101401164 + In_Frame_Del DEL AAC AAC - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 101401162 101401164 AAC - DEL EMCN ENST00000296420 human ensembl 70_37 -1 known in_frame_del c.99_97 p.V33in_frame_del 0.000:0.000:0.000 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 90 11 10.89 90 0 0.00 EMD 2010 genome.wustl.edu 37 X 153608140 153608140 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 153608140 153608140 C G SNP EMD ENST00000369842 human ensembl 70_37 +1 known missense c.173 p.S58C 0.046 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENSG00000102119 14 46 76.67 55 0 0.00 EMD 2010 genome.wustl.edu 37 X 153609278 153609278 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153609278 153609278 G A SNP EMD ENST00000369842 human ensembl 70_37 +1 known silent c.486 p.Q162 0.998 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENSG00000102119 57 7 10.94 50 0 0.00 EME1 146956 genome.wustl.edu 37 17 48452978 48452979 + In_Frame_Ins INS - - AGC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 48452978 48452979 - AGC INS EME1 ENST00000393271 human ensembl 70_37 +1 known in_frame_ins c.409_410 p.138in_frame_insQ 0.140:0.176 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 46 13 22.03 48 0 0.00 EME2 197342 genome.wustl.edu 37 16 1823777 1823777 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1823777 1823777 G C SNP EME2 ENST00000307394 human ensembl 70_37 +1 known missense c.319 p.E107Q 0.880 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 4 4 50.00 11 0 0.00 EME2 197342 genome.wustl.edu 37 16 1825175 1825175 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 1825175 1825175 G A SNP EME2 ENST00000307394 human ensembl 70_37 +1 known missense c.611 p.R204Q 0.000 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 29 5 14.71 62 0 0.00 EME2 197342 genome.wustl.edu 37 16 1825361 1825361 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 1825361 1825361 G A SNP EME2 ENST00000307394 human ensembl 70_37 +1 known silent c.747 p.P249 0.000 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 50 10 16.67 56 0 0.00 EMG1 10436 genome.wustl.edu 37 12 7079948 7079948 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 7079948 7079948 C T SNP EMG1 ENST00000261406 human ensembl 70_37 +1 known rna NULL NULL 0.073 - - - no_errors EMG1 HGNC ENSG00000126749 11 4 26.67 21 0 0.00 COL26A1 136227 genome.wustl.edu 37 7 101063332 101063332 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 101063332 101063332 G A SNP EMID2 ENST00000313669 human ensembl 70_37 +1 known missense c.233 p.R78H 0.999 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors EMID2 HGNC ENSG00000160963 28 54 65.85 60 0 0.00 EMILIN1 11117 genome.wustl.edu 37 2 27306543 27306543 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27306543 27306543 G T SNP EMILIN1 ENST00000380320 human ensembl 70_37 +1 known nonsense c.2104 p.E702* 0.997 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 30 27 47.37 66 0 0.00 EMILIN1 11117 genome.wustl.edu 37 2 27306552 27306552 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27306552 27306552 G T SNP EMILIN1 ENST00000380320 human ensembl 70_37 +1 known nonsense c.2113 p.E705* 1.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 32 24 42.86 66 0 0.00 EMILIN2 84034 genome.wustl.edu 37 18 2891551 2891551 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 2891551 2891551 C T SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.1426 p.R476W 0.235 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 6 6 50.00 16 0 0.00 EMILIN2 84034 genome.wustl.edu 37 18 2892085 2892085 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 18 2892085 2892085 G A SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.1960 p.D654N 0.028 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 9 4 30.77 20 0 0.00 EMILIN2 84034 genome.wustl.edu 37 18 2892200 2892200 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 18 2892200 2892200 C T SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.2075 p.T692M 0.000 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 10 6 37.50 11 0 0.00 EMILIN3 90187 genome.wustl.edu 37 20 39991134 39991134 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 39991134 39991134 C G SNP EMILIN3 ENST00000332312 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 10 8 44.44 11 0 0.00 EML1 2009 genome.wustl.edu 37 14 100402637 100402637 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 100402637 100402637 C T SNP EML1 ENST00000334192 human ensembl 70_37 +1 known silent c.2118 p.L706 0.931 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 21 17 44.74 31 0 0.00 EML1 2009 genome.wustl.edu 37 14 100402642 100402642 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 100402642 100402642 C G SNP EML1 ENST00000334192 human ensembl 70_37 +1 known nonsense c.2123 p.S708* 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 21 16 43.24 29 0 0.00 EML2 24139 genome.wustl.edu 37 19 46116846 46116846 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 46116846 46116846 C A SNP EML2 ENST00000587152 human ensembl 70_37 -1 known missense c.2380 p.D794Y 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 100 47 31.97 155 0 0.00 EML2 24139 genome.wustl.edu 37 19 46144973 46144973 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46144973 46144973 G C SNP EML2 ENST00000587152 human ensembl 70_37 -1 known silent c.549 p.L183 0.612 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 61 45 42.45 70 0 0.00 EML3 256364 genome.wustl.edu 37 11 62369823 62369823 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 62369823 62369823 G A SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.2705 p.S902L 0.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 49 12 19.67 41 0 0.00 EML3 256364 genome.wustl.edu 37 11 62370341 62370341 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 62370341 62370341 C T SNP EML3 ENST00000394773 human ensembl 70_37 -1 known missense c.2377 p.D793N 0.999 superfamily_Quinonprotein_ADH-like pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 6 2 25.00 17 0 0.00 EML3 256364 genome.wustl.edu 37 11 62371633 62371633 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 62371633 62371633 C T SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.023 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 48 6 11.11 39 0 0.00 EML3 256364 genome.wustl.edu 37 11 62373588 62373588 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62373588 62373588 C G SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.1603 p.D535H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 17 7 29.17 15 0 0.00 EML3 256364 genome.wustl.edu 37 11 62376235 62376235 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 62376235 62376235 C G SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.972 p.Q324H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 33 5 13.16 39 0 0.00 EML4 27436 genome.wustl.edu 37 2 42490404 42490404 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 42490404 42490404 C G SNP EML4 ENST00000318522 human ensembl 70_37 +1 known nonsense c.599 p.S200* 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 41 21 33.87 61 0 0.00 EML5 161436 genome.wustl.edu 37 14 89083219 89083219 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 89083219 89083219 G T SNP EML5 ENST00000554922 human ensembl 70_37 -1 known missense c.5647 p.L1883I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 15 4 21.05 30 0 0.00 EML5 161436 genome.wustl.edu 37 14 89130940 89130940 + Silent SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 14 89130940 89130940 G T SNP EML5 ENST00000554922 human ensembl 70_37 -1 known silent c.3306 p.S1102 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 27 4 12.90 39 0 0.00 EML5 161436 genome.wustl.edu 37 14 89181361 89181361 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 89181361 89181361 G A SNP EML5 ENST00000554922 human ensembl 70_37 -1 known missense c.1366 p.H456Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 50 9 15.00 45 0 0.00 EML6 400954 genome.wustl.edu 37 2 55054744 55054744 + Silent SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 55054744 55054744 G T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel silent c.567 p.G189 0.528 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 13 3 18.75 40 0 0.00 EML6 400954 genome.wustl.edu 37 2 55071220 55071220 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 55071220 55071220 G A SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.884 p.R295H 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 43 22 33.85 60 0 0.00 EML6 400954 genome.wustl.edu 37 2 55074750 55074750 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 55074750 55074750 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.1177 p.L393V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 26 13 33.33 61 0 0.00 EML6 400954 genome.wustl.edu 37 2 55077237 55077237 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 55077237 55077237 G A SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel silent c.1326 p.K442 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 28 16 36.36 62 0 0.00 EML6 400954 genome.wustl.edu 37 2 55077342 55077342 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 55077342 55077342 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.1431 p.F477L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 27 8 22.86 40 0 0.00 EML6 400954 genome.wustl.edu 37 2 55119690 55119690 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 55119690 55119690 C T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.2639 p.S880L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 12 13 52.00 24 0 0.00 EML6 400954 genome.wustl.edu 37 2 55130286 55130286 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 55130286 55130286 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.3230 p.S1077C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 31 7 18.42 32 0 0.00 EML6 400954 genome.wustl.edu 37 2 55130535 55130535 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 55130535 55130535 C T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.3305 p.S1102F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 21 15 41.67 32 0 0.00 EML6 400954 genome.wustl.edu 37 2 55193939 55193939 + RNA SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 55193939 55193939 G T SNP EML6 ENST00000490828 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors EML6 HGNC ENSG00000214595 79 20 20.20 60 0 0.00 EML6 400954 genome.wustl.edu 37 2 55193953 55193953 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 55193953 55193953 G A SNP EML6 ENST00000490828 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors EML6 HGNC ENSG00000214595 72 19 20.88 61 0 0.00 EMP1 2012 genome.wustl.edu 37 12 13366640 13366640 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366640 13366640 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known missense c.201 p.F67L 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 51 24 32.00 56 0 0.00 EMP1 2012 genome.wustl.edu 37 12 13366700 13366700 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366700 13366700 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known missense c.261 p.F87L 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 47 16 25.40 66 0 0.00 EMP1 2012 genome.wustl.edu 37 12 13366732 13366732 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366732 13366732 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known nonsense c.293 p.S98* 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 40 17 29.82 61 0 0.00 EMP3 2014 genome.wustl.edu 37 19 48830147 48830147 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 48830147 48830147 C G SNP EMP3 ENST00000270221 human ensembl 70_37 +1 known missense c.46 p.L16V 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20 - no_errors EMP3 HGNC ENSG00000142227 34 9 20.93 32 0 0.00 EMR1 2015 genome.wustl.edu 37 19 6901986 6901986 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 6901986 6901986 C T SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.615 p.S205 0.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 330 55 14.18 399 0 0.00 EMR1 2015 genome.wustl.edu 37 19 6908765 6908765 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 6908765 6908765 G C SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.1104 p.T368 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 126 32 20.25 146 0 0.00 EMR1 2015 genome.wustl.edu 37 19 6937311 6937311 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6937311 6937311 G A SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.2439 p.L813 0.955 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 72 22 23.40 84 0 0.00 EMR2 30817 genome.wustl.edu 37 19 14863254 14863254 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 14863254 14863254 G C SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.1675 p.L559V 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 52 7 11.86 69 0 0.00 EMR2 30817 genome.wustl.edu 37 19 14866481 14866481 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 14866481 14866481 G A SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known silent c.1401 p.F467 0.021 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 59 46 43.81 129 1 0.77 EMR2 30817 genome.wustl.edu 37 19 14867138 14867138 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14867138 14867138 C G SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.1104 p.Q368H 0.001 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 17 10 37.04 41 0 0.00 EMR2 30817 genome.wustl.edu 37 19 14884841 14884841 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 14884841 14884841 G T SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.108 p.D36E 0.000 smart_EG-like_dom,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 57 7 10.94 55 0 0.00 EMR3 84658 genome.wustl.edu 37 19 14779548 14779548 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14779548 14779548 G C SNP EMR3 ENST00000595472 human ensembl 70_37 -1 putative missense c.142 p.L48V 0.000 NULL NULL - no_errors EMR3 HGNC ENSG00000131355 32 16 33.33 36 0 0.00 EMR3 84658 genome.wustl.edu 37 19 14779642 14779642 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14779642 14779642 G C SNP EMR3 ENST00000253673 human ensembl 70_37 -1 known silent c.48 p.L16 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 22 18 45.00 40 0 0.00 EMR4P 326342 genome.wustl.edu 37 19 6960346 6960346 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 6960346 6960346 G C SNP EMR4P ENST00000600751 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors EMR4P HGNC ENSG00000268758 27 26 49.06 49 0 0.00 EMR4P 326342 genome.wustl.edu 37 19 6963770 6963770 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 6963770 6963770 G A SNP EMR4P ENST00000600751 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EMR4P HGNC ENSG00000268758 50 14 21.54 96 0 0.00 EMX2 2018 genome.wustl.edu 37 10 119302808 119302808 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 119302808 119302808 C T SNP EMX2 ENST00000369201 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 37 22 37.29 41 0 0.00 EMX2 2018 genome.wustl.edu 37 10 119308122 119308122 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 119308122 119308122 C G SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EMX2 HGNC ENSG00000170370 27 15 35.71 28 0 0.00 EMX2 2018 genome.wustl.edu 37 10 119308192 119308192 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 119308192 119308192 G A SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors EMX2 HGNC ENSG00000170370 28 16 36.36 51 0 0.00 EMX2 2018 genome.wustl.edu 37 10 119308319 119308319 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 119308319 119308319 C T SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EMX2 HGNC ENSG00000170370 22 11 33.33 26 0 0.00 EMX2 2018 genome.wustl.edu 37 10 119308877 119308877 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 119308877 119308877 C G SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors EMX2 HGNC ENSG00000170370 30 4 11.76 58 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225699534 225699534 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 225699534 225699534 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.1450 p.A484T 0.520 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 31 9 22.50 19 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225699552 225699552 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225699552 225699552 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.1432 p.E478K 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 51 30 37.04 50 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225702424 225702424 + Silent SNP A A T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 225702424 225702424 A T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known silent c.1092 p.P364 0.036 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 12 10 45.45 12 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225705419 225705419 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 225705419 225705419 T C SNP ENAH ENST00000284563 human ensembl 70_37 -1 novel missense c.1133 p.K378R 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 26 12 31.58 52 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225706921 225706921 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 225706921 225706921 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.781 p.E261K 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 73 67 47.86 102 0 0.00 ENAH 55740 genome.wustl.edu 37 1 225707234 225707234 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 225707234 225707234 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known silent c.468 p.L156 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 36 26 41.94 48 0 0.00 ENAM 10117 genome.wustl.edu 37 4 71509510 71509510 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 71509510 71509510 G C SNP ENAM ENST00000396073 human ensembl 70_37 +1 known missense c.2367 p.Q789H 0.488 NULL NULL - no_errors ENAM HGNC ENSG00000132464 45 8 15.09 98 0 0.00 ENC1 8507 genome.wustl.edu 37 5 73931944 73931944 + Missense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 73931944 73931944 C A SNP ENC1 ENST00000302351 human ensembl 70_37 -1 known missense c.367 p.A123S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 25 27 51.92 25 0 0.00 ENDOD1 23052 genome.wustl.edu 37 11 94862392 94862392 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 94862392 94862392 C G SNP ENDOD1 ENST00000278505 human ensembl 70_37 +1 known missense c.1152 p.I384M 0.099 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOD1 HGNC ENSG00000149218 40 21 34.43 80 0 0.00 ENDOU 8909 genome.wustl.edu 37 12 48107060 48107060 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 48107060 48107060 G C SNP ENDOU ENST00000229003 human ensembl 70_37 -1 known nonsense c.740 p.S247* 1.000 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 20 14 41.18 40 0 0.00 ENG 2022 genome.wustl.edu 37 9 130605495 130605495 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130605495 130605495 G A SNP ENG ENST00000373203 human ensembl 70_37 -1 known nonsense c.97 p.Q33* 0.993 NULL pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 132 26 16.46 149 0 0.00 ENGASE 64772 genome.wustl.edu 37 17 77077040 77077040 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 77077040 77077040 C T SNP ENGASE ENST00000579016 human ensembl 70_37 +1 known missense c.757 p.R253W 0.998 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 76 21 21.65 120 0 0.00 ENHO 375704 genome.wustl.edu 37 9 34521558 34521558 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 34521558 34521558 C T SNP ENHO ENST00000399775 human ensembl 70_37 -1 known missense c.136 p.E46K 0.605 NULL NULL - no_errors ENHO HGNC ENSG00000168913 51 7 12.07 60 0 0.00 ENHO 375704 genome.wustl.edu 37 9 34521603 34521603 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 34521603 34521603 A T SNP ENHO ENST00000399775 human ensembl 70_37 -1 known missense c.91 p.C31S 1.000 NULL NULL - no_errors ENHO HGNC ENSG00000168913 43 10 18.52 44 0 0.00 ENKD1 84080 genome.wustl.edu 37 16 67697103 67697103 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67697103 67697103 G C SNP ENKD1 ENST00000243878 human ensembl 70_37 -1 known missense c.1002 p.I334M 0.999 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 31 7 18.42 55 0 0.00 ENKD1 84080 genome.wustl.edu 37 16 67700140 67700140 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67700140 67700140 C T SNP ENKD1 ENST00000243878 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 14 10 41.67 8 0 0.00 ENO1 2023 genome.wustl.edu 37 1 8921484 8921484 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 8921484 8921484 C T SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known missense c.1240 p.E414K 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 42 16 27.59 43 0 0.00 ENO1 2023 genome.wustl.edu 37 1 8922948 8922948 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 8922948 8922948 G A SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known silent c.1233 p.L411 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 40 16 28.57 21 0 0.00 ENO1 2023 genome.wustl.edu 37 1 8923388 8923389 + Frame_Shift_Ins INS - - G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 8923388 8923389 - G INS ENO1 ENST00000234590 human ensembl 70_37 -1 known frame_shift_ins c.1082_1081 p.Q361fs 1.000:1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 34 4 10.53 43 0 0.00 ENO1 2023 genome.wustl.edu 37 1 8926553 8926553 + Missense_Mutation SNP T T C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 8926553 8926553 T C SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known missense c.452 p.N151S 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 61 24 28.24 66 0 0.00 ENO2 2026 genome.wustl.edu 37 12 7027274 7027274 + Silent SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 7027274 7027274 C A SNP ENO2 ENST00000229277 human ensembl 70_37 +1 known silent c.615 p.T205 0.996 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 26 5 16.13 35 0 0.00 ENO2 2026 genome.wustl.edu 37 12 7031194 7031194 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 7031194 7031194 G C SNP ENO2 ENST00000534977 human ensembl 70_37 +1 putative rna NULL NULL 0.013 - - - no_errors ENO2 HGNC ENSG00000111674 68 22 24.44 65 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4856159 4856159 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4856159 4856159 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.155 p.G52E 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 8 14 63.64 39 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4856627 4856627 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4856627 4856627 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.301 p.E101K 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 8 18 69.23 35 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4857069 4857069 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4857069 4857069 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.373 p.E125K 0.998 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 11 23 67.65 63 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4857102 4857102 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4857102 4857102 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.406 p.D136N 1.000 pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 8 20 71.43 47 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4859382 4859382 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 4859382 4859382 C T SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known silent c.1011 p.C337 0.995 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 41 26 38.81 53 0 0.00 ENO3 2027 genome.wustl.edu 37 17 4859940 4859940 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4859940 4859940 C T SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known silent c.1140 p.F380 1.000 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 34 19 35.85 44 0 0.00 ENO4 387712 genome.wustl.edu 37 10 118630744 118630744 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118630744 118630744 G C SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1165 p.E389Q 0.964 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 21 13 38.24 22 0 0.00 ENO4 387712 genome.wustl.edu 37 10 118633637 118633637 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118633637 118633637 G A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known silent c.1275 p.E425 1.000 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 42 26 38.24 50 0 0.00 ENO4 387712 genome.wustl.edu 37 10 118633639 118633639 + Missense_Mutation SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118633639 118633639 T A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1277 p.M426K 1.000 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 42 27 39.13 50 0 0.00 ENO4 387712 genome.wustl.edu 37 10 118635637 118635637 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 118635637 118635637 G A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1412 p.G471E 0.939 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 13 11 45.83 38 0 0.00 ENOSF1 55556 genome.wustl.edu 37 18 674174 674174 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 674174 674174 G A SNP ENOSF1 ENST00000583973 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ENOSF1 HGNC ENSG00000132199 44 13 22.81 49 0 0.00 ENOSF1 55556 genome.wustl.edu 37 18 677389 677389 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 677389 677389 C G SNP ENOSF1 ENST00000340116 human ensembl 70_37 -1 known silent c.1125 p.L375 1.000 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 27 6 18.18 30 0 0.00 ENOSF1 55556 genome.wustl.edu 37 18 690729 690730 + Frame_Shift_Ins INS - - T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 18 690729 690730 - T INS ENOSF1 ENST00000581475 human ensembl 70_37 -1 known frame_shift_ins c.440_439 p.T147fs 0.009:0.019 NULL pfam_Mandelate_racemase_N - no_errors ENOSF1 HGNC ENSG00000132199 4 5 55.56 8 0 0.00 ENOSF1 55556 genome.wustl.edu 37 18 690729 690730 + Frame_Shift_Ins INS - - T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 690729 690730 - T INS ENOSF1 ENST00000581475 human ensembl 70_37 -1 known frame_shift_ins c.440_439 p.T147fs 0.009:0.019 NULL pfam_Mandelate_racemase_N - no_errors ENOSF1 HGNC ENSG00000132199 5 6 54.55 9 0 0.00 ENOSF1 55556 genome.wustl.edu 37 18 697270 697270 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 697270 697270 C T SNP ENOSF1 ENST00000340116 human ensembl 70_37 -1 known silent c.342 p.R114 1.000 pfam_Mandelate_racemase_N pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 39 9 18.75 65 0 0.00 ENOX1 55068 genome.wustl.edu 37 13 43843680 43843680 + Missense_Mutation SNP T T G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 13 43843680 43843680 T G SNP ENOX1 ENST00000261488 human ensembl 70_37 -1 known missense c.1480 p.K494Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 34 13 27.66 49 0 0.00 ENOX1 55068 genome.wustl.edu 37 13 43934081 43934081 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 43934081 43934081 G A SNP ENOX1 ENST00000261488 human ensembl 70_37 -1 known silent c.495 p.C165 0.930 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 12 10 45.45 29 0 0.00 ENOX2 10495 genome.wustl.edu 37 X 129769012 129769012 + Silent SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 129769012 129769012 T C SNP ENOX2 ENST00000338144 human ensembl 70_37 -1 known silent c.1452 p.K484 0.988 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 42 35 45.45 77 0 0.00 ENOX2 10495 genome.wustl.edu 37 X 129799721 129799721 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 129799721 129799721 C G SNP ENOX2 ENST00000338144 human ensembl 70_37 -1 known missense c.997 p.E333Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 20 5 19.23 26 0 0.00 ENPEP 2028 genome.wustl.edu 37 4 111397773 111397773 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 111397773 111397773 C G SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known nonsense c.203 p.S68* 0.193 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 14 8 36.36 20 0 0.00 ENPEP 2028 genome.wustl.edu 37 4 111397808 111397808 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 111397808 111397808 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.238 p.A80T 0.083 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 38 5 11.63 59 0 0.00 ENPEP 2028 genome.wustl.edu 37 4 111397949 111397949 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 111397949 111397949 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.379 p.A127T 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 31 12 27.27 38 0 0.00 ENPEP 2028 genome.wustl.edu 37 4 111398096 111398096 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 111398096 111398096 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.526 p.E176K 0.485 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 8 3 27.27 23 0 0.00 ENPEP 2028 genome.wustl.edu 37 4 111452388 111452388 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 111452388 111452388 G C SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.1762 p.D588H 0.838 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 9 13 59.09 58 0 0.00 ENPP1 5167 genome.wustl.edu 37 6 132171171 132171171 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 132171171 132171171 A G SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known missense c.355 p.N119D 1.000 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 49 24 32.88 81 0 0.00 ENPP1 5167 genome.wustl.edu 37 6 132172328 132172328 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 132172328 132172328 G A SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known silent c.477 p.L159 0.124 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 37 26 41.27 65 0 0.00 ENPP1 5167 genome.wustl.edu 37 6 132189247 132189247 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 132189247 132189247 C A SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known silent c.1254 p.L418 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 46 23 33.33 49 0 0.00 ENPP1 5167 genome.wustl.edu 37 6 132207745 132207745 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 132207745 132207745 C T SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known missense c.2488 p.H830Y 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 23 19 44.19 51 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120569809 120569809 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 120569809 120569809 T G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2700 p.E900D 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 43 13 23.21 49 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120575239 120575239 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 120575239 120575239 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2435 p.S812N 0.991 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 25 5 16.67 40 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120581607 120581607 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 120581607 120581607 C G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2077 p.E693Q 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 25 4 13.79 29 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120583068 120583068 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 120583068 120583068 G C SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known silent c.1950 p.L650 0.415 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 36 18 33.33 26 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120595987 120595987 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 120595987 120595987 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 16 10 38.46 45 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120596225 120596225 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 120596225 120596225 C G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1588 p.D530H 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 81 70 46.36 57 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120596257 120596257 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 120596257 120596257 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1556 p.G519E 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 25 11 30.56 57 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120628552 120628552 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 120628552 120628552 G A SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known silent c.730 p.L244 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 51 12 19.05 29 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120628593 120628593 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 120628593 120628593 C A SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.689 p.G230V 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 51 18 26.09 62 0 0.00 ENPP2 5168 genome.wustl.edu 37 8 120650743 120650743 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 120650743 120650743 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.58 p.V20I 0.010 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 210 65 23.64 218 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 131962640 131962640 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 131962640 131962640 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.124 p.G42W 0.992 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 17 7 29.17 25 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 131995358 131995358 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 6 131995358 131995358 C G SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known silent c.699 p.L233 0.974 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 33 20 37.74 41 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 131997896 131997896 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 131997896 131997896 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.893 p.R298M 0.966 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 37 7 15.91 40 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 132004303 132004303 + Splice_Site SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 132004303 132004303 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known splice_site c.1120+1 e12+1 1.000 - - - no_errors ENPP3 HGNC ENSG00000154269 17 15 46.88 39 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 132014695 132014695 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 132014695 132014695 T C SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.1343 p.L448P 0.998 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 76 12 13.64 97 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 132061484 132061484 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 132061484 132061484 C T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known silent c.2421 p.I807 0.994 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 47 21 30.88 78 0 0.00 ENPP3 5169 genome.wustl.edu 37 6 132067987 132067987 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 132067987 132067987 G A SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.2519 p.R840H 0.979 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 105 63 37.50 169 0 0.00 ENPP4 22875 genome.wustl.edu 37 6 46107443 46107443 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 46107443 46107443 G A SNP ENPP4 ENST00000321037 human ensembl 70_37 +1 known silent c.123 p.L41 0.007 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 73 35 32.41 33 0 0.00 ENPP4 22875 genome.wustl.edu 37 6 46111060 46111060 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 46111060 46111060 C G SNP ENPP4 ENST00000321037 human ensembl 70_37 +1 known missense c.1045 p.L349V 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 66 37 35.92 101 1 0.98 ENPP6 133121 genome.wustl.edu 37 4 185074749 185074749 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 185074749 185074749 G A SNP ENPP6 ENST00000296741 human ensembl 70_37 -1 known silent c.379 p.L127 0.997 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 53 17 24.29 108 0 0.00 ENPP6 133121 genome.wustl.edu 37 4 185138866 185138866 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 185138866 185138866 G C SNP ENPP6 ENST00000296741 human ensembl 70_37 -1 known nonsense c.107 p.S36* 0.024 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 14 5 26.32 17 0 0.00 ENPP7 339221 genome.wustl.edu 37 17 77708977 77708977 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 77708977 77708977 G A SNP ENPP7 ENST00000328313 human ensembl 70_37 +1 known missense c.535 p.V179M 1.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 4 18 81.82 26 0 0.00 ENPP7 339221 genome.wustl.edu 37 17 77709214 77709214 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 77709214 77709214 G A SNP ENPP7 ENST00000328313 human ensembl 70_37 +1 known missense c.772 p.D258N 0.972 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 52 11 17.46 53 0 0.00 ENSG00000105642 0 genome.wustl.edu 37 19 18092652 18092652 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 18092652 18092652 G A SNP ENSG00000105642 ENST00000601725 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors CTB-52I2.8 Clone_based_vega_gene ENSG00000105642 30 10 25.00 58 0 0.00 ENSG00000116883 0 genome.wustl.edu 37 1 36793686 36793686 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 36793686 36793686 C T SNP ENSG00000116883 ENST00000373137 human ensembl 70_37 +1 known silent c.252 p.F84 0.092 NULL NULL - no_errors AL591845.1 Clone_based_ensembl_gene ENSG00000116883 132 64 32.49 194 0 0.00 ENSG00000121388 0 genome.wustl.edu 37 13 19761465 19761465 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 19761465 19761465 G A SNP ENSG00000121388 ENST00000382988 human ensembl 70_37 +1 putative silent c.239 p.*80 1.000 NULL NULL - no_errors RP11-408E5.4 Clone_based_vega_gene ENSG00000121388 5 8 61.54 37 0 0.00 ENSG00000141854 0 genome.wustl.edu 37 19 14184042 14184042 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14184042 14184042 C G SNP ENSG00000141854 ENST00000269720 human ensembl 70_37 +1 known missense c.347 p.S116C 0.011 NULL NULL - no_errors CTB-55O6.8 Clone_based_vega_gene ENSG00000141854 12 5 29.41 12 0 0.00 ENSG00000141979 0 genome.wustl.edu 37 19 16677459 16677459 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 16677459 16677459 C G SNP ENSG00000141979 ENST00000409035 human ensembl 70_37 -1 known missense c.1221 p.E407D 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors CTD-3222D19.2 Clone_based_vega_gene ENSG00000141979 29 14 32.56 29 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18839300 18839300 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 18839300 18839300 T C SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 25 7 21.88 19 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18841226 18841226 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 18841226 18841226 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 547 76 12.18 601 1 0.17 ENSG00000161103 0 genome.wustl.edu 37 22 18844558 18844558 + RNA SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 22 18844558 18844558 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.097 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 18 3 14.29 16 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18844654 18844654 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 18844654 18844654 T A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 46 8 14.81 104 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 18844766 18844766 G A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.223 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 7 4 36.36 10 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18844790 18844790 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 18844790 18844790 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 10 3 23.08 11 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18845939 18845939 + RNA SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 18845939 18845939 G A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 2 3 60.00 11 0 0.00 ENSG00000161103 0 genome.wustl.edu 37 22 18846228 18846228 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 18846228 18846228 G C SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000161103 60 12 16.67 34 0 0.00 ENSG00000166104 0 genome.wustl.edu 37 15 62537946 62537946 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 62537946 62537946 T G SNP ENSG00000166104 ENST00000570077 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-299H22.3 Clone_based_vega_gene ENSG00000166104 28 7 20.00 42 0 0.00 ENSG00000166329 0 genome.wustl.edu 37 17 55822601 55822601 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 55822601 55822601 G A SNP ENSG00000166329 ENST00000299415 human ensembl 70_37 -1 putative silent c.33 p.L11 0.999 NULL NULL - no_errors AC007431.1 Clone_based_vega_gene ENSG00000166329 17 10 37.04 19 0 0.00 ENSG00000167807 0 genome.wustl.edu 37 19 10426678 10426678 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10426678 10426678 G T SNP ENSG00000167807 ENST00000541276 human ensembl 70_37 -1 known missense c.4 p.H2N 0.938 NULL pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type - no_errors FDX1L Uniprot_genename ENSG00000167807 30 17 36.17 59 0 0.00 ENSG00000169203 0 genome.wustl.edu 37 16 29496834 29496834 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 16 29496834 29496834 C T SNP ENSG00000169203 ENST00000354563 human ensembl 70_37 -1 known silent c.441 p.K147 0.001 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000169203 16 9 36.00 36 0 0.00 ENSG00000170858 0 genome.wustl.edu 37 19 55220959 55220959 + RNA SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 55220959 55220959 G T SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000170858 11 6 35.29 13 0 0.00 ENSG00000170858 0 genome.wustl.edu 37 19 55221457 55221457 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 55221457 55221457 G A SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000170858 32 12 27.27 64 0 0.00 ENSG00000170858 0 genome.wustl.edu 37 19 55221572 55221572 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55221572 55221572 G A SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000170858 118 43 26.71 135 1 0.74 ENSG00000170858 0 genome.wustl.edu 37 19 55224638 55224638 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 55224638 55224638 C T SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000170858 51 32 38.55 83 0 0.00 ENSG00000173213 0 genome.wustl.edu 37 18 47436 47436 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 47436 47436 G A SNP ENSG00000173213 ENST00000573909 human ensembl 70_37 -1 putative missense c.1187 p.A396V 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 18 10 35.71 26 0 0.00 ENSG00000173213 0 genome.wustl.edu 37 18 49208 49208 + Missense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 49208 49208 G A SNP ENSG00000173213 ENST00000573909 human ensembl 70_37 -1 putative missense c.11 p.P4L 0.997 NULL pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 33 5 13.16 66 0 0.00 ENSG00000175773 0 genome.wustl.edu 37 11 130271838 130271838 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 130271838 130271838 C G SNP ENSG00000175773 ENST00000318117 human ensembl 70_37 +1 known rna NULL NULL 0.195 - - - no_errors RP11-121M22.1 Clone_based_vega_gene ENSG00000175773 58 30 33.71 87 0 0.00 ENSG00000176515 0 genome.wustl.edu 37 6 1102063 1102063 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 1102063 1102063 A C SNP ENSG00000176515 ENST00000314040 human ensembl 70_37 +1 known missense c.47 p.E16A 0.001 NULL NULL - no_errors AL033381.1 Clone_based_ensembl_gene ENSG00000176515 15 11 42.31 32 0 0.00 ENSG00000176584 0 genome.wustl.edu 37 10 124488978 124488978 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124488978 124488978 G T SNP ENSG00000176584 ENST00000435147 human ensembl 70_37 +1 known rna NULL NULL 0.410 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000176584 88 46 34.33 104 1 0.94 ENSG00000176584 0 genome.wustl.edu 37 10 124489008 124489008 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124489008 124489008 T G SNP ENSG00000176584 ENST00000435147 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000176584 46 47 50.54 110 0 0.00 ENSG00000176584 0 genome.wustl.edu 37 10 124558532 124558532 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 124558532 124558532 C T SNP ENSG00000176584 ENST00000419885 human ensembl 70_37 +1 known rna NULL NULL 0.072 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000176584 47 12 20.00 40 0 0.00 ENSG00000176593 0 genome.wustl.edu 37 19 58513717 58513717 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 58513717 58513717 C G SNP ENSG00000176593 ENST00000550135 human ensembl 70_37 +1 putative nonsense c.239 p.S80* 0.003 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene ENSG00000176593 36 15 29.41 49 0 0.00 ENSG00000176593 0 genome.wustl.edu 37 19 58514257 58514257 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 58514257 58514257 C G SNP ENSG00000176593 ENST00000550135 human ensembl 70_37 +1 putative missense c.779 p.A260G 0.003 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene ENSG00000176593 3 3 50.00 11 0 0.00 ENSG00000177596 0 genome.wustl.edu 37 13 74988828 74988828 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 74988828 74988828 G A SNP ENSG00000177596 ENST00000325811 human ensembl 70_37 -1 known nonsense c.289 p.Q97* 0.001 NULL NULL - no_errors AL355390.1 Clone_based_ensembl_gene ENSG00000177596 44 14 24.14 66 0 0.00 ENSG00000178636 0 genome.wustl.edu 37 4 120115434 120115434 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 120115434 120115434 C A SNP ENSG00000178636 ENST00000515843 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-455G16.1 Clone_based_vega_gene ENSG00000178636 36 4 10.00 43 0 0.00 ENSG00000178932 0 genome.wustl.edu 37 17 73817463 73817463 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73817463 73817463 C A SNP ENSG00000178932 ENST00000326348 human ensembl 70_37 -1 known missense c.492 p.R164S 0.000 NULL NULL - no_errors AC087289.1 Clone_based_ensembl_gene ENSG00000178932 33 25 43.10 48 0 0.00 ENSG00000179755 0 genome.wustl.edu 37 16 34256794 34256794 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 34256794 34256794 C A SNP ENSG00000179755 ENST00000319817 human ensembl 70_37 +1 known missense c.38 p.A13E 0.878 NULL NULL - no_errors CTD-2144E22.5 Clone_based_vega_gene ENSG00000179755 29 21 42.00 20 0 0.00 ENSG00000180574 0 genome.wustl.edu 37 12 10658646 10658646 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 10658646 10658646 C T SNP ENSG00000180574 ENST00000538173 human ensembl 70_37 +1 known missense c.145 p.H49Y 1.000 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_genename ENSG00000180574 12 24 66.67 86 0 0.00 ENSG00000180574 0 genome.wustl.edu 37 12 10659246 10659246 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 10659246 10659246 G C SNP ENSG00000180574 ENST00000538173 human ensembl 70_37 +1 known missense c.745 p.D249H 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_genename ENSG00000180574 22 10 31.25 76 0 0.00 ENSG00000180909 0 genome.wustl.edu 37 11 6173776 6173776 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6173776 6173776 A C SNP ENSG00000180909 ENST00000316506 human ensembl 70_37 -1 known missense c.43 p.F15V 0.257 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors AC022762.1 Clone_based_ensembl_gene ENSG00000180909 19 6 24.00 41 0 0.00 ENSG00000180913 0 genome.wustl.edu 37 11 6150204 6150204 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 6150204 6150204 G C SNP ENSG00000180913 ENST00000316517 human ensembl 70_37 +1 known missense c.365 p.R122T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors AC111177.1 Clone_based_ensembl_gene ENSG00000180913 17 29 63.04 53 0 0.00 ENSG00000181464 0 genome.wustl.edu 37 17 15468963 15468963 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 15468963 15468963 G C SNP ENSG00000181464 ENST00000312127 human ensembl 70_37 -1 known missense c.616 p.P206A 0.016 NULL NULL - no_errors CDRT1 Uniprot_genename ENSG00000181464 289 62 17.66 363 0 0.00 ENSG00000181464 0 genome.wustl.edu 37 17 15469463 15469463 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 15469463 15469463 G C SNP ENSG00000181464 ENST00000312127 human ensembl 70_37 -1 known nonsense c.116 p.S39* 0.983 NULL NULL - no_errors CDRT1 Uniprot_genename ENSG00000181464 46 20 30.30 76 0 0.00 ENSG00000182356 0 genome.wustl.edu 37 22 18835754 18835754 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 22 18835754 18835754 G A SNP ENSG00000182356 ENST00000427789 human ensembl 70_37 +1 known missense c.1310 p.R437H 0.003 NULL NULL - no_errors AC008132.13 Clone_based_vega_gene ENSG00000182356 1 4 80.00 8 0 0.00 ENSG00000183154 0 genome.wustl.edu 37 8 37593486 37593487 + Frame_Shift_Ins INS - - A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 37593486 37593487 - A INS ENSG00000183154 ENST00000330539 human ensembl 70_37 -1 putative frame_shift_ins c.530_529 p.S177fs 0.000:0.002 NULL NULL - no_errors RP11-863K10.7 Clone_based_vega_gene ENSG00000183154 18 2 10.00 14 0 0.00 ENSG00000183292 0 genome.wustl.edu 37 2 131334526 131334526 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 131334526 131334526 C G SNP ENSG00000183292 ENST00000409982 human ensembl 70_37 +1 putative silent c.480 p.A160 0.016 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 - no_errors AC140481.2 Clone_based_vega_gene ENSG00000183292 56 27 32.53 53 0 0.00 ENSG00000183657 0 genome.wustl.edu 37 3 171510212 171510212 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 171510212 171510212 C T SNP ENSG00000183657 ENST00000331659 human ensembl 70_37 -1 known silent c.387 p.Q129 0.003 NULL NULL - no_errors PP13439 Uniprot_genename ENSG00000183657 34 12 26.09 26 0 0.00 ENSG00000183657 0 genome.wustl.edu 37 3 171510320 171510320 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 171510320 171510320 G A SNP ENSG00000183657 ENST00000331659 human ensembl 70_37 -1 known silent c.279 p.L93 0.000 NULL NULL - no_errors PP13439 Uniprot_genename ENSG00000183657 34 9 20.93 34 0 0.00 ENSG00000184774 0 genome.wustl.edu 37 1 202795002 202795002 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 202795002 202795002 C G SNP ENSG00000184774 ENST00000330493 human ensembl 70_37 +1 known missense c.368 p.A123G 0.000 NULL pfam_Glyco_transf_54 - no_errors RP11-480I12.4 Clone_based_vega_gene ENSG00000184774 40 10 20.00 44 0 0.00 ENSG00000184909 0 genome.wustl.edu 37 1 178514730 178514730 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 178514730 178514730 C T SNP ENSG00000184909 ENST00000367636 human ensembl 70_37 +1 known missense c.116 p.S39F 0.002 NULL NULL - no_errors C1ORF220 Uniprot_genename ENSG00000184909 14 21 60.00 35 0 0.00 ENSG00000185044 0 genome.wustl.edu 37 1 143355622 143355622 + RNA SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 143355622 143355622 G T SNP ENSG00000185044 ENST00000423249 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BX004987.4 Clone_based_vega_gene ENSG00000185044 19 5 20.83 22 0 0.00 ENSG00000185044 0 genome.wustl.edu 37 1 143465137 143465137 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 143465137 143465137 G A SNP ENSG00000185044 ENST00000419027 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BX004987.4 Clone_based_vega_gene ENSG00000185044 41 19 31.67 25 0 0.00 ENSG00000186322 0 genome.wustl.edu 37 15 82808975 82808975 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 82808975 82808975 G C SNP ENSG00000186322 ENST00000306827 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP13-608F4.1 Clone_based_vega_gene ENSG00000186322 115 40 25.81 184 0 0.00 ENSG00000187185 0 genome.wustl.edu 37 16 57850193 57850193 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 57850193 57850193 G A SNP ENSG00000187185 ENST00000335616 human ensembl 70_37 +1 known missense c.112 p.E38K 0.000 NULL NULL - no_errors CTD-2600O9.1 Clone_based_vega_gene ENSG00000187185 19 5 20.83 20 0 0.00 ENSG00000187686 0 genome.wustl.edu 37 11 124984040 124984040 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 124984040 124984040 C T SNP ENSG00000187686 ENST00000534728 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-687M24.3 Clone_based_vega_gene ENSG00000187686 41 5 10.64 63 0 0.00 ENSG00000187812 0 genome.wustl.edu 37 15 76069745 76069745 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 76069745 76069745 G A SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.803 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 56 12 17.65 105 0 0.00 ENSG00000187812 0 genome.wustl.edu 37 15 76071810 76071810 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 76071810 76071810 C A SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 118 45 27.61 192 0 0.00 ENSG00000187812 0 genome.wustl.edu 37 15 76074660 76074660 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 76074660 76074660 G T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.960 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 111 26 18.84 103 0 0.00 ENSG00000187812 0 genome.wustl.edu 37 15 76074681 76074681 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 76074681 76074681 G T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 45 26 36.62 116 0 0.00 ENSG00000187812 0 genome.wustl.edu 37 15 76075301 76075301 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 76075301 76075301 C T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 100 19 15.97 90 0 0.00 ENSG00000187979 0 genome.wustl.edu 37 22 18668923 18668923 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 18668923 18668923 G A SNP ENSG00000187979 ENST00000440673 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors AC008079.9 Clone_based_vega_gene ENSG00000187979 115 28 19.58 110 0 0.00 ENSG00000188002 0 genome.wustl.edu 37 5 1632866 1632866 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 1632866 1632866 C T SNP ENSG00000188002 ENST00000343123 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188002 58 21 26.58 72 0 0.00 ENSG00000188242 0 genome.wustl.edu 37 5 472823 472823 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 472823 472823 G T SNP ENSG00000188242 ENST00000342584 human ensembl 70_37 -1 putative missense c.228 p.F76L 0.001 NULL NULL - no_errors CTD-2228K2.5 Clone_based_vega_gene ENSG00000188242 98 13 11.71 40 0 0.00 ENSG00000188242 0 genome.wustl.edu 37 5 472834 472834 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 472834 472834 C T SNP ENSG00000188242 ENST00000342584 human ensembl 70_37 -1 putative missense c.217 p.E73K 0.001 NULL NULL - no_errors CTD-2228K2.5 Clone_based_vega_gene ENSG00000188242 29 20 40.82 42 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12222435 12222435 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 12222435 12222435 G C SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.73 p.E25Q 0.887 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 20 12 37.50 15 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12222913 12222913 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12222913 12222913 G A SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.551 p.R184Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 26 11 29.73 44 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12223501 12223501 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12223501 12223501 G C SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1139 p.C380S 0.287 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 24 23 48.94 46 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12223527 12223527 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 12223527 12223527 C T SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1165 p.R389C 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 50 34 40.48 61 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12223607 12223607 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12223607 12223607 G T SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1245 p.E415D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 26 10 27.78 36 0 0.00 ENSG00000188474 0 genome.wustl.edu 37 19 12223676 12223676 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 12223676 12223676 G C SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1314 p.L438F 0.076 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 27 18 40.00 40 0 0.00 ENSG00000189238 0 genome.wustl.edu 37 12 127211217 127211217 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 127211217 127211217 C T SNP ENSG00000189238 ENST00000539315 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-173C20.1 Clone_based_vega_gene ENSG00000189238 18 18 50.00 33 0 0.00 ENSG00000189238 0 genome.wustl.edu 37 12 127229808 127229809 + RNA INS - - T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 127229808 127229809 - T INS ENSG00000189238 ENST00000345111 human ensembl 70_37 +1 known rna NULL NULL 0.006:0.004 - - - no_errors RP11-173C20.1 Clone_based_vega_gene ENSG00000189238 39 13 25.00 27 0 0.00 ENSG00000189275 0 genome.wustl.edu 37 10 133608290 133608290 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 10 133608290 133608290 C T SNP ENSG00000189275 ENST00000341866 human ensembl 70_37 -1 known missense c.86 p.S29N 0.000 NULL NULL - no_errors AL450307.1 Clone_based_ensembl_gene ENSG00000189275 60 15 19.74 61 0 0.00 ENSG00000196364 0 genome.wustl.edu 37 16 1311359 1311359 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 1311359 1311359 G C SNP ENSG00000196364 ENST00000440800 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-616M22.6 Clone_based_vega_gene ENSG00000196364 35 11 23.91 57 0 0.00 ENSG00000196364 0 genome.wustl.edu 37 16 1312877 1312877 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1312877 1312877 G T SNP ENSG00000196364 ENST00000440800 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-616M22.6 Clone_based_vega_gene ENSG00000196364 47 34 41.98 89 0 0.00 ENSG00000196690 0 genome.wustl.edu 37 1 17198357 17198357 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 17198357 17198357 C T SNP ENSG00000196690 ENST00000356370 human ensembl 70_37 -1 known nonsense c.287 p.W96* 0.004 NULL NULL - no_errors BX284668.1 Clone_based_ensembl_gene ENSG00000196690 19 6 24.00 19 0 0.00 ENSG00000196893 0 genome.wustl.edu 37 17 18855668 18855668 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18855668 18855668 C T SNP ENSG00000196893 ENST00000354432 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC090286.4 Clone_based_vega_gene ENSG00000196893 126 42 25.00 183 0 0.00 ENSG00000197182 0 genome.wustl.edu 37 22 46501603 46501603 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 46501603 46501603 C G SNP ENSG00000197182 ENST00000381051 human ensembl 70_37 +1 putative silent c.522 p.A174 0.008 NULL NULL - no_errors FLJ27365 Uniprot_genename ENSG00000197182 18 2 10.00 31 0 0.00 ENSG00000197210 0 genome.wustl.edu 37 22 21470273 21470273 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 21470273 21470273 C T SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 48 6 11.11 91 0 0.00 ENSG00000197210 0 genome.wustl.edu 37 22 21477296 21477296 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21477296 21477296 C T SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 46 10 17.86 38 0 0.00 ENSG00000197210 0 genome.wustl.edu 37 22 21477351 21477351 + RNA SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 22 21477351 21477351 C T SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 4 3 42.86 8 0 0.00 ENSG00000197210 0 genome.wustl.edu 37 22 21477651 21477651 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 21477651 21477651 C A SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 16 8 33.33 13 0 0.00 ENSG00000197301 0 genome.wustl.edu 37 12 66275622 66275622 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 66275622 66275622 G C SNP ENSG00000197301 ENST00000439236 human ensembl 70_37 -1 putative nonsense c.143 p.S48* 0.001 NULL NULL - no_errors RP11-366L20.2 Clone_based_vega_gene ENSG00000197301 22 3 12.00 43 0 0.00 ENSG00000197604 0 genome.wustl.edu 37 10 72195234 72195234 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 72195234 72195234 C T SNP ENSG00000197604 ENST00000420338 human ensembl 70_37 +1 known missense c.181 p.L61F 0.988 NULL NULL - no_errors AC022532.1 Clone_based_ensembl_gene ENSG00000197604 35 17 32.08 42 0 0.00 ENSG00000198022 0 genome.wustl.edu 37 X 134814923 134814923 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 134814923 134814923 C T SNP ENSG00000198022 ENST00000444691 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-432N13.4 Clone_based_vega_gene ENSG00000198022 146 30 17.05 211 0 0.00 ENSG00000198491 0 genome.wustl.edu 37 3 186921620 186921620 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 186921620 186921620 C G SNP ENSG00000198491 ENST00000356133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-208N14.4 Clone_based_vega_gene ENSG00000198491 86 37 30.08 47 0 0.00 ENSG00000199633 0 genome.wustl.edu 37 15 78383588 78383588 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 78383588 78383588 G C SNP ENSG00000199633 ENST00000362763 human ensembl 70_37 -1 novel rna NULL NULL 0.543 - - - no_errors SNORA63 RFAM ENSG00000199633 53 11 17.19 31 0 0.00 ENSG00000199640 0 genome.wustl.edu 37 8 50242806 50242806 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 50242806 50242806 C A SNP ENSG00000199640 ENST00000362770 human ensembl 70_37 +1 novel rna NULL NULL 0.005 - - - no_errors 7SK RFAM ENSG00000199640 36 4 10.00 39 0 0.00 ENSG00000199697 0 genome.wustl.edu 37 17 60761284 60761284 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 60761284 60761284 C T SNP ENSG00000199697 ENST00000362827 human ensembl 70_37 +1 novel rna NULL NULL 0.089 - - - no_errors U6 RFAM ENSG00000199697 33 32 49.23 23 0 0.00 ENSG00000200063 0 genome.wustl.edu 37 17 76396041 76396041 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 76396041 76396041 C T SNP ENSG00000200063 ENST00000363193 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors SNORA30 RFAM ENSG00000200063 5 7 58.33 9 0 0.00 ENSG00000200794 0 genome.wustl.edu 37 12 110100744 110100744 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 110100744 110100744 G A SNP ENSG00000200794 ENST00000363924 human ensembl 70_37 -1 novel rna NULL NULL 0.064 - - - no_errors 7SK RFAM ENSG00000200794 41 11 21.15 35 0 0.00 ENSG00000201483 0 genome.wustl.edu 37 6 7187819 7187819 + RNA SNP T T G TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 6 7187819 7187819 T G SNP ENSG00000201483 ENST00000364613 human ensembl 70_37 -1 novel rna NULL NULL 0.005 - - - no_errors Y_RNA RFAM ENSG00000201483 11 4 26.67 8 0 0.00 ENSG00000201619 0 genome.wustl.edu 37 1 179170738 179170738 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179170738 179170738 C G SNP ENSG00000201619 ENST00000364749 human ensembl 70_37 +1 novel rna NULL NULL 0.040 - - - no_errors SNORA67 RFAM ENSG00000201619 16 8 33.33 15 0 0.00 ENSG00000201912 0 genome.wustl.edu 37 X 144138901 144138901 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 144138901 144138901 A G SNP ENSG00000201912 ENST00000365042 human ensembl 70_37 +1 novel rna NULL NULL 0.004 - - - no_errors 7SK RFAM ENSG00000201912 12 6 33.33 37 0 0.00 ENSG00000202100 0 genome.wustl.edu 37 17 30790491 30790491 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 30790491 30790491 C T SNP ENSG00000202100 ENST00000365230 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000202100 30 28 48.28 29 0 0.00 ENSG00000202275 0 genome.wustl.edu 37 14 104263661 104263661 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 104263661 104263661 G A SNP ENSG00000202275 ENST00000365405 human ensembl 70_37 -1 novel rna NULL NULL 0.004 - - - no_errors SNORD51 RFAM ENSG00000202275 20 8 28.57 29 0 0.00 ENSG00000202438 0 genome.wustl.edu 37 6 130895150 130895150 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 130895150 130895150 G C SNP ENSG00000202438 ENST00000365568 human ensembl 70_37 -1 novel rna NULL NULL 0.022 - - - no_errors Y_RNA RFAM ENSG00000202438 56 8 12.50 30 0 0.00 ENSG00000203279 0 genome.wustl.edu 37 9 100000946 100000946 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 100000946 100000946 G C SNP ENSG00000203279 ENST00000366109 human ensembl 70_37 -1 known rna NULL NULL 0.857 - - - no_errors RP11-498P14.5 Clone_based_vega_gene ENSG00000203279 49 28 35.90 85 0 0.00 ENSG00000203335 0 genome.wustl.edu 37 7 153755823 153755823 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 153755823 153755823 G A SNP ENSG00000203335 ENST00000366161 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000203335 48 22 30.99 21 0 0.00 ENSG00000203335 0 genome.wustl.edu 37 7 153757799 153757800 + RNA INS - - A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 153757799 153757800 - A INS ENSG00000203335 ENST00000542406 human ensembl 70_37 -1 known rna NULL NULL 0.129:0.124 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000203335 8 4 33.33 10 0 0.00 ENSG00000203356 0 genome.wustl.edu 37 1 51662701 51662702 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 51662701 51662702 - A INS ENSG00000203356 ENST00000366181 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors RP11-296A18.3 Clone_based_vega_gene ENSG00000203356 29 4 12.12 21 0 0.00 ENSG00000203650 0 genome.wustl.edu 37 X 117991591 117991591 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 117991591 117991591 C T SNP ENSG00000203650 ENST00000412422 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP4-562J12.2 Clone_based_vega_gene ENSG00000203650 26 22 45.83 31 0 0.00 ENSG00000203691 0 genome.wustl.edu 37 1 225601659 225601659 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 225601659 225601659 G C SNP ENSG00000203691 ENST00000366845 human ensembl 70_37 +1 known missense c.84 p.K28N 0.004 NULL NULL - no_errors AC092811.1 Clone_based_ensembl_gene ENSG00000203691 25 18 41.86 36 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142634897 142634897 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 142634897 142634897 G A SNP ENSG00000203849 ENST00000369381 human ensembl 70_37 -1 known rna NULL NULL 0.028 - - - no_errors AL583842.6 Clone_based_vega_gene ENSG00000203849 126 14 10.00 76 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142634916 142634916 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 142634916 142634916 G T SNP ENSG00000203849 ENST00000369381 human ensembl 70_37 -1 known rna NULL NULL 0.079 - - - no_errors AL583842.6 Clone_based_vega_gene ENSG00000203849 52 8 13.33 38 0 0.00 ENSG00000203863 0 genome.wustl.edu 37 6 89675584 89675584 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89675584 89675584 G C SNP ENSG00000203863 ENST00000369474 human ensembl 70_37 +1 known missense c.223 p.D75H 0.012 NULL NULL - no_errors AL079342.1 Clone_based_ensembl_gene ENSG00000203863 25 18 41.86 37 0 0.00 ENSG00000203863 0 genome.wustl.edu 37 6 89675589 89675589 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 89675589 89675589 G A SNP ENSG00000203863 ENST00000369474 human ensembl 70_37 +1 known silent c.228 p.L76 0.035 NULL NULL - no_errors AL079342.1 Clone_based_ensembl_gene ENSG00000203863 12 13 52.00 54 0 0.00 ENSG00000203876 0 genome.wustl.edu 37 10 111702545 111702545 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 111702545 111702545 C A SNP ENSG00000203876 ENST00000369657 human ensembl 70_37 -1 known missense c.194 p.G65V 0.000 NULL NULL - no_errors RP11-451M19.3 Clone_based_vega_gene ENSG00000203876 25 29 53.70 68 0 0.00 ENSG00000203900 0 genome.wustl.edu 37 20 61999205 61999205 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61999205 61999205 G C SNP ENSG00000203900 ENST00000370257 human ensembl 70_37 +1 known rna NULL NULL 0.849 - - - no_errors RP11-261N11.8 Clone_based_vega_gene ENSG00000203900 88 18 16.67 56 0 0.00 ENSG00000203951 0 genome.wustl.edu 37 20 60808149 60808149 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 60808149 60808149 G C SNP ENSG00000203951 ENST00000370795 human ensembl 70_37 +1 known missense c.259 p.E87Q 0.141 NULL NULL - no_errors FLJ44790 Uniprot_genename ENSG00000203951 57 19 25.00 50 0 0.00 ENSG00000203971 0 genome.wustl.edu 37 20 56533974 56533974 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 56533974 56533974 G A SNP ENSG00000203971 ENST00000371169 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-379L11.2 Clone_based_vega_gene ENSG00000203971 25 12 32.43 42 0 0.00 ENSG00000204038 0 genome.wustl.edu 37 10 82013302 82013302 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 82013302 82013302 G T SNP ENSG00000204038 ENST00000356374 human ensembl 70_37 +1 known missense c.820 p.V274L 0.000 NULL NULL - no_errors AL359195.1 Clone_based_ensembl_gene ENSG00000204038 42 17 28.81 60 0 0.00 ENSG00000204055 0 genome.wustl.edu 37 9 131971882 131971882 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 131971882 131971882 G T SNP ENSG00000204055 ENST00000372490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-247A12.2 Clone_based_vega_gene ENSG00000204055 37 5 11.90 25 0 0.00 ENSG00000204620 0 genome.wustl.edu 37 X 48433150 48433150 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48433150 48433150 G C SNP ENSG00000204620 ENST00000376775 human ensembl 70_37 -1 known silent c.99 p.L33 0.000 NULL NULL - no_errors AC115618.1 Clone_based_ensembl_gene ENSG00000204620 48 36 42.86 115 0 0.00 ENSG00000204620 0 genome.wustl.edu 37 X 48433156 48433156 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48433156 48433156 G C SNP ENSG00000204620 ENST00000376775 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 NULL NULL - no_errors AC115618.1 Clone_based_ensembl_gene ENSG00000204620 67 19 22.09 71 0 0.00 ENSG00000204929 0 genome.wustl.edu 37 2 65919065 65919065 + RNA SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 65919065 65919065 T A SNP ENSG00000204929 ENST00000377977 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC074391.1 Clone_based_vega_gene ENSG00000204929 29 19 39.58 73 0 0.00 ENSG00000204990 0 genome.wustl.edu 37 7 141116156 141116156 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 141116156 141116156 G A SNP ENSG00000204990 ENST00000461145 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-842K16.1 Clone_based_vega_gene ENSG00000204990 54 16 22.86 32 0 0.00 ENSG00000205018 0 genome.wustl.edu 37 16 89016744 89016744 + Missense_Mutation SNP G G C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 89016744 89016744 G C SNP ENSG00000205018 ENST00000378347 human ensembl 70_37 +1 putative missense c.218 p.R73P 0.364 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 64 8 11.11 64 0 0.00 ENSG00000205106 0 genome.wustl.edu 37 11 45793181 45793181 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 45793181 45793181 G A SNP ENSG00000205106 ENST00000378779 human ensembl 70_37 +1 putative missense c.46 p.E16K 0.003 NULL NULL - no_errors CTD-2210P24.4 Clone_based_vega_gene ENSG00000205106 13 17 56.67 33 0 0.00 ENSG00000205148 0 genome.wustl.edu 37 15 96831368 96831368 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 96831368 96831368 G A SNP ENSG00000205148 ENST00000378936 human ensembl 70_37 -1 known missense c.293 p.S98F 0.000 NULL NULL - no_errors AC016251.1 Clone_based_ensembl_gene ENSG00000205148 12 6 33.33 29 0 0.00 ENSG00000205233 0 genome.wustl.edu 37 7 102313428 102313428 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 7 102313428 102313428 G A SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.381 p.P127 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 45 7 13.46 64 0 0.00 ENSG00000205233 0 genome.wustl.edu 37 7 102313438 102313438 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102313438 102313438 G C SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known missense c.371 p.T124S 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 30 6 16.67 27 0 0.00 ENSG00000205233 0 genome.wustl.edu 37 7 102313440 102313440 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 102313440 102313440 C G SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known missense c.369 p.E123D 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 24 14 36.84 29 0 0.00 ENSG00000205233 0 genome.wustl.edu 37 7 102313440 102313440 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 102313440 102313440 C T SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.369 p.E123 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 19 7 26.92 27 0 0.00 ENSG00000205233 0 genome.wustl.edu 37 7 102318995 102318995 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 102318995 102318995 C T SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.309 p.L103 0.011 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 152 19 11.11 238 1 0.41 ENSG00000205233 0 genome.wustl.edu 37 7 102319054 102319054 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 102319054 102319054 G A SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known nonsense c.250 p.Q84* 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205233 81 15 15.62 94 0 0.00 ENSG00000205266 0 genome.wustl.edu 37 17 18319135 18319135 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 18319135 18319135 C A SNP ENSG00000205266 ENST00000445433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AL353997.3 Clone_based_vega_gene ENSG00000205266 33 4 10.26 38 0 0.00 ENSG00000205266 0 genome.wustl.edu 37 17 18326186 18326186 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 18326186 18326186 G C SNP ENSG00000205266 ENST00000444070 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AL353997.3 Clone_based_vega_gene ENSG00000205266 11 4 25.00 11 0 0.00 ENSG00000205293 0 genome.wustl.edu 37 8 58893474 58893474 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 58893474 58893474 C G SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000205293 61 15 19.74 42 0 0.00 ENSG00000205293 0 genome.wustl.edu 37 8 58893555 58893555 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 58893555 58893555 C G SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.782 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000205293 38 16 29.63 59 0 0.00 ENSG00000205293 0 genome.wustl.edu 37 8 58894939 58894939 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 58894939 58894939 A T SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000205293 37 31 45.59 36 0 0.00 ENSG00000205312 0 genome.wustl.edu 37 17 16754841 16754841 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 16754841 16754841 G A SNP ENSG00000205312 ENST00000579363 human ensembl 70_37 -1 putative rna NULL NULL 0.016 - - - no_errors AC022596.2 Clone_based_vega_gene ENSG00000205312 11 7 38.89 12 0 0.00 ENSG00000205312 0 genome.wustl.edu 37 17 16755071 16755071 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 16755071 16755071 C G SNP ENSG00000205312 ENST00000579946 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.2 Clone_based_vega_gene ENSG00000205312 54 32 37.21 95 0 0.00 ENSG00000205500 0 genome.wustl.edu 37 2 27235801 27235801 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27235801 27235801 A C SNP ENSG00000205500 ENST00000380387 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC013472.3 Clone_based_vega_gene ENSG00000205500 17 11 39.29 38 0 0.00 ENSG00000205664 0 genome.wustl.edu 37 X 3747140 3747140 + RNA SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 3747140 3747140 G T SNP ENSG00000205664 ENST00000483918 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-706O15.1 Clone_based_vega_gene ENSG00000205664 70 47 40.17 197 0 0.00 ENSG00000205664 0 genome.wustl.edu 37 X 3761463 3761463 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 3761463 3761463 C G SNP ENSG00000205664 ENST00000425492 human ensembl 70_37 -1 known missense c.61 p.E21Q 0.007 NULL NULL - no_errors RP11-706O15.1 Clone_based_vega_gene ENSG00000205664 12 4 25.00 19 0 0.00 ENSG00000205740 0 genome.wustl.edu 37 10 1018611 1018611 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1018611 1018611 A G SNP ENSG00000205740 ENST00000381466 human ensembl 70_37 -1 known silent c.261 p.H87 0.000 NULL NULL - no_errors AL359878.1 Clone_based_ensembl_gene ENSG00000205740 27 4 12.90 35 0 0.00 ENSG00000205745 0 genome.wustl.edu 37 7 36124283 36124283 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36124283 36124283 G A SNP ENSG00000205745 ENST00000381493 human ensembl 70_37 +1 novel silent c.285 p.S95 0.000 NULL NULL - no_errors PP13004 Uniprot_genename ENSG00000205745 24 7 22.58 26 0 0.00 ENSG00000205745 0 genome.wustl.edu 37 7 36124284 36124284 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36124284 36124284 G C SNP ENSG00000205745 ENST00000381493 human ensembl 70_37 +1 novel missense c.286 p.E96Q 0.001 NULL NULL - no_errors PP13004 Uniprot_genename ENSG00000205745 24 7 22.58 25 0 0.00 ENSG00000205790 0 genome.wustl.edu 37 19 4684487 4684487 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4684487 4684487 G C SNP ENSG00000205790 ENST00000381796 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 1 11 91.67 23 0 0.00 ENSG00000205790 0 genome.wustl.edu 37 19 4684637 4684637 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4684637 4684637 G C SNP ENSG00000205790 ENST00000381796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 12 29 70.73 72 0 0.00 ENSG00000205830 0 genome.wustl.edu 37 4 27209444 27209444 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 27209444 27209444 A C SNP ENSG00000205830 ENST00000382007 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205830 71 26 26.80 131 0 0.00 ENSG00000205830 0 genome.wustl.edu 37 4 27209653 27209654 + RNA DEL GT GT - TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 4 27209653 27209654 GT - DEL ENSG00000205830 ENST00000382007 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205830 20 4 16.67 25 0 0.00 ENSG00000205830 0 genome.wustl.edu 37 4 27209653 27209654 + RNA DEL GT GT - TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 27209653 27209654 GT - DEL ENSG00000205830 ENST00000382007 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000205830 16 4 20.00 23 0 0.00 ENSG00000205971 0 genome.wustl.edu 37 7 1733361 1733361 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1733361 1733361 G A SNP ENSG00000205971 ENST00000382528 human ensembl 70_37 -1 putative silent c.171 p.S57 0.003 NULL NULL - no_errors AC074389.6 Clone_based_vega_gene ENSG00000205971 26 8 23.53 46 0 0.00 ENSG00000206028 0 genome.wustl.edu 37 22 27068213 27068213 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 27068213 27068213 C T SNP ENSG00000206028 ENST00000382641 human ensembl 70_37 -1 known rna NULL NULL 0.061 - - - no_errors CTA-373H7.7 Clone_based_vega_gene ENSG00000206028 56 23 29.11 77 0 0.00 ENSG00000206113 0 genome.wustl.edu 37 4 2428664 2428664 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 2428664 2428664 C T SNP ENSG00000206113 ENST00000382849 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 73 18 19.78 58 0 0.00 ENSG00000206113 0 genome.wustl.edu 37 4 2429035 2429035 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 2429035 2429035 C G SNP ENSG00000206113 ENST00000382849 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 52 27 34.18 56 0 0.00 ENSG00000206195 0 genome.wustl.edu 37 22 16149692 16149692 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 16149692 16149692 G T SNP ENSG00000206195 ENST00000447898 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors AP000525.8 Clone_based_vega_gene ENSG00000206195 9 6 40.00 12 0 0.00 ENSG00000206195 0 genome.wustl.edu 37 22 16151010 16151010 + RNA SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 22 16151010 16151010 T C SNP ENSG00000206195 ENST00000413768 human ensembl 70_37 -1 known rna NULL NULL 0.448 - - - no_errors AP000525.8 Clone_based_vega_gene ENSG00000206195 4 3 42.86 9 0 0.00 ENSG00000206532 0 genome.wustl.edu 37 3 110611266 110611266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 110611266 110611266 G C SNP ENSG00000206532 ENST00000383686 human ensembl 70_37 -1 known missense c.410 p.S137C 0.911 NULL NULL - no_errors RP11-553A10.1 Clone_based_vega_gene ENSG00000206532 28 9 24.32 16 0 0.00 ENSG00000206567 0 genome.wustl.edu 37 3 10048528 10048528 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 10048528 10048528 G A SNP ENSG00000206567 ENST00000383808 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 12 8 38.10 20 0 0.00 ENSG00000206567 0 genome.wustl.edu 37 3 10050047 10050047 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 10050047 10050047 G A SNP ENSG00000206567 ENST00000426698 human ensembl 70_37 -1 known rna NULL NULL 0.143 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 43 10 18.87 73 0 0.00 ENSG00000206595 0 genome.wustl.edu 37 1 51848045 51848045 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 51848045 51848045 T C SNP ENSG00000206595 ENST00000383868 human ensembl 70_37 +1 novel rna NULL NULL 0.028 - - - no_errors U6 RFAM ENSG00000206595 30 37 55.22 47 0 0.00 ENSG00000206603 0 genome.wustl.edu 37 7 56123141 56123141 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 56123141 56123141 C G SNP ENSG00000206603 ENST00000383876 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA22 RFAM ENSG00000206603 46 10 17.86 107 0 0.00 ENSG00000206700 0 genome.wustl.edu 37 1 48809985 48809985 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 48809985 48809985 T C SNP ENSG00000206700 ENST00000383973 human ensembl 70_37 +1 novel rna NULL NULL 0.122 - - - no_errors U6 RFAM ENSG00000206700 9 4 30.77 42 0 0.00 ENSG00000206744 0 genome.wustl.edu 37 5 82999311 82999311 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 82999311 82999311 A G SNP ENSG00000206744 ENST00000384017 human ensembl 70_37 +1 novel rna NULL NULL 0.277 - - - no_errors U6 RFAM ENSG00000206744 3 28 90.32 38 0 0.00 ENSG00000206780 0 genome.wustl.edu 37 4 17322423 17322423 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 17322423 17322423 C T SNP ENSG00000206780 ENST00000384053 human ensembl 70_37 -1 novel rna NULL NULL 0.006 - - - no_errors SNORA75 RFAM ENSG00000206780 29 6 17.14 36 0 0.00 ENSG00000206845 0 genome.wustl.edu 37 5 164362180 164362180 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 5 164362180 164362180 C T SNP ENSG00000206845 ENST00000384118 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors U6 RFAM ENSG00000206845 25 27 51.92 22 0 0.00 ENSG00000206909 0 genome.wustl.edu 37 5 170793156 170793156 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 170793156 170793156 C T SNP ENSG00000206909 ENST00000384182 human ensembl 70_37 +1 novel rna NULL NULL 0.998 - - - no_errors SNORA70 RFAM ENSG00000206909 24 13 35.14 48 0 0.00 ENSG00000207130 0 genome.wustl.edu 37 3 128433441 128433441 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 128433441 128433441 G A SNP ENSG00000207130 ENST00000384401 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors SNORA24 RFAM ENSG00000207130 30 5 14.29 44 0 0.00 ENSG00000207130 0 genome.wustl.edu 37 3 128433492 128433492 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128433492 128433492 C G SNP ENSG00000207130 ENST00000384401 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors SNORA24 RFAM ENSG00000207130 21 7 25.00 21 0 0.00 ENSG00000207207 0 genome.wustl.edu 37 2 85661740 85661741 + RNA INS - - A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 85661740 85661741 - A INS ENSG00000207207 ENST00000384478 human ensembl 70_37 +1 novel rna NULL NULL 0.003:0.006 - - - no_errors Y_RNA RFAM ENSG00000207207 17 4 19.05 12 0 0.00 ENSG00000207320 0 genome.wustl.edu 37 X 3559500 3559500 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 3559500 3559500 G A SNP ENSG00000207320 ENST00000384590 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors Y_RNA RFAM ENSG00000207320 30 21 41.18 37 0 0.00 ENSG00000207501 0 genome.wustl.edu 37 1 148241519 148241519 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 148241519 148241519 G A SNP ENSG00000207501 ENST00000384770 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors U1 RFAM ENSG00000207501 36 9 20.00 16 0 0.00 ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 23006961 23006961 C T SNP ENSG00000207834 ENST00000385099 human ensembl 70_37 +1 novel rna NULL NULL 0.759 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 5 6 54.55 8 0 0.00 ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 23006961 23006961 C T SNP ENSG00000207834 ENST00000385099 human ensembl 70_37 +1 novel rna NULL NULL 0.759 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 10 3 23.08 8 0 0.00 ENSG00000207849 0 genome.wustl.edu 37 4 136292796 136292796 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 136292796 136292796 C G SNP ENSG00000207849 ENST00000385114 human ensembl 70_37 -1 novel rna NULL NULL 0.949 - - - no_errors AC108867.1 Clone_based_ensembl_gene ENSG00000207849 27 10 27.03 36 0 0.00 ENSG00000210100 0 genome.wustl.edu 37 MT 4295 4295 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 4295 4295 A G SNP ENSG00000210100 ENST00000387365 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210100 45 5 10.00 122 1 0.81 ENSG00000210107 0 genome.wustl.edu 37 MT 4366 4366 + RNA SNP A A T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c MT 4366 4366 A T SNP ENSG00000210107 ENST00000387372 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.5 Clone_based_ensembl_gene ENSG00000210107 3 2 40.00 15 0 0.00 ENSG00000210127 0 genome.wustl.edu 37 MT 5590 5590 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 MT 5590 5590 G A SNP ENSG00000210127 ENST00000387392 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.8 Clone_based_ensembl_gene ENSG00000210127 792 185 18.94 611 0 0.00 ENSG00000210127 0 genome.wustl.edu 37 MT 5610 5610 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e MT 5610 5610 G A SNP ENSG00000210127 ENST00000387392 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.8 Clone_based_ensembl_gene ENSG00000210127 49 19 27.94 185 1 0.54 ENSG00000210135 0 genome.wustl.edu 37 MT 5703 5703 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 MT 5703 5703 G A SNP ENSG00000210135 ENST00000387400 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.9 Clone_based_ensembl_gene ENSG00000210135 92 52 36.11 184 1 0.53 ENSG00000210154 0 genome.wustl.edu 37 MT 7525 7525 + RNA SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 MT 7525 7525 T C SNP ENSG00000210154 ENST00000387419 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.13 Clone_based_ensembl_gene ENSG00000210154 185 114 38.00 466 0 0.00 ENSG00000210154 0 genome.wustl.edu 37 MT 7538 7538 + RNA SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 MT 7538 7538 T C SNP ENSG00000210154 ENST00000387419 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.13 Clone_based_ensembl_gene ENSG00000210154 263 427 61.88 154 0 0.00 ENSG00000210176 0 genome.wustl.edu 37 MT 12164 12164 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 MT 12164 12164 G A SNP ENSG00000210176 ENST00000387441 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.17 Clone_based_ensembl_gene ENSG00000210176 37 10 21.28 12 0 0.00 ENSG00000210191 0 genome.wustl.edu 37 MT 12280 12280 + RNA SNP A A G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 MT 12280 12280 A G SNP ENSG00000210191 ENST00000387456 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.19 Clone_based_ensembl_gene ENSG00000210191 65 15 18.75 210 0 0.00 ENSG00000210194 0 genome.wustl.edu 37 MT 14705 14705 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad MT 14705 14705 G A SNP ENSG00000210194 ENST00000387459 human ensembl 70_37 -1 known rna NULL NULL NULL - - - no_errors J01415.20 Clone_based_ensembl_gene ENSG00000210194 120 35 22.58 139 0 0.00 ENSG00000210195 0 genome.wustl.edu 37 MT 15908 15908 + RNA SNP T T C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 15908 15908 T C SNP ENSG00000210195 ENST00000387460 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.21 Clone_based_ensembl_gene ENSG00000210195 0 6 100.00 10 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1197 1197 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 MT 1197 1197 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 2 10 83.33 27 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1216 1216 + RNA SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 MT 1216 1216 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 1 7 87.50 13 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1342 1342 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe MT 1342 1342 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 1 2 66.67 17 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1351 1351 + RNA SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd MT 1351 1351 G T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 2 2 50.00 13 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1365 1365 + RNA SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe MT 1365 1365 A G SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 2 2 50.00 15 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1407 1407 + RNA SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db MT 1407 1407 T C SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 3 7 70.00 11 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1411 1411 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 MT 1411 1411 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 1 7 87.50 11 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1479 1479 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 MT 1479 1479 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 11 2 15.38 39 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 1572 1572 + RNA SNP A A G TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 MT 1572 1572 A G SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 0 4 100.00 20 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 824 824 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d MT 824 824 T C SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 344 1539 81.43 2233 0 0.00 ENSG00000211459 0 genome.wustl.edu 37 MT 877 877 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 MT 877 877 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 0 7 100.00 14 0 0.00 ENSG00000211495 0 genome.wustl.edu 37 X 132880836 132880836 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 132880836 132880836 C G SNP ENSG00000211495 ENST00000390161 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors AL009174.1 Clone_based_ensembl_gene ENSG00000211495 26 6 18.75 52 0 0.00 ENSG00000211518 0 genome.wustl.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 88269891 88269891 T - DEL ENSG00000211518 ENST00000390184 human ensembl 70_37 +1 novel rna NULL NULL 0.475 - - - no_errors AC006988.1 Clone_based_ensembl_gene ENSG00000211518 13 5 27.78 24 0 0.00 ENSG00000211528 0 genome.wustl.edu 37 18 13823981 13823981 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 13823981 13823981 C G SNP ENSG00000211528 ENST00000390194 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors AP001525.1 Clone_based_ensembl_gene ENSG00000211528 33 27 45.00 66 0 0.00 ENSG00000211530 0 genome.wustl.edu 37 6 72294885 72294885 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 72294885 72294885 C T SNP ENSG00000211530 ENST00000390196 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors AL354933.1 Clone_based_ensembl_gene ENSG00000211530 55 49 47.12 81 0 0.00 ENSG00000211562 0 genome.wustl.edu 37 8 48802691 48802693 + RNA DEL ATA ATA - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 48802691 48802693 ATA - DEL ENSG00000211562 ENST00000390136 human ensembl 70_37 +1 novel rna NULL NULL 0.002:0.001:0.001 - - - no_errors AC103686.1 Clone_based_ensembl_gene ENSG00000211562 24 9 27.27 10 0 0.00 ENSG00000212036 0 genome.wustl.edu 37 5 14910690 14910691 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 14910690 14910691 - T INS ENSG00000212036 ENST00000390747 human ensembl 70_37 -1 novel rna NULL NULL 0.092:0.075 - - - no_errors AC016575.1 Clone_based_ensembl_gene ENSG00000212036 39 34 46.58 25 0 0.00 ENSG00000212045 0 genome.wustl.edu 37 4 29751861 29751861 + RNA DEL A A - TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 4 29751861 29751861 A - DEL ENSG00000212045 ENST00000390756 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 25 4 13.79 46 0 0.00 ENSG00000212084 0 genome.wustl.edu 37 20 55035354 55035354 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 55035354 55035354 C T SNP ENSG00000212084 ENST00000390795 human ensembl 70_37 -1 novel rna NULL NULL 0.004 - - - no_errors AL121914.1 Clone_based_ensembl_gene ENSG00000212084 17 14 45.16 56 0 0.00 ENSG00000212104 0 genome.wustl.edu 37 3 76467129 76467129 + RNA SNP A A C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 3 76467129 76467129 A C SNP ENSG00000212104 ENST00000390815 human ensembl 70_37 -1 novel rna NULL NULL 0.283 - - - no_errors AC026877.1 Clone_based_ensembl_gene ENSG00000212104 9 4 30.77 29 0 0.00 ENSG00000212670 0 genome.wustl.edu 37 1 54570331 54570331 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 54570331 54570331 C T SNP ENSG00000212670 ENST00000391366 human ensembl 70_37 +1 known missense c.191 p.S64L 0.147 NULL NULL - no_errors AL161915.1 Clone_based_ensembl_gene ENSG00000212670 15 13 46.43 13 0 0.00 ENSG00000212768 0 genome.wustl.edu 37 15 35271839 35271839 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 35271839 35271839 G C SNP ENSG00000212768 ENST00000391457 human ensembl 70_37 +1 known missense c.66 p.Q22H 0.022 NULL NULL - no_errors AC114546.1 Clone_based_ensembl_gene ENSG00000212768 42 30 41.67 87 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64362 64362 + Silent SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 GL000212.1 64362 64362 A G SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.111 p.T37 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 62 10 13.89 80 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64653 64653 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 GL000212.1 64653 64653 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.402 p.T134 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 64 27 29.67 61 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64673 64673 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 GL000212.1 64673 64673 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.422 p.S141L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 66 44 40.00 123 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64707 64707 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 GL000212.1 64707 64707 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.456 p.T152 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 21 26 55.32 83 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64859 64859 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 GL000212.1 64859 64859 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.608 p.S203L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 69 17 19.77 99 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64937 64937 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a GL000212.1 64937 64937 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.686 p.S229L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 68 23 25.27 87 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65055 65055 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 GL000212.1 65055 65055 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.804 p.P268 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 50 9 15.25 65 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65087 65087 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 GL000212.1 65087 65087 G T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.836 p.R279M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 83 34 29.06 87 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65229 65229 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb GL000212.1 65229 65229 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.978 p.S326 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 36 13 26.53 54 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65483 65483 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a GL000212.1 65483 65483 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.1232 p.T411M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 22 10 31.25 43 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65793 65793 + Silent SNP T T A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65793 65793 T A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.1542 p.A514 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 16 12 41.38 55 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65807 65807 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65807 65807 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.1556 p.T519M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 23 8 25.81 59 0 0.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65811 65811 + Silent SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65811 65811 C G SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.1560 p.P520 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 19 13 40.62 61 0 0.00 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117544 117544 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 GL000205.1 117544 117544 G C SNP ENSG00000212884 ENST00000391571 human ensembl 70_37 +1 known missense c.175 p.V59L NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 66 9 12.00 65 0 0.00 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117582 117582 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b GL000205.1 117582 117582 C T SNP ENSG00000212884 ENST00000391571 human ensembl 70_37 +1 known silent c.213 p.A71 NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 25 6 18.18 51 0 0.00 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117666 117666 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 GL000205.1 117666 117666 G C SNP ENSG00000212884 ENST00000391571 human ensembl 70_37 +1 known missense c.297 p.Q99H NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 52 8 13.33 73 0 0.00 ENSG00000212939 0 genome.wustl.edu 37 22 49947424 49947424 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 49947424 49947424 G A SNP ENSG00000212939 ENST00000391625 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-29C18.10 Clone_based_vega_gene ENSG00000212939 33 16 32.65 37 0 0.00 ENSG00000213109 0 genome.wustl.edu 37 6 137222245 137222245 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 137222245 137222245 C T SNP ENSG00000213109 ENST00000574864 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-55K22.2 Clone_based_vega_gene ENSG00000213109 5 7 58.33 9 0 0.00 ENSG00000213132 0 genome.wustl.edu 37 3 187897332 187897332 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 187897332 187897332 C A SNP ENSG00000213132 ENST00000392468 human ensembl 70_37 +1 known missense c.361 p.H121N 0.004 NULL NULL - no_errors AC022498.1 Clone_based_ensembl_gene ENSG00000213132 101 13 11.40 34 0 0.00 ENSG00000213225 0 genome.wustl.edu 37 2 130989289 130989289 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130989289 130989289 G C SNP ENSG00000213225 ENST00000450578 human ensembl 70_37 +1 known rna NULL NULL 0.796 - - - no_errors AC018804.7 Clone_based_vega_gene ENSG00000213225 40 21 34.43 35 0 0.00 ENSG00000213228 0 genome.wustl.edu 37 17 58511801 58511801 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 58511801 58511801 C T SNP ENSG00000213228 ENST00000588627 human ensembl 70_37 -1 known rna NULL NULL 0.175 - - - no_errors RP11-371B4.2 Clone_based_vega_gene ENSG00000213228 7 4 36.36 9 0 0.00 ENSG00000213279 0 genome.wustl.edu 37 22 49966751 49966751 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 49966751 49966751 G C SNP ENSG00000213279 ENST00000393264 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-29C18.9 Clone_based_vega_gene ENSG00000213279 15 7 31.82 19 0 0.00 ENSG00000213492 0 genome.wustl.edu 37 4 118496561 118496561 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 118496561 118496561 C T SNP ENSG00000213492 ENST00000441170 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC092661.2 Clone_based_vega_gene ENSG00000213492 22 15 40.54 31 0 0.00 ENSG00000213492 0 genome.wustl.edu 37 4 118496714 118496714 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 118496714 118496714 C A SNP ENSG00000213492 ENST00000441170 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC092661.2 Clone_based_vega_gene ENSG00000213492 13 11 45.83 12 0 0.00 ENSG00000213742 0 genome.wustl.edu 37 20 25657765 25657765 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 25657765 25657765 C G SNP ENSG00000213742 ENST00000414393 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP4-694B14.5 Clone_based_vega_gene ENSG00000213742 6 4 40.00 10 0 0.00 ENSG00000213777 0 genome.wustl.edu 37 19 54007225 54007225 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 54007225 54007225 C T SNP ENSG00000213777 ENST00000597004 human ensembl 70_37 +1 known rna NULL NULL 0.844 - - - no_errors CTD-2224J9.8 Clone_based_vega_gene ENSG00000213777 17 6 26.09 26 0 0.00 ENSG00000213777 0 genome.wustl.edu 37 19 54007225 54007225 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 54007225 54007225 C T SNP ENSG00000213777 ENST00000597004 human ensembl 70_37 +1 known rna NULL NULL 0.844 - - - no_errors CTD-2224J9.8 Clone_based_vega_gene ENSG00000213777 12 9 42.86 9 0 0.00 ENSG00000213793 0 genome.wustl.edu 37 19 53421114 53421114 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53421114 53421114 G C SNP ENSG00000213793 ENST00000454258 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors CTD-2331H12.6 Clone_based_vega_gene ENSG00000213793 250 52 17.16 220 0 0.00 ENSG00000214043 0 genome.wustl.edu 37 12 126942643 126942643 + RNA SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 12 126942643 126942643 C T SNP ENSG00000214043 ENST00000397346 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 11 3 21.43 17 0 0.00 ENSG00000214043 0 genome.wustl.edu 37 12 126947287 126947287 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 126947287 126947287 C T SNP ENSG00000214043 ENST00000397346 human ensembl 70_37 +1 known rna NULL NULL 0.199 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 76 14 15.38 63 0 0.00 ENSG00000214184 0 genome.wustl.edu 37 2 109150518 109150518 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 109150518 109150518 G A SNP ENSG00000214184 ENST00000322353 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214184 8 11 57.89 25 0 0.00 ENSG00000214248 0 genome.wustl.edu 37 19 7964601 7964601 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7964601 7964601 C G SNP ENSG00000214248 ENST00000539278 human ensembl 70_37 -1 known missense c.666 p.L222F 1.000 NULL NULL - no_errors AC010336.1 Clone_based_ensembl_gene ENSG00000214248 7 11 61.11 28 0 0.00 ENSG00000214347 0 genome.wustl.edu 37 19 6400122 6400122 + RNA SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 6400122 6400122 A G SNP ENSG00000214347 ENST00000398173 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-180A7.8 Clone_based_vega_gene ENSG00000214347 22 10 31.25 40 0 0.00 ENSG00000214347 0 genome.wustl.edu 37 19 6400163 6400163 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 6400163 6400163 G A SNP ENSG00000214347 ENST00000398173 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CTB-180A7.8 Clone_based_vega_gene ENSG00000214347 60 12 16.67 79 0 0.00 ENSG00000214347 0 genome.wustl.edu 37 19 6400228 6400228 + RNA SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 19 6400228 6400228 G T SNP ENSG00000214347 ENST00000398173 human ensembl 70_37 +1 known rna NULL NULL 0.072 - - - no_errors CTB-180A7.8 Clone_based_vega_gene ENSG00000214347 60 47 43.93 98 0 0.00 ENSG00000214432 0 genome.wustl.edu 37 15 91578166 91578166 + RNA SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 91578166 91578166 C T SNP ENSG00000214432 ENST00000557804 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC068831.10 Clone_based_vega_gene ENSG00000214432 45 17 27.42 36 0 0.00 ENSG00000214432 0 genome.wustl.edu 37 15 91579217 91579217 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91579217 91579217 C G SNP ENSG00000214432 ENST00000557804 human ensembl 70_37 +1 known rna NULL NULL 0.056 - - - no_errors AC068831.10 Clone_based_vega_gene ENSG00000214432 25 15 37.50 43 0 0.00 ENSG00000214546 0 genome.wustl.edu 37 17 37778472 37778472 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 37778472 37778472 G C SNP ENSG00000214546 ENST00000398554 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC087491.2 Clone_based_vega_gene ENSG00000214546 30 22 42.31 49 0 0.00 ENSG00000214559 0 genome.wustl.edu 37 4 99182769 99182769 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 99182769 99182769 C T SNP ENSG00000214559 ENST00000356499 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RP11-323J4.1 Clone_based_vega_gene ENSG00000214559 59 24 28.92 105 0 0.00 ENSG00000214581 0 genome.wustl.edu 37 16 34681520 34681520 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 34681520 34681520 C A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 21 13 38.24 57 0 0.00 ENSG00000214581 0 genome.wustl.edu 37 16 34681533 34681533 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 34681533 34681533 G A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 43 13 23.21 78 0 0.00 ENSG00000214581 0 genome.wustl.edu 37 16 34682098 34682098 + RNA SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 34682098 34682098 G C SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 27 20 42.55 42 0 0.00 ENSG00000214581 0 genome.wustl.edu 37 16 34682135 34682135 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 34682135 34682135 G A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 25 9 26.47 45 0 0.00 ENSG00000214581 0 genome.wustl.edu 37 16 34682280 34682280 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 34682280 34682280 C T SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 33 24 42.11 56 0 0.00 ENSG00000214614 0 genome.wustl.edu 37 16 32896538 32896538 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 32896538 32896538 G A SNP ENSG00000214614 ENST00000566260 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-989E6.3 Clone_based_vega_gene ENSG00000214614 26 13 33.33 60 0 0.00 ENSG00000214652 0 genome.wustl.edu 37 7 63505960 63505960 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 63505960 63505960 G A SNP ENSG00000214652 ENST00000445978 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-3N2.13 Clone_based_vega_gene ENSG00000214652 64 16 20.00 109 0 0.00 ENSG00000214719 0 genome.wustl.edu 37 17 28960193 28960193 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28960193 28960193 C A SNP ENSG00000214719 ENST00000398849 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 52 35 40.23 128 0 0.00 ENSG00000214719 0 genome.wustl.edu 37 17 28961213 28961213 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 28961213 28961213 G C SNP ENSG00000214719 ENST00000398849 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 39 29 42.65 66 0 0.00 ENSG00000214776 0 genome.wustl.edu 37 12 9713515 9713515 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 9713515 9713515 G T SNP ENSG00000214776 ENST00000520314 human ensembl 70_37 +1 known rna NULL NULL 0.948 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 53 17 24.29 118 0 0.00 ENSG00000214776 0 genome.wustl.edu 37 12 9720633 9720633 + RNA SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 9720633 9720633 G T SNP ENSG00000214776 ENST00000520314 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 26 11 29.73 20 0 0.00 ENSG00000214776 0 genome.wustl.edu 37 12 9723469 9723469 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 9723469 9723469 A G SNP ENSG00000214776 ENST00000520314 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 33 5 13.16 43 0 0.00 ENSG00000214796 0 genome.wustl.edu 37 1 202828216 202828216 + RNA SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 202828216 202828216 G A SNP ENSG00000214796 ENST00000430114 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-480I12.5 Clone_based_vega_gene ENSG00000214796 24 4 14.29 8 0 0.00 ENSG00000214797 0 genome.wustl.edu 37 11 59038010 59038011 + RNA INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 59038010 59038011 - A INS ENSG00000214797 ENST00000399003 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.000 - - - no_errors RP11-1036E20.9 Clone_based_vega_gene ENSG00000214797 6 2 25.00 14 0 0.00 ENSG00000214888 0 genome.wustl.edu 37 9 90473998 90473998 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 90473998 90473998 G A SNP ENSG00000214888 ENST00000399186 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors XXyac-YM21GA2.7 Clone_based_vega_gene ENSG00000214888 37 6 13.95 49 0 0.00 ENSG00000214955 0 genome.wustl.edu 37 21 35697304 35697304 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 21 35697304 35697304 G A SNP ENSG00000214955 ENST00000427022 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors AP000318.2 Clone_based_vega_gene ENSG00000214955 41 6 12.77 34 0 0.00 ENSG00000214970 0 genome.wustl.edu 37 17 10440966 10440966 + Splice_Site SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 10440966 10440966 G A SNP ENSG00000214970 ENST00000399342 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors CTC-297N7.7 Clone_based_vega_gene ENSG00000214970 96 14 12.73 117 0 0.00 ENSG00000215023 0 genome.wustl.edu 37 2 242741105 242741105 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 242741105 242741105 C T SNP ENSG00000215023 ENST00000437438 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC114730.5 Clone_based_vega_gene ENSG00000215023 15 7 31.82 11 0 0.00 ENSG00000215158 0 genome.wustl.edu 37 5 34175616 34175616 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 34175616 34175616 G A SNP ENSG00000215158 ENST00000514048 human ensembl 70_37 -1 known rna NULL NULL 0.123 - - - no_errors RP11-1023L17.1 Clone_based_vega_gene ENSG00000215158 12 9 42.86 13 0 0.00 ENSG00000215231 0 genome.wustl.edu 37 5 5034588 5034588 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 5034588 5034588 G A SNP ENSG00000215231 ENST00000508201 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTD-2247C11.3 Clone_based_vega_gene ENSG00000215231 86 23 21.10 60 0 0.00 ENSG00000215304 0 genome.wustl.edu 37 15 32716848 32716848 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 32716848 32716848 G C SNP ENSG00000215304 ENST00000321578 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-395E19.3 Clone_based_vega_gene ENSG00000215304 43 12 21.43 37 0 0.00 ENSG00000215304 0 genome.wustl.edu 37 15 32720492 32720492 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 32720492 32720492 G C SNP ENSG00000215304 ENST00000562108 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-395E19.3 Clone_based_vega_gene ENSG00000215304 10 9 47.37 13 0 0.00 ENSG00000215452 0 genome.wustl.edu 37 20 45085177 45085177 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45085177 45085177 G T SNP ENSG00000215452 ENST00000400371 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors RP5-981L23.1 Clone_based_vega_gene ENSG00000215452 15 4 21.05 18 0 0.00 ENSG00000215494 0 genome.wustl.edu 37 21 43315042 43315042 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 21 43315042 43315042 G T SNP ENSG00000215494 ENST00000400449 human ensembl 70_37 -1 known missense c.107 p.T36N 0.000 NULL NULL - no_errors AP001619.1 Clone_based_ensembl_gene ENSG00000215494 29 4 12.12 28 0 0.00 ENSG00000215749 0 genome.wustl.edu 37 15 82934851 82934851 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 82934851 82934851 T C SNP ENSG00000215749 ENST00000426571 human ensembl 70_37 -1 known silent c.687 p.L229 0.799 NULL NULL - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 40 10 20.00 23 0 0.00 ENSG00000215749 0 genome.wustl.edu 37 15 82934883 82934883 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 82934883 82934883 C T SNP ENSG00000215749 ENST00000559949 human ensembl 70_37 -1 putative missense c.697 p.E233K 0.782 NULL NULL - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 123 16 11.51 156 0 0.00 ENSG00000215866 0 genome.wustl.edu 37 1 113392570 113392570 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 113392570 113392570 C G SNP ENSG00000215866 ENST00000401018 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-426L16.8 Clone_based_vega_gene ENSG00000215866 22 8 26.67 13 0 0.00 ENSG00000215933 0 genome.wustl.edu 37 X 71372217 71372217 + RNA SNP A A G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 71372217 71372217 A G SNP ENSG00000215933 ENST00000401114 human ensembl 70_37 -1 novel rna NULL NULL 0.006 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 70 8 10.26 51 0 0.00 ENSG00000215948 0 genome.wustl.edu 37 15 97634512 97634512 + RNA SNP A A C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 97634512 97634512 A C SNP ENSG00000215948 ENST00000401129 human ensembl 70_37 -1 novel rna NULL NULL 0.132 - - - no_errors AC055873.1 Clone_based_ensembl_gene ENSG00000215948 43 32 42.67 66 0 0.00 ENSG00000215954 0 genome.wustl.edu 37 11 112118607 112118608 + RNA INS - - AC TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 112118607 112118608 - AC INS ENSG00000215954 ENST00000401135 human ensembl 70_37 +1 novel rna NULL NULL 0.058:0.053 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000215954 7 2 22.22 27 0 0.00 ENSG00000216102 0 genome.wustl.edu 37 19 9931255 9931255 + RNA SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 9931255 9931255 T C SNP ENSG00000216102 ENST00000401283 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008752.1 Clone_based_ensembl_gene ENSG00000216102 15 5 25.00 11 0 0.00 ENSG00000216125 0 genome.wustl.edu 37 5 83269617 83269617 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 83269617 83269617 A G SNP ENSG00000216125 ENST00000401306 human ensembl 70_37 -1 novel rna NULL NULL 0.007 - - - no_errors AC109496.1 Clone_based_ensembl_gene ENSG00000216125 34 20 37.04 69 0 0.00 ENSG00000216127 0 genome.wustl.edu 37 5 171866677 171866677 + RNA SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 171866677 171866677 T C SNP ENSG00000216127 ENST00000401308 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC011407.1 Clone_based_ensembl_gene ENSG00000216127 15 5 25.00 34 0 0.00 ENSG00000216154 0 genome.wustl.edu 37 4 123928797 123928797 + RNA DEL A A - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 123928797 123928797 A - DEL ENSG00000216154 ENST00000401335 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors AC109357.1 Clone_based_ensembl_gene ENSG00000216154 53 10 15.87 48 0 0.00 ENSG00000216166 0 genome.wustl.edu 37 3 183520275 183520276 + RNA INS - - TG TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 3 183520275 183520276 - TG INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 20 11 35.48 13 0 0.00 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 6 3 33.33 14 0 0.00 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 23 6 20.69 18 0 0.00 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 10 4 28.57 16 0 0.00 ENSG00000216173 0 genome.wustl.edu 37 14 99828697 99828697 + RNA SNP T T A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 99828697 99828697 T A SNP ENSG00000216173 ENST00000401354 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL132819.1 Clone_based_ensembl_gene ENSG00000216173 23 7 23.33 24 0 0.00 ENSG00000216204 0 genome.wustl.edu 37 8 56821610 56821610 + RNA SNP A A C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 56821610 56821610 A C SNP ENSG00000216204 ENST00000401385 human ensembl 70_37 +1 novel rna NULL NULL 0.020 - - - no_errors AC018607.1 Clone_based_ensembl_gene ENSG00000216204 25 11 30.56 13 0 0.00 ENSG00000217258 0 genome.wustl.edu 37 2 10594074 10594074 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 10594074 10594074 C T SNP ENSG00000217258 ENST00000404616 human ensembl 70_37 +1 known rna NULL NULL 0.942 - - - no_errors AC007249.3 Clone_based_vega_gene ENSG00000217258 49 32 39.51 38 0 0.00 ENSG00000218672 0 genome.wustl.edu 37 7 155187767 155187767 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 155187767 155187767 G C SNP ENSG00000218672 ENST00000401499 human ensembl 70_37 +1 putative missense c.219 p.W73C 0.002 NULL NULL - no_errors AC008060.7 Clone_based_vega_gene ENSG00000218672 28 11 28.21 21 0 0.00 ENSG00000218739 0 genome.wustl.edu 37 2 37428867 37428867 + Nonstop_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 37428867 37428867 G C SNP ENSG00000218739 ENST00000392061 human ensembl 70_37 +1 novel nonstop c.243 p.*81Y 0.012 NULL NULL - no_errors AC007390.5 Clone_based_vega_gene ENSG00000218739 22 58 72.50 64 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21361407 21361407 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 21361407 21361407 G A SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.1068 p.L356 0.976 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 19 23 54.76 52 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21361709 21361709 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 21361709 21361709 C T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.1370 p.S457L 0.000 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 40 13 24.53 55 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21363254 21363254 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21363254 21363254 C G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.2915 p.S972C 0.989 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 14 13 48.15 20 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21363796 21363796 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 21363796 21363796 A G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.3457 p.M1153V 0.001 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 13 5 27.78 27 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21365422 21365422 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 21365422 21365422 C A SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.5083 p.P1695T 0.000 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 35 19 35.19 18 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21365644 21365644 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21365644 21365644 C T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5305 p.L1769 0.058 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 17 18 51.43 22 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21365697 21365697 + Silent SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 21365697 21365697 T C SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5358 p.S1786 0.984 pfam_Tudor,smart_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 35 12 25.53 54 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21366001 21366001 + Nonsense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 21366001 21366001 G T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel nonsense c.5662 p.E1888* 0.002 superfamily_Staphylococal_nuclease_OB-fold pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 20 3 13.04 23 0 0.00 ENSG00000218819 0 genome.wustl.edu 37 2 21366018 21366018 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 21366018 21366018 A G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5679 p.V1893 0.977 superfamily_Staphylococal_nuclease_OB-fold pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000218819 19 8 29.63 41 0 0.00 ENSG00000219016 0 genome.wustl.edu 37 22 48940508 48940508 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 48940508 48940508 G T SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.301 p.H101N 0.000 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000219016 14 4 22.22 27 0 0.00 ENSG00000219016 0 genome.wustl.edu 37 22 48940540 48940540 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 48940540 48940540 C T SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.269 p.G90E 0.002 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000219016 31 20 39.22 50 0 0.00 ENSG00000219016 0 genome.wustl.edu 37 22 48942355 48942355 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 48942355 48942355 G C SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.41 p.S14C 0.001 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000219016 39 30 43.48 68 0 0.00 ENSG00000219492 0 genome.wustl.edu 37 4 9386118 9386118 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 9386118 9386118 G C SNP ENSG00000219492 ENST00000508324 human ensembl 70_37 -1 novel missense c.526 p.L176V 0.008 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RP11-1396O13.13 Clone_based_vega_gene ENSG00000219492 14 58 80.56 198 0 0.00 ENSG00000219665 0 genome.wustl.edu 37 19 12137825 12137825 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 12137825 12137825 C G SNP ENSG00000219665 ENST00000406892 human ensembl 70_37 +1 known rna NULL NULL 0.660 - - - no_errors CTD-2006C1.2 Clone_based_vega_gene ENSG00000219665 36 23 38.98 47 0 0.00 ENSG00000220161 0 genome.wustl.edu 37 17 18315314 18315314 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 18315314 18315314 C T SNP ENSG00000220161 ENST00000407600 human ensembl 70_37 +1 known rna NULL NULL 0.925 - - - no_errors RP1-37N7.3 Clone_based_vega_gene ENSG00000220161 70 27 27.84 58 0 0.00 ENSG00000220989 0 genome.wustl.edu 37 3 107084077 107084077 + RNA SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 3 107084077 107084077 C T SNP ENSG00000220989 ENST00000408062 human ensembl 70_37 +1 novel rna NULL NULL 0.424 - - - no_errors AC063944.1 Clone_based_ensembl_gene ENSG00000220989 13 3 18.75 29 0 0.00 ENSG00000221005 0 genome.wustl.edu 37 X 89045426 89045426 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 89045426 89045426 C A SNP ENSG00000221005 ENST00000408078 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL161723.1 Clone_based_ensembl_gene ENSG00000221005 39 8 17.02 24 0 0.00 ENSG00000221060 0 genome.wustl.edu 37 14 70270921 70270922 + RNA INS - - T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 70270921 70270922 - T INS ENSG00000221060 ENST00000408133 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 11 3 21.43 21 0 0.00 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 9 5 35.71 10 0 0.00 ENSG00000221096 0 genome.wustl.edu 37 15 59443250 59443250 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 59443250 59443250 G A SNP ENSG00000221096 ENST00000408169 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC092757.1 Clone_based_ensembl_gene ENSG00000221096 16 4 20.00 22 0 0.00 ENSG00000221104 0 genome.wustl.edu 37 12 8519351 8519351 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 8519351 8519351 G A SNP ENSG00000221104 ENST00000408177 human ensembl 70_37 +1 novel rna NULL NULL 0.347 - - - no_errors AC092865.1 Clone_based_ensembl_gene ENSG00000221104 207 70 25.27 291 0 0.00 ENSG00000221134 0 genome.wustl.edu 37 16 49713178 49713178 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 49713178 49713178 C T SNP ENSG00000221134 ENST00000408207 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors AC007339.1 Clone_based_ensembl_gene ENSG00000221134 90 44 32.84 153 0 0.00 ENSG00000221134 0 genome.wustl.edu 37 16 49713203 49713203 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 49713203 49713203 C T SNP ENSG00000221134 ENST00000408207 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC007339.1 Clone_based_ensembl_gene ENSG00000221134 35 30 46.15 114 0 0.00 ENSG00000221145 0 genome.wustl.edu 37 1 192460261 192460264 + RNA DEL TGTG TGTG - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 TGTG TGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 192460261 192460264 TGTG - DEL ENSG00000221145 ENST00000408218 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.002:0.002:0.001 - - - no_errors AL136987.1 Clone_based_ensembl_gene ENSG00000221145 46 6 11.54 81 0 0.00 ENSG00000221156 0 genome.wustl.edu 37 7 35882550 35882550 + RNA SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 35882550 35882550 A G SNP ENSG00000221156 ENST00000408229 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC007551.1 Clone_based_ensembl_gene ENSG00000221156 39 12 23.53 34 0 0.00 ENSG00000221222 0 genome.wustl.edu 37 1 87617014 87617014 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 87617014 87617014 G A SNP ENSG00000221222 ENST00000408295 human ensembl 70_37 +1 novel rna NULL NULL 0.008 - - - no_errors AL139139.1 Clone_based_ensembl_gene ENSG00000221222 30 21 41.18 60 0 0.00 ENSG00000221226 0 genome.wustl.edu 37 16 77744254 77744254 + RNA SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 77744254 77744254 G C SNP ENSG00000221226 ENST00000408299 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors AC092724.1 Clone_based_ensembl_gene ENSG00000221226 10 5 33.33 17 0 0.00 ENSG00000221244 0 genome.wustl.edu 37 5 1004310 1004310 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 1004310 1004310 G T SNP ENSG00000221244 ENST00000408317 human ensembl 70_37 +1 novel rna NULL NULL 0.034 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000221244 23 5 17.86 26 0 0.00 ENSG00000221244 0 genome.wustl.edu 37 5 1004311 1004312 + RNA DEL GT GT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 1004311 1004312 GT - DEL ENSG00000221244 ENST00000408317 human ensembl 70_37 +1 novel rna NULL NULL 0.057:0.050 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000221244 42 5 10.64 29 0 0.00 ENSG00000221259 0 genome.wustl.edu 37 12 111511845 111511846 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 12 111511845 111511846 - A INS ENSG00000221259 ENST00000408332 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002978.1 Clone_based_ensembl_gene ENSG00000221259 103 12 10.43 29 0 0.00 ENSG00000221278 0 genome.wustl.edu 37 X 14783100 14783100 + RNA SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 14783100 14783100 G C SNP ENSG00000221278 ENST00000408351 human ensembl 70_37 -1 novel rna NULL NULL 0.039 - - - no_errors AC003658.1 Clone_based_ensembl_gene ENSG00000221278 31 21 40.38 37 0 0.00 ENSG00000221281 0 genome.wustl.edu 37 6 67069361 67069362 + RNA DEL AC AC - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 67069361 67069362 AC - DEL ENSG00000221281 ENST00000408354 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002485.1 Clone_based_ensembl_gene ENSG00000221281 11 4 26.67 11 0 0.00 ENSG00000221301 0 genome.wustl.edu 37 4 4086170 4086170 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 4086170 4086170 C A SNP ENSG00000221301 ENST00000408374 human ensembl 70_37 +1 novel rna NULL NULL 0.030 - - - no_errors AC116562.1 Clone_based_ensembl_gene ENSG00000221301 63 45 41.67 143 0 0.00 ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + RNA SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 70_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000221307 81 15 15.62 66 0 0.00 ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 70_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000221307 82 10 10.75 49 0 0.00 ENSG00000221316 0 genome.wustl.edu 37 13 107773464 107773464 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 107773464 107773464 C G SNP ENSG00000221316 ENST00000408389 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL445204.1 Clone_based_ensembl_gene ENSG00000221316 35 10 22.22 32 0 0.00 ENSG00000221336 0 genome.wustl.edu 37 6 140981775 140981775 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 140981775 140981775 G C SNP ENSG00000221336 ENST00000408409 human ensembl 70_37 -1 novel rna NULL NULL 0.002 - - - no_errors AL356137.1 Clone_based_ensembl_gene ENSG00000221336 24 8 25.00 28 0 0.00 ENSG00000221398 0 genome.wustl.edu 37 21 35828429 35828429 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 35828429 35828429 G A SNP ENSG00000221398 ENST00000408471 human ensembl 70_37 -1 novel rna NULL NULL 0.017 - - - no_errors SNORA11 RFAM ENSG00000221398 5 6 54.55 9 0 0.00 ENSG00000221400 0 genome.wustl.edu 37 10 43912788 43912788 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 43912788 43912788 C G SNP ENSG00000221400 ENST00000408473 human ensembl 70_37 -1 novel rna NULL NULL 0.162 - - - no_errors U3 RFAM ENSG00000221400 39 11 22.00 23 0 0.00 ENSG00000221424 0 genome.wustl.edu 37 3 15175921 15175921 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 15175921 15175921 G T SNP ENSG00000221424 ENST00000408497 human ensembl 70_37 -1 novel rna NULL NULL 0.122 - - - no_errors AC090954.1 Clone_based_ensembl_gene ENSG00000221424 16 51 76.12 107 0 0.00 ENSG00000221424 0 genome.wustl.edu 37 3 15175921 15175921 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 15175921 15175921 G T SNP ENSG00000221424 ENST00000408497 human ensembl 70_37 -1 novel rna NULL NULL 0.122 - - - no_errors AC090954.1 Clone_based_ensembl_gene ENSG00000221424 7 18 72.00 41 0 0.00 ENSG00000221447 0 genome.wustl.edu 37 1 48086767 48086768 + RNA INS - - TCTA TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 48086767 48086768 - TCTA INS ENSG00000221447 ENST00000408520 human ensembl 70_37 -1 novel rna NULL NULL 0.002:0.000 - - - no_errors AL591415.1 Clone_based_ensembl_gene ENSG00000221447 12 4 25.00 33 0 0.00 ENSG00000221478 0 genome.wustl.edu 37 19 23369133 23369133 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 23369133 23369133 G A SNP ENSG00000221478 ENST00000408551 human ensembl 70_37 +1 novel rna NULL NULL 0.242 - - - no_errors AC092329.1 Clone_based_ensembl_gene ENSG00000221478 49 44 47.31 60 0 0.00 ENSG00000221497 0 genome.wustl.edu 37 21 17065603 17065603 + RNA SNP C C G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 21 17065603 17065603 C G SNP ENSG00000221497 ENST00000408570 human ensembl 70_37 +1 novel rna NULL NULL 0.016 - - - no_errors AL034449.1 Clone_based_ensembl_gene ENSG00000221497 24 18 42.86 15 0 0.00 ENSG00000221504 0 genome.wustl.edu 37 19 32417514 32417515 + RNA INS - - G TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 19 32417514 32417515 - G INS ENSG00000221504 ENST00000408577 human ensembl 70_37 +1 novel rna NULL NULL 0.182:0.173 - - - no_errors AC011456.1 Clone_based_ensembl_gene ENSG00000221504 5 2 28.57 8 0 0.00 ENSG00000221505 0 genome.wustl.edu 37 X 142534107 142534107 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 142534107 142534107 G A SNP ENSG00000221505 ENST00000408578 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors AL030997.1 Clone_based_ensembl_gene ENSG00000221505 100 22 18.03 87 0 0.00 ENSG00000221505 0 genome.wustl.edu 37 X 142534119 142534119 + RNA SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 142534119 142534119 A T SNP ENSG00000221505 ENST00000408578 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL030997.1 Clone_based_ensembl_gene ENSG00000221505 90 33 26.83 120 0 0.00 ENSG00000221528 0 genome.wustl.edu 37 16 27673314 27673314 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 27673314 27673314 C T SNP ENSG00000221528 ENST00000408601 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC016597.1 Clone_based_ensembl_gene ENSG00000221528 32 12 27.27 19 0 0.00 ENSG00000221559 0 genome.wustl.edu 37 6 114026116 114026117 + RNA INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 114026116 114026117 - A INS ENSG00000221559 ENST00000408632 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AL357519.1 Clone_based_ensembl_gene ENSG00000221559 15 13 46.43 51 0 0.00 ENSG00000221617 0 genome.wustl.edu 37 12 93491070 93491070 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 93491070 93491070 G A SNP ENSG00000221617 ENST00000408690 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors AC138123.1 Clone_based_ensembl_gene ENSG00000221617 30 4 11.76 34 0 0.00 ENSG00000221672 0 genome.wustl.edu 37 22 47243816 47243819 + RNA DEL GTGT GTGT - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 22 47243816 47243819 GTGT - DEL ENSG00000221672 ENST00000408745 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors Z97351.1 Clone_based_ensembl_gene ENSG00000221672 20 3 13.04 23 0 0.00 ENSG00000221734 0 genome.wustl.edu 37 9 117554505 117554508 + RNA DEL ACAC ACAC - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 117554505 117554508 ACAC - DEL ENSG00000221734 ENST00000408807 human ensembl 70_37 +1 novel rna NULL NULL 0.007:0.007:0.010:0.012 - - - no_errors AL390240.1 Clone_based_ensembl_gene ENSG00000221734 11 3 21.43 9 0 0.00 ENSG00000221741 0 genome.wustl.edu 37 5 167297560 167297561 + RNA DEL AT AT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 167297560 167297561 AT - DEL ENSG00000221741 ENST00000408814 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.001 - - - no_errors AC093304.1 Clone_based_ensembl_gene ENSG00000221741 37 5 11.90 29 0 0.00 ENSG00000221743 0 genome.wustl.edu 37 6 36108355 36108355 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 36108355 36108355 G C SNP ENSG00000221743 ENST00000408816 human ensembl 70_37 -1 novel rna NULL NULL 0.080 - - - no_errors Z95152.1 Clone_based_ensembl_gene ENSG00000221743 31 19 38.00 31 0 0.00 ENSG00000221817 0 genome.wustl.edu 37 10 75255357 75255357 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 75255357 75255357 G C SNP ENSG00000221817 ENST00000422977 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-137L10.6 Clone_based_vega_gene ENSG00000221817 38 11 22.00 19 0 0.00 ENSG00000222005 0 genome.wustl.edu 37 2 47044026 47044026 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 47044026 47044026 G A SNP ENSG00000222005 ENST00000409912 human ensembl 70_37 +1 putative silent c.63 p.V21 0.073 NULL NULL - no_errors AC016722.1 Clone_based_vega_gene ENSG00000222005 21 21 50.00 46 0 0.00 ENSG00000222022 0 genome.wustl.edu 37 2 238330215 238330215 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 238330215 238330215 T C SNP ENSG00000222022 ENST00000409162 human ensembl 70_37 -1 putative missense c.289 p.T97A 0.001 NULL NULL - no_errors AC112721.1 Clone_based_vega_gene ENSG00000222022 52 6 10.34 59 0 0.00 ENSG00000222030 0 genome.wustl.edu 37 2 59504880 59504881 + RNA DEL TG TG - TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 59504880 59504881 TG - DEL ENSG00000222030 ENST00000409590 human ensembl 70_37 +1 known rna NULL NULL 0.227:0.215 - - - no_errors AC007131.1 Clone_based_vega_gene ENSG00000222030 13 4 23.53 12 0 0.00 ENSG00000222033 0 genome.wustl.edu 37 2 171570153 171570153 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 171570153 171570153 C G SNP ENSG00000222033 ENST00000409786 human ensembl 70_37 -1 novel missense c.801 p.Q267H 0.000 NULL NULL - no_errors AC007405.2 Clone_based_vega_gene ENSG00000222033 42 14 25.00 43 0 0.00 ENSG00000222033 0 genome.wustl.edu 37 2 171570358 171570358 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 171570358 171570358 C T SNP ENSG00000222033 ENST00000409786 human ensembl 70_37 -1 novel missense c.596 p.R199Q 0.000 NULL NULL - no_errors AC007405.2 Clone_based_vega_gene ENSG00000222033 4 4 50.00 8 0 0.00 ENSG00000222042 0 genome.wustl.edu 37 21 26541865 26541865 + RNA SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 21 26541865 26541865 T C SNP ENSG00000222042 ENST00000409758 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000233.4 Clone_based_vega_gene ENSG00000222042 88 49 35.51 81 0 0.00 ENSG00000222042 0 genome.wustl.edu 37 21 26543086 26543086 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 26543086 26543086 G A SNP ENSG00000222042 ENST00000409758 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000233.4 Clone_based_vega_gene ENSG00000222042 41 14 25.00 53 0 0.00 ENSG00000222117 0 genome.wustl.edu 37 9 105057701 105057701 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 9 105057701 105057701 G A SNP ENSG00000222117 ENST00000410185 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL391867.1 Clone_based_ensembl_gene ENSG00000222117 34 8 19.05 25 0 0.00 ENSG00000222408 0 genome.wustl.edu 37 9 90359854 90359854 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 90359854 90359854 G A SNP ENSG00000222408 ENST00000410476 human ensembl 70_37 -1 novel rna NULL NULL 0.172 - - - no_errors AL160279.1 Clone_based_ensembl_gene ENSG00000222408 33 17 34.00 24 0 0.00 ENSG00000222482 0 genome.wustl.edu 37 7 99817715 99817715 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99817715 99817715 C T SNP ENSG00000222482 ENST00000410550 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC005071.1 Clone_based_ensembl_gene ENSG00000222482 82 27 24.77 119 0 0.00 ENSG00000222526 0 genome.wustl.edu 37 4 138149345 138149345 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 138149345 138149345 G A SNP ENSG00000222526 ENST00000410594 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC060835.1 Clone_based_ensembl_gene ENSG00000222526 49 20 28.99 36 0 0.00 ENSG00000222602 0 genome.wustl.edu 37 13 37302763 37302763 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 37302763 37302763 G T SNP ENSG00000222602 ENST00000410670 human ensembl 70_37 -1 novel rna NULL NULL 0.047 - - - no_errors AL136160.1 Clone_based_ensembl_gene ENSG00000222602 3 5 62.50 21 0 0.00 ENSG00000222888 0 genome.wustl.edu 37 3 53916229 53916229 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 53916229 53916229 C G SNP ENSG00000222888 ENST00000410956 human ensembl 70_37 -1 novel rna NULL NULL 0.002 - - - no_errors AC012467.1 Clone_based_ensembl_gene ENSG00000222888 12 6 33.33 20 0 0.00 ENSG00000223063 0 genome.wustl.edu 37 6 35668872 35668872 + RNA DEL G G - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 35668872 35668872 G - DEL ENSG00000223063 ENST00000411131 human ensembl 70_37 -1 novel rna NULL NULL 0.063 - - - no_errors AL157823.1 Clone_based_ensembl_gene ENSG00000223063 34 18 34.62 69 0 0.00 ENSG00000223082 0 genome.wustl.edu 37 12 40200929 40200929 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 40200929 40200929 G A SNP ENSG00000223082 ENST00000411150 human ensembl 70_37 -1 novel rna NULL NULL 0.008 - - - no_errors AC121336.1 Clone_based_ensembl_gene ENSG00000223082 60 11 15.49 60 0 0.00 ENSG00000223099 0 genome.wustl.edu 37 4 49601499 49601499 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 49601499 49601499 G T SNP ENSG00000223099 ENST00000411167 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC119751.4 Clone_based_ensembl_gene ENSG00000223099 83 31 27.19 163 0 0.00 ENSG00000223200 0 genome.wustl.edu 37 5 60853118 60853118 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 60853118 60853118 G A SNP ENSG00000223200 ENST00000411268 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008836.1 Clone_based_ensembl_gene ENSG00000223200 23 8 25.81 31 0 0.00 ENSG00000223231 0 genome.wustl.edu 37 1 84259638 84259638 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 84259638 84259638 A - DEL ENSG00000223231 ENST00000411299 human ensembl 70_37 +1 novel rna NULL NULL 0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000223231 7 2 22.22 11 0 0.00 ENSG00000223381 0 genome.wustl.edu 37 10 110598925 110598925 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 110598925 110598925 G C SNP ENSG00000223381 ENST00000421481 human ensembl 70_37 +1 known rna NULL NULL 0.060 - - - no_errors RP11-655H13.2 Clone_based_vega_gene ENSG00000223381 36 20 35.71 26 0 0.00 ENSG00000223519 0 genome.wustl.edu 37 1 246940594 246940594 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 246940594 246940594 C T SNP ENSG00000223519 ENST00000451123 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-439E19.8 Clone_based_vega_gene ENSG00000223519 76 28 26.67 76 0 0.00 ENSG00000223727 0 genome.wustl.edu 37 3 3357210 3357210 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 3357210 3357210 G T SNP ENSG00000223727 ENST00000455703 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC026188.1 Clone_based_vega_gene ENSG00000223727 29 4 12.12 30 0 0.00 ENSG00000223779 0 genome.wustl.edu 37 1 149261469 149261469 + RNA SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 149261469 149261469 T G SNP ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.930 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 44 7 13.73 39 0 0.00 ENSG00000223779 0 genome.wustl.edu 37 1 149262800 149262800 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 149262800 149262800 C G SNP ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 210 26 10.97 239 0 0.00 ENSG00000223779 0 genome.wustl.edu 37 1 149265366 149265367 + RNA INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 149265366 149265367 - T INS ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.175:0.073 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 46 13 22.03 22 0 0.00 ENSG00000223779 0 genome.wustl.edu 37 1 149265408 149265411 + RNA DEL TTTG TTTG - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 149265408 149265411 TTTG - DEL ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.054:0.053:0.077:0.148 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 9 3 25.00 18 0 0.00 ENSG00000223804 0 genome.wustl.edu 37 1 143744275 143744275 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143744275 143744275 G C SNP ENSG00000223804 ENST00000418192 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BX284650.1 Clone_based_vega_gene ENSG00000223804 138 19 12.10 143 0 0.00 ENSG00000223804 0 genome.wustl.edu 37 1 143744596 143744596 + RNA SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 143744596 143744596 C T SNP ENSG00000223804 ENST00000440862 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BX284650.1 Clone_based_vega_gene ENSG00000223804 18 6 25.00 25 0 0.00 ENSG00000223947 0 genome.wustl.edu 37 2 101611823 101611823 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 101611823 101611823 C A SNP ENSG00000223947 ENST00000452364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC016738.4 Clone_based_vega_gene ENSG00000223947 3 3 50.00 20 0 0.00 ENSG00000224066 0 genome.wustl.edu 37 1 32671248 32671248 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 32671248 32671248 C T SNP ENSG00000224066 ENST00000421616 human ensembl 70_37 -1 known rna NULL NULL 0.856 - - - no_errors RP4-622L5.7 Clone_based_vega_gene ENSG00000224066 54 7 11.48 45 0 0.00 ENSG00000224141 0 genome.wustl.edu 37 21 19933965 19933965 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 19933965 19933965 C T SNP ENSG00000224141 ENST00000355189 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AL109763.2 Clone_based_vega_gene ENSG00000224141 39 17 30.36 59 0 0.00 ENSG00000224194 0 genome.wustl.edu 37 2 15808904 15808904 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 15808904 15808904 C T SNP ENSG00000224194 ENST00000431117 human ensembl 70_37 -1 known rna NULL NULL 0.403 - - - no_errors AC008278.3 Clone_based_vega_gene ENSG00000224194 56 34 37.78 30 0 0.00 ENSG00000224215 0 genome.wustl.edu 37 10 23633008 23633008 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 23633008 23633008 G A SNP ENSG00000224215 ENST00000443224 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-371A19.2 Clone_based_vega_gene ENSG00000224215 8 5 38.46 16 0 0.00 ENSG00000224235 0 genome.wustl.edu 37 1 88371376 88371376 + RNA SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 88371376 88371376 T A SNP ENSG00000224235 ENST00000437598 human ensembl 70_37 -1 known rna NULL NULL 0.978 - - - no_errors RP5-1027O11.1 Clone_based_vega_gene ENSG00000224235 35 22 38.60 32 0 0.00 ENSG00000224271 0 genome.wustl.edu 37 22 48100490 48100490 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 48100490 48100490 C A SNP ENSG00000224271 ENST00000423737 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-191L9.4 Clone_based_vega_gene ENSG00000224271 16 3 15.79 38 0 0.00 ENSG00000224298 0 genome.wustl.edu 37 17 34415880 34415880 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34415880 34415880 C A SNP ENSG00000224298 ENST00000592728 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000224298 22 15 39.47 33 0 0.00 ENSG00000224298 0 genome.wustl.edu 37 17 34416789 34416789 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 34416789 34416789 C T SNP ENSG00000224298 ENST00000592728 human ensembl 70_37 +1 known rna NULL NULL 0.496 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000224298 18 7 28.00 30 0 0.00 ENSG00000224298 0 genome.wustl.edu 37 17 34416981 34416981 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 34416981 34416981 G A SNP ENSG00000224298 ENST00000441575 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000224298 27 24 47.06 47 0 0.00 ENSG00000224304 0 genome.wustl.edu 37 9 36334956 36334956 + RNA SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 36334956 36334956 C A SNP ENSG00000224304 ENST00000426015 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-84P7.3 Clone_based_vega_gene ENSG00000224304 13 41 75.93 45 0 0.00 ENSG00000224304 0 genome.wustl.edu 37 9 36334956 36334956 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 36334956 36334956 C T SNP ENSG00000224304 ENST00000426015 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-84P7.3 Clone_based_vega_gene ENSG00000224304 64 22 25.58 60 0 0.00 ENSG00000224459 0 genome.wustl.edu 37 1 16076186 16076186 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 16076186 16076186 A G SNP ENSG00000224459 ENST00000418525 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-169K16.4 Clone_based_vega_gene ENSG00000224459 34 19 35.85 29 0 0.00 ENSG00000224477 0 genome.wustl.edu 37 6 161121592 161121592 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 161121592 161121592 G C SNP ENSG00000224477 ENST00000447702 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP1-81D8.3 Clone_based_vega_gene ENSG00000224477 17 16 48.48 65 0 0.00 ENSG00000224505 0 genome.wustl.edu 37 17 43238875 43238875 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 43238875 43238875 G A SNP ENSG00000224505 ENST00000589950 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC002117.1 Clone_based_vega_gene ENSG00000224505 17 20 54.05 17 0 0.00 ENSG00000224541 0 genome.wustl.edu 37 21 27548016 27548016 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 27548016 27548016 G A SNP ENSG00000224541 ENST00000455275 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AP001439.2 Clone_based_vega_gene ENSG00000224541 53 25 31.65 32 0 0.00 ENSG00000224631 0 genome.wustl.edu 37 16 61089303 61089303 + RNA DEL T T - TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 16 61089303 61089303 T - DEL ENSG00000224631 ENST00000591758 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 11 2 15.38 10 0 0.00 ENSG00000224635 0 genome.wustl.edu 37 20 37044451 37044451 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 37044451 37044451 G T SNP ENSG00000224635 ENST00000422519 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-564F22.5 Clone_based_vega_gene ENSG00000224635 23 21 47.73 36 0 0.00 ENSG00000224675 0 genome.wustl.edu 37 2 155293087 155293087 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 155293087 155293087 C A SNP ENSG00000224675 ENST00000434635 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors AC009227.2 Clone_based_vega_gene ENSG00000224675 33 20 37.74 35 0 0.00 ENSG00000224675 0 genome.wustl.edu 37 2 155293269 155293269 + RNA SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 155293269 155293269 A G SNP ENSG00000224675 ENST00000434635 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009227.2 Clone_based_vega_gene ENSG00000224675 33 15 30.61 25 0 0.00 ENSG00000224713 0 genome.wustl.edu 37 12 58007421 58007421 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 58007421 58007421 G A SNP ENSG00000224713 ENST00000356672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC025165.8 Clone_based_vega_gene ENSG00000224713 24 13 35.14 38 0 0.00 ENSG00000224750 0 genome.wustl.edu 37 10 92290388 92290388 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 92290388 92290388 C A SNP ENSG00000224750 ENST00000439157 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-94M14.2 Clone_based_vega_gene ENSG00000224750 30 5 14.29 41 0 0.00 ENSG00000224788 0 genome.wustl.edu 37 10 10101345 10101345 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 10 10101345 10101345 G A SNP ENSG00000224788 ENST00000429539 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-933E2.1 Clone_based_vega_gene ENSG00000224788 1 8 88.89 22 0 0.00 ENSG00000224825 0 genome.wustl.edu 37 9 77113233 77113233 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 77113233 77113233 G A SNP ENSG00000224825 ENST00000417576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-171A24.3 Clone_based_vega_gene ENSG00000224825 36 10 21.74 33 0 0.00 ENSG00000224825 0 genome.wustl.edu 37 9 77113954 77113954 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 77113954 77113954 G T SNP ENSG00000224825 ENST00000417576 human ensembl 70_37 -1 known rna NULL NULL 0.238 - - - no_errors RP11-171A24.3 Clone_based_vega_gene ENSG00000224825 26 6 18.75 28 0 0.00 ENSG00000224870 0 genome.wustl.edu 37 1 1335601 1335601 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1335601 1335601 C T SNP ENSG00000224870 ENST00000448629 human ensembl 70_37 +1 putative nonsense c.202 p.R68* 0.000 NULL NULL - no_errors RP4-758J18.2 Clone_based_vega_gene ENSG00000224870 22 77 77.78 64 0 0.00 ENSG00000224897 0 genome.wustl.edu 37 7 124758705 124758705 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 124758705 124758705 G T SNP ENSG00000224897 ENST00000453342 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-3B12.1 Clone_based_vega_gene ENSG00000224897 46 7 13.21 29 0 0.00 ENSG00000224897 0 genome.wustl.edu 37 7 124783047 124783047 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 124783047 124783047 C A SNP ENSG00000224897 ENST00000449642 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-3B12.1 Clone_based_vega_gene ENSG00000224897 24 8 25.00 15 0 0.00 ENSG00000224905 0 genome.wustl.edu 37 21 15399745 15399745 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 15399745 15399745 C G SNP ENSG00000224905 ENST00000428809 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000224905 31 5 13.89 28 0 0.00 ENSG00000224905 0 genome.wustl.edu 37 21 15461085 15461085 + RNA DEL G G - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 15461085 15461085 G - DEL ENSG00000224905 ENST00000448463 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000224905 4 2 33.33 13 0 0.00 ENSG00000224957 0 genome.wustl.edu 37 3 791918 791918 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 791918 791918 C A SNP ENSG00000224957 ENST00000420823 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors AC090044.1 Clone_based_vega_gene ENSG00000224957 35 6 14.63 54 0 0.00 ENSG00000225057 0 genome.wustl.edu 37 2 239142249 239142249 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 239142249 239142249 C T SNP ENSG00000225057 ENST00000456601 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 36 4 10.00 45 0 0.00 ENSG00000225119 0 genome.wustl.edu 37 10 38737408 38737408 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 38737408 38737408 C G SNP ENSG00000225119 ENST00000447412 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-291L22.3 Clone_based_vega_gene ENSG00000225119 31 18 36.73 58 0 0.00 ENSG00000225119 0 genome.wustl.edu 37 10 38737434 38737434 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 38737434 38737434 C G SNP ENSG00000225119 ENST00000447412 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-291L22.3 Clone_based_vega_gene ENSG00000225119 22 15 40.54 50 0 0.00 ENSG00000225156 0 genome.wustl.edu 37 2 45193950 45193950 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 45193950 45193950 C T SNP ENSG00000225156 ENST00000425325 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012354.6 Clone_based_vega_gene ENSG00000225156 27 21 43.75 32 0 0.00 ENSG00000225166 0 genome.wustl.edu 37 2 216321685 216321685 + RNA SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 216321685 216321685 A G SNP ENSG00000225166 ENST00000447835 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012462.2 Clone_based_vega_gene ENSG00000225166 15 9 37.50 42 0 0.00 ENSG00000225243 0 genome.wustl.edu 37 1 171168640 171168640 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 171168640 171168640 C T SNP ENSG00000225243 ENST00000422841 human ensembl 70_37 -1 known rna NULL NULL 0.715 - - - no_errors RP1-127D3.4 Clone_based_vega_gene ENSG00000225243 19 13 40.62 43 0 0.00 ENSG00000225261 0 genome.wustl.edu 37 X 148629903 148629903 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 148629903 148629903 C G SNP ENSG00000225261 ENST00000431993 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors RP5-937E21.8 Clone_based_vega_gene ENSG00000225261 15 6 28.57 14 0 0.00 ENSG00000225261 0 genome.wustl.edu 37 X 148630192 148630192 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 148630192 148630192 C T SNP ENSG00000225261 ENST00000431993 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-937E21.8 Clone_based_vega_gene ENSG00000225261 27 15 35.71 24 0 0.00 ENSG00000225278 0 genome.wustl.edu 37 1 143211647 143211647 + RNA DEL T T - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 143211647 143211647 T - DEL ENSG00000225278 ENST00000437865 human ensembl 70_37 -1 known rna NULL NULL 0.128 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000225278 62 19 23.46 62 0 0.00 ENSG00000225278 0 genome.wustl.edu 37 1 143223399 143223399 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 143223399 143223399 C T SNP ENSG00000225278 ENST00000422716 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000225278 35 13 27.08 54 0 0.00 ENSG00000225278 0 genome.wustl.edu 37 1 143237000 143237000 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 143237000 143237000 A G SNP ENSG00000225278 ENST00000412196 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000225278 60 8 11.76 38 0 0.00 ENSG00000225278 0 genome.wustl.edu 37 1 143265424 143265424 + RNA SNP T T G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 143265424 143265424 T G SNP ENSG00000225278 ENST00000416367 human ensembl 70_37 -1 known rna NULL NULL 0.272 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000225278 58 7 10.77 36 0 0.00 ENSG00000225315 0 genome.wustl.edu 37 1 24390550 24390550 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 24390550 24390550 G A SNP ENSG00000225315 ENST00000439239 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-293P20.2 Clone_based_vega_gene ENSG00000225315 75 33 30.56 117 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400387 68400387 + RNA DEL C C - TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 9 68400387 68400387 C - DEL ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.103 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 4 5 55.56 8 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400407 68400407 + RNA SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 68400407 68400407 A G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 8 5 38.46 14 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 6 5 45.45 15 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 22 7 24.14 19 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 22 6 21.43 23 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400511 68400511 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 68400511 68400511 G A SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 4 5 55.56 12 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68400591 68400591 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 68400591 68400591 C T SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 3 4 57.14 9 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68401327 68401327 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 68401327 68401327 T A SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.148 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 22 5 18.52 31 0 0.00 ENSG00000225411 0 genome.wustl.edu 37 9 68401351 68401351 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 68401351 68401351 C T SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.073 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 10 12 54.55 13 0 0.00 ENSG00000225425 0 genome.wustl.edu 37 9 132677340 132677340 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132677340 132677340 C G SNP ENSG00000225425 ENST00000447586 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-409K20.8 Clone_based_vega_gene ENSG00000225425 9 5 35.71 11 0 0.00 ENSG00000225484 0 genome.wustl.edu 37 10 81564275 81564275 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 81564275 81564275 C T SNP ENSG00000225484 ENST00000419697 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP11-773D16.1 Clone_based_vega_gene ENSG00000225484 18 8 30.77 11 0 0.00 ENSG00000225488 0 genome.wustl.edu 37 7 56550040 56550040 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 56550040 56550040 G A SNP ENSG00000225488 ENST00000436042 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-760D2.1 Clone_based_vega_gene ENSG00000225488 8 4 33.33 9 0 0.00 ENSG00000225606 0 genome.wustl.edu 37 7 12610016 12610016 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 12610016 12610016 C T SNP ENSG00000225606 ENST00000433040 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005281.2 Clone_based_vega_gene ENSG00000225606 12 7 36.84 19 0 0.00 ENSG00000225606 0 genome.wustl.edu 37 7 12610243 12610243 + RNA SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 12610243 12610243 T C SNP ENSG00000225606 ENST00000433040 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005281.2 Clone_based_vega_gene ENSG00000225606 27 11 28.95 47 0 0.00 ENSG00000225721 0 genome.wustl.edu 37 1 45241245 45241246 + RNA DEL TC TC - TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 45241245 45241246 TC - DEL ENSG00000225721 ENST00000428791 human ensembl 70_37 -1 known rna NULL NULL 0.981:1.000 - - - no_errors RP11-269F19.2 Clone_based_vega_gene ENSG00000225721 87 45 34.09 79 0 0.00 ENSG00000225731 0 genome.wustl.edu 37 21 44154376 44154376 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 21 44154376 44154376 G T SNP ENSG00000225731 ENST00000437426 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001627.1 Clone_based_vega_gene ENSG00000225731 23 4 14.81 40 0 0.00 ENSG00000225745 0 genome.wustl.edu 37 21 42554159 42554159 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 21 42554159 42554159 C T SNP ENSG00000225745 ENST00000414699 human ensembl 70_37 -1 known rna NULL NULL 0.140 - - - no_errors AL773572.7 Clone_based_vega_gene ENSG00000225745 15 8 34.78 12 0 0.00 ENSG00000225760 0 genome.wustl.edu 37 13 111642339 111642339 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 111642339 111642339 C T SNP ENSG00000225760 ENST00000440735 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-365P13.3 Clone_based_vega_gene ENSG00000225760 45 10 18.18 116 0 0.00 ENSG00000225766 0 genome.wustl.edu 37 14 24517441 24517441 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 24517441 24517441 G A SNP ENSG00000225766 ENST00000558293 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 136 16 10.53 179 0 0.00 ENSG00000225782 0 genome.wustl.edu 37 1 220836011 220836011 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 220836011 220836011 T G SNP ENSG00000225782 ENST00000446040 human ensembl 70_37 -1 known rna NULL NULL 0.088 - - - no_errors RP11-322F10.2 Clone_based_vega_gene ENSG00000225782 24 16 40.00 69 0 0.00 ENSG00000225792 0 genome.wustl.edu 37 7 26412102 26412102 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 26412102 26412102 C T SNP ENSG00000225792 ENST00000451264 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004540.4 Clone_based_vega_gene ENSG00000225792 145 20 12.12 104 0 0.00 ENSG00000225872 0 genome.wustl.edu 37 19 36281675 36281675 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36281675 36281675 G A SNP ENSG00000225872 ENST00000433059 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000225872 7 11 61.11 15 0 0.00 ENSG00000225872 0 genome.wustl.edu 37 19 36283127 36283127 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36283127 36283127 G A SNP ENSG00000225872 ENST00000567313 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000225872 82 26 24.07 103 0 0.00 ENSG00000225914 0 genome.wustl.edu 37 6 32231726 32231727 + RNA INS - - T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 32231726 32231727 - T INS ENSG00000225914 ENST00000425033 human ensembl 70_37 +1 known rna NULL NULL 0.372:0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000225914 23 20 46.51 31 0 0.00 ENSG00000225914 0 genome.wustl.edu 37 6 32231726 32231727 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32231726 32231727 - T INS ENSG00000225914 ENST00000425033 human ensembl 70_37 +1 known rna NULL NULL 0.372:0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000225914 14 7 33.33 20 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608123 100608124 + RNA INS - - G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 100608123 100608124 - G INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.037 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 6 3 33.33 14 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608197 100608198 + RNA INS - - GGG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 100608197 100608198 - GGG INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 19 5 20.83 42 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608197 100608198 + RNA INS - - GGG TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 100608197 100608198 - GGG INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 21 4 16.00 25 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608201 100608201 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 100608201 100608201 C T SNP ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 29 9 23.68 16 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608385 100608386 + RNA INS - - A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 100608385 100608386 - A INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.003 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 15 2 11.76 64 0 0.00 ENSG00000226007 0 genome.wustl.edu 37 9 46844120 46844120 + RNA SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 46844120 46844120 C T SNP ENSG00000226007 ENST00000446626 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-211N8.2 Clone_based_vega_gene ENSG00000226007 10 19 65.52 31 0 0.00 ENSG00000226113 0 genome.wustl.edu 37 10 38536867 38536867 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38536867 38536867 C T SNP ENSG00000226113 ENST00000450980 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000226113 91 57 38.51 138 0 0.00 ENSG00000226113 0 genome.wustl.edu 37 10 38622073 38622073 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 38622073 38622073 G C SNP ENSG00000226113 ENST00000450980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000226113 21 12 36.36 80 0 0.00 ENSG00000226145 0 genome.wustl.edu 37 17 16722356 16722356 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 16722356 16722356 C G SNP ENSG00000226145 ENST00000417510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 52 24 31.58 75 0 0.00 ENSG00000226145 0 genome.wustl.edu 37 17 16723983 16723983 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 16723983 16723983 G A SNP ENSG00000226145 ENST00000417510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 34 29 46.03 63 0 0.00 ENSG00000226194 0 genome.wustl.edu 37 6 169774114 169774114 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 169774114 169774114 C T SNP ENSG00000226194 ENST00000440168 human ensembl 70_37 -1 known rna NULL NULL 0.055 - - - no_errors RP1-137D17.1 Clone_based_vega_gene ENSG00000226194 10 5 33.33 9 0 0.00 ENSG00000226200 0 genome.wustl.edu 37 10 52389833 52389833 + RNA SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 52389833 52389833 G C SNP ENSG00000226200 ENST00000443374 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 17 4 19.05 20 0 0.00 ENSG00000226232 0 genome.wustl.edu 37 16 70010517 70010519 + In_Frame_Del DEL TGT TGT - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 70010517 70010519 TGT - DEL ENSG00000226232 ENST00000532298 human ensembl 70_37 -1 novel in_frame_del c.761_759 p.Q253in_frame_del 0.600:0.610:0.620 pfam_NPIP pfam_NPIP - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 29 9 23.68 74 0 0.00 ENSG00000226232 0 genome.wustl.edu 37 16 70011737 70011737 + RNA SNP T T C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 70011737 70011737 T C SNP ENSG00000226232 ENST00000525562 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 14 7 33.33 15 0 0.00 ENSG00000226252 0 genome.wustl.edu 37 1 47694308 47694308 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 47694308 47694308 G T SNP ENSG00000226252 ENST00000422216 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors RP1-18D14.7 Clone_based_vega_gene ENSG00000226252 30 28 48.28 32 0 0.00 ENSG00000226376 0 genome.wustl.edu 37 9 7932139 7932139 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 7932139 7932139 C A SNP ENSG00000226376 ENST00000413066 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-29B9.1 Clone_based_vega_gene ENSG00000226376 34 4 10.53 52 0 0.00 ENSG00000226465 0 genome.wustl.edu 37 20 25733293 25733293 + RNA SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 20 25733293 25733293 C G SNP ENSG00000226465 ENST00000376445 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP13-401N8.1 Clone_based_vega_gene ENSG00000226465 91 33 26.61 108 0 0.00 ENSG00000226526 0 genome.wustl.edu 37 1 17331326 17331326 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 17331326 17331326 C T SNP ENSG00000226526 ENST00000446261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-37C10.3 Clone_based_vega_gene ENSG00000226526 9 5 35.71 22 0 0.00 ENSG00000226593 0 genome.wustl.edu 37 19 1278930 1278930 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 1278930 1278930 G A SNP ENSG00000226593 ENST00000416408 human ensembl 70_37 +1 known missense c.121 p.E41K 0.001 NULL NULL - no_errors C19ORF24 Uniprot_genename ENSG00000226593 61 17 21.79 70 0 0.00 ENSG00000226668 0 genome.wustl.edu 37 9 95644873 95644873 + RNA SNP A A T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95644873 95644873 A T SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 131 59 30.89 214 1 0.46 ENSG00000226668 0 genome.wustl.edu 37 9 95645049 95645049 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95645049 95645049 C G SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 238 114 32.29 301 0 0.00 ENSG00000226668 0 genome.wustl.edu 37 9 95646227 95646227 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 95646227 95646227 C T SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 220 85 27.87 325 1 0.31 ENSG00000226668 0 genome.wustl.edu 37 9 95647673 95647673 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95647673 95647673 C G SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.011 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 100 164 62.12 182 0 0.00 ENSG00000226668 0 genome.wustl.edu 37 9 95647734 95647734 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95647734 95647734 C T SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.011 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 93 148 61.16 149 0 0.00 ENSG00000226668 0 genome.wustl.edu 37 9 95647822 95647822 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 95647822 95647822 G C SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.075 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 98 40 28.78 105 0 0.00 ENSG00000226684 0 genome.wustl.edu 37 6 97731265 97731266 + RNA INS - - A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 97731265 97731266 - A INS ENSG00000226684 ENST00000457513 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP3-418C23.2 Clone_based_vega_gene ENSG00000226684 37 7 15.91 25 0 0.00 ENSG00000226803 0 genome.wustl.edu 37 6 57015509 57015509 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 57015509 57015509 C G SNP ENSG00000226803 ENST00000589263 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-203B9.4 Clone_based_vega_gene ENSG00000226803 31 13 29.55 32 0 0.00 ENSG00000226974 0 genome.wustl.edu 37 13 64320978 64320978 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 13 64320978 64320978 C T SNP ENSG00000226974 ENST00000453638 human ensembl 70_37 +1 known silent c.45 p.S15 0.072 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 61 11 15.28 97 0 0.00 ENSG00000227007 0 genome.wustl.edu 37 2 6514589 6514590 + RNA INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 6514589 6514590 - A INS ENSG00000227007 ENST00000448901 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.006 - - - no_errors AC105253.1 Clone_based_vega_gene ENSG00000227007 44 9 16.98 27 0 0.00 ENSG00000227038 0 genome.wustl.edu 37 7 75720936 75720936 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 75720936 75720936 C T SNP ENSG00000227038 ENST00000434037 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors AC005077.12 Clone_based_vega_gene ENSG00000227038 6 22 78.57 24 0 0.00 ENSG00000227050 0 genome.wustl.edu 37 1 28285385 28285385 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 28285385 28285385 C T SNP ENSG00000227050 ENST00000448015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-460I13.2 Clone_based_vega_gene ENSG00000227050 37 11 22.92 31 0 0.00 ENSG00000227053 0 genome.wustl.edu 37 7 100660835 100660835 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 100660835 100660835 C T SNP ENSG00000227053 ENST00000441882 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-395B7.4 Clone_based_vega_gene ENSG00000227053 10 9 47.37 17 0 0.00 ENSG00000227148 0 genome.wustl.edu 37 7 62514788 62514788 + RNA SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 62514788 62514788 C T SNP ENSG00000227148 ENST00000450891 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors RP11-196D18.1 Clone_based_vega_gene ENSG00000227148 12 10 45.45 28 0 0.00 ENSG00000227217 0 genome.wustl.edu 37 1 157665801 157665801 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 157665801 157665801 G A SNP ENSG00000227217 ENST00000453692 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-367J7.3 Clone_based_vega_gene ENSG00000227217 42 13 23.64 31 0 0.00 ENSG00000227217 0 genome.wustl.edu 37 1 157666171 157666171 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 157666171 157666171 C T SNP ENSG00000227217 ENST00000453692 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-367J7.3 Clone_based_vega_gene ENSG00000227217 74 20 21.28 65 0 0.00 ENSG00000227304 0 genome.wustl.edu 37 4 83417157 83417157 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 83417157 83417157 G C SNP ENSG00000227304 ENST00000488045 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 20 15 42.86 43 0 0.00 ENSG00000227400 0 genome.wustl.edu 37 2 154278136 154278136 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 154278136 154278136 G A SNP ENSG00000227400 ENST00000454312 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC012501.2 Clone_based_vega_gene ENSG00000227400 14 11 44.00 21 0 0.00 ENSG00000227410 0 genome.wustl.edu 37 9 71736638 71736638 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 71736638 71736638 C T SNP ENSG00000227410 ENST00000413932 human ensembl 70_37 +1 putative rna NULL NULL 0.770 - - - no_errors RP11-265B8.4 Clone_based_vega_gene ENSG00000227410 38 7 15.56 25 0 0.00 ENSG00000227463 0 genome.wustl.edu 37 9 86690633 86690634 + RNA INS - - A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 86690633 86690634 - A INS ENSG00000227463 ENST00000423515 human ensembl 70_37 +1 putative rna NULL NULL 0.009:0.009 - - - no_errors RP11-158D2.2 Clone_based_vega_gene ENSG00000227463 31 15 32.61 29 0 0.00 ENSG00000227467 0 genome.wustl.edu 37 11 72283564 72283564 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 72283564 72283564 G T SNP ENSG00000227467 ENST00000450804 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors RP11-169D4.1 Clone_based_vega_gene ENSG00000227467 30 4 11.76 38 0 0.00 ENSG00000227484 0 genome.wustl.edu 37 22 50753223 50753223 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50753223 50753223 G A SNP ENSG00000227484 ENST00000453835 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors XX-C283C717.1 Clone_based_vega_gene ENSG00000227484 44 16 26.67 65 0 0.00 ENSG00000227486 0 genome.wustl.edu 37 X 55935175 55935175 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 55935175 55935175 G A SNP ENSG00000227486 ENST00000452532 human ensembl 70_37 +1 known rna NULL NULL 0.103 - - - no_errors RP13-188A5.1 Clone_based_vega_gene ENSG00000227486 31 16 34.04 24 0 0.00 ENSG00000227492 0 genome.wustl.edu 37 10 101993189 101993189 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 101993189 101993189 C A SNP ENSG00000227492 ENST00000444359 human ensembl 70_37 +1 known rna NULL NULL 0.134 - - - no_errors RP11-316M21.6 Clone_based_vega_gene ENSG00000227492 12 6 33.33 28 0 0.00 ENSG00000227552 0 genome.wustl.edu 37 1 142557366 142557366 + RNA SNP T T C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 142557366 142557366 T C SNP ENSG00000227552 ENST00000445662 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AL583842.1 Clone_based_vega_gene ENSG00000227552 70 8 10.26 30 0 0.00 ENSG00000227552 0 genome.wustl.edu 37 1 142558868 142558868 + RNA SNP T T G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 142558868 142558868 T G SNP ENSG00000227552 ENST00000445662 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AL583842.1 Clone_based_vega_gene ENSG00000227552 16 2 11.11 55 0 0.00 ENSG00000227582 0 genome.wustl.edu 37 9 66517208 66517208 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 66517208 66517208 C T SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 160 18 10.06 208 0 0.00 ENSG00000227582 0 genome.wustl.edu 37 9 66517323 66517323 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 66517323 66517323 G A SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 109 20 15.50 110 0 0.00 ENSG00000227582 0 genome.wustl.edu 37 9 66517927 66517927 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 66517927 66517927 G A SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 381 70 15.52 370 0 0.00 ENSG00000227602 0 genome.wustl.edu 37 6 56196760 56196760 + RNA SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 56196760 56196760 A T SNP ENSG00000227602 ENST00000415663 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP3-445N2.1 Clone_based_vega_gene ENSG00000227602 11 4 26.67 45 0 0.00 ENSG00000227603 0 genome.wustl.edu 37 9 96197732 96197732 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 96197732 96197732 C A SNP ENSG00000227603 ENST00000445280 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-165J3.6 Clone_based_vega_gene ENSG00000227603 19 4 16.67 24 0 0.00 ENSG00000227677 0 genome.wustl.edu 37 9 136028893 136028893 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 136028893 136028893 C G SNP ENSG00000227677 ENST00000447308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-326L24.7 Clone_based_vega_gene ENSG00000227677 22 6 21.43 20 0 0.00 ENSG00000227775 0 genome.wustl.edu 37 1 1664089 1664089 + RNA SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 1664089 1664089 G A SNP ENSG00000227775 ENST00000424604 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP1-283E3.4 Clone_based_vega_gene ENSG00000227775 10 7 41.18 18 0 0.00 ENSG00000227781 0 genome.wustl.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 48968566 48968566 A G SNP ENSG00000227781 ENST00000438010 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors GLUDP2 Clone_based_vega_gene ENSG00000227781 26 3 10.34 31 0 0.00 ENSG00000227781 0 genome.wustl.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 48968566 48968566 A G SNP ENSG00000227781 ENST00000438010 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors GLUDP2 Clone_based_vega_gene ENSG00000227781 27 5 15.62 28 0 0.00 ENSG00000227912 0 genome.wustl.edu 37 10 2208584 2208584 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 2208584 2208584 G T SNP ENSG00000227912 ENST00000421077 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors RP11-69C17.3 Clone_based_vega_gene ENSG00000227912 24 4 14.29 33 0 0.00 ENSG00000227920 0 genome.wustl.edu 37 6 37513097 37513097 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 37513097 37513097 G C SNP ENSG00000227920 ENST00000414875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-153P14.5 Clone_based_vega_gene ENSG00000227920 31 12 27.91 34 0 0.00 ENSG00000227920 0 genome.wustl.edu 37 6 37513187 37513187 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 37513187 37513187 G C SNP ENSG00000227920 ENST00000414875 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP1-153P14.5 Clone_based_vega_gene ENSG00000227920 42 8 16.00 21 0 0.00 ENSG00000228136 0 genome.wustl.edu 37 9 42275941 42275941 + RNA SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 42275941 42275941 G A SNP ENSG00000228136 ENST00000425632 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-216M21.5 Clone_based_vega_gene ENSG00000228136 13 4 23.53 26 0 0.00 ENSG00000228157 0 genome.wustl.edu 37 17 18996538 18996538 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 18996538 18996538 G C SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known missense c.34 p.E12Q 0.000 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000228157 238 47 16.49 309 0 0.00 ENSG00000228157 0 genome.wustl.edu 37 17 18996549 18996549 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 18996549 18996549 G A SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known silent c.45 p.L15 0.000 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000228157 9 4 30.77 29 0 0.00 ENSG00000228157 0 genome.wustl.edu 37 17 18996795 18996795 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 18996795 18996795 G T SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known nonsense c.133 p.E45* 0.019 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000228157 68 37 35.24 208 0 0.00 ENSG00000228157 0 genome.wustl.edu 37 17 18996811 18996811 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 18996811 18996811 G C SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known missense c.149 p.R50P 0.001 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000228157 131 19 12.67 177 0 0.00 ENSG00000228189 0 genome.wustl.edu 37 9 91262343 91262344 + RNA INS - - TGG TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 91262343 91262344 - TGG INS ENSG00000228189 ENST00000418343 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000228189 70 9 11.39 111 0 0.00 ENSG00000228214 0 genome.wustl.edu 37 3 28616706 28616706 + RNA SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 3 28616706 28616706 G C SNP ENSG00000228214 ENST00000432518 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors AC109586.1 Clone_based_vega_gene ENSG00000228214 29 6 17.14 20 0 0.00 ENSG00000228216 0 genome.wustl.edu 37 9 93727554 93727554 + RNA SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 93727554 93727554 A T SNP ENSG00000228216 ENST00000427745 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-367F23.1 Clone_based_vega_gene ENSG00000228216 33 21 38.89 33 0 0.00 ENSG00000228246 0 genome.wustl.edu 37 7 2758276 2758276 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 2758276 2758276 G A SNP ENSG00000228246 ENST00000412266 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006028.9 Clone_based_vega_gene ENSG00000228246 38 7 15.56 58 0 0.00 ENSG00000228274 0 genome.wustl.edu 37 22 39064205 39064205 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 39064205 39064205 G C SNP ENSG00000228274 ENST00000422408 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP3-508I15.9 Clone_based_vega_gene ENSG00000228274 45 16 26.23 44 0 0.00 ENSG00000228318 0 genome.wustl.edu 37 21 42813585 42813585 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 42813585 42813585 C T SNP ENSG00000228318 ENST00000411427 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001610.5 Clone_based_vega_gene ENSG00000228318 10 7 41.18 16 0 0.00 ENSG00000228363 0 genome.wustl.edu 37 2 86790405 86790405 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 86790405 86790405 C G SNP ENSG00000228363 ENST00000597638 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC015971.2 Clone_based_vega_gene ENSG00000228363 13 15 53.57 28 0 0.00 ENSG00000228363 0 genome.wustl.edu 37 2 86790405 86790405 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 86790405 86790405 C G SNP ENSG00000228363 ENST00000597638 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC015971.2 Clone_based_vega_gene ENSG00000228363 90 114 55.88 218 0 0.00 ENSG00000228368 0 genome.wustl.edu 37 7 116607365 116607365 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 116607365 116607365 A C SNP ENSG00000228368 ENST00000420664 human ensembl 70_37 -1 putative missense c.111 p.I37M 0.002 NULL NULL - no_errors AC106873.4 Clone_based_vega_gene ENSG00000228368 65 9 12.16 108 0 0.00 ENSG00000228384 0 genome.wustl.edu 37 2 71221896 71221896 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 71221896 71221896 C T SNP ENSG00000228384 ENST00000601923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007040.6 Clone_based_vega_gene ENSG00000228384 1 6 85.71 9 0 0.00 ENSG00000228384 0 genome.wustl.edu 37 2 71221896 71221896 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 71221896 71221896 C T SNP ENSG00000228384 ENST00000601923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007040.6 Clone_based_vega_gene ENSG00000228384 37 31 45.59 12 0 0.00 ENSG00000228386 0 genome.wustl.edu 37 20 32605249 32605249 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 20 32605249 32605249 C A SNP ENSG00000228386 ENST00000451556 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP5-1125A11.4 Clone_based_vega_gene ENSG00000228386 36 4 10.00 54 0 0.00 ENSG00000228393 0 genome.wustl.edu 37 7 104653477 104653477 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 104653477 104653477 C T SNP ENSG00000228393 ENST00000450686 human ensembl 70_37 -1 known rna NULL NULL 0.893 - - - no_errors RP11-325F22.3 Clone_based_vega_gene ENSG00000228393 53 12 18.46 69 0 0.00 ENSG00000228434 0 genome.wustl.edu 37 7 44043653 44043653 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44043653 44043653 G C SNP ENSG00000228434 ENST00000447643 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors AC004951.6 Clone_based_vega_gene ENSG00000228434 54 18 25.00 47 0 0.00 ENSG00000228434 0 genome.wustl.edu 37 7 44043737 44043737 + RNA SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 7 44043737 44043737 C T SNP ENSG00000228434 ENST00000447643 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors AC004951.6 Clone_based_vega_gene ENSG00000228434 50 12 19.35 50 0 0.00 ENSG00000228539 0 genome.wustl.edu 37 20 24476198 24476198 + RNA SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 20 24476198 24476198 A G SNP ENSG00000228539 ENST00000458461 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-526K17.2 Clone_based_vega_gene ENSG00000228539 24 14 36.84 29 0 0.00 ENSG00000228560 0 genome.wustl.edu 37 1 159316121 159316121 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 159316121 159316121 G T SNP ENSG00000228560 ENST00000431862 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-550P17.5 Clone_based_vega_gene ENSG00000228560 27 3 10.00 32 0 0.00 ENSG00000228704 0 genome.wustl.edu 37 6 125752346 125752346 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 6 125752346 125752346 G T SNP ENSG00000228704 ENST00000430672 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors RP11-138M12.1 Clone_based_vega_gene ENSG00000228704 14 8 36.36 13 0 0.00 ENSG00000228735 0 genome.wustl.edu 37 7 54643796 54643796 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 54643796 54643796 G A SNP ENSG00000228735 ENST00000439027 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GS1-18A18.2 Clone_based_vega_gene ENSG00000228735 40 10 20.00 39 0 0.00 ENSG00000228748 0 genome.wustl.edu 37 10 79551667 79551667 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 79551667 79551667 G A SNP ENSG00000228748 ENST00000434097 human ensembl 70_37 +1 known rna NULL NULL 0.064 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000228748 29 26 47.27 47 0 0.00 ENSG00000228763 0 genome.wustl.edu 37 2 109293261 109293261 + RNA DEL A A - TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 109293261 109293261 A - DEL ENSG00000228763 ENST00000411710 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010095.5 Clone_based_vega_gene ENSG00000228763 46 38 45.24 72 0 0.00 ENSG00000228768 0 genome.wustl.edu 37 17 29898310 29898310 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 29898310 29898310 C T SNP ENSG00000228768 ENST00000412403 human ensembl 70_37 +1 putative missense c.146 p.A49V 0.000 NULL NULL - no_errors AC003101.1 Clone_based_vega_gene ENSG00000228768 51 15 22.73 34 0 0.00 ENSG00000228804 0 genome.wustl.edu 37 3 187451567 187451567 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 187451567 187451567 G A SNP ENSG00000228804 ENST00000449623 human ensembl 70_37 +1 putative missense c.385 p.A129T 0.015 NULL NULL - no_errors RP11-211G3.3 Clone_based_vega_gene ENSG00000228804 33 39 53.42 50 0 0.00 ENSG00000228809 0 genome.wustl.edu 37 20 16695511 16695511 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 16695511 16695511 G C SNP ENSG00000228809 ENST00000425939 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-705D16.3 Clone_based_vega_gene ENSG00000228809 26 22 44.90 30 0 0.00 ENSG00000228830 0 genome.wustl.edu 37 1 234742800 234742801 + RNA DEL AT AT - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 234742800 234742801 AT - DEL ENSG00000228830 ENST00000436039 human ensembl 70_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors RP4-781K5.2 Clone_based_vega_gene ENSG00000228830 13 3 18.75 25 0 0.00 ENSG00000228933 0 genome.wustl.edu 37 X 27193166 27193166 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 27193166 27193166 C T SNP ENSG00000228933 ENST00000422048 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-268G12.1 Clone_based_vega_gene ENSG00000228933 23 9 28.12 15 0 0.00 ENSG00000228944 0 genome.wustl.edu 37 7 24295302 24295302 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 24295302 24295302 G C SNP ENSG00000228944 ENST00000439839 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004485.3 Clone_based_vega_gene ENSG00000228944 27 20 42.55 38 0 0.00 ENSG00000228980 0 genome.wustl.edu 37 3 109129036 109129036 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 109129036 109129036 G A SNP ENSG00000228980 ENST00000489670 human ensembl 70_37 +1 known rna NULL NULL 0.126 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 26 6 18.75 27 0 0.00 ENSG00000229012 0 genome.wustl.edu 37 X 8835639 8835640 + RNA INS - - GA TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 8835639 8835640 - GA INS ENSG00000229012 ENST00000440430 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors GS1-542M4.4 Clone_based_vega_gene ENSG00000229012 13 3 18.75 25 0 0.00 ENSG00000229180 0 genome.wustl.edu 37 7 65996756 65996756 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 65996756 65996756 C T SNP ENSG00000229180 ENST00000449307 human ensembl 70_37 -1 known rna NULL NULL 0.544 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000229180 11 9 45.00 12 0 0.00 ENSG00000229180 0 genome.wustl.edu 37 7 66006483 66006483 + RNA SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 66006483 66006483 T C SNP ENSG00000229180 ENST00000449307 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000229180 36 24 40.00 30 0 0.00 ENSG00000229203 0 genome.wustl.edu 37 2 132587476 132587476 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 132587476 132587476 C T SNP ENSG00000229203 ENST00000437330 human ensembl 70_37 -1 known rna NULL NULL 0.855 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000229203 8 13 59.09 20 0 0.00 ENSG00000229203 0 genome.wustl.edu 37 2 132587691 132587691 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 132587691 132587691 G A SNP ENSG00000229203 ENST00000437330 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000229203 121 33 21.43 95 0 0.00 ENSG00000229206 0 genome.wustl.edu 37 10 11072470 11072470 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 11072470 11072470 C A SNP ENSG00000229206 ENST00000428853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-397O4.1 Clone_based_vega_gene ENSG00000229206 39 7 15.22 21 0 0.00 ENSG00000229334 0 genome.wustl.edu 37 3 194353786 194353786 + RNA SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 194353786 194353786 C G SNP ENSG00000229334 ENST00000447139 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors AC046143.3 Clone_based_vega_gene ENSG00000229334 96 25 20.66 18 0 0.00 ENSG00000229400 0 genome.wustl.edu 37 1 224918072 224918072 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 224918072 224918072 G A SNP ENSG00000229400 ENST00000431691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-3L21.2 Clone_based_vega_gene ENSG00000229400 77 25 24.51 56 0 0.00 ENSG00000229400 0 genome.wustl.edu 37 1 224918075 224918075 + RNA SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 224918075 224918075 G A SNP ENSG00000229400 ENST00000431691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-3L21.2 Clone_based_vega_gene ENSG00000229400 37 5 11.90 28 0 0.00 ENSG00000229481 0 genome.wustl.edu 37 19 38321686 38321686 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38321686 38321686 G C SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.854 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 15 10 40.00 14 0 0.00 ENSG00000229481 0 genome.wustl.edu 37 19 38321988 38321988 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38321988 38321988 A G SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.952 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 45 11 19.64 52 0 0.00 ENSG00000229481 0 genome.wustl.edu 37 19 38322049 38322049 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38322049 38322049 G A SNP ENSG00000229481 ENST00000443870 human ensembl 70_37 +1 known rna NULL NULL 0.514 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 37 8 17.78 46 0 0.00 ENSG00000229569 0 genome.wustl.edu 37 10 80763446 80763446 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 80763446 80763446 G C SNP ENSG00000229569 ENST00000427035 human ensembl 70_37 -1 known rna NULL NULL 0.197 - - - no_errors RP11-481G8.2 Clone_based_vega_gene ENSG00000229569 13 9 40.91 40 0 0.00 ENSG00000229607 0 genome.wustl.edu 37 1 31283553 31283553 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 31283553 31283553 T G SNP ENSG00000229607 ENST00000440358 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1125N11.1 Clone_based_vega_gene ENSG00000229607 35 24 40.68 49 0 0.00 ENSG00000229702 0 genome.wustl.edu 37 X 129649757 129649757 + RNA SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 129649757 129649757 C G SNP ENSG00000229702 ENST00000458525 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 76 20 20.83 95 0 0.00 ENSG00000229732 0 genome.wustl.edu 37 17 39658603 39658603 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39658603 39658603 G T SNP ENSG00000229732 ENST00000411759 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC019349.5 Clone_based_vega_gene ENSG00000229732 25 15 37.50 32 0 0.00 ENSG00000229750 0 genome.wustl.edu 37 2 176032661 176032661 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 2 176032661 176032661 G A SNP ENSG00000229750 ENST00000449168 human ensembl 70_37 +1 known rna NULL NULL 0.977 - - - no_errors AC096649.2 Clone_based_vega_gene ENSG00000229750 2 5 71.43 12 0 0.00 ENSG00000229821 0 genome.wustl.edu 37 1 201192022 201192022 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 201192022 201192022 G T SNP ENSG00000229821 ENST00000453155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-567E21.3 Clone_based_vega_gene ENSG00000229821 14 4 22.22 20 0 0.00 ENSG00000229821 0 genome.wustl.edu 37 1 201192022 201192022 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 201192022 201192022 G T SNP ENSG00000229821 ENST00000453155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-567E21.3 Clone_based_vega_gene ENSG00000229821 23 19 45.24 31 0 0.00 ENSG00000229895 0 genome.wustl.edu 37 1 116916774 116916774 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 116916774 116916774 G C SNP ENSG00000229895 ENST00000432281 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP4-655J12.3 Clone_based_vega_gene ENSG00000229895 61 41 40.20 90 0 0.00 ENSG00000229970 0 genome.wustl.edu 37 7 8301939 8301939 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 8301939 8301939 C G SNP ENSG00000229970 ENST00000424460 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007128.1 Clone_based_vega_gene ENSG00000229970 35 13 27.08 17 0 0.00 ENSG00000230021 0 genome.wustl.edu 37 1 647148 647148 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 647148 647148 C G SNP ENSG00000230021 ENST00000419394 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-857K21.4 Clone_based_vega_gene ENSG00000230021 7 6 46.15 8 0 0.00 ENSG00000230028 0 genome.wustl.edu 37 X 75108937 75108937 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 75108937 75108937 C A SNP ENSG00000230028 ENST00000431331 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-212D3.3 Clone_based_vega_gene ENSG00000230028 30 6 16.67 19 0 0.00 ENSG00000230092 0 genome.wustl.edu 37 1 741258 741258 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 741258 741258 C T SNP ENSG00000230092 ENST00000447500 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-206L10.8 Clone_based_vega_gene ENSG00000230092 43 5 10.42 33 0 0.00 ENSG00000230159 0 genome.wustl.edu 37 X 115827973 115827973 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 115827973 115827973 A G SNP ENSG00000230159 ENST00000446495 human ensembl 70_37 -1 known rna NULL NULL 0.032 - - - no_errors RP11-232D9.3 Clone_based_vega_gene ENSG00000230159 21 4 16.00 35 0 0.00 ENSG00000230303 0 genome.wustl.edu 37 9 88401416 88401416 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 88401416 88401416 C G SNP ENSG00000230303 ENST00000418478 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000230303 33 8 19.51 48 0 0.00 ENSG00000230333 0 genome.wustl.edu 37 7 11559789 11559789 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 11559789 11559789 G A SNP ENSG00000230333 ENST00000445839 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004538.3 Clone_based_vega_gene ENSG00000230333 60 9 13.04 36 0 0.00 ENSG00000230393 0 genome.wustl.edu 37 2 100721880 100721880 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 100721880 100721880 G A SNP ENSG00000230393 ENST00000434301 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC092667.2 Clone_based_vega_gene ENSG00000230393 32 11 25.58 33 0 0.00 ENSG00000230393 0 genome.wustl.edu 37 2 100722591 100722591 + RNA SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 100722591 100722591 G C SNP ENSG00000230393 ENST00000434301 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC092667.2 Clone_based_vega_gene ENSG00000230393 45 5 10.00 43 0 0.00 ENSG00000230408 0 genome.wustl.edu 37 2 201676637 201676637 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201676637 201676637 C T SNP ENSG00000230408 ENST00000447972 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007163.6 Clone_based_vega_gene ENSG00000230408 75 14 15.73 33 0 0.00 ENSG00000230440 0 genome.wustl.edu 37 20 26114720 26114720 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 26114720 26114720 G A SNP ENSG00000230440 ENST00000416563 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP13-329D4.3 Clone_based_vega_gene ENSG00000230440 18 5 21.74 23 0 0.00 ENSG00000230533 0 genome.wustl.edu 37 6 137995196 137995196 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 137995196 137995196 G A SNP ENSG00000230533 ENST00000440397 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-95M15.1 Clone_based_vega_gene ENSG00000230533 42 19 31.15 40 0 0.00 ENSG00000230551 0 genome.wustl.edu 37 5 148874567 148874567 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 148874567 148874567 G A SNP ENSG00000230551 ENST00000412431 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 43 15 25.86 41 0 0.00 ENSG00000230551 0 genome.wustl.edu 37 5 148875134 148875134 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 148875134 148875134 G A SNP ENSG00000230551 ENST00000499521 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 30 19 38.78 34 0 0.00 ENSG00000230572 0 genome.wustl.edu 37 2 91894188 91894188 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 91894188 91894188 C G SNP ENSG00000230572 ENST00000436174 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC027612.3 Clone_based_vega_gene ENSG00000230572 142 21 12.80 136 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44569210 44569210 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 44569210 44569210 G A SNP ENSG00000230615 ENST00000434244 human ensembl 70_37 +1 known rna NULL NULL 0.650 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 171 77 31.05 127 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44569468 44569468 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 44569468 44569468 C G SNP ENSG00000230615 ENST00000434244 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 41 11 21.15 37 0 0.00 ENSG00000230782 0 genome.wustl.edu 37 9 109737169 109737169 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 109737169 109737169 C T SNP ENSG00000230782 ENST00000439901 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-508N12.2 Clone_based_vega_gene ENSG00000230782 41 27 39.71 49 0 0.00 ENSG00000230817 0 genome.wustl.edu 37 1 83369386 83369386 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 83369386 83369386 G T SNP ENSG00000230817 ENST00000452901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-601K24.1 Clone_based_vega_gene ENSG00000230817 34 4 10.53 47 0 0.00 ENSG00000230839 0 genome.wustl.edu 37 20 1791852 1791852 + RNA SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 1791852 1791852 C A SNP ENSG00000230839 ENST00000447206 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-968J1.1 Clone_based_vega_gene ENSG00000230839 27 22 44.90 39 0 0.00 ENSG00000230850 0 genome.wustl.edu 37 1 143232870 143232870 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143232870 143232870 T G SNP ENSG00000230850 ENST00000438000 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors BX571672.1 Clone_based_vega_gene ENSG00000230850 10 9 47.37 25 0 0.00 ENSG00000230850 0 genome.wustl.edu 37 1 143232968 143232968 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143232968 143232968 G A SNP ENSG00000230850 ENST00000438000 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX571672.1 Clone_based_vega_gene ENSG00000230850 13 15 53.57 26 0 0.00 ENSG00000230880 0 genome.wustl.edu 37 1 142619328 142619328 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 142619328 142619328 G A SNP ENSG00000230880 ENST00000411746 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors AL583842.3 Clone_based_vega_gene ENSG00000230880 127 15 10.56 94 0 0.00 ENSG00000230880 0 genome.wustl.edu 37 1 142621471 142621471 + RNA SNP G G C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 142621471 142621471 G C SNP ENSG00000230880 ENST00000412092 human ensembl 70_37 +1 putative rna NULL NULL 0.021 - - - no_errors AL583842.3 Clone_based_vega_gene ENSG00000230880 12 6 33.33 13 0 0.00 ENSG00000230891 0 genome.wustl.edu 37 3 25913294 25913294 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 25913294 25913294 C A SNP ENSG00000230891 ENST00000496997 human ensembl 70_37 -1 known rna NULL NULL 0.269 - - - no_errors AC103588.1 Clone_based_vega_gene ENSG00000230891 23 3 11.54 57 0 0.00 ENSG00000230969 0 genome.wustl.edu 37 17 16891662 16891662 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16891662 16891662 G C SNP ENSG00000230969 ENST00000419151 human ensembl 70_37 +1 known rna NULL NULL 0.259 - - - no_errors AC104024.2 Clone_based_vega_gene ENSG00000230969 5 8 61.54 16 0 0.00 ENSG00000231010 0 genome.wustl.edu 37 22 46453727 46453727 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 46453727 46453727 G T SNP ENSG00000231010 ENST00000439423 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP6-109B7.2 Clone_based_vega_gene ENSG00000231010 29 4 12.12 31 0 0.00 ENSG00000231050 0 genome.wustl.edu 37 1 1823744 1823744 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 1823744 1823744 C G SNP ENSG00000231050 ENST00000412228 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-140A9.1 Clone_based_vega_gene ENSG00000231050 25 9 26.47 45 0 0.00 ENSG00000231050 0 genome.wustl.edu 37 1 1823929 1823929 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1823929 1823929 C T SNP ENSG00000231050 ENST00000412228 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-140A9.1 Clone_based_vega_gene ENSG00000231050 51 35 40.70 82 0 0.00 ENSG00000231064 0 genome.wustl.edu 37 1 155166667 155166667 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155166667 155166667 G T SNP ENSG00000231064 ENST00000447623 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 10 14 58.33 13 0 0.00 ENSG00000231083 0 genome.wustl.edu 37 2 8763013 8763013 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 8763013 8763013 G C SNP ENSG00000231083 ENST00000425678 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011747.6 Clone_based_vega_gene ENSG00000231083 24 8 25.00 15 0 0.00 ENSG00000231171 0 genome.wustl.edu 37 4 178897087 178897087 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 178897087 178897087 C G SNP ENSG00000231171 ENST00000507870 human ensembl 70_37 +1 putative missense c.290 p.S97C 0.000 NULL NULL - no_errors RP11-389E17.1 Clone_based_vega_gene ENSG00000231171 44 15 25.42 53 0 0.00 ENSG00000231183 0 genome.wustl.edu 37 7 76532184 76532184 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 76532184 76532184 C T SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000231183 19 8 29.63 16 0 0.00 ENSG00000231183 0 genome.wustl.edu 37 7 76532191 76532191 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 76532191 76532191 T G SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000231183 27 4 12.90 36 0 0.00 ENSG00000231183 0 genome.wustl.edu 37 7 76532277 76532277 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 76532277 76532277 T G SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000231183 24 6 20.00 34 0 0.00 ENSG00000231187 0 genome.wustl.edu 37 10 46966512 46966512 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 46966512 46966512 G T SNP ENSG00000231187 ENST00000506914 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-38L15.3 Clone_based_vega_gene ENSG00000231187 116 20 14.71 70 0 0.00 ENSG00000231196 0 genome.wustl.edu 37 1 147763200 147763200 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 147763200 147763200 G C SNP ENSG00000231196 ENST00000434245 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors RP11-495P10.8 Clone_based_vega_gene ENSG00000231196 56 13 18.84 22 0 0.00 ENSG00000231236 0 genome.wustl.edu 37 21 28732862 28732862 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 28732862 28732862 G T SNP ENSG00000231236 ENST00000420186 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AP001604.3 Clone_based_vega_gene ENSG00000231236 24 36 60.00 39 0 0.00 ENSG00000231236 0 genome.wustl.edu 37 21 28732863 28732863 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 21 28732863 28732863 G T SNP ENSG00000231236 ENST00000420186 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AP001604.3 Clone_based_vega_gene ENSG00000231236 6 28 82.35 35 0 0.00 ENSG00000231242 0 genome.wustl.edu 37 9 69083139 69083139 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 69083139 69083139 T C SNP ENSG00000231242 ENST00000412376 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 35 8 18.60 21 0 0.00 ENSG00000231363 0 genome.wustl.edu 37 1 94713493 94713493 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 94713493 94713493 G T SNP ENSG00000231363 ENST00000413103 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-148B18.1 Clone_based_vega_gene ENSG00000231363 30 4 11.76 29 0 0.00 ENSG00000231364 0 genome.wustl.edu 37 1 83912273 83912273 + RNA DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 83912273 83912273 A - DEL ENSG00000231364 ENST00000446227 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000231364 20 11 35.48 18 0 0.00 ENSG00000231364 0 genome.wustl.edu 37 1 83912348 83912348 + RNA SNP C C T TCGA-C5-A2LV-01A-11D-A18J-09 TCGA-C5-A2LV-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3269608c-5dd7-452a-976a-31ac971aac2f 28fa35ae-f144-4ef0-918e-fe72471c8101 1 83912348 83912348 C T SNP ENSG00000231364 ENST00000446227 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000231364 19 3 13.64 28 0 0.00 ENSG00000231420 0 genome.wustl.edu 37 2 151113458 151113458 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 151113458 151113458 C A SNP ENSG00000231420 ENST00000429317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC113610.1 Clone_based_vega_gene ENSG00000231420 38 27 41.54 40 0 0.00 ENSG00000231421 0 genome.wustl.edu 37 17 28903075 28903075 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28903075 28903075 C T SNP ENSG00000231421 ENST00000436477 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors AC006050.2 Clone_based_vega_gene ENSG00000231421 55 58 51.33 121 0 0.00 ENSG00000231437 0 genome.wustl.edu 37 1 112539048 112539048 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 112539048 112539048 G C SNP ENSG00000231437 ENST00000438293 human ensembl 70_37 +1 putative splice_site c.NULL NULL 0.545 - - - no_errors RP11-88H9.1 Clone_based_vega_gene ENSG00000231437 16 12 42.86 32 0 0.00 ENSG00000231486 0 genome.wustl.edu 37 2 89156812 89156812 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 89156812 89156812 G T SNP ENSG00000231486 ENST00000430694 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC096579.7 Clone_based_vega_gene ENSG00000231486 22 22 50.00 44 0 0.00 ENSG00000231512 0 genome.wustl.edu 37 1 243211121 243211121 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 243211121 243211121 G A SNP ENSG00000231512 ENST00000420830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000231512 57 11 16.18 123 0 0.00 ENSG00000231512 0 genome.wustl.edu 37 1 243211121 243211121 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 243211121 243211121 G C SNP ENSG00000231512 ENST00000420830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000231512 148 25 14.45 150 0 0.00 ENSG00000231681 0 genome.wustl.edu 37 7 50242183 50242183 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 50242183 50242183 G A SNP ENSG00000231681 ENST00000457592 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC020743.3 Clone_based_vega_gene ENSG00000231681 34 18 34.62 25 0 0.00 ENSG00000231689 0 genome.wustl.edu 37 2 189093056 189093056 + RNA SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 189093056 189093056 G T SNP ENSG00000231689 ENST00000415357 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 10 10 50.00 29 0 0.00 ENSG00000231731 0 genome.wustl.edu 37 2 128247262 128247262 + RNA DEL A A - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 128247262 128247262 A - DEL ENSG00000231731 ENST00000454503 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 15 21 58.33 13 0 0.00 ENSG00000231794 0 genome.wustl.edu 37 7 134884911 134884911 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 134884911 134884911 G T SNP ENSG00000231794 ENST00000412549 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors AC009542.2 Clone_based_vega_gene ENSG00000231794 41 5 10.87 48 0 0.00 ENSG00000231817 0 genome.wustl.edu 37 13 47032630 47032630 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 47032630 47032630 C A SNP ENSG00000231817 ENST00000595532 human ensembl 70_37 -1 known rna NULL NULL 0.036 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 45 6 11.76 40 0 0.00 ENSG00000231817 0 genome.wustl.edu 37 13 47032640 47032640 + RNA SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 47032640 47032640 A C SNP ENSG00000231817 ENST00000595532 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 44 6 12.00 42 0 0.00 ENSG00000231937 0 genome.wustl.edu 37 X 151332919 151332919 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 151332919 151332919 G T SNP ENSG00000231937 ENST00000453915 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-329E24.6 Clone_based_vega_gene ENSG00000231937 43 24 35.82 32 0 0.00 ENSG00000231970 0 genome.wustl.edu 37 10 99161090 99161090 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 99161090 99161090 C G SNP ENSG00000231970 ENST00000422848 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors RP11-452K12.7 Clone_based_vega_gene ENSG00000231970 12 15 55.56 38 0 0.00 ENSG00000232018 0 genome.wustl.edu 37 14 101433370 101433370 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101433370 101433370 A C SNP ENSG00000232018 ENST00000442197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AL132709.8 Clone_based_vega_gene ENSG00000232018 6 6 50.00 25 0 0.00 ENSG00000232043 0 genome.wustl.edu 37 20 49190965 49190965 + RNA SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 49190965 49190965 C A SNP ENSG00000232043 ENST00000431019 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-530I15.9 Clone_based_vega_gene ENSG00000232043 38 7 15.56 31 0 0.00 ENSG00000232100 0 genome.wustl.edu 37 1 218217116 218217116 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 218217116 218217116 C G SNP ENSG00000232100 ENST00000456026 human ensembl 70_37 +1 known rna NULL NULL 0.382 - - - no_errors RP11-152L7.2 Clone_based_vega_gene ENSG00000232100 27 33 54.10 32 0 0.00 ENSG00000232151 0 genome.wustl.edu 37 1 149649800 149649800 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 149649800 149649800 C A SNP ENSG00000232151 ENST00000445225 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors RP11-277L2.2 Clone_based_vega_gene ENSG00000232151 11 5 31.25 16 0 0.00 ENSG00000232151 0 genome.wustl.edu 37 1 149651005 149651008 + RNA DEL TTTG TTTG - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 149651005 149651008 TTTG - DEL ENSG00000232151 ENST00000445225 human ensembl 70_37 +1 known rna NULL NULL 0.378:0.380:0.381:0.380 - - - no_errors RP11-277L2.2 Clone_based_vega_gene ENSG00000232151 14 7 33.33 8 0 0.00 ENSG00000232190 0 genome.wustl.edu 37 16 87097120 87097121 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 87097120 87097121 - T INS ENSG00000232190 ENST00000430050 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-134D3.1 Clone_based_vega_gene ENSG00000232190 55 24 30.38 31 0 0.00 ENSG00000232220 0 genome.wustl.edu 37 19 54379103 54379104 + RNA INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 54379103 54379104 - A INS ENSG00000232220 ENST00000413496 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 17 4 19.05 43 0 0.00 ENSG00000232225 0 genome.wustl.edu 37 13 89868280 89868280 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 89868280 89868280 C T SNP ENSG00000232225 ENST00000445027 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors RP11-143O10.1 Clone_based_vega_gene ENSG00000232225 30 23 43.40 22 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189125 143189125 + RNA SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 143189125 143189125 G A SNP ENSG00000232274 ENST00000447389 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 4 5 55.56 11 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189128 143189128 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 143189128 143189128 G A SNP ENSG00000232274 ENST00000447389 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 4 4 50.00 8 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189135 143189135 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 143189135 143189135 C T SNP ENSG00000232274 ENST00000447389 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 10 4 28.57 23 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143207812 143207812 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143207812 143207812 G T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.803 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 47 30 38.96 153 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143209472 143209472 + RNA SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 143209472 143209472 T C SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.587 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 52 18 25.71 59 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143209660 143209660 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143209660 143209660 C T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 16 10 38.46 24 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143209751 143209751 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 143209751 143209751 G T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 39 8 17.02 39 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210096 143210096 + RNA SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 143210096 143210096 C G SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.373 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 135 84 38.36 196 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210344 143210344 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 143210344 143210344 G A SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 94 40 29.85 90 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210436 143210436 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 143210436 143210436 G A SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 29 7 19.44 18 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210571 143210572 + RNA DEL AC AC - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 143210571 143210572 AC - DEL ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.083:0.084 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 21 3 12.50 37 0 0.00 ENSG00000232283 0 genome.wustl.edu 37 9 99012011 99012011 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 99012011 99012011 C T SNP ENSG00000232283 ENST00000448857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-240L7.4 Clone_based_vega_gene ENSG00000232283 40 21 34.43 78 0 0.00 ENSG00000232301 0 genome.wustl.edu 37 7 100944258 100944258 + RNA SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 100944258 100944258 G A SNP ENSG00000232301 ENST00000429254 human ensembl 70_37 +1 known rna NULL NULL 0.140 - - - no_errors RP11-132A1.3 Clone_based_vega_gene ENSG00000232301 12 18 60.00 16 0 0.00 ENSG00000232336 0 genome.wustl.edu 37 1 143189660 143189660 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143189660 143189660 C A SNP ENSG00000232336 ENST00000425124 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors BX571672.3 Clone_based_vega_gene ENSG00000232336 12 8 40.00 22 0 0.00 ENSG00000232411 0 genome.wustl.edu 37 2 166695403 166695403 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 166695403 166695403 G T SNP ENSG00000232411 ENST00000457108 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AC009495.3 Clone_based_vega_gene ENSG00000232411 45 10 18.18 19 0 0.00 ENSG00000232412 0 genome.wustl.edu 37 X 123093241 123093241 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 123093241 123093241 C T SNP ENSG00000232412 ENST00000426367 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors RP1-315G1.3 Clone_based_vega_gene ENSG00000232412 96 86 47.25 43 0 0.00 ENSG00000232462 0 genome.wustl.edu 37 10 49364145 49364145 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 49364145 49364145 C G SNP ENSG00000232462 ENST00000429307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-13E1.5 Clone_based_vega_gene ENSG00000232462 116 54 31.58 192 0 0.00 ENSG00000232500 0 genome.wustl.edu 37 11 64272849 64272849 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 64272849 64272849 C T SNP ENSG00000232500 ENST00000444862 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors AP005273.1 Clone_based_vega_gene ENSG00000232500 12 13 52.00 30 0 0.00 ENSG00000232554 0 genome.wustl.edu 37 10 45602409 45602409 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 45602409 45602409 C T SNP ENSG00000232554 ENST00000423875 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors RP11-445N18.9 Clone_based_vega_gene ENSG00000232554 21 15 41.67 50 0 0.00 ENSG00000232633 0 genome.wustl.edu 37 5 112768996 112768996 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 112768996 112768996 G A SNP ENSG00000232633 ENST00000416046 human ensembl 70_37 +1 known rna NULL NULL 0.195 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000232633 18 16 47.06 47 0 0.00 ENSG00000232633 0 genome.wustl.edu 37 5 112769108 112769108 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 112769108 112769108 C T SNP ENSG00000232633 ENST00000416046 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000232633 43 21 32.81 113 0 0.00 ENSG00000232633 0 genome.wustl.edu 37 5 112770617 112770617 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 112770617 112770617 C G SNP ENSG00000232633 ENST00000383058 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000232633 23 4 14.81 24 0 0.00 ENSG00000232719 0 genome.wustl.edu 37 2 201966480 201966481 + RNA INS - - T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 201966480 201966481 - T INS ENSG00000232719 ENST00000448256 human ensembl 70_37 +1 known rna NULL NULL 0.080:0.072 - - - no_errors RP11-13J8.1 Clone_based_vega_gene ENSG00000232719 20 4 16.67 30 0 0.00 ENSG00000232765 0 genome.wustl.edu 37 X 55307817 55307817 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 55307817 55307817 G A SNP ENSG00000232765 ENST00000440645 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors RP11-382F24.2 Clone_based_vega_gene ENSG00000232765 32 19 37.25 53 0 0.00 ENSG00000232765 0 genome.wustl.edu 37 X 55307825 55307825 + RNA SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 55307825 55307825 A G SNP ENSG00000232765 ENST00000440645 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-382F24.2 Clone_based_vega_gene ENSG00000232765 23 20 46.51 51 0 0.00 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838274 + RNA DEL A A - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 197838274 197838274 A - DEL ENSG00000232783 ENST00000411596 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 15 9 37.50 12 0 0.00 ENSG00000232783 0 genome.wustl.edu 37 3 197838311 197838311 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 197838311 197838311 C A SNP ENSG00000232783 ENST00000419104 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 13 6 31.58 12 0 0.00 ENSG00000232783 0 genome.wustl.edu 37 3 197838353 197838353 + RNA SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 3 197838353 197838353 G C SNP ENSG00000232783 ENST00000419104 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 19 11 36.67 26 0 0.00 ENSG00000232850 0 genome.wustl.edu 37 9 130890938 130890938 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130890938 130890938 G A SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known silent c.153 p.T51 0.000 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 27 7 20.59 75 0 0.00 ENSG00000232850 0 genome.wustl.edu 37 9 130890945 130890945 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130890945 130890945 G A SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.160 p.E54K 0.045 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 30 7 18.92 80 0 0.00 ENSG00000232850 0 genome.wustl.edu 37 9 130891140 130891140 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130891140 130891140 G C SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.355 p.E119Q 0.007 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 40 12 23.08 92 0 0.00 ENSG00000232850 0 genome.wustl.edu 37 9 130891158 130891158 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130891158 130891158 G C SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.373 p.V125L 0.000 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 38 13 25.49 92 0 0.00 ENSG00000232856 0 genome.wustl.edu 37 7 132719526 132719526 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 132719526 132719526 C T SNP ENSG00000232856 ENST00000448615 human ensembl 70_37 -1 known silent c.462 p.P154 0.951 superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,pfscan_Transl_elong_EF1_G_con - no_errors hsa-mir-3654 miRBase ENSG00000232856 11 7 38.89 28 0 0.00 ENSG00000232903 0 genome.wustl.edu 37 10 134759255 134759255 + RNA SNP C C A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 10 134759255 134759255 C A SNP ENSG00000232903 ENST00000443633 human ensembl 70_37 -1 putative rna NULL NULL 0.135 - - - no_errors RP13-137A17.4 Clone_based_vega_gene ENSG00000232903 97 30 23.62 130 0 0.00 ENSG00000233002 0 genome.wustl.edu 37 17 15638647 15638647 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 15638647 15638647 G A SNP ENSG00000233002 ENST00000434017 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233002 44 12 21.43 85 0 0.00 ENSG00000233002 0 genome.wustl.edu 37 17 15644038 15644038 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 15644038 15644038 G A SNP ENSG00000233002 ENST00000580194 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233002 35 14 28.57 24 0 0.00 ENSG00000233048 0 genome.wustl.edu 37 20 12846314 12846314 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 12846314 12846314 G A SNP ENSG00000233048 ENST00000456265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1069C8.2 Clone_based_vega_gene ENSG00000233048 34 36 50.70 24 0 0.00 ENSG00000233098 0 genome.wustl.edu 37 17 20805926 20805926 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 20805926 20805926 C T SNP ENSG00000233098 ENST00000577537 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 31 19 37.25 46 0 0.00 ENSG00000233145 0 genome.wustl.edu 37 X 139099535 139099535 + RNA SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 139099535 139099535 C A SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000233145 26 9 25.71 30 0 0.00 ENSG00000233145 0 genome.wustl.edu 37 X 139099890 139099890 + RNA SNP A A T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 139099890 139099890 A T SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000233145 49 9 15.52 28 0 0.00 ENSG00000233145 0 genome.wustl.edu 37 X 139099965 139099965 + RNA SNP A A G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 139099965 139099965 A G SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000233145 27 4 12.90 43 0 0.00 ENSG00000233175 0 genome.wustl.edu 37 17 43315909 43315909 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 43315909 43315909 G A SNP ENSG00000233175 ENST00000587534 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 55 20 26.67 64 0 0.00 ENSG00000233175 0 genome.wustl.edu 37 17 43318472 43318473 + RNA INS - - C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 43318472 43318473 - C INS ENSG00000233175 ENST00000587534 human ensembl 70_37 -1 known rna NULL NULL 0.950:0.998 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 26 8 23.53 41 0 0.00 ENSG00000233177 0 genome.wustl.edu 37 10 121333127 121333127 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 121333127 121333127 C G SNP ENSG00000233177 ENST00000448423 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-179H18.2 Clone_based_vega_gene ENSG00000233177 24 21 46.67 45 0 0.00 ENSG00000233178 0 genome.wustl.edu 37 9 71012048 71012048 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71012048 71012048 C G SNP ENSG00000233178 ENST00000590767 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-88I18.2 Clone_based_vega_gene ENSG00000233178 5 27 84.38 22 0 0.00 ENSG00000233223 0 genome.wustl.edu 37 17 7485338 7485339 + RNA INS - - CCCA TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 7485338 7485339 - CCCA INS ENSG00000233223 ENST00000415124 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC113189.5 Clone_based_vega_gene ENSG00000233223 21 5 19.23 9 0 0.00 ENSG00000233365 0 genome.wustl.edu 37 6 166656415 166656415 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 166656415 166656415 C T SNP ENSG00000233365 ENST00000444219 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-655C5.4 Clone_based_vega_gene ENSG00000233365 39 15 27.78 37 0 0.00 ENSG00000233393 0 genome.wustl.edu 37 21 37480191 37480191 + RNA SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37480191 37480191 T A SNP ENSG00000233393 ENST00000422473 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors AP000688.29 Clone_based_vega_gene ENSG00000233393 47 9 16.07 37 0 0.00 ENSG00000233421 0 genome.wustl.edu 37 1 16861068 16861068 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 16861068 16861068 C T SNP ENSG00000233421 ENST00000415386 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-875O13.1 Clone_based_vega_gene ENSG00000233421 63 12 16.00 61 0 0.00 ENSG00000233421 0 genome.wustl.edu 37 1 16862024 16862024 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 16862024 16862024 G A SNP ENSG00000233421 ENST00000415386 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-875O13.1 Clone_based_vega_gene ENSG00000233421 7 3 30.00 13 0 0.00 ENSG00000233483 0 genome.wustl.edu 37 17 43326179 43326179 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43326179 43326179 C T SNP ENSG00000233483 ENST00000591361 human ensembl 70_37 -1 known rna NULL NULL 0.903 - - - no_errors CTD-2020K17.4 Clone_based_vega_gene ENSG00000233483 38 22 36.67 46 0 0.00 ENSG00000233485 0 genome.wustl.edu 37 1 15654738 15654738 + RNA DEL T T - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 15654738 15654738 T - DEL ENSG00000233485 ENST00000428747 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP3-467K16.2 Clone_based_vega_gene ENSG00000233485 20 4 16.67 16 0 0.00 ENSG00000233491 0 genome.wustl.edu 37 7 81205930 81205930 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 81205930 81205930 C G SNP ENSG00000233491 ENST00000413944 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC010091.1 Clone_based_vega_gene ENSG00000233491 41 39 48.75 37 0 0.00 ENSG00000233513 0 genome.wustl.edu 37 6 85398359 85398359 + RNA SNP T T A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 85398359 85398359 T A SNP ENSG00000233513 ENST00000330469 human ensembl 70_37 -1 putative rna NULL NULL 0.885 - - - no_errors RP11-132M7.1 Clone_based_vega_gene ENSG00000233513 19 20 51.28 50 0 0.00 ENSG00000233513 0 genome.wustl.edu 37 6 85398365 85398365 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 85398365 85398365 C A SNP ENSG00000233513 ENST00000330469 human ensembl 70_37 -1 putative rna NULL NULL 0.006 - - - no_errors RP11-132M7.1 Clone_based_vega_gene ENSG00000233513 15 3 16.67 35 0 0.00 ENSG00000233539 0 genome.wustl.edu 37 7 46728852 46728852 + RNA SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 7 46728852 46728852 G T SNP ENSG00000233539 ENST00000469937 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011294.3 Clone_based_vega_gene ENSG00000233539 19 5 20.83 10 0 0.00 ENSG00000233539 0 genome.wustl.edu 37 7 46736610 46736610 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 46736610 46736610 C T SNP ENSG00000233539 ENST00000451905 human ensembl 70_37 -1 putative missense c.3 p.M1I 0.186 NULL NULL - no_errors AC011294.3 Clone_based_vega_gene ENSG00000233539 48 14 22.58 40 0 0.00 ENSG00000233559 0 genome.wustl.edu 37 7 130546907 130546907 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 130546907 130546907 G A SNP ENSG00000233559 ENST00000447430 human ensembl 70_37 +1 known rna NULL NULL 0.052 - - - no_errors AC016831.7 Clone_based_vega_gene ENSG00000233559 33 13 28.26 30 0 0.00 ENSG00000233569 0 genome.wustl.edu 37 9 120413195 120413195 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 120413195 120413195 G A SNP ENSG00000233569 ENST00000450938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-500B12.1 Clone_based_vega_gene ENSG00000233569 31 8 20.00 26 0 0.00 ENSG00000233574 0 genome.wustl.edu 37 22 27678528 27678528 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 27678528 27678528 G T SNP ENSG00000233574 ENST00000449126 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTA-929C8.5 Clone_based_vega_gene ENSG00000233574 34 4 10.53 31 0 0.00 ENSG00000233577 0 genome.wustl.edu 37 22 25678975 25678975 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 25678975 25678975 G C SNP ENSG00000233577 ENST00000444383 human ensembl 70_37 -1 putative rna NULL NULL 0.983 - - - no_errors RP3-462D8.2 Clone_based_vega_gene ENSG00000233577 29 6 17.14 59 0 0.00 ENSG00000233723 0 genome.wustl.edu 37 2 59290199 59290199 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 59290199 59290199 G A SNP ENSG00000233723 ENST00000452840 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors AC007092.1 Clone_based_vega_gene ENSG00000233723 49 28 36.36 37 0 0.00 ENSG00000233817 0 genome.wustl.edu 37 9 116382726 116382726 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 116382726 116382726 G T SNP ENSG00000233817 ENST00000437712 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-168K11.3 Clone_based_vega_gene ENSG00000233817 32 4 11.11 45 0 0.00 ENSG00000233836 0 genome.wustl.edu 37 19 24014497 24014497 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 24014497 24014497 G C SNP ENSG00000233836 ENST00000471224 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 15 7 31.82 26 0 0.00 ENSG00000233858 0 genome.wustl.edu 37 8 49503099 49503099 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 49503099 49503099 G A SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 24 8 25.00 32 0 0.00 ENSG00000233858 0 genome.wustl.edu 37 8 49503250 49503250 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 49503250 49503250 C T SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 19 10 34.48 37 0 0.00 ENSG00000233858 0 genome.wustl.edu 37 8 49504301 49504301 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 49504301 49504301 G A SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 35 4 10.26 53 0 0.00 ENSG00000233937 0 genome.wustl.edu 37 5 180684379 180684379 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 180684379 180684379 G A SNP ENSG00000233937 ENST00000417281 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 28 13 31.71 70 0 0.00 ENSG00000233937 0 genome.wustl.edu 37 5 180684510 180684510 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180684510 180684510 A G SNP ENSG00000233937 ENST00000417281 human ensembl 70_37 +1 putative rna NULL NULL 0.640 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 74 14 15.91 50 0 0.00 ENSG00000233973 0 genome.wustl.edu 37 1 73802686 73802686 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 73802686 73802686 G A SNP ENSG00000233973 ENST00000440762 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP4-598G3.1 Clone_based_vega_gene ENSG00000233973 9 8 44.44 22 0 0.00 ENSG00000233973 0 genome.wustl.edu 37 1 73802932 73802932 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 73802932 73802932 C T SNP ENSG00000233973 ENST00000440762 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-598G3.1 Clone_based_vega_gene ENSG00000233973 21 29 58.00 33 0 0.00 ENSG00000234083 0 genome.wustl.edu 37 21 29350361 29350361 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 29350361 29350361 C T SNP ENSG00000234083 ENST00000433344 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AJ006995.3 Clone_based_vega_gene ENSG00000234083 24 37 60.66 27 0 0.00 ENSG00000234117 0 genome.wustl.edu 37 6 116818055 116818055 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 116818055 116818055 C G SNP ENSG00000234117 ENST00000420595 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-259P20.1 Clone_based_vega_gene ENSG00000234117 50 15 23.08 43 0 0.00 ENSG00000234170 0 genome.wustl.edu 37 10 2488474 2488474 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 2488474 2488474 A T SNP ENSG00000234170 ENST00000414107 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-446F3.2 Clone_based_vega_gene ENSG00000234170 41 36 46.75 28 0 0.00 ENSG00000234184 0 genome.wustl.edu 37 1 81110022 81110022 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 81110022 81110022 C T SNP ENSG00000234184 ENST00000418041 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP5-887A10.1 Clone_based_vega_gene ENSG00000234184 30 19 38.78 36 0 0.00 ENSG00000234210 0 genome.wustl.edu 37 7 157261102 157261102 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 157261102 157261102 G A SNP ENSG00000234210 ENST00000444158 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC006372.4 Clone_based_vega_gene ENSG00000234210 67 41 37.96 37 0 0.00 ENSG00000234222 0 genome.wustl.edu 37 1 145507648 145507648 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 145507648 145507648 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.367 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000234222 43 15 25.86 28 0 0.00 ENSG00000234222 0 genome.wustl.edu 37 1 145507780 145507780 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 145507780 145507780 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.152 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000234222 55 24 30.38 41 0 0.00 ENSG00000234222 0 genome.wustl.edu 37 1 145507881 145507881 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 145507881 145507881 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000234222 19 5 20.83 13 0 0.00 ENSG00000234277 0 genome.wustl.edu 37 1 227618414 227618414 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 227618414 227618414 G A SNP ENSG00000234277 ENST00000445817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 57 19 25.00 77 0 0.00 ENSG00000234277 0 genome.wustl.edu 37 1 227618564 227618564 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 227618564 227618564 G C SNP ENSG00000234277 ENST00000445817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 25 4 13.79 35 0 0.00 ENSG00000234277 0 genome.wustl.edu 37 1 227618721 227618722 + RNA INS - - A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 1 227618721 227618722 - A INS ENSG00000234277 ENST00000445817 human ensembl 70_37 +1 known rna NULL NULL 0.127:0.163 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 18 3 14.29 8 0 0.00 ENSG00000234323 0 genome.wustl.edu 37 9 109262674 109262674 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 109262674 109262674 C A SNP ENSG00000234323 ENST00000435485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-308N19.1 Clone_based_vega_gene ENSG00000234323 60 31 34.07 35 0 0.00 ENSG00000234613 0 genome.wustl.edu 37 X 45772928 45772928 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 45772928 45772928 G A SNP ENSG00000234613 ENST00000420585 human ensembl 70_37 -1 known rna NULL NULL 0.896 - - - no_errors RP5-1158E12.1 Clone_based_vega_gene ENSG00000234613 6 4 40.00 12 0 0.00 ENSG00000234653 0 genome.wustl.edu 37 2 77236215 77236215 + RNA SNP A A T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 77236215 77236215 A T SNP ENSG00000234653 ENST00000445178 human ensembl 70_37 +1 known rna NULL NULL 0.650 - - - no_errors AC079117.1 Clone_based_vega_gene ENSG00000234653 38 35 47.95 31 0 0.00 ENSG00000234665 0 genome.wustl.edu 37 9 66513551 66513551 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 66513551 66513551 G C SNP ENSG00000234665 ENST00000586625 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 32 5 13.51 45 0 0.00 ENSG00000234678 0 genome.wustl.edu 37 1 201970279 201970279 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201970279 201970279 G C SNP ENSG00000234678 ENST00000415582 human ensembl 70_37 -1 known rna NULL NULL 0.976 - - - no_errors RP11-465N4.4 Clone_based_vega_gene ENSG00000234678 14 4 22.22 9 0 0.00 ENSG00000234718 0 genome.wustl.edu 37 7 7782017 7782017 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 7782017 7782017 G A SNP ENSG00000234718 ENST00000418534 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007161.5 Clone_based_vega_gene ENSG00000234718 32 26 44.83 67 0 0.00 ENSG00000234718 0 genome.wustl.edu 37 7 7782128 7782128 + RNA SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 7782128 7782128 C T SNP ENSG00000234718 ENST00000418534 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007161.5 Clone_based_vega_gene ENSG00000234718 15 9 37.50 34 0 0.00 ENSG00000234719 0 genome.wustl.edu 37 16 12027502 12027502 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 12027502 12027502 C G SNP ENSG00000234719 ENST00000399147 human ensembl 70_37 -1 putative silent c.360 p.L120 0.106 pfam_NPIP pfam_NPIP - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 239 122 33.61 204 0 0.00 ENSG00000234722 0 genome.wustl.edu 37 7 153110184 153110184 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 153110184 153110184 G A SNP ENSG00000234722 ENST00000416982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 56 23 29.11 72 0 0.00 ENSG00000234722 0 genome.wustl.edu 37 7 153110716 153110716 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 153110716 153110716 G A SNP ENSG00000234722 ENST00000416982 human ensembl 70_37 -1 known rna NULL NULL 0.353 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 27 6 18.18 39 0 0.00 ENSG00000234810 0 genome.wustl.edu 37 1 56197604 56197604 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 56197604 56197604 G C SNP ENSG00000234810 ENST00000422374 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP11-466L17.1 Clone_based_vega_gene ENSG00000234810 26 18 40.91 37 0 0.00 ENSG00000234814 0 genome.wustl.edu 37 10 30986417 30986417 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30986417 30986417 C T SNP ENSG00000234814 ENST00000435645 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RP11-14C22.4 Clone_based_vega_gene ENSG00000234814 39 16 29.09 77 0 0.00 ENSG00000234828 0 genome.wustl.edu 37 4 150354662 150354662 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 150354662 150354662 C G SNP ENSG00000234828 ENST00000506683 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-526A4.1 Clone_based_vega_gene ENSG00000234828 29 23 44.23 44 0 0.00 ENSG00000234864 0 genome.wustl.edu 37 10 43201866 43201867 + RNA INS - - T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 43201866 43201867 - T INS ENSG00000234864 ENST00000439913 human ensembl 70_37 +1 known rna NULL NULL 0.844:0.852 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 6 2 25.00 23 0 0.00 ENSG00000234928 0 genome.wustl.edu 37 22 23776135 23776135 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23776135 23776135 G T SNP ENSG00000234928 ENST00000449711 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP000344.3 Clone_based_vega_gene ENSG00000234928 30 4 11.76 29 0 0.00 ENSG00000234960 0 genome.wustl.edu 37 9 137476214 137476214 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 137476214 137476214 G A SNP ENSG00000234960 ENST00000423455 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-54A22.1 Clone_based_vega_gene ENSG00000234960 31 20 39.22 13 0 0.00 ENSG00000235077 0 genome.wustl.edu 37 7 99737962 99737962 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 99737962 99737962 G C SNP ENSG00000235077 ENST00000376482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC073842.19 Clone_based_vega_gene ENSG00000235077 19 7 26.92 31 0 0.00 ENSG00000235118 0 genome.wustl.edu 37 2 207513559 207513560 + RNA INS - - AT TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 207513559 207513560 - AT INS ENSG00000235118 ENST00000441223 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 14 8 36.36 22 0 0.00 ENSG00000235118 0 genome.wustl.edu 37 2 207513619 207513619 + RNA SNP C C T TCGA-C5-A2LV-01A-11D-A18J-09 TCGA-C5-A2LV-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3269608c-5dd7-452a-976a-31ac971aac2f 28fa35ae-f144-4ef0-918e-fe72471c8101 2 207513619 207513619 C T SNP ENSG00000235118 ENST00000441223 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 6 3 33.33 9 0 0.00 ENSG00000235118 0 genome.wustl.edu 37 2 207513828 207513828 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 207513828 207513828 C T SNP ENSG00000235118 ENST00000543490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 36 28 43.75 30 0 0.00 ENSG00000235121 0 genome.wustl.edu 37 1 201693808 201693808 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 201693808 201693808 C G SNP ENSG00000235121 ENST00000429443 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors RP11-90L20.2 Clone_based_vega_gene ENSG00000235121 21 14 40.00 45 0 0.00 ENSG00000235121 0 genome.wustl.edu 37 1 201693999 201693999 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 201693999 201693999 G T SNP ENSG00000235121 ENST00000429443 human ensembl 70_37 -1 known rna NULL NULL 0.972 - - - no_errors RP11-90L20.2 Clone_based_vega_gene ENSG00000235121 32 4 11.11 52 0 0.00 ENSG00000235242 0 genome.wustl.edu 37 2 114880821 114880821 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 114880821 114880821 G A SNP ENSG00000235242 ENST00000450325 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010982.2 Clone_based_vega_gene ENSG00000235242 24 13 35.14 24 0 0.00 ENSG00000235277 0 genome.wustl.edu 37 21 16290862 16290862 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 16290862 16290862 G T SNP ENSG00000235277 ENST00000430391 human ensembl 70_37 +1 known rna NULL NULL 0.933 - - - no_errors AF127577.8 Clone_based_vega_gene ENSG00000235277 37 25 40.32 30 0 0.00 ENSG00000235330 0 genome.wustl.edu 37 9 478095 478095 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 478095 478095 G A SNP ENSG00000235330 ENST00000598100 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-165F24.2 Clone_based_vega_gene ENSG00000235330 8 9 52.94 14 0 0.00 ENSG00000235343 0 genome.wustl.edu 37 22 17229222 17229223 + RNA DEL CC CC - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 17229222 17229223 CC - DEL ENSG00000235343 ENST00000422917 human ensembl 70_37 -1 known rna NULL NULL 0.027:0.027 - - - no_errors AC005301.8 Clone_based_vega_gene ENSG00000235343 4 2 33.33 9 0 0.00 ENSG00000235381 0 genome.wustl.edu 37 6 155575490 155575490 + RNA SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 155575490 155575490 G T SNP ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 16 4 20.00 26 0 0.00 ENSG00000235381 0 genome.wustl.edu 37 6 155575538 155575539 + RNA INS - - C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 155575538 155575539 - C INS ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 21 6 22.22 33 0 0.00 ENSG00000235381 0 genome.wustl.edu 37 6 155577153 155577154 + RNA INS - - AG TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 155577153 155577154 - AG INS ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 34 10 22.73 26 0 0.00 ENSG00000235426 0 genome.wustl.edu 37 10 81142152 81142152 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 81142152 81142152 C G SNP ENSG00000235426 ENST00000438554 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors RP11-342M3.5 Clone_based_vega_gene ENSG00000235426 43 10 18.87 46 0 0.00 ENSG00000235426 0 genome.wustl.edu 37 10 81142232 81142232 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 81142232 81142232 C T SNP ENSG00000235426 ENST00000438554 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-342M3.5 Clone_based_vega_gene ENSG00000235426 29 10 25.00 31 0 0.00 ENSG00000235522 0 genome.wustl.edu 37 2 106471800 106471800 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 106471800 106471800 C T SNP ENSG00000235522 ENST00000598281 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC009505.2 Clone_based_vega_gene ENSG00000235522 15 4 21.05 24 0 0.00 ENSG00000235566 0 genome.wustl.edu 37 1 143527557 143527557 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 143527557 143527557 C A SNP ENSG00000235566 ENST00000418607 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BX004987.7 Clone_based_vega_gene ENSG00000235566 49 11 18.33 25 0 0.00 ENSG00000235578 0 genome.wustl.edu 37 22 20331829 20331829 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20331829 20331829 C T SNP ENSG00000235578 ENST00000458154 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors XXbac-B33L19.4 Clone_based_vega_gene ENSG00000235578 12 5 29.41 16 0 0.00 ENSG00000235620 0 genome.wustl.edu 37 7 50315026 50315026 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 50315026 50315026 G A SNP ENSG00000235620 ENST00000440351 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC020743.4 Clone_based_vega_gene ENSG00000235620 16 24 60.00 34 0 0.00 ENSG00000235687 0 genome.wustl.edu 37 10 37598245 37598245 + RNA SNP T T A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 37598245 37598245 T A SNP ENSG00000235687 ENST00000426471 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-20F24.4 Clone_based_vega_gene ENSG00000235687 40 8 16.67 19 0 0.00 ENSG00000235704 0 genome.wustl.edu 37 22 20378434 20378434 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 22 20378434 20378434 G A SNP ENSG00000235704 ENST00000426653 human ensembl 70_37 +1 known rna NULL NULL 0.589 - - - no_errors AC023490.2 Clone_based_vega_gene ENSG00000235704 40 19 32.20 34 0 0.00 ENSG00000235834 0 genome.wustl.edu 37 X 17604191 17604191 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 17604191 17604191 C T SNP ENSG00000235834 ENST00000433228 human ensembl 70_37 +1 known rna NULL NULL 0.103 - - - no_errors RP1-60N8.1 Clone_based_vega_gene ENSG00000235834 14 11 44.00 21 0 0.00 ENSG00000235837 0 genome.wustl.edu 37 7 16737641 16737641 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 16737641 16737641 G A SNP ENSG00000235837 ENST00000418907 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC073333.8 Clone_based_vega_gene ENSG00000235837 52 30 36.59 58 0 0.00 ENSG00000235837 0 genome.wustl.edu 37 7 16737888 16737888 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 16737888 16737888 G C SNP ENSG00000235837 ENST00000418907 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC073333.8 Clone_based_vega_gene ENSG00000235837 42 6 12.50 29 0 0.00 ENSG00000235881 0 genome.wustl.edu 37 2 111469825 111469825 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 111469825 111469825 C G SNP ENSG00000235881 ENST00000414159 human ensembl 70_37 -1 known rna NULL NULL 0.412 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000235881 15 19 55.88 53 0 0.00 ENSG00000235881 0 genome.wustl.edu 37 2 111469895 111469895 + RNA SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 111469895 111469895 G C SNP ENSG00000235881 ENST00000414159 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000235881 78 12 13.33 92 0 0.00 ENSG00000235994 0 genome.wustl.edu 37 6 168376967 168376968 + RNA INS - - G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 6 168376967 168376968 - G INS ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.009:0.005 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 37 5 11.90 31 0 0.00 ENSG00000235994 0 genome.wustl.edu 37 6 168376968 168376969 + RNA INS - - G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 6 168376968 168376969 - G INS ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.007 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 37 5 11.90 31 0 0.00 ENSG00000235994 0 genome.wustl.edu 37 6 168377051 168377051 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 168377051 168377051 G C SNP ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.355 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 45 9 15.00 32 0 0.00 ENSG00000235994 0 genome.wustl.edu 37 6 168377064 168377064 + RNA SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 168377064 168377064 A G SNP ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.701 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 104 14 11.86 90 0 0.00 ENSG00000235999 0 genome.wustl.edu 37 1 149288052 149288052 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149288052 149288052 C G SNP ENSG00000235999 ENST00000433084 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 90 11 10.89 92 0 0.00 ENSG00000235999 0 genome.wustl.edu 37 1 149291295 149291295 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 149291295 149291295 G A SNP ENSG00000235999 ENST00000433084 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 22 7 24.14 26 0 0.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793515 67793515 + RNA SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 9 67793515 67793515 C T SNP ENSG00000236233 ENST00000315762 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 7 2 22.22 28 0 0.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793766 67793766 + RNA DEL A A - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 67793766 67793766 A - DEL ENSG00000236233 ENST00000315762 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 2 2 50.00 9 0 0.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793799 67793799 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 67793799 67793799 G C SNP ENSG00000236233 ENST00000315762 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 12 6 33.33 25 0 0.00 ENSG00000236255 0 genome.wustl.edu 37 2 118594091 118594091 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 118594091 118594091 G A SNP ENSG00000236255 ENST00000439955 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009404.2 Clone_based_vega_gene ENSG00000236255 40 7 14.89 23 0 0.00 ENSG00000236299 0 genome.wustl.edu 37 7 63353608 63353608 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 63353608 63353608 G C SNP ENSG00000236299 ENST00000433918 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-340I6.7 Clone_based_vega_gene ENSG00000236299 26 7 21.21 18 0 0.00 ENSG00000236358 0 genome.wustl.edu 37 1 234492770 234492770 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 234492770 234492770 G A SNP ENSG00000236358 ENST00000425104 human ensembl 70_37 +1 putative rna NULL NULL 0.995 - - - no_errors RP5-827C21.2 Clone_based_vega_gene ENSG00000236358 95 38 28.36 101 0 0.00 ENSG00000236372 0 genome.wustl.edu 37 1 232315327 232315327 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 232315327 232315327 A G SNP ENSG00000236372 ENST00000441459 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-865N13.1 Clone_based_vega_gene ENSG00000236372 54 9 14.29 51 0 0.00 ENSG00000236393 0 genome.wustl.edu 37 X 40122191 40122191 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 40122191 40122191 G C SNP ENSG00000236393 ENST00000452690 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-320G24.1 Clone_based_vega_gene ENSG00000236393 38 16 29.63 34 0 0.00 ENSG00000236467 0 genome.wustl.edu 37 10 78649349 78649349 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 78649349 78649349 G C SNP ENSG00000236467 ENST00000595702 human ensembl 70_37 +1 known rna NULL NULL 0.911 - - - no_errors RP11-443A13.5 Clone_based_vega_gene ENSG00000236467 56 12 17.65 67 0 0.00 ENSG00000236467 0 genome.wustl.edu 37 10 78649362 78649362 + RNA SNP T T C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 78649362 78649362 T C SNP ENSG00000236467 ENST00000595702 human ensembl 70_37 +1 known rna NULL NULL 0.276 - - - no_errors RP11-443A13.5 Clone_based_vega_gene ENSG00000236467 53 8 13.11 55 0 0.00 ENSG00000236634 0 genome.wustl.edu 37 2 205334846 205334846 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 205334846 205334846 C A SNP ENSG00000236634 ENST00000444017 human ensembl 70_37 -1 known rna NULL NULL 0.221 - - - no_errors AC016903.1 Clone_based_vega_gene ENSG00000236634 32 13 28.89 37 0 0.00 ENSG00000236653 0 genome.wustl.edu 37 2 199239323 199239323 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 199239323 199239323 G T SNP ENSG00000236653 ENST00000443261 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005235.1 Clone_based_vega_gene ENSG00000236653 34 21 38.18 23 0 0.00 ENSG00000236662 0 genome.wustl.edu 37 10 102745327 102745327 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 102745327 102745327 C A SNP ENSG00000236662 ENST00000447344 human ensembl 70_37 -1 putative rna NULL NULL 0.986 - - - no_errors RP11-108L7.4 Clone_based_vega_gene ENSG00000236662 16 10 38.46 57 0 0.00 ENSG00000236663 0 genome.wustl.edu 37 21 44560841 44560841 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 44560841 44560841 G A SNP ENSG00000236663 ENST00000424933 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001631.9 Clone_based_vega_gene ENSG00000236663 39 14 26.42 57 0 0.00 ENSG00000236837 0 genome.wustl.edu 37 2 52725890 52725890 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 52725890 52725890 C T SNP ENSG00000236837 ENST00000443926 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC139712.4 Clone_based_vega_gene ENSG00000236837 29 11 27.50 19 0 0.00 ENSG00000237017 0 genome.wustl.edu 37 19 54626824 54626824 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54626824 54626824 C T SNP ENSG00000237017 ENST00000452097 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 120 40 25.00 124 0 0.00 ENSG00000237017 0 genome.wustl.edu 37 19 54626824 54626824 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54626824 54626824 C T SNP ENSG00000237017 ENST00000452097 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 18 9 33.33 9 0 0.00 ENSG00000237224 0 genome.wustl.edu 37 10 131498927 131498927 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 131498927 131498927 G A SNP ENSG00000237224 ENST00000597245 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-109A6.2 Clone_based_vega_gene ENSG00000237224 22 40 64.52 42 0 0.00 ENSG00000237281 0 genome.wustl.edu 37 2 219215890 219215890 + RNA DEL T T - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219215890 219215890 T - DEL ENSG00000237281 ENST00000411433 human ensembl 70_37 -1 known rna NULL NULL 0.199 - - - no_errors AC021016.8 Clone_based_vega_gene ENSG00000237281 29 5 14.71 37 0 0.00 ENSG00000237291 0 genome.wustl.edu 37 1 143169688 143169688 + RNA SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 143169688 143169688 A C SNP ENSG00000237291 ENST00000424474 human ensembl 70_37 +1 known rna NULL NULL 0.061 - - - no_errors BX571672.4 Clone_based_vega_gene ENSG00000237291 3 7 70.00 8 0 0.00 ENSG00000237312 0 genome.wustl.edu 37 6 153625896 153625896 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 153625896 153625896 G T SNP ENSG00000237312 ENST00000436953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-475C16.2 Clone_based_vega_gene ENSG00000237312 20 3 13.04 27 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44402342 44402342 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 44402342 44402342 C T SNP ENSG00000237357 ENST00000435586 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 59 20 25.32 65 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44402547 44402547 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 44402547 44402547 G A SNP ENSG00000237357 ENST00000435586 human ensembl 70_37 +1 known rna NULL NULL 0.078 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 17 6 26.09 16 0 0.00 ENSG00000237357 0 genome.wustl.edu 37 9 44403103 44403103 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 44403103 44403103 C T SNP ENSG00000237357 ENST00000425309 human ensembl 70_37 +1 known rna NULL NULL 0.185 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 19 13 40.62 42 0 0.00 ENSG00000237452 0 genome.wustl.edu 37 19 46238634 46238634 + Splice_Site SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 46238634 46238634 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative splice_site c.1-1 e1-1 1.000 - - - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 46 55 54.46 98 0 0.00 ENSG00000237452 0 genome.wustl.edu 37 19 46238634 46238634 + Splice_Site SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 46238634 46238634 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative splice_site c.1-1 e1-1 1.000 - - - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 75 13 14.77 131 0 0.00 ENSG00000237452 0 genome.wustl.edu 37 19 46259260 46259260 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46259260 46259260 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative missense c.835 p.A279T 0.000 NULL pfam_HMG_superfamily,pfam_HLH_dom,superfamily_HMG_superfamily,superfamily_HLH_dom,smart_HMG_superfamily,pfscan_HLH_dom,pfscan_HMG_superfamily - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 74 12 13.95 82 0 0.00 ENSG00000237851 0 genome.wustl.edu 37 6 143109406 143109406 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 143109406 143109406 G T SNP ENSG00000237851 ENST00000454411 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP1-67K17.4 Clone_based_vega_gene ENSG00000237851 17 18 51.43 30 0 0.00 ENSG00000237921 0 genome.wustl.edu 37 7 19857692 19857692 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 19857692 19857692 G C SNP ENSG00000237921 ENST00000418764 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors AC004543.2 Clone_based_vega_gene ENSG00000237921 29 6 17.14 30 0 0.00 ENSG00000237937 0 genome.wustl.edu 37 11 116510247 116510247 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 116510247 116510247 G C SNP ENSG00000237937 ENST00000439483 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP000770.1 Clone_based_vega_gene ENSG00000237937 26 17 39.53 29 0 0.00 ENSG00000238009 0 genome.wustl.edu 37 1 133436 133436 + RNA SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 133436 133436 G C SNP ENSG00000238009 ENST00000453576 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-34P13.7 Clone_based_vega_gene ENSG00000238009 23 13 36.11 30 0 0.00 ENSG00000238021 0 genome.wustl.edu 37 10 27551888 27551888 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 27551888 27551888 C T SNP ENSG00000238021 ENST00000576034 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-748L13.1 Clone_based_vega_gene ENSG00000238021 9 5 35.71 13 0 0.00 ENSG00000238021 0 genome.wustl.edu 37 10 27551908 27551908 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 27551908 27551908 G C SNP ENSG00000238021 ENST00000576034 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-748L13.1 Clone_based_vega_gene ENSG00000238021 13 4 23.53 25 0 0.00 ENSG00000238039 0 genome.wustl.edu 37 X 148607378 148607378 + RNA SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 148607378 148607378 C T SNP ENSG00000238039 ENST00000370438 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors AF011889.2 Clone_based_vega_gene ENSG00000238039 31 14 31.11 52 0 0.00 ENSG00000238045 0 genome.wustl.edu 37 16 29821265 29821265 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29821265 29821265 G A SNP ENSG00000238045 ENST00000416168 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 48 15 23.81 45 0 0.00 ENSG00000238142 0 genome.wustl.edu 37 1 17215742 17215742 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 17215742 17215742 G A SNP ENSG00000238142 ENST00000422124 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors RP11-108M9.4 Clone_based_vega_gene ENSG00000238142 47 21 30.88 36 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143378008 143378008 + RNA SNP A A T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 143378008 143378008 A T SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 19 3 13.04 37 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143378154 143378154 + RNA SNP A A G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 143378154 143378154 A G SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 136 38 21.71 134 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143378289 143378289 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 143378289 143378289 G A SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 72 23 24.21 131 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143380503 143380503 + RNA SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 143380503 143380503 C T SNP ENSG00000238261 ENST00000423394 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 2 2 50.00 14 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143391835 143391835 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143391835 143391835 G T SNP ENSG00000238261 ENST00000412492 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 67 13 16.25 120 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143392513 143392513 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143392513 143392513 G T SNP ENSG00000238261 ENST00000415543 human ensembl 70_37 +1 known rna NULL NULL 0.429 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 180 30 14.29 288 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143398948 143398948 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 143398948 143398948 G A SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.157 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 25 3 10.71 38 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143398977 143398977 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 143398977 143398977 A G SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 20 10 33.33 19 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143398981 143398981 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 143398981 143398981 G A SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 2 3 60.00 8 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143399181 143399181 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 143399181 143399181 T G SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 31 11 26.19 16 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143401698 143401698 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 143401698 143401698 C T SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 0.824 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 35 6 14.63 26 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143403424 143403424 + RNA SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 143403424 143403424 G C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 9 5 35.71 22 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143403499 143403499 + RNA SNP A A C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 143403499 143403499 A C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 36 6 14.29 21 0 0.00 ENSG00000238261 0 genome.wustl.edu 37 1 143403499 143403499 + RNA SNP A A C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 143403499 143403499 A C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 7 4 36.36 9 0 0.00 ENSG00000238273 0 genome.wustl.edu 37 2 105994559 105994559 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 105994559 105994559 G C SNP ENSG00000238273 ENST00000457290 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012360.6 Clone_based_vega_gene ENSG00000238273 14 18 56.25 16 0 0.00 ENSG00000238290 0 genome.wustl.edu 37 1 8182160 8182160 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 8182160 8182160 C A SNP ENSG00000238290 ENST00000445300 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-431K24.1 Clone_based_vega_gene ENSG00000238290 31 4 11.43 37 0 0.00 ENSG00000238421 0 genome.wustl.edu 37 GL000192.1 545107 545107 + RNA SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e GL000192.1 545107 545107 T C SNP ENSG00000238421 ENST00000459549 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors U1 RFAM ENSG00000238421 4 4 50.00 9 0 0.00 ENSG00000238438 0 genome.wustl.edu 37 6 1186835 1186835 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 1186835 1186835 C T SNP ENSG00000238438 ENST00000459140 human ensembl 70_37 +1 novel rna NULL NULL 0.013 - - - no_errors snoU13 RFAM ENSG00000238438 28 30 51.72 39 0 0.00 ENSG00000238726 0 genome.wustl.edu 37 4 9025143 9025143 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 9025143 9025143 C G SNP ENSG00000238726 ENST00000408553 human ensembl 70_37 -1 novel rna NULL NULL 0.162 - - - no_errors AC073648.1 Clone_based_ensembl_gene ENSG00000238726 39 35 47.30 101 1 0.98 ENSG00000238818 0 genome.wustl.edu 37 1 16237454 16237454 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 16237454 16237454 C G SNP ENSG00000238818 ENST00000459258 human ensembl 70_37 +1 novel rna NULL NULL 0.007 - - - no_errors snoU13 RFAM ENSG00000238818 52 6 10.34 38 0 0.00 ENSG00000238827 0 genome.wustl.edu 37 3 13779617 13779617 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 13779617 13779617 G T SNP ENSG00000238827 ENST00000408341 human ensembl 70_37 -1 novel rna NULL NULL 0.218 - - - no_errors AC093611.1 Clone_based_ensembl_gene ENSG00000238827 14 3 17.65 20 0 0.00 ENSG00000238994 0 genome.wustl.edu 37 9 140315619 140315619 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140315619 140315619 G A SNP ENSG00000238994 ENST00000458861 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors snoU13 RFAM ENSG00000238994 42 7 14.29 22 0 0.00 ENSG00000239056 0 genome.wustl.edu 37 22 37344547 37344547 + RNA SNP T T C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 37344547 37344547 T C SNP ENSG00000239056 ENST00000459547 human ensembl 70_37 +1 novel rna NULL NULL 0.334 - - - no_errors snoU13 RFAM ENSG00000239056 8 3 27.27 19 0 0.00 ENSG00000239128 0 genome.wustl.edu 37 3 47292016 47292016 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 47292016 47292016 C A SNP ENSG00000239128 ENST00000459492 human ensembl 70_37 -1 novel rna NULL NULL 0.099 - - - no_errors snoU13 RFAM ENSG00000239128 13 8 38.10 22 0 0.00 ENSG00000239235 0 genome.wustl.edu 37 2 54198225 54198225 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 54198225 54198225 G A SNP ENSG00000239235 ENST00000458030 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008280.5 Clone_based_vega_gene ENSG00000239235 19 26 57.78 13 0 0.00 ENSG00000239235 0 genome.wustl.edu 37 2 54198339 54198339 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 54198339 54198339 G C SNP ENSG00000239235 ENST00000422521 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008280.5 Clone_based_vega_gene ENSG00000239235 17 21 55.26 14 0 0.00 ENSG00000239322 0 genome.wustl.edu 37 2 71175371 71175374 + RNA DEL TTTT TTTT - TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 2 71175371 71175374 TTTT - DEL ENSG00000239322 ENST00000422761 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.002 - - - no_errors AC007040.7 Clone_based_vega_gene ENSG00000239322 8 5 38.46 9 0 0.00 ENSG00000239395 0 genome.wustl.edu 37 1 247886380 247886380 + RNA SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 247886380 247886380 C G SNP ENSG00000239395 ENST00000426444 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-634B7.5 Clone_based_vega_gene ENSG00000239395 58 22 27.50 57 0 0.00 ENSG00000239466 0 genome.wustl.edu 37 4 85609036 85609036 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 85609036 85609036 C T SNP ENSG00000239466 ENST00000462094 human ensembl 70_37 -1 novel rna NULL NULL 0.005 - - - no_errors Metazoa_SRP RFAM ENSG00000239466 1 4 80.00 10 0 0.00 ENSG00000239471 0 genome.wustl.edu 37 15 20301149 20301149 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 20301149 20301149 G A SNP ENSG00000239471 ENST00000492309 human ensembl 70_37 -1 novel rna NULL NULL 0.078 - - - no_errors Metazoa_SRP RFAM ENSG00000239471 151 24 13.71 99 0 0.00 ENSG00000239569 0 genome.wustl.edu 37 7 104653894 104653894 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 104653894 104653894 G C SNP ENSG00000239569 ENST00000453677 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RP11-325F22.4 Clone_based_vega_gene ENSG00000239569 57 21 26.92 56 0 0.00 ENSG00000239569 0 genome.wustl.edu 37 7 104654142 104654142 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 104654142 104654142 C T SNP ENSG00000239569 ENST00000453677 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-325F22.4 Clone_based_vega_gene ENSG00000239569 22 18 45.00 24 0 0.00 ENSG00000239636 0 genome.wustl.edu 37 1 36043012 36043012 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36043012 36043012 G A SNP ENSG00000239636 ENST00000444348 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP4-728D4.2 Clone_based_vega_gene ENSG00000239636 45 16 26.23 37 0 0.00 ENSG00000239642 0 genome.wustl.edu 37 5 131269277 131269277 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 131269277 131269277 G C SNP ENSG00000239642 ENST00000425320 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 40 19 32.20 81 0 0.00 ENSG00000239642 0 genome.wustl.edu 37 5 131280423 131280423 + RNA SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 5 131280423 131280423 C G SNP ENSG00000239642 ENST00000411822 human ensembl 70_37 -1 known rna NULL NULL 0.747 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 11 38 77.55 77 0 0.00 ENSG00000239665 0 genome.wustl.edu 37 10 13685712 13685712 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 13685712 13685712 C T SNP ENSG00000239665 ENST00000600249 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-295P9.3 Clone_based_vega_gene ENSG00000239665 34 9 20.93 49 0 0.00 ENSG00000239739 0 genome.wustl.edu 37 3 170458280 170458280 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170458280 170458280 C A SNP ENSG00000239739 ENST00000473110 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-373E16.4 Clone_based_vega_gene ENSG00000239739 32 24 42.86 33 0 0.00 ENSG00000239791 0 genome.wustl.edu 37 16 30593147 30593147 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30593147 30593147 G T SNP ENSG00000239791 ENST00000486926 human ensembl 70_37 +1 known rna NULL NULL 0.207 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000239791 32 4 11.11 40 0 0.00 ENSG00000239791 0 genome.wustl.edu 37 16 30594797 30594797 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30594797 30594797 C T SNP ENSG00000239791 ENST00000492040 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000239791 36 13 26.53 57 0 0.00 ENSG00000239953 0 genome.wustl.edu 37 6 37329002 37329002 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 37329002 37329002 G C SNP ENSG00000239953 ENST00000481561 human ensembl 70_37 +1 novel rna NULL NULL 0.004 - - - no_errors Metazoa_SRP RFAM ENSG00000239953 13 3 18.75 22 0 0.00 ENSG00000240338 0 genome.wustl.edu 37 16 75260568 75260568 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 75260568 75260568 C T SNP ENSG00000240338 ENST00000489723 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-331F4.4 Clone_based_vega_gene ENSG00000240338 40 15 27.27 82 0 0.00 ENSG00000240338 0 genome.wustl.edu 37 16 75260587 75260587 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 75260587 75260587 G A SNP ENSG00000240338 ENST00000489723 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors RP11-331F4.4 Clone_based_vega_gene ENSG00000240338 47 13 21.67 64 0 0.00 ENSG00000240401 0 genome.wustl.edu 37 2 55556696 55556696 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 55556696 55556696 C T SNP ENSG00000240401 ENST00000599352 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000240401 44 8 15.38 37 0 0.00 ENSG00000240401 0 genome.wustl.edu 37 2 55566942 55566942 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55566942 55566942 G T SNP ENSG00000240401 ENST00000599475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000240401 3 4 57.14 11 0 0.00 ENSG00000240529 0 genome.wustl.edu 37 22 31833158 31833158 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31833158 31833158 G A SNP ENSG00000240529 ENST00000441289 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-247I13.7 Clone_based_vega_gene ENSG00000240529 28 4 12.50 23 0 0.00 ENSG00000240553 0 genome.wustl.edu 37 1 23346978 23346979 + RNA INS - - T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23346978 23346979 - T INS ENSG00000240553 ENST00000427154 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RP1-184J9.2 Clone_based_vega_gene ENSG00000240553 49 7 12.50 26 0 0.00 ENSG00000241163 0 genome.wustl.edu 37 3 72085412 72085412 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 72085412 72085412 G T SNP ENSG00000241163 ENST00000468646 human ensembl 70_37 -1 known rna NULL NULL 0.356 - - - no_errors RP11-398A8.3 Clone_based_vega_gene ENSG00000241163 32 4 11.11 39 0 0.00 ENSG00000241316 0 genome.wustl.edu 37 3 67800324 67800324 + RNA SNP A A C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 67800324 67800324 A C SNP ENSG00000241316 ENST00000496640 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-81N13.1 Clone_based_vega_gene ENSG00000241316 20 7 25.93 26 0 0.00 ENSG00000241345 0 genome.wustl.edu 37 7 123666723 123666724 + RNA INS - - T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 123666723 123666724 - T INS ENSG00000241345 ENST00000472838 human ensembl 70_37 +1 known rna NULL NULL 0.031:0.043 - - - no_errors RP4-630C24.3 Clone_based_vega_gene ENSG00000241345 48 6 11.11 38 0 0.00 ENSG00000241431 0 genome.wustl.edu 37 8 57501152 57501152 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 57501152 57501152 C T SNP ENSG00000241431 ENST00000464216 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-17A4.1 Clone_based_vega_gene ENSG00000241431 17 9 34.62 20 0 0.00 ENSG00000241764 0 genome.wustl.edu 37 7 107384958 107384958 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 107384958 107384958 G A SNP ENSG00000241764 ENST00000423845 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002467.7 Clone_based_vega_gene ENSG00000241764 39 13 25.00 23 0 0.00 ENSG00000241769 0 genome.wustl.edu 37 X 148615669 148615669 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad X 148615669 148615669 C T SNP ENSG00000241769 ENST00000431214 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF011889.4 Clone_based_vega_gene ENSG00000241769 15 6 28.57 42 0 0.00 ENSG00000241769 0 genome.wustl.edu 37 X 148615815 148615815 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 148615815 148615815 C T SNP ENSG00000241769 ENST00000431214 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AF011889.4 Clone_based_vega_gene ENSG00000241769 45 34 43.04 86 0 0.00 ENSG00000241770 0 genome.wustl.edu 37 3 156881249 156881249 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 156881249 156881249 C G SNP ENSG00000241770 ENST00000480817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-555M1.3 Clone_based_vega_gene ENSG00000241770 40 7 14.89 26 0 0.00 ENSG00000242082 0 genome.wustl.edu 37 22 32665566 32665566 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 32665566 32665566 C G SNP ENSG00000242082 ENST00000434942 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP1-90G24.10 Clone_based_vega_gene ENSG00000242082 4 6 60.00 15 0 0.00 ENSG00000242154 0 genome.wustl.edu 37 7 104946702 104946702 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 104946702 104946702 G A SNP ENSG00000242154 ENST00000476569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-778K6.3 Clone_based_vega_gene ENSG00000242154 7 5 41.67 8 0 0.00 ENSG00000242193 0 genome.wustl.edu 37 1 178006533 178006533 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 178006533 178006533 C G SNP ENSG00000242193 ENST00000481349 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 30 42 58.33 34 0 0.00 ENSG00000242443 0 genome.wustl.edu 37 15 20776282 20776282 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 20776282 20776282 C T SNP ENSG00000242443 ENST00000485130 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000242443 9 5 35.71 16 0 0.00 ENSG00000242444 0 genome.wustl.edu 37 12 4219339 4219339 + RNA SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 4219339 4219339 G T SNP ENSG00000242444 ENST00000393388 human ensembl 70_37 -1 putative rna NULL NULL 0.475 - - - no_errors RP11-320N7.1 Clone_based_vega_gene ENSG00000242444 12 3 20.00 25 0 0.00 ENSG00000242569 0 genome.wustl.edu 37 1 143378941 143378941 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 143378941 143378941 C G SNP ENSG00000242569 ENST00000431621 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors BX004987.3 Clone_based_vega_gene ENSG00000242569 85 13 13.27 63 0 0.00 ENSG00000242653 0 genome.wustl.edu 37 7 34793237 34793237 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 34793237 34793237 G C SNP ENSG00000242653 ENST00000478131 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000242653 40 8 16.67 35 0 0.00 ENSG00000242663 0 genome.wustl.edu 37 1 149754593 149754593 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 149754593 149754593 G C SNP ENSG00000242663 ENST00000420462 human ensembl 70_37 -1 putative rna NULL NULL 0.120 - - - no_errors RP11-196G18.21 Clone_based_vega_gene ENSG00000242663 8 11 57.89 12 0 0.00 ENSG00000242663 0 genome.wustl.edu 37 1 149754599 149754599 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 149754599 149754599 G C SNP ENSG00000242663 ENST00000420462 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-196G18.21 Clone_based_vega_gene ENSG00000242663 10 5 33.33 15 0 0.00 ENSG00000242687 0 genome.wustl.edu 37 7 98633342 98633342 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 98633342 98633342 G A SNP ENSG00000242687 ENST00000360902 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 15 7 31.82 24 0 0.00 ENSG00000242688 0 genome.wustl.edu 37 1 20297702 20297702 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 20297702 20297702 G A SNP ENSG00000242688 ENST00000488028 human ensembl 70_37 +1 novel rna NULL NULL 0.073 - - - no_errors Metazoa_SRP RFAM ENSG00000242688 40 9 18.37 28 0 0.00 ENSG00000242959 0 genome.wustl.edu 37 1 120144049 120144049 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 120144049 120144049 G A SNP ENSG00000242959 ENST00000450675 human ensembl 70_37 +1 putative rna NULL NULL 0.791 - - - no_errors RP4-599G15.3 Clone_based_vega_gene ENSG00000242959 77 25 24.51 124 0 0.00 ENSG00000242962 0 genome.wustl.edu 37 15 23443813 23443813 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 23443813 23443813 C T SNP ENSG00000242962 ENST00000488468 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors Metazoa_SRP RFAM ENSG00000242962 13 5 27.78 14 0 0.00 ENSG00000242962 0 genome.wustl.edu 37 15 23443813 23443813 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 23443813 23443813 C T SNP ENSG00000242962 ENST00000488468 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors Metazoa_SRP RFAM ENSG00000242962 14 8 36.36 17 0 0.00 ENSG00000243155 0 genome.wustl.edu 37 1 180913457 180913457 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 180913457 180913457 G A SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000243155 41 9 18.00 47 0 0.00 ENSG00000243155 0 genome.wustl.edu 37 1 180913468 180913468 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 180913468 180913468 C G SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000243155 67 14 17.28 67 0 0.00 ENSG00000243155 0 genome.wustl.edu 37 1 180945579 180945579 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 180945579 180945579 G A SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.068 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000243155 53 20 25.97 52 0 0.00 ENSG00000243175 0 genome.wustl.edu 37 4 144346441 144346441 + RNA SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 4 144346441 144346441 G C SNP ENSG00000243175 ENST00000494591 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-58H15.1 Clone_based_vega_gene ENSG00000243175 32 10 23.81 42 0 0.00 ENSG00000243273 0 genome.wustl.edu 37 3 150608642 150608642 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 150608642 150608642 C T SNP ENSG00000243273 ENST00000469268 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-166N6.2 Clone_based_vega_gene ENSG00000243273 28 4 12.50 26 0 0.00 ENSG00000243305 0 genome.wustl.edu 37 3 152175738 152175738 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 152175738 152175738 G T SNP ENSG00000243305 ENST00000463255 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-362A9.3 Clone_based_vega_gene ENSG00000243305 35 6 14.63 19 0 0.00 ENSG00000243321 0 genome.wustl.edu 37 3 149795466 149795466 + RNA SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 149795466 149795466 A C SNP ENSG00000243321 ENST00000464673 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-167H9.3 Clone_based_vega_gene ENSG00000243321 22 8 26.67 32 0 0.00 ENSG00000243347 0 genome.wustl.edu 37 3 147913586 147913587 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 147913586 147913587 - A INS ENSG00000243347 ENST00000460324 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-501O2.4 Clone_based_vega_gene ENSG00000243347 27 3 10.00 17 0 0.00 ENSG00000243536 0 genome.wustl.edu 37 10 47634765 47634765 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 47634765 47634765 G A SNP ENSG00000243536 ENST00000454837 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-292F22.6 Clone_based_vega_gene ENSG00000243536 36 33 47.83 59 0 0.00 ENSG00000243536 0 genome.wustl.edu 37 10 47640061 47640061 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 47640061 47640061 C A SNP ENSG00000243536 ENST00000543148 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-292F22.6 Clone_based_vega_gene ENSG00000243536 32 4 11.11 57 0 0.00 ENSG00000243613 0 genome.wustl.edu 37 1 153719426 153719426 + RNA SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 153719426 153719426 C T SNP ENSG00000243613 ENST00000453778 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-216N14.8 Clone_based_vega_gene ENSG00000243613 75 25 25.00 68 0 0.00 ENSG00000243636 0 genome.wustl.edu 37 1 207355982 207355982 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 207355982 207355982 G A SNP ENSG00000243636 ENST00000442684 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors RP11-164O23.7 Clone_based_vega_gene ENSG00000243636 29 12 29.27 51 0 0.00 ENSG00000243902 0 genome.wustl.edu 37 22 37771911 37771911 + RNA SNP G G C TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 22 37771911 37771911 G C SNP ENSG00000243902 ENST00000414347 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors RP1-63G5.5 Clone_based_vega_gene ENSG00000243902 14 6 30.00 14 0 0.00 ENSG00000244056 0 genome.wustl.edu 37 15 84948780 84948780 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 84948780 84948780 G A SNP ENSG00000244056 ENST00000459938 human ensembl 70_37 +1 novel rna NULL NULL 0.050 - - - no_errors Metazoa_SRP RFAM ENSG00000244056 99 72 42.11 185 0 0.00 ENSG00000244117 0 genome.wustl.edu 37 7 63539443 63539443 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 63539443 63539443 G A SNP ENSG00000244117 ENST00000430271 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-3N2.1 Clone_based_vega_gene ENSG00000244117 13 8 38.10 26 0 0.00 ENSG00000244137 0 genome.wustl.edu 37 1 230931123 230931123 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 230931123 230931123 G C SNP ENSG00000244137 ENST00000412344 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-99J16__A.2 Clone_based_vega_gene ENSG00000244137 6 8 57.14 11 0 0.00 ENSG00000244198 0 genome.wustl.edu 37 7 143977598 143977598 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 143977598 143977598 T C SNP ENSG00000244198 ENST00000460955 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-545C24.1 Clone_based_vega_gene ENSG00000244198 4 3 42.86 10 0 0.00 ENSG00000244227 0 genome.wustl.edu 37 3 167621185 167621185 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 167621185 167621185 C T SNP ENSG00000244227 ENST00000459923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 37 7 15.91 66 0 0.00 ENSG00000244260 0 genome.wustl.edu 37 2 9814184 9814184 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 9814184 9814184 G A SNP ENSG00000244260 ENST00000483023 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-521D12.2 Clone_based_vega_gene ENSG00000244260 25 7 21.88 21 0 0.00 ENSG00000244327 0 genome.wustl.edu 37 3 142184160 142184160 + RNA SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 142184160 142184160 A C SNP ENSG00000244327 ENST00000460977 human ensembl 70_37 -1 putative rna NULL NULL 0.429 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 30 6 16.67 39 0 0.00 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 19 3 13.64 27 0 0.00 ENSG00000244380 0 genome.wustl.edu 37 3 48482224 48482224 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 48482224 48482224 G C SNP ENSG00000244380 ENST00000435578 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-24C3.2 Clone_based_vega_gene ENSG00000244380 13 21 61.76 38 0 0.00 ENSG00000244513 0 genome.wustl.edu 37 3 69066043 69066043 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 69066043 69066043 G T SNP ENSG00000244513 ENST00000596659 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2013N24.2 Clone_based_vega_gene ENSG00000244513 26 4 13.33 28 0 0.00 ENSG00000244550 0 genome.wustl.edu 37 7 62694086 62694086 + RNA SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 7 62694086 62694086 G A SNP ENSG00000244550 ENST00000451381 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RP5-905H7.3 Clone_based_vega_gene ENSG00000244550 18 4 18.18 20 0 0.00 ENSG00000244612 0 genome.wustl.edu 37 15 74364978 74364978 + RNA SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 74364978 74364978 G A SNP ENSG00000244612 ENST00000479090 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000244612 42 5 10.64 54 0 0.00 ENSG00000244625 0 genome.wustl.edu 37 22 27176082 27176082 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 27176082 27176082 T C SNP ENSG00000244625 ENST00000437071 human ensembl 70_37 +1 known rna NULL NULL 0.812 - - - no_errors CTA-211A9.5 Clone_based_vega_gene ENSG00000244625 39 28 41.79 32 0 0.00 ENSG00000244681 0 genome.wustl.edu 37 3 95374193 95374193 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 95374193 95374193 C G SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000244681 16 3 15.79 19 0 0.00 ENSG00000244681 0 genome.wustl.edu 37 3 95374279 95374279 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 95374279 95374279 C G SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000244681 1 12 92.31 22 0 0.00 ENSG00000244681 0 genome.wustl.edu 37 3 95374458 95374458 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 95374458 95374458 G T SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000244681 19 7 26.92 16 0 0.00 ENSG00000244681 0 genome.wustl.edu 37 3 95382135 95382135 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 95382135 95382135 G A SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000244681 22 21 48.84 20 0 0.00 ENSG00000244701 0 genome.wustl.edu 37 7 141356441 141356441 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 141356441 141356441 C T SNP ENSG00000244701 ENST00000467537 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP5-894A10.2 Clone_based_vega_gene ENSG00000244701 24 7 22.58 18 0 0.00 ENSG00000244758 0 genome.wustl.edu 37 7 19834 19834 + RNA SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 19834 19834 C G SNP ENSG00000244758 ENST00000480075 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC093627.6 Clone_based_vega_gene ENSG00000244758 4 3 42.86 13 0 0.00 ENSG00000244758 0 genome.wustl.edu 37 7 31117 31117 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 31117 31117 G A SNP ENSG00000244758 ENST00000469418 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors AC093627.6 Clone_based_vega_gene ENSG00000244758 41 25 37.88 50 0 0.00 ENSG00000245156 0 genome.wustl.edu 37 11 66039436 66039436 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 66039436 66039436 G C SNP ENSG00000245156 ENST00000501708 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 44 13 22.81 31 0 0.00 ENSG00000245281 0 genome.wustl.edu 37 8 17944402 17944402 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 17944402 17944402 G A SNP ENSG00000245281 ENST00000499554 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors CTD-2547L16.1 Clone_based_vega_gene ENSG00000245281 7 3 30.00 33 0 0.00 ENSG00000245317 0 genome.wustl.edu 37 5 179287538 179287538 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179287538 179287538 C G SNP ENSG00000245317 ENST00000499601 human ensembl 70_37 +1 putative missense c.229 p.Q77E 0.002 NULL NULL - no_errors CTC-241N9.1 Clone_based_vega_gene ENSG00000245317 30 23 43.40 29 0 0.00 ENSG00000245482 0 genome.wustl.edu 37 12 34176752 34176752 + RNA SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 34176752 34176752 C G SNP ENSG00000245482 ENST00000501954 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 13 9 40.91 37 0 0.00 ENSG00000245685 0 genome.wustl.edu 37 4 190860985 190860986 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 190860985 190860986 - T INS ENSG00000245685 ENST00000501825 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors AF146191.4 Clone_based_vega_gene ENSG00000245685 106 13 10.92 51 0 0.00 ENSG00000246084 0 genome.wustl.edu 37 14 97932873 97932873 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 97932873 97932873 C T SNP ENSG00000246084 ENST00000554260 human ensembl 70_37 +1 known rna NULL NULL 0.138 - - - no_errors CTD-2506J14.1 Clone_based_vega_gene ENSG00000246084 30 10 25.00 34 0 0.00 ENSG00000246250 0 genome.wustl.edu 37 11 43852428 43852428 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 43852428 43852428 C T SNP ENSG00000246250 ENST00000499066 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-613D13.5 Clone_based_vega_gene ENSG00000246250 17 9 34.62 34 0 0.00 ENSG00000246331 0 genome.wustl.edu 37 12 30932397 30932397 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 30932397 30932397 C G SNP ENSG00000246331 ENST00000500076 human ensembl 70_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-77I22.2 Clone_based_vega_gene ENSG00000246331 40 7 14.89 30 0 0.00 ENSG00000246528 0 genome.wustl.edu 37 8 70749154 70749154 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 70749154 70749154 G A SNP ENSG00000246528 ENST00000501104 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-159H10.3 Clone_based_vega_gene ENSG00000246528 23 27 54.00 33 0 0.00 ENSG00000246774 0 genome.wustl.edu 37 4 110236384 110236384 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 110236384 110236384 G A SNP ENSG00000246774 ENST00000500526 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors AC004051.2 Clone_based_vega_gene ENSG00000246774 18 18 50.00 31 0 0.00 ENSG00000247033 0 genome.wustl.edu 37 16 75142719 75142719 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 75142719 75142719 C T SNP ENSG00000247033 ENST00000499110 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-252E2.1 Clone_based_vega_gene ENSG00000247033 24 14 36.84 58 0 0.00 ENSG00000247121 0 genome.wustl.edu 37 5 96271297 96271297 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 96271297 96271297 G A SNP ENSG00000247121 ENST00000501338 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2260A17.2 Clone_based_vega_gene ENSG00000247121 20 17 45.95 50 0 0.00 ENSG00000247416 0 genome.wustl.edu 37 11 112830504 112830504 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 112830504 112830504 G C SNP ENSG00000247416 ENST00000500537 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-629G13.1 Clone_based_vega_gene ENSG00000247416 46 19 29.23 47 0 0.00 ENSG00000247877 0 genome.wustl.edu 37 5 99785854 99785854 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 99785854 99785854 C A SNP ENSG00000247877 ENST00000499025 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CTD-2001C12.1 Clone_based_vega_gene ENSG00000247877 20 4 16.67 45 0 0.00 ENSG00000248015 0 genome.wustl.edu 37 19 1393525 1393525 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 1393525 1393525 C T SNP ENSG00000248015 ENST00000501448 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005329.7 Clone_based_vega_gene ENSG00000248015 7 5 41.67 8 0 0.00 ENSG00000248152 0 genome.wustl.edu 37 4 113993054 113993054 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 113993054 113993054 C T SNP ENSG00000248152 ENST00000508959 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-650J17.1 Clone_based_vega_gene ENSG00000248152 34 38 52.05 31 0 0.00 ENSG00000248174 0 genome.wustl.edu 37 4 175018830 175018830 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175018830 175018830 G A SNP ENSG00000248174 ENST00000515444 human ensembl 70_37 -1 known rna NULL NULL 0.311 - - - no_errors RP11-148L24.1 Clone_based_vega_gene ENSG00000248174 42 10 19.23 39 0 0.00 ENSG00000248187 0 genome.wustl.edu 37 4 129490319 129490319 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 129490319 129490319 C T SNP ENSG00000248187 ENST00000514265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-184M15.1 Clone_based_vega_gene ENSG00000248187 52 10 16.13 26 0 0.00 ENSG00000248302 0 genome.wustl.edu 37 4 49846 49846 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 49846 49846 C T SNP ENSG00000248302 ENST00000596885 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors Z95704.4 Clone_based_vega_gene ENSG00000248302 4 4 50.00 10 0 0.00 ENSG00000248339 0 genome.wustl.edu 37 4 172214950 172214950 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172214950 172214950 G C SNP ENSG00000248339 ENST00000512241 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-717H13.1 Clone_based_vega_gene ENSG00000248339 27 19 41.30 39 0 0.00 ENSG00000248343 0 genome.wustl.edu 37 4 21699107 21699109 + RNA DEL AAT AAT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 4 21699107 21699109 AAT - DEL ENSG00000248343 ENST00000511835 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.976:0.554 - - - no_errors RP11-556G22.2 Clone_based_vega_gene ENSG00000248343 21 3 12.50 21 0 0.00 ENSG00000248356 0 genome.wustl.edu 37 4 146563766 146563766 + RNA SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 146563766 146563766 C T SNP ENSG00000248356 ENST00000504555 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-557J10.4 Clone_based_vega_gene ENSG00000248356 13 18 58.06 26 0 0.00 ENSG00000248416 0 genome.wustl.edu 37 4 716118 716118 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 716118 716118 G T SNP ENSG00000248416 ENST00000502923 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-1191J2.4 Clone_based_vega_gene ENSG00000248416 29 4 12.12 23 0 0.00 ENSG00000248464 0 genome.wustl.edu 37 5 44413408 44413408 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 44413408 44413408 C A SNP ENSG00000248464 ENST00000502457 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-473L15.2 Clone_based_vega_gene ENSG00000248464 73 9 10.84 30 0 0.00 ENSG00000248464 0 genome.wustl.edu 37 5 44413408 44413409 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 44413408 44413409 - A INS ENSG00000248464 ENST00000502457 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-473L15.2 Clone_based_vega_gene ENSG00000248464 14 2 12.50 26 0 0.00 ENSG00000248540 0 genome.wustl.edu 37 15 74420858 74420858 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 74420858 74420858 C T SNP ENSG00000248540 ENST00000514871 human ensembl 70_37 -1 putative missense c.235 p.E79K 0.000 NULL NULL - no_errors RP11-247C2.2 Clone_based_vega_gene ENSG00000248540 29 15 34.09 48 0 0.00 ENSG00000248540 0 genome.wustl.edu 37 15 74421007 74421008 + Frame_Shift_Ins INS - - G TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 15 74421007 74421008 - G INS ENSG00000248540 ENST00000563727 human ensembl 70_37 -1 putative frame_shift_ins c.71_70 p.R24fs 0.000:0.000 NULL NULL - no_errors RP11-247C2.2 Clone_based_vega_gene ENSG00000248540 5 2 28.57 8 0 0.00 ENSG00000248540 0 genome.wustl.edu 37 15 74421382 74421382 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 74421382 74421382 C T SNP ENSG00000248540 ENST00000514871 human ensembl 70_37 -1 putative silent c.51 p.S17 0.000 NULL NULL - no_errors RP11-247C2.2 Clone_based_vega_gene ENSG00000248540 7 11 61.11 54 0 0.00 ENSG00000248603 0 genome.wustl.edu 37 22 31500253 31500253 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 31500253 31500253 G A SNP ENSG00000248603 ENST00000504335 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP3-412A9.10 Clone_based_vega_gene ENSG00000248603 23 13 36.11 44 0 0.00 ENSG00000248666 0 genome.wustl.edu 37 9 130455518 130455518 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 130455518 130455518 G A SNP ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000248666 33 19 36.54 45 0 0.00 ENSG00000248666 0 genome.wustl.edu 37 9 130457332 130457333 + RNA INS - - TGA TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 130457332 130457333 - TGA INS ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000248666 20 5 20.00 26 0 0.00 ENSG00000248666 0 genome.wustl.edu 37 9 130457376 130457376 + RNA SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 130457376 130457376 G A SNP ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000248666 54 24 30.77 15 0 0.00 ENSG00000248710 0 genome.wustl.edu 37 3 159986236 159986236 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 159986236 159986236 C T SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known missense c.2701 p.E901K 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENSG00000248710 50 11 18.03 55 0 0.00 ENSG00000248710 0 genome.wustl.edu 37 3 159995098 159995098 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 159995098 159995098 C A SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known nonsense c.2608 p.E870* 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENSG00000248710 35 10 22.22 41 0 0.00 ENSG00000248710 0 genome.wustl.edu 37 3 160156451 160156451 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 160156451 160156451 G A SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known missense c.521 p.S174F 0.915 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENSG00000248710 23 14 37.84 26 0 0.00 ENSG00000248839 0 genome.wustl.edu 37 3 98241652 98241652 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 98241652 98241652 G A SNP ENSG00000248839 ENST00000502999 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-227H4.5 Clone_based_vega_gene ENSG00000248839 74 22 22.92 55 0 0.00 ENSG00000248869 0 genome.wustl.edu 37 4 137719287 137719287 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 137719287 137719287 G A SNP ENSG00000248869 ENST00000505736 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-138I17.1 Clone_based_vega_gene ENSG00000248869 34 25 42.37 27 0 0.00 ENSG00000249007 0 genome.wustl.edu 37 1 201984068 201984068 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 201984068 201984068 C T SNP ENSG00000249007 ENST00000504773 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-510N19.5 Clone_based_vega_gene ENSG00000249007 35 32 47.76 21 0 0.00 ENSG00000249007 0 genome.wustl.edu 37 1 201984155 201984155 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201984155 201984155 G T SNP ENSG00000249007 ENST00000504773 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-510N19.5 Clone_based_vega_gene ENSG00000249007 9 6 40.00 13 0 0.00 ENSG00000249034 0 genome.wustl.edu 37 5 140242427 140242427 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140242427 140242427 G A SNP ENSG00000249034 ENST00000502505 human ensembl 70_37 -1 known silent c.549 p.G183 0.551 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 114 40 25.97 168 0 0.00 ENSG00000249106 0 genome.wustl.edu 37 4 176733194 176733194 + RNA SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 4 176733194 176733194 G A SNP ENSG00000249106 ENST00000514864 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-806K15.1 Clone_based_vega_gene ENSG00000249106 46 17 26.98 73 0 0.00 ENSG00000249194 0 genome.wustl.edu 37 2 166930156 166930156 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 166930156 166930156 A G SNP ENSG00000249194 ENST00000507401 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors AC010127.4 Clone_based_vega_gene ENSG00000249194 16 16 50.00 28 0 0.00 ENSG00000249196 0 genome.wustl.edu 37 12 129595958 129595958 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 129595958 129595958 G A SNP ENSG00000249196 ENST00000512133 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-669N7.2 Clone_based_vega_gene ENSG00000249196 24 30 55.56 31 0 0.00 ENSG00000249237 0 genome.wustl.edu 37 1 84810492 84810492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 84810492 84810492 G T SNP ENSG00000249237 ENST00000505585 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-376N17.4 Clone_based_vega_gene ENSG00000249237 22 6 21.43 32 0 0.00 ENSG00000249275 0 genome.wustl.edu 37 4 158559035 158559035 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 158559035 158559035 C T SNP ENSG00000249275 ENST00000507296 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364P22.2 Clone_based_vega_gene ENSG00000249275 2 6 75.00 11 0 0.00 ENSG00000249341 0 genome.wustl.edu 37 4 54603064 54603064 + RNA SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 54603064 54603064 A T SNP ENSG00000249341 ENST00000508112 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-317M11.1 Clone_based_vega_gene ENSG00000249341 34 30 46.88 35 0 0.00 ENSG00000249364 0 genome.wustl.edu 37 5 67093330 67093330 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 67093330 67093330 C G SNP ENSG00000249364 ENST00000514368 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-434D9.1 Clone_based_vega_gene ENSG00000249364 29 26 47.27 40 0 0.00 ENSG00000249391 0 genome.wustl.edu 37 4 2446868 2446868 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 2446868 2446868 G C SNP ENSG00000249391 ENST00000514556 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-503N18.2 Clone_based_vega_gene ENSG00000249391 34 18 34.62 54 0 0.00 ENSG00000249413 0 genome.wustl.edu 37 4 66864981 66864981 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 66864981 66864981 G C SNP ENSG00000249413 ENST00000508572 human ensembl 70_37 +1 known rna NULL NULL 0.112 - - - no_errors RP11-25H12.1 Clone_based_vega_gene ENSG00000249413 6 21 77.78 25 0 0.00 ENSG00000249428 0 genome.wustl.edu 37 4 2461960 2461961 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 2461960 2461961 - G INS ENSG00000249428 ENST00000506607 human ensembl 70_37 +1 putative frame_shift_ins c.887_888 p.A297fs 0.856:0.018 NULL NULL - no_errors RP11-503N18.3 Clone_based_vega_gene ENSG00000249428 42 12 22.22 31 0 0.00 ENSG00000249618 0 genome.wustl.edu 37 4 130710090 130710090 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 130710090 130710090 C A SNP ENSG00000249618 ENST00000508724 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-422J15.1 Clone_based_vega_gene ENSG00000249618 39 18 31.58 28 0 0.00 ENSG00000249631 0 genome.wustl.edu 37 4 11791462 11791462 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 11791462 11791462 G A SNP ENSG00000249631 ENST00000509244 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-281P23.2 Clone_based_vega_gene ENSG00000249631 26 12 31.58 27 0 0.00 ENSG00000249690 0 genome.wustl.edu 37 4 151500299 151500299 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151500299 151500299 C G SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000249690 7 10 58.82 12 0 0.00 ENSG00000249690 0 genome.wustl.edu 37 4 151500760 151500760 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 151500760 151500760 G A SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000249690 16 4 20.00 47 0 0.00 ENSG00000249690 0 genome.wustl.edu 37 4 151500783 151500783 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 151500783 151500783 G C SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000249690 22 16 42.11 55 0 0.00 ENSG00000249694 0 genome.wustl.edu 37 8 2453789 2453789 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 2453789 2453789 C T SNP ENSG00000249694 ENST00000515276 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-378A12.1 Clone_based_vega_gene ENSG00000249694 39 30 43.48 53 0 0.00 ENSG00000249710 0 genome.wustl.edu 37 4 101111198 101111198 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 101111198 101111198 A C SNP ENSG00000249710 ENST00000515782 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-588P8.1 Clone_based_vega_gene ENSG00000249710 7 3 30.00 37 0 0.00 ENSG00000249772 0 genome.wustl.edu 37 5 80409295 80409295 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 80409295 80409295 G C SNP ENSG00000249772 ENST00000508993 human ensembl 70_37 -1 known rna NULL NULL 0.060 - - - no_errors CTD-2193P3.2 Clone_based_vega_gene ENSG00000249772 29 10 25.64 26 0 0.00 ENSG00000249825 0 genome.wustl.edu 37 5 79375955 79375955 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79375955 79375955 C T SNP ENSG00000249825 ENST00000503007 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2201I18.1 Clone_based_vega_gene ENSG00000249825 5 16 76.19 19 0 0.00 ENSG00000249852 0 genome.wustl.edu 37 7 228609 228609 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 228609 228609 G T SNP ENSG00000249852 ENST00000514988 human ensembl 70_37 -1 putative silent c.252 p.T84 0.003 NULL NULL - no_errors AC145676.2 Clone_based_vega_gene ENSG00000249852 42 5 10.64 30 0 0.00 ENSG00000249899 0 genome.wustl.edu 37 5 52228251 52228251 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 52228251 52228251 C T SNP ENSG00000249899 ENST00000505701 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2175A23.1 Clone_based_vega_gene ENSG00000249899 4 28 87.50 37 0 0.00 ENSG00000249913 0 genome.wustl.edu 37 1 112958681 112958681 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 112958681 112958681 G A SNP ENSG00000249913 ENST00000502356 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-671G15.2 Clone_based_vega_gene ENSG00000249913 33 28 45.90 51 0 0.00 ENSG00000250007 0 genome.wustl.edu 37 15 35104824 35104824 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 35104824 35104824 G T SNP ENSG00000250007 ENST00000503496 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-814P5.1 Clone_based_vega_gene ENSG00000250007 32 19 37.25 32 0 0.00 ENSG00000250026 0 genome.wustl.edu 37 4 69083668 69083668 + RNA SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 69083668 69083668 A T SNP ENSG00000250026 ENST00000504453 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-453E17.3 Clone_based_vega_gene ENSG00000250026 47 35 42.68 47 0 0.00 ENSG00000250027 0 genome.wustl.edu 37 4 164040740 164040740 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 164040740 164040740 G T SNP ENSG00000250027 ENST00000503478 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors RP11-563E2.2 Clone_based_vega_gene ENSG00000250027 25 4 13.79 32 0 0.00 ENSG00000250042 0 genome.wustl.edu 37 4 188293053 188293053 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 188293053 188293053 G T SNP ENSG00000250042 ENST00000509058 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-91J3.2 Clone_based_vega_gene ENSG00000250042 35 4 10.26 30 0 0.00 ENSG00000250062 0 genome.wustl.edu 37 4 87048808 87048808 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 87048808 87048808 C A SNP ENSG00000250062 ENST00000509322 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-778J15.1 Clone_based_vega_gene ENSG00000250062 17 4 19.05 29 0 0.00 ENSG00000250069 0 genome.wustl.edu 37 5 139582271 139582271 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 139582271 139582271 G C SNP ENSG00000250069 ENST00000508713 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTB-131B5.2 Clone_based_vega_gene ENSG00000250069 41 16 28.07 38 0 0.00 ENSG00000250092 0 genome.wustl.edu 37 4 21610551 21610551 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 21610551 21610551 G A SNP ENSG00000250092 ENST00000505528 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-556G22.3 Clone_based_vega_gene ENSG00000250092 23 25 51.02 41 0 0.00 ENSG00000250235 0 genome.wustl.edu 37 4 157853151 157853151 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 157853151 157853151 G A SNP ENSG00000250235 ENST00000505116 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-612J15.2 Clone_based_vega_gene ENSG00000250235 14 7 33.33 45 0 0.00 ENSG00000250240 0 genome.wustl.edu 37 5 95067902 95067902 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 95067902 95067902 C T SNP ENSG00000250240 ENST00000512486 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2154I11.2 Clone_based_vega_gene ENSG00000250240 10 4 28.57 12 0 0.00 ENSG00000250263 0 genome.wustl.edu 37 4 177801457 177801457 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 177801457 177801457 C T SNP ENSG00000250263 ENST00000508790 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-765K14.1 Clone_based_vega_gene ENSG00000250263 11 35 76.09 23 0 0.00 ENSG00000250303 0 genome.wustl.edu 37 11 112163036 112163037 + RNA INS - - TTCC TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 112163036 112163037 - TTCC INS ENSG00000250303 ENST00000419895 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors RP11-356J5.12 Clone_based_vega_gene ENSG00000250303 18 7 28.00 15 0 0.00 ENSG00000250383 0 genome.wustl.edu 37 5 108153913 108153913 + RNA SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 108153913 108153913 G T SNP ENSG00000250383 ENST00000510935 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-2197I11.1 Clone_based_vega_gene ENSG00000250383 30 4 11.76 48 0 0.00 ENSG00000250383 0 genome.wustl.edu 37 5 108153944 108153944 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 108153944 108153944 C T SNP ENSG00000250383 ENST00000510935 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2197I11.1 Clone_based_vega_gene ENSG00000250383 33 4 10.53 39 0 0.00 ENSG00000250387 0 genome.wustl.edu 37 5 70647744 70647744 + RNA SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 5 70647744 70647744 A C SNP ENSG00000250387 ENST00000502659 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors RP11-136K7.2 Clone_based_vega_gene ENSG00000250387 11 6 35.29 12 0 0.00 ENSG00000250404 0 genome.wustl.edu 37 11 3838432 3838432 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3838432 3838432 C G SNP ENSG00000250404 ENST00000507938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC090587.2 Clone_based_vega_gene ENSG00000250404 12 9 42.86 17 0 0.00 ENSG00000250410 0 genome.wustl.edu 37 4 186311904 186311904 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 186311904 186311904 G C SNP ENSG00000250410 ENST00000514884 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-714G18.1 Clone_based_vega_gene ENSG00000250410 39 34 46.58 34 0 0.00 ENSG00000250417 0 genome.wustl.edu 37 5 1856552 1856552 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 5 1856552 1856552 C T SNP ENSG00000250417 ENST00000509455 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2194D22.2 Clone_based_vega_gene ENSG00000250417 12 33 73.33 29 0 0.00 ENSG00000250453 0 genome.wustl.edu 37 5 28809279 28809279 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 28809279 28809279 C T SNP ENSG00000250453 ENST00000504398 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2134P3.1 Clone_based_vega_gene ENSG00000250453 32 6 15.79 26 0 0.00 ENSG00000250548 0 genome.wustl.edu 37 14 62023243 62023243 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 62023243 62023243 G A SNP ENSG00000250548 ENST00000508827 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors RP11-47I22.2 Clone_based_vega_gene ENSG00000250548 54 15 21.74 37 0 0.00 ENSG00000250610 0 genome.wustl.edu 37 4 57898509 57898509 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 57898509 57898509 T C SNP ENSG00000250610 ENST00000514062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-738E22.2 Clone_based_vega_gene ENSG00000250610 27 13 32.50 71 0 0.00 ENSG00000250696 0 genome.wustl.edu 37 4 70080441 70080441 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 70080441 70080441 C G SNP ENSG00000250696 ENST00000505646 human ensembl 70_37 +1 known rna NULL NULL 0.894 - - - no_errors RP11-704M14.1 Clone_based_vega_gene ENSG00000250696 60 32 34.78 99 0 0.00 ENSG00000250770 0 genome.wustl.edu 37 12 3407262 3407262 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 3407262 3407262 A G SNP ENSG00000250770 ENST00000505276 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors RP5-1063M23.1 Clone_based_vega_gene ENSG00000250770 34 8 19.05 28 0 0.00 ENSG00000250784 0 genome.wustl.edu 37 1 155109218 155109219 + RNA INS - - A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 155109218 155109219 - A INS ENSG00000250784 ENST00000506037 human ensembl 70_37 +1 known rna NULL NULL 0.083:0.075 - - - no_errors RP11-540D14.6 Clone_based_vega_gene ENSG00000250784 33 5 13.16 20 0 0.00 ENSG00000250784 0 genome.wustl.edu 37 1 155109219 155109219 + RNA DEL A A - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 155109219 155109219 A - DEL ENSG00000250784 ENST00000506037 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors RP11-540D14.6 Clone_based_vega_gene ENSG00000250784 31 7 18.42 20 0 0.00 ENSG00000250903 0 genome.wustl.edu 37 6 2283981 2283981 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 2283981 2283981 C T SNP ENSG00000250903 ENST00000456943 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors RP1-80B9.2 Clone_based_vega_gene ENSG00000250903 3 18 85.71 38 0 0.00 ENSG00000250906 0 genome.wustl.edu 37 4 40827834 40827834 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 40827834 40827834 C T SNP ENSG00000250906 ENST00000513127 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-632F7.3 Clone_based_vega_gene ENSG00000250906 14 12 46.15 39 0 0.00 ENSG00000250910 0 genome.wustl.edu 37 4 156250918 156250918 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 156250918 156250918 G A SNP ENSG00000250910 ENST00000508191 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC097467.2 Clone_based_vega_gene ENSG00000250910 34 19 35.85 38 0 0.00 ENSG00000250910 0 genome.wustl.edu 37 4 156302323 156302323 + Splice_Site SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 156302323 156302323 G A SNP ENSG00000250910 ENST00000596165 human ensembl 70_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors AC097467.2 Clone_based_vega_gene ENSG00000250910 6 4 40.00 17 0 0.00 ENSG00000250937 0 genome.wustl.edu 37 12 8449406 8449407 + RNA INS - - G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 8449406 8449407 - G INS ENSG00000250937 ENST00000509919 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors RP11-90D4.1 Clone_based_vega_gene ENSG00000250937 12 3 20.00 10 0 0.00 ENSG00000251031 0 genome.wustl.edu 37 5 144608325 144608325 + RNA SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 144608325 144608325 G T SNP ENSG00000251031 ENST00000504204 human ensembl 70_37 -1 known rna NULL NULL 0.414 - - - no_errors CTC-367F4.1 Clone_based_vega_gene ENSG00000251031 28 4 12.50 24 0 0.00 ENSG00000251049 0 genome.wustl.edu 37 4 58462540 58462540 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 58462540 58462540 C T SNP ENSG00000251049 ENST00000509641 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-685F15.1 Clone_based_vega_gene ENSG00000251049 6 6 50.00 26 0 0.00 ENSG00000251093 0 genome.wustl.edu 37 5 90522623 90522623 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 90522623 90522623 G T SNP ENSG00000251093 ENST00000510153 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-414H23.3 Clone_based_vega_gene ENSG00000251093 27 4 12.90 35 0 0.00 ENSG00000251143 0 genome.wustl.edu 37 11 71729063 71729063 + RNA SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 71729063 71729063 G A SNP ENSG00000251143 ENST00000502284 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-849H4.4 Clone_based_vega_gene ENSG00000251143 23 11 32.35 32 0 0.00 ENSG00000251176 0 genome.wustl.edu 37 4 172485127 172485127 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 172485127 172485127 C A SNP ENSG00000251176 ENST00000399152 human ensembl 70_37 -1 putative rna NULL NULL 0.142 - - - no_errors RP11-97E7.1 Clone_based_vega_gene ENSG00000251176 7 3 30.00 34 0 0.00 ENSG00000251209 0 genome.wustl.edu 37 15 98417324 98417324 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 98417324 98417324 G A SNP ENSG00000251209 ENST00000503768 human ensembl 70_37 -1 known silent c.192 p.L64 0.023 NULL NULL - no_errors RP11-82I10.1 Clone_based_vega_gene ENSG00000251209 20 11 35.48 44 0 0.00 ENSG00000251209 0 genome.wustl.edu 37 15 98417423 98417423 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 98417423 98417423 G C SNP ENSG00000251209 ENST00000503768 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 NULL NULL - no_errors RP11-82I10.1 Clone_based_vega_gene ENSG00000251209 15 5 25.00 11 0 0.00 ENSG00000251259 0 genome.wustl.edu 37 4 106058719 106058719 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 106058719 106058719 C T SNP ENSG00000251259 ENST00000504082 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004069.2 Clone_based_vega_gene ENSG00000251259 3 5 62.50 13 0 0.00 ENSG00000251292 0 genome.wustl.edu 37 4 23735197 23735197 + RNA SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 23735197 23735197 A G SNP ENSG00000251292 ENST00000507666 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-380P13.2 Clone_based_vega_gene ENSG00000251292 56 11 16.42 28 0 0.00 ENSG00000251445 0 genome.wustl.edu 37 4 169932069 169932069 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 169932069 169932069 C A SNP ENSG00000251445 ENST00000506933 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-483A20.3 Clone_based_vega_gene ENSG00000251445 27 4 12.90 40 0 0.00 ENSG00000251487 0 genome.wustl.edu 37 5 19035868 19035868 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 19035868 19035868 C T SNP ENSG00000251487 ENST00000513955 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-124N3.2 Clone_based_vega_gene ENSG00000251487 36 36 50.00 28 0 0.00 ENSG00000251632 0 genome.wustl.edu 37 4 138522499 138522499 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 138522499 138522499 C A SNP ENSG00000251632 ENST00000507365 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-714L20.1 Clone_based_vega_gene ENSG00000251632 32 4 11.11 37 0 0.00 ENSG00000251695 0 genome.wustl.edu 37 12 69186401 69186401 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 69186401 69186401 G A SNP ENSG00000251695 ENST00000399333 human ensembl 70_37 +1 known silent c.66 p.K22 0.000 NULL NULL - no_errors AC124890.1 Clone_based_ensembl_gene ENSG00000251695 27 21 43.75 32 0 0.00 ENSG00000251696 0 genome.wustl.edu 37 1 205031412 205031412 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 205031412 205031412 G A SNP ENSG00000251696 ENST00000515887 human ensembl 70_37 +1 novel rna NULL NULL 0.010 - - - no_errors AL583832.1 Clone_based_ensembl_gene ENSG00000251696 23 10 30.30 35 0 0.00 ENSG00000251736 0 genome.wustl.edu 37 7 132767687 132767688 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 132767687 132767688 - A INS ENSG00000251736 ENST00000515927 human ensembl 70_37 +1 novel rna NULL NULL 0.001:0.013 - - - no_errors U6 RFAM ENSG00000251736 45 5 10.00 39 0 0.00 ENSG00000251897 0 genome.wustl.edu 37 18 6936936 6936936 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 6936936 6936936 T C SNP ENSG00000251897 ENST00000516088 human ensembl 70_37 -1 novel rna NULL NULL 0.239 - - - no_errors U6 RFAM ENSG00000251897 30 20 40.00 28 0 0.00 ENSG00000252196 0 genome.wustl.edu 37 6 166355808 166355808 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 166355808 166355808 G A SNP ENSG00000252196 ENST00000516387 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors AL590482.1 Clone_based_ensembl_gene ENSG00000252196 35 15 30.00 89 0 0.00 ENSG00000252258 0 genome.wustl.edu 37 18 3025468 3025468 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 3025468 3025468 G C SNP ENSG00000252258 ENST00000516449 human ensembl 70_37 -1 novel rna NULL NULL 0.657 - - - no_errors SNORA70 RFAM ENSG00000252258 54 6 10.00 59 0 0.00 ENSG00000252258 0 genome.wustl.edu 37 18 3025532 3025533 + RNA INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 18 3025532 3025533 - A INS ENSG00000252258 ENST00000516449 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 13 8 38.10 16 0 0.00 ENSG00000252430 0 genome.wustl.edu 37 X 98640203 98640203 + RNA SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 98640203 98640203 G T SNP ENSG00000252430 ENST00000516621 human ensembl 70_37 -1 novel rna NULL NULL 0.007 - - - no_errors AL109750.1 Clone_based_ensembl_gene ENSG00000252430 22 43 66.15 22 0 0.00 ENSG00000252504 0 genome.wustl.edu 37 3 53244060 53244060 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 53244060 53244060 A T SNP ENSG00000252504 ENST00000516695 human ensembl 70_37 -1 novel rna NULL NULL 0.219 - - - no_errors AC097015.1 Clone_based_ensembl_gene ENSG00000252504 40 24 37.50 58 0 0.00 ENSG00000252608 0 genome.wustl.edu 37 16 81140204 81140204 + RNA SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 81140204 81140204 T A SNP ENSG00000252608 ENST00000516799 human ensembl 70_37 -1 novel rna NULL NULL 0.041 - - - no_errors U6 RFAM ENSG00000252608 37 6 13.95 24 0 0.00 ENSG00000252662 0 genome.wustl.edu 37 3 63320491 63320491 + RNA SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 3 63320491 63320491 G A SNP ENSG00000252662 ENST00000516853 human ensembl 70_37 +1 novel rna NULL NULL 0.013 - - - no_errors AC099545.1 Clone_based_ensembl_gene ENSG00000252662 10 7 41.18 30 0 0.00 ENSG00000252663 0 genome.wustl.edu 37 8 36124115 36124115 + RNA SNP A A T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 36124115 36124115 A T SNP ENSG00000252663 ENST00000516854 human ensembl 70_37 +1 novel rna NULL NULL 0.030 - - - no_errors 7SK RFAM ENSG00000252663 28 4 12.50 38 0 0.00 ENSG00000252677 0 genome.wustl.edu 37 18 19291975 19291975 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 18 19291975 19291975 C A SNP ENSG00000252677 ENST00000516868 human ensembl 70_37 -1 novel rna NULL NULL 0.886 - - - no_errors SNORA81 RFAM ENSG00000252677 25 4 13.79 31 0 0.00 ENSG00000252798 0 genome.wustl.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 21598984 21598985 - T INS ENSG00000252798 ENST00000516989 human ensembl 70_37 +1 novel rna NULL NULL 0.242:0.246 - - - no_errors SCARNA6 RFAM ENSG00000252798 6 2 25.00 11 0 0.00 ENSG00000252996 0 genome.wustl.edu 37 12 3063425 3063425 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 3063425 3063425 C T SNP ENSG00000252996 ENST00000517187 human ensembl 70_37 -1 novel rna NULL NULL 0.049 - - - no_errors U6 RFAM ENSG00000252996 23 23 50.00 32 0 0.00 ENSG00000253125 0 genome.wustl.edu 37 8 22547822 22547822 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 22547822 22547822 G A SNP ENSG00000253125 ENST00000523627 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-459E5.1 Clone_based_vega_gene ENSG00000253125 3 11 78.57 17 0 0.00 ENSG00000253200 0 genome.wustl.edu 37 8 22471894 22471894 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 22471894 22471894 C G SNP ENSG00000253200 ENST00000521025 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 2 23 92.00 37 0 0.00 ENSG00000253200 0 genome.wustl.edu 37 8 22472648 22472648 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 22472648 22472648 C T SNP ENSG00000253200 ENST00000521025 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 2 19 90.48 21 0 0.00 ENSG00000253238 0 genome.wustl.edu 37 8 81178401 81178401 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 81178401 81178401 C T SNP ENSG00000253238 ENST00000522044 human ensembl 70_37 +1 known rna NULL NULL 0.169 - - - no_errors RP11-941H19.3 Clone_based_vega_gene ENSG00000253238 53 13 19.70 85 0 0.00 ENSG00000253251 0 genome.wustl.edu 37 5 64925596 64925596 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 64925596 64925596 C T SNP ENSG00000253251 ENST00000510585 human ensembl 70_37 +1 putative missense c.182 p.S61F 0.999 NULL NULL - no_errors CTC-534A2.2 Clone_based_vega_gene ENSG00000253251 18 13 41.94 34 0 0.00 ENSG00000253374 0 genome.wustl.edu 37 8 82433957 82433957 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 82433957 82433957 G C SNP ENSG00000253374 ENST00000518637 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-257P3.3 Clone_based_vega_gene ENSG00000253374 35 17 32.69 53 0 0.00 ENSG00000253374 0 genome.wustl.edu 37 8 82433986 82433986 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 82433986 82433986 C G SNP ENSG00000253374 ENST00000518637 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-257P3.3 Clone_based_vega_gene ENSG00000253374 33 18 35.29 55 0 0.00 ENSG00000253392 0 genome.wustl.edu 37 19 2915683 2915683 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 2915683 2915683 G A SNP ENSG00000253392 ENST00000520090 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006277.2 Clone_based_vega_gene ENSG00000253392 68 27 28.42 103 0 0.00 ENSG00000253591 0 genome.wustl.edu 37 5 170108309 170108309 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 170108309 170108309 G C SNP ENSG00000253591 ENST00000523591 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-265N9.1 Clone_based_vega_gene ENSG00000253591 8 5 38.46 15 0 0.00 ENSG00000253643 0 genome.wustl.edu 37 8 24349638 24349638 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 24349638 24349638 C T SNP ENSG00000253643 ENST00000519364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-561E1.1 Clone_based_vega_gene ENSG00000253643 8 4 33.33 14 0 0.00 ENSG00000253682 0 genome.wustl.edu 37 8 93415807 93415807 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 93415807 93415807 C T SNP ENSG00000253682 ENST00000518042 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-700E23.2 Clone_based_vega_gene ENSG00000253682 19 8 29.63 17 0 0.00 ENSG00000253711 0 genome.wustl.edu 37 8 62212931 62212931 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 62212931 62212931 G A SNP ENSG00000253711 ENST00000518064 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-787D18.1 Clone_based_vega_gene ENSG00000253711 5 4 44.44 21 0 0.00 ENSG00000253854 0 genome.wustl.edu 37 8 94733096 94733097 + RNA INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 94733096 94733097 - A INS ENSG00000253854 ENST00000520562 human ensembl 70_37 +1 known rna NULL NULL 0.014:0.000 - - - no_errors RP11-10N23.2 Clone_based_vega_gene ENSG00000253854 42 7 14.29 41 0 0.00 ENSG00000253864 0 genome.wustl.edu 37 5 148793052 148793052 + RNA SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 148793052 148793052 C G SNP ENSG00000253864 ENST00000518014 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors AC131025.8 Clone_based_vega_gene ENSG00000253864 34 29 46.03 24 0 0.00 ENSG00000253894 0 genome.wustl.edu 37 8 64381117 64381117 + RNA SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 64381117 64381117 A T SNP ENSG00000253894 ENST00000518739 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-45K10.2 Clone_based_vega_gene ENSG00000253894 45 23 33.82 31 0 0.00 ENSG00000253894 0 genome.wustl.edu 37 8 64384929 64384930 + RNA INS - - T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 64384929 64384930 - T INS ENSG00000253894 ENST00000517899 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors RP11-45K10.2 Clone_based_vega_gene ENSG00000253894 41 8 16.33 31 0 0.00 ENSG00000253898 0 genome.wustl.edu 37 8 84321053 84321053 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 8 84321053 84321053 A G SNP ENSG00000253898 ENST00000522365 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-51M18.1 Clone_based_vega_gene ENSG00000253898 25 11 30.56 22 0 0.00 ENSG00000253917 0 genome.wustl.edu 37 4 3919560 3919560 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3919560 3919560 C T SNP ENSG00000253917 ENST00000514073 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC226119.4 Clone_based_vega_gene ENSG00000253917 72 10 12.20 83 0 0.00 ENSG00000253917 0 genome.wustl.edu 37 4 3919595 3919595 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 3919595 3919595 G C SNP ENSG00000253917 ENST00000514073 human ensembl 70_37 -1 known rna NULL NULL 0.660 - - - no_errors AC226119.4 Clone_based_vega_gene ENSG00000253917 79 22 21.78 90 0 0.00 ENSG00000253988 0 genome.wustl.edu 37 8 139085371 139085371 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 139085371 139085371 C A SNP ENSG00000253988 ENST00000521793 human ensembl 70_37 +1 known rna NULL NULL 0.170 - - - no_errors RP11-489O18.1 Clone_based_vega_gene ENSG00000253988 30 36 54.55 22 0 0.00 ENSG00000253992 0 genome.wustl.edu 37 8 131955571 131955571 + RNA SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 8 131955571 131955571 C T SNP ENSG00000253992 ENST00000523318 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-737F9.1 Clone_based_vega_gene ENSG00000253992 13 15 53.57 22 0 0.00 ENSG00000254003 0 genome.wustl.edu 37 7 87848262 87848262 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 87848262 87848262 G A SNP ENSG00000254003 ENST00000520993 human ensembl 70_37 +1 known rna NULL NULL 0.145 - - - no_errors CTB-167B5.1 Clone_based_vega_gene ENSG00000254003 6 15 71.43 19 0 0.00 ENSG00000254026 0 genome.wustl.edu 37 8 20820383 20820383 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 20820383 20820383 G A SNP ENSG00000254026 ENST00000519605 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-369E15.2 Clone_based_vega_gene ENSG00000254026 55 7 11.29 27 0 0.00 ENSG00000254035 0 genome.wustl.edu 37 5 178396617 178396617 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178396617 178396617 A C SNP ENSG00000254035 ENST00000519491 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RP11-281O15.4 Clone_based_vega_gene ENSG00000254035 38 6 13.33 73 0 0.00 ENSG00000254042 0 genome.wustl.edu 37 5 168134917 168134917 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 168134917 168134917 C G SNP ENSG00000254042 ENST00000522615 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000254042 17 18 51.43 46 0 0.00 ENSG00000254042 0 genome.wustl.edu 37 5 168135179 168135179 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 168135179 168135179 C T SNP ENSG00000254042 ENST00000522615 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000254042 15 8 34.78 18 0 0.00 ENSG00000254095 0 genome.wustl.edu 37 8 31196731 31196731 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 31196731 31196731 C T SNP ENSG00000254095 ENST00000524017 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-566H8.2 Clone_based_vega_gene ENSG00000254095 36 25 40.98 28 0 0.00 ENSG00000254101 0 genome.wustl.edu 37 8 137822062 137822062 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 137822062 137822062 G T SNP ENSG00000254101 ENST00000521090 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-30J20.1 Clone_based_vega_gene ENSG00000254101 58 17 22.67 37 0 0.00 ENSG00000254154 0 genome.wustl.edu 37 1 177929129 177929129 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 177929129 177929129 G A SNP ENSG00000254154 ENST00000466953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254154 54 23 29.87 32 0 0.00 ENSG00000254154 0 genome.wustl.edu 37 1 177929422 177929422 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 177929422 177929422 G T SNP ENSG00000254154 ENST00000466953 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254154 30 26 46.43 48 0 0.00 ENSG00000254154 0 genome.wustl.edu 37 1 178003886 178003886 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 178003886 178003886 G C SNP ENSG00000254154 ENST00000464428 human ensembl 70_37 -1 known rna NULL NULL 0.919 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254154 24 12 33.33 31 0 0.00 ENSG00000254226 0 genome.wustl.edu 37 5 151648399 151648399 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 151648399 151648399 G C SNP ENSG00000254226 ENST00000524295 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 7 5 41.67 18 0 0.00 ENSG00000254226 0 genome.wustl.edu 37 5 151648402 151648403 + RNA INS - - T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 151648402 151648403 - T INS ENSG00000254226 ENST00000524295 human ensembl 70_37 +1 known rna NULL NULL 0.019:0.020 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 7 5 41.67 17 0 0.00 ENSG00000254236 0 genome.wustl.edu 37 8 104033553 104033553 + RNA SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 104033553 104033553 G A SNP ENSG00000254236 ENST00000522416 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors KB-1639H6.2 Clone_based_vega_gene ENSG00000254236 3 8 72.73 8 0 0.00 ENSG00000254248 0 genome.wustl.edu 37 8 96097859 96097860 + RNA INS - - CA TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 96097859 96097860 - CA INS ENSG00000254248 ENST00000518598 human ensembl 70_37 -1 known rna NULL NULL 0.010:0.009 - - - no_errors RP11-320N21.2 Clone_based_vega_gene ENSG00000254248 27 7 20.59 22 0 0.00 ENSG00000254278 0 genome.wustl.edu 37 8 120080181 120080181 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 120080181 120080181 A G SNP ENSG00000254278 ENST00000518362 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-278I4.2 Clone_based_vega_gene ENSG00000254278 33 37 52.11 25 0 0.00 ENSG00000254282 0 genome.wustl.edu 37 5 147695441 147695441 + RNA DEL T T - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 147695441 147695441 T - DEL ENSG00000254282 ENST00000523913 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RP11-373N22.4 Clone_based_vega_gene ENSG00000254282 4 4 50.00 8 0 0.00 ENSG00000254339 0 genome.wustl.edu 37 8 115307783 115307783 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 115307783 115307783 C A SNP ENSG00000254339 ENST00000507929 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-267L5.1 Clone_based_vega_gene ENSG00000254339 54 12 18.18 35 0 0.00 ENSG00000254372 0 genome.wustl.edu 37 8 136468729 136468729 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 136468729 136468729 G T SNP ENSG00000254372 ENST00000518674 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-343P9.1 Clone_based_vega_gene ENSG00000254372 36 4 10.00 27 0 0.00 ENSG00000254452 0 genome.wustl.edu 37 11 66044806 66044806 + RNA SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 66044806 66044806 G T SNP ENSG00000254452 ENST00000526951 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-867G23.4 Clone_based_vega_gene ENSG00000254452 13 3 18.75 23 0 0.00 ENSG00000254452 0 genome.wustl.edu 37 11 66044847 66044847 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 66044847 66044847 C T SNP ENSG00000254452 ENST00000526951 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-867G23.4 Clone_based_vega_gene ENSG00000254452 6 9 60.00 15 0 0.00 ENSG00000254467 0 genome.wustl.edu 37 11 123539734 123539734 + Splice_Site SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 123539734 123539734 T C SNP ENSG00000254467 ENST00000532961 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.161 - - - no_errors RP11-634B22.4 Clone_based_vega_gene ENSG00000254467 34 27 44.26 35 0 0.00 ENSG00000254532 0 genome.wustl.edu 37 11 30065934 30065934 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 30065934 30065934 C T SNP ENSG00000254532 ENST00000527819 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-624D11.2 Clone_based_vega_gene ENSG00000254532 38 5 11.63 42 0 0.00 ENSG00000254551 0 genome.wustl.edu 37 11 82921097 82921097 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 82921097 82921097 C T SNP ENSG00000254551 ENST00000531869 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors RP11-727A23.7 Clone_based_vega_gene ENSG00000254551 51 16 23.53 58 0 0.00 ENSG00000254553 0 genome.wustl.edu 37 1 32936792 32936792 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 32936792 32936792 G C SNP ENSG00000254553 ENST00000480336 human ensembl 70_37 +1 known silent c.567 p.L189 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 40 46 53.49 82 0 0.00 ENSG00000254553 0 genome.wustl.edu 37 1 32946572 32946572 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32946572 32946572 C T SNP ENSG00000254553 ENST00000480336 human ensembl 70_37 +1 known missense c.1072 p.R358W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 28 13 31.71 38 0 0.00 ENSG00000254587 0 genome.wustl.edu 37 11 96584391 96584392 + RNA INS - - T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 96584391 96584392 - T INS ENSG00000254587 ENST00000527528 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.002 - - - no_errors RP11-360K13.1 Clone_based_vega_gene ENSG00000254587 58 24 29.27 37 0 0.00 ENSG00000254602 0 genome.wustl.edu 37 11 57420263 57420264 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 57420263 57420264 - A INS ENSG00000254602 ENST00000530595 human ensembl 70_37 +1 known rna NULL NULL 0.021:0.015 - - - no_errors AP000662.4 Clone_based_vega_gene ENSG00000254602 41 6 12.77 25 0 0.00 ENSG00000254614 0 genome.wustl.edu 37 11 64948463 64948463 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64948463 64948463 C T SNP ENSG00000254614 ENST00000526623 human ensembl 70_37 -1 putative missense c.535 p.A179T 0.002 NULL NULL - no_errors AP003068.23 Clone_based_vega_gene ENSG00000254614 26 17 39.53 56 0 0.00 ENSG00000254665 0 genome.wustl.edu 37 11 8714978 8714978 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 8714978 8714978 C A SNP ENSG00000254665 ENST00000529883 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-152H18.3 Clone_based_vega_gene ENSG00000254665 18 18 50.00 24 0 0.00 ENSG00000254665 0 genome.wustl.edu 37 11 8715262 8715263 + RNA INS - - CAGG TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 8715262 8715263 - CAGG INS ENSG00000254665 ENST00000529883 human ensembl 70_37 +1 known rna NULL NULL 0.007:0.136 - - - no_errors RP11-152H18.3 Clone_based_vega_gene ENSG00000254665 3 3 50.00 9 0 0.00 ENSG00000254693 0 genome.wustl.edu 37 11 44626589 44626589 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 44626589 44626589 T C SNP ENSG00000254693 ENST00000533814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-58K22.5 Clone_based_vega_gene ENSG00000254693 26 6 18.75 81 0 0.00 ENSG00000254855 0 genome.wustl.edu 37 11 66033101 66033101 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66033101 66033101 G A SNP ENSG00000254855 ENST00000530805 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-867G23.1 Clone_based_vega_gene ENSG00000254855 59 28 32.18 88 0 0.00 ENSG00000254873 0 genome.wustl.edu 37 11 118272366 118272366 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 118272366 118272366 C T SNP ENSG00000254873 ENST00000534438 human ensembl 70_37 -1 putative missense c.17 p.R6K 0.000 NULL NULL - no_errors RP11-770J1.5 Clone_based_vega_gene ENSG00000254873 26 61 70.11 91 0 0.00 ENSG00000254873 0 genome.wustl.edu 37 11 118272367 118272367 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 118272367 118272367 T C SNP ENSG00000254873 ENST00000534438 human ensembl 70_37 -1 putative missense c.16 p.R6G 0.000 NULL NULL - no_errors RP11-770J1.5 Clone_based_vega_gene ENSG00000254873 18 15 45.45 22 0 0.00 ENSG00000254893 0 genome.wustl.edu 37 5 75466321 75466321 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 75466321 75466321 G A SNP ENSG00000254893 ENST00000527880 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-466P24.2 Clone_based_vega_gene ENSG00000254893 12 6 33.33 17 0 0.00 ENSG00000254893 0 genome.wustl.edu 37 5 75469560 75469560 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 75469560 75469560 G C SNP ENSG00000254893 ENST00000527880 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-466P24.2 Clone_based_vega_gene ENSG00000254893 63 17 21.25 50 0 0.00 ENSG00000254921 0 genome.wustl.edu 37 11 8061147 8061147 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 8061147 8061147 G A SNP ENSG00000254921 ENST00000526646 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-236J17.6 Clone_based_vega_gene ENSG00000254921 8 19 70.37 30 0 0.00 ENSG00000254932 0 genome.wustl.edu 37 11 125128900 125128900 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 125128900 125128900 G T SNP ENSG00000254932 ENST00000526796 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-687M24.8 Clone_based_vega_gene ENSG00000254932 40 5 10.87 33 0 0.00 ENSG00000254967 0 genome.wustl.edu 37 11 125825510 125825510 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 125825510 125825510 G A SNP ENSG00000254967 ENST00000524962 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RP11-680F20.6 Clone_based_vega_gene ENSG00000254967 36 5 12.20 58 0 0.00 ENSG00000254971 0 genome.wustl.edu 37 11 89487150 89487150 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89487150 89487150 T C SNP ENSG00000254971 ENST00000527332 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-313I2.11 Clone_based_vega_gene ENSG00000254971 41 28 40.58 81 0 0.00 ENSG00000254988 0 genome.wustl.edu 37 11 76669957 76669957 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 76669957 76669957 C G SNP ENSG00000254988 ENST00000530190 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2547H18.1 Clone_based_vega_gene ENSG00000254988 39 9 18.75 37 0 0.00 ENSG00000255026 0 genome.wustl.edu 37 11 288797 288797 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 288797 288797 G A SNP ENSG00000255026 ENST00000525217 human ensembl 70_37 +1 known rna NULL NULL 0.069 - - - no_errors RP11-326C3.2 Clone_based_vega_gene ENSG00000255026 21 7 25.00 30 0 0.00 ENSG00000255178 0 genome.wustl.edu 37 11 80473150 80473150 + RNA SNP A A T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 80473150 80473150 A T SNP ENSG00000255178 ENST00000526840 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors RP11-686G23.2 Clone_based_vega_gene ENSG00000255178 64 22 25.58 34 0 0.00 ENSG00000255182 0 genome.wustl.edu 37 8 145730362 145730362 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145730362 145730362 C A SNP ENSG00000255182 ENST00000527086 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2517M22.14 Clone_based_vega_gene ENSG00000255182 59 29 32.95 66 0 0.00 ENSG00000255200 0 genome.wustl.edu 37 11 64943049 64943050 + RNA INS - - T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 64943049 64943050 - T INS ENSG00000255200 ENST00000534819 human ensembl 70_37 -1 known rna NULL NULL 0.991:0.969 - - - no_errors AP003068.18 Clone_based_vega_gene ENSG00000255200 13 3 18.75 16 0 0.00 ENSG00000255201 0 genome.wustl.edu 37 8 38283558 38283558 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 38283558 38283558 G A SNP ENSG00000255201 ENST00000528407 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-350N15.4 Clone_based_vega_gene ENSG00000255201 26 24 48.00 40 0 0.00 ENSG00000255246 0 genome.wustl.edu 37 11 82314838 82314838 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 82314838 82314838 C A SNP ENSG00000255246 ENST00000527364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-179A16.2 Clone_based_vega_gene ENSG00000255246 28 4 12.50 34 0 0.00 ENSG00000255258 0 genome.wustl.edu 37 11 133654041 133654041 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 133654041 133654041 C T SNP ENSG00000255258 ENST00000526254 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000255258 5 23 82.14 35 0 0.00 ENSG00000255258 0 genome.wustl.edu 37 11 133668128 133668128 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 133668128 133668128 G A SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000255258 9 7 43.75 25 0 0.00 ENSG00000255258 0 genome.wustl.edu 37 11 133670193 133670193 + RNA SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 133670193 133670193 A T SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000255258 17 5 22.73 25 0 0.00 ENSG00000255258 0 genome.wustl.edu 37 11 133680183 133680183 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 133680183 133680183 G A SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000255258 19 11 36.67 19 0 0.00 ENSG00000255345 0 genome.wustl.edu 37 11 78807960 78807961 + RNA DEL TG TG - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 78807960 78807961 TG - DEL ENSG00000255345 ENST00000526091 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 17 2 10.53 19 0 0.00 ENSG00000255345 0 genome.wustl.edu 37 11 78807960 78807961 + RNA INS - - GC TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 78807960 78807961 - GC INS ENSG00000255345 ENST00000526091 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 32 4 11.11 24 0 0.00 ENSG00000255351 0 genome.wustl.edu 37 11 11374294 11374294 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 11374294 11374294 A C SNP ENSG00000255351 ENST00000526867 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-567I13.1 Clone_based_vega_gene ENSG00000255351 61 11 15.28 84 0 0.00 ENSG00000255367 0 genome.wustl.edu 37 11 3529520 3529520 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 3529520 3529520 G A SNP ENSG00000255367 ENST00000527970 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000255367 25 10 28.57 30 0 0.00 ENSG00000255367 0 genome.wustl.edu 37 11 3602161 3602161 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 3602161 3602161 C T SNP ENSG00000255367 ENST00000527970 human ensembl 70_37 -1 known rna NULL NULL 0.708 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000255367 27 8 22.86 42 0 0.00 ENSG00000255384 0 genome.wustl.edu 37 11 118305488 118305488 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 118305488 118305488 C G SNP ENSG00000255384 ENST00000532619 human ensembl 70_37 -1 putative missense c.333 p.Q111H 1.000 NULL NULL - no_errors RP11-770J1.4 Clone_based_vega_gene ENSG00000255384 77 35 31.25 146 0 0.00 ENSG00000255404 0 genome.wustl.edu 37 11 65563417 65563417 + RNA SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 65563417 65563417 G T SNP ENSG00000255404 ENST00000531155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-770G2.5 Clone_based_vega_gene ENSG00000255404 17 4 19.05 26 0 0.00 ENSG00000255404 0 genome.wustl.edu 37 11 65563649 65563649 + RNA SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 65563649 65563649 T A SNP ENSG00000255404 ENST00000531155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-770G2.5 Clone_based_vega_gene ENSG00000255404 144 23 13.77 69 0 0.00 ENSG00000255433 0 genome.wustl.edu 37 11 56638636 56638636 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 56638636 56638636 C G SNP ENSG00000255433 ENST00000526436 human ensembl 70_37 +1 known rna NULL NULL 0.063 - - - no_errors AP000479.1 Clone_based_vega_gene ENSG00000255433 53 7 11.48 52 0 0.00 ENSG00000255441 0 genome.wustl.edu 37 19 51919740 51919740 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 51919740 51919740 G A SNP ENSG00000255441 ENST00000526996 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2616J11.2 Clone_based_vega_gene ENSG00000255441 116 60 34.09 131 0 0.00 ENSG00000255470 0 genome.wustl.edu 37 11 18210800 18210800 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 18210800 18210800 G A SNP ENSG00000255470 ENST00000527671 human ensembl 70_37 -1 novel missense c.118 p.R40C 1.000 NULL NULL - no_errors RP11-113D6.6 Clone_based_vega_gene ENSG00000255470 42 14 25.00 37 0 0.00 ENSG00000255487 0 genome.wustl.edu 37 8 38134046 38134046 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 38134046 38134046 C G SNP ENSG00000255487 ENST00000529325 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-513D5.5 Clone_based_vega_gene ENSG00000255487 67 25 27.17 81 0 0.00 ENSG00000255518 0 genome.wustl.edu 37 8 11415441 11415441 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 11415441 11415441 G A SNP ENSG00000255518 ENST00000528629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-148O21.4 Clone_based_vega_gene ENSG00000255518 27 5 15.62 32 0 0.00 ENSG00000255532 0 genome.wustl.edu 37 11 49401207 49401207 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 49401207 49401207 C G SNP ENSG00000255532 ENST00000529081 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors CTD-2026G22.1 Clone_based_vega_gene ENSG00000255532 5 7 58.33 28 0 0.00 ENSG00000255537 0 genome.wustl.edu 37 11 125365289 125365289 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 125365289 125365289 C G SNP ENSG00000255537 ENST00000527818 human ensembl 70_37 +1 putative missense c.65 p.S22W 0.000 NULL NULL - no_errors AP000708.1 Clone_based_vega_gene ENSG00000255537 6 3 33.33 16 0 0.00 ENSG00000255583 0 genome.wustl.edu 37 12 64082250 64082250 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 64082250 64082250 G A SNP ENSG00000255583 ENST00000541353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-415I12.2 Clone_based_vega_gene ENSG00000255583 37 21 36.21 62 0 0.00 ENSG00000255737 0 genome.wustl.edu 37 12 58121432 58121432 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 58121432 58121432 C T SNP ENSG00000255737 ENST00000542466 human ensembl 70_37 +1 putative silent c.657 p.L219 0.000 NULL NULL - no_errors RP11-571M6.6 Clone_based_vega_gene ENSG00000255737 8 5 38.46 16 0 0.00 ENSG00000255843 0 genome.wustl.edu 37 11 72013338 72013338 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 72013338 72013338 C T SNP ENSG00000255843 ENST00000546065 human ensembl 70_37 +1 known rna NULL NULL 0.636 - - - no_errors AP000593.7 Clone_based_vega_gene ENSG00000255843 17 5 22.73 25 0 0.00 ENSG00000255850 0 genome.wustl.edu 37 12 64215870 64215870 + RNA SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 64215870 64215870 G A SNP ENSG00000255850 ENST00000546214 human ensembl 70_37 -1 known rna NULL NULL 0.854 - - - no_errors RP11-415I12.5 Clone_based_vega_gene ENSG00000255850 50 24 32.00 93 0 0.00 ENSG00000255864 0 genome.wustl.edu 37 12 24715337 24715337 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 24715337 24715337 C A SNP ENSG00000255864 ENST00000429944 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-444D3.1 Clone_based_vega_gene ENSG00000255864 18 3 14.29 32 0 0.00 ENSG00000255895 0 genome.wustl.edu 37 12 10332090 10332090 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 10332090 10332090 C G SNP ENSG00000255895 ENST00000541344 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-656E20.3 Clone_based_vega_gene ENSG00000255895 6 7 53.85 19 0 0.00 ENSG00000255929 0 genome.wustl.edu 37 11 94278935 94278935 + RNA SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 94278935 94278935 C A SNP ENSG00000255929 ENST00000536540 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-867G2.8 Clone_based_vega_gene ENSG00000255929 30 10 25.00 37 0 0.00 ENSG00000255929 0 genome.wustl.edu 37 11 94278963 94278963 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 94278963 94278963 C T SNP ENSG00000255929 ENST00000536540 human ensembl 70_37 -1 known rna NULL NULL 0.117 - - - no_errors RP11-867G2.8 Clone_based_vega_gene ENSG00000255929 30 9 23.08 33 0 0.00 ENSG00000255966 0 genome.wustl.edu 37 12 6641851 6641851 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 6641851 6641851 G A SNP ENSG00000255966 ENST00000537921 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP5-940J5.3 Clone_based_vega_gene ENSG00000255966 21 20 48.78 37 0 0.00 ENSG00000256006 0 genome.wustl.edu 37 11 18427225 18427225 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 18427225 18427225 G A SNP ENSG00000256006 ENST00000496975 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC084117.3 Clone_based_vega_gene ENSG00000256006 13 6 31.58 19 0 0.00 ENSG00000256175 0 genome.wustl.edu 37 12 13193160 13193160 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 13193160 13193160 C T SNP ENSG00000256175 ENST00000542311 human ensembl 70_37 -1 known rna NULL NULL 0.150 - - - no_errors RP11-377D9.2 Clone_based_vega_gene ENSG00000256175 28 30 51.72 37 0 0.00 ENSG00000256195 0 genome.wustl.edu 37 11 114233247 114233248 + RNA INS - - TGTG TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 114233247 114233248 - TGTG INS ENSG00000256195 ENST00000534904 human ensembl 70_37 -1 known rna NULL NULL 0.080:0.101 - - - no_errors RP11-64D24.4 Clone_based_vega_gene ENSG00000256195 24 3 11.11 24 0 0.00 ENSG00000256249 0 genome.wustl.edu 37 12 123199991 123199991 + RNA SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 123199991 123199991 A T SNP ENSG00000256249 ENST00000543611 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000256249 16 7 30.43 20 0 0.00 ENSG00000256249 0 genome.wustl.edu 37 12 123200108 123200108 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123200108 123200108 G T SNP ENSG00000256249 ENST00000543611 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000256249 68 38 35.51 129 0 0.00 ENSG00000256349 0 genome.wustl.edu 37 11 66283047 66283047 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66283047 66283047 G C SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.580 p.E194Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000256349 31 6 16.22 60 0 0.00 ENSG00000256349 0 genome.wustl.edu 37 11 66287093 66287093 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 66287093 66287093 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known silent c.708 p.V236 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000256349 49 14 22.22 89 0 0.00 ENSG00000256349 0 genome.wustl.edu 37 11 66291252 66291252 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 66291252 66291252 G A SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1120 p.E374K 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000256349 25 9 26.47 23 0 0.00 ENSG00000256349 0 genome.wustl.edu 37 11 66293630 66293630 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66293630 66293630 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1258 p.R420W 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000256349 25 13 34.21 19 0 0.00 ENSG00000256349 0 genome.wustl.edu 37 11 66297298 66297298 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 66297298 66297298 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1459 p.R487W 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000256349 58 20 25.64 92 0 0.00 ENSG00000256428 0 genome.wustl.edu 37 11 61546366 61546366 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61546366 61546366 C G SNP ENSG00000256428 ENST00000535042 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-467L20.9 Clone_based_vega_gene ENSG00000256428 57 43 43.00 105 0 0.00 ENSG00000256508 0 genome.wustl.edu 37 11 68779822 68779822 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 68779822 68779822 G T SNP ENSG00000256508 ENST00000569428 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-554A11.6 Clone_based_vega_gene ENSG00000256508 13 3 18.75 22 0 0.00 ENSG00000256512 0 genome.wustl.edu 37 12 27953641 27953642 + RNA INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 27953641 27953642 - A INS ENSG00000256512 ENST00000543527 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.003 - - - no_errors RP11-860B13.3 Clone_based_vega_gene ENSG00000256512 39 5 11.36 35 0 0.00 ENSG00000256632 0 genome.wustl.edu 37 12 133281324 133281324 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 133281324 133281324 C T SNP ENSG00000256632 ENST00000540119 human ensembl 70_37 +1 known missense c.253 p.H85Y 0.000 NULL NULL - no_errors PXMP2 Uniprot_genename ENSG00000256632 28 22 44.00 62 0 0.00 ENSG00000256690 0 genome.wustl.edu 37 11 62601423 62601423 + RNA SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62601423 62601423 G T SNP ENSG00000256690 ENST00000535817 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.9 Clone_based_vega_gene ENSG00000256690 21 7 25.00 25 0 0.00 ENSG00000256694 0 genome.wustl.edu 37 12 274730 274730 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 274730 274730 G C SNP ENSG00000256694 ENST00000540136 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-598F7.5 Clone_based_vega_gene ENSG00000256694 42 39 48.15 87 0 0.00 ENSG00000256789 0 genome.wustl.edu 37 11 63426389 63426389 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63426389 63426389 G T SNP ENSG00000256789 ENST00000540307 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-697H9.2 Clone_based_vega_gene ENSG00000256789 43 5 10.42 33 0 0.00 ENSG00000256897 0 genome.wustl.edu 37 11 47242214 47242214 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 47242214 47242214 G C SNP ENSG00000256897 ENST00000540410 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-17G12.2 Clone_based_vega_gene ENSG00000256897 36 6 14.29 33 0 0.00 ENSG00000256897 0 genome.wustl.edu 37 11 47242251 47242251 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 47242251 47242251 G T SNP ENSG00000256897 ENST00000540410 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-17G12.2 Clone_based_vega_gene ENSG00000256897 41 8 16.33 30 0 0.00 ENSG00000256928 0 genome.wustl.edu 37 11 73106618 73106618 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 73106618 73106618 G T SNP ENSG00000256928 ENST00000544674 human ensembl 70_37 -1 known rna NULL NULL 0.120 - - - no_errors RP11-809N8.2 Clone_based_vega_gene ENSG00000256928 32 4 11.11 34 0 0.00 ENSG00000256995 0 genome.wustl.edu 37 12 23206992 23206992 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 23206992 23206992 G T SNP ENSG00000256995 ENST00000540895 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-114G22.1 Clone_based_vega_gene ENSG00000256995 5 3 37.50 36 0 0.00 ENSG00000257048 0 genome.wustl.edu 37 12 3480491 3480491 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 3480491 3480491 C G SNP ENSG00000257048 ENST00000542449 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-476M19.2 Clone_based_vega_gene ENSG00000257048 47 8 14.55 48 0 0.00 ENSG00000257060 0 genome.wustl.edu 37 15 94039493 94039493 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 94039493 94039493 G C SNP ENSG00000257060 ENST00000556519 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-266O8.1 Clone_based_vega_gene ENSG00000257060 38 22 36.67 33 0 0.00 ENSG00000257095 0 genome.wustl.edu 37 12 119554728 119554728 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 119554728 119554728 C G SNP ENSG00000257095 ENST00000537730 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-364C11.2 Clone_based_vega_gene ENSG00000257095 33 11 25.00 45 0 0.00 ENSG00000257137 0 genome.wustl.edu 37 12 52602151 52602151 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52602151 52602151 C T SNP ENSG00000257137 ENST00000551894 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-845M18.3 Clone_based_vega_gene ENSG00000257137 10 11 52.38 20 0 0.00 ENSG00000257151 0 genome.wustl.edu 37 15 25277465 25277465 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 25277465 25277465 C A SNP ENSG00000257151 ENST00000552334 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-701H24.2 Clone_based_vega_gene ENSG00000257151 15 5 25.00 13 0 0.00 ENSG00000257191 0 genome.wustl.edu 37 12 79354194 79354194 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 79354194 79354194 G A SNP ENSG00000257191 ENST00000548384 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-390N6.1 Clone_based_vega_gene ENSG00000257191 59 9 13.24 31 0 0.00 ENSG00000257198 0 genome.wustl.edu 37 9 34834494 34834494 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34834494 34834494 C T SNP ENSG00000257198 ENST00000455647 human ensembl 70_37 -1 known missense c.995 p.R332H 0.759 NULL NULL - no_errors FAM205B Uniprot_genename ENSG00000257198 147 19 11.31 158 1 0.63 ENSG00000257225 0 genome.wustl.edu 37 12 42853436 42853436 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 42853436 42853436 G C SNP ENSG00000257225 ENST00000547824 human ensembl 70_37 +1 known rna NULL NULL 0.342 - - - no_errors RP11-328C8.4 Clone_based_vega_gene ENSG00000257225 23 18 43.90 46 0 0.00 ENSG00000257228 0 genome.wustl.edu 37 12 41867287 41867287 + RNA SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 41867287 41867287 G T SNP ENSG00000257228 ENST00000547168 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-413B19.2 Clone_based_vega_gene ENSG00000257228 26 21 44.68 29 0 0.00 ENSG00000257259 0 genome.wustl.edu 37 12 59010884 59010885 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 59010884 59010885 - T INS ENSG00000257259 ENST00000550678 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-767I20.1 Clone_based_vega_gene ENSG00000257259 62 8 11.43 29 0 0.00 ENSG00000257359 0 genome.wustl.edu 37 12 114374727 114374727 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 114374727 114374727 G A SNP ENSG00000257359 ENST00000550206 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-780K2.1 Clone_based_vega_gene ENSG00000257359 16 12 42.86 51 0 0.00 ENSG00000257395 0 genome.wustl.edu 37 14 20151934 20151934 + RNA SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 20151934 20151934 G T SNP ENSG00000257395 ENST00000547175 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-597A11.2 Clone_based_vega_gene ENSG00000257395 30 10 25.00 23 0 0.00 ENSG00000257434 0 genome.wustl.edu 37 12 75435999 75435999 + RNA SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 75435999 75435999 A T SNP ENSG00000257434 ENST00000547040 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 51 6 10.53 33 0 0.00 ENSG00000257472 0 genome.wustl.edu 37 14 32399318 32399318 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 14 32399318 32399318 C T SNP ENSG00000257472 ENST00000550309 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-159D23.2 Clone_based_vega_gene ENSG00000257472 37 9 19.57 37 0 0.00 ENSG00000257495 0 genome.wustl.edu 37 12 53004386 53004386 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53004386 53004386 C A SNP ENSG00000257495 ENST00000552364 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 40 7 13.73 72 0 0.00 ENSG00000257495 0 genome.wustl.edu 37 12 53005146 53005146 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53005146 53005146 A G SNP ENSG00000257495 ENST00000549180 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 27 5 15.62 28 0 0.00 ENSG00000257513 0 genome.wustl.edu 37 18 11639355 11639355 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 11639355 11639355 C T SNP ENSG00000257513 ENST00000547442 human ensembl 70_37 -1 known rna NULL NULL 0.560 - - - no_errors RP11-677O4.1 Clone_based_vega_gene ENSG00000257513 131 112 46.09 160 0 0.00 ENSG00000257513 0 genome.wustl.edu 37 18 11639425 11639425 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 11639425 11639425 G A SNP ENSG00000257513 ENST00000547442 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-677O4.1 Clone_based_vega_gene ENSG00000257513 173 63 26.58 204 1 0.49 ENSG00000257540 0 genome.wustl.edu 37 12 52679869 52679869 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 52679869 52679869 C A SNP ENSG00000257540 ENST00000552398 human ensembl 70_37 -1 putative rna NULL NULL 0.008 - - - no_errors RP11-259K21.3 Clone_based_vega_gene ENSG00000257540 36 4 10.00 33 0 0.00 ENSG00000257557 0 genome.wustl.edu 37 12 80328896 80328896 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 80328896 80328896 G T SNP ENSG00000257557 ENST00000552885 human ensembl 70_37 +1 known rna NULL NULL 0.862 - - - no_errors RP11-84G21.1 Clone_based_vega_gene ENSG00000257557 42 33 44.00 88 0 0.00 ENSG00000257599 0 genome.wustl.edu 37 12 29542605 29542605 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 12 29542605 29542605 C T SNP ENSG00000257599 ENST00000551108 human ensembl 70_37 +1 putative missense c.167 p.A56V 0.000 NULL NULL - no_errors RP11-677C1.2 Clone_based_vega_gene ENSG00000257599 7 12 63.16 14 0 0.00 ENSG00000257614 0 genome.wustl.edu 37 14 36417045 36417045 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 14 36417045 36417045 C A SNP ENSG00000257614 ENST00000548199 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-116N8.2 Clone_based_vega_gene ENSG00000257614 33 5 13.16 25 0 0.00 ENSG00000257663 0 genome.wustl.edu 37 12 52470998 52470998 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 52470998 52470998 C G SNP ENSG00000257663 ENST00000550301 human ensembl 70_37 -1 putative rna NULL NULL 0.010 - - - no_errors RP11-1100L3.7 Clone_based_vega_gene ENSG00000257663 16 5 23.81 12 0 0.00 ENSG00000257743 0 genome.wustl.edu 37 7 141833802 141833802 + Silent SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 7 141833802 141833802 C G SNP ENSG00000257743 ENST00000550469 human ensembl 70_37 +1 novel silent c.597 p.P199 0.998 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glycoside_hydrolase_SF,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 8 7 46.67 12 0 0.00 ENSG00000257743 0 genome.wustl.edu 37 7 141833904 141833904 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141833904 141833904 G C SNP ENSG00000257743 ENST00000550469 human ensembl 70_37 +1 novel missense c.699 p.M233I 0.650 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glycoside_hydrolase_SF,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 56 36 38.71 56 0 0.00 ENSG00000257743 0 genome.wustl.edu 37 7 141889220 141889220 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141889220 141889220 C T SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known nonsense c.1042 p.Q348* 0.364 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 30 11 26.83 61 0 0.00 ENSG00000257743 0 genome.wustl.edu 37 7 141895964 141895964 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141895964 141895964 G C SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known missense c.1138 p.E380Q 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 47 60 56.07 61 0 0.00 ENSG00000257743 0 genome.wustl.edu 37 7 141898466 141898466 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141898466 141898466 G C SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known missense c.1756 p.D586H 0.778 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 37 16 30.19 33 0 0.00 ENSG00000257746 0 genome.wustl.edu 37 12 93485177 93485177 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 93485177 93485177 C T SNP ENSG00000257746 ENST00000551928 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-202G11.2 Clone_based_vega_gene ENSG00000257746 25 24 48.98 38 0 0.00 ENSG00000257769 0 genome.wustl.edu 37 16 15704411 15704411 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704411 15704411 G C SNP ENSG00000257769 ENST00000549756 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-193M12.1 Clone_based_vega_gene ENSG00000257769 50 38 43.18 25 0 0.00 ENSG00000257898 0 genome.wustl.edu 37 14 19687776 19687776 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 19687776 19687776 G A SNP ENSG00000257898 ENST00000550717 human ensembl 70_37 -1 known rna NULL NULL 0.294 - - - no_errors RP11-496I2.3 Clone_based_vega_gene ENSG00000257898 53 17 24.29 41 0 0.00 ENSG00000257913 0 genome.wustl.edu 37 12 49412512 49412512 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 49412512 49412512 C T SNP ENSG00000257913 ENST00000547866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 117 35 23.03 164 0 0.00 ENSG00000257931 0 genome.wustl.edu 37 14 19969313 19969313 + RNA SNP T T A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 19969313 19969313 T A SNP ENSG00000257931 ENST00000547399 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 33 6 15.38 43 0 0.00 ENSG00000258027 0 genome.wustl.edu 37 14 20146058 20146058 + RNA SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 20146058 20146058 C A SNP ENSG00000258027 ENST00000548261 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 17 6 26.09 17 0 0.00 ENSG00000258066 0 genome.wustl.edu 37 12 78177296 78177296 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 78177296 78177296 C A SNP ENSG00000258066 ENST00000549993 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-781A6.1 Clone_based_vega_gene ENSG00000258066 61 7 10.29 30 0 0.00 ENSG00000258086 0 genome.wustl.edu 37 12 54801257 54801257 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 54801257 54801257 G A SNP ENSG00000258086 ENST00000552785 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-753H16.5 Clone_based_vega_gene ENSG00000258086 34 9 20.93 45 0 0.00 ENSG00000258130 0 genome.wustl.edu 37 16 30217335 30217335 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30217335 30217335 G A SNP ENSG00000258130 ENST00000550538 human ensembl 70_37 -1 putative missense c.920 p.S307L 0.015 NULL NULL - no_errors RP11-347C12.3 Clone_based_vega_gene ENSG00000258130 51 14 21.54 67 0 0.00 ENSG00000258252 0 genome.wustl.edu 37 14 19563164 19563164 + RNA SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 19563164 19563164 T C SNP ENSG00000258252 ENST00000548748 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 26 6 18.75 19 0 0.00 ENSG00000258252 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 19563232 19563232 T C SNP ENSG00000258252 ENST00000548748 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 36 4 10.00 48 0 0.00 ENSG00000258276 0 genome.wustl.edu 37 14 20009244 20009244 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 20009244 20009244 A G SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 6 5 45.45 8 0 0.00 ENSG00000258276 0 genome.wustl.edu 37 14 20010310 20010310 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 20010310 20010310 A G SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 14 5 26.32 12 0 0.00 ENSG00000258276 0 genome.wustl.edu 37 14 20010412 20010412 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 20010412 20010412 G A SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.046 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 17 6 26.09 19 0 0.00 ENSG00000258276 0 genome.wustl.edu 37 14 20010516 20010516 + RNA SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 20010516 20010516 G A SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 5 3 37.50 18 0 0.00 ENSG00000258317 0 genome.wustl.edu 37 12 56515904 56515904 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 56515904 56515904 G C SNP ENSG00000258317 ENST00000549438 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-603J24.5 Clone_based_vega_gene ENSG00000258317 60 18 23.08 96 0 0.00 ENSG00000258334 0 genome.wustl.edu 37 12 49690068 49690068 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 49690068 49690068 C T SNP ENSG00000258334 ENST00000553259 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 15 9 37.50 32 0 0.00 ENSG00000258334 0 genome.wustl.edu 37 12 49690074 49690074 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49690074 49690074 C G SNP ENSG00000258334 ENST00000553259 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 12 4 25.00 15 0 0.00 ENSG00000258345 0 genome.wustl.edu 37 12 56512855 56512856 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56512855 56512856 - T INS ENSG00000258345 ENST00000550840 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.036 - - - no_errors RP11-603J24.6 Clone_based_vega_gene ENSG00000258345 69 14 16.87 85 0 0.00 ENSG00000258364 0 genome.wustl.edu 37 14 19412574 19412574 + RNA SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 19412574 19412574 C T SNP ENSG00000258364 ENST00000550928 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-536C10.16 Clone_based_vega_gene ENSG00000258364 36 8 18.18 50 0 0.00 ENSG00000258367 0 genome.wustl.edu 37 14 19339542 19339542 + RNA DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 19339542 19339542 A - DEL ENSG00000258367 ENST00000550098 human ensembl 70_37 +1 known rna NULL NULL 0.951 - - - no_errors RP11-536C10.3 Clone_based_vega_gene ENSG00000258367 6 3 33.33 9 0 0.00 ENSG00000258377 0 genome.wustl.edu 37 14 50089367 50089367 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50089367 50089367 G A SNP ENSG00000258377 ENST00000555043 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-649E7.5 Clone_based_vega_gene ENSG00000258377 55 17 23.61 48 0 0.00 ENSG00000258383 0 genome.wustl.edu 37 14 99791163 99791163 + RNA SNP A A T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 99791163 99791163 A T SNP ENSG00000258383 ENST00000555595 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2200A16.1 Clone_based_vega_gene ENSG00000258383 39 9 18.75 36 0 0.00 ENSG00000258398 0 genome.wustl.edu 37 14 51353173 51353173 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 51353173 51353173 A G SNP ENSG00000258398 ENST00000554141 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-218E20.6 Clone_based_vega_gene ENSG00000258398 36 18 33.33 27 0 0.00 ENSG00000258398 0 genome.wustl.edu 37 14 51353299 51353299 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 51353299 51353299 C A SNP ENSG00000258398 ENST00000554141 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-218E20.6 Clone_based_vega_gene ENSG00000258398 11 6 35.29 13 0 0.00 ENSG00000258427 0 genome.wustl.edu 37 14 60864642 60864642 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 60864642 60864642 C T SNP ENSG00000258427 ENST00000601298 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors CTD-2568P8.3 Clone_based_vega_gene ENSG00000258427 7 5 41.67 31 0 0.00 ENSG00000258428 0 genome.wustl.edu 37 14 57114462 57114462 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 57114462 57114462 C G SNP ENSG00000258428 ENST00000553800 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1085N6.2 Clone_based_vega_gene ENSG00000258428 13 7 35.00 24 0 0.00 ENSG00000258471 0 genome.wustl.edu 37 14 21464113 21464113 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 21464113 21464113 G A SNP ENSG00000258471 ENST00000557335 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 41 14 25.45 71 0 0.00 ENSG00000258497 0 genome.wustl.edu 37 14 101744340 101744340 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 101744340 101744340 G A SNP ENSG00000258497 ENST00000555328 human ensembl 70_37 +1 known rna NULL NULL 0.072 - - - no_errors CTD-2561F5.1 Clone_based_vega_gene ENSG00000258497 36 25 40.98 43 0 0.00 ENSG00000258551 0 genome.wustl.edu 37 15 92037034 92037034 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 92037034 92037034 C A SNP ENSG00000258551 ENST00000554333 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-661P17.1 Clone_based_vega_gene ENSG00000258551 30 4 11.76 27 0 0.00 ENSG00000258576 0 genome.wustl.edu 37 14 101054163 101054163 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 101054163 101054163 C T SNP ENSG00000258576 ENST00000554540 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors CTD-2644I21.1 Clone_based_vega_gene ENSG00000258576 26 12 31.58 30 0 0.00 ENSG00000258603 0 genome.wustl.edu 37 14 74083729 74083729 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74083729 74083729 G C SNP ENSG00000258603 ENST00000555011 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP3-414A15.10 Clone_based_vega_gene ENSG00000258603 32 26 44.83 56 0 0.00 ENSG00000258686 0 genome.wustl.edu 37 1 110592049 110592049 + RNA DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 110592049 110592049 T - DEL ENSG00000258686 ENST00000473429 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-773N10.5 Clone_based_vega_gene ENSG00000258686 26 9 25.71 18 0 0.00 ENSG00000258686 0 genome.wustl.edu 37 1 110597279 110597279 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 110597279 110597279 C T SNP ENSG00000258686 ENST00000473429 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP4-773N10.5 Clone_based_vega_gene ENSG00000258686 60 25 29.41 82 0 0.00 ENSG00000258702 0 genome.wustl.edu 37 14 97059158 97059158 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 97059158 97059158 C T SNP ENSG00000258702 ENST00000553378 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-433J8.1 Clone_based_vega_gene ENSG00000258702 27 19 40.43 27 0 0.00 ENSG00000258702 0 genome.wustl.edu 37 14 97059916 97059916 + RNA SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 97059916 97059916 T A SNP ENSG00000258702 ENST00000553378 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-433J8.1 Clone_based_vega_gene ENSG00000258702 29 33 53.23 32 0 0.00 ENSG00000258727 0 genome.wustl.edu 37 14 24030408 24030408 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 24030408 24030408 G A SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 6 3 33.33 32 0 0.00 ENSG00000258727 0 genome.wustl.edu 37 14 24030665 24030665 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24030665 24030665 G A SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 56 30 34.88 81 0 0.00 ENSG00000258727 0 genome.wustl.edu 37 14 24034779 24034779 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 24034779 24034779 C T SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 41 14 25.45 41 0 0.00 ENSG00000258727 0 genome.wustl.edu 37 14 24036583 24036583 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 24036583 24036583 C T SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 7 4 36.36 13 0 0.00 ENSG00000258744 0 genome.wustl.edu 37 14 24977403 24977403 + Nonsense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 24977403 24977403 C T SNP ENSG00000258744 ENST00000555109 human ensembl 70_37 +1 putative nonsense c.205 p.Q69* 0.000 NULL NULL - no_errors RP11-80A15.1 Clone_based_vega_gene ENSG00000258744 28 4 12.50 41 0 0.00 ENSG00000258745 0 genome.wustl.edu 37 14 51379876 51379876 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 51379876 51379876 C T SNP ENSG00000258745 ENST00000557343 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-218E20.5 Clone_based_vega_gene ENSG00000258745 24 16 40.00 27 0 0.00 ENSG00000258754 0 genome.wustl.edu 37 15 94608103 94608103 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 15 94608103 94608103 C T SNP ENSG00000258754 ENST00000555772 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3049M7.1 Clone_based_vega_gene ENSG00000258754 26 12 31.58 30 0 0.00 ENSG00000258776 0 genome.wustl.edu 37 14 57284369 57284369 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 57284369 57284369 G T SNP ENSG00000258776 ENST00000554149 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-1085N6.5 Clone_based_vega_gene ENSG00000258776 39 20 33.90 33 0 0.00 ENSG00000258793 0 genome.wustl.edu 37 14 96734718 96734718 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 96734718 96734718 C G SNP ENSG00000258793 ENST00000553638 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-404P21.3 Clone_based_vega_gene ENSG00000258793 29 4 12.12 29 0 0.00 ENSG00000258820 0 genome.wustl.edu 37 14 75738350 75738350 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 75738350 75738350 G A SNP ENSG00000258820 ENST00000555106 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-293M10.2 Clone_based_vega_gene ENSG00000258820 29 36 54.55 23 0 0.00 ENSG00000258843 0 genome.wustl.edu 37 14 51290144 51290144 + RNA SNP C C A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 14 51290144 51290144 C A SNP ENSG00000258843 ENST00000555966 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-286O18.1 Clone_based_vega_gene ENSG00000258843 10 8 44.44 14 0 0.00 ENSG00000258851 0 genome.wustl.edu 37 14 104019999 104020000 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 104019999 104020000 - A INS ENSG00000258851 ENST00000556332 human ensembl 70_37 +1 known rna NULL NULL 0.058:0.052 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 26 12 31.58 26 0 0.00 ENSG00000258851 0 genome.wustl.edu 37 14 104028196 104028197 + RNA INS - - A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 104028196 104028197 - A INS ENSG00000258851 ENST00000556332 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 40 5 11.11 31 0 0.00 ENSG00000258856 0 genome.wustl.edu 37 14 58096891 58096891 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58096891 58096891 G T SNP ENSG00000258856 ENST00000600311 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 39 9 18.75 96 0 0.00 ENSG00000258935 0 genome.wustl.edu 37 14 91034045 91034045 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 91034045 91034045 C G SNP ENSG00000258935 ENST00000557622 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1078H9.2 Clone_based_vega_gene ENSG00000258935 29 19 39.58 25 0 0.00 ENSG00000259031 0 genome.wustl.edu 37 14 101006724 101006724 + RNA SNP A A T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 101006724 101006724 A T SNP ENSG00000259031 ENST00000553301 human ensembl 70_37 +1 known rna NULL NULL 0.087 - - - no_errors CTD-2062F14.3 Clone_based_vega_gene ENSG00000259031 16 8 33.33 27 0 0.00 ENSG00000259042 0 genome.wustl.edu 37 14 22887341 22887341 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 22887341 22887341 G C SNP ENSG00000259042 ENST00000555460 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors AE000661.50 Clone_based_vega_gene ENSG00000259042 15 8 34.78 33 0 0.00 ENSG00000259060 0 genome.wustl.edu 37 14 21052653 21052653 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 21052653 21052653 C G SNP ENSG00000259060 ENST00000555283 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AL163195.3 Clone_based_vega_gene ENSG00000259060 12 12 50.00 26 0 0.00 ENSG00000259172 0 genome.wustl.edu 37 15 101844271 101844271 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 101844271 101844271 C A SNP ENSG00000259172 ENST00000558838 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-299G20.2 Clone_based_vega_gene ENSG00000259172 39 33 45.83 74 0 0.00 ENSG00000259176 0 genome.wustl.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 15 22332412 22332413 - A INS ENSG00000259176 ENST00000558896 human ensembl 70_37 +1 known rna NULL NULL 0.686:0.693 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 76 15 16.48 85 0 0.00 ENSG00000259176 0 genome.wustl.edu 37 15 22413492 22413492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22413492 22413492 G T SNP ENSG00000259176 ENST00000559392 human ensembl 70_37 +1 known rna NULL NULL 0.568 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 8 14 63.64 46 0 0.00 ENSG00000259180 0 genome.wustl.edu 37 15 55972660 55972661 + RNA INS - - T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 55972660 55972661 - T INS ENSG00000259180 ENST00000561155 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 31 9 22.50 26 0 0.00 ENSG00000259197 0 genome.wustl.edu 37 9 102067846 102067846 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 9 102067846 102067846 C T SNP ENSG00000259197 ENST00000409686 human ensembl 70_37 +1 known silent c.453 p.N151 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 Uniprot_genename ENSG00000259197 33 18 35.29 59 0 0.00 ENSG00000259197 0 genome.wustl.edu 37 9 102068876 102068876 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 102068876 102068876 G T SNP ENSG00000259197 ENST00000409686 human ensembl 70_37 +1 known missense c.1483 p.D495Y 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 Uniprot_genename ENSG00000259197 34 16 32.00 34 0 0.00 ENSG00000259198 0 genome.wustl.edu 37 15 40605391 40605391 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40605391 40605391 A C SNP ENSG00000259198 ENST00000559030 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259198 11 7 38.89 38 0 0.00 ENSG00000259241 0 genome.wustl.edu 37 15 51987959 51987960 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 51987959 51987960 - A INS ENSG00000259241 ENST00000559918 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 15 4 21.05 14 0 0.00 ENSG00000259242 0 genome.wustl.edu 37 19 19719158 19719159 + RNA INS - - A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 19719158 19719159 - A INS ENSG00000259242 ENST00000559614 human ensembl 70_37 +1 known rna NULL NULL 0.213:0.211 - - - no_errors AC002306.1 Clone_based_vega_gene ENSG00000259242 37 6 13.95 24 0 0.00 ENSG00000259243 0 genome.wustl.edu 37 15 83013957 83013957 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 83013957 83013957 T C SNP ENSG00000259243 ENST00000557886 human ensembl 70_37 -1 putative missense c.626 p.H209R 0.831 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259243 4 3 42.86 13 0 0.00 ENSG00000259321 0 genome.wustl.edu 37 14 24609089 24609089 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 24609089 24609089 G C SNP ENSG00000259321 ENST00000558478 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-468E2.5 Clone_based_vega_gene ENSG00000259321 14 8 36.36 9 0 0.00 ENSG00000259352 0 genome.wustl.edu 37 15 45365748 45365748 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 15 45365748 45365748 C T SNP ENSG00000259352 ENST00000560967 human ensembl 70_37 -1 known rna NULL NULL 0.413 - - - no_errors RP11-109D20.2 Clone_based_vega_gene ENSG00000259352 57 20 25.97 117 1 0.85 ENSG00000259357 0 genome.wustl.edu 37 1 150938031 150938031 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 150938031 150938031 G A SNP ENSG00000259357 ENST00000560481 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-316M1.12 Clone_based_vega_gene ENSG00000259357 23 21 47.73 53 0 0.00 ENSG00000259370 0 genome.wustl.edu 37 15 63126600 63126600 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 63126600 63126600 C A SNP ENSG00000259370 ENST00000558888 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1069G10.1 Clone_based_vega_gene ENSG00000259370 32 4 10.81 36 0 0.00 ENSG00000259385 0 genome.wustl.edu 37 15 48484478 48484478 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 48484478 48484478 G T SNP ENSG00000259385 ENST00000559875 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-605F22.1 Clone_based_vega_gene ENSG00000259385 34 4 10.53 38 0 0.00 ENSG00000259385 0 genome.wustl.edu 37 15 48493744 48493744 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 48493744 48493744 G C SNP ENSG00000259385 ENST00000559875 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-605F22.1 Clone_based_vega_gene ENSG00000259385 37 16 30.19 54 0 0.00 ENSG00000259407 0 genome.wustl.edu 37 15 86287916 86287916 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 86287916 86287916 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 8 11 57.89 35 0 0.00 ENSG00000259407 0 genome.wustl.edu 37 15 86287919 86287919 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 86287919 86287919 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 76 10 11.63 45 0 0.00 ENSG00000259407 0 genome.wustl.edu 37 15 86287921 86287921 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 86287921 86287921 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 74 10 11.90 44 0 0.00 ENSG00000259407 0 genome.wustl.edu 37 15 86288014 86288014 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 86288014 86288014 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 5 4 44.44 8 0 0.00 ENSG00000259422 0 genome.wustl.edu 37 15 76467873 76467873 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 76467873 76467873 C G SNP ENSG00000259422 ENST00000558424 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-593F23.1 Clone_based_vega_gene ENSG00000259422 33 19 36.54 55 0 0.00 ENSG00000259468 0 genome.wustl.edu 37 15 34549807 34549807 + RNA SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 15 34549807 34549807 G A SNP ENSG00000259468 ENST00000559867 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1084A12.2 Clone_based_vega_gene ENSG00000259468 21 10 32.26 28 0 0.00 ENSG00000259480 0 genome.wustl.edu 37 15 23131872 23131872 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 23131872 23131872 C A SNP ENSG00000259480 ENST00000560053 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 55 37 39.78 89 0 0.00 ENSG00000259515 0 genome.wustl.edu 37 14 103400276 103400276 + RNA SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 103400276 103400276 G T SNP ENSG00000259515 ENST00000560931 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-365N19.2 Clone_based_vega_gene ENSG00000259515 7 8 53.33 17 0 0.00 ENSG00000259520 0 genome.wustl.edu 37 15 45545733 45545733 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 45545733 45545733 G C SNP ENSG00000259520 ENST00000560344 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2651B20.3 Clone_based_vega_gene ENSG00000259520 26 16 38.10 37 0 0.00 ENSG00000259583 0 genome.wustl.edu 37 15 101455008 101455008 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101455008 101455008 C T SNP ENSG00000259583 ENST00000560068 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-66B24.4 Clone_based_vega_gene ENSG00000259583 16 12 42.86 25 0 0.00 ENSG00000259618 0 genome.wustl.edu 37 15 50789248 50789248 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 50789248 50789248 G A SNP ENSG00000259618 ENST00000560159 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-562A8.5 Clone_based_vega_gene ENSG00000259618 90 22 19.64 63 0 0.00 ENSG00000259647 0 genome.wustl.edu 37 15 30297941 30297941 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 30297941 30297941 C T SNP ENSG00000259647 ENST00000561392 human ensembl 70_37 -1 known rna NULL NULL 0.662 - - - no_errors RP11-143J24.1 Clone_based_vega_gene ENSG00000259647 21 5 19.23 25 0 0.00 ENSG00000259648 0 genome.wustl.edu 37 14 68082425 68082425 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 68082425 68082425 G C SNP ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 12 13 52.00 26 0 0.00 ENSG00000259648 0 genome.wustl.edu 37 14 68082933 68082934 + RNA INS - - T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 68082933 68082934 - T INS ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 0.998:0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 19 3 13.64 16 0 0.00 ENSG00000259648 0 genome.wustl.edu 37 14 68083197 68083198 + RNA INS - - A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 68083197 68083198 - A INS ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 5 5 50.00 8 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 102293062 102293064 CTC - DEL ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000:0.999 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 8 4 33.33 8 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102293216 102293216 + RNA SNP A A C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 102293216 102293216 A C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.887 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 5 2 28.57 15 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102293235 102293235 + RNA SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 102293235 102293235 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 3 2 40.00 13 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102294169 102294169 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 102294169 102294169 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 7 4 36.36 72 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102294483 102294483 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 102294483 102294483 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.578 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 28 9 24.32 21 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 102294715 102294715 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 7 4 36.36 12 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102294753 102294753 + RNA SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 102294753 102294753 T C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 90 10 10.00 30 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102296221 102296221 + RNA SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 15 102296221 102296221 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 12 7 36.84 10 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102297176 102297178 + RNA DEL GCT GCT - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 102297176 102297178 GCT - DEL ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.999:1.000:1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 4 2 33.33 10 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102299805 102299805 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 15 102299805 102299805 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.710 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 8 3 27.27 23 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102299987 102299987 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 102299987 102299987 C A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 42 7 14.29 45 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102301268 102301268 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 102301268 102301268 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 2 3 60.00 8 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102303043 102303043 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 102303043 102303043 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 33 11 24.44 25 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102303197 102303197 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 102303197 102303197 T G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 5 4 44.44 15 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102303914 102303914 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 102303914 102303914 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 15 30 66.67 30 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102304296 102304296 + RNA SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 102304296 102304296 A C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 8 10 55.56 9 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102304728 102304728 + RNA SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 102304728 102304728 G C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 29 8 21.62 25 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 102304772 102304772 T C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 71 9 11.25 29 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102304941 102304941 + RNA SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 102304941 102304941 A G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 61 7 10.29 43 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102312095 102312095 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 102312095 102312095 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 45 10 18.18 24 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102312932 102312932 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 102312932 102312932 C G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 58 22 27.50 89 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102313076 102313076 + RNA SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 102313076 102313076 C G SNP ENSG00000259660 ENST00000560757 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 84 46 35.38 134 0 0.00 ENSG00000259660 0 genome.wustl.edu 37 15 102313382 102313382 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 102313382 102313382 T G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 55 12 17.91 63 0 0.00 ENSG00000259664 0 genome.wustl.edu 37 15 97914087 97914087 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 97914087 97914087 A G SNP ENSG00000259664 ENST00000558621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2147F2.2 Clone_based_vega_gene ENSG00000259664 88 12 12.00 34 0 0.00 ENSG00000259758 0 genome.wustl.edu 37 8 141539356 141539356 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 141539356 141539356 G A SNP ENSG00000259758 ENST00000560295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-204B4.6 Clone_based_vega_gene ENSG00000259758 34 13 27.08 23 0 0.00 ENSG00000259783 0 genome.wustl.edu 37 15 72900847 72900847 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 72900847 72900847 C A SNP ENSG00000259783 ENST00000565305 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-1006G14.2 Clone_based_vega_gene ENSG00000259783 33 27 45.00 79 0 0.00 ENSG00000259847 0 genome.wustl.edu 37 16 65175954 65175954 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 65175954 65175954 G A SNP ENSG00000259847 ENST00000563754 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-95H3.1 Clone_based_vega_gene ENSG00000259847 10 4 28.57 31 0 0.00 ENSG00000259847 0 genome.wustl.edu 37 16 65210098 65210098 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 65210098 65210098 C G SNP ENSG00000259847 ENST00000562742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-95H3.1 Clone_based_vega_gene ENSG00000259847 59 14 19.18 34 0 0.00 ENSG00000259895 0 genome.wustl.edu 37 16 2515189 2515189 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 2515189 2515189 C T SNP ENSG00000259895 ENST00000563775 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors RP11-715J22.2 Clone_based_vega_gene ENSG00000259895 41 15 26.32 25 0 0.00 ENSG00000259899 0 genome.wustl.edu 37 16 12654821 12654821 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 12654821 12654821 C A SNP ENSG00000259899 ENST00000564505 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors CTD-3037G24.3 Clone_based_vega_gene ENSG00000259899 40 10 20.00 31 0 0.00 ENSG00000259933 0 genome.wustl.edu 37 16 2142924 2142924 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2142924 2142924 G A SNP ENSG00000259933 ENST00000563284 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-304L19.1 Clone_based_vega_gene ENSG00000259933 27 4 12.90 42 0 0.00 ENSG00000259953 0 genome.wustl.edu 37 9 114798147 114798147 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 114798147 114798147 C A SNP ENSG00000259953 ENST00000563249 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-4O1.2 Clone_based_vega_gene ENSG00000259953 20 3 13.04 32 0 0.00 ENSG00000259964 0 genome.wustl.edu 37 15 71479889 71479889 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479889 71479889 G C SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 0.980 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000259964 34 17 33.33 50 0 0.00 ENSG00000259964 0 genome.wustl.edu 37 15 71479913 71479913 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479913 71479913 G A SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000259964 32 10 23.81 44 0 0.00 ENSG00000259964 0 genome.wustl.edu 37 15 71479919 71479919 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479919 71479919 G A SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000259964 30 10 25.00 39 0 0.00 ENSG00000259966 0 genome.wustl.edu 37 16 32617021 32617021 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 32617021 32617021 C T SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 339 76 18.27 330 0 0.00 ENSG00000259966 0 genome.wustl.edu 37 16 32617194 32617194 + RNA SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 32617194 32617194 G C SNP ENSG00000259966 ENST00000566952 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 69 16 18.82 94 0 0.00 ENSG00000259966 0 genome.wustl.edu 37 16 32618889 32618889 + RNA SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 32618889 32618889 T C SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 26 7 21.21 43 0 0.00 ENSG00000259966 0 genome.wustl.edu 37 16 32618896 32618896 + RNA SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 32618896 32618896 A T SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 53 15 21.74 73 0 0.00 ENSG00000260005 0 genome.wustl.edu 37 17 79207075 79207075 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 79207075 79207075 G C SNP ENSG00000260005 ENST00000575922 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000260005 9 7 43.75 24 0 0.00 ENSG00000260038 0 genome.wustl.edu 37 16 57282269 57282271 + RNA DEL AGG AGG - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 57282269 57282271 AGG - DEL ENSG00000260038 ENST00000562409 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.004 - - - no_errors RP11-407G23.4 Clone_based_vega_gene ENSG00000260038 2 7 77.78 9 0 0.00 ENSG00000260043 0 genome.wustl.edu 37 16 29680166 29680166 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29680166 29680166 A - DEL ENSG00000260043 ENST00000561857 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-368N21.4 Clone_based_vega_gene ENSG00000260043 16 4 20.00 18 0 0.00 ENSG00000260078 0 genome.wustl.edu 37 16 53403659 53403659 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 53403659 53403659 G T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260078 8 8 50.00 26 0 0.00 ENSG00000260078 0 genome.wustl.edu 37 16 53404088 53404088 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53404088 53404088 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260078 7 3 30.00 11 0 0.00 ENSG00000260078 0 genome.wustl.edu 37 16 53404808 53404808 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53404808 53404808 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260078 33 28 45.90 57 0 0.00 ENSG00000260078 0 genome.wustl.edu 37 16 53405032 53405032 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 53405032 53405032 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 0.759 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260078 49 14 22.22 69 0 0.00 ENSG00000260091 0 genome.wustl.edu 37 4 120331369 120331369 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 120331369 120331369 A C SNP ENSG00000260091 ENST00000567343 human ensembl 70_37 +1 known rna NULL NULL 0.054 - - - no_errors RP11-33B1.4 Clone_based_vega_gene ENSG00000260091 2 4 66.67 20 0 0.00 ENSG00000260124 0 genome.wustl.edu 37 20 47980769 47980769 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 47980769 47980769 C G SNP ENSG00000260124 ENST00000562732 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-791K14.2 Clone_based_vega_gene ENSG00000260124 26 25 49.02 26 0 0.00 ENSG00000260148 0 genome.wustl.edu 37 16 57125933 57125933 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 57125933 57125933 C T SNP ENSG00000260148 ENST00000565829 human ensembl 70_37 -1 known rna NULL NULL 0.490 - - - no_errors RP11-407G23.1 Clone_based_vega_gene ENSG00000260148 48 10 17.24 32 0 0.00 ENSG00000260158 0 genome.wustl.edu 37 16 32822155 32822155 + RNA SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 32822155 32822155 C G SNP ENSG00000260158 ENST00000569859 human ensembl 70_37 +1 known rna NULL NULL 0.825 - - - no_errors RP11-67H24.2 Clone_based_vega_gene ENSG00000260158 12 4 25.00 18 0 0.00 ENSG00000260171 0 genome.wustl.edu 37 2 207686885 207686885 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 207686885 207686885 C A SNP ENSG00000260171 ENST00000561915 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-95H11.1 Clone_based_vega_gene ENSG00000260171 22 3 12.00 43 0 0.00 ENSG00000260175 0 genome.wustl.edu 37 14 23744826 23744826 + Missense_Mutation SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 23744826 23744826 T A SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known missense c.1617 p.E539D 0.151 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260175 27 4 10.81 32 0 0.00 ENSG00000260175 0 genome.wustl.edu 37 14 23744829 23744829 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 23744829 23744829 C T SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known silent c.1614 p.E538 0.005 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260175 32 4 11.11 44 0 0.00 ENSG00000260175 0 genome.wustl.edu 37 14 23745586 23745586 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23745586 23745586 G A SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known missense c.857 p.S286F 0.480 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260175 15 10 40.00 25 0 0.00 ENSG00000260179 0 genome.wustl.edu 37 1 1185370 1185371 + RNA INS - - GA TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 1185370 1185371 - GA INS ENSG00000260179 ENST00000565563 human ensembl 70_37 -1 known rna NULL NULL 0.674:0.752 - - - no_errors RP5-902P8.12 Clone_based_vega_gene ENSG00000260179 4 2 33.33 9 0 0.00 ENSG00000260235 0 genome.wustl.edu 37 15 75917230 75917230 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 75917230 75917230 C T SNP ENSG00000260235 ENST00000566036 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors CTD-2026K11.3 Clone_based_vega_gene ENSG00000260235 5 6 54.55 18 0 0.00 ENSG00000260248 0 genome.wustl.edu 37 17 71172065 71172065 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 71172065 71172065 G C SNP ENSG00000260248 ENST00000569655 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-143K11.1 Clone_based_vega_gene ENSG00000260248 51 15 22.73 23 0 0.00 ENSG00000260261 0 genome.wustl.edu 37 3 195677012 195677012 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 195677012 195677012 C G SNP ENSG00000260261 ENST00000570130 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000260261 49 6 10.91 30 0 0.00 ENSG00000260261 0 genome.wustl.edu 37 3 195677915 195677915 + RNA SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 195677915 195677915 A G SNP ENSG00000260261 ENST00000570130 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000260261 9 6 40.00 16 0 0.00 ENSG00000260267 0 genome.wustl.edu 37 16 31470702 31470702 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 31470702 31470702 C G SNP ENSG00000260267 ENST00000564629 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-452L6.5 Clone_based_vega_gene ENSG00000260267 18 12 40.00 35 0 0.00 ENSG00000260276 0 genome.wustl.edu 37 16 8948920 8948920 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 8948920 8948920 G A SNP ENSG00000260276 ENST00000565934 human ensembl 70_37 +1 known rna NULL NULL 0.099 - - - no_errors RP11-77H9.2 Clone_based_vega_gene ENSG00000260276 20 8 28.57 27 0 0.00 ENSG00000260278 0 genome.wustl.edu 37 4 79695440 79695440 + RNA SNP A A T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 79695440 79695440 A T SNP ENSG00000260278 ENST00000564925 human ensembl 70_37 -1 known rna NULL NULL 0.368 - - - no_errors RP11-109G23.3 Clone_based_vega_gene ENSG00000260278 32 5 13.51 33 0 0.00 ENSG00000260288 0 genome.wustl.edu 37 15 76030204 76030204 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 76030204 76030204 C T SNP ENSG00000260288 ENST00000565686 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-24M17.4 Clone_based_vega_gene ENSG00000260288 36 6 14.29 52 0 0.00 ENSG00000260322 0 genome.wustl.edu 37 1 80580803 80580803 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 80580803 80580803 C G SNP ENSG00000260322 ENST00000567886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-339A11.2 Clone_based_vega_gene ENSG00000260322 44 8 15.38 36 0 0.00 ENSG00000260328 0 genome.wustl.edu 37 17 16917055 16917055 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 16917055 16917055 G T SNP ENSG00000260328 ENST00000562897 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-416I2.1 Clone_based_vega_gene ENSG00000260328 32 6 15.79 28 0 0.00 ENSG00000260345 0 genome.wustl.edu 37 16 57496530 57496530 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57496530 57496530 C A SNP ENSG00000260345 ENST00000567090 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC009052.12 Clone_based_vega_gene ENSG00000260345 13 5 27.78 17 0 0.00 ENSG00000260366 0 genome.wustl.edu 37 19 49429444 49429445 + RNA INS - - A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 49429444 49429445 - A INS ENSG00000260366 ENST00000569130 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors CTD-2639E6.4 Clone_based_vega_gene ENSG00000260366 37 5 11.90 26 0 0.00 ENSG00000260398 0 genome.wustl.edu 37 8 79520545 79520545 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 79520545 79520545 C G SNP ENSG00000260398 ENST00000565862 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-594N15.3 Clone_based_vega_gene ENSG00000260398 36 16 30.77 37 0 0.00 ENSG00000260415 0 genome.wustl.edu 37 12 52204038 52204039 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 52204038 52204039 - A INS ENSG00000260415 ENST00000562518 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-923I11.1 Clone_based_vega_gene ENSG00000260415 15 4 21.05 11 0 0.00 ENSG00000260468 0 genome.wustl.edu 37 16 10608701 10608701 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 10608701 10608701 T A SNP ENSG00000260468 ENST00000566787 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-27M24.3 Clone_based_vega_gene ENSG00000260468 58 8 12.12 36 0 0.00 ENSG00000260484 0 genome.wustl.edu 37 8 54301384 54301384 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 54301384 54301384 G A SNP ENSG00000260484 ENST00000566892 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1081M5.2 Clone_based_vega_gene ENSG00000260484 39 22 36.07 34 0 0.00 ENSG00000260512 0 genome.wustl.edu 37 11 106546453 106546453 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 106546453 106546453 G A SNP ENSG00000260512 ENST00000561520 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-259F12.2 Clone_based_vega_gene ENSG00000260512 46 11 19.30 16 0 0.00 ENSG00000260517 0 genome.wustl.edu 37 16 29151049 29151049 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 29151049 29151049 C T SNP ENSG00000260517 ENST00000563477 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-426C22.5 Clone_based_vega_gene ENSG00000260517 62 43 40.95 42 0 0.00 ENSG00000260518 0 genome.wustl.edu 37 16 33497306 33497306 + RNA SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 33497306 33497306 T C SNP ENSG00000260518 ENST00000565156 human ensembl 70_37 -1 known rna NULL NULL 0.912 - - - no_errors RP11-293B20.1 Clone_based_vega_gene ENSG00000260518 35 8 18.60 62 0 0.00 ENSG00000260518 0 genome.wustl.edu 37 16 33497322 33497322 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 33497322 33497322 G A SNP ENSG00000260518 ENST00000565156 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-293B20.1 Clone_based_vega_gene ENSG00000260518 38 8 17.39 78 0 0.00 ENSG00000260542 0 genome.wustl.edu 37 20 61089644 61089644 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 61089644 61089644 G A SNP ENSG00000260542 ENST00000569373 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP13-379O24.2 Clone_based_vega_gene ENSG00000260542 39 7 15.22 29 0 0.00 ENSG00000260544 0 genome.wustl.edu 37 16 32141827 32141827 + RNA SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 32141827 32141827 A G SNP ENSG00000260544 ENST00000568083 human ensembl 70_37 +1 known rna NULL NULL 0.110 - - - no_errors RP11-1166P10.9 Clone_based_vega_gene ENSG00000260544 12 8 40.00 14 0 0.00 ENSG00000260544 0 genome.wustl.edu 37 16 32144020 32144020 + RNA SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 32144020 32144020 T C SNP ENSG00000260544 ENST00000568083 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-1166P10.9 Clone_based_vega_gene ENSG00000260544 49 8 14.04 34 0 0.00 ENSG00000260599 0 genome.wustl.edu 37 19 22707492 22707492 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 22707492 22707492 C T SNP ENSG00000260599 ENST00000562262 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CTC-457E21.1 Clone_based_vega_gene ENSG00000260599 44 26 37.14 50 0 0.00 ENSG00000260617 0 genome.wustl.edu 37 16 88808325 88808325 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 88808325 88808325 G C SNP ENSG00000260617 ENST00000566114 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP5-1142A6.7 Clone_based_vega_gene ENSG00000260617 23 5 17.86 18 0 0.00 ENSG00000260628 0 genome.wustl.edu 37 16 31993369 31993371 + RNA DEL CTC CTC - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 31993369 31993371 CTC - DEL ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 65 8 10.96 37 0 0.00 ENSG00000260628 0 genome.wustl.edu 37 16 31993404 31993404 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 31993404 31993404 G A SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 50 26 34.21 66 0 0.00 ENSG00000260628 0 genome.wustl.edu 37 16 31997664 31997664 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31997664 31997664 G A SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 16 8 33.33 24 0 0.00 ENSG00000260628 0 genome.wustl.edu 37 16 32001717 32001717 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 32001717 32001717 C G SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 48 34 41.46 74 0 0.00 ENSG00000260650 0 genome.wustl.edu 37 16 66614150 66614150 + Splice_Site SNP T T G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 16 66614150 66614150 T G SNP ENSG00000260650 ENST00000568430 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-403P17.2 Clone_based_vega_gene ENSG00000260650 33 5 13.16 51 0 0.00 ENSG00000260711 0 genome.wustl.edu 37 14 92225683 92225683 + RNA SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 92225683 92225683 C A SNP ENSG00000260711 ENST00000565058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-747H7.3 Clone_based_vega_gene ENSG00000260711 23 19 45.24 35 0 0.00 ENSG00000260715 0 genome.wustl.edu 37 16 64189636 64189636 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 64189636 64189636 C A SNP ENSG00000260715 ENST00000565257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-744D14.2 Clone_based_vega_gene ENSG00000260715 35 27 43.55 32 0 0.00 ENSG00000260734 0 genome.wustl.edu 37 16 71466050 71466050 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 71466050 71466050 G A SNP ENSG00000260734 ENST00000561754 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors RP11-510M2.4 Clone_based_vega_gene ENSG00000260734 31 20 39.22 22 0 0.00 ENSG00000260738 0 genome.wustl.edu 37 13 100649282 100649283 + RNA INS - - TGTG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 100649282 100649283 - TGTG INS ENSG00000260738 ENST00000564841 human ensembl 70_37 -1 known rna NULL NULL 0.643:0.748 - - - no_errors RP11-12G12.6 Clone_based_vega_gene ENSG00000260738 18 6 25.00 23 0 0.00 ENSG00000260766 0 genome.wustl.edu 37 1 159996007 159996007 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 159996007 159996007 C T SNP ENSG00000260766 ENST00000562313 human ensembl 70_37 -1 known rna NULL NULL 0.046 - - - no_errors RP11-226L15.5 Clone_based_vega_gene ENSG00000260766 38 36 48.65 36 0 0.00 ENSG00000260803 0 genome.wustl.edu 37 16 84858 84858 + RNA SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 84858 84858 C G SNP ENSG00000260803 ENST00000568710 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors Z84812.4 Clone_based_vega_gene ENSG00000260803 80 15 15.79 59 0 0.00 ENSG00000260862 0 genome.wustl.edu 37 16 82858525 82858525 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 82858525 82858525 C T SNP ENSG00000260862 ENST00000567359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-22H5.2 Clone_based_vega_gene ENSG00000260862 57 15 20.83 35 0 0.00 ENSG00000260862 0 genome.wustl.edu 37 16 82858773 82858773 + RNA SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 82858773 82858773 A G SNP ENSG00000260862 ENST00000567359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-22H5.2 Clone_based_vega_gene ENSG00000260862 62 8 11.43 42 0 0.00 ENSG00000260868 0 genome.wustl.edu 37 2 174891563 174891563 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 174891563 174891563 G T SNP ENSG00000260868 ENST00000563759 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-394I13.1 Clone_based_vega_gene ENSG00000260868 41 5 10.87 34 0 0.00 ENSG00000260917 0 genome.wustl.edu 37 10 114586234 114586234 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 114586234 114586234 G A SNP ENSG00000260917 ENST00000564352 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-57H14.4 Clone_based_vega_gene ENSG00000260917 37 12 24.00 39 0 0.00 ENSG00000260957 0 genome.wustl.edu 37 15 62577194 62577195 + RNA INS - - T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 62577194 62577195 - T INS ENSG00000260957 ENST00000569913 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.008 - - - no_errors RP11-299H22.7 Clone_based_vega_gene ENSG00000260957 30 28 48.28 53 0 0.00 ENSG00000260986 0 genome.wustl.edu 37 15 21335238 21335238 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 21335238 21335238 C G SNP ENSG00000260986 ENST00000568414 human ensembl 70_37 -1 known rna NULL NULL 0.206 - - - no_errors RP11-854K16.3 Clone_based_vega_gene ENSG00000260986 1 5 83.33 8 0 0.00 ENSG00000260989 0 genome.wustl.edu 37 16 1660174 1660174 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1660174 1660174 C T SNP ENSG00000260989 ENST00000563162 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LA16c-395F10.2 Clone_based_vega_gene ENSG00000260989 34 7 17.07 15 0 0.00 ENSG00000260996 0 genome.wustl.edu 37 9 140189552 140189552 + RNA SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 140189552 140189552 C A SNP ENSG00000260996 ENST00000566954 human ensembl 70_37 -1 known rna NULL NULL 0.082 - - - no_errors RP13-122B23.8 Clone_based_vega_gene ENSG00000260996 31 34 52.31 32 0 0.00 ENSG00000261008 0 genome.wustl.edu 37 16 72460517 72460517 + RNA SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 72460517 72460517 G T SNP ENSG00000261008 ENST00000561611 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004158.2 Clone_based_vega_gene ENSG00000261008 28 4 12.50 52 0 0.00 ENSG00000261020 0 genome.wustl.edu 37 17 21919380 21919380 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 21919380 21919380 C T SNP ENSG00000261020 ENST00000562182 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-744K17.1 Clone_based_vega_gene ENSG00000261020 36 17 32.08 38 0 0.00 ENSG00000261037 0 genome.wustl.edu 37 5 6019249 6019249 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 6019249 6019249 G T SNP ENSG00000261037 ENST00000564741 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-471C19.1 Clone_based_vega_gene ENSG00000261037 7 3 30.00 26 0 0.00 ENSG00000261050 0 genome.wustl.edu 37 3 150183978 150183979 + RNA INS - - CA TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 150183978 150183979 - CA INS ENSG00000261050 ENST00000565554 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.020 - - - no_errors RP11-145F16.2 Clone_based_vega_gene ENSG00000261050 30 4 11.76 25 0 0.00 ENSG00000261064 0 genome.wustl.edu 37 15 32878265 32878265 + RNA SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 32878265 32878265 A G SNP ENSG00000261064 ENST00000564670 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1000B6.3 Clone_based_vega_gene ENSG00000261064 11 7 38.89 13 0 0.00 ENSG00000261064 0 genome.wustl.edu 37 15 32878265 32878265 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 32878265 32878265 A G SNP ENSG00000261064 ENST00000564670 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1000B6.3 Clone_based_vega_gene ENSG00000261064 25 5 16.67 28 0 0.00 ENSG00000261090 0 genome.wustl.edu 37 16 23034721 23034722 + RNA INS - - ACAC TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 23034721 23034722 - ACAC INS ENSG00000261090 ENST00000567395 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.065 - - - no_errors RP11-20G6.2 Clone_based_vega_gene ENSG00000261090 41 5 10.87 19 0 0.00 ENSG00000261096 0 genome.wustl.edu 37 2 232677017 232677018 + RNA INS - - A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 232677017 232677018 - A INS ENSG00000261096 ENST00000563949 human ensembl 70_37 +1 known rna NULL NULL 0.014:0.017 - - - no_errors RP11-690I21.2 Clone_based_vega_gene ENSG00000261096 12 3 20.00 18 0 0.00 ENSG00000261135 0 genome.wustl.edu 37 1 16842000 16842000 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 16842000 16842000 C T SNP ENSG00000261135 ENST00000562878 human ensembl 70_37 +1 known rna NULL NULL 0.116 - - - no_errors RP4-798A10.7 Clone_based_vega_gene ENSG00000261135 64 10 13.51 58 0 0.00 ENSG00000261167 0 genome.wustl.edu 37 3 131175355 131175355 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 131175355 131175355 C T SNP ENSG00000261167 ENST00000565095 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-517B11.7 Clone_based_vega_gene ENSG00000261167 26 12 31.58 38 0 0.00 ENSG00000261170 0 genome.wustl.edu 37 16 74456050 74456050 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 74456050 74456050 C T SNP ENSG00000261170 ENST00000566506 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-252A24.5 Clone_based_vega_gene ENSG00000261170 18 10 35.71 13 0 0.00 ENSG00000261185 0 genome.wustl.edu 37 1 182612354 182612354 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 182612354 182612354 G T SNP ENSG00000261185 ENST00000570153 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors RP11-317P15.5 Clone_based_vega_gene ENSG00000261185 35 4 10.26 33 0 0.00 ENSG00000261226 0 genome.wustl.edu 37 16 89003293 89003293 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 89003293 89003293 C T SNP ENSG00000261226 ENST00000561980 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-830F9.7 Clone_based_vega_gene ENSG00000261226 23 13 36.11 22 0 0.00 ENSG00000261253 0 genome.wustl.edu 37 16 89391072 89391072 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 89391072 89391072 C T SNP ENSG00000261253 ENST00000562995 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors AC137932.6 Clone_based_vega_gene ENSG00000261253 44 6 12.00 31 0 0.00 ENSG00000261253 0 genome.wustl.edu 37 16 89391419 89391419 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 89391419 89391419 C G SNP ENSG00000261253 ENST00000562995 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors AC137932.6 Clone_based_vega_gene ENSG00000261253 33 8 19.51 31 0 0.00 ENSG00000261254 0 genome.wustl.edu 37 1 100497373 100497373 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 100497373 100497373 C A SNP ENSG00000261254 ENST00000564623 human ensembl 70_37 +1 known rna NULL NULL 0.149 - - - no_errors RP4-714D9.5 Clone_based_vega_gene ENSG00000261254 37 5 11.90 38 0 0.00 ENSG00000261303 0 genome.wustl.edu 37 15 79023387 79023387 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 79023387 79023387 C G SNP ENSG00000261303 ENST00000568337 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-160C18.2 Clone_based_vega_gene ENSG00000261303 79 17 17.71 124 0 0.00 ENSG00000261353 0 genome.wustl.edu 37 6 26527477 26527477 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 26527477 26527477 A G SNP ENSG00000261353 ENST00000567732 human ensembl 70_37 +1 known rna NULL NULL 0.126 - - - no_errors CTA-14H9.5 Clone_based_vega_gene ENSG00000261353 8 46 85.19 29 0 0.00 ENSG00000261368 0 genome.wustl.edu 37 10 52724049 52724049 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 52724049 52724049 C T SNP ENSG00000261368 ENST00000561565 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-96B5.4 Clone_based_vega_gene ENSG00000261368 46 12 20.69 39 0 0.00 ENSG00000261400 0 genome.wustl.edu 37 19 32081070 32081070 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 32081070 32081070 G A SNP ENSG00000261400 ENST00000562167 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011525.2 Clone_based_vega_gene ENSG00000261400 28 40 57.97 25 0 0.00 ENSG00000261400 0 genome.wustl.edu 37 19 32081958 32081958 + RNA SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 32081958 32081958 T C SNP ENSG00000261400 ENST00000562167 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011525.2 Clone_based_vega_gene ENSG00000261400 58 11 15.94 37 0 0.00 ENSG00000261409 0 genome.wustl.edu 37 X 107965690 107965690 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 107965690 107965690 G A SNP ENSG00000261409 ENST00000564206 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors RP6-24A23.7 Clone_based_vega_gene ENSG00000261409 132 79 37.26 100 0 0.00 ENSG00000261423 0 genome.wustl.edu 37 15 72765218 72765218 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 72765218 72765218 G T SNP ENSG00000261423 ENST00000565181 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-1007O24.3 Clone_based_vega_gene ENSG00000261423 29 4 12.12 51 0 0.00 ENSG00000261423 0 genome.wustl.edu 37 15 72766720 72766720 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 72766720 72766720 C T SNP ENSG00000261423 ENST00000565181 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-1007O24.3 Clone_based_vega_gene ENSG00000261423 49 10 16.95 56 0 0.00 ENSG00000261448 0 genome.wustl.edu 37 16 17232486 17232486 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 17232486 17232486 G T SNP ENSG00000261448 ENST00000567344 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2576D5.4 Clone_based_vega_gene ENSG00000261448 5 6 54.55 12 0 0.00 ENSG00000261460 0 genome.wustl.edu 37 15 72638463 72638463 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 72638463 72638463 C G SNP ENSG00000261460 ENST00000570175 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 38 9 19.15 27 0 0.00 ENSG00000261478 0 genome.wustl.edu 37 15 90052228 90052228 + RNA SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 90052228 90052228 T C SNP ENSG00000261478 ENST00000567484 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-429B14.4 Clone_based_vega_gene ENSG00000261478 33 8 19.51 19 0 0.00 ENSG00000261478 0 genome.wustl.edu 37 15 90052252 90052252 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 90052252 90052252 G A SNP ENSG00000261478 ENST00000567484 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-429B14.4 Clone_based_vega_gene ENSG00000261478 31 6 16.22 22 0 0.00 ENSG00000261505 0 genome.wustl.edu 37 16 1370110 1370110 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 1370110 1370110 G T SNP ENSG00000261505 ENST00000567829 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors LA16c-358B7.3 Clone_based_vega_gene ENSG00000261505 26 11 29.73 51 0 0.00 ENSG00000261544 0 genome.wustl.edu 37 15 66058980 66058980 + RNA SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 66058980 66058980 G T SNP ENSG00000261544 ENST00000567396 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-16E23.3 Clone_based_vega_gene ENSG00000261544 19 11 36.67 30 0 0.00 ENSG00000261546 0 genome.wustl.edu 37 16 89180980 89180980 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 89180980 89180980 G A SNP ENSG00000261546 ENST00000562782 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2555A7.3 Clone_based_vega_gene ENSG00000261546 6 8 57.14 16 0 0.00 ENSG00000261550 0 genome.wustl.edu 37 16 53069821 53069821 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 53069821 53069821 G A SNP ENSG00000261550 ENST00000562178 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors RP11-467J12.4 Clone_based_vega_gene ENSG00000261550 25 13 34.21 28 0 0.00 ENSG00000261552 0 genome.wustl.edu 37 16 29000537 29000537 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 29000537 29000537 G A SNP ENSG00000261552 ENST00000561471 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-264B17.5 Clone_based_vega_gene ENSG00000261552 37 22 37.29 14 0 0.00 ENSG00000261575 0 genome.wustl.edu 37 17 44344668 44344668 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 44344668 44344668 C T SNP ENSG00000261575 ENST00000570002 human ensembl 70_37 +1 known rna NULL NULL 0.215 - - - no_errors RP11-259G18.1 Clone_based_vega_gene ENSG00000261575 75 17 18.28 57 0 0.00 ENSG00000261578 0 genome.wustl.edu 37 11 76512544 76512544 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 76512544 76512544 G T SNP ENSG00000261578 ENST00000566747 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-21L23.2 Clone_based_vega_gene ENSG00000261578 37 5 11.63 39 0 0.00 ENSG00000261586 0 genome.wustl.edu 37 12 52213324 52213324 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 52213324 52213324 G A SNP ENSG00000261586 ENST00000562343 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-923I11.6 Clone_based_vega_gene ENSG00000261586 14 6 30.00 33 0 0.00 ENSG00000261586 0 genome.wustl.edu 37 12 52216041 52216041 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52216041 52216041 C T SNP ENSG00000261586 ENST00000562343 human ensembl 70_37 +1 putative rna NULL NULL 0.998 - - - no_errors RP11-923I11.6 Clone_based_vega_gene ENSG00000261586 82 47 36.43 105 0 0.00 ENSG00000261658 0 genome.wustl.edu 37 8 70580973 70580973 + RNA SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 70580973 70580973 T G SNP ENSG00000261658 ENST00000562490 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-102F4.3 Clone_based_vega_gene ENSG00000261658 41 29 40.85 32 0 0.00 ENSG00000261693 0 genome.wustl.edu 37 8 143486098 143486098 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 143486098 143486098 G A SNP ENSG00000261693 ENST00000569285 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-467H17.1 Clone_based_vega_gene ENSG00000261693 31 11 26.19 41 0 0.00 ENSG00000261705 0 genome.wustl.edu 37 16 66921918 66921918 + RNA SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 66921918 66921918 T G SNP ENSG00000261705 ENST00000561475 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-61A14.2 Clone_based_vega_gene ENSG00000261705 12 7 36.84 19 0 0.00 ENSG00000261711 0 genome.wustl.edu 37 16 34712972 34712972 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 34712972 34712972 A C SNP ENSG00000261711 ENST00000569028 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 15 3 16.67 22 0 0.00 ENSG00000261715 0 genome.wustl.edu 37 18 37650343 37650343 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 37650343 37650343 G A SNP ENSG00000261715 ENST00000566101 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-653G8.2 Clone_based_vega_gene ENSG00000261715 26 27 50.94 31 0 0.00 ENSG00000261727 0 genome.wustl.edu 37 16 32095751 32095751 + RNA SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 32095751 32095751 C G SNP ENSG00000261727 ENST00000566806 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-1166P10.6 Clone_based_vega_gene ENSG00000261727 7 7 43.75 11 0 0.00 ENSG00000261754 0 genome.wustl.edu 37 19 35304114 35304114 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 35304114 35304114 G C SNP ENSG00000261754 ENST00000561778 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-523E23.1 Clone_based_vega_gene ENSG00000261754 41 36 46.75 29 0 0.00 ENSG00000261759 0 genome.wustl.edu 37 16 19132370 19132370 + RNA DEL T T - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 19132370 19132370 T - DEL ENSG00000261759 ENST00000567236 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 26 4 13.33 41 0 0.00 ENSG00000261759 0 genome.wustl.edu 37 16 19132882 19132882 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 19132882 19132882 G C SNP ENSG00000261759 ENST00000567236 human ensembl 70_37 -1 known rna NULL NULL 0.274 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 30 4 11.76 53 0 0.00 ENSG00000261770 0 genome.wustl.edu 37 19 28251724 28251724 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 28251724 28251724 C G SNP ENSG00000261770 ENST00000562493 human ensembl 70_37 -1 known rna NULL NULL 0.297 - - - no_errors CTC-459F4.1 Clone_based_vega_gene ENSG00000261770 52 10 16.13 28 0 0.00 ENSG00000261799 0 genome.wustl.edu 37 12 385707 385707 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 385707 385707 G A SNP ENSG00000261799 ENST00000570140 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-283I3.6 Clone_based_vega_gene ENSG00000261799 24 17 41.46 22 0 0.00 ENSG00000262115 0 genome.wustl.edu 37 17 79173392 79173392 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 79173392 79173392 G A SNP ENSG00000262115 ENST00000571085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-455O6.2 Clone_based_vega_gene ENSG00000262115 40 5 11.11 74 0 0.00 ENSG00000262151 0 genome.wustl.edu 37 16 10971118 10971118 + RNA SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 10971118 10971118 G T SNP ENSG00000262151 ENST00000573071 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-876N24.2 Clone_based_vega_gene ENSG00000262151 32 11 25.58 58 0 0.00 ENSG00000262160 0 genome.wustl.edu 37 16 68260232 68260232 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 68260232 68260232 C G SNP ENSG00000262160 ENST00000571197 human ensembl 70_37 -1 known rna NULL NULL 0.235 - - - no_errors RP11-96D1.11 Clone_based_vega_gene ENSG00000262160 31 21 40.38 57 0 0.00 ENSG00000262223 0 genome.wustl.edu 37 17 79349960 79349960 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 79349960 79349960 C T SNP ENSG00000262223 ENST00000570301 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-1055B8.3 Clone_based_vega_gene ENSG00000262223 30 34 52.31 41 0 0.00 ENSG00000262332 0 genome.wustl.edu 37 16 16317897 16317897 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 16317897 16317897 C T SNP ENSG00000262332 ENST00000574883 human ensembl 70_37 +1 known rna NULL NULL 0.227 - - - no_errors RP11-517A5.7 Clone_based_vega_gene ENSG00000262332 4 3 42.86 9 0 0.00 ENSG00000262415 0 genome.wustl.edu 37 17 80632388 80632389 + RNA INS - - C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 80632388 80632389 - C INS ENSG00000262415 ENST00000574080 human ensembl 70_37 -1 known rna NULL NULL 0.020:0.036 - - - no_errors RP11-388C12.2 Clone_based_vega_gene ENSG00000262415 48 18 27.27 21 0 0.00 ENSG00000262415 0 genome.wustl.edu 37 17 80632513 80632514 + RNA INS - - A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 17 80632513 80632514 - A INS ENSG00000262415 ENST00000574080 human ensembl 70_37 -1 known rna NULL NULL 0.172:0.166 - - - no_errors RP11-388C12.2 Clone_based_vega_gene ENSG00000262415 38 6 13.64 15 0 0.00 ENSG00000262557 0 genome.wustl.edu 37 16 53525642 53525642 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 53525642 53525642 C T SNP ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000262557 52 14 21.21 56 0 0.00 ENSG00000262557 0 genome.wustl.edu 37 16 53526459 53526460 + RNA INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 53526459 53526460 - A INS ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 0.196:0.340 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000262557 7 6 46.15 20 0 0.00 ENSG00000262557 0 genome.wustl.edu 37 16 53526558 53526558 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 53526558 53526558 G A SNP ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 0.930 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000262557 16 8 33.33 22 0 0.00 ENSG00000262580 0 genome.wustl.edu 37 17 78175388 78175388 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 78175388 78175388 T C SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.238 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262580 9 7 43.75 18 0 0.00 ENSG00000262580 0 genome.wustl.edu 37 17 78175491 78175491 + RNA SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 78175491 78175491 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262580 45 17 27.42 45 0 0.00 ENSG00000262580 0 genome.wustl.edu 37 17 78175927 78175927 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 78175927 78175927 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262580 90 36 28.57 158 0 0.00 ENSG00000262580 0 genome.wustl.edu 37 17 78178264 78178264 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78178264 78178264 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262580 3 10 76.92 35 0 0.00 ENSG00000262583 0 genome.wustl.edu 37 16 75538661 75538661 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 75538661 75538661 C T SNP ENSG00000262583 ENST00000571737 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors RP11-77K12.5 Clone_based_vega_gene ENSG00000262583 12 11 47.83 22 0 0.00 ENSG00000262621 0 genome.wustl.edu 37 16 3536030 3536030 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 3536030 3536030 C A SNP ENSG00000262621 ENST00000575785 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LA16c-306E5.2 Clone_based_vega_gene ENSG00000262621 5 14 73.68 37 0 0.00 ENSG00000262657 0 genome.wustl.edu 37 16 31924622 31924622 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 31924622 31924622 G T SNP ENSG00000262657 ENST00000575471 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors RP11-170L3.8 Clone_based_vega_gene ENSG00000262657 27 18 40.00 19 0 0.00 ENSG00000262712 0 genome.wustl.edu 37 16 4387793 4387793 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 4387793 4387793 G C SNP ENSG00000262712 ENST00000574705 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-295D4.1 Clone_based_vega_gene ENSG00000262712 8 5 38.46 11 0 0.00 ENSG00000262732 0 genome.wustl.edu 37 16 14025863 14025863 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 14025863 14025863 G C SNP ENSG00000262732 ENST00000575137 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2135D7.2 Clone_based_vega_gene ENSG00000262732 18 8 30.77 11 0 0.00 ENSG00000262772 0 genome.wustl.edu 37 17 77801173 77801173 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 77801173 77801173 C A SNP ENSG00000262772 ENST00000576963 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-353N14.2 Clone_based_vega_gene ENSG00000262772 41 5 10.87 27 0 0.00 ENSG00000262772 0 genome.wustl.edu 37 17 77801194 77801194 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 77801194 77801194 G A SNP ENSG00000262772 ENST00000576963 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-353N14.2 Clone_based_vega_gene ENSG00000262772 44 34 43.59 20 0 0.00 ENSG00000262791 0 genome.wustl.edu 37 17 1641656 1641656 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641656 1641656 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 14 17 54.84 57 0 0.00 ENSG00000262791 0 genome.wustl.edu 37 17 1641719 1641719 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641719 1641719 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 9 5 35.71 27 0 0.00 ENSG00000262791 0 genome.wustl.edu 37 17 1641739 1641739 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641739 1641739 C G SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 5 6 54.55 23 0 0.00 ENSG00000262791 0 genome.wustl.edu 37 17 1641793 1641793 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641793 1641793 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 3 12 80.00 14 0 0.00 ENSG00000262820 0 genome.wustl.edu 37 16 68598744 68598745 + RNA INS - - TTT TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 68598744 68598745 - TTT INS ENSG00000262820 ENST00000571720 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-615I2.7 Clone_based_vega_gene ENSG00000262820 44 13 22.81 35 0 0.00 ENSG00000262839 0 genome.wustl.edu 37 16 67467632 67467632 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 67467632 67467632 T C SNP ENSG00000262839 ENST00000571772 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-297D21.3 Clone_based_vega_gene ENSG00000262839 40 6 13.04 27 0 0.00 ENSG00000262873 0 genome.wustl.edu 37 17 78991807 78991807 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 78991807 78991807 G A SNP ENSG00000262873 ENST00000572036 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors CTD-2561B21.11 Clone_based_vega_gene ENSG00000262873 57 57 50.00 34 0 0.00 ENSG00000262920 0 genome.wustl.edu 37 17 171366 171366 + RNA SNP A A G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 171366 171366 A G SNP ENSG00000262920 ENST00000570501 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-1260E13.1 Clone_based_vega_gene ENSG00000262920 26 6 18.75 16 0 0.00 ENSG00000262966 0 genome.wustl.edu 37 17 9077214 9077214 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 9077214 9077214 G C SNP ENSG00000262966 ENST00000574307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85B7.2 Clone_based_vega_gene ENSG00000262966 33 6 15.38 33 0 0.00 ENSG00000263120 0 genome.wustl.edu 37 17 55061697 55061697 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 55061697 55061697 C G SNP ENSG00000263120 ENST00000572877 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors RP5-1107A17.4 Clone_based_vega_gene ENSG00000263120 22 6 21.43 17 0 0.00 ENSG00000263126 0 genome.wustl.edu 37 16 67917366 67917366 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 67917366 67917366 C A SNP ENSG00000263126 ENST00000572067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 27 12 30.77 33 0 0.00 ENSG00000263126 0 genome.wustl.edu 37 16 67917781 67917781 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67917781 67917781 C G SNP ENSG00000263126 ENST00000572067 human ensembl 70_37 +1 known rna NULL NULL 0.850 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 13 8 38.10 36 0 0.00 ENSG00000263154 0 genome.wustl.edu 37 17 79347579 79347579 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 79347579 79347579 C T SNP ENSG00000263154 ENST00000574472 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-1055B8.2 Clone_based_vega_gene ENSG00000263154 32 16 33.33 27 0 0.00 ENSG00000263164 0 genome.wustl.edu 37 17 5144336 5144337 + Splice_Site INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 5144336 5144337 - A INS ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000263164 31 5 13.89 48 0 0.00 ENSG00000263164 0 genome.wustl.edu 37 17 5144337 5144337 + Splice_Site SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 5144337 5144337 T C SNP ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000263164 33 5 13.16 48 0 0.00 ENSG00000263164 0 genome.wustl.edu 37 17 5144571 5144571 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 5144571 5144571 T C SNP ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known rna NULL NULL 0.102 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000263164 59 8 11.94 28 0 0.00 ENSG00000263272 0 genome.wustl.edu 37 17 5328478 5328478 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 5328478 5328478 C T SNP ENSG00000263272 ENST00000575890 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-524C5.2 Clone_based_vega_gene ENSG00000263272 8 4 33.33 11 0 0.00 ENSG00000263307 0 genome.wustl.edu 37 16 11945509 11945509 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 11945509 11945509 C T SNP ENSG00000263307 ENST00000574364 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-166B2.8 Clone_based_vega_gene ENSG00000263307 9 7 43.75 17 0 0.00 ENSG00000263544 0 genome.wustl.edu 37 GL000220.1 118253 118253 + RNA SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 GL000220.1 118253 118253 C T SNP ENSG00000263544 ENST00000582153 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors AL592188.3 Clone_based_ensembl_gene ENSG00000263544 8 7 46.67 9 0 0.00 ENSG00000263544 0 genome.wustl.edu 37 GL000220.1 118253 118253 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 GL000220.1 118253 118253 C T SNP ENSG00000263544 ENST00000582153 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors AL592188.3 Clone_based_ensembl_gene ENSG00000263544 10 10 50.00 14 0 0.00 ENSG00000263606 0 genome.wustl.edu 37 18 2945673 2945673 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 2945673 2945673 C T SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 0.295 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 29 26 47.27 81 0 0.00 ENSG00000263606 0 genome.wustl.edu 37 18 2946117 2946117 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 2946117 2946117 C A SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 0.913 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 29 4 12.12 35 0 0.00 ENSG00000263606 0 genome.wustl.edu 37 18 2946312 2946312 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 2946312 2946312 G A SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 14 7 33.33 33 0 0.00 ENSG00000263606 0 genome.wustl.edu 37 18 2946398 2946398 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 2946398 2946398 C T SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 36 12 25.00 46 0 0.00 ENSG00000263618 0 genome.wustl.edu 37 18 14915534 14915534 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 14915534 14915534 C T SNP ENSG00000263618 ENST00000584414 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-527H14.4 Clone_based_vega_gene ENSG00000263618 35 4 10.26 34 0 0.00 ENSG00000263624 0 genome.wustl.edu 37 17 17071929 17071929 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 17071929 17071929 G A SNP ENSG00000263624 ENST00000584203 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-45M22.3 Clone_based_vega_gene ENSG00000263624 12 16 57.14 12 0 0.00 ENSG00000263624 0 genome.wustl.edu 37 17 17072016 17072016 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17072016 17072016 C G SNP ENSG00000263624 ENST00000584203 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-45M22.3 Clone_based_vega_gene ENSG00000263624 30 9 23.08 23 0 0.00 ENSG00000263706 0 genome.wustl.edu 37 10 111764077 111764077 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 111764077 111764077 G T SNP ENSG00000263706 ENST00000584756 human ensembl 70_37 +1 novel rna NULL NULL 0.056 - - - no_errors Metazoa_SRP RFAM ENSG00000263706 30 4 11.76 36 0 0.00 ENSG00000263713 0 genome.wustl.edu 37 X 149657845 149657845 + RNA SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 149657845 149657845 T C SNP ENSG00000263713 ENST00000401364 human ensembl 70_37 -1 novel rna NULL NULL 0.010 - - - no_errors AC109994.1 Clone_based_ensembl_gene ENSG00000263713 21 19 45.24 42 0 0.00 ENSG00000263826 0 genome.wustl.edu 37 3 186501297 186501297 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186501297 186501297 G C SNP ENSG00000263826 ENST00000577781 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000263826 119 22 15.28 67 0 0.00 ENSG00000263826 0 genome.wustl.edu 37 3 186501340 186501340 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 186501340 186501340 A C SNP ENSG00000263826 ENST00000577781 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000263826 43 20 31.75 58 0 0.00 ENSG00000263888 0 genome.wustl.edu 37 8 92151670 92151671 + RNA INS - - TTT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 92151670 92151671 - TTT INS ENSG00000263888 ENST00000582630 human ensembl 70_37 +1 novel rna NULL NULL 0.153:0.158 - - - no_errors Metazoa_SRP RFAM ENSG00000263888 30 5 14.29 21 0 0.00 ENSG00000264072 0 genome.wustl.edu 37 18 10628565 10628565 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 10628565 10628565 G T SNP ENSG00000264072 ENST00000579413 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-856M7.4 Clone_based_vega_gene ENSG00000264072 22 6 21.43 21 0 0.00 ENSG00000264132 0 genome.wustl.edu 37 7 102120598 102120598 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 102120598 102120598 C T SNP ENSG00000264132 ENST00000583109 human ensembl 70_37 +1 novel rna NULL NULL 0.168 - - - no_errors AC093668.4 Clone_based_ensembl_gene ENSG00000264132 79 15 15.96 28 0 0.00 ENSG00000264177 0 genome.wustl.edu 37 17 18291278 18291279 + RNA INS - - G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 18291278 18291279 - G INS ENSG00000264177 ENST00000579352 human ensembl 70_37 -1 known rna NULL NULL 0.309:0.304 - - - no_errors RP1-37N7.1 Clone_based_vega_gene ENSG00000264177 20 14 41.18 14 0 0.00 ENSG00000264184 0 genome.wustl.edu 37 X 24304668 24304668 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 24304668 24304668 G T SNP ENSG00000264184 ENST00000577723 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC096509.1 Clone_based_ensembl_gene ENSG00000264184 16 8 33.33 37 0 0.00 ENSG00000264212 0 genome.wustl.edu 37 18 73970021 73970021 + RNA SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 73970021 73970021 A C SNP ENSG00000264212 ENST00000579833 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-94B19.3 Clone_based_vega_gene ENSG00000264212 73 9 10.98 36 0 0.00 ENSG00000264215 0 genome.wustl.edu 37 17 20692783 20692783 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 20692783 20692783 T G SNP ENSG00000264215 ENST00000578585 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors RP11-283C24.1 Clone_based_vega_gene ENSG00000264215 5 5 50.00 10 0 0.00 ENSG00000264443 0 genome.wustl.edu 37 1 24865892 24865892 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 24865892 24865892 C T SNP ENSG00000264443 ENST00000577528 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors RP4-594I10.3 Clone_based_vega_gene ENSG00000264443 48 7 12.73 34 0 0.00 ENSG00000264446 0 genome.wustl.edu 37 12 34180241 34180241 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 34180241 34180241 T G SNP ENSG00000264446 ENST00000401300 human ensembl 70_37 -1 novel rna NULL NULL 0.036 - - - no_errors AC046130.1 Clone_based_ensembl_gene ENSG00000264446 30 14 31.82 72 0 0.00 ENSG00000264467 0 genome.wustl.edu 37 X 122844839 122844839 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 122844839 122844839 C A SNP ENSG00000264467 ENST00000584278 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors Metazoa_SRP RFAM ENSG00000264467 28 5 14.71 27 0 0.00 ENSG00000264526 0 genome.wustl.edu 37 13 50526720 50526721 + RNA INS - - AT TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 50526720 50526721 - AT INS ENSG00000264526 ENST00000579259 human ensembl 70_37 -1 novel rna NULL NULL 0.171:0.169 - - - no_errors AL136123.1 Clone_based_ensembl_gene ENSG00000264526 38 11 22.45 20 0 0.00 ENSG00000264538 0 genome.wustl.edu 37 17 29085344 29085344 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 29085344 29085344 C T SNP ENSG00000264538 ENST00000497969 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SUZ12P Clone_based_vega_gene ENSG00000264538 68 10 12.82 31 0 0.00 ENSG00000264558 0 genome.wustl.edu 37 17 45759980 45759980 + RNA SNP C C G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 45759980 45759980 C G SNP ENSG00000264558 ENST00000578482 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-138C9.1 Clone_based_vega_gene ENSG00000264558 33 40 54.79 46 0 0.00 ENSG00000264622 0 genome.wustl.edu 37 17 33185972 33185972 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 33185972 33185972 G T SNP ENSG00000264622 ENST00000579327 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-642M2.1 Clone_based_vega_gene ENSG00000264622 17 3 15.00 34 0 0.00 ENSG00000264629 0 genome.wustl.edu 37 22 23077093 23077093 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23077093 23077093 C G SNP ENSG00000264629 ENST00000579613 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors D87007.1 Clone_based_ensembl_gene ENSG00000264629 118 16 11.94 29 0 0.00 ENSG00000264629 0 genome.wustl.edu 37 22 23077103 23077103 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23077103 23077103 C G SNP ENSG00000264629 ENST00000579613 human ensembl 70_37 +1 novel rna NULL NULL 0.348 - - - no_errors D87007.1 Clone_based_ensembl_gene ENSG00000264629 122 18 12.77 30 0 0.00 ENSG00000264630 0 genome.wustl.edu 37 17 64400256 64400256 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 64400256 64400256 C G SNP ENSG00000264630 ENST00000584614 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-4F22.2 Clone_based_vega_gene ENSG00000264630 42 29 40.85 39 0 0.00 ENSG00000264673 0 genome.wustl.edu 37 17 16692371 16692371 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 16692371 16692371 G C SNP ENSG00000264673 ENST00000578710 human ensembl 70_37 -1 known rna NULL NULL 0.165 - - - no_errors RP11-92B11.3 Clone_based_vega_gene ENSG00000264673 46 28 37.84 57 0 0.00 ENSG00000264714 0 genome.wustl.edu 37 18 10727372 10727372 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 10727372 10727372 C A SNP ENSG00000264714 ENST00000581724 human ensembl 70_37 +1 known rna NULL NULL 0.087 - - - no_errors RP11-21G15.1 Clone_based_vega_gene ENSG00000264714 28 11 28.21 36 0 0.00 ENSG00000264759 0 genome.wustl.edu 37 X 114938152 114938152 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 114938152 114938152 C T SNP ENSG00000264759 ENST00000580961 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC005000.2 Clone_based_ensembl_gene ENSG00000264759 34 4 10.53 30 0 0.00 ENSG00000264771 0 genome.wustl.edu 37 15 99797757 99797757 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 99797757 99797757 G A SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.005 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000264771 19 7 26.92 21 0 0.00 ENSG00000264771 0 genome.wustl.edu 37 15 99797792 99797793 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 99797792 99797793 - T INS ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.008:0.008 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000264771 21 18 46.15 33 0 0.00 ENSG00000264771 0 genome.wustl.edu 37 15 99797794 99797794 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 99797794 99797794 C T SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.007 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000264771 22 18 45.00 36 0 0.00 ENSG00000264771 0 genome.wustl.edu 37 15 99797869 99797869 + RNA SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 15 99797869 99797869 G A SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.637 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000264771 46 24 34.29 70 0 0.00 ENSG00000264812 0 genome.wustl.edu 37 17 80358595 80358595 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 80358595 80358595 T C SNP ENSG00000264812 ENST00000579188 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP13-20L14.4 Clone_based_vega_gene ENSG00000264812 116 36 23.68 44 0 0.00 ENSG00000264819 0 genome.wustl.edu 37 X 1410988 1410988 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 1410988 1410988 C T SNP ENSG00000264819 ENST00000580687 human ensembl 70_37 +1 novel rna NULL NULL 0.569 - - - no_errors BX649553.4 Clone_based_ensembl_gene ENSG00000264819 85 37 30.33 112 0 0.00 ENSG00000265114 0 genome.wustl.edu 37 17 22192227 22192227 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 22192227 22192227 C T SNP ENSG00000265114 ENST00000577879 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-285M22.1 Clone_based_vega_gene ENSG00000265114 33 9 21.43 28 0 0.00 ENSG00000265114 0 genome.wustl.edu 37 17 22192669 22192669 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 22192669 22192669 C T SNP ENSG00000265114 ENST00000577879 human ensembl 70_37 +1 known rna NULL NULL 0.086 - - - no_errors RP11-285M22.1 Clone_based_vega_gene ENSG00000265114 6 5 45.45 19 0 0.00 ENSG00000265179 0 genome.wustl.edu 37 18 905623 905623 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 905623 905623 G A SNP ENSG00000265179 ENST00000577358 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-672L10.2 Clone_based_vega_gene ENSG00000265179 22 12 35.29 23 0 0.00 ENSG00000265209 0 genome.wustl.edu 37 16 57908380 57908381 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 57908380 57908381 - A INS ENSG00000265209 ENST00000580935 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC010543.1 Clone_based_ensembl_gene ENSG00000265209 18 2 10.00 15 0 0.00 ENSG00000265263 0 genome.wustl.edu 37 17 19238692 19238692 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 19238692 19238692 C G SNP ENSG00000265263 ENST00000581122 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-135L13.4 Clone_based_vega_gene ENSG00000265263 40 6 13.04 45 0 0.00 ENSG00000265267 0 genome.wustl.edu 37 2 32048104 32048104 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 32048104 32048104 C T SNP ENSG00000265267 ENST00000580521 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL121652.3 Clone_based_ensembl_gene ENSG00000265267 12 4 25.00 16 0 0.00 ENSG00000265413 0 genome.wustl.edu 37 18 8403574 8403575 + RNA INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 8403574 8403575 - A INS ENSG00000265413 ENST00000578897 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.000 - - - no_errors RP11-789C17.1 Clone_based_vega_gene ENSG00000265413 53 13 19.70 35 0 0.00 ENSG00000265419 0 genome.wustl.edu 37 6 93354509 93354509 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 93354509 93354509 C A SNP ENSG00000265419 ENST00000583000 human ensembl 70_37 +1 novel rna NULL NULL 0.224 - - - no_errors AL359987.1 Clone_based_ensembl_gene ENSG00000265419 35 18 33.96 21 0 0.00 ENSG00000265489 0 genome.wustl.edu 37 17 12663829 12663829 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 12663829 12663829 T A SNP ENSG00000265489 ENST00000584772 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 18 13 41.94 25 0 0.00 ENSG00000265489 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 12663850 12663850 A - DEL ENSG00000265489 ENST00000584772 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 20 4 16.67 29 0 0.00 ENSG00000265629 0 genome.wustl.edu 37 2 14775374 14775374 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 14775374 14775374 G A SNP ENSG00000265629 ENST00000581929 human ensembl 70_37 +1 known silent c.48 p.K16 0.001 NULL NULL - no_errors AC011897.1 Clone_based_ensembl_gene ENSG00000265629 26 4 13.33 30 0 0.00 ENSG00000265784 0 genome.wustl.edu 37 17 37077979 37077979 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37077979 37077979 C G SNP ENSG00000265784 ENST00000580121 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP1-56K13.3 Clone_based_vega_gene ENSG00000265784 6 5 45.45 10 0 0.00 ENSG00000265788 0 genome.wustl.edu 37 17 25989944 25989944 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 25989944 25989944 G A SNP ENSG00000265788 ENST00000583179 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-19P22.5 Clone_based_vega_gene ENSG00000265788 135 24 15.09 135 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29369075 29369075 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29369075 29369075 G A SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.733 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 25 17 40.48 33 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29369083 29369083 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29369083 29369083 G C SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.842 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 25 19 43.18 35 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29369282 29369282 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 29369282 29369282 G A SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 81 41 33.61 185 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29374484 29374484 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 29374484 29374484 C T SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 117 56 32.37 163 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29374613 29374613 + RNA SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 29374613 29374613 G T SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 108 42 27.81 137 0 0.00 ENSG00000265798 0 genome.wustl.edu 37 17 29374691 29374691 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 29374691 29374691 G A SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.119 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000265798 85 57 40.14 119 0 0.00 ENSG00000265803 0 genome.wustl.edu 37 6 158596078 158596078 + RNA SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 158596078 158596078 A G SNP ENSG00000265803 ENST00000580588 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL590703.1 Clone_based_ensembl_gene ENSG00000265803 4 6 60.00 9 0 0.00 ENSG00000265888 0 genome.wustl.edu 37 18 28742592 28742592 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 28742592 28742592 G T SNP ENSG00000265888 ENST00000581836 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-408H20.2 Clone_based_vega_gene ENSG00000265888 36 11 23.40 26 0 0.00 ENSG00000265888 0 genome.wustl.edu 37 18 28742592 28742592 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 28742592 28742592 G T SNP ENSG00000265888 ENST00000581836 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-408H20.2 Clone_based_vega_gene ENSG00000265888 46 9 16.36 58 0 0.00 ENSG00000265901 0 genome.wustl.edu 37 4 9601972 9601972 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 9601972 9601972 C T SNP ENSG00000265901 ENST00000459267 human ensembl 70_37 -1 novel rna NULL NULL 0.357 - - - no_errors AC097493.1 Clone_based_ensembl_gene ENSG00000265901 46 9 16.36 52 0 0.00 ENSG00000265912 0 genome.wustl.edu 37 17 62940075 62940075 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 62940075 62940075 G A SNP ENSG00000265912 ENST00000583416 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-583F2.2 Clone_based_vega_gene ENSG00000265912 33 28 45.90 31 0 0.00 ENSG00000266008 0 genome.wustl.edu 37 19 21880247 21880247 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 21880247 21880247 C G SNP ENSG00000266008 ENST00000579236 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors AC092364.4 Clone_based_ensembl_gene ENSG00000266008 13 4 23.53 9 0 0.00 ENSG00000266021 0 genome.wustl.edu 37 9 68997433 68997433 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 68997433 68997433 C T SNP ENSG00000266021 ENST00000583495 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL353763.2 Clone_based_ensembl_gene ENSG00000266021 14 5 26.32 14 0 0.00 ENSG00000266051 0 genome.wustl.edu 37 17 56533492 56533492 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 56533492 56533492 G A SNP ENSG00000266051 ENST00000581197 human ensembl 70_37 -1 novel rna NULL NULL 0.008 - - - no_errors AC023992.1 Clone_based_ensembl_gene ENSG00000266051 70 8 10.26 39 0 0.00 ENSG00000266135 0 genome.wustl.edu 37 7 72312102 72312102 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 72312102 72312102 G C SNP ENSG00000266135 ENST00000488637 human ensembl 70_37 -1 novel rna NULL NULL 0.015 - - - no_errors Metazoa_SRP RFAM ENSG00000266135 46 21 31.34 24 0 0.00 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 23 3 11.54 14 0 0.00 ENSG00000266290 0 genome.wustl.edu 37 17 56157804 56157804 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 56157804 56157804 A G SNP ENSG00000266290 ENST00000584805 human ensembl 70_37 -1 known rna NULL NULL 0.635 - - - no_errors RP11-159D12.10 Clone_based_vega_gene ENSG00000266290 33 7 17.50 27 0 0.00 ENSG00000266302 0 genome.wustl.edu 37 17 16676931 16676931 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16676931 16676931 G C SNP ENSG00000266302 ENST00000448331 human ensembl 70_37 +1 known missense c.4262 p.R1421T 0.283 NULL pfam_DUF3496 - no_errors CCDC144A Uniprot_genename ENSG00000266302 107 25 18.94 147 0 0.00 ENSG00000266302 0 genome.wustl.edu 37 17 16676937 16676937 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16676937 16676937 A G SNP ENSG00000266302 ENST00000448331 human ensembl 70_37 +1 known missense c.4268 p.Y1423C 0.297 NULL pfam_DUF3496 - no_errors CCDC144A Uniprot_genename ENSG00000266302 62 8 11.43 102 0 0.00 ENSG00000266341 0 genome.wustl.edu 37 17 46137781 46137781 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 46137781 46137781 C T SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000266341 56 7 11.11 59 0 0.00 ENSG00000266341 0 genome.wustl.edu 37 17 46138014 46138014 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46138014 46138014 G A SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000266341 24 13 35.14 23 0 0.00 ENSG00000266341 0 genome.wustl.edu 37 17 46138017 46138017 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 46138017 46138017 G A SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000266341 11 14 56.00 32 0 0.00 ENSG00000266343 0 genome.wustl.edu 37 14 91614551 91614552 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 91614551 91614552 - T INS ENSG00000266343 ENST00000583824 human ensembl 70_37 +1 novel rna NULL NULL 0.726:0.595 - - - no_errors Metazoa_SRP RFAM ENSG00000266343 64 9 12.33 19 0 0.00 ENSG00000266371 0 genome.wustl.edu 37 17 29464558 29464558 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 29464558 29464558 G C SNP ENSG00000266371 ENST00000584382 human ensembl 70_37 +1 known rna NULL NULL 0.238 - - - no_errors RP11-142O6.1 Clone_based_vega_gene ENSG00000266371 38 23 37.10 40 0 0.00 ENSG00000266378 0 genome.wustl.edu 37 17 14232701 14232702 + RNA INS - - G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 14232701 14232702 - G INS ENSG00000266378 ENST00000584683 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-214O1.3 Clone_based_vega_gene ENSG00000266378 12 5 29.41 22 0 0.00 ENSG00000266490 0 genome.wustl.edu 37 17 29119682 29119682 + RNA SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 29119682 29119682 C G SNP ENSG00000266490 ENST00000580085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2349P21.9 Clone_based_vega_gene ENSG00000266490 20 12 37.50 19 0 0.00 ENSG00000266560 0 genome.wustl.edu 37 X 151283808 151283808 + RNA SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 151283808 151283808 A T SNP ENSG00000266560 ENST00000509345 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 75 19 20.00 55 0 0.00 ENSG00000266590 0 genome.wustl.edu 37 11 35882269 35882269 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 35882269 35882269 G C SNP ENSG00000266590 ENST00000580945 human ensembl 70_37 -1 novel rna NULL NULL 0.850 - - - no_errors AC090692.1 Clone_based_ensembl_gene ENSG00000266590 26 9 25.71 26 0 0.00 ENSG00000266596 0 genome.wustl.edu 37 GL000205.1 139086 139086 + RNA SNP C C A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a GL000205.1 139086 139086 C A SNP ENSG00000266596 ENST00000581664 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors AC011841.10 Clone_based_ensembl_gene ENSG00000266596 6 4 40.00 8 0 0.00 ENSG00000266601 0 genome.wustl.edu 37 17 46007130 46007130 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46007130 46007130 G C SNP ENSG00000266601 ENST00000584276 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-6N17.3 Clone_based_vega_gene ENSG00000266601 33 13 28.26 34 0 0.00 ENSG00000266700 0 genome.wustl.edu 37 X 53172259 53172259 + RNA SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 X 53172259 53172259 G A SNP ENSG00000266700 ENST00000578198 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors AL139396.1 Clone_based_ensembl_gene ENSG00000266700 84 25 22.94 150 0 0.00 ENSG00000266708 0 genome.wustl.edu 37 18 8636223 8636223 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 8636223 8636223 G A SNP ENSG00000266708 ENST00000580267 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-661O13.1 Clone_based_vega_gene ENSG00000266708 26 8 23.53 18 0 0.00 ENSG00000266729 0 genome.wustl.edu 37 18 28923597 28923597 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 28923597 28923597 C A SNP ENSG00000266729 ENST00000578119 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-534N16.1 Clone_based_vega_gene ENSG00000266729 22 12 35.29 64 0 0.00 ENSG00000266734 0 genome.wustl.edu 37 8 105447684 105447684 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 105447684 105447684 C G SNP ENSG00000266734 ENST00000579547 human ensembl 70_37 -1 novel rna NULL NULL 0.035 - - - no_errors AP003471.3 Clone_based_ensembl_gene ENSG00000266734 21 14 40.00 26 0 0.00 ENSG00000266775 0 genome.wustl.edu 37 17 28885217 28885217 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885217 28885217 C A SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 37 7 15.91 29 0 0.00 ENSG00000266775 0 genome.wustl.edu 37 17 28885247 28885247 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885247 28885247 C T SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 0.792 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 34 7 17.07 32 0 0.00 ENSG00000266775 0 genome.wustl.edu 37 17 28885255 28885255 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885255 28885255 A G SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 34 8 19.05 30 0 0.00 ENSG00000266830 0 genome.wustl.edu 37 17 26574919 26574919 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 26574919 26574919 G C SNP ENSG00000266830 ENST00000579045 human ensembl 70_37 -1 known rna NULL NULL 0.698 - - - no_errors CTD-2008P7.8 Clone_based_vega_gene ENSG00000266830 13 8 38.10 27 0 0.00 ENSG00000266865 0 genome.wustl.edu 37 17 29349149 29349149 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 29349149 29349149 G A SNP ENSG00000266865 ENST00000579692 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000266865 22 6 21.43 24 0 0.00 ENSG00000266913 0 genome.wustl.edu 37 19 14480915 14480916 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14480915 14480916 - A INS ENSG00000266913 ENST00000588438 human ensembl 70_37 -1 known rna NULL NULL 0.042:0.009 - - - no_errors CTC-548K16.2 Clone_based_vega_gene ENSG00000266913 30 4 11.76 22 0 0.00 ENSG00000266921 0 genome.wustl.edu 37 19 44502013 44502013 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 44502013 44502013 G A SNP ENSG00000266921 ENST00000586860 human ensembl 70_37 -1 known rna NULL NULL 0.750 - - - no_errors RP11-15A1.7 Clone_based_vega_gene ENSG00000266921 75 29 27.88 31 0 0.00 ENSG00000266921 0 genome.wustl.edu 37 19 44503364 44503364 + RNA SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 44503364 44503364 G C SNP ENSG00000266921 ENST00000586860 human ensembl 70_37 -1 known rna NULL NULL 0.346 - - - no_errors RP11-15A1.7 Clone_based_vega_gene ENSG00000266921 39 11 22.00 50 0 0.00 ENSG00000266937 0 genome.wustl.edu 37 16 67904664 67904664 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67904664 67904664 C T SNP ENSG00000266937 ENST00000587481 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.16 Clone_based_vega_gene ENSG00000266937 11 10 47.62 62 0 0.00 ENSG00000266937 0 genome.wustl.edu 37 16 67904825 67904825 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67904825 67904825 C T SNP ENSG00000266937 ENST00000587481 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors CTC-479C5.16 Clone_based_vega_gene ENSG00000266937 20 8 28.57 57 0 0.00 ENSG00000266939 0 genome.wustl.edu 37 19 617134 617134 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 617134 617134 G A SNP ENSG00000266939 ENST00000591847 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC005559.2 Clone_based_vega_gene ENSG00000266939 8 8 50.00 28 0 0.00 ENSG00000266962 0 genome.wustl.edu 37 17 40704901 40704901 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 40704901 40704901 G A SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 42 14 25.00 36 0 0.00 ENSG00000266962 0 genome.wustl.edu 37 17 40704915 40704915 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 40704915 40704915 C G SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 69 48 41.03 58 0 0.00 ENSG00000266962 0 genome.wustl.edu 37 17 40705076 40705076 + RNA SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 40705076 40705076 G A SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.345 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 34 25 42.37 49 0 0.00 ENSG00000266962 0 genome.wustl.edu 37 17 40705355 40705355 + RNA SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 40705355 40705355 C T SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 20 4 16.67 31 0 0.00 ENSG00000266962 0 genome.wustl.edu 37 17 40705912 40705912 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 40705912 40705912 C A SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.500 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 29 16 35.56 75 0 0.00 ENSG00000266974 0 genome.wustl.edu 37 19 36605678 36605678 + RNA SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 36605678 36605678 T C SNP ENSG00000266974 ENST00000592532 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors AD001527.4 Clone_based_vega_gene ENSG00000266974 92 38 29.23 96 0 0.00 ENSG00000266978 0 genome.wustl.edu 37 19 10370889 10370889 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 10370889 10370889 C A SNP ENSG00000266978 ENST00000592893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2369P2.5 Clone_based_vega_gene ENSG00000266978 33 4 10.81 28 0 0.00 ENSG00000266993 0 genome.wustl.edu 37 1 52263779 52263779 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 52263779 52263779 C T SNP ENSG00000266993 ENST00000586761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-657D16.3 Clone_based_vega_gene ENSG00000266993 5 6 54.55 11 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34233433 34233433 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 34233433 34233433 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 21 8 27.59 24 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34233513 34233513 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 34233513 34233513 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 35 23 39.66 52 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34233677 34233677 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 34233677 34233677 C G SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 14 4 22.22 25 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34234194 34234194 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 34234194 34234194 C G SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 11 32 74.42 43 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34236083 34236083 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 34236083 34236083 C T SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 23 6 20.69 19 0 0.00 ENSG00000266999 0 genome.wustl.edu 37 17 34236597 34236597 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 34236597 34236597 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 43 22 33.85 39 0 0.00 ENSG00000267012 0 genome.wustl.edu 37 19 32377616 32377616 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 32377616 32377616 G A SNP ENSG00000267012 ENST00000592270 human ensembl 70_37 -1 known rna NULL NULL 0.036 - - - no_errors CTC-360P9.1 Clone_based_vega_gene ENSG00000267012 35 17 32.69 32 0 0.00 ENSG00000267049 0 genome.wustl.edu 37 19 36261759 36261759 + RNA SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 36261759 36261759 C G SNP ENSG00000267049 ENST00000589397 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AC002398.13 Clone_based_vega_gene ENSG00000267049 60 28 31.11 25 0 0.00 ENSG00000267075 0 genome.wustl.edu 37 17 20450493 20450493 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 20450493 20450493 C T SNP ENSG00000267075 ENST00000591705 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 2 5 71.43 8 0 0.00 ENSG00000267075 0 genome.wustl.edu 37 17 20451439 20451439 + RNA SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 20451439 20451439 G C SNP ENSG00000267075 ENST00000591705 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 21 8 27.59 14 0 0.00 ENSG00000267092 0 genome.wustl.edu 37 19 1508422 1508422 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1508422 1508422 G A SNP ENSG00000267092 ENST00000590252 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTB-25B13.9 Clone_based_vega_gene ENSG00000267092 2 10 83.33 10 0 0.00 ENSG00000267105 0 genome.wustl.edu 37 19 10370507 10370507 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10370507 10370507 G A SNP ENSG00000267105 ENST00000587088 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors CTD-2369P2.4 Clone_based_vega_gene ENSG00000267105 25 23 47.92 49 0 0.00 ENSG00000267122 0 genome.wustl.edu 37 19 2214634 2214634 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 2214634 2214634 C T SNP ENSG00000267122 ENST00000585593 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC004490.1 Clone_based_vega_gene ENSG00000267122 35 8 18.60 46 0 0.00 ENSG00000267124 0 genome.wustl.edu 37 19 306093 306094 + RNA INS - - A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 306093 306094 - A INS ENSG00000267124 ENST00000591533 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.981 - - - no_errors CTD-3113P16.5 Clone_based_vega_gene ENSG00000267124 5 2 28.57 30 0 0.00 ENSG00000267133 0 genome.wustl.edu 37 19 32597418 32597418 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 32597418 32597418 G C SNP ENSG00000267133 ENST00000591232 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC011518.2 Clone_based_vega_gene ENSG00000267133 35 17 32.69 38 0 0.00 ENSG00000267157 0 genome.wustl.edu 37 19 5784377 5784377 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5784377 5784377 G A SNP ENSG00000267157 ENST00000586012 human ensembl 70_37 -1 putative missense c.220 p.P74S 0.003 NULL NULL - no_errors CTB-54O9.9 Clone_based_vega_gene ENSG00000267157 55 28 33.73 107 1 0.93 ENSG00000267161 0 genome.wustl.edu 37 19 1574297 1574298 + RNA INS - - A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 1574297 1574298 - A INS ENSG00000267161 ENST00000588960 human ensembl 70_37 -1 known rna NULL NULL 0.110:0.112 - - - no_errors AC005943.5 Clone_based_vega_gene ENSG00000267161 23 3 11.54 26 0 0.00 ENSG00000267161 0 genome.wustl.edu 37 19 1574848 1574848 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 1574848 1574848 G A SNP ENSG00000267161 ENST00000588960 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AC005943.5 Clone_based_vega_gene ENSG00000267161 40 27 40.30 94 0 0.00 ENSG00000267163 0 genome.wustl.edu 37 19 44603857 44603858 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 44603857 44603858 - A INS ENSG00000267163 ENST00000591772 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors AC084219.3 Clone_based_vega_gene ENSG00000267163 72 25 25.77 32 0 0.00 ENSG00000267198 0 genome.wustl.edu 37 17 43626600 43626600 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43626600 43626600 C G SNP ENSG00000267198 ENST00000590995 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-798G7.6 Clone_based_vega_gene ENSG00000267198 167 76 31.15 166 0 0.00 ENSG00000267222 0 genome.wustl.edu 37 17 40648558 40648559 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 40648558 40648559 - A INS ENSG00000267222 ENST00000591343 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-194N12.2 Clone_based_vega_gene ENSG00000267222 32 5 13.51 44 0 0.00 ENSG00000267239 0 genome.wustl.edu 37 18 13203919 13203919 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 13203919 13203919 C A SNP ENSG00000267239 ENST00000586278 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-794M8.1 Clone_based_vega_gene ENSG00000267239 28 4 12.50 34 0 0.00 ENSG00000267243 0 genome.wustl.edu 37 19 29213613 29213613 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 29213613 29213613 C G SNP ENSG00000267243 ENST00000590072 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267243 12 6 33.33 21 0 0.00 ENSG00000267243 0 genome.wustl.edu 37 19 29213617 29213617 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 29213617 29213617 C G SNP ENSG00000267243 ENST00000590072 human ensembl 70_37 -1 known rna NULL NULL 0.028 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267243 15 10 40.00 26 0 0.00 ENSG00000267270 0 genome.wustl.edu 37 18 77920423 77920423 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77920423 77920423 G T SNP ENSG00000267270 ENST00000586421 human ensembl 70_37 +1 putative missense c.121 p.A41S 0.000 NULL NULL - no_errors AC139100.2 Clone_based_vega_gene ENSG00000267270 16 4 20.00 22 0 0.00 ENSG00000267316 0 genome.wustl.edu 37 18 59238604 59238604 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 59238604 59238604 C T SNP ENSG00000267316 ENST00000585706 human ensembl 70_37 -1 known rna NULL NULL 0.202 - - - no_errors RP11-879F14.3 Clone_based_vega_gene ENSG00000267316 46 6 11.54 33 0 0.00 ENSG00000267328 0 genome.wustl.edu 37 19 36246265 36246265 + RNA SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 36246265 36246265 C G SNP ENSG00000267328 ENST00000587767 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002398.12 Clone_based_vega_gene ENSG00000267328 25 9 26.47 54 0 0.00 ENSG00000267395 0 genome.wustl.edu 37 19 46271268 46271268 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46271268 46271268 G C SNP ENSG00000267395 ENST00000590076 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074212.6 Clone_based_vega_gene ENSG00000267395 9 8 47.06 13 0 0.00 ENSG00000267412 0 genome.wustl.edu 37 19 2611473 2611473 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 2611473 2611473 G T SNP ENSG00000267412 ENST00000590491 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTC-265F19.2 Clone_based_vega_gene ENSG00000267412 30 4 11.76 30 0 0.00 ENSG00000267427 0 genome.wustl.edu 37 19 6211408 6211408 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6211408 6211408 G T SNP ENSG00000267427 ENST00000586154 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTC-503J8.6 Clone_based_vega_gene ENSG00000267427 81 13 13.83 63 0 0.00 ENSG00000267432 0 genome.wustl.edu 37 17 76481128 76481128 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 76481128 76481128 G A SNP ENSG00000267432 ENST00000585969 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-559N14.5 Clone_based_vega_gene ENSG00000267432 6 9 60.00 52 0 0.00 ENSG00000267439 0 genome.wustl.edu 37 19 36243396 36243396 + RNA SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 36243396 36243396 C T SNP ENSG00000267439 ENST00000591091 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.11 Clone_based_vega_gene ENSG00000267439 64 39 37.86 33 0 0.00 ENSG00000267462 0 genome.wustl.edu 37 18 57677665 57677665 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 57677665 57677665 C G SNP ENSG00000267462 ENST00000585691 human ensembl 70_37 +1 known rna NULL NULL 0.761 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 20 4 16.67 22 0 0.00 ENSG00000267462 0 genome.wustl.edu 37 18 57678353 57678353 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 57678353 57678353 C T SNP ENSG00000267462 ENST00000585691 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 21 9 30.00 36 0 0.00 ENSG00000267517 0 genome.wustl.edu 37 19 16176846 16176847 + Splice_Site INS - - GTGT TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 16176846 16176847 - GTGT INS ENSG00000267517 ENST00000585520 human ensembl 70_37 +1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors CTD-2231E14.4 Clone_based_vega_gene ENSG00000267517 40 7 14.89 17 0 0.00 ENSG00000267531 0 genome.wustl.edu 37 19 55856278 55856278 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 55856278 55856278 G A SNP ENSG00000267531 ENST00000539076 human ensembl 70_37 +1 known missense c.184 p.D62N 0.000 NULL NULL - no_errors SUV420H2 Uniprot_genename ENSG00000267531 30 5 14.29 30 0 0.00 ENSG00000267535 0 genome.wustl.edu 37 17 74846569 74846569 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 74846569 74846569 C T SNP ENSG00000267535 ENST00000592919 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-87G24.5 Clone_based_vega_gene ENSG00000267535 48 26 35.14 77 0 0.00 ENSG00000267548 0 genome.wustl.edu 37 17 40127388 40127388 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 40127388 40127388 C T SNP ENSG00000267548 ENST00000590979 human ensembl 70_37 +1 known rna NULL NULL 0.169 - - - no_errors RP11-229E13.2 Clone_based_vega_gene ENSG00000267548 35 5 12.50 45 0 0.00 ENSG00000267548 0 genome.wustl.edu 37 17 40128491 40128491 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40128491 40128491 T C SNP ENSG00000267548 ENST00000590979 human ensembl 70_37 +1 known rna NULL NULL 0.859 - - - no_errors RP11-229E13.2 Clone_based_vega_gene ENSG00000267548 19 5 20.83 33 0 0.00 ENSG00000267566 0 genome.wustl.edu 37 17 34328559 34328559 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 34328559 34328559 G A SNP ENSG00000267566 ENST00000590192 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-104J23.1 Clone_based_vega_gene ENSG00000267566 20 6 23.08 38 0 0.00 ENSG00000267568 0 genome.wustl.edu 37 17 74946467 74946467 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74946467 74946467 G C SNP ENSG00000267568 ENST00000585902 human ensembl 70_37 -1 known rna NULL NULL 0.948 - - - no_errors RP11-87G24.3 Clone_based_vega_gene ENSG00000267568 2 5 71.43 8 0 0.00 ENSG00000267575 0 genome.wustl.edu 37 19 28296624 28296624 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 19 28296624 28296624 G T SNP ENSG00000267575 ENST00000585917 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-459F4.3 Clone_based_vega_gene ENSG00000267575 36 12 25.00 61 0 0.00 ENSG00000267604 0 genome.wustl.edu 37 17 41860184 41860184 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 41860184 41860184 G A SNP ENSG00000267604 ENST00000591540 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors RP5-905N1.2 Clone_based_vega_gene ENSG00000267604 55 38 40.86 30 0 0.00 ENSG00000267660 0 genome.wustl.edu 37 16 67977544 67977544 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67977544 67977544 G C SNP ENSG00000267660 ENST00000590594 human ensembl 70_37 -1 known rna NULL NULL 0.348 - - - no_errors CTC-479C5.17 Clone_based_vega_gene ENSG00000267660 11 4 26.67 10 0 0.00 ENSG00000267669 0 genome.wustl.edu 37 18 57491544 57491544 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 57491544 57491544 G A SNP ENSG00000267669 ENST00000588088 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-824M15.3 Clone_based_vega_gene ENSG00000267669 22 16 42.11 34 0 0.00 ENSG00000267670 0 genome.wustl.edu 37 19 14141855 14141855 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14141855 14141855 C T SNP ENSG00000267670 ENST00000590528 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTB-55O6.4 Clone_based_vega_gene ENSG00000267670 35 13 27.08 34 0 0.00 ENSG00000267698 0 genome.wustl.edu 37 19 36510251 36510251 + RNA SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 36510251 36510251 G C SNP ENSG00000267698 ENST00000586962 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC002116.7 Clone_based_vega_gene ENSG00000267698 11 6 35.29 44 0 0.00 ENSG00000267715 0 genome.wustl.edu 37 19 1485072 1485072 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1485072 1485072 G T SNP ENSG00000267715 ENST00000585643 human ensembl 70_37 +1 known rna NULL NULL 0.139 - - - no_errors CTB-25B13.6 Clone_based_vega_gene ENSG00000267715 36 4 10.00 46 0 0.00 ENSG00000267776 0 genome.wustl.edu 37 19 56888204 56888204 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 56888204 56888204 C A SNP ENSG00000267776 ENST00000591836 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006116.24 Clone_based_vega_gene ENSG00000267776 11 6 35.29 14 0 0.00 ENSG00000267785 0 genome.wustl.edu 37 17 35082469 35082469 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 35082469 35082469 C T SNP ENSG00000267785 ENST00000591939 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3194G12.2 Clone_based_vega_gene ENSG00000267785 35 30 46.15 33 0 0.00 ENSG00000267848 0 genome.wustl.edu 37 20 62585129 62585129 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 20 62585129 62585129 C T SNP ENSG00000267848 ENST00000595604 human ensembl 70_37 +1 known silent c.123 p.C41 0.000 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 43 16 27.12 62 0 0.00 ENSG00000267865 0 genome.wustl.edu 37 19 56220264 56220264 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56220264 56220264 C G SNP ENSG00000267865 ENST00000596293 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 31 35 53.03 45 0 0.00 ENSG00000267882 0 genome.wustl.edu 37 20 45947722 45947722 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 45947722 45947722 G A SNP ENSG00000267882 ENST00000599904 human ensembl 70_37 +1 known missense c.358 p.E120K 0.001 NULL NULL - no_errors AL031666.2 Clone_based_ensembl_gene ENSG00000267882 17 33 66.00 22 0 0.00 ENSG00000267884 0 genome.wustl.edu 37 1 166028138 166028138 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 166028138 166028138 G T SNP ENSG00000267884 ENST00000595430 human ensembl 70_37 -1 known silent c.330 p.L110 0.005 NULL NULL - no_errors AL626787.1 Clone_based_ensembl_gene ENSG00000267884 60 19 24.05 74 0 0.00 ENSG00000267889 0 genome.wustl.edu 37 2 203104351 203104351 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 203104351 203104351 G C SNP ENSG00000267889 ENST00000594829 human ensembl 70_37 +1 known missense c.60 p.Q20H 0.995 NULL NULL - no_errors AC079354.2 Clone_based_ensembl_gene ENSG00000267889 42 15 26.32 54 0 0.00 ENSG00000267892 0 genome.wustl.edu 37 19 39229399 39229399 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 39229399 39229399 G A SNP ENSG00000267892 ENST00000602255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2540F13.2 Clone_based_vega_gene ENSG00000267892 25 6 19.35 21 0 0.00 ENSG00000267892 0 genome.wustl.edu 37 19 39229440 39229440 + RNA SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 39229440 39229440 G C SNP ENSG00000267892 ENST00000602255 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2540F13.2 Clone_based_vega_gene ENSG00000267892 19 10 34.48 25 0 0.00 ENSG00000267943 0 genome.wustl.edu 37 19 53513487 53513487 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53513487 53513487 G C SNP ENSG00000267943 ENST00000596769 human ensembl 70_37 +1 known rna NULL NULL 0.671 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene ENSG00000267943 8 11 57.89 25 0 0.00 ENSG00000267943 0 genome.wustl.edu 37 19 53514118 53514118 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53514118 53514118 C T SNP ENSG00000267943 ENST00000596769 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene ENSG00000267943 8 4 33.33 20 0 0.00 ENSG00000267954 0 genome.wustl.edu 37 22 24125919 24125919 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 24125919 24125919 G T SNP ENSG00000267954 ENST00000598975 human ensembl 70_37 -1 known missense c.227 p.A76E 1.000 NULL NULL - no_errors AP000349.1 Clone_based_ensembl_gene ENSG00000267954 10 4 28.57 14 0 0.00 ENSG00000267970 0 genome.wustl.edu 37 7 48887541 48887541 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48887541 48887541 C G SNP ENSG00000267970 ENST00000596947 human ensembl 70_37 +1 known missense c.41 p.S14W 0.033 NULL NULL - no_errors AC004899.1 Clone_based_ensembl_gene ENSG00000267970 25 20 43.48 67 0 0.00 ENSG00000267980 0 genome.wustl.edu 37 19 4363916 4363916 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 4363916 4363916 G A SNP ENSG00000267980 ENST00000594444 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors AC007292.6 Clone_based_vega_gene ENSG00000267980 32 7 17.95 45 0 0.00 ENSG00000268032 0 genome.wustl.edu 37 19 18141638 18141638 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 18141638 18141638 G A SNP ENSG00000268032 ENST00000594957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 43 34 44.16 88 0 0.00 ENSG00000268069 0 genome.wustl.edu 37 12 48179194 48179194 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 48179194 48179194 G A SNP ENSG00000268069 ENST00000599515 human ensembl 70_37 +1 known missense c.278 p.R93K 0.961 NULL NULL - no_errors AC004466.1 Clone_based_ensembl_gene ENSG00000268069 54 13 19.40 61 0 0.00 ENSG00000268146 0 genome.wustl.edu 37 1 244228156 244228156 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 244228156 244228156 T G SNP ENSG00000268146 ENST00000598000 human ensembl 70_37 +1 known missense c.241 p.Y81D 0.000 NULL NULL - no_errors AL590483.1 Clone_based_ensembl_gene ENSG00000268146 41 32 43.84 49 0 0.00 ENSG00000268149 0 genome.wustl.edu 37 19 7978326 7978326 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7978326 7978326 G A SNP ENSG00000268149 ENST00000595655 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors CTD-3193O13.13 Clone_based_vega_gene ENSG00000268149 23 9 28.12 41 0 0.00 ENSG00000268194 0 genome.wustl.edu 37 2 121223347 121223347 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 121223347 121223347 G T SNP ENSG00000268194 ENST00000593290 human ensembl 70_37 -1 known missense c.340 p.L114M 0.000 NULL NULL - no_errors FLJ14816 Uniprot_genename ENSG00000268194 44 6 12.00 52 0 0.00 ENSG00000268199 0 genome.wustl.edu 37 19 18554204 18554205 + RNA INS - - AC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 18554204 18554205 - AC INS ENSG00000268199 ENST00000594590 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors CTD-3137H5.1 Clone_based_vega_gene ENSG00000268199 30 9 23.08 23 0 0.00 ENSG00000268205 0 genome.wustl.edu 37 19 57818159 57818159 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 57818159 57818159 C G SNP ENSG00000268205 ENST00000593427 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors CTC-444N24.11 Clone_based_vega_gene ENSG00000268205 35 32 47.76 20 0 0.00 ENSG00000268205 0 genome.wustl.edu 37 19 57818699 57818699 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 57818699 57818699 C G SNP ENSG00000268205 ENST00000593427 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-444N24.11 Clone_based_vega_gene ENSG00000268205 40 27 40.30 39 0 0.00 ENSG00000268241 0 genome.wustl.edu 37 2 175201865 175201865 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 175201865 175201865 C T SNP ENSG00000268241 ENST00000595354 human ensembl 70_37 -1 known missense c.287 p.R96H 1.000 NULL NULL - no_errors AC018470.1 Clone_based_ensembl_gene ENSG00000268241 42 6 12.50 64 0 0.00 ENSG00000268301 0 genome.wustl.edu 37 12 11187132 11187133 + In_Frame_Ins INS - - TTG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11187132 11187133 - TTG INS ENSG00000268301 ENST00000601123 human ensembl 70_37 +1 novel in_frame_ins c.46_47 p.S16in_frame_insFA 0.012:0.013 NULL NULL - no_errors AC018630.1 Clone_based_ensembl_gene ENSG00000268301 17 7 29.17 14 0 0.00 ENSG00000268301 0 genome.wustl.edu 37 12 11187133 11187134 + Frame_Shift_Ins INS - - AG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11187133 11187134 - AG INS ENSG00000268301 ENST00000601123 human ensembl 70_37 +1 novel frame_shift_ins c.47_48 p.K17fs 0.013:0.210 NULL NULL - no_errors AC018630.1 Clone_based_ensembl_gene ENSG00000268301 15 7 31.82 14 0 0.00 ENSG00000268310 0 genome.wustl.edu 37 17 76212746 76212746 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 76212746 76212746 G C SNP ENSG00000268310 ENST00000600484 human ensembl 70_37 -1 known missense c.851 p.S284C 0.989 NULL NULL - no_errors AC087645.1 Clone_based_ensembl_gene ENSG00000268310 28 5 15.15 42 0 0.00 ENSG00000268310 0 genome.wustl.edu 37 17 76212853 76212853 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 76212853 76212853 G C SNP ENSG00000268310 ENST00000600484 human ensembl 70_37 -1 known missense c.744 p.F248L 1.000 NULL NULL - no_errors AC087645.1 Clone_based_ensembl_gene ENSG00000268310 20 11 35.48 21 0 0.00 ENSG00000268333 0 genome.wustl.edu 37 20 57411560 57411560 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 57411560 57411560 C G SNP ENSG00000268333 ENST00000601795 human ensembl 70_37 -1 putative rna NULL NULL 0.413 - - - no_errors RP4-806M20.3 Clone_based_vega_gene ENSG00000268333 50 8 13.79 30 0 0.00 ENSG00000268364 0 genome.wustl.edu 37 9 72808941 72808941 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 72808941 72808941 G T SNP ENSG00000268364 ENST00000594708 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-373A9.3 Clone_based_vega_gene ENSG00000268364 23 3 11.54 38 0 0.00 ENSG00000268416 0 genome.wustl.edu 37 19 20933131 20933131 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 20933131 20933131 G A SNP ENSG00000268416 ENST00000593903 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2626G11.2 Clone_based_vega_gene ENSG00000268416 26 9 25.71 16 0 0.00 ENSG00000268467 0 genome.wustl.edu 37 11 107462600 107462600 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 107462600 107462600 G A SNP ENSG00000268467 ENST00000600612 human ensembl 70_37 +1 known silent c.117 p.G39 0.000 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 83 12 12.63 60 0 0.00 ENSG00000268467 0 genome.wustl.edu 37 11 107463118 107463118 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 107463118 107463118 A C SNP ENSG00000268467 ENST00000600612 human ensembl 70_37 +1 known missense c.316 p.N106H 0.006 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 52 27 34.18 96 0 0.00 ENSG00000268516 0 genome.wustl.edu 37 19 58769924 58769924 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 19 58769924 58769924 G C SNP ENSG00000268516 ENST00000597230 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-3138B18.5 Clone_based_vega_gene ENSG00000268516 32 8 20.00 12 0 0.00 ENSG00000268530 0 genome.wustl.edu 37 19 48968981 48968981 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 48968981 48968981 G C SNP ENSG00000268530 ENST00000593476 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-273B12.5 Clone_based_vega_gene ENSG00000268530 82 10 10.87 106 0 0.00 ENSG00000268568 0 genome.wustl.edu 37 19 57184089 57184089 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57184089 57184089 C T SNP ENSG00000268568 ENST00000602145 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors AC007228.9 Clone_based_vega_gene ENSG00000268568 11 11 50.00 31 0 0.00 ENSG00000268573 0 genome.wustl.edu 37 18 32864416 32864416 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 18 32864416 32864416 C T SNP ENSG00000268573 ENST00000586922 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-158H5.7 Clone_based_vega_gene ENSG00000268573 35 4 10.26 57 0 0.00 ENSG00000268613 0 genome.wustl.edu 37 19 53638206 53638206 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 53638206 53638206 G C SNP ENSG00000268613 ENST00000596766 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors CTD-2620I22.7 Clone_based_vega_gene ENSG00000268613 46 16 25.81 39 0 0.00 ENSG00000268621 0 genome.wustl.edu 37 19 46693398 46693398 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 46693398 46693398 G C SNP ENSG00000268621 ENST00000598518 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC006262.5 Clone_based_vega_gene ENSG00000268621 65 19 22.62 45 0 0.00 ENSG00000268657 0 genome.wustl.edu 37 14 92040832 92040832 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 92040832 92040832 C G SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known missense c.125 p.R42P 0.000 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENSG00000268657 46 30 39.47 67 0 0.00 ENSG00000268657 0 genome.wustl.edu 37 14 92040885 92040885 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92040885 92040885 G C SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known silent c.72 p.L24 0.001 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENSG00000268657 35 19 35.19 55 0 0.00 ENSG00000268657 0 genome.wustl.edu 37 14 92040948 92040948 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92040948 92040948 G A SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known silent c.9 p.V3 0.001 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENSG00000268657 32 20 38.46 58 0 0.00 ENSG00000268678 0 genome.wustl.edu 37 19 57862946 57862946 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 57862946 57862946 G A SNP ENSG00000268678 ENST00000597973 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-444N24.13 Clone_based_vega_gene ENSG00000268678 31 5 13.89 42 0 0.00 ENSG00000268713 0 genome.wustl.edu 37 19 57773086 57773086 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 57773086 57773086 G A SNP ENSG00000268713 ENST00000600047 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000268713 23 9 28.12 31 0 0.00 ENSG00000268713 0 genome.wustl.edu 37 19 57774067 57774067 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57774067 57774067 G C SNP ENSG00000268713 ENST00000600047 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000268713 39 13 25.00 44 0 0.00 ENSG00000268734 0 genome.wustl.edu 37 19 55402767 55402768 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 55402767 55402768 - A INS ENSG00000268734 ENST00000594721 human ensembl 70_37 +1 known rna NULL NULL 0.843:0.928 - - - no_errors CTB-61M7.2 Clone_based_vega_gene ENSG00000268734 63 25 28.41 39 0 0.00 ENSG00000268739 0 genome.wustl.edu 37 19 51517985 51517985 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51517985 51517985 A G SNP ENSG00000268739 ENST00000596286 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTC-518B2.12 Clone_based_vega_gene ENSG00000268739 9 12 57.14 29 0 0.00 ENSG00000268802 0 genome.wustl.edu 37 19 54863047 54863047 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 54863047 54863047 C A SNP ENSG00000268802 ENST00000596234 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene ENSG00000268802 85 12 12.37 31 0 0.00 ENSG00000268802 0 genome.wustl.edu 37 19 54863963 54863963 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 54863963 54863963 G T SNP ENSG00000268802 ENST00000596234 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene ENSG00000268802 32 4 11.11 29 0 0.00 ENSG00000268802 0 genome.wustl.edu 37 19 54864241 54864241 + RNA SNP T T A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 54864241 54864241 T A SNP ENSG00000268802 ENST00000596234 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene ENSG00000268802 14 7 33.33 30 0 0.00 ENSG00000268864 0 genome.wustl.edu 37 19 54104546 54104546 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 54104546 54104546 C T SNP ENSG00000268864 ENST00000600193 human ensembl 70_37 -1 putative missense c.286 p.A96T 0.118 NULL NULL - no_errors CTB-167G5.5 Clone_based_vega_gene ENSG00000268864 49 16 24.24 35 0 0.00 ENSG00000268906 0 genome.wustl.edu 37 19 51537229 51537229 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51537229 51537229 G C SNP ENSG00000268906 ENST00000594910 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-518B2.9 Clone_based_vega_gene ENSG00000268906 58 22 27.50 70 0 0.00 ENSG00000269089 0 genome.wustl.edu 37 11 61735921 61735921 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 61735921 61735921 G A SNP ENSG00000269089 ENST00000601917 human ensembl 70_37 +1 known missense c.346 p.D116N 0.000 NULL NULL - no_errors AP003733.1 Clone_based_ensembl_gene ENSG00000269089 27 6 18.18 39 0 0.00 ENSG00000269110 0 genome.wustl.edu 37 19 20844376 20844376 + RNA DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 20844376 20844376 A - DEL ENSG00000269110 ENST00000595094 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors CTC-513N18.7 Clone_based_vega_gene ENSG00000269110 22 9 29.03 30 0 0.00 ENSG00000269148 0 genome.wustl.edu 37 19 46333530 46333530 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46333530 46333530 C G SNP ENSG00000269148 ENST00000601618 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC092301.3 Clone_based_vega_gene ENSG00000269148 25 20 44.44 44 0 0.00 ENSG00000269175 0 genome.wustl.edu 37 1 101456269 101456269 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 101456269 101456269 G T SNP ENSG00000269175 ENST00000593496 human ensembl 70_37 +1 known missense c.263 p.S88I 0.004 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 21 4 16.00 44 0 0.00 ENSG00000269176 0 genome.wustl.edu 37 11 62553637 62553637 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62553637 62553637 G A SNP ENSG00000269176 ENST00000601484 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.12 Clone_based_vega_gene ENSG00000269176 132 34 20.48 175 0 0.00 ENSG00000269208 0 genome.wustl.edu 37 5 68930125 68930125 + Missense_Mutation SNP T T A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 68930125 68930125 T A SNP ENSG00000269208 ENST00000596065 human ensembl 70_37 -1 novel missense c.490 p.M164L 0.038 NULL NULL - no_errors AC139495.1 Clone_based_ensembl_gene ENSG00000269208 48 31 39.24 89 0 0.00 ENSG00000269208 0 genome.wustl.edu 37 5 68931254 68931254 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68931254 68931254 C T SNP ENSG00000269208 ENST00000596065 human ensembl 70_37 -1 novel silent c.51 p.V17 0.000 NULL NULL - no_errors AC139495.1 Clone_based_ensembl_gene ENSG00000269208 67 53 44.17 85 0 0.00 ENSG00000269243 0 genome.wustl.edu 37 19 16243708 16243708 + RNA SNP A A T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 16243708 16243708 A T SNP ENSG00000269243 ENST00000599676 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ENSG00000269243 81 11 11.96 78 0 0.00 ENSG00000269243 0 genome.wustl.edu 37 19 16250675 16250675 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 16250675 16250675 C T SNP ENSG00000269243 ENST00000597983 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ENSG00000269243 34 13 27.66 30 0 0.00 ENSG00000269293 0 genome.wustl.edu 37 6 28104731 28104731 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 28104731 28104731 G C SNP ENSG00000269293 ENST00000600652 human ensembl 70_37 -1 known missense c.136 p.L46V 0.004 NULL NULL - no_errors AL358933.1 Clone_based_ensembl_gene ENSG00000269293 45 11 19.64 117 0 0.00 ENSG00000269369 0 genome.wustl.edu 37 9 136567998 136567998 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 9 136567998 136567998 G A SNP ENSG00000269369 ENST00000601113 human ensembl 70_37 +1 known missense c.394 p.A132T 0.016 NULL NULL - no_errors AL590710.2 Clone_based_ensembl_gene ENSG00000269369 23 33 58.93 73 0 0.00 ENSG00000269369 0 genome.wustl.edu 37 9 136568062 136568062 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 136568062 136568062 G A SNP ENSG00000269369 ENST00000601113 human ensembl 70_37 +1 known missense c.458 p.R153Q 0.998 NULL NULL - no_errors AL590710.2 Clone_based_ensembl_gene ENSG00000269369 80 52 39.39 157 0 0.00 ENSG00000269416 0 genome.wustl.edu 37 19 23588839 23588839 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 23588839 23588839 G A SNP ENSG00000269416 ENST00000596283 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors CTB-175P5.4 Clone_based_vega_gene ENSG00000269416 24 17 41.46 29 0 0.00 ENSG00000269445 0 genome.wustl.edu 37 19 39017603 39017603 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39017603 39017603 G C SNP ENSG00000269445 ENST00000597015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC067969.1 Clone_based_vega_gene ENSG00000269445 21 17 44.74 25 0 0.00 ENSG00000269463 0 genome.wustl.edu 37 11 62575156 62575156 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 62575156 62575156 C T SNP ENSG00000269463 ENST00000596971 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.13 Clone_based_vega_gene ENSG00000269463 32 4 11.11 41 0 0.00 ENSG00000269490 0 genome.wustl.edu 37 6 33663377 33663377 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33663377 33663377 G A SNP ENSG00000269490 ENST00000594414 human ensembl 70_37 -1 known missense c.98 p.S33L 0.000 NULL NULL - no_errors SBP1 Uniprot_genename ENSG00000269490 46 22 32.35 88 0 0.00 ENSG00000269553 0 genome.wustl.edu 37 19 35822749 35822750 + RNA INS - - A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 19 35822749 35822750 - A INS ENSG00000269553 ENST00000597110 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors U62631.5 Clone_based_vega_gene ENSG00000269553 5 5 50.00 9 0 0.00 ENSG00000269564 0 genome.wustl.edu 37 19 54292152 54292152 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 54292152 54292152 G A SNP ENSG00000269564 ENST00000597420 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors AC008753.4 Clone_based_vega_gene ENSG00000269564 23 15 39.47 14 0 0.00 ENSG00000269583 0 genome.wustl.edu 37 19 44079628 44079628 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 44079628 44079628 C T SNP ENSG00000269583 ENST00000600242 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors L34079.4 Clone_based_vega_gene ENSG00000269583 97 30 23.62 67 0 0.00 ENSG00000269583 0 genome.wustl.edu 37 19 44079728 44079728 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 44079728 44079728 G A SNP ENSG00000269583 ENST00000600242 human ensembl 70_37 +1 known rna NULL NULL 0.403 - - - no_errors L34079.4 Clone_based_vega_gene ENSG00000269583 21 6 22.22 28 0 0.00 ENSG00000269636 0 genome.wustl.edu 37 5 150158371 150158371 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 150158371 150158371 C A SNP ENSG00000269636 ENST00000600109 human ensembl 70_37 +1 known silent c.240 p.P80 0.009 NULL NULL - no_errors AC010441.1 Clone_based_ensembl_gene ENSG00000269636 11 7 38.89 26 0 0.00 ENSG00000269737 0 genome.wustl.edu 37 1 1604282 1604282 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 1604282 1604282 C T SNP ENSG00000269737 ENST00000596308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-345P4.7 Clone_based_vega_gene ENSG00000269737 84 49 36.84 37 0 0.00 ENTHD1 150350 genome.wustl.edu 37 22 40161572 40161572 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 40161572 40161572 C T SNP ENTHD1 ENST00000325157 human ensembl 70_37 -1 known missense c.875 p.R292K 0.003 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 54 8 12.90 42 0 0.00 ENTHD2 146705 genome.wustl.edu 37 17 79202813 79202813 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79202813 79202813 C T SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.1493 p.R498H 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 17 3 15.00 9 0 0.00 ENTHD2 146705 genome.wustl.edu 37 17 79202880 79202880 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 79202880 79202880 G A SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known silent c.1426 p.L476 1.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 19 5 20.83 28 0 0.00 ENTHD2 146705 genome.wustl.edu 37 17 79205719 79205719 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 79205719 79205719 G A SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.629 p.S210L 0.992 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 45 71 61.21 81 0 0.00 ENTHD2 146705 genome.wustl.edu 37 17 79211199 79211199 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 79211199 79211199 C T SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pfam_Epsin_dom_N,superfamily_ENTH_VHS pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 9 10 52.63 48 0 0.00 ENTPD2 954 genome.wustl.edu 37 9 139942726 139942726 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 139942726 139942726 G T SNP ENTPD2 ENST00000460614 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD2 HGNC ENSG00000054179 23 3 11.54 30 0 0.00 ENTPD2 954 genome.wustl.edu 37 9 139946066 139946066 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 139946066 139946066 C T SNP ENTPD2 ENST00000355097 human ensembl 70_37 -1 known silent c.282 p.Q94 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 23 10 30.30 36 0 0.00 ENTPD3 956 genome.wustl.edu 37 3 40456324 40456324 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 40456324 40456324 T G SNP ENTPD3 ENST00000301825 human ensembl 70_37 +1 known missense c.590 p.F197C 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 38 16 29.63 96 0 0.00 ENTPD3 956 genome.wustl.edu 37 3 40457472 40457472 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 40457472 40457472 C A SNP ENTPD3 ENST00000301825 human ensembl 70_37 +1 known missense c.739 p.L247M 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 21 4 16.00 23 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23243543 23243543 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 23243543 23243543 C T SNP ENTPD4 ENST00000356206 human ensembl 70_37 -1 putative silent c.1614 p.L538 0.001 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 12 31 72.09 39 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 15 4 21.05 13 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 9 4 30.77 14 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 36 4 10.00 30 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 12 3 20.00 31 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 21 4 16.00 16 0 0.00 ENTPD4 9583 genome.wustl.edu 37 8 23294733 23294733 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 23294733 23294733 G A SNP ENTPD4 ENST00000358689 human ensembl 70_37 -1 known missense c.1088 p.P363L 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 70 32 31.37 51 0 0.00 ENTPD7 57089 genome.wustl.edu 37 10 101464287 101464287 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101464287 101464287 C G SNP ENTPD7 ENST00000370489 human ensembl 70_37 +1 known missense c.1662 p.F554L 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 114 42 26.92 150 0 0.00 ENTPD8 377841 genome.wustl.edu 37 9 140330468 140330468 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 140330468 140330468 G A SNP ENTPD8 ENST00000371506 human ensembl 70_37 -1 known silent c.1047 p.F349 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 16 16 50.00 44 0 0.00 ENTPD8 377841 genome.wustl.edu 37 9 140330988 140330988 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 140330988 140330988 G A SNP ENTPD8 ENST00000371506 human ensembl 70_37 -1 known silent c.771 p.L257 0.475 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 3 6 66.67 8 0 0.00 ENY2 56943 genome.wustl.edu 37 8 110346687 110346687 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 110346687 110346687 C G SNP ENY2 ENST00000517756 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ENY2 HGNC ENSG00000120533 75 16 17.58 91 0 0.00 EOGT 285203 genome.wustl.edu 37 3 69054329 69054329 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 69054329 69054329 G A SNP EOGT ENST00000383701 human ensembl 70_37 -1 known silent c.477 p.L159 0.996 pfam_Glycosyltransferase_AER61 pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 37 13 26.00 75 0 0.00 EOGT 285203 genome.wustl.edu 37 3 69054378 69054378 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 69054378 69054378 G A SNP EOGT ENST00000383701 human ensembl 70_37 -1 known missense c.428 p.S143L 0.997 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 42 6 12.50 60 0 0.00 EOGT 285203 genome.wustl.edu 37 3 69057628 69057628 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 69057628 69057628 G T SNP EOGT ENST00000383701 human ensembl 70_37 -1 known missense c.262 p.P88T 0.720 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 31 4 11.43 36 0 0.00 EOMES 8320 genome.wustl.edu 37 3 27758889 27758889 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27758889 27758889 C T SNP EOMES ENST00000449599 human ensembl 70_37 -1 known missense c.1790 p.R597Q 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 28 25 47.17 31 0 0.00 EP300 2033 genome.wustl.edu 37 22 41489064 41489064 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41489064 41489064 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.56 p.S19* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 35 21 37.50 85 0 0.00 EP300 2033 genome.wustl.edu 37 22 41521980 41521980 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41521980 41521980 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.842 p.S281* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 16 13 44.83 34 0 0.00 EP300 2033 genome.wustl.edu 37 22 41523536 41523536 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41523536 41523536 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.952 p.P318A 0.979 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 27 9 24.32 51 0 0.00 EP300 2033 genome.wustl.edu 37 22 41525927 41525927 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 41525927 41525927 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1202 p.S401* 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 65 10 13.33 108 0 0.00 EP300 2033 genome.wustl.edu 37 22 41527552 41527552 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 41527552 41527552 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known silent c.1443 p.P481 0.124 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 10 6 37.50 32 0 0.00 EP300 2033 genome.wustl.edu 37 22 41533715 41533715 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 41533715 41533715 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1681 p.Q561* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 42 19 31.15 58 0 0.00 EP300 2033 genome.wustl.edu 37 22 41537053 41537053 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 41537053 41537053 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.1880 p.A627V 1.000 pfam_KIX,superfamily_KIX,pfscan_KIX pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 34 6 15.00 63 0 0.00 EP300 2033 genome.wustl.edu 37 22 41537115 41537115 + Nonsense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 22 41537115 41537115 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1942 p.R648* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 13 40 75.47 39 0 0.00 EP300 2033 genome.wustl.edu 37 22 41543930 41543930 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41543930 41543930 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.2221 p.Q741* 0.990 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 38 12 24.00 55 0 0.00 EP300 2033 genome.wustl.edu 37 22 41545129 41545129 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 41545129 41545129 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.2329 p.V777I 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 19 15 44.12 25 0 0.00 EP300 2033 genome.wustl.edu 37 22 41545822 41545822 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 41545822 41545822 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.2437 p.Q813* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 27 23 46.00 47 0 0.00 EP300 2033 genome.wustl.edu 37 22 41547874 41547874 + Nonsense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 41547874 41547874 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.2855 p.S952* 0.981 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 43 15 25.86 36 0 0.00 EP300 2033 genome.wustl.edu 37 22 41556727 41556727 + Splice_Site SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 41556727 41556727 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known splice_site c.3671+1 e20+1 1.000 - - - no_errors EP300 HGNC ENSG00000100393 43 21 32.81 56 0 0.00 EP300 2033 genome.wustl.edu 37 22 41558764 41558764 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 41558764 41558764 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3709 p.D1237Y 1.000 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 27 26 48.15 60 0 0.00 EP300 2033 genome.wustl.edu 37 22 41562602 41562602 + Splice_Site SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 41562602 41562602 G C SNP EP300 ENST00000263253 human ensembl 70_37 +1 known splice_site c.3807-1 e23-1 1.000 - - - no_errors EP300 HGNC ENSG00000100393 17 28 62.22 28 0 0.00 EP300 2033 genome.wustl.edu 37 22 41562645 41562645 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 41562645 41562645 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3849 p.R1283S 0.993 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 15 16 51.61 30 0 0.00 EP300 2033 genome.wustl.edu 37 22 41564513 41564513 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 41564513 41564513 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3935 p.R1312Q 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 47 20 29.85 67 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 16 27 62.79 34 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 4 18 81.82 33 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 17 56 76.71 46 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 45 194 81.17 237 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 16 23 58.97 40 0 0.00 EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 19 8 29.63 34 0 0.00 EP300 2033 genome.wustl.edu 37 22 41569751 41569751 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 41569751 41569751 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4742 p.S1581L 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 31 6 16.22 22 0 0.00 EP300 2033 genome.wustl.edu 37 22 41572405 41572405 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 41572405 41572405 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4934 p.R1645Q 0.998 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 45 15 25.00 46 0 0.00 EP300 2033 genome.wustl.edu 37 22 41572870 41572870 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 41572870 41572870 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.5155 p.Q1719* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 16 19 54.29 32 0 0.00 EP300 2033 genome.wustl.edu 37 22 41574358 41574358 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41574358 41574358 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.6643 p.Q2215* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 15 5 25.00 34 0 0.00 EP300 2033 genome.wustl.edu 37 22 41574469 41574469 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41574469 41574469 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.6754 p.E2252* 0.834 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 8 7 46.67 14 0 0.00 EP400 57634 genome.wustl.edu 37 12 132445333 132445333 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 132445333 132445333 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known nonsense c.169 p.Q57* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 67 23 25.56 78 0 0.00 EP400 57634 genome.wustl.edu 37 12 132445647 132445647 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 132445647 132445647 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.483 p.L161 0.223 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 17 9 34.62 28 0 0.00 EP400 57634 genome.wustl.edu 37 12 132446159 132446159 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 132446159 132446159 C G SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.995 p.S332C 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 24 5 17.24 31 0 0.00 EP400 57634 genome.wustl.edu 37 12 132448185 132448185 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 132448185 132448185 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known nonsense c.1444 p.Q482* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 42 6 12.50 41 0 0.00 EP400 57634 genome.wustl.edu 37 12 132466052 132466052 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 132466052 132466052 G C SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.1562 p.R521P 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 33 10 23.26 41 0 0.00 EP400 57634 genome.wustl.edu 37 12 132466942 132466942 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 132466942 132466942 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.1956 p.S652 0.003 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 13 5 27.78 26 0 0.00 EP400 57634 genome.wustl.edu 37 12 132472277 132472277 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 132472277 132472277 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.2359 p.E787K 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 16 41 71.93 73 0 0.00 EP400 57634 genome.wustl.edu 37 12 132498441 132498441 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 132498441 132498441 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.4014 p.D1338 0.925 pfam_SNF2_N pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 22 14 38.89 31 0 0.00 EP400 57634 genome.wustl.edu 37 12 132504700 132504700 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132504700 132504700 C G SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.4492 p.P1498A 0.156 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 27 27 50.00 28 0 0.00 EP400 57634 genome.wustl.edu 37 12 132514585 132514585 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 132514585 132514585 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.5744 p.R1915H 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 48 15 23.81 46 0 0.00 EP400 57634 genome.wustl.edu 37 12 132529427 132529427 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 132529427 132529427 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.6821 p.P2274L 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 122 46 27.38 161 0 0.00 EP400 57634 genome.wustl.edu 37 12 132530070 132530070 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 132530070 132530070 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.7099 p.E2367K 1.000 superfamily_Homeodomain-like,pfscan_Myb-like_dom pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 25 10 28.57 30 0 0.00 EP400 57634 genome.wustl.edu 37 12 132547138 132547138 + Silent SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 132547138 132547138 A G SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.8334 p.Q2778 0.021 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 34 5 12.82 25 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132589042 132589042 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 132589042 132589042 C T SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known silent c.477 p.F159 0.999 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 12 20 62.50 27 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132589423 132589423 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 132589423 132589423 G A SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known silent c.858 p.T286 0.189 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 9 3 25.00 11 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132589811 132589811 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 132589811 132589811 G A SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known missense c.1246 p.E416K 1.000 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 28 8 22.22 34 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132589847 132589847 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 132589847 132589847 G A SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known missense c.1282 p.E428K 1.000 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 22 5 18.52 23 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132610547 132610547 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 132610547 132610547 C T SNP EP400NL ENST00000475841 human ensembl 70_37 +1 known rna NULL NULL 0.176 - - - no_errors EP400NL HGNC ENSG00000185684 33 33 50.00 50 0 0.00 EP400NL 347918 genome.wustl.edu 37 12 132611225 132611225 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 132611225 132611225 G T SNP EP400NL ENST00000475841 human ensembl 70_37 +1 known rna NULL NULL 0.221 - - - no_errors EP400NL HGNC ENSG00000185684 46 19 29.23 33 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46524939 46524939 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 46524939 46524939 C G SNP EPAS1 ENST00000467888 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors EPAS1 HGNC ENSG00000116016 35 11 23.91 21 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46525033 46525033 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 46525033 46525033 C G SNP EPAS1 ENST00000467888 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors EPAS1 HGNC ENSG00000116016 18 5 21.74 24 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46574022 46574022 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 46574022 46574022 G C SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.37 p.E13Q 1.000 superfamily_HLH_dom,pfscan_HLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 13 15 53.57 28 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46574200 46574200 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 46574200 46574200 C T SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.215 p.S72L 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 18 15 45.45 29 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46583934 46583934 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 46583934 46583934 G C SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known silent c.441 p.L147 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 12 13 52.00 51 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46597010 46597010 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 46597010 46597010 G A SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.824 p.R275H 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 80 13 13.98 68 0 0.00 EPAS1 2034 genome.wustl.edu 37 2 46602874 46602874 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 46602874 46602874 C A SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.932 p.A311E 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAC,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 23 24 51.06 59 0 0.00 EPB41 2035 genome.wustl.edu 37 1 29314294 29314294 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 29314294 29314294 G A SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known silent c.345 p.E115 0.082 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 183 96 34.29 242 1 0.41 EPB41 2035 genome.wustl.edu 37 1 29314294 29314294 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 29314294 29314294 G A SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known silent c.345 p.E115 0.082 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 22 15 40.54 27 0 0.00 EPB41 2035 genome.wustl.edu 37 1 29342242 29342242 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 29342242 29342242 C G SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known missense c.868 p.P290A 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 93 16 14.68 111 0 0.00 EPB41 2035 genome.wustl.edu 37 1 29362374 29362374 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 29362374 29362374 C G SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known missense c.1402 p.P468A 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 23 13 36.11 40 0 0.00 EPB41 2035 genome.wustl.edu 37 1 29379717 29379717 + Nonsense_Mutation SNP A A T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 29379717 29379717 A T SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known nonsense c.1738 p.K580* 0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 17 9 34.62 20 0 0.00 EPB41 2035 genome.wustl.edu 37 1 29386958 29386958 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 29386958 29386958 G A SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known missense c.1969 p.E657K 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 84 11 11.58 44 0 0.00 EPB41L1 2036 genome.wustl.edu 37 20 34763472 34763472 + Splice_Site SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 34763472 34763472 G C SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known splice_site c.178-1 e2-1 1.000 - - - no_errors EPB41L1 HGNC ENSG00000088367 34 53 60.92 48 0 0.00 EPB41L1 2036 genome.wustl.edu 37 20 34778276 34778276 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 34778276 34778276 C T SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known silent c.1104 p.I368 0.133 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 76 11 12.64 43 0 0.00 EPB41L1 2036 genome.wustl.edu 37 20 34797677 34797677 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 34797677 34797677 G A SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known missense c.1936 p.D646N 1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 37 15 28.85 61 0 0.00 EPB41L1 2036 genome.wustl.edu 37 20 34810275 34810275 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 34810275 34810275 G T SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known nonsense c.2596 p.E866* 1.000 pfam_Band_4.1_C,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 19 24 55.81 43 0 0.00 EPB41L2 2037 genome.wustl.edu 37 6 131179308 131179308 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 131179308 131179308 C G SNP EPB41L2 ENST00000337057 human ensembl 70_37 -1 known missense c.2986 p.E996Q 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 111 35 23.97 189 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5394771 5394771 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 5394771 5394771 C G SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.3175 p.E1059Q 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 51 9 15.00 58 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5397314 5397314 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 5397314 5397314 G A SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.2584 p.R862C 0.947 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 16 5 23.81 29 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5415862 5415862 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 5415862 5415862 C G SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.2022 p.L674F 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 10 12 54.55 19 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5416294 5416294 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 5416294 5416294 C T SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known silent c.1590 p.R530 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 31 13 29.55 46 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5445243 5445243 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 5445243 5445243 T G SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known missense c.382 p.K128Q 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 37 13 26.00 52 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5630528 5630528 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 5630528 5630528 C T SNP EPB41L3 ENST00000578431 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors EPB41L3 HGNC ENSG00000082397 50 18 26.47 82 0 0.00 EPB41L3 23136 genome.wustl.edu 37 18 5630551 5630551 + RNA SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 18 5630551 5630551 C T SNP EPB41L3 ENST00000578431 human ensembl 70_37 -1 known rna NULL NULL 0.904 - - - no_errors EPB41L3 HGNC ENSG00000082397 6 9 60.00 30 0 0.00 EPB41L4A 64097 genome.wustl.edu 37 5 111576451 111576451 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 111576451 111576451 G A SNP EPB41L4A ENST00000261486 human ensembl 70_37 -1 known silent c.852 p.L284 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4A HGNC ENSG00000129595 14 9 39.13 25 0 0.00 EPB41L4B 54566 genome.wustl.edu 37 9 112003954 112003954 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 112003954 112003954 C T SNP EPB41L4B ENST00000374557 human ensembl 70_37 -1 known missense c.1545 p.M515I 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ENSG00000095203 33 16 32.65 47 0 0.00 EPB41L4B 54566 genome.wustl.edu 37 9 112018705 112018705 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 112018705 112018705 C G SNP EPB41L4B ENST00000374566 human ensembl 70_37 -1 known missense c.808 p.E270Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ENSG00000095203 25 19 43.18 26 0 0.00 EPB41L4B 54566 genome.wustl.edu 37 9 112020511 112020511 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 9 112020511 112020511 G T SNP EPB41L4B ENST00000374566 human ensembl 70_37 -1 known missense c.698 p.P233Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ENSG00000095203 41 17 29.31 39 0 0.00 EPB42 2038 genome.wustl.edu 37 15 43498771 43498771 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 43498771 43498771 C T SNP EPB42 ENST00000300215 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 189 24 11.27 121 0 0.00 DMTN 2039 genome.wustl.edu 37 8 21927809 21927809 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 21927809 21927809 G A SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known missense c.568 p.D190N 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC ENSG00000158856 37 11 22.92 44 0 0.00 DMTN 2039 genome.wustl.edu 37 8 21929890 21929890 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 21929890 21929890 G T SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known nonsense c.658 p.E220* 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC ENSG00000158856 27 12 30.77 47 0 0.00 DMTN 2039 genome.wustl.edu 37 8 21929950 21929950 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 21929950 21929950 G C SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known missense c.718 p.E240Q 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC ENSG00000158856 20 8 28.57 38 0 0.00 EPC1 80314 genome.wustl.edu 37 10 32561043 32561043 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 10 32561043 32561043 G A SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.1985 p.A662V 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 7 10 58.82 19 0 0.00 EPC1 80314 genome.wustl.edu 37 10 32561068 32561068 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 32561068 32561068 C T SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.1960 p.A654T 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 0 8 100.00 10 0 0.00 EPC1 80314 genome.wustl.edu 37 10 32581511 32581511 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 32581511 32581511 C T SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.728 p.R243Q 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 52 40 43.48 64 0 0.00 EPC1 80314 genome.wustl.edu 37 10 32667508 32667508 + RNA SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 32667508 32667508 C A SNP EPC1 ENST00000462470 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EPC1 HGNC ENSG00000120616 15 3 16.67 28 0 0.00 EPC2 26122 genome.wustl.edu 37 2 149447933 149447933 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 149447933 149447933 C G SNP EPC2 ENST00000258484 human ensembl 70_37 +1 known missense c.304 p.H102D 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 41 17 29.31 50 0 0.00 EPCAM 4072 genome.wustl.edu 37 2 47596298 47596298 + Silent SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 47596298 47596298 C G SNP EPCAM ENST00000456133 human ensembl 70_37 +1 known silent c.84 p.A28 0.000 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors EPCAM HGNC ENSG00000119888 5 6 54.55 15 0 0.00 EPDR1 54749 genome.wustl.edu 37 7 37960261 37960261 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 37960261 37960261 G C SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known missense c.80 p.R27T 0.205 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 53 23 29.87 73 0 0.00 EPDR1 54749 genome.wustl.edu 37 7 37960781 37960781 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 37960781 37960781 C T SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known silent c.600 p.D200 1.000 smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 15 15 50.00 25 0 0.00 EPDR1 54749 genome.wustl.edu 37 7 37989929 37989929 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 37989929 37989929 G A SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known silent c.966 p.S322 0.002 pfam_Ependymin,smart_Ependymin,prints_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 70 20 22.22 69 0 0.00 EPG5 57724 genome.wustl.edu 37 18 43447670 43447670 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43447670 43447670 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.6269 p.S2090F 0.842 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 111 27 19.42 163 0 0.00 EPG5 57724 genome.wustl.edu 37 18 43450595 43450595 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43450595 43450595 C T SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known silent c.6162 p.T2054 0.008 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 62 19 23.46 80 0 0.00 EPG5 57724 genome.wustl.edu 37 18 43467829 43467829 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43467829 43467829 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known nonsense c.4996 p.Q1666* 0.999 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 147 37 20.11 161 0 0.00 EPG5 57724 genome.wustl.edu 37 18 43532369 43532369 + Nonsense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 18 43532369 43532369 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known nonsense c.1249 p.R417* 0.293 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 46 8 14.81 117 0 0.00 EPG5 57724 genome.wustl.edu 37 18 43532381 43532381 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 18 43532381 43532381 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.1237 p.H413Y 0.967 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 72 42 36.84 113 1 0.88 EPG5 57724 genome.wustl.edu 37 18 43535289 43535289 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 43535289 43535289 C T SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.79 p.E27K 0.977 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 28 11 28.21 27 0 0.00 EPHA1 2041 genome.wustl.edu 37 7 143087514 143087514 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 143087514 143087514 G T SNP EPHA1 ENST00000458129 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors EPHA1 HGNC ENSG00000146904 21 4 16.00 26 0 0.00 EPHA1 2041 genome.wustl.edu 37 7 143090861 143090861 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 143090861 143090861 G C SNP EPHA1 ENST00000275815 human ensembl 70_37 -1 known missense c.2599 p.R867G 0.812 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC ENSG00000146904 31 30 49.18 63 0 0.00 EPHA1-AS1 285965 genome.wustl.edu 37 7 143219873 143219873 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 143219873 143219873 T G SNP EPHA1-AS1 ENST00000429289 human ensembl 70_37 +1 known rna NULL NULL 0.168 - - - no_errors EPHA1-AS1 HGNC ENSG00000229153 46 7 13.21 46 0 0.00 EPHA10 284656 genome.wustl.edu 37 1 38227478 38227478 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 38227478 38227478 C T SNP EPHA10 ENST00000427468 human ensembl 70_37 -1 known missense c.449 p.R150H 0.952 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA10 HGNC ENSG00000183317 121 46 27.54 112 0 0.00 EPHA10 284656 genome.wustl.edu 37 1 38227721 38227721 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 38227721 38227721 C T SNP EPHA10 ENST00000427468 human ensembl 70_37 -1 known missense c.206 p.R69H 0.984 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA10 HGNC ENSG00000183317 27 13 32.50 36 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16455987 16455987 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16455987 16455987 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.2767 p.E923K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 42 20 32.26 42 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16458615 16458615 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16458615 16458615 C G SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.2269 p.D757H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 24 88 78.57 81 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16459997 16459997 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 16459997 16459997 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1843 p.R615G 0.926 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 46 8 14.81 40 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16460102 16460102 + Splice_Site SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16460102 16460102 C A SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known splice_site c.1739-1 e10-1 1.000 - - - no_errors EPHA2 HGNC ENSG00000142627 17 8 32.00 26 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16464585 16464585 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16464585 16464585 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1075 p.D359N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 29 27 47.37 24 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16464648 16464648 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 16464648 16464648 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1012 p.V338M 0.166 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 73 32 30.48 45 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16474972 16474972 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 16474972 16474972 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.724 p.E242K 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 154 55 26.32 161 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16475043 16475043 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16475043 16475043 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.653 p.S218C 0.937 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 112 23 17.04 129 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16475146 16475146 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16475146 16475146 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.550 p.D184N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 21 18 46.15 36 0 0.00 EPHA2 1969 genome.wustl.edu 37 1 16475389 16475389 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16475389 16475389 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.307 p.R103G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 31 16 34.04 37 0 0.00 EPHA3 2042 genome.wustl.edu 37 3 89259301 89259301 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 89259301 89259301 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.445 p.D149N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 65 10 13.33 47 0 0.00 EPHA3 2042 genome.wustl.edu 37 3 89391038 89391038 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 89391038 89391038 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known nonsense c.1104 p.W368* 0.978 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 17 8 32.00 24 0 0.00 EPHA3 2042 genome.wustl.edu 37 3 89391151 89391151 + Missense_Mutation SNP C C G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 3 89391151 89391151 C G SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.1217 p.T406S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 52 12 18.75 50 0 0.00 EPHA3 2042 genome.wustl.edu 37 3 89468357 89468357 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 89468357 89468357 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.1891 p.E631K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 13 3 18.75 16 0 0.00 EPHA3 2042 genome.wustl.edu 37 3 89468499 89468499 + Missense_Mutation SNP A A C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 89468499 89468499 A C SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known missense c.2033 p.D678A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 4 8 66.67 24 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222283737 222283737 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 222283737 222283737 C G SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors EPHA4 HGNC ENSG00000116106 33 12 26.67 26 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222283898 222283898 + RNA SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 222283898 222283898 G T SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ENSG00000116106 22 7 24.14 39 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222284720 222284720 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 222284720 222284720 G A SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ENSG00000116106 30 9 23.08 23 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222291250 222291250 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 222291250 222291250 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.2780 p.R927Q 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 6 26 81.25 55 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222294716 222294716 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 222294716 222294716 G A SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known silent c.2652 p.N884 0.999 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 248 59 19.22 335 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222298944 222298944 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 222298944 222298944 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.2414 p.S805N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 48 42 46.67 125 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222307658 222307658 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 222307658 222307658 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known silent c.1965 p.L655 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 61 20 24.69 42 0 0.00 EPHA4 2043 genome.wustl.edu 37 2 222307723 222307723 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 222307723 222307723 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.1900 p.E634K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 65 25 27.47 133 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66189873 66189873 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 66189873 66189873 C G SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.3073 p.E1025Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 38 9 19.15 69 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66201813 66201813 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 66201813 66201813 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known silent c.2689 p.L897 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 20 17 45.95 31 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66231719 66231719 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 66231719 66231719 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known nonsense c.1981 p.Q661* 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 70 24 25.53 25 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66280031 66280031 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 66280031 66280031 C T SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1658 p.R553Q 1.000 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 17 8 32.00 34 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66280088 66280088 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 66280088 66280088 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1601 p.S534L 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 27 11 28.95 22 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66356421 66356421 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 66356421 66356421 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1076 p.S359F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 27 14 34.15 44 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66361197 66361197 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 66361197 66361197 G T SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.975 p.H325Q 1.000 superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 38 18 32.14 87 0 0.00 EPHA5 2044 genome.wustl.edu 37 4 66467429 66467429 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 66467429 66467429 C A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known silent c.840 p.G280 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 29 4 12.12 43 0 0.00 EPHA6 285220 genome.wustl.edu 37 3 97202827 97202827 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 97202827 97202827 C T SNP EPHA6 ENST00000389672 human ensembl 70_37 +1 known silent c.2124 p.D708 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 18 15 45.45 63 0 0.00 EPHA7 2045 genome.wustl.edu 37 6 94066513 94066513 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 94066513 94066513 C T SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.1246 p.E416K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 27 15 35.71 49 0 0.00 EPHA7 2045 genome.wustl.edu 37 6 94066638 94066638 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 94066638 94066638 C A SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.1121 p.W374L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 108 16 12.90 91 0 0.00 EPHA7 2045 genome.wustl.edu 37 6 94068049 94068049 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 94068049 94068049 C T SNP EPHA7 ENST00000369303 human ensembl 70_37 -1 known missense c.913 p.E305K 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 18 8 30.77 35 0 0.00 EPHA8 2046 genome.wustl.edu 37 1 22903298 22903298 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 22903298 22903298 G C SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known missense c.748 p.E250Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC ENSG00000070886 84 19 18.45 80 0 0.00 EPHA8 2046 genome.wustl.edu 37 1 22912997 22912997 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 22912997 22912997 C T SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known missense c.848 p.S283L 1.000 superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC ENSG00000070886 42 9 17.65 78 0 0.00 EPHA8 2046 genome.wustl.edu 37 1 22920082 22920082 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22920082 22920082 C G SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known silent c.1506 p.L502 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC ENSG00000070886 52 15 22.39 54 0 0.00 EPHB1 2047 genome.wustl.edu 37 3 134670464 134670464 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 134670464 134670464 G T SNP EPHB1 ENST00000398015 human ensembl 70_37 +1 known missense c.375 p.K125N 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 46 16 25.81 71 0 0.00 EPHB1 2047 genome.wustl.edu 37 3 134670480 134670480 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 134670480 134670480 G C SNP EPHB1 ENST00000398015 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 53 14 20.90 77 0 0.00 EPHB2 2048 genome.wustl.edu 37 1 23110978 23110978 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 23110978 23110978 C T SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.220 p.R74W 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 10 8 42.11 36 0 0.00 EPHB2 2048 genome.wustl.edu 37 1 23208941 23208941 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 23208941 23208941 G T SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.1393 p.V465L 0.987 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 50 28 35.90 105 0 0.00 EPHB2 2048 genome.wustl.edu 37 1 23236890 23236890 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 23236890 23236890 G A SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.2518 p.E840K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 24 5 17.24 26 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184294866 184294866 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 184294866 184294866 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1249 p.A417T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 12 5 29.41 25 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184294913 184294913 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 184294913 184294913 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known silent c.1296 p.S432 0.964 pfam_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 51 16 23.88 54 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184295250 184295250 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184295250 184295250 G C SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1474 p.E492Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 89 19 17.59 52 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184295445 184295445 + Splice_Site SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 184295445 184295445 G C SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known splice_site c.1480-1 e7-1 1.000 - - - no_errors EPHB3 HGNC ENSG00000182580 32 10 23.81 24 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184297318 184297318 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 184297318 184297318 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1855 p.E619K 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 45 7 13.46 76 0 0.00 EPHB3 2049 genome.wustl.edu 37 3 184298864 184298864 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 184298864 184298864 C G SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known silent c.2643 p.L881 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 65 14 17.72 35 0 0.00 EPHB4 2050 genome.wustl.edu 37 7 100401185 100401185 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100401185 100401185 C T SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.2862 p.L954 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 77 18 18.95 85 0 0.00 EPHB4 2050 genome.wustl.edu 37 7 100401197 100401197 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 100401197 100401197 G A SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.2850 p.I950 0.984 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 98 50 33.78 76 0 0.00 EPHB4 2050 genome.wustl.edu 37 7 100404047 100404047 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100404047 100404047 G C SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known missense c.2479 p.Q827E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 24 16 40.00 40 0 0.00 EPHB4 2050 genome.wustl.edu 37 7 100414848 100414848 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 100414848 100414848 G A SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.1554 p.F518 0.757 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 44 31 41.33 96 0 0.00 EPHB4 2050 genome.wustl.edu 37 7 100414872 100414872 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 100414872 100414872 G A SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.1530 p.R510 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 37 26 41.27 54 0 0.00 EPHB6 2051 genome.wustl.edu 37 7 142561388 142561388 + Splice_Site SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 142561388 142561388 G C SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known splice_site c.101-1 e2-1 1.000 - - - no_errors EPHB6 HGNC ENSG00000106123 80 15 15.79 62 0 0.00 EPHB6 2051 genome.wustl.edu 37 7 142563735 142563735 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 142563735 142563735 G C SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1123 p.E375Q 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 24 4 14.29 46 0 0.00 EPHB6 2051 genome.wustl.edu 37 7 142563810 142563810 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 142563810 142563810 G A SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1198 p.D400N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 32 8 20.00 39 0 0.00 EPHB6 2051 genome.wustl.edu 37 7 142563943 142563943 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 142563943 142563943 G A SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1331 p.R444Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 14 7 33.33 41 0 0.00 EPHB6 2051 genome.wustl.edu 37 7 142566338 142566338 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 142566338 142566338 C T SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known silent c.2127 p.A709 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 40 14 25.93 32 0 0.00 EPHX1 2052 genome.wustl.edu 37 1 226019653 226019653 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 226019653 226019653 G A SNP EPHX1 ENST00000272167 human ensembl 70_37 +1 known silent c.357 p.K119 1.000 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 42 6 12.50 49 0 0.00 EPHX2 2053 genome.wustl.edu 37 8 27373884 27373884 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 27373884 27373884 G A SNP EPHX2 ENST00000521400 human ensembl 70_37 +1 known missense c.879 p.M293I 1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors EPHX2 HGNC ENSG00000120915 44 5 10.20 100 0 0.00 EPHX2 2053 genome.wustl.edu 37 8 27398141 27398141 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 27398141 27398141 C G SNP EPHX2 ENST00000521400 human ensembl 70_37 +1 known missense c.1347 p.F449L 0.970 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors EPHX2 HGNC ENSG00000120915 86 29 25.22 119 0 0.00 EPHX3 79852 genome.wustl.edu 37 19 15342841 15342841 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 15342841 15342841 C T SNP EPHX3 ENST00000221730 human ensembl 70_37 -1 known missense c.182 p.S61N 0.000 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 6 12 66.67 10 0 0.00 EPM2AIP1 9852 genome.wustl.edu 37 3 37033287 37033287 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37033287 37033287 C T SNP EPM2AIP1 ENST00000322716 human ensembl 70_37 -1 known missense c.1282 p.E428K 0.107 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 25 7 21.88 28 0 0.00 EPM2AIP1 9852 genome.wustl.edu 37 3 37034248 37034248 + Silent SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 37034248 37034248 G T SNP EPM2AIP1 ENST00000322716 human ensembl 70_37 -1 known silent c.321 p.L107 0.389 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 15 10 40.00 18 0 0.00 EPN1 29924 genome.wustl.edu 37 19 56196968 56196968 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56196968 56196968 G A SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.768 p.A256 0.951 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 18 8 30.77 31 0 0.00 EPN1 29924 genome.wustl.edu 37 19 56203149 56203149 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 56203149 56203149 C T SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.1050 p.F350 0.998 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 90 14 13.46 35 0 0.00 EPN1 29924 genome.wustl.edu 37 19 56206237 56206237 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 56206237 56206237 G A SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.1668 p.T556 0.168 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 28 7 20.00 30 0 0.00 EPN2 22905 genome.wustl.edu 37 17 19186471 19186471 + Silent SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 19186471 19186471 C T SNP EPN2 ENST00000314728 human ensembl 70_37 +1 known silent c.39 p.I13 0.995 superfamily_ENTH_VHS,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 45 17 27.42 56 0 0.00 EPN2 22905 genome.wustl.edu 37 17 19186876 19186876 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19186876 19186876 C G SNP EPN2 ENST00000314728 human ensembl 70_37 +1 known silent c.444 p.L148 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 21 19 47.50 41 0 0.00 EPN3 55040 genome.wustl.edu 37 17 48618234 48618234 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 17 48618234 48618234 G A SNP EPN3 ENST00000537145 human ensembl 70_37 +1 known missense c.1144 p.V382I 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 31 16 34.04 34 0 0.00 EPN3 55040 genome.wustl.edu 37 17 48618394 48618394 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48618394 48618394 G C SNP EPN3 ENST00000537145 human ensembl 70_37 +1 known missense c.1304 p.G435A 0.934 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 20 20 50.00 54 0 0.00 EPOR 2057 genome.wustl.edu 37 19 11491610 11491610 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11491610 11491610 G T SNP EPOR ENST00000222139 human ensembl 70_37 -1 known silent c.777 p.L259 0.831 pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 42 6 12.50 40 0 0.00 EPOR 2057 genome.wustl.edu 37 19 11492424 11492424 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11492424 11492424 G A SNP EPOR ENST00000222139 human ensembl 70_37 -1 known missense c.529 p.H177Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 29 6 17.14 46 0 0.00 EPPIN 57119 genome.wustl.edu 37 20 44175982 44175982 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44175982 44175982 T C SNP EPPIN ENST00000555685 human ensembl 70_37 -1 known silent c.15 p.G5 0.008 NULL pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN HGNC ENSG00000101448 44 9 16.98 83 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144940827 144940827 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144940827 144940827 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.6595 p.D2199N 0.001 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 19 9 32.14 30 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144941826 144941826 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 144941826 144941826 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.5596 p.D1866N 0.276 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 38 37 49.33 68 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144941887 144941887 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144941887 144941887 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.5535 p.I1845 0.080 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 124 30 19.48 124 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144942235 144942235 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144942235 144942235 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.5187 p.F1729 0.989 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 99 41 29.29 102 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144942649 144942649 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144942649 144942649 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.4773 p.L1591 0.023 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 52 15 22.39 30 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144942883 144942883 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144942883 144942883 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4539 p.E1513D 0.011 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 35 6 14.63 16 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144942955 144942955 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144942955 144942955 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.4467 p.L1489 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 13 7 35.00 14 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144943044 144943044 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144943044 144943044 C G SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4378 p.G1460R 0.995 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 48 11 18.64 19 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144943362 144943362 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 144943362 144943362 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4060 p.P1354S 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 10 6 37.50 16 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144943461 144943461 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 144943461 144943461 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.3961 p.E1321K 0.978 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 13 9 40.91 20 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144943471 144943471 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144943471 144943471 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.3951 p.L1317 0.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 15 5 25.00 16 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144943526 144943526 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144943526 144943526 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.3896 p.S1299L 0.147 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 12 4 25.00 11 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144945320 144945320 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144945320 144945320 G C SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.2102 p.S701C 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 129 88 40.18 92 0 0.00 EPPK1 83481 genome.wustl.edu 37 8 144945860 144945860 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144945860 144945860 G C SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known nonsense c.1562 p.S521* 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 13 7 35.00 27 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220142417 220142417 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 220142417 220142417 G C SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.4371 p.I1457M 1.000 pfam_Pro-tRNA_ligase_II_C,superfamily_Pro-tRNA_synth_II,smart_Pro-tRNA_ligase_II_C,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 21 3 12.50 20 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220151900 220151900 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 220151900 220151900 G T SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.4071 p.H1357Q 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 20 4 16.67 21 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220152022 220152022 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 220152022 220152022 C G SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.3949 p.E1317Q 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 40 9 18.37 31 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220184323 220184323 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 220184323 220184323 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known nonsense c.1570 p.Q524* 0.997 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 52 22 28.95 107 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220197645 220197645 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 220197645 220197645 C T SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.904 p.E302K 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 39 30 43.48 44 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220205772 220205772 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 220205772 220205772 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.485 p.S162L 0.994 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 63 22 25.88 122 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220206942 220206942 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220206942 220206942 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.290 p.S97F 0.593 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 67 25 27.17 71 0 0.00 EPRS 2058 genome.wustl.edu 37 1 220219795 220219795 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 220219795 220219795 G A SNP EPRS ENST00000477030 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EPRS HGNC ENSG00000136628 22 16 42.11 24 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51869122 51869122 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 51869122 51869122 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1760 p.S587C 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 21 6 22.22 33 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51875224 51875224 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 51875224 51875224 C A SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1258 p.A420S 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 49 9 15.52 46 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51875362 51875362 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 51875362 51875362 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1120 p.Q374E 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 40 10 20.00 75 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51910614 51910614 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 51910614 51910614 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.901 p.H301D 1.000 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 61 20 24.69 80 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51912653 51912653 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 51912653 51912653 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.776 p.S259C 0.963 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 48 12 20.00 32 0 0.00 EPS15 2060 genome.wustl.edu 37 1 51912653 51912653 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 51912653 51912653 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.776 p.S259C 0.963 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 63 15 19.23 150 1 0.65 EPS15 2060 genome.wustl.edu 37 1 51912772 51912772 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 51912772 51912772 A T SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known silent c.657 p.V219 1.000 smart_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 13 8 38.10 36 0 0.00 EPS15L1 58513 genome.wustl.edu 37 19 16524625 16524625 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 16524625 16524625 C T SNP EPS15L1 ENST00000455140 human ensembl 70_37 -1 known missense c.1225 p.E409K 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 63 8 11.27 162 0 0.00 EPS8 2059 genome.wustl.edu 37 12 15793665 15793665 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15793665 15793665 G A SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.1793 p.A598V 1.000 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 12 4 25.00 29 0 0.00 EPS8 2059 genome.wustl.edu 37 12 15800130 15800130 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 15800130 15800130 C G SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.1499 p.R500T 0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 33 7 17.50 44 0 0.00 EPS8 2059 genome.wustl.edu 37 12 15813561 15813561 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 15813561 15813561 C A SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.924 p.R308S 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 25 4 13.79 44 0 0.00 EPS8L1 54869 genome.wustl.edu 37 19 55591881 55591881 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 55591881 55591881 G A SNP EPS8L1 ENST00000245618 human ensembl 70_37 +1 known missense c.20 p.R7K 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 47 8 14.55 76 0 0.00 EPS8L1 54869 genome.wustl.edu 37 19 55593878 55593878 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 55593878 55593878 G A SNP EPS8L1 ENST00000201647 human ensembl 70_37 +1 known silent c.1122 p.L374 0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 54 12 18.18 64 0 0.00 EPS8L1 54869 genome.wustl.edu 37 19 55594890 55594890 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 55594890 55594890 G A SNP EPS8L1 ENST00000586329 human ensembl 70_37 +1 novel silent c.1305 p.V435 0.990 NULL pfam_PTB,superfamily_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 10 6 37.50 18 0 0.00 EPS8L1 54869 genome.wustl.edu 37 19 55597237 55597237 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 55597237 55597237 C T SNP EPS8L1 ENST00000201647 human ensembl 70_37 +1 known missense c.1414 p.P472S 0.285 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 43 9 17.31 15 0 0.00 EPS8L2 64787 genome.wustl.edu 37 11 709426 709426 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 709426 709426 G C SNP EPS8L2 ENST00000318562 human ensembl 70_37 +1 known missense c.19 p.V7L 0.020 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 38 23 37.70 76 0 0.00 EPS8L2 64787 genome.wustl.edu 37 11 726667 726667 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 726667 726667 C T SNP EPS8L2 ENST00000318562 human ensembl 70_37 +1 known silent c.1983 p.L661 0.987 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 5 15 75.00 11 0 0.00 EPS8L3 79574 genome.wustl.edu 37 1 110295775 110295775 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 110295775 110295775 G T SNP EPS8L3 ENST00000369805 human ensembl 70_37 -1 known missense c.1167 p.F389L 0.733 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 15 14 48.28 49 0 0.00 EPS8L3 79574 genome.wustl.edu 37 1 110301890 110301890 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 110301890 110301890 G T SNP EPS8L3 ENST00000369805 human ensembl 70_37 -1 known missense c.375 p.S125R 0.863 pfam_PTB pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 33 4 10.81 35 0 0.00 EPSTI1 94240 genome.wustl.edu 37 13 43462600 43462600 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 43462600 43462600 G C SNP EPSTI1 ENST00000313640 human ensembl 70_37 -1 known nonsense c.1019 p.S340* 0.586 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 20 6 23.08 20 0 0.00 EPSTI1 94240 genome.wustl.edu 37 13 43491701 43491701 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 43491701 43491701 C G SNP EPSTI1 ENST00000313640 human ensembl 70_37 -1 known missense c.750 p.K250N 0.962 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 23 32 58.18 106 0 0.00 EPX 8288 genome.wustl.edu 37 17 56270823 56270823 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 56270823 56270823 C T SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.262 p.R88W 0.001 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 31 23 42.59 36 0 0.00 EPX 8288 genome.wustl.edu 37 17 56276426 56276426 + Silent SNP C C A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 56276426 56276426 C A SNP EPX ENST00000225371 human ensembl 70_37 +1 known silent c.1146 p.P382 0.848 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 33 16 32.65 47 0 0.00 EPX 8288 genome.wustl.edu 37 17 56276955 56276955 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56276955 56276955 G C SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1337 p.R446T 0.155 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 23 13 36.11 46 0 0.00 EPX 8288 genome.wustl.edu 37 17 56277152 56277152 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56277152 56277152 G A SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1534 p.E512K 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 37 17 31.48 48 0 0.00 EPX 8288 genome.wustl.edu 37 17 56277684 56277684 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 56277684 56277684 C T SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1636 p.R546W 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 84 13 13.27 96 0 0.00 EPYC 1833 genome.wustl.edu 37 12 91366698 91366698 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 91366698 91366698 C A SNP EPYC ENST00000261172 human ensembl 70_37 -1 known nonsense c.400 p.E134* 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 16 5 23.81 36 0 0.00 EPYC 1833 genome.wustl.edu 37 12 91371936 91371936 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 91371936 91371936 G A SNP EPYC ENST00000261172 human ensembl 70_37 -1 known missense c.269 p.P90L 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 12 5 29.41 57 0 0.00 EQTN 54586 genome.wustl.edu 37 9 27294471 27294471 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 27294471 27294471 G C SNP EQTN ENST00000484994 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EQTN HGNC ENSG00000120160 29 13 30.95 37 0 0.00 EQTN 54586 genome.wustl.edu 37 9 27296981 27296981 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 27296981 27296981 C T SNP EQTN ENST00000380032 human ensembl 70_37 -1 known missense c.73 p.E25K 0.058 NULL NULL - no_errors EQTN HGNC ENSG00000120160 24 4 14.29 41 0 0.00 ERAL1 26284 genome.wustl.edu 37 17 27182228 27182228 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27182228 27182228 C T SNP ERAL1 ENST00000254928 human ensembl 70_37 +1 known missense c.176 p.S59L 0.001 NULL pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 26 13 33.33 49 0 0.00 ERAP1 51752 genome.wustl.edu 37 5 96112236 96112236 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 96112236 96112236 G C SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known missense c.2690 p.S897C 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 10 9 47.37 16 0 0.00 ERAP1 51752 genome.wustl.edu 37 5 96127859 96127859 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 96127859 96127859 C T SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known missense c.1225 p.E409K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 28 9 24.32 51 0 0.00 ERAP1 51752 genome.wustl.edu 37 5 96139368 96139368 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 96139368 96139368 G A SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.347 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 72 20 21.74 71 0 0.00 ERAP2 64167 genome.wustl.edu 37 5 96249054 96249054 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 96249054 96249054 C G SNP ERAP2 ENST00000437043 human ensembl 70_37 +1 known missense c.2550 p.I850M 0.798 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 40 7 14.89 27 0 0.00 ERAS 3266 genome.wustl.edu 37 X 48688086 48688086 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 48688086 48688086 C T SNP ERAS ENST00000338270 human ensembl 70_37 +1 known missense c.553 p.R185W 0.007 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ERAS HGNC ENSG00000187682 51 22 30.14 59 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37866407 37866407 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37866407 37866407 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 16 6 27.27 27 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37866671 37866671 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 37866671 37866671 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.838 p.E280Q 0.999 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 10 12 54.55 14 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 198 124 38.27 339 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 44 16 26.67 89 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 44 43 49.43 67 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 20 21 51.22 90 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37871593 37871593 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 37871593 37871593 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.1203 p.E401D 0.984 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 30 26 46.43 40 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37879603 37879603 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 37879603 37879603 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.1978 p.G660R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 59 33 35.87 101 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 37880261 37880261 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.2305 p.D769H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 14 4 22.22 24 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37881425 37881425 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 37881425 37881425 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.2617 p.D873N 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 52 20 27.78 65 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37883623 37883623 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 37883623 37883623 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.3235 p.E1079K 0.537 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 14 3 16.67 20 0 0.00 ERBB2 2064 genome.wustl.edu 37 17 37884255 37884255 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 37884255 37884255 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known silent c.3726 p.T1242 0.609 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 22 13 37.14 36 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65307894 65307894 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 65307894 65307894 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 40 16 28.57 53 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65338985 65338985 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 65338985 65338985 G C SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1387 p.E463Q 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 18 14 43.75 29 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65339981 65339981 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 65339981 65339981 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1445 p.R482K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 35 5 12.50 38 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65342187 65342187 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 65342187 65342187 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1609 p.E537K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 16 22 57.89 44 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65370955 65370955 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 65370955 65370955 G C SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.3860 p.R1287T 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 21 13 38.24 34 0 0.00 ERBB2IP 55914 genome.wustl.edu 37 5 65371026 65371026 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 65371026 65371026 C T SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.3931 p.P1311S 0.998 superfamily_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 16 3 15.79 30 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 109 29 21.01 116 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 55 10 15.38 28 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 44 39 46.99 84 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 98 81 45.25 99 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 37 35 48.61 66 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56481622 56481622 + Missense_Mutation SNP T T A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 56481622 56481622 T A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.657 p.F219L 0.997 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 42 20 32.26 55 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56482537 56482537 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 56482537 56482537 G C SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.994 p.E332Q 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 26 13 33.33 52 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56486842 56486842 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56486842 56486842 G C SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.1256 p.G419A 0.999 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 29 9 23.68 22 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56488256 56488256 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 56488256 56488256 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.1775 p.G592E 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 82 36 30.51 128 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56489566 56489566 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56489566 56489566 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.2031 p.M677I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 29 21 42.00 52 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56493441 56493441 + Missense_Mutation SNP T T C TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 56493441 56493441 T C SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.2849 p.I950T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 30 14 31.82 42 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56495457 56495457 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495457 56495457 C T SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.3647 p.S1216F 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 53 14 20.59 59 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56495503 56495503 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495503 56495503 C T SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known silent c.3693 p.L1231 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 47 16 25.40 52 0 0.00 ERBB3 2065 genome.wustl.edu 37 12 56495513 56495513 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495513 56495513 C A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.3703 p.L1235M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 44 13 22.81 58 0 0.00 ERBB4 2066 genome.wustl.edu 37 2 212248368 212248368 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 212248368 212248368 G A SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.3899 p.P1300L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 30 20 39.22 39 0 0.00 ERBB4 2066 genome.wustl.edu 37 2 212248574 212248574 + Missense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 212248574 212248574 C G SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.3693 p.E1231D 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 21 69 75.82 132 0 0.00 ERBB4 2066 genome.wustl.edu 37 2 212495258 212495258 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 212495258 212495258 T C SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.2008 p.T670A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 10 4 28.57 44 0 0.00 ERBB4 2066 genome.wustl.edu 37 2 212530163 212530163 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 212530163 212530163 C T SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.1756 p.G586S 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 57 15 20.83 153 0 0.00 ERC1 23085 genome.wustl.edu 37 12 1192462 1192462 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 1192462 1192462 C G SNP ERC1 ENST00000360905 human ensembl 70_37 +1 known missense c.802 p.Q268E 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 46 12 20.69 54 0 0.00 ERC1 23085 genome.wustl.edu 37 12 1372230 1372230 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 1372230 1372230 G C SNP ERC1 ENST00000360905 human ensembl 70_37 +1 known missense c.2518 p.E840Q 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 49 16 24.62 70 0 0.00 ERC2 26059 genome.wustl.edu 37 3 55543687 55543687 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 3 55543687 55543687 C T SNP ERC2 ENST00000484530 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ERC2 HGNC ENSG00000187672 9 6 40.00 31 0 0.00 ERC2 26059 genome.wustl.edu 37 3 55544664 55544664 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 55544664 55544664 G C SNP ERC2 ENST00000469720 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 21 12 36.36 27 0 0.00 ERC2 26059 genome.wustl.edu 37 3 56173671 56173671 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 56173671 56173671 C G SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known missense c.1339 p.E447Q 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 28 23 45.10 36 0 0.00 ERC2 26059 genome.wustl.edu 37 3 56207477 56207477 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 56207477 56207477 C T SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known missense c.1146 p.M382I 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 58 32 35.56 58 0 0.00 ERC2 26059 genome.wustl.edu 37 3 56468506 56468506 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 3 56468506 56468506 G A SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known missense c.530 p.S177F 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 18 20 52.63 39 0 0.00 ERCC2 2068 genome.wustl.edu 37 19 45867377 45867377 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 45867377 45867377 C G SNP ERCC2 ENST00000391945 human ensembl 70_37 -1 known missense c.816 p.R272S 1.000 pfam_DUF1227,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 6 8 57.14 21 0 0.00 ERCC3 2071 genome.wustl.edu 37 2 128030510 128030510 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 128030510 128030510 C T SNP ERCC3 ENST00000285398 human ensembl 70_37 -1 known silent c.1758 p.Q586 0.906 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_XPGB_DNA_repair pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ENSG00000163161 20 31 60.78 19 0 0.00 ERCC3 2071 genome.wustl.edu 37 2 128051204 128051204 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 128051204 128051204 G A SNP ERCC3 ENST00000285398 human ensembl 70_37 -1 known missense c.119 p.S40L 0.933 NULL pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ENSG00000163161 27 24 47.06 29 0 0.00 ERCC4 2072 genome.wustl.edu 37 16 14015888 14015888 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 14015888 14015888 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.208 p.E70K 1.000 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 22 4 15.38 15 0 0.00 ERCC4 2072 genome.wustl.edu 37 16 14026059 14026059 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 14026059 14026059 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.1019 p.R340Q 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 27 12 30.77 38 0 0.00 ERCC4 2072 genome.wustl.edu 37 16 14029049 14029049 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 14029049 14029049 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known silent c.1260 p.L420 0.982 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 12 10 45.45 24 0 0.00 ERCC4 2072 genome.wustl.edu 37 16 14029051 14029051 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 14029051 14029051 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.1262 p.R421K 0.998 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 7 3 30.00 23 0 0.00 ERCC4 2072 genome.wustl.edu 37 16 14041676 14041676 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 14041676 14041676 C G SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known silent c.2223 p.L741 0.109 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain,tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 55 16 22.54 67 0 0.00 ERCC5 2073 genome.wustl.edu 37 13 103514517 103514517 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 103514517 103514517 C G SNP ERCC5 ENST00000355739 human ensembl 70_37 +1 known missense c.1018 p.P340A 1.000 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 25 5 16.67 37 0 0.00 ERCC5 2073 genome.wustl.edu 37 13 103515335 103515335 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103515335 103515335 G T SNP ERCC5 ENST00000355739 human ensembl 70_37 +1 known missense c.1836 p.E612D 0.004 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 9 10 52.63 22 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50678926 50678926 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 50678926 50678926 G C SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known nonsense c.3080 p.S1027* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 45 26 36.62 52 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50732496 50732496 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 50732496 50732496 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.980 p.R327H 0.103 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 44 22 33.33 51 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50732662 50732662 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50732662 50732662 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.814 p.E272K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 38 16 29.63 90 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50732789 50732789 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 50732789 50732789 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.687 p.M229I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 32 17 34.69 25 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50732789 50732789 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 50732789 50732789 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.687 p.M229I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 78 67 46.21 122 0 0.00 ERCC6 2074 genome.wustl.edu 37 10 50740702 50740702 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 50740702 50740702 G A SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known silent c.309 p.D103 0.013 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 46 10 17.86 68 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71425620 71425620 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 71425620 71425620 G A SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known silent c.2997 p.L999 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 34 8 19.05 32 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71426082 71426082 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71426082 71426082 T G SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.2535 p.K845N 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 12 5 29.41 52 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71426886 71426886 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 71426886 71426886 C G SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1731 p.E577D 0.998 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 119 39 24.68 153 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71427103 71427103 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71427103 71427103 C T SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1514 p.R505Q 0.989 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 19 13 40.62 39 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71427447 71427447 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 71427447 71427447 G C SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1170 p.I390M 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 19 4 16.67 57 0 0.00 ERCC6L 54821 genome.wustl.edu 37 X 71427938 71427938 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 71427938 71427938 G A SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.679 p.L227F 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 206 73 26.07 160 0 0.00 ERCC6L2 375748 genome.wustl.edu 37 9 98643199 98643199 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 98643199 98643199 G C SNP ERCC6L2 ENST00000288985 human ensembl 70_37 +1 novel missense c.128 p.G43A 0.988 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 28 11 28.21 21 0 0.00 ERCC6L2 375748 genome.wustl.edu 37 9 98643489 98643489 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 98643489 98643489 G A SNP ERCC6L2 ENST00000288985 human ensembl 70_37 +1 novel missense c.418 p.E140K 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 16 17 51.52 38 0 0.00 ERCC6L2 375748 genome.wustl.edu 37 9 98669408 98669408 + Nonsense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 98669408 98669408 G T SNP ERCC6L2 ENST00000437817 human ensembl 70_37 +1 known nonsense c.109 p.E37* 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 36 26 41.94 38 0 0.00 ERCC6L2 375748 genome.wustl.edu 37 9 98685658 98685658 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 98685658 98685658 G A SNP ERCC6L2 ENST00000437817 human ensembl 70_37 +1 known missense c.996 p.M332I 1.000 pfam_HDA_complex_subunit-2/3 pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 62 11 15.07 61 0 0.00 ERCC6L2 375748 genome.wustl.edu 37 9 98717083 98717083 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 98717083 98717083 G C SNP ERCC6L2 ENST00000456993 human ensembl 70_37 +1 known missense c.1000 p.E334Q 0.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 52 31 37.35 67 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60186718 60186718 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60186718 60186718 G A SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known nonsense c.1039 p.Q347* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 9 8 47.06 24 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60186820 60186820 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 60186820 60186820 C T SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known missense c.937 p.G313S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 43 9 17.31 74 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60188027 60188027 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 60188027 60188027 G A SNP ERCC8 ENST00000462279 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ERCC8 HGNC ENSG00000049167 45 44 49.44 72 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60189042 60189042 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60189042 60189042 C T SNP ERCC8 ENST00000462279 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors ERCC8 HGNC ENSG00000049167 39 34 46.58 64 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60195471 60195471 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 60195471 60195471 G A SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known missense c.701 p.S234L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 13 4 23.53 32 0 0.00 ERCC8 1161 genome.wustl.edu 37 5 60240761 60240761 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60240761 60240761 C T SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known silent c.75 p.R25 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 26 17 39.53 40 0 0.00 ERF 2077 genome.wustl.edu 37 19 42752618 42752618 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 42752618 42752618 C T SNP ERF ENST00000222329 human ensembl 70_37 -1 known silent c.1646 p.*549 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ENSG00000105722 28 17 37.78 38 0 0.00 ERF 2077 genome.wustl.edu 37 19 42752751 42752751 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 42752751 42752751 C G SNP ERF ENST00000222329 human ensembl 70_37 -1 known missense c.1513 p.E505Q 0.849 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ENSG00000105722 20 9 31.03 12 0 0.00 ERF 2077 genome.wustl.edu 37 19 42752793 42752793 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 42752793 42752793 C T SNP ERF ENST00000222329 human ensembl 70_37 -1 known missense c.1471 p.D491N 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ENSG00000105722 18 4 18.18 17 0 0.00 ERF 2077 genome.wustl.edu 37 19 42753654 42753654 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 42753654 42753654 G T SNP ERF ENST00000222329 human ensembl 70_37 -1 known missense c.610 p.P204T 0.603 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ENSG00000105722 10 12 54.55 26 0 0.00 ERF 2077 genome.wustl.edu 37 19 42753675 42753675 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 42753675 42753675 C A SNP ERF ENST00000222329 human ensembl 70_37 -1 known nonsense c.589 p.E197* 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ENSG00000105722 58 11 15.94 85 0 0.00 ERG 2078 genome.wustl.edu 37 21 39772513 39772513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 39772513 39772513 C A SNP ERG ENST00000398919 human ensembl 70_37 -1 known missense c.749 p.R250I 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERG HGNC ENSG00000157554 10 11 52.38 25 0 0.00 ERGIC1 57222 genome.wustl.edu 37 5 172324903 172324903 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 172324903 172324903 C T SNP ERGIC1 ENST00000519860 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ERGIC1 HGNC ENSG00000113719 32 16 33.33 48 0 0.00 ERGIC1 57222 genome.wustl.edu 37 5 172324910 172324910 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 172324910 172324910 C T SNP ERGIC1 ENST00000519860 human ensembl 70_37 +1 known rna NULL NULL 0.955 - - - no_errors ERGIC1 HGNC ENSG00000113719 34 17 33.33 48 0 0.00 ERGIC1 57222 genome.wustl.edu 37 5 172341859 172341859 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 172341859 172341859 C T SNP ERGIC1 ENST00000326654 human ensembl 70_37 +1 putative silent c.258 p.L86 0.000 NULL NULL - no_errors ERGIC1 HGNC ENSG00000113719 70 19 21.35 73 0 0.00 ERGIC1 57222 genome.wustl.edu 37 5 172359474 172359474 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 172359474 172359474 C T SNP ERGIC1 ENST00000393784 human ensembl 70_37 +1 known missense c.577 p.P193S 1.000 pfam_DUF1692 pfam_DUF1692 - no_errors ERGIC1 HGNC ENSG00000113719 25 21 45.65 55 0 0.00 ERGIC3 51614 genome.wustl.edu 37 20 34136939 34136939 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34136939 34136939 G A SNP ERGIC3 ENST00000447986 human ensembl 70_37 +1 known missense c.708 p.M236I 0.001 pfam_DUF1692 pfam_DUF1692 - no_errors ERGIC3 HGNC ENSG00000125991 58 51 46.79 73 0 0.00 ERI1 90459 genome.wustl.edu 37 8 8973882 8973882 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 8973882 8973882 G A SNP ERI1 ENST00000518663 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ERI1 HGNC ENSG00000104626 34 19 35.85 31 0 0.00 ERI2 112479 genome.wustl.edu 37 16 20811296 20811296 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 20811296 20811296 G A SNP ERI2 ENST00000357967 human ensembl 70_37 -1 known missense c.626 p.S209L 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 18 19 51.35 29 0 0.00 ERI3 79033 genome.wustl.edu 37 1 44687112 44687112 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 44687112 44687112 G A SNP ERI3 ENST00000489710 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ERI3 HGNC ENSG00000117419 56 8 12.50 34 0 0.00 ERI3 79033 genome.wustl.edu 37 1 44778898 44778898 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 44778898 44778898 G A SNP ERI3 ENST00000372257 human ensembl 70_37 -1 known silent c.609 p.L203 0.999 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 18 5 21.74 23 0 0.00 ERI3 79033 genome.wustl.edu 37 1 44818566 44818566 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 44818566 44818566 G A SNP ERI3 ENST00000372257 human ensembl 70_37 -1 known missense c.167 p.S56L 0.997 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 18 8 30.77 33 0 0.00 ERICH1 157697 genome.wustl.edu 37 8 623556 623556 + Missense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 623556 623556 C A SNP ERICH1 ENST00000262109 human ensembl 70_37 -1 known missense c.796 p.V266F 0.017 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 32 26 44.83 82 0 0.00 ERICH2 285141 genome.wustl.edu 37 2 171649410 171649411 + Frame_Shift_Ins INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 171649410 171649411 - A INS ERICH2 ENST00000409885 human ensembl 70_37 +1 novel frame_shift_ins c.254_255 p.L88fs 1.000:1.000 NULL NULL - no_errors ERICH2 HGNC ENSG00000204334 52 23 30.67 60 0 0.00 ERICH2 285141 genome.wustl.edu 37 2 171649424 171649424 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 171649424 171649424 C T SNP ERICH2 ENST00000409885 human ensembl 70_37 +1 novel nonsense c.268 p.Q90* 1.000 NULL NULL - no_errors ERICH2 HGNC ENSG00000204334 19 19 50.00 40 0 0.00 ERLEC1 27248 genome.wustl.edu 37 2 54014459 54014459 + Missense_Mutation SNP A A C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 54014459 54014459 A C SNP ERLEC1 ENST00000185150 human ensembl 70_37 +1 known missense c.112 p.S38R 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 66 22 25.00 63 0 0.00 ERLEC1 27248 genome.wustl.edu 37 2 54028725 54028725 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 54028725 54028725 G A SNP ERLEC1 ENST00000185150 human ensembl 70_37 +1 known silent c.717 p.L239 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 32 12 27.27 35 0 0.00 ERLIN1 10613 genome.wustl.edu 37 10 101923794 101923794 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 101923794 101923794 C A SNP ERLIN1 ENST00000407654 human ensembl 70_37 -1 known nonsense c.622 p.E208* 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 109 20 15.50 75 0 0.00 ERLIN2 11160 genome.wustl.edu 37 8 37597898 37597898 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 37597898 37597898 G T SNP ERLIN2 ENST00000276461 human ensembl 70_37 +1 known silent c.123 p.L41 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC ENSG00000147475 36 4 10.00 37 0 0.00 ERMN 57471 genome.wustl.edu 37 2 158178248 158178248 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 158178248 158178248 C T SNP ERMN ENST00000397283 human ensembl 70_37 -1 known silent c.429 p.Q143 0.000 NULL superfamily_Moesin - no_errors ERMN HGNC ENSG00000136541 23 16 41.03 91 0 0.00 ERMN 57471 genome.wustl.edu 37 2 158182121 158182121 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 158182121 158182121 C G SNP ERMN ENST00000397283 human ensembl 70_37 -1 known missense c.73 p.E25Q 0.061 NULL superfamily_Moesin - no_errors ERMN HGNC ENSG00000136541 55 21 27.63 44 0 0.00 ERMP1 79956 genome.wustl.edu 37 9 5787458 5787458 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 5787458 5787458 G C SNP ERMP1 ENST00000339450 human ensembl 70_37 -1 known missense c.2522 p.S841C 0.190 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 25 12 32.43 21 0 0.00 ERN1 2081 genome.wustl.edu 37 17 62122227 62122227 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62122227 62122227 C G SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known missense c.2714 p.R905T 1.000 pfam_KEN_RNase_activator,smart_PUG-dom pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ENSG00000178607 26 20 43.48 37 0 0.00 ERN1 2081 genome.wustl.edu 37 17 62149426 62149426 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 62149426 62149426 C T SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ENSG00000178607 36 16 30.77 34 0 0.00 ERN1 2081 genome.wustl.edu 37 17 62152586 62152586 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 62152586 62152586 C T SNP ERN1 ENST00000433197 human ensembl 70_37 -1 known missense c.304 p.E102K 1.000 superfamily_Quinonprotein_ADH-like pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ENSG00000178607 26 11 29.73 38 0 0.00 ERO1L 30001 genome.wustl.edu 37 14 53112958 53112958 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 14 53112958 53112958 C T SNP ERO1L ENST00000395686 human ensembl 70_37 -1 known silent c.1260 p.L420 0.998 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 - no_errors ERO1L HGNC ENSG00000197930 32 9 21.95 41 0 0.00 ERP27 121506 genome.wustl.edu 37 12 15068496 15068496 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 15068496 15068496 G T SNP ERP27 ENST00000266397 human ensembl 70_37 -1 known missense c.701 p.T234K 0.035 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 22 3 12.00 46 0 0.00 ERP27 121506 genome.wustl.edu 37 12 15068652 15068652 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 15068652 15068652 C G SNP ERP27 ENST00000544881 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ERP27 HGNC ENSG00000139055 25 14 35.90 27 0 0.00 ERP27 121506 genome.wustl.edu 37 12 15090933 15090933 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 15090933 15090933 T C SNP ERP27 ENST00000266397 human ensembl 70_37 -1 known missense c.148 p.M50V 0.701 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 136 25 15.53 200 0 0.00 ERP29 10961 genome.wustl.edu 37 12 112460219 112460219 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112460219 112460219 G C SNP ERP29 ENST00000261735 human ensembl 70_37 +1 known missense c.549 p.Q183H 0.264 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 24 19 44.19 54 0 0.00 ERP29 10961 genome.wustl.edu 37 12 112460369 112460369 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 12 112460369 112460369 G A SNP ERP29 ENST00000261735 human ensembl 70_37 +1 known missense c.699 p.M233I 1.000 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 144 60 29.41 159 0 0.00 ERP44 23071 genome.wustl.edu 37 9 102782991 102782991 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 102782991 102782991 C G SNP ERP44 ENST00000262455 human ensembl 70_37 -1 known missense c.494 p.G165A 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold - no_errors ERP44 HGNC ENSG00000023318 55 21 27.63 77 0 0.00 ERRFI1 54206 genome.wustl.edu 37 1 8073301 8073301 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 8073301 8073301 C T SNP ERRFI1 ENST00000377482 human ensembl 70_37 -1 known missense c.1358 p.R453H 0.999 NULL pfam_GTPase_binding,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 24 19 44.19 79 0 0.00 ERRFI1 54206 genome.wustl.edu 37 1 8073498 8073498 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 8073498 8073498 C T SNP ERRFI1 ENST00000377482 human ensembl 70_37 -1 known silent c.1161 p.K387 1.000 NULL pfam_GTPase_binding,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 57 15 20.83 72 0 0.00 ERV3-1 2086 genome.wustl.edu 37 7 64452419 64452419 + Nonsense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 64452419 64452419 G C SNP ERV3-1 ENST00000394323 human ensembl 70_37 -1 known nonsense c.986 p.S329* 0.108 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 53 15 22.06 76 0 0.00 ERV3-1 2086 genome.wustl.edu 37 7 64452777 64452777 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 7 64452777 64452777 G C SNP ERV3-1 ENST00000394323 human ensembl 70_37 -1 known missense c.628 p.P210A 0.695 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 21 7 25.00 48 0 0.00 ERV3-1 2086 genome.wustl.edu 37 7 64466983 64466983 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 64466983 64466983 G A SNP ERV3-1 ENST00000528878 human ensembl 70_37 -1 known rna NULL NULL 0.342 - - - no_errors ERV3-1 HGNC ENSG00000213462 46 35 43.21 113 0 0.00 ERV3-1 2086 genome.wustl.edu 37 7 64467013 64467013 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 64467013 64467013 G A SNP ERV3-1 ENST00000528878 human ensembl 70_37 -1 known rna NULL NULL 0.052 - - - no_errors ERV3-1 HGNC ENSG00000213462 75 44 36.97 81 0 0.00 ERVH48-1 90625 genome.wustl.edu 37 21 44345495 44345495 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 44345495 44345495 G T SNP ERVH48-1 ENST00000447535 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors ERVH48-1 HGNC ENSG00000233056 9 5 35.71 29 0 0.00 ERVK13-1 100507321 genome.wustl.edu 37 16 2712361 2712361 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2712361 2712361 G A SNP ERVK13-1 ENST00000568395 human ensembl 70_37 -1 known rna NULL NULL 0.215 - - - no_errors ERVK13-1 HGNC ENSG00000260565 19 6 24.00 20 0 0.00 ERVMER34-1 100288413 genome.wustl.edu 37 4 53611528 53611528 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 53611528 53611528 C T SNP ERVMER34-1 ENST00000440542 human ensembl 70_37 -1 known missense c.160 p.E54K 0.006 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 50 11 18.03 61 0 0.00 ERVV-1 147664 genome.wustl.edu 37 19 53517474 53517474 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53517474 53517474 G A SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known missense c.131 p.C44Y 0.018 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ENSG00000269526 28 5 15.15 22 0 0.00 ERVV-1 147664 genome.wustl.edu 37 19 53517721 53517721 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53517721 53517721 T C SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known silent c.378 p.C126 0.038 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ENSG00000269526 8 3 27.27 15 0 0.00 ERVV-1 147664 genome.wustl.edu 37 19 53518516 53518516 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53518516 53518516 C T SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known silent c.1173 p.L391 0.333 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ENSG00000269526 153 39 20.31 156 0 0.00 ERVW-1 30816 genome.wustl.edu 37 7 92098668 92098668 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 92098668 92098668 G A SNP ERVW-1 ENST00000493463 human ensembl 70_37 -1 known missense c.1028 p.S343F 0.535 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 142 23 13.94 175 0 0.00 ERVW-1 30816 genome.wustl.edu 37 7 92099233 92099233 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 92099233 92099233 G A SNP ERVW-1 ENST00000493463 human ensembl 70_37 -1 known missense c.463 p.H155Y 0.356 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 36 4 10.00 104 1 0.95 ESCO1 114799 genome.wustl.edu 37 18 19146125 19146125 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 19146125 19146125 G C SNP ESCO1 ENST00000269214 human ensembl 70_37 -1 known missense c.1688 p.S563C 0.984 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 26 5 16.13 51 0 0.00 ESCO2 157570 genome.wustl.edu 37 8 27633891 27633891 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 27633891 27633891 C T SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known silent c.66 p.F22 0.089 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 37 25 40.32 59 0 0.00 ESCO2 157570 genome.wustl.edu 37 8 27633950 27633950 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 27633950 27633950 A C SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known missense c.125 p.K42T 0.344 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 13 5 27.78 30 0 0.00 ESD 2098 genome.wustl.edu 37 13 47354125 47354125 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 47354125 47354125 G T SNP ESD ENST00000378720 human ensembl 70_37 -1 known missense c.545 p.P182H 1.000 pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol - no_errors ESD HGNC ENSG00000139684 17 3 15.00 44 0 0.00 ESF1 51575 genome.wustl.edu 37 20 13763309 13763309 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 13763309 13763309 C G SNP ESF1 ENST00000202816 human ensembl 70_37 -1 known missense c.478 p.E160Q 0.568 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 9 6 40.00 27 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53662644 53662644 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 53662644 53662644 C T SNP ESPL1 ENST00000552671 human ensembl 70_37 +1 known missense c.94 p.P32S 0.000 NULL NULL - no_errors ESPL1 HGNC ENSG00000135476 18 7 28.00 18 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53663682 53663682 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53663682 53663682 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.956 p.S319L 0.026 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 29 22 43.14 45 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53670603 53670603 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53670603 53670603 C G SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.1900 p.Q634E 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 64 14 17.95 87 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53670904 53670904 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 53670904 53670904 C G SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.1978 p.L660V 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 33 12 26.67 29 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53673569 53673569 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 53673569 53673569 G A SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.2418 p.L806 0.004 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 44 28 38.89 72 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53680114 53680114 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53680114 53680114 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.3594 p.L1198 0.019 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 22 13 37.14 29 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53680360 53680360 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53680360 53680360 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.3840 p.L1280 0.941 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 28 15 34.88 40 0 0.00 ESPL1 9700 genome.wustl.edu 37 12 53687103 53687103 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 53687103 53687103 G C SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.6208 p.D2070H 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 37 6 13.95 42 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6500365 6500365 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 6500365 6500365 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known silent c.540 p.C180 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 17 6 26.09 22 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6504554 6504554 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 6504554 6504554 G A SNP ESPN ENST00000377828 human ensembl 70_37 +1 known missense c.1004 p.R335H 0.997 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 31 7 18.42 52 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6511783 6511783 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6511783 6511783 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known missense c.2036 p.S679L 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 24 14 36.84 31 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6511968 6511968 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 6511968 6511968 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known nonsense c.2137 p.Q713* 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 83 40 32.52 85 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6512126 6512126 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 6512126 6512126 G C SNP ESPN ENST00000377828 human ensembl 70_37 +1 known missense c.2295 p.K765N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 55 12 17.91 60 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6520730 6520730 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 6520730 6520730 C G SNP ESPN ENST00000468561 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ESPN HGNC ENSG00000187017 30 7 18.92 34 0 0.00 ESPN 83715 genome.wustl.edu 37 1 6521027 6521027 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 6521027 6521027 C G SNP ESPN ENST00000468561 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors ESPN HGNC ENSG00000187017 24 5 17.24 19 0 0.00 ESPNL 339768 genome.wustl.edu 37 2 239010706 239010706 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 239010706 239010706 C T SNP ESPNL ENST00000343063 human ensembl 70_37 +1 known missense c.419 p.P140L 0.966 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 9 8 47.06 10 0 0.00 ESPNL 339768 genome.wustl.edu 37 2 239040199 239040199 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 239040199 239040199 C T SNP ESPNL ENST00000343063 human ensembl 70_37 +1 known silent c.2844 p.L948 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 13 8 38.10 18 0 0.00 ESPNP 284729 genome.wustl.edu 37 1 17023009 17023009 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 17023009 17023009 G A SNP ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 255 46 15.28 190 0 0.00 ESPNP 284729 genome.wustl.edu 37 1 17023034 17023034 + RNA SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 17023034 17023034 G C SNP ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 188 24 11.32 283 0 0.00 ESPNP 284729 genome.wustl.edu 37 1 17034125 17034126 + RNA INS - - AGCT TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 17034125 17034126 - AGCT INS ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC ENSG00000268869 2 3 60.00 11 0 0.00 ESR1 2099 genome.wustl.edu 37 6 152163896 152163896 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 152163896 152163896 A G SNP ESR1 ENST00000206249 human ensembl 70_37 +1 known missense c.617 p.K206R 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 34 50 58.82 50 0 0.00 ESRP1 54845 genome.wustl.edu 37 8 95674553 95674553 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95674553 95674553 G C SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 75 34 31.19 44 0 0.00 ESRP1 54845 genome.wustl.edu 37 8 95677406 95677406 + Missense_Mutation SNP T T G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 8 95677406 95677406 T G SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.913 p.F305V 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 26 3 10.34 29 0 0.00 ESRP1 54845 genome.wustl.edu 37 8 95686546 95686546 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 95686546 95686546 C T SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.1463 p.S488L 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 41 9 18.00 76 0 0.00 ESRP1 54845 genome.wustl.edu 37 8 95718132 95718134 + RNA DEL TTT TTT - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 8 95718132 95718134 TTT - DEL ESRP1 ENST00000523347 human ensembl 70_37 +1 known rna NULL NULL 0.006:0.007:0.008 - - - no_errors ESRP1 HGNC ENSG00000104413 19 6 24.00 11 0 0.00 ESRP2 80004 genome.wustl.edu 37 16 68265116 68265116 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 68265116 68265116 C T SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known missense c.1706 p.R569H 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 28 25 47.17 35 0 0.00 ESRP2 80004 genome.wustl.edu 37 16 68265731 68265731 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 68265731 68265731 G A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known missense c.1303 p.R435W 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 8 5 38.46 13 0 0.00 ESRP2 80004 genome.wustl.edu 37 16 68266312 68266312 + Nonsense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 68266312 68266312 G A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known nonsense c.946 p.Q316* 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 42 27 39.13 64 0 0.00 ESRP2 80004 genome.wustl.edu 37 16 68266313 68266313 + Silent SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 68266313 68266313 C A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 41 27 39.71 65 0 0.00 ESRRA 2101 genome.wustl.edu 37 11 64082560 64082560 + Nonsense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 64082560 64082560 C G SNP ESRRA ENST00000000442 human ensembl 70_37 +1 known nonsense c.830 p.S277* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRA HGNC ENSG00000173153 48 9 15.79 45 0 0.00 ESRRB 2103 genome.wustl.edu 37 14 76928889 76928889 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 76928889 76928889 G T SNP ESRRB ENST00000380887 human ensembl 70_37 +1 known silent c.399 p.G133 0.965 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 23 55 69.62 91 0 0.00 ESRRB 2103 genome.wustl.edu 37 14 76957920 76957920 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 76957920 76957920 C T SNP ESRRB ENST00000380887 human ensembl 70_37 +1 known silent c.918 p.I306 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 46 7 13.21 32 0 0.00 ESRRG 2104 genome.wustl.edu 37 1 216850524 216850524 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 216850524 216850524 C T SNP ESRRG ENST00000408911 human ensembl 70_37 -1 known silent c.366 p.S122 0.972 prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 44 26 37.14 95 0 0.00 ESRRG 2104 genome.wustl.edu 37 1 216880805 216880805 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 216880805 216880805 C T SNP ESRRG ENST00000469913 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ESRRG HGNC ENSG00000196482 50 16 24.24 45 0 0.00 ESRRG 2104 genome.wustl.edu 37 1 216896629 216896629 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 216896629 216896629 C G SNP ESRRG ENST00000408911 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 41 16 28.07 69 0 0.00 ESX1 80712 genome.wustl.edu 37 X 103499058 103499058 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 103499058 103499058 C G SNP ESX1 ENST00000372588 human ensembl 70_37 -1 known missense c.283 p.E95Q 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU - no_errors ESX1 HGNC ENSG00000123576 35 7 16.67 55 0 0.00 ESYT1 23344 genome.wustl.edu 37 12 56524184 56524184 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 56524184 56524184 G C SNP ESYT1 ENST00000550986 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors ESYT1 HGNC ENSG00000139641 32 12 27.27 34 0 0.00 ESYT1 23344 genome.wustl.edu 37 12 56527950 56527950 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56527950 56527950 G A SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known silent c.1560 p.V520 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 31 26 44.83 63 0 0.00 ESYT1 23344 genome.wustl.edu 37 12 56528198 56528198 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56528198 56528198 G T SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known nonsense c.1648 p.E550* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 15 16 51.61 27 0 0.00 ESYT1 23344 genome.wustl.edu 37 12 56531321 56531321 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56531321 56531321 G A SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known silent c.2007 p.L669 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 36 11 23.40 38 0 0.00 ESYT2 57488 genome.wustl.edu 37 7 158526571 158526571 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 158526571 158526571 C T SNP ESYT2 ENST00000471192 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors ESYT2 HGNC ENSG00000117868 15 16 51.61 22 0 0.00 ESYT2 57488 genome.wustl.edu 37 7 158534254 158534254 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 158534254 158534254 C T SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.2209 p.A737T 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 63 12 16.00 81 0 0.00 ESYT2 57488 genome.wustl.edu 37 7 158534343 158534343 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 158534343 158534343 C T SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.2120 p.R707K 0.995 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 59 24 28.92 89 0 0.00 ESYT2 57488 genome.wustl.edu 37 7 158560457 158560457 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 158560457 158560457 G A SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.956 p.S319L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 24 15 38.46 53 0 0.00 ESYT2 57488 genome.wustl.edu 37 7 158580781 158580781 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 158580781 158580781 G A SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.805 p.H269Y 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 5 8 61.54 30 0 0.00 ESYT3 83850 genome.wustl.edu 37 3 138178868 138178868 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138178868 138178868 C T SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known nonsense c.730 p.Q244* 0.019 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 64 27 29.67 93 0 0.00 ESYT3 83850 genome.wustl.edu 37 3 138191231 138191231 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 138191231 138191231 G C SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known silent c.1767 p.L589 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 59 19 24.36 51 0 0.00 ESYT3 83850 genome.wustl.edu 37 3 138193129 138193129 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 138193129 138193129 G C SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known missense c.2403 p.R801S 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 42 6 12.50 54 0 0.00 ESYT3 83850 genome.wustl.edu 37 3 138195122 138195122 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 138195122 138195122 G A SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known silent c.2526 p.V842 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 26 13 33.33 32 0 0.00 ESYT3 83850 genome.wustl.edu 37 3 138195301 138195301 + Nonsense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 138195301 138195301 C G SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known nonsense c.2591 p.S864* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 28 26 47.27 28 0 0.00 ETAA1 54465 genome.wustl.edu 37 2 67631408 67631408 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 67631408 67631408 C T SNP ETAA1 ENST00000272342 human ensembl 70_37 +1 known nonsense c.1594 p.Q532* 0.026 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 9 4 30.77 29 0 0.00 ETF1 2107 genome.wustl.edu 37 5 137846286 137846286 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 137846286 137846286 C T SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.1051 p.E351K 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 33 16 32.65 57 0 0.00 ETF1 2107 genome.wustl.edu 37 5 137846755 137846755 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 137846755 137846755 G A SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.997 p.L333F 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 44 6 12.00 34 0 0.00 ETF1 2107 genome.wustl.edu 37 5 137847214 137847214 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 137847214 137847214 G C SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.812 p.S271C 1.000 pfam_eRF1_2,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 36 51 58.62 96 0 0.00 ETFB 2109 genome.wustl.edu 37 19 51848515 51848515 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 51848515 51848515 C T SNP ETFB ENST00000354232 human ensembl 70_37 -1 known missense c.991 p.E331K 1.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 62 11 15.07 87 0 0.00 ETFB 2109 genome.wustl.edu 37 19 51857609 51857609 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 51857609 51857609 G T SNP ETFB ENST00000354232 human ensembl 70_37 -1 known missense c.284 p.S95Y 0.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 14 6 30.00 27 0 0.00 ETFB 2109 genome.wustl.edu 37 19 51857782 51857782 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 51857782 51857782 A G SNP ETFB ENST00000354232 human ensembl 70_37 -1 known silent c.111 p.G37 0.035 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 34 16 32.00 41 0 0.00 ETFB 2109 genome.wustl.edu 37 19 51857829 51857829 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51857829 51857829 T G SNP ETFB ENST00000354232 human ensembl 70_37 -1 known silent c.64 p.R22 0.001 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 43 9 17.31 68 0 0.00 ETFDH 2110 genome.wustl.edu 37 4 159601633 159601633 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 159601633 159601633 C T SNP ETFDH ENST00000511912 human ensembl 70_37 +1 known missense c.49 p.H17Y 0.983 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 34 5 12.82 44 0 0.00 ETHE1 23474 genome.wustl.edu 37 19 44012026 44012026 + Nonstop_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44012026 44012026 C G SNP ETHE1 ENST00000600651 human ensembl 70_37 -1 putative nonstop c.782 p.*261S 0.091 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 16 10 38.46 22 0 0.00 ETHE1 23474 genome.wustl.edu 37 19 44012071 44012071 + Missense_Mutation SNP G G C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 44012071 44012071 G C SNP ETHE1 ENST00000600651 human ensembl 70_37 -1 putative missense c.737 p.S246C 0.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 42 8 16.00 26 0 0.00 ETHE1 23474 genome.wustl.edu 37 19 44012175 44012175 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 44012175 44012175 C T SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known silent c.633 p.L211 1.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 45 8 15.09 44 0 0.00 ETHE1 23474 genome.wustl.edu 37 19 44012939 44012939 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 44012939 44012939 G A SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known missense c.583 p.H195Y 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 37 10 21.28 51 0 0.00 ETHE1 23474 genome.wustl.edu 37 19 44030500 44030500 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 44030500 44030500 C A SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known silent c.228 p.V76 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 35 6 14.63 36 0 0.00 ETNK1 55500 genome.wustl.edu 37 12 22811985 22811985 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 22811985 22811985 C T SNP ETNK1 ENST00000266517 human ensembl 70_37 +1 known missense c.721 p.H241Y 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 13 13 50.00 37 0 0.00 ETNK2 55224 genome.wustl.edu 37 1 204110443 204110443 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 204110443 204110443 C G SNP ETNK2 ENST00000367201 human ensembl 70_37 -1 known missense c.784 p.G262R 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 31 18 36.73 45 0 0.00 ETS1 2113 genome.wustl.edu 37 11 128359203 128359203 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 128359203 128359203 G A SNP ETS1 ENST00000392668 human ensembl 70_37 -1 known silent c.517 p.L173 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 48 12 20.00 100 1 0.99 ETS2 2114 genome.wustl.edu 37 21 40184981 40184981 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 40184981 40184981 C G SNP ETS2 ENST00000360214 human ensembl 70_37 +1 known missense c.127 p.L43V 0.026 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 11 8 42.11 24 0 0.00 ETV1 2115 genome.wustl.edu 37 7 13971147 13971147 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 13971147 13971147 C T SNP ETV1 ENST00000405218 human ensembl 70_37 -1 known missense c.782 p.R261K 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ETV1 HGNC ENSG00000006468 27 7 20.59 28 0 0.00 ETV2 2116 genome.wustl.edu 37 19 36133941 36133941 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 36133941 36133941 G A SNP ETV2 ENST00000402764 human ensembl 70_37 +1 known missense c.229 p.G77R 0.913 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV2 HGNC ENSG00000105672 53 22 29.33 44 0 0.00 ETV2 2116 genome.wustl.edu 37 19 36134313 36134313 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 36134313 36134313 G A SNP ETV2 ENST00000402764 human ensembl 70_37 +1 known missense c.373 p.E125K 0.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV2 HGNC ENSG00000105672 26 9 25.71 17 0 0.00 ETV3L 440695 genome.wustl.edu 37 1 157062807 157062807 + Silent SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 157062807 157062807 C A SNP ETV3L ENST00000454449 human ensembl 70_37 -1 known silent c.720 p.L240 0.001 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV3L HGNC ENSG00000253831 12 10 45.45 30 0 0.00 ETV3L 440695 genome.wustl.edu 37 1 157067741 157067741 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157067741 157067741 C T SNP ETV3L ENST00000454449 human ensembl 70_37 -1 known missense c.526 p.E176K 0.637 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV3L HGNC ENSG00000253831 52 18 25.71 80 0 0.00 ETV4 2118 genome.wustl.edu 37 17 41606046 41606046 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 41606046 41606046 G A SNP ETV4 ENST00000319349 human ensembl 70_37 -1 known silent c.1296 p.F432 1.000 NULL pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC ENSG00000175832 43 6 12.24 48 0 0.00 ETV4 2118 genome.wustl.edu 37 17 41610668 41610668 + Silent SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 41610668 41610668 A G SNP ETV4 ENST00000319349 human ensembl 70_37 -1 known silent c.432 p.G144 0.894 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC ENSG00000175832 12 14 53.85 52 0 0.00 ETV5 2119 genome.wustl.edu 37 3 185766533 185766533 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 185766533 185766533 G A SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known silent c.1554 p.S518 0.002 NULL pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 50 14 21.88 60 0 0.00 ETV5 2119 genome.wustl.edu 37 3 185774866 185774866 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 185774866 185774866 C T SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known missense c.1333 p.E445K 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 40 20 33.33 53 0 0.00 ETV5 2119 genome.wustl.edu 37 3 185798884 185798884 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 185798884 185798884 C T SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known missense c.439 p.E147K 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 261 83 24.13 384 0 0.00 ETV6 2120 genome.wustl.edu 37 12 11905486 11905486 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 11905486 11905486 G C SNP ETV6 ENST00000396373 human ensembl 70_37 +1 known missense c.136 p.D46H 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 32 12 27.27 33 0 0.00 ETV6 2120 genome.wustl.edu 37 12 12037483 12037483 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 12037483 12037483 G C SNP ETV6 ENST00000396373 human ensembl 70_37 +1 known missense c.1114 p.D372H 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 91 41 31.06 88 0 0.00 EVA1A 84141 genome.wustl.edu 37 2 75720424 75720424 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 75720424 75720424 C G SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.397 p.E133Q 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 21 6 22.22 34 0 0.00 EVA1A 84141 genome.wustl.edu 37 2 75720574 75720574 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 75720574 75720574 C T SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.247 p.D83N 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 24 5 16.67 39 0 0.00 EVA1A 84141 genome.wustl.edu 37 2 75720723 75720723 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 75720723 75720723 C T SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.98 p.R33Q 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 10 4 28.57 15 0 0.00 EVC 2121 genome.wustl.edu 37 4 5755658 5755658 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 5755658 5755658 G A SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.1462 p.E488K 0.304 NULL NULL - no_errors EVC HGNC ENSG00000072840 10 5 33.33 34 0 0.00 EVC 2121 genome.wustl.edu 37 4 5758045 5758045 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 5758045 5758045 G C SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.1519 p.E507Q 0.278 NULL NULL - no_errors EVC HGNC ENSG00000072840 24 15 38.46 56 0 0.00 EVC 2121 genome.wustl.edu 37 4 5800331 5800331 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 5800331 5800331 G C SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.2116 p.E706Q 0.998 NULL NULL - no_errors EVC HGNC ENSG00000072840 29 5 14.71 30 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5620249 5620249 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 5620249 5620249 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2662 p.E888K 0.961 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 23 13 36.11 35 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 5620291 5620291 G A SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known nonsense c.2620 p.R874* 0.988 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 15 7 31.82 15 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 5620291 5620291 G A SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known nonsense c.2620 p.R874* 0.988 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 24 7 22.58 36 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5624288 5624288 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 5624288 5624288 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2477 p.R826Q 0.925 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 16 6 27.27 26 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5624319 5624319 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 5624319 5624319 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2446 p.E816K 0.973 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 26 3 10.34 50 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5633675 5633675 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 5633675 5633675 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.1555 p.E519K 0.400 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 43 30 41.10 70 0 0.00 EVC2 132884 genome.wustl.edu 37 4 5633691 5633691 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 5633691 5633691 A C SNP EVC2 ENST00000509670 human ensembl 70_37 -1 known missense c.1291 p.S431A 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 24 7 22.58 63 0 0.00 EVI2B 2124 genome.wustl.edu 37 17 29631855 29631855 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 29631855 29631855 C T SNP EVI2B ENST00000544462 human ensembl 70_37 -1 known missense c.818 p.R273K 0.732 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 114 35 23.18 111 0 0.00 EVI5 7813 genome.wustl.edu 37 1 92979238 92979238 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 92979238 92979238 C G SNP EVI5 ENST00000543509 human ensembl 70_37 -1 known missense c.2441 p.R814T 0.032 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 20 11 35.48 24 0 0.00 EVI5 7813 genome.wustl.edu 37 1 93091306 93091306 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93091306 93091306 G A SNP EVI5 ENST00000492613 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EVI5 HGNC ENSG00000067208 17 7 29.17 24 0 0.00 EVI5 7813 genome.wustl.edu 37 1 93159886 93159886 + Silent SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 93159886 93159886 C G SNP EVI5 ENST00000543509 human ensembl 70_37 -1 known silent c.1101 p.L367 0.999 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 88 25 22.12 111 0 0.00 EVI5 7813 genome.wustl.edu 37 1 93160919 93160919 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 93160919 93160919 G T SNP EVI5 ENST00000543509 human ensembl 70_37 -1 known missense c.989 p.T330K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 35 4 10.26 45 0 0.00 EVI5L 115704 genome.wustl.edu 37 19 7911452 7911452 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 7911452 7911452 C A SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known silent c.24 p.P8 0.433 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 18 4 18.18 19 0 0.00 EVI5L 115704 genome.wustl.edu 37 19 7925449 7925449 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 7925449 7925449 G C SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known missense c.1377 p.E459D 0.305 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 40 30 42.86 50 0 0.00 EVI5L 115704 genome.wustl.edu 37 19 7927119 7927119 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7927119 7927119 G C SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known missense c.1756 p.E586Q 0.998 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 4 11 73.33 30 0 0.00 EVL 51466 genome.wustl.edu 37 14 100604120 100604120 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 100604120 100604120 C G SNP EVL ENST00000392920 human ensembl 70_37 +1 known missense c.1075 p.Q359E 1.000 pirsf_Vasodilator_phosphoprotein pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_EVH1 - no_errors EVL HGNC ENSG00000196405 106 31 22.63 176 0 0.00 EVPL 2125 genome.wustl.edu 37 17 74006158 74006158 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 74006158 74006158 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.3128 p.R1043H 0.001 NULL pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 20 4 16.67 14 0 0.00 EVPL 2125 genome.wustl.edu 37 17 74018012 74018012 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 74018012 74018012 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.743 p.R248H 0.814 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 28 23 44.23 18 0 0.00 EVPL 2125 genome.wustl.edu 37 17 74018065 74018065 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 74018065 74018065 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known silent c.690 p.T230 0.343 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 12 8 40.00 16 0 0.00 EVPL 2125 genome.wustl.edu 37 17 74019720 74019720 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74019720 74019720 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.214 p.E72K 0.004 NULL pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 23 13 36.11 49 0 0.00 EVPLL 645027 genome.wustl.edu 37 17 18286482 18286482 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18286482 18286482 G A SNP EVPLL ENST00000399134 human ensembl 70_37 +1 novel missense c.655 p.V219M 0.984 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 26 10 27.78 24 0 0.00 EVX1 2128 genome.wustl.edu 37 7 27285668 27285668 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 27285668 27285668 C T SNP EVX1 ENST00000496902 human ensembl 70_37 +1 known missense c.848 p.S283L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors EVX1 HGNC ENSG00000106038 5 3 37.50 8 0 0.00 EVX1-AS 101410536 genome.wustl.edu 37 7 27282233 27282233 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 27282233 27282233 C G SNP EVX1-AS ENST00000519050 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EVX1-AS HGNC ENSG00000253405 48 20 29.41 48 0 0.00 EVX1-AS 101410536 genome.wustl.edu 37 7 27282448 27282448 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 27282448 27282448 C T SNP EVX1-AS ENST00000519050 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EVX1-AS HGNC ENSG00000253405 26 18 40.91 57 0 0.00 EVX2 344191 genome.wustl.edu 37 2 176945275 176945275 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 176945275 176945275 G A SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known missense c.991 p.R331W 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 5 3 37.50 21 0 0.00 EVX2 344191 genome.wustl.edu 37 2 176947126 176947126 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 176947126 176947126 G C SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known nonsense c.479 p.S160* 0.243 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 5 4 44.44 9 0 0.00 EVX2 344191 genome.wustl.edu 37 2 176948108 176948108 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 176948108 176948108 C T SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known missense c.397 p.A133T 0.025 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 30 17 36.17 25 0 0.00 EVX2 344191 genome.wustl.edu 37 2 176948343 176948343 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 176948343 176948343 C T SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known silent c.162 p.P54 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 164 81 33.06 72 0 0.00 EWSR1 2130 genome.wustl.edu 37 22 29695785 29695785 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 29695785 29695785 G C SNP EWSR1 ENST00000414183 human ensembl 70_37 +1 known missense c.1890 p.L630F 0.964 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 23 21 47.73 35 0 0.00 EXD1 161829 genome.wustl.edu 37 15 41476476 41476476 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 41476476 41476476 C T SNP EXD1 ENST00000314992 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.003 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 54 19 26.03 55 0 0.00 EXD1 161829 genome.wustl.edu 37 15 41476477 41476477 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 41476477 41476477 C T SNP EXD1 ENST00000314992 human ensembl 70_37 -1 known silent c.1197 p.E399 0.001 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 54 19 26.03 56 0 0.00 EXD2 55218 genome.wustl.edu 37 14 69707600 69707600 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 69707600 69707600 G C SNP EXD2 ENST00000312994 human ensembl 70_37 +1 known splice_site c.1650-1 e8-1 1.000 - - - no_errors EXD2 HGNC ENSG00000081177 19 5 20.83 18 0 0.00 EXD3 54932 genome.wustl.edu 37 9 140242526 140242526 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 140242526 140242526 G A SNP EXD3 ENST00000340951 human ensembl 70_37 -1 known silent c.1995 p.A665 0.886 pfam_DUF82 pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 79 45 36.29 108 0 0.00 EXD3 54932 genome.wustl.edu 37 9 140260773 140260773 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 140260773 140260773 C G SNP EXD3 ENST00000479452 human ensembl 70_37 -1 putative missense c.697 p.E233Q 0.000 NULL NULL - no_errors EXD3 HGNC ENSG00000187609 72 8 10.00 92 0 0.00 EXO1 9156 genome.wustl.edu 37 1 242016700 242016700 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 242016700 242016700 C T SNP EXO1 ENST00000348581 human ensembl 70_37 +1 known missense c.322 p.R108C 1.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors EXO1 HGNC ENSG00000174371 41 15 26.79 59 0 0.00 EXOC1 55763 genome.wustl.edu 37 4 56736998 56736998 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 56736998 56736998 C T SNP EXOC1 ENST00000346134 human ensembl 70_37 +1 known missense c.758 p.S253F 1.000 pfam_Exocyst_Exoc1 pfam_Exocyst_Exoc1 - no_errors EXOC1 HGNC ENSG00000090989 96 28 22.58 111 0 0.00 EXOC3 11336 genome.wustl.edu 37 5 446336 446336 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 446336 446336 C T SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.16 p.R6W 1.000 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 65 30 31.58 61 0 0.00 EXOC3 11336 genome.wustl.edu 37 5 446437 446437 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 446437 446437 G A SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known silent c.117 p.K39 0.980 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 30 10 25.00 52 0 0.00 EXOC3 11336 genome.wustl.edu 37 5 453673 453673 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 453673 453673 G T SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.553 p.D185Y 0.974 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 25 3 10.71 22 0 0.00 EXOC3 11336 genome.wustl.edu 37 5 465238 465238 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 465238 465238 G A SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.1789 p.E597K 0.981 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 15 10 40.00 14 0 0.00 EXOC3L1 283849 genome.wustl.edu 37 16 67221399 67221399 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67221399 67221399 C G SNP EXOC3L1 ENST00000314586 human ensembl 70_37 -1 known missense c.769 p.E257Q 0.991 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 0 7 100.00 14 0 0.00 EXOC3L1 283849 genome.wustl.edu 37 16 67221525 67221525 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67221525 67221525 C A SNP EXOC3L1 ENST00000314586 human ensembl 70_37 -1 known nonsense c.643 p.E215* 0.181 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 2 10 83.33 30 0 0.00 EXOC3L2 90332 genome.wustl.edu 37 19 45716518 45716518 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 45716518 45716518 C T SNP EXOC3L2 ENST00000252482 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.001 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 26 12 31.58 25 0 0.00 EXOC3L2 90332 genome.wustl.edu 37 19 45728159 45728159 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 45728159 45728159 C T SNP EXOC3L2 ENST00000252482 human ensembl 70_37 -1 known silent c.417 p.E139 0.999 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 54 24 30.77 45 0 0.00 EXOC3L4 91828 genome.wustl.edu 37 14 103566619 103566619 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 103566619 103566619 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known silent c.63 p.E21 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 35 18 33.96 54 0 0.00 EXOC3L4 91828 genome.wustl.edu 37 14 103566829 103566829 + Silent SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 103566829 103566829 G C SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known silent c.273 p.L91 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 31 4 11.43 60 0 0.00 EXOC3L4 91828 genome.wustl.edu 37 14 103568544 103568544 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 103568544 103568544 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known missense c.484 p.E162K 0.001 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 15 6 28.57 39 0 0.00 EXOC3L4 91828 genome.wustl.edu 37 14 103568655 103568655 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 103568655 103568655 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known missense c.595 p.E199K 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 1 6 85.71 18 0 0.00 EXOC4 60412 genome.wustl.edu 37 7 132959806 132959806 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 132959806 132959806 G A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known silent c.156 p.E52 1.000 pfam_Sec8_exocyst pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 20 12 37.50 24 0 0.00 EXOC4 60412 genome.wustl.edu 37 7 133502139 133502139 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 133502139 133502139 G A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.1576 p.E526K 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 31 10 24.39 38 0 0.00 EXOC4 60412 genome.wustl.edu 37 7 133622807 133622807 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133622807 133622807 C G SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.2191 p.L731V 0.994 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 36 13 26.53 78 0 0.00 EXOC4 60412 genome.wustl.edu 37 7 133692523 133692523 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 133692523 133692523 T G SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.2622 p.I874M 0.988 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 22 16 42.11 35 0 0.00 EXOC5 10640 genome.wustl.edu 37 14 57675407 57675407 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 57675407 57675407 G C SNP EXOC5 ENST00000413566 human ensembl 70_37 -1 known missense c.2047 p.L683V 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 7 7 50.00 25 0 0.00 EXOC5 10640 genome.wustl.edu 37 14 57699549 57699549 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 57699549 57699549 C T SNP EXOC5 ENST00000554934 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors EXOC5 HGNC ENSG00000070367 9 9 50.00 18 0 0.00 EXOC6 54536 genome.wustl.edu 37 10 94675644 94675644 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 94675644 94675644 G A SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.841 p.E281K 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 38 7 15.56 42 0 0.00 EXOC6 54536 genome.wustl.edu 37 10 94675656 94675656 + Nonsense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 94675656 94675656 G T SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known nonsense c.853 p.E285* 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 37 6 13.95 38 0 0.00 EXOC6 54536 genome.wustl.edu 37 10 94700547 94700547 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 94700547 94700547 G A SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.1324 p.E442K 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 73 14 16.09 111 0 0.00 EXOC6 54536 genome.wustl.edu 37 10 94733981 94733981 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 94733981 94733981 C G SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.1993 p.H665D 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 15 17 53.12 23 0 0.00 EXOC6 54536 genome.wustl.edu 37 10 94818001 94818001 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 94818001 94818001 G C SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.2352 p.K784N 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 36 10 21.74 32 0 0.00 EXOC6B 23233 genome.wustl.edu 37 2 72719498 72719498 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 72719498 72719498 C G SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known silent c.1614 p.L538 0.992 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 26 11 29.73 61 0 0.00 EXOC6B 23233 genome.wustl.edu 37 2 72727091 72727091 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 72727091 72727091 G A SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known missense c.1178 p.S393F 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 38 10 20.83 46 0 0.00 EXOC6B 23233 genome.wustl.edu 37 2 72786617 72786617 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 72786617 72786617 G A SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known missense c.880 p.P294S 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 10 12 54.55 17 0 0.00 EXOC6B 23233 genome.wustl.edu 37 2 72945400 72945400 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 72945400 72945400 C T SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known silent c.501 p.E167 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 39 10 20.41 71 0 0.00 EXOC7 23265 genome.wustl.edu 37 17 74086476 74086476 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 74086476 74086476 G A SNP EXOC7 ENST00000335146 human ensembl 70_37 -1 known missense c.988 p.H330Y 1.000 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 79 21 21.00 121 0 0.00 EXOC7 23265 genome.wustl.edu 37 17 74087299 74087299 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 74087299 74087299 G A SNP EXOC7 ENST00000335146 human ensembl 70_37 -1 known nonsense c.826 p.Q276* 1.000 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 27 15 35.71 57 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231472064 231472064 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231472064 231472064 G C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.1428 p.I476M 0.023 superfamily_Cullin_repeat-like_dom pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 61 21 25.61 66 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231472148 231472148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231472148 231472148 G C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.1344 p.I448M 0.633 superfamily_Cullin_repeat-like_dom pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 92 18 16.36 105 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231472604 231472604 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 231472604 231472604 C T SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known silent c.888 p.A296 0.002 NULL pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 128 29 18.47 133 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231472726 231472726 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 231472726 231472726 A C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.766 p.F256V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 23 8 25.81 44 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231472834 231472834 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231472834 231472834 G A SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known nonsense c.658 p.Q220* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 42 31 42.47 59 0 0.00 EXOC8 149371 genome.wustl.edu 37 1 231473335 231473335 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231473335 231473335 C T SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.157 p.E53K 1.000 pfam_Vps51 pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 33 21 38.89 43 0 0.00 EXOG 9941 genome.wustl.edu 37 3 38565708 38565708 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38565708 38565708 C G SNP EXOG ENST00000287675 human ensembl 70_37 +1 known nonsense c.962 p.S321* 0.368 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 26 4 13.33 34 0 0.00 EXOG 9941 genome.wustl.edu 37 3 38583288 38583288 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 38583288 38583288 C T SNP EXOG ENST00000358249 human ensembl 70_37 +1 known silent c.301 p.L101 0.000 smart_Extracellular_endonuc_su_A pfam_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 13 11 45.83 56 0 0.00 EXOSC1 51013 genome.wustl.edu 37 10 99203046 99203046 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 99203046 99203046 C G SNP EXOSC1 ENST00000370902 human ensembl 70_37 -1 known missense c.170 p.R57T 1.000 superfamily_NA-bd_OB-fold-like pfam_EXOSC1,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1 - no_errors EXOSC1 HGNC ENSG00000171311 184 75 28.74 225 0 0.00 EXOSC10 5394 genome.wustl.edu 37 1 11126779 11126779 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 11126779 11126779 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known missense c.2654 p.R885T 1.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC ENSG00000171824 21 3 12.50 34 0 0.00 EXOSC10 5394 genome.wustl.edu 37 1 11140942 11140942 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11140942 11140942 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known missense c.1465 p.E489Q 1.000 superfamily_HRDC-like pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC ENSG00000171824 17 11 39.29 23 0 0.00 EXOSC10 5394 genome.wustl.edu 37 1 11141160 11141160 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11141160 11141160 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known silent c.1416 p.R472 0.979 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC ENSG00000171824 7 61 89.71 44 0 0.00 EXOSC10 5394 genome.wustl.edu 37 1 11141202 11141202 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 11141202 11141202 G A SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known silent c.1374 p.R458 0.258 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC ENSG00000171824 49 14 22.22 63 0 0.00 EXOSC3 51010 genome.wustl.edu 37 9 37780697 37780697 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 37780697 37780697 G C SNP EXOSC3 ENST00000327304 human ensembl 70_37 -1 known missense c.807 p.F269L 0.997 NULL NULL - no_errors EXOSC3 HGNC ENSG00000107371 28 7 20.00 51 0 0.00 EXOSC4 54512 genome.wustl.edu 37 8 145135043 145135043 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 145135043 145135043 C G SNP EXOSC4 ENST00000316052 human ensembl 70_37 +1 known missense c.369 p.I123M 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC4 HGNC ENSG00000178896 36 14 28.00 34 0 0.00 EXOSC5 56915 genome.wustl.edu 37 19 41903118 41903118 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 41903118 41903118 G A SNP EXOSC5 ENST00000221233 human ensembl 70_37 -1 known missense c.116 p.S39L 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 35 10 22.22 44 0 0.00 EXOSC9 5393 genome.wustl.edu 37 4 122724120 122724120 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 122724120 122724120 G C SNP EXOSC9 ENST00000379663 human ensembl 70_37 +1 known missense c.332 p.R111T 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 89 11 11.00 127 0 0.00 EXOSC9 5393 genome.wustl.edu 37 4 122735121 122735121 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 122735121 122735121 G A SNP EXOSC9 ENST00000379663 human ensembl 70_37 +1 known missense c.1075 p.E359K 0.990 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 146 45 23.56 231 0 0.00 EXPH5 23086 genome.wustl.edu 37 11 108380360 108380360 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 108380360 108380360 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known silent c.5874 p.I1958 1.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 74 46 38.33 143 0 0.00 EXPH5 23086 genome.wustl.edu 37 11 108380989 108380989 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 108380989 108380989 G C SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.5245 p.Q1749E 0.003 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 36 18 33.33 52 0 0.00 EXPH5 23086 genome.wustl.edu 37 11 108381912 108381912 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 108381912 108381912 C G SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.4322 p.R1441T 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 14 7 33.33 27 0 0.00 EXPH5 23086 genome.wustl.edu 37 11 108384244 108384244 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 108384244 108384244 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.1990 p.H664Y 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 61 9 12.68 76 0 0.00 EXPH5 23086 genome.wustl.edu 37 11 108385575 108385575 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 108385575 108385575 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.659 p.A220V 1.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 55 13 18.84 85 0 0.00 EXT1 2131 genome.wustl.edu 37 8 118825165 118825165 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 118825165 118825165 G A SNP EXT1 ENST00000378204 human ensembl 70_37 -1 known silent c.1668 p.I556 0.084 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 20 9 31.03 37 0 0.00 EXTL1 2134 genome.wustl.edu 37 1 26355692 26355692 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 26355692 26355692 G T SNP EXTL1 ENST00000374280 human ensembl 70_37 +1 known missense c.788 p.R263L 0.043 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 16 3 15.79 31 0 0.00 EXTL1 2134 genome.wustl.edu 37 1 26357957 26357957 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 26357957 26357957 G A SNP EXTL1 ENST00000374280 human ensembl 70_37 +1 known missense c.1241 p.R414H 0.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 80 26 24.53 66 0 0.00 EXTL3 2137 genome.wustl.edu 37 8 28574932 28574932 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 28574932 28574932 C T SNP EXTL3 ENST00000220562 human ensembl 70_37 +1 known silent c.1356 p.F452 0.691 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 24 9 26.47 31 0 0.00 EXTL3 2137 genome.wustl.edu 37 8 28575450 28575450 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 28575450 28575450 C T SNP EXTL3 ENST00000220562 human ensembl 70_37 +1 known missense c.1874 p.S625L 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 73 10 11.90 113 0 0.00 EYA1 2138 genome.wustl.edu 37 8 72123465 72123465 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 72123465 72123465 T G SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known missense c.1624 p.I542L 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 43 27 38.57 124 0 0.00 EYA1 2138 genome.wustl.edu 37 8 72128979 72128979 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 72128979 72128979 G A SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known silent c.1308 p.F436 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 62 23 27.06 110 0 0.00 EYA1 2138 genome.wustl.edu 37 8 72129214 72129214 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 72129214 72129214 G A SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known silent c.1185 p.N395 0.832 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 73 13 15.12 64 0 0.00 EYA1 2138 genome.wustl.edu 37 8 72182004 72182004 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 72182004 72182004 T C SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known missense c.1021 p.T341A 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 15 7 31.82 32 0 0.00 EYA2 2139 genome.wustl.edu 37 20 45607194 45607194 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 45607194 45607194 G A SNP EYA2 ENST00000497428 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors EYA2 HGNC ENSG00000064655 38 9 19.15 39 0 0.00 EYA2 2139 genome.wustl.edu 37 20 45618727 45618727 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 45618727 45618727 C T SNP EYA2 ENST00000327619 human ensembl 70_37 +1 known silent c.78 p.D26 0.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 55 30 35.29 78 0 0.00 EYA2 2139 genome.wustl.edu 37 20 45630107 45630107 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45630107 45630107 C G SNP EYA2 ENST00000327619 human ensembl 70_37 +1 known missense c.150 p.F50L 0.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 39 19 32.76 51 0 0.00 EYA3 2140 genome.wustl.edu 37 1 28362124 28362124 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 28362124 28362124 T G SNP EYA3 ENST00000373871 human ensembl 70_37 -1 known missense c.292 p.T98P 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 50 37 42.53 116 0 0.00 EYA3 2140 genome.wustl.edu 37 1 28415061 28415061 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 28415061 28415061 G C SNP EYA3 ENST00000471498 human ensembl 70_37 -1 known rna NULL NULL 0.759 - - - no_errors EYA3 HGNC ENSG00000158161 57 15 20.83 35 0 0.00 EYA4 2070 genome.wustl.edu 37 6 133777755 133777755 + Silent SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 133777755 133777755 A G SNP EYA4 ENST00000355167 human ensembl 70_37 +1 known silent c.339 p.G113 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 14 3 17.65 57 0 0.00 EYS 346007 genome.wustl.edu 37 6 64430725 64430725 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64430725 64430725 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.9265 p.E3089K 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 17 7 29.17 58 0 0.00 EYS 346007 genome.wustl.edu 37 6 64431264 64431264 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 64431264 64431264 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8726 p.G2909D 0.999 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 4 29 87.88 45 0 0.00 EYS 346007 genome.wustl.edu 37 6 64431370 64431370 + Missense_Mutation SNP T T G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 64431370 64431370 T G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8620 p.I2874L 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 23 20 46.51 50 0 0.00 EYS 346007 genome.wustl.edu 37 6 64431558 64431558 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64431558 64431558 C G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8432 p.R2811T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 36 18 33.33 95 0 0.00 EYS 346007 genome.wustl.edu 37 6 64498954 64498954 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 64498954 64498954 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known silent c.7575 p.L2525 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 43 25 36.23 47 0 0.00 EYS 346007 genome.wustl.edu 37 6 64940607 64940607 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 64940607 64940607 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.6302 p.S2101F 0.029 pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 5 6 54.55 24 0 0.00 EYS 346007 genome.wustl.edu 37 6 65301416 65301416 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 65301416 65301416 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known silent c.4344 p.F1448 0.468 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 13 3 18.75 17 0 0.00 EYS 346007 genome.wustl.edu 37 6 65301604 65301604 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 65301604 65301604 C G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.4156 p.D1386H 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 16 22 57.89 27 0 0.00 EYS 346007 genome.wustl.edu 37 6 65707507 65707507 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 65707507 65707507 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.2227 p.E743K 0.979 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 57 37 39.36 43 0 0.00 EYS 346007 genome.wustl.edu 37 6 65767564 65767564 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 65767564 65767564 C A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.2080 p.A694S 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 24 13 35.14 72 0 0.00 EYS 346007 genome.wustl.edu 37 6 66005999 66005999 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 66005999 66005999 G C SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.1780 p.L594V 0.002 smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 37 15 28.85 46 0 0.00 EYS 346007 genome.wustl.edu 37 6 66044995 66044998 + Frame_Shift_Del DEL CTGA CTGA - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 66044995 66044998 CTGA - DEL EYS ENST00000370616 human ensembl 70_37 -1 known frame_shift_del c.1644_1641 p.S547fs 0.000:0.000:0.000:0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 17 11 39.29 151 0 0.00 EYS 346007 genome.wustl.edu 37 6 66200538 66200538 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 66200538 66200538 T C SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.811 p.S271G 0.012 smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 39 11 22.00 51 0 0.00 EYS 346007 genome.wustl.edu 37 6 66204828 66204828 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 66204828 66204828 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.476 p.C159Y 1.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 26 3 10.34 31 0 0.00 EYS 346007 genome.wustl.edu 37 6 66205254 66205254 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 66205254 66205254 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.50 p.S17F 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 17 12 41.38 28 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40857136 40857136 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 40857136 40857136 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.1905 p.K635N 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 11 14 56.00 15 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40857136 40857136 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40857136 40857136 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known silent c.1905 p.K635 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 26 9 25.00 18 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40870628 40870628 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 40870628 40870628 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.775 p.E259Q 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 24 14 35.90 48 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40879686 40879686 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 40879686 40879686 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.213 p.M71I 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 64 14 17.95 45 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40879727 40879727 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 40879727 40879727 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.172 p.E58K 1.000 pfam_EZH2_WD-Binding pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 45 13 22.41 47 0 0.00 EZH1 2145 genome.wustl.edu 37 17 40880971 40880971 + Splice_Site SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 40880971 40880971 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.010 - - - no_errors EZH1 HGNC ENSG00000108799 34 12 26.09 35 0 0.00 EZH2 2146 genome.wustl.edu 37 7 148506428 148506428 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 148506428 148506428 G A SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.2084 p.S695L 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 43 18 29.51 59 0 0.00 EZH2 2146 genome.wustl.edu 37 7 148513787 148513787 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 148513787 148513787 C T SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known silent c.1494 p.K498 0.945 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 21 10 32.26 30 0 0.00 EZH2 2146 genome.wustl.edu 37 7 148515119 148515119 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 148515119 148515119 G A SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.1090 p.P364S 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 33 9 20.93 38 0 0.00 EZH2 2146 genome.wustl.edu 37 7 148515119 148515119 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 148515119 148515119 G A SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.1090 p.P364S 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 93 43 31.39 163 1 0.61 EZH2 2146 genome.wustl.edu 37 7 148523576 148523576 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 148523576 148523576 C G SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.877 p.D293H 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 68 27 28.42 69 0 0.00 EZR 7430 genome.wustl.edu 37 6 159188022 159188022 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 159188022 159188022 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1685 p.R562Q 1.000 pirsf_ERM,pfam_ERM_C,superfamily_Moesin,prints_Ez/rad/moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 86 18 17.31 133 0 0.00 EZR 7430 genome.wustl.edu 37 6 159188508 159188508 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 159188508 159188508 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 7 9 56.25 23 0 0.00 EZR 7430 genome.wustl.edu 37 6 159190392 159190392 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 159190392 159190392 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1310 p.R437H 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 39 17 30.36 73 0 0.00 EZR 7430 genome.wustl.edu 37 6 159190421 159190421 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 159190421 159190421 C A SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1281 p.K427N 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 36 10 21.74 61 0 0.00 EZR 7430 genome.wustl.edu 37 6 159191802 159191802 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 159191802 159191802 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1084 p.E362K 0.001 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 20 12 37.50 46 0 0.00 EZR 7430 genome.wustl.edu 37 6 159210339 159210339 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 159210339 159210339 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.77 p.G26E 0.999 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC ENSG00000092820 24 12 33.33 33 0 0.00 F10 2159 genome.wustl.edu 37 13 113803395 113803395 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 13 113803395 113803395 C A SNP F10 ENST00000375559 human ensembl 70_37 +1 known missense c.1031 p.P344H 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F10 HGNC ENSG00000126218 21 10 32.26 34 0 0.00 F11 2160 genome.wustl.edu 37 4 187201212 187201212 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 187201212 187201212 C T SNP F11 ENST00000403665 human ensembl 70_37 +1 known missense c.802 p.R268C 0.075 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 20 7 25.93 24 0 0.00 F11R 50848 genome.wustl.edu 37 1 160970817 160970817 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 160970817 160970817 C G SNP F11R ENST00000436182 human ensembl 70_37 -1 known missense c.246 p.K82N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC ENSG00000158769 35 8 18.60 53 0 0.00 F11R 50848 genome.wustl.edu 37 1 160971084 160971084 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 160971084 160971084 C G SNP F11R ENST00000436182 human ensembl 70_37 -1 known missense c.136 p.E46Q 0.936 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC ENSG00000158769 140 28 16.67 129 0 0.00 F12 2161 genome.wustl.edu 37 5 176830339 176830339 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 176830339 176830339 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known nonsense c.1447 p.Q483* 0.410 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC ENSG00000131187 16 21 56.76 53 0 0.00 F12 2161 genome.wustl.edu 37 5 176830384 176830384 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 176830384 176830384 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known nonsense c.1402 p.Q468* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC ENSG00000131187 22 18 45.00 44 0 0.00 F12 2161 genome.wustl.edu 37 5 176832361 176832361 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176832361 176832361 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known silent c.360 p.L120 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC ENSG00000131187 43 17 28.33 52 0 0.00 F13A1 2162 genome.wustl.edu 37 6 6167843 6167843 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 6167843 6167843 C G SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known missense c.1756 p.E586Q 0.714 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 60 27 31.03 45 0 0.00 F13A1 2162 genome.wustl.edu 37 6 6174837 6174837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 6174837 6174837 C T SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known missense c.1723 p.D575N 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 50 26 34.21 83 0 0.00 F13A1 2162 genome.wustl.edu 37 6 6174946 6174946 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 6174946 6174946 G T SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known silent c.1614 p.I538 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 43 81 65.32 258 0 0.00 F13B 2165 genome.wustl.edu 37 1 197026206 197026206 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 197026206 197026206 G C SNP F13B ENST00000367412 human ensembl 70_37 -1 known missense c.1108 p.L370V 0.022 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 146 25 14.53 119 0 0.00 F13B 2165 genome.wustl.edu 37 1 197031009 197031009 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 197031009 197031009 G A SNP F13B ENST00000367412 human ensembl 70_37 -1 known missense c.356 p.A119V 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 12 8 40.00 39 0 0.00 F2R 2149 genome.wustl.edu 37 5 76028349 76028349 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 76028349 76028349 G C SNP F2R ENST00000319211 human ensembl 70_37 +1 known missense c.299 p.W100S 1.000 prints_Thrmbn_rcpt,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2R HGNC ENSG00000181104 256 40 13.38 299 0 0.00 F2RL2 2151 genome.wustl.edu 37 5 75913661 75913661 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 75913661 75913661 C T SNP F2RL2 ENST00000296641 human ensembl 70_37 -1 known missense c.871 p.A291T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL2 HGNC ENSG00000164220 16 43 72.88 56 0 0.00 F2RL3 9002 genome.wustl.edu 37 19 17001291 17001291 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 17001291 17001291 C G SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1017 p.I339M 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC ENSG00000127533 16 5 23.81 17 0 0.00 F2RL3 9002 genome.wustl.edu 37 19 17001291 17001291 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 17001291 17001291 C G SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1017 p.I339M 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC ENSG00000127533 34 26 43.33 20 0 0.00 F2RL3 9002 genome.wustl.edu 37 19 17001392 17001392 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 17001392 17001392 G A SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1118 p.G373D 0.000 prints_Prot_act_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC ENSG00000127533 19 5 20.83 12 0 0.00 F3 2152 genome.wustl.edu 37 1 94996028 94996028 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 94996028 94996028 C T SNP F3 ENST00000334047 human ensembl 70_37 -1 known silent c.876 p.L292 0.017 pirsf_Tissue_fac/coagulation_fac-3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 71 12 14.46 61 0 0.00 F5 2153 genome.wustl.edu 37 1 169484809 169484809 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169484809 169484809 G A SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.6416 p.T2139M 0.999 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 32 14 30.43 78 0 0.00 F5 2153 genome.wustl.edu 37 1 169509926 169509926 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 169509926 169509926 C T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.4417 p.E1473K 0.525 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 32 14 30.43 42 0 0.00 F5 2153 genome.wustl.edu 37 1 169509975 169509975 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 169509975 169509975 G T SNP F5 ENST00000367796 human ensembl 70_37 -1 known silent c.4368 p.L1456 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 42 18 30.00 25 0 0.00 F5 2153 genome.wustl.edu 37 1 169510846 169510846 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 169510846 169510846 C A SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.3497 p.R1166L 0.108 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 62 51 45.13 89 0 0.00 F5 2153 genome.wustl.edu 37 1 169511810 169511810 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169511810 169511810 G T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.2533 p.L845I 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 27 14 34.15 59 0 0.00 F5 2153 genome.wustl.edu 37 1 169512260 169512260 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169512260 169512260 C A SNP F5 ENST00000367796 human ensembl 70_37 -1 known nonsense c.2083 p.E695* 0.213 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 15 5 25.00 23 0 0.00 F5 2153 genome.wustl.edu 37 1 169521893 169521893 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 169521893 169521893 C T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.743 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 49 9 15.52 120 0 0.00 F5 2153 genome.wustl.edu 37 1 169525907 169525907 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 169525907 169525907 G C SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.929 p.S310C 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 55 39 41.05 91 0 0.00 F7 2155 genome.wustl.edu 37 13 113768192 113768192 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 113768192 113768192 G C SNP F7 ENST00000375581 human ensembl 70_37 +1 known missense c.348 p.Q116H 1.000 pfam_EG-like_dom,superfamily_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pept_S1A_FX,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F7 HGNC ENSG00000057593 81 22 21.36 139 0 0.00 F7 2155 genome.wustl.edu 37 13 113770018 113770018 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113770018 113770018 G C SNP F7 ENST00000375581 human ensembl 70_37 +1 known missense c.475 p.E159Q 0.998 smart_EG-like_dom,pirsf_Pept_S1A_FX pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F7 HGNC ENSG00000057593 25 10 28.57 47 0 0.00 F8 2157 genome.wustl.edu 37 X 154066005 154066005 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 154066005 154066005 G T SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6923 p.S2308Y 0.980 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 35 10 22.22 74 0 0.00 F8 2157 genome.wustl.edu 37 X 154066021 154066021 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 154066021 154066021 G C SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6907 p.Q2303E 0.986 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 42 15 26.32 42 0 0.00 F8 2157 genome.wustl.edu 37 X 154066024 154066024 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 154066024 154066024 A G SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6904 p.F2302L 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 53 10 15.87 60 0 0.00 F8 2157 genome.wustl.edu 37 X 154132217 154132218 + Frame_Shift_Ins INS - - T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 X 154132217 154132218 - T INS F8 ENST00000360256 human ensembl 70_37 -1 known frame_shift_ins c.5962_5961 p.E1987fs 0.019:0.005 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 43 14 24.56 82 0 0.00 F8 2157 genome.wustl.edu 37 X 154156997 154156997 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 154156997 154156997 C A SNP F8 ENST00000360256 human ensembl 70_37 -1 known nonsense c.5068 p.E1690* 0.807 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 19 14 42.42 48 0 0.00 F8 2157 genome.wustl.edu 37 X 154158428 154158428 + Missense_Mutation SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 154158428 154158428 T A SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.3637 p.I1213F 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 47 21 30.88 81 0 0.00 F8 2157 genome.wustl.edu 37 X 154158444 154158444 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 154158444 154158444 G T SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.3621 p.H1207Q 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 39 5 11.36 41 0 0.00 F8 2157 genome.wustl.edu 37 X 154159334 154159334 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 154159334 154159334 C G SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.2731 p.D911H 0.078 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 5 10 66.67 27 0 0.00 F8 2157 genome.wustl.edu 37 X 154175986 154175986 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 154175986 154175986 C G SNP F8 ENST00000360256 human ensembl 70_37 -1 known silent c.2100 p.S700 0.694 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 12 4 25.00 14 0 0.00 F8 2157 genome.wustl.edu 37 X 154221309 154221309 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 154221309 154221309 G C SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.503 p.S168C 0.994 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 39 15 27.78 51 0 0.00 F8A1 8263 genome.wustl.edu 37 X 154115559 154115559 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 154115559 154115559 G C SNP F8A1 ENST00000369446 human ensembl 70_37 +1 known missense c.910 p.D304H 0.134 NULL NULL - no_errors F8A1 HGNC ENSG00000197932 57 9 13.64 51 0 0.00 F8A1 8263 genome.wustl.edu 37 X 154115607 154115607 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 154115607 154115607 C G SNP F8A1 ENST00000369446 human ensembl 70_37 +1 known missense c.958 p.L320V 0.962 NULL NULL - no_errors F8A1 HGNC ENSG00000197932 130 19 12.75 102 0 0.00 F9 2158 genome.wustl.edu 37 X 138633230 138633230 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 138633230 138633230 C T SNP F9 ENST00000218099 human ensembl 70_37 +1 known missense c.530 p.P177L 1.000 pirsf_Pept_S1A_FX pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 39 26 40.00 82 0 0.00 F9 2158 genome.wustl.edu 37 X 138633355 138633355 + Missense_Mutation SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 138633355 138633355 C A SNP F9 ENST00000218099 human ensembl 70_37 +1 known missense c.655 p.Q219K 0.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_FX pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 111 25 18.38 92 0 0.00 F9 2158 genome.wustl.edu 37 X 138643724 138643724 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 138643724 138643724 C T SNP F9 ENST00000218099 human ensembl 70_37 +1 known nonsense c.880 p.R294* 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 30 27 46.55 46 0 0.00 FA2H 79152 genome.wustl.edu 37 16 74752969 74752969 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 74752969 74752969 G A SNP FA2H ENST00000219368 human ensembl 70_37 -1 known missense c.703 p.R235C 1.000 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FA2H HGNC ENSG00000103089 23 11 32.35 76 0 0.00 FAAH 2166 genome.wustl.edu 37 1 46877860 46877860 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 46877860 46877860 G T SNP FAAH ENST00000243167 human ensembl 70_37 +1 known missense c.1402 p.D468Y 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 78 28 26.42 98 0 0.00 FAAH2 158584 genome.wustl.edu 37 X 57405196 57405196 + Silent SNP C C A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc X 57405196 57405196 C A SNP FAAH2 ENST00000374900 human ensembl 70_37 +1 known silent c.855 p.V285 1.000 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 55 8 12.70 52 0 0.00 FAAH2 158584 genome.wustl.edu 37 X 57405214 57405214 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 57405214 57405214 C G SNP FAAH2 ENST00000374900 human ensembl 70_37 +1 known missense c.873 p.I291M 0.992 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 13 9 40.91 23 0 0.00 FAAH2 158584 genome.wustl.edu 37 X 57515412 57515413 + RNA INS - - T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 57515412 57515413 - T INS FAAH2 ENST00000491179 human ensembl 70_37 +1 known rna NULL NULL 0.018:0.011 - - - no_errors FAAH2 HGNC ENSG00000165591 13 2 13.33 58 0 0.00 FAAH2 158584 genome.wustl.edu 37 X 57515415 57515416 + RNA INS - - T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 57515415 57515416 - T INS FAAH2 ENST00000491179 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.003 - - - no_errors FAAH2 HGNC ENSG00000165591 13 2 13.33 53 0 0.00 FAAH2 158584 genome.wustl.edu 37 X 57515415 57515416 + RNA INS - - T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 X 57515415 57515416 - T INS FAAH2 ENST00000491179 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.003 - - - no_errors FAAH2 HGNC ENSG00000165591 33 9 21.43 42 0 0.00 FABP1 2168 genome.wustl.edu 37 2 88427534 88427534 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88427534 88427534 C T SNP FABP1 ENST00000295834 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP1 HGNC ENSG00000163586 40 8 16.67 64 0 0.00 FABP3 2170 genome.wustl.edu 37 1 31840308 31840308 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 31840308 31840308 G A SNP FABP3 ENST00000373713 human ensembl 70_37 -1 known missense c.280 p.H94Y 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP3 HGNC ENSG00000121769 41 13 24.07 36 0 0.00 FABP4 2167 genome.wustl.edu 37 8 82391026 82391026 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 82391026 82391026 C G SNP FABP4 ENST00000518669 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP4 HGNC ENSG00000170323 31 9 22.50 30 0 0.00 FABP4 2167 genome.wustl.edu 37 8 82395402 82395402 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 82395402 82395402 T C SNP FABP4 ENST00000256104 human ensembl 70_37 -1 known missense c.1 p.M1V 1.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP4 HGNC ENSG00000170323 6 11 64.71 41 0 0.00 FABP5P3 220832 genome.wustl.edu 37 7 152139910 152139910 + RNA SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 152139910 152139910 G T SNP FABP5P3 ENST00000477993 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FABP5P3 HGNC ENSG00000241735 33 4 10.81 42 0 0.00 FADD 8772 genome.wustl.edu 37 11 70049620 70049620 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 70049620 70049620 G T SNP FADD ENST00000301838 human ensembl 70_37 +1 known nonsense c.55 p.E19* 0.280 pfam_DED,superfamily_DEATH-like,smart_DED,pirsf_FADD,pfscan_DED pfam_Death,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Death,pirsf_FADD,pfscan_Death,pfscan_DED - no_errors FADD HGNC ENSG00000168040 47 37 44.05 15 0 0.00 FADS1 3992 genome.wustl.edu 37 11 61570319 61570319 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 61570319 61570319 C G SNP FADS1 ENST00000350997 human ensembl 70_37 -1 known missense c.1408 p.E470Q 0.720 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC ENSG00000149485 43 14 24.56 42 0 0.00 FADS1 3992 genome.wustl.edu 37 11 61574164 61574164 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 61574164 61574164 G T SNP FADS1 ENST00000350997 human ensembl 70_37 -1 known nonsense c.948 p.Y316* 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC ENSG00000149485 25 3 10.71 36 0 0.00 FADS6 283985 genome.wustl.edu 37 17 72878727 72878727 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 72878727 72878727 G A SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known silent c.471 p.L157 1.000 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC ENSG00000172782 38 8 17.39 43 0 0.00 FADS6 283985 genome.wustl.edu 37 17 72889601 72889601 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72889601 72889601 C A SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known missense c.93 p.E31D 0.869 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC ENSG00000172782 7 3 30.00 18 0 0.00 FADS6 283985 genome.wustl.edu 37 17 72889632 72889632 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72889632 72889632 C G SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known missense c.62 p.R21P 0.000 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC ENSG00000172782 12 12 50.00 34 0 0.00 FADS6 283985 genome.wustl.edu 37 17 72889643 72889643 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72889643 72889643 C T SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known silent c.51 p.R17 0.000 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC ENSG00000172782 12 11 47.83 32 0 0.00 FAF1 11124 genome.wustl.edu 37 1 50956315 50956316 + Frame_Shift_Ins INS - - TC TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 50956315 50956316 - TC INS FAF1 ENST00000371778 human ensembl 70_37 -1 known frame_shift_ins c.1598_1597 p.M533fs 1.000:1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 51 17 25.00 53 0 0.00 FAF1 11124 genome.wustl.edu 37 1 51032844 51032844 + Nonsense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 51032844 51032844 G T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known nonsense c.1173 p.C391* 1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 31 4 11.43 19 0 0.00 FAF1 11124 genome.wustl.edu 37 1 51171511 51171511 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 51171511 51171511 C T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known missense c.604 p.E202K 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 57 13 18.57 47 0 0.00 FAF1 11124 genome.wustl.edu 37 1 51204625 51204625 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 51204625 51204625 G T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known missense c.461 p.T154K 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 34 4 10.53 57 0 0.00 FAF2 23197 genome.wustl.edu 37 5 175906255 175906255 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 175906255 175906255 G C SNP FAF2 ENST00000261942 human ensembl 70_37 +1 known missense c.130 p.E44Q 1.000 superfamily_UBA-like pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 111 16 12.60 146 0 0.00 FAH 2184 genome.wustl.edu 37 15 80445464 80445464 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 80445464 80445464 C G SNP FAH ENST00000261755 human ensembl 70_37 +1 known missense c.68 p.S23W 1.000 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 71 35 33.02 81 0 0.00 FAH 2184 genome.wustl.edu 37 15 80452212 80452212 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 80452212 80452212 C T SNP FAH ENST00000261755 human ensembl 70_37 +1 known missense c.307 p.R103W 0.998 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 19 8 29.63 47 0 0.00 FAH 2184 genome.wustl.edu 37 15 80464522 80464522 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 80464522 80464522 G C SNP FAH ENST00000261755 human ensembl 70_37 +1 known missense c.638 p.G213A 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 26 9 25.71 28 0 0.00 FAHD1 81889 genome.wustl.edu 37 16 1877400 1877400 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1877400 1877400 C T SNP FAHD1 ENST00000382666 human ensembl 70_37 +1 known missense c.170 p.S57L 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD1 HGNC ENSG00000180185 75 40 34.48 61 0 0.00 FAHD2A 51011 genome.wustl.edu 37 2 96071357 96071357 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 96071357 96071357 G A SNP FAHD2A ENST00000233379 human ensembl 70_37 +1 known silent c.51 p.Q17 0.925 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 47 28 37.33 108 0 0.00 FAHD2A 51011 genome.wustl.edu 37 2 96076738 96076738 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 96076738 96076738 C G SNP FAHD2A ENST00000233379 human ensembl 70_37 +1 known missense c.649 p.L217V 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 105 23 17.97 163 0 0.00 FAHD2B 151313 genome.wustl.edu 37 2 97747859 97747859 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 97747859 97747859 C T SNP FAHD2B ENST00000443258 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors FAHD2B HGNC ENSG00000144199 13 9 40.91 24 0 0.00 FAHD2B 151313 genome.wustl.edu 37 2 97749843 97749843 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 97749843 97749843 C G SNP FAHD2B ENST00000467092 human ensembl 70_37 -1 known rna NULL NULL 0.232 - - - no_errors FAHD2B HGNC ENSG00000144199 50 18 26.47 68 0 0.00 FAIM 55179 genome.wustl.edu 37 3 138329875 138329875 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138329875 138329875 C G SNP FAIM ENST00000338446 human ensembl 70_37 +1 known missense c.76 p.L26V 0.012 NULL pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 99 34 25.56 50 0 0.00 FAIM 55179 genome.wustl.edu 37 3 138341033 138341033 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 138341033 138341033 G A SNP FAIM ENST00000338446 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 62 24 27.59 37 0 0.00 FAIM2 23017 genome.wustl.edu 37 12 50264376 50264376 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50264376 50264376 C T SNP FAIM2 ENST00000320634 human ensembl 70_37 -1 known missense c.862 p.E288K 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors FAIM2 HGNC ENSG00000135472 20 17 45.95 26 0 0.00 FAIM3 9214 genome.wustl.edu 37 1 207078188 207078188 + RNA SNP A A T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 207078188 207078188 A T SNP FAIM3 ENST00000528654 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAIM3 HGNC ENSG00000162894 18 7 28.00 13 0 0.00 FAIM3 9214 genome.wustl.edu 37 1 207083082 207083082 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 207083082 207083082 C T SNP FAIM3 ENST00000367091 human ensembl 70_37 -1 known missense c.973 p.A325T 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 10 4 28.57 10 0 0.00 FAIM3 9214 genome.wustl.edu 37 1 207086294 207086294 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 207086294 207086294 G A SNP FAIM3 ENST00000367091 human ensembl 70_37 -1 known missense c.467 p.S156F 0.085 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 51 12 19.05 50 0 0.00 FAM101A 144347 genome.wustl.edu 37 12 124798824 124798824 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 124798824 124798824 G T SNP FAM101A ENST00000389727 human ensembl 70_37 +1 known missense c.404 p.S135I 1.000 NULL NULL - no_errors FAM101A HGNC ENSG00000178882 36 16 30.77 30 0 0.00 FAM102A 399665 genome.wustl.edu 37 9 130707744 130707744 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 130707744 130707744 C T SNP FAM102A ENST00000373095 human ensembl 70_37 -1 known missense c.819 p.M273I 0.879 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 35 4 10.26 42 0 0.00 FAM102A 399665 genome.wustl.edu 37 9 130742405 130742405 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130742405 130742405 C G SNP FAM102A ENST00000373095 human ensembl 70_37 -1 known missense c.12 p.L4F 1.000 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 186 41 18.06 240 1 0.41 FAM104A 84923 genome.wustl.edu 37 17 71228291 71228291 + Missense_Mutation SNP G G C TCGA-EK-A2RM-01A-21D-A18J-09 TCGA-EK-A2RM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 801e67c8-c506-410a-bdf0-856a66e974f4 b2a9b6b3-8ae5-4da7-ae2e-02cb5b0390b2 17 71228291 71228291 G C SNP FAM104A ENST00000405159 human ensembl 70_37 -1 known missense c.155 p.S52C 0.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 32 5 13.51 10 0 0.00 FAM105A 54491 genome.wustl.edu 37 5 14601467 14601467 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14601467 14601467 C T SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known silent c.264 p.L88 1.000 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 36 6 14.29 19 0 0.00 FAM105A 54491 genome.wustl.edu 37 5 14602325 14602325 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 14602325 14602325 A G SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known missense c.382 p.K128E 0.997 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 13 13 50.00 37 0 0.00 FAM105A 54491 genome.wustl.edu 37 5 14609093 14609093 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 14609093 14609093 G A SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known silent c.864 p.L288 1.000 prints_FAM105,prints_FAM105A prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 17 4 19.05 20 0 0.00 FAM107A 11170 genome.wustl.edu 37 3 58552947 58552947 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58552947 58552947 C G SNP FAM107A ENST00000360997 human ensembl 70_37 -1 known missense c.315 p.Q105H 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107A HGNC ENSG00000168309 27 27 50.00 41 0 0.00 FAM107A 11170 genome.wustl.edu 37 3 58612841 58612841 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58612841 58612841 C G SNP FAM107A ENST00000497310 human ensembl 70_37 -1 putative rna NULL NULL 0.014 - - - no_errors FAM107A HGNC ENSG00000168309 9 6 40.00 8 0 0.00 FAM107B 83641 genome.wustl.edu 37 10 14709633 14709633 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 14709633 14709633 C A SNP FAM107B ENST00000487335 human ensembl 70_37 -1 known nonsense c.469 p.G157* 1.000 NULL NULL - no_errors FAM107B HGNC ENSG00000065809 32 4 11.11 36 0 0.00 FAM107B 83641 genome.wustl.edu 37 10 14709640 14709640 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 14709640 14709640 C T SNP FAM107B ENST00000181796 human ensembl 70_37 -1 known missense c.462 p.M154I 0.013 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 40 25 38.46 66 0 0.00 FAM107B 83641 genome.wustl.edu 37 10 14816480 14816480 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 14816480 14816480 G A SNP FAM107B ENST00000181796 human ensembl 70_37 -1 known silent c.183 p.G61 0.000 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 51 41 44.57 137 0 0.00 ABHD17B 51104 genome.wustl.edu 37 9 74485111 74485111 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 74485111 74485111 G A SNP FAM108B1 ENST00000377041 human ensembl 70_37 -1 known missense c.535 p.L179F 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108B1 HGNC ENSG00000107362 21 12 36.36 40 0 0.00 ABHD17C 58489 genome.wustl.edu 37 15 80988091 80988091 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 80988091 80988091 C G SNP FAM108C1 ENST00000258884 human ensembl 70_37 +1 known silent c.321 p.V107 0.998 NULL pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108C1 HGNC ENSG00000136379 11 9 45.00 25 0 0.00 FAM109B 150368 genome.wustl.edu 37 22 42473571 42473571 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42473571 42473571 G C SNP FAM109B ENST00000321753 human ensembl 70_37 +1 known missense c.274 p.D92H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 49 37 43.02 74 0 0.00 FAM110B 90362 genome.wustl.edu 37 8 59059031 59059031 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 59059031 59059031 C T SNP FAM110B ENST00000361488 human ensembl 70_37 +1 known missense c.242 p.A81V 0.999 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 66 8 10.81 42 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58919992 58919992 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 58919992 58919992 C A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known nonsense c.851 p.S284* 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 21 27 56.25 38 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58919992 58919992 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 58919992 58919992 C A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known nonsense c.851 p.S284* 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 27 25 48.08 76 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58920144 58920144 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 58920144 58920144 G T SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1003 p.G335W 0.793 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 42 19 31.15 47 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58920313 58920313 + Missense_Mutation SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 58920313 58920313 T C SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1172 p.V391A 0.280 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 62 21 25.30 76 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58920435 58920435 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 58920435 58920435 G C SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1294 p.E432Q 0.998 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 32 12 27.27 41 0 0.00 FAM111A 63901 genome.wustl.edu 37 11 58920959 58920959 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 58920959 58920959 G A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1818 p.M606I 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 49 6 10.91 59 0 0.00 FAM111B 374393 genome.wustl.edu 37 11 58891745 58891745 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 58891745 58891745 G A SNP FAM111B ENST00000343597 human ensembl 70_37 +1 known missense c.175 p.E59K 0.002 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 18 2 10.00 14 0 0.00 FAM111B 374393 genome.wustl.edu 37 11 58892532 58892532 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 58892532 58892532 G A SNP FAM111B ENST00000343597 human ensembl 70_37 +1 known missense c.962 p.R321K 0.000 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 7 5 41.67 17 0 0.00 FAM114A1 92689 genome.wustl.edu 37 4 38916592 38916592 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 38916592 38916592 C T SNP FAM114A1 ENST00000358869 human ensembl 70_37 +1 known silent c.843 p.L281 0.722 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 42 6 12.50 36 0 0.00 FAM114A2 10827 genome.wustl.edu 37 5 153372602 153372602 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 153372602 153372602 G C SNP FAM114A2 ENST00000351797 human ensembl 70_37 -1 known silent c.1452 p.L484 1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 18 12 40.00 20 0 0.00 FAM114A2 10827 genome.wustl.edu 37 5 153377387 153377387 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 153377387 153377387 G C SNP FAM114A2 ENST00000351797 human ensembl 70_37 -1 known missense c.1305 p.F435L 0.996 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 29 9 23.68 108 0 0.00 FAM114A2 10827 genome.wustl.edu 37 5 153414396 153414396 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 153414396 153414396 C T SNP FAM114A2 ENST00000351797 human ensembl 70_37 -1 known missense c.118 p.E40K 0.467 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 77 58 42.96 114 1 0.87 FAM115C 285966 genome.wustl.edu 37 7 143400364 143400364 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 143400364 143400364 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.277 p.V93M 0.000 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 56 9 13.85 55 0 0.00 FAM115C 285966 genome.wustl.edu 37 7 143417134 143417134 + Missense_Mutation SNP A A T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 143417134 143417134 A T SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.982 p.N328Y 0.660 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 67 13 16.05 90 0 0.00 FAM115C 285966 genome.wustl.edu 37 7 143417362 143417362 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 143417362 143417362 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.1210 p.V404I 0.006 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 18 14 43.75 25 0 0.00 FAM115C 285966 genome.wustl.edu 37 7 143417588 143417588 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 143417588 143417588 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.1436 p.R479Q 0.006 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 1 3 75.00 12 0 0.00 FAM117A 81558 genome.wustl.edu 37 17 47795077 47795077 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 47795077 47795077 C T SNP FAM117A ENST00000240364 human ensembl 70_37 -1 known splice_site c.709-1 e6-1 1.000 - - - no_errors FAM117A HGNC ENSG00000121104 52 14 21.21 59 0 0.00 FAM117A 81558 genome.wustl.edu 37 17 47797793 47797793 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 47797793 47797793 G A SNP FAM117A ENST00000240364 human ensembl 70_37 -1 known silent c.468 p.S156 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 30 13 30.23 27 0 0.00 FAM117B 150864 genome.wustl.edu 37 2 203622079 203622079 + Silent SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 203622079 203622079 A G SNP FAM117B ENST00000392238 human ensembl 70_37 +1 known silent c.1248 p.T416 0.130 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 38 21 35.59 58 0 0.00 FAM118B 79607 genome.wustl.edu 37 11 126120401 126120401 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 126120401 126120401 C T SNP FAM118B ENST00000533050 human ensembl 70_37 +1 known missense c.340 p.R114C 1.000 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 13 9 40.91 51 0 0.00 FAM120A 23196 genome.wustl.edu 37 9 96289484 96289484 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 96289484 96289484 C G SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known nonsense c.1550 p.S517* 0.841 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 24 8 25.00 46 0 0.00 FAM120A 23196 genome.wustl.edu 37 9 96320130 96320130 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 96320130 96320130 G C SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known missense c.2590 p.E864Q 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 20 7 25.93 15 0 0.00 FAM120A 23196 genome.wustl.edu 37 9 96320970 96320970 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 9 96320970 96320970 G C SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known missense c.2860 p.D954H 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 42 9 17.65 74 0 0.00 FAM120AOS 158293 genome.wustl.edu 37 9 96212837 96212837 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 96212837 96212837 C A SNP FAM120AOS ENST00000375412 human ensembl 70_37 -1 known missense c.608 p.G203V 0.000 NULL NULL - no_errors FAM120AOS HGNC ENSG00000188938 36 10 21.74 79 0 0.00 FAM120B 84498 genome.wustl.edu 37 6 170626789 170626789 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170626789 170626789 G A SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known missense c.380 p.R127Q 0.999 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 23 7 23.33 37 0 0.00 FAM120B 84498 genome.wustl.edu 37 6 170627030 170627030 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 170627030 170627030 C T SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known silent c.621 p.I207 0.978 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 9 25 73.53 59 0 0.00 FAM120B 84498 genome.wustl.edu 37 6 170627053 170627053 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 170627053 170627053 C A SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known nonsense c.644 p.S215* 1.000 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 23 7 23.33 24 0 0.00 FAM120C 54954 genome.wustl.edu 37 X 54161359 54161359 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 54161359 54161359 G A SNP FAM120C ENST00000375180 human ensembl 70_37 -1 known silent c.1521 p.P507 0.989 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 15 9 37.50 42 0 0.00 FAM122A 116224 genome.wustl.edu 37 9 71395260 71395260 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 71395260 71395260 G A SNP FAM122A ENST00000394264 human ensembl 70_37 +1 known silent c.180 p.R60 0.995 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 6 5 45.45 9 0 0.00 FAM122B 159090 genome.wustl.edu 37 X 133922794 133922794 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 133922794 133922794 G A SNP FAM122B ENST00000343004 human ensembl 70_37 -1 known missense c.401 p.S134F 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 67 14 17.28 75 0 0.00 FAM122B 159090 genome.wustl.edu 37 X 133923621 133923621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133923621 133923621 G C SNP FAM122B ENST00000343004 human ensembl 70_37 -1 known missense c.223 p.Q75E 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 78 14 15.22 95 0 0.00 FAM122B 159090 genome.wustl.edu 37 X 133931210 133931210 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133931210 133931210 C T SNP FAM122B ENST00000467413 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM122B HGNC ENSG00000156504 20 8 28.57 21 0 0.00 FAM122C 159091 genome.wustl.edu 37 X 133941542 133941542 + RNA SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 133941542 133941542 C A SNP FAM122C ENST00000470657 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM122C HGNC ENSG00000156500 74 21 22.11 92 0 0.00 FAM122C 159091 genome.wustl.edu 37 X 133941588 133941588 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 133941588 133941588 G A SNP FAM122C ENST00000414371 human ensembl 70_37 +1 known missense c.68 p.R23Q 0.000 NULL NULL - no_errors FAM122C HGNC ENSG00000156500 49 19 27.94 59 0 0.00 AMER2 219287 genome.wustl.edu 37 13 25744029 25744029 + Nonsense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 13 25744029 25744029 C A SNP FAM123A ENST00000515384 human ensembl 70_37 -1 known nonsense c.1729 p.E577* 0.996 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123A HGNC ENSG00000165566 30 4 11.76 26 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63409824 63409824 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 63409824 63409824 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.3343 p.E1115K 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 95 22 18.80 144 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63410667 63410667 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 63410667 63410667 G T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.2500 p.L834I 0.991 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 45 7 13.21 48 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63412416 63412416 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 63412416 63412416 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.751 p.E251K 0.022 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 37 23 38.33 67 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63412870 63412870 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 63412870 63412870 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known silent c.297 p.L99 0.907 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 43 8 15.69 41 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63412951 63412951 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 63412951 63412951 G T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.216 p.F72L 0.997 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 17 15 46.88 66 0 0.00 AMER1 139285 genome.wustl.edu 37 X 63412990 63412990 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 63412990 63412990 G C SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known silent c.177 p.L59 0.613 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 125 29 18.71 151 0 0.00 AMER3 205147 genome.wustl.edu 37 2 131520159 131520159 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131520159 131520159 G A SNP FAM123C ENST00000321420 human ensembl 70_37 +1 known missense c.514 p.E172K 0.783 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC ENSG00000178171 14 9 39.13 26 0 0.00 AMER3 205147 genome.wustl.edu 37 2 131521047 131521047 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 131521047 131521047 G A SNP FAM123C ENST00000321420 human ensembl 70_37 +1 known missense c.1402 p.E468K 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC ENSG00000178171 25 21 45.65 54 0 0.00 FAM124A 220108 genome.wustl.edu 37 13 51826091 51826091 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 51826091 51826091 G C SNP FAM124A ENST00000280057 human ensembl 70_37 +1 known missense c.696 p.R232S 0.134 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 28 24 46.15 55 0 0.00 FAM124B 79843 genome.wustl.edu 37 2 225244417 225244417 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 225244417 225244417 C A SNP FAM124B ENST00000409685 human ensembl 70_37 -1 known missense c.1241 p.R414I 0.769 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 13 3 18.75 23 0 0.00 FAM124B 79843 genome.wustl.edu 37 2 225244772 225244772 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 225244772 225244772 C G SNP FAM124B ENST00000409685 human ensembl 70_37 -1 known missense c.886 p.E296Q 0.018 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 23 6 20.69 31 0 0.00 MVB12B 89853 genome.wustl.edu 37 9 129102821 129102821 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 129102821 129102821 C G SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known nonsense c.116 p.S39* 0.995 NULL pfam_FAM125 - no_errors FAM125B HGNC ENSG00000196814 84 14 14.29 124 0 0.00 MVB12B 89853 genome.wustl.edu 37 9 129157918 129157918 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 129157918 129157918 C G SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known missense c.604 p.Q202E 1.000 pfam_FAM125 pfam_FAM125 - no_errors FAM125B HGNC ENSG00000196814 45 30 40.00 63 0 0.00 MVB12B 89853 genome.wustl.edu 37 9 129184194 129184194 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 129184194 129184194 G A SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known missense c.724 p.E242K 1.000 pfam_FAM125 pfam_FAM125 - no_errors FAM125B HGNC ENSG00000196814 8 6 42.86 22 0 0.00 MVB12B 89853 genome.wustl.edu 37 9 129267933 129267934 + RNA INS - - TG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 9 129267933 129267934 - TG INS FAM125B ENST00000485886 human ensembl 70_37 +1 known rna NULL NULL 0.067:0.094 - - - no_errors FAM125B HGNC ENSG00000196814 50 14 21.88 20 0 0.00 MVB12B 89853 genome.wustl.edu 37 9 129269251 129269251 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 129269251 129269251 G T SNP FAM125B ENST00000485886 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM125B HGNC ENSG00000196814 51 25 32.89 81 0 0.00 FAM126A 84668 genome.wustl.edu 37 7 22985680 22985680 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 22985680 22985680 G C SNP FAM126A ENST00000432176 human ensembl 70_37 -1 known nonsense c.1094 p.S365* 1.000 NULL pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 28 20 41.67 37 0 0.00 FAM126B 285172 genome.wustl.edu 37 2 201846020 201846020 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 201846020 201846020 G C SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known missense c.1566 p.F522L 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 40 7 14.89 31 0 0.00 FAM126B 285172 genome.wustl.edu 37 2 201846253 201846253 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 201846253 201846253 G A SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known silent c.1333 p.L445 0.402 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 15 8 34.78 32 0 0.00 FAM126B 285172 genome.wustl.edu 37 2 201846414 201846414 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 201846414 201846414 G A SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known missense c.1172 p.S391F 0.616 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 62 28 31.11 87 0 0.00 FAM127A 8933 genome.wustl.edu 37 X 134166458 134166458 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 134166458 134166458 G A SNP FAM127A ENST00000257013 human ensembl 70_37 +1 novel silent c.45 p.P15 0.002 NULL NULL - no_errors FAM127A HGNC ENSG00000134590 51 25 32.89 76 0 0.00 FAM129A 116496 genome.wustl.edu 37 1 184764121 184764121 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 184764121 184764121 G A SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.2777 p.S926L 0.196 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 227 37 14.02 184 0 0.00 FAM129A 116496 genome.wustl.edu 37 1 184764821 184764821 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 184764821 184764821 C T SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.2077 p.E693K 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 25 3 10.71 41 0 0.00 FAM129A 116496 genome.wustl.edu 37 1 184764870 184764870 + Silent SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 184764870 184764870 G C SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known silent c.2028 p.L676 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 53 8 13.11 35 0 0.00 FAM129A 116496 genome.wustl.edu 37 1 184765013 184765013 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 184765013 184765013 C T SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.1885 p.E629K 0.020 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 23 6 20.69 33 0 0.00 FAM129C 199786 genome.wustl.edu 37 19 17664206 17664206 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 17664206 17664206 C T SNP FAM129C ENST00000335393 human ensembl 70_37 +1 known missense c.1928 p.A643V 0.057 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 38 5 11.63 71 0 0.00 FAM131A 131408 genome.wustl.edu 37 3 184055357 184055357 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184055357 184055357 G T SNP FAM131A ENST00000497070 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM131A HGNC ENSG00000175182 51 37 42.05 90 0 0.00 FAM131A 131408 genome.wustl.edu 37 3 184056262 184056262 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 184056262 184056262 G A SNP FAM131A ENST00000383847 human ensembl 70_37 +1 known missense c.176 p.R59Q 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 44 15 25.42 52 0 0.00 FAM131A 131408 genome.wustl.edu 37 3 184059910 184059910 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 184059910 184059910 C G SNP FAM131A ENST00000383847 human ensembl 70_37 +1 known missense c.382 p.R128G 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 78 18 18.75 55 0 0.00 FAM131C 348487 genome.wustl.edu 37 1 16384780 16384780 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16384780 16384780 G A SNP FAM131C ENST00000494078 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM131C HGNC ENSG00000185519 17 16 48.48 25 0 0.00 FAM131C 348487 genome.wustl.edu 37 1 16384941 16384941 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 16384941 16384941 G C SNP FAM131C ENST00000375662 human ensembl 70_37 -1 known missense c.834 p.F278L 1.000 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 50 12 19.35 38 0 0.00 FAM132A 388581 genome.wustl.edu 37 1 1177985 1177985 + Silent SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 1177985 1177985 C T SNP FAM132A ENST00000330388 human ensembl 70_37 -1 known silent c.852 p.G284 0.979 superfamily_Tumour_necrosis_fac-like superfamily_Tumour_necrosis_fac-like - no_errors FAM132A HGNC ENSG00000184163 77 43 35.83 157 0 0.00 FAM133A 286499 genome.wustl.edu 37 X 92964553 92964553 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 92964553 92964553 G T SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.135 p.K45N 1.000 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 18 8 30.77 48 0 0.00 FAM133A 286499 genome.wustl.edu 37 X 92964579 92964579 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 92964579 92964579 G A SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.161 p.G54D 1.000 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 20 27 57.45 32 0 0.00 FAM133A 286499 genome.wustl.edu 37 X 92965019 92965019 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 92965019 92965019 G A SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.601 p.E201K 0.996 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 38 10 20.83 31 0 0.00 FAM133B 257415 genome.wustl.edu 37 7 92206487 92206487 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 92206487 92206487 C T SNP FAM133B ENST00000445716 human ensembl 70_37 -1 known missense c.395 p.R132K 1.000 NULL NULL - no_errors FAM133B HGNC ENSG00000234545 18 21 53.85 31 0 0.00 FAM134A 79137 genome.wustl.edu 37 2 220046965 220046965 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 220046965 220046965 G T SNP FAM134A ENST00000430297 human ensembl 70_37 +1 known missense c.1246 p.G416W 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 21 26 55.32 59 0 0.00 FAM134A 79137 genome.wustl.edu 37 2 220047220 220047220 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 220047220 220047220 G C SNP FAM134A ENST00000430297 human ensembl 70_37 +1 known missense c.1501 p.E501Q 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 13 14 51.85 12 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139149461 139149461 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 139149461 139149461 T C SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.3944 p.Q1315R 1.000 pfam_DUF676_lipase-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 6 3 33.33 31 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139160891 139160891 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 139160891 139160891 T A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.3320 p.K1107M 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 43 8 15.69 49 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139163664 139163664 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139163664 139163664 C T SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known silent c.3054 p.E1018 0.681 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 27 9 25.00 41 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139163857 139163857 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 8 139163857 139163857 T G SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.2861 p.Q954P 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 11 8 42.11 19 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139164862 139164862 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 139164862 139164862 C T SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.1856 p.G619E 0.001 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 51 10 16.39 81 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139165096 139165096 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 139165096 139165096 G A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.1622 p.P541L 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 18 6 25.00 35 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139190862 139190862 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 139190862 139190862 C G SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.945 p.M315I 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 55 30 35.29 75 0 0.00 FAM135B 51059 genome.wustl.edu 37 8 139380195 139380195 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139380195 139380195 G A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.32 p.S11L 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 16 9 36.00 42 0 0.00 FAM136A 84908 genome.wustl.edu 37 2 70528713 70528713 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 70528713 70528713 C T SNP FAM136A ENST00000450256 human ensembl 70_37 -1 novel missense c.110 p.R37K 0.000 NULL NULL - no_errors FAM136A HGNC ENSG00000035141 16 6 27.27 19 0 0.00 FAM136A 84908 genome.wustl.edu 37 2 70528853 70528853 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 70528853 70528853 C G SNP FAM136A ENST00000430566 human ensembl 70_37 -1 novel silent c.291 p.A97 0.000 NULL pfam_DUF842_euk - no_errors FAM136A HGNC ENSG00000035141 4 5 55.56 16 0 0.00 FAM138B 654412 genome.wustl.edu 37 2 114335700 114335700 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114335700 114335700 C T SNP FAM138B ENST00000432583 human ensembl 70_37 +1 known rna NULL NULL 0.089 - - - no_errors FAM138B HGNC ENSG00000226516 91 79 45.93 116 0 0.00 FAM138B 654412 genome.wustl.edu 37 2 114336277 114336277 + RNA SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 114336277 114336277 C A SNP FAM138B ENST00000432583 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors FAM138B HGNC ENSG00000226516 9 8 47.06 16 0 0.00 FAM138D 677784 genome.wustl.edu 37 12 148078 148078 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 148078 148078 G A SNP FAM138D ENST00000320165 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138D HGNC ENSG00000206114 18 5 21.74 20 0 0.00 FAM138D 677784 genome.wustl.edu 37 12 148731 148731 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 148731 148731 C T SNP FAM138D ENST00000320165 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors FAM138D HGNC ENSG00000206114 58 17 22.67 102 0 0.00 FAM13A 10144 genome.wustl.edu 37 4 89679920 89679920 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89679920 89679920 C T SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.1711 p.E571K 0.960 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 36 17 32.08 49 0 0.00 FAM13A 10144 genome.wustl.edu 37 4 89702330 89702330 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89702330 89702330 G A SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known nonsense c.1444 p.Q482* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 30 12 28.57 66 0 0.00 FAM13A 10144 genome.wustl.edu 37 4 89772307 89772307 + Missense_Mutation SNP T T C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 89772307 89772307 T C SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.871 p.I291V 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 33 9 21.43 41 0 0.00 FAM13A 10144 genome.wustl.edu 37 4 89941646 89941646 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 89941646 89941646 G C SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known nonsense c.392 p.S131* 0.017 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 46 15 24.59 66 0 0.00 FAM13A 10144 genome.wustl.edu 37 4 89950737 89950737 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 89950737 89950737 C T SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.91 p.E31K 0.007 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 17 3 15.00 29 0 0.00 FAM13B 51306 genome.wustl.edu 37 5 137278833 137278833 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137278833 137278833 C T SNP FAM13B ENST00000033079 human ensembl 70_37 -1 known missense c.2347 p.E783K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 32 13 28.26 50 0 0.00 FAM13B 51306 genome.wustl.edu 37 5 137292184 137292184 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 137292184 137292184 G A SNP FAM13B ENST00000425075 human ensembl 70_37 -1 known silent c.1135 p.L379 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 33 15 31.25 26 0 0.00 FAM13B 51306 genome.wustl.edu 37 5 137323214 137323214 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 5 137323214 137323214 G T SNP FAM13B ENST00000033079 human ensembl 70_37 -1 known missense c.982 p.Q328K 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 25 4 13.79 35 0 0.00 FAM13B 51306 genome.wustl.edu 37 5 137323274 137323274 + Nonsense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 137323274 137323274 C A SNP FAM13B ENST00000033079 human ensembl 70_37 -1 known nonsense c.922 p.E308* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 25 12 32.43 30 0 0.00 FAM13C 220965 genome.wustl.edu 37 10 61028333 61028333 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 61028333 61028333 C G SNP FAM13C ENST00000373868 human ensembl 70_37 -1 known missense c.922 p.E308Q 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 13 10 43.48 34 0 0.00 FAM13C 220965 genome.wustl.edu 37 10 61043192 61043192 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61043192 61043192 C G SNP FAM13C ENST00000373868 human ensembl 70_37 -1 known missense c.523 p.V175L 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 28 17 37.78 30 0 0.00 FAM149A 25854 genome.wustl.edu 37 4 187073141 187073141 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187073141 187073141 C G SNP FAM149A ENST00000356371 human ensembl 70_37 +1 known missense c.901 p.Q301E 0.993 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 28 7 20.00 56 0 0.00 FAM149B1 317662 genome.wustl.edu 37 10 74992909 74992909 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 74992909 74992909 G A SNP FAM149B1 ENST00000242505 human ensembl 70_37 +1 known missense c.1340 p.R447K 1.000 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 26 23 46.94 53 0 0.00 FAM149B1 317662 genome.wustl.edu 37 10 74994761 74994761 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74994761 74994761 G T SNP FAM149B1 ENST00000468462 human ensembl 70_37 +1 known rna NULL NULL 0.520 - - - no_errors FAM149B1 HGNC ENSG00000138286 30 17 36.17 25 0 0.00 FAM149B1 317662 genome.wustl.edu 37 10 74999103 74999103 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 74999103 74999103 G C SNP FAM149B1 ENST00000242505 human ensembl 70_37 +1 known missense c.1636 p.E546Q 0.696 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 61 14 18.67 76 0 0.00 FAM150A 389658 genome.wustl.edu 37 8 53447151 53447151 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 53447151 53447151 T C SNP FAM150A ENST00000523939 human ensembl 70_37 -1 novel silent c.335 p.*112 0.001 NULL NULL - no_errors FAM150A HGNC ENSG00000196711 94 22 18.97 142 1 0.70 FAM151A 338094 genome.wustl.edu 37 1 55075436 55075436 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 55075436 55075436 G C SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known silent c.1263 p.L421 0.999 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 48 7 12.73 73 0 0.00 FAM151A 338094 genome.wustl.edu 37 1 55075447 55075447 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 55075447 55075447 G C SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known missense c.1252 p.P418A 0.864 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 42 9 17.65 68 0 0.00 FAM151A 338094 genome.wustl.edu 37 1 55078239 55078239 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 55078239 55078239 C G SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known missense c.720 p.Q240H 1.000 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 39 12 23.53 51 0 0.00 FAM151A 338094 genome.wustl.edu 37 1 55081757 55081757 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 55081757 55081757 G - DEL FAM151A ENST00000302250 human ensembl 70_37 -1 known frame_shift_del c.351 p.T118fs 0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 43 13 23.21 70 0 0.00 FAM151B 167555 genome.wustl.edu 37 5 79809458 79809458 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 79809458 79809458 C G SNP FAM151B ENST00000282226 human ensembl 70_37 +1 known missense c.187 p.P63A 0.546 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 98 17 14.78 86 0 0.00 FAM151B 167555 genome.wustl.edu 37 5 79809527 79809527 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 79809527 79809527 C G SNP FAM151B ENST00000282226 human ensembl 70_37 +1 known missense c.256 p.L86V 0.808 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 39 15 27.78 34 0 0.00 FAM153A 285596 genome.wustl.edu 37 5 177151329 177151329 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 177151329 177151329 T G SNP FAM153A ENST00000360669 human ensembl 70_37 -1 known missense c.806 p.E269A 0.000 NULL prints_FAM153 - no_errors FAM153A HGNC ENSG00000170074 21 5 19.23 31 0 0.00 FAM153A 285596 genome.wustl.edu 37 5 177180192 177180192 + Missense_Mutation SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 177180192 177180192 T G SNP FAM153A ENST00000503845 human ensembl 70_37 -1 known missense c.16 p.S6R 0.001 NULL NULL - no_errors FAM153A HGNC ENSG00000170074 124 28 18.42 173 0 0.00 FAM153B 202134 genome.wustl.edu 37 5 175520229 175520229 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 175520229 175520229 G A SNP FAM153B ENST00000253490 human ensembl 70_37 +1 known silent c.291 p.R97 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 52 13 20.00 105 0 0.00 FAM153B 202134 genome.wustl.edu 37 5 175528087 175528087 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 175528087 175528087 G C SNP FAM153B ENST00000253490 human ensembl 70_37 +1 known missense c.600 p.Q200H 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 153 21 12.07 225 0 0.00 FAM153B 202134 genome.wustl.edu 37 5 175558737 175558737 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 175558737 175558737 G A SNP FAM153B ENST00000508356 human ensembl 70_37 +1 known rna NULL NULL 0.257 - - - no_errors FAM153B HGNC ENSG00000182230 55 54 49.54 79 0 0.00 FAM153C 653316 genome.wustl.edu 37 5 177480916 177480916 + RNA SNP T T G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 177480916 177480916 T G SNP FAM153C ENST00000506096 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors FAM153C HGNC ENSG00000204677 7 8 53.33 9 0 0.00 FAM154A 158297 genome.wustl.edu 37 9 18941665 18941665 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 9 18941665 18941665 C T SNP FAM154A ENST00000380534 human ensembl 70_37 -1 known missense c.391 p.D131N 0.049 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 78 43 35.25 108 0 0.00 FAM154B 283726 genome.wustl.edu 37 15 82564165 82564165 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 82564165 82564165 G A SNP FAM154B ENST00000565432 human ensembl 70_37 +1 putative silent c.314 p.*105 0.000 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 20 15 42.86 60 0 0.00 FAM154B 283726 genome.wustl.edu 37 15 82574786 82574786 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 82574786 82574786 G C SNP FAM154B ENST00000339465 human ensembl 70_37 +1 known missense c.580 p.E194Q 0.517 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 63 17 21.25 62 0 0.00 FAM154B 283726 genome.wustl.edu 37 15 82575267 82575267 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 82575267 82575267 C T SNP FAM154B ENST00000339465 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.900 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 31 13 29.55 53 0 0.00 FAM155A 728215 genome.wustl.edu 37 13 108518440 108518440 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 108518440 108518440 C A SNP FAM155A ENST00000375915 human ensembl 70_37 -1 known nonsense c.505 p.E169* 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 15 5 25.00 41 0 0.00 FAM155B 27112 genome.wustl.edu 37 X 68749583 68749583 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 68749583 68749583 C T SNP FAM155B ENST00000252338 human ensembl 70_37 +1 known silent c.1203 p.Y401 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 74 37 33.33 147 0 0.00 FAM155B 27112 genome.wustl.edu 37 X 68749616 68749616 + Missense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 68749616 68749616 C A SNP FAM155B ENST00000252338 human ensembl 70_37 +1 known missense c.1236 p.S412R 0.865 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 63 21 25.00 62 0 0.00 FAM157B 100132403 genome.wustl.edu 37 9 141107563 141107563 + RNA SNP A A T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 9 141107563 141107563 A T SNP FAM157B ENST00000446912 human ensembl 70_37 +1 known rna NULL NULL 0.171 - - - no_errors FAM157B HGNC ENSG00000233013 41 5 10.87 38 0 0.00 FAM157B 100132403 genome.wustl.edu 37 9 141107619 141107619 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 141107619 141107619 C G SNP FAM157B ENST00000446912 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FAM157B HGNC ENSG00000233013 21 30 56.60 29 0 0.00 FAM157C 100996541 genome.wustl.edu 37 16 90168697 90168697 + RNA DEL A A - TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 90168697 90168697 A - DEL FAM157C ENST00000563357 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors FAM157C HGNC ENSG00000260528 87 29 25.00 56 0 0.00 FAM157C 100996541 genome.wustl.edu 37 16 90185214 90185214 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 90185214 90185214 G C SNP FAM157C ENST00000566043 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors FAM157C HGNC ENSG00000260528 11 8 42.11 12 0 0.00 FAM157C 100996541 genome.wustl.edu 37 16 90244211 90244211 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 90244211 90244211 A C SNP FAM157C ENST00000570230 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors FAM157C HGNC ENSG00000260528 33 5 13.16 72 0 0.00 FAM159B 100132916 genome.wustl.edu 37 5 63991426 63991426 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 63991426 63991426 C A SNP FAM159B ENST00000389074 human ensembl 70_37 +1 known missense c.284 p.T95K 0.989 NULL NULL - no_errors FAM159B HGNC ENSG00000145642 62 8 11.43 79 0 0.00 FAM160A1 729830 genome.wustl.edu 37 4 152499189 152499189 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 152499189 152499189 G T SNP FAM160A1 ENST00000435205 human ensembl 70_37 +1 known missense c.693 p.M231I 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 18 4 18.18 12 0 0.00 FAM160A2 84067 genome.wustl.edu 37 11 6232577 6232577 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 6232577 6232577 G C SNP FAM160A2 ENST00000529360 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors FAM160A2 HGNC ENSG00000051009 14 10 41.67 29 0 0.00 FAM160A2 84067 genome.wustl.edu 37 11 6239851 6239851 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 6239851 6239851 C G SNP FAM160A2 ENST00000265978 human ensembl 70_37 -1 known missense c.1414 p.E472Q 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 23 13 36.11 24 0 0.00 FAM160A2 84067 genome.wustl.edu 37 11 6239972 6239972 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 11 6239972 6239972 G A SNP FAM160A2 ENST00000265978 human ensembl 70_37 -1 known silent c.1293 p.H431 0.936 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 7 10 58.82 31 0 0.00 FAM160B1 57700 genome.wustl.edu 37 10 116603586 116603586 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 116603586 116603586 G C SNP FAM160B1 ENST00000369248 human ensembl 70_37 +1 known missense c.903 p.Q301H 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 45 19 29.69 42 0 0.00 FAM160B2 64760 genome.wustl.edu 37 8 21957333 21957333 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 21957333 21957333 G A SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known missense c.1270 p.E424K 0.926 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 19 24 55.81 51 0 0.00 FAM160B2 64760 genome.wustl.edu 37 8 21958132 21958132 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 21958132 21958132 G A SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known missense c.1369 p.E457K 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 44 18 29.03 60 0 0.00 FAM160B2 64760 genome.wustl.edu 37 8 21958969 21958969 + Silent SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 21958969 21958969 C G SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known silent c.1635 p.P545 0.032 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 69 21 23.33 125 0 0.00 FAM161B 145483 genome.wustl.edu 37 14 74409175 74409175 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74409175 74409175 C G SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.1358 p.R453T 0.012 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 23 9 28.12 32 0 0.00 FAM161B 145483 genome.wustl.edu 37 14 74409178 74409178 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 74409178 74409178 C A SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.1355 p.R452I 0.012 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 32 22 40.74 42 0 0.00 FAM161B 145483 genome.wustl.edu 37 14 74411422 74411422 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 74411422 74411422 C T SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.730 p.E244K 0.997 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 63 30 32.26 55 0 0.00 FAM162B 221303 genome.wustl.edu 37 6 117083213 117083213 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 117083213 117083213 C T SNP FAM162B ENST00000368557 human ensembl 70_37 -1 known missense c.317 p.R106Q 0.991 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 64 29 31.18 57 0 0.00 FAM162B 221303 genome.wustl.edu 37 6 117086414 117086414 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 117086414 117086414 C G SNP FAM162B ENST00000368557 human ensembl 70_37 -1 known missense c.177 p.E59D 0.007 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 21 19 47.50 58 0 0.00 FAM163A 148753 genome.wustl.edu 37 1 179782210 179782210 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179782210 179782210 G C SNP FAM163A ENST00000341785 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors FAM163A HGNC ENSG00000143340 46 27 36.99 53 0 0.00 FAM163A 148753 genome.wustl.edu 37 1 179783311 179783311 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 1 179783311 179783311 G T SNP FAM163A ENST00000341785 human ensembl 70_37 +1 known missense c.491 p.S164I 1.000 NULL NULL - no_errors FAM163A HGNC ENSG00000143340 7 3 30.00 32 0 0.00 SMIM11 54065 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 21 35774492 35774492 T - DEL FAM165B ENST00000481710 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM165B HGNC ENSG00000205670 24 3 11.11 25 0 0.00 SMIM11 54065 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 21 35774492 35774492 T - DEL FAM165B ENST00000481710 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM165B HGNC ENSG00000205670 21 5 19.23 29 0 0.00 FAM166B 730112 genome.wustl.edu 37 9 35562970 35562970 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 35562970 35562970 G T SNP FAM166B ENST00000447837 human ensembl 70_37 -1 known missense c.394 p.L132I 0.006 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 15 10 40.00 39 0 0.00 FAM168A 23201 genome.wustl.edu 37 11 73122475 73122475 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 73122475 73122475 G C SNP FAM168A ENST00000064778 human ensembl 70_37 -1 known missense c.411 p.I137M 1.000 NULL NULL - no_errors FAM168A HGNC ENSG00000054965 25 13 34.21 37 0 0.00 FAM168B 130074 genome.wustl.edu 37 2 131813260 131813260 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 131813260 131813260 G C SNP FAM168B ENST00000389915 human ensembl 70_37 -1 known missense c.163 p.P55A 1.000 NULL NULL - no_errors FAM168B HGNC ENSG00000152102 30 25 45.45 54 0 0.00 FAM168B 130074 genome.wustl.edu 37 2 131840217 131840217 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131840217 131840217 C T SNP FAM168B ENST00000389915 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors FAM168B HGNC ENSG00000152102 53 17 24.29 82 0 0.00 FAM169B 283777 genome.wustl.edu 37 15 99023833 99023833 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99023833 99023833 C T SNP FAM169B ENST00000332908 human ensembl 70_37 -1 known missense c.180 p.M60I 0.939 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 36 14 28.00 26 0 0.00 FAM170A 340069 genome.wustl.edu 37 5 118968449 118968449 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118968449 118968449 C T SNP FAM170A ENST00000515256 human ensembl 70_37 +1 known missense c.77 p.S26L 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 37 35 48.61 57 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15254946 15254946 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 15254946 15254946 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.2641 p.E881K 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 38 11 22.45 38 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15255395 15255395 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 15255395 15255395 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.2192 p.G731E 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 145 22 13.17 182 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15255565 15255565 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 15255565 15255565 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.2022 p.N674 0.932 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 21 18 46.15 48 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15255634 15255634 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 15255634 15255634 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.1953 p.A651 0.472 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 24 12 33.33 37 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15255945 15255945 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 15255945 15255945 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.1642 p.L548F 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 168 61 26.41 257 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15290684 15290684 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 15290684 15290684 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.708 p.L236 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 34 5 12.82 43 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15290720 15290720 + Silent SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 15290720 15290720 G T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.672 p.I224 0.996 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 30 4 11.76 40 0 0.00 FAM171A1 221061 genome.wustl.edu 37 10 15296873 15296873 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 15296873 15296873 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.424 p.R142W 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 23 9 28.12 56 0 0.00 FAM171A2 284069 genome.wustl.edu 37 17 42432383 42432383 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 42432383 42432383 G A SNP FAM171A2 ENST00000293443 human ensembl 70_37 -1 known missense c.1199 p.S400L 0.968 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC ENSG00000161682 31 14 31.11 63 0 0.00 FAM171A2 284069 genome.wustl.edu 37 17 42432488 42432488 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42432488 42432488 C G SNP FAM171A2 ENST00000293443 human ensembl 70_37 -1 known missense c.1094 p.R365P 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC ENSG00000161682 93 31 25.00 101 0 0.00 FAM171B 165215 genome.wustl.edu 37 2 187559047 187559048 + In_Frame_Ins INS - - CAA TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 187559047 187559048 - CAA INS FAM171B ENST00000304698 human ensembl 70_37 +1 known in_frame_ins c.147_148 p.53in_frame_insQ 0.634:0.592 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 59 9 13.24 88 0 0.00 FAM172A 83989 genome.wustl.edu 37 5 93217310 93217310 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 93217310 93217310 C G SNP FAM172A ENST00000395965 human ensembl 70_37 -1 known missense c.652 p.D218H 1.000 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 14 24 63.16 37 0 0.00 FAM172A 83989 genome.wustl.edu 37 5 93217320 93217320 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 93217320 93217320 C A SNP FAM172A ENST00000395965 human ensembl 70_37 -1 known missense c.642 p.Q214H 0.999 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 35 4 10.26 37 0 0.00 FAM173B 134145 genome.wustl.edu 37 5 10239358 10239358 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 10239358 10239358 G A SNP FAM173B ENST00000511437 human ensembl 70_37 -1 known missense c.127 p.L43F 0.056 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 30 7 18.92 45 0 0.00 FAM174A 345757 genome.wustl.edu 37 5 99871472 99871472 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 99871472 99871472 G A SNP FAM174A ENST00000312637 human ensembl 70_37 +1 known missense c.238 p.E80K 0.009 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 27 34 55.74 44 0 0.00 FAM174B 400451 genome.wustl.edu 37 15 93162638 93162638 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 93162638 93162638 G A SNP FAM174B ENST00000555064 human ensembl 70_37 -1 putative missense c.104 p.A35V 0.019 NULL NULL - no_errors FAM174B HGNC ENSG00000185442 28 14 33.33 35 0 0.00 FAM174B 400451 genome.wustl.edu 37 15 93277233 93277233 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 93277233 93277233 C T SNP FAM174B ENST00000556424 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FAM174B HGNC ENSG00000185442 36 23 38.98 44 0 0.00 FAM175A 84142 genome.wustl.edu 37 4 84384051 84384051 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84384051 84384051 C G SNP FAM175A ENST00000321945 human ensembl 70_37 -1 known missense c.801 p.E267D 0.992 NULL prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC ENSG00000163322 24 4 14.29 24 0 0.00 FAM177A1 283635 genome.wustl.edu 37 14 35546373 35546373 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 35546373 35546373 T C SNP FAM177A1 ENST00000280987 human ensembl 70_37 +1 known silent c.357 p.G119 0.981 NULL NULL - no_errors FAM177A1 HGNC ENSG00000151327 36 4 10.00 47 0 0.00 FAM177A1 283635 genome.wustl.edu 37 14 35548163 35548163 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 35548163 35548163 C G SNP FAM177A1 ENST00000280987 human ensembl 70_37 +1 known missense c.437 p.S146C 1.000 NULL NULL - no_errors FAM177A1 HGNC ENSG00000151327 40 5 11.11 40 0 0.00 FAM178A 55719 genome.wustl.edu 37 10 102675791 102675791 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 102675791 102675791 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known nonsense c.176 p.S59* 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 28 20 41.67 46 0 0.00 FAM178A 55719 genome.wustl.edu 37 10 102684014 102684014 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 102684014 102684014 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1256 p.S419C 0.990 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 20 3 13.04 17 0 0.00 FAM178A 55719 genome.wustl.edu 37 10 102684122 102684122 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 102684122 102684122 A G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1364 p.N455S 0.956 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 29 9 23.68 34 0 0.00 FAM178A 55719 genome.wustl.edu 37 10 102684212 102684212 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102684212 102684212 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1454 p.S485C 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 16 10 38.46 16 0 0.00 FAM178A 55719 genome.wustl.edu 37 10 102685753 102685753 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102685753 102685753 G A SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known silent c.2019 p.V673 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 49 28 36.36 55 0 0.00 FAM178B 51252 genome.wustl.edu 37 2 97637691 97637691 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 97637691 97637691 C G SNP FAM178B ENST00000417561 human ensembl 70_37 -1 known missense c.955 p.E319Q 0.000 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 62 22 26.19 71 0 0.00 FAM178B 51252 genome.wustl.edu 37 2 97637863 97637863 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 97637863 97637863 C T SNP FAM178B ENST00000417561 human ensembl 70_37 -1 known silent c.783 p.P261 0.589 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 37 9 19.57 38 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29225407 29225407 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 29225407 29225407 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.433 p.L145V 0.691 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 30 5 14.29 49 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29225481 29225481 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 29225481 29225481 G C SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known silent c.507 p.L169 0.508 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 26 6 18.18 32 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29234362 29234362 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 29234362 29234362 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.872 p.S291C 0.996 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 80 28 25.93 97 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29245120 29245120 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 29245120 29245120 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1457 p.S486W 0.997 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 54 9 14.29 72 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29247030 29247030 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 29247030 29247030 C T SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1643 p.S548F 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 16 5 23.81 33 0 0.00 FAM179A 165186 genome.wustl.edu 37 2 29247043 29247043 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 29247043 29247043 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1656 p.I552M 0.998 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 14 11 44.00 25 0 0.00 FAM179B 23116 genome.wustl.edu 37 14 45432171 45432171 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 45432171 45432171 C T SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known nonsense c.547 p.Q183* 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 68 9 11.69 53 0 0.00 FAM179B 23116 genome.wustl.edu 37 14 45432442 45432442 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 45432442 45432442 C G SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.818 p.S273C 0.985 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 31 8 20.51 51 0 0.00 FAM179B 23116 genome.wustl.edu 37 14 45464961 45464961 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 45464961 45464961 G A SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.2059 p.D687N 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 63 14 17.95 34 0 0.00 FAM179B 23116 genome.wustl.edu 37 14 45465012 45465012 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 45465012 45465012 G A SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.2110 p.D704N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 43 8 15.69 39 0 0.00 FAM180A 389558 genome.wustl.edu 37 7 135418889 135418889 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 135418889 135418889 T G SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.356 p.K119T 0.821 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 65 30 31.58 116 0 0.00 FAM180A 389558 genome.wustl.edu 37 7 135418901 135418901 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 135418901 135418901 G C SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.344 p.P115R 0.000 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 51 19 27.14 55 0 0.00 FAM180A 389558 genome.wustl.edu 37 7 135418976 135418976 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 135418976 135418976 C T SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.269 p.R90H 0.001 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 64 16 20.00 105 0 0.00 FAM180B 399888 genome.wustl.edu 37 11 47609701 47609701 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 47609701 47609701 C T SNP FAM180B ENST00000356737 human ensembl 70_37 +1 known silent c.390 p.H130 0.001 NULL NULL - no_errors FAM180B HGNC ENSG00000196666 75 56 42.42 82 0 0.00 FAM180B 399888 genome.wustl.edu 37 11 47609937 47609937 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 47609937 47609937 G A SNP FAM180B ENST00000356737 human ensembl 70_37 +1 known missense c.626 p.R209Q 1.000 NULL NULL - no_errors FAM180B HGNC ENSG00000196666 53 48 47.52 90 0 0.00 FAM181A 90050 genome.wustl.edu 37 14 94391701 94391701 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 94391701 94391701 G A SNP FAM181A ENST00000267594 human ensembl 70_37 +1 known silent c.84 p.A28 0.003 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 8 5 38.46 30 0 0.00 FAM181A 90050 genome.wustl.edu 37 14 94394853 94394853 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 14 94394853 94394853 C A SNP FAM181A ENST00000267594 human ensembl 70_37 +1 known missense c.408 p.D136E 0.647 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 73 9 10.98 71 0 0.00 FAM181A 90050 genome.wustl.edu 37 14 94395423 94395423 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 94395423 94395423 G C SNP FAM181A ENST00000267594 human ensembl 70_37 +1 known missense c.978 p.Q326H 0.999 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 71 29 29.00 97 0 0.00 FAM182A 284800 genome.wustl.edu 37 20 26061818 26061818 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 26061818 26061818 G C SNP FAM182A ENST00000246000 human ensembl 70_37 +1 known missense c.170 p.C57S 0.580 NULL NULL - no_errors FAM182A HGNC ENSG00000125804 46 9 16.36 24 0 0.00 FAM182A 284800 genome.wustl.edu 37 20 26061832 26061832 + Silent SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 20 26061832 26061832 A C SNP FAM182A ENST00000246000 human ensembl 70_37 +1 known silent c.184 p.R62 0.200 NULL NULL - no_errors FAM182A HGNC ENSG00000125804 31 4 11.43 26 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25745581 25745581 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25745581 25745581 C G SNP FAM182B ENST00000478164 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors FAM182B HGNC ENSG00000175170 20 5 20.00 27 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25831374 25831374 + RNA SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 25831374 25831374 A T SNP FAM182B ENST00000582267 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM182B HGNC ENSG00000175170 64 9 12.16 38 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25840531 25840531 + RNA SNP A A G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 25840531 25840531 A G SNP FAM182B ENST00000584356 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors FAM182B HGNC ENSG00000175170 82 10 10.87 98 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25847928 25847928 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 25847928 25847928 C T SNP FAM182B ENST00000424021 human ensembl 70_37 -1 known rna NULL NULL 0.046 - - - no_errors FAM182B HGNC ENSG00000175170 129 21 14.00 96 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25847936 25847936 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 25847936 25847936 C T SNP FAM182B ENST00000424021 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors FAM182B HGNC ENSG00000175170 0 3 100.00 9 0 0.00 FAM182B 728882 genome.wustl.edu 37 20 25848857 25848857 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 25848857 25848857 C G SNP FAM182B ENST00000582267 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM182B HGNC ENSG00000175170 17 6 24.00 25 0 0.00 FAM183B 340286 genome.wustl.edu 37 7 38725348 38725348 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 38725348 38725348 C T SNP FAM183B ENST00000409072 human ensembl 70_37 -1 novel silent c.258 p.Q86 0.007 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 28 37 56.92 65 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119285899 119285899 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 119285899 119285899 C T SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.3071 p.R1024Q 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 14 10 41.67 36 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119297141 119297141 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 119297141 119297141 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known nonsense c.2524 p.Q842* 0.939 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 15 11 42.31 25 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119327698 119327698 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 119327698 119327698 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known nonsense c.1729 p.Q577* 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 33 18 35.29 36 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119344130 119344130 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 119344130 119344130 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.1130 p.S377L 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 50 36 41.86 101 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119345270 119345270 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 119345270 119345270 C G SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.868 p.E290Q 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 35 13 27.08 72 0 0.00 FAM184A 79632 genome.wustl.edu 37 6 119345412 119345412 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 119345412 119345412 C A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.726 p.K242N 0.200 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 46 18 28.12 74 0 0.00 FAM184B 27146 genome.wustl.edu 37 4 17654508 17654508 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 17654508 17654508 C T SNP FAM184B ENST00000265018 human ensembl 70_37 -1 known silent c.2136 p.R712 0.406 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 41 27 39.71 99 0 0.00 FAM184B 27146 genome.wustl.edu 37 4 17782845 17782845 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 17782845 17782845 C G SNP FAM184B ENST00000265018 human ensembl 70_37 -1 known missense c.78 p.W26C 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 35 30 46.15 74 0 0.00 FAM185A 222234 genome.wustl.edu 37 7 102389811 102389811 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 102389811 102389811 G A SNP FAM185A ENST00000413034 human ensembl 70_37 +1 known missense c.157 p.E53K 0.000 NULL NULL - no_errors FAM185A HGNC ENSG00000222011 27 31 53.45 49 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50725554 50725554 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50725554 50725554 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known silent c.6747 p.I2249 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 16 9 36.00 42 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50745808 50745808 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 50745808 50745808 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.4807 p.L1603F 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 79 27 25.23 140 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50745835 50745835 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 50745835 50745835 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known nonsense c.4780 p.Q1594* 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 189 30 13.70 190 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50747820 50747821 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 50747820 50747821 - T INS FAM186A ENST00000327337 human ensembl 70_37 -1 known frame_shift_ins c.2795_2794 p.M932fs 0.110:0.106 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 60 24 28.57 68 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50748028 50748028 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 50748028 50748028 C T SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.2587 p.E863K 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 61 11 15.28 119 0 0.00 FAM186A 121006 genome.wustl.edu 37 12 50757009 50757009 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 50757009 50757009 C G SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.331 p.E111Q 0.118 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 55 14 20.00 27 0 0.00 FAM186B 84070 genome.wustl.edu 37 12 49994424 49994424 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 49994424 49994424 C T SNP FAM186B ENST00000257894 human ensembl 70_37 -1 known silent c.999 p.E333 0.027 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 122 79 39.11 201 1 0.49 FAM187A 100528020 genome.wustl.edu 37 17 42981563 42981563 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 17 42981563 42981563 G T SNP FAM187A ENST00000331733 human ensembl 70_37 +1 known silent c.366 p.L122 0.998 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors FAM187A HGNC ENSG00000214447 14 4 22.22 29 0 0.00 FAM187B 148109 genome.wustl.edu 37 19 35715967 35715967 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35715967 35715967 C T SNP FAM187B ENST00000324675 human ensembl 70_37 -1 known missense c.871 p.E291K 0.970 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 93 28 23.14 140 0 0.00 FAM188B 84182 genome.wustl.edu 37 7 30898883 30898883 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 30898883 30898883 G A SNP FAM188B ENST00000265299 human ensembl 70_37 +1 known missense c.1688 p.G563D 0.949 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 14 7 33.33 20 0 0.00 FAM188B2 646951 genome.wustl.edu 37 3 150591062 150591062 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 150591062 150591062 G A SNP FAM188B2 ENST00000397891 human ensembl 70_37 -1 known silent c.840 p.L280 0.998 NULL NULL - no_errors FAM188B2 HGNC ENSG00000214237 55 17 23.61 56 0 0.00 FAM189A1 23359 genome.wustl.edu 37 15 29415702 29415702 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 29415702 29415702 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known missense c.1460 p.A487V 0.967 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 68 33 32.67 166 0 0.00 FAM189A1 23359 genome.wustl.edu 37 15 29418552 29418552 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 29418552 29418552 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known silent c.1146 p.G382 0.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 24 9 27.27 45 0 0.00 FAM189A1 23359 genome.wustl.edu 37 15 29443942 29443942 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 29443942 29443942 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known nonsense c.625 p.Q209* 1.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 65 9 12.16 57 0 0.00 FAM189A1 23359 genome.wustl.edu 37 15 29861726 29861726 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 29861726 29861726 G A SNP FAM189A1 ENST00000560050 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM189A1 HGNC ENSG00000104059 39 15 27.78 38 0 0.00 FAM189A2 9413 genome.wustl.edu 37 9 71986460 71986460 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 71986460 71986460 C G SNP FAM189A2 ENST00000257515 human ensembl 70_37 +1 known missense c.58 p.L20V 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 72 30 29.13 98 0 0.00 FAM189A2 9413 genome.wustl.edu 37 9 72006623 72006623 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 72006623 72006623 C G SNP FAM189A2 ENST00000257515 human ensembl 70_37 +1 known missense c.1256 p.T419R 0.000 NULL pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 93 30 24.19 78 0 0.00 FAM189B 10712 genome.wustl.edu 37 1 155220086 155220086 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155220086 155220086 G A SNP FAM189B ENST00000361361 human ensembl 70_37 -1 known silent c.1491 p.I497 1.000 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 9 13 59.09 9 0 0.00 TVP23A 780776 genome.wustl.edu 37 16 10855155 10855155 + RNA SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 16 10855155 10855155 C T SNP FAM18A ENST00000572980 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM18A HGNC ENSG00000166676 25 4 13.79 44 0 0.00 TVP23A 780776 genome.wustl.edu 37 16 10855187 10855187 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 10855187 10855187 G C SNP FAM18A ENST00000572980 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors FAM18A HGNC ENSG00000166676 34 17 33.33 43 0 0.00 TVP23A 780776 genome.wustl.edu 37 16 10855381 10855381 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 10855381 10855381 G A SNP FAM18A ENST00000572980 human ensembl 70_37 -1 known rna NULL NULL 0.069 - - - no_errors FAM18A HGNC ENSG00000166676 23 8 25.81 18 0 0.00 TVP23B 51030 genome.wustl.edu 37 17 18702243 18702243 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18702243 18702243 G C SNP FAM18B1 ENST00000307767 human ensembl 70_37 +1 known missense c.449 p.R150T 0.997 pfam_DUF846_euk pfam_DUF846_euk - no_errors FAM18B1 HGNC ENSG00000171928 144 18 11.11 257 0 0.00 TVP23C 201158 genome.wustl.edu 37 17 15406542 15406543 + Frame_Shift_Ins INS - - CT TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 15406542 15406543 - CT INS FAM18B2 ENST00000225576 human ensembl 70_37 -1 known frame_shift_ins c.467_466 p.R156fs 0.001:0.000 NULL pfam_DUF846_euk - no_errors FAM18B2 HGNC ENSG00000175106 2 3 60.00 10 0 0.00 TVP23C 201158 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15441469 15441469 C T SNP FAM18B2 ENST00000523573 human ensembl 70_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors FAM18B2 HGNC ENSG00000175106 60 7 10.45 69 0 0.00 CCSER1 401145 genome.wustl.edu 37 4 91701592 91701592 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 91701592 91701592 G C SNP FAM190A ENST00000432775 human ensembl 70_37 +1 known splice_site c.2011-1 e7-1 0.000 - - - no_errors FAM190A HGNC ENSG00000184305 39 5 11.36 34 0 0.00 CCSER2 54462 genome.wustl.edu 37 10 86131272 86131272 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 86131272 86131272 G A SNP FAM190B ENST00000372088 human ensembl 70_37 +1 known missense c.464 p.G155D 0.744 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 24 14 36.84 62 0 0.00 CCSER2 54462 genome.wustl.edu 37 10 86274128 86274128 + RNA SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 86274128 86274128 G T SNP FAM190B ENST00000494144 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM190B HGNC ENSG00000107771 27 4 12.90 44 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2632821 2632821 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 2632821 2632821 C G SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 20 13 39.39 26 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2632837 2632837 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2632837 2632837 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.106 p.E36K 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 27 21 43.75 23 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2691423 2691423 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2691423 2691423 C T SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.1649 p.T550I 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 19 3 13.64 26 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2701482 2701482 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 2701482 2701482 C T SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2710 p.R904W 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 29 4 12.12 21 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2701497 2701497 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2701497 2701497 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2725 p.D909N 0.012 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 6 9 60.00 27 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2701666 2701666 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2701666 2701666 C A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2894 p.S965Y 0.987 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 15 15 50.00 16 0 0.00 FAM193A 8603 genome.wustl.edu 37 4 2701983 2701983 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 2701983 2701983 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.3211 p.E1071K 0.980 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 9 6 40.00 25 0 0.00 FAM193B 54540 genome.wustl.edu 37 5 176959530 176959530 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 176959530 176959530 G A SNP FAM193B ENST00000443375 human ensembl 70_37 -1 known nonsense c.850 p.R284* 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 19 10 34.48 19 0 0.00 FAM193B 54540 genome.wustl.edu 37 5 176966139 176966140 + Frame_Shift_Ins INS - - GG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 176966139 176966140 - GG INS FAM193B ENST00000514747 human ensembl 70_37 -1 novel frame_shift_ins c.220_219 p.A73fs 0.001:0.001 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 18 5 21.74 41 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150384694 150384694 + Silent SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 150384694 150384694 T C SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known silent c.1608 p.K536 0.998 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 110 17 13.39 85 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150396312 150396312 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 150396312 150396312 G A SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known nonsense c.1141 p.Q381* 1.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 59 12 16.90 25 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150404106 150404106 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 150404106 150404106 A T SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.589 p.C197S 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 40 12 23.08 64 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150404129 150404129 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 150404129 150404129 G C SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.566 p.S189C 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 35 36 50.70 35 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150416593 150416593 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 150416593 150416593 C G SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.538 p.D180H 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 23 18 43.90 38 0 0.00 FAM194A 131831 genome.wustl.edu 37 3 150421460 150421460 + Missense_Mutation SNP C C G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 150421460 150421460 C G SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.226 p.E76Q 0.003 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 22 13 37.14 40 0 0.00 FAM194B 220081 genome.wustl.edu 37 13 46161347 46161347 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 46161347 46161347 G C SNP FAM194B ENST00000298738 human ensembl 70_37 -1 known missense c.707 p.S236C 0.002 NULL NULL - no_errors FAM194B HGNC ENSG00000165837 16 8 33.33 43 0 0.00 FAM196B 100131897 genome.wustl.edu 37 5 169310240 169310240 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 169310240 169310240 G C SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known silent c.663 p.L221 0.283 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 4 19 82.61 57 0 0.00 FAM196B 100131897 genome.wustl.edu 37 5 169310802 169310802 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 169310802 169310802 G A SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 40 16 27.59 56 0 0.00 FAM196B 100131897 genome.wustl.edu 37 5 169310879 169310879 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169310879 169310879 C T SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known silent c.24 p.V8 1.000 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 18 12 40.00 32 0 0.00 FAM198A 729085 genome.wustl.edu 37 3 43074109 43074109 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 43074109 43074109 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.354 p.V118 0.004 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 30 32 51.61 30 0 0.00 FAM198A 729085 genome.wustl.edu 37 3 43074493 43074493 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 43074493 43074493 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.738 p.T246 0.006 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 26 17 39.53 27 0 0.00 FAM198A 729085 genome.wustl.edu 37 3 43074889 43074889 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 43074889 43074889 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.1134 p.L378 0.737 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 11 20 64.52 64 0 0.00 FAM198A 729085 genome.wustl.edu 37 3 43074915 43074915 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 43074915 43074915 C G SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known missense c.1160 p.S387C 1.000 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 43 11 20.37 56 0 0.00 FAM198B 51313 genome.wustl.edu 37 4 159048577 159048577 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 159048577 159048577 T C SNP FAM198B ENST00000393807 human ensembl 70_37 -1 known silent c.1566 p.V522 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 22 4 15.38 39 0 0.00 FAM198B 51313 genome.wustl.edu 37 4 159092077 159092077 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 159092077 159092077 G A SNP FAM198B ENST00000393807 human ensembl 70_37 -1 known nonsense c.451 p.Q151* 0.012 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 15 7 31.82 54 0 0.00 FAM199X 139231 genome.wustl.edu 37 X 103430825 103430825 + Missense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 103430825 103430825 C G SNP FAM199X ENST00000493442 human ensembl 70_37 +1 known missense c.496 p.L166V 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 105 67 38.73 147 0 0.00 FAM199X 139231 genome.wustl.edu 37 X 103434445 103434445 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 103434445 103434445 G C SNP FAM199X ENST00000493442 human ensembl 70_37 +1 known missense c.1153 p.D385H 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 76 24 23.76 67 0 0.00 FAM19A1 407738 genome.wustl.edu 37 3 68466528 68466528 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 68466528 68466528 A G SNP FAM19A1 ENST00000478136 human ensembl 70_37 +1 known missense c.217 p.K73E 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A1 HGNC ENSG00000183662 14 7 33.33 27 0 0.00 FAM19A3 284467 genome.wustl.edu 37 1 113265740 113265740 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 113265740 113265740 C T SNP FAM19A3 ENST00000369630 human ensembl 70_37 +1 known missense c.218 p.S73F 0.975 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 54 7 11.48 80 0 0.00 FAM19A5 25817 genome.wustl.edu 37 22 49145893 49145893 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 49145893 49145893 C T SNP FAM19A5 ENST00000473898 human ensembl 70_37 +1 known rna NULL NULL 0.833 - - - no_errors FAM19A5 HGNC ENSG00000219438 11 9 45.00 21 0 0.00 FAM200A 221786 genome.wustl.edu 37 7 99145492 99145492 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 99145492 99145492 G A SNP FAM200A ENST00000449309 human ensembl 70_37 -1 known missense c.539 p.S180L 0.122 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors FAM200A HGNC ENSG00000221909 24 12 33.33 25 0 0.00 FAM200B 285550 genome.wustl.edu 37 4 15687994 15687994 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 15687994 15687994 G C SNP FAM200B ENST00000502502 human ensembl 70_37 +1 known rna NULL NULL 0.249 - - - no_errors FAM200B HGNC ENSG00000237765 29 24 45.28 46 0 0.00 FAM200B 285550 genome.wustl.edu 37 4 15688706 15688706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15688706 15688706 G A SNP FAM200B ENST00000422728 human ensembl 70_37 +1 putative missense c.106 p.E36K 0.207 NULL superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 50 19 27.54 62 0 0.00 FAM200B 285550 genome.wustl.edu 37 4 15689274 15689274 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 15689274 15689274 T C SNP FAM200B ENST00000422728 human ensembl 70_37 +1 putative missense c.674 p.F225S 0.980 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 22 8 26.67 36 0 0.00 FAM200B 285550 genome.wustl.edu 37 4 15690878 15690878 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15690878 15690878 G C SNP FAM200B ENST00000504137 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM200B HGNC ENSG00000237765 10 8 44.44 29 0 0.00 FAM201A 158228 genome.wustl.edu 37 9 38620536 38620536 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 38620536 38620536 C T SNP FAM201A ENST00000471864 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors FAM201A HGNC ENSG00000204860 16 4 20.00 24 0 0.00 FAM204A 63877 genome.wustl.edu 37 10 120070842 120070843 + RNA INS - - G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120070842 120070843 - G INS FAM204A ENST00000467890 human ensembl 70_37 -1 known rna NULL NULL 0.010:0.002 - - - no_errors FAM204A HGNC ENSG00000165669 34 4 10.53 46 0 0.00 FAM204A 63877 genome.wustl.edu 37 10 120095732 120095732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 120095732 120095732 C T SNP FAM204A ENST00000369172 human ensembl 70_37 -1 known missense c.196 p.E66K 0.863 NULL NULL - no_errors FAM204A HGNC ENSG00000165669 30 22 42.31 86 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34724748 34724748 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 34724748 34724748 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2489 p.S830L 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 86 15 14.85 84 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34724853 34724853 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 34724853 34724853 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2384 p.A795V 0.998 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 37 10 21.28 67 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34725047 34725047 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34725047 34725047 C T SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel silent c.2190 p.P730 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 88 14 13.73 60 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34725112 34725112 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 34725112 34725112 C G SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2125 p.A709P 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 36 30 45.45 55 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34725732 34725732 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 34725732 34725732 G C SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.1505 p.S502C 0.002 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 31 24 43.64 37 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34725742 34725742 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34725742 34725742 T C SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.1495 p.M499V 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 48 17 26.15 71 0 0.00 FAM205A 259308 genome.wustl.edu 37 9 34726806 34726806 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 34726806 34726806 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.431 p.T144M 0.000 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 39 13 25.00 55 0 0.00 FAM206A 54942 genome.wustl.edu 37 9 111701683 111701683 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 111701683 111701683 G C SNP FAM206A ENST00000322940 human ensembl 70_37 +1 known missense c.357 p.L119F 1.000 pfam_GCV_H,superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 10 10 50.00 16 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56659007 56659007 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 56659007 56659007 C A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3984 p.L1328F 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 11 11 50.00 21 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56659024 56659024 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 56659024 56659024 T C SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3967 p.K1323E 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 15 4 21.05 20 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56667358 56667358 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 56667358 56667358 G A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3278 p.S1093L 0.868 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 19 16 45.71 40 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56667374 56667374 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 56667374 56667374 C A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known nonsense c.3262 p.E1088* 0.996 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 22 16 42.11 45 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56667588 56667588 + Silent SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 56667588 56667588 A G SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known silent c.3048 p.F1016 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 115 23 16.67 177 0 0.00 FAM208A 23272 genome.wustl.edu 37 3 56667929 56667929 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 56667929 56667929 G A SNP FAM208A ENST00000493960 human ensembl 70_37 -1 putative missense c.2890 p.R964W 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 21 27 56.25 34 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5768852 5768852 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 5768852 5768852 T G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.356 p.I119S 1.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 31 8 20.51 54 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5777311 5777311 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 5777311 5777311 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.1249 p.D417H 0.933 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 36 5 12.20 32 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5782322 5782322 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 5782322 5782322 C A SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.2189 p.S730Y 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 8 3 27.27 21 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5788653 5788653 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 5788653 5788653 C G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.3269 p.A1090G 0.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 28 6 17.65 44 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5788751 5788751 + Missense_Mutation SNP T T G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 5788751 5788751 T G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.3367 p.Y1123D 0.009 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 16 17 51.52 34 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5789975 5789976 + Frame_Shift_Ins INS - - C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 10 5789975 5789976 - C INS FAM208B ENST00000328090 human ensembl 70_37 +1 known frame_shift_ins c.4591_4592 p.A1532fs 0.000:0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 9 4 30.77 41 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5790084 5790084 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 5790084 5790084 T A SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.4700 p.L1567H 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 13 8 38.10 38 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5790636 5790636 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 5790636 5790636 C T SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5252 p.S1751F 0.001 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 45 12 21.05 41 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5790767 5790767 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5790767 5790767 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5383 p.E1795Q 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 50 11 18.03 50 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5791144 5791144 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791144 5791144 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.5760 p.G1920 0.108 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 34 4 10.53 45 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5791198 5791198 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791198 5791198 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5814 p.M1938I 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 33 6 15.38 43 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5791687 5791687 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791687 5791687 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.6303 p.V2101 0.819 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 42 7 14.29 27 0 0.00 FAM208B 54906 genome.wustl.edu 37 10 5791870 5791870 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 5791870 5791870 C T SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.6486 p.I2162 0.931 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 28 9 24.32 29 0 0.00 FAM209A 200232 genome.wustl.edu 37 20 55099992 55099992 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 55099992 55099992 G T SNP FAM209A ENST00000371328 human ensembl 70_37 +1 known missense c.128 p.R43L 0.966 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 78 10 11.36 114 0 0.00 FAM209A 200232 genome.wustl.edu 37 20 55100944 55100944 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 55100944 55100944 G T SNP FAM209A ENST00000371328 human ensembl 70_37 +1 known missense c.334 p.A112S 0.001 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 26 13 33.33 44 0 0.00 FAM209B 388799 genome.wustl.edu 37 20 55108465 55108465 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 55108465 55108465 C T SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.68 p.S23F 0.942 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 156 55 26.07 236 0 0.00 FAM209B 388799 genome.wustl.edu 37 20 55111233 55111233 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 55111233 55111233 G C SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.255 p.Q85H 0.259 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 70 27 27.84 113 0 0.00 FAM209B 388799 genome.wustl.edu 37 20 55111363 55111363 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 55111363 55111363 G C SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.385 p.E129Q 0.992 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 11 18 62.07 35 0 0.00 FAM20A 54757 genome.wustl.edu 37 17 66538872 66538872 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66538872 66538872 C T SNP FAM20A ENST00000592554 human ensembl 70_37 -1 known silent c.891 p.K297 1.000 NULL pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 122 41 25.15 175 0 0.00 FAM20A 54757 genome.wustl.edu 37 17 66551867 66551867 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 66551867 66551867 C G SNP FAM20A ENST00000592554 human ensembl 70_37 -1 known missense c.422 p.R141T 0.102 NULL pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 37 10 21.28 48 0 0.00 FAM20B 9917 genome.wustl.edu 37 1 179033476 179033476 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 179033476 179033476 G A SNP FAM20B ENST00000263733 human ensembl 70_37 +1 known silent c.783 p.K261 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 43 13 23.21 46 0 0.00 FAM210A 125228 genome.wustl.edu 37 18 13666565 13666565 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 13666565 13666565 C T SNP FAM210A ENST00000322247 human ensembl 70_37 -1 known missense c.733 p.E245K 1.000 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 54 32 37.21 100 0 0.00 FAM210B 116151 genome.wustl.edu 37 20 54941154 54941154 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 54941154 54941154 G A SNP FAM210B ENST00000371384 human ensembl 70_37 +1 known silent c.390 p.L130 0.734 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210B HGNC ENSG00000124098 41 14 25.45 54 0 0.00 FAM211A 388341 genome.wustl.edu 37 17 16347309 16347309 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 16347309 16347309 C A SNP FAM211A ENST00000470794 human ensembl 70_37 -1 known missense c.628 p.G210C 1.000 NULL NULL - no_errors FAM211A HGNC ENSG00000181350 20 42 67.74 77 0 0.00 FAM211B 388886 genome.wustl.edu 37 22 24984193 24984193 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 24984193 24984193 C G SNP FAM211B ENST00000318753 human ensembl 70_37 -1 known missense c.411 p.K137N 0.214 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 65 12 15.58 67 0 0.00 FAM212A 389119 genome.wustl.edu 37 3 49841843 49841843 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 49841843 49841843 C G SNP FAM212A ENST00000333323 human ensembl 70_37 +1 known missense c.287 p.S96C 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 30 7 18.92 32 0 0.00 FAM212B 55924 genome.wustl.edu 37 1 112270351 112270351 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 112270351 112270351 G T SNP FAM212B ENST00000357260 human ensembl 70_37 -1 known missense c.133 p.L45I 1.000 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 10 9 47.37 20 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52877015 52877015 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 15 52877015 52877015 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.3004 p.V1002M 0.979 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 23 5 17.86 60 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52877050 52877050 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 52877050 52877050 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.2969 p.R990Q 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 118 58 32.95 146 1 0.68 FAM214A 56204 genome.wustl.edu 37 15 52892428 52892428 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 52892428 52892428 G C SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.2545 p.R849G 0.987 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 34 14 29.17 58 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52892428 52892428 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52892428 52892428 G T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.2545 p.R849 0.987 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 28 7 20.00 16 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52901377 52901377 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 52901377 52901377 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.1734 p.L578 0.002 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 72 23 24.21 101 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52901518 52901518 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 52901518 52901518 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.1593 p.L531 0.988 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 22 36 62.07 29 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52901518 52901518 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 52901518 52901518 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.1593 p.L531 0.988 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 54 76 58.46 107 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52902315 52902315 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 52902315 52902315 G A SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.796 p.R266C 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 121 15 11.03 221 0 0.00 FAM214A 56204 genome.wustl.edu 37 15 52902402 52902402 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52902402 52902402 C G SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.709 p.E237Q 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 35 13 27.08 47 0 0.00 FAM217A 222826 genome.wustl.edu 37 6 4049817 4049817 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 4049817 4049817 C G SNP FAM217A ENST00000463904 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM217A HGNC ENSG00000145975 4 9 69.23 13 0 0.00 FAM217A 222826 genome.wustl.edu 37 6 4069315 4069315 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 4069315 4069315 G A SNP FAM217A ENST00000274673 human ensembl 70_37 -1 known missense c.1142 p.S381F 0.004 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 46 31 39.74 73 0 0.00 FAM217A 222826 genome.wustl.edu 37 6 4073577 4073577 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 4073577 4073577 C T SNP FAM217A ENST00000274673 human ensembl 70_37 -1 known splice_site c.235-1 e5-1 0.986 - - - no_errors FAM217A HGNC ENSG00000145975 12 3 20.00 37 0 0.00 FAM217B 63939 genome.wustl.edu 37 20 58519266 58519266 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 58519266 58519266 G T SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.268 p.D90Y 1.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 21 6 22.22 36 0 0.00 FAM217B 63939 genome.wustl.edu 37 20 58519380 58519380 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 58519380 58519380 G A SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.382 p.D128N 0.033 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 103 19 15.57 82 0 0.00 FAM217B 63939 genome.wustl.edu 37 20 58520067 58520067 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 58520067 58520067 G A SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.1069 p.E357K 0.002 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 16 9 36.00 18 0 0.00 FAM217B 63939 genome.wustl.edu 37 20 58520099 58520099 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58520099 58520099 G C SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.1101 p.E367D 1.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 22 5 18.52 34 0 0.00 FAM21A 387680 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 70_37 +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 5 3 37.50 14 0 0.00 FAM21A 387680 genome.wustl.edu 37 10 51889698 51889698 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 51889698 51889698 G T SNP FAM21A ENST00000282633 human ensembl 70_37 +1 known nonsense c.3607 p.E1203* 1.000 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 83 57 40.71 135 0 0.00 FAM21C 253725 genome.wustl.edu 37 10 46222947 46222947 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 46222947 46222947 G A SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.86 p.R29H 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 7 3 30.00 12 0 0.00 FAM21C 253725 genome.wustl.edu 37 10 46280987 46280987 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 46280987 46280987 G C SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.2719 p.D907H 0.993 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 85 21 19.81 66 0 0.00 FAM21C 253725 genome.wustl.edu 37 10 46282505 46282505 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 46282505 46282505 C T SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.2834 p.A945V 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 23 15 39.47 71 0 0.00 FAM221B 392307 genome.wustl.edu 37 9 35821622 35821622 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35821622 35821622 C A SNP FAM221B ENST00000388950 human ensembl 70_37 -1 known missense c.746 p.R249I 0.002 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 28 8 22.22 46 0 0.00 FAM222A 84915 genome.wustl.edu 37 12 110206094 110206094 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 110206094 110206094 G T SNP FAM222A ENST00000358906 human ensembl 70_37 +1 known silent c.360 p.G120 0.005 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 11 5 31.25 15 0 0.00 FAM222B 55731 genome.wustl.edu 37 17 27086112 27086112 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 27086112 27086112 C G SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 51 16 23.88 55 0 0.00 FAM222B 55731 genome.wustl.edu 37 17 27086173 27086173 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 27086173 27086173 G C SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known missense c.804 p.I268M 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 91 20 18.02 106 0 0.00 FAM222B 55731 genome.wustl.edu 37 17 27086726 27086726 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27086726 27086726 G C SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known nonsense c.251 p.S84* 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 66 46 41.07 128 0 0.00 FAM225B 100128385 genome.wustl.edu 37 9 115867593 115867593 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 115867593 115867593 C T SNP FAM225B ENST00000423546 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors FAM225B HGNC ENSG00000225684 27 16 37.21 19 0 0.00 FAM227A 646851 genome.wustl.edu 37 22 39003465 39003465 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 39003465 39003465 G A SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.1040 p.S347L 0.000 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC ENSG00000184949 8 6 42.86 19 0 0.00 FAM227A 646851 genome.wustl.edu 37 22 39032460 39032460 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 39032460 39032460 C T SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.497 p.G166D 0.996 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC ENSG00000184949 91 32 26.02 110 1 0.89 FAM227A 646851 genome.wustl.edu 37 22 39041581 39041581 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 39041581 39041581 G A SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.194 p.S65L 0.000 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC ENSG00000184949 25 13 34.21 43 0 0.00 FAM227B 196951 genome.wustl.edu 37 15 49860490 49860490 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 49860490 49860490 C T SNP FAM227B ENST00000299338 human ensembl 70_37 -1 known silent c.699 p.V233 0.966 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 43 9 17.31 65 0 0.00 FAM227B 196951 genome.wustl.edu 37 15 49882154 49882154 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 49882154 49882154 G C SNP FAM227B ENST00000299338 human ensembl 70_37 -1 known missense c.156 p.C52W 0.000 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 94 16 14.55 62 0 0.00 FAM228B 375190 genome.wustl.edu 37 2 24369682 24369682 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 24369682 24369682 G T SNP FAM228B ENST00000420135 human ensembl 70_37 +1 known missense c.506 p.R169I 1.000 NULL NULL - no_errors FAM228B HGNC ENSG00000219626 17 7 29.17 45 0 0.00 NUTM2A 728118 genome.wustl.edu 37 10 88994238 88994238 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 88994238 88994238 G A SNP FAM22A ENST00000381707 human ensembl 70_37 +1 known missense c.2410 p.E804K 0.000 NULL NULL - no_errors FAM22A HGNC ENSG00000184923 51 12 19.05 79 0 0.00 NUTM2B 729262 genome.wustl.edu 37 10 81465963 81465963 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 81465963 81465963 G T SNP FAM22B ENST00000429828 human ensembl 70_37 +1 known missense c.548 p.S183I 0.001 NULL NULL - no_errors FAM22B HGNC ENSG00000188199 107 22 17.05 139 0 0.00 NUTM2B 729262 genome.wustl.edu 37 10 81466126 81466126 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 81466126 81466126 C T SNP FAM22B ENST00000429828 human ensembl 70_37 +1 known silent c.711 p.L237 0.003 NULL NULL - no_errors FAM22B HGNC ENSG00000188199 33 12 26.67 45 0 0.00 NUTM2D 728130 genome.wustl.edu 37 10 89118101 89118101 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 89118101 89118101 C G SNP FAM22D ENST00000381697 human ensembl 70_37 +1 known missense c.79 p.L27V 0.014 NULL NULL - no_errors FAM22D HGNC ENSG00000214562 362 63 14.75 668 0 0.00 NUTM2D 728130 genome.wustl.edu 37 10 89125891 89125891 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 89125891 89125891 C T SNP FAM22D ENST00000465545 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM22D HGNC ENSG00000214562 25 10 28.57 19 0 0.00 NUTM2F 54754 genome.wustl.edu 37 9 97081084 97081084 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 97081084 97081084 G A SNP FAM22F ENST00000253262 human ensembl 70_37 -1 known missense c.1934 p.S645F 0.001 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 19 11 36.67 30 0 0.00 NUTM2F 54754 genome.wustl.edu 37 9 97082512 97082512 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 97082512 97082512 G A SNP FAM22F ENST00000253262 human ensembl 70_37 -1 known missense c.1346 p.S449F 0.818 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 58 24 29.27 98 0 0.00 NUTM2G 441457 genome.wustl.edu 37 9 99700769 99700769 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 99700769 99700769 G C SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1564 p.E522Q 0.001 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 76 19 20.00 134 0 0.00 NUTM2G 441457 genome.wustl.edu 37 9 99700821 99700821 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 99700821 99700821 C T SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1616 p.T539M 0.000 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 122 32 20.78 154 0 0.00 NUTM2G 441457 genome.wustl.edu 37 9 99700851 99700851 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 99700851 99700851 G C SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1646 p.R549T 0.000 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 114 45 28.12 193 0 0.00 NUTM2G 441457 genome.wustl.edu 37 9 99700931 99700931 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 99700931 99700931 C T SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1726 p.R576W 0.001 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 23 73 76.04 64 0 0.00 FAM24A 118670 genome.wustl.edu 37 10 124672381 124672381 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124672381 124672381 C T SNP FAM24A ENST00000368894 human ensembl 70_37 +1 known missense c.229 p.P77S 0.000 NULL NULL - no_errors FAM24A HGNC ENSG00000203795 21 23 52.27 95 0 0.00 FAM26D 221301 genome.wustl.edu 37 6 116875034 116875034 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 116875034 116875034 G C SNP FAM26D ENST00000368596 human ensembl 70_37 +1 known missense c.78 p.L26F 1.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 16 7 29.17 41 0 0.00 FAM26D 221301 genome.wustl.edu 37 6 116875494 116875494 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 116875494 116875494 C T SNP FAM26D ENST00000368596 human ensembl 70_37 +1 known silent c.538 p.L180 1.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 10 3 23.08 24 0 0.00 FAM26E 254228 genome.wustl.edu 37 6 116832890 116832890 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116832890 116832890 T G SNP FAM26E ENST00000368599 human ensembl 70_37 +1 known missense c.31 p.F11V 0.942 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 11 12 52.17 45 0 0.00 FAM26F 441168 genome.wustl.edu 37 6 116783191 116783191 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 116783191 116783191 C G SNP FAM26F ENST00000368605 human ensembl 70_37 +1 known missense c.99 p.I33M 1.000 NULL NULL - no_errors FAM26F HGNC ENSG00000188820 29 4 12.12 26 0 0.00 FAM27E3 100131997 genome.wustl.edu 37 9 67786101 67786101 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 67786101 67786101 C T SNP FAM27E3 ENST00000455764 human ensembl 70_37 -1 known missense c.154 p.A52T 0.004 NULL NULL - no_errors FAM27E3 HGNC ENSG00000232833 9 8 47.06 9 0 0.00 FAM27L 284123 genome.wustl.edu 37 17 21825355 21825355 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 21825355 21825355 C T SNP FAM27L ENST00000426869 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM27L HGNC ENSG00000178130 5 17 77.27 61 0 0.00 FAM27L 284123 genome.wustl.edu 37 17 21826336 21826336 + RNA SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 21826336 21826336 C T SNP FAM27L ENST00000426869 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors FAM27L HGNC ENSG00000178130 48 10 17.24 44 0 0.00 FAM35A 54537 genome.wustl.edu 37 10 88911700 88911700 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 88911700 88911700 G C SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.589 p.E197Q 0.000 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 73 25 25.51 46 0 0.00 FAM35A 54537 genome.wustl.edu 37 10 88911721 88911721 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 88911721 88911721 C T SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.610 p.H204Y 0.006 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 34 26 43.33 67 0 0.00 FAM35A 54537 genome.wustl.edu 37 10 88911902 88911902 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 88911902 88911902 C A SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.791 p.P264H 0.000 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 35 19 35.19 71 0 0.00 FAM3A 60343 genome.wustl.edu 37 X 153741234 153741234 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 153741234 153741234 C T SNP FAM3A ENST00000359889 human ensembl 70_37 -1 known missense c.40 p.V14I 0.000 NULL NULL - no_errors FAM3A HGNC ENSG00000071889 48 34 41.46 58 0 0.00 FAM3D 131177 genome.wustl.edu 37 3 58620041 58620041 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 58620041 58620041 C G SNP FAM3D ENST00000358781 human ensembl 70_37 -1 known missense c.640 p.E214Q 1.000 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 21 15 41.67 26 0 0.00 FAM43B 163933 genome.wustl.edu 37 1 20879728 20879728 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 20879728 20879728 G C SNP FAM43B ENST00000332947 human ensembl 70_37 +1 known missense c.262 p.D88H 1.000 smart_PTyr_interaction_dom smart_PTyr_interaction_dom - no_errors FAM43B HGNC ENSG00000183114 25 10 28.57 25 0 0.00 FAM45A 404636 genome.wustl.edu 37 10 120871374 120871374 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 120871374 120871374 C G SNP FAM45A ENST00000361432 human ensembl 70_37 +1 known missense c.266 p.S89C 1.000 NULL pfam_Secretory_pathway_prot_Avl9 - no_errors FAM45A HGNC ENSG00000119979 37 13 26.00 42 0 0.00 FAM45A 404636 genome.wustl.edu 37 10 120893115 120893115 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120893115 120893115 C A SNP FAM45A ENST00000462327 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors FAM45A HGNC ENSG00000119979 18 3 14.29 33 0 0.00 FAM45B 55855 genome.wustl.edu 37 X 129630139 129630139 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 129630139 129630139 G A SNP FAM45B ENST00000592932 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors FAM45B HGNC ENSG00000221930 18 8 30.77 25 0 0.00 FAM46A 55603 genome.wustl.edu 37 6 82459782 82459782 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 82459782 82459782 G A SNP FAM46A ENST00000369756 human ensembl 70_37 -1 known missense c.1202 p.S401F 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 27 14 34.15 28 0 0.00 FAM46A 55603 genome.wustl.edu 37 6 82459822 82459822 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 82459822 82459822 C T SNP FAM46A ENST00000369756 human ensembl 70_37 -1 known missense c.1162 p.A388T 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 24 12 33.33 49 0 0.00 FAM46B 115572 genome.wustl.edu 37 1 27332618 27332618 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 27332618 27332618 C T SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known silent c.1095 p.T365 0.006 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 17 6 26.09 25 0 0.00 FAM46B 115572 genome.wustl.edu 37 1 27332842 27332842 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 27332842 27332842 G A SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known missense c.871 p.R291W 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 27 8 22.86 31 0 0.00 FAM46B 115572 genome.wustl.edu 37 1 27332978 27332978 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27332978 27332978 G A SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known silent c.735 p.V245 0.221 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 51 11 17.74 57 0 0.00 FAM46D 169966 genome.wustl.edu 37 X 79698858 79698858 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 79698858 79698858 G T SNP FAM46D ENST00000308293 human ensembl 70_37 +1 known nonsense c.820 p.E274* 0.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 11 5 31.25 66 0 0.00 FAM47A 158724 genome.wustl.edu 37 X 34148613 34148613 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 34148613 34148613 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1783 p.V595I 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 47 7 12.96 79 0 0.00 FAM47A 158724 genome.wustl.edu 37 X 34148721 34148721 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 34148721 34148721 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1675 p.E559K 0.009 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 65 31 31.96 75 0 0.00 FAM47A 158724 genome.wustl.edu 37 X 34148844 34148844 + Missense_Mutation SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 34148844 34148844 G C SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1552 p.R518G 0.005 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 67 9 11.84 101 1 0.97 FAM47A 158724 genome.wustl.edu 37 X 34149541 34149541 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 34149541 34149541 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known silent c.855 p.K285 0.021 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 29 9 23.68 41 0 0.00 FAM47A 158724 genome.wustl.edu 37 X 34149765 34149765 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 34149765 34149765 G A SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known silent c.631 p.L211 0.001 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 111 33 22.92 115 0 0.00 FAM47B 170062 genome.wustl.edu 37 X 34961357 34961357 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 34961357 34961357 C A SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known missense c.409 p.L137M 0.087 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 115 35 23.33 107 0 0.00 FAM47B 170062 genome.wustl.edu 37 X 34961911 34961911 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 X 34961911 34961911 G A SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known silent c.963 p.P321 0.998 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 61 53 46.49 97 0 0.00 FAM47B 170062 genome.wustl.edu 37 X 34962239 34962239 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 34962239 34962239 G A SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known missense c.1291 p.G431R 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 32 40 55.56 78 0 0.00 FAM47B 170062 genome.wustl.edu 37 X 34962465 34962465 + Nonsense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 34962465 34962465 C G SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known nonsense c.1517 p.S506* 0.003 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 55 10 15.38 52 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 37026576 37026576 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.93 p.A31 0.009 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 2 17 89.47 28 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 37026576 37026576 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.93 p.A31 0.009 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 6 22 78.57 35 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37027059 37027059 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 37027059 37027059 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.576 p.E192 0.706 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 38 12 24.00 89 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37027105 37027105 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 37027105 37027105 T A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.622 p.S208T 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 43 20 31.25 95 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37027435 37027435 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 37027435 37027435 C T SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.952 p.L318F 0.070 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 76 24 24.00 134 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37027642 37027642 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 37027642 37027642 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1159 p.V387I 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 65 26 28.57 93 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37027934 37027934 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 37027934 37027934 C T SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1451 p.S484F 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 160 82 33.88 229 0 0.00 FAM47C 442444 genome.wustl.edu 37 X 37028026 37028026 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 37028026 37028026 T C SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1543 p.S515P 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 90 39 30.23 124 1 0.79 FAM47C 442444 genome.wustl.edu 37 X 37028659 37028659 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 37028659 37028659 C G SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.2176 p.L726V 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 102 96 48.48 149 1 0.67 SUPT20H 55578 genome.wustl.edu 37 13 37598223 37598223 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 37598223 37598223 G C SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.1540 p.Q514E 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC ENSG00000102710 84 21 20.00 128 0 0.00 SUPT20H 55578 genome.wustl.edu 37 13 37603941 37603941 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 37603941 37603941 G C SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.954 p.I318M 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC ENSG00000102710 28 7 20.00 40 0 0.00 SUPT20H 55578 genome.wustl.edu 37 13 37605926 37605926 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 37605926 37605926 C G SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC ENSG00000102710 39 11 22.00 39 0 0.00 SUPT20H 55578 genome.wustl.edu 37 13 37614596 37614596 + Splice_Site SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 37614596 37614596 C A SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known splice_site c.514-1 e8-1 1.000 - - - no_errors FAM48A HGNC ENSG00000102710 18 26 59.09 36 0 0.00 SUPT20H 55578 genome.wustl.edu 37 13 37614596 37614596 + Splice_Site SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 37614596 37614596 C A SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known splice_site c.514-1 e8-1 1.000 - - - no_errors FAM48A HGNC ENSG00000102710 7 5 41.67 45 0 0.00 FAM49A 81553 genome.wustl.edu 37 2 16734221 16734221 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 16734221 16734221 G C SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known missense c.955 p.R319G 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 30 23 43.40 53 0 0.00 FAM49A 81553 genome.wustl.edu 37 2 16740741 16740741 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 16740741 16740741 G A SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known missense c.824 p.T275I 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 52 27 34.18 60 0 0.00 FAM49A 81553 genome.wustl.edu 37 2 16742802 16742802 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 16742802 16742802 C G SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known splice_site c.436-1 e5-1 1.000 - - - no_errors FAM49A HGNC ENSG00000197872 34 20 37.04 30 0 0.00 FAM49B 51571 genome.wustl.edu 37 8 130864412 130864412 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 130864412 130864412 G A SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.629 p.S210L 0.996 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 73 63 46.32 68 0 0.00 FAM49B 51571 genome.wustl.edu 37 8 130864412 130864412 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 130864412 130864412 G C SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known nonsense c.629 p.S210* 0.996 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 70 20 21.98 87 0 0.00 FAM49B 51571 genome.wustl.edu 37 8 130883699 130883699 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 130883699 130883699 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known silent c.117 p.V39 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 19 5 20.83 45 0 0.00 FAM49B 51571 genome.wustl.edu 37 8 130883722 130883722 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 130883722 130883722 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.94 p.E32K 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 19 5 20.83 34 0 0.00 FAM49B 51571 genome.wustl.edu 37 8 130891638 130891638 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 130891638 130891638 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 39 8 17.02 9 0 0.00 FAM50A 9130 genome.wustl.edu 37 X 153674233 153674233 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 153674233 153674233 G A SNP FAM50A ENST00000393600 human ensembl 70_37 +1 known silent c.270 p.K90 1.000 NULL pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 63 8 11.27 57 0 0.00 FAM50A 9130 genome.wustl.edu 37 X 153677568 153677568 + Splice_Site SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 153677568 153677568 G A SNP FAM50A ENST00000393600 human ensembl 70_37 +1 known splice_site c.649-1 e8-1 1.000 - - - no_errors FAM50A HGNC ENSG00000071859 27 16 37.21 46 0 0.00 FAM50A 9130 genome.wustl.edu 37 X 153678638 153678638 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153678638 153678638 G A SNP FAM50A ENST00000393600 human ensembl 70_37 +1 known missense c.982 p.D328N 0.994 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 37 19 33.93 106 0 0.00 FAM50B 26240 genome.wustl.edu 37 6 3850731 3850731 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 3850731 3850731 C T SNP FAM50B ENST00000380272 human ensembl 70_37 +1 known missense c.686 p.S229F 0.006 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 59 18 23.38 91 0 0.00 FAM53B 9679 genome.wustl.edu 37 10 126384767 126384767 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 126384767 126384767 C G SNP FAM53B ENST00000337318 human ensembl 70_37 -1 known missense c.93 p.K31N 1.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 179 56 23.73 280 0 0.00 FAM53C 51307 genome.wustl.edu 37 5 137673983 137673983 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 137673983 137673983 C T SNP FAM53C ENST00000505768 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors FAM53C HGNC ENSG00000120709 12 38 74.51 27 0 0.00 MTFR2 113115 genome.wustl.edu 37 6 136560647 136560647 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 136560647 136560647 C T SNP FAM54A ENST00000420702 human ensembl 70_37 -1 known missense c.826 p.V276I 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors FAM54A HGNC ENSG00000146410 28 15 34.88 46 0 0.00 FAM57A 79850 genome.wustl.edu 37 17 643789 643789 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 643789 643789 C T SNP FAM57A ENST00000308278 human ensembl 70_37 +1 known silent c.453 p.F151 0.990 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57A HGNC ENSG00000167695 118 49 29.34 205 0 0.00 FAM58A 92002 genome.wustl.edu 37 X 152858020 152858020 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 152858020 152858020 G A SNP FAM58A ENST00000406277 human ensembl 70_37 -1 known nonsense c.595 p.Q199* 0.998 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 24 44 64.71 124 0 0.00 GAREM 64762 genome.wustl.edu 37 18 29847959 29847959 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 29847959 29847959 C T SNP FAM59A ENST00000269209 human ensembl 70_37 -1 known missense c.2506 p.E836K 1.000 superfamily_SAM/pointed superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 21 25 54.35 57 0 0.00 GAREM 64762 genome.wustl.edu 37 18 29867235 29867235 + Nonsense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 29867235 29867235 G C SNP FAM59A ENST00000269209 human ensembl 70_37 -1 known nonsense c.1325 p.S442* 0.337 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 12 4 25.00 11 0 0.00 GAREM 64762 genome.wustl.edu 37 18 29867486 29867486 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 18 29867486 29867486 C T SNP FAM59A ENST00000269209 human ensembl 70_37 -1 known silent c.1074 p.K358 0.988 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 14 10 41.67 26 0 0.00 GAREML 150946 genome.wustl.edu 37 2 26410287 26410287 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26410287 26410287 G A SNP FAM59B ENST00000401533 human ensembl 70_37 +1 known missense c.1786 p.A596T 0.002 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC ENSG00000157833 45 25 35.21 96 0 0.00 GAREML 150946 genome.wustl.edu 37 2 26410897 26410897 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26410897 26410897 C T SNP FAM59B ENST00000401533 human ensembl 70_37 +1 known missense c.2396 p.S799F 0.988 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC ENSG00000157833 26 21 44.68 63 0 0.00 FAM5B 57795 genome.wustl.edu 37 1 177226388 177226388 + Silent SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 177226388 177226388 A T SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known silent c.537 p.I179 0.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 20 17 45.95 56 0 0.00 FAM5B 57795 genome.wustl.edu 37 1 177250105 177250105 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 177250105 177250105 C G SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known missense c.1793 p.S598C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 31 13 29.55 42 0 0.00 FAM5B 57795 genome.wustl.edu 37 1 177250575 177250575 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 177250575 177250575 G C SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known missense c.2263 p.E755Q 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 61 24 28.24 91 0 0.00 FAM5B 57795 genome.wustl.edu 37 1 177250921 177250921 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 177250921 177250921 G A SNP FAM5B ENST00000478325 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors FAM5B HGNC ENSG00000198797 30 13 30.23 32 0 0.00 FAM5C 339479 genome.wustl.edu 37 1 190066940 190066940 + RNA SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 190066940 190066940 A T SNP FAM5C ENST00000484105 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM5C HGNC ENSG00000162670 69 20 22.47 59 0 0.00 FAM5C 339479 genome.wustl.edu 37 1 190067983 190067983 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 190067983 190067983 T C SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.1466 p.E489G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 15 9 37.50 28 0 0.00 FAM5C 339479 genome.wustl.edu 37 1 190130001 190130001 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 190130001 190130001 C T SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 39 8 17.02 29 0 0.00 FAM5C 339479 genome.wustl.edu 37 1 190233994 190233994 + Splice_Site SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 190233994 190233994 C T SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known splice_site c.618+1 e3+1 1.000 - - - no_errors FAM5C HGNC ENSG00000162670 30 7 18.92 44 0 0.00 FAM5C 339479 genome.wustl.edu 37 1 190423875 190423875 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 190423875 190423875 G A SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.146 p.S49F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 34 12 26.09 38 0 0.00 FAM63A 55793 genome.wustl.edu 37 1 150974870 150974870 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 150974870 150974870 G C SNP FAM63A ENST00000361738 human ensembl 70_37 -1 known nonsense c.368 p.S123* 0.003 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 32 26 44.83 45 0 0.00 FAM63A 55793 genome.wustl.edu 37 1 150975116 150975116 + Missense_Mutation SNP G G C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 150975116 150975116 G C SNP FAM63A ENST00000361738 human ensembl 70_37 -1 known missense c.122 p.P41R 0.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 69 22 24.18 47 0 0.00 FAM63B 54629 genome.wustl.edu 37 15 59064305 59064305 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59064305 59064305 C T SNP FAM63B ENST00000559228 human ensembl 70_37 +1 known silent c.711 p.F237 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 48 17 26.15 57 0 0.00 FAM63B 54629 genome.wustl.edu 37 15 59080149 59080149 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 59080149 59080149 G A SNP FAM63B ENST00000559228 human ensembl 70_37 +1 known silent c.885 p.L295 1.000 pfam_DUF544 pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 40 16 28.57 147 0 0.00 FAM64A 54478 genome.wustl.edu 37 17 6348471 6348471 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 6348471 6348471 G A SNP FAM64A ENST00000250056 human ensembl 70_37 +1 known missense c.41 p.R14Q 0.004 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC ENSG00000129195 26 4 13.33 28 0 0.00 FAM65B 9750 genome.wustl.edu 37 6 24843776 24843776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 24843776 24843776 G C SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known missense c.1234 p.L412V 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 21 8 27.59 22 0 0.00 FAM65B 9750 genome.wustl.edu 37 6 24861255 24861255 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 24861255 24861255 T C SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known missense c.574 p.T192A 0.998 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 36 5 12.20 35 0 0.00 FAM65B 9750 genome.wustl.edu 37 6 24873921 24873921 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 24873921 24873921 G A SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known nonsense c.208 p.Q70* 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 31 19 38.00 57 0 0.00 FAM65B 9750 genome.wustl.edu 37 6 25042096 25042096 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 25042096 25042096 C T SNP FAM65B ENST00000510784 human ensembl 70_37 -1 known missense c.59 p.R20Q 1.000 NULL NULL - no_errors FAM65B HGNC ENSG00000111913 47 12 20.34 53 0 0.00 FAM65B 9750 genome.wustl.edu 37 6 25042141 25042141 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 25042141 25042141 G A SNP FAM65B ENST00000510784 human ensembl 70_37 -1 known missense c.14 p.S5L 0.467 NULL NULL - no_errors FAM65B HGNC ENSG00000111913 66 25 27.47 67 0 0.00 FAM65C 140876 genome.wustl.edu 37 20 49226185 49226185 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 20 49226185 49226185 G A SNP FAM65C ENST00000535356 human ensembl 70_37 -1 known silent c.501 p.F167 0.946 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 19 21 52.50 19 0 0.00 FAM69A 388650 genome.wustl.edu 37 1 93309452 93309452 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 93309452 93309452 G A SNP FAM69A ENST00000370310 human ensembl 70_37 -1 known nonsense c.775 p.Q259* 1.000 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69A HGNC ENSG00000154511 16 20 54.05 41 0 0.00 FAM69A 388650 genome.wustl.edu 37 1 93309606 93309606 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 93309606 93309606 C T SNP FAM69A ENST00000370310 human ensembl 70_37 -1 known silent c.621 p.V207 0.985 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69A HGNC ENSG00000154511 12 17 58.62 33 0 0.00 FAM69C 125704 genome.wustl.edu 37 18 72114012 72114012 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 72114012 72114012 G A SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known silent c.705 p.L235 0.999 superfamily_Kinase-like_dom pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC ENSG00000187773 17 6 26.09 27 0 0.00 FAM69C 125704 genome.wustl.edu 37 18 72114129 72114129 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 18 72114129 72114129 G A SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known silent c.588 p.Y196 0.056 superfamily_Kinase-like_dom pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC ENSG00000187773 17 7 29.17 9 0 0.00 FAM69C 125704 genome.wustl.edu 37 18 72114391 72114391 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 72114391 72114391 C T SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known missense c.326 p.R109H 0.997 NULL pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC ENSG00000187773 35 14 28.57 48 0 0.00 TMEM255B 348013 genome.wustl.edu 37 13 114472664 114472664 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 114472664 114472664 C T SNP FAM70B ENST00000483678 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM70B HGNC ENSG00000184497 31 21 40.38 35 0 0.00 TMEM255B 348013 genome.wustl.edu 37 13 114498154 114498154 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 13 114498154 114498154 G A SNP FAM70B ENST00000375353 human ensembl 70_37 +1 known missense c.286 p.V96M 0.997 NULL NULL - no_errors FAM70B HGNC ENSG00000184497 30 17 36.17 58 0 0.00 TMEM255B 348013 genome.wustl.edu 37 13 114502863 114502863 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 114502863 114502863 C A SNP FAM70B ENST00000498692 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM70B HGNC ENSG00000184497 33 9 21.43 43 0 0.00 FAM71A 149647 genome.wustl.edu 37 1 212798889 212798889 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 212798889 212798889 C T SNP FAM71A ENST00000294829 human ensembl 70_37 +1 known missense c.670 p.L224F 0.995 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 64 51 44.35 102 1 0.96 FAM71A 149647 genome.wustl.edu 37 1 212799050 212799050 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 212799050 212799050 G T SNP FAM71A ENST00000294829 human ensembl 70_37 +1 known missense c.831 p.E277D 0.001 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 27 14 34.15 28 0 0.00 FAM71A 149647 genome.wustl.edu 37 1 212799758 212799758 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 212799758 212799758 G A SNP FAM71A ENST00000294829 human ensembl 70_37 +1 known nonsense c.1539 p.W513* 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 50 19 27.54 70 0 0.00 FAM71B 153745 genome.wustl.edu 37 5 156589475 156589475 + Frame_Shift_Del DEL C C - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 156589475 156589475 C - DEL FAM71B ENST00000302938 human ensembl 70_37 -1 known frame_shift_del c.1801 p.E601fs 0.998 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 39 14 26.42 66 0 0.00 FAM71B 153745 genome.wustl.edu 37 5 156589551 156589551 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 156589551 156589551 C G SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1725 p.E575D 0.991 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 45 21 31.34 101 0 0.00 FAM71B 153745 genome.wustl.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 156589943 156589943 G C SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1333 p.H445D 0.320 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 74 55 42.64 105 0 0.00 FAM71B 153745 genome.wustl.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 156589943 156589943 G C SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1333 p.H445D 0.320 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 29 8 21.62 29 0 0.00 FAM71B 153745 genome.wustl.edu 37 5 156590578 156590578 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 156590578 156590578 C G SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.698 p.G233A 0.955 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 129 22 14.57 198 0 0.00 FAM71C 196472 genome.wustl.edu 37 12 100042400 100042400 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 100042400 100042400 C G SNP FAM71C ENST00000324341 human ensembl 70_37 +1 known missense c.448 p.L150V 0.602 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 21 22 51.16 40 0 0.00 FAM71D 161142 genome.wustl.edu 37 14 67671768 67671768 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 67671768 67671768 G C SNP FAM71D ENST00000311864 human ensembl 70_37 +1 known missense c.874 p.E292Q 1.000 NULL pfam_DUF3699 - no_errors FAM71D HGNC ENSG00000172717 17 5 22.73 18 0 0.00 FAM71D 161142 genome.wustl.edu 37 14 67691851 67691851 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67691851 67691851 C G SNP FAM71D ENST00000311864 human ensembl 70_37 +1 known missense c.1206 p.I402M 0.003 NULL pfam_DUF3699 - no_errors FAM71D HGNC ENSG00000172717 10 8 44.44 18 0 0.00 FAM71E2 284418 genome.wustl.edu 37 19 55869633 55869633 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 55869633 55869633 G A SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.2603 p.T868I 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 35 34 49.28 62 0 0.00 FAM71E2 284418 genome.wustl.edu 37 19 55870057 55870057 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 55870057 55870057 G A SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.2179 p.P727S 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 49 29 37.18 71 0 0.00 FAM71E2 284418 genome.wustl.edu 37 19 55873665 55873665 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 55873665 55873665 G C SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.512 p.A171G 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 107 19 14.96 48 0 0.00 FAM71E2 284418 genome.wustl.edu 37 19 55873756 55873756 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55873756 55873756 C G SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.421 p.E141Q 0.506 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 36 6 14.29 47 0 0.00 FAM71F2 346653 genome.wustl.edu 37 7 128315720 128315720 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128315720 128315720 G A SNP FAM71F2 ENST00000480462 human ensembl 70_37 +1 known missense c.172 p.D58N 0.498 NULL pfam_DUF3699 - no_errors FAM71F2 HGNC ENSG00000205085 38 18 32.14 70 0 0.00 FAM73A 374986 genome.wustl.edu 37 1 78245381 78245381 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 78245381 78245381 C T SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known missense c.41 p.A14V 0.047 NULL pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 34 5 12.82 74 0 0.00 FAM73A 374986 genome.wustl.edu 37 1 78245408 78245408 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 78245408 78245408 G T SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known missense c.68 p.G23V 0.000 NULL pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 20 6 23.08 29 0 0.00 FAM73A 374986 genome.wustl.edu 37 1 78245408 78245408 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 78245408 78245408 G T SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known missense c.68 p.G23V 0.000 NULL pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 35 5 12.50 39 0 0.00 FAM73A 374986 genome.wustl.edu 37 1 78245412 78245412 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 78245412 78245412 G A SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known silent c.72 p.L24 0.169 NULL pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 28 9 24.32 22 0 0.00 FAM73B 84895 genome.wustl.edu 37 9 131804535 131804535 + RNA SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 9 131804535 131804535 G A SNP FAM73B ENST00000477088 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM73B HGNC ENSG00000148343 26 13 32.50 56 0 0.00 FAM73B 84895 genome.wustl.edu 37 9 131822885 131822885 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 131822885 131822885 G C SNP FAM73B ENST00000358369 human ensembl 70_37 +1 known missense c.850 p.E284Q 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 47 53 53.00 102 0 0.00 FAM73B 84895 genome.wustl.edu 37 9 131832688 131832688 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131832688 131832688 G A SNP FAM73B ENST00000358369 human ensembl 70_37 +1 known missense c.1738 p.G580R 0.996 NULL pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 17 11 39.29 34 0 0.00 FAM76B 143684 genome.wustl.edu 37 11 95521679 95521679 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 95521679 95521679 C G SNP FAM76B ENST00000358780 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 11 8 42.11 18 0 0.00 FAM78A 286336 genome.wustl.edu 37 9 134134488 134134488 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 134134488 134134488 G C SNP FAM78A ENST00000247295 human ensembl 70_37 -1 known rna NULL NULL 0.096 - - - no_errors FAM78A HGNC ENSG00000126882 30 29 49.15 56 0 0.00 FAM78A 286336 genome.wustl.edu 37 9 134134543 134134543 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 134134543 134134543 G C SNP FAM78A ENST00000247295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM78A HGNC ENSG00000126882 28 29 50.88 48 0 0.00 FAM78A 286336 genome.wustl.edu 37 9 134134559 134134559 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 134134559 134134559 C T SNP FAM78A ENST00000247295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM78A HGNC ENSG00000126882 23 24 51.06 54 0 0.00 FAM78B 149297 genome.wustl.edu 37 1 166039976 166039976 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 166039976 166039976 C G SNP FAM78B ENST00000338353 human ensembl 70_37 -1 known missense c.288 p.L96F 1.000 NULL NULL - no_errors FAM78B HGNC ENSG00000188859 18 15 45.45 15 0 0.00 FAM81B 153643 genome.wustl.edu 37 5 94727215 94727215 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 94727215 94727215 C T SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known missense c.122 p.S41L 0.995 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 28 8 22.22 46 0 0.00 FAM81B 153643 genome.wustl.edu 37 5 94728539 94728539 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 94728539 94728539 G C SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.000 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 32 12 27.27 61 0 0.00 FAM81B 153643 genome.wustl.edu 37 5 94764306 94764306 + Splice_Site SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 94764306 94764306 G C SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known splice_site c.657-1 e6-1 1.000 - - - no_errors FAM81B HGNC ENSG00000153347 17 9 34.62 25 0 0.00 RMDN2 151393 genome.wustl.edu 37 2 38208440 38208440 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 38208440 38208440 G A SNP FAM82A1 ENST00000234195 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL NULL - no_errors FAM82A1 HGNC ENSG00000115841 46 12 20.34 62 0 0.00 RMDN1 51115 genome.wustl.edu 37 8 87498804 87498804 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 87498804 87498804 G C SNP FAM82B ENST00000406452 human ensembl 70_37 -1 known nonsense c.404 p.S135* 0.989 NULL NULL - no_errors FAM82B HGNC ENSG00000176623 34 6 15.00 31 0 0.00 RMDN1 51115 genome.wustl.edu 37 8 87517501 87517501 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 87517501 87517501 C T SNP FAM82B ENST00000518772 human ensembl 70_37 -1 putative rna NULL NULL 0.019 - - - no_errors FAM82B HGNC ENSG00000176623 12 19 61.29 27 0 0.00 FAM83A 84985 genome.wustl.edu 37 8 124219598 124219598 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 124219598 124219598 C T SNP FAM83A ENST00000318462 human ensembl 70_37 +1 known silent c.975 p.S325 0.000 NULL pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 15 3 16.67 15 0 0.00 FAM83B 222584 genome.wustl.edu 37 6 54735070 54735070 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 54735070 54735070 C T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.26 p.S9L 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 92 41 30.83 159 0 0.00 FAM83B 222584 genome.wustl.edu 37 6 54804695 54804695 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 54804695 54804695 C T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.926 p.S309L 0.045 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 18 7 28.00 33 0 0.00 FAM83B 222584 genome.wustl.edu 37 6 54805040 54805040 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 54805040 54805040 G T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.1271 p.S424I 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 31 4 11.43 33 0 0.00 FAM83C 128876 genome.wustl.edu 37 20 33875238 33875238 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33875238 33875238 G A SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known silent c.1344 p.R448 0.000 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 29 15 34.09 61 0 0.00 FAM83C 128876 genome.wustl.edu 37 20 33875249 33875249 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33875249 33875249 G A SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known silent c.1333 p.L445 0.996 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 36 17 32.08 66 0 0.00 FAM83C 128876 genome.wustl.edu 37 20 33875489 33875489 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33875489 33875489 G C SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known missense c.1093 p.L365V 0.190 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 37 7 15.91 37 0 0.00 FAM83D 81610 genome.wustl.edu 37 20 37580927 37580927 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 37580927 37580927 C T SNP FAM83D ENST00000217429 human ensembl 70_37 +1 known missense c.1612 p.P538S 0.000 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 8 6 42.86 24 0 0.00 FAM83E 54854 genome.wustl.edu 37 19 49114031 49114031 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 19 49114031 49114031 C T SNP FAM83E ENST00000263266 human ensembl 70_37 -1 known missense c.539 p.R180H 1.000 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 24 10 29.41 49 0 0.00 FAM83E 54854 genome.wustl.edu 37 19 49116504 49116504 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49116504 49116504 G A SNP FAM83E ENST00000263266 human ensembl 70_37 -1 known silent c.126 p.G42 0.000 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 51 7 12.07 54 0 0.00 FAM83G 644815 genome.wustl.edu 37 17 18882047 18882047 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 18882047 18882047 C G SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known missense c.932 p.S311T 1.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 27 14 32.56 41 0 0.00 FAM83G 644815 genome.wustl.edu 37 17 18882969 18882969 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 18882969 18882969 G T SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known missense c.708 p.S236R 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 26 4 13.33 22 0 0.00 FAM83G 644815 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 29 16 35.56 71 0 0.00 FAM83G 644815 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 37 18 32.73 67 0 0.00 FAM83H 286077 genome.wustl.edu 37 8 144811394 144811394 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 144811394 144811394 C T SNP FAM83H ENST00000388913 human ensembl 70_37 -1 known missense c.547 p.E183K 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 35 7 16.67 39 0 0.00 FAM84A 151354 genome.wustl.edu 37 2 14774273 14774273 + Frame_Shift_Del DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 14774273 14774273 C - DEL FAM84A ENST00000295092 human ensembl 70_37 +1 known frame_shift_del c.170 p.P59fs 0.532 NULL pfam_LRAT-like_dom - no_errors FAM84A HGNC ENSG00000162981 47 9 16.07 73 0 0.00 FAM84B 157638 genome.wustl.edu 37 8 127569296 127569296 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 127569296 127569296 G C SNP FAM84B ENST00000304916 human ensembl 70_37 -1 known silent c.339 p.L113 1.000 NULL pfam_LRAT-like_dom - no_errors FAM84B HGNC ENSG00000168672 52 13 20.00 44 0 0.00 FAM86B1 85002 genome.wustl.edu 37 8 12040405 12040405 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 12040405 12040405 G C SNP FAM86B1 ENST00000529146 human ensembl 70_37 -1 known rna NULL NULL 0.100 - - - no_errors FAM86B1 HGNC ENSG00000186523 11 10 47.62 30 0 0.00 FAM86B1 85002 genome.wustl.edu 37 8 12041095 12041095 + RNA SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 12041095 12041095 T G SNP FAM86B1 ENST00000524484 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86B1 HGNC ENSG00000186523 4 3 42.86 9 0 0.00 FAM86B2 653333 genome.wustl.edu 37 8 12286158 12286158 + Missense_Mutation SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 12286158 12286158 A T SNP FAM86B2 ENST00000262365 human ensembl 70_37 -1 known missense c.726 p.D242E 0.361 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 63 18 22.22 13 0 0.00 FAM86B3P 286042 genome.wustl.edu 37 8 8092035 8092035 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 8092035 8092035 G C SNP FAM86B3P ENST00000522601 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM86B3P HGNC ENSG00000173295 89 54 37.76 146 0 0.00 FAM86B3P 286042 genome.wustl.edu 37 8 8092043 8092043 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 8092043 8092043 C T SNP FAM86B3P ENST00000522601 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors FAM86B3P HGNC ENSG00000173295 146 27 15.61 180 0 0.00 FAM86B3P 286042 genome.wustl.edu 37 8 8095990 8095990 + RNA SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 8095990 8095990 C G SNP FAM86B3P ENST00000590591 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FAM86B3P HGNC ENSG00000173295 30 7 18.92 41 0 0.00 FAM86C1 55199 genome.wustl.edu 37 11 71504429 71504429 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 71504429 71504429 G A SNP FAM86C1 ENST00000359244 human ensembl 70_37 +1 known missense c.163 p.E55K 1.000 NULL NULL - no_errors FAM86C1 HGNC ENSG00000158483 207 46 18.18 178 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67559472 67559472 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67559472 67559472 G A SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC ENSG00000160172 12 4 25.00 20 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67559472 67559472 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 67559472 67559472 G T SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC ENSG00000160172 26 8 23.53 28 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67560476 67560476 + RNA SNP A A G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 67560476 67560476 A G SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors FAM86C2P HGNC ENSG00000160172 33 4 10.81 52 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67560655 67560655 + RNA SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 11 67560655 67560655 A G SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC ENSG00000160172 21 6 22.22 57 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67564194 67564194 + RNA SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 11 67564194 67564194 A G SNP FAM86C2P ENST00000525180 human ensembl 70_37 -1 known rna NULL NULL 0.689 - - - no_errors FAM86C2P HGNC ENSG00000160172 16 6 27.27 44 0 0.00 FAM86C2P 645332 genome.wustl.edu 37 11 67570507 67570507 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67570507 67570507 G C SNP FAM86C2P ENST00000525180 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors FAM86C2P HGNC ENSG00000160172 118 45 27.61 130 0 0.00 FAM86DP 692099 genome.wustl.edu 37 3 75472072 75472072 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 75472072 75472072 G A SNP FAM86DP ENST00000459803 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 152 60 28.17 189 0 0.00 FAM86EP 348926 genome.wustl.edu 37 4 3944218 3944218 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 3944218 3944218 G A SNP FAM86EP ENST00000313946 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors FAM86EP HGNC ENSG00000251669 42 23 35.38 77 0 0.00 FAM86EP 348926 genome.wustl.edu 37 4 3949518 3949518 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3949518 3949518 C T SNP FAM86EP ENST00000313946 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors FAM86EP HGNC ENSG00000251669 56 9 13.85 78 0 0.00 FAM86HP 729375 genome.wustl.edu 37 3 129818005 129818005 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 129818005 129818005 C G SNP FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.011 - - - no_errors FAM86HP HGNC ENSG00000253540 161 24 12.97 119 0 0.00 FAM86HP 729375 genome.wustl.edu 37 3 129818006 129818006 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 129818006 129818006 C T SNP FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.006 - - - no_errors FAM86HP HGNC ENSG00000253540 42 19 31.15 33 0 0.00 FAM86HP 729375 genome.wustl.edu 37 3 129818153 129818153 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 129818153 129818153 A - DEL FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.428 - - - no_errors FAM86HP HGNC ENSG00000253540 372 62 14.29 458 0 0.00 FAM86JP 100125556 genome.wustl.edu 37 3 125635572 125635572 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 125635572 125635572 G C SNP FAM86JP ENST00000485843 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors FAM86JP HGNC ENSG00000171084 32 10 23.81 31 0 0.00 FAM86JP 100125556 genome.wustl.edu 37 3 125635577 125635577 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 125635577 125635577 G A SNP FAM86JP ENST00000485843 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM86JP HGNC ENSG00000171084 40 17 29.82 29 0 0.00 FAM86JP 100125556 genome.wustl.edu 37 3 125647512 125647512 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 125647512 125647512 T G SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FAM86JP HGNC ENSG00000171084 187 26 12.21 205 0 0.00 FAM86JP 100125556 genome.wustl.edu 37 3 125647651 125647651 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 125647651 125647651 A C SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM86JP HGNC ENSG00000171084 41 21 33.87 60 0 0.00 FAM86JP 100125556 genome.wustl.edu 37 3 125648495 125648495 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 125648495 125648495 G A SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM86JP HGNC ENSG00000171084 57 27 32.14 61 0 0.00 FAM90A1 55138 genome.wustl.edu 37 12 8377332 8377332 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 8377332 8377332 G A SNP FAM90A1 ENST00000307435 human ensembl 70_37 -1 known missense c.97 p.P33S 0.012 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 19 3 13.64 19 0 0.00 FAM90A24P 441332 genome.wustl.edu 37 8 7878260 7878260 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 7878260 7878260 G C SNP FAM90A24P ENST00000521100 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM90A24P HGNC ENSG00000215354 70 26 27.08 82 0 0.00 FAM90A27P 646508 genome.wustl.edu 37 19 53787417 53787417 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 53787417 53787417 T A SNP FAM90A27P ENST00000599085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM90A27P HGNC ENSG00000189348 66 83 55.70 93 0 0.00 FAM90A27P 646508 genome.wustl.edu 37 19 53787462 53787462 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 53787462 53787462 C T SNP FAM90A27P ENST00000599085 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM90A27P HGNC ENSG00000189348 58 21 26.58 35 0 0.00 FAM91A1 157769 genome.wustl.edu 37 8 124797868 124797868 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 124797868 124797868 G A SNP FAM91A1 ENST00000334705 human ensembl 70_37 +1 known splice_site c.850-1 e11-1 1.000 - - - no_errors FAM91A1 HGNC ENSG00000176853 34 37 52.11 37 0 0.00 FAM91A1 157769 genome.wustl.edu 37 8 124824814 124824814 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124824814 124824814 C T SNP FAM91A1 ENST00000334705 human ensembl 70_37 +1 known missense c.2387 p.S796L 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 51 15 22.73 58 0 0.00 FAM92A1 137392 genome.wustl.edu 37 8 94740501 94740503 + In_Frame_Del DEL AGA AGA - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 94740501 94740503 AGA - DEL FAM92A1 ENST00000518322 human ensembl 70_37 +1 known in_frame_del c.846_848 p.E285in_frame_del 1.000:1.000:1.000 NULL pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 12 4 25.00 8 0 0.00 FAM92A1P2 403315 genome.wustl.edu 37 4 183959690 183959691 + RNA INS - - A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 4 183959690 183959691 - A INS FAM92A1P2 ENST00000502308 human ensembl 70_37 +1 known rna NULL NULL 0.071:0.079 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 2 3 60.00 9 0 0.00 FAM92B 339145 genome.wustl.edu 37 16 85135832 85135832 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 85135832 85135832 C G SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.639 p.E213D 0.059 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 4 16 80.00 28 0 0.00 FAM92B 339145 genome.wustl.edu 37 16 85143960 85143960 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 85143960 85143960 G A SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.127 p.R43W 0.996 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 33 7 17.50 25 0 0.00 FAM92B 339145 genome.wustl.edu 37 16 85143960 85143960 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 85143960 85143960 G A SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.127 p.R43W 0.996 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 79 18 18.56 72 0 0.00 FAM96A 84191 genome.wustl.edu 37 15 64367720 64367720 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 64367720 64367720 G C SNP FAM96A ENST00000300030 human ensembl 70_37 -1 known missense c.356 p.S119C 1.000 NULL pfam_DUF59 - no_errors FAM96A HGNC ENSG00000166797 37 19 33.93 48 0 0.00 FAM96A 84191 genome.wustl.edu 37 15 64385878 64385878 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 64385878 64385878 G A SNP FAM96A ENST00000300030 human ensembl 70_37 -1 known silent c.90 p.P30 1.000 NULL pfam_DUF59 - no_errors FAM96A HGNC ENSG00000166797 39 23 36.51 41 0 0.00 FAM96B 51647 genome.wustl.edu 37 16 66966114 66966114 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 66966114 66966114 G A SNP FAM96B ENST00000422424 human ensembl 70_37 -1 known missense c.484 p.R162C 0.980 NULL pfam_DUF59 - no_errors FAM96B HGNC ENSG00000166595 23 10 30.30 38 0 0.00 FAM96B 51647 genome.wustl.edu 37 16 66967633 66967633 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 66967633 66967633 G T SNP FAM96B ENST00000422424 human ensembl 70_37 -1 known missense c.232 p.P78T 0.888 pfam_DUF59 pfam_DUF59 - no_errors FAM96B HGNC ENSG00000166595 29 4 12.12 27 0 0.00 FAM98A 25940 genome.wustl.edu 37 2 33810301 33810301 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 33810301 33810301 C T SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known missense c.1099 p.D367N 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 56 37 39.78 88 0 0.00 FAM98A 25940 genome.wustl.edu 37 2 33813412 33813412 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 2 33813412 33813412 A G SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known missense c.512 p.I171T 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 81 20 19.80 77 0 0.00 FAM98A 25940 genome.wustl.edu 37 2 33820590 33820590 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 33820590 33820590 G A SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 34 14 29.17 39 0 0.00 FAM98C 147965 genome.wustl.edu 37 19 38897559 38897559 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 38897559 38897559 G A SNP FAM98C ENST00000252530 human ensembl 70_37 +1 known missense c.760 p.E254K 0.208 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 24 4 14.29 22 0 0.00 FAM98C 147965 genome.wustl.edu 37 19 38899501 38899502 + In_Frame_Ins INS - - AAG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 38899501 38899502 - AAG INS FAM98C ENST00000252530 human ensembl 70_37 +1 known in_frame_ins c.1029_1030 p.347in_frame_insK 0.117:0.830 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 27 6 18.18 54 0 0.00 FAM9A 171482 genome.wustl.edu 37 X 8761788 8761788 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 8761788 8761788 G C SNP FAM9A ENST00000381003 human ensembl 70_37 -1 known missense c.841 p.Q281E 0.003 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 30 15 33.33 27 0 0.00 FAM9A 171482 genome.wustl.edu 37 X 8764329 8764329 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 8764329 8764329 C G SNP FAM9A ENST00000381003 human ensembl 70_37 -1 known missense c.468 p.L156F 0.004 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 48 29 36.71 82 0 0.00 FAM9B 171483 genome.wustl.edu 37 X 8995967 8995967 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 8995967 8995967 C T SNP FAM9B ENST00000327220 human ensembl 70_37 -1 known missense c.434 p.R145K 0.002 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 82 23 21.90 34 0 0.00 FAM9C 171484 genome.wustl.edu 37 X 13061280 13061280 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 13061280 13061280 C T SNP FAM9C ENST00000333995 human ensembl 70_37 -1 known missense c.149 p.R50K 0.006 NULL pfam_Cor1/Xlr/Xmr - no_errors FAM9C HGNC ENSG00000187268 78 22 22.00 97 0 0.00 FAN1 22909 genome.wustl.edu 37 15 31197287 31197287 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 31197287 31197287 G A SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.421 p.E141K 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 51 11 17.46 54 0 0.00 FAN1 22909 genome.wustl.edu 37 15 31197561 31197561 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 31197561 31197561 G A SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.695 p.R232K 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 58 26 30.95 88 0 0.00 FAN1 22909 genome.wustl.edu 37 15 31197563 31197563 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 31197563 31197563 G T SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known nonsense c.697 p.G233* 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 16 13 44.83 33 0 0.00 FAN1 22909 genome.wustl.edu 37 15 31221463 31221463 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 31221463 31221463 G C SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.2650 p.E884Q 0.999 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 34 16 32.00 35 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89805325 89805325 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 89805325 89805325 G A SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.4225 p.R1409W 0.243 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 100 36 26.47 130 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89806408 89806408 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89806408 89806408 C G SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.3928 p.E1310Q 0.354 pfam_Fanconia,prints_Fanconia pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 26 21 44.68 74 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89849269 89849269 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 89849269 89849269 C A SNP FANCA ENST00000389301 human ensembl 70_37 -1 known nonsense c.1624 p.E542* 0.306 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 14 10 41.67 15 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89849303 89849303 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 89849303 89849303 G C SNP FANCA ENST00000389301 human ensembl 70_37 -1 known silent c.1590 p.L530 0.851 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 14 10 41.67 28 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89865582 89865582 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 89865582 89865582 C T SNP FANCA ENST00000389301 human ensembl 70_37 -1 known silent c.885 p.V295 0.001 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 22 5 18.52 12 0 0.00 FANCA 2175 genome.wustl.edu 37 16 89882319 89882319 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 89882319 89882319 C G SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.155 p.R52P 0.488 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 100 17 14.53 131 0 0.00 FANCB 2187 genome.wustl.edu 37 X 14862067 14862067 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 14862067 14862067 G C SNP FANCB ENST00000324138 human ensembl 70_37 -1 known silent c.2202 p.L734 0.489 NULL NULL - no_errors FANCB HGNC ENSG00000181544 44 11 20.00 50 0 0.00 FANCB 2187 genome.wustl.edu 37 X 14863135 14863135 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 14863135 14863135 G A SNP FANCB ENST00000324138 human ensembl 70_37 -1 known silent c.1770 p.F590 0.001 NULL NULL - no_errors FANCB HGNC ENSG00000181544 34 7 17.07 41 0 0.00 FANCB 2187 genome.wustl.edu 37 X 14863270 14863270 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 14863270 14863270 T C SNP FANCB ENST00000324138 human ensembl 70_37 -1 known missense c.1635 p.I545M 0.051 NULL NULL - no_errors FANCB HGNC ENSG00000181544 40 10 20.00 65 0 0.00 FANCB 2187 genome.wustl.edu 37 X 14883161 14883161 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 14883161 14883161 C T SNP FANCB ENST00000324138 human ensembl 70_37 -1 known missense c.472 p.G158S 0.001 NULL NULL - no_errors FANCB HGNC ENSG00000181544 63 10 13.70 62 0 0.00 FANCC 2176 genome.wustl.edu 37 9 98009763 98009763 + Silent SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 98009763 98009763 A G SNP FANCC ENST00000289081 human ensembl 70_37 -1 known silent c.201 p.I67 1.000 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 17 22 56.41 17 0 0.00 FANCD2 2177 genome.wustl.edu 37 3 10074515 10074515 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 10074515 10074515 G C SNP FANCD2 ENST00000287647 human ensembl 70_37 +1 known splice_site c.65-1 e2-1 0.361 - - - no_errors FANCD2 HGNC ENSG00000144554 38 27 40.91 60 0 0.00 FANCD2 2177 genome.wustl.edu 37 3 10107104 10107104 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 10107104 10107104 C T SNP FANCD2 ENST00000287647 human ensembl 70_37 +1 known missense c.2195 p.P732L 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 50 31 38.27 96 0 0.00 FANCD2 2177 genome.wustl.edu 37 3 10142946 10142946 + Nonstop_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 10142946 10142946 G C SNP FANCD2 ENST00000383807 human ensembl 70_37 +1 known nonstop c.4356 p.*1452Y 0.744 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 19 37 66.07 73 0 0.00 FANCD2OS 115795 genome.wustl.edu 37 3 10146175 10146175 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 10146175 10146175 C T SNP FANCD2OS ENST00000450660 human ensembl 70_37 -1 known missense c.284 p.R95H 1.000 NULL NULL - no_errors FANCD2OS HGNC ENSG00000163705 53 12 18.46 123 1 0.81 FANCF 2188 genome.wustl.edu 37 11 22647304 22647304 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 22647304 22647304 G A SNP FANCF ENST00000327470 human ensembl 70_37 -1 known missense c.53 p.S18L 0.804 NULL NULL - no_errors FANCF HGNC ENSG00000183161 47 15 24.19 87 0 0.00 FANCG 2189 genome.wustl.edu 37 9 35078671 35078671 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 35078671 35078671 G C SNP FANCG ENST00000378643 human ensembl 70_37 -1 known missense c.238 p.L80V 0.938 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 47 14 22.95 57 0 0.00 FANCI 55215 genome.wustl.edu 37 15 89807819 89807819 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 89807819 89807819 G C SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.736 p.E246Q 0.972 NULL NULL - no_errors FANCI HGNC ENSG00000140525 21 5 19.23 14 0 0.00 FANCI 55215 genome.wustl.edu 37 15 89816662 89816662 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89816662 89816662 C T SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.937 p.L313F 0.995 NULL NULL - no_errors FANCI HGNC ENSG00000140525 97 22 18.49 43 0 0.00 FANCI 55215 genome.wustl.edu 37 15 89825022 89825022 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 89825022 89825022 G C SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.1539 p.M513I 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 125 19 13.19 160 0 0.00 FANCL 55120 genome.wustl.edu 37 2 58388716 58388716 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 58388716 58388716 C T SNP FANCL ENST00000233741 human ensembl 70_37 -1 known missense c.961 p.D321N 1.000 NULL pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 56 20 25.97 117 0 0.00 FANCL 55120 genome.wustl.edu 37 2 58390039 58390039 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 58390039 58390039 C G SNP FANCL ENST00000233741 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 pfam_FancL_WD-rpt_cont_dom pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 10 5 33.33 35 0 0.00 FANCM 57697 genome.wustl.edu 37 14 45620690 45620690 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 45620690 45620690 G T SNP FANCM ENST00000267430 human ensembl 70_37 +1 known missense c.1009 p.A337S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 18 3 14.29 29 0 0.00 FANCM 57697 genome.wustl.edu 37 14 45623980 45623980 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 45623980 45623980 C T SNP FANCM ENST00000267430 human ensembl 70_37 +1 known missense c.1264 p.R422C 0.674 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 23 27 54.00 36 0 0.00 FANK1 92565 genome.wustl.edu 37 10 127693572 127693572 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 127693572 127693572 G A SNP FANK1 ENST00000368693 human ensembl 70_37 +1 known missense c.659 p.G220E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 121 48 28.40 198 0 0.00 FAP 2191 genome.wustl.edu 37 2 163031423 163031423 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 163031423 163031423 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.1923 p.F641 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 46 24 34.29 73 0 0.00 FAP 2191 genome.wustl.edu 37 2 163045640 163045640 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 163045640 163045640 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known missense c.1592 p.S531L 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 53 15 22.06 70 0 0.00 FAP 2191 genome.wustl.edu 37 2 163051248 163051248 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 163051248 163051248 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.1413 p.I471 0.980 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 25 33 56.90 92 0 0.00 FAP 2191 genome.wustl.edu 37 2 163070562 163070562 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 163070562 163070562 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.888 p.L296 0.951 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 32 9 21.95 23 0 0.00 FAR2 55711 genome.wustl.edu 37 12 29449988 29449988 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 29449988 29449988 C T SNP FAR2 ENST00000182377 human ensembl 70_37 +1 known nonsense c.400 p.Q134* 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 23 4 14.81 23 0 0.00 FARP1 10160 genome.wustl.edu 37 13 98996094 98996094 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 98996094 98996094 G C SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.250 p.E84Q 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 40 13 24.53 61 0 0.00 FARP1 10160 genome.wustl.edu 37 13 99037958 99037958 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 99037958 99037958 G C SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.649 p.E217Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 17 11 39.29 28 0 0.00 FARP1 10160 genome.wustl.edu 37 13 99047520 99047520 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 99047520 99047520 G A SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.1204 p.E402K 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 45 15 25.00 68 0 0.00 FARP1 10160 genome.wustl.edu 37 13 99083327 99083327 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99083327 99083327 G A SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.1936 p.E646K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 36 17 32.08 32 0 0.00 FARP1 10160 genome.wustl.edu 37 13 99101831 99101831 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99101831 99101831 C T SNP FARP1 ENST00000597596 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors FARP1 HGNC ENSG00000152767 34 10 22.73 43 0 0.00 FARP2 9855 genome.wustl.edu 37 2 242350463 242350463 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 242350463 242350463 G A SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known silent c.426 p.L142 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 21 5 19.23 47 0 0.00 FARP2 9855 genome.wustl.edu 37 2 242407698 242407698 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 242407698 242407698 G A SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known silent c.2037 p.L679 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 40 10 20.00 48 0 0.00 FARP2 9855 genome.wustl.edu 37 2 242430486 242430486 + Nonsense_Mutation SNP G G T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 242430486 242430486 G T SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known nonsense c.2515 p.E839* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 28 4 12.50 46 0 0.00 FARP2 9855 genome.wustl.edu 37 2 242430536 242430536 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242430536 242430536 G C SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known missense c.2565 p.K855N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 8 20 71.43 62 0 0.00 FARP2 9855 genome.wustl.edu 37 2 242430942 242430942 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 242430942 242430942 G C SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known missense c.2635 p.E879Q 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 44 15 25.42 51 0 0.00 FARS2 10667 genome.wustl.edu 37 6 5368821 5368821 + Silent SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 5368821 5368821 C G SNP FARS2 ENST00000274680 human ensembl 70_37 +1 known silent c.18 p.L6 0.002 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 14 12 46.15 24 0 0.00 FARS2 10667 genome.wustl.edu 37 6 5613479 5613479 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 5613479 5613479 C G SNP FARS2 ENST00000274680 human ensembl 70_37 +1 known missense c.1143 p.F381L 1.000 pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 24 3 11.11 42 0 0.00 FARSA 2193 genome.wustl.edu 37 19 13033634 13033634 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13033634 13033634 C T SNP FARSA ENST00000314606 human ensembl 70_37 -1 known silent c.1455 p.Q485 1.000 pfscan_aa-tRNA-synth_II pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 45 24 34.78 63 0 0.00 FAS 355 genome.wustl.edu 37 10 90771815 90771815 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 90771815 90771815 C T SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.628 p.H210Y 0.000 NULL pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 17 6 26.09 30 0 0.00 FAS 355 genome.wustl.edu 37 10 90773980 90773980 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 90773980 90773980 G A SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 49 6 10.91 62 0 0.00 FAS 355 genome.wustl.edu 37 10 90773980 90773980 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 90773980 90773980 G A SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 17 5 21.74 30 0 0.00 FAS 355 genome.wustl.edu 37 10 90773992 90773992 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 90773992 90773992 G C SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.793 p.D265H 0.491 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 24 12 32.43 27 0 0.00 FAS 355 genome.wustl.edu 37 10 90774013 90774013 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 90774013 90774013 G C SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 62 24 27.59 57 0 0.00 FASLG 356 genome.wustl.edu 37 1 172635076 172635076 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 172635076 172635076 C T SNP FASLG ENST00000367721 human ensembl 70_37 +1 known missense c.766 p.H256Y 0.030 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 242 29 10.66 188 0 0.00 FASN 2194 genome.wustl.edu 37 17 80038078 80038078 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 80038078 80038078 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.7084 p.E2362K 1.000 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 133 50 27.32 204 0 0.00 FASN 2194 genome.wustl.edu 37 17 80040794 80040794 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80040794 80040794 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.5763 p.R1921 0.853 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 22 8 26.67 29 0 0.00 FASN 2194 genome.wustl.edu 37 17 80040815 80040815 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80040815 80040815 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.5742 p.L1914 1.000 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 17 10 35.71 44 0 0.00 FASN 2194 genome.wustl.edu 37 17 80041246 80041246 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 80041246 80041246 G C SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.5397 p.F1799L 0.992 pfam_ADH_C,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 67 30 30.93 67 0 0.00 FASN 2194 genome.wustl.edu 37 17 80041486 80041486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80041486 80041486 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.5248 p.E1750K 1.000 pfam_ADH_C,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 42 15 26.32 50 0 0.00 FASN 2194 genome.wustl.edu 37 17 80042558 80042558 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80042558 80042558 C G SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.4599 p.V1533 0.965 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 59 28 32.18 57 0 0.00 FASN 2194 genome.wustl.edu 37 17 80042681 80042681 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 80042681 80042681 C G SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.4558 p.E1520Q 0.011 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 49 31 38.27 92 0 0.00 FASN 2194 genome.wustl.edu 37 17 80043493 80043493 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80043493 80043493 G C SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.3987 p.L1329 0.008 pfam_Methyltransf_12,pfam_Methyltransf_11 pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 71 14 16.28 64 0 0.00 FASTK 10922 genome.wustl.edu 37 7 150774001 150774001 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 150774001 150774001 G A SNP FASTK ENST00000297532 human ensembl 70_37 -1 known missense c.1541 p.P514L 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 18 12 40.00 49 0 0.00 FASTKD1 79675 genome.wustl.edu 37 2 170394627 170394627 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170394627 170394627 C G SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.1970 p.R657T 0.009 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 42 21 33.33 36 0 0.00 FASTKD1 79675 genome.wustl.edu 37 2 170396650 170396650 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170396650 170396650 G C SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.1856 p.S619C 0.112 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 53 9 14.52 85 0 0.00 FASTKD1 79675 genome.wustl.edu 37 2 170411698 170411698 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170411698 170411698 C A SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known nonsense c.1150 p.E384* 0.391 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 19 13 40.62 90 0 0.00 FASTKD1 79675 genome.wustl.edu 37 2 170428398 170428398 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 170428398 170428398 C G SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.142 p.D48H 0.990 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 36 12 25.00 34 0 0.00 FASTKD3 79072 genome.wustl.edu 37 5 7866836 7866836 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 7866836 7866836 G A SNP FASTKD3 ENST00000264669 human ensembl 70_37 -1 known missense c.1361 p.S454L 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 21 17 44.74 37 0 0.00 FASTKD3 79072 genome.wustl.edu 37 5 7867647 7867647 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 7867647 7867647 C T SNP FASTKD3 ENST00000264669 human ensembl 70_37 -1 known missense c.550 p.A184T 0.993 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 22 5 18.52 31 0 0.00 FASTKD5 60493 genome.wustl.edu 37 20 3128327 3128327 + Nonsense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 20 3128327 3128327 C A SNP FASTKD5 ENST00000380266 human ensembl 70_37 -1 known nonsense c.1390 p.E464* 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 30 4 11.76 47 0 0.00 FASTKD5 60493 genome.wustl.edu 37 20 3129658 3129658 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 3129658 3129658 G A SNP FASTKD5 ENST00000380266 human ensembl 70_37 -1 known missense c.59 p.S20F 0.028 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 61 26 29.89 70 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187516863 187516863 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 187516863 187516863 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.13118 p.S4373F 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 23 14 37.84 47 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187525001 187525001 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 187525001 187525001 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.10679 p.S3560* 0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 11 19 63.33 46 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187527264 187527264 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 187527264 187527264 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.10310 p.A3437V 0.891 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 53 6 10.17 89 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187527311 187527311 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 187527311 187527311 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.10263 p.V3421 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 32 13 28.89 45 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187527350 187527350 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 187527350 187527350 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.10224 p.L3408 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 33 13 28.26 56 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187531024 187531025 + Frame_Shift_Del DEL AG AG - TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 187531024 187531025 AG - DEL FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_del c.9999_9998 p.P3333fs 0.024:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 115 45 28.12 101 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187540003 187540003 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 187540003 187540003 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.7737 p.F2579 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 48 12 20.00 54 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187540216 187540217 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187540216 187540217 - T INS FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_ins c.7524_7523 p.H2508fs 0.226:0.788 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 305 116 27.55 495 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187540216 187540217 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187540216 187540217 - T INS FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_ins c.7524_7523 p.H2508fs 0.226:0.788 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 36 22 37.93 38 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 4 187540391 187540391 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.7349 p.S2450* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 18 7 28.00 33 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187542656 187542656 + Nonsense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 187542656 187542656 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.5084 p.S1695* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 44 8 15.38 35 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187554882 187554882 + Frame_Shift_Del DEL G G - TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 187554882 187554882 G - DEL FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_del c.4279 p.L1427fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 42 24 36.36 81 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187628227 187628227 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 187628227 187628227 C T SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.2755 p.D919N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 41 9 18.00 47 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187629360 187629360 + Nonsense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187629360 187629360 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.1622 p.S541* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 35 21 37.50 40 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187629360 187629360 + Nonsense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187629360 187629360 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.1622 p.S541* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 66 39 37.14 93 0 0.00 FAT1 2195 genome.wustl.edu 37 4 187629805 187629805 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 187629805 187629805 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.1177 p.P393S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC ENSG00000083857 49 19 27.94 60 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150887058 150887058 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 150887058 150887058 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.12174 p.F4058L 0.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 24 34 58.62 82 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150889679 150889679 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 150889679 150889679 C G SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.11962 p.E3988Q 0.104 smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 57 11 16.18 52 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150892005 150892005 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150892005 150892005 G T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.11626 p.L3876I 0.353 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 175 46 20.81 236 1 0.42 FAT2 2196 genome.wustl.edu 37 5 150914120 150914120 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 150914120 150914120 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.9277 p.R3093* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 37 10 21.28 47 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150920207 150920207 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 150920207 150920207 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.8960 p.S2987C 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 57 58 50.43 62 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150923212 150923212 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150923212 150923212 C T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known silent c.7476 p.E2492 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 9 9 50.00 30 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150928860 150928860 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 150928860 150928860 C T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known silent c.4785 p.L1595 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 15 7 31.82 39 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150931047 150931047 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 150931047 150931047 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.4277 p.S1426F 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 32 21 39.62 48 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150932740 150932740 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150932740 150932740 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.4154 p.S1385* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 129 44 25.43 161 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150932740 150932740 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150932740 150932740 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.4154 p.S1385* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 42 25 37.31 56 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150942963 150942963 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150942963 150942963 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.3497 p.S1166C 0.395 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 36 17 32.08 56 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150946710 150946710 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 150946710 150946710 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.1783 p.Q595* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 55 9 14.06 44 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150946976 150946976 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 150946976 150946976 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1517 p.S506F 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 34 10 22.73 48 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150947186 150947186 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150947186 150947186 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1307 p.S436L 0.266 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 169 32 15.92 218 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150947186 150947186 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 150947186 150947186 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.1307 p.S436* 0.266 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 25 25 50.00 62 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150947427 150947427 + Missense_Mutation SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 150947427 150947427 T G SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1066 p.K356Q 0.003 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 15 5 25.00 33 0 0.00 FAT2 2196 genome.wustl.edu 37 5 150947811 150947811 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 150947811 150947811 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.682 p.R228W 0.973 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 29 26 47.27 61 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92085579 92085579 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 92085579 92085579 G T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.301 p.D101Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 17 3 15.00 56 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92085607 92085607 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 92085607 92085607 A C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.329 p.K110T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 16 6 27.27 33 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92086050 92086050 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92086050 92086050 C T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.772 p.R258C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 45 6 11.76 28 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92087080 92087080 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 92087080 92087080 C T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.1802 p.S601L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 16 4 20.00 27 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92087287 92087287 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 92087287 92087287 C A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known nonsense c.2009 p.S670* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 14 4 22.22 26 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92087928 92087928 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92087928 92087928 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.2650 p.G884R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 27 7 20.59 28 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92088452 92088452 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92088452 92088452 T C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known silent c.3174 p.I1058 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 46 7 13.21 31 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92088452 92088452 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92088452 92088452 T C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known silent c.3174 p.I1058 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 47 18 27.69 99 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92532414 92532414 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 11 92532414 92532414 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.6235 p.D2079N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 45 9 16.67 48 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92532507 92532507 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92532507 92532507 G T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.6328 p.D2110Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 54 10 15.62 42 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92534124 92534124 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 92534124 92534124 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.7945 p.D2649N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 12 6 33.33 18 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92539659 92539659 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 92539659 92539659 A C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.9225 p.E3075D 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 32 4 11.11 59 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92573854 92573854 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 92573854 92573854 C T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.10495 p.P3499S 0.020 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 61 22 26.51 63 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92615956 92615956 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 92615956 92615956 T A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.12334 p.S4112T 0.466 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 32 18 36.00 47 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92616455 92616455 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 92616455 92616455 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.12833 p.R4278Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 21 13 38.24 44 0 0.00 FAT3 120114 genome.wustl.edu 37 11 92624271 92624271 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 92624271 92624271 C G SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.13762 p.Q4588E 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 18 18 50.00 35 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126238993 126238993 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 126238993 126238993 C G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known nonsense c.1427 p.S476* 0.080 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 52 7 11.86 56 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126241223 126241223 + Silent SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 126241223 126241223 A T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.3657 p.I1219 0.995 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 18 9 33.33 29 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126241227 126241227 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 126241227 126241227 G C SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.3661 p.E1221Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 20 9 31.03 18 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126337605 126337605 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 126337605 126337605 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.6846 p.V2282 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 31 22 41.51 55 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126369744 126369744 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 4 126369744 126369744 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.7573 p.A2525T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 23 15 39.47 29 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126369917 126369917 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 4 126369917 126369917 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.7746 p.V2582 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 27 4 12.90 28 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126371183 126371183 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 126371183 126371183 A T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.9012 p.R3004S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 57 11 15.94 72 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126371575 126371575 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 126371575 126371575 G T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.9404 p.G3135V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 9 19 67.86 49 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126372317 126372317 + Silent SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 126372317 126372317 A G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.10146 p.R3382 0.038 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 19 8 29.63 14 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126373266 126373266 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126373266 126373266 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.11095 p.V3699I 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 53 7 11.67 97 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126373322 126373322 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126373322 126373322 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.11151 p.L3717 0.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 46 34 42.50 94 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126398366 126398366 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 126398366 126398366 C A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.12350 p.P4117Q 0.986 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 206 83 28.72 263 1 0.38 FAT4 79633 genome.wustl.edu 37 4 126408558 126408558 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126408558 126408558 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.12875 p.R4292K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 11 4 26.67 35 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126408724 126408724 + Silent SNP A A G TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 4 126408724 126408724 A G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.13041 p.G4347 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 11 9 45.00 32 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126411397 126411397 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 126411397 126411397 C G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.13420 p.P4474A 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 83 23 21.70 139 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126411466 126411466 + Nonsense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 126411466 126411466 G T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known nonsense c.13489 p.E4497* 0.996 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 32 4 11.11 72 0 0.00 FAT4 79633 genome.wustl.edu 37 4 126411501 126411501 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 126411501 126411501 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.13524 p.I4508 0.990 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 57 30 34.48 62 0 0.00 FATE1 89885 genome.wustl.edu 37 X 150884628 150884628 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 150884628 150884628 G A SNP FATE1 ENST00000370350 human ensembl 70_37 +1 known missense c.37 p.E13K 0.001 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 45 8 15.09 27 0 0.00 FATE1 89885 genome.wustl.edu 37 X 150889972 150889972 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 150889972 150889972 C T SNP FATE1 ENST00000370350 human ensembl 70_37 +1 known missense c.340 p.R114C 0.001 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 50 8 13.79 49 0 0.00 FAXC 84553 genome.wustl.edu 37 6 99771395 99771395 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 6 99771395 99771395 C T SNP FAXC ENST00000389677 human ensembl 70_37 -1 known missense c.748 p.G250S 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 42 26 38.24 59 0 0.00 FAXC 84553 genome.wustl.edu 37 6 99771499 99771499 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 99771499 99771499 C A SNP FAXC ENST00000389677 human ensembl 70_37 -1 known missense c.644 p.R215L 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 43 19 30.65 96 0 0.00 FBF1 85302 genome.wustl.edu 37 17 73910890 73910890 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 73910890 73910890 C T SNP FBF1 ENST00000389570 human ensembl 70_37 -1 known missense c.2710 p.E904K 0.922 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 25 6 19.35 14 0 0.00 FBF1 85302 genome.wustl.edu 37 17 73919313 73919313 + Nonsense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 73919313 73919313 C A SNP FBF1 ENST00000389570 human ensembl 70_37 -1 known nonsense c.1336 p.E446* 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 54 10 15.62 17 0 0.00 FBLIM1 54751 genome.wustl.edu 37 1 16111165 16111165 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16111165 16111165 G A SNP FBLIM1 ENST00000514156 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FBLIM1 HGNC ENSG00000162458 37 16 29.63 61 0 0.00 FBLN1 2192 genome.wustl.edu 37 22 45970481 45970481 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45970481 45970481 C G SNP FBLN1 ENST00000327858 human ensembl 70_37 +1 known missense c.1788 p.I596M 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 27 23 46.00 48 0 0.00 FBLN1 2192 genome.wustl.edu 37 22 45996325 45996325 + Nonstop_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 45996325 45996325 G C SNP FBLN1 ENST00000327858 human ensembl 70_37 +1 known nonstop c.2111 p.*704S 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 18 11 37.93 52 0 0.00 FBLN2 2199 genome.wustl.edu 37 3 13612026 13612026 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 13612026 13612026 G A SNP FBLN2 ENST00000404922 human ensembl 70_37 +1 known silent c.171 p.T57 0.002 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 6 7 53.85 21 0 0.00 FBLN2 2199 genome.wustl.edu 37 3 13669378 13669378 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 13669378 13669378 C T SNP FBLN2 ENST00000404922 human ensembl 70_37 +1 known silent c.2478 p.F826 0.528 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 47 28 37.33 69 0 0.00 FBLN2 2199 genome.wustl.edu 37 3 13679362 13679362 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 13679362 13679362 C - DEL FBLN2 ENST00000404922 human ensembl 70_37 +1 known frame_shift_del c.3639 p.S1214fs 0.989 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 227 40 14.98 302 0 0.00 FBLN5 10516 genome.wustl.edu 37 14 92361324 92361324 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 92361324 92361324 C T SNP FBLN5 ENST00000342058 human ensembl 70_37 -1 known missense c.472 p.G158R 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 57 14 19.72 55 0 0.00 FBLN7 129804 genome.wustl.edu 37 2 112933425 112933425 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 112933425 112933425 C G SNP FBLN7 ENST00000472377 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FBLN7 HGNC ENSG00000144152 30 29 49.15 22 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48703267 48703267 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 48703267 48703267 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.8536 p.E2846K 1.000 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 78 53 40.46 133 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48736764 48736764 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 48736764 48736764 T C SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.6011 p.Y2004C 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 85 14 14.14 169 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48760655 48760655 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 48760655 48760655 G A SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known silent c.4536 p.D1512 0.238 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 13 20 60.61 16 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48779635 48779635 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 48779635 48779635 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known splice_site c.3338-1 e27-1 1.000 - - - no_errors FBN1 HGNC ENSG00000166147 30 9 23.08 34 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48796084 48796084 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 48796084 48796084 G C SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.2013 p.I671M 0.991 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 11 35 76.09 76 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48826336 48826336 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 48826336 48826336 G A SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.803 p.S268F 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 337 174 34.05 632 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48888524 48888524 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 48888524 48888524 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.494 p.R165Q 1.000 smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 28 13 31.71 27 0 0.00 FBN1 2200 genome.wustl.edu 37 15 48936854 48936854 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 48936854 48936854 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.113 p.R38K 0.967 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 100 49 32.89 236 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127613633 127613633 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 127613633 127613633 G T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known silent c.7410 p.G2470 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 14 22 61.11 45 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127627276 127627276 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 127627276 127627276 G C SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.6237 p.F2079L 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 18 27 60.00 24 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127641259 127641259 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 5 127641259 127641259 C G SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.5618 p.S1873T 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 28 9 24.32 32 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127641308 127641308 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 127641308 127641308 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.5569 p.G1857S 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 28 4 12.50 35 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127653955 127653955 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 127653955 127653955 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.4603 p.E1535K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 32 4 11.11 19 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127686699 127686699 + Splice_Site SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 127686699 127686699 T C SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known splice_site c.2675-2 e21-2 1.000 - - - no_errors FBN2 HGNC ENSG00000138829 36 4 10.00 85 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127697517 127697517 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 127697517 127697517 C G SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2453 p.R818T 1.000 pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 31 19 37.25 42 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127704923 127704923 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 127704923 127704923 C G SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2200 p.D734H 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 16 15 48.39 34 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127704974 127704974 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 127704974 127704974 G A SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2149 p.R717C 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 43 6 12.24 44 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 127800434 127800434 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.809 p.R270H 1.000 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 71 13 15.48 92 0 0.00 FBN2 2201 genome.wustl.edu 37 5 127866340 127866340 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 127866340 127866340 G A SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known silent c.384 p.N128 1.000 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 19 18 48.65 37 0 0.00 FBN3 84467 genome.wustl.edu 37 19 8151189 8151189 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 8151189 8151189 G C SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known missense c.6775 p.Q2259E 0.995 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 44 19 29.69 38 0 0.00 FBN3 84467 genome.wustl.edu 37 19 8182454 8182454 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 8182454 8182454 C G SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.3357 p.L1119 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 30 21 41.18 35 0 0.00 FBN3 84467 genome.wustl.edu 37 19 8182454 8182454 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 8182454 8182454 C T SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.3357 p.L1119 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 13 22 62.86 38 0 0.00 FBN3 84467 genome.wustl.edu 37 19 8188852 8188852 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8188852 8188852 A G SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.2772 p.D924 0.796 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 29 4 12.12 51 0 0.00 FBN3 84467 genome.wustl.edu 37 19 8197937 8197937 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8197937 8197937 C T SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known missense c.1645 p.E549K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 53 25 31.65 59 0 0.00 FBP1 2203 genome.wustl.edu 37 9 97369154 97369154 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 97369154 97369154 G A SNP FBP1 ENST00000375326 human ensembl 70_37 -1 known silent c.648 p.Y216 0.837 pfam_FBPase_class-1/SBPase,prints_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase - no_errors FBP1 HGNC ENSG00000165140 42 25 37.31 61 0 0.00 FBRS 64319 genome.wustl.edu 37 16 30674116 30674116 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30674116 30674116 C T SNP FBRS ENST00000356166 human ensembl 70_37 +1 known missense c.991 p.R331W 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 32 14 30.43 29 0 0.00 FBRS 64319 genome.wustl.edu 37 16 30680445 30680445 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 30680445 30680445 C T SNP FBRS ENST00000356166 human ensembl 70_37 +1 known missense c.2422 p.R808W 0.998 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 22 7 24.14 33 0 0.00 FBRSL1 57666 genome.wustl.edu 37 12 133086362 133086362 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 133086362 133086362 C T SNP FBRSL1 ENST00000542061 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors FBRSL1 HGNC ENSG00000112787 10 7 41.18 13 0 0.00 FBRSL1 57666 genome.wustl.edu 37 12 133148877 133148877 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 133148877 133148877 G C SNP FBRSL1 ENST00000434748 human ensembl 70_37 +1 known missense c.1435 p.D479H 1.000 NULL prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 48 34 41.46 123 0 0.00 FBXL13 222235 genome.wustl.edu 37 7 102566785 102566785 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 102566785 102566785 C A SNP FBXL13 ENST00000313221 human ensembl 70_37 -1 known missense c.814 p.G272W 0.066 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 20 4 16.67 34 0 0.00 FBXL13 222235 genome.wustl.edu 37 7 102604086 102604086 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 102604086 102604086 C T SNP FBXL13 ENST00000313221 human ensembl 70_37 -1 known silent c.618 p.V206 0.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 17 14 45.16 17 0 0.00 FBXL13 222235 genome.wustl.edu 37 7 102695584 102695584 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 102695584 102695584 C T SNP FBXL13 ENST00000448002 human ensembl 70_37 -1 known missense c.221 p.R74K 0.115 NULL superfamily_F-box_dom_cyclin-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 62 11 15.07 39 0 0.00 FBXL14 144699 genome.wustl.edu 37 12 1702314 1702314 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 1702314 1702314 G A SNP FBXL14 ENST00000339235 human ensembl 70_37 -1 known missense c.919 p.L307F 1.000 pfam_Leu-rich_rpt_2,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 21 9 30.00 36 0 0.00 FBXL14 144699 genome.wustl.edu 37 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 1703090 1703090 A C SNP FBXL14 ENST00000339235 human ensembl 70_37 -1 known missense c.143 p.V48G 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 19 13 39.39 11 0 0.00 FBXL15 79176 genome.wustl.edu 37 10 104182625 104182625 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 104182625 104182625 G A SNP FBXL15 ENST00000224862 human ensembl 70_37 +1 known missense c.778 p.E260K 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL15 HGNC ENSG00000107872 13 10 43.48 29 0 0.00 FBXL16 146330 genome.wustl.edu 37 16 744329 744329 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 744329 744329 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known silent c.1386 p.P462 0.944 NULL superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 21 15 41.67 38 0 0.00 FBXL16 146330 genome.wustl.edu 37 16 745029 745029 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 745029 745029 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known missense c.1190 p.S397L 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 37 43 53.75 83 0 0.00 FBXL16 146330 genome.wustl.edu 37 16 745768 745768 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 745768 745768 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known silent c.789 p.I263 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 22 9 29.03 17 0 0.00 FBXL16 146330 genome.wustl.edu 37 16 747106 747106 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 747106 747106 C G SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known missense c.300 p.K100N 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 28 21 42.86 29 0 0.00 FBXL18 80028 genome.wustl.edu 37 7 5540978 5540978 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 5540978 5540978 G T SNP FBXL18 ENST00000453700 human ensembl 70_37 -1 known missense c.922 p.L308M 0.217 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 31 42 57.53 73 0 0.00 FBXL18 80028 genome.wustl.edu 37 7 5541259 5541259 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 5541259 5541259 G A SNP FBXL18 ENST00000453700 human ensembl 70_37 -1 known missense c.641 p.S214L 0.995 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 32 11 25.58 68 0 0.00 FBXL19 54620 genome.wustl.edu 37 16 30937143 30937143 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 30937143 30937143 G A SNP FBXL19 ENST00000380310 human ensembl 70_37 +1 known missense c.128 p.R43Q 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 10 8 44.44 35 0 0.00 FBXL19-AS1 283932 genome.wustl.edu 37 16 30932382 30932382 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30932382 30932382 G T SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 30 4 11.76 33 0 0.00 FBXL19-AS1 283932 genome.wustl.edu 37 16 30934042 30934042 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30934042 30934042 C T SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 27 7 20.59 59 0 0.00 FBXL19-AS1 283932 genome.wustl.edu 37 16 30934103 30934103 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30934103 30934103 C G SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 33 17 34.00 43 0 0.00 FBXL19-AS1 283932 genome.wustl.edu 37 16 30934304 30934304 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 30934304 30934304 G A SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.883 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 5 14 73.68 34 0 0.00 FBXL19-AS1 283932 genome.wustl.edu 37 16 30934378 30934378 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30934378 30934378 C G SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 102 73 41.71 131 0 0.00 FBXL2 25827 genome.wustl.edu 37 3 33406150 33406150 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 3 33406150 33406150 G A SNP FBXL2 ENST00000484457 human ensembl 70_37 +1 known missense c.229 p.G77S 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL2 HGNC ENSG00000153558 8 20 71.43 31 0 0.00 FBXL20 84961 genome.wustl.edu 37 17 37421664 37421664 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 37421664 37421664 G A SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known nonsense c.976 p.R326* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC ENSG00000108306 27 7 20.59 35 0 0.00 FBXL20 84961 genome.wustl.edu 37 17 37499465 37499465 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37499465 37499465 G C SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known missense c.72 p.I24M 1.000 pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC ENSG00000108306 65 10 13.33 95 0 0.00 FBXL20 84961 genome.wustl.edu 37 17 37499487 37499487 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 37499487 37499487 G C SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known nonsense c.50 p.S17* 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC ENSG00000108306 10 28 73.68 51 0 0.00 FBXL20 84961 genome.wustl.edu 37 17 37557641 37557641 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 37557641 37557641 C T SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known silent c.15 p.V5 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC ENSG00000108306 236 72 23.38 111 0 0.00 FBXL22 283807 genome.wustl.edu 37 15 63893570 63893570 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63893570 63893570 G C SNP FBXL22 ENST00000539570 human ensembl 70_37 +1 known silent c.429 p.P143 0.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXL22 Uniprot_genename ENSG00000259662 48 22 31.43 42 0 0.00 FBXL3 26224 genome.wustl.edu 37 13 77581724 77581724 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77581724 77581724 G A SNP FBXL3 ENST00000355619 human ensembl 70_37 -1 known silent c.843 p.I281 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like - no_errors FBXL3 HGNC ENSG00000005812 29 15 34.09 48 0 0.00 FBXL4 26235 genome.wustl.edu 37 6 99347235 99347235 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 99347235 99347235 G A SNP FBXL4 ENST00000229971 human ensembl 70_37 -1 known missense c.1226 p.S409F 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC ENSG00000112234 45 8 15.09 27 0 0.00 FBXL4 26235 genome.wustl.edu 37 6 99365576 99365576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 99365576 99365576 C G SNP FBXL4 ENST00000229971 human ensembl 70_37 -1 known missense c.532 p.E178Q 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC ENSG00000112234 16 3 15.79 33 0 0.00 FBXL5 26234 genome.wustl.edu 37 4 15607356 15607356 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 15607356 15607356 G C SNP FBXL5 ENST00000341285 human ensembl 70_37 -1 known missense c.2066 p.S689C 1.000 NULL pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL5 HGNC ENSG00000118564 24 9 27.27 34 0 0.00 FBXL5 26234 genome.wustl.edu 37 4 15607405 15607405 + Missense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 4 15607405 15607405 C A SNP FBXL5 ENST00000341285 human ensembl 70_37 -1 known missense c.2017 p.A673S 1.000 NULL pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL5 HGNC ENSG00000118564 16 3 15.79 69 0 0.00 FBXL7 23194 genome.wustl.edu 37 5 15937289 15937289 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 15937289 15937289 C G SNP FBXL7 ENST00000504595 human ensembl 70_37 +1 known missense c.1470 p.F490L 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC ENSG00000183580 21 6 22.22 8 0 0.00 FBXL8 55336 genome.wustl.edu 37 16 67197223 67197223 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 67197223 67197223 G C SNP FBXL8 ENST00000258200 human ensembl 70_37 +1 known missense c.625 p.E209Q 0.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL8 HGNC ENSG00000135722 11 5 31.25 26 0 0.00 FBXO10 26267 genome.wustl.edu 37 9 37537857 37537857 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 37537857 37537857 C T SNP FBXO10 ENST00000432825 human ensembl 70_37 -1 known silent c.669 p.V223 0.996 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 30 34 53.12 55 0 0.00 FBXO11 80204 genome.wustl.edu 37 2 48036826 48036826 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 48036826 48036826 C T SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.2359 p.A787T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 26 7 21.21 35 0 0.00 FBXO11 80204 genome.wustl.edu 37 2 48040408 48040408 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 48040408 48040408 C G SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.2192 p.R731T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 35 6 14.63 45 0 0.00 FBXO11 80204 genome.wustl.edu 37 2 48050303 48050303 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 48050303 48050303 G C SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known nonsense c.1595 p.S532* 1.000 superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 29 14 32.56 39 0 0.00 FBXO11 80204 genome.wustl.edu 37 2 48059543 48059543 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 48059543 48059543 C T SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.1343 p.R448Q 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 18 6 25.00 25 0 0.00 FBXO11 80204 genome.wustl.edu 37 2 48059985 48059985 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 48059985 48059985 T G SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.1076 p.N359T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 85 10 10.53 104 1 0.95 FBXO11 80204 genome.wustl.edu 37 2 48061746 48061747 + Frame_Shift_Ins INS - - AT TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 48061746 48061747 - AT INS FBXO11 ENST00000403359 human ensembl 70_37 -1 known frame_shift_ins c.906_905 p.E303fs 1.000:1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 30 13 30.23 24 0 0.00 FBXO15 201456 genome.wustl.edu 37 18 71790643 71790643 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 71790643 71790643 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known silent c.1098 p.F366 0.908 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 18 4 18.18 32 0 0.00 FBXO15 201456 genome.wustl.edu 37 18 71791733 71791733 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 71791733 71791733 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known missense c.986 p.S329L 0.989 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 16 7 30.43 12 0 0.00 FBXO15 201456 genome.wustl.edu 37 18 71793246 71793246 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 71793246 71793246 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known silent c.876 p.F292 0.998 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 26 27 50.94 30 0 0.00 FBXO15 201456 genome.wustl.edu 37 18 71807467 71807467 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 71807467 71807467 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known missense c.197 p.S66F 0.004 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 29 9 23.68 29 0 0.00 FBXO16 157574 genome.wustl.edu 37 8 28218599 28218599 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 28218599 28218599 G A SNP FBXO16 ENST00000521548 human ensembl 70_37 -1 known missense c.944 p.P315L 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO16 HGNC ENSG00000214050 19 4 17.39 36 0 0.00 FBXO16 157574 genome.wustl.edu 37 8 28314370 28314370 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 8 28314370 28314370 G T SNP FBXO16 ENST00000521548 human ensembl 70_37 -1 known silent c.420 p.I140 0.970 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO16 HGNC ENSG00000214050 24 3 11.11 51 0 0.00 FBXO18 84893 genome.wustl.edu 37 10 5945069 5945069 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 5945069 5945069 C T SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known nonsense c.241 p.Q81* 0.989 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 51 27 34.62 56 0 0.00 FBXO18 84893 genome.wustl.edu 37 10 5957376 5957376 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 5957376 5957376 G A SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known silent c.1560 p.K520 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 52 11 17.46 44 0 0.00 FBXO18 84893 genome.wustl.edu 37 10 5963484 5963484 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 5963484 5963484 C T SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known silent c.2427 p.A809 0.011 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 54 19 26.03 71 0 0.00 FBXO21 23014 genome.wustl.edu 37 12 117584046 117584046 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 117584046 117584046 G A SNP FBXO21 ENST00000330622 human ensembl 70_37 -1 known missense c.1733 p.S578L 0.987 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 51 13 20.31 58 0 0.00 FBXO21 23014 genome.wustl.edu 37 12 117610280 117610280 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 117610280 117610280 C G SNP FBXO21 ENST00000330622 human ensembl 70_37 -1 known missense c.1009 p.E337Q 0.932 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 15 10 40.00 36 0 0.00 FBXO22 26263 genome.wustl.edu 37 15 76209576 76209576 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 76209576 76209576 C G SNP FBXO22 ENST00000308275 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 NULL pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC ENSG00000167196 56 14 20.00 46 0 0.00 FBXO22 26263 genome.wustl.edu 37 15 76209603 76209603 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 76209603 76209603 C T SNP FBXO22 ENST00000308275 human ensembl 70_37 +1 known nonsense c.496 p.Q166* 1.000 NULL pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC ENSG00000167196 45 18 28.57 52 0 0.00 FBXO24 26261 genome.wustl.edu 37 7 100189465 100189465 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100189465 100189465 C T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known silent c.612 p.L204 0.990 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 169 24 12.44 223 1 0.44 FBXO24 26261 genome.wustl.edu 37 7 100190413 100190413 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 100190413 100190413 C T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.680 p.S227L 0.984 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 140 29 17.16 106 0 0.00 FBXO24 26261 genome.wustl.edu 37 7 100192016 100192016 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100192016 100192016 G T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.918 p.K306N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 62 16 20.25 55 0 0.00 FBXO24 26261 genome.wustl.edu 37 7 100192119 100192119 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 100192119 100192119 G A SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.1021 p.V341M 0.994 superfamily_Reg_csome_cond/b-lactamase_inh pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 47 50 51.55 55 0 0.00 FBXO24 26261 genome.wustl.edu 37 7 100193257 100193257 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 100193257 100193257 C T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known silent c.1248 p.I416 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 106 52 32.91 87 0 0.00 FBXO25 26260 genome.wustl.edu 37 8 363141 363141 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 363141 363141 G T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.62 p.G21V 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 33 4 10.81 25 0 0.00 FBXO25 26260 genome.wustl.edu 37 8 382894 382894 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 382894 382894 C T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.247 p.R83C 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 2 29 93.55 44 0 0.00 FBXO25 26260 genome.wustl.edu 37 8 382894 382894 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 382894 382894 C T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.247 p.R83C 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 5 27 81.82 87 0 0.00 FBXO25 26260 genome.wustl.edu 37 8 400077 400077 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 400077 400077 C G SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.469 p.Q157E 0.978 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 93 20 17.70 155 0 0.00 FBXO3 26273 genome.wustl.edu 37 11 33763601 33763601 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 33763601 33763601 C A SNP FBXO3 ENST00000265651 human ensembl 70_37 -1 known missense c.1269 p.M423I 1.000 NULL pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like - no_errors FBXO3 HGNC ENSG00000110429 15 3 16.67 17 0 0.00 FBXO3 26273 genome.wustl.edu 37 11 33795773 33795773 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 33795773 33795773 C T SNP FBXO3 ENST00000533103 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXO3 HGNC ENSG00000110429 20 127 86.39 20 0 0.00 FBXO30 84085 genome.wustl.edu 37 6 146125682 146125682 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 146125682 146125682 G T SNP FBXO30 ENST00000237281 human ensembl 70_37 -1 known silent c.1860 p.V620 0.880 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 36 4 10.00 42 0 0.00 FBXO31 79791 genome.wustl.edu 37 16 87364921 87364921 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 87364921 87364921 G A SNP FBXO31 ENST00000311635 human ensembl 70_37 -1 known silent c.1593 p.L531 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO31 HGNC ENSG00000103264 64 26 28.57 96 0 0.00 FBXO31 79791 genome.wustl.edu 37 16 87376497 87376497 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 87376497 87376497 C A SNP FBXO31 ENST00000311635 human ensembl 70_37 -1 known missense c.718 p.G240C 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO31 HGNC ENSG00000103264 14 15 51.72 37 0 0.00 FBXO32 114907 genome.wustl.edu 37 8 124516928 124516928 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 124516928 124516928 G C SNP FBXO32 ENST00000517956 human ensembl 70_37 -1 known missense c.894 p.F298L 0.999 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO32 HGNC ENSG00000156804 43 60 58.25 56 0 0.00 FBXO33 254170 genome.wustl.edu 37 14 39868938 39868938 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 39868938 39868938 C T SNP FBXO33 ENST00000298097 human ensembl 70_37 -1 known missense c.1450 p.D484N 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO33 HGNC ENSG00000165355 22 6 21.43 12 0 0.00 FBXO33 254170 genome.wustl.edu 37 14 39870958 39870958 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 39870958 39870958 G C SNP FBXO33 ENST00000298097 human ensembl 70_37 -1 known missense c.818 p.S273C 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO33 HGNC ENSG00000165355 3 17 85.00 21 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55738158 55738158 + RNA SNP T T A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 55738158 55738158 T A SNP FBXO34 ENST00000554940 human ensembl 70_37 +1 putative rna NULL NULL 0.005 - - - no_errors FBXO34 HGNC ENSG00000178974 26 8 23.53 15 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55817284 55817284 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55817284 55817284 G A SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.176 p.R59Q 0.779 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 20 11 35.48 60 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55817459 55817459 + Frame_Shift_Del DEL G G - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 55817459 55817459 G - DEL FBXO34 ENST00000313833 human ensembl 70_37 +1 known frame_shift_del c.351 p.E118fs 1.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 13 2 13.33 45 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55817886 55817886 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55817886 55817886 G T SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known nonsense c.778 p.E260* 0.797 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 14 5 26.32 32 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55818715 55818715 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 55818715 55818715 C G SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.1607 p.S536C 0.001 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 72 24 25.00 69 0 0.00 FBXO34 55030 genome.wustl.edu 37 14 55818718 55818718 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 55818718 55818718 C T SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.1610 p.S537F 0.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 36 24 40.00 82 0 0.00 FBXO38 81545 genome.wustl.edu 37 5 147781924 147781924 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 147781924 147781924 C T SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.440 p.S147F 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC ENSG00000145868 4 11 73.33 67 0 0.00 FBXO38 81545 genome.wustl.edu 37 5 147782040 147782040 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 147782040 147782040 C T SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.556 p.P186S 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC ENSG00000145868 1 8 80.00 41 0 0.00 FBXO38 81545 genome.wustl.edu 37 5 147807033 147807033 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 147807033 147807033 G A SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.2176 p.D726N 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC ENSG00000145868 16 9 36.00 23 0 0.00 FBXO38 81545 genome.wustl.edu 37 5 147820794 147820794 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 147820794 147820794 G A SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.3382 p.E1128K 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC ENSG00000145868 36 30 45.45 39 0 0.00 FBXO39 162517 genome.wustl.edu 37 17 6683544 6683544 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6683544 6683544 G C SNP FBXO39 ENST00000321535 human ensembl 70_37 +1 known silent c.357 p.L119 1.000 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 19 7 26.92 16 0 0.00 FBXO39 162517 genome.wustl.edu 37 17 6684086 6684086 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 6684086 6684086 G A SNP FBXO39 ENST00000321535 human ensembl 70_37 +1 known missense c.899 p.R300Q 1.000 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 23 13 36.11 26 0 0.00 FBXO4 26272 genome.wustl.edu 37 5 41927154 41927154 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 41927154 41927154 C T SNP FBXO4 ENST00000281623 human ensembl 70_37 +1 known missense c.229 p.H77Y 0.498 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO4 HGNC ENSG00000151876 33 9 21.43 49 0 0.00 FBXO40 51725 genome.wustl.edu 37 3 121340434 121340434 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 121340434 121340434 A G SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.158 p.E53G 1.000 superfamily_TRAF-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 29 14 32.56 33 0 0.00 FBXO40 51725 genome.wustl.edu 37 3 121340763 121340763 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121340763 121340763 G A SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.487 p.E163K 0.022 NULL superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 59 14 19.18 47 0 0.00 FBXO40 51725 genome.wustl.edu 37 3 121340784 121340784 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121340784 121340784 G A SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.508 p.G170R 0.710 NULL superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 68 14 17.07 48 0 0.00 FBXO40 51725 genome.wustl.edu 37 3 121345634 121345634 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121345634 121345634 C G SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.2007 p.F669L 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 26 8 23.53 19 0 0.00 FBXO41 150726 genome.wustl.edu 37 2 73491083 73491083 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 73491083 73491083 C A SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.2088 p.E696D 0.997 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 39 12 23.53 65 0 0.00 FBXO41 150726 genome.wustl.edu 37 2 73491453 73491453 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 73491453 73491453 C T SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.1942 p.A648T 0.986 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 35 6 14.63 46 0 0.00 FBXO41 150726 genome.wustl.edu 37 2 73491609 73491609 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 73491609 73491609 C G SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.1786 p.E596Q 0.990 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 30 10 25.00 54 0 0.00 FBXO41 150726 genome.wustl.edu 37 2 73495991 73495991 + Silent SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 73495991 73495991 C A SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known silent c.951 p.A317 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 9 4 30.77 9 0 0.00 FBXO42 54455 genome.wustl.edu 37 1 16577299 16577299 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16577299 16577299 G T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.2020 p.P674T 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC ENSG00000037637 269 99 26.90 389 0 0.00 FBXO42 54455 genome.wustl.edu 37 1 16577630 16577630 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16577630 16577630 G C SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1689 p.I563M 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC ENSG00000037637 14 3 17.65 22 0 0.00 FBXO42 54455 genome.wustl.edu 37 1 16577862 16577862 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 16577862 16577862 C T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1457 p.R486Q 0.986 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC ENSG00000037637 129 16 10.96 105 0 0.00 FBXO42 54455 genome.wustl.edu 37 1 16577905 16577905 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 16577905 16577905 C T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1414 p.E472K 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC ENSG00000037637 79 14 15.05 76 0 0.00 FBXO42 54455 genome.wustl.edu 37 1 16577965 16577965 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 16577965 16577965 C G SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1354 p.G452R 0.810 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC ENSG00000037637 46 9 16.07 47 0 0.00 FBXO43 286151 genome.wustl.edu 37 8 101146590 101146590 + Silent SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 101146590 101146590 C A SNP FBXO43 ENST00000428847 human ensembl 70_37 -1 known silent c.1677 p.G559 0.765 NULL pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 16 4 20.00 12 0 0.00 FBXO43 286151 genome.wustl.edu 37 8 101154311 101154311 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 101154311 101154311 G C SNP FBXO43 ENST00000428847 human ensembl 70_37 -1 known silent c.171 p.V57 0.002 NULL pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 58 8 12.12 18 0 0.00 FBXO45 200933 genome.wustl.edu 37 3 196304665 196304665 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 3 196304665 196304665 C T SNP FBXO45 ENST00000311630 human ensembl 70_37 +1 known silent c.660 p.N220 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like - no_errors FBXO45 HGNC ENSG00000174013 26 14 35.00 26 0 0.00 FBXO45 200933 genome.wustl.edu 37 3 196311048 196311048 + Silent SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 196311048 196311048 T A SNP FBXO45 ENST00000311630 human ensembl 70_37 +1 known silent c.720 p.T240 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like - no_errors FBXO45 HGNC ENSG00000174013 7 4 36.36 24 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46215154 46215154 + Missense_Mutation SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 46215154 46215154 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.1600 p.R534C 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 14 15 51.72 30 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46215971 46215971 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46215971 46215971 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known silent c.783 p.I261 0.632 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 36 18 33.33 47 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46216131 46216131 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 46216131 46216131 C T SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.623 p.G208E 0.133 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 38 9 19.15 97 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46216269 46216269 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 46216269 46216269 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.485 p.S162L 0.031 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 17 48 73.85 121 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46216318 46216318 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 46216318 46216318 C G SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.436 p.D146H 0.530 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 112 29 20.57 115 0 0.00 FBXO46 23403 genome.wustl.edu 37 19 46216665 46216665 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46216665 46216665 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.89 p.A30V 0.000 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 21 11 34.38 47 0 0.00 FBXO47 494188 genome.wustl.edu 37 17 37094979 37094979 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 37094979 37094979 C G SNP FBXO47 ENST00000378079 human ensembl 70_37 -1 known missense c.1090 p.E364Q 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO47 HGNC ENSG00000204952 52 16 23.53 33 0 0.00 FBXO47 494188 genome.wustl.edu 37 17 37099097 37099097 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 37099097 37099097 G A SNP FBXO47 ENST00000378079 human ensembl 70_37 -1 known silent c.1017 p.F339 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO47 HGNC ENSG00000204952 36 23 38.98 54 0 0.00 FBXO5 26271 genome.wustl.edu 37 6 153293413 153293413 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153293413 153293413 G T SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.1086 p.F362L 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC ENSG00000112029 32 15 31.91 72 0 0.00 FBXO5 26271 genome.wustl.edu 37 6 153296192 153296192 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153296192 153296192 A C SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.668 p.I223S 0.031 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC ENSG00000112029 35 5 12.50 79 0 0.00 FBXO5 26271 genome.wustl.edu 37 6 153304092 153304092 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 153304092 153304092 C G SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC ENSG00000112029 5 6 54.55 10 0 0.00 FBXO9 26268 genome.wustl.edu 37 6 52935903 52935903 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 52935903 52935903 G A SNP FBXO9 ENST00000244426 human ensembl 70_37 +1 known missense c.82 p.D28N 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO9 HGNC ENSG00000112146 51 12 19.05 73 0 0.00 FBXO9 26268 genome.wustl.edu 37 6 52958272 52958272 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 52958272 52958272 G A SNP FBXO9 ENST00000244426 human ensembl 70_37 +1 known missense c.902 p.R301K 1.000 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO9 HGNC ENSG00000112146 47 21 30.88 46 0 0.00 FBXW10 10517 genome.wustl.edu 37 17 18647791 18647791 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 18647791 18647791 G C SNP FBXW10 ENST00000308799 human ensembl 70_37 +1 known missense c.234 p.Q78H 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 74 26 26.00 88 0 0.00 FBXW10 10517 genome.wustl.edu 37 17 18659415 18659415 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 18659415 18659415 G C SNP FBXW10 ENST00000308799 human ensembl 70_37 +1 known missense c.1267 p.E423Q 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 164 60 26.79 251 0 0.00 FBXW10 10517 genome.wustl.edu 37 17 18682026 18682026 + Missense_Mutation SNP C C A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 17 18682026 18682026 C A SNP FBXW10 ENST00000308799 human ensembl 70_37 +1 known missense c.2601 p.F867L 0.080 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 86 39 31.20 75 0 0.00 FBXW11 23291 genome.wustl.edu 37 5 171299926 171299926 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 171299926 171299926 G A SNP FBXW11 ENST00000265094 human ensembl 70_37 -1 known silent c.1227 p.L409 0.223 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 87 19 17.92 52 0 0.00 FBXW11 23291 genome.wustl.edu 37 5 171305107 171305107 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 171305107 171305107 A C SNP FBXW11 ENST00000265094 human ensembl 70_37 -1 known missense c.816 p.C272W 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 16 11 40.74 47 0 0.00 FBXW12 285231 genome.wustl.edu 37 3 48415040 48415040 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 48415040 48415040 C T SNP FBXW12 ENST00000296438 human ensembl 70_37 +1 known missense c.131 p.S44L 0.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXW12 HGNC ENSG00000164049 34 16 32.00 85 0 0.00 FBXW12 285231 genome.wustl.edu 37 3 48423302 48423302 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 48423302 48423302 C T SNP FBXW12 ENST00000296438 human ensembl 70_37 +1 known silent c.1098 p.F366 0.335 superfamily_Quino_amine_DH_bsu pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXW12 HGNC ENSG00000164049 61 24 28.24 97 0 0.00 FBXW2 26190 genome.wustl.edu 37 9 123533705 123533705 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 123533705 123533705 G A SNP FBXW2 ENST00000373926 human ensembl 70_37 -1 known missense c.997 p.H333Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 56 21 27.27 71 0 0.00 FBXW2 26190 genome.wustl.edu 37 9 123540630 123540630 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 123540630 123540630 C T SNP FBXW2 ENST00000373926 human ensembl 70_37 -1 known silent c.684 p.A228 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 14 16 53.33 43 0 0.00 FBXW2 26190 genome.wustl.edu 37 9 123555327 123555327 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 123555327 123555327 C T SNP FBXW2 ENST00000476481 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors FBXW2 HGNC ENSG00000119402 15 14 48.28 24 0 0.00 FBXW4 6468 genome.wustl.edu 37 10 103386256 103386257 + RNA INS - - T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 10 103386256 103386257 - T INS FBXW4 ENST00000470093 human ensembl 70_37 -1 known rna NULL NULL 0.007:0.005 - - - no_errors FBXW4 HGNC ENSG00000107829 13 3 18.75 38 0 0.00 FBXW4 6468 genome.wustl.edu 37 10 103427677 103427677 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 103427677 103427677 G A SNP FBXW4 ENST00000331272 human ensembl 70_37 -1 known nonsense c.736 p.R246* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 38 19 33.33 64 0 0.00 FBXW4 6468 genome.wustl.edu 37 10 103433427 103433427 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 103433427 103433427 C G SNP FBXW4 ENST00000331272 human ensembl 70_37 -1 known splice_site c.361-1 e3-1 1.000 - - - no_errors FBXW4 HGNC ENSG00000107829 33 11 25.00 38 0 0.00 FBXW5 54461 genome.wustl.edu 37 9 139835782 139835782 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 139835782 139835782 G C SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known missense c.1378 p.L460V 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 16 12 42.86 26 0 0.00 FBXW5 54461 genome.wustl.edu 37 9 139836132 139836132 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 139836132 139836132 G C SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known missense c.1101 p.I367M 0.994 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 28 17 37.78 26 0 0.00 FBXW5 54461 genome.wustl.edu 37 9 139838386 139838386 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139838386 139838386 G A SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known silent c.150 p.F50 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 7 4 36.36 12 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153244184 153244184 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 153244184 153244184 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1973 p.R658Q 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 40 29 42.03 66 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153244185 153244185 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 153244185 153244185 G T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known silent c.1972 p.R658 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 35 4 10.26 30 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153245393 153245393 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 153245393 153245393 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1798 p.D600H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 5 11 68.75 25 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153245393 153245393 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 153245393 153245393 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1798 p.D600N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 16 42 72.41 80 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153245393 153245393 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 153245393 153245393 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1798 p.D600N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 9 38 80.85 33 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247245 153247245 + Nonsense_Mutation SNP A A T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 153247245 153247245 A T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1557 p.Y519* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 129 74 36.45 233 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247280 153247280 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 153247280 153247280 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1522 p.Q508* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 32 7 17.95 30 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 153247289 153247289 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1513 p.R505C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 21 24 53.33 51 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 153247289 153247289 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1513 p.R505G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 90 67 42.68 71 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 153247289 153247289 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1513 p.R505G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 4 10 71.43 36 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247304 153247304 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 153247304 153247304 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1498 p.H500D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 12 48 80.00 48 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 153247366 153247366 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1436 p.R479P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 15 2 11.76 57 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 153247366 153247366 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1436 p.R479P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 50 12 19.35 29 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 4 153247366 153247366 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1436 p.R479Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 15 4 21.05 30 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153247367 153247367 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 153247367 153247367 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1435 p.R479G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 12 20 62.50 20 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 153249384 153249384 C A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1394 p.R465L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 26 20 43.48 30 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 4 153249384 153249384 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1394 p.R465H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 34 36 51.43 52 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 71 43 37.72 93 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 54 16 22.86 65 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153251907 153251907 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 153251907 153251907 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 26 46 63.89 50 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153253770 153253770 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 153253770 153253770 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.963 p.W321* 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 34 5 12.82 35 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153258986 153258986 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 153258986 153258986 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.829 p.Q277E 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 23 18 43.90 35 0 0.00 FBXW7 55294 genome.wustl.edu 37 4 153268138 153268138 + Nonsense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 153268138 153268138 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.670 p.R224* 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 48 20 29.41 94 0 0.00 FBXW8 26259 genome.wustl.edu 37 12 117402550 117402550 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 117402550 117402550 C T SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known silent c.726 p.Y242 0.227 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 24 25 51.02 89 0 0.00 FBXW8 26259 genome.wustl.edu 37 12 117426499 117426499 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 117426499 117426499 G C SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1064 p.R355T 0.240 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 18 12 40.00 62 0 0.00 FBXW8 26259 genome.wustl.edu 37 12 117426609 117426609 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 117426609 117426609 G A SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1174 p.D392N 0.997 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 134 47 25.82 165 0 0.00 FBXW8 26259 genome.wustl.edu 37 12 117465245 117465245 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 117465245 117465245 G A SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1588 p.A530T 0.999 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 66 16 19.51 52 0 0.00 FBXW9 84261 genome.wustl.edu 37 19 12800031 12800031 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 12800031 12800031 C T SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known silent c.1466 p.*489 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 61 24 28.24 90 0 0.00 FBXW9 84261 genome.wustl.edu 37 19 12800192 12800192 + Silent SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 12800192 12800192 G C SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known silent c.1386 p.L462 0.182 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 44 16 26.67 45 0 0.00 FBXW9 84261 genome.wustl.edu 37 19 12805444 12805444 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 12805444 12805444 G C SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known missense c.642 p.I214M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 35 7 16.28 42 0 0.00 FCAMR 83953 genome.wustl.edu 37 1 207133999 207133999 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 207133999 207133999 C G SNP FCAMR ENST00000324852 human ensembl 70_37 -1 novel missense c.1222 p.E408Q 0.011 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors FCAMR HGNC ENSG00000162897 101 50 32.89 96 0 0.00 FCER1G 2207 genome.wustl.edu 37 1 161187833 161187833 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 161187833 161187833 G A SNP FCER1G ENST00000367992 human ensembl 70_37 +1 known missense c.107 p.G36E 0.999 pfam_CR3_zeta/IgE_Fc_rcpt_gamma pfam_CR3_zeta/IgE_Fc_rcpt_gamma - no_errors FCER1G HGNC ENSG00000158869 65 37 36.27 77 0 0.00 FCER1G 2207 genome.wustl.edu 37 1 161189038 161189038 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 161189038 161189038 C G SNP FCER1G ENST00000490414 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FCER1G HGNC ENSG00000158869 56 11 16.42 38 0 0.00 FCF1 51077 genome.wustl.edu 37 14 75182714 75182714 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 75182714 75182714 C T SNP FCF1 ENST00000556814 human ensembl 70_37 +1 known missense c.161 p.T54I 1.000 NULL NULL - no_errors FCF1 HGNC ENSG00000119616 30 10 25.00 37 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40357710 40357710 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 40357710 40357710 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.15603 p.S5201 0.385 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 15 16 50.00 31 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40362851 40362851 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 40362851 40362851 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.15219 p.F5073 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 60 16 21.05 81 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40364196 40364196 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40364196 40364196 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.14446 p.R4816C 0.807 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 63 45 41.67 74 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40366170 40366170 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 40366170 40366170 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.14064 p.A4688 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 92 41 30.83 146 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40368436 40368436 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 40368436 40368436 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.12912 p.F4304 0.990 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 98 36 26.87 102 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40376662 40376662 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 40376662 40376662 G C SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.11760 p.H3920Q 0.001 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 43 8 15.69 42 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40376976 40376976 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 40376976 40376976 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.11446 p.E3816K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 25 7 21.88 36 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40380155 40380155 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 40380155 40380155 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.11160 p.F3720 0.991 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 40 8 16.67 51 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40382372 40382372 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 40382372 40382372 C G SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.10514 p.G3505A 0.004 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 16 6 27.27 29 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40382452 40382452 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 19 40382452 40382452 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.10434 p.A3478 0.003 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 3 3 50.00 9 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40382747 40382747 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 19 40382747 40382747 A G SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.10139 p.V3380A 0.952 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 50 6 10.71 100 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40392661 40392661 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 40392661 40392661 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.7843 p.E2615K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 23 8 25.81 41 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40398400 40398400 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 40398400 40398400 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.6567 p.F2189 0.995 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 109 37 25.34 178 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40399385 40399385 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 40399385 40399385 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.6310 p.G2104R 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 17 4 19.05 26 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40402410 40402410 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 40402410 40402410 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.4989 p.G1663 0.001 smart_Fol_N,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 36 4 10.00 42 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40411960 40411960 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 40411960 40411960 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.3668 p.S1223Y 0.428 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 48 28 36.84 81 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40421395 40421395 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 40421395 40421395 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.2526 p.P842 0.000 smart_VWF_C,smart_Fol_N pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 14 11 44.00 30 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40421422 40421422 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 40421422 40421422 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.2499 p.V833 0.585 smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 26 6 18.75 23 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40424127 40424127 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 40424127 40424127 G C SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.2076 p.D692E 0.999 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 17 12 41.38 64 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40433110 40433110 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40433110 40433110 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.1159 p.P387T 0.798 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 12 13 52.00 36 0 0.00 FCGBP 8857 genome.wustl.edu 37 19 40434171 40434171 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40434171 40434171 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.98 p.R33K 0.028 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 20 20 50.00 32 0 0.00 FCGR1A 2209 genome.wustl.edu 37 1 149755775 149755775 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 149755775 149755775 C G SNP FCGR1A ENST00000369168 human ensembl 70_37 +1 known nonsense c.269 p.S90* 0.186 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC ENSG00000150337 72 35 32.41 109 0 0.00 FCGR1B 2210 genome.wustl.edu 37 1 120927232 120927232 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 120927232 120927232 C T SNP FCGR1B ENST00000369384 human ensembl 70_37 -1 known missense c.748 p.D250N 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1B HGNC ENSG00000198019 25 6 19.35 24 0 0.00 FCGR1B 2210 genome.wustl.edu 37 1 120928571 120928571 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 120928571 120928571 G A SNP FCGR1B ENST00000471609 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FCGR1B HGNC ENSG00000198019 108 15 12.20 130 0 0.00 FCGR1C 100132417 genome.wustl.edu 37 1 149369355 149369355 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149369355 149369355 G C SNP FCGR1C ENST00000453173 human ensembl 70_37 +1 known rna NULL NULL 0.065 - - - no_errors FCGR1C HGNC ENSG00000253193 5 25 83.33 34 0 0.00 FCGR2A 2212 genome.wustl.edu 37 1 161475785 161475785 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 161475785 161475785 G T SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.94 p.D32Y 0.003 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 26 4 13.33 42 0 0.00 FCGR2A 2212 genome.wustl.edu 37 1 161479734 161479734 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161479734 161479734 G C SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.489 p.Q163H 0.005 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 71 43 37.72 99 0 0.00 FCGR2A 2212 genome.wustl.edu 37 1 161479832 161479832 + Missense_Mutation SNP T T A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 161479832 161479832 T A SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.587 p.F196Y 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 93 42 31.11 126 0 0.00 FCGR2A 2212 genome.wustl.edu 37 1 161487972 161487972 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161487972 161487972 G T SNP FCGR2A ENST00000471026 human ensembl 70_37 +1 known rna NULL NULL 0.162 - - - no_errors FCGR2A HGNC ENSG00000143226 24 10 29.41 30 0 0.00 FCGRT 2217 genome.wustl.edu 37 19 50027768 50027768 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 50027768 50027768 C A SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known silent c.606 p.P202 0.510 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 29 4 12.12 25 0 0.00 FCGRT 2217 genome.wustl.edu 37 19 50027862 50027862 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 50027862 50027862 C T SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known missense c.700 p.R234W 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 33 26 44.07 50 0 0.00 FCGRT 2217 genome.wustl.edu 37 19 50028011 50028011 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50028011 50028011 G A SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known silent c.849 p.A283 0.110 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 12 6 33.33 9 0 0.00 FCHO1 23149 genome.wustl.edu 37 19 17883355 17883355 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 17883355 17883355 G C SNP FCHO1 ENST00000252771 human ensembl 70_37 +1 known missense c.684 p.Q228H 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 79 32 28.83 170 0 0.00 FCHO1 23149 genome.wustl.edu 37 19 17885254 17885254 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 17885254 17885254 G A SNP FCHO1 ENST00000252771 human ensembl 70_37 +1 known missense c.887 p.R296Q 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 27 23 46.00 66 0 0.00 FCHO2 115548 genome.wustl.edu 37 5 72311459 72311459 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 72311459 72311459 C G SNP FCHO2 ENST00000341845 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC ENSG00000157107 37 14 27.45 71 0 0.00 FCHO2 115548 genome.wustl.edu 37 5 72332992 72332992 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 72332992 72332992 G A SNP FCHO2 ENST00000341845 human ensembl 70_37 +1 known silent c.864 p.K288 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC ENSG00000157107 9 7 43.75 23 0 0.00 FCHO2 115548 genome.wustl.edu 37 5 72350364 72350364 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 72350364 72350364 C T SNP FCHO2 ENST00000430046 human ensembl 70_37 +1 known missense c.1198 p.R400W 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC ENSG00000157107 50 18 26.47 70 0 0.00 FCHSD1 89848 genome.wustl.edu 37 5 141020662 141020662 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 141020662 141020662 G C SNP FCHSD1 ENST00000520465 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCHSD1 HGNC ENSG00000197948 23 29 55.77 37 0 0.00 FCHSD1 89848 genome.wustl.edu 37 5 141021033 141021033 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141021033 141021033 A C SNP FCHSD1 ENST00000518160 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCHSD1 HGNC ENSG00000197948 60 9 13.04 62 0 0.00 FCHSD1 89848 genome.wustl.edu 37 5 141023934 141023934 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 141023934 141023934 G C SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1714 p.L572V 0.814 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 53 20 27.40 68 0 0.00 FCHSD1 89848 genome.wustl.edu 37 5 141024239 141024239 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141024239 141024239 C T SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1543 p.E515K 0.965 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 13 13 50.00 29 0 0.00 FCHSD1 89848 genome.wustl.edu 37 5 141024446 141024446 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141024446 141024446 C T SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1504 p.D502N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 15 12 44.44 26 0 0.00 FCHSD2 9873 genome.wustl.edu 37 11 72551993 72551993 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 72551993 72551993 G A SNP FCHSD2 ENST00000409418 human ensembl 70_37 -1 known missense c.2068 p.H690Y 0.017 NULL pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 28 11 28.21 48 0 0.00 FCHSD2 9873 genome.wustl.edu 37 11 72553785 72553785 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 72553785 72553785 C T SNP FCHSD2 ENST00000409418 human ensembl 70_37 -1 known missense c.1807 p.D603N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 69 29 29.59 88 0 0.00 FCHSD2 9873 genome.wustl.edu 37 11 72554398 72554398 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 72554398 72554398 C T SNP FCHSD2 ENST00000474099 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors FCHSD2 HGNC ENSG00000137478 56 20 25.97 39 0 0.00 FCN1 2219 genome.wustl.edu 37 9 137801746 137801746 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 137801746 137801746 G A SNP FCN1 ENST00000371806 human ensembl 70_37 -1 known silent c.879 p.L293 0.200 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FCN1 HGNC ENSG00000085265 35 22 38.60 49 0 0.00 FCN3 8547 genome.wustl.edu 37 1 27700642 27700642 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 27700642 27700642 C G SNP FCN3 ENST00000481748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FCN3 HGNC ENSG00000142748 16 5 23.81 17 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157768000 157768000 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 157768000 157768000 G T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.1065 p.T355 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 23 19 36.54 47 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157769850 157769850 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157769850 157769850 G T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.1029 p.L343 0.973 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 22 7 24.14 51 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157773648 157773648 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 157773648 157773648 C T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.306 p.Q102 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 54 7 11.48 48 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157773666 157773666 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 157773666 157773666 C G SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known missense c.288 p.L96F 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 60 11 15.49 126 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157773703 157773703 + Missense_Mutation SNP T T C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 157773703 157773703 T C SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known missense c.251 p.Y84C 0.993 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 44 41 48.24 85 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157776818 157776818 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 157776818 157776818 C T SNP FCRL1 ENST00000480310 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FCRL1 HGNC ENSG00000163534 25 8 24.24 26 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157776889 157776889 + RNA SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 157776889 157776889 C A SNP FCRL1 ENST00000480310 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCRL1 HGNC ENSG00000163534 18 5 21.74 14 0 0.00 FCRL1 115350 genome.wustl.edu 37 1 157789795 157789795 + Splice_Site SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 157789795 157789795 A G SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known splice_site c.31+2 e1+2 1.000 - - - no_errors FCRL1 HGNC ENSG00000163534 65 10 13.33 67 0 0.00 FCRL2 79368 genome.wustl.edu 37 1 157737271 157737271 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 157737271 157737271 G A SNP FCRL2 ENST00000361516 human ensembl 70_37 -1 known silent c.912 p.L304 0.444 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 17 8 32.00 46 0 0.00 FCRL2 79368 genome.wustl.edu 37 1 157739743 157739743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157739743 157739743 C T SNP FCRL2 ENST00000361516 human ensembl 70_37 -1 known missense c.508 p.E170K 0.025 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 19 14 42.42 26 0 0.00 FCRL3 115352 genome.wustl.edu 37 1 157665960 157665960 + Missense_Mutation SNP C C G TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 157665960 157665960 C G SNP FCRL3 ENST00000368186 human ensembl 70_37 -1 known missense c.1002 p.K334N 0.024 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 19 14 42.42 42 0 0.00 FCRL3 115352 genome.wustl.edu 37 1 157667110 157667110 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 157667110 157667110 C T SNP FCRL3 ENST00000368186 human ensembl 70_37 -1 known missense c.664 p.V222I 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 78 36 31.58 71 0 0.00 FCRL4 83417 genome.wustl.edu 37 1 157551335 157551335 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 157551335 157551335 C T SNP FCRL4 ENST00000271532 human ensembl 70_37 -1 known missense c.1235 p.R412H 0.000 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC ENSG00000163518 20 8 27.59 27 0 0.00 FCRL4 83417 genome.wustl.edu 37 1 157559012 157559012 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 157559012 157559012 G A SNP FCRL4 ENST00000271532 human ensembl 70_37 -1 known missense c.289 p.R97C 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC ENSG00000163518 30 14 31.82 61 0 0.00 FCRL5 83416 genome.wustl.edu 37 1 157490282 157490282 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157490282 157490282 G A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known silent c.2571 p.L857 0.080 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 9 13 59.09 20 0 0.00 FCRL5 83416 genome.wustl.edu 37 1 157490329 157490329 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 157490329 157490329 C T SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known missense c.2524 p.A842T 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 15 4 21.05 17 0 0.00 FCRL5 83416 genome.wustl.edu 37 1 157494309 157494309 + Missense_Mutation SNP T T A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 157494309 157494309 T A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known missense c.1999 p.R667W 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 48 16 25.00 43 0 0.00 FCRL5 83416 genome.wustl.edu 37 1 157512838 157512838 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 157512838 157512838 C A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known nonsense c.934 p.E312* 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 12 9 42.86 14 0 0.00 FCRL5 83416 genome.wustl.edu 37 1 157514053 157514053 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 157514053 157514053 C G SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known missense c.843 p.Q281H 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 25 13 34.21 44 0 0.00 FCRL6 343413 genome.wustl.edu 37 1 159778006 159778006 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 159778006 159778006 G C SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.91 p.E31Q 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC ENSG00000181036 125 17 11.97 123 0 0.00 FCRL6 343413 genome.wustl.edu 37 1 159779272 159779272 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159779272 159779272 G A SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.685 p.E229K 0.175 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC ENSG00000181036 21 21 50.00 39 0 0.00 FCRL6 343413 genome.wustl.edu 37 1 159779317 159779317 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159779317 159779317 G A SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.730 p.D244N 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC ENSG00000181036 25 14 35.90 42 0 0.00 FCRLA 84824 genome.wustl.edu 37 1 161680322 161680322 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161680322 161680322 C T SNP FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FCRLA HGNC ENSG00000132185 38 14 26.92 35 0 0.00 FCRLA 84824 genome.wustl.edu 37 1 161680414 161680415 + RNA DEL AA AA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 161680414 161680415 AA - DEL FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors FCRLA HGNC ENSG00000132185 48 10 17.24 66 0 0.00 FCRLA 84824 genome.wustl.edu 37 1 161680547 161680547 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 161680547 161680547 C T SNP FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors FCRLA HGNC ENSG00000132185 44 6 12.00 58 0 0.00 FCRLB 127943 genome.wustl.edu 37 1 161697042 161697042 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 161697042 161697042 C A SNP FCRLB ENST00000367948 human ensembl 70_37 +1 known missense c.871 p.P291T 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors FCRLB HGNC ENSG00000162746 41 6 12.77 64 0 0.00 FDFT1 2222 genome.wustl.edu 37 8 11695907 11695907 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 11695907 11695907 G C SNP FDFT1 ENST00000220584 human ensembl 70_37 +1 known missense c.1043 p.R348T 0.168 superfamily_Terpenoid_synth,tigrfam_Squal_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC ENSG00000079459 19 8 29.63 32 0 0.00 FDFT1 2222 genome.wustl.edu 37 8 11696000 11696000 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 11696000 11696000 G A SNP FDFT1 ENST00000220584 human ensembl 70_37 +1 known missense c.1136 p.R379Q 1.000 NULL pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC ENSG00000079459 85 21 19.81 80 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155279951 155279951 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 155279951 155279951 G C SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.294 p.E98D 0.014 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 115 37 24.34 105 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155287807 155287807 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 155287807 155287807 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.556 p.Q186E 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 54 24 30.77 46 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155288073 155288073 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 155288073 155288073 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known silent c.675 p.L225 0.995 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 28 13 31.71 35 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155288527 155288527 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155288527 155288527 C T SNP FDPS ENST00000356657 human ensembl 70_37 +1 known silent c.756 p.V252 0.805 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 29 15 34.09 28 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155288689 155288689 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 155288689 155288689 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.816 p.F272L 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 101 16 13.68 93 0 0.00 FDPS 2224 genome.wustl.edu 37 1 155290320 155290320 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155290320 155290320 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.1180 p.L394V 0.992 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 32 5 13.51 32 0 0.00 FDXACB1 91893 genome.wustl.edu 37 11 111746780 111746780 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 111746780 111746780 C T SNP FDXACB1 ENST00000260257 human ensembl 70_37 -1 known silent c.741 p.E247 1.000 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 14 6 30.00 30 0 0.00 FDXACB1 91893 genome.wustl.edu 37 11 111749417 111749418 + Frame_Shift_Ins INS - - C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 111749417 111749418 - C INS FDXACB1 ENST00000260257 human ensembl 70_37 -1 known frame_shift_ins c.192_191 p.V65fs 0.942:0.953 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 22 4 15.38 37 0 0.00 FDXACB1 91893 genome.wustl.edu 37 11 111749420 111749420 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 111749420 111749420 G A SNP FDXACB1 ENST00000260257 human ensembl 70_37 -1 known silent c.189 p.F63 0.940 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 22 4 15.38 36 0 0.00 FDXR 2232 genome.wustl.edu 37 17 72862305 72862305 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 72862305 72862305 C T SNP FDXR ENST00000581530 human ensembl 70_37 -1 known missense c.455 p.C152Y 0.080 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 135 21 13.46 154 0 0.00 FECH 2235 genome.wustl.edu 37 18 55226399 55226399 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 18 55226399 55226399 G A SNP FECH ENST00000382873 human ensembl 70_37 -1 known missense c.800 p.S267F 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 38 19 33.33 82 0 0.00 FEM1A 55527 genome.wustl.edu 37 19 4792590 4792590 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4792590 4792590 G C SNP FEM1A ENST00000269856 human ensembl 70_37 +1 known missense c.724 p.E242Q 0.362 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 15 3 16.67 11 0 0.00 FEM1A 55527 genome.wustl.edu 37 19 4793205 4793205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4793205 4793205 C G SNP FEM1A ENST00000269856 human ensembl 70_37 +1 known missense c.1339 p.Q447E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 21 18 46.15 35 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68582020 68582020 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 68582020 68582020 C A SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known silent c.324 p.V108 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 47 16 25.40 86 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68582061 68582061 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 68582061 68582061 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.365 p.S122L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 28 15 34.88 56 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68582295 68582295 + Missense_Mutation SNP T T G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 68582295 68582295 T G SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.599 p.I200R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 13 7 35.00 38 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68582995 68582995 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 68582995 68582995 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known silent c.1299 p.V433 0.875 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 22 19 46.34 54 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68583077 68583077 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 68583077 68583077 G A SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.1381 p.E461K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 13 7 35.00 40 0 0.00 FEM1B 10116 genome.wustl.edu 37 15 68583140 68583140 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 68583140 68583140 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.1444 p.R482C 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 196 30 13.22 257 0 0.00 FEN1 2237 genome.wustl.edu 37 11 61563301 61563301 + Silent SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 61563301 61563301 C G SNP FEN1 ENST00000305885 human ensembl 70_37 +1 known silent c.468 p.P156 1.000 pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors FEN1 HGNC ENSG00000168496 14 13 48.15 26 0 0.00 FEN1 2237 genome.wustl.edu 37 11 61563334 61563334 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 61563334 61563334 G A SNP FEN1 ENST00000305885 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors FEN1 HGNC ENSG00000168496 6 4 40.00 29 0 0.00 FER 2241 genome.wustl.edu 37 5 108168644 108168644 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 108168644 108168644 G T SNP FER ENST00000281092 human ensembl 70_37 +1 known missense c.381 p.K127N 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FER HGNC ENSG00000151422 25 3 10.71 79 0 0.00 FER 2241 genome.wustl.edu 37 5 108281858 108281858 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 108281858 108281858 G T SNP FER ENST00000281092 human ensembl 70_37 +1 known nonsense c.1264 p.E422* 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FER HGNC ENSG00000151422 18 6 25.00 40 0 0.00 FER 2241 genome.wustl.edu 37 5 108521904 108521904 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 108521904 108521904 G C SNP FER ENST00000281092 human ensembl 70_37 +1 known missense c.2207 p.R736T 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FER HGNC ENSG00000151422 56 28 32.94 81 0 0.00 FER1L4 80307 genome.wustl.edu 37 20 34164119 34164119 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34164119 34164119 G C SNP FER1L4 ENST00000440443 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FER1L4 HGNC ENSG00000088340 23 13 36.11 33 0 0.00 FER1L4 80307 genome.wustl.edu 37 20 34173150 34173150 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 20 34173150 34173150 G A SNP FER1L4 ENST00000430275 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FER1L4 HGNC ENSG00000088340 85 25 22.73 34 0 0.00 FER1L4 80307 genome.wustl.edu 37 20 34191046 34191046 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34191046 34191046 C T SNP FER1L4 ENST00000430275 human ensembl 70_37 -1 known rna NULL NULL 0.107 - - - no_errors FER1L4 HGNC ENSG00000088340 25 8 24.24 34 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 124968231 124968231 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 124968231 124968231 G A SNP FER1L6 ENST00000522917 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors FER1L6 HGNC ENSG00000214814 13 6 31.58 16 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 124998367 124998367 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 124998367 124998367 G C SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known missense c.1470 p.M490I 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 50 8 13.79 21 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 124998374 124998374 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 124998374 124998374 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known missense c.1477 p.R493W 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 25 14 35.90 31 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 124998376 124998376 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 124998376 124998376 G A SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.1479 p.R493 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 43 12 21.82 21 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 125025691 125025691 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 8 125025691 125025691 G A SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.1842 p.V614 0.966 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 14 4 22.22 41 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 125035755 125035755 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 125035755 125035755 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.2205 p.I735 0.009 pfam_Ferlin_B-domain pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 51 16 23.88 77 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 125078704 125078704 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 125078704 125078704 G A SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.3591 p.R1197 0.357 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 48 17 26.15 55 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 125131950 125131950 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 125131950 125131950 C G SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.5493 p.L1831 0.851 superfamily_ABC_transptrTM_dom_typ1 pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 22 26 54.17 33 0 0.00 FER1L6 654463 genome.wustl.edu 37 8 125131974 125131974 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 125131974 125131974 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.5517 p.V1839 0.999 superfamily_ABC_transptrTM_dom_typ1 pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 20 19 48.72 28 0 0.00 FER1L6-AS2 157376 genome.wustl.edu 37 8 125072540 125072540 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 125072540 125072540 C T SNP FER1L6-AS2 ENST00000520031 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FER1L6-AS2 HGNC ENSG00000253868 54 16 22.86 64 0 0.00 FERD3L 222894 genome.wustl.edu 37 7 19184566 19184566 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 19184566 19184566 G A SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.420 p.I140 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC ENSG00000146618 17 3 15.00 38 0 0.00 FERD3L 222894 genome.wustl.edu 37 7 19184649 19184649 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 19184649 19184649 G A SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known missense c.337 p.R113W 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC ENSG00000146618 36 10 21.74 41 0 0.00 FERD3L 222894 genome.wustl.edu 37 7 19184752 19184752 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 19184752 19184752 C T SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.234 p.E78 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC ENSG00000146618 26 5 16.13 22 0 0.00 FERD3L 222894 genome.wustl.edu 37 7 19184752 19184752 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 19184752 19184752 C T SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.234 p.E78 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC ENSG00000146618 23 4 14.81 13 0 0.00 FERMT1 55612 genome.wustl.edu 37 20 6057200 6057200 + RNA SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 20 6057200 6057200 C T SNP FERMT1 ENST00000478194 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT1 HGNC ENSG00000101311 18 4 18.18 38 0 0.00 FERMT1 55612 genome.wustl.edu 37 20 6060088 6060088 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 20 6060088 6060088 G A SNP FERMT1 ENST00000217289 human ensembl 70_37 -1 known missense c.1855 p.R619W 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 41 16 28.07 78 0 0.00 FERMT1 55612 genome.wustl.edu 37 20 6088188 6088188 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 6088188 6088188 C T SNP FERMT1 ENST00000217289 human ensembl 70_37 -1 known silent c.840 p.L280 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 42 7 14.29 52 0 0.00 FERMT2 10979 genome.wustl.edu 37 14 53324533 53324533 + RNA SNP T T G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 53324533 53324533 T G SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.536 - - - no_errors FERMT2 HGNC ENSG00000073712 18 12 40.00 37 0 0.00 FERMT2 10979 genome.wustl.edu 37 14 53324870 53324870 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 53324870 53324870 C T SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT2 HGNC ENSG00000073712 19 7 26.92 17 0 0.00 FERMT2 10979 genome.wustl.edu 37 14 53327241 53327241 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 53327241 53327241 G C SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors FERMT2 HGNC ENSG00000073712 32 7 17.95 36 0 0.00 FERMT2 10979 genome.wustl.edu 37 14 53341944 53341944 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 53341944 53341944 A C SNP FERMT2 ENST00000343279 human ensembl 70_37 -1 known missense c.1095 p.I365M 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 17 18 51.43 47 0 0.00 FERMT2 10979 genome.wustl.edu 37 14 53342042 53342042 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 53342042 53342042 C G SNP FERMT2 ENST00000343279 human ensembl 70_37 -1 known missense c.997 p.E333Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 25 19 43.18 33 0 0.00 FERMT3 83706 genome.wustl.edu 37 11 63986736 63986736 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 63986736 63986736 G A SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known missense c.800 p.R267Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 48 14 22.58 60 0 0.00 FERMT3 83706 genome.wustl.edu 37 11 63986825 63986825 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 63986825 63986825 C T SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known silent c.889 p.L297 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 65 18 21.69 63 0 0.00 FERMT3 83706 genome.wustl.edu 37 11 63990556 63990556 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63990556 63990556 C T SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known silent c.1719 p.I573 0.611 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 94 36 27.69 153 1 0.65 FERMT3 83706 genome.wustl.edu 37 11 63990963 63990963 + Nonstop_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63990963 63990963 G C SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known nonstop c.2003 p.*668S 0.995 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 21 6 22.22 21 0 0.00 FERMT3 83706 genome.wustl.edu 37 11 63990963 63990963 + Nonstop_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63990963 63990963 G C SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known nonstop c.2003 p.*668S 0.995 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 9 6 40.00 21 0 0.00 FES 2242 genome.wustl.edu 37 15 91428290 91428290 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 91428290 91428290 C T SNP FES ENST00000328850 human ensembl 70_37 +1 known silent c.15 p.S5 0.022 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH,smart_FCH,pfscan_FCH pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC ENSG00000182511 52 10 16.13 79 0 0.00 FES 2242 genome.wustl.edu 37 15 91428562 91428562 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 91428562 91428562 G A SNP FES ENST00000470152 human ensembl 70_37 +1 known missense c.287 p.G96D 0.001 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors FES HGNC ENSG00000182511 50 12 19.35 82 0 0.00 FES 2242 genome.wustl.edu 37 15 91433650 91433650 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 91433650 91433650 G A SNP FES ENST00000328850 human ensembl 70_37 +1 known missense c.1256 p.G419E 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC ENSG00000182511 22 4 15.38 15 0 0.00 FES 2242 genome.wustl.edu 37 15 91437206 91437206 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 91437206 91437206 C T SNP FES ENST00000328850 human ensembl 70_37 +1 known silent c.2244 p.I748 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC ENSG00000182511 26 17 39.53 33 0 0.00 FETUB 26998 genome.wustl.edu 37 3 186358435 186358435 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 186358435 186358435 G C SNP FETUB ENST00000265029 human ensembl 70_37 +1 known silent c.186 p.L62 0.997 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 22 8 26.67 23 0 0.00 FETUB 26998 genome.wustl.edu 37 3 186364083 186364083 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 186364083 186364083 C T SNP FETUB ENST00000265029 human ensembl 70_37 +1 known missense c.641 p.S214L 1.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 142 30 17.34 117 0 0.00 FEZ1 9638 genome.wustl.edu 37 11 125315969 125315969 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 125315969 125315969 G A SNP FEZ1 ENST00000526507 human ensembl 70_37 -1 known rna NULL NULL 0.151 - - - no_errors FEZ1 HGNC ENSG00000149557 34 5 12.82 32 0 0.00 FEZ1 9638 genome.wustl.edu 37 11 125325883 125325883 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 125325883 125325883 C G SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 106 34 23.78 150 0 0.00 FEZ1 9638 genome.wustl.edu 37 11 125333410 125333410 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 125333410 125333410 G C SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known missense c.468 p.I156M 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 44 6 12.00 63 0 0.00 FEZ1 9638 genome.wustl.edu 37 11 125351442 125351442 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 125351442 125351442 G T SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known nonsense c.399 p.C133* 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 19 3 13.64 49 0 0.00 FEZ2 9637 genome.wustl.edu 37 2 36805804 36805806 + In_Frame_Del DEL TTC TTC - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 36805804 36805806 TTC - DEL FEZ2 ENST00000405912 human ensembl 70_37 -1 known in_frame_del c.839_837 p.K282in_frame_del 1.000:1.000:1.000 pfam_FEZ pfam_FEZ - no_errors FEZ2 HGNC ENSG00000171055 23 11 32.35 33 0 0.00 FEZF1 389549 genome.wustl.edu 37 7 121942387 121942387 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 121942387 121942387 C T SNP FEZF1 ENST00000442488 human ensembl 70_37 -1 known silent c.1092 p.L364 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 37 42 53.16 65 0 0.00 FEZF1 389549 genome.wustl.edu 37 7 121943727 121943727 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 121943727 121943727 G T SNP FEZF1 ENST00000442488 human ensembl 70_37 -1 known silent c.765 p.A255 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 25 4 13.79 40 0 0.00 FEZF2 55079 genome.wustl.edu 37 3 62357289 62357289 + Silent SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 62357289 62357289 G T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known silent c.906 p.A302 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 24 10 29.41 65 0 0.00 FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 62358300 62358300 C G SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 5 6 54.55 14 0 0.00 FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 62358300 62358300 C T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 8 5 38.46 11 0 0.00 FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 62358300 62358300 C T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 15 4 21.05 14 0 0.00 FFAR2 2867 genome.wustl.edu 37 19 35940660 35940660 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35940660 35940660 T G SNP FFAR2 ENST00000246549 human ensembl 70_37 +1 known missense c.44 p.I15S 0.556 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR2 HGNC ENSG00000126262 79 17 17.71 78 0 0.00 FFAR3 2865 genome.wustl.edu 37 19 35849932 35849932 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 35849932 35849932 C G SNP FFAR3 ENST00000327809 human ensembl 70_37 +1 known missense c.140 p.P47R 0.395 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR3 HGNC ENSG00000185897 101 32 24.06 225 1 0.44 FFAR3 2865 genome.wustl.edu 37 19 35850071 35850071 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 35850071 35850071 C T SNP FFAR3 ENST00000327809 human ensembl 70_37 +1 known silent c.279 p.F93 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR3 HGNC ENSG00000185897 14 5 26.32 23 0 0.00 FGA 2243 genome.wustl.edu 37 4 155505365 155505365 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 155505365 155505365 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2512 p.E838Q 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 27 11 28.95 38 0 0.00 FGA 2243 genome.wustl.edu 37 4 155505486 155505486 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 155505486 155505486 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2391 p.E797D 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 18 11 37.93 39 0 0.00 FGA 2243 genome.wustl.edu 37 4 155505632 155505632 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 155505632 155505632 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2245 p.E749Q 0.993 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 154 42 21.32 285 0 0.00 FGA 2243 genome.wustl.edu 37 4 155505632 155505632 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 155505632 155505632 C T SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2245 p.E749K 0.993 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 78 43 35.54 112 0 0.00 FGA 2243 genome.wustl.edu 37 4 155505690 155505690 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 155505690 155505690 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2187 p.E729D 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 32 21 39.62 127 0 0.00 FGA 2243 genome.wustl.edu 37 4 155506809 155506809 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 155506809 155506809 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.1772 p.R591T 0.015 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 32 16 33.33 42 0 0.00 FGD1 2245 genome.wustl.edu 37 X 54472598 54472598 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 54472598 54472598 C T SNP FGD1 ENST00000375135 human ensembl 70_37 -1 known missense c.2830 p.A944T 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 62 9 12.50 70 0 0.00 FGD1 2245 genome.wustl.edu 37 X 54497876 54497876 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 54497876 54497876 C T SNP FGD1 ENST00000375135 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 41 41 50.00 71 0 0.00 FGD2 221472 genome.wustl.edu 37 6 36979601 36979601 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 6 36979601 36979601 C T SNP FGD2 ENST00000274963 human ensembl 70_37 +1 known silent c.498 p.L166 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 57 16 21.92 73 0 0.00 FGD2 221472 genome.wustl.edu 37 6 36993679 36993679 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 36993679 36993679 G C SNP FGD2 ENST00000274963 human ensembl 70_37 +1 known missense c.1570 p.E524Q 0.979 NULL pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 28 20 41.67 64 0 0.00 FGD3 89846 genome.wustl.edu 37 9 95776211 95776211 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95776211 95776211 G C SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 23 19 45.24 29 0 0.00 FGD3 89846 genome.wustl.edu 37 9 95778055 95778055 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 95778055 95778055 C T SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.1219 p.R407W 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 50 9 15.25 46 0 0.00 FGD3 89846 genome.wustl.edu 37 9 95795112 95795112 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 95795112 95795112 G A SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.1742 p.R581K 0.738 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 18 19 51.35 31 0 0.00 FGD3 89846 genome.wustl.edu 37 9 95797696 95797696 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 95797696 95797696 C T SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.2003 p.S668L 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 65 11 14.47 102 0 0.00 FGD3 89846 genome.wustl.edu 37 9 95797815 95797815 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 9 95797815 95797815 C A SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.2122 p.Q708K 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 33 4 10.81 49 0 0.00 FGD4 121512 genome.wustl.edu 37 12 32735220 32735220 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 32735220 32735220 C T SNP FGD4 ENST00000427716 human ensembl 70_37 +1 known missense c.419 p.A140V 0.194 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 94 42 30.88 153 0 0.00 FGD5 152273 genome.wustl.edu 37 3 14860691 14860691 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 14860691 14860691 G A SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.113 p.R38Q 0.546 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 5 12 70.59 18 0 0.00 FGD5 152273 genome.wustl.edu 37 3 14861277 14861277 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 14861277 14861277 G T SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known silent c.699 p.S233 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 25 3 10.71 40 0 0.00 FGD5 152273 genome.wustl.edu 37 3 14861478 14861478 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 14861478 14861478 G T SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.900 p.E300D 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 32 5 13.51 36 0 0.00 FGD5 152273 genome.wustl.edu 37 3 14862555 14862555 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 14862555 14862555 G A SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known silent c.1977 p.L659 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 27 4 12.90 59 0 0.00 FGD5 152273 genome.wustl.edu 37 3 14862755 14862755 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 14862755 14862755 G C SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.2177 p.R726T 0.192 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 16 31 65.96 70 0 0.00 FGD5P1 100132526 genome.wustl.edu 37 3 13976047 13976047 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 13976047 13976047 G C SNP FGD5P1 ENST00000502451 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors FGD5P1 HGNC ENSG00000250439 16 7 30.43 14 0 0.00 FGD5P1 100132526 genome.wustl.edu 37 3 13976068 13976068 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 13976068 13976068 G A SNP FGD5P1 ENST00000502451 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors FGD5P1 HGNC ENSG00000250439 3 13 81.25 25 0 0.00 FGD6 55785 genome.wustl.edu 37 12 95535261 95535261 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 95535261 95535261 C G SNP FGD6 ENST00000343958 human ensembl 70_37 -1 known missense c.2740 p.E914Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 61 12 16.44 82 0 0.00 FGD6 55785 genome.wustl.edu 37 12 95604511 95604511 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 95604511 95604511 G C SNP FGD6 ENST00000343958 human ensembl 70_37 -1 known silent c.549 p.L183 0.909 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 18 8 30.77 33 0 0.00 FGF1 2246 genome.wustl.edu 37 5 141993587 141993587 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 141993587 141993587 G A SNP FGF1 ENST00000337706 human ensembl 70_37 -1 known missense c.106 p.H36Y 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF1 HGNC ENSG00000113578 88 12 12.00 122 0 0.00 FGF11 2256 genome.wustl.edu 37 17 7344828 7344828 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 7344828 7344828 C T SNP FGF11 ENST00000293829 human ensembl 70_37 +1 known missense c.232 p.R78C 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF11 HGNC ENSG00000161958 71 25 26.04 54 0 0.00 FGF12 2257 genome.wustl.edu 37 3 191888293 191888293 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 191888293 191888293 C T SNP FGF12 ENST00000454309 human ensembl 70_37 -1 known silent c.567 p.V189 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_errors FGF12 HGNC ENSG00000114279 70 56 44.44 121 1 0.82 FGF14 2259 genome.wustl.edu 37 13 102375254 102375254 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 13 102375254 102375254 G A SNP FGF14 ENST00000376131 human ensembl 70_37 -1 known missense c.686 p.T229M 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF14 HGNC ENSG00000102466 81 9 10.00 83 0 0.00 FGF14 2259 genome.wustl.edu 37 13 102520947 102520947 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 102520947 102520947 C T SNP FGF14 ENST00000468052 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FGF14 HGNC ENSG00000102466 16 4 20.00 21 0 0.00 FGF14 2259 genome.wustl.edu 37 13 102568803 102568803 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 102568803 102568803 C A SNP FGF14 ENST00000376143 human ensembl 70_37 -1 known missense c.193 p.D65Y 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF14 HGNC ENSG00000102466 37 17 31.48 88 0 0.00 FGF17 8822 genome.wustl.edu 37 8 21904123 21904123 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 21904123 21904123 G C SNP FGF17 ENST00000359441 human ensembl 70_37 +1 known missense c.336 p.K112N 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF17 HGNC ENSG00000158815 61 20 24.69 109 0 0.00 FGF18 8817 genome.wustl.edu 37 5 170876248 170876248 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 170876248 170876248 C T SNP FGF18 ENST00000274625 human ensembl 70_37 +1 known silent c.348 p.L116 0.701 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC ENSG00000156427 27 24 47.06 38 0 0.00 FGF18 8817 genome.wustl.edu 37 5 170883576 170883576 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 170883576 170883576 G A SNP FGF18 ENST00000274625 human ensembl 70_37 +1 known missense c.391 p.E131K 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC ENSG00000156427 55 33 37.50 66 0 0.00 FGF2 2247 genome.wustl.edu 37 4 123748407 123748407 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 123748407 123748407 C G SNP FGF2 ENST00000264498 human ensembl 70_37 +1 known missense c.477 p.F159L 1.000 superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF2 HGNC ENSG00000138685 25 8 24.24 43 0 0.00 FGF20 26281 genome.wustl.edu 37 8 16859521 16859521 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 16859521 16859521 G A SNP FGF20 ENST00000180166 human ensembl 70_37 -1 known silent c.21 p.V7 0.997 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF20 HGNC ENSG00000078579 46 8 14.55 41 0 0.00 FGF21 26291 genome.wustl.edu 37 19 49259545 49259545 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 49259545 49259545 C T SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known silent c.52 p.L18 0.763 superfamily_Cytokine_IL1-like,pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC ENSG00000105550 83 57 40.71 126 0 0.00 FGF21 26291 genome.wustl.edu 37 19 49260187 49260187 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 49260187 49260187 C G SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known silent c.240 p.L80 0.986 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC ENSG00000105550 137 93 40.43 314 0 0.00 FGF21 26291 genome.wustl.edu 37 19 49261353 49261353 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 49261353 49261353 G T SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known missense c.506 p.G169V 0.962 pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC ENSG00000105550 11 4 26.67 14 0 0.00 FGF22 27006 genome.wustl.edu 37 19 643436 643436 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 643436 643436 C G SNP FGF22 ENST00000215530 human ensembl 70_37 +1 known missense c.345 p.F115L 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF22 HGNC ENSG00000070388 10 6 37.50 24 0 0.00 FGF3 2248 genome.wustl.edu 37 11 69625367 69625367 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 69625367 69625367 C T SNP FGF3 ENST00000334134 human ensembl 70_37 -1 known silent c.426 p.G142 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC ENSG00000186895 32 4 11.11 32 0 0.00 FGF3 2248 genome.wustl.edu 37 11 69631089 69631089 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 69631089 69631089 G A SNP FGF3 ENST00000334134 human ensembl 70_37 -1 known missense c.323 p.S108L 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC ENSG00000186895 67 17 20.24 50 0 0.00 FGF4 2249 genome.wustl.edu 37 11 69588887 69588887 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 69588887 69588887 C T SNP FGF4 ENST00000168712 human ensembl 70_37 -1 known missense c.349 p.E117K 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF4 HGNC ENSG00000075388 18 13 41.94 41 0 0.00 FGF5 2250 genome.wustl.edu 37 4 81189522 81189522 + RNA SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 81189522 81189522 A T SNP FGF5 ENST00000503413 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FGF5 HGNC ENSG00000138675 44 27 38.03 97 0 0.00 FGF5 2250 genome.wustl.edu 37 4 81208212 81208212 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 81208212 81208212 G C SNP FGF5 ENST00000503413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FGF5 HGNC ENSG00000138675 23 7 23.33 35 0 0.00 FGF6 2251 genome.wustl.edu 37 12 4554443 4554443 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 4554443 4554443 G C SNP FGF6 ENST00000228837 human ensembl 70_37 -1 known silent c.294 p.L98 0.962 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF6 HGNC ENSG00000111241 13 8 38.10 34 0 0.00 FGF8 2253 genome.wustl.edu 37 10 103530218 103530218 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 103530218 103530218 G T SNP FGF8 ENST00000320185 human ensembl 70_37 -1 known silent c.603 p.V201 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF8 HGNC ENSG00000107831 20 4 16.67 27 0 0.00 FGF8 2253 genome.wustl.edu 37 10 103534606 103534606 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 103534606 103534606 G A SNP FGF8 ENST00000320185 human ensembl 70_37 -1 known nonsense c.220 p.Q74* 1.000 superfamily_Cytokine_IL1-like pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF8 HGNC ENSG00000107831 60 19 24.05 64 0 0.00 FGF9 2254 genome.wustl.edu 37 13 22246199 22246199 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 13 22246199 22246199 G C SNP FGF9 ENST00000382353 human ensembl 70_37 +1 known missense c.148 p.A50P 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF9 HGNC ENSG00000102678 68 25 26.60 126 0 0.00 FGF9 2254 genome.wustl.edu 37 13 22275734 22275734 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 22275734 22275734 G A SNP FGF9 ENST00000478546 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FGF9 HGNC ENSG00000102678 20 10 33.33 23 0 0.00 FGF9 2254 genome.wustl.edu 37 13 22275848 22275848 + RNA SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 13 22275848 22275848 A G SNP FGF9 ENST00000478546 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors FGF9 HGNC ENSG00000102678 22 8 26.67 23 0 0.00 FGFBP2 83888 genome.wustl.edu 37 4 15964094 15964094 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 15964094 15964094 A G SNP FGFBP2 ENST00000259989 human ensembl 70_37 -1 known missense c.659 p.F220S 0.890 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 60 26 30.23 133 1 0.75 FGFR1 2260 genome.wustl.edu 37 8 38271462 38271462 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 38271462 38271462 G A SNP FGFR1 ENST00000425967 human ensembl 70_37 -1 known missense c.2359 p.R787C 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 43 28 39.44 47 0 0.00 FGFR1OP2 26127 genome.wustl.edu 37 12 27116335 27116335 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 12 27116335 27116335 G A SNP FGFR1OP2 ENST00000229395 human ensembl 70_37 +1 known missense c.571 p.E191K 1.000 pfam_SIKE,superfamily_DNA-bd_dom_put pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 29 17 36.96 50 0 0.00 FGFR2 2263 genome.wustl.edu 37 10 123238709 123238710 + RNA INS - - A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 123238709 123238710 - A INS FGFR2 ENST00000478859 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FGFR2 HGNC ENSG00000066468 22 8 26.67 61 0 0.00 FGFR2 2263 genome.wustl.edu 37 10 123246890 123246890 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 10 123246890 123246890 C T SNP FGFR2 ENST00000457416 human ensembl 70_37 -1 known missense c.2038 p.V680I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 29 16 34.78 38 0 0.00 FGFR2 2263 genome.wustl.edu 37 10 123274794 123274794 + Missense_Mutation SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 123274794 123274794 T C SNP FGFR2 ENST00000457416 human ensembl 70_37 -1 known missense c.1127 p.Y376C 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 2 68 97.14 30 0 0.00 FGFR3 2261 genome.wustl.edu 37 4 1803224 1803224 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 1803224 1803224 C T SNP FGFR3 ENST00000340107 human ensembl 70_37 +1 known silent c.576 p.G192 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR3 HGNC ENSG00000068078 10 9 47.37 20 0 0.00 FGFR3 2261 genome.wustl.edu 37 4 1807849 1807849 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 1807849 1807849 C T SNP FGFR3 ENST00000340107 human ensembl 70_37 +1 known silent c.1914 p.F638 0.992 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR3 HGNC ENSG00000068078 27 4 12.90 33 0 0.00 FGFR4 2264 genome.wustl.edu 37 5 176523330 176523330 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 176523330 176523330 G C SNP FGFR4 ENST00000292408 human ensembl 70_37 +1 known missense c.1987 p.D663H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR4 HGNC ENSG00000160867 4 5 55.56 16 0 0.00 FGFR4 2264 genome.wustl.edu 37 5 176524393 176524393 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 176524393 176524393 G A SNP FGFR4 ENST00000292408 human ensembl 70_37 +1 known missense c.2254 p.E752K 0.998 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR4 HGNC ENSG00000160867 49 14 22.22 60 0 0.00 FGFRL1 53834 genome.wustl.edu 37 4 1018776 1018776 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 1018776 1018776 G A SNP FGFRL1 ENST00000264748 human ensembl 70_37 +1 known missense c.1156 p.G386S 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC ENSG00000127418 54 6 10.00 40 0 0.00 FGFRL1 53834 genome.wustl.edu 37 4 1018825 1018827 + In_Frame_Del DEL AGA AGA - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 1018825 1018827 AGA - DEL FGFRL1 ENST00000264748 human ensembl 70_37 +1 known in_frame_del c.1205_1207 p.K404in_frame_del 1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC ENSG00000127418 65 17 20.73 50 0 0.00 FGFRL1 53834 genome.wustl.edu 37 4 1019054 1019055 + Frame_Shift_Ins INS - - CA TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 1019054 1019055 - CA INS FGFRL1 ENST00000264748 human ensembl 70_37 +1 known frame_shift_ins c.1434_1435 p.T482fs 0.994:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC ENSG00000127418 31 8 20.51 45 0 0.00 FGFRL1 53834 genome.wustl.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 1019055 1019056 CA - DEL FGFRL1 ENST00000264748 human ensembl 70_37 +1 known frame_shift_del c.1435_1436 p.T482fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC ENSG00000127418 24 3 11.11 43 0 0.00 FGG 2266 genome.wustl.edu 37 4 155531224 155531224 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155531224 155531224 C T SNP FGG ENST00000336098 human ensembl 70_37 -1 known missense c.527 p.G176E 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC ENSG00000171557 69 19 21.35 67 0 0.00 FGGY 55277 genome.wustl.edu 37 1 60228310 60228311 + RNA INS - - TC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 60228310 60228311 - TC INS FGGY ENST00000471169 human ensembl 70_37 +1 known rna NULL NULL 0.775:0.824 - - - no_errors FGGY HGNC ENSG00000172456 24 8 25.00 13 0 0.00 FGL1 2267 genome.wustl.edu 37 8 17726235 17726235 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 17726235 17726235 C G SNP FGL1 ENST00000221204 human ensembl 70_37 -1 known missense c.601 p.E201Q 0.113 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGL1 HGNC ENSG00000104760 5 13 72.22 28 0 0.00 FGL1 2267 genome.wustl.edu 37 8 17731893 17731893 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 17731893 17731893 C A SNP FGL1 ENST00000221204 human ensembl 70_37 -1 known missense c.382 p.D128Y 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGL1 HGNC ENSG00000104760 26 22 45.83 38 0 0.00 FGR 2268 genome.wustl.edu 37 1 27941981 27941981 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27941981 27941981 C T SNP FGR ENST00000374003 human ensembl 70_37 -1 known missense c.982 p.E328K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 25 19 43.18 34 0 0.00 FGR 2268 genome.wustl.edu 37 1 27949617 27949617 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27949617 27949617 C T SNP FGR ENST00000374003 human ensembl 70_37 -1 known missense c.265 p.E89K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 36 19 34.55 66 0 0.00 FH 2271 genome.wustl.edu 37 1 241680522 241680522 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 241680522 241680522 G A SNP FH ENST00000366560 human ensembl 70_37 -1 known missense c.227 p.T76M 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 24 5 17.24 11 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15627738 15627738 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 15627738 15627738 G A SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.716 p.R239H 0.993 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 25 8 24.24 24 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15651040 15651040 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 15651040 15651040 G C SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.1458 p.E486D 0.995 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 54 13 19.40 37 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15679414 15679414 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 15679414 15679414 G T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2430 p.K810N 0.809 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 24 4 14.29 37 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15684702 15684702 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 15684702 15684702 G A SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2593 p.E865K 0.020 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 17 3 15.00 22 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15687066 15687066 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 15687066 15687066 G T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2763 p.E921D 0.007 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 15 8 34.78 18 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15701058 15701058 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 15701058 15701058 C T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known nonsense c.3442 p.Q1148* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 11 15 57.69 40 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15707266 15707266 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 15707266 15707266 G A SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.3709 p.E1237K 0.976 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 7 25 78.12 10 0 0.00 FHAD1 114827 genome.wustl.edu 37 1 15708573 15708573 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 15708573 15708573 G C SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.4006 p.E1336Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 26 18 40.91 24 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153864376 153864376 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 153864376 153864376 C T SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.167 p.S56F 0.475 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 30 10 25.00 38 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153864414 153864414 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 153864414 153864414 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.205 p.E69K 0.822 superfamily_FH2_actin-bd pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 23 13 36.11 37 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153893649 153893649 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 153893649 153893649 C G SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.1339 p.Q447E 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 45 21 31.82 60 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153893681 153893681 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 153893681 153893681 C G SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.1371 p.N457K 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 45 28 38.36 63 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153896449 153896449 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 153896449 153896449 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.2006 p.G669E 0.407 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 14 11 44.00 19 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153896463 153896463 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 153896463 153896463 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.2020 p.E674K 0.998 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 14 12 46.15 23 0 0.00 FHDC1 85462 genome.wustl.edu 37 4 153897850 153897850 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 153897850 153897850 G C SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.3407 p.R1136T 0.051 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 41 9 18.00 63 0 0.00 FHIT 2272 genome.wustl.edu 37 3 59737842 59737842 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 59737842 59737842 C T SNP FHIT ENST00000466788 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FHIT HGNC ENSG00000189283 27 19 41.30 39 0 0.00 FHL1 2273 genome.wustl.edu 37 X 135289174 135289174 + Splice_Site SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 135289174 135289174 G A SNP FHL1 ENST00000345434 human ensembl 70_37 +1 known splice_site c.157-1 e2-1 1.000 - - - no_errors FHL1 HGNC ENSG00000022267 21 9 30.00 21 0 0.00 FHL1 2273 genome.wustl.edu 37 X 135291510 135291510 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 135291510 135291510 G A SNP FHL1 ENST00000345434 human ensembl 70_37 +1 known missense c.797 p.R266Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 28 9 24.32 41 0 0.00 FHL3 2275 genome.wustl.edu 37 1 38465035 38465035 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38465035 38465035 C T SNP FHL3 ENST00000373016 human ensembl 70_37 -1 known missense c.50 p.R17H 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 67 22 24.72 107 0 0.00 FHL3 2275 genome.wustl.edu 37 1 38471151 38471151 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 38471151 38471151 G A SNP FHL3 ENST00000475084 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors FHL3 HGNC ENSG00000183386 29 24 45.28 14 0 0.00 FHL5 9457 genome.wustl.edu 37 6 97058570 97058570 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 97058570 97058570 C G SNP FHL5 ENST00000326771 human ensembl 70_37 +1 known missense c.627 p.F209L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 44 12 21.43 76 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67263777 67263777 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 67263777 67263777 G C SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.3331 p.L1111V 0.955 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 52 28 35.00 52 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67264035 67264035 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67264035 67264035 G T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.3148 p.H1050N 0.055 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 27 12 30.77 51 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67264118 67264118 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67264118 67264118 G C SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known nonsense c.3065 p.S1022* 0.541 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 21 5 19.23 31 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67265247 67265247 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 67265247 67265247 G A SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.2511 p.S837 0.874 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 34 7 17.07 26 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67268080 67268080 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67268080 67268080 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.1526 p.R509Q 0.001 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 48 22 31.43 57 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67268278 67268278 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 67268278 67268278 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.1417 p.E473K 0.578 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 33 12 26.67 61 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67271211 67271211 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 67271211 67271211 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.924 p.A308 0.000 superfamily_ARM-type_fold pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 11 19 63.33 24 0 0.00 FHOD1 29109 genome.wustl.edu 37 16 67271211 67271211 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 67271211 67271211 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.924 p.A308 0.000 superfamily_ARM-type_fold pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 31 32 50.00 80 0 0.00 FHOD3 80206 genome.wustl.edu 37 18 34339099 34339099 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 34339099 34339099 G T SNP FHOD3 ENST00000590592 human ensembl 70_37 +1 putative missense c.4444 p.V1482F 0.354 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 37 5 11.90 57 0 0.00 FIBP 9158 genome.wustl.edu 37 11 65653836 65653836 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 65653836 65653836 C T SNP FIBP ENST00000338369 human ensembl 70_37 -1 known missense c.469 p.D157N 0.900 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 23 13 36.11 44 0 0.00 FICD 11153 genome.wustl.edu 37 12 108912198 108912198 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 108912198 108912198 C A SNP FICD ENST00000552695 human ensembl 70_37 +1 known missense c.323 p.A108D 0.999 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 34 4 10.53 30 0 0.00 FIG4 9896 genome.wustl.edu 37 6 110037666 110037666 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 110037666 110037666 G A SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.184 p.E62K 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 63 22 25.88 104 0 0.00 FIG4 9896 genome.wustl.edu 37 6 110087939 110087939 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110087939 110087939 G C SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.1591 p.E531Q 1.000 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 47 26 35.62 80 0 0.00 FIG4 9896 genome.wustl.edu 37 6 110107615 110107615 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 110107615 110107615 G C SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.2059 p.D687H 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 46 34 42.50 67 0 0.00 FIG4 9896 genome.wustl.edu 37 6 110146303 110146303 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 110146303 110146303 G A SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known silent c.2559 p.S853 0.327 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 18 3 14.29 37 0 0.00 FIGF 2277 genome.wustl.edu 37 X 15376224 15376224 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 15376224 15376224 G T SNP FIGF ENST00000297904 human ensembl 70_37 -1 known missense c.393 p.F131L 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors FIGF HGNC ENSG00000165197 41 21 33.87 64 0 0.00 FIGN 55137 genome.wustl.edu 37 2 164466975 164466975 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 164466975 164466975 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known missense c.1367 p.S456F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 150 76 33.48 88 0 0.00 FIGN 55137 genome.wustl.edu 37 2 164467451 164467451 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 164467451 164467451 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known silent c.891 p.G297 0.998 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 20 6 23.08 41 0 0.00 FIGN 55137 genome.wustl.edu 37 2 164468163 164468163 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 164468163 164468163 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known missense c.179 p.S60F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 38 12 24.00 84 0 0.00 FILIP1 27145 genome.wustl.edu 37 6 76022902 76022902 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 76022902 76022902 G A SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known silent c.2646 p.I882 0.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 50 15 23.08 71 0 0.00 FILIP1 27145 genome.wustl.edu 37 6 76023430 76023430 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 76023430 76023430 C T SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known silent c.2118 p.L706 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 74 34 31.48 141 0 0.00 FILIP1 27145 genome.wustl.edu 37 6 76072464 76072464 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 76072464 76072464 G T SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known nonsense c.446 p.S149* 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 47 14 22.95 93 0 0.00 FILIP1 27145 genome.wustl.edu 37 6 76124534 76124534 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 76124534 76124534 G C SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known nonsense c.155 p.S52* 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 43 12 21.82 72 0 0.00 FILIP1L 11259 genome.wustl.edu 37 3 99567248 99567248 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 99567248 99567248 C T SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.3272 p.R1091Q 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 148 63 29.86 239 0 0.00 FILIP1L 11259 genome.wustl.edu 37 3 99567710 99567710 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 99567710 99567710 G A SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.2810 p.P937L 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 199 35 14.96 124 0 0.00 FILIP1L 11259 genome.wustl.edu 37 3 99567922 99567922 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 99567922 99567922 C T SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.2598 p.M866I 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 117 43 26.88 142 0 0.00 FILIP1L 11259 genome.wustl.edu 37 3 99569565 99569565 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 99569565 99569565 G C SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.955 p.Q319E 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 263 92 25.92 356 0 0.00 FIP1L1 81608 genome.wustl.edu 37 4 54245406 54245406 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 54245406 54245406 G C SNP FIP1L1 ENST00000337488 human ensembl 70_37 +1 known missense c.145 p.E49Q 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 47 25 34.25 47 0 0.00 FIP1L1 81608 genome.wustl.edu 37 4 54319101 54319101 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 54319101 54319101 C T SNP FIP1L1 ENST00000337488 human ensembl 70_37 +1 known missense c.1300 p.L434F 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 133 24 15.29 150 0 0.00 FIP1L1 81608 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 70_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 29 4 12.12 59 0 0.00 FIS1 51024 genome.wustl.edu 37 7 100883427 100883427 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100883427 100883427 C G SNP FIS1 ENST00000223136 human ensembl 70_37 -1 known missense c.357 p.K119N 1.000 pirsf_Tetratricopeptide_rpt_11_Fis1 pirsf_Tetratricopeptide_rpt_11_Fis1 - no_errors FIS1 HGNC ENSG00000214253 41 28 40.58 46 0 0.00 FITM1 161247 genome.wustl.edu 37 14 24601589 24601589 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24601589 24601589 G A SNP FITM1 ENST00000267426 human ensembl 70_37 +1 known missense c.436 p.E146K 1.000 pfam_FIT pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 13 8 38.10 34 0 0.00 FIZ1 84922 genome.wustl.edu 37 19 56104929 56104929 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 56104929 56104929 G C SNP FIZ1 ENST00000221665 human ensembl 70_37 -1 known silent c.378 p.L126 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 59 33 35.87 44 0 0.00 FJX1 24147 genome.wustl.edu 37 11 35641435 35641435 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 35641435 35641435 C T SNP FJX1 ENST00000317811 human ensembl 70_37 +1 known silent c.1251 p.L417 0.998 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 10 13 56.52 8 0 0.00 FJX1 24147 genome.wustl.edu 37 11 35642192 35642192 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 35642192 35642192 C G SNP FJX1 ENST00000532914 human ensembl 70_37 +1 putative rna NULL NULL 0.824 - - - no_errors FJX1 HGNC ENSG00000179431 25 4 13.79 46 0 0.00 FJX1 24147 genome.wustl.edu 37 11 35642248 35642248 + RNA DEL A A - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 35642248 35642248 A - DEL FJX1 ENST00000532914 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FJX1 HGNC ENSG00000179431 23 3 11.54 18 0 0.00 FKBP10 60681 genome.wustl.edu 37 17 39973375 39973375 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39973375 39973375 G A SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.311 p.R104Q 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 44 13 22.81 48 0 0.00 FKBP10 60681 genome.wustl.edu 37 17 39974356 39974356 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 39974356 39974356 C T SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.407 p.P136L 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 6 53 89.83 57 0 0.00 FKBP10 60681 genome.wustl.edu 37 17 39975837 39975837 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 39975837 39975837 G T SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.973 p.G325W 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 23 4 14.81 33 0 0.00 FKBP10 60681 genome.wustl.edu 37 17 39977282 39977282 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 39977282 39977282 G A SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.1340 p.C447Y 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 32 17 34.69 72 0 0.00 FKBP15 23307 genome.wustl.edu 37 9 115932861 115932861 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 115932861 115932861 C G SNP FKBP15 ENST00000238256 human ensembl 70_37 -1 known missense c.2707 p.E903Q 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 31 49 61.25 41 0 0.00 FKBP15 23307 genome.wustl.edu 37 9 115947059 115947059 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 115947059 115947059 G C SNP FKBP15 ENST00000238256 human ensembl 70_37 -1 known silent c.1524 p.L508 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 20 12 37.50 33 0 0.00 FKBP15 23307 genome.wustl.edu 37 9 115950806 115950806 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 115950806 115950806 C T SNP FKBP15 ENST00000489645 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP15 HGNC ENSG00000119321 41 7 14.58 36 0 0.00 FKBP1A 2280 genome.wustl.edu 37 20 1350326 1350326 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 1350326 1350326 A C SNP FKBP1A ENST00000460490 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP1A HGNC ENSG00000088832 4 5 55.56 20 0 0.00 FKBP1A 2280 genome.wustl.edu 37 20 1350367 1350367 + RNA DEL C C - TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 20 1350367 1350367 C - DEL FKBP1A ENST00000460490 human ensembl 70_37 -1 known rna NULL NULL 0.107 - - - no_errors FKBP1A HGNC ENSG00000088832 17 7 29.17 11 0 0.00 FKBP2 2286 genome.wustl.edu 37 11 64010730 64010730 + Silent SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 64010730 64010730 C A SNP FKBP2 ENST00000309366 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC ENSG00000173486 18 18 50.00 36 0 0.00 FKBP2 2286 genome.wustl.edu 37 11 64011488 64011488 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 64011488 64011488 G T SNP FKBP2 ENST00000309366 human ensembl 70_37 +1 known missense c.416 p.R139L 0.238 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC ENSG00000173486 17 7 29.17 23 0 0.00 FKBP4 2288 genome.wustl.edu 37 12 2904331 2904331 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 2904331 2904331 C T SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.26 p.T9I 0.625 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 13 17 56.67 11 0 0.00 FKBP4 2288 genome.wustl.edu 37 12 2907010 2907011 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 2907010 2907011 - C INS FKBP4 ENST00000001008 human ensembl 70_37 +1 known frame_shift_ins c.366_367 p.N124fs 0.968:1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 81 27 25.00 109 0 0.00 FKBP4 2288 genome.wustl.edu 37 12 2908402 2908402 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2908402 2908402 C G SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known silent c.663 p.L221 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 111 32 22.38 149 1 0.67 FKBP4 2288 genome.wustl.edu 37 12 2909265 2909265 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 2909265 2909265 G C SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.823 p.E275Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 53 12 18.46 47 0 0.00 FKBP4 2288 genome.wustl.edu 37 12 2910358 2910358 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 2910358 2910358 G A SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.1108 p.E370K 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 50 7 12.28 66 0 0.00 FKBP5 2289 genome.wustl.edu 37 6 35587911 35587911 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35587911 35587911 C G SNP FKBP5 ENST00000337746 human ensembl 70_37 -1 known missense c.391 p.E131Q 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 90 23 20.35 121 0 0.00 FKBP6 8468 genome.wustl.edu 37 7 72754676 72754676 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 72754676 72754676 G A SNP FKBP6 ENST00000252037 human ensembl 70_37 +1 known missense c.625 p.E209K 0.038 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 30 17 36.17 28 0 0.00 FKBP7 51661 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 26 5 16.13 35 0 0.00 FKBP7 51661 genome.wustl.edu 37 2 179330622 179330622 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 179330622 179330622 C T SNP FKBP7 ENST00000424785 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 26 18 40.91 55 0 0.00 FKBP7 51661 genome.wustl.edu 37 2 179343117 179343117 + Missense_Mutation SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 179343117 179343117 A G SNP FKBP7 ENST00000424785 human ensembl 70_37 -1 known missense c.110 p.I37T 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 104 58 35.80 189 1 0.52 FKBP8 23770 genome.wustl.edu 37 19 18643524 18643524 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 18643524 18643524 G T SNP FKBP8 ENST00000453489 human ensembl 70_37 -1 known missense c.1189 p.L397M 1.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 32 18 36.00 58 0 0.00 FKBP8 23770 genome.wustl.edu 37 19 18643565 18643565 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 18643565 18643565 G A SNP FKBP8 ENST00000453489 human ensembl 70_37 -1 known missense c.1148 p.A383V 0.995 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 52 25 32.47 67 0 0.00 FKBP9 11328 genome.wustl.edu 37 7 33014871 33014871 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 33014871 33014871 C T SNP FKBP9 ENST00000538336 human ensembl 70_37 +1 known nonsense c.604 p.Q202* 1.000 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 68 10 12.66 92 0 0.00 FKBP9 11328 genome.wustl.edu 37 7 33042416 33042416 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 33042416 33042416 G C SNP FKBP9 ENST00000538336 human ensembl 70_37 +1 known missense c.1660 p.D554H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 66 51 43.59 125 1 0.79 FKBPL 63943 genome.wustl.edu 37 6 32096556 32096556 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32096556 32096556 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known silent c.1002 p.K334 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 66 14 17.50 80 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32096939 32096939 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32096939 32096939 C A SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known nonsense c.619 p.E207* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 21 7 25.00 19 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32096940 32096940 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32096940 32096940 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known silent c.618 p.K206 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 21 7 25.00 19 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32097077 32097077 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32097077 32097077 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.481 p.E161Q 0.994 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 38 9 19.15 53 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32097077 32097077 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 32097077 32097077 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.481 p.E161Q 0.994 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 18 28 60.87 31 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32097143 32097143 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.415 p.E139Q 0.999 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 29 7 19.44 36 0 0.00 FKBPL 63943 genome.wustl.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32097143 32097143 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.415 p.E139K 0.999 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 30 9 23.08 53 0 0.00 FKRP 79147 genome.wustl.edu 37 19 47258885 47258885 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47258885 47258885 G C SNP FKRP ENST00000318584 human ensembl 70_37 +1 known missense c.178 p.D60H 1.000 NULL pfam_LicD - no_errors FKRP HGNC ENSG00000181027 29 20 40.82 75 0 0.00 FKRP 79147 genome.wustl.edu 37 19 47259271 47259272 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 47259271 47259272 - C INS FKRP ENST00000318584 human ensembl 70_37 +1 known frame_shift_ins c.564_565 p.R189fs 0.000:0.062 NULL pfam_LicD - no_errors FKRP HGNC ENSG00000181027 4 2 33.33 9 0 0.00 FKTN 2218 genome.wustl.edu 37 9 108337407 108337407 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 108337407 108337407 T C SNP FKTN ENST00000223528 human ensembl 70_37 +1 known silent c.94 p.L32 1.000 NULL pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 51 16 23.88 53 0 0.00 FKTN 2218 genome.wustl.edu 37 9 108358965 108358965 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 108358965 108358965 C T SNP FKTN ENST00000490134 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FKTN HGNC ENSG00000106692 30 18 37.50 33 0 0.00 FLAD1 80308 genome.wustl.edu 37 1 154960571 154960571 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154960571 154960571 C G SNP FLAD1 ENST00000405236 human ensembl 70_37 +1 known missense c.66 p.F22L 0.004 smart_Mopterin-bd pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 49 33 40.24 97 0 0.00 FLAD1 80308 genome.wustl.edu 37 1 154961004 154961004 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154961004 154961004 G T SNP FLAD1 ENST00000292180 human ensembl 70_37 +1 known nonsense c.796 p.E266* 1.000 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 52 6 10.34 46 0 0.00 FLAD1 80308 genome.wustl.edu 37 1 154961012 154961012 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154961012 154961012 G A SNP FLAD1 ENST00000292180 human ensembl 70_37 +1 known missense c.804 p.M268I 0.069 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 49 6 10.91 41 0 0.00 FLCN 201163 genome.wustl.edu 37 17 17124884 17124884 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 17124884 17124884 C T SNP FLCN ENST00000285071 human ensembl 70_37 -1 known missense c.838 p.E280K 0.998 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 85 10 10.53 60 0 0.00 FLCN 201163 genome.wustl.edu 37 17 17127274 17127274 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 17 17127274 17127274 G A SNP FLCN ENST00000285071 human ensembl 70_37 -1 known missense c.580 p.R194W 0.992 pfam_Folliculin pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 9 8 47.06 28 0 0.00 FLG 2312 genome.wustl.edu 37 1 152275379 152275379 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152275379 152275379 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11983 p.Q3995E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 50 6 10.71 41 0 0.00 FLG 2312 genome.wustl.edu 37 1 152275919 152275919 + Missense_Mutation SNP T T A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 152275919 152275919 T A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11443 p.N3815Y 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 185 44 19.21 208 0 0.00 FLG 2312 genome.wustl.edu 37 1 152276263 152276263 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152276263 152276263 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11099 p.S3700L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 201 28 12.23 108 0 0.00 FLG 2312 genome.wustl.edu 37 1 152276866 152276866 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152276866 152276866 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.10496 p.S3499C 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 214 70 24.65 236 1 0.42 FLG 2312 genome.wustl.edu 37 1 152277071 152277071 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 152277071 152277071 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.10291 p.Q3431* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 275 31 10.13 261 0 0.00 FLG 2312 genome.wustl.edu 37 1 152277550 152277550 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 152277550 152277550 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.9812 p.S3271C 0.002 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 196 23 10.50 180 0 0.00 FLG 2312 genome.wustl.edu 37 1 152277562 152277562 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152277562 152277562 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.9800 p.S3267F 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 187 71 27.41 241 0 0.00 FLG 2312 genome.wustl.edu 37 1 152278472 152278472 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 152278472 152278472 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8890 p.A2964T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 19 5 20.83 26 0 0.00 FLG 2312 genome.wustl.edu 37 1 152278555 152278555 + Missense_Mutation SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 152278555 152278555 T C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8807 p.D2936G 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 8 11 57.89 9 0 0.00 FLG 2312 genome.wustl.edu 37 1 152278983 152278983 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 152278983 152278983 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8379 p.S2793R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 146 27 15.52 114 0 0.00 FLG 2312 genome.wustl.edu 37 1 152279231 152279231 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152279231 152279231 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8131 p.G2711R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 58 8 12.12 66 0 0.00 FLG 2312 genome.wustl.edu 37 1 152279239 152279239 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 152279239 152279239 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8123 p.S2708L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 23 7 23.33 37 0 0.00 FLG 2312 genome.wustl.edu 37 1 152279801 152279801 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152279801 152279801 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.7561 p.E2521K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 167 67 28.63 190 0 0.00 FLG 2312 genome.wustl.edu 37 1 152280708 152280708 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 152280708 152280708 G T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.6654 p.D2218E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 112 39 25.49 118 0 0.00 FLG 2312 genome.wustl.edu 37 1 152281070 152281070 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 152281070 152281070 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.6292 p.E2098K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 279 142 33.73 422 0 0.00 FLG 2312 genome.wustl.edu 37 1 152281157 152281157 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 152281157 152281157 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.6205 p.Q2069* 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 312 72 18.70 393 0 0.00 FLG 2312 genome.wustl.edu 37 1 152281552 152281552 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 152281552 152281552 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.5810 p.S1937C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 89 30 25.21 138 0 0.00 FLG 2312 genome.wustl.edu 37 1 152281894 152281894 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 152281894 152281894 C A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.5468 p.G1823V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 610 270 30.65 861 0 0.00 FLG 2312 genome.wustl.edu 37 1 152282256 152282256 + Silent SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 152282256 152282256 A G SNP FLG ENST00000368799 human ensembl 70_37 -1 known silent c.5106 p.D1702 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 165 56 25.23 145 0 0.00 FLG 2312 genome.wustl.edu 37 1 152284387 152284387 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152284387 152284387 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2975 p.R992K 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 161 101 38.55 207 0 0.00 FLG 2312 genome.wustl.edu 37 1 152284693 152284693 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 152284693 152284693 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2669 p.R890K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 23 28 54.90 32 0 0.00 FLG 2312 genome.wustl.edu 37 1 152284693 152284693 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 152284693 152284693 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2669 p.R890K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 251 358 58.69 449 0 0.00 FLG 2312 genome.wustl.edu 37 1 152285314 152285314 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 152285314 152285314 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2048 p.R683H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 147 132 47.31 185 0 0.00 FLG 2312 genome.wustl.edu 37 1 152286055 152286055 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 152286055 152286055 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.1307 p.S436* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 282 52 15.48 291 0 0.00 FLG 2312 genome.wustl.edu 37 1 152287172 152287172 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152287172 152287172 C G SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.190 p.D64H 0.979 pfscan_EF_HAND_2 pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 36 5 12.20 31 0 0.00 FLG 2312 genome.wustl.edu 37 1 152287815 152287815 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 152287815 152287815 C G SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.118 p.E40Q 0.002 pfam_S100_Ca-bd_sub pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 74 10 11.90 69 0 0.00 FLG 2312 genome.wustl.edu 37 1 152287917 152287917 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 152287917 152287917 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.16 p.E6K 0.881 pfam_S100_Ca-bd_sub pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 51 9 15.00 42 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152324211 152324211 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 152324211 152324211 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.6051 p.Q2017H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 126 24 16.00 192 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152324999 152324999 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 152324999 152324999 G C SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.5263 p.Q1755E 0.752 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 58 13 18.31 100 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152325017 152325017 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 152325017 152325017 G A SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.5245 p.H1749Y 0.024 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 66 14 17.28 108 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152326402 152326402 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152326402 152326402 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.3860 p.R1287K 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 91 52 36.36 230 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152327330 152327330 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152327330 152327330 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.2932 p.E978K 0.392 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 93 66 41.51 135 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152327647 152327647 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 152327647 152327647 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.2615 p.G872A 0.024 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 168 63 27.27 198 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152327738 152327738 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 152327738 152327738 G A SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known nonsense c.2524 p.Q842* 0.056 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 70 19 21.35 120 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152328793 152328793 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 152328793 152328793 G C SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.1469 p.S490C 0.893 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 79 24 23.30 63 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152328935 152328935 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152328935 152328935 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.1327 p.E443K 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 27 10 25.64 43 0 0.00 FLG2 388698 genome.wustl.edu 37 1 152329907 152329907 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152329907 152329907 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.355 p.E119Q 0.990 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 227 58 20.35 230 0 0.00 FLI1 2313 genome.wustl.edu 37 11 128675282 128675282 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 128675282 128675282 G A SNP FLI1 ENST00000429175 human ensembl 70_37 +1 known missense c.677 p.R226K 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 22 22 50.00 28 0 0.00 FLII 2314 genome.wustl.edu 37 17 18150641 18150641 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 18150641 18150641 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.2518 p.D840N 0.998 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 22 11 33.33 47 0 0.00 FLII 2314 genome.wustl.edu 37 17 18158564 18158564 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 18158564 18158564 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.260 p.R87Q 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 18 12 38.71 38 0 0.00 FLII 2314 genome.wustl.edu 37 17 18160237 18160237 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 18160237 18160237 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.160 p.A54T 0.531 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 39 11 22.00 60 0 0.00 FLJ12825 440101 genome.wustl.edu 37 12 54515302 54515302 + RNA SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 54515302 54515302 T C SNP FLJ12825 ENST00000515617 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-834C11.3 Clone_based_vega_gene ENSG00000248265 23 7 23.33 23 0 0.00 FLJ12825 440101 genome.wustl.edu 37 12 54515536 54515536 + RNA DEL C C - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 54515536 54515536 C - DEL FLJ12825 ENST00000515617 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-834C11.3 Clone_based_vega_gene ENSG00000248265 10 3 23.08 22 0 0.00 FLJ16171 441116 genome.wustl.edu 37 5 174422444 174422444 + RNA SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 5 174422444 174422444 G A SNP FLJ16171 ENST00000377300 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-281M20.1 Clone_based_vega_gene ENSG00000204754 31 30 49.18 103 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7935863 7935863 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 7935863 7935863 G T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.2267 p.P756H 0.136 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 40 7 14.89 36 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7935874 7935874 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7935874 7935874 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.2256 p.L752 0.340 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 19 6 24.00 22 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7935943 7935943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7935943 7935943 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.2187 p.L729 0.002 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 40 18 31.03 59 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7936531 7936531 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 7936531 7936531 G T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.1599 p.A533 0.005 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 27 4 12.90 34 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7937597 7937597 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 19 7937597 7937597 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.533 p.R178H 0.958 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 0 3 100.00 8 0 0.00 FLJ22184 80164 genome.wustl.edu 37 19 7938348 7938348 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7938348 7938348 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.227 p.R76Q 0.000 NULL NULL - no_errors FLJ22184 Uniprot_genename ENSG00000183248 10 7 41.18 23 0 0.00 FLJ22763 401081 genome.wustl.edu 37 3 108867262 108867262 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 108867262 108867262 C T SNP FLJ22763 ENST00000467240 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-59E19.1 Clone_based_vega_gene ENSG00000241224 27 21 43.75 29 0 0.00 FLJ22763 401081 genome.wustl.edu 37 3 108868763 108868763 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 108868763 108868763 A G SNP FLJ22763 ENST00000467240 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-59E19.1 Clone_based_vega_gene ENSG00000241224 27 20 42.55 44 0 0.00 LINC00905 148231 genome.wustl.edu 37 19 16146459 16146459 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16146459 16146459 G A SNP FLJ25328 ENST00000397365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC114273.1 Clone_based_vega_gene ENSG00000167459 31 28 47.46 48 0 0.00 LINC00905 148231 genome.wustl.edu 37 19 16146741 16146741 + RNA SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 16146741 16146741 G C SNP FLJ25328 ENST00000397365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC114273.1 Clone_based_vega_gene ENSG00000167459 17 6 26.09 55 0 0.00 FLJ26245 400533 genome.wustl.edu 37 16 34982740 34982740 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 34982740 34982740 G A SNP FLJ26245 ENST00000565625 human ensembl 70_37 +1 known rna NULL NULL 0.692 - - - no_errors RP11-352B15.1 Clone_based_vega_gene ENSG00000261122 26 8 23.53 31 0 0.00 FLJ26850 400710 genome.wustl.edu 37 19 50553866 50553866 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50553866 50553866 C G SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 20 6 22.22 27 0 0.00 FLJ26850 400710 genome.wustl.edu 37 19 50553883 50553883 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 50553883 50553883 C A SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 28 6 17.65 29 0 0.00 FLJ26850 400710 genome.wustl.edu 37 19 50554229 50554229 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50554229 50554229 G A SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 64 19 22.89 62 0 0.00 FLJ32955 150596 genome.wustl.edu 37 2 150714717 150714717 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 150714717 150714717 C T SNP FLJ32955 ENST00000295052 human ensembl 70_37 -1 known rna NULL NULL 0.075 - - - no_errors AC007364.1 Clone_based_vega_gene ENSG00000162947 18 8 30.77 25 0 0.00 FLJ33360 401172 genome.wustl.edu 37 5 6312144 6312144 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 6312144 6312144 G T SNP FLJ33360 ENST00000507444 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 39 25 39.06 40 0 0.00 FLJ33534 285150 genome.wustl.edu 37 2 11268861 11268861 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 11268861 11268861 A G SNP FLJ33534 ENST00000396164 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC062028.1 Clone_based_vega_gene ENSG00000145063 44 26 37.14 56 0 0.00 FLJ35390 0 genome.wustl.edu 37 7 44079130 44079130 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 44079130 44079130 C T SNP FLJ35390 ENST00000441052 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors AC017116.8 Clone_based_vega_gene ENSG00000235314 44 28 38.89 57 0 0.00 FLJ35390 0 genome.wustl.edu 37 7 44079656 44079656 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44079656 44079656 G C SNP FLJ35390 ENST00000416824 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors AC017116.8 Clone_based_vega_gene ENSG00000235314 25 6 19.35 37 0 0.00 FLJ35390 0 genome.wustl.edu 37 7 44081437 44081437 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 44081437 44081437 G A SNP FLJ35390 ENST00000441052 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC017116.8 Clone_based_vega_gene ENSG00000235314 135 40 22.60 69 0 0.00 FLJ35946 0 genome.wustl.edu 37 5 98106447 98106447 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 98106447 98106447 C A SNP FLJ35946 ENST00000498871 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTC-463N11.3 Clone_based_vega_gene ENSG00000246763 12 5 29.41 30 0 0.00 FLJ36000 284124 genome.wustl.edu 37 17 21906549 21906549 + RNA SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 21906549 21906549 C T SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 29 10 25.64 14 0 0.00 FLJ36000 284124 genome.wustl.edu 37 17 21910820 21910820 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 21910820 21910820 G A SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 2 3 60.00 8 0 0.00 FLJ36000 284124 genome.wustl.edu 37 17 21911084 21911084 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 21911084 21911084 C T SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.145 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 16 5 23.81 18 0 0.00 FLJ36000 284124 genome.wustl.edu 37 17 21911182 21911182 + RNA SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 21911182 21911182 G A SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 7 6 46.15 9 0 0.00 FLJ37453 729614 genome.wustl.edu 37 1 16161772 16161772 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16161772 16161772 C T SNP FLJ37453 ENST00000317122 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-169K16.9 Clone_based_vega_gene ENSG00000179743 11 10 47.62 36 0 0.00 KIF9-AS1 285352 genome.wustl.edu 37 3 47281584 47281584 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 47281584 47281584 G C SNP FLJ39534 ENST00000429315 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-447D11.2 Clone_based_vega_gene ENSG00000227398 7 5 41.67 19 0 0.00 KIF9-AS1 285352 genome.wustl.edu 37 3 47284477 47284477 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 47284477 47284477 C G SNP FLJ39534 ENST00000429315 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-447D11.2 Clone_based_vega_gene ENSG00000227398 39 15 27.78 45 0 0.00 FLJ40194 124871 genome.wustl.edu 37 17 47329722 47329722 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 47329722 47329722 C T SNP FLJ40194 ENST00000322227 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-62O9.3 Clone_based_vega_gene ENSG00000177369 38 24 38.71 68 0 0.00 FLJ40448 0 genome.wustl.edu 37 16 88809355 88809355 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 88809355 88809355 G T SNP FLJ40448 ENST00000333666 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene ENSG00000182376 17 14 45.16 35 0 0.00 FLJ40448 0 genome.wustl.edu 37 16 88809798 88809798 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88809798 88809798 C T SNP FLJ40448 ENST00000333666 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene ENSG00000182376 37 10 21.28 45 0 0.00 LINC00951 401260 genome.wustl.edu 37 6 40312275 40312275 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 40312275 40312275 G A SNP FLJ41649 ENST00000373171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-552E20.3 Clone_based_vega_gene ENSG00000204092 7 5 41.67 31 0 0.00 LINC00951 401260 genome.wustl.edu 37 6 40312384 40312384 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 40312384 40312384 C G SNP FLJ41649 ENST00000373171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-552E20.3 Clone_based_vega_gene ENSG00000204092 17 15 46.88 30 0 0.00 FLJ41733 400870 genome.wustl.edu 37 21 44786177 44786177 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 44786177 44786177 C T SNP FLJ41733 ENST00000435702 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AP001046.6 Clone_based_vega_gene ENSG00000225637 26 25 49.02 19 0 0.00 FLJ42627 645644 genome.wustl.edu 37 16 2608019 2608019 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2608019 2608019 C T SNP FLJ42627 ENST00000562485 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-20I23.8 Clone_based_vega_gene ENSG00000261613 32 24 42.86 42 0 0.00 FLJ42627 645644 genome.wustl.edu 37 16 2608028 2608028 + RNA SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 16 2608028 2608028 C T SNP FLJ42627 ENST00000562485 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-20I23.8 Clone_based_vega_gene ENSG00000261613 67 20 22.99 70 0 0.00 FLJ42627 645644 genome.wustl.edu 37 16 2613067 2613067 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 2613067 2613067 T C SNP FLJ42627 ENST00000569852 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-20I23.8 Clone_based_vega_gene ENSG00000261613 14 11 44.00 14 0 0.00 NR2F1-AS1 441094 genome.wustl.edu 37 5 92879247 92879248 + RNA INS - - A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 92879247 92879248 - A INS FLJ42709 ENST00000503134 human ensembl 70_37 -1 known rna NULL NULL 0.009:0.001 - - - no_errors RP11-65F13.2 Clone_based_vega_gene ENSG00000237187 46 6 11.54 37 0 0.00 NR2F1-AS1 441094 genome.wustl.edu 37 5 92879626 92879626 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 92879626 92879626 C A SNP FLJ42709 ENST00000503134 human ensembl 70_37 -1 known rna NULL NULL 0.060 - - - no_errors RP11-65F13.2 Clone_based_vega_gene ENSG00000237187 26 3 10.34 40 0 0.00 LINC00982 440556 genome.wustl.edu 37 1 2979414 2979414 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 2979414 2979414 C A SNP FLJ42875 ENST00000321399 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene ENSG00000177133 18 20 52.63 53 0 0.00 LINC00982 440556 genome.wustl.edu 37 1 2979482 2979482 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 2979482 2979482 C T SNP FLJ42875 ENST00000321399 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene ENSG00000177133 13 20 60.61 24 0 0.00 LINC00982 440556 genome.wustl.edu 37 1 2984087 2984087 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 2984087 2984087 C T SNP FLJ42875 ENST00000321336 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene ENSG00000177133 14 10 41.67 37 0 0.00 FLJ45139 0 genome.wustl.edu 37 21 40250361 40250362 + RNA INS - - AA TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 21 40250361 40250362 - AA INS FLJ45139 ENST00000380931 human ensembl 70_37 -1 known rna NULL NULL 0.011:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 45 9 16.67 11 0 0.00 FLJ45139 0 genome.wustl.edu 37 21 40251736 40251736 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 40251736 40251736 T C SNP FLJ45139 ENST00000380931 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 28 108 79.41 40 0 0.00 FLJ45256 0 genome.wustl.edu 37 16 24674572 24674572 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 24674572 24674572 G A SNP FLJ45256 ENST00000414816 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 8 4 30.77 21 0 0.00 FLJ45256 0 genome.wustl.edu 37 16 24675235 24675235 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 24675235 24675235 C T SNP FLJ45256 ENST00000414816 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 2 4 66.67 11 0 0.00 FLJ45832 400841 genome.wustl.edu 37 20 29516567 29516567 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 29516567 29516567 G A SNP FLJ45832 ENST00000380888 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 38 29 43.28 37 0 0.00 FLJ45832 400841 genome.wustl.edu 37 20 29516772 29516772 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 29516772 29516772 G A SNP FLJ45832 ENST00000380888 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 47 6 11.32 37 0 0.00 FLJ46257 0 genome.wustl.edu 37 22 48026582 48026582 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 48026582 48026582 C T SNP FLJ46257 ENST00000380990 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-191L9.6 Clone_based_vega_gene ENSG00000205634 35 29 45.31 31 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153579990 153579990 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 153579990 153579990 G T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6982 p.P2328T 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 59 14 19.18 65 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153580009 153580009 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153580009 153580009 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.6963 p.F2321 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 35 15 29.41 72 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153580315 153580315 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 153580315 153580315 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6844 p.E2282K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 88 15 14.29 92 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153581031 153581031 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153581031 153581031 G T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6392 p.S2131Y 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 24 16 40.00 54 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153581709 153581709 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 X 153581709 153581709 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.5977 p.R1993W 0.971 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 49 14 22.22 92 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153582057 153582057 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153582057 153582057 C G SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.5725 p.E1909Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 31 29 48.33 46 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153582588 153582588 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 153582588 153582588 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.5488 p.V1830M 0.999 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 47 15 24.19 95 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153585975 153585975 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 153585975 153585975 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.4772 p.P1591L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 33 6 15.38 27 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153589834 153589834 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 153589834 153589834 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.3049 p.P1017S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 49 17 25.76 60 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153590069 153590069 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153590069 153590069 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.2913 p.L971 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 40 9 18.37 60 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153590890 153590890 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153590890 153590890 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.2461 p.D821N 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 132 47 26.26 198 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153594730 153594730 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 153594730 153594730 C G SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.1174 p.E392Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 73 24 24.74 128 0 0.00 FLNA 2316 genome.wustl.edu 37 X 153599551 153599551 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153599551 153599551 G C SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.63 p.V21 0.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 10 8 44.44 22 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58062875 58062875 + Missense_Mutation SNP G G T TCGA-C5-A2LY-01A-31D-A18J-09 TCGA-C5-A2LY-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 047f9e4d-86b5-4943-aef5-68199bf29e8c 433b41e8-d79a-4da0-a700-821cd97cc1b9 3 58062875 58062875 G T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.395 p.G132V 1.000 superfamily_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 25 3 10.71 103 1 0.96 FLNB 2317 genome.wustl.edu 37 3 58098016 58098016 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58098016 58098016 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.2716 p.H906Y 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 17 6 26.09 29 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58109198 58109198 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 58109198 58109198 G A SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.3505 p.E1169K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 55 15 21.43 39 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58109341 58109341 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58109341 58109341 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known silent c.3648 p.F1216 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 12 7 36.84 17 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58110095 58110095 + Missense_Mutation SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 58110095 58110095 A G SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.3761 p.D1254G 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 40 9 18.37 58 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58116576 58116576 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 58116576 58116576 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.4331 p.T1444M 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 41 15 26.79 47 0 0.00 FLNB 2317 genome.wustl.edu 37 3 58127612 58127612 + Nonsense_Mutation SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 3 58127612 58127612 G T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known nonsense c.5137 p.E1713* 0.963 pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 127 18 12.41 164 1 0.61 FLNB 2317 genome.wustl.edu 37 3 58135868 58135868 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 58135868 58135868 G A SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.6281 p.R2094K 1.000 superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 59 22 27.16 93 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128475570 128475570 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 128475570 128475570 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.543 p.F181 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 28 8 21.62 57 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128477264 128477264 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 128477264 128477264 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.652 p.A218T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 36 8 18.18 43 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128480702 128480702 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 128480702 128480702 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.1650 p.T550 0.001 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 33 16 32.65 23 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128481359 128481359 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128481359 128481359 G C SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.1949 p.R650P 0.997 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 313 83 20.96 414 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128483349 128483349 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 128483349 128483349 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.2617 p.E873K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 15 21 58.33 33 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128486083 128486083 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128486083 128486083 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.3830 p.A1277V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 19 15 44.12 30 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128486140 128486140 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 128486140 128486140 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.3887 p.S1296L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 12 13 52.00 36 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128486419 128486419 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 128486419 128486419 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.4029 p.G1343 0.517 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 47 12 20.34 46 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128488853 128488853 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 128488853 128488853 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.4744 p.E1582K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 40 9 18.37 52 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128489420 128489420 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 128489420 128489420 G T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known nonsense c.4987 p.E1663* 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 44 25 36.23 79 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128490064 128490064 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 128490064 128490064 C G SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.5234 p.S1745C 0.025 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 10 15 60.00 32 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128492713 128492713 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 128492713 128492713 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.5911 p.E1971K 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 52 27 34.18 68 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128492756 128492756 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 128492756 128492756 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.5954 p.S1985L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 19 45 70.31 51 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128494890 128494890 + Silent SNP T T C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 7 128494890 128494890 T C SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.7059 p.G2353 0.270 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 17 9 33.33 29 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128498202 128498202 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 128498202 128498202 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.7921 p.R2641W 0.923 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 23 16 41.03 77 0 0.00 FLNC 2318 genome.wustl.edu 37 7 128498544 128498544 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 128498544 128498544 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.8145 p.V2715 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 80 11 12.09 92 0 0.00 FLOT2 2319 genome.wustl.edu 37 17 27209040 27209040 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 27209040 27209040 C T SNP FLOT2 ENST00000394908 human ensembl 70_37 -1 known missense c.706 p.E236K 1.000 smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 18 8 30.77 42 0 0.00 FLOT2 2319 genome.wustl.edu 37 17 27211323 27211323 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27211323 27211323 C G SNP FLOT2 ENST00000394908 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 22 4 15.38 33 0 0.00 FLRT1 23769 genome.wustl.edu 37 11 63884108 63884108 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 63884108 63884108 C G SNP FLRT1 ENST00000246841 human ensembl 70_37 +1 known missense c.369 p.I123M 0.979 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 7 7 50.00 17 0 0.00 FLRT1 23769 genome.wustl.edu 37 11 63885113 63885113 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 63885113 63885113 G A SNP FLRT1 ENST00000246841 human ensembl 70_37 +1 known silent c.1374 p.T458 0.002 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 16 4 20.00 17 0 0.00 FLRT2 23768 genome.wustl.edu 37 14 86087985 86087985 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 86087985 86087985 G A SNP FLRT2 ENST00000330753 human ensembl 70_37 +1 known missense c.127 p.D43N 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 49 10 16.95 52 0 0.00 FLRT2 23768 genome.wustl.edu 37 14 86089523 86089523 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 86089523 86089523 G A SNP FLRT2 ENST00000330753 human ensembl 70_37 +1 known silent c.1665 p.L555 0.045 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 17 3 15.00 49 0 0.00 FLRT2 23768 genome.wustl.edu 37 14 86092301 86092301 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 86092301 86092301 C T SNP FLRT2 ENST00000553650 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 17 3 15.00 31 0 0.00 FLRT2 23768 genome.wustl.edu 37 14 86092305 86092305 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 86092305 86092305 G T SNP FLRT2 ENST00000553650 human ensembl 70_37 +1 putative rna NULL NULL 0.027 - - - no_errors FLRT2 HGNC ENSG00000185070 17 6 26.09 21 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28886206 28886206 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 28886206 28886206 C G SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.3416 p.R1139T 0.963 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 28 16 36.36 41 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28895716 28895716 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 28895716 28895716 G A SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.3058 p.H1020Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 14 9 39.13 29 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28901605 28901605 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 28901605 28901605 G C SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known silent c.2790 p.L930 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 27 20 42.55 36 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28919631 28919631 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 28919631 28919631 G A SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.2306 p.A769V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 13 3 18.75 23 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28942801 28942801 + Splice_Site SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 28942801 28942801 C G SNP FLT1 ENST00000541932 human ensembl 70_37 -1 known splice_site c.2117-1 e15-1 0.006 - - - no_errors FLT1 HGNC ENSG00000102755 32 7 17.95 32 0 0.00 FLT1 2321 genome.wustl.edu 37 13 28979985 28979985 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 28979985 28979985 C T SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.1483 p.D495N 0.011 smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 47 17 26.56 49 0 0.00 FLT1 2321 genome.wustl.edu 37 13 29012465 29012465 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 29012465 29012465 C T SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.406 p.V136I 0.994 prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 41 13 24.07 41 0 0.00 FLT1 2321 genome.wustl.edu 37 13 29041146 29041146 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 29041146 29041146 C G SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.282 p.L94F 0.991 smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 44 15 25.42 85 0 0.00 FLT3 2322 genome.wustl.edu 37 13 28601288 28601288 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 28601288 28601288 G A SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known missense c.2144 p.T715I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 22 30 57.69 62 0 0.00 FLT3 2322 genome.wustl.edu 37 13 28608102 28608102 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 28608102 28608102 C T SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known missense c.1864 p.G622R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 61 14 18.67 73 0 0.00 FLT3 2322 genome.wustl.edu 37 13 28608483 28608483 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 28608483 28608483 G T SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known silent c.1659 p.L553 0.610 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 59 15 20.27 42 0 0.00 FLT3 2322 genome.wustl.edu 37 13 28631600 28631600 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 28631600 28631600 C T SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known splice_site c.369-1 e4-1 1.000 - - - no_errors FLT3 HGNC ENSG00000122025 21 14 40.00 42 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180041165 180041165 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 5 180041165 180041165 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known silent c.3234 p.L1078 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 74 16 17.78 91 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180043928 180043928 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 180043928 180043928 C G SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.3068 p.R1023T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 28 18 39.13 44 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180043956 180043956 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 180043956 180043956 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.3040 p.L1014F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 20 18 47.37 37 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180047610 180047610 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 180047610 180047610 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.2405 p.R802K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 6 9 60.00 18 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180056292 180056292 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180056292 180056292 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.952 p.R318* 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 32 17 34.69 31 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180056292 180056292 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180056292 180056292 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.952 p.R318* 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 41 15 26.79 52 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180056320 180056320 + Nonsense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180056320 180056320 A C SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.924 p.Y308* 0.044 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 35 16 31.37 53 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180057000 180057000 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 180057000 180057000 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.619 p.E207K 0.973 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 35 9 20.45 98 0 0.00 FLT4 2324 genome.wustl.edu 37 5 180058719 180058719 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 5 180058719 180058719 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.118 p.V40I 0.937 smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 25 16 39.02 73 0 0.00 FLVCR1-AS1 642946 genome.wustl.edu 37 1 213029993 213029993 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 213029993 213029993 C G SNP FLVCR1-AS1 ENST00000424044 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FLVCR1-AS1 HGNC ENSG00000198468 52 19 26.76 45 0 0.00 FLVCR1-AS1 642946 genome.wustl.edu 37 1 213031340 213031340 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 213031340 213031340 C G SNP FLVCR1-AS1 ENST00000356684 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors FLVCR1-AS1 HGNC ENSG00000198468 13 10 43.48 14 0 0.00 FLYWCH1 84256 genome.wustl.edu 37 16 2986312 2986312 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 2986312 2986312 C G SNP FLYWCH1 ENST00000570752 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FLYWCH1 HGNC ENSG00000059122 95 42 30.66 137 0 0.00 FLYWCH2 114984 genome.wustl.edu 37 16 2948899 2948899 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 2948899 2948899 G A SNP FLYWCH2 ENST00000572786 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLYWCH2 HGNC ENSG00000162076 10 4 28.57 10 0 0.00 FMN1 342184 genome.wustl.edu 37 15 33261392 33261392 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 33261392 33261392 G T SNP FMN1 ENST00000334528 human ensembl 70_37 -1 known missense c.1841 p.S614Y 0.989 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 13 10 43.48 32 0 0.00 FMN1 342184 genome.wustl.edu 37 15 33359498 33359498 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 33359498 33359498 C A SNP FMN1 ENST00000334528 human ensembl 70_37 -1 known missense c.588 p.M196I 0.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 55 24 30.38 106 0 0.00 FMN1 342184 genome.wustl.edu 37 15 33445566 33445566 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 33445566 33445566 G A SNP FMN1 ENST00000320930 human ensembl 70_37 -1 known missense c.1550 p.T517M 0.007 NULL NULL - no_errors FMN1 HGNC ENSG00000248905 36 10 21.74 60 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240255561 240255561 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 240255561 240255561 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.152 p.G51E 1.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 8 8 50.00 27 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 240255569 240255571 GGC - DEL FMN2 ENST00000319653 human ensembl 70_37 +1 known in_frame_del c.160_162 p.G57in_frame_del 0.957:0.122:0.017 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 9 4 30.77 11 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240255683 240255683 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 240255683 240255683 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.274 p.G92S 0.990 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 52 32 38.10 96 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240256018 240256018 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 240256018 240256018 C G SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.609 p.I203M 0.864 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 38 5 11.63 37 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240256097 240256097 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 240256097 240256097 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.688 p.E230K 0.093 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 23 10 30.30 31 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240256491 240256491 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 240256491 240256491 C T SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1082 p.S361F 0.930 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 1 9 90.00 11 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240256666 240256666 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 240256666 240256666 C G SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1257 p.I419M 1.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 38 16 29.63 50 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240256841 240256841 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 240256841 240256841 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1432 p.G478S 0.996 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 11 9 42.86 19 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240421305 240421305 + Missense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 240421305 240421305 C A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.4126 p.H1376N 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 53 10 15.62 48 0 0.00 FMN2 56776 genome.wustl.edu 37 1 240497525 240497525 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 240497525 240497525 G T SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.4761 p.L1587F 0.992 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 32 8 20.00 37 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43314692 43314692 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43314692 43314692 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.768 p.E256D 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 65 40 38.10 51 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43314951 43314951 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43314951 43314951 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.839 p.C280S 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 72 35 32.71 69 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43315977 43315977 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 43315977 43315977 G A SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.941 p.R314Q 0.996 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 29 11 27.50 65 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43319240 43319240 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 43319240 43319240 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.1612 p.P538S 0.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 10 5 33.33 8 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43320550 43320550 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43320550 43320550 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known silent c.2076 p.L692 0.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 28 34 54.84 33 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43322670 43322670 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43322670 43322670 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2779 p.E927Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 14 16 53.33 22 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43322670 43322670 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 43322670 43322670 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2779 p.E927Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 38 6 13.64 24 0 0.00 FMNL1 752 genome.wustl.edu 37 17 43323080 43323080 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 43323080 43323080 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2974 p.R992C 0.991 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC ENSG00000184922 22 8 26.67 31 0 0.00 FMNL3 91010 genome.wustl.edu 37 12 50047597 50047597 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 50047597 50047597 C T SNP FMNL3 ENST00000293590 human ensembl 70_37 -1 known missense c.1132 p.V378M 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 58 37 38.95 102 0 0.00 FMNL3 91010 genome.wustl.edu 37 12 50059693 50059693 + Splice_Site SNP T T G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50059693 50059693 T G SNP FMNL3 ENST00000293590 human ensembl 70_37 -1 known splice_site c.292-2 e4-2 1.000 - - - no_errors FMNL3 HGNC ENSG00000161791 10 7 41.18 34 0 0.00 FMO1 2326 genome.wustl.edu 37 1 171239751 171239751 + RNA SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 171239751 171239751 T G SNP FMO1 ENST00000469112 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors FMO1 HGNC ENSG00000010932 28 10 26.32 14 0 0.00 FMO1 2326 genome.wustl.edu 37 1 171244493 171244493 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 171244493 171244493 C G SNP FMO1 ENST00000354841 human ensembl 70_37 +1 known silent c.330 p.V110 0.998 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 27 15 35.71 67 0 0.00 FMO1 2326 genome.wustl.edu 37 1 171244628 171244628 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 171244628 171244628 G C SNP FMO1 ENST00000354841 human ensembl 70_37 +1 known missense c.465 p.L155F 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 40 31 43.66 45 0 0.00 FMO2 2327 genome.wustl.edu 37 1 171165850 171165850 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 171165850 171165850 C T SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known silent c.384 p.V128 0.001 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 91 48 34.53 122 1 0.81 FMO2 2327 genome.wustl.edu 37 1 171165874 171165874 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 171165874 171165874 G A SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known silent c.408 p.Q136 0.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 53 32 37.65 99 0 0.00 FMO2 2327 genome.wustl.edu 37 1 171173052 171173052 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 171173052 171173052 G A SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known missense c.676 p.E226K 0.953 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 62 22 26.19 68 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146658596 146658596 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 146658596 146658596 G C SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.1485 p.I495M 0.950 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 19 20 51.28 54 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146672800 146672800 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 146672800 146672800 G A SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known nonsense c.1117 p.Q373* 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 30 24 44.44 40 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146672888 146672888 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 146672888 146672888 G C SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known silent c.1029 p.V343 0.997 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 20 10 32.26 30 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146672991 146672991 + Missense_Mutation SNP T T A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 146672991 146672991 T A SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.926 p.E309V 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 22 6 21.43 27 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146680530 146680530 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 146680530 146680530 A G SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known silent c.714 p.S238 0.013 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 28 19 40.43 49 0 0.00 FMO5 2330 genome.wustl.edu 37 1 146687380 146687380 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 146687380 146687380 C G SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 202 40 16.53 166 0 0.00 FMO6P 388714 genome.wustl.edu 37 1 171121215 171121215 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 171121215 171121215 G C SNP FMO6P ENST00000236166 human ensembl 70_37 +1 novel missense c.994 p.D332H 0.069 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO6P HGNC ENSG00000117507 66 32 32.65 104 1 0.95 FMO9P 116123 genome.wustl.edu 37 1 166581802 166581802 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 166581802 166581802 G C SNP FMO9P ENST00000477875 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FMO9P HGNC ENSG00000215834 46 14 23.33 65 0 0.00 FMOD 2331 genome.wustl.edu 37 1 203316711 203316711 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 203316711 203316711 G C SNP FMOD ENST00000354955 human ensembl 70_37 -1 known missense c.688 p.L230V 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 22 7 24.14 65 0 0.00 FMOD 2331 genome.wustl.edu 37 1 203316850 203316850 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 203316850 203316850 G A SNP FMOD ENST00000354955 human ensembl 70_37 -1 known silent c.549 p.L183 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 32 4 11.11 20 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147010263 147010263 + Silent SNP A A G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 147010263 147010263 A G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known silent c.357 p.K119 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 67 15 12.61 54 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147011666 147011666 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 147011666 147011666 C G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known nonsense c.533 p.S178* 0.018 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 42 21 33.33 97 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147014007 147014007 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 147014007 147014007 C G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.694 p.L232V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 28 13 31.71 68 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147025129 147025129 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 147025129 147025129 G T SNP FMR1 ENST00000492846 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FMR1 HGNC ENSG00000102081 32 4 11.11 25 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147026442 147026442 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 147026442 147026442 G A SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.1525 p.E509K 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 24 3 11.11 14 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147027065 147027065 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 147027065 147027065 C T SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.1666 p.H556Y 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 32 9 21.95 43 0 0.00 FMR1 2332 genome.wustl.edu 37 X 147027159 147027159 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 147027159 147027159 C A SNP FMR1 ENST00000478848 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FMR1 HGNC ENSG00000102081 22 7 24.14 61 0 0.00 FMR1NB 158521 genome.wustl.edu 37 X 147090178 147090178 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 147090178 147090178 C G SNP FMR1NB ENST00000370467 human ensembl 70_37 +1 known missense c.579 p.I193M 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 92 29 23.97 150 0 0.00 FN1 2335 genome.wustl.edu 37 2 216226710 216226710 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 216226710 216226710 G A SNP FN1 ENST00000354785 human ensembl 70_37 -1 known silent c.7344 p.Y2448 1.000 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 24 27 52.94 86 0 0.00 FN1 2335 genome.wustl.edu 37 2 216235148 216235148 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 216235148 216235148 A G SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.6722 p.V2241A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 44 10 17.86 63 0 0.00 FN1 2335 genome.wustl.edu 37 2 216239952 216239952 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 216239952 216239952 C T SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.6142 p.E2048K 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 27 27 50.00 80 0 0.00 FN1 2335 genome.wustl.edu 37 2 216242904 216242904 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 216242904 216242904 G C SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.5704 p.L1902V 0.924 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 12 5 29.41 45 0 0.00 FN1 2335 genome.wustl.edu 37 2 216272840 216272840 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 216272840 216272840 G A SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.2509 p.P837S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 19 27 57.45 17 0 0.00 FN1 2335 genome.wustl.edu 37 2 216272840 216272840 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 216272840 216272840 G A SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.2509 p.P837S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 49 93 65.49 148 0 0.00 FN1 2335 genome.wustl.edu 37 2 216272872 216272872 + Nonsense_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 216272872 216272872 G C SNP FN1 ENST00000354785 human ensembl 70_37 -1 known nonsense c.2477 p.S826* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 16 26 61.90 21 0 0.00 FN1 2335 genome.wustl.edu 37 2 216272872 216272872 + Nonsense_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 216272872 216272872 G C SNP FN1 ENST00000354785 human ensembl 70_37 -1 known nonsense c.2477 p.S826* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 61 93 60.39 123 0 0.00 FN1 2335 genome.wustl.edu 37 2 216298069 216298069 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 216298069 216298069 C G SNP FN1 ENST00000354785 human ensembl 70_37 -1 known silent c.393 p.G131 0.171 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 109 52 32.30 78 0 0.00 FN3K 64122 genome.wustl.edu 37 17 80706805 80706805 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 80706805 80706805 G A SNP FN3K ENST00000300784 human ensembl 70_37 +1 known silent c.543 p.E181 1.000 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 7 26 78.79 80 0 0.00 FN3KRP 79672 genome.wustl.edu 37 17 80684800 80684800 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 80684800 80684800 C G SNP FN3KRP ENST00000269373 human ensembl 70_37 +1 known missense c.683 p.S228C 0.011 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3KRP HGNC ENSG00000141560 57 7 10.94 88 0 0.00 FNBP1 23048 genome.wustl.edu 37 9 132658209 132658209 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 132658209 132658209 C T SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.1754 p.G585D 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 67 31 31.63 93 0 0.00 FNBP1 23048 genome.wustl.edu 37 9 132665165 132665165 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 132665165 132665165 C G SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.1411 p.E471Q 0.999 superfamily_HR1_rho-bd pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 34 25 42.37 50 0 0.00 FNBP1 23048 genome.wustl.edu 37 9 132665171 132665171 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 132665171 132665171 G A SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known nonsense c.1405 p.R469* 0.866 superfamily_HR1_rho-bd pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 35 14 28.57 58 0 0.00 FNBP1 23048 genome.wustl.edu 37 9 132687391 132687391 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 132687391 132687391 G C SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.835 p.P279A 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 43 17 28.33 38 0 0.00 FNBP1L 54874 genome.wustl.edu 37 1 93988993 93988993 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 93988993 93988993 G T SNP FNBP1L ENST00000271234 human ensembl 70_37 +1 known missense c.287 p.R96I 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 31 10 23.81 44 0 0.00 FNBP4 23360 genome.wustl.edu 37 11 47758253 47758253 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 47758253 47758253 G A SNP FNBP4 ENST00000263773 human ensembl 70_37 -1 known missense c.1496 p.S499L 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC ENSG00000109920 37 23 38.33 50 0 0.00 FNBP4 23360 genome.wustl.edu 37 11 47765561 47765561 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47765561 47765561 G C SNP FNBP4 ENST00000263773 human ensembl 70_37 -1 known missense c.1400 p.S467C 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC ENSG00000109920 55 12 17.91 62 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159621085 159621085 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 159621085 159621085 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.362 p.R121H 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 42 7 14.29 88 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159644608 159644608 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 159644608 159644608 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.815 p.S272L 0.102 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 74 27 26.73 70 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159653912 159653912 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 159653912 159653912 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.2368 p.G790S 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 58 28 32.18 79 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159654069 159654069 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 159654069 159654069 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.2525 p.R842Q 0.022 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 11 5 31.25 21 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159655334 159655334 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 159655334 159655334 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.3790 p.R1264C 0.004 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 7 4 36.36 9 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159660765 159660765 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 159660765 159660765 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.4397 p.P1466L 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 104 83 44.39 187 0 0.00 FNDC1 84624 genome.wustl.edu 37 6 159682278 159682278 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 159682278 159682278 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.5231 p.S1744L 0.031 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 76 17 18.28 55 0 0.00 FNDC3A 22862 genome.wustl.edu 37 13 49772229 49772229 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 49772229 49772229 G A SNP FNDC3A ENST00000492622 human ensembl 70_37 +1 known missense c.2602 p.E868K 1.000 smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 12 12 50.00 17 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 171969126 171969126 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 171969126 171969126 G A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.585 p.L195 0.995 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 22 4 15.38 39 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 171969135 171969135 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 171969135 171969135 C A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.594 p.R198 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 39 16 29.09 54 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 172016570 172016570 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 172016570 172016570 C T SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known missense c.1054 p.H352Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 11 6 35.29 20 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 172052756 172052757 + Frame_Shift_Ins INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 172052756 172052757 - A INS FNDC3B ENST00000336824 human ensembl 70_37 +1 known frame_shift_ins c.1664_1665 p.S557fs 1.000:0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 62 12 16.22 21 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 172052800 172052800 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 172052800 172052800 G C SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known missense c.1708 p.D570H 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 116 21 15.33 59 0 0.00 FNDC3B 64778 genome.wustl.edu 37 3 172058910 172058910 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 172058910 172058910 G A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.1860 p.Q620 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 179 21 10.50 158 0 0.00 FNDC4 64838 genome.wustl.edu 37 2 27717491 27717491 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27717491 27717491 G A SNP FNDC4 ENST00000264703 human ensembl 70_37 -1 known missense c.56 p.S19L 0.991 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 17 15 46.88 23 0 0.00 FNDC5 252995 genome.wustl.edu 37 1 33330060 33330060 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33330060 33330060 C A SNP FNDC5 ENST00000496770 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors FNDC5 HGNC ENSG00000160097 5 9 64.29 8 0 0.00 FNDC7 163479 genome.wustl.edu 37 1 109264980 109264980 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 109264980 109264980 C A SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.625 p.Q209K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 33 20 37.74 40 0 0.00 FNDC7 163479 genome.wustl.edu 37 1 109276098 109276098 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109276098 109276098 C T SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.2087 p.S696L 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 23 6 20.69 28 0 0.00 FNDC7 163479 genome.wustl.edu 37 1 109284418 109284418 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 109284418 109284418 G A SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.2197 p.E733K 0.995 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 55 28 33.73 80 0 0.00 FNDC9 408263 genome.wustl.edu 37 5 156769931 156769931 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 156769931 156769931 G T SNP FNDC9 ENST00000312349 human ensembl 70_37 -1 known missense c.614 p.A205E 0.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 19 4 17.39 32 0 0.00 FNDC9 408263 genome.wustl.edu 37 5 156770011 156770011 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 156770011 156770011 G A SNP FNDC9 ENST00000312349 human ensembl 70_37 -1 known silent c.534 p.L178 1.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 133 15 10.07 126 0 0.00 FNIP2 57600 genome.wustl.edu 37 4 159789475 159789475 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 159789475 159789475 G C SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.1756 p.E586Q 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 19 15 44.12 31 0 0.00 FNIP2 57600 genome.wustl.edu 37 4 159789970 159789970 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 159789970 159789970 G C SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.2251 p.E751Q 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 10 5 33.33 38 0 0.00 FNIP2 57600 genome.wustl.edu 37 4 159789974 159789974 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 159789974 159789974 C G SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.2255 p.S752C 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 22 12 35.29 17 0 0.00 FNTA 2339 genome.wustl.edu 37 8 42927367 42927367 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 42927367 42927367 C G SNP FNTA ENST00000302279 human ensembl 70_37 +1 known missense c.550 p.Q184E 1.000 pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 159 44 21.67 220 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20740313 20740313 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 20740313 20740313 G T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.366 p.K122N 0.444 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 20 5 20.00 32 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20764941 20764941 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 20764941 20764941 G T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known nonsense c.568 p.E190* 1.000 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 15 12 44.44 74 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20770100 20770100 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 20770100 20770100 C T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.769 p.H257Y 0.977 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 56 40 41.67 76 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20862593 20862593 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 20862593 20862593 C G SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.1937 p.S646C 1.000 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 54 45 45.45 105 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20929372 20929372 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 20929372 20929372 G A SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.3094 p.E1032K 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 47 18 27.69 68 0 0.00 FOCAD 54914 genome.wustl.edu 37 9 20929595 20929595 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 9 20929595 20929595 G T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.3317 p.S1106I 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 34 4 10.53 32 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 48 6 11.11 43 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 39 6 13.33 27 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 33 4 10.53 46 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49207317 49207317 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 49207317 49207317 C T SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known missense c.730 p.D244N 0.995 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 21 17 44.74 57 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49221891 49221891 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 49221891 49221891 C T SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.327 p.E109 0.997 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 99 62 38.51 155 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49221932 49221932 + Missense_Mutation SNP T T A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 49221932 49221932 T A SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known missense c.286 p.I96F 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 34 38 52.78 75 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49221981 49221981 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 49221981 49221981 C G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known missense c.237 p.Q79H 0.969 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 108 22 16.92 159 0 0.00 FOLH1 2346 genome.wustl.edu 37 11 49228337 49228337 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 49228337 49228337 C G SNP FOLH1 ENST00000340334 human ensembl 70_37 -1 putative missense c.66 p.E22D 0.059 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 34 13 27.66 63 0 0.00 FOLH1B 219595 genome.wustl.edu 37 11 89392702 89392702 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89392702 89392702 C A SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors FOLH1B HGNC ENSG00000134612 15 3 16.67 31 0 0.00 FOLH1B 219595 genome.wustl.edu 37 11 89392796 89392796 + RNA SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 11 89392796 89392796 G A SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.884 - - - no_errors FOLH1B HGNC ENSG00000134612 68 9 11.54 84 0 0.00 FOLH1B 219595 genome.wustl.edu 37 11 89395390 89395390 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 89395390 89395390 A G SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FOLH1B HGNC ENSG00000134612 26 14 35.00 68 0 0.00 FOLH1B 219595 genome.wustl.edu 37 11 89424627 89424627 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 89424627 89424627 C G SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 18 7 28.00 38 0 0.00 FOLR1 2348 genome.wustl.edu 37 11 71903284 71903284 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71903284 71903284 C T SNP FOLR1 ENST00000312293 human ensembl 70_37 +1 known nonsense c.67 p.Q23* 0.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 121 39 24.38 179 0 0.00 FOLR1 2348 genome.wustl.edu 37 11 71903325 71903325 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71903325 71903325 C G SNP FOLR1 ENST00000312293 human ensembl 70_37 +1 known silent c.108 p.V36 0.990 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 115 40 25.81 173 0 0.00 FOLR1 2348 genome.wustl.edu 37 11 71907080 71907080 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 71907080 71907080 G C SNP FOLR1 ENST00000312293 human ensembl 70_37 +1 known missense c.633 p.Q211H 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 38 11 22.45 65 0 0.00 FOLR3 2352 genome.wustl.edu 37 11 71850074 71850074 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 71850074 71850074 C T SNP FOLR3 ENST00000456237 human ensembl 70_37 +1 known missense c.364 p.P122S 0.964 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 58 33 36.26 69 0 0.00 FOS 2353 genome.wustl.edu 37 14 75747316 75747316 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 75747316 75747316 G A SNP FOS ENST00000303562 human ensembl 70_37 +1 known missense c.447 p.M149I 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC ENSG00000170345 56 19 25.33 62 0 0.00 FOS 2353 genome.wustl.edu 37 14 75747739 75747739 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 75747739 75747739 C T SNP FOS ENST00000303562 human ensembl 70_37 +1 known missense c.755 p.S252L 0.976 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC ENSG00000170345 58 8 12.12 70 0 0.00 FOSB 2354 genome.wustl.edu 37 19 45974502 45974502 + Missense_Mutation SNP A A C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 19 45974502 45974502 A C SNP FOSB ENST00000353609 human ensembl 70_37 +1 known missense c.498 p.K166N 0.985 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 7 4 36.36 17 0 0.00 FOSB 2354 genome.wustl.edu 37 19 45975845 45975845 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 45975845 45975845 G C SNP FOSB ENST00000353609 human ensembl 70_37 +1 known missense c.592 p.E198Q 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 56 11 16.42 70 0 0.00 FOSB 2354 genome.wustl.edu 37 19 45976112 45976112 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 45976112 45976112 C G SNP FOSB ENST00000353609 human ensembl 70_37 +1 known missense c.859 p.Q287E 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 62 48 43.64 101 0 0.00 FOSL2 2355 genome.wustl.edu 37 2 28616645 28616645 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 28616645 28616645 C G SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known missense c.58 p.P20A 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 19 4 17.39 25 0 0.00 FOSL2 2355 genome.wustl.edu 37 2 28635065 28635065 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 28635065 28635065 C G SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known missense c.731 p.S244C 0.999 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 91 18 16.36 62 0 0.00 FOSL2 2355 genome.wustl.edu 37 2 28635081 28635081 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 28635081 28635081 C T SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known silent c.747 p.I249 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 91 21 18.75 57 0 0.00 FOXA2 3170 genome.wustl.edu 37 20 22562711 22562711 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 22562711 22562711 G A SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known missense c.1169 p.S390L 1.000 pfam_Forkhead_box_C pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 26 53 66.25 140 1 0.71 FOXA2 3170 genome.wustl.edu 37 20 22563211 22563211 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 22563211 22563211 G A SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known silent c.669 p.F223 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 97 12 11.01 74 0 0.00 FOXA2 3170 genome.wustl.edu 37 20 22563544 22563544 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 22563544 22563544 C G SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known missense c.336 p.L112F 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 5 5 50.00 11 0 0.00 FOXA3 3171 genome.wustl.edu 37 19 46375406 46375406 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 46375406 46375406 C G SNP FOXA3 ENST00000302177 human ensembl 70_37 +1 known missense c.143 p.S48C 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 63 13 17.11 75 0 0.00 FOXA3 3171 genome.wustl.edu 37 19 46375532 46375532 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 46375532 46375532 C T SNP FOXA3 ENST00000302177 human ensembl 70_37 +1 known missense c.269 p.S90F 0.716 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 32 10 23.81 68 0 0.00 FOXC1 2296 genome.wustl.edu 37 6 1611076 1611076 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 1611076 1611076 C G SNP FOXC1 ENST00000380874 human ensembl 70_37 +1 known silent c.396 p.L132 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 116 47 28.83 121 0 0.00 FOXC1 2296 genome.wustl.edu 37 6 1612199 1612199 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 1612199 1612199 G A SNP FOXC1 ENST00000380874 human ensembl 70_37 +1 known missense c.1519 p.V507M 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 47 31 39.24 76 0 0.00 FOXC2 2303 genome.wustl.edu 37 16 86602295 86602295 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 16 86602295 86602295 G A SNP FOXC2 ENST00000320354 human ensembl 70_37 +1 known missense c.1354 p.E452K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 29 19 39.58 46 0 0.00 FOXD2 2306 genome.wustl.edu 37 1 47904257 47904257 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 47904257 47904257 G C SNP FOXD2 ENST00000334793 human ensembl 70_37 +1 known missense c.450 p.L150F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 120 47 28.14 126 1 0.79 FOXD2 2306 genome.wustl.edu 37 1 47904449 47904449 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 47904449 47904449 C T SNP FOXD2 ENST00000334793 human ensembl 70_37 +1 known silent c.642 p.G214 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 36 5 12.20 28 0 0.00 FOXD3 27022 genome.wustl.edu 37 1 63789491 63789491 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 63789491 63789491 G C SNP FOXD3 ENST00000371116 human ensembl 70_37 +1 known missense c.762 p.Q254H 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 30 11 26.83 37 0 0.00 FOXD4 2298 genome.wustl.edu 37 9 117186 117186 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 117186 117186 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.934 p.R312C 0.028 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 52 20 27.78 72 0 0.00 FOXD4 2298 genome.wustl.edu 37 9 117854 117854 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 117854 117854 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.266 p.P89L 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 41 26 38.81 101 0 0.00 FOXD4 2298 genome.wustl.edu 37 9 117888 117888 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 117888 117888 C T SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.232 p.D78N 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 63 26 28.89 114 0 0.00 FOXD4 2298 genome.wustl.edu 37 9 117889 117889 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 117889 117889 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known silent c.231 p.S77 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 50 26 34.21 124 0 0.00 FOXD4L1 200350 genome.wustl.edu 37 2 114257595 114257595 + Silent SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 114257595 114257595 C G SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.762 p.P254 0.866 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 66 24 26.67 19 0 0.00 FOXD4L1 200350 genome.wustl.edu 37 2 114257610 114257610 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 114257610 114257610 C T SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.777 p.Y259 0.923 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 60 24 28.57 16 0 0.00 FOXD4L1 200350 genome.wustl.edu 37 2 114257652 114257652 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114257652 114257652 G A SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.819 p.S273 0.028 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 147 73 33.18 136 0 0.00 FOXD4L5 653427 genome.wustl.edu 37 9 70176944 70176944 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 70176944 70176944 C T SNP FOXD4L5 ENST00000377420 human ensembl 70_37 -1 known missense c.1040 p.R347Q 0.009 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 23 3 11.54 30 0 0.00 FOXE1 2304 genome.wustl.edu 37 9 100616545 100616545 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 100616545 100616545 G C SNP FOXE1 ENST00000375123 human ensembl 70_37 +1 known missense c.349 p.E117Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 50 11 18.03 76 0 0.00 FOXF1 2294 genome.wustl.edu 37 16 86546673 86546673 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 86546673 86546673 C G SNP FOXF1 ENST00000262426 human ensembl 70_37 +1 known missense c.1122 p.I374M 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 47 25 34.72 95 0 0.00 FOXG1 2290 genome.wustl.edu 37 14 29236510 29236510 + Missense_Mutation SNP G G C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 14 29236510 29236510 G C SNP FOXG1 ENST00000313071 human ensembl 70_37 +1 known missense c.25 p.E9Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 60 26 30.23 37 0 0.00 FOXG1 2290 genome.wustl.edu 37 14 29237007 29237007 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 29237007 29237007 G A SNP FOXG1 ENST00000313071 human ensembl 70_37 +1 known silent c.522 p.K174 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 16 4 20.00 23 0 0.00 FOXH1 8928 genome.wustl.edu 37 8 145700624 145700624 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 145700624 145700624 G A SNP FOXH1 ENST00000377317 human ensembl 70_37 -1 known silent c.195 p.A65 0.562 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC ENSG00000160973 77 15 16.30 91 0 0.00 FOXI1 2299 genome.wustl.edu 37 5 169533237 169533237 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 169533237 169533237 G A SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known silent c.276 p.Q92 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 19 11 36.67 50 0 0.00 FOXI1 2299 genome.wustl.edu 37 5 169533237 169533237 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 169533237 169533237 G A SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known silent c.276 p.Q92 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 47 35 42.68 56 0 0.00 FOXI1 2299 genome.wustl.edu 37 5 169533307 169533307 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 169533307 169533307 G T SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known nonsense c.346 p.E116* 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 82 19 18.81 108 0 0.00 FOXI3 344167 genome.wustl.edu 37 2 88747930 88747930 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 88747930 88747930 G C SNP FOXI3 ENST00000398142 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FOXI3 HGNC ENSG00000214336 51 34 40.00 56 0 0.00 FOXI3 344167 genome.wustl.edu 37 2 88748104 88748104 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 88748104 88748104 C G SNP FOXI3 ENST00000398142 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors FOXI3 HGNC ENSG00000214336 52 42 44.68 100 0 0.00 FOXJ1 2302 genome.wustl.edu 37 17 74133686 74133686 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74133686 74133686 G A SNP FOXJ1 ENST00000322957 human ensembl 70_37 -1 known silent c.1014 p.P338 0.015 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 21 13 38.24 32 0 0.00 FOXJ2 55810 genome.wustl.edu 37 12 8192501 8192501 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 8192501 8192501 G A SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.73 p.E25K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 40 14 25.93 59 0 0.00 FOXJ2 55810 genome.wustl.edu 37 12 8192701 8192701 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 8192701 8192701 G T SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.273 p.E91D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 29 30 50.85 98 0 0.00 FOXJ2 55810 genome.wustl.edu 37 12 8195264 8195264 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 8195264 8195264 G A SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.344 p.R115Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 38 50 56.82 68 0 0.00 FOXK1 221937 genome.wustl.edu 37 7 4780530 4780530 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 4780530 4780530 G A SNP FOXK1 ENST00000328914 human ensembl 70_37 +1 known missense c.622 p.E208K 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 279 74 20.96 414 1 0.24 FOXK1 221937 genome.wustl.edu 37 7 4801904 4801904 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 4801904 4801904 G A SNP FOXK1 ENST00000328914 human ensembl 70_37 +1 known missense c.2011 p.E671K 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 34 20 37.04 58 0 0.00 FOXK2 3607 genome.wustl.edu 37 17 80543821 80543821 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 80543821 80543821 C T SNP FOXK2 ENST00000335255 human ensembl 70_37 +1 known missense c.1321 p.R441W 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 39 27 40.91 78 0 0.00 FOXK2 3607 genome.wustl.edu 37 17 80559592 80559592 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80559592 80559592 C G SNP FOXK2 ENST00000529652 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FOXK2 HGNC ENSG00000141568 7 5 41.67 11 0 0.00 FOXK2 3607 genome.wustl.edu 37 17 80559807 80559807 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80559807 80559807 C G SNP FOXK2 ENST00000529652 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors FOXK2 HGNC ENSG00000141568 31 18 36.73 35 0 0.00 FOXL1 2300 genome.wustl.edu 37 16 86612401 86612401 + Silent SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 16 86612401 86612401 G A SNP FOXL1 ENST00000320241 human ensembl 70_37 +1 known silent c.72 p.E24 0.753 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 18 27 60.00 34 0 0.00 FOXL2 668 genome.wustl.edu 37 3 138665213 138665213 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138665213 138665213 C T SNP FOXL2 ENST00000330315 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 138 49 26.20 80 0 0.00 FOXM1 2305 genome.wustl.edu 37 12 2968012 2968012 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 2968012 2968012 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known nonsense c.2198 p.S733* 0.007 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 25 13 34.21 22 0 0.00 FOXM1 2305 genome.wustl.edu 37 12 2968332 2968332 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 2968332 2968332 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known silent c.1878 p.L626 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 31 25 44.64 68 0 0.00 FOXM1 2305 genome.wustl.edu 37 12 2983505 2983505 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 2983505 2983505 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known missense c.140 p.S47C 0.980 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 39 9 18.75 66 0 0.00 FOXN1 8456 genome.wustl.edu 37 17 26851603 26851603 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 26851603 26851603 G T SNP FOXN1 ENST00000226247 human ensembl 70_37 +1 known missense c.206 p.R69L 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 27 3 10.00 42 0 0.00 FOXN3 1112 genome.wustl.edu 37 14 89647088 89647088 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 89647088 89647088 G A SNP FOXN3 ENST00000261302 human ensembl 70_37 -1 known missense c.874 p.R292W 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 47 33 41.25 24 0 0.00 FOXN4 121643 genome.wustl.edu 37 12 109728038 109728038 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 109728038 109728038 G A SNP FOXN4 ENST00000299162 human ensembl 70_37 -1 known missense c.140 p.S47L 0.982 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 33 24 42.11 47 0 0.00 FOXO1 2308 genome.wustl.edu 37 13 41134033 41134033 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 41134033 41134033 G A SNP FOXO1 ENST00000379561 human ensembl 70_37 -1 known missense c.1595 p.S532F 0.496 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 18 19 51.35 35 0 0.00 FOXO4 4303 genome.wustl.edu 37 X 70316571 70316571 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70316571 70316571 G A SNP FOXO4 ENST00000374259 human ensembl 70_37 +1 known missense c.193 p.E65K 0.041 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 34 27 44.26 63 0 0.00 FOXO4 4303 genome.wustl.edu 37 X 70320631 70320631 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 70320631 70320631 G A SNP FOXO4 ENST00000374259 human ensembl 70_37 +1 known missense c.551 p.G184E 0.999 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 42 9 17.65 48 0 0.00 FOXO4 4303 genome.wustl.edu 37 X 70321381 70321381 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 70321381 70321381 T C SNP FOXO4 ENST00000374259 human ensembl 70_37 +1 known missense c.1301 p.I434T 0.258 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 98 15 13.27 84 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71015120 71015120 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 71015120 71015120 C T SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known missense c.1810 p.E604K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 53 13 19.40 53 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71021296 71021296 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 71021296 71021296 G T SNP FOXP1 ENST00000327590 human ensembl 70_37 -1 known missense c.1688 p.A563D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 39 5 11.36 61 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71037200 71037200 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 71037200 71037200 G A SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known missense c.1091 p.A364V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 20 28 58.33 92 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71090577 71090577 + Silent SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 71090577 71090577 T A SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known silent c.771 p.T257 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 95 15 13.64 88 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71179726 71179726 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 71179726 71179726 C T SNP FOXP1 ENST00000491238 human ensembl 70_37 -1 putative missense c.109 p.E37K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 38 16 29.63 80 0 0.00 FOXP1 27086 genome.wustl.edu 37 3 71355068 71355068 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 71355068 71355068 G A SNP FOXP1 ENST00000470112 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FOXP1 HGNC ENSG00000114861 10 30 75.00 32 0 0.00 FOXP2 93986 genome.wustl.edu 37 7 114302201 114302201 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 114302201 114302201 G A SNP FOXP2 ENST00000408937 human ensembl 70_37 +1 known missense c.1804 p.E602K 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 75 31 29.25 67 0 0.00 FOXP2 93986 genome.wustl.edu 37 7 114329979 114329979 + Nonstop_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 114329979 114329979 T A SNP FOXP2 ENST00000408937 human ensembl 70_37 +1 known nonstop c.2221 p.*741R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 33 4 10.81 33 0 0.00 FOXP3 50943 genome.wustl.edu 37 X 49113249 49113249 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 49113249 49113249 G A SNP FOXP3 ENST00000376207 human ensembl 70_37 -1 known silent c.606 p.P202 0.367 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 36 9 20.00 66 0 0.00 FOXP4 116113 genome.wustl.edu 37 6 41555242 41555242 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 41555242 41555242 G C SNP FOXP4 ENST00000307972 human ensembl 70_37 +1 known silent c.864 p.R288 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 17 4 19.05 51 0 0.00 FOXP4 116113 genome.wustl.edu 37 6 41562607 41562607 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 41562607 41562607 G A SNP FOXP4 ENST00000307972 human ensembl 70_37 +1 known splice_site c.1537-1 e13-1 1.000 - - - no_errors FOXP4 HGNC ENSG00000137166 21 16 43.24 41 0 0.00 FOXQ1 94234 genome.wustl.edu 37 6 1313312 1313312 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 1313312 1313312 A C SNP FOXQ1 ENST00000296839 human ensembl 70_37 +1 known missense c.373 p.I125L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC ENSG00000164379 43 5 10.42 56 0 0.00 FOXR2 139628 genome.wustl.edu 37 X 55650327 55650327 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b X 55650327 55650327 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known silent c.183 p.Q61 0.015 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 42 23 35.38 59 0 0.00 FOXR2 139628 genome.wustl.edu 37 X 55650352 55650352 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 55650352 55650352 G C SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.208 p.D70H 0.113 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 59 18 23.38 79 0 0.00 FOXR2 139628 genome.wustl.edu 37 X 55650925 55650925 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 55650925 55650925 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.781 p.D261N 0.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 14 7 33.33 33 0 0.00 FOXR2 139628 genome.wustl.edu 37 X 55651041 55651041 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 55651041 55651041 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.897 p.M299I 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 3 3 50.00 21 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36886250 36886250 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 36886250 36886250 C G SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known silent c.1860 p.L620 0.642 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 27 24 47.06 114 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36889694 36889694 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 36889694 36889694 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1781 p.R594Q 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 59 27 31.40 72 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36889851 36889851 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36889851 36889851 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known splice_site c.1625-1 e7-1 1.000 - - - no_errors FOXRED2 HGNC ENSG00000100350 45 21 31.82 65 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36892065 36892065 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 36892065 36892065 G T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1573 p.Q525K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 23 4 14.81 35 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36892146 36892146 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36892146 36892146 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1492 p.E498K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 43 12 21.82 27 0 0.00 FOXRED2 80020 genome.wustl.edu 37 22 36900295 36900295 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 36900295 36900295 G A SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.899 p.P300L 0.805 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 78 41 34.17 132 0 0.00 FPGS 2356 genome.wustl.edu 37 9 130575577 130575577 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130575577 130575577 C G SNP FPGS ENST00000373247 human ensembl 70_37 +1 known silent c.1458 p.L486 0.755 tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 22 17 43.59 31 0 0.00 FPGT 8790 genome.wustl.edu 37 1 74670707 74670707 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 74670707 74670707 G C SNP FPGT ENST00000370898 human ensembl 70_37 +1 known missense c.976 p.E326Q 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 5 4 44.44 15 0 0.00 FPGT 8790 genome.wustl.edu 37 1 74671227 74671227 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 74671227 74671227 C T SNP FPGT ENST00000370898 human ensembl 70_37 +1 known missense c.1496 p.S499L 0.952 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 81 26 24.30 130 0 0.00 FPR1 2357 genome.wustl.edu 37 19 52249272 52249272 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 52249272 52249272 C T SNP FPR1 ENST00000304748 human ensembl 70_37 -1 known missense c.976 p.E326K 0.996 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 56 10 15.15 39 0 0.00 FPR2 2358 genome.wustl.edu 37 19 52272399 52272399 + Missense_Mutation SNP T T G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 52272399 52272399 T G SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known missense c.488 p.F163C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 94 14 12.96 94 0 0.00 FPR2 2358 genome.wustl.edu 37 19 52272492 52272492 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52272492 52272492 C T SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known missense c.581 p.A194V 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 98 28 22.22 122 0 0.00 FPR2 2358 genome.wustl.edu 37 19 52272802 52272802 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 52272802 52272802 C T SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known silent c.891 p.L297 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 43 19 30.65 34 0 0.00 FPR3 2359 genome.wustl.edu 37 19 52328001 52328001 + Missense_Mutation SNP A A G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 52328001 52328001 A G SNP FPR3 ENST00000339223 human ensembl 70_37 +1 known missense c.1000 p.T334A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 16 20 55.56 18 0 0.00 FRA10AC1 118924 genome.wustl.edu 37 10 95431876 95431876 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 95431876 95431876 G A SNP FRA10AC1 ENST00000460752 human ensembl 70_37 -1 known rna NULL NULL 0.979 - - - no_errors FRA10AC1 HGNC ENSG00000148690 30 4 11.76 35 0 0.00 FRA10AC1 118924 genome.wustl.edu 37 10 95451844 95451844 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 95451844 95451844 C A SNP FRA10AC1 ENST00000359204 human ensembl 70_37 -1 known missense c.387 p.K129N 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 25 18 41.86 49 0 0.00 FRA10AC1 118924 genome.wustl.edu 37 10 95458071 95458071 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 95458071 95458071 C G SNP FRA10AC1 ENST00000359204 human ensembl 70_37 -1 known missense c.160 p.E54Q 1.000 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 18 7 28.00 41 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79188084 79188084 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 79188084 79188084 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.784 p.G262R 0.147 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 20 33 62.26 96 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79308769 79308769 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 79308769 79308769 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.3889 p.D1297H 0.149 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 13 7 35.00 10 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79343130 79343130 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 79343130 79343130 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.4654 p.E1552K 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 13 5 27.78 28 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79353577 79353577 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 79353577 79353577 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.5036 p.T1679I 0.061 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 44 5 10.20 74 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79368028 79368028 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 79368028 79368028 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.6004 p.D2002N 0.971 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 7 4 36.36 16 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79373445 79373445 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 4 79373445 79373445 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.6700 p.E2234K 0.115 superfamily_Cadherin-like pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 3 39 90.70 39 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79385678 79385678 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79385678 79385678 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.6970 p.E2324Q 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 36 43 54.43 42 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79396683 79396683 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 79396683 79396683 G T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.7774 p.E2592* 0.744 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 29 4 12.12 39 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79420968 79420968 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 79420968 79420968 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.9209 p.R3070T 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 81 23 22.12 108 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79420976 79420976 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 79420976 79420976 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.9217 p.Q3073* 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 57 13 18.57 38 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79440596 79440596 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 79440596 79440596 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.10501 p.E3501Q 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 197 42 17.50 310 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79461938 79461938 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79461938 79461938 C G SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.11699 p.S3900* 0.990 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 34 32 48.48 48 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79461991 79461991 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 79461991 79461991 C G SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.11752 p.L3918V 0.977 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 47 23 32.86 53 0 0.00 FRAS1 80144 genome.wustl.edu 37 4 79462120 79462120 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 79462120 79462120 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.11881 p.R3961W 0.986 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 19 8 29.63 41 0 0.00 FRAT1 10023 genome.wustl.edu 37 10 99080045 99080045 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 99080045 99080045 A C SNP FRAT1 ENST00000371021 human ensembl 70_37 +1 known missense c.835 p.S279R 0.999 NULL pfam_GSK3-bd - no_errors FRAT1 HGNC ENSG00000165879 21 11 33.33 21 0 0.00 FREM1 158326 genome.wustl.edu 37 9 14750127 14750127 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 14750127 14750127 C G SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.5558 p.G1853A 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 85 20 19.05 170 0 0.00 FREM1 158326 genome.wustl.edu 37 9 14784445 14784445 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 14784445 14784445 G A SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known silent c.4368 p.F1456 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 21 6 22.22 43 0 0.00 FREM1 158326 genome.wustl.edu 37 9 14801858 14801858 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 9 14801858 14801858 C G SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.3489 p.Q1163H 0.944 superfamily_Cadherin-like pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 122 47 27.49 111 0 0.00 FREM1 158326 genome.wustl.edu 37 9 14805125 14805125 + Missense_Mutation SNP G G T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 9 14805125 14805125 G T SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.3303 p.N1101K 0.976 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 31 4 11.43 57 0 0.00 FREM1 158326 genome.wustl.edu 37 9 14859349 14859349 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 14859349 14859349 C T SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.463 p.D155N 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 28 23 45.10 53 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39262212 39262212 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 39262212 39262212 G A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.731 p.R244K 0.001 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 29 21 42.00 37 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39262583 39262583 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 39262583 39262583 G T SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.1102 p.G368C 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 44 16 26.67 72 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39263748 39263748 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 39263748 39263748 C A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2267 p.A756D 0.322 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 16 16 50.00 41 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39263924 39263924 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 39263924 39263924 C T SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2443 p.P815S 0.965 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 99 15 13.16 78 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39264032 39264032 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 39264032 39264032 G C SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2551 p.E851Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 61 7 10.29 60 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39264464 39264464 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 39264464 39264464 T G SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2983 p.L995V 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 10 17 62.96 46 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39264593 39264593 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 39264593 39264593 G A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.3112 p.D1038N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 13 16 55.17 67 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39265951 39265951 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 39265951 39265951 C A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.4470 p.N1490K 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 11 4 26.67 15 0 0.00 FREM2 341640 genome.wustl.edu 37 13 39357288 39357288 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 39357288 39357288 G C SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.5723 p.G1908A 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 33 13 28.26 47 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144498997 144498997 + Missense_Mutation SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 144498997 144498997 C A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.6187 p.D2063Y 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 17 12 41.38 26 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144616998 144616998 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 144616998 144616998 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4831 p.D1611N 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 31 35 53.03 67 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144617229 144617229 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 144617229 144617229 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4600 p.D1534N 0.896 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 23 8 25.81 44 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144617512 144617512 + Silent SNP A A T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 144617512 144617512 A T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.4317 p.G1439 0.023 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 72 10 12.20 52 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144617829 144617829 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 144617829 144617829 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4000 p.D1334N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 52 23 30.67 70 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144618077 144618077 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 144618077 144618077 G T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.3752 p.P1251H 0.984 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 20 13 39.39 46 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144618142 144618142 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 4 144618142 144618142 G A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.3687 p.H1229 0.768 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 19 9 32.14 45 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144619231 144619231 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 144619231 144619231 G A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.2598 p.F866 0.998 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 49 17 25.76 67 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144619550 144619550 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 144619550 144619550 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.2279 p.G760E 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 68 34 33.33 90 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144619788 144619788 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 144619788 144619788 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.2041 p.D681N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 82 20 19.61 88 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144619899 144619899 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 144619899 144619899 C G SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.1930 p.E644Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 37 20 35.09 54 0 0.00 FREM3 166752 genome.wustl.edu 37 4 144621367 144621367 + Silent SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 144621367 144621367 C A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.462 p.L154 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 49 12 19.67 68 0 0.00 FRG1 2483 genome.wustl.edu 37 4 190882046 190882046 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 190882046 190882046 C T SNP FRG1 ENST00000514482 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors FRG1 HGNC ENSG00000109536 13 16 55.17 48 0 0.00 FRG1 2483 genome.wustl.edu 37 4 190882978 190882980 + In_Frame_Del DEL AAG AAG - TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 190882978 190882980 AAG - DEL FRG1 ENST00000226798 human ensembl 70_37 +1 known in_frame_del c.631_633 p.K212in_frame_del 1.000:1.000:1.000 pfam_FRG1 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 6 3 33.33 15 0 0.00 FRG1B 284802 genome.wustl.edu 37 20 29612387 29612387 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 29612387 29612387 G A SNP FRG1B ENST00000482423 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FRG1B HGNC ENSG00000149531 82 11 11.70 78 0 0.00 FRG1B 284802 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 70_37 +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 34 5 12.82 37 0 0.00 FRG1B 284802 genome.wustl.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 29625941 29625941 A T SNP FRG1B ENST00000278882 human ensembl 70_37 +1 known missense c.185 p.D62V 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 33 4 10.81 106 1 0.93 FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 20 4 16.67 26 0 0.00 FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 8 3 27.27 17 0 0.00 FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 18 7 26.92 15 0 0.00 FRG2B 441581 genome.wustl.edu 37 10 135439803 135439803 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 135439803 135439803 C T SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.186 p.S62 0.213 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 5 4 44.44 8 0 0.00 FRK 2444 genome.wustl.edu 37 6 116263652 116263652 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116263652 116263652 C A SNP FRK ENST00000368626 human ensembl 70_37 -1 known missense c.1443 p.E481D 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 28 20 41.67 81 0 0.00 FRK 2444 genome.wustl.edu 37 6 116325055 116325055 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116325055 116325055 C A SNP FRK ENST00000368626 human ensembl 70_37 -1 known nonsense c.451 p.E151* 0.976 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 22 10 31.25 44 0 0.00 FRMD3 257019 genome.wustl.edu 37 9 85862838 85862838 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 85862838 85862838 A G SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1789 p.S597P 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 30 26 45.61 41 0 0.00 FRMD3 257019 genome.wustl.edu 37 9 85863159 85863159 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 85863159 85863159 C T SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1468 p.E490K 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 40 9 18.37 85 0 0.00 FRMD3 257019 genome.wustl.edu 37 9 85863188 85863188 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 85863188 85863188 G T SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1439 p.T480K 0.998 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 35 4 10.26 69 0 0.00 FRMD3 257019 genome.wustl.edu 37 9 85881961 85881961 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 85881961 85881961 C T SNP FRMD3 ENST00000328788 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL NULL - no_errors FRMD3 HGNC ENSG00000172159 38 9 19.15 71 0 0.00 FRMD4A 55691 genome.wustl.edu 37 10 13687647 13687647 + RNA SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 13687647 13687647 T C SNP FRMD4A ENST00000460348 human ensembl 70_37 -1 known rna NULL NULL 0.285 - - - no_errors FRMD4A HGNC ENSG00000151474 14 13 46.43 32 0 0.00 FRMD4A 55691 genome.wustl.edu 37 10 13743412 13743412 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 13743412 13743412 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known silent c.903 p.P301 0.468 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 39 18 31.58 48 0 0.00 FRMD4A 55691 genome.wustl.edu 37 10 13782229 13782229 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 13782229 13782229 G C SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known missense c.637 p.L213V 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 14 5 25.00 31 0 0.00 FRMD4A 55691 genome.wustl.edu 37 10 13852835 13852835 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 13852835 13852835 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known missense c.185 p.G62E 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 22 12 35.29 44 0 0.00 FRMD4A 55691 genome.wustl.edu 37 10 13852888 13852888 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 13852888 13852888 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known silent c.132 p.E44 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 9 12 57.14 29 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69230376 69230376 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69230376 69230376 G A SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.2525 p.S842L 0.074 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 39 31 44.29 46 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69230520 69230520 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69230520 69230520 G C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known nonsense c.2381 p.S794* 0.009 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 47 32 40.51 54 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69265484 69265484 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 69265484 69265484 G C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.806 p.P269R 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 26 7 21.21 37 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69277540 69277540 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 69277540 69277540 G A SNP FRMD4B ENST00000542259 human ensembl 70_37 -1 known missense c.410 p.S137L 0.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD4B HGNC ENSG00000114541 7 9 56.25 25 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69336920 69336920 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 69336920 69336920 T C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.484 p.K162E 0.992 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 1 9 90.00 23 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69336920 69336920 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 69336920 69336920 T C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.484 p.K162E 0.992 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 4 32 88.89 47 0 0.00 FRMD4B 23150 genome.wustl.edu 37 3 69360490 69360490 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 69360490 69360490 C G SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.247 p.E83Q 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 45 22 32.84 36 0 0.00 FRMD5 84978 genome.wustl.edu 37 15 44166325 44166325 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 44166325 44166325 C T SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known missense c.1471 p.E491K 1.000 NULL pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC ENSG00000171877 120 41 25.47 164 0 0.00 FRMD5 84978 genome.wustl.edu 37 15 44202144 44202144 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 44202144 44202144 G C SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known silent c.363 p.L121 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC ENSG00000171877 25 11 30.56 26 0 0.00 FRMD5 84978 genome.wustl.edu 37 15 44202144 44202144 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 44202144 44202144 G C SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known silent c.363 p.L121 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC ENSG00000171877 30 4 11.76 39 0 0.00 FRMD6 122786 genome.wustl.edu 37 14 52171610 52171610 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 52171610 52171610 A G SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known missense c.515 p.H172R 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 36 18 33.33 34 0 0.00 FRMD6 122786 genome.wustl.edu 37 14 52174875 52174875 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 52174875 52174875 C G SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known missense c.638 p.S213C 0.999 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 34 11 24.44 56 0 0.00 FRMD6 122786 genome.wustl.edu 37 14 52194513 52194513 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 52194513 52194513 C T SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known silent c.1635 p.L545 0.756 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 21 18 46.15 54 0 0.00 FRMD6 122786 genome.wustl.edu 37 14 52194648 52194648 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 52194648 52194648 G A SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known silent c.1770 p.Q590 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 34 29 46.03 55 0 0.00 FRMPD1 22844 genome.wustl.edu 37 9 37745883 37745883 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 37745883 37745883 C T SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.3854 p.S1285F 0.581 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 41 11 21.15 32 0 0.00 FRMPD1 22844 genome.wustl.edu 37 9 37746008 37746008 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 37746008 37746008 C G SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.3979 p.P1327A 0.045 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 45 19 29.69 34 0 0.00 FRMPD1 22844 genome.wustl.edu 37 9 37746462 37746462 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 37746462 37746462 G A SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.4433 p.R1478K 0.998 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 68 9 11.69 53 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49383976 49383976 + Missense_Mutation SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 49383976 49383976 T C SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2902 p.I968V 0.060 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 28 5 15.15 25 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49388901 49388901 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 49388901 49388901 C T SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2735 p.G912E 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 39 10 20.41 57 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49392824 49392824 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 49392824 49392824 G C SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2460 p.I820M 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 21 5 19.23 29 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49392882 49392882 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 49392882 49392882 G A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2402 p.P801L 0.993 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 27 4 12.90 34 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49400875 49400875 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 49400875 49400875 G A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2017 p.L673F 0.004 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 25 11 30.56 40 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49414917 49414917 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 49414917 49414917 C G SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.1671 p.R557S 0.000 pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 49 31 38.75 90 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49459636 49459636 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 49459636 49459636 C G SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.124 p.E42Q 0.454 smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 20 11 35.48 37 0 0.00 FRMPD2 143162 genome.wustl.edu 37 10 49459669 49459669 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 49459669 49459669 C A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known nonsense c.91 p.E31* 0.997 smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 42 26 37.68 89 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106788902 106788902 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 106788902 106788902 G A SNP FRMPD3 ENST00000477796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FRMPD3 HGNC ENSG00000147234 75 21 21.88 113 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106840934 106840934 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106840934 106840934 A C SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.1924 p.N642H 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 16 16 50.00 39 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106844623 106844623 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 106844623 106844623 C T SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known silent c.3453 p.L1151 0.686 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 73 19 20.65 78 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106844953 106844953 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 106844953 106844953 G C SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.3783 p.Q1261H 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 115 20 14.81 153 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106845065 106845065 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 106845065 106845065 G A SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.3895 p.E1299K 0.998 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 25 3 10.71 37 0 0.00 FRMPD3 84443 genome.wustl.edu 37 X 106845537 106845537 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 106845537 106845537 G A SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.4367 p.R1456K 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 62 8 11.43 77 0 0.00 FRMPD4 9758 genome.wustl.edu 37 X 12734605 12734605 + Missense_Mutation SNP A A T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 12734605 12734605 A T SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.2027 p.D676V 0.995 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 29 20 40.82 30 0 0.00 FRMPD4 9758 genome.wustl.edu 37 X 12734823 12734823 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 12734823 12734823 G C SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.2245 p.E749Q 0.999 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 24 10 29.41 22 0 0.00 FRMPD4 9758 genome.wustl.edu 37 X 12736237 12736237 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 12736237 12736237 G A SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.3292 p.E1098K 0.980 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 25 9 25.71 35 0 0.00 FRRS1 391059 genome.wustl.edu 37 1 100181193 100181193 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 100181193 100181193 G A SNP FRRS1 ENST00000287474 human ensembl 70_37 -1 known silent c.1272 p.L424 1.000 smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 24 14 36.84 59 0 0.00 FRRS1 391059 genome.wustl.edu 37 1 100185200 100185200 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 100185200 100185200 C T SNP FRRS1 ENST00000287474 human ensembl 70_37 -1 known missense c.1010 p.R337Q 0.651 smart_DOMON_domain,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 21 6 22.22 29 0 0.00 FRRS1L 23732 genome.wustl.edu 37 9 111903843 111903843 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 111903843 111903843 G A SNP FRRS1L ENST00000374581 human ensembl 70_37 -1 known silent c.642 p.V214 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC ENSG00000136805 29 18 38.30 49 0 0.00 FRS2 10818 genome.wustl.edu 37 12 69968293 69968293 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 69968293 69968293 G A SNP FRS2 ENST00000299293 human ensembl 70_37 +1 known missense c.1085 p.R362H 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 17 9 34.62 33 0 0.00 FRS2 10818 genome.wustl.edu 37 12 69968496 69968496 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 69968496 69968496 G A SNP FRS2 ENST00000299293 human ensembl 70_37 +1 known missense c.1288 p.E430K 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 31 10 24.39 28 0 0.00 FRS3 10817 genome.wustl.edu 37 6 41738419 41738419 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41738419 41738419 G A SNP FRS3 ENST00000259748 human ensembl 70_37 -1 known silent c.1417 p.L473 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 18 6 25.00 18 0 0.00 FRY 10129 genome.wustl.edu 37 13 32691498 32691498 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 13 32691498 32691498 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.352 p.E118K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 33 17 34.00 71 0 0.00 FRY 10129 genome.wustl.edu 37 13 32729667 32729667 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32729667 32729667 G C SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.1519 p.D507H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 23 17 42.50 30 0 0.00 FRY 10129 genome.wustl.edu 37 13 32749764 32749764 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 32749764 32749764 G C SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.2416 p.D806H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 43 28 38.89 64 0 0.00 FRY 10129 genome.wustl.edu 37 13 32776588 32776588 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32776588 32776588 C G SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.3942 p.L1314 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 17 4 19.05 26 0 0.00 FRY 10129 genome.wustl.edu 37 13 32776660 32776660 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 13 32776660 32776660 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.4014 p.F1338 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 65 23 26.14 103 0 0.00 FRY 10129 genome.wustl.edu 37 13 32785125 32785125 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32785125 32785125 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.4545 p.P1515 0.942 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 15 13 46.43 23 0 0.00 FRY 10129 genome.wustl.edu 37 13 32785169 32785169 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 32785169 32785169 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.4589 p.S1530L 0.993 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 57 10 14.93 64 0 0.00 FRY 10129 genome.wustl.edu 37 13 32805362 32805362 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 32805362 32805362 C G SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.5452 p.Q1818E 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 66 9 12.00 57 0 0.00 FRY 10129 genome.wustl.edu 37 13 32835906 32835906 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32835906 32835906 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.7570 p.E2524K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 16 15 48.39 43 0 0.00 FRY 10129 genome.wustl.edu 37 13 32836601 32836601 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 13 32836601 32836601 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.7768 p.E2590K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 139 33 19.08 158 0 0.00 FRY 10129 genome.wustl.edu 37 13 32863860 32863860 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 32863860 32863860 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.8560 p.E2854K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 11 8 38.10 39 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48537794 48537794 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 48537794 48537794 C T SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.6444 p.M2148I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 15 10 40.00 76 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48542058 48542058 + Missense_Mutation SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 48542058 48542058 A G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.6323 p.L2108S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 19 3 13.64 22 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48552714 48552714 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 48552714 48552714 G T SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.4528 p.H1510N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 25 3 10.71 52 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48555334 48555334 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 48555334 48555334 C T SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.4333 p.E1445K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 52 19 26.76 45 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48588685 48588685 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48588685 48588685 C G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.1701 p.L567F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 28 17 37.78 28 0 0.00 FRYL 285527 genome.wustl.edu 37 4 48592790 48592790 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 48592790 48592790 C G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.1393 p.D465H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 11 16 59.26 46 0 0.00 FRZB 2487 genome.wustl.edu 37 2 183699692 183699692 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 183699692 183699692 G A SNP FRZB ENST00000295113 human ensembl 70_37 -1 known missense c.862 p.R288C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 12 9 42.86 38 0 0.00 FRZB 2487 genome.wustl.edu 37 2 183702723 183702723 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 183702723 183702723 C A SNP FRZB ENST00000295113 human ensembl 70_37 -1 known missense c.814 p.G272C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 40 5 11.11 36 0 0.00 FRZB 2487 genome.wustl.edu 37 2 183731215 183731215 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 183731215 183731215 G C SNP FRZB ENST00000295113 human ensembl 70_37 -1 known silent c.66 p.L22 0.978 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 15 13 46.43 44 0 0.00 FSBP 100861412 genome.wustl.edu 37 8 95448953 95448953 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 95448953 95448953 G A SNP FSBP ENST00000481490 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 NULL NULL - no_errors FSBP HGNC ENSG00000265817 84 13 13.27 70 0 0.00 FSCB 84075 genome.wustl.edu 37 14 44974138 44974138 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 44974138 44974138 G A SNP FSCB ENST00000340446 human ensembl 70_37 -1 known silent c.2053 p.L685 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 63 53 45.69 80 0 0.00 FSCB 84075 genome.wustl.edu 37 14 44975541 44975541 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 44975541 44975541 G A SNP FSCB ENST00000340446 human ensembl 70_37 -1 known missense c.650 p.S217L 0.001 NULL NULL - no_errors FSCB HGNC ENSG00000189139 65 17 20.48 59 0 0.00 FSCB 84075 genome.wustl.edu 37 14 44975706 44975706 + Nonsense_Mutation SNP G G C TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 14 44975706 44975706 G C SNP FSCB ENST00000340446 human ensembl 70_37 -1 known nonsense c.485 p.S162* 0.043 NULL NULL - no_errors FSCB HGNC ENSG00000189139 54 29 34.94 91 0 0.00 FSCN1 6624 genome.wustl.edu 37 7 5632933 5632933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632933 5632933 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known missense c.366 p.F122L 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 12 5 29.41 13 0 0.00 FSCN1 6624 genome.wustl.edu 37 7 5632988 5632988 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632988 5632988 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known missense c.421 p.Q141E 1.000 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 13 6 31.58 15 0 0.00 FSCN1 6624 genome.wustl.edu 37 7 5632993 5632993 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5632993 5632993 C G SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.426 p.V142 0.997 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 9 9 50.00 15 0 0.00 FSCN1 6624 genome.wustl.edu 37 7 5642988 5642988 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 5642988 5642988 G A SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.933 p.T311 0.999 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 23 17 42.50 50 0 0.00 FSCN1 6624 genome.wustl.edu 37 7 5643567 5643567 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 5643567 5643567 C T SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.1185 p.I395 0.220 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 47 16 25.40 33 0 0.00 FSCN2 25794 genome.wustl.edu 37 17 79495605 79495605 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79495605 79495605 C T SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known silent c.48 p.L16 0.001 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC ENSG00000186765 76 17 18.28 57 0 0.00 FSCN2 25794 genome.wustl.edu 37 17 79495811 79495811 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 79495811 79495811 G A SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known missense c.254 p.G85D 0.507 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC ENSG00000186765 4 5 55.56 9 0 0.00 FSCN2 25794 genome.wustl.edu 37 17 79503718 79503718 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 79503718 79503718 C T SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known silent c.1248 p.F416 0.996 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC ENSG00000186765 9 5 35.71 25 0 0.00 FSCN3 29999 genome.wustl.edu 37 7 127231783 127231783 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 127231783 127231783 G A SNP FSCN3 ENST00000478328 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors FSCN3 HGNC ENSG00000106328 24 24 50.00 35 0 0.00 FSD1L 83856 genome.wustl.edu 37 9 108226568 108226568 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 108226568 108226568 C T SNP FSD1L ENST00000374716 human ensembl 70_37 +1 known nonsense c.67 p.Q23* 1.000 superfamily_FH2_actin-bd,smart_Bbox_C superfamily_FH2_actin-bd,smart_Bbox_C - no_errors FSD1L HGNC ENSG00000106701 40 60 60.00 51 0 0.00 FSD1L 83856 genome.wustl.edu 37 9 108270984 108270984 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 108270984 108270984 C G SNP FSD1L ENST00000539376 human ensembl 70_37 +1 known missense c.412 p.L138V 0.994 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC ENSG00000106701 19 12 38.71 25 0 0.00 FSD2 123722 genome.wustl.edu 37 15 83438506 83438506 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 83438506 83438506 C T SNP FSD2 ENST00000334574 human ensembl 70_37 -1 known missense c.1398 p.M466I 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 17 12 41.38 38 0 0.00 FSD2 123722 genome.wustl.edu 37 15 83455623 83455623 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 83455623 83455623 C T SNP FSD2 ENST00000334574 human ensembl 70_37 -1 known missense c.520 p.E174K 0.671 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 118 38 24.36 48 0 0.00 FSHR 2492 genome.wustl.edu 37 2 49190835 49190835 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 49190835 49190835 C T SNP FSHR ENST00000406846 human ensembl 70_37 -1 known silent c.1125 p.L375 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC ENSG00000170820 23 8 25.81 39 0 0.00 FSHR 2492 genome.wustl.edu 37 2 49195912 49195912 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 49195912 49195912 T G SNP FSHR ENST00000406846 human ensembl 70_37 -1 known missense c.779 p.K260T 0.395 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC ENSG00000170820 24 12 33.33 44 0 0.00 FSHR 2492 genome.wustl.edu 37 2 49210085 49210085 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 49210085 49210085 C A SNP FSHR ENST00000406846 human ensembl 70_37 -1 known missense c.634 p.D212Y 1.000 pfam_Leu-rich_rpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC ENSG00000170820 25 6 19.35 33 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186603605 186603606 + Frame_Shift_Ins INS - - G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 186603605 186603606 - G INS FSIP2 ENST00000343098 human ensembl 70_37 +1 known frame_shift_ins c.251_252 p.A86fs 0.000:0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 2 4 66.67 9 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186609076 186609076 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 186609076 186609076 A C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.682 p.K228Q 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 25 17 40.48 43 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186653530 186653530 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 186653530 186653530 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.1934 p.S645L 0.998 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 26 20 43.48 35 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186655010 186655010 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 186655010 186655010 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.3414 p.I1138 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 10 7 41.18 17 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186657507 186657507 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 186657507 186657507 G T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known nonsense c.5911 p.E1971* 0.003 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 35 14 28.57 57 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186661203 186661203 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 186661203 186661203 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.9607 p.E3203K 0.993 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 18 11 37.93 41 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186665466 186665466 + Silent SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 186665466 186665466 T C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.11700 p.C3900 0.046 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 24 10 29.41 41 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186667087 186667087 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 186667087 186667087 C G SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.13321 p.H4441D 0.002 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 26 7 21.21 35 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186667594 186667594 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 2 186667594 186667594 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.13828 p.E4610K 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 29 4 12.12 41 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186668590 186668592 + In_Frame_Del DEL AGT AGT - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 186668590 186668592 AGT - DEL FSIP2 ENST00000343098 human ensembl 70_37 +1 known in_frame_del c.14824_14826 p.S4942in_frame_del 0.319:0.208:0.098 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 7 2 22.22 38 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186669523 186669523 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 186669523 186669523 G T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known nonsense c.15757 p.E5253* 0.998 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 10 3 23.08 32 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186670251 186670251 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 186670251 186670251 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.16485 p.F5495 0.994 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 23 8 25.81 19 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186670333 186670333 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 186670333 186670333 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.16567 p.A5523T 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 32 4 11.11 49 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186670383 186670383 + Silent SNP T T C TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 186670383 186670383 T C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.16617 p.S5539 0.003 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 8 8 50.00 34 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186671174 186671174 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 186671174 186671174 T C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.17408 p.V5803A 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 17 15 46.88 37 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186672655 186672655 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 186672655 186672655 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.18889 p.D6297N 0.965 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 25 19 43.18 39 0 0.00 FSIP2 401024 genome.wustl.edu 37 2 186678497 186678497 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 2 186678497 186678497 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.20320 p.D6774N 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 44 7 13.73 46 0 0.00 FSTL1 11167 genome.wustl.edu 37 3 120122095 120122095 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 120122095 120122095 C G SNP FSTL1 ENST00000295633 human ensembl 70_37 -1 known missense c.688 p.E230Q 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2 - no_errors FSTL1 HGNC ENSG00000163430 75 14 15.73 94 0 0.00 FSTL1 11167 genome.wustl.edu 37 3 120128391 120128391 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 120128391 120128391 G T SNP FSTL1 ENST00000295633 human ensembl 70_37 -1 known missense c.450 p.D150E 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2 - no_errors FSTL1 HGNC ENSG00000163430 25 4 13.79 27 0 0.00 FSTL3 10272 genome.wustl.edu 37 19 681413 681413 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 681413 681413 C T SNP FSTL3 ENST00000166139 human ensembl 70_37 +1 known nonsense c.586 p.R196* 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FSTL3 HGNC ENSG00000070404 15 12 44.44 16 0 0.00 FSTL3 10272 genome.wustl.edu 37 19 681696 681696 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 681696 681696 G C SNP FSTL3 ENST00000166139 human ensembl 70_37 +1 known missense c.780 p.E260D 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FSTL3 HGNC ENSG00000070404 29 14 32.56 33 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162307436 162307436 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 162307436 162307436 G A SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known silent c.2007 p.S669 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 44 28 38.89 68 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162376269 162376269 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 162376269 162376269 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known silent c.1728 p.L576 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 29 29 50.00 114 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162380377 162380377 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 162380377 162380377 G A SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1703 p.S568L 0.857 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 45 8 15.09 64 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162431553 162431553 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 162431553 162431553 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1336 p.E446K 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 14 16 53.33 22 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162459336 162459336 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 162459336 162459336 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1294 p.D432N 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 31 11 26.19 54 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162508625 162508625 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 162508625 162508625 G C SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.997 p.H333D 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 35 53 60.23 56 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162680668 162680668 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 162680668 162680668 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.622 p.E208K 0.984 pfscan_EF_HAND_2 pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 116 19 14.07 123 0 0.00 FSTL5 56884 genome.wustl.edu 37 4 162841709 162841709 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 162841709 162841709 C G SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.256 p.E86Q 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 45 27 37.50 50 0 0.00 FTCD 10841 genome.wustl.edu 37 21 47558551 47558551 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 21 47558551 47558551 C T SNP FTCD ENST00000355384 human ensembl 70_37 -1 known missense c.1270 p.G424S 0.001 NULL pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 16 5 23.81 25 0 0.00 FTCD 10841 genome.wustl.edu 37 21 47565416 47565416 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 47565416 47565416 C T SNP FTCD ENST00000359679 human ensembl 70_37 -1 known missense c.1175 p.R392Q 1.000 pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 16 20 55.56 41 0 0.00 FTCD 10841 genome.wustl.edu 37 21 47570313 47570313 + Nonsense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 47570313 47570313 G A SNP FTCD ENST00000359679 human ensembl 70_37 -1 known nonsense c.763 p.R255* 0.999 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 53 32 37.65 23 0 0.00 FTCD 10841 genome.wustl.edu 37 21 47571901 47571901 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 47571901 47571901 G C SNP FTCD ENST00000498355 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors FTCD HGNC ENSG00000160282 8 7 46.67 15 0 0.00 FTH1P10 2502 genome.wustl.edu 37 5 17354209 17354209 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 17354209 17354209 T C SNP FTH1P10 ENST00000401830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 74 20 21.28 67 0 0.00 FTH1P10 2502 genome.wustl.edu 37 5 17354384 17354384 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 17354384 17354384 C G SNP FTH1P10 ENST00000401830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 88 15 14.56 70 0 0.00 FTHL17 53940 genome.wustl.edu 37 X 31089601 31089601 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 31089601 31089601 C T SNP FTHL17 ENST00000359202 human ensembl 70_37 -1 known missense c.470 p.R157H 0.001 pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC ENSG00000132446 36 6 14.29 64 0 0.00 FTHL17 53940 genome.wustl.edu 37 X 31089910 31089910 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 31089910 31089910 C T SNP FTHL17 ENST00000359202 human ensembl 70_37 -1 known missense c.161 p.R54H 0.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC ENSG00000132446 45 21 31.82 57 0 0.00 FTL 2512 genome.wustl.edu 37 19 49468795 49468795 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49468795 49468795 A G SNP FTL ENST00000331825 human ensembl 70_37 +1 known missense c.31 p.T11A 0.985 superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTL HGNC ENSG00000087086 41 24 36.92 94 0 0.00 FTL 2512 genome.wustl.edu 37 19 49469965 49469965 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49469965 49469965 C G SNP FTL ENST00000331825 human ensembl 70_37 +1 known missense c.501 p.F167L 0.657 superfamily_Ferritin/RNR-like pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTL HGNC ENSG00000087086 130 28 17.72 191 0 0.00 FTMT 94033 genome.wustl.edu 37 5 121187814 121187814 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 121187814 121187814 C T SNP FTMT ENST00000321339 human ensembl 70_37 +1 known silent c.156 p.A52 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 8 5 38.46 13 0 0.00 FTSJ2 29960 genome.wustl.edu 37 7 2279272 2279272 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 2279272 2279272 G A SNP FTSJ2 ENST00000242257 human ensembl 70_37 -1 known missense c.79 p.R27W 0.125 pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 16 4 20.00 36 0 0.00 FTSJ3 117246 genome.wustl.edu 37 17 61904804 61904804 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61904804 61904804 C T SNP FTSJ3 ENST00000580295 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTSJ3 HGNC ENSG00000108592 74 31 29.52 67 0 0.00 CMTR2 55783 genome.wustl.edu 37 16 71319737 71319737 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 71319737 71319737 G A SNP FTSJD1 ENST00000338099 human ensembl 70_37 -1 known silent c.87 p.L29 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 46 17 26.98 72 0 0.00 CMTR1 23070 genome.wustl.edu 37 6 37414095 37414095 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 37414095 37414095 G A SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.314 p.G105E 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 62 24 27.91 60 0 0.00 CMTR1 23070 genome.wustl.edu 37 6 37426574 37426574 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37426574 37426574 G A SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.964 p.E322K 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 26 15 36.59 57 0 0.00 CMTR1 23070 genome.wustl.edu 37 6 37443917 37443917 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37443917 37443917 G T SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.2052 p.E684D 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 31 10 24.39 57 0 0.00 FTX 100302692 genome.wustl.edu 37 X 73511847 73511847 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 73511847 73511847 C T SNP FTX ENST00000455395 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FTX HGNC ENSG00000230590 18 23 56.10 20 0 0.00 FUBP1 8880 genome.wustl.edu 37 1 78428511 78428511 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 78428511 78428511 G A SNP FUBP1 ENST00000436586 human ensembl 70_37 -1 known missense c.1351 p.R451C 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 27 8 22.86 38 0 0.00 FUBP1 8880 genome.wustl.edu 37 1 78444657 78444657 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 78444657 78444657 G A SNP FUBP1 ENST00000436586 human ensembl 70_37 -1 known missense c.32 p.S11F 0.117 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 137 33 19.41 93 0 0.00 FUBP3 8939 genome.wustl.edu 37 9 133470931 133470931 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 133470931 133470931 C T SNP FUBP3 ENST00000319725 human ensembl 70_37 +1 known missense c.146 p.S49L 0.983 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 18 10 35.71 19 0 0.00 FUBP3 8939 genome.wustl.edu 37 9 133472045 133472045 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 133472045 133472045 C T SNP FUBP3 ENST00000372376 human ensembl 70_37 +1 known missense c.7 p.P3S 0.003 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 25 5 16.67 21 0 0.00 FUCA2 2519 genome.wustl.edu 37 6 143816982 143816982 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 143816982 143816982 C T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known silent c.1266 p.V422 0.990 pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 6 4 40.00 31 0 0.00 FUCA2 2519 genome.wustl.edu 37 6 143825101 143825101 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 143825101 143825101 G T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.701 p.P234Q 0.997 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 33 5 13.16 67 0 0.00 FUCA2 2519 genome.wustl.edu 37 6 143825236 143825236 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 143825236 143825236 G T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.566 p.P189Q 0.999 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 27 4 12.90 59 0 0.00 FUCA2 2519 genome.wustl.edu 37 6 143825369 143825369 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 143825369 143825369 C G SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.433 p.E145Q 0.197 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 16 10 38.46 18 0 0.00 FUK 197258 genome.wustl.edu 37 16 70506932 70506932 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 70506932 70506932 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known missense c.1549 p.L517F 0.810 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 71 19 21.11 135 1 0.74 FUK 197258 genome.wustl.edu 37 16 70513169 70513169 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70513169 70513169 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known missense c.3034 p.R1012W 0.999 pfam_GHMP_kinase_C_dom pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 62 20 24.39 95 0 0.00 FUK 197258 genome.wustl.edu 37 16 70513187 70513187 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 70513187 70513187 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known silent c.3052 p.L1018 1.000 pfam_GHMP_kinase_C_dom,prints_Galkinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 50 34 40.48 60 0 0.00 FUNDC1 139341 genome.wustl.edu 37 X 44383368 44383368 + RNA SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 44383368 44383368 G C SNP FUNDC1 ENST00000483115 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FUNDC1 HGNC ENSG00000069509 28 4 12.50 33 0 0.00 FUNDC2 65991 genome.wustl.edu 37 X 154279971 154279971 + Missense_Mutation SNP A A C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 154279971 154279971 A C SNP FUNDC2 ENST00000369498 human ensembl 70_37 +1 known missense c.387 p.K129N 0.924 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 53 21 28.00 50 0 0.00 FUNDC2 65991 genome.wustl.edu 37 X 154282927 154282927 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 154282927 154282927 C T SNP FUNDC2 ENST00000369498 human ensembl 70_37 +1 known silent c.550 p.L184 1.000 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 108 29 21.17 86 0 0.00 FURIN 5045 genome.wustl.edu 37 15 91419569 91419569 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91419569 91419569 C T SNP FURIN ENST00000268171 human ensembl 70_37 +1 known nonsense c.262 p.Q88* 0.999 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 43 23 34.85 34 0 0.00 FUS 2521 genome.wustl.edu 37 16 31201644 31201644 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 31201644 31201644 G T SNP FUS ENST00000254108 human ensembl 70_37 +1 known missense c.1217 p.G406V 0.998 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 36 4 10.00 30 0 0.00 FUT1 2523 genome.wustl.edu 37 19 49254068 49254068 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 49254068 49254068 C G SNP FUT1 ENST00000310160 human ensembl 70_37 -1 known missense c.471 p.L157F 0.007 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 21 13 38.24 33 0 0.00 FUT1 2523 genome.wustl.edu 37 19 49254472 49254472 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49254472 49254472 A C SNP FUT1 ENST00000310160 human ensembl 70_37 -1 known missense c.67 p.F23V 0.006 NULL pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 13 13 50.00 28 0 0.00 FUT10 84750 genome.wustl.edu 37 8 33247035 33247035 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 33247035 33247035 C T SNP FUT10 ENST00000327671 human ensembl 70_37 -1 known missense c.658 p.D220N 0.992 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 121 19 13.57 140 0 0.00 FUT11 170384 genome.wustl.edu 37 10 75535250 75535250 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 75535250 75535250 C G SNP FUT11 ENST00000394790 human ensembl 70_37 +1 known missense c.1408 p.H470D 0.000 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 47 31 39.24 68 0 0.00 FUT2 2524 genome.wustl.edu 37 19 49206750 49206750 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49206750 49206750 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known missense c.537 p.Q179H 0.766 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 6 35 85.37 69 0 0.00 FUT2 2524 genome.wustl.edu 37 19 49206957 49206957 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49206957 49206957 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known missense c.744 p.W248C 1.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 11 33 75.00 36 0 0.00 FUT2 2524 genome.wustl.edu 37 19 49207015 49207015 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49207015 49207015 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known nonsense c.802 p.E268* 0.921 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 7 35 83.33 43 0 0.00 FUT3 2525 genome.wustl.edu 37 19 5844263 5844263 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 5844263 5844263 C T SNP FUT3 ENST00000303225 human ensembl 70_37 -1 known silent c.588 p.A196 0.910 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 55 8 12.70 45 0 0.00 FUT3 2525 genome.wustl.edu 37 19 5844386 5844386 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5844386 5844386 G A SNP FUT3 ENST00000303225 human ensembl 70_37 -1 known silent c.465 p.L155 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 52 15 22.39 49 0 0.00 FUT5 2527 genome.wustl.edu 37 19 5867194 5867194 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 5867194 5867194 G T SNP FUT5 ENST00000252675 human ensembl 70_37 -1 known silent c.543 p.P181 0.998 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 30 26 46.43 48 0 0.00 FUT5 2527 genome.wustl.edu 37 19 5867440 5867440 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 5867440 5867440 G A SNP FUT5 ENST00000252675 human ensembl 70_37 -1 known silent c.297 p.P99 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 100 31 23.66 90 0 0.00 FUT6 2528 genome.wustl.edu 37 19 5832556 5832556 + Missense_Mutation SNP T T A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 5832556 5832556 T A SNP FUT6 ENST00000592563 human ensembl 70_37 -1 known missense c.23 p.K8M 0.417 NULL pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 55 25 31.25 69 0 0.00 FUT8 2530 genome.wustl.edu 37 14 66096237 66096237 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 66096237 66096237 C G SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known silent c.510 p.L170 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 22 35 61.40 47 0 0.00 FUT8 2530 genome.wustl.edu 37 14 66188690 66188690 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 66188690 66188690 G C SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known missense c.1033 p.E345Q 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 52 18 25.35 54 0 0.00 FUT8 2530 genome.wustl.edu 37 14 66190982 66190983 + Frame_Shift_Ins INS - - A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 66190982 66190983 - A INS FUT8 ENST00000360689 human ensembl 70_37 +1 known frame_shift_ins c.1200_1201 p.R402fs 1.000:1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 16 12 42.86 45 0 0.00 FUT8 2530 genome.wustl.edu 37 14 66208817 66208817 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 66208817 66208817 C T SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known nonsense c.1417 p.R473* 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 7 5 41.67 15 0 0.00 FUT9 10690 genome.wustl.edu 37 6 96651276 96651276 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 96651276 96651276 G A SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.245 p.C82Y 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 34 14 29.17 41 0 0.00 FUT9 10690 genome.wustl.edu 37 6 96651604 96651604 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 96651604 96651604 G C SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.573 p.W191C 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 26 29 52.73 43 0 0.00 FUT9 10690 genome.wustl.edu 37 6 96651676 96651676 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 96651676 96651676 C G SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.645 p.I215M 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 6 9 60.00 18 0 0.00 FUZ 80199 genome.wustl.edu 37 19 50314640 50314640 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 50314640 50314640 G A SNP FUZ ENST00000313777 human ensembl 70_37 -1 known missense c.472 p.P158S 1.000 NULL NULL - no_errors FUZ HGNC ENSG00000010361 25 28 52.83 55 0 0.00 FUZ 80199 genome.wustl.edu 37 19 50314710 50314710 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 50314710 50314710 G A SNP FUZ ENST00000313777 human ensembl 70_37 -1 known silent c.402 p.L134 0.992 NULL NULL - no_errors FUZ HGNC ENSG00000010361 31 32 50.79 55 0 0.00 FXR1 8087 genome.wustl.edu 37 3 180666162 180666162 + Missense_Mutation SNP G G C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 180666162 180666162 G C SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known missense c.298 p.D100H 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 101 21 17.07 77 0 0.00 FXR1 8087 genome.wustl.edu 37 3 180666275 180666275 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 180666275 180666275 G C SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known missense c.411 p.L137F 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 30 4 11.76 14 0 0.00 FXR1 8087 genome.wustl.edu 37 3 180688094 180688094 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 180688094 180688094 G A SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known silent c.1551 p.L517 0.998 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 88 14 13.73 131 1 0.76 FXR2 9513 genome.wustl.edu 37 17 7495874 7495874 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 7495874 7495874 G A SNP FXR2 ENST00000250113 human ensembl 70_37 -1 known silent c.1773 p.R591 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 29 10 25.64 75 0 0.00 FXYD3 5349 genome.wustl.edu 37 19 35613710 35613710 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35613710 35613710 G T SNP FXYD3 ENST00000435734 human ensembl 70_37 +1 known missense c.310 p.V104F 0.001 pfam_Ion-transport_regulator_FXYD pfam_Ion-transport_regulator_FXYD - no_errors FXYD3 HGNC ENSG00000089356 42 9 17.65 59 0 0.00 FXYD4 53828 genome.wustl.edu 37 10 43870966 43870966 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 43870966 43870966 G C SNP FXYD4 ENST00000374451 human ensembl 70_37 +1 known silent c.117 p.L39 0.991 pfam_Ion-transport_regulator_FXYD pfam_Ion-transport_regulator_FXYD - no_errors FXYD4 HGNC ENSG00000150201 97 50 34.01 95 0 0.00 FXYD5 53827 genome.wustl.edu 37 19 35655056 35655056 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 35655056 35655056 C T SNP FXYD5 ENST00000392217 human ensembl 70_37 +1 known missense c.77 p.S26L 0.038 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD5 HGNC ENSG00000089327 57 22 27.85 80 0 0.00 FXYD6 53826 genome.wustl.edu 37 11 117710540 117710540 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 117710540 117710540 C G SNP FXYD6 ENST00000260282 human ensembl 70_37 -1 known missense c.265 p.E89Q 1.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD6 HGNC ENSG00000137726 16 19 54.29 31 0 0.00 FYB 2533 genome.wustl.edu 37 5 39126186 39126186 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 39126186 39126186 C G SNP FYB ENST00000540520 human ensembl 70_37 -1 known missense c.1989 p.L663F 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 32 64 66.67 52 0 0.00 FYB 2533 genome.wustl.edu 37 5 39269864 39269864 + RNA SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 39269864 39269864 A G SNP FYB ENST00000503065 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors FYB HGNC ENSG00000082074 50 33 39.76 25 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 45999964 45999964 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 45999964 45999964 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.3735 p.S1245R 1.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 22 14 38.89 41 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46003742 46003742 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 46003742 46003742 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.3412 p.E1138K 0.999 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 102 27 20.93 111 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46008029 46008029 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 46008029 46008029 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.2797 p.L933I 0.074 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 21 5 19.23 27 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46008585 46008585 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46008585 46008585 G C SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known silent c.2241 p.L747 0.002 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 16 10 38.46 26 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46008803 46008803 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46008803 46008803 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.004 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 26 15 36.59 13 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46008968 46008968 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 46008968 46008968 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.1858 p.E620K 0.714 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 88 50 35.97 116 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46008989 46008989 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 46008989 46008989 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.1837 p.E613K 0.003 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 23 18 43.90 37 0 0.00 FYCO1 79443 genome.wustl.edu 37 3 46009302 46009302 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 46009302 46009302 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known silent c.1524 p.V508 0.036 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 30 15 33.33 23 0 0.00 FYN 2534 genome.wustl.edu 37 6 111983016 111983016 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 111983016 111983016 C T SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.1540 p.E514K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 41 22 34.92 68 0 0.00 FYN 2534 genome.wustl.edu 37 6 112025271 112025271 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 112025271 112025271 C T SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.478 p.E160K 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 38 9 19.15 40 0 0.00 FYN 2534 genome.wustl.edu 37 6 112029209 112029209 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 112029209 112029209 C A SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.359 p.W120L 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 25 9 26.47 27 0 0.00 FYN 2534 genome.wustl.edu 37 6 112041198 112041198 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 112041198 112041198 G A SNP FYN ENST00000354650 human ensembl 70_37 -1 known silent c.57 p.D19 0.301 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 43 13 23.21 52 0 0.00 FZD1 8321 genome.wustl.edu 37 7 90894521 90894521 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 90894521 90894521 C G SNP FZD1 ENST00000287934 human ensembl 70_37 +1 known missense c.326 p.S109C 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 27 19 41.30 44 0 0.00 FZD10 11211 genome.wustl.edu 37 12 130648279 130648279 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 130648279 130648279 C T SNP FZD10 ENST00000539839 human ensembl 70_37 +1 known missense c.694 p.L232F 1.000 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 34 25 42.37 92 0 0.00 FZD10 11211 genome.wustl.edu 37 12 130648507 130648507 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 130648507 130648507 G A SNP FZD10 ENST00000539839 human ensembl 70_37 +1 known missense c.922 p.E308K 1.000 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 53 20 27.40 108 0 0.00 FZD2 2535 genome.wustl.edu 37 17 42635857 42635857 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 42635857 42635857 G C SNP FZD2 ENST00000315323 human ensembl 70_37 +1 known missense c.801 p.L267F 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 12 8 40.00 34 0 0.00 FZD2 2535 genome.wustl.edu 37 17 42636381 42636381 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 42636381 42636381 G A SNP FZD2 ENST00000315323 human ensembl 70_37 +1 known missense c.1325 p.R442H 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 33 42 56.00 18 0 0.00 FZD3 7976 genome.wustl.edu 37 8 28385334 28385334 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 28385334 28385334 G T SNP FZD3 ENST00000240093 human ensembl 70_37 +1 known nonsense c.1057 p.E353* 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 72 24 24.74 79 0 0.00 FZD4 8322 genome.wustl.edu 37 11 86662235 86662235 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 86662235 86662235 C G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.1563 p.K521N 0.951 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 37 20 35.09 79 0 0.00 FZD4 8322 genome.wustl.edu 37 11 86663136 86663136 + Missense_Mutation SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 86663136 86663136 A G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.662 p.I221T 0.381 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 14 3 17.65 18 0 0.00 FZD4 8322 genome.wustl.edu 37 11 86665856 86665856 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 86665856 86665856 G C SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.272 p.S91C 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 20 11 35.48 59 0 0.00 FZD4 8322 genome.wustl.edu 37 11 86665891 86665891 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 86665891 86665891 C G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known silent c.237 p.L79 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 17 5 21.74 20 0 0.00 FZD5 7855 genome.wustl.edu 37 2 208631837 208631837 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 208631837 208631837 G A SNP FZD5 ENST00000295417 human ensembl 70_37 -1 known missense c.1627 p.R543C 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 23 6 20.69 15 0 0.00 FZD5 7855 genome.wustl.edu 37 2 208633032 208633032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 208633032 208633032 C T SNP FZD5 ENST00000295417 human ensembl 70_37 -1 known silent c.432 p.E144 0.837 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 2 6 75.00 11 0 0.00 FZD5 7855 genome.wustl.edu 37 2 208633201 208633201 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 208633201 208633201 G A SNP FZD5 ENST00000295417 human ensembl 70_37 -1 known missense c.263 p.S88F 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 20 9 31.03 25 0 0.00 FZD6 8323 genome.wustl.edu 37 8 104337017 104337017 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 104337017 104337017 G C SNP FZD6 ENST00000358755 human ensembl 70_37 +1 known missense c.683 p.R228T 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 15 15 50.00 31 0 0.00 FZD6 8323 genome.wustl.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 104337581 104337581 G A SNP FZD6 ENST00000358755 human ensembl 70_37 +1 known missense c.1247 p.R416Q 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 28 15 34.88 67 0 0.00 FZD7 8324 genome.wustl.edu 37 2 202901050 202901050 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202901050 202901050 C G SNP FZD7 ENST00000286201 human ensembl 70_37 +1 known missense c.1680 p.F560L 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 27 5 15.62 19 0 0.00 FZD8 8325 genome.wustl.edu 37 10 35928930 35928930 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 35928930 35928930 C T SNP FZD8 ENST00000374694 human ensembl 70_37 -1 known silent c.1428 p.Q476 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 35 32 47.76 52 0 0.00 FZD8 8325 genome.wustl.edu 37 10 35929095 35929095 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 35929095 35929095 C A SNP FZD8 ENST00000374694 human ensembl 70_37 -1 known missense c.1263 p.W421C 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 13 11 45.83 43 0 0.00 FZR1 51343 genome.wustl.edu 37 19 3526310 3526310 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 3526310 3526310 G A SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known missense c.313 p.E105K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 17 4 19.05 36 0 0.00 FZR1 51343 genome.wustl.edu 37 19 3532042 3532042 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3532042 3532042 C G SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known silent c.957 p.L319 0.966 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 10 4 28.57 11 0 0.00 FZR1 51343 genome.wustl.edu 37 19 3532541 3532541 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 3532541 3532541 G C SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known missense c.1135 p.D379H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 61 11 15.28 57 0 0.00 G0S2 50486 genome.wustl.edu 37 1 209849101 209849101 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 209849101 209849101 G A SNP G0S2 ENST00000367029 human ensembl 70_37 +1 known silent c.72 p.V24 1.000 NULL NULL - no_errors G0S2 HGNC ENSG00000123689 53 33 38.37 70 0 0.00 G2E3 55632 genome.wustl.edu 37 14 31061590 31061590 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 31061590 31061590 G A SNP G2E3 ENST00000206595 human ensembl 70_37 +1 known missense c.299 p.R100Q 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 44 22 33.33 61 0 0.00 G3BP1 10146 genome.wustl.edu 37 5 151175052 151175052 + Nonsense_Mutation SNP A A T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 151175052 151175052 A T SNP G3BP1 ENST00000520177 human ensembl 70_37 +1 known nonsense c.364 p.K122* 1.000 pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 26 3 10.34 53 0 0.00 G3BP2 9908 genome.wustl.edu 37 4 76598498 76598498 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 76598498 76598498 C G SNP G3BP2 ENST00000502654 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors G3BP2 HGNC ENSG00000138757 36 4 10.00 52 0 0.00 G6PC 2538 genome.wustl.edu 37 17 41061433 41061433 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41061433 41061433 C T SNP G6PC ENST00000253801 human ensembl 70_37 +1 known missense c.560 p.S187L 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 138 34 19.77 123 0 0.00 G6PC 2538 genome.wustl.edu 37 17 41062954 41062954 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 41062954 41062954 C T SNP G6PC ENST00000592383 human ensembl 70_37 +1 putative nonsense c.508 p.Q170* 0.999 NULL NULL - no_errors G6PC HGNC ENSG00000131482 41 12 22.64 27 0 0.00 G6PC 2538 genome.wustl.edu 37 17 41063215 41063215 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41063215 41063215 G C SNP G6PC ENST00000253801 human ensembl 70_37 +1 known missense c.846 p.E282D 0.982 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 32 32 50.00 53 0 0.00 G6PC2 57818 genome.wustl.edu 37 2 169764214 169764214 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 169764214 169764214 C A SNP G6PC2 ENST00000375363 human ensembl 70_37 +1 known missense c.693 p.D231E 0.998 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC2 HGNC ENSG00000152254 31 22 41.51 51 0 0.00 G6PC2 57818 genome.wustl.edu 37 2 169764723 169764723 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 169764723 169764723 G C SNP G6PC2 ENST00000461586 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors G6PC2 HGNC ENSG00000152254 8 7 46.67 11 0 0.00 G6PC3 92579 genome.wustl.edu 37 17 42151565 42151565 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42151565 42151565 G C SNP G6PC3 ENST00000269097 human ensembl 70_37 +1 known missense c.256 p.E86Q 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 56 30 34.48 58 0 0.00 G6PD 2539 genome.wustl.edu 37 X 153763457 153763457 + Silent SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 153763457 153763457 G T SNP G6PD ENST00000369620 human ensembl 70_37 -1 known silent c.411 p.L137 1.000 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 87 16 15.53 131 0 0.00 G6PD 2539 genome.wustl.edu 37 X 153763558 153763558 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 153763558 153763558 G A SNP G6PD ENST00000369620 human ensembl 70_37 -1 known missense c.310 p.R104C 0.998 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 90 18 16.67 133 0 0.00 GAA 2548 genome.wustl.edu 37 17 78078694 78078694 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 78078694 78078694 C T SNP GAA ENST00000302262 human ensembl 70_37 +1 known silent c.309 p.C103 0.985 pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 11 8 42.11 29 0 0.00 GAA 2548 genome.wustl.edu 37 17 78078917 78078917 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 78078917 78078917 C T SNP GAA ENST00000302262 human ensembl 70_37 +1 known missense c.532 p.R178C 0.897 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 37 8 17.78 46 0 0.00 GAA 2548 genome.wustl.edu 37 17 78082385 78082385 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 78082385 78082385 G A SNP GAA ENST00000302262 human ensembl 70_37 +1 known missense c.1173 p.M391I 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 35 19 35.19 37 0 0.00 GAA 2548 genome.wustl.edu 37 17 78086486 78086486 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 78086486 78086486 G T SNP GAA ENST00000302262 human ensembl 70_37 +1 known nonsense c.1864 p.E622* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 63 16 20.25 72 0 0.00 GAA 2548 genome.wustl.edu 37 17 78086747 78086747 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 78086747 78086747 C T SNP GAA ENST00000302262 human ensembl 70_37 +1 known missense c.1961 p.S654L 0.003 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 32 24 42.86 67 0 0.00 GAB1 2549 genome.wustl.edu 37 4 144359481 144359481 + Missense_Mutation SNP A A T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 4 144359481 144359481 A T SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known missense c.923 p.D308V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 27 4 12.90 36 0 0.00 GAB1 2549 genome.wustl.edu 37 4 144359596 144359596 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 144359596 144359596 G A SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known silent c.1038 p.P346 0.292 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 17 39 69.64 145 0 0.00 GAB1 2549 genome.wustl.edu 37 4 144359596 144359596 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 144359596 144359596 G A SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known silent c.1038 p.P346 0.292 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 5 18 78.26 25 0 0.00 GAB1 2549 genome.wustl.edu 37 4 144380582 144380582 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 144380582 144380582 G C SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known missense c.1720 p.E574Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 27 11 28.95 46 0 0.00 GAB2 9846 genome.wustl.edu 37 11 77934520 77934520 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 77934520 77934520 G A SNP GAB2 ENST00000361507 human ensembl 70_37 -1 known missense c.1505 p.P502L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 65 9 12.16 101 1 0.97 GAB3 139716 genome.wustl.edu 37 X 153906377 153906378 + RNA INS - - A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 153906377 153906378 - A INS GAB3 ENST00000496390 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.006 - - - no_errors GAB3 HGNC ENSG00000160219 21 4 16.00 27 0 0.00 GAB3 139716 genome.wustl.edu 37 X 153940975 153940975 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 153940975 153940975 G C SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known missense c.598 p.L200V 0.099 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 22 3 12.00 27 0 0.00 GAB3 139716 genome.wustl.edu 37 X 153941667 153941667 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 153941667 153941667 G A SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known silent c.411 p.S137 0.989 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 194 23 10.60 149 0 0.00 GAB3 139716 genome.wustl.edu 37 X 153944425 153944425 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe X 153944425 153944425 G A SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known silent c.252 p.F84 0.403 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 24 11 31.43 50 0 0.00 GAB4 128954 genome.wustl.edu 37 22 17444720 17444720 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 17444720 17444720 C T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known splice_site c.1477-1 e9-1 1.000 - - - no_errors GAB4 HGNC ENSG00000215568 19 13 40.62 48 0 0.00 GAB4 128954 genome.wustl.edu 37 22 17444720 17444720 + Splice_Site SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 17444720 17444720 C T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known splice_site c.1477-1 e9-1 1.000 - - - no_errors GAB4 HGNC ENSG00000215568 43 7 14.00 44 0 0.00 GAB4 128954 genome.wustl.edu 37 22 17445751 17445751 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 17445751 17445751 G T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known missense c.1381 p.H461N 0.882 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 43 17 28.33 80 0 0.00 GAB4 128954 genome.wustl.edu 37 22 17469015 17469015 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 17469015 17469015 G C SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known missense c.521 p.S174C 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 38 26 40.62 41 0 0.00 GABARAP 11337 genome.wustl.edu 37 17 7144732 7144732 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7144732 7144732 C T SNP GABARAP ENST00000302386 human ensembl 70_37 -1 known missense c.217 p.E73K 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors GABARAP HGNC ENSG00000170296 21 13 38.24 34 0 0.00 GABARAPL1 23710 genome.wustl.edu 37 12 10373281 10373281 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 10373281 10373281 C A SNP GABARAPL1 ENST00000421801 human ensembl 70_37 +1 putative missense c.412 p.P138T 0.990 NULL pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors GABARAPL1 HGNC ENSG00000139112 55 15 21.13 31 0 0.00 GABARAPL2 11345 genome.wustl.edu 37 16 75611123 75611123 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 75611123 75611123 C G SNP GABARAPL2 ENST00000565985 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors GABARAPL2 HGNC ENSG00000034713 24 8 25.00 34 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29574685 29574685 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 29574685 29574685 G A SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.2206 p.R736W 0.998 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 18 7 28.00 34 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29577078 29577078 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 29577078 29577078 G A SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.1787 p.S596L 1.000 prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 21 10 32.26 38 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29589055 29589055 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29589055 29589055 A G SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known silent c.1146 p.R382 0.996 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 27 5 15.62 39 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29591239 29591239 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 29591239 29591239 G C SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.806 p.S269C 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 8 13 61.90 49 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29596956 29596956 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 29596956 29596956 C A SNP GABBR1 ENST00000489385 human ensembl 70_37 -1 known missense c.544 p.A182S 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors GABBR1 HGNC ENSG00000204681 45 17 26.98 40 0 0.00 GABBR1 2550 genome.wustl.edu 37 6 29599339 29599339 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 29599339 29599339 G C SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.123 p.I41M 1.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 94 24 20.17 188 0 0.00 GABBR2 9568 genome.wustl.edu 37 9 101056174 101056174 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 101056174 101056174 C A SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known missense c.2553 p.K851N 1.000 prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC ENSG00000136928 50 10 16.67 79 0 0.00 GABBR2 9568 genome.wustl.edu 37 9 101061587 101061587 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 101061587 101061587 C G SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known missense c.2461 p.E821Q 1.000 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC ENSG00000136928 154 48 23.76 182 0 0.00 GABBR2 9568 genome.wustl.edu 37 9 101235587 101235587 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 101235587 101235587 G A SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known silent c.840 p.I280 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC ENSG00000136928 23 15 39.47 20 0 0.00 GABPB1 2553 genome.wustl.edu 37 15 50596276 50596276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 50596276 50596276 C G SNP GABPB1 ENST00000220429 human ensembl 70_37 -1 known missense c.163 p.E55Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC ENSG00000104064 125 32 20.38 170 0 0.00 GABPB2 126626 genome.wustl.edu 37 1 151076068 151076068 + Nonsense_Mutation SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 151076068 151076068 C G SNP GABPB2 ENST00000368918 human ensembl 70_37 +1 known nonsense c.653 p.S218* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC ENSG00000143458 62 8 11.43 49 0 0.00 GABRA1 2554 genome.wustl.edu 37 5 161277835 161277835 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 161277835 161277835 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known silent c.19 p.L7 0.600 prints_GABBAa1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 36 7 16.28 64 0 0.00 GABRA1 2554 genome.wustl.edu 37 5 161281255 161281255 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 161281255 161281255 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known missense c.166 p.R56C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 36 32 47.06 25 0 0.00 GABRA1 2554 genome.wustl.edu 37 5 161281255 161281255 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 161281255 161281255 C T SNP GABRA1 ENST00000023897 human ensembl 70_37 +1 known missense c.166 p.R56C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 54 40 42.55 83 0 0.00 GABRA2 2555 genome.wustl.edu 37 4 46252457 46252457 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 4 46252457 46252457 C A SNP GABRA2 ENST00000540012 human ensembl 70_37 -1 known missense c.1239 p.K413N 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 169 40 19.14 281 0 0.00 GABRA2 2555 genome.wustl.edu 37 4 46263983 46263983 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 46263983 46263983 C G SNP GABRA2 ENST00000540012 human ensembl 70_37 -1 known missense c.854 p.R285T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 18 14 43.75 41 0 0.00 GABRA4 2557 genome.wustl.edu 37 4 46973127 46973127 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 46973127 46973127 C A SNP GABRA4 ENST00000264318 human ensembl 70_37 -1 known nonsense c.847 p.E283* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 16 13 44.83 53 0 0.00 GABRA5 2558 genome.wustl.edu 37 15 27114345 27114345 + RNA SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 27114345 27114345 G T SNP GABRA5 ENST00000557449 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GABRA5 HGNC ENSG00000186297 40 25 38.46 42 0 0.00 GABRA5 2558 genome.wustl.edu 37 15 27193366 27193366 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 27193366 27193366 G A SNP GABRA5 ENST00000335625 human ensembl 70_37 +1 known missense c.1375 p.A459T 0.001 prints_GABBAa5_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 67 17 20.24 56 0 0.00 GABRA6 2559 genome.wustl.edu 37 5 161128674 161128674 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 161128674 161128674 G A SNP GABRA6 ENST00000274545 human ensembl 70_37 +1 known silent c.1257 p.Q419 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 22 9 29.03 36 0 0.00 GABRA6 2559 genome.wustl.edu 37 5 161128681 161128681 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 161128681 161128681 C T SNP GABRA6 ENST00000274545 human ensembl 70_37 +1 known nonsense c.1264 p.R422* 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 11 6 35.29 22 0 0.00 GABRB1 2560 genome.wustl.edu 37 4 47405722 47405722 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 47405722 47405722 G A SNP GABRB1 ENST00000295454 human ensembl 70_37 +1 known missense c.829 p.A277T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 33 6 15.38 51 0 0.00 GABRB1 2560 genome.wustl.edu 37 4 47427865 47427865 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 47427865 47427865 G T SNP GABRB1 ENST00000295454 human ensembl 70_37 +1 known missense c.1255 p.D419Y 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 39 9 18.75 53 0 0.00 GABRB2 2561 genome.wustl.edu 37 5 160886733 160886733 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 160886733 160886733 C G SNP GABRB2 ENST00000274547 human ensembl 70_37 -1 known missense c.355 p.D119H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 60 8 11.76 46 0 0.00 GABRB2 2561 genome.wustl.edu 37 5 160973755 160973755 + RNA SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 160973755 160973755 A G SNP GABRB2 ENST00000523730 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GABRB2 HGNC ENSG00000145864 22 9 29.03 18 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 26806135 26806135 + Missense_Mutation SNP G G T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 15 26806135 26806135 G T SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.1024 p.L342I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 85 21 19.44 114 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 26812812 26812812 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 26812812 26812812 A C SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.751 p.Y251D 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 8 11 57.89 31 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 26828494 26828494 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 26828494 26828494 G C SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.529 p.L177V 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 23 11 32.35 79 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 26866676 26866676 + Silent SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 26866676 26866676 A G SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known silent c.246 p.Y82 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 49 10 16.95 82 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 27017880 27017880 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 15 27017880 27017880 C T SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known silent c.120 p.T40 0.993 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 19 7 26.92 26 0 0.00 GABRB3 2562 genome.wustl.edu 37 15 27184442 27184442 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 27184442 27184442 C A SNP GABRB3 ENST00000541819 human ensembl 70_37 -1 putative nonsense c.142 p.E48* 1.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 23 7 23.33 31 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1956825 1956825 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 1956825 1956825 C A SNP GABRD ENST00000378585 human ensembl 70_37 +1 known silent c.234 p.I78 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 12 9 42.86 28 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1961008 1961008 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 1961008 1961008 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known missense c.866 p.T289M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 34 4 10.53 44 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1961453 1961453 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 1961453 1961453 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known missense c.1091 p.S364F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 38 19 33.33 41 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1961472 1961472 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 1961472 1961472 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known silent c.1110 p.V370 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 39 18 31.58 41 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1961582 1961582 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 1961582 1961582 C A SNP GABRD ENST00000378585 human ensembl 70_37 +1 known missense c.1220 p.A407D 0.001 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 41 13 24.07 55 0 0.00 GABRD 2563 genome.wustl.edu 37 1 1961652 1961652 + Silent SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 1961652 1961652 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known silent c.1290 p.Y430 0.902 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 30 13 30.23 61 0 0.00 GABRE 2564 genome.wustl.edu 37 X 151121844 151121844 + RNA SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 151121844 151121844 C A SNP GABRE ENST00000483564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GABRE HGNC ENSG00000102287 49 13 20.97 34 0 0.00 GABRE 2564 genome.wustl.edu 37 X 151123327 151123327 + Missense_Mutation SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 151123327 151123327 T A SNP GABRE ENST00000370328 human ensembl 70_37 -1 known missense c.1367 p.Y456F 0.990 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 78 12 13.33 128 0 0.00 GABRE 2564 genome.wustl.edu 37 X 151123464 151123464 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 151123464 151123464 G A SNP GABRE ENST00000370328 human ensembl 70_37 -1 known silent c.1230 p.V410 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAe_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 104 39 27.08 100 0 0.00 GABRE 2564 genome.wustl.edu 37 X 151127557 151127557 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 151127557 151127557 G A SNP GABRE ENST00000393914 human ensembl 70_37 -1 known silent c.270 p.L90 0.780 NULL NULL - no_errors GABRE HGNC ENSG00000102287 33 12 26.67 26 0 0.00 GABRG1 2565 genome.wustl.edu 37 4 46060338 46060338 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 46060338 46060338 C A SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.812 p.G271V 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 34 22 39.29 27 0 0.00 GABRG1 2565 genome.wustl.edu 37 4 46060339 46060339 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 46060339 46060339 C G SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.811 p.G271R 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 34 21 38.18 27 0 0.00 GABRG1 2565 genome.wustl.edu 37 4 46060368 46060368 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 46060368 46060368 G A SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.782 p.T261I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 35 14 28.57 54 0 0.00 GABRG2 2566 genome.wustl.edu 37 5 161495040 161495040 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 161495040 161495040 C T SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.35 p.S12L 0.886 prints_GABBAg2_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 38 10 20.83 39 0 0.00 GABRG2 2566 genome.wustl.edu 37 5 161520913 161520913 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 161520913 161520913 G A SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.187 p.E63K 1.000 prints_GABBAg_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 51 76 59.84 189 0 0.00 GABRG2 2566 genome.wustl.edu 37 5 161576257 161576257 + Missense_Mutation SNP T T A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 5 161576257 161576257 T A SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.1066 p.L356M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 18 14 43.75 61 0 0.00 GABRG3 2567 genome.wustl.edu 37 15 27222246 27222246 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 27222246 27222246 C T SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.151 p.L51F 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 85 58 40.56 150 0 0.00 GABRG3 2567 genome.wustl.edu 37 15 27572007 27572007 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 27572007 27572007 C T SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known nonsense c.322 p.R108* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 18 20 52.63 40 0 0.00 GABRG3 2567 genome.wustl.edu 37 15 27572024 27572024 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 27572024 27572024 G C SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.339 p.M113I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 31 42 56.76 57 0 0.00 GABRG3 2567 genome.wustl.edu 37 15 27572055 27572055 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 27572055 27572055 G C SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.370 p.G124R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 33 33 50.00 48 0 0.00 GABRP 2568 genome.wustl.edu 37 5 170236741 170236741 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 170236741 170236741 G C SNP GABRP ENST00000265294 human ensembl 70_37 +1 known missense c.1002 p.Q334H 0.998 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 78 30 27.78 119 0 0.00 GABRQ 55879 genome.wustl.edu 37 X 151818219 151818219 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 151818219 151818219 G A SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known missense c.625 p.E209K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 25 15 37.50 27 0 0.00 GABRQ 55879 genome.wustl.edu 37 X 151818973 151818973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 151818973 151818973 C T SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known silent c.831 p.V277 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 76 40 34.48 159 0 0.00 GABRQ 55879 genome.wustl.edu 37 X 151821378 151821378 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 151821378 151821378 C T SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known silent c.1533 p.G511 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 51 7 12.07 68 0 0.00 GABRR1 2569 genome.wustl.edu 37 6 89888707 89888707 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89888707 89888707 C A SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known missense c.1222 p.D408Y 1.000 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 42 27 38.57 80 0 0.00 GABRR1 2569 genome.wustl.edu 37 6 89895170 89895170 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 89895170 89895170 C T SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known splice_site c.656-1 e7-1 1.000 - - - no_errors GABRR1 HGNC ENSG00000146276 146 29 16.57 192 0 0.00 GABRR1 2569 genome.wustl.edu 37 6 89907951 89907951 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89907951 89907951 C T SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known missense c.360 p.M120I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 37 19 33.33 51 0 0.00 GABRR2 2570 genome.wustl.edu 37 6 89974134 89974134 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 89974134 89974134 C T SNP GABRR2 ENST00000402938 human ensembl 70_37 -1 known silent c.1158 p.E386 0.006 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 33 28 45.90 61 0 0.00 GAD1 2571 genome.wustl.edu 37 2 171675139 171675139 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 171675139 171675139 C G SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.38 p.S13W 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 15 10 40.00 25 0 0.00 GAD1 2571 genome.wustl.edu 37 2 171678647 171678647 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 171678647 171678647 C G SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.133 p.L45V 0.999 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 45 7 13.46 64 0 0.00 GAD1 2571 genome.wustl.edu 37 2 171702015 171702015 + Splice_Site SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 171702015 171702015 G A SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known splice_site c.752-1 e7-1 1.000 - - - no_errors GAD1 HGNC ENSG00000128683 21 7 25.00 48 0 0.00 GAD1 2571 genome.wustl.edu 37 2 171702126 171702126 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 171702126 171702126 G A SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.862 p.E288K 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 26 15 36.59 59 0 0.00 GAD1 2571 genome.wustl.edu 37 2 171710457 171710457 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 171710457 171710457 C T SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known silent c.1338 p.Y446 0.007 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC ENSG00000128683 23 17 42.50 75 0 0.00 GADD45B 4616 genome.wustl.edu 37 19 2476585 2476585 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 2476585 2476585 C T SNP GADD45B ENST00000215631 human ensembl 70_37 +1 known missense c.103 p.R35C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC ENSG00000099860 53 28 34.57 65 0 0.00 GADD45B 4616 genome.wustl.edu 37 19 2477087 2477087 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 2477087 2477087 C T SNP GADD45B ENST00000215631 human ensembl 70_37 +1 known silent c.207 p.I69 0.999 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC ENSG00000099860 84 10 10.53 116 0 0.00 GADL1 339896 genome.wustl.edu 37 3 30820211 30820212 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 30820211 30820212 - T INS GADL1 ENST00000498387 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors GADL1 HGNC ENSG00000144644 11 2 15.38 35 0 0.00 GAGE10 102724473 genome.wustl.edu 37 X 49173691 49173691 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 49173691 49173691 G A SNP GAGE10 ENST00000407599 human ensembl 70_37 +1 known silent c.252 p.G84 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE10 HGNC ENSG00000215274 142 100 41.32 210 0 0.00 GAGE12H 729442 genome.wustl.edu 37 X 49346276 49346276 + Missense_Mutation SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 49346276 49346276 A C SNP GAGE12H ENST00000381722 human ensembl 70_37 +1 known missense c.105 p.E35D 0.001 pfam_GAGE pfam_GAGE - no_errors GAGE12H HGNC ENSG00000224902 327 100 23.42 368 0 0.00 GAK 2580 genome.wustl.edu 37 4 870335 870335 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 870335 870335 G A SNP GAK ENST00000314167 human ensembl 70_37 -1 known silent c.2037 p.T679 0.743 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC ENSG00000178950 33 4 10.81 47 0 0.00 GAK 2580 genome.wustl.edu 37 4 877234 877234 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 877234 877234 C T SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.1273 p.E425K 0.995 pfscan_Phosphatase_tensin-typ pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC ENSG00000178950 33 25 43.10 56 0 0.00 GAK 2580 genome.wustl.edu 37 4 887749 887749 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 887749 887749 C T SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.790 p.E264K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC ENSG00000178950 42 5 10.64 54 0 0.00 GAK 2580 genome.wustl.edu 37 4 907427 907427 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 907427 907427 C G SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.175 p.D59H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC ENSG00000178950 24 22 47.83 37 0 0.00 GAL 51083 genome.wustl.edu 37 11 68453095 68453095 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 68453095 68453095 G A SNP GAL ENST00000265643 human ensembl 70_37 +1 known missense c.115 p.A39T 1.000 pfam_Galanin,smart_Galanin_pre,prints_Galanin pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin - no_errors GAL HGNC ENSG00000069482 72 10 12.20 60 0 0.00 GAL 51083 genome.wustl.edu 37 11 68455487 68455487 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 68455487 68455487 G T SNP GAL ENST00000265643 human ensembl 70_37 +1 known missense c.142 p.V48F 0.001 pfam_Galanin,smart_Galanin_pre,prints_Galanin pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin - no_errors GAL HGNC ENSG00000069482 37 14 27.45 61 0 0.00 GAL3ST1 9514 genome.wustl.edu 37 22 30951193 30951193 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 30951193 30951193 C T SNP GAL3ST1 ENST00000338911 human ensembl 70_37 -1 known missense c.1019 p.R340H 0.991 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 44 15 25.00 39 0 0.00 GAL3ST1 9514 genome.wustl.edu 37 22 30953252 30953252 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 30953252 30953252 G C SNP GAL3ST1 ENST00000338911 human ensembl 70_37 -1 known missense c.128 p.S43C 0.992 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 37 33 47.14 58 0 0.00 GAL3ST2 64090 genome.wustl.edu 37 2 242742869 242742869 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 242742869 242742869 G A SNP GAL3ST2 ENST00000192314 human ensembl 70_37 +1 known missense c.485 p.R162Q 0.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST2 HGNC ENSG00000154252 45 35 43.21 69 0 0.00 GAL3ST2 64090 genome.wustl.edu 37 2 242743053 242743053 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 242743053 242743053 G T SNP GAL3ST2 ENST00000192314 human ensembl 70_37 +1 known silent c.669 p.L223 0.994 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST2 HGNC ENSG00000154252 27 4 12.90 39 0 0.00 GAL3ST3 89792 genome.wustl.edu 37 11 65810621 65810621 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 65810621 65810621 C T SNP GAL3ST3 ENST00000312006 human ensembl 70_37 -1 known missense c.653 p.R218H 0.560 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST3 HGNC ENSG00000175229 36 16 30.77 31 0 0.00 GAL3ST4 79690 genome.wustl.edu 37 7 99764665 99764665 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99764665 99764665 C G SNP GAL3ST4 ENST00000426974 human ensembl 70_37 -1 known missense c.172 p.G58R 0.997 NULL pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST4 HGNC ENSG00000197093 63 20 24.10 54 0 0.00 GALC 2581 genome.wustl.edu 37 14 88452831 88452831 + Splice_Site SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 88452831 88452831 A G SNP GALC ENST00000261304 human ensembl 70_37 -1 known splice_site c.442+2 e4+2 1.000 - - - no_errors GALC HGNC ENSG00000054983 22 12 35.29 20 0 0.00 GALK1 2584 genome.wustl.edu 37 17 73754155 73754155 + Silent SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73754155 73754155 G T SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known silent c.1251 p.A417 0.998 pirsf_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 23 4 14.81 17 0 0.00 GALK1 2584 genome.wustl.edu 37 17 73759142 73759142 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73759142 73759142 G A SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known silent c.654 p.F218 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 29 46 61.33 83 0 0.00 GALK1 2584 genome.wustl.edu 37 17 73760097 73760097 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73760097 73760097 G A SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known missense c.326 p.S109F 0.098 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 11 18 62.07 46 0 0.00 GALK1 2584 genome.wustl.edu 37 17 73760097 73760097 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 73760097 73760097 G C SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known missense c.326 p.S109C 0.098 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 36 7 16.28 52 0 0.00 GALK2 2585 genome.wustl.edu 37 15 49528054 49528054 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 49528054 49528054 C A SNP GALK2 ENST00000560031 human ensembl 70_37 +1 known missense c.273 p.F91L 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 74 14 15.91 66 0 0.00 GALM 130589 genome.wustl.edu 37 2 38893461 38893461 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 38893461 38893461 C G SNP GALM ENST00000272252 human ensembl 70_37 +1 known missense c.158 p.S53W 1.000 pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd - no_errors GALM HGNC ENSG00000143891 22 9 29.03 37 0 0.00 GALNS 2588 genome.wustl.edu 37 16 88891256 88891256 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 88891256 88891256 G A SNP GALNS ENST00000268695 human ensembl 70_37 -1 known silent c.1161 p.G387 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 23 9 28.12 29 0 0.00 GALNS 2588 genome.wustl.edu 37 16 88891256 88891256 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 88891256 88891256 G A SNP GALNS ENST00000268695 human ensembl 70_37 -1 known silent c.1161 p.G387 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 49 13 20.63 75 0 0.00 GALNS 2588 genome.wustl.edu 37 16 88898465 88898465 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 88898465 88898465 C G SNP GALNS ENST00000268695 human ensembl 70_37 -1 known missense c.943 p.E315Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 23 9 28.12 24 0 0.00 GALNS 2588 genome.wustl.edu 37 16 88902139 88902139 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 88902139 88902139 C T SNP GALNS ENST00000268695 human ensembl 70_37 -1 known missense c.752 p.R251Q 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 43 15 25.86 28 0 0.00 GALNT1 2589 genome.wustl.edu 37 18 33257664 33257664 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 33257664 33257664 C T SNP GALNT1 ENST00000269195 human ensembl 70_37 +1 known missense c.424 p.R142C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 8 24 75.00 32 0 0.00 GALNT1 2589 genome.wustl.edu 37 18 33267010 33267010 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 33267010 33267010 G A SNP GALNT1 ENST00000269195 human ensembl 70_37 +1 known silent c.720 p.V240 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 74 22 22.92 89 0 0.00 GALNT10 55568 genome.wustl.edu 37 5 153755919 153755919 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 153755919 153755919 G A SNP GALNT10 ENST00000297107 human ensembl 70_37 +1 known silent c.651 p.L217 0.988 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 39 32 45.07 97 0 0.00 GALNT11 63917 genome.wustl.edu 37 7 151802441 151802441 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 151802441 151802441 C T SNP GALNT11 ENST00000320311 human ensembl 70_37 +1 known missense c.698 p.A233V 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 31 9 22.50 30 0 0.00 GALNT11 63917 genome.wustl.edu 37 7 151814303 151814303 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 7 151814303 151814303 G A SNP GALNT11 ENST00000320311 human ensembl 70_37 +1 known missense c.1295 p.R432H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 14 19 57.58 45 0 0.00 GALNT13 114805 genome.wustl.edu 37 2 155102390 155102390 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 155102390 155102390 C T SNP GALNT13 ENST00000409237 human ensembl 70_37 +1 known missense c.752 p.S251L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 71 37 34.26 100 0 0.00 GALNT14 79623 genome.wustl.edu 37 2 31147626 31147626 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 31147626 31147626 C A SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.1215 p.E405D 0.898 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 41 5 10.87 55 0 0.00 GALNT14 79623 genome.wustl.edu 37 2 31152319 31152319 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 31152319 31152319 C G SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.1093 p.E365Q 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 59 17 22.37 82 0 0.00 GALNT14 79623 genome.wustl.edu 37 2 31215713 31215713 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 31215713 31215713 C T SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.290 p.R97H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 41 13 24.07 47 0 0.00 GALNT2 2590 genome.wustl.edu 37 1 230398692 230398692 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 230398692 230398692 G A SNP GALNT2 ENST00000366672 human ensembl 70_37 +1 known silent c.1254 p.R418 0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 204 55 21.15 178 1 0.55 GALNT3 2591 genome.wustl.edu 37 2 166621549 166621549 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166621549 166621549 A C SNP GALNT3 ENST00000392701 human ensembl 70_37 -1 known missense c.533 p.F178C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 8 7 46.67 20 0 0.00 GALNT4 8693 genome.wustl.edu 37 12 89917392 89917392 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 89917392 89917392 C T SNP GALNT4 ENST00000529983 human ensembl 70_37 -1 known missense c.935 p.G312E 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 54 8 12.90 40 0 0.00 GALNT4 8693 genome.wustl.edu 37 12 89917415 89917415 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 89917415 89917415 G C SNP GALNT4 ENST00000529983 human ensembl 70_37 -1 known missense c.912 p.I304M 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 26 4 12.50 50 0 0.00 GALNT5 11227 genome.wustl.edu 37 2 158142597 158142597 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 158142597 158142597 G C SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.1692 p.E564D 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 19 15 44.12 56 0 0.00 GALNT5 11227 genome.wustl.edu 37 2 158142597 158142597 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 158142597 158142597 G C SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.1692 p.E564D 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 33 41 55.41 32 0 0.00 GALNT5 11227 genome.wustl.edu 37 2 158167780 158167780 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 158167780 158167780 C G SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.2743 p.Q915E 0.988 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 42 18 30.00 34 0 0.00 GALNT5 11227 genome.wustl.edu 37 2 158167845 158167845 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 158167845 158167845 A G SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known silent c.2808 p.K936 0.440 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 41 39 48.75 16 0 0.00 GALNT6 11226 genome.wustl.edu 37 12 51752955 51752955 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 51752955 51752955 G T SNP GALNT6 ENST00000356317 human ensembl 70_37 -1 known missense c.1329 p.F443L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 19 9 32.14 50 0 0.00 GALNT7 51809 genome.wustl.edu 37 4 174169343 174169343 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 174169343 174169343 C T SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known silent c.339 p.L113 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 18 10 34.48 34 0 0.00 GALNT7 51809 genome.wustl.edu 37 4 174223308 174223308 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 174223308 174223308 C T SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known missense c.1259 p.S420L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 11 14 56.00 61 0 0.00 GALNT7 51809 genome.wustl.edu 37 4 174242730 174242730 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 174242730 174242730 G A SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known splice_site c.1837-1 e12-1 1.000 - - - no_errors GALNT7 HGNC ENSG00000109586 35 10 22.22 36 0 0.00 GALNT8 26290 genome.wustl.edu 37 12 4848368 4848368 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 4848368 4848368 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.549 p.L183 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 89 37 29.37 146 0 0.00 GALNT8 26290 genome.wustl.edu 37 12 4870147 4870147 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 4870147 4870147 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.1197 p.V399 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 50 50 49.50 127 0 0.00 GALNT8 26290 genome.wustl.edu 37 12 4870147 4870147 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 4870147 4870147 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.1197 p.V399 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 51 29 36.25 38 0 0.00 GALNT9 50614 genome.wustl.edu 37 12 132811487 132811487 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 132811487 132811487 C A SNP GALNT9 ENST00000535228 human ensembl 70_37 -1 known missense c.201 p.E67D 0.001 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 26 19 42.22 40 0 0.00 GALNT9 50614 genome.wustl.edu 37 12 132834240 132834240 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132834240 132834240 G A SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.947 p.S316L 0.945 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 10 9 47.37 35 0 0.00 GALNT9 50614 genome.wustl.edu 37 12 132837615 132837615 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 132837615 132837615 C T SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.680 p.R227H 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 23 13 36.11 37 0 0.00 GALNT9 50614 genome.wustl.edu 37 12 132905692 132905692 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 132905692 132905692 C T SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.98 p.R33H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 37 14 27.45 35 0 0.00 GALNT16 57452 genome.wustl.edu 37 14 69726943 69726943 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 69726943 69726943 G A SNP GALNTL1 ENST00000554317 human ensembl 70_37 +1 putative rna NULL NULL 0.082 - - - no_errors GALNTL1 HGNC ENSG00000100626 11 10 47.62 16 0 0.00 GALNT15 117248 genome.wustl.edu 37 3 16216965 16216965 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 16216965 16216965 C A SNP GALNTL2 ENST00000339732 human ensembl 70_37 +1 known missense c.307 p.Q103K 0.989 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC ENSG00000131386 22 19 46.34 26 0 0.00 GALNT15 117248 genome.wustl.edu 37 3 16216966 16216966 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 16216966 16216966 A G SNP GALNTL2 ENST00000339732 human ensembl 70_37 +1 known missense c.308 p.Q103R 0.988 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC ENSG00000131386 21 19 47.50 26 0 0.00 GALNT15 117248 genome.wustl.edu 37 3 16273312 16273312 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 16273312 16273312 G T SNP GALNTL2 ENST00000437509 human ensembl 70_37 +1 putative missense c.1786 p.A596S 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC ENSG00000131386 35 4 10.26 35 0 0.00 GALNT18 374378 genome.wustl.edu 37 11 11398878 11398878 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 11398878 11398878 G A SNP GALNTL4 ENST00000227756 human ensembl 70_37 -1 known silent c.828 p.I276 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL4 HGNC ENSG00000110328 48 8 14.29 66 0 0.00 GALNTL5 168391 genome.wustl.edu 37 7 151711802 151711802 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151711802 151711802 G A SNP GALNTL5 ENST00000392800 human ensembl 70_37 +1 known missense c.1100 p.G367E 0.000 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 108 37 25.52 140 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 172734709 172734709 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 172734709 172734709 T A SNP GALNTL6 ENST00000504379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GALNTL6 HGNC ENSG00000174473 16 35 68.63 25 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 172735776 172735776 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172735776 172735776 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.45 p.F15L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 32 18 34.62 28 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 172735776 172735776 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172735776 172735776 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.45 p.F15L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 70 26 26.80 82 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 173150836 173150836 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 173150836 173150836 A G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known silent c.168 p.Q56 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 28 22 44.00 62 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 173942728 173942728 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 173942728 173942728 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known silent c.1590 p.L530 0.903 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 25 47 64.38 107 0 0.00 GALNTL6 442117 genome.wustl.edu 37 4 173942763 173942763 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 4 173942763 173942763 G T SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.1625 p.W542L 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 31 4 11.43 33 0 0.00 GALR2 8811 genome.wustl.edu 37 17 74072990 74072990 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74072990 74072990 C G SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC ENSG00000182687 39 10 20.41 67 0 0.00 GALR2 8811 genome.wustl.edu 37 17 74073113 74073113 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74073113 74073113 C T SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.765 p.L255 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC ENSG00000182687 13 11 45.83 31 0 0.00 GALR2 8811 genome.wustl.edu 37 17 74073164 74073164 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74073164 74073164 G A SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.816 p.A272 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC ENSG00000182687 24 3 11.11 38 0 0.00 GALR2 8811 genome.wustl.edu 37 17 74073178 74073178 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74073178 74073178 C G SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known missense c.830 p.S277W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC ENSG00000182687 20 9 31.03 38 0 0.00 GALT 2592 genome.wustl.edu 37 9 34646747 34646747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 34646747 34646747 G C SNP GALT ENST00000378842 human ensembl 70_37 +1 known missense c.46 p.E16Q 0.999 pirsf_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 111 172 60.78 115 0 0.00 GALT 2592 genome.wustl.edu 37 9 34649556 34649556 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 34649556 34649556 G T SNP GALT ENST00000378842 human ensembl 70_37 +1 known nonsense c.1054 p.E352* 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 30 17 36.17 44 0 0.00 GAMT 2593 genome.wustl.edu 37 19 1399900 1399900 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1399900 1399900 G A SNP GAMT ENST00000447102 human ensembl 70_37 -1 known silent c.219 p.I73 1.000 NULL NULL - no_errors GAMT HGNC ENSG00000130005 9 10 52.63 30 0 0.00 GAN 8139 genome.wustl.edu 37 16 81348827 81348827 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81348827 81348827 G C SNP GAN ENST00000248272 human ensembl 70_37 +1 known missense c.109 p.D37H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000127688 23 8 25.81 22 0 0.00 GAN 8139 genome.wustl.edu 37 16 81411053 81411053 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 81411053 81411053 G T SNP GAN ENST00000248272 human ensembl 70_37 +1 known missense c.1646 p.R549I 0.999 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000127688 23 4 14.81 16 0 0.00 GANAB 23193 genome.wustl.edu 37 11 62393834 62393834 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 62393834 62393834 G A SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.2663 p.S888L 0.968 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 43 17 28.33 74 0 0.00 GANAB 23193 genome.wustl.edu 37 11 62397703 62397703 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 62397703 62397703 C T SNP GANAB ENST00000346178 human ensembl 70_37 -1 known nonsense c.1625 p.W542* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 10 5 33.33 40 0 0.00 GANAB 23193 genome.wustl.edu 37 11 62398095 62398095 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 62398095 62398095 C T SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.1430 p.R477H 0.351 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 27 14 34.15 28 0 0.00 GANAB 23193 genome.wustl.edu 37 11 62400673 62400673 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62400673 62400673 G A SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.767 p.S256F 0.665 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 33 34 50.75 61 0 0.00 GANC 2595 genome.wustl.edu 37 15 42631869 42631869 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 42631869 42631869 G C SNP GANC ENST00000318010 human ensembl 70_37 +1 known missense c.1846 p.D616H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC ENSG00000214013 42 14 25.00 44 0 0.00 GANC 2595 genome.wustl.edu 37 15 42632033 42632033 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 42632033 42632033 C T SNP GANC ENST00000318010 human ensembl 70_37 +1 known silent c.2010 p.I670 0.993 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC ENSG00000214013 20 14 41.18 33 0 0.00 GAP43 2596 genome.wustl.edu 37 3 115394886 115394886 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 115394886 115394886 G C SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.57 p.K19N 1.000 pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 40 18 31.03 79 0 0.00 GAP43 2596 genome.wustl.edu 37 3 115394992 115394992 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 115394992 115394992 A G SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.163 p.K55E 1.000 pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 43 10 18.87 37 0 0.00 GAP43 2596 genome.wustl.edu 37 3 115395319 115395319 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 115395319 115395319 G A SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.490 p.E164K 1.000 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 73 28 27.72 39 0 0.00 GAPDH 2597 genome.wustl.edu 37 12 6646823 6646823 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6646823 6646823 G T SNP GAPDH ENST00000229239 human ensembl 70_37 +1 known missense c.599 p.R200L 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 43 17 28.33 50 0 0.00 GAPDHS 26330 genome.wustl.edu 37 19 36034590 36034590 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 36034590 36034590 G A SNP GAPDHS ENST00000222286 human ensembl 70_37 +1 known missense c.917 p.R306Q 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 135 16 10.53 84 0 0.00 GAPDHS 26330 genome.wustl.edu 37 19 36035818 36035818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36035818 36035818 C G SNP GAPDHS ENST00000222286 human ensembl 70_37 +1 known missense c.1064 p.S355C 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 33 15 31.25 50 0 0.00 GAPVD1 26130 genome.wustl.edu 37 9 128064910 128064910 + Missense_Mutation SNP T T G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 128064910 128064910 T G SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.834 p.H278Q 0.999 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 7 32 82.05 41 0 0.00 GAPVD1 26130 genome.wustl.edu 37 9 128112573 128112573 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 128112573 128112573 G C SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known splice_site c.3381-1 e20-1 1.000 - - - no_errors GAPVD1 HGNC ENSG00000165219 13 9 40.91 20 0 0.00 GAPVD1 26130 genome.wustl.edu 37 9 128113141 128113141 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 128113141 128113141 G A SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.3640 p.E1214K 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 45 20 30.77 38 0 0.00 GAPVD1 26130 genome.wustl.edu 37 9 128122832 128122832 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 128122832 128122832 C T SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.4151 p.P1384L 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 30 13 30.23 39 0 0.00 GAR1 54433 genome.wustl.edu 37 4 110739145 110739145 + Missense_Mutation SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 110739145 110739145 A G SNP GAR1 ENST00000226796 human ensembl 70_37 +1 known missense c.268 p.T90A 1.000 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors GAR1 HGNC ENSG00000109534 31 16 34.04 69 0 0.00 GARNL3 84253 genome.wustl.edu 37 9 130117612 130117612 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130117612 130117612 G C SNP GARNL3 ENST00000373387 human ensembl 70_37 +1 known missense c.1796 p.R599T 0.951 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 25 21 45.65 78 0 0.00 GARS 2617 genome.wustl.edu 37 7 30671904 30671904 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 30671904 30671904 G A SNP GARS ENST00000389266 human ensembl 70_37 +1 known missense c.1945 p.D649N 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 21 9 30.00 39 0 0.00 GART 2618 genome.wustl.edu 37 21 34878376 34878376 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 21 34878376 34878376 C G SNP GART ENST00000381815 human ensembl 70_37 -1 known missense c.2488 p.E830Q 0.004 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 17 18 51.43 57 0 0.00 GART 2618 genome.wustl.edu 37 21 34882121 34882122 + Frame_Shift_Ins INS - - T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 34882121 34882122 - T INS GART ENST00000381815 human ensembl 70_37 -1 known frame_shift_ins c.2421_2420 p.A808fs 0.864:0.844 superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 39 5 11.36 44 0 0.00 GART 2618 genome.wustl.edu 37 21 34883749 34883749 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 34883749 34883749 C T SNP GART ENST00000381815 human ensembl 70_37 -1 known silent c.2124 p.R708 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 21 6 22.22 30 0 0.00 GART 2618 genome.wustl.edu 37 21 34892738 34892738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 34892738 34892738 G A SNP GART ENST00000381815 human ensembl 70_37 -1 known silent c.1635 p.L545 0.001 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 24 8 25.00 27 0 0.00 GAS2 2620 genome.wustl.edu 37 11 22759271 22759271 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 22759271 22759271 G C SNP GAS2 ENST00000278187 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 55 11 16.67 56 0 0.00 GAS2 2620 genome.wustl.edu 37 11 22770758 22770758 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 22770758 22770758 C T SNP GAS2 ENST00000278187 human ensembl 70_37 +1 known missense c.566 p.S189L 0.986 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 19 6 24.00 57 0 0.00 GAS2L1 10634 genome.wustl.edu 37 22 29704119 29704119 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 29704119 29704119 C T SNP GAS2L1 ENST00000403764 human ensembl 70_37 +1 known silent c.24 p.I8 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 18 5 21.74 26 0 0.00 GAS2L1 10634 genome.wustl.edu 37 22 29704119 29704119 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 29704119 29704119 C T SNP GAS2L1 ENST00000403764 human ensembl 70_37 +1 known silent c.24 p.I8 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 25 6 19.35 23 0 0.00 GAS2L2 246176 genome.wustl.edu 37 17 34072333 34072333 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 34072333 34072333 G C SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.2183 p.S728W 0.641 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 39 16 29.09 50 0 0.00 GAS2L2 246176 genome.wustl.edu 37 17 34072389 34072389 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 34072389 34072389 C G SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known silent c.2127 p.L709 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 32 7 17.95 62 0 0.00 GAS2L2 246176 genome.wustl.edu 37 17 34072551 34072551 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 34072551 34072551 G A SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known silent c.1965 p.I655 0.994 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 8 3 27.27 35 0 0.00 GAS2L2 246176 genome.wustl.edu 37 17 34073404 34073404 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 34073404 34073404 G C SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.1112 p.S371C 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 193 32 14.22 116 0 0.00 GAS2L2 246176 genome.wustl.edu 37 17 34074179 34074179 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 34074179 34074179 G A SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.941 p.S314L 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 40 18 31.03 40 0 0.00 GAS2L3 283431 genome.wustl.edu 37 12 100994246 100994246 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 100994246 100994246 C T SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known silent c.105 p.Y35 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 12 10 45.45 41 0 0.00 GAS2L3 283431 genome.wustl.edu 37 12 101012237 101012237 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 101012237 101012237 G A SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known missense c.520 p.E174K 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 91 17 15.74 66 0 0.00 GAS2L3 283431 genome.wustl.edu 37 12 101017746 101017746 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 101017746 101017746 C G SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known nonsense c.1163 p.S388* 0.026 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 28 9 24.32 34 0 0.00 GAS6 2621 genome.wustl.edu 37 13 114537555 114537555 + Missense_Mutation SNP A A T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 13 114537555 114537555 A T SNP GAS6 ENST00000357389 human ensembl 70_37 -1 known missense c.803 p.L268H 1.000 superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 16 27 62.79 40 0 0.00 GAS6 2621 genome.wustl.edu 37 13 114549541 114549541 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 114549541 114549541 G C SNP GAS6 ENST00000357389 human ensembl 70_37 -1 known missense c.302 p.S101C 0.144 superfamily_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 36 15 29.41 65 0 0.00 GAS6 2621 genome.wustl.edu 37 13 114549990 114549990 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 114549990 114549990 G A SNP GAS6 ENST00000355761 human ensembl 70_37 -1 known nonsense c.67 p.Q23* 0.002 NULL pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors GAS6 HGNC ENSG00000183087 34 13 27.08 34 0 0.00 GAS6 2621 genome.wustl.edu 37 13 114550997 114550997 + Splice_Site SNP A A T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 13 114550997 114550997 A T SNP GAS6 ENST00000357389 human ensembl 70_37 -1 known splice_site c.280+2 e3+2 1.000 - - - no_errors GAS6 HGNC ENSG00000183087 33 15 31.25 38 0 0.00 GAS7 8522 genome.wustl.edu 37 17 9850223 9850223 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 9850223 9850223 G A SNP GAS7 ENST00000432992 human ensembl 70_37 -1 known silent c.603 p.C201 0.111 pfscan_FCH pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP - no_errors GAS7 HGNC ENSG00000007237 27 15 35.71 40 0 0.00 GAS7 8522 genome.wustl.edu 37 17 9939844 9939844 + RNA SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 9939844 9939844 G A SNP GAS7 ENST00000578655 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS7 HGNC ENSG00000007237 14 7 33.33 27 0 0.00 GAST 2520 genome.wustl.edu 37 17 39871753 39871753 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 39871753 39871753 C G SNP GAST ENST00000329402 human ensembl 70_37 +1 known missense c.65 p.S22C 0.875 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors GAST HGNC ENSG00000184502 23 3 11.54 40 0 0.00 GAST 2520 genome.wustl.edu 37 17 39872094 39872094 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39872094 39872094 C T SNP GAST ENST00000329402 human ensembl 70_37 +1 known silent c.276 p.F92 0.474 pfam_Gastrin,smart_Gastrin pfam_Gastrin,smart_Gastrin - no_errors GAST HGNC ENSG00000184502 26 18 40.91 38 0 0.00 GATA1 2623 genome.wustl.edu 37 X 48649666 48649666 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48649666 48649666 G A SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known silent c.150 p.P50 0.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 33 21 38.89 71 0 0.00 GATA1 2623 genome.wustl.edu 37 X 48650370 48650370 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 48650370 48650370 G A SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known missense c.340 p.E114K 0.962 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 82 23 21.70 120 0 0.00 GATA1 2623 genome.wustl.edu 37 X 48652558 48652558 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 48652558 48652558 C T SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known missense c.1229 p.P410L 0.975 NULL pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 105 21 16.67 26 0 0.00 GATA2 2624 genome.wustl.edu 37 3 128199829 128199829 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 128199829 128199829 G A SNP GATA2 ENST00000489987 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors GATA2 HGNC ENSG00000179348 59 39 39.80 107 0 0.00 GATA2 2624 genome.wustl.edu 37 3 128199904 128199904 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 128199904 128199904 G A SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known silent c.1401 p.F467 0.992 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 41 10 19.61 36 0 0.00 GATA2 2624 genome.wustl.edu 37 3 128200129 128200129 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128200129 128200129 C T SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known silent c.1176 p.G392 0.901 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 44 13 22.81 23 0 0.00 GATA2 2624 genome.wustl.edu 37 3 128200907 128200907 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 128200907 128200907 G T SNP GATA2 ENST00000489987 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors GATA2 HGNC ENSG00000179348 14 3 17.65 26 0 0.00 GATA2 2624 genome.wustl.edu 37 3 128205845 128205845 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 128205845 128205845 C G SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known missense c.30 p.W10C 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 31 33 51.56 52 0 0.00 GATAD1 57798 genome.wustl.edu 37 7 92083840 92083840 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 92083840 92083840 G T SNP GATAD1 ENST00000287957 human ensembl 70_37 +1 known missense c.460 p.V154F 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD1 HGNC ENSG00000157259 27 3 10.00 31 0 0.00 GATAD2B 57459 genome.wustl.edu 37 1 153784602 153784602 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153784602 153784602 C G SNP GATAD2B ENST00000368655 human ensembl 70_37 -1 known missense c.1426 p.E476Q 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2B HGNC ENSG00000143614 205 53 20.54 199 0 0.00 GATC 283459 genome.wustl.edu 37 12 120894893 120894893 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 120894893 120894893 G C SNP GATC ENST00000551765 human ensembl 70_37 +1 known missense c.269 p.R90T 0.999 pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 47 14 22.95 90 0 0.00 GATC 283459 genome.wustl.edu 37 12 120894916 120894916 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 120894916 120894916 A G SNP GATC ENST00000551765 human ensembl 70_37 +1 known missense c.292 p.N98D 1.000 pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 30 21 41.18 69 0 0.00 GATM 2628 genome.wustl.edu 37 15 45656204 45656204 + Silent SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 45656204 45656204 G T SNP GATM ENST00000396659 human ensembl 70_37 -1 known silent c.1053 p.L351 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 20 4 16.67 39 0 0.00 GATS 352954 genome.wustl.edu 37 7 99799678 99799678 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99799678 99799678 C G SNP GATS ENST00000543273 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors GATS HGNC ENSG00000239521 34 13 27.66 26 0 0.00 GATS 352954 genome.wustl.edu 37 7 99821295 99821295 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 99821295 99821295 G C SNP GATS ENST00000436886 human ensembl 70_37 -1 known silent c.438 p.V146 1.000 NULL NULL - no_errors GATS Uniprot_genename ENSG00000160844 39 68 63.55 210 0 0.00 GATSL2 729438 genome.wustl.edu 37 7 74824208 74824208 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 74824208 74824208 G C SNP GATSL2 ENST00000426327 human ensembl 70_37 -1 known missense c.159 p.I53M 1.000 NULL NULL - no_errors GATSL2 HGNC ENSG00000198750 128 29 18.47 170 0 0.00 GATSL3 652968 genome.wustl.edu 37 22 30682031 30682031 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 22 30682031 30682031 C T SNP GATSL3 ENST00000407689 human ensembl 70_37 -1 known missense c.800 p.R267H 1.000 NULL NULL - no_errors GATSL3 HGNC ENSG00000239282 26 3 10.34 45 0 0.00 GATSL3 652968 genome.wustl.edu 37 22 30683473 30683473 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 30683473 30683473 C T SNP GATSL3 ENST00000407689 human ensembl 70_37 -1 known silent c.261 p.A87 0.000 NULL NULL - no_errors GATSL3 HGNC ENSG00000239282 44 16 26.67 64 0 0.00 GBA2 57704 genome.wustl.edu 37 9 35741458 35741459 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 35741458 35741459 - T INS GBA2 ENST00000485259 human ensembl 70_37 -1 known rna NULL NULL 0.119:0.125 - - - no_errors GBA2 HGNC ENSG00000070610 19 3 13.64 21 0 0.00 GBA2 57704 genome.wustl.edu 37 9 35748398 35748398 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 35748398 35748398 G C SNP GBA2 ENST00000545786 human ensembl 70_37 -1 known missense c.304 p.Q102E 0.999 pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 53 23 30.26 75 0 0.00 GBAP1 2630 genome.wustl.edu 37 1 155185426 155185426 + RNA SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 155185426 155185426 G C SNP GBAP1 ENST00000368374 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GBAP1 HGNC ENSG00000160766 88 26 22.81 89 0 0.00 GBAS 2631 genome.wustl.edu 37 7 56066732 56066732 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 56066732 56066732 C G SNP GBAS ENST00000322090 human ensembl 70_37 +1 known missense c.828 p.I276M 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC ENSG00000146729 38 21 35.59 85 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104018760 104018760 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104018760 104018760 G A SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.65 p.R22Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 7 7 50.00 26 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104019846 104019846 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104019846 104019846 C G SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.136 p.L46V 0.945 superfamily_ARM-type_fold pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 70 38 35.19 119 1 0.83 GBF1 8729 genome.wustl.edu 37 10 104122367 104122367 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104122367 104122367 G C SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.1819 p.E607Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 25 16 39.02 42 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104123068 104123068 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 104123068 104123068 C T SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known silent c.1929 p.G643 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 41 16 28.07 56 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104129049 104129049 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104129049 104129049 C T SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.3052 p.R1018C 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 39 17 30.36 83 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104139119 104139119 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 104139119 104139119 G C SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.4570 p.E1524Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 42 17 28.81 68 0 0.00 GBF1 8729 genome.wustl.edu 37 10 104139678 104139678 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 104139678 104139678 G A SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known silent c.4842 p.E1614 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 32 15 31.91 60 0 0.00 GBP1 2633 genome.wustl.edu 37 1 89520389 89520389 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 89520389 89520389 C G SNP GBP1 ENST00000370473 human ensembl 70_37 -1 known missense c.1641 p.E547D 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC ENSG00000117228 32 13 28.89 26 0 0.00 GBP1 2633 genome.wustl.edu 37 1 89520802 89520802 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 89520802 89520802 T C SNP GBP1 ENST00000370473 human ensembl 70_37 -1 known missense c.1465 p.I489V 0.989 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC ENSG00000117228 40 14 25.93 77 0 0.00 GBP1 2633 genome.wustl.edu 37 1 89521614 89521614 + RNA SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 89521614 89521614 C T SNP GBP1 ENST00000495131 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC ENSG00000117228 80 19 19.19 114 0 0.00 GBP1 2633 genome.wustl.edu 37 1 89524907 89524907 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 89524907 89524907 G T SNP GBP1 ENST00000493139 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC ENSG00000117228 37 24 39.34 82 0 0.00 GBP1P1 400759 genome.wustl.edu 37 1 89875908 89875908 + RNA SNP A A G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 89875908 89875908 A G SNP GBP1P1 ENST00000513638 human ensembl 70_37 +1 known rna NULL NULL 0.314 - - - no_errors GBP1P1 HGNC ENSG00000225492 53 49 47.57 82 0 0.00 GBP1P1 400759 genome.wustl.edu 37 1 89889986 89889986 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 89889986 89889986 G C SNP GBP1P1 ENST00000513638 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors GBP1P1 HGNC ENSG00000225492 59 16 21.33 63 0 0.00 GBP2 2634 genome.wustl.edu 37 1 89582883 89582883 + Silent SNP A A T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 89582883 89582883 A T SNP GBP2 ENST00000370466 human ensembl 70_37 -1 known silent c.660 p.P220 0.001 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC ENSG00000162645 22 14 38.89 45 0 0.00 GBP2 2634 genome.wustl.edu 37 1 89583317 89583317 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 89583317 89583317 C G SNP GBP2 ENST00000370466 human ensembl 70_37 -1 known missense c.568 p.D190H 0.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC ENSG00000162645 59 18 23.38 42 0 0.00 GBP3 2635 genome.wustl.edu 37 1 89476775 89476775 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 89476775 89476775 C T SNP GBP3 ENST00000370481 human ensembl 70_37 -1 known missense c.1174 p.D392N 0.004 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP3 HGNC ENSG00000117226 91 51 35.92 160 0 0.00 GBP3 2635 genome.wustl.edu 37 1 89477668 89477668 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 89477668 89477668 C T SNP GBP3 ENST00000370481 human ensembl 70_37 -1 known missense c.911 p.R304K 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP3 HGNC ENSG00000117226 33 31 48.44 55 0 0.00 GBP4 115361 genome.wustl.edu 37 1 89658773 89658773 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 89658773 89658773 C G SNP GBP4 ENST00000355754 human ensembl 70_37 -1 known missense c.484 p.E162Q 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 25 16 39.02 35 0 0.00 GBP4 115361 genome.wustl.edu 37 1 89659022 89659022 + Missense_Mutation SNP A A G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 89659022 89659022 A G SNP GBP4 ENST00000355754 human ensembl 70_37 -1 known missense c.437 p.V146A 0.164 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 34 31 47.69 62 0 0.00 GBP5 115362 genome.wustl.edu 37 1 89730576 89730576 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 89730576 89730576 G A SNP GBP5 ENST00000343435 human ensembl 70_37 -1 known silent c.942 p.V314 0.036 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC ENSG00000154451 80 15 15.62 85 0 0.00 GBP5 115362 genome.wustl.edu 37 1 89735176 89735176 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 89735176 89735176 C T SNP GBP5 ENST00000343435 human ensembl 70_37 -1 known silent c.63 p.L21 0.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC ENSG00000154451 79 46 36.80 145 0 0.00 GBP6 163351 genome.wustl.edu 37 1 89846126 89846126 + Frame_Shift_Del DEL T T - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 89846126 89846126 T - DEL GBP6 ENST00000370456 human ensembl 70_37 +1 known frame_shift_del c.807 p.S270fs 0.964 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 18 2 10.00 58 0 0.00 GBP7 388646 genome.wustl.edu 37 1 89618015 89618015 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 89618015 89618015 C G SNP GBP7 ENST00000294671 human ensembl 70_37 -1 known silent c.561 p.L187 0.995 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 27 22 44.90 45 0 0.00 GBP7 388646 genome.wustl.edu 37 1 89637576 89637576 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 89637576 89637576 C G SNP GBP7 ENST00000294671 human ensembl 70_37 -1 known missense c.43 p.E15Q 0.001 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 106 22 17.19 116 0 0.00 GBX2 2637 genome.wustl.edu 37 2 237074503 237074503 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237074503 237074503 C A SNP GBX2 ENST00000465889 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors GBX2 HGNC ENSG00000168505 18 15 45.45 32 0 0.00 GBX2 2637 genome.wustl.edu 37 2 237074513 237074513 + RNA SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 237074513 237074513 G T SNP GBX2 ENST00000465889 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors GBX2 HGNC ENSG00000168505 8 7 46.67 24 0 0.00 GBX2 2637 genome.wustl.edu 37 2 237074607 237074607 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237074607 237074607 T G SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known silent c.997 p.R333 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 27 10 27.03 33 0 0.00 GBX2 2637 genome.wustl.edu 37 2 237074658 237074658 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 237074658 237074658 C T SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known missense c.946 p.E316K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 22 29 56.86 55 0 0.00 GBX2 2637 genome.wustl.edu 37 2 237076492 237076492 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 237076492 237076492 G A SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known silent c.123 p.Y41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 6 7 53.85 22 0 0.00 GCAT 23464 genome.wustl.edu 37 22 38206067 38206067 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 38206067 38206067 G A SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.230 p.G77D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 94 35 27.13 158 0 0.00 GCAT 23464 genome.wustl.edu 37 22 38211201 38211201 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38211201 38211201 G T SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.645 p.Q215H 0.940 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 58 9 13.43 28 0 0.00 GCAT 23464 genome.wustl.edu 37 22 38211283 38211283 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38211283 38211283 G C SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.727 p.G243R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 74 12 13.95 32 0 0.00 GCC1 79571 genome.wustl.edu 37 7 127222266 127222266 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 127222266 127222266 G A SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known silent c.2130 p.I710 0.995 superfamily_ARM-type_fold pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 111 34 23.45 147 0 0.00 GCC1 79571 genome.wustl.edu 37 7 127222899 127222899 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 127222899 127222899 G T SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known silent c.1497 p.A499 0.989 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 45 5 10.00 55 0 0.00 GCC1 79571 genome.wustl.edu 37 7 127223154 127223154 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 127223154 127223154 G T SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known missense c.1242 p.S414R 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 20 3 13.04 38 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109067510 109067510 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 109067510 109067510 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known silent c.90 p.L30 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 67 29 30.21 88 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109086905 109086905 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 109086905 109086905 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.1120 p.D374H 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 9 3 25.00 50 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109087433 109087433 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109087433 109087433 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known nonsense c.1648 p.Q550* 0.030 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 10 16 61.54 21 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109088372 109088372 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109088372 109088372 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.2587 p.E863Q 0.986 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 13 18 58.06 20 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109098845 109098845 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 109098845 109098845 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.3283 p.A1095P 0.998 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 24 17 41.46 37 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109109062 109109062 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 109109062 109109062 G A SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.4263 p.M1421I 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 22 5 18.52 40 0 0.00 GCC2 9648 genome.wustl.edu 37 2 109109215 109109215 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 109109215 109109215 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known silent c.4416 p.L1472 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 21 8 27.59 25 0 0.00 GCDH 2639 genome.wustl.edu 37 19 13008169 13008169 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 13008169 13008169 G T SNP GCDH ENST00000222214 human ensembl 70_37 +1 known missense c.1009 p.A337S 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 73 13 15.12 103 0 0.00 GCDH 2639 genome.wustl.edu 37 19 13008605 13008605 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 13008605 13008605 G A SNP GCDH ENST00000222214 human ensembl 70_37 +1 known missense c.1171 p.G391R 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 28 45 60.81 88 0 0.00 PAXBP1 94104 genome.wustl.edu 37 21 34134460 34134460 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 34134460 34134460 A G SNP GCFC1 ENST00000331923 human ensembl 70_37 -1 known missense c.818 p.I273T 1.000 NULL pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 14 7 33.33 44 0 0.00 GCFC2 6936 genome.wustl.edu 37 2 75891851 75891851 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 75891851 75891851 C T SNP GCFC2 ENST00000321027 human ensembl 70_37 -1 known missense c.2287 p.E763K 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 59 19 24.36 61 0 0.00 GCG 2641 genome.wustl.edu 37 2 163000611 163000611 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 163000611 163000611 C G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.462 p.E154D 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 18 6 25.00 34 0 0.00 GCG 2641 genome.wustl.edu 37 2 163002156 163002156 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 163002156 163002156 C G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.286 p.E96Q 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 288 87 23.14 333 0 0.00 GCG 2641 genome.wustl.edu 37 2 163002166 163002166 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 2 163002166 163002166 G A SNP GCG ENST00000375497 human ensembl 70_37 -1 known silent c.276 p.H92 0.995 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 82 44 34.65 320 0 0.00 GCG 2641 genome.wustl.edu 37 2 163003930 163003930 + Missense_Mutation SNP T T G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 163003930 163003930 T G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.187 p.S63R 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 53 10 15.87 103 0 0.00 GCG 2641 genome.wustl.edu 37 2 163005610 163005610 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 163005610 163005610 C T SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 35 28 44.44 87 0 0.00 GCH1 2643 genome.wustl.edu 37 14 55313836 55313836 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 55313836 55313836 G T SNP GCH1 ENST00000395514 human ensembl 70_37 -1 known silent c.522 p.I174 1.000 pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 38 7 15.56 30 0 0.00 GCK 2645 genome.wustl.edu 37 7 44189446 44189446 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 44189446 44189446 C T SNP GCK ENST00000345378 human ensembl 70_37 -1 known missense c.595 p.D199N 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 34 4 10.53 50 0 0.00 GCK 2645 genome.wustl.edu 37 7 44190560 44190560 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44190560 44190560 C T SNP GCK ENST00000345378 human ensembl 70_37 -1 known missense c.481 p.D161N 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 36 26 41.94 64 0 0.00 GCKR 2646 genome.wustl.edu 37 2 27726397 27726397 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27726397 27726397 G C SNP GCKR ENST00000264717 human ensembl 70_37 +1 known missense c.661 p.D221H 1.000 NULL NULL - no_errors GCKR HGNC ENSG00000084734 15 14 48.28 42 0 0.00 GCKR 2646 genome.wustl.edu 37 2 27731095 27731095 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 27731095 27731095 G C SNP GCKR ENST00000264717 human ensembl 70_37 +1 known missense c.1399 p.E467Q 0.977 NULL NULL - no_errors GCKR HGNC ENSG00000084734 26 3 10.34 23 0 0.00 GCKR 2646 genome.wustl.edu 37 2 27746301 27746301 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27746301 27746301 C T SNP GCKR ENST00000264717 human ensembl 70_37 +1 known nonsense c.1873 p.Q625* 0.005 NULL NULL - no_errors GCKR HGNC ENSG00000084734 14 11 44.00 27 0 0.00 GCLM 2730 genome.wustl.edu 37 1 94367192 94367192 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 94367192 94367192 G A SNP GCLM ENST00000370238 human ensembl 70_37 -1 known missense c.226 p.H76Y 1.000 pfam_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 27 7 20.59 51 0 0.00 GCM1 8521 genome.wustl.edu 37 6 53010373 53010373 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 53010373 53010373 C T SNP GCM1 ENST00000259803 human ensembl 70_37 -1 known missense c.58 p.D20N 1.000 superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 30 22 42.31 72 0 0.00 GCM2 9247 genome.wustl.edu 37 6 10874955 10874955 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 10874955 10874955 C A SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.794 p.R265I 0.998 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 34 26 43.33 129 0 0.00 GCM2 9247 genome.wustl.edu 37 6 10874955 10874955 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 10874955 10874955 C T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.794 p.R265K 0.998 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 70 41 36.94 96 0 0.00 GCM2 9247 genome.wustl.edu 37 6 10876194 10876194 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 10876194 10876194 C T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.512 p.R171K 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 48 19 28.36 93 0 0.00 GCM2 9247 genome.wustl.edu 37 6 10876766 10876766 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 10876766 10876766 G T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.368 p.S123Y 0.993 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 29 16 35.56 97 0 0.00 GCN1L1 10985 genome.wustl.edu 37 12 120585024 120585024 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 120585024 120585024 C G SNP GCN1L1 ENST00000300648 human ensembl 70_37 -1 known missense c.4779 p.Q1593H 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 27 10 27.03 56 0 0.00 GCN1L1 10985 genome.wustl.edu 37 12 120600928 120600928 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 120600928 120600928 C T SNP GCN1L1 ENST00000300648 human ensembl 70_37 -1 known missense c.1984 p.D662N 0.695 pfam_DUF3554,superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 10 8 44.44 22 0 0.00 GCNT2 2651 genome.wustl.edu 37 6 10529685 10529685 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 10529685 10529685 G A SNP GCNT2 ENST00000379597 human ensembl 70_37 +1 known missense c.541 p.E181K 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 14 6 28.57 15 0 0.00 GCNT2 2651 genome.wustl.edu 37 6 10556959 10556959 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 10556959 10556959 C G SNP GCNT2 ENST00000316170 human ensembl 70_37 +1 known missense c.303 p.I101M 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 31 14 30.43 52 0 0.00 GCNT2 2651 genome.wustl.edu 37 6 10557320 10557320 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 10557320 10557320 C T SNP GCNT2 ENST00000316170 human ensembl 70_37 +1 known missense c.664 p.H222Y 0.999 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 28 12 30.00 35 0 0.00 GCNT2 2651 genome.wustl.edu 37 6 10621627 10621627 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 10621627 10621627 C T SNP GCNT2 ENST00000265012 human ensembl 70_37 +1 known silent c.969 p.L323 0.871 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 36 4 10.00 31 0 0.00 GCNT3 9245 genome.wustl.edu 37 15 59910896 59910896 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 59910896 59910896 G C SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known silent c.459 p.V153 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 19 10 34.48 27 0 0.00 GCNT3 9245 genome.wustl.edu 37 15 59911513 59911513 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 59911513 59911513 C G SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known missense c.1076 p.S359C 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 97 31 24.22 164 0 0.00 GCNT3 9245 genome.wustl.edu 37 15 59911592 59911592 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 59911592 59911592 C T SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known silent c.1155 p.I385 0.962 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 20 8 28.57 35 0 0.00 GCNT4 51301 genome.wustl.edu 37 5 74324664 74324664 + Nonsense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 74324664 74324664 C T SNP GCNT4 ENST00000322348 human ensembl 70_37 -1 known nonsense c.1199 p.W400* 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 58 8 12.12 56 0 0.00 GCNT6 644378 genome.wustl.edu 37 6 10634789 10634789 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 10634789 10634789 C G SNP GCNT6 ENST00000417671 human ensembl 70_37 +1 known nonsense c.797 p.S266* 0.003 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT6 HGNC ENSG00000205318 14 10 41.67 13 0 0.00 GCNT7 140687 genome.wustl.edu 37 20 55072244 55072244 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 55072244 55072244 G T SNP GCNT7 ENST00000243913 human ensembl 70_37 -1 putative missense c.55 p.H19N 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT7 HGNC ENSG00000124091 16 4 20.00 19 0 0.00 GCOM1 145781 genome.wustl.edu 37 15 57921908 57921908 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 57921908 57921908 C T SNP GCOM1 ENST00000380569 human ensembl 70_37 +1 known silent c.534 p.L178 0.450 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 48 7 12.73 67 0 0.00 GCSAM 257144 genome.wustl.edu 37 3 111845843 111845843 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 111845843 111845843 G A SNP GCSAM ENST00000308910 human ensembl 70_37 -1 known nonsense c.181 p.Q61* 0.001 NULL NULL - no_errors GCSAM HGNC ENSG00000174500 54 15 21.74 48 0 0.00 GCSAML 148823 genome.wustl.edu 37 1 247690334 247690334 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 247690334 247690334 C T SNP GCSAML ENST00000366490 human ensembl 70_37 +1 known missense c.77 p.S26L 0.002 NULL NULL - no_errors GCSAML HGNC ENSG00000169224 80 46 36.51 87 0 0.00 GCSAML-AS1 148824 genome.wustl.edu 37 1 247688952 247688952 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 247688952 247688952 C A SNP GCSAML-AS1 ENST00000420469 human ensembl 70_37 -1 known rna NULL NULL 0.269 - - - no_errors GCSAML-AS1 HGNC ENSG00000227135 67 13 16.25 44 0 0.00 GCSHP3 100329109 genome.wustl.edu 37 2 206980714 206980715 + RNA INS - - T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 206980714 206980715 - T INS GCSHP3 ENST00000453039 human ensembl 70_37 +1 known rna NULL NULL 0.025:0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 36 5 12.20 32 0 0.00 GCSHP3 100329109 genome.wustl.edu 37 2 206980726 206980726 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 206980726 206980726 C T SNP GCSHP3 ENST00000453039 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 35 26 42.62 45 0 0.00 GDA 9615 genome.wustl.edu 37 9 74810440 74810440 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 74810440 74810440 C G SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.148 p.Q50E 1.000 tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 27 7 20.59 32 0 0.00 GDA 9615 genome.wustl.edu 37 9 74817635 74817635 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 74817635 74817635 G A SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.361 p.E121K 0.997 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 79 38 32.48 117 0 0.00 GDA 9615 genome.wustl.edu 37 9 74828903 74828903 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 74828903 74828903 G A SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.574 p.E192K 0.600 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 52 12 18.75 79 0 0.00 GDA 9615 genome.wustl.edu 37 9 74834422 74834422 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 74834422 74834422 C T SNP GDA ENST00000238018 human ensembl 70_37 +1 known silent c.606 p.N202 0.161 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 29 6 17.14 67 0 0.00 GDAP1L1 78997 genome.wustl.edu 37 20 42907817 42907817 + Silent SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 42907817 42907817 C A SNP GDAP1L1 ENST00000342560 human ensembl 70_37 +1 known silent c.981 p.I327 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 33 7 17.50 17 0 0.00 GDAP1L1 78997 genome.wustl.edu 37 20 42907862 42907862 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 42907862 42907862 C T SNP GDAP1L1 ENST00000342560 human ensembl 70_37 +1 known silent c.1026 p.F342 0.975 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 32 11 25.58 15 0 0.00 GDAP1L1 78997 genome.wustl.edu 37 20 42907877 42907877 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 42907877 42907877 C G SNP GDAP1L1 ENST00000342560 human ensembl 70_37 +1 known silent c.1041 p.L347 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 32 11 25.58 25 0 0.00 GDAP2 54834 genome.wustl.edu 37 1 118461268 118461268 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 118461268 118461268 G A SNP GDAP2 ENST00000369443 human ensembl 70_37 -1 known silent c.267 p.I89 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,superfamily_CRAL-TRIO_dom,smart_A1pp,smart_CRAL-TRIO_dom,pfscan_A1pp - no_errors GDAP2 HGNC ENSG00000196505 42 10 19.23 19 0 0.00 GDAP2 54834 genome.wustl.edu 37 1 118463026 118463026 + RNA SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 118463026 118463026 C G SNP GDAP2 ENST00000494224 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors GDAP2 HGNC ENSG00000196505 25 11 30.56 22 0 0.00 GDF10 2662 genome.wustl.edu 37 10 48438679 48438679 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 48438679 48438679 C G SNP GDF10 ENST00000224605 human ensembl 70_37 -1 known missense c.32 p.G11A 0.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 11 4 26.67 10 0 0.00 GDF11 10220 genome.wustl.edu 37 12 56137352 56137352 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56137352 56137352 G C SNP GDF11 ENST00000257868 human ensembl 70_37 +1 known missense c.252 p.L84F 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 11 14 56.00 14 0 0.00 GDF2 2658 genome.wustl.edu 37 10 48414295 48414295 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 48414295 48414295 G A SNP GDF2 ENST00000249598 human ensembl 70_37 -1 known silent c.573 p.F191 0.964 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 27 18 40.00 55 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34021779 34021779 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34021779 34021779 G A SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known silent c.1434 p.F478 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 45 21 31.82 56 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34022041 34022041 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34022041 34022041 C T SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.1172 p.R391Q 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 205 70 25.45 306 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34022198 34022198 + Missense_Mutation SNP T T G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 34022198 34022198 T G SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.1015 p.K339Q 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 47 10 17.24 39 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34022199 34022199 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 34022199 34022199 C A SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.1014 p.E338D 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 47 10 17.54 41 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34022246 34022246 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 34022246 34022246 C T SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.967 p.D323N 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 16 9 36.00 48 0 0.00 GDF5 8200 genome.wustl.edu 37 20 34025308 34025308 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 34025308 34025308 G A SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.401 p.P134L 0.267 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 25 3 10.71 41 0 0.00 GDF5OS 554250 genome.wustl.edu 37 20 34022687 34022687 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 34022687 34022687 C G SNP GDF5OS ENST00000374375 human ensembl 70_37 +1 known missense c.731 p.S244C 0.961 NULL NULL - no_errors GDF5OS HGNC ENSG00000204183 22 5 18.52 22 0 0.00 GDF6 392255 genome.wustl.edu 37 8 97156955 97156955 + Missense_Mutation SNP T T G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 97156955 97156955 T G SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known missense c.1204 p.I402L 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 34 13 27.66 67 0 0.00 GDF6 392255 genome.wustl.edu 37 8 97157727 97157727 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 97157727 97157727 C A SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known silent c.432 p.R144 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 32 17 34.69 48 0 0.00 GDF6 392255 genome.wustl.edu 37 8 97172815 97172815 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 97172815 97172815 C T SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known missense c.106 p.E36K 0.855 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 26 27 50.94 46 0 0.00 GDF7 151449 genome.wustl.edu 37 2 20870986 20870986 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 20870986 20870986 C A SNP GDF7 ENST00000272224 human ensembl 70_37 +1 known missense c.1154 p.P385H 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 65 27 29.03 37 0 0.00 GDF7 151449 genome.wustl.edu 37 2 20871110 20871110 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 20871110 20871110 C G SNP GDF7 ENST00000272224 human ensembl 70_37 +1 known silent c.1278 p.L426 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 28 17 37.78 47 0 0.00 GDF9 2661 genome.wustl.edu 37 5 132197395 132197395 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 132197395 132197395 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known silent c.1251 p.P417 0.161 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 105 24 18.60 131 0 0.00 GDF9 2661 genome.wustl.edu 37 5 132200003 132200003 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 132200003 132200003 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known missense c.223 p.G75R 0.014 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 39 18 31.58 40 0 0.00 GDF9 2661 genome.wustl.edu 37 5 132200008 132200008 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132200008 132200008 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known missense c.218 p.R73Q 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 31 13 29.55 40 0 0.00 GDI1 2664 genome.wustl.edu 37 X 153670074 153670074 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 153670074 153670074 C G SNP GDI1 ENST00000447750 human ensembl 70_37 +1 known missense c.924 p.I308M 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 198 55 21.74 283 0 0.00 GDI1 2664 genome.wustl.edu 37 X 153670141 153670141 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 153670141 153670141 G T SNP GDI1 ENST00000447750 human ensembl 70_37 +1 known missense c.991 p.D331Y 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 102 76 42.70 28 0 0.00 GDI1 2664 genome.wustl.edu 37 X 153670149 153670149 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153670149 153670149 G T SNP GDI1 ENST00000465640 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GDI1 HGNC ENSG00000203879 45 37 45.12 75 0 0.00 GDPD1 284161 genome.wustl.edu 37 17 57322867 57322867 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 57322867 57322867 G A SNP GDPD1 ENST00000284116 human ensembl 70_37 +1 known missense c.278 p.R93K 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 40 20 33.33 35 0 0.00 GDPD2 54857 genome.wustl.edu 37 X 69649620 69649620 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69649620 69649620 A C SNP GDPD2 ENST00000472623 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors GDPD2 HGNC ENSG00000130055 20 10 33.33 50 0 0.00 GDPD2 54857 genome.wustl.edu 37 X 69652906 69652906 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 69652906 69652906 G A SNP GDPD2 ENST00000453994 human ensembl 70_37 +1 known silent c.1743 p.L581 0.999 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 23 5 17.86 39 0 0.00 GDPD4 220032 genome.wustl.edu 37 11 76928352 76928352 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 76928352 76928352 C T SNP GDPD4 ENST00000376217 human ensembl 70_37 -1 known silent c.1533 p.Q511 0.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 12 8 40.00 51 0 0.00 GDPD4 220032 genome.wustl.edu 37 11 76956345 76956345 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 76956345 76956345 G C SNP GDPD4 ENST00000376217 human ensembl 70_37 -1 known missense c.1067 p.S356C 0.381 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 68 48 41.03 99 0 0.00 GDPD5 81544 genome.wustl.edu 37 11 75152240 75152240 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 75152240 75152240 G T SNP GDPD5 ENST00000336898 human ensembl 70_37 -1 known missense c.1441 p.L481M 0.991 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 34 4 10.53 60 0 0.00 GDPD5 81544 genome.wustl.edu 37 11 75154077 75154077 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 75154077 75154077 G C SNP GDPD5 ENST00000527322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GDPD5 HGNC ENSG00000158555 16 15 48.39 28 0 0.00 GEM 2669 genome.wustl.edu 37 8 95272461 95272461 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 95272461 95272461 G C SNP GEM ENST00000297596 human ensembl 70_37 -1 known missense c.271 p.L91V 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 49 19 27.94 41 0 0.00 GEMIN4 50628 genome.wustl.edu 37 17 648202 648202 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 648202 648202 C G SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.3081 p.Q1027H 1.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 31 14 31.11 48 0 0.00 GEMIN4 50628 genome.wustl.edu 37 17 648334 648334 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 648334 648334 G C SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.2949 p.F983L 1.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 21 6 22.22 38 0 0.00 GEMIN4 50628 genome.wustl.edu 37 17 648334 648334 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 648334 648334 G A SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known silent c.2949 p.F983 1.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 5 5 50.00 20 0 0.00 GEMIN4 50628 genome.wustl.edu 37 17 649191 649191 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 649191 649191 G T SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.2092 p.L698I 0.915 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 11 3 21.43 26 0 0.00 GEMIN4 50628 genome.wustl.edu 37 17 650523 650523 + Splice_Site SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 650523 650523 C T SNP GEMIN4 ENST00000437269 human ensembl 70_37 -1 putative splice_site c.499-1 e3-1 0.181 - - - no_errors GEMIN4 HGNC ENSG00000179409 31 9 22.50 55 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154272068 154272068 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 154272068 154272068 C T SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.3639 p.L1213 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 32 14 30.43 38 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154272083 154272083 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 154272083 154272083 C T SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.3624 p.L1208 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 9 6 40.00 31 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154278076 154278076 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 154278076 154278076 C G SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.3269 p.R1090T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 28 5 15.15 52 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154280963 154280963 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 154280963 154280963 G A SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.2950 p.H984Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 12 7 36.84 20 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154280965 154280965 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 154280965 154280965 G C SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.2948 p.S983C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 26 37 58.73 56 0 0.00 GEMIN5 25929 genome.wustl.edu 37 5 154317604 154317604 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 154317604 154317604 G A SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.90 p.F30 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 47 31 39.74 43 0 0.00 GEMIN6 79833 genome.wustl.edu 37 2 39008896 39008896 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 39008896 39008896 C T SNP GEMIN6 ENST00000281950 human ensembl 70_37 +1 known silent c.366 p.D122 0.000 pfam_Gemin6 pfam_Gemin6 - no_errors GEMIN6 HGNC ENSG00000152147 26 7 21.21 39 0 0.00 GEMIN7 79760 genome.wustl.edu 37 19 45593642 45593642 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 45593642 45593642 C T SNP GEMIN7 ENST00000270257 human ensembl 70_37 +1 known silent c.270 p.A90 1.000 pfam_SMN_gemin7 pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 135 19 12.34 38 0 0.00 GEMIN8 54960 genome.wustl.edu 37 X 14027161 14027161 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 14027161 14027161 C T SNP GEMIN8 ENST00000380523 human ensembl 70_37 -1 known silent c.600 p.E200 1.000 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 80 25 23.81 116 0 0.00 GEN1 348654 genome.wustl.edu 37 2 17941369 17941369 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 17941369 17941369 C T SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known silent c.159 p.L53 0.997 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC ENSG00000178295 66 29 30.53 87 0 0.00 GEN1 348654 genome.wustl.edu 37 2 17962884 17962884 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 17962884 17962884 C G SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known missense c.2405 p.S802C 1.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC ENSG00000178295 16 5 23.81 14 0 0.00 GEN1 348654 genome.wustl.edu 37 2 17962965 17962965 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 17962965 17962965 C T SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known missense c.2486 p.S829L 0.001 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC ENSG00000178295 10 22 68.75 22 0 0.00 GET4 51608 genome.wustl.edu 37 7 933395 933395 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 933395 933395 C T SNP GET4 ENST00000265857 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 44 20 31.25 30 0 0.00 GFI1B 8328 genome.wustl.edu 37 9 135862686 135862686 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 135862686 135862686 C G SNP GFI1B ENST00000339463 human ensembl 70_37 +1 known missense c.118 p.P40A 0.018 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 45 19 29.69 52 0 0.00 GFI1B 8328 genome.wustl.edu 37 9 135865272 135865272 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 135865272 135865272 G A SNP GFI1B ENST00000339463 human ensembl 70_37 +1 known silent c.792 p.K264 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 33 20 37.74 58 0 0.00 GFM1 85476 genome.wustl.edu 37 3 158399891 158399891 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 158399891 158399891 C T SNP GFM1 ENST00000486715 human ensembl 70_37 +1 known missense c.1709 p.S570L 0.090 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 17 10 37.04 16 0 0.00 GFM2 84340 genome.wustl.edu 37 5 74017486 74017486 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 74017486 74017486 C G SNP GFM2 ENST00000296805 human ensembl 70_37 -1 known missense c.2334 p.L778F 0.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 23 8 25.81 47 0 0.00 GFOD1 54438 genome.wustl.edu 37 6 13365254 13365254 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 13365254 13365254 G T SNP GFOD1 ENST00000379287 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 55 15 21.43 96 0 0.00 GFOD2 81577 genome.wustl.edu 37 16 67719417 67719417 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 67719417 67719417 G C SNP GFOD2 ENST00000268797 human ensembl 70_37 -1 known missense c.202 p.L68V 1.000 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 52 23 30.67 73 0 0.00 GFPT1 2673 genome.wustl.edu 37 2 69554097 69554097 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 69554097 69554097 C T SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known silent c.2004 p.V668 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 75 24 24.24 74 0 0.00 GFPT1 2673 genome.wustl.edu 37 2 69565691 69565691 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 69565691 69565691 G C SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1210 p.Q404E 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 41 24 36.92 40 0 0.00 GFPT1 2673 genome.wustl.edu 37 2 69569334 69569334 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 69569334 69569334 G A SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1153 p.R385W 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 34 11 24.44 36 0 0.00 GFPT1 2673 genome.wustl.edu 37 2 69573041 69573041 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 69573041 69573041 T G SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1100 p.Y367S 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 10 6 37.50 34 0 0.00 GFPT1 2673 genome.wustl.edu 37 2 69575310 69575310 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 69575310 69575310 G A SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known silent c.1002 p.I334 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 51 17 25.00 62 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179731829 179731829 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 179731829 179731829 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1785 p.M595I 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 222 31 12.25 240 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179743390 179743390 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 179743390 179743390 C G SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1224 p.R408S 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 37 11 22.92 37 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179743416 179743416 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 179743416 179743416 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1198 p.E400K 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 40 12 23.08 38 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179744046 179744046 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 179744046 179744046 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.971 p.A324V 0.989 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 31 8 20.51 49 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179745956 179745956 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 179745956 179745956 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known silent c.795 p.S265 0.254 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 15 6 28.57 17 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179751886 179751886 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 179751886 179751886 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known silent c.606 p.S202 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 22 20 47.62 45 0 0.00 GFPT2 9945 genome.wustl.edu 37 5 179757762 179757762 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 179757762 179757762 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.472 p.D158N 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 49 35 41.67 89 0 0.00 GFRA1 2674 genome.wustl.edu 37 10 117823975 117823975 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 117823975 117823975 C G SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known silent c.1332 p.L444 0.996 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 40 32 44.44 111 0 0.00 GFRA1 2674 genome.wustl.edu 37 10 117824046 117824046 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 117824046 117824046 C - DEL GFRA1 ENST00000439649 human ensembl 70_37 -1 known frame_shift_del c.1261 p.E421fs 0.987 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 40 22 35.48 61 0 0.00 GFRA1 2674 genome.wustl.edu 37 10 117884787 117884787 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 117884787 117884787 C T SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 49 20 28.99 59 0 0.00 GFRA1 2674 genome.wustl.edu 37 10 118031536 118031536 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 118031536 118031536 G C SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known missense c.6 p.F2L 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 5 7 58.33 13 0 0.00 GFRA2 2675 genome.wustl.edu 37 8 21563461 21563461 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 21563461 21563461 G C SNP GFRA2 ENST00000517328 human ensembl 70_37 -1 known missense c.887 p.S296C 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 41 12 22.64 56 0 0.00 GFRA2 2675 genome.wustl.edu 37 8 21608368 21608368 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 21608368 21608368 T C SNP GFRA2 ENST00000517328 human ensembl 70_37 -1 known missense c.526 p.K176E 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 7 5 41.67 18 0 0.00 GFRA3 2676 genome.wustl.edu 37 5 137589024 137589024 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 5 137589024 137589024 G C SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known silent c.1065 p.L355 0.807 prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 9 5 35.71 21 0 0.00 GFRA3 2676 genome.wustl.edu 37 5 137589844 137589844 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 5 137589844 137589844 C T SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known missense c.791 p.R264H 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 19 12 38.71 42 0 0.00 GFRA3 2676 genome.wustl.edu 37 5 137593424 137593424 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 5 137593424 137593424 C T SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known missense c.689 p.R230H 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 22 8 26.67 34 0 0.00 GFRA3 2676 genome.wustl.edu 37 5 137599970 137599970 + Missense_Mutation SNP A A G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 137599970 137599970 A G SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known missense c.359 p.V120A 0.825 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 60 26 30.23 23 0 0.00 GFRA3 2676 genome.wustl.edu 37 5 137600194 137600194 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 137600194 137600194 G C SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known silent c.135 p.L45 0.996 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 59 20 25.32 76 0 0.00 GGA1 26088 genome.wustl.edu 37 22 38019460 38019460 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 38019460 38019460 G T SNP GGA1 ENST00000343632 human ensembl 70_37 +1 known nonsense c.736 p.E246* 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 16 12 42.86 21 0 0.00 GGA1 26088 genome.wustl.edu 37 22 38021921 38021921 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38021921 38021921 C T SNP GGA1 ENST00000343632 human ensembl 70_37 +1 known missense c.1058 p.S353L 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 31 10 24.39 60 0 0.00 GGA2 23062 genome.wustl.edu 37 16 23478641 23478641 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 23478641 23478641 G A SNP GGA2 ENST00000566685 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors GGA2 HGNC ENSG00000103365 13 6 31.58 21 0 0.00 GGA2 23062 genome.wustl.edu 37 16 23478655 23478655 + RNA SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 23478655 23478655 C A SNP GGA2 ENST00000566685 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors GGA2 HGNC ENSG00000103365 13 5 27.78 16 0 0.00 GGA2 23062 genome.wustl.edu 37 16 23486311 23486311 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 23486311 23486311 C G SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known missense c.1364 p.W455S 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 48 33 40.74 95 0 0.00 GGA2 23062 genome.wustl.edu 37 16 23498096 23498096 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 23498096 23498096 G C SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known missense c.595 p.L199V 1.000 pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 34 26 43.33 44 0 0.00 GGA3 23163 genome.wustl.edu 37 17 73236104 73236104 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 73236104 73236104 G T SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known nonsense c.1349 p.S450* 0.025 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 10 13 56.52 22 0 0.00 GGA3 23163 genome.wustl.edu 37 17 73236973 73236973 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73236973 73236973 G C SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.1112 p.S371C 0.453 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 32 17 34.69 45 0 0.00 GGA3 23163 genome.wustl.edu 37 17 73237521 73237521 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 73237521 73237521 G C SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.906 p.I302M 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 84 44 34.38 92 0 0.00 GGA3 23163 genome.wustl.edu 37 17 73239158 73239158 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 73239158 73239158 C T SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.514 p.E172K 1.000 pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 54 8 12.90 60 0 0.00 GGACT 87769 genome.wustl.edu 37 13 101184552 101184552 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 101184552 101184552 C T SNP GGACT ENST00000376250 human ensembl 70_37 -1 known silent c.294 p.L98 0.010 pfam_AIG2-like pfam_AIG2-like - no_errors GGACT HGNC ENSG00000134864 2 17 89.47 31 0 0.00 GGACT 87769 genome.wustl.edu 37 13 101184684 101184684 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 101184684 101184684 C T SNP GGACT ENST00000376250 human ensembl 70_37 -1 known silent c.162 p.L54 0.837 pfam_AIG2-like pfam_AIG2-like - no_errors GGACT HGNC ENSG00000134864 2 3 60.00 11 0 0.00 GGCX 2677 genome.wustl.edu 37 2 85777676 85777676 + Splice_Site SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85777676 85777676 A G SNP GGCX ENST00000233838 human ensembl 70_37 -1 known splice_site c.2084+2 e14+2 0.997 - - - no_errors GGCX HGNC ENSG00000115486 19 15 44.12 34 0 0.00 GGCX 2677 genome.wustl.edu 37 2 85777799 85777799 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85777799 85777799 G C SNP GGCX ENST00000233838 human ensembl 70_37 -1 known missense c.1963 p.L655V 1.000 NULL pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 27 7 20.59 22 0 0.00 GGCX 2677 genome.wustl.edu 37 2 85781368 85781368 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 85781368 85781368 C G SNP GGCX ENST00000233838 human ensembl 70_37 -1 known missense c.787 p.D263H 1.000 pfam_VKG_COase,smart_HTTM pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 27 13 32.50 54 0 0.00 GGH 8836 genome.wustl.edu 37 8 63927960 63927960 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 63927960 63927960 C T SNP GGH ENST00000260118 human ensembl 70_37 -1 known silent c.888 p.L296 0.999 NULL pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC ENSG00000137563 25 13 34.21 28 0 0.00 GGH 8836 genome.wustl.edu 37 8 63939811 63939811 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 63939811 63939811 C T SNP GGH ENST00000260118 human ensembl 70_37 -1 known missense c.289 p.G97R 1.000 pfam_Peptidase_C26,pfam_GATASE_1 pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC ENSG00000137563 55 10 15.38 161 0 0.00 GGH 8836 genome.wustl.edu 37 8 63948246 63948246 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 63948246 63948246 C G SNP GGH ENST00000260118 human ensembl 70_37 -1 known missense c.193 p.E65Q 1.000 pfam_Peptidase_C26,pfam_GATASE_1 pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC ENSG00000137563 142 29 16.96 158 0 0.00 GGN 199720 genome.wustl.edu 37 19 38875118 38875118 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 38875118 38875118 G C SNP GGN ENST00000334928 human ensembl 70_37 -1 known missense c.1893 p.I631M 1.000 NULL NULL - no_errors GGN HGNC ENSG00000179168 65 13 16.67 60 0 0.00 GGN 199720 genome.wustl.edu 37 19 38876431 38876431 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38876431 38876431 C T SNP GGN ENST00000334928 human ensembl 70_37 -1 known missense c.1471 p.D491N 0.002 NULL NULL - no_errors GGN HGNC ENSG00000179168 5 5 50.00 10 0 0.00 GGNBP1 449520 genome.wustl.edu 37 6 33554459 33554459 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 33554459 33554459 C T SNP GGNBP1 ENST00000374458 human ensembl 70_37 +1 known missense c.110 p.S37L 0.048 NULL NULL - no_errors GGNBP1 HGNC ENSG00000204188 70 43 38.05 68 0 0.00 GGNBP1 449520 genome.wustl.edu 37 6 33554563 33554563 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33554563 33554563 G T SNP GGNBP1 ENST00000374458 human ensembl 70_37 +1 known nonsense c.214 p.E72* 0.987 NULL NULL - no_errors GGNBP1 HGNC ENSG00000204188 25 24 48.98 51 0 0.00 GGNBP2 79893 genome.wustl.edu 37 17 34923557 34923557 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 34923557 34923557 G C SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.583 p.V195L 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 64 49 42.98 116 0 0.00 GGNBP2 79893 genome.wustl.edu 37 17 34934549 34934549 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 34934549 34934549 C T SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.778 p.H260Y 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 36 25 40.98 47 0 0.00 GGNBP2 79893 genome.wustl.edu 37 17 34935768 34935768 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 34935768 34935768 C G SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.939 p.I313M 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 50 18 26.47 53 0 0.00 GGT1 2678 genome.wustl.edu 37 22 25007114 25007114 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25007114 25007114 C T SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.66 p.L22 0.171 NULL pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 8 3 27.27 18 0 0.00 GGT1 2678 genome.wustl.edu 37 22 25023584 25023584 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 25023584 25023584 C G SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.1206 p.L402 0.998 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 29 42 59.15 51 0 0.00 GGT1 2678 genome.wustl.edu 37 22 25024698 25024698 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 25024698 25024698 C T SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.1602 p.T534 0.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 56 30 34.88 73 0 0.00 GGT2 728441 genome.wustl.edu 37 22 21568105 21568105 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 22 21568105 21568105 C T SNP GGT2 ENST00000401924 human ensembl 70_37 -1 known silent c.792 p.P264 0.777 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT2 HGNC ENSG00000133475 9 4 30.77 13 0 0.00 GGT3P 2679 genome.wustl.edu 37 22 18778604 18778604 + RNA SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 22 18778604 18778604 G A SNP GGT3P ENST00000412448 human ensembl 70_37 -1 known rna NULL NULL 0.334 - - - no_errors GGT3P HGNC ENSG00000197421 23 4 14.81 15 0 0.00 GGT3P 2679 genome.wustl.edu 37 22 18830883 18830883 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 18830883 18830883 G A SNP GGT3P ENST00000445651 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors GGT3P HGNC ENSG00000197421 8 9 52.94 8 0 0.00 GGT5 2687 genome.wustl.edu 37 22 24621550 24621550 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 24621550 24621550 G A SNP GGT5 ENST00000398292 human ensembl 70_37 -1 known nonsense c.1300 p.R434* 0.934 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 57 23 28.75 116 0 0.00 GGT7 2686 genome.wustl.edu 37 20 33437774 33437774 + Silent SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 20 33437774 33437774 C A SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel silent c.1815 p.L605 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 68 16 19.05 71 0 0.00 GGT7 2686 genome.wustl.edu 37 20 33440300 33440300 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 33440300 33440300 G A SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel missense c.1361 p.S454F 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 52 12 18.75 40 0 0.00 GGT7 2686 genome.wustl.edu 37 20 33448099 33448099 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 33448099 33448099 C T SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel missense c.701 p.G234E 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 11 7 38.89 24 0 0.00 GGT7 2686 genome.wustl.edu 37 20 33460525 33460525 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 33460525 33460525 C T SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel missense c.94 p.E32K 1.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 18 19 51.35 25 0 0.00 GGTA1P 2681 genome.wustl.edu 37 9 124241356 124241356 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 124241356 124241356 G A SNP GGTA1P ENST00000373793 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors GGTA1P HGNC ENSG00000204136 25 5 16.67 41 0 0.00 GGTA1P 2681 genome.wustl.edu 37 9 124241583 124241583 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 124241583 124241583 C G SNP GGTA1P ENST00000373793 human ensembl 70_37 -1 known rna NULL NULL 0.190 - - - no_errors GGTA1P HGNC ENSG00000204136 14 6 30.00 25 0 0.00 GGTLC2 91227 genome.wustl.edu 37 22 22988825 22988825 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22988825 22988825 G A SNP GGTLC2 ENST00000448514 human ensembl 70_37 +1 known missense c.10 p.E4K 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 67 9 11.84 58 0 0.00 GGTLC2 91227 genome.wustl.edu 37 22 22988948 22988948 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22988948 22988948 G C SNP GGTLC2 ENST00000448514 human ensembl 70_37 +1 known missense c.133 p.E45Q 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 76 37 32.46 109 0 0.00 GH2 2689 genome.wustl.edu 37 17 61958007 61958007 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 61958007 61958007 G A SNP GH2 ENST00000332800 human ensembl 70_37 -1 known missense c.581 p.S194L 0.001 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 54 37 40.66 120 0 0.00 GHDC 84514 genome.wustl.edu 37 17 40342259 40342259 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 40342259 40342259 C T SNP GHDC ENST00000301671 human ensembl 70_37 -1 known missense c.1318 p.E440K 1.000 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 167 33 16.50 237 0 0.00 GHDC 84514 genome.wustl.edu 37 17 40342363 40342363 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40342363 40342363 C G SNP GHDC ENST00000436923 human ensembl 70_37 -1 known missense c.1303 p.D435H 0.000 NULL pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 34 15 30.61 34 0 0.00 GHDC 84514 genome.wustl.edu 37 17 40342672 40342672 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40342672 40342672 C G SNP GHDC ENST00000301671 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 40 13 24.53 34 0 0.00 GHDC 84514 genome.wustl.edu 37 17 40342753 40342753 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40342753 40342753 G A SNP GHDC ENST00000301671 human ensembl 70_37 -1 known nonsense c.1177 p.R393* 0.988 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 49 12 19.67 66 0 0.00 GHR 2690 genome.wustl.edu 37 5 42629161 42629161 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 42629161 42629161 G C SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.92 p.R31T 0.721 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 57 40 41.24 111 0 0.00 GHR 2690 genome.wustl.edu 37 5 42718806 42718806 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 42718806 42718806 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known silent c.1197 p.F399 0.995 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 20 18 47.37 29 0 0.00 GHR 2690 genome.wustl.edu 37 5 42718888 42718888 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 42718888 42718888 G C SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1279 p.D427H 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 87 18 17.14 42 0 0.00 GHR 2690 genome.wustl.edu 37 5 42719029 42719029 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 42719029 42719029 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known nonsense c.1420 p.Q474* 0.988 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 32 31 49.21 85 0 0.00 GHR 2690 genome.wustl.edu 37 5 42719201 42719201 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 42719201 42719201 A G SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1592 p.D531G 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 20 14 41.18 61 0 0.00 GHR 2690 genome.wustl.edu 37 5 42719347 42719347 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 42719347 42719347 G A SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1738 p.G580R 0.189 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 40 13 24.53 64 0 0.00 GHR 2690 genome.wustl.edu 37 5 42719441 42719441 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 42719441 42719441 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1832 p.A611V 0.972 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 31 16 34.04 33 0 0.00 LINC00852 84657 genome.wustl.edu 37 3 10326899 10326899 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 10326899 10326899 C T SNP GHRLOS2 ENST00000475197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GHRLOS2 HGNC ENSG00000231177 6 26 81.25 34 0 0.00 GHSR 2693 genome.wustl.edu 37 3 172165378 172165378 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 172165378 172165378 G C SNP GHSR ENST00000427970 human ensembl 70_37 -1 known missense c.826 p.L276V 0.001 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 28 12 30.00 37 0 0.00 GHSR 2693 genome.wustl.edu 37 3 172165471 172165471 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 172165471 172165471 C T SNP GHSR ENST00000241256 human ensembl 70_37 -1 known missense c.733 p.G245S 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 37 5 11.90 23 0 0.00 GID4 79018 genome.wustl.edu 37 17 17960241 17960241 + Silent SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 17960241 17960241 A G SNP GID4 ENST00000376345 human ensembl 70_37 +1 novel silent c.831 p.P277 0.000 NULL pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC ENSG00000141034 18 7 28.00 27 0 0.00 GID8 54994 genome.wustl.edu 37 20 61574475 61574475 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 61574475 61574475 G C SNP GID8 ENST00000266069 human ensembl 70_37 +1 known missense c.255 p.L85F 0.974 smart_CTLH_C,pfscan_CTLH_C pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 22 18 45.00 28 0 0.00 GID8 54994 genome.wustl.edu 37 20 61574475 61574475 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 61574475 61574475 G C SNP GID8 ENST00000266069 human ensembl 70_37 +1 known missense c.255 p.L85F 0.974 smart_CTLH_C,pfscan_CTLH_C pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 55 22 28.57 62 0 0.00 GIF 2694 genome.wustl.edu 37 11 59611401 59611401 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 59611401 59611401 C T SNP GIF ENST00000257248 human ensembl 70_37 -1 known silent c.207 p.L69 0.563 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 48 32 40.00 74 0 0.00 GIGYF1 64599 genome.wustl.edu 37 7 100284015 100284015 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 100284015 100284015 G A SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.736 p.R246W 0.997 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 22 10 31.25 35 0 0.00 GIGYF1 64599 genome.wustl.edu 37 7 100284359 100284359 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100284359 100284359 C G SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.607 p.E203Q 0.997 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 54 13 19.40 49 0 0.00 GIGYF1 64599 genome.wustl.edu 37 7 100284988 100284988 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 100284988 100284988 C T SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.415 p.E139K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 142 46 24.21 249 0 0.00 GIGYF1 64599 genome.wustl.edu 37 7 100285844 100285844 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100285844 100285844 G C SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known silent c.18 p.L6 0.998 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 8 11 57.89 21 0 0.00 GIGYF2 26058 genome.wustl.edu 37 2 233651973 233651973 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 233651973 233651973 G A SNP GIGYF2 ENST00000373566 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 72 23 23.96 94 0 0.00 GIGYF2 26058 genome.wustl.edu 37 2 233709239 233709239 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 233709239 233709239 G A SNP GIGYF2 ENST00000373566 human ensembl 70_37 +1 known missense c.3326 p.G1109E 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 35 6 14.63 41 0 0.00 GIMAP1 170575 genome.wustl.edu 37 7 150417411 150417411 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150417411 150417411 C A SNP GIMAP1 ENST00000307194 human ensembl 70_37 +1 known missense c.319 p.L107I 0.086 pfam_AIG1 pfam_AIG1 - no_errors GIMAP1 HGNC ENSG00000213203 25 10 28.57 28 0 0.00 GIMAP1 170575 genome.wustl.edu 37 7 150417617 150417617 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 150417617 150417617 C T SNP GIMAP1 ENST00000307194 human ensembl 70_37 +1 known silent c.525 p.R175 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP1 HGNC ENSG00000213203 49 16 24.62 24 0 0.00 GIMAP2 26157 genome.wustl.edu 37 7 150389519 150389519 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150389519 150389519 G A SNP GIMAP2 ENST00000223293 human ensembl 70_37 +1 known missense c.145 p.E49K 0.634 pfam_AIG1 pfam_AIG1 - no_errors GIMAP2 HGNC ENSG00000106560 36 12 25.00 25 0 0.00 GIMAP6 474344 genome.wustl.edu 37 7 150325418 150325418 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150325418 150325418 C G SNP GIMAP6 ENST00000328902 human ensembl 70_37 -1 known missense c.268 p.E90Q 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP6 HGNC ENSG00000133561 34 27 44.26 52 0 0.00 GIMAP7 168537 genome.wustl.edu 37 7 150217069 150217069 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 150217069 150217069 G C SNP GIMAP7 ENST00000313543 human ensembl 70_37 +1 known missense c.7 p.E3Q 0.001 NULL pfam_AIG1 - no_errors GIMAP7 HGNC ENSG00000179144 71 39 35.45 117 0 0.00 GIN1 54826 genome.wustl.edu 37 5 102423568 102423568 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 102423568 102423568 C T SNP GIN1 ENST00000507478 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors GIN1 HGNC ENSG00000145723 30 10 25.00 23 0 0.00 GINS1 9837 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 70_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 13 4 23.53 13 0 0.00 GINS2 51659 genome.wustl.edu 37 16 85711821 85711821 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 85711821 85711821 G T SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known missense c.555 p.F185L 0.997 NULL pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 22 3 12.00 23 0 0.00 GINS2 51659 genome.wustl.edu 37 16 85711932 85711932 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 85711932 85711932 C T SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known silent c.444 p.L148 1.000 pfam_GINS_complex,pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 24 7 22.58 44 0 0.00 GINS2 51659 genome.wustl.edu 37 16 85722474 85722474 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 85722474 85722474 C A SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known nonsense c.31 p.E11* 1.000 pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 30 12 28.57 40 0 0.00 GINS3 64785 genome.wustl.edu 37 16 58426654 58426654 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 58426654 58426654 G A SNP GINS3 ENST00000426538 human ensembl 70_37 +1 known missense c.149 p.R50Q 0.102 NULL pfam_GINS_complex - no_errors GINS3 HGNC ENSG00000181938 30 11 26.83 49 0 0.00 GIP 2695 genome.wustl.edu 37 17 47038294 47038294 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 47038294 47038294 C G SNP GIP ENST00000357424 human ensembl 70_37 -1 known missense c.406 p.E136Q 0.802 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 32 10 23.81 41 0 0.00 GIP 2695 genome.wustl.edu 37 17 47044537 47044537 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 47044537 47044537 G T SNP GIP ENST00000357424 human ensembl 70_37 -1 known missense c.58 p.L20I 0.059 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 21 8 27.59 16 0 0.00 GIP 2695 genome.wustl.edu 37 17 47044545 47044545 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 47044545 47044545 G A SNP GIP ENST00000357424 human ensembl 70_37 -1 known missense c.50 p.A17V 0.923 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 21 13 38.24 36 0 0.00 GIPC1 10755 genome.wustl.edu 37 19 14590226 14590226 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14590226 14590226 G C SNP GIPC1 ENST00000345425 human ensembl 70_37 -1 known missense c.766 p.L256V 0.999 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 11 9 45.00 14 0 0.00 GIPC2 54810 genome.wustl.edu 37 1 78560749 78560749 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 78560749 78560749 G A SNP GIPC2 ENST00000370759 human ensembl 70_37 +1 known silent c.540 p.K180 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC2 HGNC ENSG00000137960 22 22 50.00 48 0 0.00 GIPC2 54810 genome.wustl.edu 37 1 78601340 78601340 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 78601340 78601340 C T SNP GIPC2 ENST00000370759 human ensembl 70_37 +1 known silent c.861 p.D287 0.139 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC2 HGNC ENSG00000137960 34 27 44.26 106 0 0.00 GIPC3 126326 genome.wustl.edu 37 19 3585802 3585802 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3585802 3585802 C G SNP GIPC3 ENST00000322315 human ensembl 70_37 +1 known missense c.207 p.F69L 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 19 6 24.00 9 0 0.00 GIPR 2696 genome.wustl.edu 37 19 46174547 46174547 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 46174547 46174547 C T SNP GIPR ENST00000590918 human ensembl 70_37 +1 known silent c.177 p.L59 0.997 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 95 18 15.93 82 0 0.00 GIPR 2696 genome.wustl.edu 37 19 46174549 46174549 + Missense_Mutation SNP C C A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 46174549 46174549 C A SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.179 p.A60D 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 60 41 40.59 64 0 0.00 GIPR 2696 genome.wustl.edu 37 19 46176166 46176166 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 46176166 46176166 G A SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.338 p.R113K 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 58 7 10.77 65 0 0.00 GIPR 2696 genome.wustl.edu 37 19 46177987 46177987 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46177987 46177987 C G SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.536 p.S179C 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 29 19 39.58 64 0 0.00 GIT2 9815 genome.wustl.edu 37 12 110370926 110370926 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110370926 110370926 C T SNP GIT2 ENST00000355312 human ensembl 70_37 -1 known missense c.2137 p.E713K 1.000 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 54 20 27.03 49 0 0.00 GIT2 9815 genome.wustl.edu 37 12 110427511 110427511 + Missense_Mutation SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 110427511 110427511 G T SNP GIT2 ENST00000355312 human ensembl 70_37 -1 known missense c.283 p.P95T 1.000 pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 55 27 32.93 49 0 0.00 GJA1 2697 genome.wustl.edu 37 6 121768311 121768311 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 121768311 121768311 G A SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known silent c.318 p.L106 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 83 26 23.85 81 0 0.00 GJA1 2697 genome.wustl.edu 37 6 121768436 121768436 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 121768436 121768436 G A SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known missense c.443 p.R148Q 0.995 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 128 24 15.79 130 0 0.00 GJA1 2697 genome.wustl.edu 37 6 121768443 121768443 + Silent SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 121768443 121768443 G T SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known silent c.450 p.G150 0.590 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 51 27 34.62 61 0 0.00 GJA1 2697 genome.wustl.edu 37 6 121768982 121768982 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 121768982 121768982 C T SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known missense c.989 p.S330F 1.000 prints_Connexin43 pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 72 46 38.98 147 0 0.00 GJA10 84694 genome.wustl.edu 37 6 90605031 90605031 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90605031 90605031 C G SNP GJA10 ENST00000369352 human ensembl 70_37 +1 known missense c.844 p.P282A 0.035 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 9 8 47.06 19 0 0.00 GJA10 84694 genome.wustl.edu 37 6 90605391 90605391 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 90605391 90605391 C T SNP GJA10 ENST00000369352 human ensembl 70_37 +1 known missense c.1204 p.L402F 0.003 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 23 13 36.11 40 0 0.00 GJA4 2701 genome.wustl.edu 37 1 35260438 35260438 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 35260438 35260438 C T SNP GJA4 ENST00000342280 human ensembl 70_37 +1 known silent c.624 p.I208 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 25 10 28.57 44 0 0.00 GJA5 2702 genome.wustl.edu 37 1 147230802 147230802 + Missense_Mutation SNP A A C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 147230802 147230802 A C SNP GJA5 ENST00000271348 human ensembl 70_37 -1 known missense c.545 p.L182R 1.000 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 54 20 27.03 44 0 0.00 GJA8 2703 genome.wustl.edu 37 1 147381160 147381160 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 147381160 147381160 G A SNP GJA8 ENST00000240986 human ensembl 70_37 +1 known missense c.1078 p.E360K 0.078 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 31 16 34.04 38 0 0.00 GJA9 81025 genome.wustl.edu 37 1 39340261 39340261 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39340261 39340261 G C SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known missense c.1510 p.L504V 0.203 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 41 12 22.64 47 0 0.00 GJA9 81025 genome.wustl.edu 37 1 39340415 39340415 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39340415 39340415 G C SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known silent c.1356 p.V452 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 31 10 24.39 43 0 0.00 GJA9 81025 genome.wustl.edu 37 1 39340620 39340620 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 39340620 39340620 G A SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known missense c.1151 p.S384F 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 58 7 10.77 36 0 0.00 GJA9 81025 genome.wustl.edu 37 1 39341324 39341324 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 39341324 39341324 G A SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known silent c.447 p.L149 0.986 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 164 69 29.49 192 0 0.00 GJB1 2705 genome.wustl.edu 37 X 70443861 70443861 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 70443861 70443861 G C SNP GJB1 ENST00000361726 human ensembl 70_37 +1 known missense c.304 p.E102Q 0.995 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC ENSG00000169562 13 34 72.34 57 0 0.00 GJB3 2707 genome.wustl.edu 37 1 35250432 35250432 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 35250432 35250432 C T SNP GJB3 ENST00000373362 human ensembl 70_37 +1 known silent c.69 p.I23 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 74 25 25.25 101 0 0.00 GJB3 2707 genome.wustl.edu 37 1 35250933 35250933 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 35250933 35250933 C T SNP GJB3 ENST00000373362 human ensembl 70_37 +1 known silent c.570 p.F190 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 23 5 17.86 27 0 0.00 GJB5 2709 genome.wustl.edu 37 1 35222961 35222961 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 35222961 35222961 G A SNP GJB5 ENST00000338513 human ensembl 70_37 +1 known silent c.30 p.L10 0.942 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 28 13 31.71 41 0 0.00 GJB5 2709 genome.wustl.edu 37 1 35223480 35223480 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 35223480 35223480 G C SNP GJB5 ENST00000338513 human ensembl 70_37 +1 known missense c.549 p.K183N 0.999 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 16 16 50.00 29 0 0.00 GJB6 10804 genome.wustl.edu 37 13 20797329 20797329 + Nonsense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 20797329 20797329 G C SNP GJB6 ENST00000241124 human ensembl 70_37 -1 known nonsense c.291 p.Y97* 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 46 10 17.86 82 0 0.00 GJC1 10052 genome.wustl.edu 37 17 42882496 42882496 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 42882496 42882496 G C SNP GJC1 ENST00000330514 human ensembl 70_37 -1 known missense c.690 p.I230M 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 37 17 31.48 39 0 0.00 GJC2 57165 genome.wustl.edu 37 1 228345525 228345525 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 228345525 228345525 C T SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known silent c.66 p.F22 0.998 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 48 16 25.00 23 0 0.00 GJC2 57165 genome.wustl.edu 37 1 228345731 228345731 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228345731 228345731 C T SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known missense c.272 p.S91L 0.731 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 5 7 58.33 13 0 0.00 GJC2 57165 genome.wustl.edu 37 1 228346171 228346171 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228346171 228346171 G A SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known missense c.712 p.E238K 0.998 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 30 13 30.23 57 0 0.00 GJD2 57369 genome.wustl.edu 37 15 35044752 35044752 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 35044752 35044752 C T SNP GJD2 ENST00000290374 human ensembl 70_37 -1 known missense c.893 p.R298H 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 35 13 27.08 42 0 0.00 GJD2 57369 genome.wustl.edu 37 15 35045326 35045326 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 35045326 35045326 G A SNP GJD2 ENST00000290374 human ensembl 70_37 -1 known missense c.319 p.R107C 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 28 6 17.65 35 0 0.00 GJD3 125111 genome.wustl.edu 37 17 38517354 38517354 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 38517354 38517354 G C SNP GJD3 ENST00000337376 human ensembl 70_37 -1 known missense c.772 p.Q258E 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD3 HGNC ENSG00000183153 11 16 59.26 25 0 0.00 GJD4 219770 genome.wustl.edu 37 10 35897248 35897248 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 35897248 35897248 C T SNP GJD4 ENST00000321660 human ensembl 70_37 +1 known silent c.807 p.R269 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 71 18 20.00 127 0 0.00 GK 2710 genome.wustl.edu 37 X 30686131 30686131 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 X 30686131 30686131 G A SNP GK ENST00000378943 human ensembl 70_37 +1 known nonsense c.155 p.W52* 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 75 20 21.05 98 0 0.00 GK 2710 genome.wustl.edu 37 X 30712558 30712558 + Nonstop_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 30712558 30712558 G C SNP GK ENST00000471362 human ensembl 70_37 +1 known nonstop c.272 p.*91S 1.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK HGNC ENSG00000198814 57 54 48.65 98 0 0.00 GK2 2712 genome.wustl.edu 37 4 80328008 80328008 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 80328008 80328008 G A SNP GK2 ENST00000358842 human ensembl 70_37 -1 known silent c.1347 p.P449 0.010 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 66 15 18.52 41 0 0.00 GK2 2712 genome.wustl.edu 37 4 80328137 80328137 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 80328137 80328137 C A SNP GK2 ENST00000358842 human ensembl 70_37 -1 known missense c.1218 p.E406D 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 23 7 23.33 64 0 0.00 GK5 256356 genome.wustl.edu 37 3 141884578 141884578 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 141884578 141884578 C G SNP GK5 ENST00000392993 human ensembl 70_37 -1 known silent c.1476 p.L492 1.000 NULL pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 40 39 49.37 47 0 0.00 GK5 256356 genome.wustl.edu 37 3 141900366 141900366 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 141900366 141900366 C T SNP GK5 ENST00000392993 human ensembl 70_37 -1 known missense c.985 p.V329I 1.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 42 45 51.14 37 0 0.00 GK5 256356 genome.wustl.edu 37 3 141900366 141900366 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 141900366 141900366 C T SNP GK5 ENST00000392993 human ensembl 70_37 -1 known missense c.985 p.V329I 1.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 77 54 40.60 113 0 0.00 GK5 256356 genome.wustl.edu 37 3 141905084 141905084 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141905084 141905084 G A SNP GK5 ENST00000392993 human ensembl 70_37 -1 known missense c.707 p.S236F 0.978 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 20 5 20.00 16 0 0.00 GK5 256356 genome.wustl.edu 37 3 141917646 141917646 + Nonsense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 141917646 141917646 C A SNP GK5 ENST00000392993 human ensembl 70_37 -1 known nonsense c.541 p.E181* 0.974 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 65 31 32.29 82 0 0.00 GKAP1 80318 genome.wustl.edu 37 9 86363353 86363353 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 86363353 86363353 C G SNP GKAP1 ENST00000376362 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GKAP1 HGNC ENSG00000165113 26 6 18.75 38 0 0.00 GKAP1 80318 genome.wustl.edu 37 9 86421236 86421236 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 86421236 86421236 T C SNP GKAP1 ENST00000376371 human ensembl 70_37 -1 known missense c.197 p.Q66R 1.000 NULL NULL - no_errors GKAP1 HGNC ENSG00000165113 39 19 32.76 53 0 0.00 GKAP1 80318 genome.wustl.edu 37 9 86421237 86421237 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 9 86421237 86421237 G T SNP GKAP1 ENST00000376371 human ensembl 70_37 -1 known missense c.196 p.Q66K 1.000 NULL NULL - no_errors GKAP1 HGNC ENSG00000165113 37 20 34.48 54 0 0.00 GLA 2717 genome.wustl.edu 37 X 100652821 100652821 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100652821 100652821 C T SNP GLA ENST00000218516 human ensembl 70_37 -1 known silent c.1266 p.Q422 0.000 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 16 44 73.33 24 0 0.00 GLA 2717 genome.wustl.edu 37 X 100658843 100658843 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 100658843 100658843 C G SNP GLA ENST00000218516 human ensembl 70_37 -1 known missense c.325 p.D109H 1.000 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 147 64 30.19 250 0 0.00 GLA 2717 genome.wustl.edu 37 X 100662883 100662883 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 100662883 100662883 C T SNP GLA ENST00000218516 human ensembl 70_37 -1 known silent c.9 p.L3 0.000 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 19 8 29.63 24 0 0.00 GLB1 2720 genome.wustl.edu 37 3 33055739 33055739 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 33055739 33055739 C G SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.1687 p.D563H 0.957 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 30 5 14.29 59 0 0.00 GLB1 2720 genome.wustl.edu 37 3 33055755 33055755 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 33055755 33055755 C T SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known nonsense c.1671 p.W557* 1.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 26 5 16.13 50 0 0.00 GLB1 2720 genome.wustl.edu 37 3 33059991 33059991 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 33059991 33059991 G C SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known silent c.1440 p.L480 0.984 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 69 28 28.87 65 0 0.00 GLB1 2720 genome.wustl.edu 37 3 33094985 33094985 + Missense_Mutation SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 33094985 33094985 A T SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.934 p.L312M 0.974 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 78 19 19.59 71 0 0.00 GLB1 2720 genome.wustl.edu 37 3 33109756 33109756 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33109756 33109756 C A SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.567 p.E189D 0.562 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 8 7 46.67 35 0 0.00 GLB1L 79411 genome.wustl.edu 37 2 220102371 220102371 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 220102371 220102371 C A SNP GLB1L ENST00000295759 human ensembl 70_37 -1 known missense c.1552 p.V518L 0.961 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 23 7 23.33 24 0 0.00 GLB1L 79411 genome.wustl.edu 37 2 220103037 220103037 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220103037 220103037 C G SNP GLB1L ENST00000295759 human ensembl 70_37 -1 known missense c.1276 p.E426Q 0.170 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 83 40 32.26 63 0 0.00 GLB1L2 89944 genome.wustl.edu 37 11 134226237 134226237 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 134226237 134226237 G A SNP GLB1L2 ENST00000339772 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 28 15 34.88 54 0 0.00 GLB1L3 112937 genome.wustl.edu 37 11 134151280 134151280 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 134151280 134151280 G A SNP GLB1L3 ENST00000431683 human ensembl 70_37 +1 known silent c.372 p.P124 0.004 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 67 14 17.28 75 0 0.00 GLB1L3 112937 genome.wustl.edu 37 11 134153651 134153651 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 134153651 134153651 G A SNP GLB1L3 ENST00000431683 human ensembl 70_37 +1 known missense c.548 p.R183Q 0.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 25 27 51.92 25 0 0.00 GLDC 2731 genome.wustl.edu 37 9 6534789 6534789 + Splice_Site SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 6534789 6534789 C G SNP GLDC ENST00000321612 human ensembl 70_37 -1 known splice_site c.2839-1 e24-1 1.000 - - - no_errors GLDC HGNC ENSG00000178445 27 10 27.03 41 0 0.00 GLDC 2731 genome.wustl.edu 37 9 6535985 6535985 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 6535985 6535985 C T SNP GLDC ENST00000477960 human ensembl 70_37 -1 known rna NULL NULL 0.187 - - - no_errors GLDC HGNC ENSG00000178445 14 15 51.72 34 0 0.00 GLDC 2731 genome.wustl.edu 37 9 6588650 6588650 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6588650 6588650 C A SNP GLDC ENST00000321612 human ensembl 70_37 -1 known missense c.1633 p.D545Y 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 6 2 25.00 13 0 0.00 GLDC 2731 genome.wustl.edu 37 9 6605200 6605200 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 6605200 6605200 G C SNP GLDC ENST00000321612 human ensembl 70_37 -1 known missense c.792 p.F264L 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 86 29 25.00 57 0 0.00 GLDN 342035 genome.wustl.edu 37 15 51689762 51689762 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 51689762 51689762 C T SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.784 p.R262W 0.834 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 38 19 33.33 61 0 0.00 GLDN 342035 genome.wustl.edu 37 15 51689777 51689777 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 51689777 51689777 T C SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.799 p.F267L 1.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 33 5 13.16 49 0 0.00 GLDN 342035 genome.wustl.edu 37 15 51696532 51696532 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 51696532 51696532 G A SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.1237 p.D413N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 22 13 37.14 39 0 0.00 GLDN 342035 genome.wustl.edu 37 15 51696940 51696940 + Missense_Mutation SNP T T G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 51696940 51696940 T G SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.1645 p.L549V 0.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 58 8 12.12 79 0 0.00 GLE1 2733 genome.wustl.edu 37 9 131271285 131271285 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 131271285 131271285 C G SNP GLE1 ENST00000309971 human ensembl 70_37 +1 known nonsense c.230 p.S77* 0.021 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 175 28 13.79 154 0 0.00 GLE1 2733 genome.wustl.edu 37 9 131271285 131271285 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 131271285 131271285 C G SNP GLE1 ENST00000309971 human ensembl 70_37 +1 known nonsense c.230 p.S77* 0.021 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 31 6 16.22 20 0 0.00 GLG1 2734 genome.wustl.edu 37 16 74503973 74503973 + Splice_Site SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 74503973 74503973 T A SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known splice_site c.2230-2 e16-2 1.000 - - - no_errors GLG1 HGNC ENSG00000090863 27 18 40.00 46 0 0.00 GLG1 2734 genome.wustl.edu 37 16 74516967 74516967 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 74516967 74516967 C G SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.1627 p.E543Q 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 73 58 44.27 142 0 0.00 GLG1 2734 genome.wustl.edu 37 16 74517022 74517022 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 74517022 74517022 C T SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.1572 p.M524I 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 60 38 38.78 120 0 0.00 GLG1 2734 genome.wustl.edu 37 16 74528657 74528657 + Splice_Site SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 16 74528657 74528657 C A SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known splice_site c.1050+1 e6+1 1.000 - - - no_errors GLG1 HGNC ENSG00000090863 32 13 28.26 62 0 0.00 GLG1 2734 genome.wustl.edu 37 16 74537580 74537580 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 74537580 74537580 C T SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.623 p.R208Q 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 30 12 28.57 62 0 0.00 GLI1 2735 genome.wustl.edu 37 12 57861878 57861878 + Frame_Shift_Del DEL G G - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57861878 57861878 G - DEL GLI1 ENST00000228682 human ensembl 70_37 +1 known frame_shift_del c.1179 p.T394fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 18 7 28.00 45 0 0.00 GLI1 2735 genome.wustl.edu 37 12 57864774 57864774 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 57864774 57864774 C G SNP GLI1 ENST00000228682 human ensembl 70_37 +1 known missense c.2251 p.L751V 0.736 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 18 9 33.33 21 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121708959 121708959 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 121708959 121708959 C A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.395 p.S132Y 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 11 10 47.62 44 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121726386 121726386 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 121726386 121726386 G A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.740 p.R247Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 44 33 42.86 85 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121740398 121740398 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 121740398 121740398 A C SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.1625 p.K542T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 29 9 23.68 58 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121744182 121744182 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 121744182 121744182 C T SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.2285 p.P762L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 34 22 39.29 40 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121744182 121744182 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 121744182 121744182 C T SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.2285 p.P762L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 37 35 48.61 51 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121746932 121746932 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 121746932 121746932 G C SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.3442 p.E1148Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 50 29 36.71 33 0 0.00 GLI2 2736 genome.wustl.edu 37 2 121747944 121747944 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 121747944 121747944 C A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.4454 p.P1485H 0.933 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 34 4 10.53 30 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42004460 42004460 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 42004460 42004460 A T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.4211 p.L1404Q 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 17 6 26.09 27 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42004984 42004984 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 42004984 42004984 C G SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.3687 p.L1229F 0.923 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 39 6 13.04 25 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42004984 42004984 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 42004984 42004984 C G SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.3687 p.L1229F 0.923 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 73 19 20.65 107 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42006024 42006024 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 42006024 42006024 C T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.2647 p.E883K 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 25 29 53.70 49 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42011988 42011988 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 42011988 42011988 G A SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.2051 p.S684L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 39 31 44.29 58 0 0.00 GLI3 2737 genome.wustl.edu 37 7 42088256 42088256 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 42088256 42088256 C T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known silent c.513 p.L171 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 43 20 31.25 47 0 0.00 GLI4 2738 genome.wustl.edu 37 8 144356975 144356975 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 144356975 144356975 G A SNP GLI4 ENST00000344692 human ensembl 70_37 +1 putative missense c.226 p.E76K 0.037 NULL NULL - no_errors GLI4 HGNC ENSG00000250571 41 20 32.79 59 0 0.00 GLIPR1 11010 genome.wustl.edu 37 12 75874739 75874739 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 75874739 75874739 G A SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known missense c.79 p.D27N 0.822 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 43 6 12.00 50 0 0.00 GLIPR1 11010 genome.wustl.edu 37 12 75874744 75874744 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 75874744 75874744 C T SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known silent c.84 p.I28 0.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 28 8 22.22 66 0 0.00 GLIPR1 11010 genome.wustl.edu 37 12 75892666 75892666 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 75892666 75892666 T C SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known missense c.709 p.F237L 0.909 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 29 15 34.09 45 0 0.00 GLIPR1L1 256710 genome.wustl.edu 37 12 75756946 75756946 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 75756946 75756946 G A SNP GLIPR1L1 ENST00000378695 human ensembl 70_37 +1 known missense c.586 p.E196K 0.005 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 5 3 37.50 9 0 0.00 GLIPR2 152007 genome.wustl.edu 37 9 36162779 36162779 + RNA SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 36162779 36162779 T A SNP GLIPR2 ENST00000474050 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors GLIPR2 HGNC ENSG00000122694 8 5 38.46 14 0 0.00 GLIS1 148979 genome.wustl.edu 37 1 53974848 53974848 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 53974848 53974848 G C SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.1650 p.F550L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 102 19 15.57 114 0 0.00 GLIS1 148979 genome.wustl.edu 37 1 53980322 53980322 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 53980322 53980322 G T SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.1334 p.P445H 0.974 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 32 4 11.11 27 0 0.00 GLIS1 148979 genome.wustl.edu 37 1 53995600 53995600 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 53995600 53995600 G A SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.821 p.S274L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 77 44 36.36 81 0 0.00 GLIS1 148979 genome.wustl.edu 37 1 54059922 54059922 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 54059922 54059922 C T SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known silent c.654 p.K218 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 36 27 42.86 63 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4383413 4383413 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4383413 4383413 G C SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.238 p.D80H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 52 10 16.13 77 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4383433 4383433 + Silent SNP A A G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 16 4383433 4383433 A G SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.258 p.P86 0.912 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 54 12 18.18 63 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4383476 4383476 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4383476 4383476 G A SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.301 p.E101K 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 30 10 25.00 42 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4384930 4384930 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4384930 4384930 C G SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.474 p.L158 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 44 12 21.43 30 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4385082 4385082 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 4385082 4385082 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.544 p.L182 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 124 32 20.51 115 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4385353 4385353 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4385353 4385353 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.734 p.S245F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 31 18 36.73 36 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4386876 4386876 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4386876 4386876 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.926 p.S309L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 19 10 34.48 34 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4386904 4386904 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4386904 4386904 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.954 p.G318 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 15 10 40.00 25 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4387454 4387454 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 4387454 4387454 G A SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.1504 p.E502K 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 31 6 16.22 25 0 0.00 GLIS2 84662 genome.wustl.edu 37 16 4387480 4387480 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4387480 4387480 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.1530 p.V510 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 24 11 31.43 35 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 3827920 3827920 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 9 3827920 3827920 G A SNP GLIS3 ENST00000461870 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors GLIS3 HGNC ENSG00000107249 4 11 73.33 20 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 3828373 3828373 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 3828373 3828373 C T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.2692 p.G898R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 20 13 39.39 30 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 3829394 3829394 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 3829394 3829394 C A SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known nonsense c.2572 p.E858* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 17 4 19.05 23 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 3898693 3898693 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 3898693 3898693 G A SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.2126 p.S709L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 35 35 50.00 75 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 3932409 3932409 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 3932409 3932409 C T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.1934 p.R645K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 52 422 88.84 94 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 4125815 4125815 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 4125815 4125815 G C SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.515 p.S172C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 28 10 26.32 57 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 4125836 4125836 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 4125836 4125836 G T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known nonsense c.494 p.S165* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 30 6 16.67 45 0 0.00 GLIS3 169792 genome.wustl.edu 37 9 4299597 4299597 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 4299597 4299597 G A SNP GLIS3 ENST00000490709 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors GLIS3 HGNC ENSG00000107249 18 5 21.74 19 0 0.00 GLMN 11146 genome.wustl.edu 37 1 92713518 92713518 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 92713518 92713518 A C SNP GLMN ENST00000370360 human ensembl 70_37 -1 known missense c.1502 p.I501S 1.000 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 39 10 20.41 60 0 0.00 GLO1 2739 genome.wustl.edu 37 6 38645133 38645133 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 38645133 38645133 G C SNP GLO1 ENST00000373365 human ensembl 70_37 -1 known missense c.493 p.Q165E 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC ENSG00000124767 8 3 27.27 14 0 0.00 GLOD4 51031 genome.wustl.edu 37 17 685469 685469 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 685469 685469 G A SNP GLOD4 ENST00000301328 human ensembl 70_37 -1 known silent c.27 p.F9 1.000 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 36 4 10.00 33 0 0.00 GLOD5 392465 genome.wustl.edu 37 X 48629375 48629375 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48629375 48629375 G C SNP GLOD5 ENST00000303227 human ensembl 70_37 +1 known missense c.234 p.Q78H 0.999 pfam_Glyas_Fos-R_dOase_dom pfam_Glyas_Fos-R_dOase_dom - no_errors GLOD5 HGNC ENSG00000171433 21 6 22.22 36 0 0.00 GLP1R 2740 genome.wustl.edu 37 6 39034011 39034011 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 39034011 39034011 C T SNP GLP1R ENST00000373256 human ensembl 70_37 +1 known silent c.441 p.I147 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 25 15 37.50 38 0 0.00 GLP1R 2740 genome.wustl.edu 37 6 39053697 39053697 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39053697 39053697 C T SNP GLP1R ENST00000373256 human ensembl 70_37 +1 known missense c.1240 p.R414W 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 42 19 31.15 82 0 0.00 GLP2R 9340 genome.wustl.edu 37 17 9783806 9783806 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 9783806 9783806 C T SNP GLP2R ENST00000262441 human ensembl 70_37 +1 known silent c.1257 p.F419 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 67 18 21.18 87 0 0.00 GLRA1 2741 genome.wustl.edu 37 5 151208606 151208606 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 151208606 151208606 T C SNP GLRA1 ENST00000455880 human ensembl 70_37 -1 known missense c.935 p.D312G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 10 10 50.00 25 0 0.00 GLRA2 2742 genome.wustl.edu 37 X 14550433 14550433 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 14550433 14550433 C T SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known silent c.141 p.F47 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 33 6 15.38 41 0 0.00 GLRA2 2742 genome.wustl.edu 37 X 14627259 14627259 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 14627259 14627259 G A SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known missense c.862 p.A288T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 87 13 13.00 64 0 0.00 GLRA2 2742 genome.wustl.edu 37 X 14748344 14748344 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 14748344 14748344 C T SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known missense c.1096 p.R366C 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A2,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 423 98 18.74 744 1 0.13 GLRA3 8001 genome.wustl.edu 37 4 175564951 175564951 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175564951 175564951 G C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.1381 p.Q461E 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 219 49 18.22 273 1 0.36 GLRA3 8001 genome.wustl.edu 37 4 175564951 175564951 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175564951 175564951 G C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.1381 p.Q461E 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 53 14 20.90 48 0 0.00 GLRA3 8001 genome.wustl.edu 37 4 175577900 175577900 + Silent SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 175577900 175577900 T C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known silent c.1110 p.S370 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A3,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 27 13 32.50 67 0 0.00 GLRA3 8001 genome.wustl.edu 37 4 175598419 175598419 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 175598419 175598419 C T SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.737 p.R246Q 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 6 5 45.45 30 0 0.00 GLRA3 8001 genome.wustl.edu 37 4 175636664 175636664 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 175636664 175636664 T G SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.549 p.Q183H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 35 7 16.67 49 0 0.00 GLRA3 8001 genome.wustl.edu 37 4 175644037 175644037 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 175644037 175644037 C T SNP GLRA3 ENST00000436738 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors GLRA3 HGNC ENSG00000145451 16 19 54.29 31 0 0.00 GLRA4 441509 genome.wustl.edu 37 X 102968492 102968492 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 102968492 102968492 T C SNP GLRA4 ENST00000372617 human ensembl 70_37 -1 known missense c.1039 p.K347E 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 52 42 44.68 56 0 0.00 GLRA4 441509 genome.wustl.edu 37 X 102979469 102979469 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 102979469 102979469 C T SNP GLRA4 ENST00000372617 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 30 20 40.00 61 0 0.00 GLRA4 441509 genome.wustl.edu 37 X 102979867 102979867 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 102979867 102979867 C A SNP GLRA4 ENST00000372617 human ensembl 70_37 -1 known missense c.161 p.R54L 0.974 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 36 4 10.00 75 0 0.00 GLRB 2743 genome.wustl.edu 37 4 158073953 158073953 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 158073953 158073953 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known missense c.988 p.D330N 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 64 23 26.44 144 0 0.00 GLRB 2743 genome.wustl.edu 37 4 158074128 158074128 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 158074128 158074128 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known missense c.1163 p.G388E 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 49 22 30.99 55 0 0.00 GLRB 2743 genome.wustl.edu 37 4 158091757 158091757 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 158091757 158091757 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known silent c.1371 p.K457 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 16 4 20.00 42 0 0.00 GLRX 2745 genome.wustl.edu 37 5 95158313 95158313 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 95158313 95158313 G A SNP GLRX ENST00000237858 human ensembl 70_37 -1 known silent c.54 p.F18 1.000 pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX HGNC ENSG00000173221 58 13 18.06 67 0 0.00 GLRX2 51022 genome.wustl.edu 37 1 193070288 193070288 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 193070288 193070288 G A SNP GLRX2 ENST00000367440 human ensembl 70_37 -1 known missense c.169 p.P57S 0.197 superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 33 4 10.81 22 0 0.00 GLRX5 51218 genome.wustl.edu 37 14 96010554 96010554 + RNA SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 96010554 96010554 G C SNP GLRX5 ENST00000553672 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GLRX5 HGNC ENSG00000182512 17 7 29.17 18 0 0.00 GLS 2744 genome.wustl.edu 37 2 191769883 191769883 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 191769883 191769883 G A SNP GLS ENST00000320717 human ensembl 70_37 +1 known silent c.969 p.L323 0.982 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 53 17 24.29 52 0 0.00 GLS2 27165 genome.wustl.edu 37 12 56868639 56868639 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56868639 56868639 G C SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known silent c.1038 p.L346 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 21 12 36.36 29 0 0.00 GLS2 27165 genome.wustl.edu 37 12 56872898 56872898 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 56872898 56872898 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known missense c.472 p.E158Q 1.000 superfamily_Beta-lactam/transpept-like pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 14 10 41.67 35 0 0.00 GLS2 27165 genome.wustl.edu 37 12 56872959 56872959 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 56872959 56872959 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known silent c.411 p.V137 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 17 11 37.93 31 0 0.00 GLS2 27165 genome.wustl.edu 37 12 56873669 56873669 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56873669 56873669 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known missense c.299 p.G100A 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 37 5 11.90 38 0 0.00 GLT1D1 144423 genome.wustl.edu 37 12 129360521 129360521 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 129360521 129360521 G C SNP GLT1D1 ENST00000442111 human ensembl 70_37 +1 known missense c.131 p.R44P 0.090 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 51 13 20.31 46 0 0.00 GLT1D1 144423 genome.wustl.edu 37 12 129373190 129373190 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 129373190 129373190 G A SNP GLT1D1 ENST00000442111 human ensembl 70_37 +1 known missense c.224 p.R75Q 0.000 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 40 13 24.53 69 0 0.00 GLT1D1 144423 genome.wustl.edu 37 12 129467532 129467532 + Missense_Mutation SNP T T A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 12 129467532 129467532 T A SNP GLT1D1 ENST00000442111 human ensembl 70_37 +1 known missense c.938 p.V313E 0.223 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 93 61 39.61 143 0 0.00 COLGALT1 79709 genome.wustl.edu 37 19 17666677 17666677 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 17666677 17666677 C T SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known missense c.155 p.P52L 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 28 20 41.67 22 0 0.00 COLGALT1 79709 genome.wustl.edu 37 19 17678289 17678289 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 17678289 17678289 C T SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known silent c.564 p.V188 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 47 28 37.33 83 0 0.00 COLGALT1 79709 genome.wustl.edu 37 19 17678321 17678321 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 17678321 17678321 C G SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known missense c.596 p.S199C 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 28 15 34.88 51 0 0.00 COLGALT1 79709 genome.wustl.edu 37 19 17690345 17690345 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 17690345 17690345 G A SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 21 9 30.00 26 0 0.00 COLGALT1 79709 genome.wustl.edu 37 19 17692157 17692157 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 17692157 17692157 C T SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known silent c.1773 p.S591 0.994 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC ENSG00000130309 14 4 22.22 35 0 0.00 COLGALT2 23127 genome.wustl.edu 37 1 183914630 183914630 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 183914630 183914630 G A SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known missense c.1205 p.S402F 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 40 25 38.46 47 0 0.00 COLGALT2 23127 genome.wustl.edu 37 1 183938564 183938564 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 183938564 183938564 C T SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known nonsense c.671 p.W224* 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 14 4 22.22 22 0 0.00 COLGALT2 23127 genome.wustl.edu 37 1 183947545 183947545 + Nonsense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 183947545 183947545 C A SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known nonsense c.373 p.E125* 0.496 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 94 40 29.63 116 0 0.00 GLT8D2 83468 genome.wustl.edu 37 12 104391268 104391268 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 104391268 104391268 C T SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known missense c.448 p.E150K 0.996 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 26 18 40.91 47 0 0.00 GLT8D2 83468 genome.wustl.edu 37 12 104393268 104393268 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 104393268 104393268 C G SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known silent c.309 p.L103 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 21 4 16.00 27 0 0.00 GLT8D2 83468 genome.wustl.edu 37 12 104397008 104397008 + Frame_Shift_Del DEL A A - TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 104397008 104397008 A - DEL GLT8D2 ENST00000360814 human ensembl 70_37 -1 known frame_shift_del c.189 p.A64fs 0.027 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 98 28 22.22 106 0 0.00 GLT8D2 83468 genome.wustl.edu 37 12 104397061 104397061 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104397061 104397061 C A SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known nonsense c.136 p.E46* 1.000 NULL pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 34 9 20.45 62 0 0.00 GLTPD1 80772 genome.wustl.edu 37 1 1263337 1263337 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 1263337 1263337 C T SNP GLTPD1 ENST00000464957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GLTPD1 HGNC ENSG00000224051 11 9 45.00 30 0 0.00 GLTPD2 388323 genome.wustl.edu 37 17 4693081 4693081 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 4693081 4693081 C T SNP GLTPD2 ENST00000331264 human ensembl 70_37 +1 known silent c.366 p.F122 0.962 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD2 HGNC ENSG00000182327 40 12 23.08 61 0 0.00 GLTSCR1 29998 genome.wustl.edu 37 19 48202003 48202003 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 48202003 48202003 C G SNP GLTSCR1 ENST00000396720 human ensembl 70_37 +1 known missense c.3361 p.Q1121E 1.000 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 55 17 23.61 65 0 0.00 GLTSCR1 29998 genome.wustl.edu 37 19 48204833 48204833 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 48204833 48204833 G A SNP GLTSCR1 ENST00000396720 human ensembl 70_37 +1 known missense c.3844 p.D1282N 0.942 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 9 3 25.00 11 0 0.00 GLUD1 2746 genome.wustl.edu 37 10 88811555 88811555 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 88811555 88811555 C G SNP GLUD1 ENST00000277865 human ensembl 70_37 -1 known missense c.1630 p.E544Q 1.000 smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 52 40 43.48 70 0 0.00 GLUD1 2746 genome.wustl.edu 37 10 88820784 88820784 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 88820784 88820784 G C SNP GLUD1 ENST00000277865 human ensembl 70_37 -1 known missense c.947 p.S316C 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 15 20 57.14 34 0 0.00 GLUD2 2747 genome.wustl.edu 37 X 120182121 120182121 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 120182121 120182121 G A SNP GLUD2 ENST00000328078 human ensembl 70_37 +1 known missense c.583 p.E195K 0.986 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 117 89 43.20 246 1 0.40 GLUD2 2747 genome.wustl.edu 37 X 120182171 120182171 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 120182171 120182171 G A SNP GLUD2 ENST00000328078 human ensembl 70_37 +1 known silent c.633 p.K211 1.000 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 93 56 37.58 238 0 0.00 GLUD2 2747 genome.wustl.edu 37 X 120182357 120182357 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 120182357 120182357 C T SNP GLUD2 ENST00000328078 human ensembl 70_37 +1 known silent c.819 p.G273 0.990 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 123 21 14.58 108 0 0.00 GLUL 2752 genome.wustl.edu 37 1 182353749 182353749 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 182353749 182353749 C T SNP GLUL ENST00000311223 human ensembl 70_37 -1 known missense c.913 p.E305K 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 51 14 21.54 44 0 0.00 GLUL 2752 genome.wustl.edu 37 1 182355306 182355306 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 182355306 182355306 G C SNP GLUL ENST00000491322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC ENSG00000135821 23 15 39.47 30 0 0.00 GLUL 2752 genome.wustl.edu 37 1 182355367 182355367 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 182355367 182355367 C T SNP GLUL ENST00000475808 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC ENSG00000135821 69 44 38.94 88 0 0.00 GLUL 2752 genome.wustl.edu 37 1 182359685 182359685 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 182359685 182359685 C G SNP GLUL ENST00000480604 human ensembl 70_37 -1 known rna NULL NULL 0.498 - - - no_errors GLUL HGNC ENSG00000135821 73 33 31.13 71 0 0.00 GLUL 2752 genome.wustl.edu 37 1 182359958 182359958 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 182359958 182359958 C T SNP GLUL ENST00000480604 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC ENSG00000135821 59 9 13.24 46 0 0.00 GLYAT 10249 genome.wustl.edu 37 11 58477548 58477548 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 58477548 58477548 C T SNP GLYAT ENST00000344743 human ensembl 70_37 -1 known silent c.582 p.Q194 0.805 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 53 33 38.37 79 0 0.00 GLYATL1 92292 genome.wustl.edu 37 11 58723127 58723127 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58723127 58723127 C T SNP GLYATL1 ENST00000300079 human ensembl 70_37 +1 known missense c.629 p.S210F 0.001 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 25 17 40.48 67 0 0.00 GLYATL1P2 100129933 genome.wustl.edu 37 11 58660238 58660238 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58660238 58660238 G A SNP GLYATL1P2 ENST00000529451 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors GLYATL1P2 HGNC ENSG00000254717 20 21 51.22 35 0 0.00 GLYATL1P2 100129933 genome.wustl.edu 37 11 58660281 58660281 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58660281 58660281 G A SNP GLYATL1P2 ENST00000529451 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors GLYATL1P2 HGNC ENSG00000254717 18 15 45.45 26 0 0.00 GLYR1 84656 genome.wustl.edu 37 16 4861208 4861208 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 4861208 4861208 A C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.1550 p.V517G 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 27 3 10.00 55 0 0.00 GLYR1 84656 genome.wustl.edu 37 16 4861264 4861264 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 4861264 4861264 G C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.1494 p.F498L 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 46 19 29.23 64 0 0.00 GLYR1 84656 genome.wustl.edu 37 16 4882065 4882065 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4882065 4882065 G C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.452 p.S151C 1.000 NULL pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 45 24 34.78 33 0 0.00 GM2A 2760 genome.wustl.edu 37 5 150632828 150632828 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150632828 150632828 C T SNP GM2A ENST00000357164 human ensembl 70_37 +1 known silent c.51 p.L17 0.006 NULL smart_MD-2_lipid-recog - no_errors GM2A HGNC ENSG00000196743 107 34 24.11 176 0 0.00 GMCL1 64395 genome.wustl.edu 37 2 70057063 70057063 + Missense_Mutation SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 70057063 70057063 A T SNP GMCL1 ENST00000282570 human ensembl 70_37 +1 known missense c.39 p.R13S 0.339 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 3 5 62.50 15 0 0.00 GMCL1 64395 genome.wustl.edu 37 2 70088422 70088422 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 70088422 70088422 C T SNP GMCL1 ENST00000282570 human ensembl 70_37 +1 known missense c.1085 p.S362F 0.999 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 50 16 24.24 43 0 0.00 GMDS 2762 genome.wustl.edu 37 6 1624425 1624425 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 1624425 1624425 C G SNP GMDS ENST00000380815 human ensembl 70_37 -1 known missense c.1098 p.M366I 1.000 NULL pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 66 12 15.38 89 0 0.00 GMDS 2762 genome.wustl.edu 37 6 2116041 2116041 + Silent SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 2116041 2116041 T A SNP GMDS ENST00000380815 human ensembl 70_37 -1 known silent c.309 p.T103 0.013 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 24 12 33.33 29 0 0.00 GMEB1 10691 genome.wustl.edu 37 1 29018110 29018110 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 29018110 29018110 A C SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known silent c.255 p.I85 0.997 pfscan_SAND_dom pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 22 8 26.67 55 0 0.00 GMEB1 10691 genome.wustl.edu 37 1 29023524 29023524 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29023524 29023524 C G SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known missense c.556 p.L186V 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 30 21 41.18 27 0 0.00 GMEB1 10691 genome.wustl.edu 37 1 29040885 29040885 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 29040885 29040885 C T SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known missense c.1322 p.S441F 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 44 10 18.52 40 0 0.00 GMFG 9535 genome.wustl.edu 37 19 39819686 39819686 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 39819686 39819686 T C SNP GMFG ENST00000597595 human ensembl 70_37 -1 known missense c.311 p.Y104C 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 55 17 23.61 76 0 0.00 GMFG 9535 genome.wustl.edu 37 19 39820225 39820225 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 39820225 39820225 C T SNP GMFG ENST00000597595 human ensembl 70_37 -1 known missense c.242 p.R81Q 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 8 9 52.94 19 0 0.00 GMFG 9535 genome.wustl.edu 37 19 39826106 39826106 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 39826106 39826106 G T SNP GMFG ENST00000597595 human ensembl 70_37 -1 known missense c.69 p.F23L 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 20 3 13.04 42 0 0.00 GMIP 51291 genome.wustl.edu 37 19 19745468 19745468 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 19745468 19745468 G T SNP GMIP ENST00000203556 human ensembl 70_37 -1 known silent c.1932 p.I644 0.998 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 29 4 12.12 51 0 0.00 GMIP 51291 genome.wustl.edu 37 19 19746372 19746372 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 19746372 19746372 C G SNP GMIP ENST00000203556 human ensembl 70_37 -1 known missense c.1412 p.G471A 0.908 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 11 10 47.62 31 0 0.00 GMIP 51291 genome.wustl.edu 37 19 19753385 19753385 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 19753385 19753385 G A SNP GMIP ENST00000203556 human ensembl 70_37 -1 known silent c.63 p.I21 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 54 11 16.92 48 0 0.00 GMNN 51053 genome.wustl.edu 37 6 24777516 24777516 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 24777516 24777516 G T SNP GMNN ENST00000230056 human ensembl 70_37 +1 known missense c.42 p.E14D 0.474 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 17 13 43.33 72 0 0.00 GMNN 51053 genome.wustl.edu 37 6 24781754 24781754 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 24781754 24781754 C G SNP GMNN ENST00000230056 human ensembl 70_37 +1 known missense c.179 p.S60C 0.397 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 38 29 43.28 66 0 0.00 GMNN 51053 genome.wustl.edu 37 6 24784710 24784710 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 24784710 24784710 C G SNP GMNN ENST00000230056 human ensembl 70_37 +1 known silent c.396 p.A132 0.999 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 34 4 10.53 51 0 0.00 GMPPA 29926 genome.wustl.edu 37 2 220370347 220370347 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 220370347 220370347 C T SNP GMPPA ENST00000373917 human ensembl 70_37 +1 novel missense c.923 p.S308L 0.000 NULL pfam_NTP_transferase,superfamily_Trimer_LpxA-like - no_errors GMPPA HGNC ENSG00000144591 20 5 20.00 31 0 0.00 GMPR 2766 genome.wustl.edu 37 6 16295255 16295255 + Silent SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 16295255 16295255 T G SNP GMPR ENST00000259727 human ensembl 70_37 +1 known silent c.876 p.T292 0.015 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 17 60 77.92 38 0 0.00 GMPR 2766 genome.wustl.edu 37 6 16295255 16295255 + Silent SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 16295255 16295255 T G SNP GMPR ENST00000259727 human ensembl 70_37 +1 known silent c.876 p.T292 0.015 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 22 45 67.16 45 0 0.00 GMPR 2766 genome.wustl.edu 37 6 16295275 16295275 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 16295275 16295275 G C SNP GMPR ENST00000259727 human ensembl 70_37 +1 known missense c.896 p.G299A 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 81 27 25.00 126 0 0.00 GMPS 8833 genome.wustl.edu 37 3 155632226 155632226 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 155632226 155632226 C T SNP GMPS ENST00000496455 human ensembl 70_37 +1 known missense c.905 p.S302F 1.000 pfam_NAD/GMP_synthase,pfam_tRNA-specific_2-thiouridylase pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 76 26 25.49 130 0 0.00 GMPS 8833 genome.wustl.edu 37 3 155654232 155654232 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 155654232 155654232 G A SNP GMPS ENST00000496455 human ensembl 70_37 +1 known missense c.1913 p.R638Q 1.000 pfam_GMP_synth_C pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 63 33 34.02 55 0 0.00 GNA11 2767 genome.wustl.edu 37 19 3110178 3110178 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 3110178 3110178 C G SNP GNA11 ENST00000078429 human ensembl 70_37 +1 known missense c.168 p.I56M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNA11 HGNC ENSG00000088256 8 6 42.86 34 0 0.00 GNA11 2767 genome.wustl.edu 37 19 3119049 3119049 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3119049 3119049 G A SNP GNA11 ENST00000078429 human ensembl 70_37 +1 known missense c.733 p.E245K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNA11 HGNC ENSG00000088256 38 18 32.14 40 0 0.00 GNA12 2768 genome.wustl.edu 37 7 2802452 2802452 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 2802452 2802452 C T SNP GNA12 ENST00000407653 human ensembl 70_37 -1 putative missense c.71 p.G24E 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su - no_errors GNA12 HGNC ENSG00000146535 33 20 37.74 48 0 0.00 GNA12 2768 genome.wustl.edu 37 7 2883556 2883556 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 2883556 2883556 G C SNP GNA12 ENST00000275364 human ensembl 70_37 -1 known missense c.240 p.I80M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA12 HGNC ENSG00000146535 54 27 33.33 65 0 0.00 GNA13 10672 genome.wustl.edu 37 17 63010459 63010459 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 63010459 63010459 G C SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known missense c.1050 p.I350M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha12 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC ENSG00000120063 61 9 12.86 71 0 0.00 GNA13 10672 genome.wustl.edu 37 17 63052540 63052540 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 63052540 63052540 C T SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known missense c.172 p.E58K 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC ENSG00000120063 99 18 15.38 78 0 0.00 GNA13 10672 genome.wustl.edu 37 17 63052601 63052601 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 63052601 63052601 G T SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known nonsense c.111 p.C37* 0.883 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC ENSG00000120063 31 4 11.43 49 0 0.00 GNA15 2769 genome.wustl.edu 37 19 3151814 3151814 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 3151814 3151814 G A SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.595 p.V199M 0.999 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 16 16 50.00 22 0 0.00 GNA15 2769 genome.wustl.edu 37 19 3157769 3157769 + Missense_Mutation SNP A A G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 3157769 3157769 A G SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.788 p.E263G 0.913 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 60 8 11.76 121 0 0.00 GNA15 2769 genome.wustl.edu 37 19 3162819 3162819 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 3162819 3162819 G C SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.927 p.K309N 0.953 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 45 8 15.09 64 0 0.00 GNA15 2769 genome.wustl.edu 37 19 3162874 3162874 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 3162874 3162874 G A SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.982 p.E328K 0.015 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 43 36 45.57 64 0 0.00 GNAI1 2770 genome.wustl.edu 37 7 79840295 79840295 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 79840295 79840295 G A SNP GNAI1 ENST00000351004 human ensembl 70_37 +1 known missense c.601 p.V201M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI1 HGNC ENSG00000127955 69 16 18.82 85 0 0.00 GNAI2 2771 genome.wustl.edu 37 3 50293634 50293634 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 50293634 50293634 G A SNP GNAI2 ENST00000313601 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI2 HGNC ENSG00000114353 14 4 22.22 24 0 0.00 GNAI2 2771 genome.wustl.edu 37 3 50296396 50296396 + RNA SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 50296396 50296396 G C SNP GNAI2 ENST00000491100 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors GNAI2 HGNC ENSG00000114353 23 11 32.35 29 0 0.00 GNAI3 2773 genome.wustl.edu 37 1 110125079 110125079 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 110125079 110125079 G A SNP GNAI3 ENST00000369851 human ensembl 70_37 +1 known missense c.482 p.R161K 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC ENSG00000065135 36 16 30.77 57 0 0.00 GNAI3 2773 genome.wustl.edu 37 1 110128858 110128858 + Missense_Mutation SNP A A G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 110128858 110128858 A G SNP GNAI3 ENST00000369851 human ensembl 70_37 +1 known missense c.611 p.Q204R 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC ENSG00000065135 32 19 37.25 40 0 0.00 GNAI3 2773 genome.wustl.edu 37 1 110128893 110128893 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 110128893 110128893 G A SNP GNAI3 ENST00000369851 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC ENSG00000065135 28 22 44.00 45 0 0.00 GNAL 2774 genome.wustl.edu 37 18 11753944 11753944 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 11753944 11753944 G T SNP GNAL ENST00000334049 human ensembl 70_37 +1 known missense c.624 p.Q208H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC ENSG00000141404 23 3 11.54 56 0 0.00 GNAL 2774 genome.wustl.edu 37 18 11876657 11876657 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 11876657 11876657 A C SNP GNAL ENST00000334049 human ensembl 70_37 +1 known missense c.1200 p.R400S 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC ENSG00000141404 54 6 10.00 89 0 0.00 GNAO1 2775 genome.wustl.edu 37 16 56370671 56370671 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 56370671 56370671 G C SNP GNAO1 ENST00000262493 human ensembl 70_37 +1 known missense c.622 p.E208Q 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 89 19 17.59 92 0 0.00 GNAQ 2776 genome.wustl.edu 37 9 80336364 80336364 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 80336364 80336364 C T SNP GNAQ ENST00000286548 human ensembl 70_37 -1 known missense c.955 p.D319N 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNAQ HGNC ENSG00000156052 33 5 12.82 31 0 0.00 GNAQ 2776 genome.wustl.edu 37 9 80409438 80409438 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 80409438 80409438 T C SNP GNAQ ENST00000286548 human ensembl 70_37 -1 known missense c.676 p.I226V 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNAQ HGNC ENSG00000156052 54 12 18.18 36 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57415168 57415168 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 57415168 57415168 C T SNP GNAS ENST00000313949 human ensembl 70_37 +1 known missense c.7 p.R3W 0.996 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 51 38 42.70 56 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57415400 57415400 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 57415400 57415400 C A SNP GNAS ENST00000313949 human ensembl 70_37 +1 known missense c.239 p.P80H 0.931 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 50 31 38.27 71 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57428722 57428722 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 57428722 57428722 C T SNP GNAS ENST00000306120 human ensembl 70_37 +1 putative missense c.212 p.S71L 0.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 31 20 39.22 27 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57429140 57429140 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 57429140 57429140 C G SNP GNAS ENST00000371100 human ensembl 70_37 +1 putative missense c.820 p.P274A 0.992 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 11 10 47.62 11 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 70_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 134 38 22.09 90 0 0.00 GNAS 2778 genome.wustl.edu 37 20 57485827 57485827 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 57485827 57485827 C G SNP GNAS ENST00000354359 human ensembl 70_37 +1 known missense c.1131 p.F377L 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 37 13 26.00 68 0 0.00 GNAT1 2779 genome.wustl.edu 37 3 50231257 50231257 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 50231257 50231257 G A SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known missense c.521 p.R174Q 0.973 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 7 32 82.05 60 0 0.00 GNAT1 2779 genome.wustl.edu 37 3 50231284 50231284 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 50231284 50231284 C T SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known missense c.548 p.T183M 0.991 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 11 8 42.11 12 0 0.00 GNAT1 2779 genome.wustl.edu 37 3 50232331 50232331 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 50232331 50232331 C T SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known silent c.996 p.F332 0.999 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 8 15 65.22 27 0 0.00 GNAT2 2780 genome.wustl.edu 37 1 110148667 110148667 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 110148667 110148667 G A SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known silent c.645 p.F215 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 35 7 16.67 46 0 0.00 GNAT2 2780 genome.wustl.edu 37 1 110148947 110148947 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 110148947 110148947 G C SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known silent c.573 p.V191 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 66 23 25.84 80 0 0.00 GNAT2 2780 genome.wustl.edu 37 1 110149024 110149024 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 110149024 110149024 C G SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known missense c.496 p.E166Q 0.215 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 59 34 36.56 69 0 0.00 GNAT3 346562 genome.wustl.edu 37 7 80087990 80087990 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 80087990 80087990 G C SNP GNAT3 ENST00000398291 human ensembl 70_37 -1 known missense c.1062 p.F354L 1.000 prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC ENSG00000214415 54 12 18.18 34 0 0.00 GNAT3 346562 genome.wustl.edu 37 7 80103615 80103615 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 80103615 80103615 G A SNP GNAT3 ENST00000398291 human ensembl 70_37 -1 known missense c.542 p.T181M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC ENSG00000214415 38 23 37.70 52 0 0.00 GNB1 2782 genome.wustl.edu 37 1 1736005 1736005 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 1736005 1736005 G C SNP GNB1 ENST00000378606 human ensembl 70_37 -1 known missense c.283 p.L95V 1.000 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC ENSG00000078369 24 8 25.00 34 0 0.00 GNB1L 54584 genome.wustl.edu 37 22 19776159 19776160 + RNA INS - - G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 19776159 19776160 - G INS GNB1L ENST00000460402 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors GNB1L HGNC ENSG00000185838 65 13 16.67 113 0 0.00 GNB1L 54584 genome.wustl.edu 37 22 19776198 19776198 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 19776198 19776198 G A SNP GNB1L ENST00000460402 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GNB1L HGNC ENSG00000185838 95 25 20.83 129 0 0.00 GNB1L 54584 genome.wustl.edu 37 22 19776256 19776256 + Silent SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 19776256 19776256 G T SNP GNB1L ENST00000329517 human ensembl 70_37 -1 known silent c.960 p.L320 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 70 36 33.96 126 0 0.00 GNB1L 54584 genome.wustl.edu 37 22 19799874 19799874 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 19799874 19799874 C G SNP GNB1L ENST00000329517 human ensembl 70_37 -1 known silent c.351 p.R117 0.917 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 34 18 34.62 51 0 0.00 GNB2 2783 genome.wustl.edu 37 7 100276365 100276365 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100276365 100276365 G A SNP GNB2 ENST00000303210 human ensembl 70_37 +1 known missense c.964 p.D322N 0.972 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 14 9 39.13 26 0 0.00 GNB3 2784 genome.wustl.edu 37 12 6950484 6950484 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 6950484 6950484 G A SNP GNB3 ENST00000229264 human ensembl 70_37 +1 known silent c.33 p.A11 0.337 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 72 23 24.21 90 0 0.00 GNB3 2784 genome.wustl.edu 37 12 6954849 6954849 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6954849 6954849 G A SNP GNB3 ENST00000229264 human ensembl 70_37 +1 known missense c.799 p.E267K 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 254 80 23.95 336 1 0.30 GNB5 10681 genome.wustl.edu 37 15 52416673 52416673 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52416673 52416673 G T SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known silent c.1173 p.L391 0.094 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 57 18 24.00 50 0 0.00 GNB5 10681 genome.wustl.edu 37 15 52418211 52418211 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 52418211 52418211 C A SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known nonsense c.943 p.E315* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 30 4 11.76 33 0 0.00 GNB5 10681 genome.wustl.edu 37 15 52427908 52427908 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 52427908 52427908 C G SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known missense c.673 p.E225Q 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 18 3 14.29 33 0 0.00 GNB5 10681 genome.wustl.edu 37 15 52446256 52446256 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 52446256 52446256 G A SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known missense c.256 p.R86W 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 28 11 28.21 43 0 0.00 GNB5 10681 genome.wustl.edu 37 15 52472036 52472036 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 52472036 52472036 G T SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known nonsense c.167 p.S56* 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 17 10 37.04 27 0 0.00 GNE 10020 genome.wustl.edu 37 9 36222893 36222893 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 36222893 36222893 G A SNP GNE ENST00000396594 human ensembl 70_37 -1 known missense c.1607 p.S536F 1.000 pfam_ROK pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 31 22 40.74 51 0 0.00 GNE 10020 genome.wustl.edu 37 9 36246250 36246250 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 36246250 36246250 G A SNP GNE ENST00000396594 human ensembl 70_37 -1 known missense c.487 p.H163Y 1.000 pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 25 30 54.55 31 0 0.00 GNE 10020 genome.wustl.edu 37 9 36249292 36249292 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36249292 36249292 C G SNP GNE ENST00000396594 human ensembl 70_37 -1 known missense c.154 p.D52H 1.000 tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 11 15 57.69 42 0 0.00 GNG2 54331 genome.wustl.edu 37 14 52344355 52344355 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 52344355 52344355 C G SNP GNG2 ENST00000556522 human ensembl 70_37 +1 known missense c.85 p.Q29E 0.971 NULL NULL - no_errors GNG2 HGNC ENSG00000186469 8 8 50.00 24 0 0.00 GNG5P2 347687 genome.wustl.edu 37 X 109590048 109590048 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 109590048 109590048 C T SNP GNG5P2 ENST00000372054 human ensembl 70_37 -1 known silent c.90 p.Q30 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG5P2 HGNC ENSG00000133136 61 22 26.51 95 0 0.00 GNG5P2 347687 genome.wustl.edu 37 X 109590054 109590054 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 109590054 109590054 A C SNP GNG5P2 ENST00000372054 human ensembl 70_37 -1 known silent c.84 p.V28 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG5P2 HGNC ENSG00000133136 64 21 24.71 99 0 0.00 GNGT1 2792 genome.wustl.edu 37 7 93540184 93540184 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 93540184 93540184 A G SNP GNGT1 ENST00000248572 human ensembl 70_37 +1 known missense c.179 p.D60G 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 5 2 28.57 13 0 0.00 GNL1 2794 genome.wustl.edu 37 6 30514892 30514892 + Missense_Mutation SNP C C T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 6 30514892 30514892 C T SNP GNL1 ENST00000376621 human ensembl 70_37 -1 known missense c.1438 p.E480K 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 4 38 90.48 30 0 0.00 GNL1 2794 genome.wustl.edu 37 6 30522370 30522370 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30522370 30522370 G A SNP GNL1 ENST00000376621 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 45 6 11.76 18 0 0.00 GNL1 2794 genome.wustl.edu 37 6 30522575 30522575 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30522575 30522575 G A SNP GNL1 ENST00000376621 human ensembl 70_37 -1 known missense c.494 p.S165F 0.996 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 93 23 19.83 155 1 0.64 GNL2 29889 genome.wustl.edu 37 1 38032562 38032562 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 38032562 38032562 C T SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known missense c.2090 p.R697H 1.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 75 22 22.68 65 0 0.00 GNL2 29889 genome.wustl.edu 37 1 38041233 38041233 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 38041233 38041233 G C SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known missense c.1106 p.S369C 1.000 pfam_GTP_binding_domain,prints_GTP_binding_domain pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 34 5 12.82 34 0 0.00 GNL2 29889 genome.wustl.edu 37 1 38061361 38061361 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 38061361 38061361 T A SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known silent c.63 p.P21 0.460 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 108 23 17.56 169 0 0.00 GNL3 26354 genome.wustl.edu 37 3 52723096 52723096 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 52723096 52723096 G A SNP GNL3 ENST00000418458 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_Gnl3_N_dom,pfam_GTP_binding_domain - no_errors GNL3 HGNC ENSG00000163938 47 13 21.67 118 1 0.84 GNL3L 54552 genome.wustl.edu 37 X 54578806 54578806 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 54578806 54578806 G C SNP GNL3L ENST00000336470 human ensembl 70_37 +1 known missense c.1263 p.M421I 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 24 13 35.14 98 0 0.00 GNMT 27232 genome.wustl.edu 37 6 42930548 42930548 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 42930548 42930548 C T SNP GNMT ENST00000372808 human ensembl 70_37 +1 known missense c.383 p.S128L 0.992 pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase - no_errors GNMT HGNC ENSG00000124713 66 9 12.00 63 0 0.00 GNN 253724 genome.wustl.edu 37 12 104238044 104238044 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 104238044 104238044 G T SNP GNN ENST00000548527 human ensembl 70_37 -1 known rna NULL NULL 0.083 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 15 12 44.44 17 0 0.00 GNN 253724 genome.wustl.edu 37 12 104255045 104255045 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 104255045 104255045 G A SNP GNN ENST00000548527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 26 13 33.33 45 0 0.00 GNN 253724 genome.wustl.edu 37 12 104283274 104283274 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 104283274 104283274 C T SNP GNN ENST00000548520 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 30 5 14.29 67 0 0.00 GNPAT 8443 genome.wustl.edu 37 1 231396396 231396396 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 231396396 231396396 G A SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.405 p.S135 0.296 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 31 8 20.51 28 0 0.00 GNPAT 8443 genome.wustl.edu 37 1 231402067 231402067 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 231402067 231402067 C T SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.969 p.S323 0.999 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 26 49 64.47 28 0 0.00 GNPAT 8443 genome.wustl.edu 37 1 231408083 231408083 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 231408083 231408083 C T SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.1548 p.F516 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 45 17 27.42 50 0 0.00 GNPAT 8443 genome.wustl.edu 37 1 231410860 231410860 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231410860 231410860 G A SNP GNPAT ENST00000469332 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GNPAT HGNC ENSG00000116906 10 14 58.33 17 0 0.00 GNPNAT1 64841 genome.wustl.edu 37 14 53250150 53250150 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 53250150 53250150 G T SNP GNPNAT1 ENST00000216410 human ensembl 70_37 -1 known missense c.208 p.Q70K 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 26 4 13.33 60 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102158230 102158230 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 102158230 102158230 G A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.2465 p.T822I 0.008 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 23 19 45.24 51 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102158356 102158356 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 102158356 102158356 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.2339 p.G780V 0.000 pfam_DMAP1-bd pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 122 38 23.75 145 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102159990 102159990 + Silent SNP T T A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 102159990 102159990 T A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known silent c.1491 p.G497 0.992 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 30 10 24.39 53 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102159991 102159991 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 102159991 102159991 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1490 p.G497V 0.992 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 29 10 25.00 52 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102160054 102160054 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 102160054 102160054 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1427 p.R476L 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 12 3 20.00 26 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102161817 102161817 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 102161817 102161817 G C SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1406 p.S469C 0.944 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 18 12 40.00 38 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102164324 102164324 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102164324 102164324 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.973 p.D325Y 1.000 pfam_DUF3184 pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 26 3 10.34 36 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102179808 102179808 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 102179808 102179808 A G SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.553 p.F185L 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 30 22 42.31 59 0 0.00 GNPTAB 79158 genome.wustl.edu 37 12 102183783 102183783 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 102183783 102183783 C T SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.256 p.D86N 0.999 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 48 15 23.81 45 0 0.00 GNPTG 84572 genome.wustl.edu 37 16 1412296 1412296 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 1412296 1412296 C T SNP GNPTG ENST00000204679 human ensembl 70_37 +1 known silent c.501 p.L167 0.179 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 86 13 13.13 88 0 0.00 GNPTG 84572 genome.wustl.edu 37 16 1412897 1412897 + Silent SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 1412897 1412897 G T SNP GNPTG ENST00000204679 human ensembl 70_37 +1 known silent c.813 p.T271 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 16 9 36.00 17 0 0.00 GNRH2 2797 genome.wustl.edu 37 20 3025090 3025090 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3025090 3025090 C G SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known silent c.30 p.L10 0.004 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 57 9 13.43 19 0 0.00 GNRH2 2797 genome.wustl.edu 37 20 3025090 3025090 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3025090 3025090 C G SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known silent c.30 p.L10 0.004 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 78 14 15.05 72 0 0.00 GNRH2 2797 genome.wustl.edu 37 20 3026354 3026354 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 3026354 3026354 C T SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known missense c.335 p.P112L 0.000 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 91 69 43.12 85 0 0.00 GNS 2799 genome.wustl.edu 37 12 65115473 65115473 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 65115473 65115473 C T SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1321 p.D441N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 108 56 34.15 149 0 0.00 GNS 2799 genome.wustl.edu 37 12 65115475 65115475 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 65115475 65115475 G T SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1319 p.P440Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 15 3 16.67 24 0 0.00 GNS 2799 genome.wustl.edu 37 12 65130862 65130862 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 65130862 65130862 C G SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1020 p.K340N 0.960 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 41 29 41.43 47 0 0.00 GNS 2799 genome.wustl.edu 37 12 65141672 65141672 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 65141672 65141672 G A SNP GNS ENST00000258145 human ensembl 70_37 -1 known silent c.279 p.P93 0.374 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 45 35 43.75 57 0 0.00 GNS 2799 genome.wustl.edu 37 12 65146511 65146511 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 65146511 65146511 G A SNP GNS ENST00000258145 human ensembl 70_37 -1 known silent c.219 p.L73 0.984 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 52 9 14.75 42 0 0.00 GOLGA1 2800 genome.wustl.edu 37 9 127640716 127640716 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 127640716 127640716 C T SNP GOLGA1 ENST00000475407 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors GOLGA1 HGNC ENSG00000136935 14 19 57.58 19 0 0.00 GOLGA1 2800 genome.wustl.edu 37 9 127642418 127642418 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 127642418 127642418 C G SNP GOLGA1 ENST00000475407 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GOLGA1 HGNC ENSG00000136935 1 6 85.71 9 0 0.00 GOLGA1 2800 genome.wustl.edu 37 9 127674285 127674285 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 127674285 127674285 C G SNP GOLGA1 ENST00000373555 human ensembl 70_37 -1 known missense c.864 p.E288D 0.976 superfamily_Prefoldin pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 64 41 39.05 78 0 0.00 GOLGA1 2800 genome.wustl.edu 37 9 127700957 127700957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 127700957 127700957 C G SNP GOLGA1 ENST00000373555 human ensembl 70_37 -1 known missense c.34 p.E12Q 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 42 33 43.42 66 0 0.00 GOLGA2 2801 genome.wustl.edu 37 9 131023839 131023839 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131023839 131023839 A C SNP GOLGA2 ENST00000421699 human ensembl 70_37 -1 known missense c.1145 p.V382G 0.996 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 91 38 29.46 114 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100550804 100550804 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 100550804 100550804 G C SNP GOLGA2P5 ENST00000397112 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 24 23 48.94 35 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100560379 100560379 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100560379 100560379 C T SNP GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 27 22 44.90 64 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100562865 100562865 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 100562865 100562865 C T SNP GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.385 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 13 7 35.00 40 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100562920 100562921 + RNA INS - - T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 100562920 100562921 - T INS GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 19 4 17.39 22 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100562920 100562921 + RNA INS - - T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 100562920 100562921 - T INS GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 18 5 21.74 15 0 0.00 GOLGA2P5 55592 genome.wustl.edu 37 12 100567160 100567160 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 100567160 100567160 C G SNP GOLGA2P5 ENST00000397112 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 52 24 31.58 78 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133353621 133353621 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 133353621 133353621 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.3778 p.E1260K 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 26 3 10.34 32 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133365775 133365775 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133365775 133365775 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known silent c.2649 p.L883 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 11 8 42.11 36 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133372557 133372557 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 133372557 133372557 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.2350 p.A784T 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 12 9 42.86 14 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133372579 133372579 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133372579 133372579 G T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known silent c.2328 p.I776 0.176 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 10 7 41.18 32 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133378543 133378543 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 133378543 133378543 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.1610 p.R537Q 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 65 40 38.10 27 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133383849 133383849 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133383849 133383849 C G SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.1204 p.E402Q 0.985 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 7 3 30.00 14 0 0.00 GOLGA3 2802 genome.wustl.edu 37 12 133384852 133384852 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 133384852 133384852 G C SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.803 p.S268C 0.011 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 21 16 43.24 34 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37284995 37284995 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 37284995 37284995 C T SNP GOLGA4 ENST00000419177 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 45 24 34.78 59 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37337603 37337603 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 37337603 37337603 G T SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.707 p.R236L 0.999 superfamily_Prefoldin pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 33 4 10.81 37 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37343796 37343796 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 37343796 37343796 G T SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known nonsense c.1207 p.E403* 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 9 3 25.00 31 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37360673 37360673 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 37360673 37360673 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.1533 p.M511I 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 8 12 60.00 23 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37360696 37360697 + RNA INS - - T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 37360696 37360697 - T INS GOLGA4 ENST00000435830 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 27 8 22.86 39 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37360697 37360697 + RNA DEL T T - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 37360697 37360697 T - DEL GOLGA4 ENST00000435830 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 36 6 14.29 34 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37365218 37365218 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 37365218 37365218 C A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.1841 p.T614K 0.974 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 18 4 18.18 43 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37365514 37365514 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 37365514 37365514 C G SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.2137 p.Q713E 0.067 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 42 7 14.29 28 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37366456 37366456 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 37366456 37366456 G C SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.3079 p.E1027Q 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 21 8 27.59 24 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37367213 37367213 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 37367213 37367213 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.3836 p.R1279K 0.036 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 13 4 23.53 20 0 0.00 GOLGA4 2803 genome.wustl.edu 37 3 37369055 37369055 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 37369055 37369055 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.5678 p.R1893K 0.009 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 9 6 40.00 21 0 0.00 GOLGA5 9950 genome.wustl.edu 37 14 93264171 93264171 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 93264171 93264171 C T SNP GOLGA5 ENST00000163416 human ensembl 70_37 +1 known missense c.389 p.S130L 1.000 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 26 12 30.77 35 0 0.00 GOLGA5 9950 genome.wustl.edu 37 14 93282695 93282695 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 93282695 93282695 G T SNP GOLGA5 ENST00000163416 human ensembl 70_37 +1 known nonsense c.1420 p.E474* 1.000 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 30 27 47.37 49 0 0.00 GOLGA6A 342096 genome.wustl.edu 37 15 74363798 74363798 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 74363798 74363798 G A SNP GOLGA6A ENST00000290438 human ensembl 70_37 -1 known silent c.1710 p.T570 0.990 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 38 9 19.15 20 0 0.00 GOLGA6B 55889 genome.wustl.edu 37 15 72954664 72954664 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 72954664 72954664 C T SNP GOLGA6B ENST00000421285 human ensembl 70_37 +1 known silent c.919 p.L307 0.993 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 67 29 30.21 111 0 0.00 GOLGA6C 653641 genome.wustl.edu 37 15 75557739 75557739 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 75557739 75557739 G A SNP GOLGA6C ENST00000300576 human ensembl 70_37 +1 known missense c.733 p.E245K 0.902 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 89 46 34.07 105 0 0.00 GOLGA6L1 283767 genome.wustl.edu 37 15 22743378 22743378 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 22743378 22743378 G A SNP GOLGA6L1 ENST00000316397 human ensembl 70_37 +1 known missense c.1763 p.R588Q 0.415 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 149 25 14.37 126 0 0.00 GOLGA6L10 647042 genome.wustl.edu 37 15 82637166 82637167 + Frame_Shift_Ins INS - - CCCTCTCC TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 82637166 82637167 - CCCTCTCC INS GOLGA6L10 ENST00000439287 human ensembl 70_37 -1 known frame_shift_ins c.920_919 p.E307fs 0.989:0.976 NULL NULL - no_errors GOLGA6L10 HGNC ENSG00000205281 6 3 33.33 9 0 0.00 GOLGA6L2 283685 genome.wustl.edu 37 15 23685081 23685081 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 23685081 23685081 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative silent c.2541 p.G847 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 77 17 17.89 29 0 0.00 GOLGA6L2 283685 genome.wustl.edu 37 15 23685325 23685326 + In_Frame_Ins INS - - CTG TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 23685325 23685326 - CTG INS GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative in_frame_ins c.2297_2296 p.766in_frame_insA 0.016:0.016 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 20 3 13.04 11 0 0.00 GOLGA6L2 283685 genome.wustl.edu 37 15 23685343 23685343 + Missense_Mutation SNP T T C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 23685343 23685343 T C SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.2279 p.E760G 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 14 6 30.00 18 0 0.00 GOLGA6L2 283685 genome.wustl.edu 37 15 23685649 23685649 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 23685649 23685649 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.1973 p.R658K 0.003 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 128 22 14.57 270 0 0.00 GOLGA6L2 283685 genome.wustl.edu 37 15 23685943 23685943 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 23685943 23685943 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.1679 p.G560E 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 48 9 15.52 39 0 0.00 GOLGA6L5 374650 genome.wustl.edu 37 15 85053254 85053254 + RNA SNP T T C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 85053254 85053254 T C SNP GOLGA6L5 ENST00000414190 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 18 4 18.18 26 0 0.00 GOLGA6L6 727832 genome.wustl.edu 37 15 20739623 20739623 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 20739623 20739623 C G SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.2127 p.E709D 0.984 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 31 14 31.11 62 0 0.00 GOLGA6L6 727832 genome.wustl.edu 37 15 20740076 20740076 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 20740076 20740076 C G SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.1674 p.K558N 0.130 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 227 41 15.30 184 0 0.00 GOLGA6L6 727832 genome.wustl.edu 37 15 20740454 20740454 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 20740454 20740454 C A SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.1296 p.M432I 0.728 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 40 10 20.00 20 0 0.00 GOLGA6L6 727832 genome.wustl.edu 37 15 20740459 20740461 + In_Frame_Del DEL TCG TCG - TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 15 20740459 20740461 TCG - DEL GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known in_frame_del c.1291_1289 p.AK430in_frame_delE 0.966:0.963:0.960 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 6 4 40.00 9 0 0.00 GOLGA6L7P 728310 genome.wustl.edu 37 15 29090373 29090373 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 29090373 29090373 C T SNP GOLGA6L7P ENST00000569815 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 5 4 44.44 17 0 0.00 GOLGA7B 401647 genome.wustl.edu 37 10 99625350 99625350 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 99625350 99625350 G C SNP GOLGA7B ENST00000370602 human ensembl 70_37 +1 known missense c.397 p.E133Q 1.000 NULL pfam_Golgin_A_7/ERF4 - no_errors GOLGA7B HGNC ENSG00000155265 14 13 48.15 30 0 0.00 GOLGA8A 23015 genome.wustl.edu 37 15 34673973 34673973 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 34673973 34673973 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.1628 p.R543Q 0.998 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 35 9 20.45 20 0 0.00 GOLGA8A 23015 genome.wustl.edu 37 15 34674006 34674006 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 34674006 34674006 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.1595 p.S532N 0.185 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 18 5 21.74 15 0 0.00 GOLGA8A 23015 genome.wustl.edu 37 15 34677517 34677517 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 34677517 34677517 G A SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.485 p.T162I 0.001 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 13 6 31.58 13 0 0.00 GOLGA8A 23015 genome.wustl.edu 37 15 34679062 34679062 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 34679062 34679062 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.139 p.D47N 0.103 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 205 46 18.33 291 1 0.34 GOLGA8B 440270 genome.wustl.edu 37 15 34820227 34820227 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 34820227 34820227 C T SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.1595 p.S532N 0.997 NULL NULL - no_errors GOLGA8B HGNC ENSG00000215252 1 2 66.67 10 0 0.00 GOLGA8B 440270 genome.wustl.edu 37 15 34820269 34820269 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 34820269 34820269 G A SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.1553 p.A518V 1.000 NULL NULL - no_errors GOLGA8B HGNC ENSG00000215252 1 3 75.00 8 0 0.00 GOLGA8B 440270 genome.wustl.edu 37 15 34825220 34825220 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 34825220 34825220 C G SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.202 p.E68Q 1.000 NULL NULL - no_errors GOLGA8B HGNC ENSG00000215252 8 36 81.82 48 0 0.00 GOLGA8B 440270 genome.wustl.edu 37 15 34844555 34844555 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 34844555 34844555 G A SNP GOLGA8B ENST00000562282 human ensembl 70_37 -1 putative rna NULL NULL 0.075 - - - no_errors GOLGA8B HGNC ENSG00000215252 17 7 29.17 14 0 0.00 GOLGA8DP 100132979 genome.wustl.edu 37 15 22709084 22709084 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 22709084 22709084 G A SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.891 - - - no_errors GOLGA8DP HGNC ENSG00000185182 83 17 16.83 56 0 0.00 GOLGA8DP 100132979 genome.wustl.edu 37 15 22709126 22709126 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 22709126 22709126 G C SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.301 - - - no_errors GOLGA8DP HGNC ENSG00000185182 30 19 38.78 65 0 0.00 GOLGA8DP 100132979 genome.wustl.edu 37 15 22709181 22709181 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 22709181 22709181 C T SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors GOLGA8DP HGNC ENSG00000185182 152 30 16.48 157 0 0.00 GOLGA8EP 390535 genome.wustl.edu 37 15 23445307 23445307 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 23445307 23445307 G A SNP GOLGA8EP ENST00000526079 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors GOLGA8EP HGNC ENSG00000175676 15 7 31.82 32 0 0.00 GOLGA8EP 390535 genome.wustl.edu 37 15 23445354 23445354 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23445354 23445354 C G SNP GOLGA8EP ENST00000526079 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors GOLGA8EP HGNC ENSG00000175676 46 7 13.21 56 0 0.00 GOLGA8F 100132565 genome.wustl.edu 37 15 28632828 28632828 + Missense_Mutation SNP A A T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 28632828 28632828 A T SNP GOLGA8F ENST00000526619 human ensembl 70_37 +1 known missense c.754 p.R252W 0.987 NULL NULL - no_errors GOLGA8F HGNC ENSG00000153684 670 83 11.01 721 0 0.00 GOLGA8G 283768 genome.wustl.edu 37 15 28769099 28769099 + Missense_Mutation SNP C C G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 28769099 28769099 C G SNP GOLGA8G ENST00000433304 human ensembl 70_37 -1 known missense c.743 p.R248T 0.987 NULL NULL - no_errors GOLGA8G HGNC ENSG00000183629 2 4 66.67 10 0 0.00 GOLGA8H 728498 genome.wustl.edu 37 15 30902077 30902077 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 30902077 30902077 G A SNP GOLGA8H ENST00000566740 human ensembl 70_37 +1 novel silent c.660 p.L220 0.009 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 54 10 15.62 58 0 0.00 GOLGA8H 728498 genome.wustl.edu 37 15 30902545 30902545 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 30902545 30902545 G A SNP GOLGA8H ENST00000566740 human ensembl 70_37 +1 novel missense c.827 p.R276Q 0.628 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 12 6 33.33 14 0 0.00 GOLGA8H 728498 genome.wustl.edu 37 15 30905994 30905994 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30905994 30905994 G A SNP GOLGA8H ENST00000566740 human ensembl 70_37 +1 novel missense c.1390 p.E464K 1.000 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 93 12 11.43 154 1 0.64 GOLGA8I 283796 genome.wustl.edu 37 15 23259270 23259270 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23259270 23259270 A G SNP GOLGA8I ENST00000450802 human ensembl 70_37 +1 known silent c.324 p.K108 0.243 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 58 10 14.71 91 0 0.00 GOLGA8I 283796 genome.wustl.edu 37 15 23265394 23265394 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 23265394 23265394 G A SNP GOLGA8I ENST00000450802 human ensembl 70_37 +1 known silent c.1737 p.V579 0.034 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 30 6 16.67 34 0 0.00 GOLGA8J 653073 genome.wustl.edu 37 15 30376974 30376974 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 30376974 30376974 T C SNP GOLGA8J ENST00000567927 human ensembl 70_37 +1 novel silent c.49 p.L17 0.007 NULL NULL - no_errors GOLGA8J HGNC ENSG00000179938 10 6 37.50 28 0 0.00 GOLGA8J 653073 genome.wustl.edu 37 15 30376977 30376977 + Missense_Mutation SNP A A C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 30376977 30376977 A C SNP GOLGA8J ENST00000567927 human ensembl 70_37 +1 novel missense c.52 p.K18Q 0.009 NULL NULL - no_errors GOLGA8J HGNC ENSG00000179938 19 7 26.92 21 0 0.00 GOLGA8J 653073 genome.wustl.edu 37 15 30381186 30381186 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 30381186 30381186 A G SNP GOLGA8J ENST00000341650 human ensembl 70_37 +1 known silent c.168 p.E56 0.000 NULL NULL - no_errors GOLGA8J HGNC ENSG00000179938 50 21 29.58 102 0 0.00 GOLGA8M 653720 genome.wustl.edu 37 15 28948511 28948511 + Missense_Mutation SNP T T C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 28948511 28948511 T C SNP GOLGA8M ENST00000563027 human ensembl 70_37 -1 novel missense c.1322 p.Q441R 0.001 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 1 3 75.00 14 0 0.00 GOLGA8M 653720 genome.wustl.edu 37 15 28950285 28950285 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 28950285 28950285 G T SNP GOLGA8M ENST00000340249 human ensembl 70_37 -1 known missense c.977 p.S326Y 0.002 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 161 123 43.31 96 0 0.00 GOLGA8M 653720 genome.wustl.edu 37 15 28951305 28951305 + Silent SNP T T C TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 15 28951305 28951305 T C SNP GOLGA8M ENST00000340249 human ensembl 70_37 -1 known silent c.588 p.V196 0.572 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 18 14 43.75 12 0 0.00 GOLGA8O 728047 genome.wustl.edu 37 15 32738028 32738028 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 32738028 32738028 G A SNP GOLGA8O ENST00000509311 human ensembl 70_37 -1 novel silent c.1440 p.F480 1.000 NULL NULL - no_errors GOLGA8O HGNC ENSG00000206127 41 18 30.51 89 0 0.00 GOLGA8O 728047 genome.wustl.edu 37 15 32743123 32743123 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 32743123 32743123 C A SNP GOLGA8O ENST00000509311 human ensembl 70_37 -1 novel missense c.582 p.K194N 0.095 NULL NULL - no_errors GOLGA8O HGNC ENSG00000206127 16 59 78.67 51 0 0.00 GOLGA8R 101059918 genome.wustl.edu 37 15 30700159 30700159 + Missense_Mutation SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 30700159 30700159 A G SNP GOLGA8R ENST00000544495 human ensembl 70_37 -1 known missense c.346 p.W116R 0.002 NULL NULL - no_errors GOLGA8R HGNC ENSG00000186399 11 8 42.11 13 0 0.00 GOLGA8R 101059918 genome.wustl.edu 37 15 30700168 30700169 + In_Frame_Ins INS - - TTG TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 30700168 30700169 - TTG INS GOLGA8R ENST00000544495 human ensembl 70_37 -1 known in_frame_ins c.337_336 p.112in_frame_insQ 0.000:0.000 NULL NULL - no_errors GOLGA8R HGNC ENSG00000186399 12 3 20.00 11 0 0.00 GOLGA8S 653061 genome.wustl.edu 37 15 23605405 23605405 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 23605405 23605405 G A SNP GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel silent c.618 p.T206 0.000 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 172 53 23.56 277 0 0.00 GOLGA8S 653061 genome.wustl.edu 37 15 23605405 23605405 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 23605405 23605405 G A SNP GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel silent c.618 p.T206 0.000 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 32 20 38.46 30 0 0.00 GOLGA8S 653061 genome.wustl.edu 37 15 23606542 23606542 + Frame_Shift_Del DEL T T - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 23606542 23606542 T - DEL GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel frame_shift_del c.1049 p.P351fs 0.007 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 82 21 20.39 111 0 0.00 GOLGA8S 653061 genome.wustl.edu 37 15 23609673 23609673 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 23609673 23609673 G A SNP GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel silent c.1449 p.Q483 1.000 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 18 15 45.45 38 0 0.00 GOLGA8T 653075 genome.wustl.edu 37 15 30435872 30435872 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 30435872 30435872 C T SNP GOLGA8T ENST00000569052 human ensembl 70_37 +1 novel missense c.1264 p.L422F 0.648 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 76 37 32.74 116 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121383432 121383432 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 121383432 121383432 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known silent c.9675 p.V3225 0.885 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 34 8 19.05 26 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121409629 121409629 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121409629 121409629 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8567 p.R2856Q 0.998 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 32 29 47.54 98 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121409639 121409639 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121409639 121409639 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8557 p.E2853Q 0.470 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 154 33 17.65 119 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121409846 121409846 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 121409846 121409846 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8350 p.L2784V 0.663 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 41 22 34.92 53 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121409879 121409879 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 121409879 121409879 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8317 p.E2773Q 0.999 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 109 17 13.39 56 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121409951 121409951 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 121409951 121409951 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8245 p.H2749D 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 34 22 39.29 41 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121410101 121410101 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 121410101 121410101 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8095 p.E2699K 0.999 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 17 10 37.04 58 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121410890 121410890 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 121410890 121410890 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.7306 p.D2436H 0.227 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 152 53 25.85 210 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121412667 121412667 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 121412667 121412667 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.6688 p.E2230Q 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 135 37 21.51 152 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121413301 121413301 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121413301 121413301 T C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known silent c.6054 p.Q2018 0.821 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 12 6 33.33 22 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121414091 121414091 + Missense_Mutation SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 121414091 121414091 T G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.5264 p.E1755A 1.000 smart_Leu_zip_homeo superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 168 95 36.12 252 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121414503 121414503 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 121414503 121414503 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.4852 p.L1618V 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 261 114 30.32 231 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121415989 121415989 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121415989 121415989 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.3366 p.I1122M 0.999 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 75 31 28.70 47 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121416703 121416703 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 121416703 121416703 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.2652 p.E884D 0.974 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 48 8 14.29 52 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121416739 121416739 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121416739 121416739 T A SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.2616 p.E872D 0.984 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 23 9 28.12 65 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121417372 121417372 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121417372 121417372 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1983 p.L661F 0.003 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 61 16 20.78 38 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121417605 121417605 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 121417605 121417605 T C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1750 p.R584G 0.177 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 31 5 13.89 45 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121433719 121433719 + Nonsense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 121433719 121433719 C A SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known nonsense c.1378 p.E460* 0.284 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 99 29 22.66 83 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121435699 121435699 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121435699 121435699 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1158 p.K386N 0.735 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 54 28 34.15 33 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121445852 121445852 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 121445852 121445852 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.439 p.E147Q 0.873 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 132 49 27.07 77 0 0.00 GOLGB1 2804 genome.wustl.edu 37 3 121449758 121449758 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121449758 121449758 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.61 p.D21N 0.977 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 43 11 20.37 40 0 0.00 GOLM1 51280 genome.wustl.edu 37 9 88692354 88692354 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 88692354 88692354 G A SNP GOLM1 ENST00000388711 human ensembl 70_37 -1 known silent c.282 p.S94 0.175 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 47 17 26.56 98 0 0.00 GOLM1 51280 genome.wustl.edu 37 9 88692498 88692498 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 88692498 88692498 G A SNP GOLM1 ENST00000388711 human ensembl 70_37 -1 known silent c.138 p.I46 0.049 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 31 17 35.42 27 0 0.00 GOLPH3 64083 genome.wustl.edu 37 5 32126046 32126046 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 32126046 32126046 G T SNP GOLPH3 ENST00000499354 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors GOLPH3 HGNC ENSG00000113384 44 7 13.73 19 0 0.00 GOLPH3 64083 genome.wustl.edu 37 5 32136351 32136351 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 32136351 32136351 C T SNP GOLPH3 ENST00000499354 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors GOLPH3 HGNC ENSG00000113384 100 23 18.55 41 0 0.00 GOLPH3L 55204 genome.wustl.edu 37 1 150667193 150667193 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150667193 150667193 G C SNP GOLPH3L ENST00000271732 human ensembl 70_37 -1 known missense c.122 p.S41C 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3L HGNC ENSG00000143457 65 13 16.67 48 0 0.00 GOLT1B 51026 genome.wustl.edu 37 12 21668697 21668697 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 21668697 21668697 G C SNP GOLT1B ENST00000535593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors GOLT1B HGNC ENSG00000111711 54 16 22.86 50 0 0.00 GOLT1B 51026 genome.wustl.edu 37 12 21668831 21668831 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 21668831 21668831 G A SNP GOLT1B ENST00000535593 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors GOLT1B HGNC ENSG00000111711 5 4 44.44 11 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155733122 155733122 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733122 155733122 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.4707 p.E1569 0.998 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 67 37 35.58 98 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155733142 155733142 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733142 155733142 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4687 p.E1563K 0.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 63 39 38.24 101 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155733290 155733290 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733290 155733290 T A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4539 p.E1513D 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 53 34 39.08 81 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155734823 155734823 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155734823 155734823 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4441 p.E1481Q 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 40 48 54.55 78 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155735069 155735069 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155735069 155735069 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4195 p.E1399K 0.052 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 179 34 15.96 134 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155735213 155735213 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735213 155735213 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4051 p.E1351Q 0.879 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 58 12 16.90 46 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155735229 155735229 + Silent SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735229 155735229 A G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.4035 p.C1345 0.005 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 56 15 21.13 45 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155735273 155735273 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735273 155735273 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.3991 p.E1331Q 0.372 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 46 15 24.59 53 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155735537 155735537 + Nonsense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 155735537 155735537 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.3727 p.Q1243* 0.951 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 56 21 27.27 60 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155744901 155744901 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 155744901 155744901 G C SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.2242 p.Q748E 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 47 8 14.55 78 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155744925 155744925 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 155744925 155744925 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.2218 p.H740Y 0.994 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 44 13 22.81 81 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155753850 155753850 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155753850 155753850 C A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.1819 p.E607* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 36 31 46.27 31 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155753850 155753850 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155753850 155753850 C A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.1819 p.E607* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 63 32 33.68 83 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155754392 155754392 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155754392 155754392 C G SNP GON4L ENST00000467009 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GON4L HGNC ENSG00000116580 37 28 43.08 36 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155755146 155755146 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155755146 155755146 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.1767 p.L589 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 109 53 32.52 145 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155755146 155755146 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155755146 155755146 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.1767 p.L589 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 46 37 44.58 42 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155785975 155785975 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 155785975 155785975 G C SNP GON4L ENST00000471341 human ensembl 70_37 -1 known rna NULL NULL 0.414 - - - no_errors GON4L HGNC ENSG00000116580 111 38 25.50 124 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155823271 155823271 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155823271 155823271 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.301 p.Q101* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 50 24 32.00 50 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155823273 155823273 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155823273 155823273 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.299 p.S100F 0.972 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 52 25 32.47 53 0 0.00 GON4L 54856 genome.wustl.edu 37 1 155823435 155823435 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 155823435 155823435 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.137 p.S46L 0.020 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 92 32 25.81 142 1 0.70 GOPC 57120 genome.wustl.edu 37 6 117888189 117888189 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 6 117888189 117888189 C T SNP GOPC ENST00000368498 human ensembl 70_37 -1 known silent c.1086 p.E362 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 23 6 20.69 48 0 0.00 GORASP1 64689 genome.wustl.edu 37 3 39144311 39144312 + Frame_Shift_Ins INS - - GCTT TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 39144311 39144312 - GCTT INS GORASP1 ENST00000319283 human ensembl 70_37 -1 known frame_shift_ins c.206_205 p.L69fs 1.000:1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 60 24 28.57 59 0 0.00 GORASP2 26003 genome.wustl.edu 37 2 171786164 171786164 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 171786164 171786164 C G SNP GORASP2 ENST00000497928 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GORASP2 HGNC ENSG00000115806 82 32 28.07 68 0 0.00 GORASP2 26003 genome.wustl.edu 37 2 171786399 171786399 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 171786399 171786399 G C SNP GORASP2 ENST00000454751 human ensembl 70_37 +1 known missense c.212 p.R71P 0.000 NULL NULL - no_errors GORASP2 HGNC ENSG00000115806 49 19 27.54 56 0 0.00 GOSR2 9570 genome.wustl.edu 37 17 45102045 45102045 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 45102045 45102045 G A SNP GOSR2 ENST00000439730 human ensembl 70_37 +1 known splice_site c.677-1 e8-1 1.000 - - - no_errors GOSR2 HGNC ENSG00000108433 121 27 18.24 142 0 0.00 GOT1L1 137362 genome.wustl.edu 37 8 37794817 37794817 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 37794817 37794817 T C SNP GOT1L1 ENST00000307599 human ensembl 70_37 -1 known missense c.497 p.D166G 0.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 34 9 20.93 51 0 0.00 GOT2 2806 genome.wustl.edu 37 16 58752559 58752559 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 58752559 58752559 G C SNP GOT2 ENST00000245206 human ensembl 70_37 -1 known missense c.469 p.L157V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT2 HGNC ENSG00000125166 88 22 20.00 121 1 0.82 GP1BA 2811 genome.wustl.edu 37 17 4836334 4836334 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4836334 4836334 C G SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.435 p.L145 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 156 70 30.97 192 0 0.00 GP1BA 2811 genome.wustl.edu 37 17 4836613 4836613 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 4836613 4836613 C T SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.714 p.D238 0.169 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 75 39 34.21 59 0 0.00 GP1BA 2811 genome.wustl.edu 37 17 4837790 4837790 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 4837790 4837790 C T SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.1891 p.L631 0.984 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 19 41 68.33 67 0 0.00 GP2 2813 genome.wustl.edu 37 16 20334257 20334257 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 20334257 20334257 C T SNP GP2 ENST00000381362 human ensembl 70_37 -1 known missense c.589 p.E197K 0.018 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 27 7 20.59 43 0 0.00 GP5 2814 genome.wustl.edu 37 3 194117596 194117596 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 194117596 194117596 G A SNP GP5 ENST00000323007 human ensembl 70_37 -1 known silent c.1416 p.C472 0.360 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 12 7 36.84 13 0 0.00 GP5 2814 genome.wustl.edu 37 3 194118225 194118225 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 194118225 194118225 G C SNP GP5 ENST00000323007 human ensembl 70_37 -1 known missense c.787 p.L263V 0.013 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 40 6 13.04 44 0 0.00 GP6 51206 genome.wustl.edu 37 19 55543646 55543646 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 55543646 55543646 C T SNP GP6 ENST00000310373 human ensembl 70_37 -1 known silent c.186 p.L62 0.032 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 66 11 14.29 56 0 0.00 GP9 2815 genome.wustl.edu 37 3 128780619 128780619 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 128780619 128780619 A G SNP GP9 ENST00000307395 human ensembl 70_37 +1 known missense c.37 p.T13A 0.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 13 5 27.78 25 0 0.00 GPAA1 8733 genome.wustl.edu 37 8 145138198 145138198 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 145138198 145138198 G T SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known missense c.246 p.K82N 1.000 pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 72 15 17.24 83 0 0.00 GPAA1 8733 genome.wustl.edu 37 8 145138904 145138904 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 145138904 145138904 G A SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 34 4 10.53 40 0 0.00 GPAA1 8733 genome.wustl.edu 37 8 145139176 145139176 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 145139176 145139176 C T SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known silent c.756 p.L252 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 57 26 31.33 91 0 0.00 GPAA1 8733 genome.wustl.edu 37 8 145139652 145139652 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 145139652 145139652 C G SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known silent c.1038 p.L346 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 42 14 25.00 51 0 0.00 GPAM 57678 genome.wustl.edu 37 10 113915685 113915685 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 113915685 113915685 C T SNP GPAM ENST00000348367 human ensembl 70_37 -1 known missense c.2248 p.E750K 0.996 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 35 25 41.67 97 0 0.00 GPAM 57678 genome.wustl.edu 37 10 113928264 113928264 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 113928264 113928264 G A SNP GPAM ENST00000348367 human ensembl 70_37 -1 known nonsense c.913 p.R305* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 6 4 40.00 26 0 0.00 GPANK1 7918 genome.wustl.edu 37 6 31631984 31631984 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31631984 31631984 C T SNP GPANK1 ENST00000375893 human ensembl 70_37 -1 known missense c.272 p.R91K 0.505 NULL pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 12 7 36.84 14 0 0.00 GPAT2 150763 genome.wustl.edu 37 2 96698050 96698050 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96698050 96698050 G A SNP GPAT2 ENST00000359548 human ensembl 70_37 -1 known nonsense c.58 p.R20* 0.012 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 52 11 17.46 78 0 0.00 GPATCH1 55094 genome.wustl.edu 37 19 33587166 33587166 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 33587166 33587166 C T SNP GPATCH1 ENST00000170564 human ensembl 70_37 +1 known silent c.666 p.V222 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 118 82 41.00 198 0 0.00 GPATCH1 55094 genome.wustl.edu 37 19 33617532 33617532 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 33617532 33617532 A C SNP GPATCH1 ENST00000170564 human ensembl 70_37 +1 known missense c.2658 p.Q886H 0.975 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 20 12 37.50 20 0 0.00 GPATCH2 55105 genome.wustl.edu 37 1 217688174 217688174 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 217688174 217688174 G T SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.1156 p.H386N 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 43 11 20.37 49 0 0.00 GPATCH2 55105 genome.wustl.edu 37 1 217688182 217688182 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 217688182 217688182 G A SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.1148 p.P383L 0.991 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 40 10 20.00 50 0 0.00 GPATCH2 55105 genome.wustl.edu 37 1 217688211 217688211 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 217688211 217688211 C A SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known silent c.1119 p.V373 0.370 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 35 4 10.00 53 0 0.00 GPATCH2 55105 genome.wustl.edu 37 1 217787495 217787495 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 217787495 217787495 C T SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.823 p.E275K 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 158 28 15.05 146 0 0.00 GPATCH2L 55668 genome.wustl.edu 37 14 76620866 76620866 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 76620866 76620866 C A SNP GPATCH2L ENST00000261530 human ensembl 70_37 +1 known missense c.160 p.L54M 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 21 4 16.00 33 0 0.00 GPATCH2L 55668 genome.wustl.edu 37 14 76621155 76621155 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 14 76621155 76621155 C T SNP GPATCH2L ENST00000261530 human ensembl 70_37 +1 known missense c.449 p.S150L 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 49 17 25.76 39 0 0.00 GPATCH3 63906 genome.wustl.edu 37 1 27218951 27218951 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 27218951 27218951 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.1312 p.E438Q 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 18 17 48.57 48 0 0.00 GPATCH3 63906 genome.wustl.edu 37 1 27223812 27223812 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 27223812 27223812 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.856 p.E286Q 0.914 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 244 42 14.69 221 0 0.00 GPATCH3 63906 genome.wustl.edu 37 1 27223845 27223845 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27223845 27223845 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.823 p.E275Q 0.100 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 51 27 34.62 71 0 0.00 GPATCH3 63906 genome.wustl.edu 37 1 27223845 27223845 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27223845 27223845 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.823 p.E275Q 0.100 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 49 27 35.53 54 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42475272 42475272 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 42475272 42475272 G A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known silent c.4173 p.I1391 0.991 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 26 6 18.75 48 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42475866 42475866 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42475866 42475866 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.3579 p.F1193L 0.998 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 17 23 57.50 45 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42477228 42477228 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 42477228 42477228 G A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known silent c.2217 p.G739 0.998 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 57 24 29.63 89 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42477649 42477649 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42477649 42477649 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known nonsense c.1796 p.S599* 0.110 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 140 44 23.91 132 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42478508 42478508 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42478508 42478508 C T SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.937 p.E313K 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 25 19 43.18 23 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42478741 42478741 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42478741 42478741 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known nonsense c.704 p.S235* 0.936 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 43 18 29.51 50 0 0.00 GPATCH8 23131 genome.wustl.edu 37 17 42501730 42501730 + Missense_Mutation SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 42501730 42501730 T A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.479 p.H160L 1.000 pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2 pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 45 38 45.78 72 0 0.00 GPBAR1 151306 genome.wustl.edu 37 2 219128094 219128094 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 219128094 219128094 G A SNP GPBAR1 ENST00000479077 human ensembl 70_37 +1 known missense c.647 p.R216Q 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPBAR1 HGNC ENSG00000179921 22 3 11.54 32 0 0.00 GPBP1 65056 genome.wustl.edu 37 5 56542249 56542249 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 56542249 56542249 A C SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.661 p.N221H 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 18 7 28.00 44 0 0.00 GPBP1 65056 genome.wustl.edu 37 5 56542956 56542956 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56542956 56542956 C T SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.778 p.H260Y 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 38 29 43.28 55 0 0.00 GPBP1 65056 genome.wustl.edu 37 5 56557074 56557074 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 56557074 56557074 G C SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.1288 p.D430H 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 124 22 14.86 163 0 0.00 GPBP1L1 60313 genome.wustl.edu 37 1 46124624 46124624 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46124624 46124624 G C SNP GPBP1L1 ENST00000495616 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 34 16 32.00 39 0 0.00 GPC1 2817 genome.wustl.edu 37 2 241404942 241404942 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 241404942 241404942 G A SNP GPC1 ENST00000264039 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 18 4 18.18 11 0 0.00 GPC1 2817 genome.wustl.edu 37 2 241405038 241405038 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 241405038 241405038 G T SNP GPC1 ENST00000264039 human ensembl 70_37 +1 known missense c.1417 p.G473C 0.999 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 22 4 15.38 38 0 0.00 GPC2 221914 genome.wustl.edu 37 7 99767912 99767912 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 99767912 99767912 G A SNP GPC2 ENST00000292377 human ensembl 70_37 -1 known missense c.1681 p.H561Y 0.034 NULL pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 59 18 23.38 98 0 0.00 GPC2 221914 genome.wustl.edu 37 7 99773202 99773202 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 7 99773202 99773202 C T SNP GPC2 ENST00000292377 human ensembl 70_37 -1 known missense c.641 p.R214H 1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 46 13 22.03 52 0 0.00 GPC2 221914 genome.wustl.edu 37 7 99774886 99774886 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99774886 99774886 G A SNP GPC2 ENST00000480087 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPC2 HGNC ENSG00000213420 42 15 26.32 27 0 0.00 GPC3 2719 genome.wustl.edu 37 X 132730622 132730622 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 132730622 132730622 C T SNP GPC3 ENST00000394299 human ensembl 70_37 -1 known silent c.1488 p.L496 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 34 16 32.00 45 0 0.00 GPC3 2719 genome.wustl.edu 37 X 132833993 132833993 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 132833993 132833993 G A SNP GPC3 ENST00000394299 human ensembl 70_37 -1 known missense c.1165 p.L389F 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 115 22 16.06 80 0 0.00 GPC4 2239 genome.wustl.edu 37 X 132548981 132548981 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 132548981 132548981 C T SNP GPC4 ENST00000370828 human ensembl 70_37 -1 known missense c.13 p.G5S 0.081 NULL pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 25 16 39.02 29 0 0.00 GPC5 2262 genome.wustl.edu 37 13 92101146 92101146 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 92101146 92101146 C A SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.295 p.L99I 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 31 17 35.42 83 0 0.00 GPC5 2262 genome.wustl.edu 37 13 92345909 92345909 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 92345909 92345909 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.794 p.A265V 0.251 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 21 8 27.59 24 0 0.00 GPC5 2262 genome.wustl.edu 37 13 92380901 92380901 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 92380901 92380901 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.1136 p.T379M 0.992 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 17 9 34.62 24 0 0.00 GPC5 2262 genome.wustl.edu 37 13 92797125 92797125 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 13 92797125 92797125 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.1444 p.L482F 0.297 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 52 35 40.23 93 0 0.00 GPC5 2262 genome.wustl.edu 37 13 93518569 93518569 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 93518569 93518569 G A SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known silent c.1596 p.K532 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 29 18 38.30 105 0 0.00 GPC6 10082 genome.wustl.edu 37 13 94197569 94197569 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 13 94197569 94197569 G C SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 119 14 10.53 109 0 0.00 GPC6 10082 genome.wustl.edu 37 13 94958240 94958240 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 94958240 94958240 C T SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known nonsense c.1015 p.Q339* 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 34 14 29.17 38 0 0.00 GPC6 10082 genome.wustl.edu 37 13 95055328 95055328 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 95055328 95055328 G A SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known missense c.1525 p.E509K 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 54 7 11.29 59 0 0.00 GPD1L 23171 genome.wustl.edu 37 3 32200396 32200396 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 32200396 32200396 G T SNP GPD1L ENST00000282541 human ensembl 70_37 +1 known missense c.647 p.C216F 1.000 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 34 4 10.53 49 0 0.00 GPD1L 23171 genome.wustl.edu 37 3 32207342 32207342 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 32207342 32207342 C T SNP GPD1L ENST00000282541 human ensembl 70_37 +1 known silent c.996 p.Y332 0.463 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 47 6 11.32 93 0 0.00 GPER 2852 genome.wustl.edu 37 7 1131452 1131452 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 1131452 1131452 G A SNP GPER ENST00000297469 human ensembl 70_37 +1 known missense c.88 p.E30K 0.074 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER HGNC ENSG00000164850 17 9 33.33 45 0 0.00 GPER 2852 genome.wustl.edu 37 7 1131504 1131504 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 1131504 1131504 G T SNP GPER ENST00000297469 human ensembl 70_37 +1 known missense c.140 p.G47V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER HGNC ENSG00000164850 49 15 23.44 40 0 0.00 GPHN 10243 genome.wustl.edu 37 14 66976012 66976012 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 14 66976012 66976012 C G SNP GPHN ENST00000556020 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors GPHN HGNC ENSG00000171723 34 18 34.62 35 0 0.00 GPI 2821 genome.wustl.edu 37 19 34857702 34857702 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 34857702 34857702 C T SNP GPI ENST00000586425 human ensembl 70_37 +1 known missense c.184 p.R62C 0.891 NULL NULL - no_errors GPI HGNC ENSG00000105220 24 23 48.94 44 0 0.00 GPI 2821 genome.wustl.edu 37 19 34857712 34857712 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 34857712 34857712 G T SNP GPI ENST00000415930 human ensembl 70_37 +1 known missense c.355 p.A119S 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 39 11 22.00 40 0 0.00 GPI 2821 genome.wustl.edu 37 19 34859566 34859566 + Missense_Mutation SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 34859566 34859566 G C SNP GPI ENST00000415930 human ensembl 70_37 +1 known missense c.478 p.E160Q 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 42 22 34.38 55 0 0.00 GPI 2821 genome.wustl.edu 37 19 34859589 34859589 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 34859589 34859589 G A SNP GPI ENST00000415930 human ensembl 70_37 +1 known silent c.501 p.K167 1.000 pfam_G6P_Isomerase,prints_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 42 17 28.81 52 0 0.00 GPIHBP1 338328 genome.wustl.edu 37 8 144295729 144295729 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144295729 144295729 G C SNP GPIHBP1 ENST00000330824 human ensembl 70_37 +1 known missense c.85 p.E29Q 0.006 NULL pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 28 27 49.09 49 0 0.00 GPKOW 27238 genome.wustl.edu 37 X 48972640 48972640 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 48972640 48972640 G A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known silent c.951 p.L317 0.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 102 24 19.05 129 0 0.00 GPKOW 27238 genome.wustl.edu 37 X 48973411 48973411 + Nonsense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 48973411 48973411 C A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known nonsense c.886 p.E296* 1.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 59 14 19.18 68 0 0.00 GPKOW 27238 genome.wustl.edu 37 X 48976099 48976099 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 48976099 48976099 C T SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known missense c.525 p.M175I 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 47 6 11.32 58 0 0.00 GPKOW 27238 genome.wustl.edu 37 X 48976168 48976168 + Splice_Site SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 48976168 48976168 C A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known splice_site c.457-1 e4-1 0.130 - - - no_errors GPKOW HGNC ENSG00000068394 37 10 21.28 30 0 0.00 GPKOW 27238 genome.wustl.edu 37 X 48979986 48979986 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 48979986 48979986 C T SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known silent c.87 p.R29 0.956 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 36 12 25.00 82 0 0.00 GPLD1 2822 genome.wustl.edu 37 6 24447152 24447152 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 24447152 24447152 G A SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known silent c.1734 p.S578 0.884 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 50 25 33.33 55 0 0.00 GPLD1 2822 genome.wustl.edu 37 6 24456815 24456815 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 24456815 24456815 C T SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known missense c.1059 p.M353I 0.006 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 27 29 51.79 62 0 0.00 GPLD1 2822 genome.wustl.edu 37 6 24486350 24486350 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 24486350 24486350 C T SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known missense c.106 p.A36T 1.000 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 18 6 25.00 40 0 0.00 GPM6A 2823 genome.wustl.edu 37 4 176561306 176561306 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 4 176561306 176561306 C T SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known missense c.658 p.G220R 1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 87 11 11.22 106 0 0.00 GPM6A 2823 genome.wustl.edu 37 4 176594981 176594981 + Missense_Mutation SNP G G T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 176594981 176594981 G T SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known missense c.237 p.D79E 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 19 3 13.64 34 0 0.00 GPM6B 2824 genome.wustl.edu 37 X 13803802 13803802 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 13803802 13803802 C T SNP GPM6B ENST00000316715 human ensembl 70_37 -1 known missense c.307 p.V103M 0.534 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 82 13 13.68 75 0 0.00 GPN1 11321 genome.wustl.edu 37 2 27852242 27852242 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 27852242 27852242 G T SNP GPN1 ENST00000407583 human ensembl 70_37 +1 putative missense c.8 p.G3V 0.003 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom - no_errors GPN1 HGNC ENSG00000198522 32 4 11.11 32 0 0.00 GPN1 11321 genome.wustl.edu 37 2 27870730 27870730 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 27870730 27870730 C T SNP GPN1 ENST00000264718 human ensembl 70_37 +1 known missense c.1001 p.S334F 1.000 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 78 15 16.13 102 0 0.00 GPN2 54707 genome.wustl.edu 37 1 27216479 27216479 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 27216479 27216479 C G SNP GPN2 ENST00000374135 human ensembl 70_37 -1 known missense c.109 p.G37R 1.000 pfam_Uncharacterised_ATP-bd pfam_Uncharacterised_ATP-bd - no_errors GPN2 HGNC ENSG00000142751 30 6 16.67 30 0 0.00 GPN3 51184 genome.wustl.edu 37 12 110906383 110906383 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 110906383 110906383 C T SNP GPN3 ENST00000543199 human ensembl 70_37 -1 known missense c.59 p.C20Y 0.006 NULL pfam_Uncharacterised_ATP-bd - no_errors GPN3 HGNC ENSG00000111231 49 15 23.44 28 0 0.00 GPR101 83550 genome.wustl.edu 37 X 136112351 136112351 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 136112351 136112351 C T SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.825 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 45 13 22.41 45 0 0.00 GPR101 83550 genome.wustl.edu 37 X 136113007 136113007 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136113007 136113007 C G SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known missense c.827 p.R276T 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 94 39 29.32 137 1 0.72 GPR101 83550 genome.wustl.edu 37 X 136113039 136113039 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 136113039 136113039 C T SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known silent c.795 p.Q265 0.404 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 104 47 31.13 169 0 0.00 GPR107 57720 genome.wustl.edu 37 9 132862907 132862907 + Splice_Site SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 132862907 132862907 G A SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known splice_site c.940-1 e11-1 1.000 - - - no_errors GPR107 HGNC ENSG00000148358 30 6 16.67 29 0 0.00 GPR107 57720 genome.wustl.edu 37 9 132890943 132890943 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 132890943 132890943 G C SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known missense c.1609 p.V537L 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain - no_errors GPR107 HGNC ENSG00000148358 46 16 25.81 111 0 0.00 GPR107 57720 genome.wustl.edu 37 9 132897326 132897326 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 132897326 132897326 G A SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known missense c.1729 p.E577K 1.000 NULL pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain - no_errors GPR107 HGNC ENSG00000148358 44 12 21.43 50 0 0.00 GPR110 266977 genome.wustl.edu 37 6 46967927 46967927 + RNA SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 46967927 46967927 G C SNP GPR110 ENST00000449332 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR110 HGNC ENSG00000153292 17 12 41.38 39 0 0.00 GPR110 266977 genome.wustl.edu 37 6 46967979 46967979 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 46967979 46967979 G C SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known missense c.2713 p.Q905E 0.974 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 17 16 48.48 37 0 0.00 GPR110 266977 genome.wustl.edu 37 6 46967979 46967979 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 46967979 46967979 G A SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known nonsense c.2713 p.Q905* 0.974 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 28 14 33.33 33 0 0.00 GPR110 266977 genome.wustl.edu 37 6 46988506 46988506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 46988506 46988506 C G SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known missense c.572 p.R191T 0.006 pfam_SEA pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 57 14 19.72 45 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47645599 47645599 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 47645599 47645599 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.297 p.E99 0.913 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 28 17 37.78 89 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47646846 47646846 + Silent SNP T T C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 47646846 47646846 T C SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.447 p.T149 0.195 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 42 15 26.32 113 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47649467 47649467 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 47649467 47649467 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.1172 p.R391K 0.005 pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 23 5 17.86 27 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47649621 47649621 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 47649621 47649621 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.1326 p.E442 0.006 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 16 6 27.27 20 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47650137 47650137 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 47650137 47650137 C T SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.1842 p.I614 0.775 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 15 14 48.28 24 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47650408 47650408 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 47650408 47650408 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2113 p.E705K 0.044 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 33 10 23.26 27 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47650411 47650411 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 47650411 47650411 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2116 p.D706N 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 33 12 26.67 25 0 0.00 GPR111 222611 genome.wustl.edu 37 6 47650411 47650411 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 47650411 47650411 G T SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2116 p.D706Y 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 6 4 40.00 15 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135391004 135391004 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 135391004 135391004 C T SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.68 p.S23L 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 28 47 62.67 43 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135405122 135405122 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 135405122 135405122 G C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.256 p.E86Q 0.842 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 25 7 21.88 32 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135405383 135405383 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135405383 135405383 A C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.517 p.S173R 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 12 3 20.00 33 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135426995 135426995 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 X 135426995 135426995 C G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.1130 p.S377C 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 24 3 11.11 22 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135428590 135428590 + Missense_Mutation SNP A A T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 135428590 135428590 A T SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.2725 p.S909C 0.216 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 154 100 39.37 212 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135429208 135429208 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 135429208 135429208 A G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.3343 p.R1115G 0.040 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 156 27 14.75 145 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135430288 135430288 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 135430288 135430288 A C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.4423 p.N1475H 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 40 8 16.33 34 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135431359 135431359 + Missense_Mutation SNP T T A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 135431359 135431359 T A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.5494 p.S1832T 0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 54 28 34.15 63 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135431678 135431678 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 135431678 135431678 C T SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.5813 p.S1938L 0.023 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 91 14 13.33 64 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135435503 135435503 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135435503 135435503 C A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.6830 p.S2277Y 0.653 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 22 17 43.59 57 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135480160 135480160 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 135480160 135480160 C G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.8305 p.H2769D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 68 18 20.93 92 0 0.00 GPR112 139378 genome.wustl.edu 37 X 135488008 135488008 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 135488008 135488008 G A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.8812 p.D2938N 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 43 25 36.76 65 0 0.00 GPR113 165082 genome.wustl.edu 37 2 26532840 26532840 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26532840 26532840 G A SNP GPR113 ENST00000311519 human ensembl 70_37 -1 putative missense c.3212 p.S1071L 0.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 11 11 50.00 34 0 0.00 GPR113 165082 genome.wustl.edu 37 2 26532887 26532887 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26532887 26532887 G A SNP GPR113 ENST00000311519 human ensembl 70_37 -1 putative silent c.3165 p.L1055 0.001 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 20 8 28.57 35 0 0.00 GPR113 165082 genome.wustl.edu 37 2 26534373 26534373 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 26534373 26534373 G T SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known silent c.1626 p.A542 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 27 4 12.90 33 0 0.00 GPR113 165082 genome.wustl.edu 37 2 26534593 26534593 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 26534593 26534593 G A SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known missense c.1406 p.S469L 0.001 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 27 16 37.21 23 0 0.00 GPR113 165082 genome.wustl.edu 37 2 26534708 26534708 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 26534708 26534708 G A SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known missense c.1291 p.R431W 0.036 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 37 14 27.45 27 0 0.00 GPR114 221188 genome.wustl.edu 37 16 57601501 57601501 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57601501 57601501 C T SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known silent c.819 p.F273 0.696 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 54 18 25.00 74 0 0.00 GPR114 221188 genome.wustl.edu 37 16 57604363 57604363 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57604363 57604363 C G SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1124 p.S375C 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 30 17 36.17 33 0 0.00 GPR114 221188 genome.wustl.edu 37 16 57608854 57608854 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 57608854 57608854 G A SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1336 p.D446N 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 11 12 52.17 25 0 0.00 GPR114 221188 genome.wustl.edu 37 16 57609400 57609400 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57609400 57609400 G A SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1537 p.E513K 0.029 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 18 26 59.09 41 0 0.00 GPR114 221188 genome.wustl.edu 37 16 57624556 57624556 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 57624556 57624556 G A SNP GPR114 ENST00000569839 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors GPR114 HGNC ENSG00000159618 81 23 22.12 94 0 0.00 GPR115 221393 genome.wustl.edu 37 6 47680153 47680153 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 47680153 47680153 G T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known missense c.532 p.D178Y 0.322 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 25 10 28.57 36 0 0.00 GPR115 221393 genome.wustl.edu 37 6 47681717 47681717 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 47681717 47681717 C T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known missense c.907 p.H303Y 0.132 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 23 8 25.81 27 0 0.00 GPR115 221393 genome.wustl.edu 37 6 47682098 47682098 + Nonsense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 47682098 47682098 G T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known nonsense c.1288 p.E430* 0.000 pfam_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 73 51 40.80 94 0 0.00 GPR116 221395 genome.wustl.edu 37 6 46827113 46827113 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 46827113 46827113 G T SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.2527 p.P843T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 67 37 35.58 151 0 0.00 GPR116 221395 genome.wustl.edu 37 6 46828610 46828610 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 46828610 46828610 G C SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.2221 p.Q741E 0.990 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 89 23 20.54 120 0 0.00 GPR116 221395 genome.wustl.edu 37 6 46851983 46851983 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 46851983 46851983 G C SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.354 p.I118M 0.150 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 15 8 34.78 45 0 0.00 GPR116 221395 genome.wustl.edu 37 6 46867796 46867796 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 46867796 46867796 C A SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.127 p.G43C 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 44 12 21.43 58 0 0.00 GPR123 84435 genome.wustl.edu 37 10 134916234 134916234 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 134916234 134916234 A G SNP GPR123 ENST00000392607 human ensembl 70_37 +1 novel missense c.289 p.T97A 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 17 11 39.29 70 0 0.00 GPR123 84435 genome.wustl.edu 37 10 134941990 134941990 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 134941990 134941990 C T SNP GPR123 ENST00000392606 human ensembl 70_37 +1 putative missense c.370 p.R124W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 12 3 20.00 9 0 0.00 GPR123 84435 genome.wustl.edu 37 10 134942343 134942343 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 134942343 134942343 G A SNP GPR123 ENST00000392606 human ensembl 70_37 +1 putative silent c.723 p.A241 0.053 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 13 7 35.00 19 0 0.00 GPR124 25960 genome.wustl.edu 37 8 37686464 37686464 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 37686464 37686464 G A SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known missense c.397 p.E133K 0.982 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 27 13 32.50 35 0 0.00 GPR124 25960 genome.wustl.edu 37 8 37691313 37691313 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 37691313 37691313 G C SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known missense c.1404 p.Q468H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 44 14 24.14 23 0 0.00 GPR124 25960 genome.wustl.edu 37 8 37696479 37696479 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 37696479 37696479 G C SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known silent c.2265 p.L755 1.000 pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 36 21 36.84 55 0 0.00 GPR124 25960 genome.wustl.edu 37 8 37697140 37697140 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 37697140 37697140 G A SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known silent c.2511 p.A837 0.459 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 28 13 31.71 44 0 0.00 GPR125 166647 genome.wustl.edu 37 4 22403111 22403111 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 22403111 22403111 G A SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known silent c.2424 p.T808 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 20 6 23.08 28 0 0.00 GPR125 166647 genome.wustl.edu 37 4 22415240 22415240 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 4 22415240 22415240 C T SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known silent c.2007 p.V669 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 53 29 35.37 85 0 0.00 GPR125 166647 genome.wustl.edu 37 4 22437053 22437053 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 22437053 22437053 G A SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known nonsense c.1324 p.R442* 0.990 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 42 6 12.50 39 0 0.00 GPR126 57211 genome.wustl.edu 37 6 142691547 142691547 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 142691547 142691547 C G SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known nonsense c.686 p.S229* 0.002 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 19 8 29.63 23 0 0.00 GPR126 57211 genome.wustl.edu 37 6 142691670 142691670 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 142691670 142691670 G C SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.809 p.R270T 0.899 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 24 4 14.29 42 0 0.00 GPR126 57211 genome.wustl.edu 37 6 142703096 142703096 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 142703096 142703096 C G SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.1078 p.L360V 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 29 25 46.30 46 0 0.00 GPR126 57211 genome.wustl.edu 37 6 142737195 142737195 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 142737195 142737195 G T SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.2932 p.G978C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 41 8 16.33 46 0 0.00 GPR126 57211 genome.wustl.edu 37 6 142737195 142737195 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 142737195 142737195 G T SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.2932 p.G978C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 63 10 13.70 97 0 0.00 GPR128 84873 genome.wustl.edu 37 3 100364821 100364821 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 100364821 100364821 C T SNP GPR128 ENST00000273352 human ensembl 70_37 +1 known nonsense c.979 p.Q327* 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 21 11 34.38 19 0 0.00 GPR128 84873 genome.wustl.edu 37 3 100413635 100413635 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 100413635 100413635 G A SNP GPR128 ENST00000273352 human ensembl 70_37 +1 known silent c.2184 p.Q728 0.840 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 65 15 18.75 90 0 0.00 GPR132 29933 genome.wustl.edu 37 14 105517706 105517706 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 14 105517706 105517706 G C SNP GPR132 ENST00000329797 human ensembl 70_37 -1 known silent c.768 p.A256 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR132 HGNC ENSG00000183484 16 22 57.89 48 0 0.00 GPR132 29933 genome.wustl.edu 37 14 105518019 105518019 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105518019 105518019 C T SNP GPR132 ENST00000329797 human ensembl 70_37 -1 known missense c.455 p.G152D 0.230 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR132 HGNC ENSG00000183484 14 7 33.33 41 0 0.00 GPR133 283383 genome.wustl.edu 37 12 131471836 131471836 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 131471836 131471836 C T SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known silent c.687 p.I229 1.000 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 33 7 17.50 68 0 0.00 GPR133 283383 genome.wustl.edu 37 12 131476909 131476909 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 131476909 131476909 C G SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known missense c.938 p.S313W 0.905 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 39 7 15.22 52 0 0.00 GPR133 283383 genome.wustl.edu 37 12 131487803 131487803 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 131487803 131487803 G C SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known missense c.1100 p.G367A 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 34 32 48.48 82 0 0.00 GPR133 283383 genome.wustl.edu 37 12 131623878 131623878 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 131623878 131623878 C A SNP GPR133 ENST00000540207 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPR133 HGNC ENSG00000111452 8 16 66.67 12 0 0.00 GPR137 56834 genome.wustl.edu 37 11 64055225 64055225 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 64055225 64055225 C T SNP GPR137 ENST00000313074 human ensembl 70_37 +1 known missense c.440 p.S147L 1.000 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 39 7 15.22 91 0 0.00 GPR137 56834 genome.wustl.edu 37 11 64055563 64055563 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 64055563 64055563 G A SNP GPR137 ENST00000313074 human ensembl 70_37 +1 known silent c.660 p.A220 0.006 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 18 8 30.77 33 0 0.00 GPR137B 7107 genome.wustl.edu 37 1 236341882 236341882 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 236341882 236341882 C G SNP GPR137B ENST00000366592 human ensembl 70_37 +1 known missense c.633 p.I211M 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 181 25 12.14 167 0 0.00 GPR137C 283554 genome.wustl.edu 37 14 53066913 53066913 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 53066913 53066913 G A SNP GPR137C ENST00000321662 human ensembl 70_37 +1 known missense c.571 p.D191N 1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 42 9 17.65 67 0 0.00 GPR137C 283554 genome.wustl.edu 37 14 53098933 53098933 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 53098933 53098933 C G SNP GPR137C ENST00000321662 human ensembl 70_37 +1 known missense c.773 p.S258C 1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 36 6 13.95 33 0 0.00 GPR139 124274 genome.wustl.edu 37 16 20043656 20043656 + Missense_Mutation SNP T T C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 20043656 20043656 T C SNP GPR139 ENST00000570682 human ensembl 70_37 -1 known missense c.463 p.T155A 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR139 HGNC ENSG00000180269 107 32 23.02 93 0 0.00 GPR141 353345 genome.wustl.edu 37 7 37780111 37780111 + Missense_Mutation SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 37780111 37780111 T C SNP GPR141 ENST00000334425 human ensembl 70_37 +1 known missense c.116 p.L39P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 60 39 39.39 53 0 0.00 GPR142 350383 genome.wustl.edu 37 17 72365731 72365731 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 72365731 72365731 G A SNP GPR142 ENST00000585308 human ensembl 70_37 +1 known missense c.368 p.G123E 0.062 NULL NULL - no_errors GPR142 HGNC ENSG00000257008 39 11 22.00 31 0 0.00 GPR142 350383 genome.wustl.edu 37 17 72368270 72368270 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 72368270 72368270 G C SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known missense c.920 p.R307T 0.841 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 9 19 67.86 27 0 0.00 GPR142 350383 genome.wustl.edu 37 17 72368270 72368270 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72368270 72368270 G C SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known missense c.920 p.R307T 0.841 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 10 5 33.33 27 0 0.00 GPR142 350383 genome.wustl.edu 37 17 72368289 72368289 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72368289 72368289 C G SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known silent c.939 p.L313 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 7 7 50.00 31 0 0.00 GPR143 4935 genome.wustl.edu 37 X 9693818 9693818 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 9693818 9693818 C G SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known missense c.1243 p.D415H 0.000 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 46 30 39.47 37 0 0.00 GPR143 4935 genome.wustl.edu 37 X 9727434 9727434 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 9727434 9727434 G A SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known silent c.453 p.F151 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 32 17 34.69 68 0 0.00 GPR143 4935 genome.wustl.edu 37 X 9727434 9727434 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 9727434 9727434 G A SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known silent c.453 p.F151 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 42 7 14.29 38 0 0.00 GPR144 347088 genome.wustl.edu 37 9 127217404 127217404 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 127217404 127217404 G A SNP GPR144 ENST00000334810 human ensembl 70_37 +1 known missense c.1447 p.E483K 0.017 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 30 21 41.18 55 0 0.00 GPR144 347088 genome.wustl.edu 37 9 127237855 127237855 + Silent SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 127237855 127237855 G C SNP GPR144 ENST00000334810 human ensembl 70_37 +1 known silent c.2727 p.R909 0.750 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 25 13 34.21 39 0 0.00 GPR146 115330 genome.wustl.edu 37 7 1097783 1097783 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 1097783 1097783 C T SNP GPR146 ENST00000297468 human ensembl 70_37 +1 known missense c.632 p.S211F 0.368 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 15 21 58.33 29 0 0.00 GPR148 344561 genome.wustl.edu 37 2 131487317 131487317 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 131487317 131487317 G A SNP GPR148 ENST00000309926 human ensembl 70_37 +1 known missense c.593 p.G198E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 55 9 14.06 87 0 0.00 GPR149 344758 genome.wustl.edu 37 3 154139158 154139158 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 154139158 154139158 C T SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.1293 p.M431I 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 12 10 45.45 23 0 0.00 GPR149 344758 genome.wustl.edu 37 3 154145322 154145322 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 154145322 154145322 G A SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.1157 p.A386V 0.153 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 33 52 60.47 62 0 0.00 GPR149 344758 genome.wustl.edu 37 3 154147176 154147176 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 154147176 154147176 C T SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.229 p.D77N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 66 20 23.26 14 0 0.00 GPR15 2838 genome.wustl.edu 37 3 98251163 98251163 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 98251163 98251163 C G SNP GPR15 ENST00000284311 human ensembl 70_37 +1 known missense c.286 p.L96V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 23 21 47.73 58 0 0.00 GPR151 134391 genome.wustl.edu 37 5 145895133 145895133 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 145895133 145895133 C T SNP GPR151 ENST00000311104 human ensembl 70_37 -1 known missense c.544 p.E182K 0.799 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 31 25 44.64 76 0 0.00 GPR152 390212 genome.wustl.edu 37 11 67219209 67219209 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67219209 67219209 C T SNP GPR152 ENST00000312457 human ensembl 70_37 -1 known silent c.987 p.E329 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 78 54 40.91 89 0 0.00 GPR152 390212 genome.wustl.edu 37 11 67219821 67219821 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 67219821 67219821 G C SNP GPR152 ENST00000312457 human ensembl 70_37 -1 known silent c.375 p.L125 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 92 38 29.23 78 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6310673 6310673 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 6310673 6310673 C T SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.991 p.E331K 1.000 prints_GPCR_153 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 12 8 40.00 26 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6311456 6311456 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6311456 6311456 G C SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.921 p.L307 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 9 9 50.00 39 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6311556 6311556 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6311556 6311556 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.821 p.S274L 0.985 pfam_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 9 3 25.00 16 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6313808 6313808 + Silent SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 6313808 6313808 G T SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.756 p.I252 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 31 16 34.04 35 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6314644 6314644 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 6314644 6314644 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.322 p.R108C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 128 31 19.38 250 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6314904 6314904 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 6314904 6314904 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.62 p.S21F 1.000 prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 10 7 41.18 22 0 0.00 GPR153 387509 genome.wustl.edu 37 1 6314906 6314906 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6314906 6314906 G C SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.60 p.L20 1.000 prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 12 6 31.58 37 0 0.00 GPR155 151556 genome.wustl.edu 37 2 175311387 175311387 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 175311387 175311387 C T SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known silent c.1965 p.L655 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 37 24 39.34 53 0 0.00 GPR155 151556 genome.wustl.edu 37 2 175330601 175330601 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 175330601 175330601 C G SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known missense c.1296 p.W432C 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 56 8 12.50 64 0 0.00 GPR155 151556 genome.wustl.edu 37 2 175338010 175338010 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 175338010 175338010 G A SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known silent c.543 p.N181 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 31 32 50.79 57 0 0.00 GPR156 165829 genome.wustl.edu 37 3 119886581 119886581 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 119886581 119886581 G A SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.1743 p.F581 0.036 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 39 29 42.65 77 0 0.00 GPR156 165829 genome.wustl.edu 37 3 119886955 119886955 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 119886955 119886955 C G SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known missense c.1369 p.E457Q 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 87 13 13.00 84 0 0.00 GPR156 165829 genome.wustl.edu 37 3 119892198 119892198 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 119892198 119892198 C T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.1053 p.P351 0.004 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 114 47 29.19 92 0 0.00 GPR156 165829 genome.wustl.edu 37 3 119900017 119900017 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119900017 119900017 G T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.888 p.I296 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 18 8 30.77 39 0 0.00 GPR156 165829 genome.wustl.edu 37 3 119962888 119962888 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 119962888 119962888 C T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known missense c.58 p.D20N 0.910 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 59 24 28.92 51 0 0.00 GPR158 57512 genome.wustl.edu 37 10 25464455 25464455 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 25464455 25464455 C T SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known nonsense c.106 p.R36* 0.042 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 70 17 19.32 109 0 0.00 GPR158 57512 genome.wustl.edu 37 10 25883238 25883238 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25883238 25883238 G T SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known missense c.1910 p.R637I 0.027 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 14 16 53.33 45 0 0.00 GPR158 57512 genome.wustl.edu 37 10 25887399 25887399 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25887399 25887399 T G SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known silent c.2844 p.S948 0.001 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 8 6 42.86 15 0 0.00 GPR161 23432 genome.wustl.edu 37 1 168066279 168066279 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 168066279 168066279 G A SNP GPR161 ENST00000537209 human ensembl 70_37 -1 known missense c.626 p.T209M 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 29 13 30.95 33 0 0.00 GPR162 27239 genome.wustl.edu 37 12 6933901 6933901 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 6933901 6933901 C G SNP GPR162 ENST00000311268 human ensembl 70_37 +1 known silent c.837 p.L279 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 18 21 53.85 47 0 0.00 GPR17 2840 genome.wustl.edu 37 2 128409331 128409331 + RNA SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 2 128409331 128409331 C T SNP GPR17 ENST00000486700 human ensembl 70_37 +1 known rna NULL NULL 0.230 - - - no_errors GPR17 HGNC ENSG00000144230 43 16 27.12 62 0 0.00 GPR17 2840 genome.wustl.edu 37 2 128409567 128409567 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 128409567 128409567 C T SNP GPR17 ENST00000486700 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GPR17 HGNC ENSG00000144230 22 26 54.17 48 0 0.00 GPR171 29909 genome.wustl.edu 37 3 150916599 150916599 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 150916599 150916599 G A SNP GPR171 ENST00000309180 human ensembl 70_37 -1 known missense c.575 p.S192L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR171 HGNC ENSG00000174946 35 19 35.19 55 0 0.00 GPR173 54328 genome.wustl.edu 37 X 53106076 53106076 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 53106076 53106076 C G SNP GPR173 ENST00000332582 human ensembl 70_37 +1 known missense c.273 p.F91L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 44 7 13.73 46 0 0.00 GPR173 54328 genome.wustl.edu 37 X 53106338 53106338 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 53106338 53106338 C T SNP GPR173 ENST00000332582 human ensembl 70_37 +1 known missense c.535 p.R179C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 38 12 24.00 60 0 0.00 GPR173 54328 genome.wustl.edu 37 X 53106806 53106806 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 53106806 53106806 G A SNP GPR173 ENST00000332582 human ensembl 70_37 +1 known missense c.1003 p.V335I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 22 14 38.89 31 0 0.00 GPR174 84636 genome.wustl.edu 37 X 78426874 78426874 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 78426874 78426874 T G SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known missense c.370 p.F124V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 91 17 15.74 98 0 0.00 GPR174 84636 genome.wustl.edu 37 X 78426933 78426933 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 78426933 78426933 G A SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known silent c.429 p.L143 0.803 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 26 12 31.58 48 0 0.00 GPR174 84636 genome.wustl.edu 37 X 78426971 78426971 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 78426971 78426971 G C SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known missense c.467 p.R156T 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 67 10 12.99 60 0 0.00 GPR176 11245 genome.wustl.edu 37 15 40093710 40093710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 40093710 40093710 C G SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known missense c.1171 p.E391Q 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 32 15 31.91 24 0 0.00 GPR176 11245 genome.wustl.edu 37 15 40093815 40093815 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 40093815 40093815 C T SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known missense c.1066 p.E356K 0.983 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 91 41 31.06 103 0 0.00 GPR176 11245 genome.wustl.edu 37 15 40099335 40099335 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 40099335 40099335 G A SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known silent c.297 p.I99 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 183 99 35.11 298 1 0.33 GPR179 440435 genome.wustl.edu 37 17 36482459 36482459 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 36482459 36482459 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.6993 p.Q2331 0.236 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 63 18 22.22 69 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36482659 36482659 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 36482659 36482659 C A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known nonsense c.6793 p.E2265* 0.064 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 26 26 50.00 91 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36484561 36484561 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 36484561 36484561 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.4891 p.D1631N 0.013 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 31 13 29.55 65 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36484589 36484589 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 36484589 36484589 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.4863 p.E1621 0.683 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 33 14 29.79 75 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36484666 36484666 + Nonsense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 36484666 36484666 C A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known nonsense c.4786 p.E1596* 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 42 5 10.64 39 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36485781 36485781 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 36485781 36485781 T C SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3671 p.E1224G 0.023 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 55 25 31.25 124 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36485791 36485791 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 36485791 36485791 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3661 p.G1221R 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 83 74 47.13 155 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36485974 36485974 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 36485974 36485974 G A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3478 p.H1160Y 0.630 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 227 76 25.00 356 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36486721 36486721 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 36486721 36486721 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.2731 p.V911M 0.001 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 58 21 26.58 85 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36486800 36486800 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 36486800 36486800 C G SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.2652 p.R884 0.779 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 45 20 30.77 83 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36489893 36489893 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 36489893 36489893 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.1813 p.D605N 0.997 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 72 17 19.10 111 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36491017 36491017 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 36491017 36491017 C A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.1544 p.R515L 0.923 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 38 14 26.92 26 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36498924 36498924 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 36498924 36498924 G A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.749 p.S250F 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 110 41 27.15 238 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36499124 36499124 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 36499124 36499124 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.549 p.V183 0.035 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 37 30 44.78 42 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36499245 36499245 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 36499245 36499245 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.428 p.R143K 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 54 22 28.95 47 0 0.00 GPR179 440435 genome.wustl.edu 37 17 36499400 36499400 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 36499400 36499400 G C SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.273 p.L91 0.994 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 70 12 14.63 31 0 0.00 GPR18 2841 genome.wustl.edu 37 13 99907834 99907834 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 99907834 99907834 C G SNP GPR18 ENST00000340807 human ensembl 70_37 -1 known missense c.293 p.G98A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR18 HGNC ENSG00000125245 6 14 70.00 39 0 0.00 GPR180 160897 genome.wustl.edu 37 13 95264620 95264620 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 95264620 95264620 G C SNP GPR180 ENST00000376958 human ensembl 70_37 +1 known missense c.481 p.D161H 0.997 pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 30 12 28.57 34 0 0.00 GPR183 1880 genome.wustl.edu 37 13 99948184 99948184 + Missense_Mutation SNP A A C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 99948184 99948184 A C SNP GPR183 ENST00000376414 human ensembl 70_37 -1 known missense c.216 p.N72K 0.796 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR183 HGNC ENSG00000169508 101 13 11.40 131 0 0.00 GPR19 2842 genome.wustl.edu 37 12 12815011 12815011 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 12815011 12815011 G C SNP GPR19 ENST00000332427 human ensembl 70_37 -1 known silent c.372 p.L124 0.945 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 54 27 33.33 59 0 0.00 GPR20 2843 genome.wustl.edu 37 8 142367298 142367298 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 142367298 142367298 G A SNP GPR20 ENST00000377741 human ensembl 70_37 -1 known silent c.726 p.L242 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 7 3 27.27 15 0 0.00 GPR20 2843 genome.wustl.edu 37 8 142367933 142367933 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 142367933 142367933 C T SNP GPR20 ENST00000377741 human ensembl 70_37 -1 known missense c.91 p.E31K 0.809 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 107 34 24.11 99 0 0.00 GPR21 2844 genome.wustl.edu 37 9 125796960 125796960 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 125796960 125796960 A C SNP GPR21 ENST00000373642 human ensembl 70_37 +1 known missense c.115 p.T39P 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 38 7 15.56 55 0 0.00 GPR21 2844 genome.wustl.edu 37 9 125797555 125797555 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 125797555 125797555 G T SNP GPR21 ENST00000373642 human ensembl 70_37 +1 known missense c.710 p.G237V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 91 34 27.20 148 0 0.00 GPR25 2848 genome.wustl.edu 37 1 200843211 200843211 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 200843211 200843211 G A SNP GPR25 ENST00000304244 human ensembl 70_37 +1 known missense c.1046 p.C349Y 0.319 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 3 7 70.00 8 0 0.00 GPR26 2849 genome.wustl.edu 37 10 125426344 125426344 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 125426344 125426344 G A SNP GPR26 ENST00000284674 human ensembl 70_37 +1 known missense c.421 p.A141T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 14 6 30.00 26 0 0.00 GPR3 2827 genome.wustl.edu 37 1 27720315 27720315 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 27720315 27720315 G A SNP GPR3 ENST00000374024 human ensembl 70_37 +1 known missense c.13 p.A5T 0.878 prints_GPR3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn - no_errors GPR3 HGNC ENSG00000181773 95 14 12.84 67 0 0.00 GPR3 2827 genome.wustl.edu 37 1 27720959 27720959 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 27720959 27720959 C T SNP GPR3 ENST00000374024 human ensembl 70_37 +1 known silent c.657 p.I219 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn - no_errors GPR3 HGNC ENSG00000181773 49 21 30.00 41 0 0.00 GPR31 2853 genome.wustl.edu 37 6 167570420 167570420 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 167570420 167570420 G C SNP GPR31 ENST00000366834 human ensembl 70_37 -1 known silent c.900 p.L300 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 48 25 34.25 56 0 0.00 GPR31 2853 genome.wustl.edu 37 6 167570453 167570453 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 167570453 167570453 G A SNP GPR31 ENST00000366834 human ensembl 70_37 -1 known silent c.867 p.F289 0.211 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 27 5 15.62 39 0 0.00 GPR32 2854 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 70_37 +1 known missense c.994 p.T332P 0.018 prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC ENSG00000142511 72 9 11.11 60 0 0.00 GPR34 2857 genome.wustl.edu 37 X 41555200 41555200 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 41555200 41555200 T G SNP GPR34 ENST00000378138 human ensembl 70_37 +1 known missense c.314 p.F105C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR34 HGNC ENSG00000171659 26 16 38.10 61 0 0.00 GPR35 2859 genome.wustl.edu 37 2 241569402 241569402 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 241569402 241569402 C T SNP GPR35 ENST00000438013 human ensembl 70_37 +1 known silent c.126 p.S42 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 21 6 21.43 30 0 0.00 GPR35 2859 genome.wustl.edu 37 2 241570131 241570131 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 241570131 241570131 C G SNP GPR35 ENST00000438013 human ensembl 70_37 +1 known missense c.855 p.I285M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 169 35 17.16 238 0 0.00 GPR37 2861 genome.wustl.edu 37 7 124386638 124386638 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 124386638 124386638 G T SNP GPR37 ENST00000303921 human ensembl 70_37 -1 known missense c.1783 p.P595T 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 33 4 10.81 61 0 0.00 GPR37 2861 genome.wustl.edu 37 7 124404620 124404620 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 124404620 124404620 C T SNP GPR37 ENST00000303921 human ensembl 70_37 -1 known silent c.411 p.G137 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 21 23 52.27 30 0 0.00 GPR39 2863 genome.wustl.edu 37 2 133174897 133174897 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 133174897 133174897 C T SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known silent c.282 p.I94 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 31 9 21.95 45 0 0.00 GPR39 2863 genome.wustl.edu 37 2 133402986 133402986 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 133402986 133402986 G A SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known missense c.1169 p.R390H 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 30 30 50.00 57 0 0.00 GPR39 2863 genome.wustl.edu 37 2 133403010 133403010 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 133403010 133403010 G T SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known missense c.1193 p.R398L 0.801 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 35 10 22.22 34 0 0.00 GPR4 2828 genome.wustl.edu 37 19 46094537 46094537 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 46094537 46094537 G C SNP GPR4 ENST00000323040 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 73 29 28.43 59 0 0.00 GPR42 2866 genome.wustl.edu 37 19 35863116 35863116 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 35863116 35863116 C T SNP GPR42 ENST00000454971 human ensembl 70_37 +1 known silent c.855 p.A285 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC ENSG00000126251 83 29 25.89 89 0 0.00 GPR42 2866 genome.wustl.edu 37 19 35863134 35863134 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 35863134 35863134 G A SNP GPR42 ENST00000454971 human ensembl 70_37 +1 known silent c.873 p.L291 0.024 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC ENSG00000126251 9 3 25.00 18 0 0.00 GPR45 11250 genome.wustl.edu 37 2 105858468 105858468 + Silent SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 105858468 105858468 C A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known silent c.153 p.G51 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 20 13 39.39 60 0 0.00 GPR45 11250 genome.wustl.edu 37 2 105858750 105858750 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 105858750 105858750 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known silent c.435 p.P145 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 15 9 37.50 19 0 0.00 GPR45 11250 genome.wustl.edu 37 2 105858922 105858922 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 105858922 105858922 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known missense c.607 p.V203M 0.952 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 9 9 50.00 22 0 0.00 GPR45 11250 genome.wustl.edu 37 2 105859310 105859310 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 105859310 105859310 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known missense c.995 p.R332H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 20 12 37.50 26 0 0.00 GPR50 9248 genome.wustl.edu 37 X 150348749 150348749 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 150348749 150348749 G A SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known missense c.694 p.E232K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 32 8 20.00 52 0 0.00 GPR50 9248 genome.wustl.edu 37 X 150348926 150348926 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 150348926 150348926 G A SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known missense c.871 p.A291T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 30 12 28.57 32 0 0.00 GPR50 9248 genome.wustl.edu 37 X 150349573 150349573 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 150349573 150349573 C T SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known silent c.1518 p.I506 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 54 21 28.00 99 0 0.00 GPR52 9293 genome.wustl.edu 37 1 174417843 174417843 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 174417843 174417843 C T SNP GPR52 ENST00000367685 human ensembl 70_37 +1 known silent c.594 p.L198 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 76 24 24.00 104 1 0.95 GPR56 9289 genome.wustl.edu 37 16 57687930 57687930 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 57687930 57687930 C T SNP GPR56 ENST00000379696 human ensembl 70_37 +1 known missense c.653 p.S218F 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like - no_errors GPR56 HGNC ENSG00000205336 40 22 35.48 97 0 0.00 GPR56 9289 genome.wustl.edu 37 16 57689404 57689406 + In_Frame_Del DEL CTC CTC - TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 16 57689404 57689406 CTC - DEL GPR56 ENST00000379696 human ensembl 70_37 +1 known in_frame_del c.862_864 p.L290in_frame_del 0.976:0.981:0.964 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like - no_errors GPR56 HGNC ENSG00000205336 18 5 21.74 28 0 0.00 GPR61 83873 genome.wustl.edu 37 1 110086927 110086927 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 110086927 110086927 A G SNP GPR61 ENST00000404129 human ensembl 70_37 +1 known missense c.1283 p.Q428R 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR61 HGNC ENSG00000156097 19 17 47.22 27 0 0.00 GPR63 81491 genome.wustl.edu 37 6 97246639 97246639 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 97246639 97246639 G C SNP GPR63 ENST00000229955 human ensembl 70_37 -1 known missense c.969 p.F323L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 31 20 39.22 33 0 0.00 GPR63 81491 genome.wustl.edu 37 6 97246873 97246873 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 97246873 97246873 C G SNP GPR63 ENST00000229955 human ensembl 70_37 -1 known missense c.735 p.L245F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 15 6 28.57 21 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19017237 19017237 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 19017237 19017237 C A SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.2491 p.D831Y 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 26 16 38.10 83 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19021127 19021127 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 19021127 19021127 C G SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.2067 p.K689N 0.279 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 21 11 34.38 26 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19024193 19024193 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 19024193 19024193 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.1766 p.C589Y 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 55 27 32.93 92 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19032054 19032054 + Silent SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 19032054 19032054 T C SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known silent c.849 p.P283 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 47 11 18.97 43 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19046342 19046342 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 19046342 19046342 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 77 21 21.43 79 0 0.00 GPR64 10149 genome.wustl.edu 37 X 19049108 19049108 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 19049108 19049108 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 249 91 26.76 394 0 0.00 GPR65 8477 genome.wustl.edu 37 14 88477740 88477740 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 88477740 88477740 C G SNP GPR65 ENST00000267549 human ensembl 70_37 +1 known silent c.549 p.L183 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR65 HGNC ENSG00000140030 35 18 33.96 50 0 0.00 GPR65 8477 genome.wustl.edu 37 14 88477990 88477990 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 88477990 88477990 C T SNP GPR65 ENST00000267549 human ensembl 70_37 +1 known nonsense c.799 p.R267* 0.387 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR65 HGNC ENSG00000140030 51 25 32.89 59 0 0.00 GPR68 8111 genome.wustl.edu 37 14 91701059 91701059 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 14 91701059 91701059 G C SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 10 3 23.08 20 0 0.00 GPR68 8111 genome.wustl.edu 37 14 91701266 91701266 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 91701266 91701266 G C SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known silent c.159 p.L53 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 19 5 20.83 28 0 0.00 GPR68 8111 genome.wustl.edu 37 14 91701285 91701285 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 91701285 91701285 G A SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known missense c.140 p.P47L 0.974 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 24 12 33.33 28 0 0.00 GPR75 10936 genome.wustl.edu 37 2 54080632 54080632 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54080632 54080632 T C SNP GPR75 ENST00000394705 human ensembl 70_37 -1 known missense c.1262 p.K421R 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR75 HGNC ENSG00000119737 21 13 38.24 45 0 0.00 C5AR2 27202 genome.wustl.edu 37 19 47844929 47844929 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 47844929 47844929 C T SNP GPR77 ENST00000257267 human ensembl 70_37 +1 known silent c.873 p.F291 1.000 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC ENSG00000134830 60 21 25.93 102 0 0.00 C5AR2 27202 genome.wustl.edu 37 19 47844948 47844948 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 47844948 47844948 C G SNP GPR77 ENST00000257267 human ensembl 70_37 +1 known missense c.892 p.Q298E 0.581 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC ENSG00000134830 34 13 27.66 48 0 0.00 GPR78 27201 genome.wustl.edu 37 4 8583012 8583012 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 8583012 8583012 C T SNP GPR78 ENST00000382487 human ensembl 70_37 +1 known silent c.303 p.S101 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 3 2 40.00 18 0 0.00 GPR78 27201 genome.wustl.edu 37 4 8583293 8583293 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 4 8583293 8583293 T C SNP GPR78 ENST00000382487 human ensembl 70_37 +1 known missense c.584 p.V195A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 17 5 22.73 35 0 0.00 GPR78 27201 genome.wustl.edu 37 4 8584565 8584565 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 8584565 8584565 C G SNP GPR78 ENST00000504255 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors GPR78 HGNC ENSG00000155269 8 5 38.46 9 0 0.00 GPR83 10888 genome.wustl.edu 37 11 94129687 94129687 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 94129687 94129687 G A SNP GPR83 ENST00000243673 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 32 5 13.16 56 0 0.00 GPR85 54329 genome.wustl.edu 37 7 112724152 112724152 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 112724152 112724152 C T SNP GPR85 ENST00000297146 human ensembl 70_37 -1 known missense c.625 p.V209I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 29 7 19.44 31 0 0.00 GPR97 222487 genome.wustl.edu 37 16 57712222 57712222 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 57712222 57712222 C T SNP GPR97 ENST00000333493 human ensembl 70_37 +1 known silent c.486 p.L162 0.584 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR97 HGNC ENSG00000182885 39 8 17.02 54 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89923139 89923139 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 89923139 89923139 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.784 p.P262S 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 22 6 21.43 35 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89924399 89924399 + Missense_Mutation SNP T T G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 89924399 89924399 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.1259 p.V420G 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 52 9 14.75 63 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89933626 89933626 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 89933626 89933626 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2101 p.A701T 0.923 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 28 15 34.88 13 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89940535 89940535 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 89940535 89940535 T C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2747 p.V916A 0.440 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 49 71 58.68 98 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89940684 89940684 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 89940684 89940684 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 60 20 25.00 72 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89943530 89943530 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 89943530 89943530 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3238 p.G1080C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 32 4 11.11 32 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89947494 89947494 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 89947494 89947494 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3363 p.F1121L 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 22 13 37.14 64 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89947501 89947501 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 89947501 89947501 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3370 p.E1124K 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 20 13 39.39 66 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89949139 89949139 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 89949139 89949139 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3748 p.E1250Q 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 58 32 35.56 90 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89979428 89979428 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 89979428 89979428 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.5690 p.S1897F 0.994 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 47 9 16.07 43 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89981736 89981736 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 89981736 89981736 C G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6414 p.I2138M 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 24 24 50.00 27 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89985773 89985773 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 89985773 89985773 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6586 p.E2196K 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 31 5 13.89 46 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89985822 89985822 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 89985822 89985822 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6635 p.G2212E 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 24 14 36.84 27 0 0.00 GPR98 84059 genome.wustl.edu 37 5 89990515 89990515 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 89990515 89990515 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.7942 p.E2648K 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 25 21 45.65 31 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90006807 90006807 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 90006807 90006807 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.8834 p.G2945D 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 50 6 10.71 51 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90008191 90008191 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 90008191 90008191 C G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.9130 p.Q3044E 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 25 18 41.86 19 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90016875 90016875 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 90016875 90016875 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.9747 p.M3249I 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 56 9 13.85 47 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90041539 90041539 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 90041539 90041539 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.10901 p.I3634S 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 17 16 48.48 38 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90052844 90052844 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 90052844 90052844 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.11806 p.V3936I 0.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 22 11 33.33 43 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90052925 90052925 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 90052925 90052925 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.11887 p.G3963C 0.370 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 41 11 21.15 44 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90055300 90055300 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 90055300 90055300 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known silent c.12015 p.L4005 0.173 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 61 14 18.67 97 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90059175 90059175 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 90059175 90059175 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12174 p.L4058F 0.970 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 44 19 30.16 52 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90072290 90072290 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 90072290 90072290 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12424 p.R4142W 0.052 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 26 26 50.00 85 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90074397 90074397 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 90074397 90074397 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12820 p.E4274Q 0.004 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 34 15 30.61 50 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90074397 90074397 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 90074397 90074397 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12820 p.E4274Q 0.004 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 35 27 42.86 51 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90074700 90074700 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 90074700 90074700 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12868 p.R4290C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 26 26 49.06 33 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90079012 90079012 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 90079012 90079012 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.13303 p.D4435N 0.978 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 58 28 32.56 99 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90087011 90087011 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 90087011 90087011 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.14365 p.R4789W 0.999 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 23 33 58.93 59 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90101239 90101239 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 90101239 90101239 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.14800 p.E4934K 0.623 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 54 13 19.40 55 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90106537 90106537 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 90106537 90106537 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.15460 p.E5154Q 0.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 39 15 27.78 42 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90106730 90106730 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 90106730 90106730 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.15653 p.G5218E 0.994 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 30 7 18.92 36 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90124775 90124775 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 90124775 90124775 A C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.16383 p.E5461D 0.979 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 15 3 16.67 30 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90445962 90445962 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 90445962 90445962 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.18548 p.T6183M 0.996 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 22 15 40.54 33 0 0.00 GPR98 84059 genome.wustl.edu 37 5 90449160 90449160 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 90449160 90449160 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known silent c.18747 p.L6249 0.992 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 18 5 21.74 17 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101909234 101909234 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 101909234 101909234 A G SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known silent c.393 p.K131 0.051 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 74 18 19.57 78 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101909941 101909941 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101909941 101909941 C T SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.1100 p.S367L 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 17 5 22.73 29 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101909941 101909941 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 101909941 101909941 C G SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known nonsense c.1100 p.S367* 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 132 49 26.92 197 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101910193 101910193 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 101910193 101910193 C T SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.1352 p.A451V 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 41 10 19.61 42 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101910559 101910559 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 101910559 101910559 G A SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.1718 p.G573E 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 63 38 37.62 68 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101911353 101911353 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 101911353 101911353 G C SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.2512 p.E838Q 0.910 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 57 13 18.57 67 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101911364 101911364 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 101911364 101911364 C A SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known silent c.2523 p.V841 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 31 9 22.50 58 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101911587 101911587 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 101911587 101911587 G C SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.2746 p.E916Q 0.442 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 57 17 22.97 75 0 0.00 GPRASP1 9737 genome.wustl.edu 37 X 101911753 101911753 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc X 101911753 101911753 C T SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.2912 p.S971F 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 86 17 16.50 102 0 0.00 GPRASP2 114928 genome.wustl.edu 37 X 101970441 101970441 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 101970441 101970441 G C SNP GPRASP2 ENST00000332262 human ensembl 70_37 +1 known missense c.644 p.R215T 0.991 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 60 8 11.76 43 0 0.00 GPRASP2 114928 genome.wustl.edu 37 X 101970963 101970963 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 101970963 101970963 C T SNP GPRASP2 ENST00000332262 human ensembl 70_37 +1 known missense c.1166 p.S389F 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 32 22 40.74 52 0 0.00 GPRASP2 114928 genome.wustl.edu 37 X 101971104 101971104 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 101971104 101971104 G C SNP GPRASP2 ENST00000332262 human ensembl 70_37 +1 known missense c.1307 p.R436T 0.387 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 45 25 35.71 67 0 0.00 GPRC5A 9052 genome.wustl.edu 37 12 13061822 13061822 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 13061822 13061822 C T SNP GPRC5A ENST00000014914 human ensembl 70_37 +1 known silent c.639 p.I213 0.984 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 50 77 59.69 56 0 0.00 GPRC5B 51704 genome.wustl.edu 37 16 19883546 19883546 + Missense_Mutation SNP T T G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 19883546 19883546 T G SNP GPRC5B ENST00000537135 human ensembl 70_37 -1 known missense c.700 p.M234L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 86 28 24.56 128 1 0.78 GPRC5B 51704 genome.wustl.edu 37 16 19883813 19883813 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 19883813 19883813 C T SNP GPRC5B ENST00000537135 human ensembl 70_37 -1 known missense c.433 p.E145K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 16 6 27.27 46 0 0.00 GPRC5B 51704 genome.wustl.edu 37 16 19884105 19884105 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 19884105 19884105 G A SNP GPRC5B ENST00000537135 human ensembl 70_37 -1 known silent c.141 p.F47 0.074 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 10 9 47.37 32 0 0.00 GPRC5D 55507 genome.wustl.edu 37 12 13095230 13095230 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13095230 13095230 C T SNP GPRC5D ENST00000228887 human ensembl 70_37 -1 known missense c.928 p.A310T 1.000 NULL pfam_GPCR_3_C - no_errors GPRC5D HGNC ENSG00000111291 18 9 33.33 43 0 0.00 GPRC6A 222545 genome.wustl.edu 37 6 117113737 117113737 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 117113737 117113737 G T SNP GPRC6A ENST00000310357 human ensembl 70_37 -1 known missense c.2349 p.F783L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 1 5 83.33 11 0 0.00 GPRC6A 222545 genome.wustl.edu 37 6 117113846 117113846 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 117113846 117113846 C T SNP GPRC6A ENST00000310357 human ensembl 70_37 -1 known missense c.2240 p.G747E 0.998 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_vmron_rcpt_2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 54 13 19.40 79 0 0.00 GPRC6A 222545 genome.wustl.edu 37 6 117128267 117128267 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 117128267 117128267 G T SNP GPRC6A ENST00000310357 human ensembl 70_37 -1 known missense c.601 p.H201N 0.880 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 12 3 20.00 37 0 0.00 GPRIN1 114787 genome.wustl.edu 37 5 176025280 176025280 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 176025280 176025280 C G SNP GPRIN1 ENST00000303991 human ensembl 70_37 -1 known missense c.1556 p.G519A 0.023 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 26 31 54.39 28 0 0.00 GPRIN1 114787 genome.wustl.edu 37 5 176026585 176026585 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 176026585 176026585 G C SNP GPRIN1 ENST00000303991 human ensembl 70_37 -1 known missense c.251 p.S84C 0.822 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 30 14 31.82 83 0 0.00 GPRIN2 9721 genome.wustl.edu 37 10 46998893 46998893 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 46998893 46998893 C T SNP GPRIN2 ENST00000374314 human ensembl 70_37 +1 known missense c.13 p.R5C 0.726 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 89 22 19.82 127 0 0.00 GPRIN2 9721 genome.wustl.edu 37 10 46999178 46999178 + Missense_Mutation SNP A A C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 10 46999178 46999178 A C SNP GPRIN2 ENST00000374314 human ensembl 70_37 +1 known missense c.298 p.T100P 0.084 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 7 6 46.15 9 0 0.00 GPRIN2 9721 genome.wustl.edu 37 10 46999178 46999178 + Missense_Mutation SNP A A C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 46999178 46999178 A C SNP GPRIN2 ENST00000374314 human ensembl 70_37 +1 known missense c.298 p.T100P 0.084 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 7 4 36.36 10 0 0.00 GPRIN3 285513 genome.wustl.edu 37 4 90169399 90169399 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 4 90169399 90169399 C T SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known silent c.1863 p.K621 0.011 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 148 19 11.38 160 0 0.00 GPRIN3 285513 genome.wustl.edu 37 4 90169501 90169501 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 90169501 90169501 C T SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known silent c.1761 p.K587 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 34 19 35.85 62 0 0.00 GPRIN3 285513 genome.wustl.edu 37 4 90170445 90170445 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 90170445 90170445 C G SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known missense c.817 p.E273Q 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 3 5 62.50 10 0 0.00 GPRIN3 285513 genome.wustl.edu 37 4 90170537 90170537 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 90170537 90170537 G C SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known missense c.725 p.S242C 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 13 12 48.00 29 0 0.00 GPS1 2873 genome.wustl.edu 37 17 80011073 80011073 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80011073 80011073 C T SNP GPS1 ENST00000584229 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GPS1 HGNC ENSG00000169727 13 8 38.10 16 0 0.00 GPS1 2873 genome.wustl.edu 37 17 80011870 80011870 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 80011870 80011870 A T SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.373 p.T125S 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 33 18 34.62 45 0 0.00 GPS1 2873 genome.wustl.edu 37 17 80014758 80014758 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80014758 80014758 G C SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.1417 p.E473Q 1.000 smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 35 9 20.45 30 0 0.00 GPS1 2873 genome.wustl.edu 37 17 80014794 80014794 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 80014794 80014794 C A SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.1453 p.R485S 0.999 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 33 4 10.81 44 0 0.00 GPS1 2873 genome.wustl.edu 37 17 80014956 80014956 + Nonsense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 80014956 80014956 G T SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known nonsense c.1537 p.E513* 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 47 37 44.05 32 0 0.00 GPS2 2874 genome.wustl.edu 37 17 7216157 7216157 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 7216157 7216157 G A SNP GPS2 ENST00000380728 human ensembl 70_37 -1 known missense c.902 p.S301L 0.999 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 21 6 22.22 38 0 0.00 GPS2 2874 genome.wustl.edu 37 17 7216714 7216714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7216714 7216714 G C SNP GPS2 ENST00000380728 human ensembl 70_37 -1 known missense c.709 p.Q237E 1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 9 23 71.88 24 0 0.00 GPSM2 29899 genome.wustl.edu 37 1 109444509 109444509 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109444509 109444509 G A SNP GPSM2 ENST00000264126 human ensembl 70_37 +1 known missense c.895 p.E299K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 15 8 34.78 27 0 0.00 GPT 2875 genome.wustl.edu 37 8 145730016 145730016 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 145730016 145730016 C T SNP GPT ENST00000394955 human ensembl 70_37 +1 known silent c.192 p.I64 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT HGNC ENSG00000167701 30 52 63.41 56 0 0.00 GPT2 84706 genome.wustl.edu 37 16 46918771 46918771 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 46918771 46918771 C T SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known silent c.144 p.L48 0.975 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 27 6 18.18 15 0 0.00 GPT2 84706 genome.wustl.edu 37 16 46943727 46943727 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 16 46943727 46943727 C T SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known silent c.708 p.D236 0.999 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 122 45 26.79 171 0 0.00 GPT2 84706 genome.wustl.edu 37 16 46943752 46943752 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 46943752 46943752 G T SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.733 p.V245L 0.905 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 26 4 13.33 36 0 0.00 GPT2 84706 genome.wustl.edu 37 16 46958347 46958347 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 46958347 46958347 C G SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.1259 p.T420R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 36 10 21.74 23 0 0.00 GPT2 84706 genome.wustl.edu 37 16 46958347 46958347 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 46958347 46958347 C G SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.1259 p.T420R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 66 11 14.29 53 0 0.00 GPX5 2880 genome.wustl.edu 37 6 28497211 28497212 + RNA INS - - A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 28497211 28497212 - A INS GPX5 ENST00000442674 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.025 - - - no_errors GPX5 HGNC ENSG00000224586 26 30 53.57 28 0 0.00 GPX7 2882 genome.wustl.edu 37 1 53072514 53072514 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 53072514 53072514 G A SNP GPX7 ENST00000361314 human ensembl 70_37 +1 known silent c.297 p.E99 1.000 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX7 HGNC ENSG00000116157 74 10 11.90 86 0 0.00 GPX7 2882 genome.wustl.edu 37 1 53072635 53072635 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 53072635 53072635 C T SNP GPX7 ENST00000459779 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPX7 HGNC ENSG00000116157 31 18 36.73 65 0 0.00 GPX7 2882 genome.wustl.edu 37 1 53072635 53072635 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53072635 53072635 C T SNP GPX7 ENST00000459779 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPX7 HGNC ENSG00000116157 47 24 33.80 55 0 0.00 GPX8 493869 genome.wustl.edu 37 5 54456009 54456009 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 54456009 54456009 G A SNP GPX8 ENST00000502733 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors GPX8 HGNC ENSG00000164294 13 5 27.78 30 0 0.00 GPX8 493869 genome.wustl.edu 37 5 54460615 54460615 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 54460615 54460615 G A SNP GPX8 ENST00000506123 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 31 14 31.11 45 0 0.00 GRAMD1A 57655 genome.wustl.edu 37 19 35501052 35501052 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 35501052 35501052 G A SNP GRAMD1A ENST00000317991 human ensembl 70_37 +1 known missense c.382 p.E128K 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 53 18 25.35 53 0 0.00 GRAMD1B 57476 genome.wustl.edu 37 11 123448268 123448268 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 123448268 123448268 G A SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.217 p.G73S 0.999 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 71 20 21.98 127 1 0.78 GRAMD1B 57476 genome.wustl.edu 37 11 123464850 123464850 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123464850 123464850 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.316 p.P106S 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 17 12 41.38 46 0 0.00 GRAMD1B 57476 genome.wustl.edu 37 11 123476185 123476185 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 123476185 123476185 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.893 p.S298L 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 7 6 46.15 19 0 0.00 GRAMD1B 57476 genome.wustl.edu 37 11 123477438 123477438 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 123477438 123477438 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.1016 p.S339L 0.998 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 31 14 31.11 63 0 0.00 GRAMD1B 57476 genome.wustl.edu 37 11 123484181 123484181 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 123484181 123484181 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.1613 p.T538M 0.996 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 13 7 35.00 35 0 0.00 GRAMD1C 54762 genome.wustl.edu 37 3 113655209 113655209 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113655209 113655209 G A SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1553 p.R518Q 0.995 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 11 4 26.67 24 0 0.00 GRAMD1C 54762 genome.wustl.edu 37 3 113658832 113658832 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113658832 113658832 G T SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1791 p.E597D 0.996 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 6 12 66.67 33 0 0.00 GRAMD1C 54762 genome.wustl.edu 37 3 113659095 113659095 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 113659095 113659095 C G SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1811 p.S604C 0.966 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 33 9 21.43 24 0 0.00 GRAMD2 196996 genome.wustl.edu 37 15 72454718 72454718 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72454718 72454718 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known silent c.957 p.L319 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 25 14 35.90 28 0 0.00 GRAMD2 196996 genome.wustl.edu 37 15 72457721 72457721 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 72457721 72457721 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.574 p.E192K 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 14 6 30.00 16 0 0.00 GRAMD2 196996 genome.wustl.edu 37 15 72460080 72460080 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 72460080 72460080 G C SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.369 p.I123M 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 44 29 39.73 47 0 0.00 GRAMD2 196996 genome.wustl.edu 37 15 72460080 72460080 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72460080 72460080 G C SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.369 p.I123M 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 82 24 22.43 127 0 0.00 GRAMD2 196996 genome.wustl.edu 37 15 72460141 72460141 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 72460141 72460141 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.308 p.G103D 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 20 7 25.93 39 0 0.00 GRAMD3 65983 genome.wustl.edu 37 5 125820204 125820205 + Frame_Shift_Ins INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 125820204 125820205 - T INS GRAMD3 ENST00000542322 human ensembl 70_37 +1 known frame_shift_ins c.982_983 p.V330fs 0.007:0.006 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 29 19 39.58 70 0 0.00 GRAMD4 23151 genome.wustl.edu 37 22 47064702 47064702 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 47064702 47064702 C G SNP GRAMD4 ENST00000361034 human ensembl 70_37 +1 known missense c.981 p.F327L 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 79 24 23.30 143 0 0.00 GRAMD4 23151 genome.wustl.edu 37 22 47068805 47068805 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 47068805 47068805 G A SNP GRAMD4 ENST00000361034 human ensembl 70_37 +1 known missense c.1150 p.A384T 0.992 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 24 4 14.29 35 0 0.00 GRASP 160622 genome.wustl.edu 37 12 52408588 52408588 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 52408588 52408588 G A SNP GRASP ENST00000293662 human ensembl 70_37 +1 known missense c.793 p.V265M 0.004 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 7 8 50.00 13 0 0.00 GRASP 160622 genome.wustl.edu 37 12 52408605 52408605 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 52408605 52408605 C T SNP GRASP ENST00000293662 human ensembl 70_37 +1 known silent c.810 p.R270 0.797 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 21 20 48.78 11 0 0.00 GRB10 2887 genome.wustl.edu 37 7 50673007 50673007 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 50673007 50673007 C T SNP GRB10 ENST00000398812 human ensembl 70_37 -1 known missense c.1369 p.E457K 1.000 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 60 11 15.49 33 0 0.00 GRB14 2888 genome.wustl.edu 37 2 165349469 165349469 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 165349469 165349469 C T SNP GRB14 ENST00000497306 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GRB14 HGNC ENSG00000115290 24 15 38.46 35 0 0.00 GRB14 2888 genome.wustl.edu 37 2 165353988 165353988 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 165353988 165353988 C T SNP GRB14 ENST00000263915 human ensembl 70_37 -1 known missense c.1117 p.E373K 1.000 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 19 5 20.83 20 0 0.00 GRB14 2888 genome.wustl.edu 37 2 165365356 165365356 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 165365356 165365356 G A SNP GRB14 ENST00000263915 human ensembl 70_37 -1 known missense c.823 p.R275W 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 14 8 36.36 38 0 0.00 GRB7 2886 genome.wustl.edu 37 17 37899650 37899650 + Missense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 17 37899650 37899650 C A SNP GRB7 ENST00000445327 human ensembl 70_37 +1 known missense c.659 p.S220Y 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 147 48 24.49 64 0 0.00 GRB7 2886 genome.wustl.edu 37 17 37899685 37899685 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 37899685 37899685 G A SNP GRB7 ENST00000445327 human ensembl 70_37 +1 known missense c.694 p.D232N 0.960 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 24 16 40.00 60 0 0.00 GRB7 2886 genome.wustl.edu 37 17 37901738 37901738 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 37901738 37901738 G A SNP GRB7 ENST00000445327 human ensembl 70_37 +1 known missense c.1225 p.E409K 0.996 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 20 5 20.00 34 0 0.00 GREB1 9687 genome.wustl.edu 37 2 11718523 11718523 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 11718523 11718523 G A SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known silent c.738 p.T246 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 45 24 34.78 43 0 0.00 GREB1 9687 genome.wustl.edu 37 2 11738894 11738894 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 11738894 11738894 G C SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.2241 p.Q747H 0.084 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 68 12 15.00 93 0 0.00 GREB1 9687 genome.wustl.edu 37 2 11765420 11765420 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 11765420 11765420 C G SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.4288 p.Q1430E 0.234 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 53 11 17.19 45 0 0.00 GREB1 9687 genome.wustl.edu 37 2 11778841 11778841 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 11778841 11778841 C G SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known missense c.5592 p.I1864M 1.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 23 9 28.12 36 0 0.00 GREB1L 80000 genome.wustl.edu 37 18 19021373 19021373 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 19021373 19021373 C G SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 28 22 44.00 38 0 0.00 GREB1L 80000 genome.wustl.edu 37 18 19053101 19053101 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 19053101 19053101 G A SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.2292 p.M764I 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 41 17 28.33 39 0 0.00 GREB1L 80000 genome.wustl.edu 37 18 19076584 19076584 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 19076584 19076584 G A SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.3316 p.E1106K 0.920 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 38 11 22.45 43 0 0.00 GREB1L 80000 genome.wustl.edu 37 18 19093834 19093834 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 18 19093834 19093834 G C SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.4788 p.E1596D 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 82 17 17.17 79 0 0.00 GREM2 64388 genome.wustl.edu 37 1 240656728 240656728 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 240656728 240656728 C T SNP GREM2 ENST00000318160 human ensembl 70_37 -1 known silent c.48 p.V16 0.993 pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 84 21 20.00 115 0 0.00 GRHL1 29841 genome.wustl.edu 37 2 10105420 10105420 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 10105420 10105420 C A SNP GRHL1 ENST00000324907 human ensembl 70_37 +1 known missense c.1020 p.D340E 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 9 11 55.00 40 0 0.00 GRHL2 79977 genome.wustl.edu 37 8 102570802 102570802 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 102570802 102570802 C T SNP GRHL2 ENST00000251808 human ensembl 70_37 +1 known missense c.440 p.S147F 0.803 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 16 14 46.67 39 0 0.00 GRHL2 79977 genome.wustl.edu 37 8 102678907 102678907 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 102678907 102678907 C A SNP GRHL2 ENST00000251808 human ensembl 70_37 +1 known missense c.1854 p.F618L 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 37 19 33.33 42 0 0.00 GRHL3 57822 genome.wustl.edu 37 1 24664502 24664502 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 24664502 24664502 C T SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known silent c.861 p.F287 0.995 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 15 21 58.33 37 0 0.00 GRHL3 57822 genome.wustl.edu 37 1 24666196 24666196 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 24666196 24666196 G C SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 46 38 45.24 108 0 0.00 GRHL3 57822 genome.wustl.edu 37 1 24668628 24668628 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 24668628 24668628 G C SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known silent c.1071 p.L357 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 38 8 17.39 48 0 0.00 GRHPR 9380 genome.wustl.edu 37 9 37428495 37428495 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 37428495 37428495 C T SNP GRHPR ENST00000377824 human ensembl 70_37 +1 known missense c.419 p.S140L 0.996 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors GRHPR HGNC ENSG00000137106 38 12 24.00 58 0 0.00 GRIA1 2890 genome.wustl.edu 37 5 153056683 153056683 + Missense_Mutation SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 153056683 153056683 T C SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.1021 p.W341R 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 28 4 12.50 38 0 0.00 GRIA1 2890 genome.wustl.edu 37 5 153078478 153078478 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 153078478 153078478 G A SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.1327 p.D443N 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 19 23 54.76 64 0 0.00 GRIA1 2890 genome.wustl.edu 37 5 153144153 153144153 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 153144153 153144153 C T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known silent c.2013 p.Y671 0.528 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 24 4 14.29 29 0 0.00 GRIA1 2890 genome.wustl.edu 37 5 153181983 153181983 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 153181983 153181983 G T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.2483 p.G828V 1.000 prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 15 29 64.44 119 0 0.00 GRIA1 2890 genome.wustl.edu 37 5 153190775 153190775 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 153190775 153190775 C T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.2741 p.T914M 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 24 10 29.41 34 0 0.00 GRIA2 2891 genome.wustl.edu 37 4 158242732 158242732 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 158242732 158242732 C T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known missense c.863 p.A288V 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 2 4 66.67 34 0 0.00 GRIA2 2891 genome.wustl.edu 37 4 158254137 158254137 + Missense_Mutation SNP A A T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 158254137 158254137 A T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known missense c.1049 p.Q350L 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 8 11 57.89 37 0 0.00 GRIA2 2891 genome.wustl.edu 37 4 158257849 158257849 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 158257849 158257849 C T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known silent c.1794 p.L598 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 15 8 34.78 41 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122319787 122319787 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 122319787 122319787 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.213 p.L71 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 13 7 35.00 20 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122336540 122336540 + Silent SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 122336540 122336540 T C SNP GRIA3 ENST00000371264 human ensembl 70_37 +1 known silent c.321 p.N107 0.000 NULL NULL - no_errors GRIA3 HGNC ENSG00000125675 52 35 40.23 168 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122336583 122336583 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 122336583 122336583 C A SNP GRIA3 ENST00000371264 human ensembl 70_37 +1 known missense c.364 p.L122I 0.000 NULL NULL - no_errors GRIA3 HGNC ENSG00000125675 98 66 40.24 298 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122387169 122387169 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 122387169 122387169 C T SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.284 p.S95L 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 15 15 50.00 41 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122387269 122387269 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 122387269 122387269 C G SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.384 p.S128R 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 30 15 33.33 46 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122387320 122387320 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 122387320 122387320 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.435 p.L145 0.995 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 35 32 47.76 36 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122387320 122387320 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 122387320 122387320 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.435 p.L145 0.995 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 66 59 47.20 134 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122387377 122387377 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 122387377 122387377 C T SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.492 p.L164 0.993 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 20 12 37.50 38 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122532563 122532563 + Missense_Mutation SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 X 122532563 122532563 A G SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.989 p.D330G 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 32 23 41.82 41 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122538637 122538637 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 122538637 122538637 C A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.1372 p.L458I 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 67 13 15.85 58 0 0.00 GRIA3 2892 genome.wustl.edu 37 X 122551678 122551678 + Nonsense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 122551678 122551678 C G SNP GRIA3 ENST00000541091 human ensembl 70_37 +1 known nonsense c.1878 p.Y626* 0.049 smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd - no_errors GRIA3 HGNC ENSG00000125675 102 104 50.24 150 0 0.00 GRIA4 2893 genome.wustl.edu 37 11 105774694 105774694 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 105774694 105774694 G A SNP GRIA4 ENST00000282499 human ensembl 70_37 +1 known missense c.1040 p.R347K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 11 10 47.62 17 0 0.00 GRIA4 2893 genome.wustl.edu 37 11 105804604 105804604 + Missense_Mutation SNP G G C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 11 105804604 105804604 G C SNP GRIA4 ENST00000282499 human ensembl 70_37 +1 known missense c.2203 p.E735Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 37 7 15.91 31 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87484146 87484146 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 87484146 87484146 G A SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.1821 p.S607 0.803 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 43 7 14.00 81 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87484191 87484191 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 87484191 87484191 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.1776 p.Q592H 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 52 18 25.71 86 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87484394 87484394 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 87484394 87484394 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.1573 p.E525Q 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 16 3 15.79 17 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87628911 87628911 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 87628911 87628911 A C SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.807 p.D269E 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 20 5 20.00 41 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87898609 87898609 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 87898609 87898609 G A SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.693 p.L231 0.928 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 36 14 28.00 68 0 0.00 GRID1 2894 genome.wustl.edu 37 10 87898651 87898651 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 87898651 87898651 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.651 p.L217 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 46 20 30.30 107 0 0.00 GRID2 2895 genome.wustl.edu 37 4 93225752 93225753 + RNA INS - - A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 93225752 93225753 - A INS GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 11 7 38.89 11 0 0.00 GRID2 2895 genome.wustl.edu 37 4 93225752 93225753 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 93225752 93225753 - A INS GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 33 8 19.51 24 0 0.00 GRID2 2895 genome.wustl.edu 37 4 93225802 93225802 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 93225802 93225802 G C SNP GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.556 - - - no_errors GRID2 HGNC ENSG00000152208 31 7 18.42 86 0 0.00 GRID2 2895 genome.wustl.edu 37 4 94006335 94006335 + Nonsense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 94006335 94006335 C G SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known nonsense c.434 p.S145* 0.907 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 38 15 28.30 64 0 0.00 GRID2 2895 genome.wustl.edu 37 4 94145869 94145869 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 94145869 94145869 C G SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known missense c.1068 p.I356M 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 15 12 44.44 46 0 0.00 GRID2IP 392862 genome.wustl.edu 37 7 6537475 6537475 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 6537475 6537475 C T SNP GRID2IP ENST00000457091 human ensembl 70_37 -1 putative missense c.3566 p.R1189Q 1.000 superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 21 8 27.59 40 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 30909691 30909691 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 21 30909691 30909691 C T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.2629 p.A877T 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 30 19 38.00 39 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 30925920 30925920 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 30925920 30925920 C G SNP GRIK1 ENST00000309434 human ensembl 70_37 -1 known missense c.2719 p.E907Q 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 22 15 40.54 41 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 30953833 30953833 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 30953833 30953833 G T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.1830 p.H610Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 28 39 58.21 54 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 30953833 30953833 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 21 30953833 30953833 G T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.1830 p.H610Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 34 43 55.84 33 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 30961186 30961186 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 30961186 30961186 G A SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known silent c.1548 p.N516 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 72 8 10.00 61 0 0.00 GRIK1 2897 genome.wustl.edu 37 21 31045341 31045341 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 31045341 31045341 C G SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.688 p.D230H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 246 57 18.75 352 0 0.00 GRIK3 2899 genome.wustl.edu 37 1 37270815 37270815 + Missense_Mutation SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 37270815 37270815 T A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.2338 p.T780S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 45 27 37.50 20 0 0.00 GRIK3 2899 genome.wustl.edu 37 1 37270815 37270815 + Missense_Mutation SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 37270815 37270815 T A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.2338 p.T780S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 65 25 27.47 80 0 0.00 GRIK3 2899 genome.wustl.edu 37 1 37271868 37271868 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 37271868 37271868 C A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known silent c.2151 p.A717 0.846 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 22 4 15.38 28 0 0.00 GRIK3 2899 genome.wustl.edu 37 1 37337919 37337919 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 37337919 37337919 C T SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.602 p.R201H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 41 11 21.15 37 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120702685 120702685 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 120702685 120702685 C T SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.636 p.T212 0.004 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 26 27 50.94 51 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120769288 120769288 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120769288 120769288 C A SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1212 p.L404 0.737 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 34 15 30.61 84 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120776103 120776103 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 120776103 120776103 C G SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1377 p.L459 0.142 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 34 13 27.66 57 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120776193 120776193 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 120776193 120776193 G C SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1467 p.L489 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 133 35 20.83 193 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120831691 120831691 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 120831691 120831691 G C SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known missense c.1948 p.D650H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 70 31 30.69 113 0 0.00 GRIK4 2900 genome.wustl.edu 37 11 120852839 120852839 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 120852839 120852839 G T SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known missense c.2420 p.G807V 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 31 12 27.91 44 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42506416 42506416 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42506416 42506416 G C SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.2797 p.L933V 0.001 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 53 6 10.17 37 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42507726 42507726 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 42507726 42507726 C T SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known silent c.2373 p.E791 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 46 20 30.30 82 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42507794 42507794 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 42507794 42507794 G T SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.2305 p.L769I 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 28 4 12.50 39 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42510919 42510919 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 42510919 42510919 G C SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.1915 p.L639V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 37 30 44.78 52 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42526474 42526474 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 42526474 42526474 G A SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known silent c.1506 p.I502 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 24 4 14.29 40 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42558573 42558573 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 42558573 42558573 G A SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known nonsense c.955 p.R319* 0.998 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 51 37 42.05 62 0 0.00 GRIK5 2901 genome.wustl.edu 37 19 42569373 42569373 + Splice_Site SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 42569373 42569373 A G SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known splice_site c.244+2 e2+2 1.000 - - - no_errors GRIK5 HGNC ENSG00000105737 78 31 28.44 46 0 0.00 GRIN1 2902 genome.wustl.edu 37 9 140033986 140033986 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140033986 140033986 C T SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.48 p.S16 0.996 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 11 4 26.67 21 0 0.00 GRIN1 2902 genome.wustl.edu 37 9 140051346 140051346 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 140051346 140051346 G A SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.825 p.K275 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 18 3 14.29 19 0 0.00 GRIN1 2902 genome.wustl.edu 37 9 140053108 140053108 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 140053108 140053108 C T SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.1149 p.G383 0.657 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 22 17 42.50 51 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 9857127 9857127 G A SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.4274 p.S1425L 0.911 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 25 23 47.92 33 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9857475 9857475 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 9857475 9857475 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.3926 p.R1309Q 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 69 10 12.66 104 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9858082 9858082 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 9858082 9858082 T C SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.3319 p.K1107E 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 25 3 10.71 39 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9858383 9858383 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 9858383 9858383 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.3018 p.A1006 0.109 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 25 11 30.56 30 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9858383 9858383 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 9858383 9858383 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.3018 p.A1006 0.109 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 92 33 26.40 149 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9858728 9858728 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 9858728 9858728 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2673 p.Q891 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 40 9 18.37 43 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9862723 9862723 + Silent SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 9862723 9862723 G C SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2580 p.L860 0.987 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 27 12 30.77 27 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9916129 9916129 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 9916129 9916129 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2160 p.L720 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 73 47 39.17 125 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9916191 9916191 + Missense_Mutation SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 9916191 9916191 A T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.2098 p.Y700N 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 57 59 50.43 94 0 0.00 GRIN2A 2903 genome.wustl.edu 37 16 9916231 9916231 + Silent SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 9916231 9916231 A G SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2058 p.P686 0.708 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 60 28 31.82 61 0 0.00 GRIN2B 2904 genome.wustl.edu 37 12 13716489 13716489 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 13716489 13716489 G A SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.3683 p.T1228M 0.019 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 8 11 57.89 36 0 0.00 GRIN2B 2904 genome.wustl.edu 37 12 13717247 13717247 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 13717247 13717247 C G SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known silent c.2925 p.L975 0.997 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 24 21 45.65 61 0 0.00 GRIN2B 2904 genome.wustl.edu 37 12 13768193 13768193 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 13768193 13768193 C T SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.1509 p.M503I 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 73 18 19.78 105 0 0.00 GRIN2B 2904 genome.wustl.edu 37 12 13906621 13906621 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 13906621 13906621 A C SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.640 p.S214A 1.000 pfam_ANF_lig-bd_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 18 9 32.14 50 0 0.00 GRIN2C 2905 genome.wustl.edu 37 17 72842272 72842272 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 72842272 72842272 G A SNP GRIN2C ENST00000293190 human ensembl 70_37 -1 known silent c.2283 p.I761 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 48 7 12.73 39 0 0.00 GRIN2C 2905 genome.wustl.edu 37 17 72843459 72843459 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 72843459 72843459 G T SNP GRIN2C ENST00000293190 human ensembl 70_37 -1 known silent c.1989 p.L663 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 38 12 24.00 35 0 0.00 GRIN2D 2906 genome.wustl.edu 37 19 48908030 48908030 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 48908030 48908030 G A SNP GRIN2D ENST00000263269 human ensembl 70_37 +1 known missense c.505 p.E169K 0.993 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 15 17 53.12 34 0 0.00 GRIN2D 2906 genome.wustl.edu 37 19 48908309 48908309 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 48908309 48908309 G A SNP GRIN2D ENST00000263269 human ensembl 70_37 +1 known missense c.784 p.E262K 0.992 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 13 4 23.53 11 0 0.00 GRIN2D 2906 genome.wustl.edu 37 19 48908592 48908592 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 48908592 48908592 G A SNP GRIN2D ENST00000263269 human ensembl 70_37 +1 known missense c.1067 p.R356H 0.525 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 17 50 74.63 46 0 0.00 GRIN3A 116443 genome.wustl.edu 37 9 104448997 104448997 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 104448997 104448997 C T SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known silent c.1185 p.L395 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 30 23 43.40 63 0 0.00 GRIN3A 116443 genome.wustl.edu 37 9 104499571 104499571 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 104499571 104499571 C G SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.691 p.E231Q 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 34 10 22.73 44 0 0.00 GRIN3A 116443 genome.wustl.edu 37 9 104499576 104499576 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 104499576 104499576 G A SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.686 p.P229L 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 13 5 27.78 36 0 0.00 GRIN3A 116443 genome.wustl.edu 37 9 104499904 104499904 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 104499904 104499904 C T SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.358 p.E120K 0.995 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 12 7 36.84 20 0 0.00 GRIN3B 116444 genome.wustl.edu 37 19 1004896 1004897 + Frame_Shift_Ins INS - - CGTT TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 1004896 1004897 - CGTT INS GRIN3B ENST00000234389 human ensembl 70_37 +1 known frame_shift_ins c.1396_1397 p.G466fs 0.993:0.989 smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 6 3 33.33 10 0 0.00 GRIN3B 116444 genome.wustl.edu 37 19 1005526 1005526 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 1005526 1005526 G A SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known missense c.2026 p.E676K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 28 17 37.78 19 0 0.00 GRIN3B 116444 genome.wustl.edu 37 19 1008173 1008173 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 1008173 1008173 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2349 p.L783 0.991 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 7 4 36.36 13 0 0.00 GRIN3B 116444 genome.wustl.edu 37 19 1008188 1008188 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1008188 1008188 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2364 p.S788 0.791 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 13 11 45.83 30 0 0.00 GRIN3B 116444 genome.wustl.edu 37 19 1008188 1008188 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1008188 1008188 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2364 p.S788 0.791 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 4 5 55.56 16 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66770815 66770815 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66770815 66770815 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2760 p.L920F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 30 21 40.38 36 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66773175 66773175 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 66773175 66773175 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2506 p.D836N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 291 86 22.75 404 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66786232 66786232 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 66786232 66786232 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2320 p.D774N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 38 12 24.00 45 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66788034 66788034 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788034 66788034 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2083 p.D695N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 34 23 40.35 75 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66788046 66788046 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788046 66788046 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2071 p.E691Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 33 23 41.07 76 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66788130 66788130 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788130 66788130 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1987 p.E663Q 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 25 17 40.48 37 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66800072 66800072 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 66800072 66800072 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1975 p.D659N 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 65 11 14.47 53 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66839208 66839208 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 66839208 66839208 G A SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1435 p.P479S 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 28 26 47.27 39 0 0.00 GRIP1 23426 genome.wustl.edu 37 12 66856842 66856842 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 66856842 66856842 G C SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.904 p.L302V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 31 19 38.00 69 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14530659 14530659 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 14530659 14530659 G A SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.965 - - - no_errors GRIP2 HGNC ENSG00000144596 42 26 38.24 31 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14530730 14530730 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 14530730 14530730 G T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.971 - - - no_errors GRIP2 HGNC ENSG00000144596 38 5 11.63 38 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14533758 14533758 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 14533758 14533758 G T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GRIP2 HGNC ENSG00000144596 25 4 13.79 30 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14535166 14535166 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 14535166 14535166 G A SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIP2 HGNC ENSG00000144596 43 18 29.51 101 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14548392 14548392 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 14548392 14548392 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.940 - - - no_errors GRIP2 HGNC ENSG00000144596 10 24 70.59 50 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14548415 14548415 + RNA SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 14548415 14548415 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors GRIP2 HGNC ENSG00000144596 31 9 22.50 32 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14548435 14548435 + RNA SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 14548435 14548435 C A SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 61 10 14.08 55 0 0.00 GRIP2 80852 genome.wustl.edu 37 3 14558622 14558622 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14558622 14558622 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.984 - - - no_errors GRIP2 HGNC ENSG00000144596 43 13 23.21 74 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48830616 48830616 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48830616 48830616 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.2515 p.E839K 0.999 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 16 9 36.00 45 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48839723 48839723 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 48839723 48839723 G A SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.1402 p.R468C 0.997 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 45 16 26.23 44 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48840190 48840190 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 48840190 48840190 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.1269 p.R423 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 387 48 11.03 216 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48841726 48841726 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48841726 48841726 G A SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.1131 p.Y377 0.200 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 40 33 45.21 96 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48841800 48841800 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48841800 48841800 T G SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.1057 p.T353P 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 51 6 10.53 55 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48844596 48844596 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48844596 48844596 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.885 p.L295 0.887 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 46 22 32.35 65 0 0.00 GRIPAP1 56850 genome.wustl.edu 37 X 48855595 48855595 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48855595 48855595 G C SNP GRIPAP1 ENST00000495258 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors GRIPAP1 HGNC ENSG00000068400 18 6 25.00 27 0 0.00 GRK1 6011 genome.wustl.edu 37 13 114321720 114321720 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 114321720 114321720 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.19 p.E7K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 85 18 17.48 112 1 0.88 GRK1 6011 genome.wustl.edu 37 13 114325861 114325861 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 114325861 114325861 C T SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.875 p.P292L 0.904 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 69 8 10.39 37 0 0.00 GRK1 6011 genome.wustl.edu 37 13 114325968 114325968 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 114325968 114325968 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.982 p.D328N 0.986 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 16 12 42.86 25 0 0.00 GRK1 6011 genome.wustl.edu 37 13 114436031 114436031 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 114436031 114436031 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.1369 p.D457N 0.025 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 36 21 36.84 60 0 0.00 GRK4 2868 genome.wustl.edu 37 4 2965765 2965765 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2965765 2965765 C G SNP GRK4 ENST00000442472 human ensembl 70_37 +1 known missense c.56 p.S19W 0.000 NULL NULL - no_errors GRK4 HGNC ENSG00000125388 13 7 35.00 13 0 0.00 GRK4 2868 genome.wustl.edu 37 4 2990493 2990493 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2990493 2990493 G A SNP GRK4 ENST00000398052 human ensembl 70_37 +1 known missense c.188 p.G63E 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 45 31 40.79 70 0 0.00 GRK4 2868 genome.wustl.edu 37 4 3040219 3040219 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 3040219 3040219 C G SNP GRK4 ENST00000398052 human ensembl 70_37 +1 known missense c.1662 p.F554L 0.928 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 15 4 21.05 23 0 0.00 GRK5 2869 genome.wustl.edu 37 10 121093341 121093341 + Nonsense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 121093341 121093341 G T SNP GRK5 ENST00000369106 human ensembl 70_37 +1 known nonsense c.211 p.E71* 0.002 NULL NULL - no_errors GRK5 HGNC ENSG00000198873 34 4 10.53 30 0 0.00 GRK5 2869 genome.wustl.edu 37 10 121196337 121196337 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 121196337 121196337 G C SNP GRK5 ENST00000392870 human ensembl 70_37 +1 known missense c.913 p.E305Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 38 16 29.63 50 0 0.00 GRK6 2870 genome.wustl.edu 37 5 176859762 176859762 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 176859762 176859762 G T SNP GRK6 ENST00000528793 human ensembl 70_37 +1 known missense c.395 p.R132L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 71 41 36.61 225 0 0.00 GRK7 131890 genome.wustl.edu 37 3 141497720 141497720 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 141497720 141497720 G T SNP GRK7 ENST00000264952 human ensembl 70_37 +1 known silent c.594 p.G198 0.136 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 25 3 10.71 24 0 0.00 GRK7 131890 genome.wustl.edu 37 3 141535812 141535812 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141535812 141535812 G A SNP GRK7 ENST00000264952 human ensembl 70_37 +1 known missense c.1582 p.E528K 1.000 smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 47 13 21.67 33 0 0.00 GRM1 2911 genome.wustl.edu 37 6 146480687 146480687 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 146480687 146480687 G A SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.904 p.A302T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 16 5 23.81 38 0 0.00 GRM1 2911 genome.wustl.edu 37 6 146678717 146678717 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 146678717 146678717 G A SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.1489 p.V497I 0.852 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 48 39 44.83 80 0 0.00 GRM1 2911 genome.wustl.edu 37 6 146755015 146755015 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 146755015 146755015 G T SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.2668 p.G890C 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 25 3 10.71 44 0 0.00 GRM1 2911 genome.wustl.edu 37 6 146755620 146755620 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 146755620 146755620 C T SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known silent c.3273 p.S1091 0.645 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 4 10 71.43 17 0 0.00 GRM2 2912 genome.wustl.edu 37 3 51746865 51746865 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 51746865 51746865 G T SNP GRM2 ENST00000395052 human ensembl 70_37 +1 known missense c.827 p.R276L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 45 5 10.00 62 0 0.00 GRM2 2912 genome.wustl.edu 37 3 51751678 51751678 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 51751678 51751678 C T SNP GRM2 ENST00000395052 human ensembl 70_37 +1 known missense c.2390 p.S797L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 24 26 52.00 67 0 0.00 GRM3 2913 genome.wustl.edu 37 7 86415790 86415790 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 86415790 86415790 G A SNP GRM3 ENST00000361669 human ensembl 70_37 +1 known missense c.682 p.E228K 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 44 15 25.42 61 0 0.00 GRM3 2913 genome.wustl.edu 37 7 86479761 86479761 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 86479761 86479761 G A SNP GRM3 ENST00000361669 human ensembl 70_37 +1 known missense c.2467 p.V823I 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 135 42 23.73 111 1 0.89 GRM4 2914 genome.wustl.edu 37 6 34071423 34071423 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 34071423 34071423 G T SNP GRM4 ENST00000535756 human ensembl 70_37 -1 known missense c.55 p.P19T 0.011 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt - no_errors GRM4 HGNC ENSG00000124493 15 10 40.00 28 0 0.00 GRM5 2915 genome.wustl.edu 37 11 88241884 88241884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 88241884 88241884 G A SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.3515 p.S1172L 1.000 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 9 9 50.00 36 0 0.00 GRM5 2915 genome.wustl.edu 37 11 88300278 88300278 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 88300278 88300278 C G SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.2573 p.R858T 1.000 prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 39 14 26.42 38 0 0.00 GRM5 2915 genome.wustl.edu 37 11 88300848 88300848 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 88300848 88300848 C T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.2003 p.R668H 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 23 7 23.33 34 0 0.00 GRM5 2915 genome.wustl.edu 37 11 88386447 88386447 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 88386447 88386447 G T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.1036 p.P346T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 34 19 35.85 72 0 0.00 GRM5 2915 genome.wustl.edu 37 11 88780671 88780671 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 88780671 88780671 C T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.370 p.E124K 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 24 7 22.58 79 0 0.00 GRM6 2916 genome.wustl.edu 37 5 178413374 178413374 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178413374 178413374 G C SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known silent c.1881 p.L627 0.892 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 47 12 20.34 52 0 0.00 GRM6 2916 genome.wustl.edu 37 5 178416330 178416330 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178416330 178416330 C A SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known missense c.1089 p.E363D 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 29 19 39.58 35 0 0.00 GRM6 2916 genome.wustl.edu 37 5 178418866 178418866 + Splice_Site SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 178418866 178418866 A C SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known splice_site c.721+2 e2+2 1.000 - - - no_errors GRM6 HGNC ENSG00000113262 20 6 22.22 25 0 0.00 GRM6 2916 genome.wustl.edu 37 5 178418889 178418889 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 178418889 178418889 C T SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known missense c.700 p.V234I 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 12 9 42.86 25 0 0.00 GRM6 2916 genome.wustl.edu 37 5 178418890 178418890 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 178418890 178418890 G A SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known silent c.699 p.F233 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 26 6 18.75 24 0 0.00 GRM7 2917 genome.wustl.edu 37 3 6903211 6903211 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 6903211 6903211 G A SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.136 p.E46K 1.000 prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 13 13 50.00 27 0 0.00 GRM7 2917 genome.wustl.edu 37 3 7188329 7188329 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 7188329 7188329 C T SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.710 p.S237F 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 13 18 58.06 50 0 0.00 GRM7 2917 genome.wustl.edu 37 3 7348315 7348315 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 7348315 7348315 C G SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.1009 p.Q337E 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 27 18 40.00 71 0 0.00 GRM7 2917 genome.wustl.edu 37 3 7678036 7678036 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 7678036 7678036 C T SNP GRM7 ENST00000458641 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GRM7 HGNC ENSG00000196277 27 13 32.50 74 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126078884 126078884 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 126078884 126078884 T - DEL GRM8 ENST00000489939 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors GRM8 HGNC ENSG00000179603 51 6 10.53 75 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126249491 126249491 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 126249491 126249491 G A SNP GRM8 ENST00000341617 human ensembl 70_37 -1 known missense c.1490 p.S497F 1.000 NULL pfam_ANF_lig-bd_rcpt,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 62 37 37.00 117 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126249508 126249508 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 126249508 126249508 G C SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1402 p.P468A 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 54 12 18.18 49 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126409937 126409937 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 126409937 126409937 G A SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1339 p.R447W 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 54 55 50.46 86 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126542611 126542611 + Missense_Mutation SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 126542611 126542611 T C SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1141 p.I381V 0.996 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 46 27 36.99 120 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126544686 126544686 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 126544686 126544686 C G SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.779 p.G260A 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 43 13 23.21 49 0 0.00 GRM8 2918 genome.wustl.edu 37 7 126883055 126883055 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 126883055 126883055 C A SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.204 p.K68N 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 22 14 38.89 23 0 0.00 GRN 2896 genome.wustl.edu 37 17 42426636 42426636 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42426636 42426636 G A SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.104 p.G35E 0.888 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 70 18 20.45 60 0 0.00 GRN 2896 genome.wustl.edu 37 17 42427876 42427876 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 42427876 42427876 C T SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.529 p.R177C 0.901 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 231 57 19.72 211 0 0.00 GRN 2896 genome.wustl.edu 37 17 42429607 42429607 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 42429607 42429607 G C SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.1404 p.Q468H 0.977 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 55 13 19.12 81 0 0.00 GRP 2922 genome.wustl.edu 37 18 56887606 56887606 + Missense_Mutation SNP A A T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 56887606 56887606 A T SNP GRP ENST00000256857 human ensembl 70_37 +1 known missense c.109 p.M37L 1.000 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 21 18 46.15 45 0 0.00 GRPEL2 134266 genome.wustl.edu 37 5 148732527 148732527 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 148732527 148732527 T G SNP GRPEL2 ENST00000507562 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GRPEL2 HGNC ENSG00000164284 8 6 42.86 9 0 0.00 GRPR 2925 genome.wustl.edu 37 X 16142145 16142145 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 16142145 16142145 T G SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.69 p.S23R 0.953 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 20 12 37.50 29 0 0.00 GRPR 2925 genome.wustl.edu 37 X 16142202 16142202 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 16142202 16142202 C T SNP GRPR ENST00000380289 human ensembl 70_37 +1 known silent c.126 p.V42 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 41 10 19.61 40 0 0.00 GRPR 2925 genome.wustl.edu 37 X 16168521 16168521 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 16168521 16168521 G C SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.507 p.M169I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 15 16 50.00 46 0 0.00 GRPR 2925 genome.wustl.edu 37 X 16170617 16170617 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 16170617 16170617 C T SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.1004 p.T335I 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 16 13 44.83 40 0 0.00 GRPR 2925 genome.wustl.edu 37 X 16170721 16170721 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 16170721 16170721 A G SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.1108 p.T370A 1.000 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 18 4 18.18 12 0 0.00 GRSF1 2926 genome.wustl.edu 37 4 71697314 71697314 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 71697314 71697314 C T SNP GRSF1 ENST00000254799 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors GRSF1 HGNC ENSG00000132463 103 23 18.25 118 0 0.00 GRTP1 79774 genome.wustl.edu 37 13 113980315 113980315 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 113980315 113980315 C T SNP GRTP1 ENST00000375430 human ensembl 70_37 -1 known silent c.654 p.L218 0.981 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 111 14 11.20 121 0 0.00 GRTP1 79774 genome.wustl.edu 37 13 114018388 114018388 + RNA SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 114018388 114018388 G C SNP GRTP1 ENST00000476439 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors GRTP1 HGNC ENSG00000139835 7 6 46.15 12 0 0.00 GRXCR1 389207 genome.wustl.edu 37 4 42895397 42895397 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 42895397 42895397 G A SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known silent c.114 p.P38 0.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 6 8 57.14 62 0 0.00 GRXCR1 389207 genome.wustl.edu 37 4 42965046 42965046 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 4 42965046 42965046 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known silent c.522 p.N174 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 76 22 22.45 132 0 0.00 GRXCR1 389207 genome.wustl.edu 37 4 42965086 42965086 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 42965086 42965086 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known nonsense c.562 p.R188* 0.925 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 53 34 39.08 87 0 0.00 GRXCR1 389207 genome.wustl.edu 37 4 43032426 43032426 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 43032426 43032426 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known missense c.742 p.L248F 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 53 12 18.46 75 0 0.00 GSDMA 284110 genome.wustl.edu 37 17 38121935 38121935 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 38121935 38121935 G C SNP GSDMA ENST00000301659 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 0.886 - - - no_errors GSDMA HGNC ENSG00000167914 9 3 25.00 16 0 0.00 GSDMA 284110 genome.wustl.edu 37 17 38121988 38121988 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 38121988 38121988 C A SNP GSDMA ENST00000301659 human ensembl 70_37 +1 known missense c.48 p.N16K 0.995 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 38 11 22.45 30 0 0.00 GSDMB 55876 genome.wustl.edu 37 17 38061111 38061111 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38061111 38061111 G C SNP GSDMB ENST00000360317 human ensembl 70_37 -1 known missense c.1205 p.S402C 0.001 NULL pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 30 16 34.78 30 0 0.00 GSDMB 55876 genome.wustl.edu 37 17 38061148 38061148 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38061148 38061148 C T SNP GSDMB ENST00000360317 human ensembl 70_37 -1 known missense c.1168 p.E390K 0.005 NULL pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 24 25 51.02 18 0 0.00 GSDMC 56169 genome.wustl.edu 37 8 130760789 130760789 + Silent SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 130760789 130760789 G C SNP GSDMC ENST00000276708 human ensembl 70_37 -1 known silent c.1485 p.L495 0.504 NULL pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 24 8 24.24 20 0 0.00 GSDMC 56169 genome.wustl.edu 37 8 130762759 130762759 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 130762759 130762759 G A SNP GSDMC ENST00000276708 human ensembl 70_37 -1 known missense c.1001 p.S334L 0.004 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 36 14 28.00 40 0 0.00 GSDMD 79792 genome.wustl.edu 37 8 144641548 144641548 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 144641548 144641548 G C SNP GSDMD ENST00000262580 human ensembl 70_37 +1 known missense c.43 p.E15Q 0.986 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC ENSG00000104518 17 12 41.38 27 0 0.00 GSE1 23199 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 70_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 130 22 14.47 191 0 0.00 GSE1 23199 genome.wustl.edu 37 16 85689362 85689362 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 85689362 85689362 G A SNP GSE1 ENST00000253458 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 67 17 20.24 100 0 0.00 GSG1 83445 genome.wustl.edu 37 12 13243620 13243620 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 13243620 13243620 G A SNP GSG1 ENST00000324458 human ensembl 70_37 -1 known missense c.181 p.P61S 1.000 pfam_GSG-1 pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 20 3 13.04 39 0 0.00 GSG2 83903 genome.wustl.edu 37 17 3627380 3627380 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 3627380 3627380 G A SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.151 p.D51N 0.903 NULL pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC ENSG00000177602 8 4 33.33 13 0 0.00 GSG2 83903 genome.wustl.edu 37 17 3629039 3629039 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3629039 3629039 G C SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.1810 p.E604Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC ENSG00000177602 18 3 14.29 12 0 0.00 GSG2 83903 genome.wustl.edu 37 17 3629351 3629351 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 3629351 3629351 G C SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.2122 p.E708Q 0.305 pfam_DUF3635,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC ENSG00000177602 82 39 32.23 70 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42735003 42735003 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42735003 42735003 C T SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1395 p.P465 0.016 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 57 18 24.00 107 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42736279 42736279 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736279 42736279 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1308 p.L436 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 60 7 10.45 52 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42736669 42736669 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736669 42736669 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1264 p.L422V 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 35 6 14.63 27 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42736791 42736791 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736791 42736791 G C SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1142 p.S381C 0.991 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 50 16 24.24 27 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42736796 42736796 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736796 42736796 G A SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known silent c.1137 p.L379 0.999 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 49 17 25.76 27 0 0.00 GSK3A 2931 genome.wustl.edu 37 19 42736812 42736812 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 42736812 42736812 G A SNP GSK3A ENST00000222330 human ensembl 70_37 -1 known missense c.1121 p.P374L 0.961 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 49 13 20.97 29 0 0.00 GSN 2934 genome.wustl.edu 37 9 124062204 124062204 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 124062204 124062204 C T SNP GSN ENST00000373818 human ensembl 70_37 +1 known missense c.65 p.S22L 0.993 NULL pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC ENSG00000148180 9 9 50.00 9 0 0.00 GSN 2934 genome.wustl.edu 37 9 124073024 124073024 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 124073024 124073024 C G SNP GSN ENST00000373818 human ensembl 70_37 +1 known silent c.567 p.L189 1.000 smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC ENSG00000148180 55 15 21.43 93 0 0.00 GSN 2934 genome.wustl.edu 37 9 124074512 124074512 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 124074512 124074512 G A SNP GSN ENST00000485767 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors GSN HGNC ENSG00000148180 26 5 16.13 28 0 0.00 GSN 2934 genome.wustl.edu 37 9 124074856 124074857 + RNA INS - - A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 9 124074856 124074857 - A INS GSN ENST00000485767 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors GSN HGNC ENSG00000148180 9 3 25.00 20 0 0.00 GSN 2934 genome.wustl.edu 37 9 124074856 124074857 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 124074856 124074857 - A INS GSN ENST00000485767 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors GSN HGNC ENSG00000148180 8 5 38.46 10 0 0.00 GSN 2934 genome.wustl.edu 37 9 124079435 124079435 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 124079435 124079435 G C SNP GSN ENST00000373818 human ensembl 70_37 +1 known silent c.978 p.L326 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC ENSG00000148180 41 6 12.77 55 0 0.00 GSN 2934 genome.wustl.edu 37 9 124086857 124086857 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 124086857 124086857 G C SNP GSN ENST00000373818 human ensembl 70_37 +1 known missense c.1504 p.E502Q 1.000 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC ENSG00000148180 17 25 59.52 19 0 0.00 GSN 2934 genome.wustl.edu 37 9 124091306 124091306 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 124091306 124091306 G A SNP GSN ENST00000477553 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 17 18 51.43 42 0 0.00 GSN-AS1 57000 genome.wustl.edu 37 9 124046642 124046642 + RNA SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 124046642 124046642 C G SNP GSN-AS1 ENST00000414544 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GSN-AS1 HGNC ENSG00000235865 17 22 56.41 33 0 0.00 GSN-AS1 57000 genome.wustl.edu 37 9 124047340 124047340 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 124047340 124047340 G A SNP GSN-AS1 ENST00000414544 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GSN-AS1 HGNC ENSG00000235865 29 5 14.71 35 0 0.00 GSPT1 2935 genome.wustl.edu 37 16 11971344 11971344 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 11971344 11971344 C T SNP GSPT1 ENST00000434724 human ensembl 70_37 -1 known missense c.1522 p.E508K 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 23 25 52.08 57 0 0.00 GSPT1 2935 genome.wustl.edu 37 16 11984953 11984953 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11984953 11984953 C G SNP GSPT1 ENST00000434724 human ensembl 70_37 -1 known missense c.742 p.E248Q 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 39 12 22.64 54 0 0.00 GSPT2 23708 genome.wustl.edu 37 X 51487545 51487545 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 51487545 51487545 T C SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.823 p.Y275H 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 39 7 15.22 57 0 0.00 GSPT2 23708 genome.wustl.edu 37 X 51488154 51488154 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 51488154 51488154 G A SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.1432 p.D478N 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 22 19 46.34 30 0 0.00 GSPT2 23708 genome.wustl.edu 37 X 51488203 51488203 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 51488203 51488203 G C SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.1481 p.R494T 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 22 16 42.11 36 0 0.00 GSPT2 23708 genome.wustl.edu 37 X 51488448 51488448 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 51488448 51488448 G A SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.1726 p.V576M 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 41 11 21.15 66 0 0.00 GSR 2936 genome.wustl.edu 37 8 30539546 30539546 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 30539546 30539546 G A SNP GSR ENST00000221130 human ensembl 70_37 -1 known nonsense c.1186 p.R396* 0.991 tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 66 62 48.44 85 0 0.00 GSS 2937 genome.wustl.edu 37 20 33533875 33533875 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 33533875 33533875 G A SNP GSS ENST00000216951 human ensembl 70_37 -1 known silent c.156 p.L52 0.981 pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC ENSG00000100983 41 12 22.64 48 0 0.00 GSTA2 2939 genome.wustl.edu 37 6 52617759 52617759 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 52617759 52617759 C T SNP GSTA2 ENST00000493422 human ensembl 70_37 -1 known missense c.307 p.G103S 0.037 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 27 5 15.62 90 0 0.00 GSTA2 2939 genome.wustl.edu 37 6 52619832 52619832 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 52619832 52619832 C G SNP GSTA2 ENST00000493422 human ensembl 70_37 -1 known missense c.181 p.D61H 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 133 20 13.07 110 0 0.00 GSTA3 2940 genome.wustl.edu 37 6 52761709 52761709 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 52761709 52761709 G A SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known silent c.564 p.I188 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 133 37 21.76 191 0 0.00 GSTA3 2940 genome.wustl.edu 37 6 52764836 52764836 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 52764836 52764836 C G SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known missense c.310 p.E104Q 0.974 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 28 25 47.17 46 0 0.00 GSTA3 2940 genome.wustl.edu 37 6 52770548 52770548 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 52770548 52770548 C T SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known missense c.85 p.E29K 0.970 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 33 10 23.26 52 0 0.00 GSTA4 2941 genome.wustl.edu 37 6 52852197 52852197 + Nonsense_Mutation SNP C C A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 6 52852197 52852197 C A SNP GSTA4 ENST00000370959 human ensembl 70_37 -1 known nonsense c.97 p.E33* 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA4 HGNC ENSG00000170899 19 16 45.71 39 0 0.00 GSTA5 221357 genome.wustl.edu 37 6 52696763 52696763 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 52696763 52696763 C T SNP GSTA5 ENST00000284562 human ensembl 70_37 -1 known silent c.552 p.L184 0.462 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 80 27 25.23 136 0 0.00 GSTA5 221357 genome.wustl.edu 37 6 52701125 52701125 + Missense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 52701125 52701125 C A SNP GSTA5 ENST00000284562 human ensembl 70_37 -1 known missense c.181 p.D61Y 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 98 101 50.75 171 0 0.00 GSTCD 79807 genome.wustl.edu 37 4 106630022 106630022 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 106630022 106630022 C T SNP GSTCD ENST00000515255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTCD HGNC ENSG00000138780 43 28 39.44 66 0 0.00 GSTCD 79807 genome.wustl.edu 37 4 106640343 106640343 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 106640343 106640343 G A SNP GSTCD ENST00000360505 human ensembl 70_37 +1 known missense c.553 p.E185K 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 19 4 17.39 40 0 0.00 GSTM2 2946 genome.wustl.edu 37 1 110213924 110213924 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 110213924 110213924 G A SNP GSTM2 ENST00000241337 human ensembl 70_37 +1 known missense c.376 p.E126K 0.205 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM2 HGNC ENSG00000213366 46 39 45.88 85 0 0.00 GSTM3 2947 genome.wustl.edu 37 1 110279794 110279794 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 110279794 110279794 G A SNP GSTM3 ENST00000476321 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors GSTM3 HGNC ENSG00000134202 40 21 34.43 62 0 0.00 GSTM4 2948 genome.wustl.edu 37 1 110199374 110199374 + Nonsense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 110199374 110199374 C G SNP GSTM4 ENST00000369836 human ensembl 70_37 +1 known nonsense c.77 p.S26* 0.217 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 13 44 77.19 56 0 0.00 GSTM5 2949 genome.wustl.edu 37 1 110256232 110256232 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 110256232 110256232 C G SNP GSTM5 ENST00000492718 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTM5 HGNC ENSG00000134201 182 37 16.82 202 0 0.00 GSTO1 9446 genome.wustl.edu 37 10 106014929 106014929 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 106014929 106014929 C A SNP GSTO1 ENST00000369713 human ensembl 70_37 +1 known missense c.43 p.P15T 1.000 superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO1 HGNC ENSG00000148834 20 11 35.48 46 0 0.00 GSTP1 2950 genome.wustl.edu 37 11 67353729 67353729 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67353729 67353729 C T SNP GSTP1 ENST00000495996 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GSTP1 HGNC ENSG00000084207 64 21 24.71 59 0 0.00 GSTP1 2950 genome.wustl.edu 37 11 67353985 67353985 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67353985 67353985 C G SNP GSTP1 ENST00000398606 human ensembl 70_37 +1 known silent c.570 p.L190 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 60 18 23.08 95 0 0.00 GSTT1 2952 genome.wustl.edu 37 22 24381725 24381725 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 24381725 24381725 C T SNP GSTT1 ENST00000248935 human ensembl 70_37 -1 known missense c.175 p.D59N 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT1 HGNC ENSG00000184674 50 15 23.08 68 0 0.00 GSTT1 2952 genome.wustl.edu 37 22 24384148 24384148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 24384148 24384148 G C SNP GSTT1 ENST00000248935 human ensembl 70_37 -1 known missense c.84 p.F28L 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT1 HGNC ENSG00000184674 95 43 31.16 155 0 0.00 GSTT2 2953 genome.wustl.edu 37 22 24323194 24323194 + Silent SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 22 24323194 24323194 G A SNP GSTT2 ENST00000215780 human ensembl 70_37 +1 known silent c.168 p.T56 0.001 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2 HGNC ENSG00000099984 165 49 22.90 263 0 0.00 GSTT2 2953 genome.wustl.edu 37 22 24325062 24325062 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 24325062 24325062 G A SNP GSTT2 ENST00000215780 human ensembl 70_37 +1 known missense c.352 p.V118M 0.104 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2 HGNC ENSG00000099984 67 23 25.56 87 0 0.00 GSTT2B 653689 genome.wustl.edu 37 22 24302513 24302513 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 22 24302513 24302513 C T SNP GSTT2B ENST00000290765 human ensembl 70_37 -1 known silent c.168 p.T56 0.001 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2B HGNC ENSG00000133433 29 9 23.68 33 0 0.00 GSTTP2 653399 genome.wustl.edu 37 22 24401740 24401740 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 24401740 24401740 C T SNP GSTTP2 ENST00000389399 human ensembl 70_37 -1 known rna NULL NULL 0.959 - - - no_errors GSTTP2 HGNC ENSG00000239334 57 11 16.18 118 1 0.84 GSTZ1 2954 genome.wustl.edu 37 14 77797494 77797494 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 77797494 77797494 C T SNP GSTZ1 ENST00000216465 human ensembl 70_37 +1 known missense c.607 p.H203Y 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom - no_errors GSTZ1 HGNC ENSG00000100577 39 5 11.36 39 0 0.00 GSX1 219409 genome.wustl.edu 37 13 28367727 28367727 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 13 28367727 28367727 G A SNP GSX1 ENST00000302945 human ensembl 70_37 +1 known missense c.437 p.S146N 1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GSX1 HGNC ENSG00000169840 53 17 24.29 80 0 0.00 GSX2 170825 genome.wustl.edu 37 4 54966573 54966573 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 54966573 54966573 C T SNP GSX2 ENST00000326902 human ensembl 70_37 +1 known missense c.62 p.S21L 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 71 13 15.48 72 0 0.00 GTDC1 79712 genome.wustl.edu 37 2 144966248 144966248 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 144966248 144966248 G A SNP GTDC1 ENST00000344850 human ensembl 70_37 -1 known missense c.101 p.P34L 1.000 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 42 12 22.22 34 0 0.00 GTDC1 79712 genome.wustl.edu 37 2 144966322 144966322 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 144966322 144966322 G C SNP GTDC1 ENST00000344850 human ensembl 70_37 -1 known missense c.27 p.F9L 1.000 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 31 11 26.19 38 0 0.00 GTDC1 79712 genome.wustl.edu 37 2 144969112 144969113 + RNA INS - - G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 144969112 144969113 - G INS GTDC1 ENST00000467352 human ensembl 70_37 -1 known rna NULL NULL 0.990:0.988 - - - no_errors GTDC1 HGNC ENSG00000121964 62 16 20.51 93 0 0.00 GTDC2 84892 genome.wustl.edu 37 3 43122824 43122824 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 43122824 43122824 C T SNP GTDC2 ENST00000344697 human ensembl 70_37 -1 known missense c.100 p.E34K 1.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC ENSG00000144647 28 14 33.33 40 0 0.00 GTDC2 84892 genome.wustl.edu 37 3 43122913 43122913 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 43122913 43122913 G A SNP GTDC2 ENST00000344697 human ensembl 70_37 -1 known missense c.11 p.S4L 0.919 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC ENSG00000144647 25 7 21.88 24 0 0.00 GTF2A1 2957 genome.wustl.edu 37 14 81659058 81659058 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 81659058 81659058 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known silent c.738 p.A246 0.996 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 78 45 36.59 104 0 0.00 GTF2A1 2957 genome.wustl.edu 37 14 81659136 81659136 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 81659136 81659136 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known silent c.660 p.I220 1.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 11 8 42.11 50 0 0.00 GTF2A1 2957 genome.wustl.edu 37 14 81670289 81670289 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 81670289 81670289 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known nonsense c.292 p.Q98* 1.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 19 13 40.62 31 0 0.00 GTF2A2 2958 genome.wustl.edu 37 15 59934407 59934407 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 59934407 59934407 C T SNP GTF2A2 ENST00000396060 human ensembl 70_37 -1 known missense c.232 p.D78N 1.000 pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu - no_errors GTF2A2 HGNC ENSG00000140307 36 10 21.74 63 0 0.00 GTF2E1 2960 genome.wustl.edu 37 3 120469678 120469678 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 120469678 120469678 C G SNP GTF2E1 ENST00000283875 human ensembl 70_37 +1 known missense c.279 p.F93L 0.997 pfam_TFIIEa/SarR/Rpc3_HTH_dom,smart_TFIIE_asu pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 51 7 12.07 64 0 0.00 GTF2E2 2961 genome.wustl.edu 37 8 30437888 30437888 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 30437888 30437888 G A SNP GTF2E2 ENST00000355904 human ensembl 70_37 -1 known silent c.669 p.V223 1.000 pirsf_TFIIE-bsu pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu - no_errors GTF2E2 HGNC ENSG00000197265 8 5 38.46 40 0 0.00 GTF2F1 2962 genome.wustl.edu 37 19 6380388 6380388 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 6380388 6380388 G A SNP GTF2F1 ENST00000394456 human ensembl 70_37 -1 known silent c.1458 p.S486 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 132 50 27.32 241 0 0.00 GTF2F2 2963 genome.wustl.edu 37 13 45781539 45781540 + RNA INS - - T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 45781539 45781540 - T INS GTF2F2 ENST00000494087 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 24 6 20.00 40 0 0.00 GTF2F2 2963 genome.wustl.edu 37 13 45841511 45841511 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 45841511 45841511 G T SNP GTF2F2 ENST00000340473 human ensembl 70_37 +1 known silent c.630 p.V210 1.000 pfam_TFIIF_beta,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 23 3 11.54 50 0 0.00 GTF2H1 2965 genome.wustl.edu 37 11 18359719 18359719 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18359719 18359719 C T SNP GTF2H1 ENST00000265963 human ensembl 70_37 +1 known silent c.411 p.I137 1.000 pfam_BSD,smart_BSD,pfscan_BSD pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD - no_errors GTF2H1 HGNC ENSG00000110768 55 51 48.11 103 0 0.00 GTF2H3 2967 genome.wustl.edu 37 12 124132555 124132555 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124132555 124132555 C T SNP GTF2H3 ENST00000543341 human ensembl 70_37 +1 known silent c.246 p.F82 0.890 pfam_TF_Tfb4,tigrfam_TF_Tfb4 pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC ENSG00000111358 13 3 18.75 17 0 0.00 GTF2H3 2967 genome.wustl.edu 37 12 124144781 124144781 + Nonstop_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 124144781 124144781 G C SNP GTF2H3 ENST00000543341 human ensembl 70_37 +1 known nonstop c.926 p.*309S 0.444 NULL pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC ENSG00000111358 11 6 35.29 17 0 0.00 GTF2H4 2968 genome.wustl.edu 37 6 30880141 30880141 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30880141 30880141 C T SNP GTF2H4 ENST00000259895 human ensembl 70_37 +1 known missense c.995 p.S332F 1.000 pfam_Tfb2,tigrfam_Tfb2 pfam_Tfb2,tigrfam_Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 7 4 36.36 19 0 0.00 GTF2I 2969 genome.wustl.edu 37 7 74113412 74113412 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 74113412 74113412 C T SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known silent c.360 p.F120 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 45 15 25.00 44 0 0.00 GTF2I 2969 genome.wustl.edu 37 7 74157852 74157852 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74157852 74157852 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known missense c.1743 p.L581F 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 51 8 13.56 46 0 0.00 GTF2I 2969 genome.wustl.edu 37 7 74169840 74169840 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 74169840 74169840 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known splice_site c.2826-1 e30-1 1.000 - - - no_errors GTF2I HGNC ENSG00000077809 12 22 64.71 36 0 0.00 GTF2I 2969 genome.wustl.edu 37 7 74172300 74172300 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74172300 74172300 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known missense c.2905 p.E969Q 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 106 16 13.11 85 0 0.00 GTF2IRD1 9569 genome.wustl.edu 37 7 73927291 73927291 + Silent SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 73927291 73927291 C A SNP GTF2IRD1 ENST00000265755 human ensembl 70_37 +1 known silent c.255 p.L85 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 52 6 10.34 48 0 0.00 GTF2IRD1 9569 genome.wustl.edu 37 7 74005296 74005296 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74005296 74005296 G T SNP GTF2IRD1 ENST00000265755 human ensembl 70_37 +1 known missense c.2586 p.K862N 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 27 6 18.18 21 0 0.00 GTF2IRD1 9569 genome.wustl.edu 37 7 74016760 74016760 + Nonstop_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 74016760 74016760 G C SNP GTF2IRD1 ENST00000265755 human ensembl 70_37 +1 known nonstop c.2880 p.*960Y 1.000 NULL pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 98 29 22.83 140 0 0.00 GTF2IRD2 84163 genome.wustl.edu 37 7 74211261 74211261 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 74211261 74211261 C T SNP GTF2IRD2 ENST00000405086 human ensembl 70_37 -1 known missense c.2590 p.E864K 0.885 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 8 5 38.46 21 0 0.00 GTF2IRD2 84163 genome.wustl.edu 37 7 74211579 74211579 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 74211579 74211579 C T SNP GTF2IRD2 ENST00000405086 human ensembl 70_37 -1 known missense c.2272 p.D758N 0.913 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 22 10 31.25 18 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72657426 72657426 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72657426 72657426 G C SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.611 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 69 12 14.81 65 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72657941 72657941 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 72657941 72657941 C G SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.835 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 55 27 32.53 40 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72658807 72658807 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 7 72658807 72658807 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 145 35 19.44 115 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72658866 72658866 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 72658866 72658866 G T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 122 23 15.86 85 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72663974 72663974 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 72663974 72663974 G T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 25 4 13.79 43 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 23 4 14.81 18 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 8 4 33.33 10 0 0.00 GTF2IRD2P1 401375 genome.wustl.edu 37 7 72683349 72683349 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 72683349 72683349 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.323 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 26 31 54.39 44 0 0.00 GTF3A 2971 genome.wustl.edu 37 13 27999140 27999140 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 27999140 27999140 C T SNP GTF3A ENST00000438571 human ensembl 70_37 +1 known missense c.266 p.A89V 0.000 NULL pfscan_Znf_C2H2 - no_errors GTF3A HGNC ENSG00000122034 21 14 40.00 39 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27471985 27471986 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 27471985 27471986 - T INS GTF3C1 ENST00000567806 human ensembl 70_37 -1 known rna NULL NULL 0.603:0.466 - - - no_errors GTF3C1 HGNC ENSG00000077235 75 14 15.73 38 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27472703 27472703 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 27472703 27472703 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.6298 p.E2100K 0.956 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 50 10 16.67 45 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27472852 27472852 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 27472852 27472852 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.6149 p.R2050H 0.007 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 31 19 36.54 48 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27475925 27475925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 27475925 27475925 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.5588 p.R1863H 0.019 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 43 16 26.67 57 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27475971 27475971 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 27475971 27475971 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.5542 p.E1848K 0.012 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 43 28 38.89 65 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27480781 27480781 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 27480781 27480781 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known silent c.4905 p.V1635 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 39 9 18.75 107 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27481442 27481442 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27481442 27481442 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.4801 p.E1601K 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 56 13 18.84 55 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27504033 27504033 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 16 27504033 27504033 G A SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.2878 p.R960C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 13 9 40.91 26 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27517406 27517406 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 27517406 27517406 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.1584 p.L528F 0.372 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 62 15 19.48 50 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27519901 27519901 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 27519901 27519901 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.1202 p.R401T 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 64 16 20.00 73 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27556663 27556663 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 27556663 27556663 G A SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.403 p.R135C 0.008 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 40 32 44.44 76 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27561120 27561120 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 27561120 27561120 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.92 p.R31Q 0.997 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 76 9 10.59 56 0 0.00 GTF3C1 2975 genome.wustl.edu 37 16 27561137 27561137 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 27561137 27561137 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.75 p.W25C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 28 20 41.67 49 0 0.00 GTF3C2 2976 genome.wustl.edu 37 2 27551770 27551770 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27551770 27551770 C G SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known missense c.2068 p.D690H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 23 3 11.54 25 0 0.00 GTF3C2 2976 genome.wustl.edu 37 2 27565900 27565900 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 27565900 27565900 G T SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known nonsense c.362 p.S121* 0.958 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 121 45 27.11 147 0 0.00 GTF3C2 2976 genome.wustl.edu 37 2 27566306 27566306 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27566306 27566306 G C SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known missense c.116 p.S39C 0.603 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 15 18 54.55 14 0 0.00 GTF3C4 9329 genome.wustl.edu 37 9 135546243 135546243 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 135546243 135546243 C T SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known silent c.258 p.I86 0.998 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 26 8 23.53 59 0 0.00 GTF3C4 9329 genome.wustl.edu 37 9 135553529 135553529 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135553529 135553529 G A SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known missense c.523 p.D175N 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 22 7 24.14 31 0 0.00 GTF3C4 9329 genome.wustl.edu 37 9 135553957 135553957 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 135553957 135553957 T C SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known silent c.951 p.F317 0.948 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 18 5 21.74 32 0 0.00 GTF3C5 9328 genome.wustl.edu 37 9 135906463 135906463 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 135906463 135906463 G A SNP GTF3C5 ENST00000372108 human ensembl 70_37 +1 known missense c.65 p.R22Q 0.046 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 63 17 21.25 85 0 0.00 GTF3C5 9328 genome.wustl.edu 37 9 135919210 135919210 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 135919210 135919210 G A SNP GTF3C5 ENST00000372108 human ensembl 70_37 +1 known missense c.469 p.E157K 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 53 10 15.87 50 0 0.00 GTF3C5 9328 genome.wustl.edu 37 9 135931307 135931307 + RNA SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 135931307 135931307 G C SNP GTF3C5 ENST00000489842 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GTF3C5 HGNC ENSG00000148308 16 6 27.27 14 0 0.00 GTF3C6 112495 genome.wustl.edu 37 6 111279991 111279991 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 111279991 111279991 G T SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known nonsense c.19 p.E7* 0.004 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 54 34 38.64 77 0 0.00 GTF3C6 112495 genome.wustl.edu 37 6 111283616 111283616 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 111283616 111283616 A C SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.269 p.K90T 1.000 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 12 10 45.45 28 0 0.00 GTF3C6 112495 genome.wustl.edu 37 6 111288815 111288815 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111288815 111288815 C T SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.464 p.S155L 0.422 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 71 26 26.80 83 0 0.00 GTF3C6 112495 genome.wustl.edu 37 6 111288847 111288847 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111288847 111288847 G A SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.496 p.E166K 0.733 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 65 35 34.65 96 0 0.00 GTPBP1 9567 genome.wustl.edu 37 22 39101980 39101980 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 39101980 39101980 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known missense c.20 p.R7H 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 19 14 41.18 43 0 0.00 GTPBP1 9567 genome.wustl.edu 37 22 39112087 39112087 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 39112087 39112087 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known silent c.480 p.E160 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 24 5 17.24 54 0 0.00 GTPBP1 9567 genome.wustl.edu 37 22 39112679 39112679 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 22 39112679 39112679 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known missense c.508 p.D170N 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 33 6 15.38 49 0 0.00 GTPBP1 9567 genome.wustl.edu 37 22 39117746 39117746 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39117746 39117746 G C SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known splice_site c.835-1 e5-1 1.000 - - - no_errors GTPBP1 HGNC ENSG00000100226 13 17 56.67 26 0 0.00 GTPBP10 85865 genome.wustl.edu 37 7 90012327 90012327 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 90012327 90012327 A G SNP GTPBP10 ENST00000222511 human ensembl 70_37 +1 known missense c.835 p.K279E 1.000 pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 17 4 19.05 12 0 0.00 GTPBP2 54676 genome.wustl.edu 37 6 43588571 43588571 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 43588571 43588571 G C SNP GTPBP2 ENST00000476510 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors GTPBP2 HGNC ENSG00000172432 16 7 30.43 29 0 0.00 GTPBP2 54676 genome.wustl.edu 37 6 43591477 43591477 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43591477 43591477 G C SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known missense c.1292 p.S431C 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 81 21 20.59 142 0 0.00 GTPBP2 54676 genome.wustl.edu 37 6 43591721 43591721 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 43591721 43591721 G A SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known silent c.1185 p.L395 0.961 NULL pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 132 23 14.84 123 1 0.81 GTPBP2 54676 genome.wustl.edu 37 6 43596854 43596854 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 43596854 43596854 C A SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known nonsense c.46 p.G16* 0.999 NULL pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 9 5 33.33 9 0 0.00 GTPBP4 23560 genome.wustl.edu 37 10 1042198 1042198 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 1042198 1042198 C T SNP GTPBP4 ENST00000491635 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GTPBP4 HGNC ENSG00000107937 16 10 38.46 32 0 0.00 GTPBP4 23560 genome.wustl.edu 37 10 1046733 1046733 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 1046733 1046733 G A SNP GTPBP4 ENST00000360803 human ensembl 70_37 +1 known silent c.771 p.L257 0.997 pfam_NOG1_Rossman_fold_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,tigrfam_Small_GTP-bd_dom pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 107 30 21.90 161 0 0.00 GTPBP4 23560 genome.wustl.edu 37 10 1061781 1061781 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 1061781 1061781 G A SNP GTPBP4 ENST00000360803 human ensembl 70_37 +1 known missense c.1697 p.R566Q 1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 84 44 34.38 136 0 0.00 MTG2 26164 genome.wustl.edu 37 20 60768573 60768573 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 60768573 60768573 C T SNP GTPBP5 ENST00000370823 human ensembl 70_37 +1 known missense c.97 p.R33W 0.000 NULL pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors GTPBP5 HGNC ENSG00000101181 49 9 15.52 71 0 0.00 MTG2 26164 genome.wustl.edu 37 20 60772729 60772729 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 60772729 60772729 G A SNP GTPBP5 ENST00000461411 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors GTPBP5 HGNC ENSG00000101181 2 11 84.62 16 0 0.00 GTPBP6 8225 genome.wustl.edu 37 X 229380 229380 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 229380 229380 C T SNP GTPBP6 ENST00000485332 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GTPBP6 HGNC ENSG00000178605 2 11 84.62 11 0 0.00 GTPBP6 8225 genome.wustl.edu 37 X 229380 229380 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 229380 229380 C T SNP GTPBP6 ENST00000485332 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GTPBP6 HGNC ENSG00000178605 2 16 88.89 25 0 0.00 GTPBP8 29083 genome.wustl.edu 37 3 112714067 112714067 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 112714067 112714067 A G SNP GTPBP8 ENST00000383678 human ensembl 70_37 +1 known missense c.521 p.E174G 1.000 pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 15 13 46.43 39 0 0.00 GTSE1 51512 genome.wustl.edu 37 22 46722476 46722476 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 46722476 46722476 C G SNP GTSE1 ENST00000454366 human ensembl 70_37 +1 known missense c.1649 p.P550R 0.254 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 50 16 24.24 78 0 0.00 GTSE1 51512 genome.wustl.edu 37 22 46725458 46725458 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 46725458 46725458 G T SNP GTSE1 ENST00000454366 human ensembl 70_37 +1 known silent c.2130 p.V710 0.058 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 16 3 15.79 37 0 0.00 GTSF1 121355 genome.wustl.edu 37 12 54856430 54856430 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 54856430 54856430 A C SNP GTSF1 ENST00000546931 human ensembl 70_37 -1 known missense c.324 p.D108E 0.996 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1 HGNC ENSG00000170627 39 9 18.75 63 0 0.00 GTSF1 121355 genome.wustl.edu 37 12 54858833 54858833 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54858833 54858833 G C SNP GTSF1 ENST00000548538 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors GTSF1 HGNC ENSG00000170627 28 16 36.36 43 0 0.00 GUCA1A 2978 genome.wustl.edu 37 6 42141390 42141390 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42141390 42141390 G A SNP GUCA1A ENST00000053469 human ensembl 70_37 +1 known silent c.39 p.L13 1.000 prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1A HGNC ENSG00000048545 26 19 42.22 30 0 0.00 GUCA1A 2978 genome.wustl.edu 37 6 42146128 42146128 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 42146128 42146128 C T SNP GUCA1A ENST00000053469 human ensembl 70_37 +1 known silent c.312 p.N104 0.992 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1A HGNC ENSG00000048545 44 26 37.14 59 0 0.00 GUCY1A2 2977 genome.wustl.edu 37 11 106680942 106680942 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 106680942 106680942 G T SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1469 p.T490K 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 18 3 14.29 80 0 0.00 GUCY1A2 2977 genome.wustl.edu 37 11 106681012 106681012 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 106681012 106681012 T C SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1399 p.K467E 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 44 11 20.00 50 0 0.00 GUCY1A2 2977 genome.wustl.edu 37 11 106681104 106681104 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 106681104 106681104 C T SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1307 p.R436Q 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 16 12 42.86 30 0 0.00 GUCY1A2 2977 genome.wustl.edu 37 11 106810318 106810318 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 106810318 106810318 G A SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known silent c.1074 p.L358 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 22 8 26.67 55 0 0.00 GUCY1A2 2977 genome.wustl.edu 37 11 106856836 106856836 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 106856836 106856836 G A SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.325 p.L109F 1.000 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 15 7 31.82 26 0 0.00 GUCY1A3 2982 genome.wustl.edu 37 4 156632145 156632145 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 156632145 156632145 G A SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known silent c.828 p.V276 0.935 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 31 12 27.91 21 0 0.00 GUCY1A3 2982 genome.wustl.edu 37 4 156632252 156632252 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 156632252 156632252 G A SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known missense c.935 p.R312K 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 32 9 21.95 30 0 0.00 GUCY1A3 2982 genome.wustl.edu 37 4 156632318 156632318 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 4 156632318 156632318 C T SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known missense c.1001 p.T334M 0.315 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 46 17 26.98 43 0 0.00 GUCY1A3 2982 genome.wustl.edu 37 4 156632396 156632396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 156632396 156632396 C G SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known missense c.1079 p.S360C 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 24 17 41.46 31 0 0.00 GUCY1A3 2982 genome.wustl.edu 37 4 156643280 156643280 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 156643280 156643280 C T SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known silent c.1807 p.L603 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 29 32 50.79 64 0 0.00 GUCY1B2 2974 genome.wustl.edu 37 13 51568837 51568837 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51568837 51568837 C A SNP GUCY1B2 ENST00000493639 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors GUCY1B2 HGNC ENSG00000123201 15 9 37.50 24 0 0.00 GUCY1B2 2974 genome.wustl.edu 37 13 51599571 51599571 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 51599571 51599571 G A SNP GUCY1B2 ENST00000389600 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors GUCY1B2 HGNC ENSG00000123201 26 15 34.09 28 0 0.00 GUCY1B3 2983 genome.wustl.edu 37 4 156698760 156698760 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 156698760 156698760 G A SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known missense c.263 p.R88H 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 12 5 29.41 51 0 0.00 GUCY1B3 2983 genome.wustl.edu 37 4 156711018 156711018 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 156711018 156711018 C T SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.450 p.I150 0.992 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 24 4 14.29 23 0 0.00 GUCY1B3 2983 genome.wustl.edu 37 4 156723364 156723364 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 156723364 156723364 G C SNP GUCY1B3 ENST00000507146 human ensembl 70_37 +1 putative splice_site c.972-1 e7-1 0.000 - - - no_errors GUCY1B3 HGNC ENSG00000061918 16 7 30.43 12 0 0.00 GUCY1B3 2983 genome.wustl.edu 37 4 156723668 156723668 + Silent SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 156723668 156723668 C G SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.1350 p.L450 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 13 7 35.00 23 0 0.00 GUCY1B3 2983 genome.wustl.edu 37 4 156724850 156724850 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 156724850 156724850 C T SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.1488 p.I496 0.986 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 18 19 51.35 51 0 0.00 GUCY2C 2984 genome.wustl.edu 37 12 14794077 14794077 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 14794077 14794077 G A SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known silent c.2007 p.I669 0.521 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 35 14 28.00 74 0 0.00 GUCY2C 2984 genome.wustl.edu 37 12 14836077 14836077 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 14836077 14836077 G C SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known missense c.510 p.F170L 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 99 20 16.81 120 0 0.00 GUCY2C 2984 genome.wustl.edu 37 12 14840906 14840906 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 14840906 14840906 G C SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known silent c.309 p.L103 0.006 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 17 7 29.17 29 0 0.00 GUCY2D 3000 genome.wustl.edu 37 17 7909952 7909952 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 7909952 7909952 G A SNP GUCY2D ENST00000254854 human ensembl 70_37 +1 known missense c.1298 p.R433Q 0.007 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2D HGNC ENSG00000132518 78 20 20.41 98 0 0.00 GUCY2D 3000 genome.wustl.edu 37 17 7917302 7917302 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7917302 7917302 G C SNP GUCY2D ENST00000254854 human ensembl 70_37 +1 known missense c.2368 p.E790Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2D HGNC ENSG00000132518 25 10 27.78 42 0 0.00 GUCY2D 3000 genome.wustl.edu 37 17 7919320 7919320 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 7919320 7919320 G C SNP GUCY2D ENST00000254854 human ensembl 70_37 +1 known missense c.3119 p.R1040P 0.945 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2D HGNC ENSG00000132518 16 11 40.74 22 0 0.00 GUCY2EP 390226 genome.wustl.edu 37 11 76415304 76415304 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 76415304 76415304 T G SNP GUCY2EP ENST00000526984 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GUCY2EP HGNC ENSG00000204529 26 13 33.33 57 0 0.00 GUCY2F 2986 genome.wustl.edu 37 X 108652353 108652353 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108652353 108652353 G T SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1836 p.F612L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 17 10 37.04 43 0 0.00 GUCY2F 2986 genome.wustl.edu 37 X 108673542 108673542 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 108673542 108673542 G A SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known silent c.1785 p.F595 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 369 287 43.68 579 1 0.17 GUCY2F 2986 genome.wustl.edu 37 X 108696806 108696806 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 108696806 108696806 G A SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1315 p.H439Y 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 46 25 35.21 67 0 0.00 GUCY2F 2986 genome.wustl.edu 37 X 108696910 108696910 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 108696910 108696910 G A SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1211 p.S404L 0.988 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 28 13 31.71 39 0 0.00 GUCY2F 2986 genome.wustl.edu 37 X 108696942 108696942 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 X 108696942 108696942 C G SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1179 p.L393F 0.993 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 41 12 22.64 39 0 0.00 GUCY2F 2986 genome.wustl.edu 37 X 108718759 108718759 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 108718759 108718759 G C SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.407 p.S136W 0.037 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 34 6 15.00 23 0 0.00 GUF1 60558 genome.wustl.edu 37 4 44691410 44691410 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 44691410 44691410 C T SNP GUF1 ENST00000281543 human ensembl 70_37 +1 known silent c.1186 p.L396 0.546 superfamily_Elongation_fac_G/III/V,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 15 20 57.14 33 0 0.00 GUF1 60558 genome.wustl.edu 37 4 44691410 44691410 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 44691410 44691410 C T SNP GUF1 ENST00000281543 human ensembl 70_37 +1 known silent c.1186 p.L396 0.546 superfamily_Elongation_fac_G/III/V,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 50 53 51.46 192 0 0.00 GUK1 2987 genome.wustl.edu 37 1 228333448 228333448 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228333448 228333448 C G SNP GUK1 ENST00000470040 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors GUK1 HGNC ENSG00000143774 25 15 37.50 20 0 0.00 GUK1 2987 genome.wustl.edu 37 1 228334423 228334423 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 228334423 228334423 G A SNP GUK1 ENST00000470040 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GUK1 HGNC ENSG00000143774 19 11 36.67 22 0 0.00 GUK1 2987 genome.wustl.edu 37 1 228335273 228335273 + RNA SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 228335273 228335273 G T SNP GUK1 ENST00000477206 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors GUK1 HGNC ENSG00000143774 16 3 15.79 26 0 0.00 GUK1 2987 genome.wustl.edu 37 1 228336139 228336139 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228336139 228336139 G C SNP GUK1 ENST00000366723 human ensembl 70_37 +1 known nonstop c.656 p.*219S 0.889 NULL pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub - no_errors GUK1 HGNC ENSG00000143774 33 16 32.65 46 0 0.00 GULP1 51454 genome.wustl.edu 37 2 189387534 189387534 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 189387534 189387534 G A SNP GULP1 ENST00000359135 human ensembl 70_37 +1 known missense c.142 p.D48N 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors GULP1 HGNC ENSG00000144366 29 18 38.30 57 0 0.00 GULP1 51454 genome.wustl.edu 37 2 189458715 189458715 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 189458715 189458715 G A SNP GULP1 ENST00000359135 human ensembl 70_37 +1 known missense c.892 p.D298N 1.000 NULL pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors GULP1 HGNC ENSG00000144366 5 5 50.00 26 0 0.00 GUSB 2990 genome.wustl.edu 37 7 65439567 65439567 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 65439567 65439567 T C SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.1190 p.D397G 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 56 10 14.93 57 0 0.00 GUSB 2990 genome.wustl.edu 37 7 65439917 65439917 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65439917 65439917 C T SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.1054 p.E352K 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 37 16 30.19 42 0 0.00 GUSB 2990 genome.wustl.edu 37 7 65440021 65440021 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 65440021 65440021 G A SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.950 p.S317F 0.046 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 108 23 17.56 157 0 0.00 GUSB 2990 genome.wustl.edu 37 7 65440036 65440036 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 65440036 65440036 G A SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.935 p.S312L 0.001 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 96 20 17.24 137 0 0.00 GUSBP2 387036 genome.wustl.edu 37 6 26892977 26892977 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26892977 26892977 C T SNP GUSBP2 ENST00000463434 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GUSBP2 HGNC ENSG00000241549 169 39 18.66 127 0 0.00 GUSBP5 441046 genome.wustl.edu 37 4 144481029 144481029 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 144481029 144481029 C G SNP GUSBP5 ENST00000509369 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors GUSBP5 HGNC ENSG00000236296 48 16 25.00 133 0 0.00 GUSBP5 441046 genome.wustl.edu 37 4 144481154 144481154 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 144481154 144481154 C T SNP GUSBP5 ENST00000509369 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors GUSBP5 HGNC ENSG00000236296 38 11 22.45 50 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6738144 6738144 + RNA SNP T T C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 6738144 6738144 T C SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 26 4 13.33 53 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6738168 6738168 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 11 6738168 6738168 C A SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors GVINP1 HGNC ENSG00000254838 16 18 52.94 46 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6738700 6738700 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6738700 6738700 C G SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 21 11 34.38 29 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6740009 6740009 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 6740009 6740009 C T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 16 10 38.46 22 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6740012 6740012 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6740012 6740012 C T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 15 6 28.57 14 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6740075 6740075 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 6740075 6740075 G T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors GVINP1 HGNC ENSG00000254838 7 3 30.00 32 0 0.00 GVINP1 387751 genome.wustl.edu 37 11 6741666 6741666 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6741666 6741666 A C SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 19 13 40.62 54 0 0.00 GXYLT1 283464 genome.wustl.edu 37 12 42499642 42499642 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 42499642 42499642 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.842 p.R281Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 37 27 42.19 25 0 0.00 GXYLT1 283464 genome.wustl.edu 37 12 42499642 42499642 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 42499642 42499642 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.842 p.R281Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 61 50 44.64 95 0 0.00 GXYLT1 283464 genome.wustl.edu 37 12 42503418 42503418 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 42503418 42503418 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.562 p.E188K 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 18 8 30.77 43 0 0.00 GXYLT1 283464 genome.wustl.edu 37 12 42512938 42512938 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 42512938 42512938 T A SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.350 p.H117L 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 41 7 14.58 46 0 0.00 GYG1 2992 genome.wustl.edu 37 3 148711992 148711992 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 148711992 148711992 C T SNP GYG1 ENST00000345003 human ensembl 70_37 +1 known missense c.71 p.S24L 0.989 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 25 10 28.57 52 0 0.00 GYG1 2992 genome.wustl.edu 37 3 148714544 148714544 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 148714544 148714544 G A SNP GYG1 ENST00000345003 human ensembl 70_37 +1 known missense c.334 p.D112N 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 49 9 15.52 35 0 0.00 GYG2 8908 genome.wustl.edu 37 X 2748123 2748123 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 2748123 2748123 C T SNP GYG2 ENST00000381161 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GYG2 HGNC ENSG00000056998 37 26 41.27 41 0 0.00 GYG2 8908 genome.wustl.edu 37 X 2773193 2773193 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 2773193 2773193 G T SNP GYG2 ENST00000381163 human ensembl 70_37 +1 known missense c.577 p.D193Y 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 32 4 11.11 32 0 0.00 GYLTL1B 120071 genome.wustl.edu 37 11 45948919 45948919 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 45948919 45948919 C T SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known missense c.1379 p.A460V 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 47 14 22.95 55 0 0.00 GYLTL1B 120071 genome.wustl.edu 37 11 45948953 45948953 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 45948953 45948953 C A SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known missense c.1413 p.F471L 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 55 22 28.57 62 0 0.00 GYLTL1B 120071 genome.wustl.edu 37 11 45949830 45949830 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 45949830 45949830 C T SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known silent c.1857 p.Y619 0.691 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 30 21 41.18 40 0 0.00 GYPB 2994 genome.wustl.edu 37 4 144940464 144940464 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144940464 144940464 G C SNP GYPB ENST00000507009 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GYPB HGNC ENSG00000250361 28 11 28.21 37 0 0.00 GYS1 2997 genome.wustl.edu 37 19 49472556 49472556 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49472556 49472556 C G SNP GYS1 ENST00000323798 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 13 2 13.33 12 0 0.00 GYS1 2997 genome.wustl.edu 37 19 49481228 49481228 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49481228 49481228 C G SNP GYS1 ENST00000323798 human ensembl 70_37 -1 known missense c.1261 p.D421H 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 26 8 23.53 29 0 0.00 GYS2 2998 genome.wustl.edu 37 12 21695523 21695523 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 21695523 21695523 C G SNP GYS2 ENST00000261195 human ensembl 70_37 -1 known missense c.1552 p.E518Q 1.000 pfam_Glycogen_synth,pfam_Glyco_trans_1 pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 27 18 40.00 41 0 0.00 GYS2 2998 genome.wustl.edu 37 12 21711236 21711236 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 21711236 21711236 C A SNP GYS2 ENST00000261195 human ensembl 70_37 -1 known missense c.1320 p.L440F 0.901 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 18 20 52.63 46 0 0.00 GZMA 3001 genome.wustl.edu 37 5 54403737 54403737 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 54403737 54403737 C T SNP GZMA ENST00000274306 human ensembl 70_37 +1 known missense c.331 p.R111C 0.022 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 57 8 12.31 61 0 0.00 GZMB 3002 genome.wustl.edu 37 14 25101087 25101087 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 25101087 25101087 C T SNP GZMB ENST00000382542 human ensembl 70_37 -1 known missense c.679 p.E227K 0.002 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMB HGNC ENSG00000100453 52 31 37.35 107 0 0.00 GZMK 3003 genome.wustl.edu 37 5 54329656 54329656 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 54329656 54329656 G C SNP GZMK ENST00000231009 human ensembl 70_37 +1 known missense c.697 p.E233Q 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 44 35 43.75 63 0 0.00 GZMM 3004 genome.wustl.edu 37 19 549708 549708 + Missense_Mutation SNP A A C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 549708 549708 A C SNP GZMM ENST00000264553 human ensembl 70_37 +1 known missense c.691 p.T231P 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMM HGNC ENSG00000197540 48 33 40.74 45 0 0.00 H19 283120 genome.wustl.edu 37 11 2016562 2016562 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 2016562 2016562 C T SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors H19 HGNC ENSG00000130600 19 6 24.00 42 0 0.00 H19 283120 genome.wustl.edu 37 11 2016662 2016662 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 2016662 2016662 T C SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC ENSG00000130600 31 4 11.43 39 0 0.00 H19 283120 genome.wustl.edu 37 11 2017210 2017210 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 2017210 2017210 G C SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors H19 HGNC ENSG00000130600 56 17 23.29 52 0 0.00 H1F0 3005 genome.wustl.edu 37 22 38201771 38201771 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 38201771 38201771 C T SNP H1F0 ENST00000340857 human ensembl 70_37 +1 known missense c.220 p.R74C 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1F0 HGNC ENSG00000189060 68 51 42.86 157 0 0.00 H1F0 3005 genome.wustl.edu 37 22 38201875 38201875 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 22 38201875 38201875 G C SNP H1F0 ENST00000340857 human ensembl 70_37 +1 known missense c.324 p.K108N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1F0 HGNC ENSG00000189060 23 18 43.90 18 0 0.00 H1FNT 341567 genome.wustl.edu 37 12 48723250 48723250 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 48723250 48723250 G C SNP H1FNT ENST00000335017 human ensembl 70_37 +1 known missense c.176 p.R59T 0.039 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 18 6 25.00 35 0 0.00 H1FOO 132243 genome.wustl.edu 37 3 129270146 129270146 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 129270146 129270146 C T SNP H1FOO ENST00000324382 human ensembl 70_37 +1 known missense c.1004 p.S335L 0.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors H1FOO HGNC ENSG00000178804 44 8 15.38 32 0 0.00 H1FX 8971 genome.wustl.edu 37 3 129034730 129034730 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 129034730 129034730 C G SNP H1FX ENST00000333762 human ensembl 70_37 -1 known missense c.16 p.E6Q 0.536 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1FX HGNC ENSG00000184897 11 8 42.11 8 0 0.00 H1FX-AS1 339942 genome.wustl.edu 37 3 129044099 129044099 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 129044099 129044099 G C SNP H1FX-AS1 ENST00000383461 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors H1FX-AS1 HGNC ENSG00000206417 40 19 32.20 63 0 0.00 H2AFX 3014 genome.wustl.edu 37 11 118965703 118965703 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 118965703 118965703 C G SNP H2AFX ENST00000375167 human ensembl 70_37 -1 known missense c.402 p.K134N 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFX HGNC ENSG00000188486 34 9 20.93 59 0 0.00 H2BFM 286436 genome.wustl.edu 37 X 103294856 103294856 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 103294856 103294856 C T SNP H2BFM ENST00000243297 human ensembl 70_37 +1 known missense c.622 p.H208Y 0.161 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFM HGNC ENSG00000101812 74 34 31.48 95 0 0.00 H2BFWT 158983 genome.wustl.edu 37 X 103267770 103267770 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 103267770 103267770 C G SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.463 p.E155Q 0.996 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 75 21 21.88 78 0 0.00 H2BFWT 158983 genome.wustl.edu 37 X 103268214 103268214 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 103268214 103268214 G A SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.19 p.P7S 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 95 31 24.60 109 0 0.00 H2BFWT 158983 genome.wustl.edu 37 X 103268225 103268225 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 103268225 103268225 C T SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.8 p.R3H 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 22 11 33.33 25 0 0.00 H3F3A 3020 genome.wustl.edu 37 1 226252059 226252059 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 226252059 226252059 C T SNP H3F3A ENST00000366813 human ensembl 70_37 +1 known missense c.7 p.R3C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 58 19 24.68 67 0 0.00 H3F3A 3020 genome.wustl.edu 37 1 226252066 226252066 + Missense_Mutation SNP A A T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 226252066 226252066 A T SNP H3F3A ENST00000366813 human ensembl 70_37 +1 known missense c.14 p.K5M 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 61 36 37.11 81 0 0.00 H3F3B 3021 genome.wustl.edu 37 17 73774737 73774737 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73774737 73774737 C T SNP H3F3B ENST00000254810 human ensembl 70_37 -1 known missense c.350 p.R117K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 61 14 18.67 58 0 0.00 H3F3B 3021 genome.wustl.edu 37 17 73774739 73774739 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73774739 73774739 C T SNP H3F3B ENST00000592643 human ensembl 70_37 -1 putative missense c.275 p.R92K 1.000 NULL superfamily_Histone-fold,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 44 16 26.67 55 0 0.00 H3F3B 3021 genome.wustl.edu 37 17 73774771 73774771 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73774771 73774771 C T SNP H3F3B ENST00000254810 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 48 7 12.50 54 0 0.00 H6PD 9563 genome.wustl.edu 37 1 9324266 9324266 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 9324266 9324266 G A SNP H6PD ENST00000377403 human ensembl 70_37 +1 known missense c.1714 p.E572K 0.996 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 75 33 30.56 83 0 0.00 H6PD 9563 genome.wustl.edu 37 1 9324432 9324432 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 9324432 9324432 C G SNP H6PD ENST00000377403 human ensembl 70_37 +1 known nonsense c.1880 p.S627* 0.114 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 24 8 25.00 25 0 0.00 HAAO 23498 genome.wustl.edu 37 2 42997641 42997641 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 42997641 42997641 G C SNP HAAO ENST00000294973 human ensembl 70_37 -1 known missense c.432 p.I144M 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 36 24 39.34 86 0 0.00 HAAO 23498 genome.wustl.edu 37 2 43010491 43010491 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 43010491 43010491 C T SNP HAAO ENST00000294973 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 32 14 30.43 46 0 0.00 HABP2 3026 genome.wustl.edu 37 10 115341797 115341797 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 115341797 115341797 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known missense c.1001 p.S334L 0.016 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 36 11 23.40 41 0 0.00 HABP2 3026 genome.wustl.edu 37 10 115341870 115341870 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 115341870 115341870 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known silent c.1074 p.L358 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 13 19 59.38 30 0 0.00 HABP2 3026 genome.wustl.edu 37 10 115343959 115343959 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 115343959 115343959 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known silent c.1290 p.Y430 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 41 28 40.00 107 0 0.00 HABP4 22927 genome.wustl.edu 37 9 99227724 99227724 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 99227724 99227724 C T SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known silent c.618 p.D206 0.028 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 34 17 33.33 57 0 0.00 HABP4 22927 genome.wustl.edu 37 9 99250501 99250501 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 99250501 99250501 G A SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known missense c.1130 p.G377E 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 32 5 13.51 51 0 0.00 HABP4 22927 genome.wustl.edu 37 9 99250527 99250527 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 99250527 99250527 G C SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known missense c.1156 p.E386Q 0.965 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 60 16 21.05 60 0 0.00 HACE1 57531 genome.wustl.edu 37 6 105232900 105232900 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 105232900 105232900 G A SNP HACE1 ENST00000262903 human ensembl 70_37 -1 known nonsense c.1369 p.Q457* 1.000 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 15 8 34.78 37 0 0.00 HACL1 26061 genome.wustl.edu 37 3 15633153 15633153 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 15633153 15633153 G C SNP HACL1 ENST00000321169 human ensembl 70_37 -1 known missense c.262 p.L88V 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 34 14 29.17 57 0 0.00 HACL1 26061 genome.wustl.edu 37 3 15633186 15633186 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 15633186 15633186 G A SNP HACL1 ENST00000321169 human ensembl 70_37 -1 known missense c.229 p.P77S 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 43 16 27.12 47 0 0.00 HADH 3033 genome.wustl.edu 37 4 108911144 108911144 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 108911144 108911144 C T SNP HADH ENST00000403312 human ensembl 70_37 +1 known missense c.56 p.S19L 0.997 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 13 8 38.10 21 0 0.00 HADH 3033 genome.wustl.edu 37 4 108948797 108948797 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 108948797 108948797 T C SNP HADH ENST00000510728 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HADH HGNC ENSG00000138796 16 10 38.46 26 0 0.00 HADH 3033 genome.wustl.edu 37 4 108953508 108953508 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 108953508 108953508 C T SNP HADH ENST00000403312 human ensembl 70_37 +1 known silent c.735 p.N245 0.000 superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 348 135 27.95 417 0 0.00 HAGHL 84264 genome.wustl.edu 37 16 784556 784556 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 784556 784556 C T SNP HAGHL ENST00000569604 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC ENSG00000103253 32 22 40.74 51 0 0.00 HAL 3034 genome.wustl.edu 37 12 96374348 96374348 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 96374348 96374348 G A SNP HAL ENST00000261208 human ensembl 70_37 -1 known missense c.1505 p.T502M 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 23 9 28.12 32 0 0.00 HAMP 57817 genome.wustl.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 19 35773520 35773522 CTC - DEL HAMP ENST00000222304 human ensembl 70_37 +1 known in_frame_del c.40_42 p.L17in_frame_del 0.987:0.987:0.959 pfam_Hepcidin pfam_Hepcidin - no_errors HAMP HGNC ENSG00000105697 18 3 14.29 18 0 0.00 HAND1 9421 genome.wustl.edu 37 5 153857266 153857266 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 153857266 153857266 C T SNP HAND1 ENST00000231121 human ensembl 70_37 -1 known silent c.303 p.K101 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors HAND1 HGNC ENSG00000113196 17 11 39.29 21 0 0.00 HAND1 9421 genome.wustl.edu 37 5 153857329 153857329 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 153857329 153857329 C T SNP HAND1 ENST00000231121 human ensembl 70_37 -1 known silent c.240 p.Q80 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors HAND1 HGNC ENSG00000113196 2 4 66.67 16 0 0.00 HAO1 54363 genome.wustl.edu 37 20 7886947 7886947 + Nonsense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 7886947 7886947 G C SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known nonsense c.575 p.S192* 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 9 14 60.87 23 0 0.00 HAO1 54363 genome.wustl.edu 37 20 7915153 7915153 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 7915153 7915153 G A SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known silent c.267 p.D89 0.946 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 20 16 44.44 26 0 0.00 HAO1 54363 genome.wustl.edu 37 20 7920973 7920973 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 7920973 7920973 C T SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known missense c.97 p.D33N 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 59 7 10.61 73 0 0.00 HAO2 51179 genome.wustl.edu 37 1 119923791 119923791 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 119923791 119923791 G C SNP HAO2 ENST00000361035 human ensembl 70_37 +1 known missense c.122 p.G41A 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 41 21 33.87 64 0 0.00 HAP1 9001 genome.wustl.edu 37 17 39881183 39881183 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 39881183 39881183 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.1786 p.E596K 0.699 NULL pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 245 105 29.91 355 0 0.00 HAP1 9001 genome.wustl.edu 37 17 39884506 39884506 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39884506 39884506 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.1147 p.E383K 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 68 23 25.27 112 1 0.88 HAP1 9001 genome.wustl.edu 37 17 39887937 39887937 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 39887937 39887937 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.955 p.E319K 0.778 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 17 7 29.17 25 0 0.00 HAP1 9001 genome.wustl.edu 37 17 39888584 39888584 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39888584 39888584 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known silent c.612 p.L204 0.962 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 33 20 37.74 48 0 0.00 HAP1 9001 genome.wustl.edu 37 17 39890702 39890702 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39890702 39890702 G A SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.185 p.S62L 0.001 NULL pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 12 7 36.84 19 0 0.00 HAPLN2 60484 genome.wustl.edu 37 1 156594401 156594401 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 156594401 156594401 G C SNP HAPLN2 ENST00000255039 human ensembl 70_37 +1 known missense c.565 p.E189Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN2 HGNC ENSG00000132702 21 6 22.22 14 0 0.00 HAPLN3 145864 genome.wustl.edu 37 15 89421436 89421436 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 89421436 89421436 C T SNP HAPLN3 ENST00000359595 human ensembl 70_37 -1 known missense c.848 p.R283K 0.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 56 25 30.86 56 0 0.00 HAPLN4 404037 genome.wustl.edu 37 19 19369456 19369456 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 19369456 19369456 G A SNP HAPLN4 ENST00000291481 human ensembl 70_37 -1 known silent c.693 p.G231 0.993 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 52 19 26.76 91 0 0.00 HAPLN4 404037 genome.wustl.edu 37 19 19369519 19369519 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 19369519 19369519 G A SNP HAPLN4 ENST00000291481 human ensembl 70_37 -1 known silent c.630 p.N210 0.975 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 14 11 44.00 45 0 0.00 HARBI1 283254 genome.wustl.edu 37 11 46637297 46637297 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 46637297 46637297 G C SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.491 p.S164C 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 49 18 26.87 84 0 0.00 HARBI1 283254 genome.wustl.edu 37 11 46637691 46637691 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637691 46637691 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 21 10 32.26 31 0 0.00 HARBI1 283254 genome.wustl.edu 37 11 46637694 46637694 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637694 46637694 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.94 p.D32N 1.000 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 19 10 34.48 31 0 0.00 HARBI1 283254 genome.wustl.edu 37 11 46637703 46637703 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637703 46637703 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.85 p.D29N 0.998 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 17 7 29.17 31 0 0.00 HARS 3035 genome.wustl.edu 37 5 140062703 140062703 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140062703 140062703 T G SNP HARS ENST00000504156 human ensembl 70_37 -1 known silent c.282 p.T94 0.798 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 31 8 20.51 56 0 0.00 HARS2 23438 genome.wustl.edu 37 5 140077661 140077661 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 140077661 140077661 G A SNP HARS2 ENST00000230771 human ensembl 70_37 +1 known missense c.1459 p.E487K 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 46 21 31.34 71 0 0.00 HAS1 3036 genome.wustl.edu 37 19 52217408 52217408 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 52217408 52217408 C A SNP HAS1 ENST00000594621 human ensembl 70_37 -1 putative missense c.497 p.C166F 0.091 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 31 4 11.43 53 0 0.00 HAS1 3036 genome.wustl.edu 37 19 52222782 52222782 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 52222782 52222782 G A SNP HAS1 ENST00000222115 human ensembl 70_37 -1 known missense c.379 p.R127W 0.927 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 27 4 12.90 30 0 0.00 HAS1 3036 genome.wustl.edu 37 19 52222789 52222789 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 52222789 52222789 C T SNP HAS1 ENST00000222115 human ensembl 70_37 -1 known silent c.372 p.P124 0.459 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 10 4 28.57 15 0 0.00 HAS2 3037 genome.wustl.edu 37 8 122626929 122626929 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 122626929 122626929 C T SNP HAS2 ENST00000303924 human ensembl 70_37 -1 known missense c.1079 p.R360Q 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 25 14 35.90 74 0 0.00 HAS3 3038 genome.wustl.edu 37 16 69147371 69147371 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 69147371 69147371 C G SNP HAS3 ENST00000306560 human ensembl 70_37 +1 known missense c.664 p.P222A 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 121 39 24.38 187 0 0.00 HAS3 3038 genome.wustl.edu 37 16 69152355 69152355 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69152355 69152355 G C SNP HAS3 ENST00000219322 human ensembl 70_37 +1 known missense c.836 p.R279T 0.780 NULL NULL - no_errors HAS3 HGNC ENSG00000103044 37 19 33.93 45 0 0.00 HAT1 8520 genome.wustl.edu 37 2 172823389 172823389 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 172823389 172823389 C T SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known nonsense c.742 p.Q248* 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 21 8 27.59 40 0 0.00 HAT1 8520 genome.wustl.edu 37 2 172844210 172844210 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 172844210 172844210 G A SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known missense c.1026 p.M342I 1.000 pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 33 31 48.44 37 0 0.00 HAT1 8520 genome.wustl.edu 37 2 172848125 172848125 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172848125 172848125 G A SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known missense c.1119 p.M373I 1.000 pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 31 10 24.39 20 0 0.00 HAUS1 115106 genome.wustl.edu 37 18 43704826 43704826 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 43704826 43704826 G T SNP HAUS1 ENST00000585518 human ensembl 70_37 +1 putative nonsense c.310 p.E104* 1.000 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 26 19 42.22 63 0 0.00 HAUS2 55142 genome.wustl.edu 37 15 42853526 42853526 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 42853526 42853526 G C SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.315 p.E105D 0.997 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 33 10 23.26 38 0 0.00 HAUS2 55142 genome.wustl.edu 37 15 42853584 42853584 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 42853584 42853584 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 25 5 16.13 39 0 0.00 HAUS2 55142 genome.wustl.edu 37 15 42858841 42858841 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 42858841 42858841 G C SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.535 p.E179Q 0.992 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 14 9 39.13 17 0 0.00 HAUS2 55142 genome.wustl.edu 37 15 42858847 42858847 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42858847 42858847 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.541 p.E181K 1.000 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 27 10 27.03 38 0 0.00 HAUS2 55142 genome.wustl.edu 37 15 42858892 42858892 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42858892 42858892 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.586 p.E196K 0.999 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 24 7 22.58 49 0 0.00 HAUS3 79441 genome.wustl.edu 37 4 2240337 2240337 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2240337 2240337 G T SNP HAUS3 ENST00000243706 human ensembl 70_37 -1 known missense c.1343 p.T448N 0.999 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 10 7 41.18 23 0 0.00 HAUS3 79441 genome.wustl.edu 37 4 2240753 2240753 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2240753 2240753 A C SNP HAUS3 ENST00000243706 human ensembl 70_37 -1 known missense c.927 p.N309K 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 11 3 21.43 24 0 0.00 HAUS4 54930 genome.wustl.edu 37 14 23416876 23416876 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23416876 23416876 G C SNP HAUS4 ENST00000206474 human ensembl 70_37 -1 known missense c.773 p.S258C 0.994 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 43 30 41.10 79 0 0.00 HAUS4 54930 genome.wustl.edu 37 14 23421630 23421630 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 23421630 23421630 C T SNP HAUS4 ENST00000206474 human ensembl 70_37 -1 known silent c.237 p.L79 0.985 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 28 5 15.15 39 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36103778 36103778 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 19 36103778 36103778 G A SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.82 p.E28K 0.999 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 26 14 35.00 49 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36104692 36104692 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36104692 36104692 G C SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.159 p.Q53H 1.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 86 36 29.51 149 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36104782 36104782 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36104782 36104782 G A SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known silent c.174 p.K58 1.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 139 36 20.57 198 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36106006 36106006 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 36106006 36106006 C T SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known silent c.282 p.L94 0.429 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 25 9 25.71 30 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36109886 36109886 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 36109886 36109886 C T SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.1114 p.R372W 0.030 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 25 4 13.79 51 0 0.00 HAUS5 23354 genome.wustl.edu 37 19 36110587 36110587 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 36110587 36110587 C T SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.1333 p.R445C 0.012 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 82 18 17.82 61 0 0.00 HAUS6 54801 genome.wustl.edu 37 9 19058250 19058250 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 19058250 19058250 C A SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.2515 p.A839S 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 63 7 10.00 77 0 0.00 HAUS6 54801 genome.wustl.edu 37 9 19060161 19060161 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 19060161 19060161 C G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.1690 p.E564Q 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 71 33 31.73 82 0 0.00 HAUS6 54801 genome.wustl.edu 37 9 19082873 19082873 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 19082873 19082873 G A SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known nonsense c.868 p.Q290* 0.988 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 22 8 26.67 42 0 0.00 HAUS6 54801 genome.wustl.edu 37 9 19086756 19086756 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19086756 19086756 A G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known silent c.675 p.S225 0.075 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 40 5 11.11 59 0 0.00 HAUS6 54801 genome.wustl.edu 37 9 19096727 19096727 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19096727 19096727 T G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.169 p.I57L 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 33 7 17.50 48 0 0.00 HAUS7 55559 genome.wustl.edu 37 X 152719932 152719932 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 152719932 152719932 G A SNP HAUS7 ENST00000370212 human ensembl 70_37 -1 known missense c.1172 p.S391F 0.004 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 48 6 11.11 40 0 0.00 HAVCR2 84868 genome.wustl.edu 37 5 156522377 156522377 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 156522377 156522377 C T SNP HAVCR2 ENST00000307851 human ensembl 70_37 -1 known missense c.616 p.G206R 0.306 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR2 HGNC ENSG00000135077 19 28 59.57 30 0 0.00 HAVCR2 84868 genome.wustl.edu 37 5 156522409 156522409 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 156522409 156522409 G C SNP HAVCR2 ENST00000307851 human ensembl 70_37 -1 known missense c.584 p.S195C 0.016 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR2 HGNC ENSG00000135077 85 31 26.72 118 0 0.00 HAX1 10456 genome.wustl.edu 37 1 154245822 154245822 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 154245822 154245822 C T SNP HAX1 ENST00000483970 human ensembl 70_37 +1 known missense c.64 p.P22S 1.000 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 91 47 34.06 179 0 0.00 HAX1 10456 genome.wustl.edu 37 1 154245995 154245995 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 154245995 154245995 C T SNP HAX1 ENST00000483970 human ensembl 70_37 +1 known silent c.237 p.F79 0.997 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 71 14 16.47 66 0 0.00 HBP1 26959 genome.wustl.edu 37 7 106826854 106826854 + Missense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 106826854 106826854 G T SNP HBP1 ENST00000222574 human ensembl 70_37 +1 known missense c.589 p.D197Y 1.000 NULL pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily - no_errors HBP1 HGNC ENSG00000105856 23 3 11.54 38 0 0.00 HBS1L 10767 genome.wustl.edu 37 6 135286429 135286429 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 135286429 135286429 C T SNP HBS1L ENST00000367837 human ensembl 70_37 -1 known splice_site c.2044-1 e18-1 1.000 - - - no_errors HBS1L HGNC ENSG00000112339 48 6 11.11 30 0 0.00 HBS1L 10767 genome.wustl.edu 37 6 135287550 135287550 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 135287550 135287550 C G SNP HBS1L ENST00000367837 human ensembl 70_37 -1 known missense c.1960 p.E654Q 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_DUF1916,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 52 16 23.53 62 0 0.00 HBS1L 10767 genome.wustl.edu 37 6 135358048 135358048 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 135358048 135358048 C T SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.1547 p.R516Q 0.604 NULL pfam_DUF1916 - no_errors HBS1L HGNC ENSG00000112339 20 16 44.44 58 0 0.00 HBS1L 10767 genome.wustl.edu 37 6 135358409 135358409 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135358409 135358409 C T SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.1186 p.D396N 1.000 NULL pfam_DUF1916 - no_errors HBS1L HGNC ENSG00000112339 14 14 50.00 13 0 0.00 HBS1L 10767 genome.wustl.edu 37 6 135358772 135358772 + Missense_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 135358772 135358772 C A SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.823 p.D275Y 0.030 NULL pfam_DUF1916 - no_errors HBS1L HGNC ENSG00000112339 34 4 10.53 58 0 0.00 HCAR2 338442 genome.wustl.edu 37 12 123187019 123187019 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 123187019 123187019 G C SNP HCAR2 ENST00000328880 human ensembl 70_37 -1 known missense c.812 p.S271W 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC ENSG00000182782 65 24 26.97 69 0 0.00 HCAR2 338442 genome.wustl.edu 37 12 123187570 123187570 + Nonsense_Mutation SNP A A T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 123187570 123187570 A T SNP HCAR2 ENST00000328880 human ensembl 70_37 -1 known nonsense c.261 p.Y87* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC ENSG00000182782 36 30 45.45 35 0 0.00 HCAR3 8843 genome.wustl.edu 37 12 123200213 123200213 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123200213 123200213 G C SNP HCAR3 ENST00000528880 human ensembl 70_37 -1 known missense c.1072 p.L358V 0.031 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR3 HGNC ENSG00000255398 44 42 48.84 150 0 0.00 HCAR3 8843 genome.wustl.edu 37 12 123200354 123200354 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 123200354 123200354 G A SNP HCAR3 ENST00000528880 human ensembl 70_37 -1 known missense c.931 p.R311C 0.015 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR3 HGNC ENSG00000255398 42 5 10.64 43 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153215957 153215957 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153215957 153215957 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.5741 p.S1914F 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 28 17 37.78 46 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153220407 153220407 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153220407 153220407 C A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.3443 p.R1148L 0.016 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 94 22 18.97 137 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153223487 153223487 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153223487 153223487 C T SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.2017 p.G673S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 69 13 15.85 68 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153224134 153224134 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 153224134 153224134 C T SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known silent c.1689 p.S563 0.933 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 88 13 12.87 123 1 0.81 HCFC1 3054 genome.wustl.edu 37 X 153225702 153225702 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153225702 153225702 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known silent c.1068 p.L356 0.986 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 23 83 78.30 120 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153225740 153225740 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153225740 153225740 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.1030 p.R344C 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 22 73 76.84 114 0 0.00 HCFC1 3054 genome.wustl.edu 37 X 153227013 153227014 + In_Frame_Ins INS - - TGT TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a X 153227013 153227014 - TGT INS HCFC1 ENST00000310441 human ensembl 70_37 -1 known in_frame_ins c.884_883 p.295in_frame_insN 0.997:1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 122 26 17.57 113 0 0.00 HCFC2 29915 genome.wustl.edu 37 12 104458473 104458473 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 104458473 104458473 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known silent c.135 p.I45 0.999 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 16 11 40.74 26 0 0.00 HCFC2 29915 genome.wustl.edu 37 12 104460085 104460085 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 104460085 104460085 G A SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known missense c.304 p.E102K 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 66 12 15.00 67 0 0.00 HCFC2 29915 genome.wustl.edu 37 12 104474574 104474574 + Nonsense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 104474574 104474574 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known nonsense c.733 p.R245* 1.000 pfam_Kelch_1 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 38 6 13.64 54 0 0.00 HCFC2 29915 genome.wustl.edu 37 12 104476567 104476567 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 104476567 104476567 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known silent c.951 p.G317 0.607 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 11 2 15.38 19 0 0.00 HCFC2 29915 genome.wustl.edu 37 12 104480731 104480731 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 104480731 104480731 G C SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known missense c.1170 p.L390F 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 40 18 31.03 58 0 0.00 HCG11 493812 genome.wustl.edu 37 6 26522340 26522340 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26522340 26522340 G A SNP HCG11 ENST00000411553 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HCG11 HGNC ENSG00000228223 3 5 62.50 14 0 0.00 HCK 3055 genome.wustl.edu 37 20 30659515 30659515 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 30659515 30659515 C G SNP HCK ENST00000375852 human ensembl 70_37 +1 known nonsense c.113 p.S38* 0.709 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 54 11 16.92 55 0 0.00 HCK 3055 genome.wustl.edu 37 20 30659523 30659523 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 30659523 30659523 G A SNP HCK ENST00000375852 human ensembl 70_37 +1 known missense c.121 p.E41K 0.028 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 71 28 28.28 65 0 0.00 HCK 3055 genome.wustl.edu 37 20 30681813 30681813 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 30681813 30681813 C T SNP HCK ENST00000375852 human ensembl 70_37 +1 known missense c.1240 p.R414W 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 38 17 30.91 52 0 0.00 HCLS1 3059 genome.wustl.edu 37 3 121350298 121350298 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121350298 121350298 G T SNP HCLS1 ENST00000473883 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors HCLS1 HGNC ENSG00000180353 11 5 31.25 13 0 0.00 HCLS1 3059 genome.wustl.edu 37 3 121376126 121376126 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 121376126 121376126 T G SNP HCLS1 ENST00000314583 human ensembl 70_37 -1 known missense c.158 p.N53T 1.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 52 10 16.13 53 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45262042 45262042 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45262042 45262042 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.2654 p.R885Q 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 7 12 60.00 20 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45262787 45262787 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 5 45262787 45262787 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1909 p.A637T 0.993 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 55 12 17.91 78 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45303719 45303719 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 45303719 45303719 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1600 p.D534N 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 27 20 42.55 38 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45303915 45303915 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45303915 45303915 T G SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1404 p.K468N 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 13 12 48.00 42 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45353336 45353336 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 45353336 45353336 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1243 p.E415K 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 85 13 13.27 30 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45645494 45645494 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45645494 45645494 C A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.642 p.K214N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 21 11 34.38 55 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45645500 45645500 + Silent SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 45645500 45645500 C A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known silent c.636 p.V212 0.997 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 34 46 57.50 42 0 0.00 HCN1 348980 genome.wustl.edu 37 5 45695897 45695897 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 45695897 45695897 G A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.299 p.S100F 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 21 9 30.00 23 0 0.00 HCN2 610 genome.wustl.edu 37 19 590519 590519 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 590519 590519 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known missense c.574 p.E192K 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 31 20 39.22 42 0 0.00 HCN2 610 genome.wustl.edu 37 19 608051 608051 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 608051 608051 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known missense c.1306 p.E436K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 45 56 55.45 100 0 0.00 HCN2 610 genome.wustl.edu 37 19 613851 613851 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 613851 613851 G C SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known splice_site c.1826-1 e7-1 1.000 - - - no_errors HCN2 HGNC ENSG00000099822 15 9 37.50 15 0 0.00 HCN2 610 genome.wustl.edu 37 19 615961 615961 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 615961 615961 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known silent c.2157 p.P719 0.732 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 19 15 44.12 20 0 0.00 HCN3 57657 genome.wustl.edu 37 1 155258282 155258282 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155258282 155258282 C T SNP HCN3 ENST00000496230 human ensembl 70_37 +1 known rna NULL NULL 0.227 - - - no_errors HCN3 HGNC ENSG00000143630 18 13 41.94 15 0 0.00 HCN3 57657 genome.wustl.edu 37 1 155258445 155258445 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155258445 155258445 A G SNP HCN3 ENST00000492035 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors HCN3 HGNC ENSG00000143630 20 4 16.67 33 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73614928 73614928 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 73614928 73614928 C T SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known missense c.3506 p.G1169E 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 9 5 33.33 11 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73615839 73615839 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 73615839 73615839 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2595 p.F865 0.993 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 26 6 18.75 53 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73616100 73616100 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 73616100 73616100 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2334 p.I778 0.997 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 14 16 53.33 20 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73616100 73616100 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 73616100 73616100 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2334 p.I778 0.997 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 17 22 56.41 48 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73622056 73622056 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 73622056 73622056 C T SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known missense c.1448 p.R483Q 0.990 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 76 16 17.39 70 0 0.00 HCN4 10021 genome.wustl.edu 37 15 73659973 73659973 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 73659973 73659973 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.639 p.F213 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC ENSG00000138622 28 24 45.28 31 0 0.00 HCRTR1 3061 genome.wustl.edu 37 1 32084964 32084964 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 32084964 32084964 C T SNP HCRTR1 ENST00000373706 human ensembl 70_37 +1 known silent c.171 p.F57 0.996 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 29 28 49.12 48 0 0.00 HCRTR1 3061 genome.wustl.edu 37 1 32090632 32090632 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 32090632 32090632 G A SNP HCRTR1 ENST00000373706 human ensembl 70_37 +1 known missense c.1000 p.E334K 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 48 20 29.41 46 0 0.00 HCRTR2 3062 genome.wustl.edu 37 6 55128539 55128539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 55128539 55128539 C A SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known missense c.681 p.F227L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 16 7 30.43 41 0 0.00 HCRTR2 3062 genome.wustl.edu 37 6 55142241 55142241 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 55142241 55142241 C G SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known missense c.826 p.R276G 0.799 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 36 11 23.40 45 0 0.00 HDAC10 83933 genome.wustl.edu 37 22 50686384 50686384 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 50686384 50686384 A G SNP HDAC10 ENST00000216271 human ensembl 70_37 -1 known silent c.1272 p.V424 0.235 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 38 15 28.30 50 0 0.00 HDAC11 79885 genome.wustl.edu 37 3 13545614 13545614 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 13545614 13545614 G A SNP HDAC11 ENST00000433119 human ensembl 70_37 +1 putative nonsense c.543 p.W181* 1.000 NULL pfam_His_deacetylse_dom - no_errors HDAC11 HGNC ENSG00000163517 17 22 56.41 22 0 0.00 HDAC2 3066 genome.wustl.edu 37 6 114274456 114274456 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 114274456 114274456 G A SNP HDAC2 ENST00000398283 human ensembl 70_37 -1 known silent c.906 p.G302 0.967 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 30 7 18.92 35 0 0.00 HDAC2 3066 genome.wustl.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 6 114292110 114292112 CTG - DEL HDAC2 ENST00000398283 human ensembl 70_37 -1 known in_frame_del c.245_243 p.S81in_frame_del 0.004:0.002:0.001 NULL pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 23 3 11.54 30 0 0.00 HDAC3 8841 genome.wustl.edu 37 5 141001051 141001051 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141001051 141001051 C T SNP HDAC3 ENST00000305264 human ensembl 70_37 -1 known missense c.1271 p.S424N 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 29 18 38.30 47 0 0.00 HDAC3 8841 genome.wustl.edu 37 5 141007487 141007487 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141007487 141007487 C T SNP HDAC3 ENST00000305264 human ensembl 70_37 -1 known missense c.803 p.C268Y 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 13 9 40.91 38 0 0.00 HDAC3 8841 genome.wustl.edu 37 5 141007738 141007738 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 141007738 141007738 G C SNP HDAC3 ENST00000305264 human ensembl 70_37 -1 known missense c.708 p.F236L 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 21 18 46.15 35 0 0.00 HDAC4 9759 genome.wustl.edu 37 2 240002874 240002874 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 240002874 240002874 G A SNP HDAC4 ENST00000345617 human ensembl 70_37 -1 known silent c.2652 p.P884 0.673 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 48 15 23.81 98 0 0.00 HDAC4 9759 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 70_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 79 9 10.23 73 0 0.00 HDAC4 9759 genome.wustl.edu 37 2 240048391 240048391 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 240048391 240048391 C T SNP HDAC4 ENST00000541256 human ensembl 70_37 -1 known splice_site c.1202-1 e10-1 1.000 - - - no_errors HDAC4 HGNC ENSG00000068024 10 24 70.59 86 0 0.00 HDAC4 9759 genome.wustl.edu 37 2 240098187 240098187 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 240098187 240098187 G A SNP HDAC4 ENST00000345617 human ensembl 70_37 -1 known missense c.412 p.R138C 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 31 19 38.00 69 0 0.00 HDAC5 10014 genome.wustl.edu 37 17 42160003 42160003 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42160003 42160003 T C SNP HDAC5 ENST00000225983 human ensembl 70_37 -1 known missense c.2560 p.K854E 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 21 13 38.24 61 0 0.00 HDAC5 10014 genome.wustl.edu 37 17 42171013 42171013 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42171013 42171013 A G SNP HDAC5 ENST00000225983 human ensembl 70_37 -1 known missense c.287 p.F96S 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 29 10 25.64 58 0 0.00 HDAC6 10013 genome.wustl.edu 37 X 48661072 48661072 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 48661072 48661072 C T SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known silent c.15 p.N5 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 20 23 53.49 46 0 0.00 HDAC6 10013 genome.wustl.edu 37 X 48663867 48663867 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48663867 48663867 C A SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.376 p.L126I 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 101 17 14.41 100 0 0.00 HDAC6 10013 genome.wustl.edu 37 X 48674575 48674575 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48674575 48674575 C G SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.1563 p.I521M 0.503 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 10 4 28.57 8 0 0.00 HDAC6 10013 genome.wustl.edu 37 X 48676649 48676649 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 48676649 48676649 C T SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.2059 p.R687C 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 52 32 38.10 89 0 0.00 HDAC6 10013 genome.wustl.edu 37 X 48681793 48681793 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 48681793 48681793 C T SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.3026 p.S1009L 0.011 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 30 29 49.15 98 0 0.00 HDAC7 51564 genome.wustl.edu 37 12 48189022 48189022 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 48189022 48189022 G A SNP HDAC7 ENST00000380610 human ensembl 70_37 -1 known missense c.1280 p.P427L 0.996 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 63 110 62.15 160 0 0.00 HDAC8 55869 genome.wustl.edu 37 X 71788729 71788729 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71788729 71788729 A C SNP HDAC8 ENST00000373573 human ensembl 70_37 -1 known missense c.170 p.V57G 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 14 6 30.00 44 0 0.00 HDAC8 55869 genome.wustl.edu 37 X 71792631 71792631 + RNA SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 71792631 71792631 C T SNP HDAC8 ENST00000478743 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HDAC8 HGNC ENSG00000147099 25 23 47.92 40 0 0.00 HDAC9 9734 genome.wustl.edu 37 7 18669010 18669010 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 18669010 18669010 A C SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known missense c.702 p.K234N 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 15 6 28.57 29 0 0.00 HDAC9 9734 genome.wustl.edu 37 7 18674292 18674292 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 18674292 18674292 C T SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known missense c.839 p.S280L 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 115 47 28.83 90 0 0.00 HDAC9 9734 genome.wustl.edu 37 7 18674294 18674295 + Frame_Shift_Ins INS - - CAAA TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 18674294 18674295 - CAAA INS HDAC9 ENST00000441542 human ensembl 70_37 +1 known frame_shift_ins c.841_842 p.N283fs 1.000:1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 119 44 26.99 92 0 0.00 HDAC9 9734 genome.wustl.edu 37 7 18868819 18868819 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 7 18868819 18868819 C T SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known silent c.2358 p.H786 0.743 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 18 19 51.35 43 0 0.00 HDC 3067 genome.wustl.edu 37 15 50535348 50535348 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 50535348 50535348 G A SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.1234 p.R412C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 13 6 31.58 35 0 0.00 HDC 3067 genome.wustl.edu 37 15 50546436 50546436 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 50546436 50546436 G C SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.611 p.S204C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 47 15 23.08 27 0 0.00 HDC 3067 genome.wustl.edu 37 15 50546436 50546436 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 50546436 50546436 G C SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.611 p.S204C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 56 12 17.14 66 0 0.00 HDC 3067 genome.wustl.edu 37 15 50550607 50550607 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 50550607 50550607 G A SNP HDC ENST00000267845 human ensembl 70_37 -1 known silent c.312 p.F104 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 30 15 33.33 35 0 0.00 HDDC2 51020 genome.wustl.edu 37 6 125621802 125621803 + Frame_Shift_Del DEL CT CT - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 125621802 125621803 CT - DEL HDDC2 ENST00000398153 human ensembl 70_37 -1 known frame_shift_del c.88_87 p.R29fs 1.000:0.998 NULL pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 24 8 25.00 31 0 0.00 HDGF 3068 genome.wustl.edu 37 1 156712542 156712542 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156712542 156712542 C T SNP HDGF ENST00000465180 human ensembl 70_37 -1 known rna NULL NULL 0.184 - - - no_errors HDGF HGNC ENSG00000143321 44 18 29.03 66 0 0.00 HDGF 3068 genome.wustl.edu 37 1 156712760 156712760 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 156712760 156712760 G A SNP HDGF ENST00000465180 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HDGF HGNC ENSG00000143321 14 9 37.50 42 0 0.00 HDGF 3068 genome.wustl.edu 37 1 156721268 156721268 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 156721268 156721268 G T SNP HDGF ENST00000469145 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HDGF HGNC ENSG00000143321 19 14 42.42 35 0 0.00 HDGFL1 154150 genome.wustl.edu 37 6 22570207 22570207 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 22570207 22570207 G T SNP HDGFL1 ENST00000230012 human ensembl 70_37 +1 known missense c.403 p.D135Y 0.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors HDGFL1 HGNC ENSG00000112273 2 4 66.67 12 0 0.00 HDHD1 8226 genome.wustl.edu 37 X 6975800 6975800 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 6975800 6975800 G A SNP HDHD1 ENST00000540122 human ensembl 70_37 -1 known missense c.575 p.S192L 0.001 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom - no_errors HDHD1 HGNC ENSG00000130021 35 18 33.96 60 0 0.00 HDHD1 8226 genome.wustl.edu 37 X 6995411 6995411 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 6995411 6995411 G A SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known silent c.429 p.F143 0.623 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 56 23 29.11 84 0 0.00 HDHD1 8226 genome.wustl.edu 37 X 6995415 6995415 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 6995415 6995415 G A SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known missense c.425 p.S142L 0.413 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 82 17 17.17 86 0 0.00 HDHD1 8226 genome.wustl.edu 37 X 7023797 7023797 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 X 7023797 7023797 C G SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known silent c.213 p.L71 0.011 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 21 25 54.35 57 0 0.00 HDHD1 8226 genome.wustl.edu 37 X 7023850 7023850 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 7023850 7023850 G C SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known missense c.160 p.Q54E 0.992 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 29 18 38.30 43 0 0.00 HDLBP 3069 genome.wustl.edu 37 2 242168950 242168950 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168950 242168950 G A SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.133 - - - no_errors HDLBP HGNC ENSG00000115677 11 9 45.00 53 0 0.00 HDLBP 3069 genome.wustl.edu 37 2 242168952 242168952 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168952 242168952 G A SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors HDLBP HGNC ENSG00000115677 9 9 47.37 55 0 0.00 HDLBP 3069 genome.wustl.edu 37 2 242168993 242168993 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 242168993 242168993 G C SNP HDLBP ENST00000484412 human ensembl 70_37 -1 putative rna NULL NULL 0.064 - - - no_errors HDLBP HGNC ENSG00000115677 9 11 55.00 56 0 0.00 HDLBP 3069 genome.wustl.edu 37 2 242173318 242173318 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 242173318 242173318 C T SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.3205 p.G1069R 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 80 22 21.57 126 1 0.79 HDLBP 3069 genome.wustl.edu 37 2 242174571 242174571 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 242174571 242174571 G A SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.3109 p.R1037C 0.994 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 17 18 50.00 37 0 0.00 HDLBP 3069 genome.wustl.edu 37 2 242186507 242186507 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 242186507 242186507 C G SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.1782 p.K594N 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 64 17 20.99 77 0 0.00 HDX 139324 genome.wustl.edu 37 X 83588783 83588783 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 83588783 83588783 G C SNP HDX ENST00000297977 human ensembl 70_37 -1 known missense c.1808 p.S603C 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 70 46 39.66 74 0 0.00 HDX 139324 genome.wustl.edu 37 X 83724332 83724332 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 83724332 83724332 T C SNP HDX ENST00000297977 human ensembl 70_37 -1 known silent c.399 p.A133 0.946 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 71 10 12.35 175 0 0.00 HDX 139324 genome.wustl.edu 37 X 83724357 83724360 + Frame_Shift_Del DEL TGTT TGTT - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 83724357 83724360 TGTT - DEL HDX ENST00000297977 human ensembl 70_37 -1 known frame_shift_del c.374_371 p.K124fs 0.372:0.362:0.325:0.948 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 70 46 39.66 119 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236716983 236716983 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 236716983 236716983 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known silent c.6135 p.L2045 0.998 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 37 18 32.73 77 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236717916 236717916 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 236717916 236717916 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.6060 p.M2020I 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 118 18 13.24 69 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236724550 236724550 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 236724550 236724550 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.4621 p.E1541K 0.644 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 38 13 25.49 56 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236734921 236734921 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 236734921 236734921 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.3773 p.C1258Y 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 15 5 25.00 28 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236746396 236746396 + Missense_Mutation SNP A A T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 236746396 236746396 A T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.2342 p.V781E 0.005 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 25 14 35.90 32 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236748383 236748383 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 236748383 236748383 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.2183 p.R728T 0.989 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 41 17 29.31 52 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236750721 236750722 + Frame_Shift_Ins INS - - T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 236750721 236750722 - T INS HEATR1 ENST00000366582 human ensembl 70_37 -1 known frame_shift_ins c.1696_1695 p.L565fs 1.000:0.993 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 25 15 37.50 45 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236750724 236750724 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 236750724 236750724 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.1693 p.E565K 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 22 18 45.00 44 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236750791 236750791 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 236750791 236750791 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known splice_site c.1627-1 e13-1 1.000 - - - no_errors HEATR1 HGNC ENSG00000119285 28 11 28.21 38 0 0.00 HEATR1 55127 genome.wustl.edu 37 1 236755358 236755358 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 236755358 236755358 C A SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.1357 p.D453Y 0.108 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 17 19 52.78 48 0 0.00 HEATR3 55027 genome.wustl.edu 37 16 50100092 50100092 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50100092 50100092 C T SNP HEATR3 ENST00000299192 human ensembl 70_37 +1 known missense c.50 p.T17M 0.053 NULL superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 13 3 18.75 21 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73945450 73945450 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73945450 73945450 C A SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2942 p.R981L 0.882 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 46 19 29.23 99 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73945456 73945456 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 73945456 73945456 T C SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2936 p.D979G 0.997 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 61 17 21.79 60 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73945457 73945457 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73945457 73945457 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2935 p.D979N 0.996 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 50 21 29.58 103 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73963365 73963365 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 73963365 73963365 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2565 p.M855I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 28 31 52.54 52 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73969681 73969681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 73969681 73969681 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 25 17 40.48 57 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73974859 73974859 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73974859 73974859 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known silent c.1860 p.L620 0.999 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 57 39 40.62 79 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73987662 73987662 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73987662 73987662 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known silent c.963 p.T321 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 75 56 42.75 123 0 0.00 HEATR4 399671 genome.wustl.edu 37 14 73989258 73989258 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 73989258 73989258 C G SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.599 p.R200T 0.989 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 25 31 55.36 51 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31774366 31774366 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 31774366 31774366 C A SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known nonsense c.4966 p.E1656* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 19 4 17.39 25 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31782183 31782183 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 31782183 31782183 G A SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.4414 p.P1472S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 25 4 13.79 52 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31806814 31806814 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 31806814 31806814 G C SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.3217 p.L1073V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 38 8 17.39 39 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31858053 31858053 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 31858053 31858053 G C SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.913 p.Q305E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 51 10 16.39 70 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31863314 31863314 + Nonsense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 31863314 31863314 G T SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known nonsense c.698 p.S233* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 36 4 10.00 28 0 0.00 HEATR5A 25938 genome.wustl.edu 37 14 31863394 31863394 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 31863394 31863394 C G SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.618 p.W206C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 17 15 46.88 29 0 0.00 HEATR5B 54497 genome.wustl.edu 37 2 37215840 37215840 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 37215840 37215840 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.5860 p.E1954K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 57 17 22.97 63 0 0.00 HEATR5B 54497 genome.wustl.edu 37 2 37247929 37247929 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 37247929 37247929 C A SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.3904 p.A1302S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 33 4 10.81 37 0 0.00 HEATR5B 54497 genome.wustl.edu 37 2 37295890 37295890 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 37295890 37295890 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.1111 p.E371K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 102 43 29.66 116 0 0.00 HEATR5B 54497 genome.wustl.edu 37 2 37306395 37306395 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 37306395 37306395 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.206 p.R69Q 0.992 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 45 10 18.18 70 0 0.00 HEATR6 63897 genome.wustl.edu 37 17 58121197 58121197 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 58121197 58121197 C T SNP HEATR6 ENST00000184956 human ensembl 70_37 -1 known missense c.3273 p.M1091I 0.564 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 44 29 39.73 70 0 0.00 HEATR6 63897 genome.wustl.edu 37 17 58144895 58144895 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 58144895 58144895 C G SNP HEATR6 ENST00000184956 human ensembl 70_37 -1 known missense c.1138 p.D380H 0.895 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 20 5 20.00 36 0 0.00 HEATR6 63897 genome.wustl.edu 37 17 58156276 58156276 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 58156276 58156276 C G SNP HEATR6 ENST00000585712 human ensembl 70_37 -1 known rna NULL NULL 0.649 - - - no_errors HEATR6 HGNC ENSG00000068097 7 9 56.25 17 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234698660 234698660 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 234698660 234698660 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.571 p.V191M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 25 12 32.43 41 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234702399 234702399 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 234702399 234702399 G C SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.751 p.E251Q 0.988 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 19 42 68.85 105 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234702468 234702468 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 234702468 234702468 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.820 p.E274K 0.949 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 33 34 50.75 86 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234704681 234704681 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 234704681 234704681 C T SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel silent c.1128 p.F376 0.985 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 26 17 39.53 32 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234731551 234731551 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 234731551 234731551 C G SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel silent c.3891 p.L1297 0.006 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 9 18 66.67 39 0 0.00 MROH2A 339766 genome.wustl.edu 37 2 234740827 234740827 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 234740827 234740827 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.4745 p.R1582Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC ENSG00000185038 45 11 19.30 23 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 40998766 40998766 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 40998766 40998766 G A SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known silent c.4599 p.L1533 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 33 18 35.29 48 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41007551 41007551 + Nonsense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 41007551 41007551 G C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known nonsense c.3614 p.S1205* 0.980 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 45 26 36.62 45 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41012810 41012810 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 41012810 41012810 C T SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.3010 p.E1004K 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 18 16 47.06 61 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41018849 41018849 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 41018849 41018849 G A SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known silent c.2617 p.L873 0.109 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 27 21 43.75 35 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41038900 41038900 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 41038900 41038900 G C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.2152 p.L718V 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 99 33 25.00 72 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41038910 41038910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 41038910 41038910 C G SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.2142 p.K714N 0.017 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 33 27 45.00 63 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41039655 41039655 + Silent SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 41039655 41039655 T C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known silent c.1956 p.G652 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 38 7 15.22 40 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41045946 41045946 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 41045946 41045946 C G SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.1738 p.E580Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 118 33 21.85 80 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41048537 41048537 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 41048537 41048537 A C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.1573 p.L525V 0.083 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 20 7 25.93 34 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41058167 41058167 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 41058167 41058167 G C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.754 p.Q252E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 25 7 21.88 29 0 0.00 MROH2B 133558 genome.wustl.edu 37 5 41069835 41069835 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 41069835 41069835 G T SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.48 p.N16K 1.000 NULL superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 7 11 61.11 16 0 0.00 MROH7 374977 genome.wustl.edu 37 1 55118805 55118805 + Nonsense_Mutation SNP C C G TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 1 55118805 55118805 C G SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known nonsense c.206 p.S69* 0.013 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 20 3 13.04 30 0 0.00 MROH7 374977 genome.wustl.edu 37 1 55118859 55118859 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 55118859 55118859 G C SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known missense c.260 p.R87T 0.000 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 30 8 21.05 47 0 0.00 MROH7 374977 genome.wustl.edu 37 1 55145575 55145575 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 55145575 55145575 C T SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known silent c.2238 p.I746 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 16 22 57.89 33 0 0.00 MROH7 374977 genome.wustl.edu 37 1 55163338 55163338 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 55163338 55163338 G T SNP HEATR8 ENST00000339553 human ensembl 70_37 +1 known nonsense c.2977 p.E993* 0.003 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 36 4 10.00 34 0 0.00 MROH7 374977 genome.wustl.edu 37 1 55175727 55175727 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 55175727 55175727 G A SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known missense c.3839 p.G1280E 0.012 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 30 8 21.05 32 0 0.00 HECA 51696 genome.wustl.edu 37 6 139487874 139487874 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 139487874 139487874 G A SNP HECA ENST00000367658 human ensembl 70_37 +1 known missense c.725 p.R242Q 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 10 3 23.08 13 0 0.00 HECA 51696 genome.wustl.edu 37 6 139487903 139487903 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 139487903 139487903 G C SNP HECA ENST00000367658 human ensembl 70_37 +1 known missense c.754 p.E252Q 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 10 10 50.00 14 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31578721 31578721 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 31578721 31578721 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.6362 p.G2121E 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 54 11 16.92 69 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31597175 31597175 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 31597175 31597175 C A SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.4797 p.L1599F 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 41 28 40.58 96 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31598191 31598191 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 31598191 31598191 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known silent c.4386 p.R1462 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 13 8 38.10 25 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31611083 31611083 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 31611083 31611083 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.2854 p.E952K 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 11 5 31.25 15 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31641296 31641296 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 31641296 31641296 G C SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.1189 p.Q397E 1.000 superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 38 25 39.68 40 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31644182 31644182 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 31644182 31644182 G C SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.538 p.Q180E 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 15 9 37.50 43 0 0.00 HECTD1 25831 genome.wustl.edu 37 14 31644208 31644208 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 31644208 31644208 G A SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.512 p.S171L 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 17 9 34.62 45 0 0.00 HECTD2 143279 genome.wustl.edu 37 10 93249462 93249462 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 93249462 93249462 G C SNP HECTD2 ENST00000498446 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HECTD2 HGNC ENSG00000165338 4 33 89.19 39 0 0.00 HECTD2 143279 genome.wustl.edu 37 10 93261075 93261075 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 93261075 93261075 G A SNP HECTD2 ENST00000446394 human ensembl 70_37 +1 known missense c.2206 p.E736K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 38 22 36.67 77 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45468859 45468859 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45468859 45468859 G C SNP HECTD3 ENST00000486132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HECTD3 HGNC ENSG00000126107 13 11 45.83 19 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45469601 45469601 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469601 45469601 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2355 p.R785 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 27 9 25.00 36 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45469790 45469790 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 45469790 45469790 G A SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2289 p.F763 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 5 3 37.50 13 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45469798 45469798 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469798 45469798 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.2281 p.E761Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 18 4 17.39 13 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45469950 45469950 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469950 45469950 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.2242 p.E748Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 47 15 24.19 44 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45470392 45470392 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45470392 45470392 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2022 p.L674 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 39 13 25.00 59 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45470457 45470457 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45470457 45470457 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.1957 p.E653Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 47 13 21.67 66 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45471529 45471529 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 45471529 45471529 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known nonsense c.1872 p.W624* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 18 14 43.75 47 0 0.00 HECTD3 79654 genome.wustl.edu 37 1 45474374 45474374 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45474374 45474374 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known splice_site c.1073-1 e8-1 1.000 - - - no_errors HECTD3 HGNC ENSG00000126107 31 11 26.19 40 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112602065 112602065 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 112602065 112602065 G A SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.12033 p.T4011 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 27 28 50.91 55 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112605159 112605159 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 112605159 112605159 C A SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.11980 p.D3994Y 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 52 18 25.71 90 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112607485 112607485 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112607485 112607485 C G SNP HECTD4 ENST00000547085 human ensembl 70_37 -1 putative missense c.159 p.L53F 0.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 12 6 33.33 17 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112608139 112608139 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 112608139 112608139 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.11534 p.G3845E 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 20 6 23.08 31 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112617099 112617099 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 112617099 112617099 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.10574 p.R3525K 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 95 32 25.20 117 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112622247 112622247 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 112622247 112622247 G C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.10007 p.S3336C 0.972 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 36 18 33.33 64 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112670844 112670844 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 112670844 112670844 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.5445 p.M1815I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 41 16 28.07 31 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112670864 112670864 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 112670864 112670864 G T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.5425 p.L1809I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 39 13 25.00 27 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112681469 112681469 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 112681469 112681469 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.4230 p.L1410 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 40 28 41.18 49 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112686184 112686184 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 112686184 112686184 T C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.3567 p.L1189 0.836 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 11 9 45.00 21 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112712683 112712683 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 12 112712683 112712683 G A SNP HECTD4 ENST00000550722 human ensembl 70_37 -1 novel missense c.1337 p.S446L 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 33 13 27.66 35 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112720970 112720970 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 112720970 112720970 G T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.1040 p.T347K 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 36 4 10.00 39 0 0.00 HECTD4 283450 genome.wustl.edu 37 12 112752316 112752316 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112752316 112752316 G C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.298 p.L100V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 20 18 47.37 34 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43351605 43351605 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 43351605 43351605 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.271 p.G91R 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 38 11 22.45 47 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43447187 43447187 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 43447187 43447187 G C SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.658 p.G220R 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 23 11 32.35 23 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484020 43484020 + Nonsense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 43484020 43484020 G T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known nonsense c.1249 p.E417* 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 34 8 19.05 27 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484129 43484129 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 43484129 43484129 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1358 p.P453L 0.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 20 4 16.67 18 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484164 43484164 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 43484164 43484164 G T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1393 p.G465C 0.053 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 34 4 10.53 31 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484309 43484309 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 43484309 43484309 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1538 p.S513F 0.007 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 23 15 39.47 29 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484406 43484406 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 43484406 43484406 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known silent c.1635 p.V545 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 15 10 40.00 37 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43484575 43484575 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 43484575 43484575 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1804 p.E602K 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 15 12 44.44 20 0 0.00 HECW1 23072 genome.wustl.edu 37 7 43508528 43508528 + Nonsense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 43508528 43508528 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known nonsense c.2923 p.R975* 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 18 19 51.35 29 0 0.00 HECW2 57520 genome.wustl.edu 37 2 197085612 197085612 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 197085612 197085612 C T SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known silent c.4200 p.K1400 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 197 32 13.97 260 0 0.00 HECW2 57520 genome.wustl.edu 37 2 197183690 197183690 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 197183690 197183690 C G SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known missense c.1924 p.D642H 0.935 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 40 7 14.89 33 0 0.00 HECW2 57520 genome.wustl.edu 37 2 197208446 197208446 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 197208446 197208446 C T SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known missense c.335 p.G112D 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 235 86 26.79 335 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124731854 124731854 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 124731854 124731854 G A SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.2569 p.P857S 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 46 34 42.50 58 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124731882 124731882 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 124731882 124731882 C T SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known silent c.2541 p.L847 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 53 35 39.77 75 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124732322 124732322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 124732322 124732322 G C SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.2101 p.L701V 0.011 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 58 10 14.71 61 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124732410 124732410 + Silent SNP A A G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 3 124732410 124732410 A G SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known silent c.2013 p.S671 0.018 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 16 5 22.73 24 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124739958 124739958 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 124739958 124739958 C T SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known silent c.930 p.E310 0.001 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 33 8 19.51 28 0 0.00 HEG1 57493 genome.wustl.edu 37 3 124748248 124748248 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 124748248 124748248 G A SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.401 p.S134L 0.003 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 42 18 30.00 64 0 0.00 HELB 92797 genome.wustl.edu 37 12 66696510 66696510 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 66696510 66696510 G A SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.127 p.D43N 0.981 NULL NULL - no_errors HELB HGNC ENSG00000127311 38 16 29.63 68 0 0.00 HELB 92797 genome.wustl.edu 37 12 66717770 66717770 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66717770 66717770 C G SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.2305 p.Q769E 1.000 NULL NULL - no_errors HELB HGNC ENSG00000127311 33 15 31.25 74 0 0.00 HELB 92797 genome.wustl.edu 37 12 66731855 66731855 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66731855 66731855 C G SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.3237 p.F1079L 0.985 NULL NULL - no_errors HELB HGNC ENSG00000127311 26 12 31.58 32 0 0.00 HELLS 3070 genome.wustl.edu 37 10 96356854 96356854 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 96356854 96356854 G A SNP HELLS ENST00000371332 human ensembl 70_37 +1 known missense c.2546 p.R849Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 42 10 19.23 63 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84337943 84337943 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 84337943 84337943 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.3139 p.V1047I 0.824 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 67 19 22.09 109 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84350794 84350794 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84350794 84350794 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.2401 p.E801K 0.319 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 51 21 29.17 75 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84358067 84358067 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 84358067 84358067 G A SNP HELQ ENST00000295488 human ensembl 70_37 -1 known silent c.1992 p.L664 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 23 11 32.35 40 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84361036 84361036 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 84361036 84361036 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.1788 p.M596I 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 28 4 12.50 44 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84368045 84368045 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 84368045 84368045 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known silent c.1335 p.V445 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 130 28 17.72 186 0 0.00 HELQ 113510 genome.wustl.edu 37 4 84376882 84376882 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 84376882 84376882 C T SNP HELQ ENST00000440639 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors HELQ HGNC ENSG00000163312 6 14 70.00 12 0 0.00 HELT 391723 genome.wustl.edu 37 4 185940974 185940975 + Frame_Shift_Ins INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 185940974 185940975 - T INS HELT ENST00000338875 human ensembl 70_37 +1 known frame_shift_ins c.461_462 p.P156fs 1.000:0.997 smart_HLH_dom pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom - no_errors HELT HGNC ENSG00000187821 28 17 37.78 69 0 0.00 HELT 391723 genome.wustl.edu 37 4 185940979 185940979 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 185940979 185940979 C T SNP HELT ENST00000338875 human ensembl 70_37 +1 known missense c.466 p.P156S 1.000 smart_HLH_dom pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom - no_errors HELT HGNC ENSG00000187821 24 20 45.45 60 0 0.00 HELZ 9931 genome.wustl.edu 37 17 65132168 65132168 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 65132168 65132168 G C SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.3100 p.L1034V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 55 10 15.38 41 0 0.00 HELZ 9931 genome.wustl.edu 37 17 65132235 65132235 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 65132235 65132235 C G SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.3033 p.K1011N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 38 24 38.71 66 0 0.00 HELZ 9931 genome.wustl.edu 37 17 65134104 65134104 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 65134104 65134104 C G SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.2896 p.E966Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 210 48 18.46 295 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62191301 62191301 + Missense_Mutation SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 62191301 62191301 T C SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.7805 p.Q2602R 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 43 16 27.12 48 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62192044 62192044 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62192044 62192044 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.7288 p.G2430S 0.649 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 44 18 29.03 61 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62192477 62192477 + Silent SNP A A C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 20 62192477 62192477 A C SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.7104 p.P2368 0.508 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 26 11 29.73 45 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62192594 62192594 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 62192594 62192594 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.6987 p.F2329 0.079 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 101 54 34.84 89 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62193337 62193337 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 62193337 62193337 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.6530 p.G2177D 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 43 12 21.82 21 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62195033 62195033 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62195033 62195033 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.5142 p.H1714 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 53 19 26.39 96 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62195045 62195045 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 62195045 62195045 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.5130 p.F1710 0.471 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 106 37 25.87 87 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62195546 62195546 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 62195546 62195546 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.4629 p.S1543 0.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 28 22 44.00 26 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62196064 62196064 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 62196064 62196064 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.4111 p.H1371Y 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 67 30 30.93 33 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62196447 62196447 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 62196447 62196447 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.3728 p.R1243Q 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 5 6 54.55 10 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62196884 62196884 + Silent SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 62196884 62196884 A G SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.3291 p.T1097 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 35 5 12.50 21 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62197125 62197125 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62197125 62197125 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.3050 p.A1017V 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 73 18 19.78 40 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62198468 62198468 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 62198468 62198468 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.2243 p.A748V 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 120 33 21.57 200 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62198726 62198726 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 62198726 62198726 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.1985 p.S662F 0.997 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 117 19 13.97 81 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62198794 62198794 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 62198794 62198794 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.1917 p.A639 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 16 38 70.37 60 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62199862 62199862 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62199862 62199862 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.1579 p.A527T 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 30 38 55.88 39 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62201861 62201861 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 62201861 62201861 G C SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.566 p.S189C 0.260 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 40 24 37.50 67 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62202569 62202569 + RNA SNP A A C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62202569 62202569 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors HELZ2 HGNC ENSG00000130589 58 7 10.77 37 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62202569 62202569 + RNA SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 62202569 62202569 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors HELZ2 HGNC ENSG00000130589 34 7 17.07 22 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62202620 62202620 + RNA SNP A A C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 62202620 62202620 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.503 - - - no_errors HELZ2 HGNC ENSG00000130589 66 10 13.16 39 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62202785 62202785 + RNA SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 62202785 62202785 A G SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.741 - - - no_errors HELZ2 HGNC ENSG00000130589 96 15 13.51 34 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62203254 62203254 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 62203254 62203254 C G SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HELZ2 HGNC ENSG00000130589 27 15 35.71 32 0 0.00 HELZ2 85441 genome.wustl.edu 37 20 62203573 62203573 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 62203573 62203573 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.166 p.E56K 0.994 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC ENSG00000130589 53 45 45.92 93 0 0.00 HEMK1 51409 genome.wustl.edu 37 3 50614558 50614558 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 50614558 50614558 C G SNP HEMK1 ENST00000232854 human ensembl 70_37 +1 known missense c.490 p.L164V 1.000 pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 21 14 40.00 43 0 0.00 HEPACAM 220296 genome.wustl.edu 37 11 124791168 124791168 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 124791168 124791168 G A SNP HEPACAM ENST00000298251 human ensembl 70_37 -1 known missense c.1117 p.R373W 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM HGNC ENSG00000165478 13 37 74.00 15 0 0.00 HEPACAM 220296 genome.wustl.edu 37 11 124793851 124793851 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 124793851 124793851 G A SNP HEPACAM ENST00000298251 human ensembl 70_37 -1 known silent c.483 p.S161 0.857 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM HGNC ENSG00000165478 9 7 43.75 34 0 0.00 HEPACAM2 253012 genome.wustl.edu 37 7 92825163 92825163 + Frame_Shift_Del DEL G G - TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 92825163 92825163 G - DEL HEPACAM2 ENST00000394468 human ensembl 70_37 -1 known frame_shift_del c.1253 p.P418fs 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC ENSG00000188175 13 2 13.33 56 0 0.00 HEPACAM2 253012 genome.wustl.edu 37 7 92848495 92848495 + Nonsense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 92848495 92848495 C A SNP HEPACAM2 ENST00000394468 human ensembl 70_37 -1 known nonsense c.349 p.E117* 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC ENSG00000188175 67 29 30.21 78 0 0.00 HEPH 9843 genome.wustl.edu 37 X 65486299 65486299 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 65486299 65486299 A T SNP HEPH ENST00000519389 human ensembl 70_37 +1 known missense c.3424 p.I1142F 0.005 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 32 16 33.33 69 0 0.00 HEPH 9843 genome.wustl.edu 37 X 65486316 65486316 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 65486316 65486316 G A SNP HEPH ENST00000519389 human ensembl 70_37 +1 known silent c.3441 p.V1147 0.107 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 27 17 38.64 53 0 0.00 HEPH 9843 genome.wustl.edu 37 X 65486376 65486376 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 65486376 65486376 T C SNP HEPH ENST00000519389 human ensembl 70_37 +1 known silent c.3501 p.V1167 0.017 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 60 10 14.29 81 0 0.00 HEPH 9843 genome.wustl.edu 37 X 65486413 65486414 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 65486413 65486414 - T INS HEPH ENST00000519389 human ensembl 70_37 +1 known frame_shift_ins c.3538_3539 p.G1181fs 0.405:0.385 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 57 30 34.48 68 0 0.00 HEPHL1 341208 genome.wustl.edu 37 11 93796772 93796772 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93796772 93796772 T A SNP HEPHL1 ENST00000315765 human ensembl 70_37 +1 known missense c.514 p.Y172N 0.998 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 56 12 17.65 68 0 0.00 HEPN1 641654 genome.wustl.edu 37 11 124789809 124789809 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 124789809 124789809 C T SNP HEPN1 ENST00000408930 human ensembl 70_37 +1 known missense c.163 p.H55Y 0.019 NULL NULL - no_errors HEPN1 HGNC ENSG00000221932 26 18 40.91 46 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63916527 63916527 + Splice_Site SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 63916527 63916527 C G SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known splice_site c.13276-1 e71-1 1.000 - - - no_errors HERC1 HGNC ENSG00000103657 40 18 31.03 47 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63918234 63918234 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 63918234 63918234 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.13225 p.D4409N 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 27 10 27.03 32 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63921011 63921011 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 15 63921011 63921011 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.12970 p.G4324S 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 18 15 45.45 59 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63932470 63932470 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 63932470 63932470 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.11782 p.E3928K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 46 11 18.97 57 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63932560 63932560 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63932560 63932560 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known nonsense c.11692 p.Q3898* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 15 12 44.44 25 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63946435 63946435 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63946435 63946435 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known silent c.10173 p.L3391 0.953 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 21 12 36.36 24 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63964722 63964722 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63964722 63964722 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.8018 p.P2673L 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 20 12 37.50 42 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63970083 63970083 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63970083 63970083 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.7031 p.S2344F 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 42 24 36.36 50 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63970165 63970165 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 63970165 63970165 G C SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.6949 p.L2317V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 47 40 45.98 62 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63972276 63972276 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 15 63972276 63972276 C A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.6549 p.K2183N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 13 3 18.75 23 0 0.00 HERC1 8925 genome.wustl.edu 37 15 63972950 63972952 + In_Frame_Del DEL CCT CCT - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 63972950 63972952 CCT - DEL HERC1 ENST00000443617 human ensembl 70_37 -1 known in_frame_del c.6251_6249 p.RG2083in_frame_delS 1.000:1.000:0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 74 23 23.71 44 0 0.00 HERC1 8925 genome.wustl.edu 37 15 64005673 64005673 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 64005673 64005673 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.4342 p.R1448W 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 38 15 28.30 45 0 0.00 HERC1 8925 genome.wustl.edu 37 15 64015507 64015507 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 64015507 64015507 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.3616 p.E1206K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 14 7 33.33 32 0 0.00 HERC1 8925 genome.wustl.edu 37 15 64039150 64039150 + Silent SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 64039150 64039150 C A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known silent c.2487 p.L829 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 60 8 11.76 56 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28358750 28358750 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 15 28358750 28358750 G C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.13988 p.S4663C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 53 13 19.70 52 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28387979 28387979 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 28387979 28387979 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.11538 p.F3846 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 23 15 39.47 38 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28422657 28422657 + Splice_Site SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 28422657 28422657 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known splice_site c.9164-2 e59-2 1.000 - - - no_errors HERC2 HGNC ENSG00000128731 32 4 11.11 16 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28436121 28436121 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 28436121 28436121 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.8639 p.D2880G 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 32 13 28.89 72 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28437168 28437168 + Missense_Mutation SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 28437168 28437168 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.8390 p.Q2797R 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 11 4 26.67 35 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28443555 28443555 + Silent SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 28443555 28443555 A T SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.7980 p.S2660 0.834 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 127 42 24.71 174 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28463704 28463704 + Missense_Mutation SNP T T G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 15 28463704 28463704 T G SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.5959 p.S1987R 0.311 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 129 28 17.72 128 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28510988 28510988 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 28510988 28510988 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.1731 p.R577 0.430 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 17 14 45.16 42 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28515957 28515957 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 28515957 28515957 G C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.1141 p.Q381E 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 26 12 31.58 44 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28517458 28517458 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 15 28517458 28517458 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.986 p.S329F 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 22 5 18.52 43 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28517458 28517458 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 28517458 28517458 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.986 p.S329F 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 97 23 19.17 133 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28525273 28525273 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 15 28525273 28525273 C T SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.483 p.E161 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 64 35 35.35 74 0 0.00 HERC2 8924 genome.wustl.edu 37 15 28566548 28566548 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 28566548 28566548 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.32 p.Q11R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 10 4 28.57 12 0 0.00 HERC2P2 400322 genome.wustl.edu 37 15 23283144 23283144 + RNA SNP A A G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 15 23283144 23283144 A G SNP HERC2P2 ENST00000560464 human ensembl 70_37 -1 known rna NULL NULL 0.299 - - - no_errors HERC2P2 HGNC ENSG00000140181 54 6 10.00 58 0 0.00 HERC2P2 400322 genome.wustl.edu 37 15 23303929 23303929 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 23303929 23303929 G A SNP HERC2P2 ENST00000560464 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 22 6 21.43 27 0 0.00 HERC2P2 400322 genome.wustl.edu 37 15 23326292 23326292 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 23326292 23326292 C G SNP HERC2P2 ENST00000560464 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 33 6 15.38 60 0 0.00 HERC2P3 283755 genome.wustl.edu 37 15 20588705 20588705 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 20588705 20588705 C A SNP HERC2P3 ENST00000426501 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 15 3 16.67 28 0 0.00 HERC2P3 283755 genome.wustl.edu 37 15 20649647 20649647 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 20649647 20649647 C T SNP HERC2P3 ENST00000426501 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 188 31 14.16 235 0 0.00 HERC2P4 100289574 genome.wustl.edu 37 16 32163483 32163483 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 32163483 32163483 G A SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 178 24 11.88 221 0 0.00 HERC2P4 100289574 genome.wustl.edu 37 16 32163830 32163830 + RNA SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 32163830 32163830 C A SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 243 33 11.96 287 0 0.00 HERC2P4 100289574 genome.wustl.edu 37 16 32164214 32164214 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 32164214 32164214 G T SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 132 32 19.51 250 0 0.00 HERC2P4 100289574 genome.wustl.edu 37 16 32182155 32182155 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 32182155 32182155 C T SNP HERC2P4 ENST00000564730 human ensembl 70_37 -1 known rna NULL NULL 0.958 - - - no_errors HERC2P4 HGNC ENSG00000230267 51 18 26.09 39 0 0.00 HERC2P4 100289574 genome.wustl.edu 37 16 32182511 32182511 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 16 32182511 32182511 G T SNP HERC2P4 ENST00000564730 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 36 24 40.00 45 0 0.00 HERC2P9 440248 genome.wustl.edu 37 15 28882584 28882584 + RNA SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 28882584 28882584 C A SNP HERC2P9 ENST00000529353 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC ENSG00000206149 98 90 47.87 181 0 0.00 HERC2P9 440248 genome.wustl.edu 37 15 28886645 28886645 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 28886645 28886645 C T SNP HERC2P9 ENST00000529353 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors HERC2P9 HGNC ENSG00000206149 44 10 18.52 58 0 0.00 HERC2P9 440248 genome.wustl.edu 37 15 28913434 28913434 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 28913434 28913434 C T SNP HERC2P9 ENST00000528584 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC ENSG00000206149 22 9 29.03 35 0 0.00 HERC3 8916 genome.wustl.edu 37 4 89628057 89628057 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 89628057 89628057 G T SNP HERC3 ENST00000264345 human ensembl 70_37 +1 known silent c.3099 p.L1033 0.991 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 34 4 10.53 39 0 0.00 HERC4 26091 genome.wustl.edu 37 10 69682816 69682816 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 69682816 69682816 C A SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known nonsense c.3046 p.E1016* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 12 9 42.86 20 0 0.00 HERC4 26091 genome.wustl.edu 37 10 69716602 69716603 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 69716602 69716603 - A INS HERC4 ENST00000480158 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 21 3 12.50 15 0 0.00 HERC4 26091 genome.wustl.edu 37 10 69726539 69726539 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 69726539 69726539 C T SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known silent c.1827 p.Q609 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 17 15 45.45 49 0 0.00 HERC4 26091 genome.wustl.edu 37 10 69748552 69748552 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 69748552 69748552 C A SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known missense c.1674 p.K558N 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 18 18 48.65 51 0 0.00 HERC4 26091 genome.wustl.edu 37 10 69832930 69832930 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 69832930 69832930 G A SNP HERC4 ENST00000395185 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors HERC4 HGNC ENSG00000148634 10 5 33.33 15 0 0.00 HERC5 51191 genome.wustl.edu 37 4 89407319 89407319 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 89407319 89407319 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known silent c.1791 p.L597 0.170 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 38 60 61.22 58 0 0.00 HERC5 51191 genome.wustl.edu 37 4 89408255 89408255 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 89408255 89408255 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.1887 p.F629L 0.997 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 24 14 36.84 38 0 0.00 HERC5 51191 genome.wustl.edu 37 4 89421099 89421099 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 89421099 89421099 G A SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.2467 p.D823N 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 22 9 29.03 38 0 0.00 HERC5 51191 genome.wustl.edu 37 4 89425707 89425707 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89425707 89425707 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.2828 p.A943G 0.989 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 40 18 31.03 56 0 0.00 HERC5 51191 genome.wustl.edu 37 4 89426997 89426997 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 89426997 89426997 G A SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.3043 p.E1015K 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 18 11 36.67 59 0 0.00 HERC6 55008 genome.wustl.edu 37 4 89304372 89304372 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 89304372 89304372 G T SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known splice_site c.200-1 e2-1 1.000 - - - no_errors HERC6 HGNC ENSG00000138642 25 13 34.21 62 0 0.00 HERC6 55008 genome.wustl.edu 37 4 89326036 89326036 + Silent SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 89326036 89326036 T C SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known silent c.1101 p.S367 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 50 15 23.08 64 0 0.00 HERC6 55008 genome.wustl.edu 37 4 89361087 89361087 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 89361087 89361087 G C SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known missense c.2617 p.E873Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 49 24 32.88 58 0 0.00 HERC6 55008 genome.wustl.edu 37 4 89363429 89363429 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 89363429 89363429 G A SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known silent c.2886 p.Q962 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 38 10 20.83 35 0 0.00 HERC6 55008 genome.wustl.edu 37 4 89363478 89363478 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 89363478 89363478 C T SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known missense c.2935 p.H979Y 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 32 4 11.11 32 0 0.00 HERPUD1 9709 genome.wustl.edu 37 16 56966192 56966192 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 56966192 56966192 C G SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known silent c.36 p.L12 0.083 smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 16 8 33.33 23 0 0.00 HERPUD1 9709 genome.wustl.edu 37 16 56966267 56966267 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 56966267 56966267 C G SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known silent c.111 p.L37 1.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 6 5 45.45 16 0 0.00 HERPUD1 9709 genome.wustl.edu 37 16 56976054 56976054 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 56976054 56976054 G T SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known missense c.916 p.G306W 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 29 20 40.82 51 0 0.00 HERPUD2 64224 genome.wustl.edu 37 7 35674821 35674821 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 35674821 35674821 G A SNP HERPUD2 ENST00000311350 human ensembl 70_37 -1 known missense c.865 p.L289F 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 18 22 55.00 52 0 0.00 HES1 3280 genome.wustl.edu 37 3 193854273 193854273 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 193854273 193854273 G A SNP HES1 ENST00000232424 human ensembl 70_37 +1 known missense c.104 p.R35K 1.000 pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC ENSG00000114315 22 5 18.52 21 0 0.00 HES1 3280 genome.wustl.edu 37 3 193855591 193855591 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 193855591 193855591 C G SNP HES1 ENST00000232424 human ensembl 70_37 +1 known missense c.412 p.R138G 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC ENSG00000114315 68 22 24.18 29 0 0.00 HES1 3280 genome.wustl.edu 37 3 193855740 193855740 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 193855740 193855740 C T SNP HES1 ENST00000232424 human ensembl 70_37 +1 known silent c.561 p.L187 0.966 NULL pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC ENSG00000114315 11 14 56.00 9 0 0.00 HES4 57801 genome.wustl.edu 37 1 934943 934943 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 934943 934943 C T SNP HES4 ENST00000428771 human ensembl 70_37 -1 known silent c.333 p.V111 0.994 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES4 HGNC ENSG00000188290 17 12 40.00 44 0 0.00 HES4 57801 genome.wustl.edu 37 1 935157 935157 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 935157 935157 G C SNP HES4 ENST00000428771 human ensembl 70_37 -1 known missense c.197 p.P66R 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES4 HGNC ENSG00000188290 41 22 34.92 45 0 0.00 HESX1 8820 genome.wustl.edu 37 3 57232308 57232308 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 57232308 57232308 G A SNP HESX1 ENST00000295934 human ensembl 70_37 -1 known missense c.475 p.R159W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HESX1 HGNC ENSG00000163666 126 23 15.44 112 1 0.88 HESX1 8820 genome.wustl.edu 37 3 57232436 57232436 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 57232436 57232436 C G SNP HESX1 ENST00000295934 human ensembl 70_37 -1 known missense c.442 p.E148Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HESX1 HGNC ENSG00000163666 34 4 10.53 45 0 0.00 HEXA 3073 genome.wustl.edu 37 15 72638962 72638962 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 72638962 72638962 G A SNP HEXA ENST00000268097 human ensembl 70_37 -1 known silent c.1236 p.F412 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXA HGNC ENSG00000213614 31 40 56.34 34 0 0.00 HEXB 3074 genome.wustl.edu 37 5 73981268 73981268 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 73981268 73981268 C T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known silent c.183 p.L61 0.000 NULL pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 4 8 66.67 15 0 0.00 HEXB 3074 genome.wustl.edu 37 5 74009455 74009455 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 74009455 74009455 G T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known missense c.896 p.G299V 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 30 18 37.50 43 0 0.00 HEXB 3074 genome.wustl.edu 37 5 74011394 74011394 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 74011394 74011394 C T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known missense c.961 p.P321S 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 41 15 26.79 57 0 0.00 HEXDC 284004 genome.wustl.edu 37 17 80377706 80377706 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 80377706 80377706 T A SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known missense c.31 p.L11I 0.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 14 4 22.22 44 0 0.00 HEXDC 284004 genome.wustl.edu 37 17 80393586 80393586 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 80393586 80393586 G A SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known missense c.469 p.E157K 0.918 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 42 24 36.36 75 0 0.00 HEXDC 284004 genome.wustl.edu 37 17 80399095 80399095 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80399095 80399095 C G SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known nonsense c.1205 p.S402* 0.999 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 4 9 69.23 14 0 0.00 HEXDC 284004 genome.wustl.edu 37 17 80400180 80400180 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80400180 80400180 C G SNP HEXDC ENST00000327949 human ensembl 70_37 +1 known missense c.1381 p.L461V 0.451 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 37 37 50.00 54 0 0.00 HEXIM1 10614 genome.wustl.edu 37 17 43226681 43226681 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43226681 43226681 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known missense c.124 p.E42Q 0.984 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 43 29 39.73 43 0 0.00 HEXIM1 10614 genome.wustl.edu 37 17 43226812 43226812 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 43226812 43226812 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known silent c.255 p.L85 0.705 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 17 10 37.04 33 0 0.00 HEXIM1 10614 genome.wustl.edu 37 17 43226833 43226833 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 43226833 43226833 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known missense c.276 p.Q92H 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 13 9 40.91 22 0 0.00 HEXIM2 124790 genome.wustl.edu 37 17 43246675 43246675 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246675 43246675 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.360 p.Q120H 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 36 15 29.41 51 0 0.00 HEXIM2 124790 genome.wustl.edu 37 17 43246703 43246703 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246703 43246703 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.388 p.E130Q 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 37 19 33.93 55 0 0.00 HEXIM2 124790 genome.wustl.edu 37 17 43246907 43246907 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246907 43246907 G A SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.592 p.E198K 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 57 29 33.72 87 0 0.00 HEXIM2 124790 genome.wustl.edu 37 17 43246949 43246949 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43246949 43246949 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.634 p.E212Q 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 64 32 33.33 82 0 0.00 HEXIM2 124790 genome.wustl.edu 37 17 43247063 43247063 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43247063 43247063 G C SNP HEXIM2 ENST00000307275 human ensembl 70_37 +1 known missense c.748 p.E250Q 1.000 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 42 16 27.59 41 0 0.00 HEY1 23462 genome.wustl.edu 37 8 80677293 80677294 + RNA INS - - A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 8 80677293 80677294 - A INS HEY1 ENST00000435063 human ensembl 70_37 -1 known rna NULL NULL 0.939:0.976 - - - no_errors HEY1 HGNC ENSG00000164683 6 3 33.33 10 0 0.00 HEY1 23462 genome.wustl.edu 37 8 80679867 80679867 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 80679867 80679867 G T SNP HEY1 ENST00000337919 human ensembl 70_37 -1 known nonsense c.32 p.S11* 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HEY1 HGNC ENSG00000164683 107 42 28.19 85 0 0.00 HEY2 23493 genome.wustl.edu 37 6 126070928 126070928 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 126070928 126070928 G C SNP HEY2 ENST00000368364 human ensembl 70_37 +1 known missense c.6 p.K2N 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 48 6 11.11 54 0 0.00 HEY2 23493 genome.wustl.edu 37 6 126080948 126080948 + Nonstop_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 126080948 126080948 A C SNP HEY2 ENST00000368364 human ensembl 70_37 +1 known nonstop c.1014 p.*338Y 0.919 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 11 5 31.25 41 0 0.00 HEYL 26508 genome.wustl.edu 37 1 40092744 40092744 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 40092744 40092744 C T SNP HEYL ENST00000372852 human ensembl 70_37 -1 known missense c.422 p.R141H 0.334 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HEYL HGNC ENSG00000163909 41 42 50.60 67 0 0.00 HFE 3077 genome.wustl.edu 37 6 26091204 26091204 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 26091204 26091204 G A SNP HFE ENST00000357618 human ensembl 70_37 +1 known missense c.212 p.R71Q 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HFE HGNC ENSG00000010704 50 27 35.06 93 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91727882 91727882 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 91727882 91727882 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.4154 p.S1385F 0.004 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 56 22 28.21 72 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91731634 91731634 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 91731634 91731634 C A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3914 p.R1305M 0.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 30 4 11.76 39 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91742578 91742578 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 91742578 91742578 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3433 p.H1145Y 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 171 40 18.96 71 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91778974 91778974 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 91778974 91778974 C G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3323 p.R1108T 0.672 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 67 23 25.56 33 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91781501 91781501 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 91781501 91781501 T G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3011 p.E1004A 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 10 7 41.18 14 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91784910 91784910 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 91784910 91784910 C G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.2620 p.D874H 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 26 10 27.78 26 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91790314 91790314 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 91790314 91790314 C T SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.2345 p.R782K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 19 20 51.28 18 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91844728 91844728 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 91844728 91844728 C T SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.1050 p.W350* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 20 4 16.67 37 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91851246 91851246 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 91851246 91851246 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.640 p.Q214* 0.018 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 56 25 30.86 68 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91851329 91851329 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 91851329 91851329 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.557 p.S186F 0.004 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 12 14 53.85 52 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91859873 91859873 + Nonsense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 91859873 91859873 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.271 p.Q91* 0.303 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 54 28 34.15 82 0 0.00 HFM1 164045 genome.wustl.edu 37 1 91859929 91859929 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 91859929 91859929 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.215 p.S72L 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 38 12 24.00 48 0 0.00 HGD 3081 genome.wustl.edu 37 3 120363243 120363243 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 120363243 120363243 A G SNP HGD ENST00000283871 human ensembl 70_37 -1 known missense c.697 p.W233R 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 177 33 15.71 176 0 0.00 HGD 3081 genome.wustl.edu 37 3 120389327 120389327 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 120389327 120389327 C T SNP HGD ENST00000283871 human ensembl 70_37 -1 known missense c.229 p.D77N 0.994 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 68 33 32.67 77 0 0.00 HGF 3082 genome.wustl.edu 37 7 81374376 81374376 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 81374376 81374376 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 22 17 43.59 37 0 0.00 HGF 3082 genome.wustl.edu 37 7 81374376 81374376 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 81374376 81374376 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 34 5 12.82 42 0 0.00 HGF 3082 genome.wustl.edu 37 7 81388032 81388032 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 81388032 81388032 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.343 p.E115Q 1.000 pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 30 11 26.83 73 0 0.00 HGF 3082 genome.wustl.edu 37 7 81392026 81392026 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 81392026 81392026 C T SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.251 p.C84Y 1.000 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 97 31 24.22 96 0 0.00 HGF 3082 genome.wustl.edu 37 7 81392151 81392151 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 81392151 81392151 G T SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.126 p.F42L 0.998 smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 16 21 56.76 80 0 0.00 HGFAC 3083 genome.wustl.edu 37 4 3444814 3444814 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 4 3444814 3444814 C G SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.336 p.F112L 0.990 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_FN_type2_col-bd pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 19 16 45.71 29 0 0.00 HGFAC 3083 genome.wustl.edu 37 4 3446052 3446052 + Nonsense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 4 3446052 3446052 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known nonsense c.613 p.E205* 0.664 pfam_Fibronectin_type1,smart_Fibronectin_type1,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Fibronectin_type1 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 20 12 37.50 26 0 0.00 HGFAC 3083 genome.wustl.edu 37 4 3447863 3447863 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 3447863 3447863 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1197 p.K399N 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 5 5 50.00 22 0 0.00 HGFAC 3083 genome.wustl.edu 37 4 3447866 3447866 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 3447866 3447866 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1200 p.K400N 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 5 5 50.00 23 0 0.00 HGFAC 3083 genome.wustl.edu 37 4 3451045 3451045 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 3451045 3451045 G A SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1867 p.G623R 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 88 52 37.14 153 0 0.00 HGS 9146 genome.wustl.edu 37 17 79660922 79660922 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79660922 79660922 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known missense c.863 p.S288L 0.332 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 50 8 13.79 32 0 0.00 HGS 9146 genome.wustl.edu 37 17 79660949 79660949 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79660949 79660949 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known missense c.890 p.S297L 0.967 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 46 11 19.30 32 0 0.00 HGS 9146 genome.wustl.edu 37 17 79667754 79667754 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79667754 79667754 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known silent c.2046 p.L682 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 15 3 16.67 21 0 0.00 HGSNAT 138050 genome.wustl.edu 37 8 43025773 43025773 + Nonsense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 43025773 43025773 C T SNP HGSNAT ENST00000458501 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 0.031 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 13 3 18.75 14 0 0.00 HHATL 57467 genome.wustl.edu 37 3 42735141 42735141 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 42735141 42735141 G A SNP HHATL ENST00000310417 human ensembl 70_37 -1 known silent c.1216 p.L406 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 31 19 38.00 49 0 0.00 HHIPL2 79802 genome.wustl.edu 37 1 222712003 222712003 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 222712003 222712003 C A SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known missense c.1564 p.D522Y 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 13 14 51.85 42 0 0.00 HHIPL2 79802 genome.wustl.edu 37 1 222712018 222712018 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 222712018 222712018 G A SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known silent c.1549 p.L517 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 57 24 29.63 49 0 0.00 HHIPL2 79802 genome.wustl.edu 37 1 222717481 222717481 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 1 222717481 222717481 C T SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known silent c.372 p.T124 0.435 pfam_Folate_rcpt-like,superfamily_Saposin-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 20 12 37.50 17 0 0.00 HHLA1 10086 genome.wustl.edu 37 8 133107823 133107823 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 133107823 133107823 C T SNP HHLA1 ENST00000414222 human ensembl 70_37 -1 known missense c.391 p.A131T 0.009 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 38 25 39.68 47 0 0.00 HHLA1 10086 genome.wustl.edu 37 8 133113482 133113482 + Silent SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 133113482 133113482 T C SNP HHLA1 ENST00000434736 human ensembl 70_37 -1 novel silent c.213 p.G71 0.000 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 23 10 30.30 38 0 0.00 HHLA2 11148 genome.wustl.edu 37 3 108074109 108074109 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 108074109 108074109 C G SNP HHLA2 ENST00000357759 human ensembl 70_37 +1 known missense c.566 p.S189C 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors HHLA2 HGNC ENSG00000114455 17 15 46.88 27 0 0.00 HIAT1 64645 genome.wustl.edu 37 1 100534090 100534090 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 100534090 100534090 C A SNP HIAT1 ENST00000370152 human ensembl 70_37 +1 known missense c.767 p.S256Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 21 21 50.00 38 0 0.00 HIAT1 64645 genome.wustl.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 100534122 100534122 T - DEL HIAT1 ENST00000370152 human ensembl 70_37 +1 known frame_shift_del c.799 p.L269fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 36 16 30.77 56 0 0.00 HIATL1 84641 genome.wustl.edu 37 9 97177517 97177517 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 97177517 97177517 G A SNP HIATL1 ENST00000375344 human ensembl 70_37 +1 known silent c.186 p.L62 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 85 56 39.72 150 0 0.00 HIBCH 26275 genome.wustl.edu 37 2 191114420 191114420 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 191114420 191114420 C G SNP HIBCH ENST00000359678 human ensembl 70_37 -1 known missense c.696 p.L232F 1.000 NULL pfam_Crotonase_core - no_errors HIBCH HGNC ENSG00000198130 19 6 24.00 34 0 0.00 HIC2 23119 genome.wustl.edu 37 22 21799586 21799586 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21799586 21799586 C A SNP HIC2 ENST00000407464 human ensembl 70_37 +1 known silent c.402 p.L134 0.993 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 17 16 48.48 36 0 0.00 HID1 283987 genome.wustl.edu 37 17 72952038 72952038 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72952038 72952038 G A SNP HID1 ENST00000425042 human ensembl 70_37 -1 known silent c.1485 p.L495 1.000 pfam_Dymeclin pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 30 4 11.76 52 0 0.00 HID1 283987 genome.wustl.edu 37 17 72963925 72963925 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 72963925 72963925 G C SNP HID1 ENST00000579818 human ensembl 70_37 -1 known rna NULL NULL 0.076 - - - no_errors HID1 HGNC ENSG00000167861 37 13 26.00 21 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62162552 62162552 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 62162552 62162552 G C SNP HIF1A ENST00000337138 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 37 25 40.32 44 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62188340 62188340 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 62188340 62188340 G C SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.412 p.D138H 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 52 38 42.22 88 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62193397 62193397 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62193397 62193397 T C SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors HIF1A HGNC ENSG00000100644 6 3 33.33 30 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62193399 62193399 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62193399 62193399 A C SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors HIF1A HGNC ENSG00000100644 4 6 60.00 30 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62193410 62193410 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 62193410 62193410 C T SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.075 - - - no_errors HIF1A HGNC ENSG00000100644 14 9 39.13 33 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62203827 62203827 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 62203827 62203827 G A SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.1321 p.D441N 1.000 prints_HIF-1_alpha pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 23 14 37.84 35 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62207503 62207503 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 62207503 62207503 C G SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.1762 p.P588A 1.000 pfam_HIF_alpha_subunit pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 42 24 36.36 64 0 0.00 HIF1A 3091 genome.wustl.edu 37 14 62207863 62207863 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 62207863 62207863 C G SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.2122 p.H708D 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 14 8 36.36 33 0 0.00 HIF1AN 55662 genome.wustl.edu 37 10 102295784 102295784 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 102295784 102295784 C G SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known silent c.69 p.L23 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 6 10 62.50 21 0 0.00 HIF1AN 55662 genome.wustl.edu 37 10 102296254 102296254 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102296254 102296254 A C SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known silent c.264 p.G88 0.978 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 20 8 28.57 23 0 0.00 HIF1AN 55662 genome.wustl.edu 37 10 102296378 102296378 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 102296378 102296378 G A SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known missense c.388 p.E130K 0.994 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 9 5 35.71 19 0 0.00 HIF3A 64344 genome.wustl.edu 37 19 46807342 46807342 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 46807342 46807342 G A SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.214 p.A72T 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 18 4 18.18 25 0 0.00 HIF3A 64344 genome.wustl.edu 37 19 46807342 46807342 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 46807342 46807342 G A SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.214 p.A72T 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 36 6 14.29 21 0 0.00 HIF3A 64344 genome.wustl.edu 37 19 46815449 46815449 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 46815449 46815449 G C SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.802 p.D268H 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 44 7 13.73 39 0 0.00 HIF3A 64344 genome.wustl.edu 37 19 46838184 46838184 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 46838184 46838184 C A SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.1853 p.P618Q 0.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 41 8 16.33 49 0 0.00 HIGD2A 192286 genome.wustl.edu 37 5 175816403 175816403 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 175816403 175816403 C G SNP HIGD2A ENST00000274787 human ensembl 70_37 +1 known missense c.226 p.Q76E 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD2A HGNC ENSG00000146066 33 30 47.62 43 0 0.00 HILPDA 29923 genome.wustl.edu 37 7 128097963 128097964 + RNA INS - - A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 128097963 128097964 - A INS HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.015 - - - no_errors HILPDA HGNC ENSG00000135245 23 3 11.54 30 0 0.00 HILPDA 29923 genome.wustl.edu 37 7 128097963 128097964 + RNA INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 128097963 128097964 - A INS HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.015 - - - no_errors HILPDA HGNC ENSG00000135245 24 3 11.11 22 0 0.00 HILPDA 29923 genome.wustl.edu 37 7 128098199 128098199 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128098199 128098199 T - DEL HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HILPDA HGNC ENSG00000135245 75 12 13.79 76 0 0.00 HILS1 373861 genome.wustl.edu 37 17 48248955 48248955 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 48248955 48248955 G T SNP HILS1 ENST00000504307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HILS1 HGNC ENSG00000188662 32 4 11.11 63 0 0.00 HILS1 373861 genome.wustl.edu 37 17 48258430 48258430 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48258430 48258430 G A SNP HILS1 ENST00000504307 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors HILS1 HGNC ENSG00000188662 18 11 37.93 26 0 0.00 HINFP 25988 genome.wustl.edu 37 11 119003445 119003445 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 119003445 119003445 C T SNP HINFP ENST00000350777 human ensembl 70_37 +1 known missense c.829 p.R277C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 47 37 43.53 74 0 0.00 HINT1 3094 genome.wustl.edu 37 5 130495251 130495251 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 130495251 130495251 C G SNP HINT1 ENST00000304043 human ensembl 70_37 -1 known silent c.270 p.L90 0.315 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT,prints_Histidine_triad_HIT - no_errors HINT1 HGNC ENSG00000169567 41 8 16.33 43 0 0.00 HIP1 3092 genome.wustl.edu 37 7 75171284 75171284 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75171284 75171284 G C SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known nonsense c.2906 p.S969* 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 53 15 22.06 45 0 0.00 HIP1 3092 genome.wustl.edu 37 7 75172205 75172205 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 75172205 75172205 G A SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known missense c.2855 p.S952L 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 55 21 27.63 48 0 0.00 HIP1 3092 genome.wustl.edu 37 7 75192305 75192305 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 75192305 75192305 G A SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known silent c.954 p.A318 0.885 NULL pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 38 8 17.39 46 0 0.00 HIP1 3092 genome.wustl.edu 37 7 75221789 75221789 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 75221789 75221789 G C SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known missense c.228 p.F76L 0.994 pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 23 18 43.90 48 0 0.00 HIP1R 9026 genome.wustl.edu 37 12 123335842 123335842 + Nonsense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 123335842 123335842 C G SNP HIP1R ENST00000253083 human ensembl 70_37 +1 known nonsense c.575 p.S192* 1.000 pfam_ANTH pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1R HGNC ENSG00000130787 26 7 21.21 57 0 0.00 HIPK1 204851 genome.wustl.edu 37 1 114483792 114483792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 114483792 114483792 C G SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known missense c.787 p.H263D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC ENSG00000163349 22 17 42.50 38 0 0.00 HIPK1 204851 genome.wustl.edu 37 1 114498227 114498227 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 114498227 114498227 G C SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known missense c.1363 p.E455Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC ENSG00000163349 128 27 17.42 80 0 0.00 HIPK1 204851 genome.wustl.edu 37 1 114505025 114505025 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 114505025 114505025 C T SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known nonsense c.2068 p.Q690* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC ENSG00000163349 77 16 17.20 67 0 0.00 HIPK2 28996 genome.wustl.edu 37 7 139257806 139257806 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 139257806 139257806 G A SNP HIPK2 ENST00000406875 human ensembl 70_37 -1 known missense c.3464 p.S1155L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 76 15 16.48 57 0 0.00 HIPK4 147746 genome.wustl.edu 37 19 40890035 40890035 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 40890035 40890035 G A SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.477 p.F159 0.818 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC ENSG00000160396 58 16 21.62 86 0 0.00 HIPK4 147746 genome.wustl.edu 37 19 40895399 40895399 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 40895399 40895399 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.411 p.L137 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC ENSG00000160396 44 25 36.23 68 0 0.00 HIPK4 147746 genome.wustl.edu 37 19 40895684 40895684 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 40895684 40895684 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.126 p.L42 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC ENSG00000160396 56 9 13.85 97 0 0.00 HIPK4 147746 genome.wustl.edu 37 19 40895762 40895762 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 40895762 40895762 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.48 p.V16 0.986 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC ENSG00000160396 77 13 14.44 97 0 0.00 HIRA 7290 genome.wustl.edu 37 22 19349384 19349384 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 19349384 19349384 C G SNP HIRA ENST00000263208 human ensembl 70_37 -1 known missense c.1846 p.E616Q 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 260 64 19.75 306 0 0.00 HIRA 7290 genome.wustl.edu 37 22 19373227 19373227 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 19373227 19373227 G T SNP HIRA ENST00000263208 human ensembl 70_37 -1 known missense c.1146 p.S382R 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 32 4 11.11 35 0 0.00 HIRIP3 8479 genome.wustl.edu 37 16 30005773 30005773 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30005773 30005773 G T SNP HIRIP3 ENST00000279392 human ensembl 70_37 -1 known silent c.693 p.I231 0.001 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 35 4 10.26 28 0 0.00 HIRIP3 8479 genome.wustl.edu 37 16 30006990 30006990 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 30006990 30006990 G C SNP HIRIP3 ENST00000566471 human ensembl 70_37 -1 known rna NULL NULL 0.674 - - - no_errors HIRIP3 HGNC ENSG00000149929 13 8 38.10 15 0 0.00 HIST1H1A 3024 genome.wustl.edu 37 6 26017517 26017517 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26017517 26017517 C G SNP HIST1H1A ENST00000244573 human ensembl 70_37 -1 known missense c.444 p.K148N 0.024 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 201 65 24.44 297 0 0.00 HIST1H1A 3024 genome.wustl.edu 37 6 26017563 26017563 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 26017563 26017563 G A SNP HIST1H1A ENST00000244573 human ensembl 70_37 -1 known missense c.398 p.T133M 0.030 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 54 10 15.62 79 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834714 27834714 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 27834714 27834714 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.594 p.P198 0.208 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 58 28 32.56 63 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834714 27834714 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 27834714 27834714 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.594 p.P198 0.208 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 51 36 41.38 71 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834744 27834744 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 6 27834744 27834744 C G SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.564 p.K188N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 34 30 46.88 56 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834744 27834744 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 27834744 27834744 C G SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.564 p.K188N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 26 15 36.59 58 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834864 27834864 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 27834864 27834864 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.444 p.A148 0.007 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 28 9 24.32 29 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27834888 27834888 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 27834888 27834888 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.420 p.K140 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 21 14 40.00 27 0 0.00 HIST1H1B 3009 genome.wustl.edu 37 6 27835303 27835303 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 27835303 27835303 G A SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 33 14 29.17 25 0 0.00 HIST1H1C 3006 genome.wustl.edu 37 6 26056270 26056270 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26056270 26056270 C G SNP HIST1H1C ENST00000343677 human ensembl 70_37 -1 known missense c.387 p.K129N 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 13 8 38.10 14 0 0.00 HIST1H1C 3006 genome.wustl.edu 37 6 26056513 26056514 + Frame_Shift_Ins INS - - A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 26056513 26056514 - A INS HIST1H1C ENST00000343677 human ensembl 70_37 -1 known frame_shift_ins c.144_143 p.A49fs 0.998:1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 16 19 54.29 55 0 0.00 HIST1H1E 3008 genome.wustl.edu 37 6 26156664 26156664 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26156664 26156664 G T SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known nonsense c.46 p.E16* 0.736 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 20 4 16.67 32 0 0.00 HIST1H1E 3008 genome.wustl.edu 37 6 26156684 26156684 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26156684 26156684 G A SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.66 p.K22 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 20 13 39.39 41 0 0.00 HIST1H1E 3008 genome.wustl.edu 37 6 26156742 26156742 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26156742 26156742 G C SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known missense c.124 p.E42Q 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 6 38 84.44 49 0 0.00 HIST1H1E 3008 genome.wustl.edu 37 6 26156771 26156771 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26156771 26156771 C T SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.153 p.S51 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 46 26 36.11 61 0 0.00 HIST1H1E 3008 genome.wustl.edu 37 6 26157092 26157092 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26157092 26157092 G A SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.474 p.A158 0.001 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 20 3 13.04 29 0 0.00 HIST1H1T 3010 genome.wustl.edu 37 6 26107819 26107819 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 26107819 26107819 C A SNP HIST1H1T ENST00000338379 human ensembl 70_37 -1 known missense c.503 p.R168I 0.570 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 17 10 35.71 29 0 0.00 HIST1H2AA 221613 genome.wustl.edu 37 6 25726560 25726560 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 25726560 25726560 G A SNP HIST1H2AA ENST00000297012 human ensembl 70_37 -1 known silent c.196 p.L66 0.995 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 104 15 12.61 54 0 0.00 HIST1H2AA 221613 genome.wustl.edu 37 6 25726564 25726564 + Silent SNP A A C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 25726564 25726564 A C SNP HIST1H2AA ENST00000297012 human ensembl 70_37 -1 known silent c.192 p.L64 0.997 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 103 13 11.21 55 0 0.00 HIST1H2AB 8335 genome.wustl.edu 37 6 26033405 26033405 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 26033405 26033405 C T SNP HIST1H2AB ENST00000259791 human ensembl 70_37 -1 known silent c.392 p.*131 0.936 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 57 29 33.72 67 0 0.00 HIST1H2AB 8335 genome.wustl.edu 37 6 26033628 26033628 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26033628 26033628 C G SNP HIST1H2AB ENST00000259791 human ensembl 70_37 -1 known missense c.169 p.E57Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 54 16 22.86 61 0 0.00 HIST1H2AE 3012 genome.wustl.edu 37 6 26217440 26217440 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 26217440 26217440 A G SNP HIST1H2AE ENST00000303910 human ensembl 70_37 +1 known missense c.238 p.I80V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 83 30 26.55 151 0 0.00 HIST1H2AE 3012 genome.wustl.edu 37 6 26217568 26217568 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 26217568 26217568 G A SNP HIST1H2AE ENST00000303910 human ensembl 70_37 +1 known silent c.366 p.E122 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 63 42 40.00 74 0 0.00 HIST1H2AG 8969 genome.wustl.edu 37 6 27101231 27101231 + Silent SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 6 27101231 27101231 G T SNP HIST1H2AG ENST00000359193 human ensembl 70_37 +1 known silent c.381 p.A127 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 86 27 23.89 66 0 0.00 HIST1H2AH 85235 genome.wustl.edu 37 6 27114916 27114916 + Silent SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 27114916 27114916 A G SNP HIST1H2AH ENST00000377459 human ensembl 70_37 +1 known silent c.9 p.G3 0.994 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 47 18 27.69 57 0 0.00 HIST1H2AH 85235 genome.wustl.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27115271 27115271 G A SNP HIST1H2AH ENST00000377459 human ensembl 70_37 +1 known missense c.364 p.E122K 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 60 20 25.00 72 0 0.00 HIST1H2AI 8329 genome.wustl.edu 37 6 27776279 27776279 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 27776279 27776279 C A SNP HIST1H2AI ENST00000358739 human ensembl 70_37 +1 known missense c.292 p.L98M 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 26 23 46.94 20 0 0.00 HIST1H2AI 8329 genome.wustl.edu 37 6 27776279 27776279 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 27776279 27776279 C A SNP HIST1H2AI ENST00000358739 human ensembl 70_37 +1 known missense c.292 p.L98M 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 30 23 43.40 57 0 0.00 HIST1H2AJ 8331 genome.wustl.edu 37 6 27782446 27782446 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27782446 27782446 G A SNP HIST1H2AJ ENST00000333151 human ensembl 70_37 -1 known nonsense c.73 p.Q25* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 42 9 17.65 33 0 0.00 HIST1H2AK 8330 genome.wustl.edu 37 6 27805844 27805844 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 27805844 27805844 C A SNP HIST1H2AK ENST00000330180 human ensembl 70_37 -1 known nonsense c.274 p.E92* 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 147 26 15.03 261 0 0.00 HIST1H2AK 8330 genome.wustl.edu 37 6 27805978 27805978 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27805978 27805978 C A SNP HIST1H2AK ENST00000330180 human ensembl 70_37 -1 known missense c.140 p.G47V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 65 23 26.14 59 0 0.00 HIST1H2AL 8332 genome.wustl.edu 37 6 27833221 27833221 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 27833221 27833221 G C SNP HIST1H2AL ENST00000357320 human ensembl 70_37 +1 known missense c.89 p.R30P 0.999 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 54 28 34.15 65 0 0.00 HIST1H2AL 8332 genome.wustl.edu 37 6 27833221 27833221 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 27833221 27833221 G C SNP HIST1H2AL ENST00000357320 human ensembl 70_37 +1 known missense c.89 p.R30P 0.999 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 44 28 38.89 55 0 0.00 HIST1H2BC 8347 genome.wustl.edu 37 6 26123904 26123904 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26123904 26123904 C T SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 86 54 38.57 134 0 0.00 HIST1H2BC 8347 genome.wustl.edu 37 6 26123911 26123911 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 26123911 26123911 G C SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.222 p.I74M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 119 27 18.49 182 0 0.00 HIST1H2BC 8347 genome.wustl.edu 37 6 26124126 26124126 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 26124126 26124126 C G SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.7 p.E3Q 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 25 22 46.81 52 0 0.00 HIST1H2BD 3017 genome.wustl.edu 37 6 26158407 26158407 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 26158407 26158407 C T SNP HIST1H2BD ENST00000289316 human ensembl 70_37 +1 known missense c.10 p.P4S 0.984 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC ENSG00000158373 182 52 22.22 83 0 0.00 HIST1H2BD 3017 genome.wustl.edu 37 6 26158492 26158492 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 26158492 26158492 G T SNP HIST1H2BD ENST00000289316 human ensembl 70_37 +1 known missense c.95 p.R32L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC ENSG00000158373 86 48 35.82 132 0 0.00 HIST1H2BF 8343 genome.wustl.edu 37 6 26199793 26199793 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26199793 26199793 G A SNP HIST1H2BF ENST00000359985 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 27 10 27.03 80 0 0.00 HIST1H2BG 8339 genome.wustl.edu 37 6 26216532 26216532 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 26216532 26216532 C G SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.340 p.E114Q 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 51 29 36.25 86 0 0.00 HIST1H2BG 8339 genome.wustl.edu 37 6 26216559 26216559 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 26216559 26216559 C T SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.313 p.G105R 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 69 22 24.18 110 0 0.00 HIST1H2BG 8339 genome.wustl.edu 37 6 26216847 26216847 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 26216847 26216847 G A SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.25 p.P9S 0.997 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 77 12 13.48 84 0 0.00 HIST1H2BH 8345 genome.wustl.edu 37 6 26251947 26251947 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26251947 26251947 G C SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.69 p.Q23H 0.998 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 96 21 17.95 76 0 0.00 HIST1H2BH 8345 genome.wustl.edu 37 6 26252209 26252209 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 26252209 26252209 G A SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.331 p.A111T 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 73 19 20.65 70 0 0.00 HIST1H2BH 8345 genome.wustl.edu 37 6 26252218 26252218 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 26252218 26252218 G C SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.340 p.E114Q 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 62 35 36.08 77 0 0.00 HIST1H2BI 8346 genome.wustl.edu 37 6 26273432 26273432 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26273432 26273432 G A SNP HIST1H2BI ENST00000377733 human ensembl 70_37 +1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BI HGNC ENSG00000168242 189 47 19.92 310 0 0.00 HIST1H2BK 85236 genome.wustl.edu 37 6 27114563 27114563 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 27114563 27114563 C A SNP HIST1H2BK ENST00000356950 human ensembl 70_37 -1 known silent c.15 p.A5 0.003 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 50 27 35.06 89 0 0.00 HIST1H2BL 8340 genome.wustl.edu 37 6 27775463 27775463 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 27775463 27775463 G C SNP HIST1H2BL ENST00000377401 human ensembl 70_37 -1 known missense c.222 p.I74M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 97 63 39.38 141 0 0.00 HIST1H2BL 8340 genome.wustl.edu 37 6 27775463 27775463 + Silent SNP G G T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 6 27775463 27775463 G T SNP HIST1H2BL ENST00000377401 human ensembl 70_37 -1 known silent c.222 p.I74 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 59 161 73.18 180 0 0.00 HIST1H2BM 8342 genome.wustl.edu 37 6 27783096 27783096 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 27783096 27783096 C T SNP HIST1H2BM ENST00000359465 human ensembl 70_37 +1 known missense c.275 p.S92L 0.989 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC ENSG00000196374 57 37 39.36 101 0 0.00 HIST1H3A 8350 genome.wustl.edu 37 6 26020749 26020749 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 26020749 26020749 C G SNP HIST1H3A ENST00000357647 human ensembl 70_37 +1 known missense c.32 p.S11C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3A HGNC ENSG00000198366 25 9 26.47 18 0 0.00 HIST1H3B 8358 genome.wustl.edu 37 6 26032045 26032045 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 26032045 26032045 C T SNP HIST1H3B ENST00000244661 human ensembl 70_37 -1 known missense c.244 p.D82N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 37 35 48.61 104 0 0.00 HIST1H3C 8352 genome.wustl.edu 37 6 26045675 26045675 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 26045675 26045675 G T SNP HIST1H3C ENST00000540144 human ensembl 70_37 +1 known missense c.37 p.G13C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 23 42 64.62 30 0 0.00 HIST1H3C 8352 genome.wustl.edu 37 6 26045930 26045930 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26045930 26045930 G C SNP HIST1H3C ENST00000540144 human ensembl 70_37 +1 known missense c.292 p.E98Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 98 13 11.71 99 0 0.00 HIST1H3D 8351 genome.wustl.edu 37 6 26197326 26197326 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 26197326 26197326 C T SNP HIST1H3D ENST00000356476 human ensembl 70_37 -1 known silent c.153 p.E51 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC ENSG00000197409 104 31 22.96 126 0 0.00 HIST1H3E 8353 genome.wustl.edu 37 6 26225698 26225698 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 26225698 26225698 G C SNP HIST1H3E ENST00000360408 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 20 51 70.83 103 0 0.00 HIST1H3E 8353 genome.wustl.edu 37 6 26225698 26225698 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 26225698 26225698 G C SNP HIST1H3E ENST00000360408 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 5 21 80.77 18 0 0.00 HIST1H3F 8968 genome.wustl.edu 37 6 26250758 26250758 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26250758 26250758 C T SNP HIST1H3F ENST00000446824 human ensembl 70_37 -1 known missense c.76 p.A26T 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 26 14 35.00 18 0 0.00 HIST1H3G 8355 genome.wustl.edu 37 6 26271487 26271487 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26271487 26271487 G A SNP HIST1H3G ENST00000305910 human ensembl 70_37 -1 known silent c.126 p.Y42 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 37 18 32.73 53 0 0.00 HIST1H3H 8357 genome.wustl.edu 37 6 27778143 27778143 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27778143 27778143 G A SNP HIST1H3H ENST00000369163 human ensembl 70_37 +1 known missense c.292 p.E98K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3H HGNC ENSG00000203813 62 12 16.22 89 0 0.00 HIST1H3I 8354 genome.wustl.edu 37 6 27839778 27839778 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 27839778 27839778 C G SNP HIST1H3I ENST00000328488 human ensembl 70_37 -1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 64 32 33.33 84 0 0.00 HIST1H3I 8354 genome.wustl.edu 37 6 27839983 27839983 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 27839983 27839983 C G SNP HIST1H3I ENST00000328488 human ensembl 70_37 -1 known missense c.111 p.K37N 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 78 28 26.42 68 0 0.00 HIST1H3J 8356 genome.wustl.edu 37 6 27858549 27858549 + Missense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 27858549 27858549 C A SNP HIST1H3J ENST00000359303 human ensembl 70_37 -1 known missense c.22 p.A8S 0.998 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3J HGNC ENSG00000197153 38 14 26.92 48 0 0.00 HIST1H3J 8356 genome.wustl.edu 37 6 27858575 27858575 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 27858575 27858575 G C SNP HIST1H3J ENST00000479986 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors HIST1H3J HGNC ENSG00000197153 25 10 28.57 68 0 0.00 HIST1H4B 8366 genome.wustl.edu 37 6 26027476 26027476 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 26027476 26027476 G A SNP HIST1H4B ENST00000377364 human ensembl 70_37 -1 known missense c.5 p.S2F 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 3 22 88.00 27 0 0.00 HIST1H4C 8364 genome.wustl.edu 37 6 26104310 26104310 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 26104310 26104310 G C SNP HIST1H4C ENST00000377803 human ensembl 70_37 +1 known missense c.135 p.K45N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 36 10 21.74 38 0 0.00 HIST1H4C 8364 genome.wustl.edu 37 6 26104486 26104486 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 26104486 26104486 G A SNP HIST1H4C ENST00000377803 human ensembl 70_37 +1 known silent c.311 p.*104 0.258 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 30 4 11.76 38 0 0.00 HIST1H4E 8367 genome.wustl.edu 37 6 26204984 26204984 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26204984 26204984 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.112 p.L38V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 123 15 10.87 197 0 0.00 HIST1H4E 8367 genome.wustl.edu 37 6 26205062 26205062 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 26205062 26205062 G A SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.190 p.E64K 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 78 19 19.59 87 0 0.00 HIST1H4E 8367 genome.wustl.edu 37 6 26205150 26205150 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 26205150 26205150 G C SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.278 p.R93T 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 68 48 41.38 52 0 0.00 HIST1H4E 8367 genome.wustl.edu 37 6 26205164 26205164 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 26205164 26205164 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.292 p.L98V 1.000 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 13 52 80.00 43 0 0.00 HIST1H4E 8367 genome.wustl.edu 37 6 26205164 26205164 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 26205164 26205164 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.292 p.L98V 1.000 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 8 56 87.50 35 0 0.00 HIST1H4F 8361 genome.wustl.edu 37 6 26240698 26240698 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 26240698 26240698 C T SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known silent c.45 p.G15 0.999 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 18 8 30.77 35 0 0.00 HIST1H4F 8361 genome.wustl.edu 37 6 26240726 26240726 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26240726 26240726 G C SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known missense c.73 p.D25H 1.000 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 29 21 42.00 33 0 0.00 HIST1H4F 8361 genome.wustl.edu 37 6 26240851 26240851 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 26240851 26240851 G C SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known silent c.198 p.V66 0.991 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 24 10 29.41 68 0 0.00 HIST1H4F 8361 genome.wustl.edu 37 6 26240864 26240864 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26240864 26240864 G A SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known missense c.211 p.V71I 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 87 31 26.27 99 0 0.00 HIST1H4G 8369 genome.wustl.edu 37 6 26247065 26247065 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 26247065 26247065 G A SNP HIST1H4G ENST00000244537 human ensembl 70_37 -1 known silent c.141 p.I47 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC ENSG00000124578 6 29 82.86 32 0 0.00 HIST1H4G 8369 genome.wustl.edu 37 6 26247124 26247124 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 26247124 26247124 G C SNP HIST1H4G ENST00000244537 human ensembl 70_37 -1 known missense c.82 p.Q28E 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC ENSG00000124578 22 13 37.14 30 0 0.00 HIST1H4I 8294 genome.wustl.edu 37 6 27107193 27107193 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 27107193 27107193 C T SNP HIST1H4I ENST00000354348 human ensembl 70_37 +1 known missense c.106 p.R36W 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC ENSG00000198339 28 26 48.15 39 0 0.00 HIST1H4K 8362 genome.wustl.edu 37 6 27798995 27798995 + Nonstop_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 27798995 27798995 C A SNP HIST1H4K ENST00000357549 human ensembl 70_37 -1 known nonstop c.311 p.*104L 0.004 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 43 8 15.69 76 0 0.00 HIST1H4K 8362 genome.wustl.edu 37 6 27798995 27798995 + Nonstop_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 27798995 27798995 C G SNP HIST1H4K ENST00000357549 human ensembl 70_37 -1 known nonstop c.311 p.*104S 0.004 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 53 9 14.52 64 0 0.00 HIST1H4L 8368 genome.wustl.edu 37 6 27841106 27841106 + Silent SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 6 27841106 27841106 C T SNP HIST1H4L ENST00000355981 human ensembl 70_37 -1 known silent c.183 p.V61 0.188 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 82 28 25.45 89 0 0.00 HIST2H2AB 317772 genome.wustl.edu 37 1 149859223 149859223 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 149859223 149859223 G A SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known missense c.244 p.R82C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 96 27 21.95 129 0 0.00 HIST2H2AB 317772 genome.wustl.edu 37 1 149859223 149859223 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 149859223 149859223 G C SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known missense c.244 p.R82G 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 193 29 13.00 158 1 0.62 HIST2H2AB 317772 genome.wustl.edu 37 1 149859407 149859407 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 149859407 149859407 G A SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known silent c.60 p.S20 0.975 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 72 28 28.00 71 0 0.00 HIST2H2AC 8338 genome.wustl.edu 37 1 149858613 149858613 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149858613 149858613 G C SNP HIST2H2AC ENST00000331380 human ensembl 70_37 +1 known missense c.89 p.R30P 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 43 35 44.87 75 0 0.00 HIST2H2AC 8338 genome.wustl.edu 37 1 149858613 149858613 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 149858613 149858613 G C SNP HIST2H2AC ENST00000331380 human ensembl 70_37 +1 known missense c.89 p.R30P 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 41 31 43.06 62 0 0.00 HIST2H2BE 8349 genome.wustl.edu 37 1 149857834 149857834 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 149857834 149857834 G A SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known silent c.357 p.V119 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 53 44 45.36 94 0 0.00 HIST2H2BE 8349 genome.wustl.edu 37 1 149857969 149857969 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 149857969 149857969 G A SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known silent c.222 p.I74 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 139 50 26.32 181 0 0.00 HIST2H2BE 8349 genome.wustl.edu 37 1 149857978 149857978 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 149857978 149857978 G C SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known missense c.213 p.F71L 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 137 48 25.95 145 0 0.00 HIST2H2BF 440689 genome.wustl.edu 37 1 149783771 149783771 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 149783771 149783771 C G SNP HIST2H2BF ENST00000427880 human ensembl 70_37 -1 known missense c.108 p.E36D 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 62 48 43.64 74 0 0.00 HIST2H2BF 440689 genome.wustl.edu 37 1 149783795 149783795 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 149783795 149783795 C G SNP HIST2H2BF ENST00000427880 human ensembl 70_37 -1 known missense c.84 p.K28N 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 58 55 48.67 72 0 0.00 HIST2H3D 653604 genome.wustl.edu 37 1 149784945 149784945 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 149784945 149784945 C T SNP HIST2H3D ENST00000331491 human ensembl 70_37 -1 known missense c.292 p.E98K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 93 151 61.63 81 0 0.00 HIST3H2A 92815 genome.wustl.edu 37 1 228645291 228645291 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 228645291 228645291 C G SNP HIST3H2A ENST00000366695 human ensembl 70_37 -1 known missense c.228 p.K76N 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC ENSG00000181218 78 26 25.00 62 0 0.00 HIST3H2A 92815 genome.wustl.edu 37 1 228645397 228645397 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228645397 228645397 G C SNP HIST3H2A ENST00000366695 human ensembl 70_37 -1 known missense c.122 p.S41W 0.403 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC ENSG00000181218 20 19 48.72 49 0 0.00 HIST3H2BB 128312 genome.wustl.edu 37 1 228646059 228646059 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 228646059 228646059 G A SNP HIST3H2BB ENST00000369160 human ensembl 70_37 +1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST3H2BB HGNC ENSG00000196890 138 55 28.50 243 1 0.41 HIST4H4 121504 genome.wustl.edu 37 12 14923746 14923746 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 14923746 14923746 C T SNP HIST4H4 ENST00000358064 human ensembl 70_37 -1 known silent c.273 p.L91 0.954 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 58 24 29.27 38 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12015869 12015869 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 12015869 12015869 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.8 p.R3Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 18 4 18.18 39 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12089440 12089440 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 12089440 12089440 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.64 p.E22Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 6 12 66.67 34 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12120152 12120152 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 12120152 12120152 T G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.124 p.S42A 0.875 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 10 4 28.57 23 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12120788 12120788 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 12120788 12120788 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.760 p.E254Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 39 5 11.36 41 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12121433 12121433 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 12121433 12121433 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.1405 p.D469N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 3 4 57.14 21 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12121870 12121870 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 12121870 12121870 C T SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.1842 p.S614 0.042 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 23 6 20.69 63 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12121938 12121938 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 12121938 12121938 C G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.1910 p.S637C 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 21 12 35.29 48 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12122774 12122774 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 12122774 12122774 G T SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known nonsense c.2746 p.G916* 0.159 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 24 3 11.11 36 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12123370 12123370 + Silent SNP A A G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 12123370 12123370 A G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.3342 p.Q1114 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 38 8 17.39 53 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12123569 12123570 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 12123569 12123570 - A INS HIVEP1 ENST00000379388 human ensembl 70_37 +1 known frame_shift_ins c.3541_3542 p.E1182fs 0.115:0.057 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 26 6 18.75 13 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12125327 12125327 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 12125327 12125327 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.5299 p.D1767H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 108 22 16.92 137 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12125377 12125377 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 12125377 12125377 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.5349 p.L1783F 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 140 69 33.01 86 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12164277 12164277 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 6 12164277 12164277 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.7740 p.E2580 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 17 10 37.04 19 0 0.00 HIVEP1 3096 genome.wustl.edu 37 6 12164662 12164662 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 12164662 12164662 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.8125 p.D2709N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 13 11 45.83 22 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143074250 143074250 + Silent SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 143074250 143074250 T C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.7335 p.L2445 0.978 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 25 15 37.50 25 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143074731 143074731 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 143074731 143074731 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6854 p.R2285Q 0.040 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 26 19 42.22 34 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143074955 143074955 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 143074955 143074955 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.6630 p.V2210 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 39 21 35.00 66 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143074975 143074975 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 143074975 143074975 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6610 p.E2204K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 56 19 25.33 71 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143074992 143074992 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 143074992 143074992 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6593 p.G2198D 0.967 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 23 13 36.11 36 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143081676 143081676 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 143081676 143081676 C G SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5749 p.D1917H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 140 71 33.49 139 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143081724 143081724 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 143081724 143081724 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5701 p.E1901K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 97 51 34.46 96 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143090691 143090691 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 143090691 143090691 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5185 p.Q1729E 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 44 24 35.29 33 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143091090 143091090 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 143091090 143091090 C A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known nonsense c.4786 p.E1596* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 26 8 23.53 21 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143091571 143091571 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 143091571 143091571 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.4305 p.L1435 0.074 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 28 11 28.21 37 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143091947 143091947 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 143091947 143091947 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.3929 p.S1310C 0.872 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 15 16 51.61 39 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143092438 143092438 + Silent SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 143092438 143092438 C A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.3438 p.L1146 0.067 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 9 22 70.97 29 0 0.00 HIVEP2 3097 genome.wustl.edu 37 6 143093707 143093707 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 143093707 143093707 G A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.2169 p.I723 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 71 28 28.28 78 0 0.00 HIVEP3 59269 genome.wustl.edu 37 1 42047016 42047016 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 42047016 42047016 G A SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known silent c.3453 p.L1151 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 53 16 23.19 45 0 0.00 HIVEP3 59269 genome.wustl.edu 37 1 42048469 42048469 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 42048469 42048469 G C SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known nonsense c.2000 p.S667* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 94 67 41.61 159 0 0.00 HIVEP3 59269 genome.wustl.edu 37 1 42049029 42049029 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 42049029 42049029 C G SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known missense c.1440 p.E480D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 12 7 36.84 22 0 0.00 HJURP 55355 genome.wustl.edu 37 2 234763116 234763116 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 234763116 234763116 C G SNP HJURP ENST00000411486 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 23 7 23.33 47 0 0.00 HK1 3098 genome.wustl.edu 37 10 71142457 71142457 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 71142457 71142457 G A SNP HK1 ENST00000448642 human ensembl 70_37 +1 known missense c.1585 p.E529K 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 54 31 36.47 56 0 0.00 HK1 3098 genome.wustl.edu 37 10 71158511 71158511 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 71158511 71158511 C T SNP HK1 ENST00000448642 human ensembl 70_37 +1 known missense c.2641 p.R881C 0.995 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 18 4 18.18 29 0 0.00 HK2 3099 genome.wustl.edu 37 2 75101407 75101407 + Missense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 75101407 75101407 G T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.706 p.A236S 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 29 16 35.56 49 0 0.00 HK2 3099 genome.wustl.edu 37 2 75107455 75107455 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 75107455 75107455 C T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known silent c.1329 p.L443 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 63 44 41.12 136 0 0.00 HK2 3099 genome.wustl.edu 37 2 75107555 75107555 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 75107555 75107555 C G SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.1429 p.L477V 0.733 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 87 40 31.50 120 1 0.83 HK2 3099 genome.wustl.edu 37 2 75108881 75108881 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 75108881 75108881 C A SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.1614 p.F538L 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 78 26 25.00 63 0 0.00 HK2 3099 genome.wustl.edu 37 2 75116397 75116397 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 75116397 75116397 C T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known nonsense c.2401 p.R801* 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 32 15 31.91 43 0 0.00 HK3 3101 genome.wustl.edu 37 5 176314515 176314515 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 176314515 176314515 G A SNP HK3 ENST00000292432 human ensembl 70_37 -1 known nonsense c.1537 p.R513* 0.039 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 38 9 19.15 49 0 0.00 HKDC1 80201 genome.wustl.edu 37 10 70992572 70992572 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70992572 70992572 G A SNP HKDC1 ENST00000354624 human ensembl 70_37 +1 known silent c.279 p.L93 0.992 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 91 23 20.18 181 0 0.00 HKDC1 80201 genome.wustl.edu 37 10 71007183 71007183 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 71007183 71007183 G A SNP HKDC1 ENST00000354624 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 27 20 42.55 71 0 0.00 HKDC1 80201 genome.wustl.edu 37 10 71021857 71021857 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 71021857 71021857 C T SNP HKDC1 ENST00000395086 human ensembl 70_37 +1 known missense c.2416 p.H806Y 0.027 NULL pfam_Hexokinase_N,pfam_Hexokinase_C,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 65 17 20.73 111 0 0.00 HKR1 284459 genome.wustl.edu 37 19 37853492 37853492 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 37853492 37853492 G A SNP HKR1 ENST00000324411 human ensembl 70_37 +1 known silent c.795 p.K265 0.092 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors HKR1 HGNC ENSG00000181666 10 10 50.00 26 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910398 29910398 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 29910398 29910398 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.68 p.W23* 0.091 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 34 44 55.70 122 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910553 29910556 + Frame_Shift_Del DEL TTTC TTTC - TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 29910553 29910556 TTTC - DEL HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_del c.93_96 p.F32fs 0.268:0.270:0.216:0.061 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 23 5 17.86 39 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910587 29910587 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29910587 29910587 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.127 p.E43* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 39 7 14.89 48 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910647 29910647 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29910647 29910647 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.187 p.D63H 0.899 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 144 57 28.36 113 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910744 29910744 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29910744 29910744 C G SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.284 p.S95* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 64 16 20.00 77 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910797 29910797 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 29910797 29910797 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.337 p.E113* 0.722 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 32 16 33.33 29 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29910797 29910797 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 29910797 29910797 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.337 p.E113* 0.722 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 29 6 17.14 60 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911302 29911302 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 29911302 29911302 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.975 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 9 86 90.53 42 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911302 29911302 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 29911302 29911302 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.975 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 36 8 18.18 28 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911898 29911898 + Splice_Site SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 29911898 29911898 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.620-1 e4-1 0.987 - - - no_errors HLA-A HGNC ENSG00000206503 184 85 31.48 220 1 0.45 HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 11 9 45.00 30 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 63 8 11.27 114 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 65 25 27.78 162 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29911919 29911919 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29911919 29911919 A C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.640 p.T214P 0.033 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 68 43 38.74 161 1 0.62 HLA-A 3105 genome.wustl.edu 37 6 29911954 29911954 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 29911954 29911954 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known silent c.675 p.L225 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 108 19 14.84 217 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29912108 29912108 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 29912108 29912108 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.829 p.E277Q 0.846 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 143 22 13.33 219 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29912276 29912276 + Splice_Site SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 29912276 29912276 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.896-1 e5-1 0.908 - - - no_errors HLA-A HGNC ENSG00000206503 249 48 16.16 294 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29912342 29912342 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 29912342 29912342 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.961 p.V321M 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 125 22 14.86 152 0 0.00 HLA-A 3105 genome.wustl.edu 37 6 29912835 29912835 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 29912835 29912835 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.1031-1 e6-1 0.013 - - - no_errors HLA-A HGNC ENSG00000206503 96 55 36.42 104 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 31323001 31323001 C G SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC ENSG00000234745 71 29 29.00 85 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31323001 31323001 C T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC ENSG00000234745 17 69 80.23 109 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 31323001 31323001 C T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC ENSG00000234745 35 16 31.37 84 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323127 31323127 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31323127 31323127 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.862 p.E288* 0.933 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 56 16 22.22 63 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323160 31323160 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31323160 31323160 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.829 p.E277* 0.991 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 54 14 20.59 73 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31323241 31323241 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31323241 31323241 G A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.748 p.Q250* 0.967 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 152 29 16.02 107 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324114 31324114 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 6 31324114 31324114 A T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.449 p.L150Q 0.998 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 46 14 23.33 20 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324477 31324477 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31324477 31324477 G A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.331 p.Q111* 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 20 24 54.55 16 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324496 31324496 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 31324496 31324496 G T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.312 p.N104K 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 17 5 22.73 17 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324496 31324496 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 31324496 31324496 G T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.312 p.N104K 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 13 3 18.75 14 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324681 31324681 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 31324681 31324681 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.127 p.E43* 0.989 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 36 9 20.00 74 0 0.00 HLA-B 3106 genome.wustl.edu 37 6 31324878 31324879 + Frame_Shift_Ins INS - - CA TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 31324878 31324879 - CA INS HLA-B ENST00000412585 human ensembl 70_37 -1 known frame_shift_ins c.58_57 p.T19fs 0.202:0.408 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 17 21 55.26 70 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31238207 31238207 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 31238207 31238207 C T SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known silent c.786 p.L262 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 76 38 33.33 86 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31238874 31238874 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31238874 31238874 C T SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.706 p.G236R 0.962 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 54 17 23.94 68 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31239015 31239015 + Nonsense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 31239015 31239015 C A SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known nonsense c.565 p.E189* 0.987 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 44 11 20.00 80 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31239049 31239050 + Frame_Shift_Ins INS - - C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 31239049 31239050 - C INS HLA-C ENST00000539307 human ensembl 70_37 -1 known frame_shift_ins c.531_530 p.A178fs 0.006:0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 29 9 23.68 43 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31239050 31239051 + Frame_Shift_Ins INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 31239050 31239051 - T INS HLA-C ENST00000539307 human ensembl 70_37 -1 known frame_shift_ins c.530_529 p.S177fs 0.000:0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 29 9 23.68 43 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31239093 31239093 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 31239093 31239093 C G SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.487 p.D163H 0.193 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 23 27 54.00 15 0 0.00 HLA-C 3107 genome.wustl.edu 37 6 31239773 31239773 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31239773 31239773 C G SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.76 p.E26Q 0.989 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 46 17 26.56 72 0 0.00 HLA-DMA 3108 genome.wustl.edu 37 6 32917053 32917053 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32917053 32917053 G C SNP HLA-DMA ENST00000374843 human ensembl 70_37 -1 known nonsense c.776 p.S259* 0.235 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMA HGNC ENSG00000204257 36 6 14.29 29 0 0.00 HLA-DMA 3108 genome.wustl.edu 37 6 32917176 32917176 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 32917176 32917176 A G SNP HLA-DMA ENST00000374843 human ensembl 70_37 -1 known missense c.653 p.V218A 1.000 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMA HGNC ENSG00000204257 42 10 19.23 45 0 0.00 HLA-DMB 3109 genome.wustl.edu 37 6 32905075 32905075 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 32905075 32905075 C A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.496 p.A166S 0.001 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 109 55 33.54 166 0 0.00 HLA-DMB 3109 genome.wustl.edu 37 6 32905075 32905075 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 32905075 32905075 C A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.496 p.A166S 0.001 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 20 17 45.95 35 0 0.00 HLA-DMB 3109 genome.wustl.edu 37 6 32905079 32905079 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 32905079 32905079 C G SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.492 p.K164N 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 139 42 23.20 223 0 0.00 HLA-DMB 3109 genome.wustl.edu 37 6 32906570 32906570 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32906570 32906570 G C SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known silent c.228 p.L76 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 73 18 19.78 62 0 0.00 HLA-DMB 3109 genome.wustl.edu 37 6 32906678 32906678 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 32906678 32906678 G A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known silent c.120 p.F40 0.515 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 50 13 20.63 40 0 0.00 HLA-DPB1 3115 genome.wustl.edu 37 6 33048260 33048260 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 33048260 33048260 G A SNP HLA-DPB1 ENST00000471184 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-DPB1 HGNC ENSG00000223865 60 20 25.00 57 0 0.00 HLA-DPB1 3115 genome.wustl.edu 37 6 33048688 33048689 + Frame_Shift_Ins INS - - A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 6 33048688 33048689 - A INS HLA-DPB1 ENST00000418931 human ensembl 70_37 +1 known frame_shift_ins c.340_341 p.G114fs 0.000:0.000 superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DPB1 HGNC ENSG00000223865 15 4 21.05 24 0 0.00 HLA-DPB1 3115 genome.wustl.edu 37 6 33048688 33048689 + Frame_Shift_Ins INS - - A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33048688 33048689 - A INS HLA-DPB1 ENST00000418931 human ensembl 70_37 +1 known frame_shift_ins c.340_341 p.G114fs 0.000:0.000 superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DPB1 HGNC ENSG00000223865 67 8 10.67 80 0 0.00 HLA-DPB1 3115 genome.wustl.edu 37 6 33054002 33054002 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33054002 33054002 G C SNP HLA-DPB1 ENST00000418931 human ensembl 70_37 +1 known missense c.764 p.R255P 0.000 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DPB1 HGNC ENSG00000223865 175 35 16.67 193 0 0.00 HLA-DPB2 3116 genome.wustl.edu 37 6 33086433 33086433 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 33086433 33086433 T C SNP HLA-DPB2 ENST00000435074 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors HLA-DPB2 HGNC ENSG00000224557 2 2 50.00 8 0 0.00 HLA-DQA1 3117 genome.wustl.edu 37 6 32606730 32606731 + Frame_Shift_Ins INS - - G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 32606730 32606731 - G INS HLA-DQA1 ENST00000482745 human ensembl 70_37 +1 known frame_shift_ins c.124_125 p.V43fs 0.000:0.000 NULL NULL - no_errors HLA-DQA1 HGNC ENSG00000196735 4 2 33.33 17 0 0.00 HLA-DQA1 3117 genome.wustl.edu 37 6 32609155 32609155 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32609155 32609155 G C SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known missense c.151 p.E51Q 0.980 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC ENSG00000196735 25 19 43.18 65 0 0.00 HLA-DQA1 3117 genome.wustl.edu 37 6 32609161 32609161 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32609161 32609161 G C SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known missense c.157 p.D53H 1.000 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC ENSG00000196735 27 14 34.15 32 0 0.00 HLA-DQA1 3117 genome.wustl.edu 37 6 32609786 32609786 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 32609786 32609786 G A SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known silent c.369 p.V123 0.587 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC ENSG00000196735 65 13 16.67 86 0 0.00 HLA-DQA2 3118 genome.wustl.edu 37 6 32713607 32713607 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 32713607 32713607 C T SNP HLA-DQA2 ENST00000374940 human ensembl 70_37 +1 known missense c.371 p.T124M 0.664 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC ENSG00000237541 79 35 30.70 123 0 0.00 HLA-DQA2 3118 genome.wustl.edu 37 6 32713837 32713837 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32713837 32713837 C T SNP HLA-DQA2 ENST00000374940 human ensembl 70_37 +1 known silent c.601 p.L201 0.477 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC ENSG00000237541 149 27 15.25 166 0 0.00 HLA-DQB1 3119 genome.wustl.edu 37 6 32629155 32629155 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 32629155 32629155 C A SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known silent c.741 p.L247 0.219 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB1 HGNC ENSG00000179344 16 4 20.00 19 0 0.00 HLA-DQB1 3119 genome.wustl.edu 37 6 32629764 32629764 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32629764 32629764 C T SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known missense c.641 p.S214N 0.989 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB1 HGNC ENSG00000179344 71 10 12.20 55 0 0.00 HLA-DQB1 3119 genome.wustl.edu 37 6 32629891 32629891 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32629891 32629891 C T SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known missense c.514 p.A172T 0.053 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB1 HGNC ENSG00000179344 49 8 14.04 37 0 0.00 HLA-DQB2 3120 genome.wustl.edu 37 6 32729509 32729509 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32729509 32729509 C G SNP HLA-DQB2 ENST00000435145 human ensembl 70_37 -1 known missense c.292 p.E98Q 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB2 HGNC ENSG00000232629 56 15 21.13 125 0 0.00 HLA-DRA 3122 genome.wustl.edu 37 6 32411228 32411228 + Missense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 32411228 32411228 C A SNP HLA-DRA ENST00000395388 human ensembl 70_37 +1 known missense c.595 p.L199I 0.075 pfam_Ig_C1-set pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRA HGNC ENSG00000204287 27 25 48.08 63 0 0.00 HLA-DRB1 3123 genome.wustl.edu 37 6 32549588 32549588 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 32549588 32549588 G A SNP HLA-DRB1 ENST00000360004 human ensembl 70_37 -1 known missense c.398 p.S133L 0.267 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 78 15 15.96 34 0 0.00 HLA-DRB5 3127 genome.wustl.edu 37 6 32487169 32487169 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32487169 32487169 C T SNP HLA-DRB5 ENST00000374975 human ensembl 70_37 -1 known silent c.630 p.T210 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 2 2 50.00 12 0 0.00 HLA-DRB5 3127 genome.wustl.edu 37 6 32487256 32487256 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 32487256 32487256 G A SNP HLA-DRB5 ENST00000374975 human ensembl 70_37 -1 known silent c.543 p.D181 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 1 2 66.67 12 0 0.00 HLA-DRB5 3127 genome.wustl.edu 37 6 32487265 32487265 + Missense_Mutation SNP C C G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 6 32487265 32487265 C G SNP HLA-DRB5 ENST00000374975 human ensembl 70_37 -1 known missense c.534 p.Q178H 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 16 5 23.81 20 0 0.00 HLA-DRB6 3128 genome.wustl.edu 37 6 32521160 32521160 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 32521160 32521160 C T SNP HLA-DRB6 ENST00000411500 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 34 4 10.53 36 0 0.00 HLA-DRB6 3128 genome.wustl.edu 37 6 32522591 32522591 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 32522591 32522591 C G SNP HLA-DRB6 ENST00000411500 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 55 7 11.29 95 0 0.00 HLA-E 3133 genome.wustl.edu 37 6 30458199 30458199 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30458199 30458199 G A SNP HLA-E ENST00000376630 human ensembl 70_37 +1 known missense c.517 p.E173K 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-E HGNC ENSG00000204592 40 26 39.39 35 0 0.00 HLA-E 3133 genome.wustl.edu 37 6 30459060 30459060 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 30459060 30459060 G A SNP HLA-E ENST00000376630 human ensembl 70_37 +1 known missense c.757 p.E253K 0.999 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-E HGNC ENSG00000204592 61 7 10.29 129 1 0.77 HLA-F 3134 genome.wustl.edu 37 6 29691562 29691562 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 29691562 29691562 G A SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known silent c.192 p.P64 0.046 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 43 25 36.76 74 0 0.00 HLA-F 3134 genome.wustl.edu 37 6 29691698 29691698 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 29691698 29691698 G A SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known missense c.328 p.E110K 0.933 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 9 7 43.75 11 0 0.00 HLA-F 3134 genome.wustl.edu 37 6 29692208 29692208 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29692208 29692208 A G SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known missense c.593 p.E198G 0.988 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 35 5 12.50 52 0 0.00 HLA-F 3134 genome.wustl.edu 37 6 29694151 29694151 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 29694151 29694151 G A SNP HLA-F ENST00000484704 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-F HGNC ENSG00000204642 40 15 27.27 74 0 0.00 HLA-F-AS1 285830 genome.wustl.edu 37 6 29716805 29716805 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29716805 29716805 G A SNP HLA-F-AS1 ENST00000399247 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors HLA-F-AS1 HGNC ENSG00000214922 30 16 34.78 42 0 0.00 HLA-G 3135 genome.wustl.edu 37 6 29796006 29796006 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 29796006 29796006 G C SNP HLA-G ENST00000376828 human ensembl 70_37 +1 known missense c.271 p.E91Q 0.000 pfam_MHC_I_a_a1/a2,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-G HGNC ENSG00000204632 84 13 13.40 102 0 0.00 HLA-G 3135 genome.wustl.edu 37 6 29796508 29796508 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 29796508 29796508 G A SNP HLA-G ENST00000376828 human ensembl 70_37 +1 known missense c.547 p.E183K 0.002 pfam_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-G HGNC ENSG00000204632 35 21 37.50 42 0 0.00 HLA-J 3137 genome.wustl.edu 37 6 29974424 29974424 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29974424 29974424 G A SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known rna NULL NULL 0.432 - - - no_errors HLA-J HGNC ENSG00000204622 18 7 28.00 58 0 0.00 HLA-J 3137 genome.wustl.edu 37 6 29974575 29974575 + Splice_Site SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 29974575 29974575 A G SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.061 - - - no_errors HLA-J HGNC ENSG00000204622 42 7 14.29 69 0 0.00 HLA-J 3137 genome.wustl.edu 37 6 29977350 29977350 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 29977350 29977350 T G SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-J HGNC ENSG00000204622 46 7 13.21 75 0 0.00 HLA-L 3139 genome.wustl.edu 37 6 30227572 30227572 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30227572 30227572 C G SNP HLA-L ENST00000482052 human ensembl 70_37 +1 known rna NULL NULL 0.062 - - - no_errors HLA-L HGNC ENSG00000243753 40 27 40.30 42 0 0.00 HLA-V 352962 genome.wustl.edu 37 6 29760373 29760373 + RNA SNP A A C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 29760373 29760373 A C SNP HLA-V ENST00000399243 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HLA-V HGNC ENSG00000181126 7 12 63.16 42 0 0.00 HLA-V 352962 genome.wustl.edu 37 6 29760646 29760646 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 29760646 29760646 C A SNP HLA-V ENST00000446817 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors HLA-V HGNC ENSG00000181126 31 4 11.11 44 0 0.00 HLA-V 352962 genome.wustl.edu 37 6 29761280 29761280 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 29761280 29761280 G T SNP HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors HLA-V HGNC ENSG00000181126 32 17 34.69 50 0 0.00 HLA-V 352962 genome.wustl.edu 37 6 29761307 29761307 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 29761307 29761307 A G SNP HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-V HGNC ENSG00000181126 43 5 10.42 29 0 0.00 HLA-V 352962 genome.wustl.edu 37 6 29764835 29764836 + RNA INS - - TT TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 29764835 29764836 - TT INS HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.150:0.174 - - - no_errors HLA-V HGNC ENSG00000181126 23 7 23.33 21 0 0.00 HLCS 3141 genome.wustl.edu 37 21 38128952 38128952 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 38128952 38128952 C T SNP HLCS ENST00000336648 human ensembl 70_37 -1 known missense c.1900 p.D634N 0.318 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 79 40 33.61 101 1 0.98 HLCS 3141 genome.wustl.edu 37 21 38129019 38129019 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 38129019 38129019 G C SNP HLCS ENST00000336648 human ensembl 70_37 -1 known missense c.1833 p.I611M 0.203 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 63 42 40.00 102 0 0.00 HLF 3131 genome.wustl.edu 37 17 53392589 53392589 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 53392589 53392589 T G SNP HLF ENST00000226067 human ensembl 70_37 +1 known silent c.453 p.G151 0.990 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 20 9 31.03 26 0 0.00 HLTF 6596 genome.wustl.edu 37 3 148756954 148756954 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 148756954 148756954 G C SNP HLTF ENST00000310053 human ensembl 70_37 -1 known nonsense c.2678 p.S893* 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 8 9 52.94 24 0 0.00 HLTF 6596 genome.wustl.edu 37 3 148778607 148778607 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 148778607 148778607 G C SNP HLTF ENST00000310053 human ensembl 70_37 -1 known nonsense c.1199 p.S400* 1.000 smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 83 11 11.70 56 0 0.00 HLX 3142 genome.wustl.edu 37 1 221053402 221053402 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 221053402 221053402 C T SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.203 p.S68L 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 2 5 71.43 12 0 0.00 HLX 3142 genome.wustl.edu 37 1 221053615 221053615 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 221053615 221053615 C T SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.416 p.P139L 0.048 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 27 17 38.64 45 0 0.00 HLX 3142 genome.wustl.edu 37 1 221055497 221055497 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 221055497 221055497 C T SNP HLX ENST00000549319 human ensembl 70_37 +1 putative missense c.122 p.S41F 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HLX HGNC ENSG00000136630 24 9 27.27 22 0 0.00 HLX 3142 genome.wustl.edu 37 1 221057537 221057537 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 221057537 221057537 G A SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.958 p.V320M 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 35 10 22.22 42 0 0.00 HM13 81502 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 70_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 28 12 30.00 24 0 0.00 HMBOX1 79618 genome.wustl.edu 37 8 28876293 28876293 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 28876293 28876293 G A SNP HMBOX1 ENST00000444075 human ensembl 70_37 +1 known missense c.714 p.M238I 1.000 superfamily_Lambda_DNA-bd_dom pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HMBOX1 HGNC ENSG00000147421 86 35 28.93 135 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185878636 185878636 + Frame_Shift_Del DEL T T - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 185878636 185878636 T - DEL HMCN1 ENST00000271588 human ensembl 70_37 +1 known frame_shift_del c.789 p.L264fs 0.968 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 17 2 10.53 65 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185880836 185880836 + Missense_Mutation SNP A A C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 185880836 185880836 A C SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.824 p.H275P 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 33 8 19.51 19 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185902924 185902924 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 185902924 185902924 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.1796 p.S599L 0.006 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 118 28 19.18 102 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185939558 185939558 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 185939558 185939558 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.2304 p.G768 0.888 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 21 11 34.38 63 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185950148 185950148 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 185950148 185950148 G T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.2605 p.A869S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 28 4 12.50 47 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185976331 185976331 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 185976331 185976331 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.4547 p.R1516Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 44 18 29.03 75 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185984542 185984542 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 185984542 185984542 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.4882 p.E1628K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 145 25 14.71 126 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 185987424 185987424 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 185987424 185987424 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.5410 p.R1804W 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 35 23 39.66 30 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186014982 186014982 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 186014982 186014982 G C SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.6467 p.R2156T 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 37 9 19.15 50 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186017887 186017887 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 186017887 186017887 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known nonsense c.6493 p.Q2165* 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 26 4 13.33 28 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186050401 186050401 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 186050401 186050401 A G SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.8662 p.K2888E 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 12 4 25.00 65 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186050494 186050494 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186050494 186050494 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.8755 p.H2919Y 0.746 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 44 15 25.42 46 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186057774 186057774 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 186057774 186057774 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.9614 p.G3205E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 28 36 56.25 42 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186062323 186062324 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 186062323 186062324 - A INS HMCN1 ENST00000271588 human ensembl 70_37 +1 known frame_shift_ins c.9945_9946 p.Y3316fs 0.992:1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 27 4 12.90 35 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186064492 186064492 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 186064492 186064492 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.10412 p.R3471K 0.964 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 62 16 20.51 16 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186113713 186113713 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 186113713 186113713 C A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known nonsense c.14144 p.S4715* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 36 4 10.00 38 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186141187 186141187 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 186141187 186141187 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.15738 p.K5246 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 45 19 29.69 56 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186141187 186141187 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 186141187 186141187 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.15738 p.K5246 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 38 6 13.64 57 0 0.00 HMCN1 83872 genome.wustl.edu 37 1 186157140 186157140 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 186157140 186157140 G T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.16540 p.G5514W 1.000 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 37 29 43.94 65 0 0.00 HMCN2 256158 genome.wustl.edu 37 9 133269206 133269206 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 133269206 133269206 G A SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMCN2 HGNC ENSG00000148357 33 10 23.26 41 0 0.00 HMCN2 256158 genome.wustl.edu 37 9 133270717 133270717 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133270717 133270717 G T SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMCN2 HGNC ENSG00000148357 9 12 57.14 48 0 0.00 HMCN2 256158 genome.wustl.edu 37 9 133271684 133271684 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 133271684 133271684 G A SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors HMCN2 HGNC ENSG00000148357 39 10 20.41 48 0 0.00 HMCN2 256158 genome.wustl.edu 37 9 133282080 133282080 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 133282080 133282080 C A SNP HMCN2 ENST00000480829 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HMCN2 HGNC ENSG00000148357 49 8 14.04 41 0 0.00 HMG20A 10363 genome.wustl.edu 37 15 77771569 77771569 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77771569 77771569 G C SNP HMG20A ENST00000336216 human ensembl 70_37 +1 known missense c.956 p.R319T 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMG20A HGNC ENSG00000140382 33 9 21.43 56 0 0.00 HMG20B 10362 genome.wustl.edu 37 19 3574375 3574375 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3574375 3574375 C T SNP HMG20B ENST00000435022 human ensembl 70_37 +1 known missense c.155 p.S52F 0.562 NULL NULL - no_errors HMG20B HGNC ENSG00000064961 25 18 41.86 54 0 0.00 HMG20B 10362 genome.wustl.edu 37 19 3576258 3576258 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3576258 3576258 G C SNP HMG20B ENST00000333651 human ensembl 70_37 +1 known splice_site c.473-1 e5-1 1.000 - - - no_errors HMG20B HGNC ENSG00000064961 76 15 16.48 103 0 0.00 HMGA1 3159 genome.wustl.edu 37 6 34208659 34208659 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 34208659 34208659 G A SNP HMGA1 ENST00000395004 human ensembl 70_37 +1 known silent c.102 p.P34 1.000 NULL prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC ENSG00000137309 61 46 42.99 153 1 0.65 HMGA1 3159 genome.wustl.edu 37 6 34210518 34210518 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 34210518 34210518 G C SNP HMGA1 ENST00000395004 human ensembl 70_37 +1 known missense c.165 p.K55N 1.000 prints_HMGI/HMGY,prints_AT_hook-like prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC ENSG00000137309 88 40 31.25 84 0 0.00 HMGB1 3146 genome.wustl.edu 37 13 31037403 31037403 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 31037403 31037403 G A SNP HMGB1 ENST00000339872 human ensembl 70_37 -1 known silent c.237 p.I79 0.934 superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB1 HGNC ENSG00000189403 34 6 15.00 38 0 0.00 HMGB1 3146 genome.wustl.edu 37 13 31037714 31037714 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 31037714 31037714 G A SNP HMGB1 ENST00000339872 human ensembl 70_37 -1 known missense c.104 p.S35L 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB1 HGNC ENSG00000189403 14 9 39.13 31 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22423477 22423477 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 22423477 22423477 G C SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 30 10 25.00 53 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22423655 22423655 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 22423655 22423655 G C SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 51 14 21.54 79 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22423690 22423690 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 22423690 22423690 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 16 14 46.67 44 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22423698 22423698 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 22423698 22423698 G A SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 29 13 30.95 55 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22424272 22424272 + RNA SNP T T C TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 22424272 22424272 T C SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors HMGB1P5 HGNC ENSG00000132967 17 3 15.00 32 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 29 4 12.12 38 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 17 3 15.00 34 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 19 3 13.64 25 0 0.00 HMGB1P5 10354 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 22 3 12.00 25 0 0.00 HMGB2 3148 genome.wustl.edu 37 4 174254097 174254097 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 174254097 174254097 C T SNP HMGB2 ENST00000296503 human ensembl 70_37 -1 known missense c.346 p.E116K 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB2 HGNC ENSG00000164104 35 27 43.55 53 0 0.00 HMGCL 3155 genome.wustl.edu 37 1 24137116 24137116 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 24137116 24137116 G C SNP HMGCL ENST00000465332 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGCL HGNC ENSG00000117305 10 15 60.00 14 0 0.00 HMGCLL1 54511 genome.wustl.edu 37 6 55443818 55443818 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 55443818 55443818 G A SNP HMGCLL1 ENST00000398661 human ensembl 70_37 -1 known silent c.36 p.L12 0.999 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 31 12 27.91 67 0 0.00 HMGCR 3156 genome.wustl.edu 37 5 74655364 74655364 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 74655364 74655364 C T SNP HMGCR ENST00000287936 human ensembl 70_37 +1 known nonsense c.2440 p.Q814* 1.000 pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 27 15 35.71 40 0 0.00 HMGCS1 3157 genome.wustl.edu 37 5 43294235 43294235 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 43294235 43294235 C G SNP HMGCS1 ENST00000325110 human ensembl 70_37 -1 known missense c.1106 p.R369T 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 43 18 29.51 48 0 0.00 HMGN1 3150 genome.wustl.edu 37 21 40719458 40719458 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 40719458 40719458 C T SNP HMGN1 ENST00000471260 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGN1 HGNC ENSG00000205581 23 8 25.81 32 0 0.00 HMGN1 3150 genome.wustl.edu 37 21 40720242 40720242 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 40720242 40720242 C A SNP HMGN1 ENST00000380749 human ensembl 70_37 -1 known silent c.102 p.A34 0.759 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN1 HGNC ENSG00000205581 32 16 33.33 50 0 0.00 HMGN2 3151 genome.wustl.edu 37 1 26801498 26801498 + RNA SNP T T C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 26801498 26801498 T C SNP HMGN2 ENST00000493418 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HMGN2 HGNC ENSG00000198830 36 4 10.00 35 0 0.00 HMGN2 3151 genome.wustl.edu 37 1 26801737 26801738 + RNA INS - - T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 26801737 26801738 - T INS HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 8 4 33.33 16 0 0.00 HMGN2 3151 genome.wustl.edu 37 1 26801752 26801752 + RNA SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 26801752 26801752 T A SNP HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 42 5 10.64 40 0 0.00 HMGN2 3151 genome.wustl.edu 37 1 26801753 26801753 + RNA SNP A A T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 26801753 26801753 A T SNP HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 36 6 14.29 52 0 0.00 HMGN5 79366 genome.wustl.edu 37 X 80370360 80370360 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 80370360 80370360 C T SNP HMGN5 ENST00000358130 human ensembl 70_37 -1 known missense c.637 p.D213N 0.007 NULL pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 62 19 23.46 53 0 0.00 HMGN5 79366 genome.wustl.edu 37 X 80377176 80377176 + RNA DEL A A - TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 80377176 80377176 A - DEL HMGN5 ENST00000491275 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 16 4 20.00 10 0 0.00 HMGXB3 22993 genome.wustl.edu 37 5 149404045 149404045 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 149404045 149404045 C G SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.1262 p.S421C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 55 18 24.66 60 0 0.00 HMGXB3 22993 genome.wustl.edu 37 5 149412102 149412102 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149412102 149412102 G A SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.1919 p.R640Q 0.997 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 28 20 41.67 54 0 0.00 HMGXB3 22993 genome.wustl.edu 37 5 149420366 149420366 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149420366 149420366 C T SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known silent c.2469 p.I823 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 83 23 21.70 47 0 0.00 HMGXB3 22993 genome.wustl.edu 37 5 149429857 149429857 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 5 149429857 149429857 C T SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.3244 p.R1082C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 37 5 11.90 57 0 0.00 HMGXB3 22993 genome.wustl.edu 37 5 149431695 149431695 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 149431695 149431695 G A SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known silent c.3819 p.Q1273 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 29 10 25.64 31 0 0.00 HMGXB4 10042 genome.wustl.edu 37 22 35659852 35659852 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 35659852 35659852 G A SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.244 p.D82N 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 41 37 46.84 84 0 0.00 HMGXB4 10042 genome.wustl.edu 37 22 35660934 35660934 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 35660934 35660934 C T SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.553 p.R185W 0.996 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 19 13 40.62 25 0 0.00 HMGXB4 10042 genome.wustl.edu 37 22 35660965 35660965 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 35660965 35660965 T G SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.584 p.I195S 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 12 4 25.00 16 0 0.00 HMHA1 23526 genome.wustl.edu 37 19 1073273 1073273 + Missense_Mutation SNP C C G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 1073273 1073273 C G SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known missense c.547 p.L183V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 15 9 37.50 22 0 0.00 HMHA1 23526 genome.wustl.edu 37 19 1080508 1080508 + Nonsense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 1080508 1080508 C G SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known nonsense c.1874 p.S625* 0.084 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 9 42 82.35 59 0 0.00 HMHA1 23526 genome.wustl.edu 37 19 1081908 1081908 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 1081908 1081908 C A SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known nonsense c.2465 p.S822* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 48 48 49.48 56 0 0.00 HMMR 3161 genome.wustl.edu 37 5 162900249 162900249 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 162900249 162900249 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known missense c.715 p.E239K 0.067 NULL NULL - no_errors HMMR HGNC ENSG00000072571 30 17 36.17 84 0 0.00 HMMR 3161 genome.wustl.edu 37 5 162902673 162902673 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 162902673 162902673 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known silent c.1263 p.L421 0.091 NULL NULL - no_errors HMMR HGNC ENSG00000072571 33 9 21.43 27 0 0.00 HMMR 3161 genome.wustl.edu 37 5 162909670 162909670 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 162909670 162909670 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known missense c.1408 p.E470K 0.881 NULL NULL - no_errors HMMR HGNC ENSG00000072571 22 5 18.52 23 0 0.00 HMMR 3161 genome.wustl.edu 37 5 162910273 162910273 + Splice_Site SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 162910273 162910273 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known splice_site c.1686-1 e15-1 1.000 - - - no_errors HMMR HGNC ENSG00000072571 33 12 26.67 36 0 0.00 HMOX1 3162 genome.wustl.edu 37 22 35782729 35782729 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 35782729 35782729 G C SNP HMOX1 ENST00000216117 human ensembl 70_37 +1 known missense c.196 p.E66Q 0.998 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 62 12 16.22 103 0 0.00 HMOX1 3162 genome.wustl.edu 37 22 35789553 35789553 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 35789553 35789553 C G SNP HMOX1 ENST00000216117 human ensembl 70_37 +1 known missense c.829 p.L277V 0.186 NULL pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 54 24 30.77 59 0 0.00 HMP19 51617 genome.wustl.edu 37 5 173491307 173491307 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 173491307 173491307 G A SNP HMP19 ENST00000303177 human ensembl 70_37 +1 known missense c.202 p.A68T 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors NSG2 Uniprot_genename ENSG00000170091 38 13 25.49 42 0 0.00 HMSD 284293 genome.wustl.edu 37 18 61627399 61627399 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 61627399 61627399 C T SNP HMSD ENST00000526932 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 0.972 NULL NULL - no_errors HMSD HGNC ENSG00000221887 51 34 40.00 118 0 0.00 HMX3 340784 genome.wustl.edu 37 10 124897036 124897036 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124897036 124897036 C T SNP HMX3 ENST00000357878 human ensembl 70_37 +1 known missense c.863 p.A288V 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 22 20 47.62 47 0 0.00 HN1 51155 genome.wustl.edu 37 17 73144629 73144629 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 73144629 73144629 G A SNP HN1 ENST00000356033 human ensembl 70_37 -1 known missense c.194 p.S65L 0.750 NULL NULL - no_errors HN1 HGNC ENSG00000189159 46 9 16.36 68 0 0.00 HN1 51155 genome.wustl.edu 37 17 73150528 73150528 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73150528 73150528 G C SNP HN1 ENST00000465454 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors HN1 HGNC ENSG00000189159 43 14 24.56 66 0 0.00 HN1L 90861 genome.wustl.edu 37 16 1741844 1741844 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 1741844 1741844 G A SNP HN1L ENST00000248098 human ensembl 70_37 +1 known missense c.194 p.G65E 0.999 NULL NULL - no_errors HN1L HGNC ENSG00000206053 58 17 22.67 85 0 0.00 HNF1A 6927 genome.wustl.edu 37 12 121438965 121438965 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 121438965 121438965 C T SNP HNF1A ENST00000257555 human ensembl 70_37 +1 known silent c.1866 p.I622 1.000 pfam_HNF1a_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC ENSG00000135100 32 7 17.95 73 0 0.00 HNF1B 6928 genome.wustl.edu 37 17 36059118 36059118 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 36059118 36059118 G T SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.1617 p.S539R 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 80 12 13.04 124 0 0.00 HNF1B 6928 genome.wustl.edu 37 17 36093702 36093702 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 36093702 36093702 G A SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known silent c.657 p.S219 1.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 30 20 40.00 76 0 0.00 HNF1B 6928 genome.wustl.edu 37 17 36099473 36099473 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 36099473 36099473 G C SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.502 p.L168V 1.000 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 32 44 57.89 114 0 0.00 HNF1B 6928 genome.wustl.edu 37 17 36104746 36104746 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 36104746 36104746 C G SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.130 p.E44Q 1.000 pfam_HNF-1_N pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 62 13 17.33 58 0 0.00 HNF4A 3172 genome.wustl.edu 37 20 43034754 43034754 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 43034754 43034754 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.172 p.A58T 0.922 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 183 35 15.84 154 0 0.00 HNF4A 3172 genome.wustl.edu 37 20 43034754 43034754 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 43034754 43034754 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.172 p.A58T 0.922 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 39 7 15.22 24 0 0.00 HNF4A 3172 genome.wustl.edu 37 20 43042336 43042336 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 20 43042336 43042336 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.388 p.V130I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 43 20 31.75 46 0 0.00 HNF4A 3172 genome.wustl.edu 37 20 43057043 43057043 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 43057043 43057043 A G SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.1198 p.T400A 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 12 4 25.00 41 0 0.00 HNRNPA0 10949 genome.wustl.edu 37 5 137089493 137089493 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 137089493 137089493 G A SNP HNRNPA0 ENST00000314940 human ensembl 70_37 -1 known missense c.263 p.S88L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 8 30 78.95 53 0 0.00 HNRNPA1 3178 genome.wustl.edu 37 12 54674604 54674604 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54674604 54674604 G A SNP HNRNPA1 ENST00000340913 human ensembl 70_37 +1 known missense c.13 p.E5K 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 8 14 34.15 50 0 0.00 HNRNPA1 3178 genome.wustl.edu 37 12 54674604 54674604 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54674604 54674604 G C SNP HNRNPA1 ENST00000340913 human ensembl 70_37 +1 known missense c.13 p.E5Q 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 8 19 46.34 50 0 0.00 HNRNPA1 3178 genome.wustl.edu 37 12 54680837 54680838 + RNA INS - - G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 54680837 54680838 - G INS HNRNPA1 ENST00000551803 human ensembl 70_37 +1 known rna NULL NULL 0.991:0.309 - - - no_errors HNRNPA1 HGNC ENSG00000135486 56 10 15.15 48 0 0.00 HNRNPA1L2 144983 genome.wustl.edu 37 13 53216872 53216872 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 53216872 53216872 G A SNP HNRNPA1L2 ENST00000342657 human ensembl 70_37 +1 known missense c.245 p.R82K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 54 6 10.00 92 0 0.00 HNRNPA1L2 144983 genome.wustl.edu 37 13 53217087 53217087 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 53217087 53217087 G C SNP HNRNPA1L2 ENST00000342657 human ensembl 70_37 +1 known missense c.460 p.D154H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 52 14 21.21 42 0 0.00 HNRNPA2B1 3181 genome.wustl.edu 37 7 26230678 26230678 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 26230678 26230678 C T SNP HNRNPA2B1 ENST00000476233 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPA2B1 HGNC ENSG00000122566 48 24 33.33 79 0 0.00 HNRNPA2B1 3181 genome.wustl.edu 37 7 26235495 26235495 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 26235495 26235495 G T SNP HNRNPA2B1 ENST00000354667 human ensembl 70_37 -1 known silent c.729 p.G243 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 34 4 10.53 62 0 0.00 HNRNPC 3183 genome.wustl.edu 37 14 21679390 21679390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21679390 21679390 C T SNP HNRNPC ENST00000320084 human ensembl 70_37 -1 known missense c.913 p.D305N 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 40 19 32.20 31 0 0.00 HNRNPCL1 343069 genome.wustl.edu 37 1 12907428 12907428 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 12907428 12907428 C T SNP HNRNPCL1 ENST00000317869 human ensembl 70_37 -1 known missense c.715 p.E239K 0.998 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 138 20 12.66 239 0 0.00 HNRNPCL1 343069 genome.wustl.edu 37 1 12907428 12907428 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 12907428 12907428 C T SNP HNRNPCL1 ENST00000317869 human ensembl 70_37 -1 known missense c.715 p.E239K 0.998 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 50 6 10.71 40 0 0.00 HNRNPH1 3187 genome.wustl.edu 37 5 179041949 179041949 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 179041949 179041949 C T SNP HNRNPH1 ENST00000329433 human ensembl 70_37 -1 putative missense c.1312 p.A438T 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 52 17 24.64 57 0 0.00 HNRNPH1 3187 genome.wustl.edu 37 5 179050119 179050119 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179050119 179050119 C T SNP HNRNPH1 ENST00000356731 human ensembl 70_37 -1 known missense c.16 p.E6K 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 23 33 58.93 92 0 0.00 HNRNPH2 3188 genome.wustl.edu 37 X 100667593 100667593 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 100667593 100667593 G A SNP HNRNPH2 ENST00000316594 human ensembl 70_37 +1 known missense c.617 p.R206Q 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 19 11 36.67 29 0 0.00 HNRNPH3 3189 genome.wustl.edu 37 10 70101490 70101491 + RNA INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 70101490 70101491 - T INS HNRNPH3 ENST00000478698 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 27 16 37.21 50 0 0.00 HNRNPK 3190 genome.wustl.edu 37 9 86585658 86585658 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 86585658 86585658 G A SNP HNRNPK ENST00000376263 human ensembl 70_37 -1 known silent c.1185 p.P395 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 68 32 32.00 70 0 0.00 HNRNPKP3 399881 genome.wustl.edu 37 11 43284422 43284422 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 43284422 43284422 G T SNP HNRNPKP3 ENST00000511537 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 9 8 47.06 22 0 0.00 HNRNPL 3191 genome.wustl.edu 37 19 39330948 39330948 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 39330948 39330948 C T SNP HNRNPL ENST00000221419 human ensembl 70_37 -1 known missense c.1021 p.E341K 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 22 5 17.86 11 0 0.00 HNRNPL 3191 genome.wustl.edu 37 19 39334736 39334736 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 39334736 39334736 G A SNP HNRNPL ENST00000221419 human ensembl 70_37 -1 known missense c.719 p.S240L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 28 36 56.25 26 0 0.00 HNRNPM 4670 genome.wustl.edu 37 19 8532465 8532465 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 8532465 8532465 G C SNP HNRNPM ENST00000325495 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 24 20 45.45 49 0 0.00 HNRNPM 4670 genome.wustl.edu 37 19 8553925 8553925 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 8553925 8553925 G A SNP HNRNPM ENST00000602219 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors HNRNPM HGNC ENSG00000099783 85 15 14.85 106 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23634678 23634678 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23634678 23634678 G A SNP HNRNPR ENST00000478691 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors HNRNPR HGNC ENSG00000125944 36 20 34.48 51 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23636896 23636896 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 23636896 23636896 G A SNP HNRNPR ENST00000476660 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 32 15 31.91 28 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23640111 23640111 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 23640111 23640111 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.1111 p.E371K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 42 18 30.00 46 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23640126 23640126 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 23640126 23640126 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 35 8 18.60 70 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23648042 23648042 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23648042 23648042 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.790 p.E264K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 24 20 45.45 31 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23650114 23650114 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23650114 23650114 G C SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.610 p.Q204E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 21 29 58.00 32 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23667363 23667363 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 23667363 23667363 C G SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.139 p.D47H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 21 27 56.25 65 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23670749 23670749 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 23670749 23670749 G C SNP HNRNPR ENST00000478691 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 11 6 35.29 14 0 0.00 HNRNPR 10236 genome.wustl.edu 37 1 23670749 23670749 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23670749 23670749 G C SNP HNRNPR ENST00000478691 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 9 7 43.75 18 0 0.00 HNRNPU 3192 genome.wustl.edu 37 1 245020903 245020903 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 245020903 245020903 C T SNP HNRNPU ENST00000283179 human ensembl 70_37 -1 known missense c.1611 p.M537I 1.000 pfam_Zeta_toxin_domain pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 31 9 22.50 37 0 0.00 HNRNPU 3192 genome.wustl.edu 37 1 245022598 245022598 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 245022598 245022598 T G SNP HNRNPU ENST00000283179 human ensembl 70_37 -1 known missense c.1096 p.T366P 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 26 9 25.71 74 0 0.00 HNRNPUL1 11100 genome.wustl.edu 37 19 41778084 41778084 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 41778084 41778084 G C SNP HNRNPUL1 ENST00000392006 human ensembl 70_37 +1 known missense c.516 p.K172N 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 35 16 31.37 42 0 0.00 HNRNPUL2 221092 genome.wustl.edu 37 11 62488794 62488794 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 62488794 62488794 C T SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known silent c.1584 p.R528 1.000 pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12 pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC ENSG00000214753 185 54 22.50 236 0 0.00 HNRNPUL2 221092 genome.wustl.edu 37 11 62489768 62489768 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 62489768 62489768 G A SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known silent c.1180 p.L394 0.957 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC ENSG00000214753 43 9 17.31 35 0 0.00 HNRNPUL2 221092 genome.wustl.edu 37 11 62491178 62491178 + Nonsense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 62491178 62491178 G A SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known nonsense c.772 p.Q258* 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC ENSG00000214753 39 10 20.41 93 0 0.00 HNRNPLL 92906 genome.wustl.edu 37 2 38800559 38800559 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 38800559 38800559 A G SNP HNRPLL ENST00000449105 human ensembl 70_37 -1 known silent c.885 p.G295 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRPLL HGNC ENSG00000143889 6 3 33.33 31 0 0.00 HOMER1 9456 genome.wustl.edu 37 5 78742913 78742913 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 78742913 78742913 G A SNP HOMER1 ENST00000334082 human ensembl 70_37 -1 known missense c.350 p.S117L 1.000 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER1 HGNC ENSG00000152413 25 20 44.44 64 0 0.00 HOMER2 9455 genome.wustl.edu 37 15 83533003 83533003 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 15 83533003 83533003 C G SNP HOMER2 ENST00000304231 human ensembl 70_37 -1 known missense c.303 p.E101D 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER2 HGNC ENSG00000103942 36 21 36.84 50 0 0.00 HOMER3 9454 genome.wustl.edu 37 19 19040315 19040315 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19040315 19040315 G C SNP HOMER3 ENST00000392351 human ensembl 70_37 -1 known silent c.1023 p.V341 0.963 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC ENSG00000051128 6 6 50.00 13 0 0.00 HOMER3 9454 genome.wustl.edu 37 19 19049681 19049681 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19049681 19049681 G C SNP HOMER3 ENST00000392351 human ensembl 70_37 -1 known missense c.27 p.I9M 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC ENSG00000051128 68 16 19.05 112 0 0.00 HOOK1 51361 genome.wustl.edu 37 1 60294516 60294516 + Silent SNP A A C TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 60294516 60294516 A C SNP HOOK1 ENST00000371208 human ensembl 70_37 +1 known silent c.214 p.R72 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 69 51 42.50 125 1 0.79 HOOK2 29911 genome.wustl.edu 37 19 12875631 12875631 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 12875631 12875631 G A SNP HOOK2 ENST00000397668 human ensembl 70_37 -1 known silent c.1824 p.R608 0.489 pfam_HOOK pfam_HOOK,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 32 11 25.58 31 0 0.00 HOOK3 84376 genome.wustl.edu 37 8 42780704 42780704 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 42780704 42780704 C A SNP HOOK3 ENST00000307602 human ensembl 70_37 +1 known missense c.148 p.P50T 1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 35 24 40.68 62 0 0.00 HOOK3 84376 genome.wustl.edu 37 8 42821733 42821733 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 42821733 42821733 G C SNP HOOK3 ENST00000307602 human ensembl 70_37 +1 known silent c.897 p.L299 0.084 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 32 4 11.11 42 0 0.00 HOPX 84525 genome.wustl.edu 37 4 57523943 57523943 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 57523943 57523943 C T SNP HOPX ENST00000554144 human ensembl 70_37 -1 known missense c.40 p.E14K 0.001 NULL superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 45 13 22.41 32 0 0.00 HORMAD1 84072 genome.wustl.edu 37 1 150671102 150671102 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 150671102 150671102 C T SNP HORMAD1 ENST00000470397 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors HORMAD1 HGNC ENSG00000143452 38 34 47.22 46 0 0.00 HORMAD1 84072 genome.wustl.edu 37 1 150671161 150671161 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150671161 150671161 C G SNP HORMAD1 ENST00000361824 human ensembl 70_37 -1 known missense c.1154 p.R385T 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 46 15 24.59 73 0 0.00 HORMAD1 84072 genome.wustl.edu 37 1 150671183 150671183 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150671183 150671183 G A SNP HORMAD1 ENST00000361824 human ensembl 70_37 -1 known nonsense c.1132 p.Q378* 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 102 23 18.40 87 0 0.00 HORMAD1 84072 genome.wustl.edu 37 1 150671335 150671335 + RNA SNP A A G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 150671335 150671335 A G SNP HORMAD1 ENST00000470397 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HORMAD1 HGNC ENSG00000143452 9 4 30.77 11 0 0.00 HORMAD2 150280 genome.wustl.edu 37 22 30517978 30517978 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 30517978 30517978 C T SNP HORMAD2 ENST00000336726 human ensembl 70_37 +1 known silent c.594 p.L198 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD2 HGNC ENSG00000176635 15 13 46.43 26 0 0.00 HOXA-AS3 100133311 genome.wustl.edu 37 7 27190721 27190721 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 27190721 27190721 G A SNP HOXA-AS3 ENST00000524304 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 26 25 48.08 36 0 0.00 HOXA-AS3 100133311 genome.wustl.edu 37 7 27194238 27194238 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 27194238 27194238 G A SNP HOXA-AS3 ENST00000518947 human ensembl 70_37 +1 known rna NULL NULL 0.571 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 31 19 37.25 55 0 0.00 HOXA-AS4 100874323 genome.wustl.edu 37 7 27211464 27211464 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 27211464 27211464 G C SNP HOXA-AS4 ENST00000519935 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors HOXA-AS4 HGNC ENSG00000253187 9 10 52.63 20 0 0.00 HOXA1 3198 genome.wustl.edu 37 7 27135385 27135385 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 27135385 27135385 G A SNP HOXA1 ENST00000343060 human ensembl 70_37 -1 known silent c.147 p.G49 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA1 HGNC ENSG00000105991 37 5 11.90 28 0 0.00 HOXA11 3207 genome.wustl.edu 37 7 27224337 27224337 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 27224337 27224337 A T SNP HOXA11 ENST00000006015 human ensembl 70_37 -1 known missense c.427 p.F143I 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA11 HGNC ENSG00000005073 17 13 43.33 59 0 0.00 HOXA2 3199 genome.wustl.edu 37 7 27140514 27140514 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 27140514 27140514 G C SNP HOXA2 ENST00000222718 human ensembl 70_37 -1 known missense c.962 p.S321C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 118 24 16.90 142 0 0.00 HOXA2 3199 genome.wustl.edu 37 7 27141772 27141772 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 27141772 27141772 G A SNP HOXA2 ENST00000222718 human ensembl 70_37 -1 known silent c.348 p.A116 0.943 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 21 23 52.27 32 0 0.00 HOXA3 3200 genome.wustl.edu 37 7 27147688 27147688 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 27147688 27147688 G A SNP HOXA3 ENST00000317201 human ensembl 70_37 -1 known missense c.1178 p.S393L 0.905 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 44 11 20.00 41 0 0.00 HOXA3 3200 genome.wustl.edu 37 7 27150136 27150136 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 27150136 27150136 C T SNP HOXA3 ENST00000317201 human ensembl 70_37 -1 known missense c.124 p.D42N 0.942 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 31 24 43.64 56 0 0.00 HOXA3 3200 genome.wustl.edu 37 7 27150230 27150230 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 27150230 27150230 C G SNP HOXA3 ENST00000317201 human ensembl 70_37 -1 known silent c.30 p.S10 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 85 17 16.67 71 0 0.00 HOXA4 3201 genome.wustl.edu 37 7 27169043 27169043 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 27169043 27169043 G A SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known missense c.764 p.S255F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 101 22 17.74 94 0 0.00 HOXA4 3201 genome.wustl.edu 37 7 27169068 27169068 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 7 27169068 27169068 C T SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known missense c.739 p.E247K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 88 29 24.79 123 0 0.00 HOXA4 3201 genome.wustl.edu 37 7 27169114 27169114 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 27169114 27169114 C T SNP HOXA4 ENST00000548581 human ensembl 70_37 -1 putative missense c.92 p.R31K 1.000 NULL NULL - no_errors HOXA4 HGNC ENSG00000197576 64 19 22.89 122 0 0.00 HOXA4 3201 genome.wustl.edu 37 7 27169123 27169123 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 27169123 27169123 C G SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known missense c.684 p.L228F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 61 17 21.79 113 0 0.00 HOXA4 3201 genome.wustl.edu 37 7 27170293 27170293 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 27170293 27170293 G A SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known silent c.60 p.F20 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 6 4 40.00 15 0 0.00 HOXA6 3203 genome.wustl.edu 37 7 27185519 27185519 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 27185519 27185519 G A SNP HOXA6 ENST00000222728 human ensembl 70_37 -1 known missense c.460 p.H154Y 1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 52 26 33.33 65 0 0.00 HOXA7 3204 genome.wustl.edu 37 7 27194714 27194714 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 27194714 27194714 G A SNP HOXA7 ENST00000242159 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 133 78 36.97 144 1 0.69 HOXA7 3204 genome.wustl.edu 37 7 27196076 27196076 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 27196076 27196076 G A SNP HOXA7 ENST00000242159 human ensembl 70_37 -1 known missense c.89 p.S30F 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 31 7 18.42 40 0 0.00 HOXB-AS5 360205 genome.wustl.edu 37 17 46801809 46801809 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 46801809 46801809 C T SNP HOXB-AS5 ENST00000422730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HOXB-AS5 HGNC ENSG00000229637 28 16 36.36 38 0 0.00 HOXB1 3211 genome.wustl.edu 37 17 46607954 46607954 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 46607954 46607954 C T SNP HOXB1 ENST00000239174 human ensembl 70_37 -1 known missense c.313 p.E105K 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 58 9 13.43 69 0 0.00 HOXB2 3212 genome.wustl.edu 37 17 46620387 46620387 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 46620387 46620387 C A SNP HOXB2 ENST00000504772 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HOXB2 HGNC ENSG00000173917 21 6 22.22 31 0 0.00 HOXB2 3212 genome.wustl.edu 37 17 46622224 46622224 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 46622224 46622224 G A SNP HOXB2 ENST00000330070 human ensembl 70_37 -1 known missense c.50 p.S17L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 42 24 36.36 110 0 0.00 HOXB2 3212 genome.wustl.edu 37 17 46622258 46622258 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 46622258 46622258 C A SNP HOXB2 ENST00000330070 human ensembl 70_37 -1 known nonsense c.16 p.E6* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 19 15 44.12 59 0 0.00 HOXB3 3213 genome.wustl.edu 37 17 46627737 46627737 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 46627737 46627737 G A SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known nonsense c.1255 p.Q419* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 59 30 33.71 96 0 0.00 HOXB3 3213 genome.wustl.edu 37 17 46628394 46628394 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46628394 46628394 G T SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known missense c.598 p.L200M 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 39 27 40.91 41 0 0.00 HOXB3 3213 genome.wustl.edu 37 17 46628395 46628395 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46628395 46628395 C T SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known silent c.597 p.Q199 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 39 27 40.91 41 0 0.00 HOXB4 3214 genome.wustl.edu 37 17 46654215 46654215 + Missense_Mutation SNP A A C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 46654215 46654215 A C SNP HOXB4 ENST00000332503 human ensembl 70_37 -1 known missense c.625 p.W209G 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 44 35 44.30 73 0 0.00 HOXB4 3214 genome.wustl.edu 37 17 46655232 46655232 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46655232 46655232 C T SNP HOXB4 ENST00000332503 human ensembl 70_37 -1 known silent c.450 p.V150 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 7 4 36.36 11 0 0.00 HOXB5 3215 genome.wustl.edu 37 17 46670955 46670955 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 46670955 46670955 C G SNP HOXB5 ENST00000239151 human ensembl 70_37 -1 known silent c.90 p.L30 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 22 17 43.59 48 0 0.00 HOXB6 3216 genome.wustl.edu 37 17 46674028 46674028 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 46674028 46674028 G A SNP HOXB6 ENST00000225648 human ensembl 70_37 -1 known missense c.422 p.S141F 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB6 HGNC ENSG00000108511 46 24 34.29 88 0 0.00 HOXB7 3217 genome.wustl.edu 37 17 46687942 46687942 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 46687942 46687942 C T SNP HOXB7 ENST00000239165 human ensembl 70_37 -1 known silent c.339 p.Q113 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000120087 63 8 11.27 55 0 0.00 HOXB9 3219 genome.wustl.edu 37 17 46703486 46703486 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 46703486 46703486 G A SNP HOXB9 ENST00000311177 human ensembl 70_37 -1 known missense c.146 p.S49L 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 22 9 29.03 23 0 0.00 HOXC10 3226 genome.wustl.edu 37 12 54379697 54379697 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 54379697 54379697 G T SNP HOXC10 ENST00000303460 human ensembl 70_37 +1 known missense c.654 p.Q218H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 216 112 34.15 155 0 0.00 HOXC10 3226 genome.wustl.edu 37 12 54383746 54383746 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 54383746 54383746 C T SNP HOXC10 ENST00000511575 human ensembl 70_37 +1 known rna NULL NULL 0.440 - - - no_errors HOXC10 HGNC ENSG00000180818 16 18 52.94 45 0 0.00 HOXC11 3227 genome.wustl.edu 37 12 54367370 54367370 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 54367370 54367370 G A SNP HOXC11 ENST00000546378 human ensembl 70_37 +1 known missense c.345 p.M115I 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC11 HGNC ENSG00000123388 12 5 29.41 16 0 0.00 HOXC11 3227 genome.wustl.edu 37 12 54369373 54369373 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 54369373 54369373 G A SNP HOXC11 ENST00000243082 human ensembl 70_37 +1 novel silent c.1095 p.L365 0.259 NULL pfam_DUF3528 - no_errors HOXC11 HGNC ENSG00000123388 41 8 16.33 47 0 0.00 HOXC12 3228 genome.wustl.edu 37 12 54348984 54348984 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 54348984 54348984 G A SNP HOXC12 ENST00000243103 human ensembl 70_37 +1 known missense c.271 p.G91S 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 4 4 50.00 41 0 0.00 HOXC12 3228 genome.wustl.edu 37 12 54350313 54350313 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 54350313 54350313 G C SNP HOXC12 ENST00000243103 human ensembl 70_37 +1 known missense c.812 p.R271T 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 46 13 22.03 48 0 0.00 HOXC13 3229 genome.wustl.edu 37 12 54333151 54333151 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 54333151 54333151 C T SNP HOXC13 ENST00000243056 human ensembl 70_37 +1 known missense c.461 p.P154L 1.000 pfam_HoxA13_N pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC ENSG00000123364 15 23 60.53 29 0 0.00 HOXC13 3229 genome.wustl.edu 37 12 54333242 54333242 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 54333242 54333242 G A SNP HOXC13 ENST00000243056 human ensembl 70_37 +1 known silent c.552 p.A184 0.995 NULL pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC ENSG00000123364 31 20 39.22 62 0 0.00 HOXC4 3221 genome.wustl.edu 37 12 54447709 54447709 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 54447709 54447709 G C SNP HOXC4 ENST00000303406 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC ENSG00000198353 70 38 35.19 134 0 0.00 HOXC4 3221 genome.wustl.edu 37 12 54447821 54447821 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 54447821 54447821 C T SNP HOXC4 ENST00000303406 human ensembl 70_37 +1 known missense c.115 p.R39W 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC ENSG00000198353 39 22 36.07 52 0 0.00 HOXC5 3222 genome.wustl.edu 37 12 54428118 54428118 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 54428118 54428118 G C SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.511 p.E171Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 57 32 35.96 64 0 0.00 HOXC5 3222 genome.wustl.edu 37 12 54428255 54428255 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 54428255 54428255 G A SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.648 p.M216I 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 30 4 11.76 54 0 0.00 HOXC5 3222 genome.wustl.edu 37 12 54428265 54428265 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 54428265 54428265 G C SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.658 p.E220Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 40 21 34.43 46 0 0.00 HOXC6 3223 genome.wustl.edu 37 12 54422601 54422601 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54422601 54422601 C G SNP HOXC6 ENST00000243108 human ensembl 70_37 +1 known nonsense c.296 p.S99* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 27 24 47.06 43 0 0.00 HOXC8 3224 genome.wustl.edu 37 12 54403491 54403491 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 54403491 54403491 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known nonsense c.423 p.W141* 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 23 5 17.86 29 0 0.00 HOXC8 3224 genome.wustl.edu 37 12 54404916 54404916 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54404916 54404916 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 33 4 10.81 36 0 0.00 HOXC8 3224 genome.wustl.edu 37 12 54405015 54405015 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 54405015 54405015 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known silent c.579 p.V193 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 44 20 30.77 45 0 0.00 HOXC9 3225 genome.wustl.edu 37 12 54396299 54396299 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 54396299 54396299 G A SNP HOXC9 ENST00000303450 human ensembl 70_37 +1 known silent c.624 p.E208 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 41 6 12.77 33 0 0.00 HOXD10 3236 genome.wustl.edu 37 2 176982109 176982109 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 176982109 176982109 G A SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.548 p.R183H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC ENSG00000128710 28 4 12.50 39 0 0.00 HOXD10 3236 genome.wustl.edu 37 2 176982180 176982180 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 176982180 176982180 G T SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.619 p.G207C 0.889 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC ENSG00000128710 44 7 13.73 69 0 0.00 HOXD10 3236 genome.wustl.edu 37 2 176982188 176982188 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 176982188 176982188 G C SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.627 p.E209D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC ENSG00000128710 54 8 12.90 50 0 0.00 HOXD11 3237 genome.wustl.edu 37 2 176972090 176972090 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 176972090 176972090 G A SNP HOXD11 ENST00000249504 human ensembl 70_37 +1 known missense c.7 p.D3N 1.000 NULL pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 19 13 40.62 37 0 0.00 HOXD12 3238 genome.wustl.edu 37 2 176965365 176965365 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 176965365 176965365 G A SNP HOXD12 ENST00000404162 human ensembl 70_37 +1 novel missense c.718 p.E240K 1.000 NULL NULL - no_errors HOXD12 HGNC ENSG00000170178 61 16 20.51 60 0 0.00 HOXD3 3232 genome.wustl.edu 37 2 177033965 177033965 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 177033965 177033965 C T SNP HOXD3 ENST00000249440 human ensembl 70_37 +1 known silent c.123 p.Y41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 42 19 30.65 69 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177016484 177016484 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 177016484 177016484 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.123 p.A41 0.073 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 23 10 30.30 39 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177016536 177016536 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 177016536 177016536 G C SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known missense c.175 p.E59Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 20 5 20.00 41 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177017452 177017452 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 177017452 177017452 C T SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known missense c.550 p.R184W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 28 17 37.78 39 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177017631 177017631 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 177017631 177017631 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.729 p.P243 0.269 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 26 34 56.67 31 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177017631 177017631 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 177017631 177017631 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.729 p.P243 0.269 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC ENSG00000170166 55 46 45.54 117 0 0.00 HOXD4 3233 genome.wustl.edu 37 2 177017826 177017826 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 177017826 177017826 G A SNP HOXD4 ENST00000465649 human ensembl 70_37 +1 known rna NULL NULL 0.903 - - - no_errors HOXD4 HGNC ENSG00000170166 27 8 22.86 54 0 0.00 HOXD9 3235 genome.wustl.edu 37 2 176988751 176988751 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 176988751 176988751 G C SNP HOXD9 ENST00000249499 human ensembl 70_37 +1 known missense c.907 p.E303Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 109 54 32.73 212 0 0.00 HP 3240 genome.wustl.edu 37 16 72090431 72090431 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 72090431 72090431 G A SNP HP ENST00000355906 human ensembl 70_37 +1 known missense c.91 p.D31N 0.998 pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 15 17 53.12 31 0 0.00 HP 3240 genome.wustl.edu 37 16 72090480 72090480 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 72090480 72090480 C T SNP HP ENST00000355906 human ensembl 70_37 +1 known missense c.140 p.S47L 0.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 23 15 39.47 26 0 0.00 HP09025 100652929 genome.wustl.edu 37 17 77681225 77681225 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 77681225 77681225 G C SNP HP09025 ENST00000397549 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene ENSG00000214105 70 60 46.15 106 0 0.00 HP09025 100652929 genome.wustl.edu 37 17 77683255 77683255 + RNA SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 77683255 77683255 A G SNP HP09025 ENST00000397549 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene ENSG00000214105 47 21 30.88 32 0 0.00 HP09025 100652929 genome.wustl.edu 37 17 77685232 77685232 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 77685232 77685232 G A SNP HP09025 ENST00000397549 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene ENSG00000214105 29 25 46.30 47 0 0.00 HP1BP3 50809 genome.wustl.edu 37 1 21083712 21083712 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 21083712 21083712 C G SNP HP1BP3 ENST00000312239 human ensembl 70_37 -1 known missense c.928 p.E310Q 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors HP1BP3 HGNC ENSG00000127483 45 11 19.64 32 0 0.00 HPCAL1 3241 genome.wustl.edu 37 2 10566867 10566867 + Missense_Mutation SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 10566867 10566867 G C SNP HPCAL1 ENST00000307845 human ensembl 70_37 +1 known missense c.502 p.E168Q 1.000 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 126 85 40.28 146 0 0.00 HPCAL1 3241 genome.wustl.edu 37 2 10566867 10566867 + Missense_Mutation SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 10566867 10566867 G C SNP HPCAL1 ENST00000307845 human ensembl 70_37 +1 known missense c.502 p.E168Q 1.000 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 35 22 38.60 32 0 0.00 HPCAL4 51440 genome.wustl.edu 37 1 40149662 40149662 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40149662 40149662 C T SNP HPCAL4 ENST00000372844 human ensembl 70_37 -1 known missense c.325 p.D109N 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 30 20 40.00 52 0 0.00 HPCAL4 51440 genome.wustl.edu 37 1 40149741 40149741 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 40149741 40149741 G A SNP HPCAL4 ENST00000372844 human ensembl 70_37 -1 known silent c.246 p.F82 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 46 12 20.69 55 0 0.00 HPD 3242 genome.wustl.edu 37 12 122277702 122277702 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 122277702 122277702 C G SNP HPD ENST00000289004 human ensembl 70_37 -1 known missense c.1114 p.E372Q 1.000 pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 42 16 27.59 50 0 0.00 HPD 3242 genome.wustl.edu 37 12 122294313 122294313 + Splice_Site SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122294313 122294313 C A SNP HPD ENST00000289004 human ensembl 70_37 -1 known splice_site c.242-1 e6-1 1.000 - - - no_errors HPD HGNC ENSG00000158104 54 36 40.00 70 0 0.00 HPGD 3248 genome.wustl.edu 37 4 175413139 175413139 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 175413139 175413139 C G SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.769 p.D257H 0.998 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 33 18 35.29 75 0 0.00 HPGD 3248 genome.wustl.edu 37 4 175414330 175414330 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414330 175414330 C A SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.634 p.D212Y 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 36 17 31.48 24 0 0.00 HPGD 3248 genome.wustl.edu 37 4 175414436 175414436 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414436 175414436 C T SNP HPGD ENST00000296522 human ensembl 70_37 -1 known silent c.528 p.V176 0.997 prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 37 8 17.78 28 0 0.00 HPGD 3248 genome.wustl.edu 37 4 175414436 175414436 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414436 175414436 C T SNP HPGD ENST00000296522 human ensembl 70_37 -1 known silent c.528 p.V176 0.997 prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 44 13 22.81 25 0 0.00 HPGD 3248 genome.wustl.edu 37 4 175439155 175439155 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 175439155 175439155 C A SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.291 p.E97D 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 14 19 57.58 38 0 0.00 HPGDS 27306 genome.wustl.edu 37 4 95223384 95223384 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 95223384 95223384 G A SNP HPGDS ENST00000295256 human ensembl 70_37 -1 known silent c.348 p.F116 0.387 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 179 59 24.79 268 0 0.00 HPGDS 27306 genome.wustl.edu 37 4 95255735 95255735 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 95255735 95255735 C T SNP HPGDS ENST00000295256 human ensembl 70_37 -1 known missense c.46 p.E16K 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 60 12 16.67 85 0 0.00 HPN 3249 genome.wustl.edu 37 19 35557160 35557160 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 35557160 35557160 C T SNP HPN ENST00000262626 human ensembl 70_37 +1 known missense c.1223 p.S408F 1.000 NULL pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 71 16 18.39 76 0 0.00 HPR 3250 genome.wustl.edu 37 16 72107831 72107831 + Missense_Mutation SNP C C A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 72107831 72107831 C A SNP HPR ENST00000228226 human ensembl 70_37 +1 known missense c.157 p.Q53K 0.917 pirsf_Haptoglobin pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC ENSG00000261701 129 94 42.15 165 0 0.00 HPR 3250 genome.wustl.edu 37 16 72110600 72110600 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 72110600 72110600 G A SNP HPR ENST00000228226 human ensembl 70_37 +1 known missense c.778 p.V260M 0.970 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC ENSG00000261701 33 10 23.26 65 0 0.00 HPR 3250 genome.wustl.edu 37 16 72110819 72110819 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 72110819 72110819 G A SNP HPR ENST00000228226 human ensembl 70_37 +1 known missense c.997 p.D333N 0.999 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC ENSG00000261701 108 23 17.56 111 0 0.00 HPRT1 3251 genome.wustl.edu 37 X 133609305 133609305 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 133609305 133609305 G A SNP HPRT1 ENST00000298556 human ensembl 70_37 +1 known missense c.229 p.D77N 1.000 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors HPRT1 HGNC ENSG00000165704 30 8 21.05 47 0 0.00 HPS1 3257 genome.wustl.edu 37 10 100177236 100177236 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 100177236 100177236 G C SNP HPS1 ENST00000467246 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HPS1 HGNC ENSG00000107521 7 14 66.67 31 0 0.00 HPS3 84343 genome.wustl.edu 37 3 148863259 148863259 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 148863259 148863259 G A SNP HPS3 ENST00000296051 human ensembl 70_37 +1 known silent c.1089 p.L363 0.017 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC ENSG00000163755 167 32 16.08 50 0 0.00 HPS3 84343 genome.wustl.edu 37 3 148880529 148880529 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 148880529 148880529 G T SNP HPS3 ENST00000296051 human ensembl 70_37 +1 known missense c.2345 p.W782L 1.000 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC ENSG00000163755 34 4 10.53 78 0 0.00 HPS4 89781 genome.wustl.edu 37 22 26860208 26860208 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 26860208 26860208 C T SNP HPS4 ENST00000398141 human ensembl 70_37 -1 known missense c.1427 p.R476K 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 29 5 14.71 27 0 0.00 HPS4 89781 genome.wustl.edu 37 22 26873059 26873059 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 26873059 26873059 C G SNP HPS4 ENST00000398141 human ensembl 70_37 -1 known missense c.161 p.G54A 0.999 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 43 14 24.56 50 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18303547 18303547 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18303547 18303547 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.3279 p.E1093D 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 20 15 42.86 41 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18306950 18306950 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18306950 18306950 T G SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2894 p.K965T 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 17 8 32.00 38 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18309092 18309092 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 18309092 18309092 C T SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2707 p.E903K 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 12 3 20.00 23 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18313229 18313229 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18313229 18313229 G A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2200 p.R734W 0.874 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 33 11 25.00 33 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18317559 18317559 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18317559 18317559 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.1621 p.A541S 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 23 5 17.86 52 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18319183 18319183 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 18319183 18319183 G C SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.1246 p.Q416E 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 11 17 60.71 52 0 0.00 HPS5 11234 genome.wustl.edu 37 11 18327893 18327893 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18327893 18327893 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known nonsense c.613 p.E205* 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 15 4 21.05 37 0 0.00 HPS6 79803 genome.wustl.edu 37 10 103826424 103826424 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 103826424 103826424 C T SNP HPS6 ENST00000299238 human ensembl 70_37 +1 known missense c.1193 p.S398L 0.008 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 24 11 31.43 41 0 0.00 HPS6 79803 genome.wustl.edu 37 10 103827104 103827104 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 103827104 103827104 G C SNP HPS6 ENST00000299238 human ensembl 70_37 +1 known missense c.1873 p.E625Q 1.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 29 18 38.30 38 0 0.00 HPSE2 60495 genome.wustl.edu 37 10 100249925 100249925 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 100249925 100249925 C T SNP HPSE2 ENST00000370552 human ensembl 70_37 -1 known missense c.1349 p.R450H 0.999 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 24 5 17.24 52 0 0.00 HPSE2 60495 genome.wustl.edu 37 10 100995386 100995386 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 100995386 100995386 C A SNP HPSE2 ENST00000370552 human ensembl 70_37 -1 known missense c.174 p.K58N 1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 12 9 42.86 47 0 0.00 HPX 3263 genome.wustl.edu 37 11 6452912 6452912 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 6452912 6452912 G A SNP HPX ENST00000265983 human ensembl 70_37 -1 known missense c.1088 p.A363V 1.000 superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 25 11 30.56 34 0 0.00 HRAS 3265 genome.wustl.edu 37 11 533515 533515 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 533515 533515 C T SNP HRAS ENST00000311189 human ensembl 70_37 -1 known missense c.388 p.A130T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors HRAS HGNC ENSG00000174775 15 24 61.54 79 0 0.00 HRAS 3265 genome.wustl.edu 37 11 534330 534330 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 534330 534330 C T SNP HRAS ENST00000468682 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors HRAS HGNC ENSG00000174775 20 19 48.72 32 0 0.00 HRASLS 57110 genome.wustl.edu 37 3 192980926 192980926 + Nonsense_Mutation SNP G G T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 192980926 192980926 G T SNP HRASLS ENST00000264735 human ensembl 70_37 +1 known nonsense c.307 p.E103* 1.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS HGNC ENSG00000127252 64 8 11.11 62 0 0.00 HRASLS5 117245 genome.wustl.edu 37 11 63258427 63258427 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63258427 63258427 G A SNP HRASLS5 ENST00000301790 human ensembl 70_37 -1 known missense c.80 p.S27L 0.002 NULL pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 39 18 31.58 31 0 0.00 HRC 3270 genome.wustl.edu 37 19 49656716 49656716 + Missense_Mutation SNP C C A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 19 49656716 49656716 C A SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1779 p.R593S 0.084 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 18 8 30.77 29 0 0.00 HRC 3270 genome.wustl.edu 37 19 49656892 49656892 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49656892 49656892 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1603 p.E535K 0.657 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 24 10 29.41 26 0 0.00 HRC 3270 genome.wustl.edu 37 19 49656988 49656988 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49656988 49656988 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1507 p.E503Q 0.125 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 25 24 48.00 58 0 0.00 HRC 3270 genome.wustl.edu 37 19 49657003 49657003 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 19 49657003 49657003 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1492 p.D498N 1.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 33 23 40.35 78 0 0.00 HRC 3270 genome.wustl.edu 37 19 49657150 49657150 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 19 49657150 49657150 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1345 p.E449Q 0.123 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 34 12 26.09 42 0 0.00 HRC 3270 genome.wustl.edu 37 19 49657295 49657295 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49657295 49657295 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1200 p.K400N 0.051 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 73 71 49.31 137 0 0.00 HRC 3270 genome.wustl.edu 37 19 49657432 49657432 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 49657432 49657432 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1063 p.E355K 0.950 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 137 31 18.45 162 0 0.00 HRC 3270 genome.wustl.edu 37 19 49658077 49658077 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49658077 49658077 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.418 p.E140K 0.342 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 73 66 47.48 95 0 0.00 HRG 3273 genome.wustl.edu 37 3 186395416 186395416 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 186395416 186395416 G A SNP HRG ENST00000232003 human ensembl 70_37 +1 known missense c.1322 p.R441Q 0.017 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 23 11 32.35 42 0 0.00 HRH1 3269 genome.wustl.edu 37 3 11301558 11301558 + Missense_Mutation SNP A A T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 11301558 11301558 A T SNP HRH1 ENST00000397056 human ensembl 70_37 +1 known missense c.835 p.T279S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH1 HGNC ENSG00000196639 20 9 31.03 34 0 0.00 HRH1 3269 genome.wustl.edu 37 3 11302022 11302022 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 11302022 11302022 C G SNP HRH1 ENST00000397056 human ensembl 70_37 +1 known missense c.1299 p.I433M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH1 HGNC ENSG00000196639 1 12 92.31 14 0 0.00 HRH2 3274 genome.wustl.edu 37 5 175111023 175111023 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 175111023 175111023 G A SNP HRH2 ENST00000377291 human ensembl 70_37 +1 known missense c.787 p.D263N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 132 43 24.57 162 0 0.00 HRH3 11255 genome.wustl.edu 37 20 60790436 60790436 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 60790436 60790436 C T SNP HRH3 ENST00000317393 human ensembl 70_37 -1 known silent c.1361 p.*454 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC ENSG00000101180 31 10 24.39 31 0 0.00 HRH3 11255 genome.wustl.edu 37 20 60791269 60791269 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 60791269 60791269 C G SNP HRH3 ENST00000317393 human ensembl 70_37 -1 known silent c.1131 p.L377 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC ENSG00000101180 54 17 23.94 83 0 0.00 HRH4 59340 genome.wustl.edu 37 18 22040735 22040735 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 18 22040735 22040735 C T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known missense c.43 p.R15C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HRH4 HGNC ENSG00000134489 40 8 16.67 67 0 0.00 HRH4 59340 genome.wustl.edu 37 18 22056721 22056721 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 22056721 22056721 G T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known missense c.368 p.R123I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HRH4 HGNC ENSG00000134489 26 4 13.33 43 0 0.00 HRH4 59340 genome.wustl.edu 37 18 22056884 22056884 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 22056884 22056884 C T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known silent c.531 p.I177 0.229 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HRH4 HGNC ENSG00000134489 32 14 30.43 51 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 44 14 24.14 46 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152186490 152186490 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152186490 152186490 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7615 p.G2539S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 12 6 33.33 10 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152186490 152186490 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 152186490 152186490 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7615 p.G2539S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 6 6 50.00 16 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 27 8 22.86 21 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152188560 152188560 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 152188560 152188560 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5545 p.G1849R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 252 39 13.40 176 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152188725 152188725 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152188725 152188725 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5380 p.D1794N 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 23 7 22.58 30 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152188861 152188861 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 152188861 152188861 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.5244 p.S1748 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 12 3 20.00 24 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152188861 152188861 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 152188861 152188861 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.5244 p.S1748 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 19 6 24.00 13 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152188964 152188964 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152188964 152188964 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5141 p.S1714N 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 65 17 20.73 41 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152189050 152189050 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 152189050 152189050 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.5055 p.S1685 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 71 8 10.13 48 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152189237 152189237 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 152189237 152189237 C G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.4868 p.S1623T 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 3 3 50.00 10 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152191898 152191898 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152191898 152191898 G A SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.2207 p.S736L 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 322 57 15.04 318 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152192700 152192700 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 152192700 152192700 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.1405 p.E469K 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 65 44 40.37 127 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152192729 152192729 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 152192729 152192729 G C SNP HRNR ENST00000368801 human ensembl 70_37 -1 known nonsense c.1376 p.S459* 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 101 55 35.26 115 0 0.00 HRNR 388697 genome.wustl.edu 37 1 152192981 152192981 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 152192981 152192981 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.1124 p.G375E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 77 47 37.90 78 0 0.00 HS1BP3 64342 genome.wustl.edu 37 2 20838179 20838179 + Nonstop_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 20838179 20838179 A G SNP HS1BP3 ENST00000402541 human ensembl 70_37 -1 putative nonstop c.640 p.*214R 0.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 11 5 31.25 33 0 0.00 HS2ST1 9653 genome.wustl.edu 37 1 87599320 87599320 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 87599320 87599320 C G SNP HS2ST1 ENST00000356813 human ensembl 70_37 +1 known missense c.790 p.H264D 0.001 NULL pfam_Sulfotransferase - no_errors HS2ST1 HGNC ENSG00000153936 78 12 13.33 55 0 0.00 HS3ST2 9956 genome.wustl.edu 37 16 22926815 22926815 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 22926815 22926815 C T SNP HS3ST2 ENST00000261374 human ensembl 70_37 +1 known nonsense c.1036 p.R346* 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST2 HGNC ENSG00000122254 18 7 28.00 27 0 0.00 HS3ST3A1 9955 genome.wustl.edu 37 17 13399936 13399936 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 13399936 13399936 C T SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known missense c.799 p.E267K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 65 23 26.14 55 0 0.00 HS3ST3A1 9955 genome.wustl.edu 37 17 13503859 13503859 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 13503859 13503859 G A SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 24 12 33.33 27 0 0.00 HS3ST3A1 9955 genome.wustl.edu 37 17 13503886 13503886 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 13503886 13503886 G A SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known silent c.561 p.F187 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 17 13 43.33 30 0 0.00 HS3ST3A1 9955 genome.wustl.edu 37 17 13504142 13504142 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 13504142 13504142 G T SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known missense c.305 p.P102H 0.001 NULL pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 14 5 26.32 11 0 0.00 HS3ST3B1 9953 genome.wustl.edu 37 17 14205134 14205134 + Nonsense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 14205134 14205134 C A SNP HS3ST3B1 ENST00000360954 human ensembl 70_37 +1 known nonsense c.299 p.S100* 0.007 NULL pfam_Sulfotransferase_dom - no_errors HS3ST3B1 HGNC ENSG00000125430 20 7 25.93 9 0 0.00 HS3ST5 222537 genome.wustl.edu 37 6 114378975 114378975 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 114378975 114378975 C G SNP HS3ST5 ENST00000312719 human ensembl 70_37 -1 known missense c.487 p.E163Q 0.998 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 43 24 35.82 73 0 0.00 HS6ST1 9394 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 70_37 -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 15 6 28.57 15 0 0.00 HS6ST2 90161 genome.wustl.edu 37 X 131762895 131762895 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 131762895 131762895 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.1294 p.R432C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 119 23 16.20 178 0 0.00 HS6ST2 90161 genome.wustl.edu 37 X 131762918 131762918 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 131762918 131762918 T C SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.1271 p.N424S 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 131 52 28.42 147 0 0.00 HS6ST2 90161 genome.wustl.edu 37 X 131842589 131842589 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 131842589 131842589 A C SNP HS6ST2 ENST00000406696 human ensembl 70_37 -1 known missense c.26 p.L9R 0.005 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 4 6 60.00 17 0 0.00 HS6ST2 90161 genome.wustl.edu 37 X 132090974 132090974 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 132090974 132090974 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.809 p.P270L 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 42 37 46.84 100 1 0.99 HS6ST2 90161 genome.wustl.edu 37 X 132091225 132091225 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 132091225 132091225 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known silent c.558 p.F186 0.999 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 67 22 24.44 51 0 0.00 HS6ST2 90161 genome.wustl.edu 37 X 132092453 132092453 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 132092453 132092453 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.178 p.H60Y 0.999 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 8 5 38.46 20 0 0.00 HSBP1 3281 genome.wustl.edu 37 16 83842329 83842329 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 83842329 83842329 G C SNP HSBP1 ENST00000433866 human ensembl 70_37 +1 known missense c.90 p.M30I 1.000 pfam_HS1-bd pfam_HS1-bd - no_errors HSBP1 HGNC ENSG00000230989 33 28 45.90 45 0 0.00 HSD11B2 3291 genome.wustl.edu 37 16 67469611 67469611 + Missense_Mutation SNP T T G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 67469611 67469611 T G SNP HSD11B2 ENST00000326152 human ensembl 70_37 +1 known missense c.346 p.L116V 0.003 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 27 8 22.86 43 0 0.00 HSD17B1 3292 genome.wustl.edu 37 17 40706695 40706695 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 40706695 40706695 C T SNP HSD17B1 ENST00000585807 human ensembl 70_37 +1 known silent c.726 p.L242 0.101 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 14 11 44.00 10 0 0.00 HSD17B10 3028 genome.wustl.edu 37 X 53459255 53459255 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 53459255 53459255 C A SNP HSD17B10 ENST00000168216 human ensembl 70_37 -1 known missense c.297 p.K99N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH - no_errors HSD17B10 HGNC ENSG00000072506 39 21 35.00 57 0 0.00 HSD17B11 51170 genome.wustl.edu 37 4 88258406 88258406 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88258406 88258406 C T SNP HSD17B11 ENST00000502576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HSD17B11 HGNC ENSG00000198189 35 12 25.53 46 0 0.00 HSD17B11 51170 genome.wustl.edu 37 4 88258413 88258413 + RNA SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 4 88258413 88258413 C T SNP HSD17B11 ENST00000502576 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors HSD17B11 HGNC ENSG00000198189 53 15 21.74 42 0 0.00 HSD17B11 51170 genome.wustl.edu 37 4 88295859 88295859 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 88295859 88295859 G A SNP HSD17B11 ENST00000358290 human ensembl 70_37 -1 known missense c.442 p.H148Y 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B11 HGNC ENSG00000198189 24 13 35.14 37 0 0.00 HSD17B11 51170 genome.wustl.edu 37 4 88312083 88312083 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 88312083 88312083 C G SNP HSD17B11 ENST00000358290 human ensembl 70_37 -1 known missense c.140 p.G47A 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B11 HGNC ENSG00000198189 133 31 18.90 181 0 0.00 HSD17B11 51170 genome.wustl.edu 37 4 88312251 88312252 + RNA INS - - T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 88312251 88312252 - T INS HSD17B11 ENST00000508413 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HSD17B11 HGNC ENSG00000198189 27 5 15.62 24 0 0.00 HSD17B12 51144 genome.wustl.edu 37 11 43694603 43694603 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 43694603 43694603 G A SNP HSD17B12 ENST00000526615 human ensembl 70_37 +1 known rna NULL NULL 0.933 - - - no_errors HSD17B12 HGNC ENSG00000149084 34 14 29.17 32 0 0.00 HSD17B12 51144 genome.wustl.edu 37 11 43702327 43702327 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 43702327 43702327 C G SNP HSD17B12 ENST00000527433 human ensembl 70_37 +1 putative rna NULL NULL 0.933 - - - no_errors HSD17B12 HGNC ENSG00000149084 55 16 22.54 62 0 0.00 HSD17B12 51144 genome.wustl.edu 37 11 43775659 43775659 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 43775659 43775659 T G SNP HSD17B12 ENST00000278353 human ensembl 70_37 +1 known missense c.271 p.S91A 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 22 10 31.25 48 0 0.00 HSD17B13 345275 genome.wustl.edu 37 4 88231402 88231402 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88231402 88231402 G A SNP HSD17B13 ENST00000328546 human ensembl 70_37 -1 known silent c.805 p.L269 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 83 24 22.43 58 0 0.00 HSD17B13 345275 genome.wustl.edu 37 4 88235080 88235080 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88235080 88235080 C T SNP HSD17B13 ENST00000328546 human ensembl 70_37 -1 known missense c.590 p.R197K 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 19 9 32.14 53 0 0.00 HSD17B14 51171 genome.wustl.edu 37 19 49316448 49316448 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49316448 49316448 G C SNP HSD17B14 ENST00000263278 human ensembl 70_37 -1 known missense c.797 p.P266R 0.777 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 18 9 33.33 18 0 0.00 HSD17B14 51171 genome.wustl.edu 37 19 49339660 49339660 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49339660 49339660 C T SNP HSD17B14 ENST00000263278 human ensembl 70_37 -1 known silent c.9 p.T3 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 68 9 11.69 90 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118788278 118788278 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118788278 118788278 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.8 p.S3L 0.006 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 49 39 44.32 40 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118811536 118811536 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 118811536 118811536 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.320 p.S107F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 157 92 36.80 252 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118813176 118813176 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 118813176 118813176 G A SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.414 p.M138I 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 26 15 35.71 64 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118814621 118814621 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 118814621 118814621 A C SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.527 p.N176T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 28 16 36.36 70 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118824910 118824910 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 118824910 118824910 G C SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.646 p.E216Q 0.995 prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 136 45 24.86 162 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118832280 118832280 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 118832280 118832280 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.911 p.S304L 0.921 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 49 15 23.44 52 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118835193 118835193 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 118835193 118835193 C G SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1154 p.S385C 0.008 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 15 11 42.31 23 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118844836 118844836 + Missense_Mutation SNP T T C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 118844836 118844836 T C SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1334 p.V445A 1.000 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 22 6 21.43 35 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118844859 118844859 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 118844859 118844859 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1357 p.L453F 0.996 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 115 21 15.44 89 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118844859 118844859 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 118844859 118844859 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1357 p.L453F 0.996 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 70 15 17.65 45 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118866973 118866973 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 118866973 118866973 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 superfamily_SCP2_sterol-bd_dom pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 35 25 41.67 42 0 0.00 HSD17B4 3295 genome.wustl.edu 37 5 118866973 118866973 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 118866973 118866973 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 superfamily_SCP2_sterol-bd_dom pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 92 38 29.23 167 0 0.00 HSD17B6 8630 genome.wustl.edu 37 12 57167790 57167790 + Nonsense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 57167790 57167790 C T SNP HSD17B6 ENST00000322165 human ensembl 70_37 +1 known nonsense c.154 p.R52* 0.198 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 31 4 11.43 58 0 0.00 HSD17B6 8630 genome.wustl.edu 37 12 57178733 57178733 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57178733 57178733 G C SNP HSD17B6 ENST00000322165 human ensembl 70_37 +1 known missense c.669 p.M223I 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 45 36 43.90 53 0 0.00 HSD17B7 51478 genome.wustl.edu 37 1 162766467 162766467 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 162766467 162766467 G T SNP HSD17B7 ENST00000254521 human ensembl 70_37 +1 known missense c.332 p.R111I 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 54 73 57.48 80 0 0.00 HSD17B7 51478 genome.wustl.edu 37 1 162773227 162773227 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 162773227 162773227 T G SNP HSD17B7 ENST00000254521 human ensembl 70_37 +1 known missense c.649 p.Y217D 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 74 47 38.84 86 0 0.00 HSD17B8 7923 genome.wustl.edu 37 6 33173928 33173928 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33173928 33173928 G A SNP HSD17B8 ENST00000374662 human ensembl 70_37 +1 known silent c.669 p.P223 0.365 prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH,prints_ADH_insect - no_errors HSD17B8 HGNC ENSG00000204228 20 16 44.44 35 0 0.00 HSD3B1 3283 genome.wustl.edu 37 1 120056474 120056474 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 120056474 120056474 G C SNP HSD3B1 ENST00000235547 human ensembl 70_37 +1 known missense c.334 p.E112Q 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 23 21 47.73 49 0 0.00 HSD3B1 3283 genome.wustl.edu 37 1 120056573 120056573 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 120056573 120056573 G T SNP HSD3B1 ENST00000235547 human ensembl 70_37 +1 known nonsense c.433 p.E145* 0.996 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 37 27 42.19 55 0 0.00 HSD3B2 3284 genome.wustl.edu 37 1 119964551 119964551 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 119964551 119964551 G C SNP HSD3B2 ENST00000369416 human ensembl 70_37 +1 known missense c.427 p.E143Q 0.998 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 59 13 18.06 46 0 0.00 HSD3B2 3284 genome.wustl.edu 37 1 119964793 119964793 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 119964793 119964793 C G SNP HSD3B2 ENST00000369416 human ensembl 70_37 +1 known silent c.669 p.V223 0.735 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 48 29 37.66 63 0 0.00 HSD3B7 80270 genome.wustl.edu 37 16 30998216 30998216 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30998216 30998216 G A SNP HSD3B7 ENST00000297679 human ensembl 70_37 +1 known missense c.587 p.G196D 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 14 9 39.13 31 0 0.00 HSD3B7 80270 genome.wustl.edu 37 16 30999441 30999441 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30999441 30999441 G A SNP HSD3B7 ENST00000297679 human ensembl 70_37 +1 known silent c.1047 p.S349 0.851 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 56 19 25.33 88 0 0.00 HSDL2 84263 genome.wustl.edu 37 9 115181148 115181148 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 115181148 115181148 A T SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.508 p.I170F 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 19 11 36.67 41 0 0.00 HSDL2 84263 genome.wustl.edu 37 9 115221855 115221855 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 115221855 115221855 C T SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.1142 p.S381L 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 111 53 32.32 128 0 0.00 HSDL2 84263 genome.wustl.edu 37 9 115232804 115232804 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 115232804 115232804 C G SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.1237 p.Q413E 0.999 superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 24 3 11.11 33 0 0.00 HSF1 3297 genome.wustl.edu 37 8 145515503 145515503 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 145515503 145515503 C T SNP HSF1 ENST00000528838 human ensembl 70_37 +1 known silent c.64 p.L22 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 30 4 11.76 27 0 0.00 HSF1 3297 genome.wustl.edu 37 8 145535024 145535024 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145535024 145535024 C G SNP HSF1 ENST00000528838 human ensembl 70_37 +1 known missense c.582 p.I194M 0.998 NULL pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 136 41 23.16 71 0 0.00 HSF2 3298 genome.wustl.edu 37 6 122743932 122743932 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 122743932 122743932 G A SNP HSF2 ENST00000368455 human ensembl 70_37 +1 known silent c.900 p.Q300 1.000 pfam_Vert_HS_TF pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 113 45 28.48 101 0 0.00 HSF2BP 11077 genome.wustl.edu 37 21 45012110 45012110 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 45012110 45012110 C T SNP HSF2BP ENST00000291560 human ensembl 70_37 -1 known silent c.792 p.L264 0.977 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 66 12 15.19 70 0 0.00 HSF4 3299 genome.wustl.edu 37 16 67200473 67200473 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67200473 67200473 C T SNP HSF4 ENST00000264009 human ensembl 70_37 +1 known missense c.574 p.L192F 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 87 21 19.44 96 0 0.00 HSF4 3299 genome.wustl.edu 37 16 67200499 67200499 + Nonsense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 67200499 67200499 G T SNP HSF4 ENST00000522295 human ensembl 70_37 +1 known nonsense c.541 p.E181* 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 36 4 10.00 17 0 0.00 HSF4 3299 genome.wustl.edu 37 16 67201667 67201667 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67201667 67201667 G A SNP HSF4 ENST00000264009 human ensembl 70_37 +1 known missense c.899 p.G300E 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 30 33 52.38 64 0 0.00 HSF5 124535 genome.wustl.edu 37 17 56540518 56540518 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 17 56540518 56540518 C T SNP HSF5 ENST00000323777 human ensembl 70_37 -1 known silent c.1167 p.E389 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 80 41 33.61 127 0 0.00 HSF5 124535 genome.wustl.edu 37 17 56565423 56565423 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 56565423 56565423 G A SNP HSF5 ENST00000323777 human ensembl 70_37 -1 known silent c.213 p.L71 0.986 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 6 4 40.00 10 0 0.00 HSH2D 84941 genome.wustl.edu 37 19 16263369 16263369 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16263369 16263369 G A SNP HSH2D ENST00000253680 human ensembl 70_37 +1 known missense c.133 p.E45K 0.210 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors HSH2D HGNC ENSG00000196684 23 18 43.90 37 0 0.00 HSH2D 84941 genome.wustl.edu 37 19 16263980 16263980 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16263980 16263980 G C SNP HSH2D ENST00000253680 human ensembl 70_37 +1 known missense c.343 p.E115Q 0.000 smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors HSH2D HGNC ENSG00000196684 15 11 42.31 25 0 0.00 HSP90AA1 3320 genome.wustl.edu 37 14 102548615 102548615 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 102548615 102548615 G C SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.2288 p.S763C 1.000 pirsf_Hsp90,pfam_Hsp90 pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 11 65 85.53 129 0 0.00 HSP90AA1 3320 genome.wustl.edu 37 14 102552169 102552169 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 102552169 102552169 G A SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.821 p.T274I 1.000 pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 90 66 42.31 61 0 0.00 HSP90AA1 3320 genome.wustl.edu 37 14 102552357 102552357 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 102552357 102552357 G A SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known silent c.633 p.L211 0.984 pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 81 50 38.17 134 0 0.00 HSP90AA1 3320 genome.wustl.edu 37 14 102552664 102552664 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 102552664 102552664 C T SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.418 p.E140K 1.000 pirsf_Hsp90,superfamily_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 27 7 20.59 29 0 0.00 HSP90AA4P 3323 genome.wustl.edu 37 4 190395739 190395739 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 190395739 190395739 G C SNP HSP90AA4P ENST00000378770 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 44 16 26.23 64 0 0.00 HSP90AA6P 441051 genome.wustl.edu 37 4 171502653 171502653 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 171502653 171502653 G A SNP HSP90AA6P ENST00000325407 human ensembl 70_37 -1 known rna NULL NULL 0.143 - - - no_errors HSP90AA6P HGNC ENSG00000181359 16 15 48.39 40 0 0.00 HSP90AA6P 441051 genome.wustl.edu 37 4 171526097 171526097 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 171526097 171526097 C A SNP HSP90AA6P ENST00000325407 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HSP90AA6P HGNC ENSG00000181359 22 7 24.14 67 0 0.00 HSP90AB1 3326 genome.wustl.edu 37 6 44216453 44216453 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 44216453 44216453 C G SNP HSP90AB1 ENST00000353801 human ensembl 70_37 +1 known missense c.87 p.I29M 1.000 superfamily_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 59 23 28.05 111 0 0.00 HSP90AB1 3326 genome.wustl.edu 37 6 44218333 44218333 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 44218333 44218333 C T SNP HSP90AB1 ENST00000353801 human ensembl 70_37 +1 known silent c.954 p.V318 1.000 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 68 15 18.07 82 0 0.00 HSP90B1 7184 genome.wustl.edu 37 12 104324296 104324296 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 104324296 104324296 G A SNP HSP90B1 ENST00000299767 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 54 24 30.77 84 0 0.00 HSPA12A 259217 genome.wustl.edu 37 10 118434523 118434523 + Silent SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 118434523 118434523 G T SNP HSPA12A ENST00000369209 human ensembl 70_37 -1 known silent c.1797 p.V599 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 16 9 36.00 43 0 0.00 HSPA12A 259217 genome.wustl.edu 37 10 118434551 118434551 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 118434551 118434551 G A SNP HSPA12A ENST00000369209 human ensembl 70_37 -1 known missense c.1769 p.P590L 0.996 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 18 9 33.33 30 0 0.00 HSPA12B 116835 genome.wustl.edu 37 20 3723036 3723036 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 3723036 3723036 G A SNP HSPA12B ENST00000254963 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 19 17 47.22 61 0 0.00 HSPA12B 116835 genome.wustl.edu 37 20 3728949 3728949 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 3728949 3728949 G A SNP HSPA12B ENST00000254963 human ensembl 70_37 +1 known missense c.761 p.R254H 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 111 14 11.20 109 0 0.00 HSPA13 6782 genome.wustl.edu 37 21 15746110 15746110 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 15746110 15746110 C T SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.1244 p.R415H 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 44 9 16.98 60 0 0.00 HSPA13 6782 genome.wustl.edu 37 21 15746528 15746528 + Missense_Mutation SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 21 15746528 15746528 C A SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.826 p.G276C 0.998 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 22 4 15.38 61 0 0.00 HSPA13 6782 genome.wustl.edu 37 21 15755429 15755429 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 15755429 15755429 C A SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.12 p.E4D 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 15 6 28.57 40 0 0.00 HSPA14 51182 genome.wustl.edu 37 10 14885843 14885843 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 14885843 14885843 C T SNP HSPA14 ENST00000309584 human ensembl 70_37 +1 known silent c.769 p.L257 1.000 NULL NULL - no_errors HSPA14 HGNC ENSG00000187522 28 4 12.50 40 0 0.00 HSPA14 51182 genome.wustl.edu 37 10 14886054 14886054 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 14886054 14886054 G T SNP HSPA14 ENST00000494337 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HSPA14 HGNC ENSG00000187522 29 5 14.71 44 0 0.00 HSPA1A 3303 genome.wustl.edu 37 6 31783743 31783743 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31783743 31783743 G A SNP HSPA1A ENST00000375651 human ensembl 70_37 +1 known silent c.210 p.A70 0.987 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 8 6 42.86 18 0 0.00 HSPA1B 3304 genome.wustl.edu 37 6 31795748 31795748 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 31795748 31795748 C G SNP HSPA1B ENST00000375650 human ensembl 70_37 +1 known missense c.21 p.I7M 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 62 17 21.52 107 0 0.00 HSPA1B 3304 genome.wustl.edu 37 6 31797431 31797431 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31797431 31797431 G C SNP HSPA1B ENST00000375650 human ensembl 70_37 +1 known missense c.1704 p.K568N 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 44 21 32.31 49 0 0.00 HSPA1L 3305 genome.wustl.edu 37 6 31778159 31778159 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31778159 31778159 C G SNP HSPA1L ENST00000375654 human ensembl 70_37 -1 known missense c.1591 p.D531H 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 33 10 23.26 51 0 0.00 HSPA1L 3305 genome.wustl.edu 37 6 31778931 31778931 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31778931 31778931 C T SNP HSPA1L ENST00000375654 human ensembl 70_37 -1 known silent c.819 p.K273 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 22 17 43.59 35 0 0.00 HSPA2 3306 genome.wustl.edu 37 14 65008081 65008081 + Missense_Mutation SNP C C A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 14 65008081 65008081 C A SNP HSPA2 ENST00000247207 human ensembl 70_37 +1 known missense c.514 p.R172S 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 41 10 19.61 53 0 0.00 HSPA2 3306 genome.wustl.edu 37 14 65008969 65008969 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65008969 65008969 C T SNP HSPA2 ENST00000247207 human ensembl 70_37 +1 known missense c.1402 p.P468S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 25 36 59.02 34 0 0.00 HSPA2 3306 genome.wustl.edu 37 14 65009338 65009338 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 65009338 65009338 G A SNP HSPA2 ENST00000247207 human ensembl 70_37 +1 known missense c.1771 p.E591K 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 21 15 41.67 16 0 0.00 HSPA4 3308 genome.wustl.edu 37 5 132409732 132409732 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132409732 132409732 G A SNP HSPA4 ENST00000304858 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 38 6 13.64 34 0 0.00 HSPA4 3308 genome.wustl.edu 37 5 132428464 132428464 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 132428464 132428464 G C SNP HSPA4 ENST00000304858 human ensembl 70_37 +1 known missense c.1633 p.E545Q 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 22 19 46.34 35 0 0.00 HSPA4L 22824 genome.wustl.edu 37 4 128726255 128726255 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 128726255 128726255 T C SNP HSPA4L ENST00000439123 human ensembl 70_37 +1 known missense c.1106 p.I369T 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 6 12 66.67 27 0 0.00 HSPA5 3309 genome.wustl.edu 37 9 128001705 128001705 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 128001705 128001705 G A SNP HSPA5 ENST00000324460 human ensembl 70_37 -1 known silent c.600 p.N200 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 63 45 40.91 62 0 0.00 HSPA6 3310 genome.wustl.edu 37 1 161495319 161495319 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 161495319 161495319 G A SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known missense c.871 p.E291K 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 126 32 20.25 129 0 0.00 HSPA6 3310 genome.wustl.edu 37 1 161495804 161495804 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 161495804 161495804 C G SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known silent c.1356 p.T452 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 85 23 21.30 71 0 0.00 HSPA6 3310 genome.wustl.edu 37 1 161495957 161495957 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161495957 161495957 C T SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known silent c.1509 p.I503 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 106 60 36.14 104 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122928447 122928447 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 122928447 122928447 C G SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1936 p.D646H 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 33 6 15.38 42 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122928971 122928971 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 122928971 122928971 C T SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1744 p.D582N 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 47 10 17.54 49 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122929020 122929020 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 122929020 122929020 C A SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1695 p.E565D 0.190 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 21 20 47.62 48 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122930607 122930607 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 122930607 122930607 C A SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.694 p.D232Y 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 24 8 25.00 24 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122931451 122931451 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 122931451 122931451 C T SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.261 p.M87I 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 13 12 48.00 54 0 0.00 HSPA8 3312 genome.wustl.edu 37 11 122931493 122931493 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 122931493 122931493 C T SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known silent c.219 p.L73 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 25 6 19.35 27 0 0.00 HSPA9 3313 genome.wustl.edu 37 5 137903344 137903344 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 137903344 137903344 C T SNP HSPA9 ENST00000297185 human ensembl 70_37 -1 known silent c.603 p.Q201 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 1 6 85.71 14 0 0.00 HSPA9 3313 genome.wustl.edu 37 5 137904654 137904654 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 137904654 137904654 C G SNP HSPA9 ENST00000297185 human ensembl 70_37 -1 known missense c.495 p.Q165H 0.995 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 57 7 10.94 63 0 0.00 HSPB1 3315 genome.wustl.edu 37 7 75933350 75933350 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 75933350 75933350 G A SNP HSPB1 ENST00000248553 human ensembl 70_37 +1 known missense c.478 p.E160K 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB1 HGNC ENSG00000106211 27 21 43.75 55 0 0.00 HSPB1 3315 genome.wustl.edu 37 7 75933361 75933361 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 75933361 75933361 G A SNP HSPB1 ENST00000248553 human ensembl 70_37 +1 known silent c.489 p.L163 0.998 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB1 HGNC ENSG00000106211 29 24 45.28 60 0 0.00 HSPB11 51668 genome.wustl.edu 37 1 54387427 54387427 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 54387427 54387427 G C SNP HSPB11 ENST00000194214 human ensembl 70_37 -1 known missense c.332 p.S111C 0.088 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors HSPB11 HGNC ENSG00000081870 14 13 46.43 18 0 0.00 HSPB7 27129 genome.wustl.edu 37 1 16342139 16342139 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 16342139 16342139 C T SNP HSPB7 ENST00000487046 human ensembl 70_37 -1 known missense c.464 p.R155Q 0.994 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 46 24 34.29 42 0 0.00 HSPB7 27129 genome.wustl.edu 37 1 16344400 16344400 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 16344400 16344400 G C SNP HSPB7 ENST00000487046 human ensembl 70_37 -1 known missense c.59 p.S20C 0.317 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 33 20 37.74 44 0 0.00 HSPB7 27129 genome.wustl.edu 37 1 16345659 16345659 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16345659 16345659 G A SNP HSPB7 ENST00000375718 human ensembl 70_37 -1 novel silent c.306 p.L102 0.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 71 17 19.32 101 0 0.00 HSPB8 26353 genome.wustl.edu 37 12 119617367 119617367 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 119617367 119617367 G A SNP HSPB8 ENST00000281938 human ensembl 70_37 +1 known missense c.250 p.E84K 0.944 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB8 HGNC ENSG00000152137 70 14 16.47 90 0 0.00 HSPBAP1 79663 genome.wustl.edu 37 3 122459521 122459521 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 122459521 122459521 C A SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1138 p.D380Y 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 16 11 40.74 30 0 0.00 HSPBAP1 79663 genome.wustl.edu 37 3 122459587 122459587 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122459587 122459587 C T SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.008 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 9 9 50.00 12 0 0.00 HSPBAP1 79663 genome.wustl.edu 37 3 122459641 122459641 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 122459641 122459641 C G SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1018 p.E340Q 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 157 23 12.78 164 0 0.00 HSPBP1 23640 genome.wustl.edu 37 19 55790870 55790870 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55790870 55790870 G A SNP HSPBP1 ENST00000255631 human ensembl 70_37 -1 known missense c.107 p.S36L 0.102 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 56 7 11.11 48 0 0.00 HSPE1 3336 genome.wustl.edu 37 2 198365389 198365389 + RNA SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 198365389 198365389 C G SNP HSPE1 ENST00000465573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HSPE1 HGNC ENSG00000115541 10 5 33.33 18 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22159062 22159062 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 22159062 22159062 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.11133 p.G3711 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 112 33 22.76 156 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22161247 22161247 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22161247 22161247 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.10645 p.D3549Y 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 32 11 25.00 33 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22166489 22166489 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 22166489 22166489 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.9535 p.D3179N 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 26 8 23.53 45 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22167723 22167723 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 22167723 22167723 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.9384 p.K3128N 0.092 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 34 20 37.04 78 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22168565 22168565 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 22168565 22168565 G A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.9123 p.F3041 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 30 11 26.83 41 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22169400 22169400 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 22169400 22169400 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.8773 p.Q2925E 0.995 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 55 15 21.43 53 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22170683 22170683 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 22170683 22170683 G A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.8574 p.V2858 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 49 33 40.24 71 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22170719 22170719 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22170719 22170719 C G SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.8538 p.L2846 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 34 12 26.09 26 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22174210 22174210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22174210 22174210 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.7997 p.R2666H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 31 5 13.89 23 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22177951 22177951 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 22177951 22177951 C G SNP HSPG2 ENST00000493940 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors HSPG2 HGNC ENSG00000142798 25 8 24.24 55 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22178154 22178154 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 22178154 22178154 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.7043 p.S2348C 0.933 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 99 24 19.51 184 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22178679 22178679 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22178679 22178679 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.6772 p.E2258K 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 76 47 38.21 90 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22181343 22181343 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22181343 22181343 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known nonsense c.6131 p.S2044* 0.967 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 41 29 41.43 63 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22201113 22201113 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22201113 22201113 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3524 p.C1175Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 33 9 20.93 38 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22201525 22201525 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22201525 22201525 G C SNP HSPG2 ENST00000498495 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors HSPG2 HGNC ENSG00000142798 40 12 23.08 37 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22202129 22202129 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22202129 22202129 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3295 p.E1099K 0.999 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 43 23 34.85 44 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22202144 22202144 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 22202144 22202144 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3280 p.A1094T 0.994 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 70 40 36.36 94 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22202370 22202370 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 22202370 22202370 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3169 p.V1057L 0.998 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 76 16 17.39 95 0 0.00 HSPG2 3339 genome.wustl.edu 37 1 22202741 22202741 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22202741 22202741 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known nonsense c.2984 p.S995* 0.004 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 64 31 32.63 44 0 0.00 HSPH1 10808 genome.wustl.edu 37 13 31717984 31717984 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 31717984 31717984 G C SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known missense c.1667 p.S556C 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 32 13 28.89 52 0 0.00 HSPH1 10808 genome.wustl.edu 37 13 31724198 31724198 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 31724198 31724198 C T SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known missense c.1036 p.A346T 0.815 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 98 46 31.94 143 0 0.00 HSPH1 10808 genome.wustl.edu 37 13 31725797 31725797 + Silent SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 31725797 31725797 T C SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known silent c.618 p.G206 0.997 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 47 10 17.54 40 0 0.00 HCCAT5 283902 genome.wustl.edu 37 16 73126796 73126796 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 73126796 73126796 G A SNP HTA ENST00000569990 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-346C20.2 Clone_based_vega_gene ENSG00000260880 32 11 25.00 63 0 0.00 HCCAT5 283902 genome.wustl.edu 37 16 73127411 73127411 + RNA SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 16 73127411 73127411 C T SNP HTA ENST00000569990 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-346C20.2 Clone_based_vega_gene ENSG00000260880 52 12 18.75 57 0 0.00 HTATSF1 27336 genome.wustl.edu 37 X 135582899 135582899 + Missense_Mutation SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 135582899 135582899 G C SNP HTATSF1 ENST00000218364 human ensembl 70_37 +1 known missense c.492 p.Q164H 0.920 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 200 164 44.69 239 0 0.00 HTATSF1 27336 genome.wustl.edu 37 X 135585077 135585077 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 135585077 135585077 G C SNP HTATSF1 ENST00000218364 human ensembl 70_37 +1 known missense c.711 p.K237N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 50 17 25.37 82 0 0.00 HTATSF1 27336 genome.wustl.edu 37 X 135593294 135593294 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 135593294 135593294 G A SNP HTATSF1 ENST00000218364 human ensembl 70_37 +1 known missense c.1390 p.E464K 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 29 22 43.14 29 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63256510 63256510 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 63256510 63256510 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.1037 p.T346M 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 34 17 33.33 30 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63256875 63256875 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 63256875 63256875 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.672 p.F224 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 171 42 19.72 304 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63256888 63256888 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 63256888 63256888 C T SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.659 p.R220Q 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 18 11 36.67 32 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63257044 63257044 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 63257044 63257044 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.503 p.S168F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 134 48 26.37 199 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63257096 63257096 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 63257096 63257096 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.451 p.R151W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 12 4 25.00 13 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63257121 63257121 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 63257121 63257121 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.426 p.I142 0.707 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 11 23 67.65 37 0 0.00 HTR1A 3350 genome.wustl.edu 37 5 63257163 63257163 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 63257163 63257163 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.384 p.C128 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 8 3 27.27 29 0 0.00 HTR1B 3351 genome.wustl.edu 37 6 78173057 78173057 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 78173057 78173057 G C SNP HTR1B ENST00000369947 human ensembl 70_37 -1 known missense c.64 p.Q22E 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC ENSG00000135312 20 15 42.86 63 0 0.00 HTR1B 3351 genome.wustl.edu 37 6 78173093 78173093 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 78173093 78173093 G A SNP HTR1B ENST00000369947 human ensembl 70_37 -1 known missense c.28 p.P10S 0.999 prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC ENSG00000135312 26 14 35.00 45 0 0.00 HTR1D 3352 genome.wustl.edu 37 1 23519579 23519579 + Nonstop_Mutation SNP C C A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 23519579 23519579 C A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known nonstop c.1134 p.*378Y 0.396 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 15 4 21.05 26 0 0.00 HTR1D 3352 genome.wustl.edu 37 1 23519981 23519981 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 23519981 23519981 G A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known silent c.732 p.L244 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 45 27 37.50 60 0 0.00 HTR1D 3352 genome.wustl.edu 37 1 23520071 23520071 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 23520071 23520071 G A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known silent c.642 p.I214 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 11 26 70.27 60 0 0.00 HTR1F 3355 genome.wustl.edu 37 3 88040000 88040000 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 88040000 88040000 C A SNP HTR1F ENST00000319595 human ensembl 70_37 +1 known missense c.101 p.A34E 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC ENSG00000179097 55 41 42.71 55 0 0.00 HTR1F 3355 genome.wustl.edu 37 3 88040735 88040735 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 88040735 88040735 G A SNP HTR1F ENST00000319595 human ensembl 70_37 +1 known missense c.836 p.R279K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC ENSG00000179097 13 5 27.78 34 0 0.00 HTR2A 3356 genome.wustl.edu 37 13 47466697 47466697 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 47466697 47466697 A G SNP HTR2A ENST00000378688 human ensembl 70_37 -1 known silent c.441 p.L147 0.985 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 9 4 30.77 28 0 0.00 HTR2B 3357 genome.wustl.edu 37 2 231973376 231973376 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231973376 231973376 C T SNP HTR2B ENST00000258400 human ensembl 70_37 -1 known missense c.1301 p.R434Q 1.000 prints_5HT2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 23 10 30.30 50 0 0.00 HTR2B 3357 genome.wustl.edu 37 2 231973557 231973557 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 231973557 231973557 C T SNP HTR2B ENST00000258400 human ensembl 70_37 -1 known missense c.1120 p.G374R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 26 13 33.33 27 0 0.00 HTR2C 3358 genome.wustl.edu 37 X 113961366 113961366 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 113961366 113961366 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known silent c.21 p.A7 0.569 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 33 17 34.00 51 0 0.00 HTR2C 3358 genome.wustl.edu 37 X 114141190 114141190 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 114141190 114141190 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known missense c.589 p.E197K 0.898 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 94 34 26.56 131 0 0.00 HTR2C 3358 genome.wustl.edu 37 X 114141786 114141786 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 114141786 114141786 C G SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known silent c.1185 p.V395 0.000 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 12 10 45.45 32 0 0.00 HTR2C 3358 genome.wustl.edu 37 X 114141909 114141909 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 114141909 114141909 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known missense c.1308 p.M436I 0.991 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 28 5 15.15 32 0 0.00 HTR3A 3359 genome.wustl.edu 37 11 113848497 113848497 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 113848497 113848497 G A SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known silent c.90 p.R30 0.001 tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 35 14 28.57 90 0 0.00 HTR3A 3359 genome.wustl.edu 37 11 113852023 113852023 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 113852023 113852023 C T SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known silent c.381 p.L127 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 45 17 27.42 52 0 0.00 HTR3A 3359 genome.wustl.edu 37 11 113860273 113860273 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 113860273 113860273 C T SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known missense c.1339 p.R447W 0.127 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 17 19 52.78 46 0 0.00 HTR3B 9177 genome.wustl.edu 37 11 113803663 113803663 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113803663 113803663 G T SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.544 p.D182Y 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 61 7 10.14 103 0 0.00 HTR3B 9177 genome.wustl.edu 37 11 113813817 113813817 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 113813817 113813817 G C SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.810 p.R270S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 5 38 88.37 41 0 0.00 HTR3B 9177 genome.wustl.edu 37 11 113813893 113813893 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 113813893 113813893 G T SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.886 p.V296L 0.019 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 34 4 10.53 37 0 0.00 HTR3B 9177 genome.wustl.edu 37 11 113815388 113815388 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 113815388 113815388 G A SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.1001 p.G334E 0.179 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 91 15 14.02 79 0 0.00 HTR3C 170572 genome.wustl.edu 37 3 183772526 183772526 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 183772526 183772526 A C SNP HTR3C ENST00000318351 human ensembl 70_37 +1 known missense c.85 p.T29P 0.588 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 22 14 38.89 79 0 0.00 HTR3D 200909 genome.wustl.edu 37 3 183754187 183754187 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 183754187 183754187 C T SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.405 p.L135 0.901 superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 67 22 24.72 59 0 0.00 HTR3D 200909 genome.wustl.edu 37 3 183755875 183755875 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 183755875 183755875 C G SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known missense c.727 p.L243V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 30 14 31.82 47 0 0.00 HTR3D 200909 genome.wustl.edu 37 3 183756156 183756156 + Splice_Site SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183756156 183756156 G A SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known splice_site c.880-1 e7-1 0.001 - - - no_errors HTR3D HGNC ENSG00000186090 66 22 25.00 45 0 0.00 HTR3D 200909 genome.wustl.edu 37 3 183756393 183756393 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 183756393 183756393 C T SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.1116 p.L372 0.004 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 39 13 25.00 30 0 0.00 HTR3D 200909 genome.wustl.edu 37 3 183756706 183756706 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183756706 183756706 C G SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.1308 p.L436 0.229 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 50 12 19.35 16 0 0.00 HTR3E 285242 genome.wustl.edu 37 3 183815375 183815375 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183815375 183815375 C T SNP HTR3E ENST00000415389 human ensembl 70_37 +1 known silent c.58 p.L20 0.292 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 100 19 15.97 75 0 0.00 HTR3E 285242 genome.wustl.edu 37 3 183821990 183821990 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 183821990 183821990 C T SNP HTR3E ENST00000335304 human ensembl 70_37 +1 known silent c.345 p.I115 0.705 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 79 16 16.84 39 0 0.00 HTR3E 285242 genome.wustl.edu 37 3 183823717 183823717 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 183823717 183823717 G A SNP HTR3E ENST00000335304 human ensembl 70_37 +1 known missense c.930 p.M310I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 94 28 22.76 66 0 0.00 HTR3E 285242 genome.wustl.edu 37 3 183824066 183824066 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 183824066 183824066 G A SNP HTR3E ENST00000335304 human ensembl 70_37 +1 known missense c.1121 p.R374K 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 72 11 13.25 46 0 0.00 HTR4 3360 genome.wustl.edu 37 5 147845452 147845452 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 147845452 147845452 G A SNP HTR4 ENST00000314512 human ensembl 70_37 -1 known silent c.1113 p.F371 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 17 11 39.29 25 0 0.00 HTR4 3360 genome.wustl.edu 37 5 147889077 147889077 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 147889077 147889077 G C SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known missense c.1018 p.L340V 1.000 prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 21 5 18.52 39 0 0.00 HTR4 3360 genome.wustl.edu 37 5 147889204 147889204 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 147889204 147889204 G A SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.891 p.F297 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 22 5 17.86 31 0 0.00 HTR4 3360 genome.wustl.edu 37 5 147889570 147889570 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 147889570 147889570 G A SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.525 p.F175 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 78 57 42.22 135 0 0.00 HTR4 3360 genome.wustl.edu 37 5 147929786 147929786 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 147929786 147929786 C T SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.66 p.L22 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 19 12 38.71 60 0 0.00 HTR5A 3361 genome.wustl.edu 37 7 154862923 154862923 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 7 154862923 154862923 G A SNP HTR5A ENST00000287907 human ensembl 70_37 +1 known missense c.314 p.R105H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 20 16 44.44 22 0 0.00 HTR5A 3361 genome.wustl.edu 37 7 154863129 154863129 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 154863129 154863129 C T SNP HTR5A ENST00000287907 human ensembl 70_37 +1 known silent c.520 p.L174 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 34 13 27.66 51 0 0.00 HTR6 3362 genome.wustl.edu 37 1 19992308 19992308 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19992308 19992308 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.62 p.S21L 0.654 prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 6 6 50.00 11 0 0.00 HTR6 3362 genome.wustl.edu 37 1 19992919 19992919 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 19992919 19992919 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.673 p.L225F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 30 10 25.00 47 0 0.00 HTR6 3362 genome.wustl.edu 37 1 20005617 20005617 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 20005617 20005617 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.1079 p.P360L 0.968 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 24 8 25.00 37 0 0.00 HTR7 3363 genome.wustl.edu 37 10 92508659 92508659 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 92508659 92508659 G C SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known nonsense c.1232 p.S411* 1.000 prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 26 4 13.33 29 0 0.00 HTR7 3363 genome.wustl.edu 37 10 92508964 92508964 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 92508964 92508964 G A SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known silent c.927 p.L309 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 52 27 34.18 76 0 0.00 HTR7 3363 genome.wustl.edu 37 10 92508968 92508968 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 92508968 92508968 A G SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known missense c.923 p.L308P 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 59 11 15.71 82 0 0.00 HTR7P1 93164 genome.wustl.edu 37 12 13155782 13155782 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 13155782 13155782 G C SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.472 - - - no_errors HTR7P1 HGNC ENSG00000183935 41 21 33.87 65 0 0.00 HTR7P1 93164 genome.wustl.edu 37 12 13157406 13157406 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13157406 13157406 G T SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors HTR7P1 HGNC ENSG00000183935 14 4 22.22 19 0 0.00 HTR7P1 93164 genome.wustl.edu 37 12 13157419 13157419 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 13157419 13157419 C T SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.336 - - - no_errors HTR7P1 HGNC ENSG00000183935 45 11 19.64 36 0 0.00 HTRA1 5654 genome.wustl.edu 37 10 124266386 124266386 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 124266386 124266386 C T SNP HTRA1 ENST00000368984 human ensembl 70_37 +1 known silent c.957 p.T319 0.003 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,prints_Peptidase_S1C pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ - no_errors HTRA1 HGNC ENSG00000166033 17 5 22.73 46 0 0.00 HTT 3064 genome.wustl.edu 37 4 3109064 3109064 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3109064 3109064 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.661 p.E221K 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 78 32 28.83 116 0 0.00 HTT 3064 genome.wustl.edu 37 4 3117082 3117082 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3117082 3117082 C T SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.799 p.R267W 0.997 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 21 24 53.33 43 0 0.00 HTT 3064 genome.wustl.edu 37 4 3122961 3122961 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 3122961 3122961 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.1075 p.E359K 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 32 4 11.11 32 0 0.00 HTT 3064 genome.wustl.edu 37 4 3136143 3136143 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 3136143 3136143 C G SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.2509 p.L837V 0.969 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 96 34 26.15 169 0 0.00 HTT 3064 genome.wustl.edu 37 4 3182304 3182304 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3182304 3182304 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.4675 p.D1559N 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 101 30 22.90 148 0 0.00 HTT 3064 genome.wustl.edu 37 4 3189445 3189445 + Missense_Mutation SNP A A C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 3189445 3189445 A C SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.5057 p.Q1686P 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 23 44 65.67 78 0 0.00 HTT 3064 genome.wustl.edu 37 4 3190799 3190799 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 4 3190799 3190799 C T SNP HTT ENST00000355072 human ensembl 70_37 +1 known silent c.5347 p.L1783 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 27 48 64.00 54 0 0.00 HTT 3064 genome.wustl.edu 37 4 3201506 3201506 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3201506 3201506 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.5416 p.D1806N 0.974 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 45 33 42.31 65 0 0.00 HTT 3064 genome.wustl.edu 37 4 3213737 3213737 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 3213737 3213737 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.6496 p.E2166K 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 33 18 34.62 30 0 0.00 HUNK 30811 genome.wustl.edu 37 21 33346885 33346885 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 21 33346885 33346885 G C SNP HUNK ENST00000270112 human ensembl 70_37 +1 known silent c.1029 p.L343 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HUNK HGNC ENSG00000142149 21 9 30.00 30 0 0.00 HUS1B 135458 genome.wustl.edu 37 6 656450 656450 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 656450 656450 C T SNP HUS1B ENST00000380907 human ensembl 70_37 -1 known silent c.495 p.L165 0.557 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 95 20 17.39 68 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53560326 53560326 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53560326 53560326 G A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.13069 p.R4357C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 13 11 45.83 37 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53564520 53564520 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 53564520 53564520 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.12134 p.R4045Q 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 91 57 38.26 95 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53564617 53564617 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 53564617 53564617 G A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.12037 p.R4013W 1.000 superfamily_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 54 41 43.16 89 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53579331 53579331 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 53579331 53579331 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8822 p.R2941Q 0.994 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 47 14 22.95 50 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53579708 53579708 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53579708 53579708 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8641 p.E2881K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 19 18 48.65 38 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53579732 53579732 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 53579732 53579732 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8617 p.D2873N 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 18 18 50.00 28 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53588727 53588727 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53588727 53588727 G C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7497 p.F2499L 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 44 25 36.23 60 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53589104 53589104 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53589104 53589104 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7306 p.E2436K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 36 27 42.86 64 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53589158 53589158 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 53589158 53589158 C A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known nonsense c.7252 p.E2418* 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 24 22 47.83 22 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53589843 53589843 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 53589843 53589843 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7153 p.E2385K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 76 11 12.64 101 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53591561 53591561 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53591561 53591561 C G SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7003 p.E2335Q 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 39 28 41.79 42 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53615416 53615416 + Missense_Mutation SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 53615416 53615416 T C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.4540 p.I1514V 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 51 20 28.17 39 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53643957 53643957 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 53643957 53643957 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.1931 p.R644Q 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 91 42 31.58 168 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53644394 53644394 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 53644394 53644394 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known silent c.1686 p.V562 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 18 3 14.29 29 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53655822 53655822 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53655822 53655822 G C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.995 p.T332R 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 12 13 52.00 29 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53672359 53672359 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 53672359 53672359 A C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.408 p.N136K 0.938 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 53 9 14.52 77 0 0.00 HUWE1 10075 genome.wustl.edu 37 X 53675225 53675225 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 53675225 53675225 T G SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.74 p.K25T 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 21 19 47.50 52 0 0.00 HYAL1 3373 genome.wustl.edu 37 3 50337989 50337989 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50337989 50337989 C G SNP HYAL1 ENST00000266031 human ensembl 70_37 -1 known missense c.1233 p.Q411H 0.005 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC ENSG00000114378 150 38 20.21 178 0 0.00 HYAL2 8692 genome.wustl.edu 37 3 50357191 50357191 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 50357191 50357191 C T SNP HYAL2 ENST00000357750 human ensembl 70_37 -1 known missense c.730 p.E244K 0.996 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 30 21 41.18 47 0 0.00 HYAL4 23553 genome.wustl.edu 37 7 123508682 123508682 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 123508682 123508682 C T SNP HYAL4 ENST00000223026 human ensembl 70_37 +1 known nonsense c.355 p.Q119* 0.975 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC ENSG00000106302 10 5 33.33 23 0 0.00 HYAL4 23553 genome.wustl.edu 37 7 123514826 123514826 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 123514826 123514826 C T SNP HYAL4 ENST00000223026 human ensembl 70_37 +1 known silent c.966 p.V322 1.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC ENSG00000106302 10 13 56.52 40 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70863624 70863624 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 70863624 70863624 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.14006 p.W4669S 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 10 4 28.57 17 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70866947 70866947 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70866947 70866947 A C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.13700 p.F4567C 0.003 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 13 13 50.00 34 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70894771 70894771 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 16 70894771 70894771 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.11808 p.P3936 0.002 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 13 5 27.78 44 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70908781 70908781 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70908781 70908781 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.10596 p.L3532 0.999 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 29 11 27.50 50 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70917970 70917970 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 70917970 70917970 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.9829 p.G3277R 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 27 9 25.00 22 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70952271 70952271 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 70952271 70952271 G A SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.7844 p.S2615L 0.997 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 20 9 31.03 21 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 70969968 70969968 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 70969968 70969968 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.7042 p.E2348K 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 24 8 25.00 49 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71004492 71004492 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 71004492 71004492 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.5547 p.K1849 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 7 7 50.00 20 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71008192 71008192 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 71008192 71008192 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.4918 p.E1640Q 0.996 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 26 17 39.53 23 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71012846 71012846 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 71012846 71012846 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.4606 p.E1536K 0.700 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 45 9 16.67 36 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71015349 71015349 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 71015349 71015349 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.4452 p.L1484 0.156 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 106 24 18.46 153 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71019146 71019146 + Missense_Mutation SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 71019146 71019146 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.4271 p.D1424G 0.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 46 19 29.23 37 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71101200 71101200 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71101200 71101200 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.2068 p.T690A 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 3 5 62.50 19 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71127751 71127751 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 71127751 71127751 T G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.1415 p.K472T 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 15 13 46.43 35 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71127826 71127826 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 71127826 71127826 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.1340 p.R447H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 36 10 21.74 32 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71163621 71163621 + Silent SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71163621 71163621 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.1149 p.R383 0.637 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 20 7 25.93 30 0 0.00 HYDIN 54768 genome.wustl.edu 37 16 71218810 71218810 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71218810 71218810 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.219 p.Q73H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 39 12 23.53 117 0 0.00 HYOU1 10525 genome.wustl.edu 37 11 118918983 118918983 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118918983 118918983 C T SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.2353 p.E785K 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 15 9 37.50 19 0 0.00 HYOU1 10525 genome.wustl.edu 37 11 118920534 118920534 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 118920534 118920534 C G SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1681 p.E561Q 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 12 2 14.29 20 0 0.00 HYOU1 10525 genome.wustl.edu 37 11 118922230 118922230 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 118922230 118922230 G C SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1446 p.I482M 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 42 20 32.26 72 0 0.00 HYOU1 10525 genome.wustl.edu 37 11 118922845 118922845 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 118922845 118922845 G A SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1162 p.R388W 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 45 6 11.76 58 0 0.00 HYOU1 10525 genome.wustl.edu 37 11 118924883 118924883 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 118924883 118924883 C T SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known silent c.744 p.V248 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 20 15 42.86 23 0 0.00 HYPK 25764 genome.wustl.edu 37 15 44094050 44094050 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44094050 44094050 A C SNP HYPK ENST00000497142 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HYPK HGNC ENSG00000242028 9 6 40.00 12 0 0.00 IAH1 285148 genome.wustl.edu 37 2 9618415 9618415 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 9618415 9618415 C T SNP IAH1 ENST00000497473 human ensembl 70_37 +1 known missense c.199 p.P67S 0.998 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors IAH1 HGNC ENSG00000134330 35 24 40.68 60 0 0.00 IAPP 3375 genome.wustl.edu 37 12 21531188 21531188 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 21531188 21531188 G A SNP IAPP ENST00000240652 human ensembl 70_37 +1 known missense c.98 p.R33Q 0.966 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 32 6 15.79 37 0 0.00 IARS 3376 genome.wustl.edu 37 9 95002843 95002844 + RNA DEL TT TT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 95002843 95002844 TT - DEL IARS ENST00000474340 human ensembl 70_37 -1 known rna NULL NULL 0.018:0.021 - - - no_errors IARS HGNC ENSG00000196305 6 2 25.00 9 0 0.00 IARS 3376 genome.wustl.edu 37 9 95002909 95002909 + RNA SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 95002909 95002909 C G SNP IARS ENST00000474340 human ensembl 70_37 -1 known rna NULL NULL 0.219 - - - no_errors IARS HGNC ENSG00000196305 26 7 21.21 29 0 0.00 IARS 3376 genome.wustl.edu 37 9 95003120 95003120 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 95003120 95003120 C G SNP IARS ENST00000473915 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IARS HGNC ENSG00000196305 47 26 35.62 61 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220269459 220269459 + Nonsense_Mutation SNP C C A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 220269459 220269459 C A SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known nonsense c.281 p.S94* 0.997 tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 24 10 29.41 36 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220269471 220269471 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 220269471 220269471 C T SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known missense c.293 p.S98L 1.000 tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 28 11 28.21 37 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220275594 220275594 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 220275594 220275594 G C SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known missense c.674 p.R225T 0.979 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 51 11 17.74 57 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220311206 220311206 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 220311206 220311206 G A SNP IARS2 ENST00000488777 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors IARS2 HGNC ENSG00000067704 33 21 38.89 36 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220311328 220311328 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 220311328 220311328 C T SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known silent c.2118 p.F706 0.994 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 35 21 37.50 38 0 0.00 IARS2 55699 genome.wustl.edu 37 1 220320875 220320875 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 220320875 220320875 C A SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known silent c.2937 p.V979 0.925 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 30 11 26.83 42 0 0.00 IBA57 200205 genome.wustl.edu 37 1 228363051 228363051 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 228363051 228363051 C T SNP IBA57 ENST00000366711 human ensembl 70_37 +1 known missense c.908 p.S303L 0.007 pfam_GCV_T_C pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 50 16 24.24 60 0 0.00 IBTK 25998 genome.wustl.edu 37 6 82906017 82906017 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 82906017 82906017 C T SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.3172 p.E1058K 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 22 16 42.11 38 0 0.00 IBTK 25998 genome.wustl.edu 37 6 82912252 82912252 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 82912252 82912252 C T SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.2722 p.E908K 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 26 29 52.73 26 0 0.00 IBTK 25998 genome.wustl.edu 37 6 82950091 82950091 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 82950091 82950091 G C SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.113 p.S38C 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 36 10 21.74 55 0 0.00 ICA1 3382 genome.wustl.edu 37 7 8153554 8153554 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 8153554 8153554 C T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known silent c.1538 p.*513 1.000 NULL pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 45 21 31.82 57 0 0.00 ICA1 3382 genome.wustl.edu 37 7 8181633 8181633 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 8181633 8181633 G T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known missense c.955 p.L319I 0.001 NULL pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 24 3 11.11 32 0 0.00 ICA1 3382 genome.wustl.edu 37 7 8268241 8268241 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 8268241 8268241 C G SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known missense c.246 p.K82N 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 52 13 20.00 61 0 0.00 ICA1 3382 genome.wustl.edu 37 7 8268265 8268265 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 8268265 8268265 C T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known silent c.222 p.S74 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 3 4 57.14 17 0 0.00 ICA1 3382 genome.wustl.edu 37 7 8272304 8272304 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 7 8272304 8272304 C T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known silent c.99 p.T33 0.045 pfam_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 126 47 27.17 119 0 0.00 ICA1L 130026 genome.wustl.edu 37 2 203651476 203651476 + Frame_Shift_Del DEL T T - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 203651476 203651476 T - DEL ICA1L ENST00000438804 human ensembl 70_37 -1 known frame_shift_del c.1266 p.K422fs 0.002 pfam_Islet_autoAg_Ica1_C pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1L HGNC ENSG00000163596 49 7 12.50 26 0 0.00 ICAM1 3383 genome.wustl.edu 37 19 10394332 10394332 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10394332 10394332 C T SNP ICAM1 ENST00000264832 human ensembl 70_37 +1 known silent c.507 p.V169 0.053 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 26 6 18.75 45 0 0.00 ICAM2 3384 genome.wustl.edu 37 17 62081145 62081145 + Nonsense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 62081145 62081145 C A SNP ICAM2 ENST00000412356 human ensembl 70_37 -1 known nonsense c.508 p.E170* 0.013 NULL pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 44 18 29.03 52 0 0.00 ICAM3 3385 genome.wustl.edu 37 19 10445073 10445073 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10445073 10445073 T G SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known missense c.1204 p.I402L 0.784 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 42 10 19.23 73 0 0.00 ICAM3 3385 genome.wustl.edu 37 19 10446397 10446397 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10446397 10446397 C T SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known missense c.599 p.G200E 0.269 prints_ICAM pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 98 19 16.24 135 0 0.00 ICAM3 3385 genome.wustl.edu 37 19 10446430 10446430 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10446430 10446430 G C SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known nonsense c.566 p.S189* 0.951 pfscan_Ig-like pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 53 21 28.38 41 0 0.00 ICAM3 3385 genome.wustl.edu 37 19 10446644 10446644 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 10446644 10446644 C T SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known missense c.352 p.E118K 0.000 pfam_ICAM_N,pfscan_Ig-like,prints_ICAM_VCAM_N pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 23 5 17.86 30 0 0.00 ICAM4 3386 genome.wustl.edu 37 19 10398021 10398021 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10398021 10398021 G A SNP ICAM4 ENST00000340992 human ensembl 70_37 +1 known silent c.333 p.A111 0.001 pfam_ICAM_N pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 29 8 21.62 50 0 0.00 ICAM5 7087 genome.wustl.edu 37 19 10402778 10402778 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10402778 10402778 G A SNP ICAM5 ENST00000221980 human ensembl 70_37 +1 known silent c.741 p.V247 1.000 NULL pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 92 43 31.85 109 0 0.00 ICK 22858 genome.wustl.edu 37 6 52902788 52902788 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 52902788 52902788 C T SNP ICK ENST00000350082 human ensembl 70_37 -1 known missense c.105 p.M35I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ICK HGNC ENSG00000112144 34 5 12.82 59 0 0.00 ICMT 23463 genome.wustl.edu 37 1 6283548 6283548 + RNA DEL A A - TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 6283548 6283548 A - DEL ICMT ENST00000483852 human ensembl 70_37 -1 known rna NULL NULL 0.867 - - - no_errors ICMT HGNC ENSG00000116237 1 5 83.33 9 0 0.00 ICOSLG 23308 genome.wustl.edu 37 21 45649487 45649487 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 45649487 45649487 C T SNP ICOSLG ENST00000400379 human ensembl 70_37 -1 putative missense c.1348 p.G450R 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 40 14 25.93 27 0 0.00 ICOSLG 23308 genome.wustl.edu 37 21 45649510 45649510 + Missense_Mutation SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 21 45649510 45649510 A G SNP ICOSLG ENST00000400379 human ensembl 70_37 -1 putative missense c.1325 p.L442P 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 14 5 26.32 23 0 0.00 ID1 3397 genome.wustl.edu 37 20 30193259 30193259 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 30193259 30193259 G C SNP ID1 ENST00000376112 human ensembl 70_37 +1 known missense c.69 p.K23N 0.985 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID1 HGNC ENSG00000125968 17 11 39.29 19 0 0.00 ID1 3397 genome.wustl.edu 37 20 30193562 30193562 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 20 30193562 30193562 G T SNP ID1 ENST00000376112 human ensembl 70_37 +1 known silent c.372 p.P124 0.002 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID1 HGNC ENSG00000125968 44 11 20.00 49 0 0.00 ID2 3398 genome.wustl.edu 37 2 8822502 8822502 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 8822502 8822502 C T SNP ID2 ENST00000234091 human ensembl 70_37 +1 known silent c.207 p.I69 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID2 HGNC ENSG00000115738 71 32 31.07 95 0 0.00 ID3 3399 genome.wustl.edu 37 1 23885560 23885560 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23885560 23885560 G A SNP ID3 ENST00000463312 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ID3 HGNC ENSG00000117318 31 39 55.71 66 0 0.00 ID4 3400 genome.wustl.edu 37 6 19838106 19838108 + In_Frame_Del DEL GCG GCG - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 6 19838106 19838108 GCG - DEL ID4 ENST00000378700 human ensembl 70_37 +1 known in_frame_del c.121_123 p.A44in_frame_del 0.988:0.989:0.984 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_HLH_dom,superfamily_HLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_HLH_dom,pfscan_HLH_dom - no_errors ID4 HGNC ENSG00000172201 22 3 12.00 24 0 0.00 IDE 3416 genome.wustl.edu 37 10 94234652 94234652 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94234652 94234652 A C SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.2062 p.L688V 0.996 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 13 12 48.00 36 0 0.00 IDE 3416 genome.wustl.edu 37 10 94264579 94264579 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94264579 94264579 G T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.1402 p.L468I 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 26 22 45.83 61 0 0.00 IDE 3416 genome.wustl.edu 37 10 94264597 94264597 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 94264597 94264597 C G SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.1384 p.D462H 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 46 15 24.59 58 0 0.00 IDE 3416 genome.wustl.edu 37 10 94269864 94269864 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 94269864 94269864 G T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.840 p.N280K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 15 3 16.67 31 0 0.00 IDE 3416 genome.wustl.edu 37 10 94297221 94297221 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 94297221 94297221 C T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.185 p.R62Q 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 59 12 16.90 80 0 0.00 IDH3A 3419 genome.wustl.edu 37 15 78449273 78449273 + Nonstop_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 78449273 78449273 G C SNP IDH3A ENST00000559865 human ensembl 70_37 +1 known nonstop c.114 p.*38Y 0.000 NULL NULL - no_errors IDH3A HGNC ENSG00000166411 33 4 10.81 50 0 0.00 IDH3A 3419 genome.wustl.edu 37 15 78454651 78454651 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 78454651 78454651 G C SNP IDH3A ENST00000299518 human ensembl 70_37 +1 known missense c.553 p.E185Q 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC ENSG00000166411 81 12 12.90 84 0 0.00 IDH3B 3420 genome.wustl.edu 37 20 2639177 2639177 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 2639177 2639177 G A SNP IDH3B ENST00000488299 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IDH3B HGNC ENSG00000101365 16 3 15.79 25 0 0.00 IDH3B 3420 genome.wustl.edu 37 20 2644581 2644581 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 2644581 2644581 G A SNP IDH3B ENST00000380843 human ensembl 70_37 -1 known missense c.107 p.S36L 0.001 NULL pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 38 29 43.28 40 0 0.00 IDH3B 3420 genome.wustl.edu 37 20 2644840 2644840 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2644840 2644840 C T SNP IDH3B ENST00000462967 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IDH3B HGNC ENSG00000101365 24 29 54.72 50 0 0.00 IDH3G 3421 genome.wustl.edu 37 X 153051683 153051683 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153051683 153051683 G A SNP IDH3G ENST00000217901 human ensembl 70_37 -1 known missense c.1064 p.S355F 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 35 7 16.67 21 0 0.00 IDH3G 3421 genome.wustl.edu 37 X 153055288 153055288 + RNA SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 153055288 153055288 C T SNP IDH3G ENST00000479521 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IDH3G HGNC ENSG00000067829 55 11 16.67 55 0 0.00 IDI1 3422 genome.wustl.edu 37 10 1087432 1087432 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 1087432 1087432 C G SNP IDI1 ENST00000381344 human ensembl 70_37 -1 known missense c.550 p.E184Q 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 14 2 12.50 19 0 0.00 IDI2 91734 genome.wustl.edu 37 10 1065758 1065758 + Missense_Mutation SNP A A G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 10 1065758 1065758 A G SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known missense c.383 p.I128T 0.252 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 12 30 71.43 50 0 0.00 IDI2 91734 genome.wustl.edu 37 10 1065765 1065765 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 1065765 1065765 C G SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known missense c.376 p.E126Q 0.021 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 15 13 46.43 34 0 0.00 IDI2 91734 genome.wustl.edu 37 10 1070526 1070526 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 1070526 1070526 C T SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known silent c.138 p.E46 0.381 superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 41 5 10.87 52 0 0.00 IDI2-AS1 55853 genome.wustl.edu 37 10 1082762 1082762 + RNA SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 10 1082762 1082762 C T SNP IDI2-AS1 ENST00000420381 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors IDI2-AS1 HGNC ENSG00000232656 22 7 24.14 23 0 0.00 IDO1 3620 genome.wustl.edu 37 8 39775486 39775486 + Frame_Shift_Del DEL G G - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 39775486 39775486 G - DEL IDO1 ENST00000518237 human ensembl 70_37 +1 known frame_shift_del c.180 p.K61fs 0.937 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 45 12 21.05 46 0 0.00 IDO2 169355 genome.wustl.edu 37 8 39806742 39806742 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 39806742 39806742 C G SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known missense c.97 p.H33D 0.993 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 59 46 43.81 68 0 0.00 IDO2 169355 genome.wustl.edu 37 8 39836100 39836100 + RNA SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 39836100 39836100 T C SNP IDO2 ENST00000421393 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IDO2 HGNC ENSG00000188676 24 24 50.00 17 0 0.00 IDO2 169355 genome.wustl.edu 37 8 39847293 39847293 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 39847293 39847293 C G SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known silent c.642 p.L214 0.119 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 16 6 27.27 32 0 0.00 IDO2 169355 genome.wustl.edu 37 8 39847324 39847324 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 39847324 39847324 C T SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known nonsense c.673 p.Q225* 0.992 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 23 5 17.86 45 0 0.00 IDO2 169355 genome.wustl.edu 37 8 39862883 39862883 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 39862883 39862883 G A SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known silent c.744 p.R248 1.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 28 6 17.65 31 0 0.00 IDS 3423 genome.wustl.edu 37 X 148564588 148564588 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 148564588 148564588 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.1342 p.E448K 0.142 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 27 24 46.15 41 0 0.00 IDS 3423 genome.wustl.edu 37 X 148568846 148568846 + Splice_Site SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 148568846 148568846 T G SNP IDS ENST00000370441 human ensembl 70_37 -1 known splice_site c.1007-2 e8-2 0.000 - - - no_errors IDS HGNC ENSG00000010404 19 6 24.00 33 0 0.00 IDS 3423 genome.wustl.edu 37 X 148571887 148571887 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 148571887 148571887 G C SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.964 p.Q322E 0.987 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 28 11 28.21 36 0 0.00 IDS 3423 genome.wustl.edu 37 X 148577936 148577936 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 148577936 148577936 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 18 14 43.75 40 0 0.00 IDS 3423 genome.wustl.edu 37 X 148579754 148579754 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 148579754 148579754 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.592 p.D198N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 40 16 28.57 44 0 0.00 IDS 3423 genome.wustl.edu 37 X 148584733 148584733 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 148584733 148584733 C T SNP IDS ENST00000428056 human ensembl 70_37 -1 known missense c.527 p.R176Q 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 69 13 15.85 47 0 0.00 IDS 3423 genome.wustl.edu 37 X 148585784 148585784 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 148585784 148585784 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.143 p.R48H 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 66 19 22.35 65 0 0.00 IDS 3423 genome.wustl.edu 37 X 148585791 148585791 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 148585791 148585791 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.136 p.D46N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 42 9 17.65 47 0 0.00 IDUA 3425 genome.wustl.edu 37 4 997845 997845 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 997845 997845 G A SNP IDUA ENST00000453894 human ensembl 70_37 +1 known silent c.1839 p.A613 0.000 superfamily_Fibronectin_type3 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 42 11 20.75 73 0 0.00 IER2 9592 genome.wustl.edu 37 19 13264244 13264244 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 13264244 13264244 G C SNP IER2 ENST00000292433 human ensembl 70_37 +1 known missense c.244 p.E82Q 0.052 pfam_IER pfam_IER - no_errors IER2 HGNC ENSG00000160888 16 10 38.46 26 0 0.00 IER2 9592 genome.wustl.edu 37 19 13264405 13264405 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 13264405 13264405 G T SNP IER2 ENST00000292433 human ensembl 70_37 +1 known silent c.405 p.L135 0.985 pfam_IER pfam_IER - no_errors IER2 HGNC ENSG00000160888 35 4 10.26 34 0 0.00 IER3 8870 genome.wustl.edu 37 6 30711813 30711813 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 30711813 30711813 G A SNP IER3 ENST00000259874 human ensembl 70_37 -1 known missense c.371 p.P124L 0.001 NULL NULL - no_errors IER3 HGNC ENSG00000137331 46 14 23.33 44 0 0.00 IER5 51278 genome.wustl.edu 37 1 181058848 181058848 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 181058848 181058848 C T SNP IER5 ENST00000367577 human ensembl 70_37 +1 known silent c.810 p.I270 0.991 pfam_IER pfam_IER - no_errors IER5 HGNC ENSG00000162783 118 55 31.79 151 0 0.00 IER5L 389792 genome.wustl.edu 37 9 131939150 131939150 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 131939150 131939150 G A SNP IER5L ENST00000372491 human ensembl 70_37 -1 known silent c.1182 p.L394 1.000 pfam_IER pfam_IER - no_errors IER5L HGNC ENSG00000188483 7 3 30.00 10 0 0.00 IFFO1 25900 genome.wustl.edu 37 12 6649649 6649649 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6649649 6649649 C T SNP IFFO1 ENST00000356896 human ensembl 70_37 -1 known silent c.1692 p.*564 0.999 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 81 23 22.12 117 0 0.00 IFI16 3428 genome.wustl.edu 37 1 158988186 158988186 + Missense_Mutation SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 158988186 158988186 C A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known missense c.717 p.F239L 0.072 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 53 36 40.45 61 0 0.00 IFI16 3428 genome.wustl.edu 37 1 158990292 158990292 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 158990292 158990292 G C SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known silent c.1134 p.L378 0.004 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 11 6 35.29 14 0 0.00 IFI16 3428 genome.wustl.edu 37 1 159002419 159002419 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159002419 159002419 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known missense c.1267 p.E423K 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 70 17 19.54 53 0 0.00 IFI16 3428 genome.wustl.edu 37 1 159002440 159002440 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159002440 159002440 C T SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known nonsense c.1288 p.Q430* 0.002 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 51 22 30.14 63 0 0.00 IFI16 3428 genome.wustl.edu 37 1 159021543 159021543 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 159021543 159021543 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known silent c.1740 p.V580 0.149 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 39 25 39.06 41 0 0.00 IFI16 3428 genome.wustl.edu 37 1 159021552 159021552 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 159021552 159021552 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known silent c.1749 p.L583 0.592 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 35 26 42.62 39 0 0.00 IFI16 3428 genome.wustl.edu 37 1 159021793 159021793 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 159021793 159021793 G T SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known nonsense c.1990 p.G664* 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 8 9 52.94 43 0 0.00 IFI27L1 122509 genome.wustl.edu 37 14 94568898 94568898 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 94568898 94568898 C T SNP IFI27L1 ENST00000393115 human ensembl 70_37 +1 known missense c.299 p.S100L 0.000 NULL pfam_Interferon-induced_6-16 - no_errors IFI27L1 HGNC ENSG00000165948 22 10 31.25 73 0 0.00 IFI30 10437 genome.wustl.edu 37 19 18288689 18288689 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18288689 18288689 A G SNP IFI30 ENST00000407280 human ensembl 70_37 +1 known missense c.721 p.T241A 0.000 NULL pfam_Interferon-induced_GILT - no_errors IFI30 HGNC ENSG00000216490 39 19 32.76 47 0 0.00 IFI35 3430 genome.wustl.edu 37 17 41165087 41165087 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41165087 41165087 C T SNP IFI35 ENST00000438323 human ensembl 70_37 +1 known silent c.144 p.I48 0.001 pfam_Interferon_induced_35kDa_N pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 104 21 16.80 94 0 0.00 IFI35 3430 genome.wustl.edu 37 17 41165321 41165321 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41165321 41165321 C G SNP IFI35 ENST00000438323 human ensembl 70_37 +1 known missense c.306 p.I102M 0.000 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 43 15 25.86 47 0 0.00 IFI44 10561 genome.wustl.edu 37 1 79115876 79115876 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 79115876 79115876 G C SNP IFI44 ENST00000467790 human ensembl 70_37 +1 known rna NULL NULL 0.592 - - - no_errors IFI44 HGNC ENSG00000137965 24 18 42.86 42 0 0.00 IFI44 10561 genome.wustl.edu 37 1 79120726 79120726 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 79120726 79120726 G C SNP IFI44 ENST00000370747 human ensembl 70_37 +1 known missense c.522 p.L174F 0.005 NULL pfam_TLDc - no_errors IFI44 HGNC ENSG00000137965 90 26 22.41 111 0 0.00 IFI44L 10964 genome.wustl.edu 37 1 79106759 79106759 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 79106759 79106759 C T SNP IFI44L ENST00000370751 human ensembl 70_37 +1 known nonsense c.1102 p.Q368* 0.797 NULL NULL - no_errors IFI44L HGNC ENSG00000137959 27 5 15.62 38 0 0.00 IFIH1 64135 genome.wustl.edu 37 2 163124713 163124713 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 163124713 163124713 C A SNP IFIH1 ENST00000263642 human ensembl 70_37 -1 known missense c.2691 p.K897N 0.010 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 37 21 36.21 100 0 0.00 IFIH1 64135 genome.wustl.edu 37 2 163128822 163128822 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 163128822 163128822 C G SNP IFIH1 ENST00000263642 human ensembl 70_37 -1 known missense c.2530 p.E844Q 1.000 pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 33 6 15.00 26 0 0.00 IFIT1 3434 genome.wustl.edu 37 10 91163267 91163267 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 91163267 91163267 C G SNP IFIT1 ENST00000371804 human ensembl 70_37 +1 known nonsense c.1235 p.S412* 0.006 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 17 15 46.88 24 0 0.00 IFIT1B 439996 genome.wustl.edu 37 10 91143778 91143778 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 91143778 91143778 A G SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known silent c.708 p.G236 0.989 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 5 6 54.55 19 0 0.00 IFIT1B 439996 genome.wustl.edu 37 10 91143935 91143935 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 91143935 91143935 C T SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known missense c.865 p.H289Y 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 36 10 21.74 40 0 0.00 IFIT1B 439996 genome.wustl.edu 37 10 91144451 91144451 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 91144451 91144451 G C SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known missense c.1381 p.E461Q 0.994 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 23 12 34.29 36 0 0.00 IFIT2 3433 genome.wustl.edu 37 10 91066443 91066443 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 91066443 91066443 C T SNP IFIT2 ENST00000371826 human ensembl 70_37 +1 known missense c.730 p.P244S 0.921 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 67 30 30.93 77 0 0.00 IFIT2 3433 genome.wustl.edu 37 10 91066926 91066926 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 91066926 91066926 T G SNP IFIT2 ENST00000371826 human ensembl 70_37 +1 known missense c.1213 p.S405A 0.011 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 9 14 60.87 40 0 0.00 IFITM10 402778 genome.wustl.edu 37 11 1756472 1756472 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 1756472 1756472 C T SNP IFITM10 ENST00000482459 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors IFITM10 HGNC ENSG00000244242 35 16 31.37 34 0 0.00 IFITM10 402778 genome.wustl.edu 37 11 1769107 1769107 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1769107 1769107 C G SNP IFITM10 ENST00000340134 human ensembl 70_37 -1 known missense c.327 p.K109N 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors IFITM10 HGNC ENSG00000244242 13 9 40.91 14 0 0.00 IFITM3 10410 genome.wustl.edu 37 11 320663 320663 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 320663 320663 C G SNP IFITM3 ENST00000399808 human ensembl 70_37 -1 known missense c.151 p.E51Q 0.003 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors IFITM3 HGNC ENSG00000142089 77 31 28.70 63 0 0.00 IFLTD1 160492 genome.wustl.edu 37 12 25679784 25679784 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 25679784 25679784 G T SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known silent c.597 p.L199 0.986 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 34 4 10.53 46 0 0.00 IFLTD1 160492 genome.wustl.edu 37 12 25679808 25679808 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 25679808 25679808 T G SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known missense c.573 p.E191D 0.257 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 20 5 20.00 36 0 0.00 IFLTD1 160492 genome.wustl.edu 37 12 25699333 25699333 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 25699333 25699333 C G SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known missense c.466 p.E156Q 0.993 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 24 19 44.19 26 0 0.00 IFNA10 3446 genome.wustl.edu 37 9 21206637 21206637 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 21206637 21206637 G C SNP IFNA10 ENST00000357374 human ensembl 70_37 -1 known missense c.460 p.L154V 0.043 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 83 13 13.54 130 0 0.00 IFNA21 3452 genome.wustl.edu 37 9 21166471 21166471 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 21166471 21166471 G A SNP IFNA21 ENST00000380225 human ensembl 70_37 -1 known silent c.141 p.I47 0.015 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA21 HGNC ENSG00000137080 113 35 23.65 188 0 0.00 IFNA4 3441 genome.wustl.edu 37 9 21187205 21187205 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 21187205 21187205 G A SNP IFNA4 ENST00000421715 human ensembl 70_37 -1 known missense c.326 p.S109F 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA4 HGNC ENSG00000236637 35 20 36.36 53 0 0.00 IFNA5 3442 genome.wustl.edu 37 9 21304814 21304814 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 21304814 21304814 G A SNP IFNA5 ENST00000259555 human ensembl 70_37 -1 known nonsense c.442 p.Q148* 0.415 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA5 HGNC ENSG00000147873 96 22 18.64 93 0 0.00 IFNA6 3443 genome.wustl.edu 37 9 21350317 21350317 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 21350317 21350317 T G SNP IFNA6 ENST00000380210 human ensembl 70_37 -1 known nonstop c.570 p.*190Y 0.019 NULL pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA6 HGNC ENSG00000120235 38 21 35.59 79 0 0.00 IFNA8 3445 genome.wustl.edu 37 9 21409239 21409239 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 21409239 21409239 C T SNP IFNA8 ENST00000380205 human ensembl 70_37 +1 known silent c.64 p.L22 0.999 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC ENSG00000120242 82 21 20.39 64 0 0.00 IFNA8 3445 genome.wustl.edu 37 9 21409527 21409527 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 21409527 21409527 G A SNP IFNA8 ENST00000380205 human ensembl 70_37 +1 known missense c.352 p.D118N 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC ENSG00000120242 140 21 13.04 111 0 0.00 IFNAR1 3454 genome.wustl.edu 37 21 34715718 34715718 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 21 34715718 34715718 C T SNP IFNAR1 ENST00000270139 human ensembl 70_37 +1 known missense c.521 p.S174L 0.832 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 24 3 11.11 32 0 0.00 IFNAR1 3454 genome.wustl.edu 37 21 34721581 34721581 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 21 34721581 34721581 G C SNP IFNAR1 ENST00000270139 human ensembl 70_37 +1 known missense c.973 p.D325H 0.000 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 96 11 10.28 113 0 0.00 IFNAR1 3454 genome.wustl.edu 37 21 34727805 34727805 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 34727805 34727805 G A SNP IFNAR1 ENST00000270139 human ensembl 70_37 +1 known missense c.1624 p.D542N 0.985 pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 68 40 37.04 83 0 0.00 IFNAR2 3455 genome.wustl.edu 37 21 34635430 34635430 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 34635430 34635430 G C SNP IFNAR2 ENST00000342136 human ensembl 70_37 +1 known missense c.1173 p.L391F 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 17 4 19.05 23 0 0.00 IFNAR2 3455 genome.wustl.edu 37 21 34635553 34635553 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 34635553 34635553 G C SNP IFNAR2 ENST00000342136 human ensembl 70_37 +1 known missense c.1296 p.L432F 0.370 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 52 10 16.13 68 0 0.00 IFNG 3458 genome.wustl.edu 37 12 68553365 68553365 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 68553365 68553365 G C SNP IFNG ENST00000229135 human ensembl 70_37 -1 known missense c.31 p.Q11E 0.715 pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC ENSG00000111537 41 17 29.31 40 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137519179 137519179 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 137519179 137519179 C A SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.1459 p.E487* 0.020 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 10 7 38.89 25 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137519504 137519505 + Frame_Shift_Ins INS - - CT TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 137519504 137519505 - CT INS IFNGR1 ENST00000367739 human ensembl 70_37 -1 known frame_shift_ins c.1134_1133 p.S378fs 0.036:0.000 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 45 10 18.18 56 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137519721 137519721 + Nonsense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 137519721 137519721 G C SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.199 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 23 8 25.81 72 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137519721 137519721 + Nonsense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 137519721 137519721 G T SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.199 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 6 17 73.91 38 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137525576 137525576 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 137525576 137525576 G A SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known missense c.439 p.H147Y 0.256 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 26 25 48.08 37 0 0.00 IFNGR1 3459 genome.wustl.edu 37 6 137527314 137527314 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 137527314 137527314 G C SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known missense c.332 p.S111C 0.985 superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 13 7 35.00 38 0 0.00 IFNGR2 3460 genome.wustl.edu 37 21 34783822 34783822 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 34783822 34783822 C G SNP IFNGR2 ENST00000439213 human ensembl 70_37 +1 known missense c.202 p.Q68E 0.000 NULL NULL - no_errors IFNGR2 HGNC ENSG00000159128 37 14 27.45 37 0 0.00 IFNGR2 3460 genome.wustl.edu 37 21 34799326 34799326 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 21 34799326 34799326 G T SNP IFNGR2 ENST00000290219 human ensembl 70_37 +1 known missense c.548 p.G183V 0.000 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC ENSG00000159128 61 8 11.59 66 0 0.00 IFNGR2 3460 genome.wustl.edu 37 21 34804527 34804528 + Frame_Shift_Ins INS - - AA TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 21 34804527 34804528 - AA INS IFNGR2 ENST00000290219 human ensembl 70_37 +1 known frame_shift_ins c.605_606 p.P204fs 0.004:0.000 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC ENSG00000159128 72 46 38.98 196 0 0.00 IFRD2 7866 genome.wustl.edu 37 3 50326103 50326103 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 50326103 50326103 C G SNP IFRD2 ENST00000336089 human ensembl 70_37 -1 known missense c.1561 p.E521Q 1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 11 10 47.62 8 0 0.00 IFRD2 7866 genome.wustl.edu 37 3 50327471 50327471 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50327471 50327471 G A SNP IFRD2 ENST00000336089 human ensembl 70_37 -1 known silent c.933 p.L311 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 28 9 24.32 38 0 0.00 IFT122 55764 genome.wustl.edu 37 3 129200465 129200465 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129200465 129200465 G C SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known missense c.1734 p.K578N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 55 19 25.68 79 0 0.00 IFT122 55764 genome.wustl.edu 37 3 129200485 129200485 + Missense_Mutation SNP A A T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 129200485 129200485 A T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known missense c.1754 p.E585V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 114 20 14.93 49 0 0.00 IFT122 55764 genome.wustl.edu 37 3 129234393 129234393 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 129234393 129234393 C T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known silent c.3369 p.N1123 0.566 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 46 29 38.67 78 0 0.00 IFT122 55764 genome.wustl.edu 37 3 129236334 129236334 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 129236334 129236334 C T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known silent c.3441 p.F1147 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 108 33 23.40 95 0 0.00 IFT140 9742 genome.wustl.edu 37 16 1568328 1568328 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1568328 1568328 G C SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known missense c.4071 p.I1357M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 35 9 20.45 21 0 0.00 IFT140 9742 genome.wustl.edu 37 16 1573871 1573871 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 1573871 1573871 C G SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known missense c.3228 p.E1076D 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 76 14 15.56 83 0 0.00 IFT140 9742 genome.wustl.edu 37 16 1614148 1614148 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1614148 1614148 C G SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known silent c.1917 p.V639 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 47 13 21.67 26 0 0.00 IFT140 9742 genome.wustl.edu 37 16 1642482 1642482 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 1642482 1642482 G C SNP IFT140 ENST00000426508 human ensembl 70_37 -1 known silent c.477 p.L159 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 57 16 21.92 34 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27669207 27669207 + Missense_Mutation SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 27669207 27669207 T C SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.4675 p.R1559G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 49 11 18.33 53 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27679448 27679448 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27679448 27679448 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.3301 p.E1101K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 20 17 45.95 32 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27680517 27680517 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 27680517 27680517 C G SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.3217 p.E1073Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 83 48 35.82 106 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27684268 27684268 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 27684268 27684268 G A SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known silent c.2310 p.I770 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 19 6 24.00 39 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27700992 27700992 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27700992 27700992 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.1037 p.R346Q 0.993 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 29 7 19.44 37 0 0.00 IFT172 26160 genome.wustl.edu 37 2 27708261 27708261 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 27708261 27708261 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.149 p.R50K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 18 9 33.33 27 0 0.00 IFT27 11020 genome.wustl.edu 37 22 37171857 37171857 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37171857 37171857 G C SNP IFT27 ENST00000476548 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IFT27 HGNC ENSG00000100360 58 7 10.77 34 0 0.00 IFT27 11020 genome.wustl.edu 37 22 37172223 37172223 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37172223 37172223 C G SNP IFT27 ENST00000476548 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors IFT27 HGNC ENSG00000100360 24 9 27.27 24 0 0.00 IFT43 112752 genome.wustl.edu 37 14 76549851 76549851 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 76549851 76549851 G T SNP IFT43 ENST00000238628 human ensembl 70_37 +1 known missense c.573 p.E191D 1.000 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 20 4 16.67 52 0 0.00 IFT46 56912 genome.wustl.edu 37 11 118415714 118415714 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 118415714 118415714 G C SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.985 p.L329V 0.998 NULL pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 41 16 28.07 51 0 0.00 IFT46 56912 genome.wustl.edu 37 11 118425278 118425278 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 118425278 118425278 C T SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.532 p.D178N 1.000 pfam_Intraflagellar_transp_cmplxB pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 51 22 30.14 67 0 0.00 IFT46 56912 genome.wustl.edu 37 11 118425999 118425999 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 118425999 118425999 G A SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.377 p.S126F 0.997 pfam_Intraflagellar_transp_cmplxB pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 33 16 32.65 39 0 0.00 IFT52 51098 genome.wustl.edu 37 20 42223455 42223455 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 42223455 42223455 G C SNP IFT52 ENST00000373030 human ensembl 70_37 +1 known missense c.117 p.Q39H 1.000 pfam_ABC_transp_unknown pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 39 8 17.02 71 0 0.00 IFT52 51098 genome.wustl.edu 37 20 42247631 42247631 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 20 42247631 42247631 C G SNP IFT52 ENST00000373030 human ensembl 70_37 +1 known missense c.664 p.Q222E 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 8 15 65.22 49 0 0.00 IFT57 55081 genome.wustl.edu 37 3 107932819 107932819 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 107932819 107932819 C T SNP IFT57 ENST00000264538 human ensembl 70_37 -1 known missense c.544 p.D182N 1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 45 19 29.69 37 0 0.00 IFT57 55081 genome.wustl.edu 37 3 107941091 107941091 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 107941091 107941091 C T SNP IFT57 ENST00000264538 human ensembl 70_37 -1 known missense c.79 p.E27K 0.965 NULL pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 60 9 13.04 63 0 0.00 IFT74 80173 genome.wustl.edu 37 9 27062636 27062636 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 27062636 27062636 G C SNP IFT74 ENST00000380062 human ensembl 70_37 +1 known missense c.1705 p.E569Q 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 23 10 30.30 12 0 0.00 IFT81 28981 genome.wustl.edu 37 12 110565221 110565221 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 110565221 110565221 C G SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known silent c.36 p.L12 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 35 6 14.63 42 0 0.00 IFT81 28981 genome.wustl.edu 37 12 110628815 110628815 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 110628815 110628815 G A SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known missense c.1429 p.E477K 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 48 25 34.25 94 0 0.00 IFT81 28981 genome.wustl.edu 37 12 110630459 110630459 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 110630459 110630459 C T SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known missense c.1505 p.S502L 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 30 8 21.05 29 0 0.00 IGBP1 3476 genome.wustl.edu 37 X 69353869 69353869 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 69353869 69353869 C T SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known silent c.72 p.D24 0.085 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 19 10 34.48 18 0 0.00 IGBP1 3476 genome.wustl.edu 37 X 69353869 69353869 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 69353869 69353869 C T SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known silent c.72 p.D24 0.085 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 27 22 44.90 32 0 0.00 IGBP1 3476 genome.wustl.edu 37 X 69368661 69368661 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 69368661 69368661 C G SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known missense c.729 p.F243L 0.970 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 29 46 61.33 59 0 0.00 IGDCC3 9543 genome.wustl.edu 37 15 65621255 65621255 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 15 65621255 65621255 C T SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.2437 p.E813K 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 41 12 22.64 73 0 0.00 IGDCC3 9543 genome.wustl.edu 37 15 65621808 65621808 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 65621808 65621808 C T SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.2125 p.E709K 0.789 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 34 29 46.03 89 0 0.00 IGDCC3 9543 genome.wustl.edu 37 15 65628166 65628166 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 65628166 65628166 C G SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 34 29 46.03 26 0 0.00 IGDCC3 9543 genome.wustl.edu 37 15 65628166 65628166 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 65628166 65628166 C G SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 95 92 48.94 136 0 0.00 IGDCC4 57722 genome.wustl.edu 37 15 65676429 65676429 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 65676429 65676429 C T SNP IGDCC4 ENST00000352385 human ensembl 70_37 -1 novel missense c.3671 p.G1224E 0.839 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC ENSG00000103742 51 33 39.29 102 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99434640 99434640 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99434640 99434640 G C SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.727 p.D243H 0.991 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 75 20 21.05 41 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99434645 99434645 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 99434645 99434645 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.732 p.N244K 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 76 20 20.83 42 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99442728 99442728 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99442728 99442728 G A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.1125 p.E375 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 31 103 76.87 68 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99442734 99442734 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99442734 99442734 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.1131 p.F377L 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 33 110 76.92 73 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99465401 99465401 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 15 99465401 99465401 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2226 p.V742 0.119 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 44 6 12.00 36 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99467897 99467897 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 99467897 99467897 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2766 p.F922 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 48 39 44.83 48 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99472812 99472812 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 99472812 99472812 G A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2808 p.L936 0.880 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 54 25 31.65 87 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99482579 99482579 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99482579 99482579 C G SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3447 p.V1149 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 22 53 70.67 40 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99500353 99500353 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 99500353 99500353 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3786 p.I1262 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 83 51 38.06 126 0 0.00 IGF1R 3480 genome.wustl.edu 37 15 99500356 99500356 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 99500356 99500356 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3789 p.I1263 0.988 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 86 46 34.85 130 0 0.00 IGF2 3481 genome.wustl.edu 37 11 2154262 2154262 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 2154262 2154262 G T SNP IGF2 ENST00000434045 human ensembl 70_37 -1 known silent c.666 p.P222 0.097 pfam_IGF2_C pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 24 4 14.29 29 0 0.00 IGF2-AS 51214 genome.wustl.edu 37 11 2168806 2168806 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 2168806 2168806 C T SNP IGF2-AS ENST00000381361 human ensembl 70_37 +1 known rna NULL NULL 0.106 - - - no_errors IGF2-AS HGNC ENSG00000099869 17 4 19.05 19 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47074977 47074977 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 47074977 47074977 C T SNP IGF2BP1 ENST00000510023 human ensembl 70_37 +1 putative rna NULL NULL 0.661 - - - no_errors IGF2BP1 HGNC ENSG00000159217 30 13 30.23 58 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47075053 47075053 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 47075053 47075053 C T SNP IGF2BP1 ENST00000510023 human ensembl 70_37 +1 putative rna NULL NULL 0.055 - - - no_errors IGF2BP1 HGNC ENSG00000159217 35 23 39.66 69 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47103856 47103856 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 47103856 47103856 G C SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.314 p.G105A 0.993 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 45 8 15.09 59 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47119632 47119632 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 47119632 47119632 G A SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 51 26 33.77 68 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47121448 47121448 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 47121448 47121448 G C SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.1320 p.K440N 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 67 10 12.99 70 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47123299 47123299 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 47123299 47123299 T G SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known silent c.1443 p.G481 0.922 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 36 15 28.85 82 0 0.00 IGF2BP1 10642 genome.wustl.edu 37 17 47123357 47123357 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 47123357 47123357 C T SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.1501 p.R501W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 50 13 20.63 50 0 0.00 IGF2BP2 10644 genome.wustl.edu 37 3 185375096 185375096 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 185375096 185375096 C T SNP IGF2BP2 ENST00000382199 human ensembl 70_37 -1 known missense c.1364 p.R455K 0.990 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 67 13 16.25 34 0 0.00 IGF2BP2 10644 genome.wustl.edu 37 3 185393021 185393022 + RNA DEL GC GC - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 185393021 185393022 GC - DEL IGF2BP2 ENST00000496495 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.057 - - - no_errors IGF2BP2 HGNC ENSG00000073792 49 17 25.76 49 0 0.00 IGF2BP2 10644 genome.wustl.edu 37 3 185407163 185407163 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 185407163 185407163 G A SNP IGF2BP2 ENST00000382199 human ensembl 70_37 -1 known silent c.657 p.I219 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 58 11 15.94 50 0 0.00 IGF2BP3 10643 genome.wustl.edu 37 7 23353181 23353181 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 23353181 23353181 G C SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known missense c.1487 p.S496C 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 97 12 11.01 114 0 0.00 IGF2BP3 10643 genome.wustl.edu 37 7 23353262 23353262 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 23353262 23353262 C A SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known missense c.1406 p.R469I 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 15 15 50.00 72 0 0.00 IGF2BP3 10643 genome.wustl.edu 37 7 23387308 23387308 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 23387308 23387308 C T SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known silent c.729 p.S243 0.031 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 8 20 71.43 34 0 0.00 IGF2R 3482 genome.wustl.edu 37 6 160431704 160431705 + RNA INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 160431704 160431705 - T INS IGF2R ENST00000464636 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors IGF2R HGNC ENSG00000197081 23 9 28.12 25 0 0.00 IGF2R 3482 genome.wustl.edu 37 6 160431704 160431705 + RNA INS - - T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 160431704 160431705 - T INS IGF2R ENST00000464636 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors IGF2R HGNC ENSG00000197081 19 5 20.83 30 0 0.00 IGF2R 3482 genome.wustl.edu 37 6 160466886 160466886 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 160466886 160466886 G C SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.1875 p.E625D 0.667 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 17 5 22.73 39 0 0.00 IGF2R 3482 genome.wustl.edu 37 6 160479062 160479062 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 160479062 160479062 C G SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.2804 p.S935C 0.975 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 69 35 33.65 75 0 0.00 IGF2R 3482 genome.wustl.edu 37 6 160485837 160485837 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 160485837 160485837 C T SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.4019 p.P1340L 0.641 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 26 17 39.53 73 0 0.00 IGFALS 3483 genome.wustl.edu 37 16 1841503 1841503 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 1841503 1841503 G A SNP IGFALS ENST00000415638 human ensembl 70_37 -1 known missense c.1030 p.R344W 0.989 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 33 12 26.67 54 0 0.00 IGFL1 374918 genome.wustl.edu 37 19 46733399 46733399 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46733399 46733399 C T SNP IGFL1 ENST00000437936 human ensembl 70_37 +1 known silent c.60 p.L20 0.005 NULL NULL - no_errors IGFL1 HGNC ENSG00000188293 41 21 33.87 70 0 0.00 IGFL3 388555 genome.wustl.edu 37 19 46627226 46627226 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 46627226 46627226 G A SNP IGFL3 ENST00000341415 human ensembl 70_37 -1 known silent c.267 p.P89 0.009 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 22 19 46.34 45 0 0.00 IGFL3 388555 genome.wustl.edu 37 19 46627378 46627378 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 46627378 46627378 G A SNP IGFL3 ENST00000341415 human ensembl 70_37 -1 known missense c.115 p.P39S 0.231 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 13 3 18.75 24 0 0.00 IGFL4 444882 genome.wustl.edu 37 19 46543439 46543439 + Silent SNP G G T TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 19 46543439 46543439 G T SNP IGFL4 ENST00000377697 human ensembl 70_37 -1 known silent c.306 p.S102 0.001 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 36 4 10.00 15 0 0.00 IGFL4 444882 genome.wustl.edu 37 19 46543814 46543814 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 46543814 46543814 A G SNP IGFL4 ENST00000377697 human ensembl 70_37 -1 known missense c.32 p.I11T 0.000 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 69 15 17.86 102 0 0.00 IGFLR1 79713 genome.wustl.edu 37 19 36231340 36231340 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 36231340 36231340 C T SNP IGFLR1 ENST00000246532 human ensembl 70_37 -1 known missense c.283 p.G95R 0.204 NULL superfamily_DEATH-like - no_errors IGFLR1 HGNC ENSG00000126246 30 5 14.29 25 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201169419 201169419 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 201169419 201169419 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known silent c.513 p.L171 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 43 19 30.65 29 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201175672 201175672 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201175672 201175672 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.1651 p.E551K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 23 8 25.81 26 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201176007 201176007 + Silent SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 201176007 201176007 A G SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known silent c.1986 p.G662 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 31 14 31.11 27 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201176060 201176060 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 201176060 201176060 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.2039 p.G680E 0.032 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 18 16 47.06 20 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201177197 201177197 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 201177197 201177197 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3176 p.S1059F 0.005 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 24 8 25.00 24 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201177598 201177598 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 201177598 201177598 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3577 p.A1193T 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 31 8 20.51 26 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201177907 201177907 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201177907 201177907 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3886 p.E1296K 0.009 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 30 12 28.57 34 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201178796 201178796 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201178796 201178796 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.4775 p.G1592E 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 196 38 16.24 188 1 0.52 IGFN1 91156 genome.wustl.edu 37 1 201180634 201180634 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201180634 201180634 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.6613 p.E2205K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 67 43 39.09 101 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201180949 201180949 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 201180949 201180949 G C SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.6928 p.D2310H 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 47 11 18.97 47 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201181630 201181630 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 201181630 201181630 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.7609 p.E2537K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 45 7 13.46 60 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201182516 201182516 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 201182516 201182516 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.8495 p.R2832K 0.026 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 25 11 30.56 31 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201184859 201184859 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 201184859 201184859 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.9188 p.T3063M 0.460 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 18 27 60.00 42 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201185875 201185875 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 201185875 201185875 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.9589 p.P3197S 0.936 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 60 11 15.49 85 0 0.00 IGFN1 91156 genome.wustl.edu 37 1 201195081 201195081 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201195081 201195081 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.10616 p.S3539L 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 36 14 28.00 44 0 0.00 IGHMBP2 3508 genome.wustl.edu 37 11 68701260 68701260 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 68701260 68701260 C T SNP IGHMBP2 ENST00000541229 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors IGHMBP2 HGNC ENSG00000132740 58 25 30.12 88 0 0.00 IGHMBP2 3508 genome.wustl.edu 37 11 68702826 68702826 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 68702826 68702826 C T SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known silent c.1692 p.V564 0.098 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 28 13 31.71 83 0 0.00 IGHMBP2 3508 genome.wustl.edu 37 11 68703761 68703761 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68703761 68703761 C A SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known silent c.1813 p.R605 0.973 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 30 4 11.76 32 0 0.00 IGHMBP2 3508 genome.wustl.edu 37 11 68704029 68704029 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 68704029 68704029 G A SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known missense c.2081 p.R694Q 0.037 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 50 6 10.71 45 0 0.00 IGHMBP2 3508 genome.wustl.edu 37 11 68704244 68704244 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 68704244 68704244 G A SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known missense c.2296 p.G766R 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 30 13 30.23 57 0 0.00 IGHV1OR21-1 390530 genome.wustl.edu 37 21 10862953 10862953 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 21 10862953 10862953 C G SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known missense c.249 p.F83L 0.034 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV1OR21-1 HGNC ENSG00000169861 149 19 11.31 264 0 0.00 IGHV3OR16-6 647187 genome.wustl.edu 37 16 32926862 32926862 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 32926862 32926862 G A SNP IGHV3OR16-6 ENST00000568775 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors IGHV3OR16-6 HGNC ENSG00000260652 99 29 22.66 86 0 0.00 IGHV4-59 28392 genome.wustl.edu 37 14 107083491 107083491 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 107083491 107083491 G C SNP IGHV4-59 ENST00000455737 human ensembl 70_37 -1 known missense c.113 p.S38C 0.900 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV4-59 HGNC ENSG00000224373 130 15 10.34 188 0 0.00 IGHV4-59 28392 genome.wustl.edu 37 14 107083548 107083548 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 107083548 107083548 G C SNP IGHV4-59 ENST00000455737 human ensembl 70_37 -1 known missense c.56 p.S19C 0.084 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV4-59 HGNC ENSG00000224373 46 42 47.73 94 0 0.00 IGLL5 100423062 genome.wustl.edu 37 22 23237847 23237847 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 22 23237847 23237847 G T SNP IGLL5 ENST00000532223 human ensembl 70_37 +1 known missense c.621 p.K207N 0.885 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors IGLL5 HGNC ENSG00000254709 39 12 23.53 77 0 0.00 IGLON5 402665 genome.wustl.edu 37 19 51831094 51831094 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 51831094 51831094 C T SNP IGLON5 ENST00000270642 human ensembl 70_37 +1 known silent c.876 p.R292 0.991 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGLON5 HGNC ENSG00000142549 0 6 100.00 12 0 0.00 IGLV4-3 28786 genome.wustl.edu 37 22 23213912 23213912 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 23213912 23213912 G A SNP IGLV4-3 ENST00000390318 human ensembl 70_37 +1 known silent c.69 p.L23 0.197 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGLV4-3 HGNC ENSG00000211672 26 8 23.53 32 0 0.00 IGSF1 3547 genome.wustl.edu 37 X 130409550 130409550 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 130409550 130409550 G C SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.3101 p.S1034C 0.949 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 33 12 26.09 87 0 0.00 IGSF1 3547 genome.wustl.edu 37 X 130410033 130410033 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 130410033 130410033 C G SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.2813 p.G938A 0.011 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 113 17 13.08 143 0 0.00 IGSF1 3547 genome.wustl.edu 37 X 130411002 130411002 + Missense_Mutation SNP C C A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 130411002 130411002 C A SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.2534 p.G845V 0.812 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 123 25 16.89 95 0 0.00 IGSF1 3547 genome.wustl.edu 37 X 130412691 130412691 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 130412691 130412691 C T SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known nonsense c.1800 p.W600* 1.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 57 16 21.92 85 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151154847 151154847 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 151154847 151154847 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.7502 p.R2501T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 44 9 16.98 32 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151154914 151154914 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151154914 151154914 T G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.7435 p.I2479L 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 18 8 30.77 63 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151155402 151155402 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 151155402 151155402 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6947 p.R2316Q 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 24 9 27.27 47 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151155421 151155421 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151155421 151155421 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6928 p.D2310N 0.973 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 24 4 14.29 41 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151155959 151155959 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 151155959 151155959 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6390 p.M2130I 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 94 20 17.54 51 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151158441 151158441 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151158441 151158441 A C SNP IGSF10 ENST00000495443 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors IGSF10 HGNC ENSG00000152580 31 22 41.51 61 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151161083 151161083 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151161083 151161083 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known silent c.5652 p.V1884 0.119 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 19 12 38.71 36 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151163396 151163396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151163396 151163396 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.4373 p.R1458T 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 82 59 41.84 142 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151164886 151164886 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 151164886 151164886 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known silent c.2883 p.V961 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 114 26 18.44 59 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151165248 151165248 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151165248 151165248 C A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known nonsense c.2521 p.E841* 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 22 15 40.54 75 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151165584 151165584 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 151165584 151165584 G A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.2185 p.R729C 0.008 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 89 28 23.93 52 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151166190 151166190 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 151166190 151166190 G A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.1579 p.R527W 0.985 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 43 25 36.76 56 0 0.00 IGSF10 285313 genome.wustl.edu 37 3 151166624 151166624 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 151166624 151166624 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.1145 p.S382T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 59 7 10.61 40 0 0.00 IGSF11 152404 genome.wustl.edu 37 3 118621521 118621521 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 118621521 118621521 G A SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.1142 p.S381L 0.515 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC ENSG00000144847 76 26 25.49 74 0 0.00 IGSF11 152404 genome.wustl.edu 37 3 118647442 118647442 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 118647442 118647442 G C SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known nonsense c.338 p.S113* 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC ENSG00000144847 59 12 16.90 47 0 0.00 IGSF11 152404 genome.wustl.edu 37 3 118647512 118647512 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 118647512 118647512 C T SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.268 p.G90S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC ENSG00000144847 29 14 32.56 37 0 0.00 IGSF11 152404 genome.wustl.edu 37 3 118647512 118647512 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 118647512 118647512 C T SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.268 p.G90S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC ENSG00000144847 44 16 26.67 42 0 0.00 IGSF21 84966 genome.wustl.edu 37 1 18703404 18703404 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 18703404 18703404 C T SNP IGSF21 ENST00000251296 human ensembl 70_37 +1 known silent c.1212 p.A404 0.171 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF21 HGNC ENSG00000117154 30 8 20.51 37 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18727641 18727641 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 18727641 18727641 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known silent c.3633 p.H1211 0.038 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 103 13 11.21 110 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18729451 18729451 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 18729451 18729451 G T SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.3180 p.F1060L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 33 4 10.81 40 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18731108 18731108 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18731108 18731108 C T SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.2824 p.E942K 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 54 23 29.49 60 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18733675 18733675 + Silent SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 18733675 18733675 C G SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known silent c.2352 p.V784 0.099 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 43 6 12.24 54 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18733886 18733886 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 18733886 18733886 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.2141 p.S714L 0.018 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 53 39 42.39 58 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18736049 18736049 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 18736049 18736049 C G SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.1654 p.E552Q 0.999 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 58 109 65.27 195 0 0.00 IGSF22 283284 genome.wustl.edu 37 11 18743564 18743564 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 18743564 18743564 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.134 p.S45L 0.141 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 44 25 36.23 96 0 0.00 IGSF3 3321 genome.wustl.edu 37 1 117122285 117122286 + In_Frame_Ins INS - - TCC TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 117122285 117122286 - TCC INS IGSF3 ENST00000318837 human ensembl 70_37 -1 known in_frame_ins c.3123_3122 p.1041in_frame_insE 0.040:0.030 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF3 HGNC ENSG00000143061 25 6 19.35 21 0 0.00 IGSF8 93185 genome.wustl.edu 37 1 160062257 160062257 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 160062257 160062257 C T SNP IGSF8 ENST00000314485 human ensembl 70_37 -1 known missense c.1541 p.G514E 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC ENSG00000162729 41 16 28.07 54 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159897081 159897081 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 159897081 159897081 G - DEL IGSF9 ENST00000476102 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors IGSF9 HGNC ENSG00000085552 38 9 19.15 65 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159897978 159897978 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 159897978 159897978 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.3200 p.R1067Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 13 12 48.00 22 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159898128 159898128 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 159898128 159898128 G A SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.3050 p.P1017L 0.895 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 6 15 71.43 12 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159898366 159898366 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 159898366 159898366 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.2812 p.D938N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 18 2 10.00 18 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159899721 159899721 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159899721 159899721 G A SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known silent c.2109 p.F703 0.926 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 50 11 18.03 48 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159900133 159900133 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 159900133 159900133 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.1910 p.R637Q 0.968 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 154 23 12.99 132 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159901343 159901343 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 159901343 159901343 G C SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known silent c.1413 p.L471 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 58 34 36.96 74 0 0.00 IGSF9 57549 genome.wustl.edu 37 1 159901458 159901458 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 159901458 159901458 C T SNP IGSF9 ENST00000496645 human ensembl 70_37 -1 known rna NULL NULL 0.897 - - - no_errors IGSF9 HGNC ENSG00000085552 41 13 24.07 41 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133790132 133790132 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 133790132 133790132 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.3488 p.T1163I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 45 8 15.09 58 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133791101 133791101 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 133791101 133791101 T C SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2519 p.E840G 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 59 9 13.04 91 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 133791120 133791120 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2500 p.V834M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 27 6 18.18 21 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 133791120 133791120 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2500 p.V834M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 46 22 31.88 91 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133801384 133801384 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 133801384 133801384 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known silent c.1332 p.A444 0.022 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 20 19 47.50 32 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133801565 133801565 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 133801565 133801565 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known silent c.1236 p.A412 0.913 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 16 20 55.56 71 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133805598 133805598 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 133805598 133805598 T C SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.881 p.K294R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 20 7 25.93 52 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133807325 133807325 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 133807325 133807325 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known nonsense c.625 p.R209* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 51 25 32.89 81 0 0.00 IGSF9B 22997 genome.wustl.edu 37 11 133816074 133816074 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 133816074 133816074 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 48 13 21.31 50 0 0.00 IHH 3549 genome.wustl.edu 37 2 219920323 219920323 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 219920323 219920323 T C SNP IHH ENST00000295731 human ensembl 70_37 -1 known missense c.842 p.D281G 0.960 pfam_Hint_dom,smart_Hint_dom_N,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog - no_errors IHH HGNC ENSG00000163501 70 8 10.26 87 0 0.00 IK 3550 genome.wustl.edu 37 5 140038676 140038676 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140038676 140038676 G A SNP IK ENST00000417647 human ensembl 70_37 +1 known missense c.1103 p.R368Q 1.000 NULL pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 30 14 31.82 40 0 0.00 IK 3550 genome.wustl.edu 37 5 140041772 140041772 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140041772 140041772 G A SNP IK ENST00000417647 human ensembl 70_37 +1 known silent c.1620 p.E540 1.000 pfam_RED_C pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 52 18 25.71 61 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99008094 99008094 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 99008094 99008094 C T SNP IKBIP ENST00000393042 human ensembl 70_37 -1 known nonsense c.204 p.W68* 0.947 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 22 24 52.17 33 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99008106 99008106 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 99008106 99008106 C T SNP IKBIP ENST00000342502 human ensembl 70_37 -1 known missense c.310 p.E104K 0.938 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 22 23 51.11 34 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99019962 99019962 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99019962 99019962 C T SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 22 17 43.59 47 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99019972 99019972 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99019972 99019972 C T SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known silent c.870 p.L290 0.995 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 24 18 42.86 47 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99020013 99020013 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99020013 99020013 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.829 p.E277Q 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 18 11 37.93 41 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99020210 99020210 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99020210 99020210 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.632 p.R211T 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 33 16 32.65 49 0 0.00 IKBIP 121457 genome.wustl.edu 37 12 99020541 99020541 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 99020541 99020541 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.301 p.E101Q 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 21 10 32.26 23 0 0.00 IKBKAP 8518 genome.wustl.edu 37 9 111641013 111641013 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 111641013 111641013 C T SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known missense c.3590 p.R1197H 0.996 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 337 87 20.52 408 0 0.00 IKBKAP 8518 genome.wustl.edu 37 9 111660988 111660988 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 111660988 111660988 C G SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known missense c.2246 p.R749T 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 36 34 47.89 73 0 0.00 IKBKAP 8518 genome.wustl.edu 37 9 111668766 111668766 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 111668766 111668766 C T SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known splice_site c.1461-1 e13-1 1.000 - - - no_errors IKBKAP HGNC ENSG00000070061 62 12 16.22 89 0 0.00 IKBKB 3551 genome.wustl.edu 37 8 42174278 42174278 + Silent SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 8 42174278 42174278 G T SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known silent c.981 p.V327 0.332 superfamily_Kinase-like_dom,pfscan_Ubiquitin_supergroup pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 34 4 10.53 45 0 0.00 IKBKB 3551 genome.wustl.edu 37 8 42174305 42174305 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 42174305 42174305 G C SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known missense c.1008 p.L336F 0.966 pfscan_Ubiquitin_supergroup pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 42 5 10.64 41 0 0.00 IKBKB 3551 genome.wustl.edu 37 8 42177143 42177143 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 42177143 42177143 G T SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known missense c.1557 p.Q519H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 43 29 40.28 58 0 0.00 IKBKE 9641 genome.wustl.edu 37 1 206651130 206651130 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 206651130 206651130 C T SNP IKBKE ENST00000367120 human ensembl 70_37 +1 known missense c.740 p.A247V 0.978 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IKBKE HGNC ENSG00000143466 31 21 40.38 30 0 0.00 IKZF1 10320 genome.wustl.edu 37 7 50435616 50435617 + RNA INS - - A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 50435616 50435617 - A INS IKZF1 ENST00000492119 human ensembl 70_37 +1 putative rna NULL NULL 0.001:0.001 - - - no_errors IKZF1 HGNC ENSG00000185811 9 5 35.71 17 0 0.00 IKZF1 10320 genome.wustl.edu 37 7 50467665 50467665 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 50467665 50467665 G A SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known silent c.900 p.E300 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 22 3 12.00 41 0 0.00 IKZF1 10320 genome.wustl.edu 37 7 50468081 50468081 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 50468081 50468081 G A SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known missense c.1316 p.R439H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 38 10 20.83 47 0 0.00 IKZF1 10320 genome.wustl.edu 37 7 50468297 50468297 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 50468297 50468297 G C SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known missense c.1532 p.R511P 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 31 5 13.89 42 0 0.00 IKZF2 22807 genome.wustl.edu 37 2 213872482 213872482 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 213872482 213872482 C A SNP IKZF2 ENST00000434687 human ensembl 70_37 -1 known nonsense c.1183 p.E395* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 80 12 13.04 93 0 0.00 IKZF2 22807 genome.wustl.edu 37 2 213886824 213886824 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 213886824 213886824 C G SNP IKZF2 ENST00000434687 human ensembl 70_37 -1 known missense c.605 p.G202A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 52 6 10.34 51 0 0.00 IKZF2 22807 genome.wustl.edu 37 2 213921756 213921757 + Frame_Shift_Ins INS - - T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 213921756 213921757 - T INS IKZF2 ENST00000434687 human ensembl 70_37 -1 known frame_shift_ins c.207_206 p.D69fs 0.080:0.808 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 74 17 18.68 66 0 0.00 IKZF2 22807 genome.wustl.edu 37 2 214012328 214012328 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 214012328 214012328 G A SNP IKZF2 ENST00000442445 human ensembl 70_37 -1 putative silent c.261 p.Y87 1.000 NULL NULL - no_errors IKZF2 HGNC ENSG00000030419 37 25 40.32 41 0 0.00 IKZF5 64376 genome.wustl.edu 37 10 124758126 124758127 + Frame_Shift_Ins INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124758126 124758127 - T INS IKZF5 ENST00000368886 human ensembl 70_37 -1 known frame_shift_ins c.16_15 p.P5fs 1.000:0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 20 9 31.03 52 0 0.00 IL11 3589 genome.wustl.edu 37 19 55879861 55879861 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55879861 55879861 C T SNP IL11 ENST00000264563 human ensembl 70_37 -1 known missense c.257 p.G86E 0.979 pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian,prints_Interleukin-11 - no_errors IL11 HGNC ENSG00000095752 15 10 40.00 23 0 0.00 IL11RA 3590 genome.wustl.edu 37 9 34656836 34656836 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 34656836 34656836 G A SNP IL11RA ENST00000318041 human ensembl 70_37 +1 known missense c.262 p.D88N 0.823 smart_Ig_sub,pfscan_Ig-like superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL11RA HGNC ENSG00000137070 39 9 18.75 38 0 0.00 IL11RA 3590 genome.wustl.edu 37 9 34658549 34658549 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 34658549 34658549 G C SNP IL11RA ENST00000318041 human ensembl 70_37 +1 known missense c.679 p.E227Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL11RA HGNC ENSG00000137070 55 8 12.50 84 0 0.00 IL12A 3592 genome.wustl.edu 37 3 159707994 159707994 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 159707994 159707994 C T SNP IL12A ENST00000305579 human ensembl 70_37 +1 known silent c.159 p.L53 0.000 pfam_IL12 pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 29 9 23.68 58 0 0.00 IL12A 3592 genome.wustl.edu 37 3 159710811 159710811 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 159710811 159710811 C G SNP IL12A ENST00000305579 human ensembl 70_37 +1 known missense c.277 p.L93V 0.166 pfam_IL12,superfamily_4_helix_cytokine-like_core pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 19 6 24.00 37 0 0.00 IL12A 3592 genome.wustl.edu 37 3 159711269 159711269 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 159711269 159711269 C G SNP IL12A ENST00000305579 human ensembl 70_37 +1 known missense c.410 p.S137C 0.430 pfam_IL12,superfamily_4_helix_cytokine-like_core pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 31 4 11.43 46 0 0.00 IL12B 3593 genome.wustl.edu 37 5 158750066 158750066 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 158750066 158750066 C G SNP IL12B ENST00000231228 human ensembl 70_37 -1 known missense c.360 p.Q120H 1.000 superfamily_Fibronectin_type3,pirsf_IL_12_beta pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta - no_errors IL12B HGNC ENSG00000113302 23 8 25.81 20 0 0.00 IL12B 3593 genome.wustl.edu 37 5 158750115 158750117 + In_Frame_Del DEL AGC AGC - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 5 158750115 158750117 AGC - DEL IL12B ENST00000231228 human ensembl 70_37 -1 known in_frame_del c.311_309 p.L104in_frame_del 1.000:0.998:0.990 pirsf_IL_12_beta pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta - no_errors IL12B HGNC ENSG00000113302 31 11 26.19 46 0 0.00 IL12RB1 3594 genome.wustl.edu 37 19 18179257 18179257 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 18179257 18179257 G A SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known silent c.1269 p.H423 0.260 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 68 14 17.07 62 0 0.00 IL12RB1 3594 genome.wustl.edu 37 19 18184372 18184372 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18184372 18184372 C T SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known silent c.738 p.E246 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 10 3 23.08 22 0 0.00 IL12RB1 3594 genome.wustl.edu 37 19 18194269 18194269 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 18194269 18194269 C A SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known missense c.97 p.D33Y 0.755 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 18 15 45.45 21 0 0.00 IL12RB2 3595 genome.wustl.edu 37 1 67787470 67787470 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 67787470 67787470 C A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known missense c.262 p.Q88K 0.665 pfam_IgC2-like_lig-bd pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 26 3 10.34 40 0 0.00 IL12RB2 3595 genome.wustl.edu 37 1 67861460 67861460 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 67861460 67861460 G A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known silent c.2277 p.E759 0.055 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 42 12 22.22 40 0 0.00 IL12RB2 3595 genome.wustl.edu 37 1 67861644 67861644 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 67861644 67861644 G A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known missense c.2461 p.E821K 0.820 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 89 27 23.28 79 0 0.00 IL13RA1 3597 genome.wustl.edu 37 X 117900860 117900860 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 117900860 117900860 C T SNP IL13RA1 ENST00000371666 human ensembl 70_37 +1 known silent c.930 p.V310 0.997 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 41 11 21.15 65 0 0.00 IL13RA1 3597 genome.wustl.edu 37 X 117925733 117925733 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117925733 117925733 G A SNP IL13RA1 ENST00000371666 human ensembl 70_37 +1 known silent c.1200 p.K400 1.000 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 51 21 29.17 66 0 0.00 IL13RA2 3598 genome.wustl.edu 37 X 114245323 114245323 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 114245323 114245323 C T SNP IL13RA2 ENST00000243213 human ensembl 70_37 -1 known missense c.590 p.C197Y 0.991 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 193 22 10.23 165 0 0.00 IL13RA2 3598 genome.wustl.edu 37 X 114251854 114251854 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 114251854 114251854 G C SNP IL13RA2 ENST00000468224 human ensembl 70_37 -1 known rna NULL NULL 0.037 - - - no_errors IL13RA2 HGNC ENSG00000123496 34 23 40.35 97 0 0.00 IL15 3600 genome.wustl.edu 37 4 142643137 142643137 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 142643137 142643137 G C SNP IL15 ENST00000296545 human ensembl 70_37 +1 known missense c.171 p.L57F 0.612 pfam_Interleukin_15-like pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15 - no_errors IL15 HGNC ENSG00000164136 26 16 38.10 54 0 0.00 IL15 3600 genome.wustl.edu 37 4 142653915 142653915 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 142653915 142653915 G C SNP IL15 ENST00000296545 human ensembl 70_37 +1 known missense c.403 p.E135Q 1.000 pfam_Interleukin_15-like,prints_Interleukin-15 pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15 - no_errors IL15 HGNC ENSG00000164136 39 6 13.33 55 0 0.00 IL15RA 3601 genome.wustl.edu 37 10 6002384 6002384 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 6002384 6002384 G C SNP IL15RA ENST00000379977 human ensembl 70_37 -1 known missense c.529 p.Q177E 0.255 NULL superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL15RA HGNC ENSG00000134470 204 36 15.00 264 0 0.00 IL16 3603 genome.wustl.edu 37 15 81517900 81517900 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 15 81517900 81517900 G C SNP IL16 ENST00000302987 human ensembl 70_37 +1 known missense c.160 p.E54Q 0.997 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16 - no_errors IL16 HGNC ENSG00000172349 21 7 24.14 31 0 0.00 IL16 3603 genome.wustl.edu 37 15 81585185 81585185 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 81585185 81585185 C T SNP IL16 ENST00000302987 human ensembl 70_37 +1 known missense c.1709 p.P570L 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16 - no_errors IL16 HGNC ENSG00000172349 16 6 27.27 32 0 0.00 IL17A 3605 genome.wustl.edu 37 6 52053995 52053995 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 52053995 52053995 G T SNP IL17A ENST00000340057 human ensembl 70_37 +1 known nonsense c.373 p.E125* 0.365 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17A HGNC ENSG00000112115 26 17 39.53 43 0 0.00 IL17C 27189 genome.wustl.edu 37 16 88705500 88705500 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 88705500 88705500 G A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.118 p.E40K 0.777 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC ENSG00000124391 71 24 25.00 106 0 0.00 IL17C 27189 genome.wustl.edu 37 16 88705630 88705630 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88705630 88705630 C T SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.248 p.S83L 0.000 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC ENSG00000124391 45 10 18.18 34 0 0.00 IL17C 27189 genome.wustl.edu 37 16 88705717 88705717 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 88705717 88705717 G A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.335 p.R112H 1.000 pfam_Interleukin-17,prints_Interleukin-17_chordata pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC ENSG00000124391 35 11 23.91 52 0 0.00 IL17C 27189 genome.wustl.edu 37 16 88706364 88706364 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 88706364 88706364 C A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.478 p.R160S 0.991 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC ENSG00000124391 28 13 31.71 46 0 0.00 IL17D 53342 genome.wustl.edu 37 13 21277372 21277372 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 21277372 21277372 C T SNP IL17D ENST00000498088 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17D HGNC ENSG00000172458 12 4 25.00 34 0 0.00 IL17D 53342 genome.wustl.edu 37 13 21277402 21277402 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 21277402 21277402 G T SNP IL17D ENST00000498088 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17D HGNC ENSG00000172458 26 4 13.33 37 0 0.00 IL17RB 55540 genome.wustl.edu 37 3 53899116 53899116 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 53899116 53899116 C G SNP IL17RB ENST00000288167 human ensembl 70_37 +1 known missense c.1290 p.F430L 1.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 24 9 27.27 32 0 0.00 IL17RC 84818 genome.wustl.edu 37 3 9959778 9959778 + Nonstop_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 9959778 9959778 G T SNP IL17RC ENST00000440502 human ensembl 70_37 +1 known nonstop c.299 p.*100L 0.001 NULL NULL - no_errors IL17RC HGNC ENSG00000163702 29 4 12.12 39 0 0.00 IL17RC 84818 genome.wustl.edu 37 3 9974953 9974953 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9974953 9974953 C G SNP IL17RC ENST00000295981 human ensembl 70_37 +1 known silent c.2052 p.L684 1.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 27 7 20.59 19 0 0.00 IL17RD 54756 genome.wustl.edu 37 3 57135379 57135379 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 57135379 57135379 G T SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known nonsense c.992 p.S331* 1.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 10 3 23.08 32 0 0.00 IL17RD 54756 genome.wustl.edu 37 3 57139966 57139966 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 57139966 57139966 C T SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known silent c.666 p.P222 0.561 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 31 4 11.43 37 0 0.00 IL17RD 54756 genome.wustl.edu 37 3 57148770 57148770 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 57148770 57148770 G A SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known missense c.260 p.A87V 0.981 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 92 13 12.38 111 0 0.00 IL18R1 8809 genome.wustl.edu 37 2 102979123 102979123 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 102979123 102979123 G A SNP IL18R1 ENST00000233957 human ensembl 70_37 +1 known missense c.3 p.M1I 0.621 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 61 10 14.08 62 0 0.00 IL18R1 8809 genome.wustl.edu 37 2 103003430 103003430 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 103003430 103003430 G A SNP IL18R1 ENST00000233957 human ensembl 70_37 +1 known missense c.919 p.D307N 0.012 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 13 21 61.76 24 0 0.00 IL18RAP 8807 genome.wustl.edu 37 2 103040318 103040318 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 103040318 103040318 G C SNP IL18RAP ENST00000264260 human ensembl 70_37 +1 known missense c.118 p.E40Q 0.107 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL18RAP HGNC ENSG00000115607 12 5 29.41 44 0 0.00 IL18RAP 8807 genome.wustl.edu 37 2 103040354 103040354 + Nonsense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 103040354 103040354 C T SNP IL18RAP ENST00000264260 human ensembl 70_37 +1 known nonsense c.154 p.Q52* 0.001 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL18RAP HGNC ENSG00000115607 58 7 10.77 67 0 0.00 IL19 29949 genome.wustl.edu 37 1 207015960 207015960 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 207015960 207015960 C T SNP IL19 ENST00000340758 human ensembl 70_37 +1 known missense c.641 p.S214L 0.001 superfamily_4_helix_cytokine-like_core pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,prints_Interleukin-19,prints_Interleukin-24 - no_errors IL19 HGNC ENSG00000142224 80 17 17.35 68 0 0.00 IL1A 3552 genome.wustl.edu 37 2 113535661 113535661 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 113535661 113535661 G A SNP IL1A ENST00000263339 human ensembl 70_37 -1 known missense c.518 p.S173L 0.000 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1 - no_errors IL1A HGNC ENSG00000115008 22 7 24.14 19 0 0.00 IL1A 3552 genome.wustl.edu 37 2 113539283 113539283 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 113539283 113539283 C T SNP IL1A ENST00000263339 human ensembl 70_37 -1 known missense c.217 p.V73I 0.000 pfam_IL1_propep,prints_InterleukinIL1AB pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1 - no_errors IL1A HGNC ENSG00000115008 133 47 26.11 204 0 0.00 IL1F10 84639 genome.wustl.edu 37 2 113832909 113832909 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 113832909 113832909 C T SNP IL1F10 ENST00000337569 human ensembl 70_37 +1 known missense c.427 p.R143C 0.231 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1B - no_errors IL1F10 HGNC ENSG00000136697 14 12 46.15 19 0 0.00 IL1R1 3554 genome.wustl.edu 37 2 102792863 102792863 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102792863 102792863 A C SNP IL1R1 ENST00000233946 human ensembl 70_37 +1 known missense c.1354 p.I452L 0.726 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1R1 HGNC ENSG00000115594 12 6 33.33 51 0 0.00 IL1R1 3554 genome.wustl.edu 37 2 102793102 102793102 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 102793102 102793102 G A SNP IL1R1 ENST00000233946 human ensembl 70_37 +1 known nonsense c.1593 p.W531* 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1R1 HGNC ENSG00000115594 45 10 18.18 63 0 0.00 IL1R2 7850 genome.wustl.edu 37 2 102626319 102626319 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 102626319 102626319 G A SNP IL1R2 ENST00000464994 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors IL1R2 HGNC ENSG00000115590 29 12 29.27 48 0 0.00 IL1R2 7850 genome.wustl.edu 37 2 102632495 102632495 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 102632495 102632495 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known silent c.495 p.V165 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 20 8 28.57 46 0 0.00 IL1R2 7850 genome.wustl.edu 37 2 102642604 102642604 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 102642604 102642604 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known missense c.919 p.E307K 0.999 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 43 7 14.00 59 0 0.00 IL1R2 7850 genome.wustl.edu 37 2 102644707 102644707 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 102644707 102644707 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known nonsense c.1050 p.W350* 0.968 prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 41 17 29.31 49 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190321985 190321985 + Missense_Mutation SNP A A G TCGA-HM-A6W2-01A-21D-A33O-09 TCGA-HM-A6W2-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77da5f5d-4036-48c1-8992-651b8c0ed331 cd89b294-bf23-495d-a809-4ba324acc1ec 3 190321985 190321985 A G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.133 p.I45V 0.998 smart_Ig_sub,prints_IL1_rcpt_I/II pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 20 13 39.39 36 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190322170 190322170 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 190322170 190322170 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known silent c.318 p.L106 1.000 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 153 68 30.77 94 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190363541 190363541 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 190363541 190363541 G C SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1255 p.E419Q 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 31 13 29.55 67 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190373990 190373990 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 190373990 190373990 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1658 p.S553C 0.988 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 28 11 28.21 38 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190374011 190374011 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 190374011 190374011 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1679 p.S560C 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 32 11 25.58 21 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190374011 190374011 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 190374011 190374011 C T SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1679 p.S560F 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 8 18 69.23 20 0 0.00 IL1RAP 3556 genome.wustl.edu 37 3 190374255 190374255 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 190374255 190374255 C T SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known silent c.1923 p.L641 0.980 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC ENSG00000196083 74 29 27.88 68 0 0.00 IL1RAPL1 11141 genome.wustl.edu 37 X 29301120 29301120 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 29301120 29301120 C T SNP IL1RAPL1 ENST00000302196 human ensembl 70_37 +1 known nonsense c.148 p.R50* 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL1RAPL1 HGNC ENSG00000169306 22 12 35.29 80 0 0.00 IL1RAPL1 11141 genome.wustl.edu 37 X 29301125 29301125 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 29301125 29301125 C T SNP IL1RAPL1 ENST00000302196 human ensembl 70_37 +1 known silent c.153 p.I51 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL1RAPL1 HGNC ENSG00000169306 53 14 20.90 84 0 0.00 IL1RAPL2 26280 genome.wustl.edu 37 X 104512091 104512091 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 104512091 104512091 G C SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.564 p.W188C 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 59 26 30.23 68 0 0.00 IL1RAPL2 26280 genome.wustl.edu 37 X 104961396 104961396 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 104961396 104961396 G T SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.809 p.G270V 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 44 17 27.87 64 0 0.00 IL1RAPL2 26280 genome.wustl.edu 37 X 104961411 104961411 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 104961411 104961411 C G SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.824 p.S275C 0.990 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 69 16 18.82 66 0 0.00 IL1RAPL2 26280 genome.wustl.edu 37 X 104999271 104999271 + Silent SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 X 104999271 104999271 G T SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known silent c.1293 p.L431 0.997 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 45 11 19.30 52 0 0.00 IL1RAPL2 26280 genome.wustl.edu 37 X 105011023 105011023 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105011023 105011023 A G SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.1430 p.D477G 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 15 10 40.00 37 0 0.00 IL1RL1 9173 genome.wustl.edu 37 2 102956678 102956678 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102956678 102956678 T G SNP IL1RL1 ENST00000233954 human ensembl 70_37 +1 known missense c.393 p.I131M 0.034 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_IL1_rcpt_I/II pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RL1 HGNC ENSG00000115602 8 8 50.00 31 0 0.00 IL1RL2 8808 genome.wustl.edu 37 2 102851514 102851514 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 102851514 102851514 C G SNP IL1RL2 ENST00000264257 human ensembl 70_37 +1 known silent c.1455 p.L485 0.929 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt - no_errors IL1RL2 HGNC ENSG00000115598 104 46 30.67 134 0 0.00 IL20 50604 genome.wustl.edu 37 1 207039221 207039221 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 207039221 207039221 C T SNP IL20 ENST00000367096 human ensembl 70_37 +1 known silent c.24 p.F8 0.001 prints_Interleukin-20 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24 - no_errors IL20 HGNC ENSG00000162891 36 36 50.00 51 0 0.00 IL20 50604 genome.wustl.edu 37 1 207039699 207039699 + Missense_Mutation SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 207039699 207039699 A G SNP IL20 ENST00000367096 human ensembl 70_37 +1 known missense c.215 p.Q72R 1.000 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24 - no_errors IL20 HGNC ENSG00000162891 60 41 40.59 93 0 0.00 IL20RA 53832 genome.wustl.edu 37 6 137323176 137323176 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 137323176 137323176 G A SNP IL20RA ENST00000316649 human ensembl 70_37 -1 known missense c.1181 p.P394L 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 85 31 26.72 142 0 0.00 IL20RB 53833 genome.wustl.edu 37 3 136708308 136708308 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 136708308 136708308 G C SNP IL20RB ENST00000329582 human ensembl 70_37 +1 known missense c.432 p.E144D 0.000 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 61 35 36.46 81 0 0.00 IL21 59067 genome.wustl.edu 37 4 123534062 123534062 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 123534062 123534062 A C SNP IL21 ENST00000264497 human ensembl 70_37 -1 known missense c.382 p.Y128D 1.000 pfam_Interleukin_15-like pfam_Interleukin_15-like - no_errors IL21 HGNC ENSG00000138684 25 11 30.56 31 0 0.00 IL21R 50615 genome.wustl.edu 37 16 27457337 27457337 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 27457337 27457337 G C SNP IL21R ENST00000337929 human ensembl 70_37 +1 known missense c.795 p.K265N 0.992 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 5 14 73.68 20 0 0.00 IL22RA1 58985 genome.wustl.edu 37 1 24454745 24454745 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 24454745 24454745 A G SNP IL22RA1 ENST00000270800 human ensembl 70_37 -1 known missense c.556 p.Y186H 0.998 pfam_Interferon_alpha/beta_rcpt_bsu pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 35 8 18.60 45 0 0.00 IL23A 51561 genome.wustl.edu 37 12 56733530 56733530 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56733530 56733530 C T SNP IL23A ENST00000228534 human ensembl 70_37 +1 known missense c.317 p.S106L 0.999 pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC ENSG00000110944 76 29 27.62 58 0 0.00 IL23A 51561 genome.wustl.edu 37 12 56733801 56733801 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56733801 56733801 C G SNP IL23A ENST00000228534 human ensembl 70_37 +1 known silent c.483 p.L161 1.000 pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC ENSG00000110944 33 14 29.79 27 0 0.00 IL23R 149233 genome.wustl.edu 37 1 67705952 67705952 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 67705952 67705952 C T SNP IL23R ENST00000347310 human ensembl 70_37 +1 known missense c.1136 p.S379L 0.676 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 112 16 12.50 79 0 0.00 IL25 64806 genome.wustl.edu 37 14 23844858 23844858 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23844858 23844858 C T SNP IL25 ENST00000329715 human ensembl 70_37 +1 known silent c.303 p.L101 0.994 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC ENSG00000166090 27 4 12.90 62 0 0.00 IL25 64806 genome.wustl.edu 37 14 23844999 23844999 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23844999 23844999 G A SNP IL25 ENST00000329715 human ensembl 70_37 +1 known silent c.444 p.E148 0.003 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC ENSG00000166090 103 26 20.16 155 0 0.00 IL26 55801 genome.wustl.edu 37 12 68619010 68619010 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 68619010 68619010 A G SNP IL26 ENST00000229134 human ensembl 70_37 -1 known silent c.282 p.F94 1.000 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC ENSG00000111536 28 19 40.43 35 0 0.00 IL26 55801 genome.wustl.edu 37 12 68619364 68619364 + Splice_Site SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 68619364 68619364 A G SNP IL26 ENST00000229134 human ensembl 70_37 -1 known splice_site c.171+2 e1+2 1.000 - - - no_errors IL26 HGNC ENSG00000111536 50 18 26.47 83 0 0.00 IL27RA 9466 genome.wustl.edu 37 19 14153355 14153355 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 14153355 14153355 C T SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known missense c.625 p.R209W 0.890 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 52 16 23.53 54 0 0.00 IL27RA 9466 genome.wustl.edu 37 19 14157028 14157028 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 14157028 14157028 G A SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known silent c.831 p.L277 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 47 26 35.62 80 0 0.00 IL27RA 9466 genome.wustl.edu 37 19 14160003 14160003 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14160003 14160003 G A SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known missense c.1279 p.D427N 0.673 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 25 10 28.57 35 0 0.00 IFNL2 282616 genome.wustl.edu 37 19 39760152 39760152 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39760152 39760152 G A SNP IL28A ENST00000331982 human ensembl 70_37 +1 known missense c.295 p.E99K 0.969 NULL NULL - no_errors IL28A HGNC ENSG00000183709 57 23 28.75 91 0 0.00 IFNL2 282616 genome.wustl.edu 37 19 39760613 39760613 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 39760613 39760613 G T SNP IL28A ENST00000331982 human ensembl 70_37 +1 known missense c.563 p.R188L 0.001 NULL NULL - no_errors IL28A HGNC ENSG00000183709 59 34 36.56 54 0 0.00 IFNL3 282617 genome.wustl.edu 37 19 39735130 39735130 + Missense_Mutation SNP T T A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 39735130 39735130 T A SNP IL28B ENST00000413851 human ensembl 70_37 -1 known missense c.185 p.E62V 0.035 NULL NULL - no_errors IL28B HGNC ENSG00000197110 14 3 17.65 36 0 0.00 IFNLR1 163702 genome.wustl.edu 37 1 24483816 24483816 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 24483816 24483816 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.1367 p.P456L 0.009 NULL superfamily_Fibronectin_type3 - no_errors IL28RA HGNC ENSG00000185436 108 36 24.49 160 0 0.00 IFNLR1 163702 genome.wustl.edu 37 1 24483816 24483816 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 24483816 24483816 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.1367 p.P456L 0.009 NULL superfamily_Fibronectin_type3 - no_errors IL28RA HGNC ENSG00000185436 28 25 47.17 31 0 0.00 IFNLR1 163702 genome.wustl.edu 37 1 24495963 24495963 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 24495963 24495963 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.311 p.S104F 0.002 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL28RA HGNC ENSG00000185436 3 3 50.00 21 0 0.00 IL2RA 3559 genome.wustl.edu 37 10 6060063 6060063 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 6060063 6060063 C A SNP IL2RA ENST00000379959 human ensembl 70_37 -1 known silent c.747 p.L249 0.881 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL2RA HGNC ENSG00000134460 29 4 12.12 23 0 0.00 IL2RB 3560 genome.wustl.edu 37 22 37531391 37531391 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 37531391 37531391 G T SNP IL2RB ENST00000216223 human ensembl 70_37 -1 known silent c.795 p.I265 0.001 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 35 4 10.26 46 0 0.00 IL31RA 133396 genome.wustl.edu 37 5 55212739 55212739 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 55212739 55212739 C A SNP IL31RA ENST00000447346 human ensembl 70_37 +1 known missense c.2086 p.P696T 0.003 NULL pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 32 16 33.33 56 0 0.00 IL31RA 133396 genome.wustl.edu 37 5 55212857 55212857 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 55212857 55212857 G A SNP IL31RA ENST00000447346 human ensembl 70_37 +1 known missense c.2204 p.G735E 0.000 NULL pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 21 15 41.67 25 0 0.00 IL33 90865 genome.wustl.edu 37 9 6250569 6250569 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 6250569 6250569 G C SNP IL33 ENST00000381434 human ensembl 70_37 +1 known missense c.187 p.E63Q 0.001 NULL NULL - no_errors IL33 HGNC ENSG00000137033 10 10 50.00 14 0 0.00 IL33 90865 genome.wustl.edu 37 9 6254555 6254556 + Splice_Site INS - - A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 6254555 6254556 - A INS IL33 ENST00000381434 human ensembl 70_37 +1 known splice_site_ins c.612+2_612+1 e6+2 0.996:0.986 - - - no_errors IL33 HGNC ENSG00000137033 18 3 14.29 31 0 0.00 IL33 90865 genome.wustl.edu 37 9 6256139 6256139 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6256139 6256139 A T SNP IL33 ENST00000381434 human ensembl 70_37 +1 known missense c.784 p.N262Y 0.001 NULL NULL - no_errors IL33 HGNC ENSG00000137033 39 22 36.07 41 0 0.00 IL36A 27179 genome.wustl.edu 37 2 113763630 113763630 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 113763630 113763630 C T SNP IL36A ENST00000259211 human ensembl 70_37 +1 known silent c.90 p.L30 0.004 superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1AB,prints_InterleukinIL1B - no_errors IL36A HGNC ENSG00000136694 26 12 31.58 33 0 0.00 IL36B 27177 genome.wustl.edu 37 2 113788646 113788646 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 113788646 113788646 G C SNP IL36B ENST00000259213 human ensembl 70_37 -1 known missense c.100 p.L34V 0.000 superfamily_Cytokine_IL1-like superfamily_Cytokine_IL1-like - no_errors IL36B HGNC ENSG00000136696 34 17 33.33 38 0 0.00 IL37 27178 genome.wustl.edu 37 2 113670647 113670647 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 113670647 113670647 G A SNP IL37 ENST00000263326 human ensembl 70_37 +1 known missense c.58 p.D20N 0.059 NULL pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC ENSG00000125571 27 9 25.00 61 0 0.00 IL37 27178 genome.wustl.edu 37 2 113676372 113676372 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113676372 113676372 G A SNP IL37 ENST00000263326 human ensembl 70_37 +1 known missense c.643 p.E215K 0.000 NULL pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC ENSG00000125571 76 22 22.22 111 0 0.00 IL3RA 3563 genome.wustl.edu 37 X 1464225 1464225 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 1464225 1464225 C G SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known missense c.81 p.I27M 0.003 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 448 237 34.55 379 0 0.00 IL3RA 3563 genome.wustl.edu 37 X 1471018 1471018 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 1471018 1471018 G A SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known silent c.324 p.E108 0.000 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 122 15 10.95 118 0 0.00 IL3RA 3563 genome.wustl.edu 37 X 1497563 1497563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 1497563 1497563 G C SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known missense c.886 p.E296Q 0.004 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 30 6 16.67 42 0 0.00 IL4I1 259307 genome.wustl.edu 37 19 50394272 50394272 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 50394272 50394272 G A SNP IL4I1 ENST00000341114 human ensembl 70_37 -1 known silent c.795 p.F265 0.218 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 23 23 50.00 36 0 0.00 IL4I1 259307 genome.wustl.edu 37 19 50398358 50398359 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 50398358 50398359 - C INS IL4I1 ENST00000341114 human ensembl 70_37 -1 known frame_shift_ins c.398_397 p.E133fs 0.998:0.995 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 36 31 46.27 53 0 0.00 IL4I1 259307 genome.wustl.edu 37 19 50399241 50399241 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50399241 50399241 C T SNP IL4I1 ENST00000341114 human ensembl 70_37 -1 known missense c.149 p.R50H 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 60 32 34.78 84 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27352391 27352391 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 27352391 27352391 G A SNP IL4R ENST00000563926 human ensembl 70_37 +1 known missense c.71 p.G24E 0.029 NULL NULL - no_errors IL4R HGNC ENSG00000077238 45 13 22.41 78 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27353578 27353578 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 27353578 27353578 C T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known silent c.207 p.S69 0.004 pfam_IL4Ra_N,superfamily_Fibronectin_type3 pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 47 15 24.19 39 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27373632 27373632 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 27373632 27373632 G T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.959 p.R320M 0.000 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 31 6 16.22 57 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27373942 27373942 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 16 27373942 27373942 C T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known silent c.1269 p.C423 0.005 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 15 3 16.67 21 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27374111 27374111 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 27374111 27374111 G T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.1438 p.D480Y 0.000 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 32 4 11.11 23 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27374353 27374353 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 27374353 27374353 G C SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.1680 p.Q560H 0.917 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 33 25 43.10 50 0 0.00 IL4R 3566 genome.wustl.edu 37 16 27374370 27374370 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 27374370 27374370 C T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.1697 p.A566V 0.001 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 29 26 47.27 64 0 0.00 IL5 3567 genome.wustl.edu 37 5 131879168 131879168 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 131879168 131879168 C A SNP IL5 ENST00000231454 human ensembl 70_37 -1 known missense c.3 p.M1I 0.698 NULL pfam_Interleukin_5,superfamily_4_helix_cytokine-like_core,prints_Interleukin_5 - no_errors IL5 HGNC ENSG00000113525 12 4 25.00 43 0 0.00 IL5RA 3568 genome.wustl.edu 37 3 3139885 3139885 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 3139885 3139885 G A SNP IL5RA ENST00000256452 human ensembl 70_37 -1 known missense c.457 p.L153F 0.985 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 73 20 21.51 100 0 0.00 IL5RA 3568 genome.wustl.edu 37 3 3139969 3139969 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 3139969 3139969 G A SNP IL5RA ENST00000256452 human ensembl 70_37 -1 known missense c.373 p.P125S 0.338 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 24 13 35.14 62 0 0.00 IL6 3569 genome.wustl.edu 37 7 22769345 22769345 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 22769345 22769345 C G SNP IL6 ENST00000420258 human ensembl 70_37 +1 known missense c.699 p.D233E 0.000 smart_IL6_MGF_GCSF pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF - no_errors IL6 HGNC ENSG00000136244 84 44 34.38 103 0 0.00 IL6R 3570 genome.wustl.edu 37 1 154407108 154407108 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154407108 154407108 C G SNP IL6R ENST00000368485 human ensembl 70_37 +1 known missense c.572 p.S191C 0.113 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 21 18 46.15 44 0 0.00 IL6R 3570 genome.wustl.edu 37 1 154426969 154426969 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 154426969 154426969 G C SNP IL6R ENST00000368485 human ensembl 70_37 +1 known missense c.1072 p.D358H 0.830 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 56 36 39.13 83 0 0.00 IL6R 3570 genome.wustl.edu 37 1 154427027 154427027 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 154427027 154427027 G A SNP IL6R ENST00000368485 human ensembl 70_37 +1 known missense c.1130 p.G377E 0.222 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 93 49 34.51 122 0 0.00 IL6ST 3572 genome.wustl.edu 37 5 55237196 55237196 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 55237196 55237196 G A SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known missense c.2471 p.S824F 0.001 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 41 18 30.51 67 0 0.00 IL6ST 3572 genome.wustl.edu 37 5 55264184 55264184 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 55264184 55264184 G A SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known silent c.411 p.N137 0.457 pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 26 10 27.78 53 0 0.00 IL6ST 3572 genome.wustl.edu 37 5 55265471 55265471 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 55265471 55265471 C G SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known missense c.277 p.D93H 0.040 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 81 21 20.59 90 0 0.00 IL7 3574 genome.wustl.edu 37 8 79648739 79648739 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 79648739 79648739 G A SNP IL7 ENST00000263851 human ensembl 70_37 -1 known silent c.384 p.A128 0.001 pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7 pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7 - no_errors IL7 HGNC ENSG00000104432 32 14 30.43 64 0 0.00 IL8 3576 genome.wustl.edu 37 4 74606440 74606441 + Splice_Site INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 4 74606440 74606441 - T INS IL8 ENST00000307407 human ensembl 70_37 +1 known splice_site_ins c.64+1_64+1 e1+1 1.000:1.000 - - - no_errors IL8 HGNC ENSG00000169429 32 30 48.39 51 0 0.00 IL8 3576 genome.wustl.edu 37 4 74607697 74607697 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 74607697 74607697 C A SNP IL8 ENST00000307407 human ensembl 70_37 +1 known missense c.232 p.L78M 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors IL8 HGNC ENSG00000169429 66 8 10.81 33 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155231060 155231060 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 155231060 155231060 C T SNP IL9R ENST00000489233 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors IL9R HGNC ENSG00000124334 147 65 30.52 151 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155231085 155231085 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 155231085 155231085 G A SNP IL9R ENST00000369423 human ensembl 70_37 +1 known silent c.57 p.K19 0.004 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 313 399 55.96 423 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155232553 155232553 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 155232553 155232553 C G SNP IL9R ENST00000369423 human ensembl 70_37 +1 known nonsense c.152 p.S51* 0.753 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 24 51 68.00 78 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155234190 155234190 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 155234190 155234190 G T SNP IL9R ENST00000244174 human ensembl 70_37 +1 known missense c.539 p.S180I 0.429 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 90 40 30.77 111 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155235748 155235748 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 155235748 155235748 G A SNP IL9R ENST00000244174 human ensembl 70_37 +1 known missense c.782 p.G261D 0.004 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 38 19 33.33 74 0 0.00 IL9R 3581 genome.wustl.edu 37 X 155239720 155239720 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 155239720 155239720 G A SNP IL9R ENST00000244174 human ensembl 70_37 +1 known silent c.1212 p.T404 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 33 53 61.63 36 0 0.00 ILDR1 286676 genome.wustl.edu 37 3 121720196 121720196 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121720196 121720196 C T SNP ILDR1 ENST00000344209 human ensembl 70_37 -1 known missense c.605 p.R202H 1.000 pfam_LISCH7 pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 14 3 17.65 32 0 0.00 ILDR1 286676 genome.wustl.edu 37 3 121741028 121741028 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121741028 121741028 C T SNP ILDR1 ENST00000460554 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ILDR1 HGNC ENSG00000145103 56 16 22.22 38 0 0.00 ILDR2 387597 genome.wustl.edu 37 1 166891971 166891971 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 166891971 166891971 C T SNP ILDR2 ENST00000271417 human ensembl 70_37 -1 known missense c.1070 p.R357K 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 133 30 18.40 191 0 0.00 ILF2 3608 genome.wustl.edu 37 1 153634542 153634542 + RNA SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 153634542 153634542 T C SNP ILF2 ENST00000480213 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ILF2 HGNC ENSG00000143621 39 24 37.50 38 0 0.00 ILF2 3608 genome.wustl.edu 37 1 153637792 153637792 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 153637792 153637792 C T SNP ILF2 ENST00000361891 human ensembl 70_37 -1 known missense c.481 p.E161K 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 29 12 29.27 36 0 0.00 ILK 3611 genome.wustl.edu 37 11 6631719 6631719 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 6631719 6631719 C T SNP ILK ENST00000299421 human ensembl 70_37 +1 known silent c.1236 p.T412 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 27 19 40.43 33 0 0.00 ILK 3611 genome.wustl.edu 37 11 6631824 6631824 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6631824 6631824 G A SNP ILK ENST00000299421 human ensembl 70_37 +1 known silent c.1341 p.E447 0.999 superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 25 9 26.47 31 0 0.00 ILKAP 80895 genome.wustl.edu 37 2 239103229 239103229 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 239103229 239103229 G C SNP ILKAP ENST00000490837 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ILKAP HGNC ENSG00000132323 26 5 16.13 48 0 0.00 ILKAP 80895 genome.wustl.edu 37 2 239103498 239103498 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 239103498 239103498 C T SNP ILKAP ENST00000254654 human ensembl 70_37 -1 known silent c.69 p.Q23 0.958 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ENSG00000132323 17 8 32.00 41 0 0.00 ILVBL 10994 genome.wustl.edu 37 19 15226402 15226402 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 15226402 15226402 G A SNP ILVBL ENST00000263383 human ensembl 70_37 -1 known silent c.1695 p.N565 0.982 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 35 17 32.69 32 0 0.00 IMMP1L 196294 genome.wustl.edu 37 11 31477934 31477934 + Splice_Site SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 31477934 31477934 C G SNP IMMP1L ENST00000278200 human ensembl 70_37 -1 known splice_site c.195-1 e3-1 1.000 - - - no_errors IMMP1L HGNC ENSG00000148950 34 7 17.07 71 0 0.00 IMMP1L 196294 genome.wustl.edu 37 11 31482222 31482222 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 31482222 31482222 C T SNP IMMP1L ENST00000278200 human ensembl 70_37 -1 known missense c.145 p.D49N 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP1L HGNC ENSG00000148950 21 19 46.34 38 0 0.00 IMMP2L 83943 genome.wustl.edu 37 7 110526718 110526718 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 110526718 110526718 G A SNP IMMP2L ENST00000331762 human ensembl 70_37 -1 known silent c.339 p.V113 0.921 superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 28 18 39.13 96 0 0.00 IMMT 10989 genome.wustl.edu 37 2 86371573 86371573 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 86371573 86371573 C G SNP IMMT ENST00000410111 human ensembl 70_37 -1 known missense c.2095 p.E699Q 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 47 32 40.51 71 0 0.00 IMMT 10989 genome.wustl.edu 37 2 86408434 86408434 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 86408434 86408434 G A SNP IMMT ENST00000410111 human ensembl 70_37 -1 known missense c.107 p.S36L 0.998 NULL pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 38 13 25.49 35 0 0.00 IMP4 92856 genome.wustl.edu 37 2 131103843 131103843 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 131103843 131103843 G A SNP IMP4 ENST00000259239 human ensembl 70_37 +1 known silent c.759 p.L253 0.985 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ENSG00000136718 25 15 37.50 40 0 0.00 IMPA2 3613 genome.wustl.edu 37 18 11999180 11999180 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 11999180 11999180 C T SNP IMPA2 ENST00000269159 human ensembl 70_37 +1 known missense c.224 p.S75L 0.990 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 19 22 53.66 36 0 0.00 IMPA2 3613 genome.wustl.edu 37 18 12008345 12008345 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 12008345 12008345 C G SNP IMPA2 ENST00000383376 human ensembl 70_37 +1 known missense c.244 p.L82V 0.006 NULL pfam_Inositol_monophosphatase - no_errors IMPA2 HGNC ENSG00000141401 11 16 59.26 22 0 0.00 IMPAD1 54928 genome.wustl.edu 37 8 57905782 57905782 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 57905782 57905782 G C SNP IMPAD1 ENST00000262644 human ensembl 70_37 -1 known silent c.363 p.L121 0.999 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 36 10 21.74 48 0 0.00 IMPAD1 54928 genome.wustl.edu 37 8 57905808 57905808 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 57905808 57905808 A C SNP IMPAD1 ENST00000262644 human ensembl 70_37 -1 known missense c.337 p.S113A 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 44 31 40.79 79 0 0.00 IMPDH1 3614 genome.wustl.edu 37 7 128040436 128040436 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 128040436 128040436 C T SNP IMPDH1 ENST00000338791 human ensembl 70_37 -1 known missense c.737 p.R246Q 1.000 pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 65 44 40.37 150 0 0.00 IMPDH1 3614 genome.wustl.edu 37 7 128043784 128043784 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 128043784 128043784 G C SNP IMPDH1 ENST00000338791 human ensembl 70_37 -1 known missense c.378 p.F126L 1.000 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 46 11 19.30 64 0 0.00 IMPDH2 3615 genome.wustl.edu 37 3 49061967 49061967 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49061967 49061967 G A SNP IMPDH2 ENST00000326739 human ensembl 70_37 -1 known missense c.1484 p.S495F 0.999 pfam_IMP_DH_GMPRt,pirsf_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_Cysta_beta_synth_core,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC ENSG00000178035 48 15 23.81 57 0 0.00 IMPG1 3617 genome.wustl.edu 37 6 76631854 76631854 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 76631854 76631854 C G SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known silent c.2346 p.L782 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 30 22 42.31 47 0 0.00 IMPG1 3617 genome.wustl.edu 37 6 76660509 76660509 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 76660509 76660509 C T SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known missense c.1594 p.E532K 0.005 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 46 16 25.81 60 0 0.00 IMPG1 3617 genome.wustl.edu 37 6 76712654 76712654 + Silent SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 76712654 76712654 T C SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known silent c.1272 p.G424 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 58 7 10.77 34 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100949976 100949976 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 100949976 100949976 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.3247 p.E1083K 1.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 42 19 31.15 73 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100962778 100962778 + Silent SNP T T A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 100962778 100962778 T A SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known silent c.2397 p.A799 0.940 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 21 10 32.26 96 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100964803 100964803 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 100964803 100964803 G T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.1386 p.H462Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 28 15 34.88 40 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100976502 100976502 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 3 100976502 100976502 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.1024 p.D342N 0.984 smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 35 9 20.45 50 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100976541 100976541 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 100976541 100976541 G A SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.985 p.H329Y 1.000 pfam_SEA,smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 15 6 28.57 21 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 100994515 100994515 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 100994515 100994515 C G SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.658 p.E220Q 0.753 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 28 12 30.00 49 0 0.00 IMPG2 50939 genome.wustl.edu 37 3 101023077 101023077 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 101023077 101023077 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.414 p.M138I 1.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 64 16 20.00 53 0 0.00 INA 9118 genome.wustl.edu 37 10 105048215 105048215 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105048215 105048215 G A SNP INA ENST00000369849 human ensembl 70_37 +1 known missense c.1289 p.R430K 0.991 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 39 10 20.41 57 0 0.00 INA 9118 genome.wustl.edu 37 10 105048397 105048397 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105048397 105048397 G A SNP INA ENST00000369849 human ensembl 70_37 +1 known missense c.1471 p.E491K 1.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 9 9 50.00 24 0 0.00 INADL 10207 genome.wustl.edu 37 1 62232113 62232113 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 62232113 62232113 G A SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.352 p.D118N 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 32 11 25.58 44 0 0.00 INADL 10207 genome.wustl.edu 37 1 62329999 62329999 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 62329999 62329999 G C SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.2529 p.E843D 0.005 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 22 13 37.14 33 0 0.00 INADL 10207 genome.wustl.edu 37 1 62566054 62566054 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 62566054 62566054 C T SNP INADL ENST00000543708 human ensembl 70_37 +1 known missense c.793 p.H265Y 0.018 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 20 19 48.72 20 0 0.00 INADL 10207 genome.wustl.edu 37 1 62579784 62579784 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 62579784 62579784 G C SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.4521 p.Q1507H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 44 14 24.14 55 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61895726 61895726 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 61895726 61895726 G T SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.93 p.L31F 0.997 pfam_INCENP_N pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 21 4 16.00 28 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61897557 61897557 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61897557 61897557 C G SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.558 p.L186 0.028 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 15 12 44.44 18 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61906405 61906405 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 61906405 61906405 G A SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.1219 p.E407K 0.044 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 27 16 37.21 27 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61914275 61914275 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 61914275 61914275 G A SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.2105 p.R702Q 0.002 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 30 4 11.76 31 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61914294 61914294 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 61914294 61914294 G C SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2124 p.R708 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 29 11 27.50 26 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61914360 61914360 + Silent SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 61914360 61914360 G T SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2190 p.R730 0.912 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 29 4 12.12 40 0 0.00 INCENP 3619 genome.wustl.edu 37 11 61919295 61919295 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 61919295 61919295 C G SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2604 p.L868 1.000 pfam_Inner_centromere_prot_ARK-bd pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 53 12 18.46 90 0 0.00 INF2 64423 genome.wustl.edu 37 14 105178822 105178822 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 105178822 105178822 C T SNP INF2 ENST00000392634 human ensembl 70_37 +1 known silent c.2542 p.L848 0.926 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 35 31 46.97 78 0 0.00 INF2 64423 genome.wustl.edu 37 14 105179173 105179173 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105179173 105179173 C G SNP INF2 ENST00000392634 human ensembl 70_37 +1 known missense c.2619 p.I873M 0.129 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 55 60 52.17 93 0 0.00 INF2 64423 genome.wustl.edu 37 14 105179925 105179925 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 105179925 105179925 C T SNP INF2 ENST00000392634 human ensembl 70_37 +1 known missense c.3022 p.P1008S 0.001 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 64 26 28.89 104 1 0.95 INF2 64423 genome.wustl.edu 37 14 105180715 105180715 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105180715 105180715 G A SNP INF2 ENST00000392634 human ensembl 70_37 +1 known silent c.3216 p.L1072 0.048 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 40 26 39.39 71 0 0.00 ING1 3621 genome.wustl.edu 37 13 111367831 111367831 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 13 111367831 111367831 G A SNP ING1 ENST00000375774 human ensembl 70_37 +1 known missense c.41 p.R14Q 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 33 7 17.50 48 0 0.00 ING1 3621 genome.wustl.edu 37 13 111371896 111371896 + Nonsense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 13 111371896 111371896 C T SNP ING1 ENST00000375774 human ensembl 70_37 +1 known nonsense c.886 p.Q296* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 11 10 47.62 48 0 0.00 ING4 51147 genome.wustl.edu 37 12 6761909 6761909 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 6761909 6761909 G T SNP ING4 ENST00000396807 human ensembl 70_37 -1 known missense c.419 p.A140D 0.927 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 47 27 36.49 77 0 0.00 ING5 84289 genome.wustl.edu 37 2 242644096 242644096 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 242644096 242644096 G C SNP ING5 ENST00000313552 human ensembl 70_37 +1 known missense c.66 p.Q22H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 66 20 23.26 107 0 0.00 ING5 84289 genome.wustl.edu 37 2 242660352 242660352 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 242660352 242660352 G T SNP ING5 ENST00000482774 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ING5 HGNC ENSG00000168395 17 4 19.05 30 0 0.00 INHA 3623 genome.wustl.edu 37 2 220437117 220437117 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 220437117 220437117 C T SNP INHA ENST00000243786 human ensembl 70_37 +1 known silent c.21 p.L7 0.066 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 28 7 20.00 46 0 0.00 INHBA 3624 genome.wustl.edu 37 7 41729812 41729812 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 41729812 41729812 G A SNP INHBA ENST00000242208 human ensembl 70_37 -1 known silent c.717 p.D239 0.985 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 17 18 51.43 26 0 0.00 INHBA 3624 genome.wustl.edu 37 7 41729911 41729911 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 41729911 41729911 G C SNP INHBA ENST00000242208 human ensembl 70_37 -1 known silent c.618 p.L206 0.078 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 23 6 20.69 43 0 0.00 INHBA 3624 genome.wustl.edu 37 7 41730110 41730110 + Missense_Mutation SNP A A G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 41730110 41730110 A G SNP INHBA ENST00000242208 human ensembl 70_37 -1 known missense c.419 p.I140T 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 18 6 25.00 31 0 0.00 INHBA 3624 genome.wustl.edu 37 7 41731656 41731656 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 41731656 41731656 C G SNP INHBA ENST00000464515 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors INHBA HGNC ENSG00000122641 24 19 44.19 42 0 0.00 INHBA-AS1 285954 genome.wustl.edu 37 7 41816584 41816584 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 41816584 41816584 C A SNP INHBA-AS1 ENST00000415848 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors INHBA-AS1 HGNC ENSG00000224116 51 23 31.08 26 0 0.00 INHBB 3625 genome.wustl.edu 37 2 121106682 121106682 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 121106682 121106682 C T SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.456 p.L152 0.004 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 75 32 29.91 85 0 0.00 INHBB 3625 genome.wustl.edu 37 2 121107168 121107168 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 121107168 121107168 C G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 118 35 22.73 140 0 0.00 INHBB 3625 genome.wustl.edu 37 2 121107168 121107168 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 121107168 121107168 C G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 42 14 25.00 34 0 0.00 INHBB 3625 genome.wustl.edu 37 2 121107209 121107209 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 121107209 121107209 A G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known missense c.983 p.Y328C 0.963 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 50 9 15.25 40 0 0.00 INHBC 3626 genome.wustl.edu 37 12 57843668 57843668 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 57843668 57843668 G T SNP INHBC ENST00000309668 human ensembl 70_37 +1 known missense c.922 p.A308S 0.003 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 19 10 34.48 37 0 0.00 INHBE 83729 genome.wustl.edu 37 12 57850050 57850050 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 57850050 57850050 C A SNP INHBE ENST00000266646 human ensembl 70_37 +1 known missense c.472 p.L158M 0.977 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 35 4 10.26 45 0 0.00 INHBE 83729 genome.wustl.edu 37 12 57850121 57850121 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 57850121 57850121 G A SNP INHBE ENST00000266646 human ensembl 70_37 +1 known silent c.543 p.E181 0.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 37 8 17.78 56 0 0.00 INIP 58493 genome.wustl.edu 37 9 115456478 115456478 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 115456478 115456478 C T SNP INIP ENST00000374242 human ensembl 70_37 -1 known missense c.61 p.E21K 1.000 NULL NULL - no_errors INIP HGNC ENSG00000148153 60 14 18.92 55 0 0.00 INMT 11185 genome.wustl.edu 37 7 30739485 30739485 + RNA SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 7 30739485 30739485 C T SNP INMT ENST00000461246 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INMT HGNC ENSG00000241644 17 19 52.78 27 0 0.00 INMT 11185 genome.wustl.edu 37 7 30795311 30795311 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 30795311 30795311 C T SNP INMT ENST00000013222 human ensembl 70_37 +1 known silent c.636 p.S212 0.426 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 29 26 47.27 59 0 0.00 INO80 54617 genome.wustl.edu 37 15 41275976 41275976 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 41275976 41275976 G A SNP INO80 ENST00000361937 human ensembl 70_37 -1 known silent c.4221 p.V1407 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 39 14 26.42 66 0 0.00 INO80 54617 genome.wustl.edu 37 15 41279304 41279304 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 41279304 41279304 C T SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.3817 p.E1273K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 11 14 56.00 47 0 0.00 INO80 54617 genome.wustl.edu 37 15 41346164 41346164 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 41346164 41346164 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.2237 p.R746T 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 32 23 41.82 53 0 0.00 INO80 54617 genome.wustl.edu 37 15 41347514 41347514 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 41347514 41347514 C A SNP INO80 ENST00000361937 human ensembl 70_37 -1 known nonsense c.2119 p.E707* 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 36 12 25.00 53 0 0.00 INO80 54617 genome.wustl.edu 37 15 41364136 41364136 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 41364136 41364136 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.1516 p.E506Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 36 10 21.28 51 0 0.00 INO80 54617 genome.wustl.edu 37 15 41371977 41371977 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 41371977 41371977 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.1053 p.E351D 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 33 11 25.00 53 0 0.00 INO80B 83444 genome.wustl.edu 37 2 74684521 74684521 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 74684521 74684521 G A SNP INO80B ENST00000452361 human ensembl 70_37 +1 known missense c.601 p.E201K 0.926 NULL pfam_PAPA1,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 43 6 12.24 38 0 0.00 INO80D 54891 genome.wustl.edu 37 2 206882465 206882465 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 206882465 206882465 G T SNP INO80D ENST00000403263 human ensembl 70_37 -1 known missense c.1481 p.S494Y 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 23 4 14.81 38 0 0.00 INO80D 54891 genome.wustl.edu 37 2 206911292 206911292 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 206911292 206911292 C G SNP INO80D ENST00000403263 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 49 26 34.67 78 0 0.00 INO80E 283899 genome.wustl.edu 37 16 30016734 30016734 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 30016734 30016734 G A SNP INO80E ENST00000563197 human ensembl 70_37 +1 known missense c.706 p.D236N 0.996 NULL NULL - no_errors INO80E HGNC ENSG00000169592 7 4 36.36 16 0 0.00 INPP1 3628 genome.wustl.edu 37 2 191233880 191233880 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 191233880 191233880 G A SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known missense c.518 p.G173E 0.998 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 106 35 24.82 148 0 0.00 INPP1 3628 genome.wustl.edu 37 2 191235744 191235744 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 191235744 191235744 C G SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known missense c.816 p.I272M 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 28 4 12.50 33 0 0.00 INPP1 3628 genome.wustl.edu 37 2 191236083 191236083 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 191236083 191236083 G A SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known silent c.1155 p.L385 0.992 NULL pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 22 14 38.89 25 0 0.00 INPP4A 3631 genome.wustl.edu 37 2 99162457 99162457 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99162457 99162457 G C SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.975 p.L325F 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 15 12 44.44 37 0 0.00 INPP4A 3631 genome.wustl.edu 37 2 99182207 99182207 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 99182207 99182207 C A SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.2272 p.L758M 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 27 10 27.03 54 0 0.00 INPP4A 3631 genome.wustl.edu 37 2 99182575 99182575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 99182575 99182575 G A SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.2378 p.R793Q 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 22 12 35.29 33 0 0.00 INPP4A 3631 genome.wustl.edu 37 2 99198162 99198162 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 99198162 99198162 G T SNP INPP4A ENST00000409540 human ensembl 70_37 +1 known silent c.2808 p.L936 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 36 4 10.00 33 0 0.00 INPP4B 8821 genome.wustl.edu 37 4 142950044 142950044 + Missense_Mutation SNP A A G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 142950044 142950044 A G SNP INPP4B ENST00000262992 human ensembl 70_37 -1 known missense c.2666 p.V889A 0.999 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 51 13 20.31 63 0 0.00 INPP4B 8821 genome.wustl.edu 37 4 143003309 143003309 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 143003309 143003309 G T SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known missense c.2517 p.F839L 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 14 4 22.22 53 0 0.00 INPP4B 8821 genome.wustl.edu 37 4 143003324 143003324 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 143003324 143003324 C T SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known silent c.2502 p.L834 0.962 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 54 11 16.92 45 0 0.00 INPP4B 8821 genome.wustl.edu 37 4 143129638 143129638 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 143129638 143129638 C A SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known nonsense c.1012 p.E338* 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 20 12 37.50 92 0 0.00 INPP4B 8821 genome.wustl.edu 37 4 143181669 143181669 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 143181669 143181669 C G SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known missense c.664 p.D222H 0.996 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 34 33 48.53 63 0 0.00 INPP5B 3633 genome.wustl.edu 37 1 38339012 38339013 + RNA INS - - A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 38339012 38339013 - A INS INPP5B ENST00000474758 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors INPP5B HGNC ENSG00000204084 2 3 60.00 10 0 0.00 INPP5B 3633 genome.wustl.edu 37 1 38397237 38397237 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 38397237 38397237 C A SNP INPP5B ENST00000373021 human ensembl 70_37 -1 known nonsense c.880 p.E294* 0.001 NULL NULL - no_errors INPP5B HGNC ENSG00000204084 9 6 40.00 23 0 0.00 INPP5B 3633 genome.wustl.edu 37 1 38409491 38409491 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 38409491 38409491 G C SNP INPP5B ENST00000373023 human ensembl 70_37 -1 known missense c.227 p.S76W 0.945 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 30 8 21.05 35 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 233944076 233944076 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 233944076 233944076 C T SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known silent c.166 p.L56 0.995 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 33 10 23.26 34 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 233998699 233998699 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 233998699 233998699 G A SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known silent c.675 p.L225 0.039 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 90 11 10.78 99 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 234072395 234072395 + Missense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 234072395 234072395 C G SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.1247 p.S416C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 57 10 14.93 115 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 234078039 234078039 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 234078039 234078039 G C SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.1608 p.K536N 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 28 10 26.32 28 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 234104109 234104109 + Silent SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 2 234104109 234104109 C T SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known silent c.2625 p.H875 0.118 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 83 33 28.45 81 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 234112927 234112927 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 234112927 234112927 G A SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.3095 p.R1032Q 0.963 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 63 11 14.86 103 0 0.00 INPP5D 3635 genome.wustl.edu 37 2 234113029 234113029 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 234113029 234113029 T C SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.3197 p.V1066A 0.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 8 8 50.00 31 0 0.00 INPP5E 56623 genome.wustl.edu 37 9 139325521 139325521 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139325521 139325521 G A SNP INPP5E ENST00000371712 human ensembl 70_37 -1 known missense c.1598 p.S533L 0.938 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 57 10 14.93 47 0 0.00 INPP5F 22876 genome.wustl.edu 37 10 121569692 121569692 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 121569692 121569692 C G SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 75 16 17.58 81 0 0.00 INPP5F 22876 genome.wustl.edu 37 10 121586539 121586539 + Silent SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 121586539 121586539 A T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.2646 p.V882 0.241 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 32 16 33.33 34 0 0.00 INPP5F 22876 genome.wustl.edu 37 10 121586539 121586539 + Silent SNP A A T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 121586539 121586539 A T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.2646 p.V882 0.241 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 62 37 37.37 109 0 0.00 INPP5F 22876 genome.wustl.edu 37 10 121587053 121587053 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 121587053 121587053 C T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known missense c.3160 p.H1054Y 0.031 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 33 25 43.10 82 0 0.00 INPP5J 27124 genome.wustl.edu 37 22 31521299 31521299 + Nonsense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 31521299 31521299 G T SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known nonsense c.574 p.E192* 0.481 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 23 6 20.69 37 0 0.00 INPP5J 27124 genome.wustl.edu 37 22 31522641 31522641 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 31522641 31522641 C T SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known silent c.1428 p.D476 0.967 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 42 14 25.00 72 0 0.00 INPP5J 27124 genome.wustl.edu 37 22 31523358 31523358 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 31523358 31523358 G A SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known missense c.1627 p.V543M 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 18 7 28.00 26 0 0.00 INPP5K 51763 genome.wustl.edu 37 17 1416750 1416750 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 1416750 1416750 G C SNP INPP5K ENST00000421807 human ensembl 70_37 -1 known missense c.258 p.I86M 0.997 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 33 26 44.07 37 0 0.00 INPP5K 51763 genome.wustl.edu 37 17 1416809 1416809 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 1416809 1416809 C T SNP INPP5K ENST00000421807 human ensembl 70_37 -1 known missense c.199 p.A67T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 25 4 13.79 47 0 0.00 INPPL1 3636 genome.wustl.edu 37 11 71941061 71941061 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71941061 71941061 G A SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 25 18 41.86 38 0 0.00 INPPL1 3636 genome.wustl.edu 37 11 71941062 71941062 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71941062 71941062 A T SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.938 p.E313V 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 25 18 41.86 38 0 0.00 INPPL1 3636 genome.wustl.edu 37 11 71944182 71944182 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 71944182 71944182 C G SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.2015 p.A672G 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 25 15 37.50 31 0 0.00 INPPL1 3636 genome.wustl.edu 37 11 71944780 71944780 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 71944780 71944780 C T SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.2204 p.S735F 1.000 smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 58 31 34.83 80 0 0.00 INSC 387755 genome.wustl.edu 37 11 15260507 15260507 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 15260507 15260507 C A SNP INSC ENST00000379554 human ensembl 70_37 +1 known missense c.1421 p.S474Y 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 55 16 22.54 89 0 0.00 INSIG1 3638 genome.wustl.edu 37 7 155090103 155090103 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 155090103 155090103 G C SNP INSIG1 ENST00000340368 human ensembl 70_37 +1 known missense c.108 p.E36D 0.507 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 64 15 18.99 59 0 0.00 INSIG1 3638 genome.wustl.edu 37 7 155090262 155090262 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 155090262 155090262 C G SNP INSIG1 ENST00000340368 human ensembl 70_37 +1 known silent c.267 p.L89 0.632 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 13 3 18.75 13 0 0.00 INSIG1 3638 genome.wustl.edu 37 7 155095546 155095546 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 155095546 155095546 C T SNP INSIG1 ENST00000344756 human ensembl 70_37 +1 known silent c.360 p.F120 0.000 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 16 5 23.81 35 0 0.00 INSIG2 51141 genome.wustl.edu 37 2 118864263 118864263 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 118864263 118864263 G A SNP INSIG2 ENST00000479999 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INSIG2 HGNC ENSG00000125629 23 15 39.47 42 0 0.00 INSIG2 51141 genome.wustl.edu 37 2 118865890 118865890 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 118865890 118865890 C T SNP INSIG2 ENST00000245787 human ensembl 70_37 +1 known nonsense c.670 p.Q224* 1.000 NULL pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 15 20 57.14 18 0 0.00 INSIG2 51141 genome.wustl.edu 37 2 118867466 118867466 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 118867466 118867466 G C SNP INSIG2 ENST00000471186 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INSIG2 HGNC ENSG00000125629 71 21 22.83 69 0 0.00 INSL3 3640 genome.wustl.edu 37 19 17927708 17927708 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 17927708 17927708 G A SNP INSL3 ENST00000379695 human ensembl 70_37 -1 putative missense c.446 p.S149L 0.512 NULL superfamily_Insulin-like - no_errors INSL3 HGNC ENSG00000248099 56 10 15.15 83 0 0.00 INSL5 10022 genome.wustl.edu 37 1 67263926 67263926 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 67263926 67263926 C G SNP INSL5 ENST00000304526 human ensembl 70_37 -1 known missense c.178 p.E60Q 0.723 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 31 10 24.39 37 0 0.00 INSM1 3642 genome.wustl.edu 37 20 20350277 20350277 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 20350277 20350277 C G SNP INSM1 ENST00000310227 human ensembl 70_37 +1 known missense c.1366 p.Q456E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM1 HGNC ENSG00000173404 34 8 19.05 28 0 0.00 INSR 3643 genome.wustl.edu 37 19 7117417 7117417 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 7117417 7117417 C A SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.3799 p.D1267Y 0.461 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 20 15 42.86 28 0 0.00 INSR 3643 genome.wustl.edu 37 19 7119532 7119532 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7119532 7119532 G C SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.3722 p.S1241C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 6 16 72.73 47 0 0.00 INSR 3643 genome.wustl.edu 37 19 7128913 7128913 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 7128913 7128913 G T SNP INSR ENST00000302850 human ensembl 70_37 -1 known silent c.2895 p.V965 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 8 4 33.33 31 0 0.00 INSR 3643 genome.wustl.edu 37 19 7132175 7132175 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7132175 7132175 C T SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.2836 p.D946N 0.995 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 39 21 35.00 43 0 0.00 INSR 3643 genome.wustl.edu 37 19 7172413 7172413 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 7172413 7172413 C T SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.1156 p.G386S 1.000 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 63 39 38.24 65 0 0.00 INSRR 3645 genome.wustl.edu 37 1 156811515 156811515 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 156811515 156811515 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.3469 p.R1157C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 28 5 15.15 29 0 0.00 INSRR 3645 genome.wustl.edu 37 1 156814526 156814526 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 156814526 156814526 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known silent c.2547 p.Y849 0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 44 17 27.87 36 0 0.00 INSRR 3645 genome.wustl.edu 37 1 156816359 156816359 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156816359 156816359 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.1762 p.H588Y 0.858 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 65 47 41.59 60 0 0.00 INSRR 3645 genome.wustl.edu 37 1 156821165 156821165 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 156821165 156821165 G C SNP INSRR ENST00000368195 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 36 23 38.98 67 0 0.00 INSRR 3645 genome.wustl.edu 37 1 156824069 156824069 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 156824069 156824069 C G SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.963 pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 10 11 52.38 23 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1510583 1510583 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 1510583 1510583 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.6968 p.A2323V 0.998 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 17 13 43.33 8 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1511263 1511263 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 1511263 1511263 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.6811 p.L2271 0.997 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 11 16 57.14 32 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1512808 1512808 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 1512808 1512808 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.6582 p.F2194 0.942 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 31 18 36.73 60 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1515923 1515923 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 1515923 1515923 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.5932 p.E1978K 0.771 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 5 2 28.57 10 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1517492 1517492 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 1517492 1517492 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.5308 p.A1770T 0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 31 8 20.00 34 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1519192 1519192 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 1519192 1519192 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.4800 p.I1600 0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 24 8 25.00 32 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1522299 1522299 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 1522299 1522299 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.4072 p.E1358K 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 21 26 55.32 38 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1523759 1523759 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 1523759 1523759 G C SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.3795 p.L1265 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 53 32 37.65 81 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1525079 1525079 + Silent SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 1525079 1525079 G T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.3489 p.G1163 0.800 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 54 9 14.29 46 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1525123 1525123 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 1525123 1525123 G C SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.3445 p.H1149D 0.001 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 26 13 33.33 40 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1535091 1535091 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 1535091 1535091 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.2194 p.A732T 0.519 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 42 9 17.65 66 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1535823 1535823 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 7 1535823 1535823 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.2064 p.A688 0.008 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 57 41 41.84 71 0 0.00 INTS1 26173 genome.wustl.edu 37 7 1542628 1542628 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 1542628 1542628 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.642 p.L214 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 49 35 41.18 97 0 0.00 INTS10 55174 genome.wustl.edu 37 8 19681401 19681401 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 19681401 19681401 G C SNP INTS10 ENST00000397977 human ensembl 70_37 +1 known missense c.682 p.D228H 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 41 31 43.06 50 0 0.00 INTS12 57117 genome.wustl.edu 37 4 106604362 106604362 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 106604362 106604362 G C SNP INTS12 ENST00000340139 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 47 8 14.55 61 0 0.00 INTS12 57117 genome.wustl.edu 37 4 106616790 106616791 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 106616790 106616791 - T INS INTS12 ENST00000340139 human ensembl 70_37 -1 known frame_shift_ins c.192_191 p.N64fs 0.008:0.124 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 88 11 11.11 69 0 0.00 INTS2 57508 genome.wustl.edu 37 17 59945364 59945364 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 59945364 59945364 G A SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.3275 p.T1092I 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 23 8 25.81 37 0 0.00 INTS2 57508 genome.wustl.edu 37 17 59958458 59958458 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 59958458 59958458 C T SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.2188 p.E730K 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 16 10 38.46 20 0 0.00 INTS2 57508 genome.wustl.edu 37 17 59968993 59968993 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 59968993 59968993 G C SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.1780 p.P594A 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 44 13 22.81 72 0 0.00 INTS2 57508 genome.wustl.edu 37 17 59999170 59999170 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 59999170 59999170 C T SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.475 p.E159K 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 46 12 20.69 51 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153701255 153701255 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 153701255 153701255 G C SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.145 p.E49Q 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 39 23 37.10 60 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153721203 153721203 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 153721203 153721203 A G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.556 p.S186G 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 46 11 19.30 44 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153735821 153735821 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153735821 153735821 C G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known silent c.1749 p.L583 0.999 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 20 6 23.08 23 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153736609 153736609 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153736609 153736609 G C SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.1837 p.E613Q 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 23 15 39.47 30 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153737475 153737475 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 153737475 153737475 C A SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.2026 p.L676I 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 36 13 26.53 50 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153742319 153742319 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153742319 153742319 C G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known silent c.2388 p.L796 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 88 15 14.29 79 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153745111 153745111 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 153745111 153745111 C T SNP INTS3 ENST00000456435 human ensembl 70_37 +1 known silent c.2398 p.L800 0.343 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 37 28 43.08 76 0 0.00 INTS3 65123 genome.wustl.edu 37 1 153745674 153745674 + Missense_Mutation SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 153745674 153745674 G T SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.3057 p.E1019D 0.990 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 27 4 12.90 43 0 0.00 INTS4 92105 genome.wustl.edu 37 11 77590061 77590061 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 77590061 77590061 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known silent c.2826 p.I942 0.943 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 160 89 35.60 227 0 0.00 INTS4 92105 genome.wustl.edu 37 11 77614602 77614602 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 77614602 77614602 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known missense c.2081 p.S694L 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 42 16 27.59 50 0 0.00 INTS4 92105 genome.wustl.edu 37 11 77629950 77629950 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 77629950 77629950 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known silent c.1839 p.F613 0.999 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 122 26 17.57 158 0 0.00 INTS4 92105 genome.wustl.edu 37 11 77632453 77632453 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 77632453 77632453 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known missense c.1697 p.S566L 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 64 21 24.71 110 0 0.00 INTS4L1 285905 genome.wustl.edu 37 7 64639820 64639820 + RNA SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 64639820 64639820 C G SNP INTS4L1 ENST00000587624 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 183 44 19.38 228 0 0.00 INTS4L1 285905 genome.wustl.edu 37 7 64646871 64646871 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 64646871 64646871 C T SNP INTS4L1 ENST00000587624 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 86 37 30.08 177 0 0.00 INTS5 80789 genome.wustl.edu 37 11 62414999 62414999 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 62414999 62414999 G A SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known silent c.2553 p.F851 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 34 16 32.00 33 0 0.00 INTS5 80789 genome.wustl.edu 37 11 62416084 62416084 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 62416084 62416084 G A SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known nonsense c.1468 p.R490* 0.986 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 45 28 38.36 64 0 0.00 INTS5 80789 genome.wustl.edu 37 11 62416283 62416283 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 62416283 62416283 C G SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known missense c.1269 p.Q423H 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 40 18 31.03 71 0 0.00 INTS6 26512 genome.wustl.edu 37 13 51943132 51943132 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 51943132 51943132 C T SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.2419 p.E807K 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 64 46 41.82 120 0 0.00 INTS6 26512 genome.wustl.edu 37 13 51961658 51961658 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 51961658 51961658 G A SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.758 p.S253L 0.990 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 9 8 47.06 38 0 0.00 INTS6 26512 genome.wustl.edu 37 13 51997186 51997186 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51997186 51997186 T C SNP INTS6 ENST00000461515 human ensembl 70_37 -1 known rna NULL NULL 0.102 - - - no_errors INTS6 HGNC ENSG00000102786 15 7 31.82 38 0 0.00 INTS6 26512 genome.wustl.edu 37 13 52025274 52025274 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 52025274 52025274 C T SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.226 p.E76K 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 11 30 71.43 27 0 0.00 INTS6-AS1 100507398 genome.wustl.edu 37 13 52042358 52042358 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 52042358 52042358 C T SNP INTS6-AS1 ENST00000601572 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INTS6-AS1 HGNC ENSG00000236778 24 20 44.44 46 0 0.00 INTS7 25896 genome.wustl.edu 37 1 212118246 212118246 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 212118246 212118246 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.2481 p.L827 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 30 16 34.78 36 0 0.00 INTS7 25896 genome.wustl.edu 37 1 212156143 212156143 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 212156143 212156143 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known missense c.1007 p.S336N 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 14 12 46.15 24 0 0.00 INTS7 25896 genome.wustl.edu 37 1 212180086 212180086 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 212180086 212180086 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.774 p.Q258 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 38 6 13.64 41 0 0.00 INTS7 25896 genome.wustl.edu 37 1 212190329 212190329 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 212190329 212190329 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.408 p.R136 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 21 9 30.00 20 0 0.00 INTS8 55656 genome.wustl.edu 37 8 95869137 95869137 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 95869137 95869137 C A SNP INTS8 ENST00000523731 human ensembl 70_37 +1 known missense c.1885 p.Q629K 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 33 10 23.26 74 0 0.00 INTS8 55656 genome.wustl.edu 37 8 95885647 95885647 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 95885647 95885647 G A SNP INTS8 ENST00000523731 human ensembl 70_37 +1 known missense c.2579 p.G860E 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 39 8 17.02 89 0 0.00 INTU 27152 genome.wustl.edu 37 4 128564836 128564836 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 128564836 128564836 G C SNP INTU ENST00000335251 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 20 8 28.57 40 0 0.00 INTU 27152 genome.wustl.edu 37 4 128626914 128626914 + Missense_Mutation SNP A A G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 128626914 128626914 A G SNP INTU ENST00000335251 human ensembl 70_37 +1 known missense c.1735 p.T579A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 94 94 49.74 304 1 0.33 INTU 27152 genome.wustl.edu 37 4 128627997 128627997 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 128627997 128627997 G A SNP INTU ENST00000335251 human ensembl 70_37 +1 known missense c.2144 p.G715E 0.927 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 44 16 26.67 99 0 0.00 INVS 27130 genome.wustl.edu 37 9 103015233 103015233 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103015233 103015233 C G SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1279 p.L427V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 47 10 17.54 26 0 0.00 INVS 27130 genome.wustl.edu 37 9 103035180 103035180 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 103035180 103035180 C T SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1606 p.R536C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 145 81 35.84 241 0 0.00 INVS 27130 genome.wustl.edu 37 9 103035345 103035345 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 103035345 103035345 G C SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1771 p.D591H 1.000 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 43 13 23.21 66 0 0.00 INVS 27130 genome.wustl.edu 37 9 103054935 103054935 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 103054935 103054935 G A SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.2396 p.R799K 0.745 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 31 6 16.22 31 0 0.00 INVS 27130 genome.wustl.edu 37 9 103054935 103054935 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103054935 103054935 G A SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.2396 p.R799K 0.745 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 35 34 49.28 48 0 0.00 INVS 27130 genome.wustl.edu 37 9 103060280 103060280 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 103060280 103060280 C T SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.3079 p.R1027C 0.890 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 10 24 70.59 60 0 0.00 IP6K1 9807 genome.wustl.edu 37 3 49765613 49765613 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 49765613 49765613 C T SNP IP6K1 ENST00000321599 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 23 4 14.81 32 0 0.00 IP6K2 51447 genome.wustl.edu 37 3 48725981 48725981 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 48725981 48725981 C T SNP IP6K2 ENST00000328631 human ensembl 70_37 -1 known missense c.1006 p.D336N 1.000 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 62 7 10.14 68 0 0.00 IP6K2 51447 genome.wustl.edu 37 3 48731583 48731583 + Nonstop_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 48731583 48731583 C G SNP IP6K2 ENST00000340879 human ensembl 70_37 -1 known nonstop c.293 p.*98S 0.972 NULL NULL - no_errors IP6K2 HGNC ENSG00000068745 44 16 26.67 60 0 0.00 IP6K3 117283 genome.wustl.edu 37 6 33690845 33690845 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 33690845 33690845 C T SNP IP6K3 ENST00000293756 human ensembl 70_37 -1 known silent c.885 p.R295 0.001 pfam_IPK pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 33 7 17.50 29 0 0.00 IPCEF1 26034 genome.wustl.edu 37 6 154480965 154480965 + Nonstop_Mutation SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 154480965 154480965 A G SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known nonstop c.1315 p.*439R 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 14 3 17.65 27 0 0.00 IPCEF1 26034 genome.wustl.edu 37 6 154567853 154567853 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 154567853 154567853 G A SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known silent c.118 p.L40 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 35 32 47.76 31 0 0.00 IPCEF1 26034 genome.wustl.edu 37 6 154567853 154567853 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 154567853 154567853 G A SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known silent c.118 p.L40 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 44 64 58.18 67 0 0.00 IPMK 253430 genome.wustl.edu 37 10 59976022 59976022 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 59976022 59976022 C T SNP IPMK ENST00000373935 human ensembl 70_37 -1 known missense c.430 p.D144N 1.000 pfam_IPK pfam_IPK - no_errors IPMK HGNC ENSG00000151151 26 5 16.13 44 0 0.00 IPO11 51194 genome.wustl.edu 37 5 61747703 61747703 + Silent SNP T T C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 61747703 61747703 T C SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known silent c.579 p.H193 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 21 4 16.00 65 0 0.00 IPO11 51194 genome.wustl.edu 37 5 61786023 61786023 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 61786023 61786023 C G SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known missense c.1559 p.P520R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 67 11 14.10 100 0 0.00 IPO11 51194 genome.wustl.edu 37 5 61822025 61822025 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61822025 61822025 G A SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known silent c.2073 p.L691 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 18 13 41.94 34 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44422596 44422596 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 44422596 44422596 G A SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 29 13 30.95 35 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44424143 44424143 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 44424143 44424143 G T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1760 p.C587F 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 12 10 45.45 27 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44424532 44424532 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 44424532 44424532 A C SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1999 p.K667Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 91 18 16.51 117 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44433064 44433064 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 44433064 44433064 C T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known silent c.2691 p.F897 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 126 16 11.27 182 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44433064 44433064 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 44433064 44433064 C T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known silent c.2691 p.F897 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 33 8 19.51 43 0 0.00 IPO13 9670 genome.wustl.edu 37 1 44433134 44433134 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 44433134 44433134 G C SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.2761 p.E921Q 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 25 3 10.71 26 0 0.00 IPO4 79711 genome.wustl.edu 37 14 24650921 24650921 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 24650921 24650921 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.2936 p.P979L 0.622 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 33 13 28.26 60 0 0.00 IPO4 79711 genome.wustl.edu 37 14 24652265 24652265 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 24652265 24652265 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.2338 p.R780C 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 17 6 26.09 35 0 0.00 IPO4 79711 genome.wustl.edu 37 14 24653559 24653559 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 24653559 24653559 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known nonsense c.1702 p.Q568* 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 27 24 47.06 55 0 0.00 IPO4 79711 genome.wustl.edu 37 14 24654676 24654676 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24654676 24654676 C T SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.1267 p.E423K 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 28 12 30.00 52 0 0.00 IPO5 3843 genome.wustl.edu 37 13 98622062 98622062 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 13 98622062 98622062 G A SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known missense c.28 p.E10K 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 79 19 19.39 74 0 0.00 IPO5 3843 genome.wustl.edu 37 13 98652882 98652882 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 13 98652882 98652882 T C SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known missense c.1145 p.M382T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 85 32 27.35 27 0 0.00 IPO5 3843 genome.wustl.edu 37 13 98654945 98654945 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 98654945 98654945 G C SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known missense c.1295 p.R432T 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 94 19 16.81 91 0 0.00 IPO5 3843 genome.wustl.edu 37 13 98664577 98664577 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 98664577 98664577 G A SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known silent c.2187 p.L729 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 53 26 32.91 68 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9424778 9424778 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 9424778 9424778 C T SNP IPO7 ENST00000533680 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors IPO7 HGNC ENSG00000205339 14 7 33.33 29 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9424908 9424908 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 9424908 9424908 G C SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known silent c.156 p.V52 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 42 18 30.00 72 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9431474 9431474 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 9431474 9431474 G C SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known splice_site c.321-1 e4-1 1.000 - - - no_errors IPO7 HGNC ENSG00000205339 52 25 32.47 54 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9450716 9450716 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 9450716 9450716 C G SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.1564 p.Q522E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 22 7 24.14 25 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9457893 9457893 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 9457893 9457893 A G SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.2248 p.K750E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 58 45 43.69 42 0 0.00 IPO7 10527 genome.wustl.edu 37 11 9466668 9466668 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 9466668 9466668 G T SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.3044 p.G1015V 1.000 NULL pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 56 37 39.78 56 0 0.00 IPO8 10526 genome.wustl.edu 37 12 30792516 30792516 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 30792516 30792516 G T SNP IPO8 ENST00000256079 human ensembl 70_37 -1 known missense c.2422 p.H808N 0.998 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 19 19 50.00 76 0 0.00 IPO8 10526 genome.wustl.edu 37 12 30826980 30826980 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 30826980 30826980 C G SNP IPO8 ENST00000256079 human ensembl 70_37 -1 known missense c.853 p.E285Q 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 32 21 39.62 73 0 0.00 IPO9 55705 genome.wustl.edu 37 1 201798396 201798396 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 201798396 201798396 G A SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known missense c.59 p.G20E 0.996 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 57 19 25.00 59 0 0.00 IPO9 55705 genome.wustl.edu 37 1 201835972 201835972 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201835972 201835972 C G SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known silent c.1740 p.L580 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 29 13 30.95 34 0 0.00 IPO9 55705 genome.wustl.edu 37 1 201838797 201838797 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 201838797 201838797 C G SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known missense c.2084 p.P695R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 31 12 27.91 47 0 0.00 IPO9 55705 genome.wustl.edu 37 1 201839837 201839837 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 201839837 201839837 C T SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known missense c.2260 p.R754C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 52 71 57.72 73 0 0.00 IPO9 55705 genome.wustl.edu 37 1 201843430 201843430 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 201843430 201843430 C T SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known silent c.2763 p.I921 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 109 17 13.49 81 0 0.00 IPP 3652 genome.wustl.edu 37 1 46165596 46165596 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 46165596 46165596 G T SNP IPP ENST00000495072 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IPP HGNC ENSG00000197429 22 3 12.00 29 0 0.00 IPP 3652 genome.wustl.edu 37 1 46211870 46211870 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 46211870 46211870 C T SNP IPP ENST00000396478 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 28 15 34.88 46 0 0.00 IPPK 64768 genome.wustl.edu 37 9 95378117 95378117 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 95378117 95378117 G C SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1473 p.V491 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 25 9 26.47 37 0 0.00 IPPK 64768 genome.wustl.edu 37 9 95378126 95378126 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 95378126 95378126 G A SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1464 p.L488 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 27 8 22.86 38 0 0.00 IPPK 64768 genome.wustl.edu 37 9 95378213 95378213 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95378213 95378213 G C SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1377 p.V459 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 57 15 20.83 48 0 0.00 IPPK 64768 genome.wustl.edu 37 9 95400399 95400399 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 95400399 95400399 C T SNP IPPK ENST00000287996 human ensembl 70_37 -1 known missense c.800 p.R267Q 0.349 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 53 9 14.52 69 0 0.00 IPPK 64768 genome.wustl.edu 37 9 95418824 95418824 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 95418824 95418824 C T SNP IPPK ENST00000287996 human ensembl 70_37 -1 known missense c.139 p.E47K 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 62 8 11.43 62 0 0.00 IQCA1 79781 genome.wustl.edu 37 2 237272528 237272528 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 237272528 237272528 G C SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.1764 p.I588M 1.000 pfam_ATPase_AAA_core pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 114 60 34.48 152 0 0.00 IQCA1 79781 genome.wustl.edu 37 2 237300961 237300961 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 237300961 237300961 A G SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.1243 p.F415L 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 36 10 21.74 76 0 0.00 IQCA1 79781 genome.wustl.edu 37 2 237349739 237349739 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 237349739 237349739 G A SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.955 p.P319S 0.990 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 35 13 27.08 65 0 0.00 IQCA1 79781 genome.wustl.edu 37 2 237396739 237396739 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 237396739 237396739 C T SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.552 p.M184I 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 9 22 70.97 42 0 0.00 IQCA1P1 392843 genome.wustl.edu 37 7 150890455 150890455 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150890455 150890455 C G SNP IQCA1P1 ENST00000453127 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IQCA1P1 HGNC ENSG00000183016 48 28 36.84 52 0 0.00 IQCA1P1 392843 genome.wustl.edu 37 7 150900517 150900517 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 150900517 150900517 C G SNP IQCA1P1 ENST00000453127 human ensembl 70_37 -1 known rna NULL NULL 0.133 - - - no_errors IQCA1P1 HGNC ENSG00000183016 19 22 53.66 24 0 0.00 IQCB1 9657 genome.wustl.edu 37 3 121514315 121514315 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121514315 121514315 C G SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known missense c.975 p.Q325H 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 50 17 25.37 59 0 0.00 IQCB1 9657 genome.wustl.edu 37 3 121527805 121527805 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 121527805 121527805 G A SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known missense c.445 p.L149F 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 45 17 27.42 56 0 0.00 IQCB1 9657 genome.wustl.edu 37 3 121547406 121547406 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 121547406 121547406 G A SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 66 20 22.99 74 0 0.00 IQCC 55721 genome.wustl.edu 37 1 32673549 32673549 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 32673549 32673549 C T SNP IQCC ENST00000537469 human ensembl 70_37 +1 known missense c.1507 p.H503Y 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 39 17 30.36 48 0 0.00 IQCD 115811 genome.wustl.edu 37 12 113638562 113638562 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113638562 113638562 G C SNP IQCD ENST00000416617 human ensembl 70_37 -1 known silent c.786 p.L262 0.996 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 33 17 34.00 47 0 0.00 IQCE 23288 genome.wustl.edu 37 7 2608599 2608599 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 2608599 2608599 G A SNP IQCE ENST00000402050 human ensembl 70_37 +1 known silent c.96 p.R32 0.311 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 21 17 44.74 37 0 0.00 IQCE 23288 genome.wustl.edu 37 7 2637913 2637913 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 2637913 2637913 C T SNP IQCE ENST00000486730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IQCE HGNC ENSG00000106012 18 25 58.14 35 0 0.00 IQCF1 132141 genome.wustl.edu 37 3 51928921 51928921 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 51928921 51928921 G C SNP IQCF1 ENST00000310914 human ensembl 70_37 -1 known missense c.603 p.F201L 0.996 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 23 12 34.29 48 0 0.00 IQCF2 389123 genome.wustl.edu 37 3 51897275 51897275 + Silent SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 51897275 51897275 C T SNP IQCF2 ENST00000333127 human ensembl 70_37 +1 known silent c.384 p.I128 0.677 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 55 13 19.12 150 0 0.00 IQCF5-AS1 101928999 genome.wustl.edu 37 3 51908254 51908254 + RNA SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 51908254 51908254 G T SNP IQCF5-AS1 ENST00000440723 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IQCF5-AS1 HGNC ENSG00000235455 23 9 28.12 20 0 0.00 IQCF6 440956 genome.wustl.edu 37 3 51812702 51812702 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51812702 51812702 G C SNP IQCF6 ENST00000398780 human ensembl 70_37 -1 known missense c.261 p.I87M 0.997 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF6 HGNC ENSG00000214686 37 24 39.34 70 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197616441 197616441 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 197616441 197616441 G C SNP IQCG ENST00000485787 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IQCG HGNC ENSG00000114473 152 23 13.07 164 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197616500 197616500 + Nonsense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 197616500 197616500 G C SNP IQCG ENST00000265239 human ensembl 70_37 -1 known nonsense c.1283 p.S428* 0.002 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 225 37 14.07 215 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197618337 197618337 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 197618337 197618337 C A SNP IQCG ENST00000265239 human ensembl 70_37 -1 known nonsense c.1177 p.E393* 0.992 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 52 7 11.67 105 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197619502 197619502 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 197619502 197619502 C T SNP IQCG ENST00000265239 human ensembl 70_37 -1 known silent c.1092 p.K364 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 63 45 41.67 77 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197639564 197639564 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 197639564 197639564 G A SNP IQCG ENST00000265239 human ensembl 70_37 -1 known silent c.945 p.F315 1.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 20 19 48.72 26 0 0.00 IQCG 84223 genome.wustl.edu 37 3 197639609 197639609 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 197639609 197639609 C T SNP IQCG ENST00000265239 human ensembl 70_37 -1 known missense c.900 p.M300I 0.659 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 346 41 10.57 196 0 0.00 IQCH 64799 genome.wustl.edu 37 15 67571776 67571776 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 67571776 67571776 C G SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.313 p.Q105E 0.672 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 54 15 21.74 38 0 0.00 IQCH 64799 genome.wustl.edu 37 15 67649712 67649712 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 67649712 67649712 C T SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.667 p.P223S 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 26 9 25.71 38 0 0.00 IQCH 64799 genome.wustl.edu 37 15 67664960 67664960 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 67664960 67664960 C G SNP IQCH ENST00000335894 human ensembl 70_37 +1 known nonsense c.1265 p.S422* 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 164 42 20.29 240 0 0.00 IQCH 64799 genome.wustl.edu 37 15 67692531 67692531 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 67692531 67692531 G A SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.1985 p.R662Q 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 19 9 32.14 78 0 0.00 IQCJ-SCHIP1 100505385 genome.wustl.edu 37 3 159482297 159482297 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 159482297 159482297 C T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known silent c.357 p.A119 1.000 NULL pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 144 37 20.44 50 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90972868 90972868 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 90972868 90972868 G C SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.360 p.L120F 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 23 18 43.90 70 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90983760 90983760 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 90983760 90983760 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.562 p.E188K 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 24 16 40.00 42 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90986629 90986629 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90986629 90986629 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.832 p.E278K 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 15 4 21.05 20 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90986659 90986659 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90986659 90986659 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.862 p.E288K 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 17 4 19.05 16 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90992855 90992855 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 90992855 90992855 C T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.1142 p.A381V 0.369 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 10 2 16.67 30 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90996413 90996413 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 90996413 90996413 C T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.1376 p.S459L 0.937 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 83 19 18.63 48 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 90996474 90996474 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 15 90996474 90996474 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known silent c.1437 p.L479 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 70 64 47.76 61 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 91009278 91009278 + Splice_Site SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 91009278 91009278 G C SNP IQGAP1 ENST00000560738 human ensembl 70_37 +1 novel splice_site c.107-1 e3-1 1.000 - - - no_errors IQGAP1 HGNC ENSG00000140575 42 11 20.75 37 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 91017856 91017856 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 91017856 91017856 G T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.2715 p.Q905H 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 32 4 11.11 53 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 91026761 91026761 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 91026761 91026761 C G SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.3724 p.L1242V 0.995 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 43 14 24.56 42 0 0.00 IQGAP1 8826 genome.wustl.edu 37 15 91043332 91043332 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 91043332 91043332 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.4966 p.G1656R 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 74 20 21.28 58 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75757463 75757463 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 75757463 75757463 G A SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known missense c.115 p.E39K 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 43 19 30.65 81 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75866443 75866443 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 75866443 75866443 C G SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known silent c.342 p.V114 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 81 17 17.35 127 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75896663 75896663 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 75896663 75896663 G C SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known missense c.1098 p.L366F 0.959 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 67 36 34.95 97 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75960943 75960943 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 75960943 75960943 G C SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known missense c.2622 p.L874F 0.997 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 44 35 44.30 46 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75967719 75967719 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 75967719 75967719 C T SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known silent c.2979 p.I993 0.029 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 14 3 17.65 26 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 75970513 75970513 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 75970513 75970513 C G SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known nonsense c.3506 p.S1169* 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 3 2 40.00 21 0 0.00 IQGAP2 10788 genome.wustl.edu 37 5 76003274 76003274 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 76003274 76003274 G A SNP IQGAP2 ENST00000508410 human ensembl 70_37 +1 putative rna NULL NULL 0.018 - - - no_errors IQGAP2 HGNC ENSG00000145703 17 8 32.00 29 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156508623 156508623 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 156508623 156508623 C G SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known missense c.3259 p.E1087Q 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 109 28 20.44 79 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156508650 156508650 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 156508650 156508650 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known missense c.3232 p.L1078F 0.999 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 65 50 43.48 69 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156533585 156533585 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156533585 156533585 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known nonsense c.469 p.Q157* 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 49 30 37.97 61 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156534463 156534463 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156534463 156534463 C T SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known silent c.381 p.T127 0.120 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 148 26 14.69 170 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156534463 156534463 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156534463 156534463 C T SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known silent c.381 p.T127 0.120 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 63 19 23.17 35 0 0.00 IQGAP3 128239 genome.wustl.edu 37 1 156539199 156539199 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156539199 156539199 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known nonsense c.94 p.Q32* 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 85 30 26.09 106 0 0.00 IQSEC1 9922 genome.wustl.edu 37 3 12950878 12950878 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 12950878 12950878 A C SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.2515 p.L839V 1.000 smart_Pleckstrin_homology pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 36 25 40.98 108 0 0.00 IQSEC1 9922 genome.wustl.edu 37 3 12977762 12977762 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 12977762 12977762 C T SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.796 p.E266K 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 53 36 40.45 68 0 0.00 IQSEC1 9922 genome.wustl.edu 37 3 12983327 12983327 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 12983327 12983327 G A SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.104 p.S35F 0.766 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 4 14 77.78 19 0 0.00 IQSEC2 23096 genome.wustl.edu 37 X 53272579 53272579 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 53272579 53272579 G A SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2824 p.R942W 0.774 superfamily_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 42 43 50.59 66 0 0.00 IQSEC2 23096 genome.wustl.edu 37 X 53276287 53276287 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 53276287 53276287 G A SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known silent c.2613 p.L871 0.580 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 52 25 32.47 71 0 0.00 IQSEC2 23096 genome.wustl.edu 37 X 53278057 53278057 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 53278057 53278057 C G SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 21 9 30.00 26 0 0.00 IQSEC2 23096 genome.wustl.edu 37 X 53278057 53278057 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 53278057 53278057 C G SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 41 8 16.33 34 0 0.00 IQSEC2 23096 genome.wustl.edu 37 X 53296141 53296141 + RNA SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 53296141 53296141 T A SNP IQSEC2 ENST00000462054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IQSEC2 HGNC ENSG00000124313 18 84 82.35 110 0 0.00 IQSEC3 440073 genome.wustl.edu 37 12 176519 176519 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 176519 176519 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known silent c.471 p.P157 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 166 19 10.27 172 0 0.00 IQSEC3 440073 genome.wustl.edu 37 12 271225 271225 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 271225 271225 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known missense c.2577 p.M859I 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 34 5 12.82 28 0 0.00 IQSEC3 440073 genome.wustl.edu 37 12 274981 274981 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 274981 274981 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 60 7 10.29 57 0 0.00 IRAK1 3654 genome.wustl.edu 37 X 153278869 153278869 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153278869 153278869 C G SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known missense c.1555 p.E519Q 0.922 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC ENSG00000184216 19 6 24.00 34 0 0.00 IRAK1 3654 genome.wustl.edu 37 X 153282449 153282449 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153282449 153282449 G A SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known nonsense c.979 p.Q327* 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC ENSG00000184216 126 41 24.55 147 0 0.00 IRAK1 3654 genome.wustl.edu 37 X 153282519 153282519 + Splice_Site SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 153282519 153282519 C T SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known splice_site c.910-1 e8-1 0.004 - - - no_errors IRAK1 HGNC ENSG00000184216 110 50 31.25 120 1 0.83 IRAK1BP1 134728 genome.wustl.edu 37 6 79577322 79577322 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 79577322 79577322 G C SNP IRAK1BP1 ENST00000369940 human ensembl 70_37 +1 known missense c.29 p.R10P 0.987 NULL pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 62 34 35.42 87 0 0.00 IRAK1BP1 134728 genome.wustl.edu 37 6 79607603 79607603 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 79607603 79607603 G A SNP IRAK1BP1 ENST00000369940 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_DUF541 pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 27 3 10.00 38 0 0.00 IRAK2 3656 genome.wustl.edu 37 3 10219598 10219598 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 3 10219598 10219598 G A SNP IRAK2 ENST00000256458 human ensembl 70_37 +1 known silent c.171 p.T57 0.036 pfam_Death,superfamily_DEATH-like pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 18 15 45.45 56 0 0.00 IRAK2 3656 genome.wustl.edu 37 3 10251363 10251363 + Frame_Shift_Del DEL C C - TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 10251363 10251363 C - DEL IRAK2 ENST00000256458 human ensembl 70_37 +1 known frame_shift_del c.515 p.S172fs 0.013 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 30 15 33.33 37 0 0.00 IRAK3 11213 genome.wustl.edu 37 12 66605255 66605255 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 66605255 66605255 C G SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known missense c.466 p.Q156E 0.995 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 16 5 23.81 26 0 0.00 IRAK3 11213 genome.wustl.edu 37 12 66638416 66638416 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 66638416 66638416 C T SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known silent c.1038 p.I346 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 34 17 33.33 49 0 0.00 IRAK3 11213 genome.wustl.edu 37 12 66638954 66638954 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 66638954 66638954 C T SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known missense c.1226 p.P409L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 26 14 34.15 35 0 0.00 IREB2 3658 genome.wustl.edu 37 15 78783062 78783062 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 78783062 78783062 C G SNP IREB2 ENST00000258886 human ensembl 70_37 +1 known missense c.2283 p.I761M 0.300 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 44 12 21.43 44 0 0.00 IRF1 3659 genome.wustl.edu 37 5 131820129 131820129 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 131820129 131820129 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 66 23 25.84 79 0 0.00 IRF1 3659 genome.wustl.edu 37 5 131823640 131823640 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 131823640 131823640 G A SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known silent c.165 p.F55 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 20 13 39.39 19 0 0.00 IRF1 3659 genome.wustl.edu 37 5 131823709 131823709 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 131823709 131823709 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.96 p.M32I 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 7 3 30.00 13 0 0.00 IRF1 3659 genome.wustl.edu 37 5 131825132 131825132 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 131825132 131825132 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.39 p.E13D 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 31 14 31.11 58 0 0.00 IRF2 3660 genome.wustl.edu 37 4 185340682 185340682 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 185340682 185340682 C G SNP IRF2 ENST00000393593 human ensembl 70_37 -1 known missense c.128 p.R43T 0.991 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 150 26 14.77 174 0 0.00 IRF2BP1 26145 genome.wustl.edu 37 19 46388059 46388059 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46388059 46388059 C T SNP IRF2BP1 ENST00000302165 human ensembl 70_37 -1 known missense c.974 p.G325E 0.998 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 13 8 38.10 11 0 0.00 IRF2BP1 26145 genome.wustl.edu 37 19 46388496 46388496 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 46388496 46388496 C G SNP IRF2BP1 ENST00000302165 human ensembl 70_37 -1 known silent c.537 p.L179 0.949 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 60 9 13.04 79 0 0.00 IRF2BP1 26145 genome.wustl.edu 37 19 46388968 46388968 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 46388968 46388968 C G SNP IRF2BP1 ENST00000302165 human ensembl 70_37 -1 known missense c.65 p.W22S 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 9 10 52.63 29 0 0.00 IRF2BPL 64207 genome.wustl.edu 37 14 77492702 77492702 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 77492702 77492702 G A SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known silent c.1434 p.L478 0.908 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 22 10 31.25 29 0 0.00 IRF2BPL 64207 genome.wustl.edu 37 14 77492957 77492957 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 77492957 77492957 C T SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known silent c.1179 p.K393 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 30 24 44.44 64 0 0.00 IRF2BPL 64207 genome.wustl.edu 37 14 77493983 77493983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 77493983 77493983 G C SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known missense c.153 p.I51M 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 8 6 42.86 9 0 0.00 IRF3 3661 genome.wustl.edu 37 19 50168985 50168985 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50168985 50168985 G A SNP IRF3 ENST00000597180 human ensembl 70_37 -1 known rna NULL NULL 0.838 - - - no_errors IRF3 HGNC ENSG00000126456 32 14 29.79 59 0 0.00 IRF5 3663 genome.wustl.edu 37 7 128587362 128587362 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 128587362 128587362 C T SNP IRF5 ENST00000357234 human ensembl 70_37 +1 known missense c.560 p.P187L 0.317 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 2 9 75.00 10 0 0.00 IRF5 3663 genome.wustl.edu 37 7 128587476 128587476 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128587476 128587476 G A SNP IRF5 ENST00000357234 human ensembl 70_37 +1 known missense c.674 p.G225D 0.148 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 25 6 19.35 39 0 0.00 IRF6 3664 genome.wustl.edu 37 1 209961873 209961873 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 209961873 209961873 G C SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known missense c.1296 p.I432M 0.134 superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 30 11 26.83 31 0 0.00 IRF6 3664 genome.wustl.edu 37 1 209963024 209963024 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 209963024 209963024 G C SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 45 31 40.79 59 0 0.00 IRF6 3664 genome.wustl.edu 37 1 209969858 209969858 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 209969858 209969858 C T SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known missense c.214 p.D72N 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 107 27 20.15 86 0 0.00 IRF7 3665 genome.wustl.edu 37 11 613210 613210 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 613210 613210 G A SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known silent c.1272 p.F424 0.586 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 15 5 25.00 34 0 0.00 IRF7 3665 genome.wustl.edu 37 11 613857 613857 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 613857 613857 C T SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known missense c.814 p.A272T 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 8 4 33.33 23 0 0.00 IRF7 3665 genome.wustl.edu 37 11 613863 613863 + Nonsense_Mutation SNP C C A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 613863 613863 C A SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known nonsense c.808 p.E270* 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 11 5 31.25 23 0 0.00 IRF7 3665 genome.wustl.edu 37 11 614216 614216 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 614216 614216 C G SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known missense c.676 p.E226Q 0.970 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 15 9 37.50 18 0 0.00 IRF8 3394 genome.wustl.edu 37 16 85952378 85952378 + Silent SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 85952378 85952378 C A SNP IRF8 ENST00000268638 human ensembl 70_37 +1 known silent c.957 p.V319 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 8 60 88.24 42 0 0.00 IRF9 10379 genome.wustl.edu 37 14 24632271 24632271 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 24632271 24632271 G C SNP IRF9 ENST00000396864 human ensembl 70_37 +1 known missense c.277 p.E93Q 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 59 24 28.92 79 0 0.00 IRF9 10379 genome.wustl.edu 37 14 24635117 24635117 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24635117 24635117 C T SNP IRF9 ENST00000396864 human ensembl 70_37 +1 known silent c.1053 p.F351 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 18 17 48.57 33 0 0.00 IRGC 56269 genome.wustl.edu 37 19 44222731 44222731 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44222731 44222731 C T SNP IRGC ENST00000244314 human ensembl 70_37 +1 known silent c.21 p.P7 0.000 NULL pfam_Interferon-induced_GTPase - no_errors IRGC HGNC ENSG00000124449 28 19 40.43 44 0 0.00 IRGC 56269 genome.wustl.edu 37 19 44222854 44222854 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 44222854 44222854 C T SNP IRGC ENST00000244314 human ensembl 70_37 +1 known silent c.144 p.A48 0.598 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGC HGNC ENSG00000124449 57 18 24.00 66 0 0.00 IRGM 345611 genome.wustl.edu 37 5 150228060 150228060 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 150228060 150228060 G A SNP IRGM ENST00000522154 human ensembl 70_37 +1 known missense c.375 p.M125I 0.024 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGM HGNC ENSG00000237693 18 9 33.33 26 0 0.00 IRGQ 126298 genome.wustl.edu 37 19 44096997 44096997 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 44096997 44096997 G A SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known silent c.1053 p.G351 0.000 NULL NULL - no_errors IRGQ HGNC ENSG00000167378 43 19 30.16 63 0 0.00 IRGQ 126298 genome.wustl.edu 37 19 44097011 44097011 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 44097011 44097011 C G SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.1039 p.E347Q 0.079 NULL NULL - no_errors IRGQ HGNC ENSG00000167378 31 18 36.73 50 0 0.00 IRGQ 126298 genome.wustl.edu 37 19 44097210 44097210 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 44097210 44097210 G C SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known silent c.840 p.G280 0.005 NULL NULL - no_errors IRGQ HGNC ENSG00000167378 30 22 42.31 43 0 0.00 IRGQ 126298 genome.wustl.edu 37 19 44099333 44099333 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 44099333 44099333 C T SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.158 p.G53D 0.981 NULL NULL - no_errors IRGQ HGNC ENSG00000167378 17 15 46.88 18 0 0.00 IRGQ 126298 genome.wustl.edu 37 19 44099376 44099376 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44099376 44099376 C T SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.115 p.E39K 0.258 NULL NULL - no_errors IRGQ HGNC ENSG00000167378 39 15 27.78 42 0 0.00 IRS1 3667 genome.wustl.edu 37 2 227660829 227660829 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 227660829 227660829 C G SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known missense c.2626 p.E876Q 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 30 12 28.57 36 0 0.00 IRS1 3667 genome.wustl.edu 37 2 227662668 227662668 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 227662668 227662668 C T SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 42 22 34.38 62 0 0.00 IRS1 3667 genome.wustl.edu 37 2 227662864 227662864 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 227662864 227662864 C T SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known silent c.591 p.L197 0.992 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 34 16 32.00 51 0 0.00 IRS2 8660 genome.wustl.edu 37 13 110434810 110434810 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 110434810 110434810 G A SNP IRS2 ENST00000375856 human ensembl 70_37 -1 known silent c.3591 p.G1197 0.014 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 9 6 40.00 13 0 0.00 IRS2 8660 genome.wustl.edu 37 13 110438357 110438357 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 110438357 110438357 C T SNP IRS2 ENST00000375856 human ensembl 70_37 -1 known missense c.44 p.G15E 0.171 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 19 8 29.63 23 0 0.00 IRS4 8471 genome.wustl.edu 37 X 107976265 107976265 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 107976265 107976265 G A SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known missense c.3310 p.P1104S 0.623 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 288 95 24.80 282 0 0.00 IRS4 8471 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 70_37 -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 30 5 14.29 24 0 0.00 IRS4 8471 genome.wustl.edu 37 X 107978807 107978807 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 107978807 107978807 C G SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known silent c.768 p.L256 0.997 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 66 11 14.29 67 0 0.00 IRS4 8471 genome.wustl.edu 37 X 107979074 107979074 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107979074 107979074 G A SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known silent c.501 p.L167 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 25 22 46.81 45 0 0.00 IRS4 8471 genome.wustl.edu 37 X 107979294 107979294 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 107979294 107979294 C T SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known missense c.281 p.R94H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 292 35 10.70 131 0 0.00 IRX1 79192 genome.wustl.edu 37 5 3599344 3599344 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 3599344 3599344 G A SNP IRX1 ENST00000302006 human ensembl 70_37 +1 known silent c.282 p.S94 0.030 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX1 HGNC ENSG00000170549 18 10 35.71 33 0 0.00 IRX1 79192 genome.wustl.edu 37 5 3599746 3599746 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 3599746 3599746 C T SNP IRX1 ENST00000302006 human ensembl 70_37 +1 known silent c.684 p.I228 0.990 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX1 HGNC ENSG00000170549 37 6 13.95 31 0 0.00 IRX2 153572 genome.wustl.edu 37 5 2749029 2749029 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 2749029 2749029 C T SNP IRX2 ENST00000302057 human ensembl 70_37 -1 known missense c.793 p.D265N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX2 HGNC ENSG00000170561 31 6 16.22 32 0 0.00 IRX2 153572 genome.wustl.edu 37 5 2749785 2749785 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 2749785 2749785 C T SNP IRX2 ENST00000302057 human ensembl 70_37 -1 known silent c.366 p.T122 0.996 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX2 HGNC ENSG00000170561 47 93 66.43 63 0 0.00 IRX4 50805 genome.wustl.edu 37 5 1879705 1879705 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 1879705 1879705 C T SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.649 p.E217K 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 74 20 21.28 35 0 0.00 IRX4 50805 genome.wustl.edu 37 5 1879762 1879762 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1879762 1879762 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.592 p.R198W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 35 19 35.19 85 0 0.00 IRX4 50805 genome.wustl.edu 37 5 1881980 1881980 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1881980 1881980 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.239 p.S80L 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 1 7 87.50 19 0 0.00 IRX4 50805 genome.wustl.edu 37 5 1882016 1882016 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 1882016 1882016 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.203 p.A68V 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 13 5 27.78 10 0 0.00 IRX5 10265 genome.wustl.edu 37 16 54967571 54967571 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 54967571 54967571 C T SNP IRX5 ENST00000394636 human ensembl 70_37 +1 known missense c.1238 p.T413M 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX5 HGNC ENSG00000176842 47 14 22.95 65 0 0.00 IRX6 79190 genome.wustl.edu 37 16 55362828 55362828 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 55362828 55362828 C T SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known missense c.938 p.A313V 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC ENSG00000159387 39 24 38.10 81 0 0.00 IRX6 79190 genome.wustl.edu 37 16 55362858 55362858 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 55362858 55362858 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known missense c.968 p.G323E 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC ENSG00000159387 34 12 26.09 44 0 0.00 IRX6 79190 genome.wustl.edu 37 16 55362886 55362886 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 16 55362886 55362886 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known silent c.996 p.A332 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC ENSG00000159387 32 4 10.81 72 0 0.00 IRX6 79190 genome.wustl.edu 37 16 55363210 55363210 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 55363210 55363210 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known silent c.1320 p.P440 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC ENSG00000159387 17 10 37.04 30 0 0.00 ISG15 9636 genome.wustl.edu 37 1 949717 949717 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 949717 949717 C T SNP ISG15 ENST00000379389 human ensembl 70_37 +1 known silent c.357 p.D119 0.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ISG15 HGNC ENSG00000187608 75 59 44.03 114 0 0.00 ISG20L2 81875 genome.wustl.edu 37 1 156697518 156697518 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156697518 156697518 C G SNP ISG20L2 ENST00000469074 human ensembl 70_37 -1 known rna NULL NULL 0.348 - - - no_errors ISG20L2 HGNC ENSG00000143319 15 6 28.57 28 0 0.00 ISL1 3670 genome.wustl.edu 37 5 50683411 50683411 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 50683411 50683411 C T SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known silent c.306 p.I102 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 7 9 56.25 34 0 0.00 ISL1 3670 genome.wustl.edu 37 5 50683468 50683468 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 50683468 50683468 G A SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known silent c.363 p.A121 0.997 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 2 10 83.33 26 0 0.00 ISL1 3670 genome.wustl.edu 37 5 50685569 50685569 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 50685569 50685569 G C SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known missense c.568 p.E190Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 37 5 11.90 66 0 0.00 ISL2 64843 genome.wustl.edu 37 15 76632843 76632843 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 76632843 76632843 C G SNP ISL2 ENST00000290759 human ensembl 70_37 +1 known missense c.738 p.D246E 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL2 HGNC ENSG00000159556 58 10 14.71 82 0 0.00 ISLR 3671 genome.wustl.edu 37 15 74467327 74467327 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 74467327 74467327 C T SNP ISLR ENST00000249842 human ensembl 70_37 +1 known missense c.128 p.S43F 0.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like - no_errors ISLR HGNC ENSG00000129009 48 22 31.43 90 0 0.00 ISLR2 57611 genome.wustl.edu 37 15 74425398 74425398 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 74425398 74425398 C G SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known silent c.303 p.L101 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 25 15 37.50 34 0 0.00 ISLR2 57611 genome.wustl.edu 37 15 74426565 74426565 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 74426565 74426565 G A SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known silent c.1470 p.A490 0.994 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 7 6 46.15 11 0 0.00 ISLR2 57611 genome.wustl.edu 37 15 74426936 74426936 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 74426936 74426936 G T SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known missense c.1841 p.C614F 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 26 12 31.58 54 0 0.00 ISM2 145501 genome.wustl.edu 37 14 77951065 77951065 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 77951065 77951065 C T SNP ISM2 ENST00000342219 human ensembl 70_37 -1 known silent c.339 p.P113 0.965 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 36 21 36.84 42 0 0.00 ISOC1 51015 genome.wustl.edu 37 5 128440651 128440651 + Silent SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 128440651 128440651 C G SNP ISOC1 ENST00000173527 human ensembl 70_37 +1 known silent c.312 p.L104 0.986 superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC1 HGNC ENSG00000066583 18 16 47.06 23 0 0.00 ISPD 729920 genome.wustl.edu 37 7 16255786 16255786 + Nonsense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 16255786 16255786 G A SNP ISPD ENST00000407010 human ensembl 70_37 -1 known nonsense c.1156 p.Q386* 0.987 NULL pfam_ISPD_synthase - no_errors ISPD HGNC ENSG00000214960 45 16 26.23 44 0 0.00 ISY1 57461 genome.wustl.edu 37 3 128849028 128849028 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128849028 128849028 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ENSG00000240682 113 26 18.57 46 0 0.00 ISY1 57461 genome.wustl.edu 37 3 128849395 128849395 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 128849395 128849395 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.814 p.E272K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ENSG00000240682 40 6 13.04 44 0 0.00 ISY1 57461 genome.wustl.edu 37 3 128852970 128852970 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 128852970 128852970 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.676 p.E226K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ENSG00000240682 30 18 36.73 32 0 0.00 ISY1 57461 genome.wustl.edu 37 3 128853782 128853782 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 128853782 128853782 C G SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.500 p.R167T 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ENSG00000240682 32 27 45.76 38 0 0.00 ISYNA1 51477 genome.wustl.edu 37 19 18547798 18547798 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18547798 18547798 C T SNP ISYNA1 ENST00000338128 human ensembl 70_37 -1 known missense c.400 p.D134N 1.000 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 6 5 45.45 10 0 0.00 ITCH 83737 genome.wustl.edu 37 20 33026421 33026421 + Missense_Mutation SNP A A C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 33026421 33026421 A C SNP ITCH ENST00000262650 human ensembl 70_37 +1 known missense c.787 p.T263P 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 41 22 34.92 56 0 0.00 ITCH 83737 genome.wustl.edu 37 20 33030037 33030037 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 33030037 33030037 C T SNP ITCH ENST00000262650 human ensembl 70_37 +1 known silent c.1017 p.H339 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 9 13 59.09 9 0 0.00 ITCH 83737 genome.wustl.edu 37 20 33077688 33077688 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 33077688 33077688 G C SNP ITCH ENST00000262650 human ensembl 70_37 +1 known missense c.2399 p.R800P 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 63 10 13.70 59 0 0.00 ITFG1 81533 genome.wustl.edu 37 16 47195728 47195728 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 47195728 47195728 C G SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1594 p.E532Q 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 48 22 31.43 92 0 0.00 ITFG1 81533 genome.wustl.edu 37 16 47252809 47252809 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 47252809 47252809 C T SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1423 p.D475N 0.999 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 38 10 20.83 39 0 0.00 ITFG1 81533 genome.wustl.edu 37 16 47292640 47292640 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 47292640 47292640 G T SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1233 p.D411E 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 33 4 10.81 38 0 0.00 ITFG1 81533 genome.wustl.edu 37 16 47487999 47487999 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 47487999 47487999 G A SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known silent c.352 p.L118 0.459 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 50 18 26.47 64 0 0.00 ITFG3 83986 genome.wustl.edu 37 16 310063 310063 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 310063 310063 G C SNP ITFG3 ENST00000301678 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.010 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 17 22 56.41 36 0 0.00 ITFG3 83986 genome.wustl.edu 37 16 314676 314676 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 314676 314676 G C SNP ITFG3 ENST00000301678 human ensembl 70_37 +1 known missense c.1408 p.E470Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 92 48 34.29 155 1 0.64 ITFG3 83986 genome.wustl.edu 37 16 318797 318797 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 318797 318797 G C SNP ITFG3 ENST00000450082 human ensembl 70_37 +1 known missense c.1568 p.R523T 0.002 NULL superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 30 15 33.33 71 0 0.00 ITGA1 3672 genome.wustl.edu 37 5 52206101 52206101 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 52206101 52206101 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.1709 p.R570H 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 4 4 50.00 19 0 0.00 ITGA1 3672 genome.wustl.edu 37 5 52206174 52206174 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 52206174 52206174 G C SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known silent c.1782 p.P594 0.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 62 26 29.55 81 0 0.00 ITGA1 3672 genome.wustl.edu 37 5 52223484 52223484 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 52223484 52223484 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.2684 p.R895K 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 17 21 55.26 30 0 0.00 ITGA1 3672 genome.wustl.edu 37 5 52243212 52243212 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 52243212 52243212 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.3416 p.R1139K 0.991 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 34 15 30.61 48 0 0.00 ITGA10 8515 genome.wustl.edu 37 1 145532812 145532812 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 145532812 145532812 C T SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known silent c.1131 p.F377 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 192 44 18.64 200 1 0.50 ITGA10 8515 genome.wustl.edu 37 1 145534935 145534935 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 145534935 145534935 G A SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known missense c.1838 p.R613Q 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 46 12 20.69 43 0 0.00 ITGA10 8515 genome.wustl.edu 37 1 145538296 145538296 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 145538296 145538296 C T SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known silent c.2823 p.L941 0.895 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 24 13 35.14 38 0 0.00 ITGA10 8515 genome.wustl.edu 37 1 145539770 145539770 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 145539770 145539770 C A SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known missense c.3202 p.L1068M 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 34 4 10.53 34 0 0.00 ITGA11 22801 genome.wustl.edu 37 15 68613817 68613817 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 68613817 68613817 C G SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.2347 p.E783Q 0.989 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 10 8 44.44 36 0 0.00 ITGA11 22801 genome.wustl.edu 37 15 68624304 68624304 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 68624304 68624304 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.1663 p.D555N 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 34 27 44.26 62 0 0.00 ITGA11 22801 genome.wustl.edu 37 15 68624760 68624760 + Silent SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 68624760 68624760 C G SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known silent c.1482 p.V494 0.030 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 58 23 28.40 76 0 0.00 ITGA11 22801 genome.wustl.edu 37 15 68649528 68649528 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 68649528 68649528 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.710 p.G237E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 20 16 44.44 50 0 0.00 ITGA11 22801 genome.wustl.edu 37 15 68649536 68649536 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 68649536 68649536 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known silent c.702 p.Q234 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 41 9 18.00 59 0 0.00 ITGA2 3673 genome.wustl.edu 37 5 52344281 52344281 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 52344281 52344281 C T SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known missense c.476 p.S159L 0.004 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 34 27 44.26 41 0 0.00 ITGA2 3673 genome.wustl.edu 37 5 52351382 52351382 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 52351382 52351382 C G SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known nonsense c.794 p.S265* 0.989 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 19 4 17.39 38 0 0.00 ITGA2 3673 genome.wustl.edu 37 5 52351441 52351441 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 52351441 52351441 G A SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 23 17 42.50 31 0 0.00 ITGA2 3673 genome.wustl.edu 37 5 52386428 52386428 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 52386428 52386428 G A SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known silent c.3545 p.*1182 0.999 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 11 8 42.11 28 0 0.00 ITGA2B 3674 genome.wustl.edu 37 17 42463033 42463033 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 42463033 42463033 C G SNP ITGA2B ENST00000262407 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.807 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 41 6 12.77 42 0 0.00 ITGA3 3675 genome.wustl.edu 37 17 48145499 48145499 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 48145499 48145499 G A SNP ITGA3 ENST00000320031 human ensembl 70_37 +1 known missense c.494 p.R165Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 20 14 41.18 35 0 0.00 ITGA3 3675 genome.wustl.edu 37 17 48156607 48156607 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48156607 48156607 C G SNP ITGA3 ENST00000320031 human ensembl 70_37 +1 known silent c.2568 p.L856 0.998 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 28 27 49.09 50 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182339728 182339728 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 182339728 182339728 G C SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 37 10 21.28 58 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182346369 182346369 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 182346369 182346369 G T SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known nonsense c.799 p.E267* 0.999 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 18 3 14.29 45 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182347104 182347104 + Silent SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 182347104 182347104 T A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known silent c.858 p.I286 0.607 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 57 26 31.33 70 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182360122 182360122 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 182360122 182360122 C A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1364 p.S455Y 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 63 35 35.71 129 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182360128 182360128 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 182360128 182360128 C T SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1370 p.S457F 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 51 45 46.88 86 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182363438 182363438 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 182363438 182363438 G A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known silent c.1629 p.V543 0.367 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 23 6 20.69 57 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182374496 182374496 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 182374496 182374496 C G SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1807 p.L603V 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 39 35 47.30 64 0 0.00 ITGA4 3676 genome.wustl.edu 37 2 182400201 182400201 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 182400201 182400201 G C SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.3046 p.E1016Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 20 10 33.33 33 0 0.00 ITGA5 3678 genome.wustl.edu 37 12 54793645 54793646 + Splice_Site INS - - A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 54793645 54793646 - A INS ITGA5 ENST00000293379 human ensembl 70_37 -1 known splice_site_ins c.2727+2_2727+1 e26+2 0.966:0.998 - - - no_errors ITGA5 HGNC ENSG00000161638 31 7 18.42 53 0 0.00 ITGA5 3678 genome.wustl.edu 37 12 54797013 54797013 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 54797013 54797013 C A SNP ITGA5 ENST00000293379 human ensembl 70_37 -1 known missense c.1872 p.R624S 0.730 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 37 16 30.19 55 0 0.00 ITGA6 3655 genome.wustl.edu 37 2 173352121 173352121 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 173352121 173352121 G C SNP ITGA6 ENST00000264106 human ensembl 70_37 +1 known silent c.2217 p.L739 0.014 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 40 16 28.57 36 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56080064 56080064 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56080064 56080064 G C SNP ITGA7 ENST00000257880 human ensembl 70_37 -1 known missense c.3350 p.S1117C 0.670 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 16 4 20.00 30 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56087878 56087878 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 56087878 56087878 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.2594 p.S865F 0.996 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 26 3 10.00 38 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56090710 56090710 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56090710 56090710 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known silent c.1842 p.V614 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 14 19 57.58 29 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56091557 56091557 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56091557 56091557 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.1463 p.S488L 0.999 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 89 57 39.04 145 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56092581 56092581 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56092581 56092581 C T SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.1043 p.R348H 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 28 24 46.15 46 0 0.00 ITGA7 3679 genome.wustl.edu 37 12 56094855 56094855 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 56094855 56094855 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known silent c.498 p.L166 0.627 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 68 25 26.60 97 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15561412 15561412 + Splice_Site SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 10 15561412 15561412 C T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known splice_site c.2983-1 e29-1 1.000 - - - no_errors ITGA8 HGNC ENSG00000077943 34 5 12.82 34 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15590516 15590516 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 10 15590516 15590516 C G SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known missense c.2818 p.E940Q 0.726 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 50 32 39.02 79 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15590565 15590565 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15590565 15590565 A G SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known silent c.2769 p.N923 0.687 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 17 13 43.33 43 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15617594 15617594 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 15617594 15617594 C T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known splice_site c.2373-1 e24-1 1.000 - - - no_errors ITGA8 HGNC ENSG00000077943 49 48 49.48 96 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15634299 15634299 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 15634299 15634299 G T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known missense c.2216 p.S739Y 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 24 4 14.29 36 0 0.00 ITGA8 8516 genome.wustl.edu 37 10 15649714 15649714 + Nonsense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 15649714 15649714 T A SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known nonsense c.1726 p.K576* 0.007 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 184 113 38.05 341 0 0.00 ITGA9 3680 genome.wustl.edu 37 3 37544680 37544680 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 37544680 37544680 G A SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known silent c.624 p.V208 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 51 16 23.88 67 0 0.00 ITGA9 3680 genome.wustl.edu 37 3 37565067 37565067 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 37565067 37565067 C T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known missense c.1292 p.S431L 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 39 26 40.00 65 0 0.00 ITGA9 3680 genome.wustl.edu 37 3 37785523 37785523 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 37785523 37785523 C T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known nonsense c.2431 p.Q811* 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 25 9 26.47 30 0 0.00 ITGA9 3680 genome.wustl.edu 37 3 37792021 37792021 + Silent SNP A A T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 37792021 37792021 A T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known silent c.2502 p.S834 0.034 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 46 25 35.21 52 0 0.00 ITGAD 3681 genome.wustl.edu 37 16 31424553 31424553 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 31424553 31424553 C G SNP ITGAD ENST00000389202 human ensembl 70_37 +1 known nonsense c.1982 p.S661* 0.006 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 26 6 18.75 29 0 0.00 ITGAD 3681 genome.wustl.edu 37 16 31434714 31434714 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 16 31434714 31434714 C T SNP ITGAD ENST00000389202 human ensembl 70_37 +1 known silent c.2901 p.N967 0.012 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 48 24 33.33 79 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3643106 3643106 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3643106 3643106 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.2515 p.V839I 0.006 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 28 14 33.33 42 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3655001 3655001 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 3655001 3655001 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1836 p.F612 0.002 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 52 21 28.77 58 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3655127 3655127 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 3655127 3655127 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1710 p.P570 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 48 14 22.58 38 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3656605 3656605 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 3656605 3656605 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1647 p.Y549 0.109 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 40 33 45.21 41 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3658411 3658411 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 3658411 3658411 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.1384 p.G462S 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 30 7 18.92 20 0 0.00 ITGAE 3682 genome.wustl.edu 37 17 3661017 3661017 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 3661017 3661017 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.1003 p.E335K 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 471 219 31.69 631 0 0.00 ITGAL 3683 genome.wustl.edu 37 16 30485563 30485563 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30485563 30485563 C T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known silent c.108 p.F36 0.904 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 16 11 40.74 25 0 0.00 ITGAL 3683 genome.wustl.edu 37 16 30490497 30490497 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30490497 30490497 G T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.413 p.G138V 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 49 6 10.91 48 0 0.00 ITGAL 3683 genome.wustl.edu 37 16 30495167 30495167 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30495167 30495167 G A SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.742 p.E248K 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 35 13 27.08 47 0 0.00 ITGAL 3683 genome.wustl.edu 37 16 30495257 30495257 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30495257 30495257 G T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.832 p.D278Y 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 22 12 35.29 63 0 0.00 ITGAL 3683 genome.wustl.edu 37 16 30518142 30518142 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30518142 30518142 C T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.2473 p.P825S 0.166 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 28 14 33.33 29 0 0.00 ITGAM 3684 genome.wustl.edu 37 16 31273048 31273048 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 31273048 31273048 G A SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known missense c.64 p.E22K 0.050 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 32 11 25.58 77 0 0.00 ITGAM 3684 genome.wustl.edu 37 16 31282320 31282320 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31282320 31282320 C G SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known missense c.473 p.S158C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 30 27 47.37 87 0 0.00 ITGAM 3684 genome.wustl.edu 37 16 31282368 31282368 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 31282368 31282368 C G SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known nonsense c.521 p.S174* 0.003 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 234 30 11.32 285 0 0.00 ITGAM 3684 genome.wustl.edu 37 16 31336831 31336831 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31336831 31336831 C T SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known missense c.2519 p.S840L 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 55 20 26.67 80 0 0.00 ITGAV 3685 genome.wustl.edu 37 2 187455218 187455218 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 187455218 187455218 C T SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known silent c.153 p.F51 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 14 3 17.65 9 0 0.00 ITGAV 3685 genome.wustl.edu 37 2 187465067 187465067 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 187465067 187465067 C T SNP ITGAV ENST00000433736 human ensembl 70_37 +1 known silent c.6 p.L2 0.002 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 45 15 25.00 42 0 0.00 ITGAV 3685 genome.wustl.edu 37 2 187529285 187529285 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 187529285 187529285 C G SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known missense c.1990 p.Q664E 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 234 69 22.77 341 0 0.00 ITGAV 3685 genome.wustl.edu 37 2 187531487 187531487 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 187531487 187531487 G A SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known silent c.2223 p.V741 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 33 12 26.67 27 0 0.00 ITGAX 3687 genome.wustl.edu 37 16 31368669 31368669 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 31368669 31368669 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known silent c.414 p.L138 0.034 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 42 5 10.64 43 0 0.00 ITGAX 3687 genome.wustl.edu 37 16 31371752 31371752 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31371752 31371752 G A SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known missense c.829 p.D277N 0.026 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 16 7 30.43 14 0 0.00 ITGAX 3687 genome.wustl.edu 37 16 31372399 31372399 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31372399 31372399 C G SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known missense c.877 p.Q293E 0.018 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 17 12 41.38 34 0 0.00 ITGAX 3687 genome.wustl.edu 37 16 31382737 31382737 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 31382737 31382737 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known nonsense c.1924 p.Q642* 0.003 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 25 14 35.90 27 0 0.00 ITGAX 3687 genome.wustl.edu 37 16 31382737 31382737 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 31382737 31382737 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known nonsense c.1924 p.Q642* 0.003 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 47 25 33.78 78 0 0.00 ITGB1 3688 genome.wustl.edu 37 10 33199333 33199333 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 33199333 33199333 C T SNP ITGB1 ENST00000374956 human ensembl 70_37 -1 known missense c.1982 p.C661Y 0.999 pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 80 14 14.89 71 0 0.00 ITGB1 3688 genome.wustl.edu 37 10 33218789 33218789 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 33218789 33218789 G C SNP ITGB1 ENST00000374956 human ensembl 70_37 -1 known missense c.337 p.Q113E 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 45 9 16.67 80 0 0.00 ITGB1BP1 9270 genome.wustl.edu 37 2 9552384 9552384 + Frame_Shift_Del DEL T T - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 9552384 9552384 T - DEL ITGB1BP1 ENST00000483795 human ensembl 70_37 -1 known frame_shift_del c.302 p.N101fs 0.000 NULL pfam_Integrin-bd_ICAP-1 - no_errors ITGB1BP1 HGNC ENSG00000119185 43 6 12.24 45 0 0.00 ITGB1BP1 9270 genome.wustl.edu 37 2 9554375 9554375 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 9554375 9554375 G C SNP ITGB1BP1 ENST00000355346 human ensembl 70_37 -1 known missense c.83 p.S28C 1.000 pfam_Integrin-bd_ICAP-1 pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 17 21 55.26 22 0 0.00 ITGB1BP2 26548 genome.wustl.edu 37 X 70521661 70521661 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70521661 70521661 C G SNP ITGB1BP2 ENST00000373829 human ensembl 70_37 +1 known missense c.5 p.S2C 1.000 pfam_CHORD pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors ITGB1BP2 HGNC ENSG00000147166 20 16 44.44 62 0 0.00 ITGB1BP2 26548 genome.wustl.edu 37 X 70523593 70523593 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 70523593 70523593 C T SNP ITGB1BP2 ENST00000465388 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors ITGB1BP2 HGNC ENSG00000147166 13 4 23.53 24 0 0.00 ITGB1BP2 26548 genome.wustl.edu 37 X 70524984 70524984 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70524984 70524984 C T SNP ITGB1BP2 ENST00000373829 human ensembl 70_37 +1 known missense c.986 p.S329L 1.000 NULL pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors ITGB1BP2 HGNC ENSG00000147166 22 8 26.67 22 0 0.00 ITGB2 3689 genome.wustl.edu 37 21 46320235 46320235 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 46320235 46320235 G A SNP ITGB2 ENST00000302347 human ensembl 70_37 -1 known silent c.897 p.F299 0.785 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 46 29 38.67 99 0 0.00 ITGB2 3689 genome.wustl.edu 37 21 46330647 46330647 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 46330647 46330647 G A SNP ITGB2 ENST00000302347 human ensembl 70_37 -1 known silent c.51 p.L17 0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 66 25 27.47 94 0 0.00 ITGB3 3690 genome.wustl.edu 37 17 45368382 45368382 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 45368382 45368382 C G SNP ITGB3 ENST00000262017 human ensembl 70_37 +1 known missense c.1188 p.F396L 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 120 40 25.00 200 0 0.00 ITGB3 3690 genome.wustl.edu 37 17 45369886 45369886 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 45369886 45369886 G A SNP ITGB3 ENST00000262017 human ensembl 70_37 +1 known missense c.1642 p.E548K 1.000 pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 18 11 37.93 47 0 0.00 ITGB3 3690 genome.wustl.edu 37 17 45405719 45405719 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 45405719 45405719 G C SNP ITGB3 ENST00000435993 human ensembl 70_37 +1 known missense c.2245 p.D749H 0.992 NULL pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_EGF_extracell,pfam_Integrin_bsu_cyt,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 19 14 42.42 22 0 0.00 ITGB3BP 23421 genome.wustl.edu 37 1 63906588 63906588 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 63906588 63906588 A C SNP ITGB3BP ENST00000461681 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 14 13 48.15 32 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73726397 73726397 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73726397 73726397 G C SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known missense c.814 p.D272H 0.998 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 18 15 45.45 41 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73726984 73726984 + Nonsense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 73726984 73726984 C G SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known nonsense c.1031 p.S344* 0.994 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 29 15 34.09 45 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73728256 73728256 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 73728256 73728256 C T SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known missense c.1390 p.R464W 0.001 pirsf_Integrin_bsu-4 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 32 14 30.43 45 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73738775 73738775 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 73738775 73738775 C T SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known silent c.2895 p.I965 0.606 pirsf_Integrin_bsu-4 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 31 17 35.42 42 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73738843 73738843 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73738843 73738843 G C SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known splice_site c.2962+1 e24+1 1.000 - - - no_errors ITGB4 HGNC ENSG00000132470 33 13 28.26 53 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73745051 73745051 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 17 73745051 73745051 G A SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known missense c.3241 p.V1081I 0.449 pfam_Calx_beta,smart_Calx_beta,pirsf_Integrin_bsu-4 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 54 12 18.18 62 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73751271 73751271 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 73751271 73751271 C T SNP ITGB4 ENST00000339591 human ensembl 70_37 +1 known missense c.4484 p.P1495L 0.995 pirsf_Integrin_bsu-4 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 129 129 50.00 45 0 0.00 ITGB4 3691 genome.wustl.edu 37 17 73752597 73752597 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 17 73752597 73752597 G A SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known missense c.4796 p.R1599H 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 2 27 93.10 58 0 0.00 ITGB5 3693 genome.wustl.edu 37 3 124482543 124482543 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 124482543 124482543 T G SNP ITGB5 ENST00000296181 human ensembl 70_37 -1 known missense c.2327 p.K776T 1.000 pfam_Integrin_bsu_cyt,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 37 8 17.78 106 0 0.00 ITGB5 3693 genome.wustl.edu 37 3 124567329 124567329 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 124567329 124567329 G C SNP ITGB5 ENST00000296181 human ensembl 70_37 -1 known silent c.438 p.L146 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 21 13 38.24 26 0 0.00 ITGB6 3694 genome.wustl.edu 37 2 160964291 160964291 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 160964291 160964291 C T SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known missense c.2167 p.G723R 1.000 pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 28 15 34.88 29 0 0.00 ITGB6 3694 genome.wustl.edu 37 2 160980321 160980321 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 160980321 160980321 C T SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known silent c.1962 p.A654 0.003 pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 32 15 31.91 57 0 0.00 ITGB6 3694 genome.wustl.edu 37 2 160998513 160998513 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 160998513 160998513 G A SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known silent c.1087 p.L363 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 24 5 17.24 42 0 0.00 ITGB6 3694 genome.wustl.edu 37 2 161029180 161029180 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 161029180 161029180 G C SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known missense c.821 p.S274C 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 37 15 28.30 27 0 0.00 ITGB7 3695 genome.wustl.edu 37 12 53589846 53589846 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 53589846 53589846 G C SNP ITGB7 ENST00000267082 human ensembl 70_37 -1 known silent c.954 p.L318 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 60 36 37.50 49 0 0.00 ITGB7 3695 genome.wustl.edu 37 12 53591317 53591318 + Frame_Shift_Ins INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53591317 53591318 - A INS ITGB7 ENST00000267082 human ensembl 70_37 -1 known frame_shift_ins c.534_533 p.L179fs 0.993:0.995 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 16 16 50.00 51 0 0.00 ITGB7 3695 genome.wustl.edu 37 12 53591319 53591319 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53591319 53591319 G A SNP ITGB7 ENST00000267082 human ensembl 70_37 -1 known silent c.532 p.L178 0.966 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 15 17 53.12 52 0 0.00 ITGB8 3696 genome.wustl.edu 37 7 20406693 20406693 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 20406693 20406693 G T SNP ITGB8 ENST00000222573 human ensembl 70_37 +1 known missense c.272 p.S91I 1.000 pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 23 3 11.54 37 0 0.00 ITGB8 3696 genome.wustl.edu 37 7 20420367 20420367 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 20420367 20420367 G C SNP ITGB8 ENST00000222573 human ensembl 70_37 +1 known missense c.714 p.E238D 0.048 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 28 24 45.28 32 0 0.00 ITGBL1 9358 genome.wustl.edu 37 13 102250542 102250542 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 102250542 102250542 C T SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known missense c.908 p.A303V 0.144 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 56 7 11.11 85 0 0.00 ITGBL1 9358 genome.wustl.edu 37 13 102344970 102344970 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 13 102344970 102344970 C T SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known missense c.1051 p.P351S 0.914 pfam_EGF_extracell pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 149 21 12.35 200 0 0.00 ITIH1 3697 genome.wustl.edu 37 3 52816048 52816048 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 3 52816048 52816048 C T SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.780 p.Y260 0.141 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 15 7 31.82 36 0 0.00 ITIH1 3697 genome.wustl.edu 37 3 52825552 52825552 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 52825552 52825552 C T SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.2514 p.I838 0.538 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 53 18 25.35 86 0 0.00 ITIH1 3697 genome.wustl.edu 37 3 52825555 52825555 + Silent SNP T T G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 52825555 52825555 T G SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.2517 p.G839 0.869 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 16 12 40.00 33 0 0.00 ITIH2 3698 genome.wustl.edu 37 10 7759602 7759602 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 7759602 7759602 G C SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.481 p.D161H 0.996 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 21 12 36.36 42 0 0.00 ITIH2 3698 genome.wustl.edu 37 10 7769676 7769676 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 7769676 7769676 C G SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.1164 p.I388M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 35 27 43.55 74 0 0.00 ITIH2 3698 genome.wustl.edu 37 10 7791170 7791170 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 7791170 7791170 G A SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.2714 p.R905K 0.998 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 44 19 30.16 85 0 0.00 ITIH3 3699 genome.wustl.edu 37 3 52830650 52830650 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 52830650 52830650 A G SNP ITIH3 ENST00000449956 human ensembl 70_37 +1 known missense c.268 p.T90A 1.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 37 16 30.19 77 0 0.00 ITIH3 3699 genome.wustl.edu 37 3 52835148 52835148 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52835148 52835148 G A SNP ITIH3 ENST00000449956 human ensembl 70_37 +1 known missense c.1369 p.D457N 0.003 smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 21 11 34.38 41 0 0.00 ITIH4 3700 genome.wustl.edu 37 3 52847505 52847505 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 52847505 52847505 C T SNP ITIH4 ENST00000266041 human ensembl 70_37 -1 known missense c.2725 p.E909K 0.978 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 16 10 38.46 70 0 0.00 ITIH4 3700 genome.wustl.edu 37 3 52860028 52860028 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52860028 52860028 A C SNP ITIH4 ENST00000266041 human ensembl 70_37 -1 known silent c.633 p.A211 0.998 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 37 29 43.94 86 0 0.00 ITIH5 80760 genome.wustl.edu 37 10 7608295 7608295 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 7608295 7608295 C T SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known missense c.2225 p.R742H 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 18 12 40.00 49 0 0.00 ITIH5 80760 genome.wustl.edu 37 10 7621922 7621922 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 7621922 7621922 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known missense c.1214 p.T405M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 44 9 16.98 47 0 0.00 ITIH5 80760 genome.wustl.edu 37 10 7621936 7621936 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 7621936 7621936 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.1200 p.L400 0.392 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 67 8 10.67 40 0 0.00 ITIH5 80760 genome.wustl.edu 37 10 7679252 7679252 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 7679252 7679252 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.591 p.I197 0.049 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 27 9 25.00 41 0 0.00 ITIH5 80760 genome.wustl.edu 37 10 7679252 7679252 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 7679252 7679252 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.591 p.I197 0.049 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 12 7 36.84 18 0 0.00 ITIH6 347365 genome.wustl.edu 37 X 54784055 54784055 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 54784055 54784055 G A SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.2452 p.P818S 0.016 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 47 23 32.86 61 0 0.00 ITIH6 347365 genome.wustl.edu 37 X 54784259 54784259 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 54784259 54784259 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.2248 p.D750N 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 63 30 32.26 105 0 0.00 ITIH6 347365 genome.wustl.edu 37 X 54784515 54784515 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 54784515 54784515 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known silent c.1992 p.V664 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 79 17 17.71 91 0 0.00 ITIH6 347365 genome.wustl.edu 37 X 54823504 54823504 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 54823504 54823504 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.128 p.R43H 0.000 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 68 15 18.07 60 0 0.00 ITIH6 347365 genome.wustl.edu 37 X 54824609 54824609 + Missense_Mutation SNP A A T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 54824609 54824609 A T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.35 p.F12Y 0.011 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 50 15 23.08 50 0 0.00 ITK 3702 genome.wustl.edu 37 5 156667073 156667073 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 156667073 156667073 G A SNP ITK ENST00000422843 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 36 7 16.28 43 0 0.00 ITM2A 9452 genome.wustl.edu 37 X 78616654 78616654 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 78616654 78616654 C G SNP ITM2A ENST00000373298 human ensembl 70_37 -1 known missense c.724 p.D242H 0.993 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2A HGNC ENSG00000078596 41 6 12.77 114 1 0.87 ITM2A 9452 genome.wustl.edu 37 X 78622732 78622732 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 78622732 78622732 C T SNP ITM2A ENST00000461357 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors ITM2A HGNC ENSG00000078596 30 28 48.28 57 0 0.00 ITM2B 9445 genome.wustl.edu 37 13 48830439 48830439 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 48830439 48830439 G A SNP ITM2B ENST00000378565 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2B HGNC ENSG00000136156 24 7 22.58 12 0 0.00 ITM2C 81618 genome.wustl.edu 37 2 231741620 231741620 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231741620 231741620 G A SNP ITM2C ENST00000326427 human ensembl 70_37 +1 known missense c.499 p.E167K 0.999 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 31 28 47.46 82 0 0.00 ITPA 3704 genome.wustl.edu 37 20 3190194 3190194 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 3190194 3190194 C A SNP ITPA ENST00000460550 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors ITPA HGNC ENSG00000125877 63 16 20.25 76 0 0.00 ITPK1 3705 genome.wustl.edu 37 14 93424612 93424612 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 14 93424612 93424612 C T SNP ITPK1 ENST00000267615 human ensembl 70_37 -1 known missense c.604 p.V202M 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 109 20 15.50 132 0 0.00 ITPK1-AS1 319085 genome.wustl.edu 37 14 93534259 93534259 + RNA SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93534259 93534259 A T SNP ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 14 13 48.15 37 0 0.00 ITPK1-AS1 319085 genome.wustl.edu 37 14 93537475 93537475 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 93537475 93537475 G C SNP ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 10 6 37.50 30 0 0.00 ITPK1-AS1 319085 genome.wustl.edu 37 14 93538192 93538193 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 93538192 93538193 - T INS ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 95 27 22.13 42 0 0.00 ITPKA 3706 genome.wustl.edu 37 15 41786582 41786582 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 41786582 41786582 G T SNP ITPKA ENST00000260386 human ensembl 70_37 +1 known missense c.457 p.V153L 1.000 NULL pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 3 3 50.00 9 0 0.00 ITPKA 3706 genome.wustl.edu 37 15 41795048 41795048 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 41795048 41795048 G A SNP ITPKA ENST00000260386 human ensembl 70_37 +1 known silent c.1173 p.R391 0.912 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 21 14 40.00 41 0 0.00 ITPKB 3707 genome.wustl.edu 37 1 226822561 226822561 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 226822561 226822561 G C SNP ITPKB ENST00000272117 human ensembl 70_37 -1 known missense c.2652 p.I884M 1.000 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 47 9 16.07 54 0 0.00 ITPKB 3707 genome.wustl.edu 37 1 226829634 226829634 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 226829634 226829634 G A SNP ITPKB ENST00000272117 human ensembl 70_37 -1 known silent c.2439 p.I813 0.995 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 39 10 20.41 73 0 0.00 ITPKB 3707 genome.wustl.edu 37 1 226924884 226924885 + In_Frame_Ins INS - - CCA TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 226924884 226924885 - CCA INS ITPKB ENST00000272117 human ensembl 70_37 -1 known in_frame_ins c.276_275 p.93in_frame_insG 0.091:0.097 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 10 6 37.50 10 0 0.00 ITPKB-IT1 100506443 genome.wustl.edu 37 1 226844732 226844732 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 226844732 226844732 C T SNP ITPKB-IT1 ENST00000412918 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ITPKB-IT1 HGNC ENSG00000228382 18 36 66.67 22 0 0.00 ITPKC 80271 genome.wustl.edu 37 19 41223322 41223322 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 41223322 41223322 G C SNP ITPKC ENST00000263370 human ensembl 70_37 +1 known missense c.282 p.Q94H 0.005 NULL pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 19 4 17.39 28 0 0.00 ITPKC 80271 genome.wustl.edu 37 19 41243662 41243662 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 41243662 41243662 C G SNP ITPKC ENST00000263370 human ensembl 70_37 +1 known missense c.1836 p.F612L 1.000 pfam_IPK pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 17 31 64.58 42 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4712441 4712441 + Missense_Mutation SNP G G T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 4712441 4712441 G T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.1990 p.G664C 0.989 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 19 4 17.39 14 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4712601 4712601 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 4712601 4712601 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.2150 p.S717T 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 47 15 24.19 48 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4732969 4732970 + Frame_Shift_Ins INS - - T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 4732969 4732970 - T INS ITPR1 ENST00000302640 human ensembl 70_37 +1 known frame_shift_ins c.3925_3926 p.T1309fs 1.000:1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 5 2 28.57 39 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4747945 4747945 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 4747945 4747945 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.4707 p.M1569I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 21 23 52.27 45 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4753522 4753522 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 4753522 4753522 G T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.5028 p.M1676I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 25 10 28.57 30 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4776957 4776957 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 4776957 4776957 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.5418 p.M1806I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 60 24 28.57 89 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4821245 4821245 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 4821245 4821245 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.6258 p.S2086 0.043 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 23 8 25.81 42 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4836777 4836777 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 4836777 4836777 C T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.6792 p.R2264 0.958 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 38 28 42.42 83 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4847939 4847939 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 4847939 4847939 C T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.7215 p.F2405 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 51 41 44.57 91 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4856756 4856756 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 4856756 4856756 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.7676 p.R2559T 0.997 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 37 30 44.78 110 0 0.00 ITPR1 3708 genome.wustl.edu 37 3 4887837 4887837 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 4887837 4887837 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.8160 p.R2720S 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 31 21 40.38 53 0 0.00 ITPR2 3709 genome.wustl.edu 37 12 26639267 26639267 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 26639267 26639267 C G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.5581 p.E1861Q 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ENSG00000123104 66 10 13.16 45 0 0.00 ITPR2 3709 genome.wustl.edu 37 12 26709260 26709260 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 26709260 26709260 C G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.4870 p.E1624Q 0.997 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ENSG00000123104 46 42 47.73 60 0 0.00 ITPR2 3709 genome.wustl.edu 37 12 26752981 26752981 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 26752981 26752981 C T SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.3740 p.R1247Q 0.791 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ENSG00000123104 7 8 53.33 45 0 0.00 ITPR2 3709 genome.wustl.edu 37 12 26774150 26774150 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 26774150 26774150 A G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.3368 p.V1123A 0.998 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ENSG00000123104 71 20 21.98 122 0 0.00 ITPR2 3709 genome.wustl.edu 37 12 26816701 26816701 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 26816701 26816701 G C SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.1630 p.Q544E 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ENSG00000123104 12 18 60.00 56 0 0.00 ITPR3 3710 genome.wustl.edu 37 6 33632874 33632874 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33632874 33632874 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.1293 p.I431 0.840 pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 26 6 18.75 18 0 0.00 ITPR3 3710 genome.wustl.edu 37 6 33647815 33647815 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33647815 33647815 G A SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known missense c.4129 p.E1377K 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 23 14 37.84 37 0 0.00 ITPR3 3710 genome.wustl.edu 37 6 33655086 33655086 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33655086 33655086 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.6159 p.I2053 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 45 17 27.42 36 0 0.00 ITPR3 3710 genome.wustl.edu 37 6 33655092 33655092 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 33655092 33655092 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.6165 p.I2055 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 46 17 26.98 36 0 0.00 ITPR3 3710 genome.wustl.edu 37 6 33656045 33656045 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 33656045 33656045 G C SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known missense c.6405 p.Q2135H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 34 5 12.82 60 0 0.00 ITPRIP 85450 genome.wustl.edu 37 10 106075739 106075739 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 106075739 106075739 G A SNP ITPRIP ENST00000278071 human ensembl 70_37 -1 known missense c.71 p.P24L 1.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 23 29 55.77 33 0 0.00 ITPRIPL1 150771 genome.wustl.edu 37 2 96992535 96992535 + Nonsense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 2 96992535 96992535 G T SNP ITPRIPL1 ENST00000361124 human ensembl 70_37 +1 known nonsense c.190 p.E64* 0.566 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 36 4 10.00 49 0 0.00 ITSN1 6453 genome.wustl.edu 37 21 35147123 35147123 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 35147123 35147123 G A SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.1396 p.E466K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 72 23 24.21 82 0 0.00 ITSN1 6453 genome.wustl.edu 37 21 35154300 35154300 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 35154300 35154300 G C SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.1687 p.D563H 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 25 20 44.44 53 0 0.00 ITSN1 6453 genome.wustl.edu 37 21 35201969 35201969 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 35201969 35201969 G A SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.3271 p.E1091K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 23 10 30.30 37 0 0.00 ITSN1 6453 genome.wustl.edu 37 21 35257379 35257379 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 35257379 35257379 G A SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.4711 p.E1571K 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 30 19 38.78 43 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24439053 24439053 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 24439053 24439053 C T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known silent c.3855 p.Q1285 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 23 11 32.35 36 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24443894 24443894 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 24443894 24443894 C G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3619 p.E1207Q 1.000 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 62 26 29.55 41 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24469689 24469689 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 24469689 24469689 C G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3362 p.R1121T 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 13 15 53.57 47 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24471720 24471720 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 24471720 24471720 G A SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3152 p.S1051L 0.850 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 154 20 11.49 190 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24498643 24498643 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 24498643 24498643 C T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.2020 p.E674K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 59 13 18.06 114 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24509100 24509100 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 24509100 24509100 G T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.1844 p.S615Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 19 5 20.83 55 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24518561 24518561 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 24518561 24518561 T A SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.1607 p.E536V 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 49 9 15.52 76 0 0.00 ITSN2 50618 genome.wustl.edu 37 2 24521654 24521654 + Silent SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 24521654 24521654 A G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known silent c.1374 p.R458 0.308 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 14 7 33.33 34 0 0.00 IVL 3713 genome.wustl.edu 37 1 152882447 152882447 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152882447 152882447 G T SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.174 p.K58N 0.000 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 15 2 11.76 24 0 0.00 IVL 3713 genome.wustl.edu 37 1 152882943 152882943 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 152882943 152882943 G C SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.670 p.E224Q 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 14 14 50.00 28 0 0.00 IVL 3713 genome.wustl.edu 37 1 152883056 152883056 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 152883056 152883056 A G SNP IVL ENST00000368764 human ensembl 70_37 +1 known silent c.783 p.G261 0.006 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 63 9 12.50 28 0 0.00 IVL 3713 genome.wustl.edu 37 1 152883203 152883203 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 152883203 152883203 G T SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.930 p.M310I 0.047 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 14 3 17.65 20 0 0.00 IVNS1ABP 10625 genome.wustl.edu 37 1 185266928 185266928 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185266928 185266928 T C SNP IVNS1ABP ENST00000459929 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IVNS1ABP HGNC ENSG00000116679 11 9 45.00 15 0 0.00 IWS1 55677 genome.wustl.edu 37 2 128238691 128238691 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 128238691 128238691 C T SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.2389 p.D797N 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 11 6 35.29 17 0 0.00 IWS1 55677 genome.wustl.edu 37 2 128262290 128262290 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 128262290 128262290 G A SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.1189 p.L397F 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 202 33 14.04 237 0 0.00 IWS1 55677 genome.wustl.edu 37 2 128263003 128263003 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 128263003 128263003 G T SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.476 p.S159Y 0.962 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 21 6 21.43 52 0 0.00 IWS1 55677 genome.wustl.edu 37 2 128263232 128263232 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 128263232 128263232 C T SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.247 p.E83K 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 22 10 31.25 37 0 0.00 IYD 389434 genome.wustl.edu 37 6 150690249 150690249 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150690249 150690249 G C SNP IYD ENST00000229447 human ensembl 70_37 +1 known missense c.82 p.E28Q 0.000 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 27 34 55.74 40 0 0.00 IYD 389434 genome.wustl.edu 37 6 150716577 150716577 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 150716577 150716577 G T SNP IYD ENST00000367335 human ensembl 70_37 +1 known silent c.735 p.L245 0.000 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 26 4 13.33 44 0 0.00 IZUMO1 284359 genome.wustl.edu 37 19 49248480 49248480 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 49248480 49248480 C T SNP IZUMO1 ENST00000332955 human ensembl 70_37 -1 known missense c.301 p.D101N 0.026 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 46 35 42.68 87 0 0.00 IZUMO3 100129669 genome.wustl.edu 37 9 24544225 24544225 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 24544225 24544225 C A SNP IZUMO3 ENST00000543880 human ensembl 70_37 -1 known missense c.464 p.R155M 0.000 NULL NULL - no_errors IZUMO3 HGNC ENSG00000205442 46 15 24.59 53 0 0.00 IZUMO4 113177 genome.wustl.edu 37 19 2097444 2097444 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 19 2097444 2097444 G C SNP IZUMO4 ENST00000395307 human ensembl 70_37 +1 known missense c.461 p.R154P 0.739 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 38 7 15.56 38 0 0.00 IZUMO4 113177 genome.wustl.edu 37 19 2097458 2097458 + Nonsense_Mutation SNP G G T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 19 2097458 2097458 G T SNP IZUMO4 ENST00000395307 human ensembl 70_37 +1 known nonsense c.475 p.E159* 1.000 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 36 5 12.20 38 0 0.00 JAG1 182 genome.wustl.edu 37 20 10620521 10620521 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 10620521 10620521 C T SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.3282 p.R1094 0.999 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 24 26 52.00 36 0 0.00 JAG1 182 genome.wustl.edu 37 20 10629352 10629352 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 10629352 10629352 G A SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.1414 p.R472C 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 49 31 38.75 40 0 0.00 JAG1 182 genome.wustl.edu 37 20 10639163 10639163 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 10639163 10639163 C T SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.647 p.G216D 1.000 pfam_DSL,smart_DSL,pfscan_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 15 8 34.78 24 0 0.00 JAG1 182 genome.wustl.edu 37 20 10639291 10639291 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 10639291 10639291 G A SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.519 p.N173 1.000 pfam_DSL,smart_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 87 25 22.12 157 0 0.00 JAG1 182 genome.wustl.edu 37 20 10639327 10639327 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 10639327 10639327 G C SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.483 p.I161M 0.972 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 15 18 54.55 22 0 0.00 JAG1 182 genome.wustl.edu 37 20 10653409 10653409 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10653409 10653409 G C SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.327 p.L109 0.998 pfam_Notch_ligand_N pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 92 22 19.13 157 0 0.00 JAG2 3714 genome.wustl.edu 37 14 105611334 105611334 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 105611334 105611334 C T SNP JAG2 ENST00000331782 human ensembl 70_37 -1 known missense c.3017 p.R1006Q 0.100 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 69 9 11.54 47 0 0.00 JAG2 3714 genome.wustl.edu 37 14 105618303 105618303 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 105618303 105618303 G A SNP JAG2 ENST00000331782 human ensembl 70_37 -1 known silent c.1011 p.D337 0.725 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 73 27 26.73 130 0 0.00 JAK1 3716 genome.wustl.edu 37 1 65305416 65305416 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 65305416 65305416 C T SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known silent c.2712 p.Q904 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 79 23 22.55 118 0 0.00 JAK1 3716 genome.wustl.edu 37 1 65312460 65312460 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 65312460 65312460 C G SNP JAK1 ENST00000471473 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JAK1 HGNC ENSG00000162434 13 6 31.58 12 0 0.00 JAK1 3716 genome.wustl.edu 37 1 65332599 65332599 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 65332599 65332599 C T SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known missense c.940 p.E314K 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 36 13 26.53 35 0 0.00 JAK1 3716 genome.wustl.edu 37 1 65332606 65332606 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 65332606 65332606 G A SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known silent c.933 p.L311 0.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 136 50 26.88 199 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5050791 5050791 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5050791 5050791 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.574 p.E192* 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 14 7 33.33 28 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5055739 5055739 + Nonsense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 5055739 5055739 C G SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.1007 p.S336* 0.983 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 2 85 97.70 31 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5080270 5080270 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 5080270 5080270 G A SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.2173 p.E725K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 89 94 51.09 301 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5089755 5089755 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 5089755 5089755 C A SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.2653 p.Q885K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 117 30 20.41 136 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5090886 5090886 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5090886 5090886 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.3034 p.E1012* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 18 6 25.00 29 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5123014 5123014 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 5123014 5123014 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.3070 p.E1024* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 66 20 23.26 50 0 0.00 JAK2 3717 genome.wustl.edu 37 9 5123048 5123048 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 5123048 5123048 C T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.3104 p.S1035L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 21 31 59.62 34 0 0.00 JAK3 3718 genome.wustl.edu 37 19 17942593 17942593 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 17942593 17942593 G A SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.2695 p.R899W 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 24 11 31.43 34 0 0.00 JAK3 3718 genome.wustl.edu 37 19 17948788 17948788 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17948788 17948788 C G SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.1654 p.E552Q 0.992 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 58 54 48.21 115 0 0.00 JAK3 3718 genome.wustl.edu 37 19 17951037 17951037 + Splice_Site SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 17951037 17951037 A G SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known splice_site c.1254+2 e8+2 0.775 - - - no_errors JAK3 HGNC ENSG00000105639 22 7 24.14 25 0 0.00 JAK3 3718 genome.wustl.edu 37 19 17953301 17953301 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 17953301 17953301 C T SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.685 p.A229T 0.983 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 8 9 52.94 15 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6037659 6037659 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 6037659 6037659 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.2351 p.R784H 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 70 35 33.33 67 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6037785 6037785 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 6037785 6037785 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.2225 p.P742L 0.886 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 26 42 61.76 81 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6042435 6042435 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 6042435 6042435 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.2106 p.F702 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 66 8 10.81 76 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6051584 6051584 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 6051584 6051584 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.1924 p.E642K 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 9 25 73.53 49 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6086678 6086678 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 6086678 6086678 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.849 p.D283 0.786 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 9 3 23.08 13 0 0.00 JAKMIP1 152789 genome.wustl.edu 37 4 6087285 6087285 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6087285 6087285 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.696 p.Q232 0.999 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 22 16 42.11 37 0 0.00 JAKMIP2 9832 genome.wustl.edu 37 5 147015790 147015790 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 147015790 147015790 C G SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known missense c.1672 p.E558Q 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 11 7 38.89 27 0 0.00 JAKMIP2 9832 genome.wustl.edu 37 5 147040796 147040796 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 147040796 147040796 G A SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known silent c.342 p.L114 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 17 13 41.94 26 0 0.00 JAKMIP2 9832 genome.wustl.edu 37 5 147040859 147040859 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 147040859 147040859 G C SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known missense c.279 p.I93M 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 31 10 24.39 49 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133946876 133946876 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 133946876 133946876 C T SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known nonsense c.694 p.Q232* 0.987 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 24 3 11.11 26 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133950592 133950592 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 133950592 133950592 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 32 13 28.26 47 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133955450 133955450 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 133955450 133955450 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known silent c.1500 p.L500 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 48 32 39.51 111 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133961495 133961495 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 133961495 133961495 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.1789 p.E597Q 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 21 13 38.24 68 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133976803 133976803 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 133976803 133976803 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.2305 p.E769Q 0.992 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 55 35 38.89 76 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133976858 133976858 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 133976858 133976858 G A SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.2360 p.R787H 0.999 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 40 35 46.67 71 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133981481 133981481 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 133981481 133981481 C G SNP JAKMIP3 ENST00000477275 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors JAKMIP3 HGNC ENSG00000188385 22 13 37.14 25 0 0.00 JAKMIP3 282973 genome.wustl.edu 37 10 133981523 133981523 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 133981523 133981523 G A SNP JAKMIP3 ENST00000477275 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors JAKMIP3 HGNC ENSG00000188385 26 9 25.71 43 0 0.00 JAM3 83700 genome.wustl.edu 37 11 134014899 134014899 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 134014899 134014899 C G SNP JAM3 ENST00000532165 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors JAM3 HGNC ENSG00000166086 7 29 80.56 56 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15452293 15452293 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 15452293 15452293 C T SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.380 p.T127I 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 24 11 31.43 15 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15468829 15468829 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 15468829 15468829 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 53 10 15.87 69 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15496858 15496858 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 15496858 15496858 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.1402 p.E468K 0.891 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 14 5 26.32 25 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15497208 15497208 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 15497208 15497208 C T SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known silent c.1752 p.F584 0.972 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 58 9 13.43 70 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15501191 15501191 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 15501191 15501191 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.1999 p.G667S 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 25 21 45.65 45 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15507417 15507417 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 15507417 15507417 C G SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.2592 p.H864Q 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 32 29 47.54 41 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15511553 15511553 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 15511553 15511553 A G SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.2873 p.N958S 0.983 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 27 3 10.00 45 0 0.00 JARID2 3720 genome.wustl.edu 37 6 15517424 15517424 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 15517424 15517424 T C SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known silent c.3483 p.C1161 1.000 pfam_Znf_C5HC2 pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 26 16 38.10 68 0 0.00 JAZF1 221895 genome.wustl.edu 37 7 27935034 27935034 + Missense_Mutation SNP A A T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 27935034 27935034 A T SNP JAZF1 ENST00000283928 human ensembl 70_37 -1 known missense c.190 p.F64I 1.000 NULL smart_Znf_C2H2-like - no_errors JAZF1 HGNC ENSG00000153814 12 10 45.45 28 0 0.00 JDP2 122953 genome.wustl.edu 37 14 75935999 75935999 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75935999 75935999 G A SNP JDP2 ENST00000267569 human ensembl 70_37 +1 known missense c.346 p.E116K 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 21 13 38.24 37 0 0.00 JDP2 122953 genome.wustl.edu 37 14 75936102 75936102 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 75936102 75936102 G A SNP JDP2 ENST00000267569 human ensembl 70_37 +1 known missense c.449 p.C150Y 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 33 4 10.81 48 0 0.00 JHDM1D 80853 genome.wustl.edu 37 7 139791674 139791674 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 139791674 139791674 G A SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known silent c.2661 p.F887 0.975 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 49 10 16.95 70 0 0.00 JHDM1D 80853 genome.wustl.edu 37 7 139797431 139797431 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 139797431 139797431 G T SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known missense c.1930 p.R644S 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 19 6 24.00 23 0 0.00 JHDM1D 80853 genome.wustl.edu 37 7 139810954 139810954 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 139810954 139810954 C G SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known missense c.1369 p.D457H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 13 8 38.10 39 0 0.00 JKAMP 51528 genome.wustl.edu 37 14 59951218 59951218 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 59951218 59951218 G A SNP JKAMP ENST00000554754 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors JKAMP HGNC ENSG00000050130 19 12 38.71 32 0 0.00 JKAMP 51528 genome.wustl.edu 37 14 59953442 59953442 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 59953442 59953442 C G SNP JKAMP ENST00000555491 human ensembl 70_37 +1 known missense c.16 p.Q6E 1.000 NULL pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 44 17 27.87 51 0 0.00 JMJD1C 221037 genome.wustl.edu 37 10 64944425 64944425 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 64944425 64944425 G A SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.6904 p.H2302Y 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 109 35 24.31 135 0 0.00 JMJD1C 221037 genome.wustl.edu 37 10 64953104 64953104 + Splice_Site SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 64953104 64953104 C G SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known splice_site c.5862+1 e15+1 1.000 - - - no_errors JMJD1C HGNC ENSG00000171988 39 15 27.78 41 0 0.00 JMJD1C 221037 genome.wustl.edu 37 10 64974005 64974005 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 64974005 64974005 G A SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.1922 p.S641L 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 44 9 16.98 70 0 0.00 JMJD1C 221037 genome.wustl.edu 37 10 64974350 64974350 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 64974350 64974350 G A SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.1577 p.S526L 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 12 3 18.75 19 0 0.00 JMJD1C 221037 genome.wustl.edu 37 10 64975041 64975041 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 64975041 64975041 C T SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.997 p.D333N 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 32 12 27.27 31 0 0.00 JMJD4 65094 genome.wustl.edu 37 1 227920351 227920351 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 227920351 227920351 G C SNP JMJD4 ENST00000366758 human ensembl 70_37 -1 known missense c.1134 p.I378M 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 2 4 66.67 17 0 0.00 JMJD6 23210 genome.wustl.edu 37 17 74719994 74719994 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 74719994 74719994 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.665 p.R222Q 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 47 41 46.59 125 0 0.00 JMJD6 23210 genome.wustl.edu 37 17 74721712 74721712 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74721712 74721712 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 62 44 41.51 105 0 0.00 JMJD6 23210 genome.wustl.edu 37 17 74722527 74722527 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74722527 74722527 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 17 18 51.43 30 0 0.00 JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42127259 42127259 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 42127259 42127259 G T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 70_37 +1 known nonsense c.310 p.E104* 1.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 29 12 29.27 20 0 0.00 JMY 133746 genome.wustl.edu 37 5 78586979 78586979 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 78586979 78586979 C T SNP JMY ENST00000396137 human ensembl 70_37 +1 known nonsense c.1384 p.Q462* 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 23 11 31.43 32 0 0.00 JMY 133746 genome.wustl.edu 37 5 78596013 78596013 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 78596013 78596013 G A SNP JMY ENST00000396137 human ensembl 70_37 +1 known missense c.1565 p.R522Q 0.002 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 14 12 46.15 28 0 0.00 JMY 133746 genome.wustl.edu 37 5 78610183 78610183 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 78610183 78610183 C T SNP JMY ENST00000396137 human ensembl 70_37 +1 known missense c.2168 p.S723F 0.005 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 26 8 23.53 28 0 0.00 JMY 133746 genome.wustl.edu 37 5 78610439 78610439 + Silent SNP T T G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 78610439 78610439 T G SNP JMY ENST00000396137 human ensembl 70_37 +1 known silent c.2424 p.P808 0.178 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 3 9 75.00 15 0 0.00 JOSD1 9929 genome.wustl.edu 37 22 39085337 39085337 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 39085337 39085337 G T SNP JOSD1 ENST00000216039 human ensembl 70_37 -1 known missense c.278 p.T93N 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfscan_Josephin - no_errors JOSD1 HGNC ENSG00000100221 53 25 32.05 84 0 0.00 JPH1 56704 genome.wustl.edu 37 8 75157351 75157351 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 75157351 75157351 C T SNP JPH1 ENST00000342232 human ensembl 70_37 -1 known missense c.1318 p.E440K 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 97 11 10.19 120 0 0.00 JPH1 56704 genome.wustl.edu 37 8 75227566 75227566 + Silent SNP A A T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 75227566 75227566 A T SNP JPH1 ENST00000342232 human ensembl 70_37 -1 known silent c.669 p.L223 0.152 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 9 4 30.77 15 0 0.00 JPH2 57158 genome.wustl.edu 37 20 42815123 42815123 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 42815123 42815123 C G SNP JPH2 ENST00000372980 human ensembl 70_37 -1 known missense c.223 p.E75Q 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 53 21 28.38 59 0 0.00 JPH2 57158 genome.wustl.edu 37 20 42815230 42815230 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 20 42815230 42815230 G A SNP JPH2 ENST00000372980 human ensembl 70_37 -1 known missense c.116 p.S39F 1.000 pfam_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 62 15 19.48 64 0 0.00 JPH3 57338 genome.wustl.edu 37 16 87678345 87678345 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 87678345 87678345 C T SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known silent c.864 p.Y288 1.000 pirsf_Junctophilin,pfam_MORN,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 51 9 15.00 47 0 0.00 JPH3 57338 genome.wustl.edu 37 16 87723265 87723265 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 87723265 87723265 G C SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known missense c.1299 p.Q433H 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 43 22 33.85 75 0 0.00 JPH3 57338 genome.wustl.edu 37 16 87723265 87723265 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 87723265 87723265 G C SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known missense c.1299 p.Q433H 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 43 8 15.69 70 0 0.00 JPH3 57338 genome.wustl.edu 37 16 87724057 87724057 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 87724057 87724057 C T SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known silent c.2091 p.F697 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 58 11 15.94 67 0 0.00 JRK 8629 genome.wustl.edu 37 8 143740180 143740180 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 143740180 143740180 G A SNP JRK ENST00000507178 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JRK HGNC ENSG00000234616 9 14 60.87 18 0 0.00 JRK 8629 genome.wustl.edu 37 8 143746288 143746288 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 143746288 143746288 G C SNP JRK ENST00000422119 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JRK HGNC ENSG00000234616 24 4 14.29 35 0 0.00 JRKL 8690 genome.wustl.edu 37 11 96124324 96124324 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 96124324 96124324 G A SNP JRKL ENST00000332349 human ensembl 70_37 +1 known missense c.511 p.E171K 0.762 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 34 27 44.26 56 0 0.00 JRKL 8690 genome.wustl.edu 37 11 96125364 96125364 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 96125364 96125364 G A SNP JRKL ENST00000332349 human ensembl 70_37 +1 known silent c.1551 p.Q517 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 21 3 12.50 34 0 0.00 JTB 10899 genome.wustl.edu 37 1 153949189 153949189 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 153949189 153949189 G A SNP JTB ENST00000271843 human ensembl 70_37 -1 known missense c.184 p.P62S 0.166 pfam_JTB pfam_JTB - no_errors JTB HGNC ENSG00000143543 22 10 31.25 35 0 0.00 JUN 3725 genome.wustl.edu 37 1 59247748 59247748 + Nonstop_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 59247748 59247748 C G SNP JUN ENST00000371222 human ensembl 70_37 -1 known nonstop c.995 p.*332S 1.000 NULL pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 38 21 35.59 57 0 0.00 JUN 3725 genome.wustl.edu 37 1 59248413 59248413 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 59248413 59248413 G A SNP JUN ENST00000371222 human ensembl 70_37 -1 known silent c.330 p.F110 0.999 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 37 38 50.67 56 0 0.00 JUN 3725 genome.wustl.edu 37 1 59248525 59248525 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 59248525 59248525 G A SNP JUN ENST00000371222 human ensembl 70_37 -1 known missense c.218 p.S73L 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 60 27 31.03 114 0 0.00 JUNB 3726 genome.wustl.edu 37 19 12902990 12902990 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12902990 12902990 C T SNP JUNB ENST00000302754 human ensembl 70_37 +1 known silent c.405 p.F135 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 6 6 50.00 18 0 0.00 JUNB 3726 genome.wustl.edu 37 19 12903464 12903464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12903464 12903464 C G SNP JUNB ENST00000302754 human ensembl 70_37 +1 known missense c.879 p.I293M 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 22 19 46.34 53 0 0.00 JUNB 3726 genome.wustl.edu 37 19 12903536 12903536 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 12903536 12903536 C T SNP JUNB ENST00000302754 human ensembl 70_37 +1 known silent c.951 p.L317 0.986 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 26 4 13.33 19 0 0.00 JUNB 3726 genome.wustl.edu 37 19 12903628 12903628 + Nonstop_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 12903628 12903628 G C SNP JUNB ENST00000302754 human ensembl 70_37 +1 known nonstop c.1043 p.*348S 1.000 NULL pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 102 14 12.07 142 0 0.00 JUND 3727 genome.wustl.edu 37 19 18391439 18391439 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18391439 18391439 G A SNP JUND ENST00000252818 human ensembl 70_37 -1 known missense c.856 p.R286C 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 41 12 22.64 63 0 0.00 JUND 3727 genome.wustl.edu 37 19 18391505 18391505 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 18391505 18391505 C A SNP JUND ENST00000252818 human ensembl 70_37 -1 known missense c.790 p.D264Y 1.000 superfamily_Euk_TF_DNA-bd,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 12 14 53.85 24 0 0.00 JUND 3727 genome.wustl.edu 37 19 18391875 18391875 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 18391875 18391875 G T SNP JUND ENST00000252818 human ensembl 70_37 -1 known missense c.420 p.F140L 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 10 3 23.08 9 0 0.00 JUND 3727 genome.wustl.edu 37 19 18391926 18391926 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 18391926 18391926 G A SNP JUND ENST00000252818 human ensembl 70_37 -1 known silent c.369 p.F123 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 17 7 29.17 19 0 0.00 JUP 3728 genome.wustl.edu 37 17 39777876 39777876 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 39777876 39777876 C T SNP JUP ENST00000540235 human ensembl 70_37 -1 known missense c.1280 p.R427H 0.998 pfam_F,superfamily_Prefoldin pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 128 15 10.34 141 0 0.00 JUP 3728 genome.wustl.edu 37 17 39913930 39913930 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 17 39913930 39913930 G A SNP JUP ENST00000310706 human ensembl 70_37 -1 known missense c.1880 p.S627L 0.995 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 50 9 15.25 45 0 0.00 JUP 3728 genome.wustl.edu 37 17 39913930 39913930 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39913930 39913930 G A SNP JUP ENST00000310706 human ensembl 70_37 -1 known missense c.1880 p.S627L 0.995 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 16 13 44.83 18 0 0.00 JUP 3728 genome.wustl.edu 37 17 39919565 39919565 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 39919565 39919565 C T SNP JUP ENST00000310706 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 31 14 31.11 35 0 0.00 JUP 3728 genome.wustl.edu 37 17 39925391 39925391 + Silent SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 39925391 39925391 C G SNP JUP ENST00000310706 human ensembl 70_37 -1 known silent c.537 p.L179 0.998 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 33 17 34.00 44 0 0.00 KAAG1 353219 genome.wustl.edu 37 6 24358086 24358086 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 24358086 24358086 C T SNP KAAG1 ENST00000274766 human ensembl 70_37 +1 known silent c.219 p.N73 0.000 NULL NULL - no_errors KAAG1 HGNC ENSG00000146049 27 8 22.86 20 0 0.00 KAL1 3730 genome.wustl.edu 37 X 8507779 8507779 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 8507779 8507779 G C SNP KAL1 ENST00000262648 human ensembl 70_37 -1 known missense c.1375 p.H459D 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core - no_errors KAL1 HGNC ENSG00000011201 174 51 22.67 229 0 0.00 KALRN 8997 genome.wustl.edu 37 3 123881188 123881188 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 123881188 123881188 G C SNP KALRN ENST00000477496 human ensembl 70_37 +1 known rna NULL NULL 0.158 - - - no_errors KALRN HGNC ENSG00000160145 49 9 15.52 27 0 0.00 KALRN 8997 genome.wustl.edu 37 3 123987683 123987683 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 123987683 123987683 G C SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 83 10 10.75 29 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124045013 124045013 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 124045013 124045013 G A SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.1273 p.E425K 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 23 5 17.86 24 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124132404 124132404 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 124132404 124132404 C T SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.2428 p.R810W 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 56 19 25.33 45 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124215171 124215171 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 124215171 124215171 G A SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.4840 p.D1614N 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 43 6 12.24 38 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124215190 124215190 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 124215190 124215190 A G SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.4859 p.D1620G 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 47 15 24.19 28 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124215190 124215190 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 124215190 124215190 A G SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.4859 p.D1620G 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 63 15 19.23 94 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124369774 124369774 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 124369774 124369774 G A SNP KALRN ENST00000360013 human ensembl 70_37 +1 known silent c.5781 p.L1927 0.999 superfamily_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 35 8 18.60 26 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124376306 124376306 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 124376306 124376306 G C SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.5871 p.K1957N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 29 14 32.56 51 0 0.00 KALRN 8997 genome.wustl.edu 37 3 124398421 124398421 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 124398421 124398421 C T SNP KALRN ENST00000462213 human ensembl 70_37 +1 putative silent c.285 p.F95 0.172 NULL NULL - no_errors KALRN HGNC ENSG00000160145 67 17 20.24 63 0 0.00 KANK1 23189 genome.wustl.edu 37 9 710904 710904 + Silent SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 710904 710904 C G SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known silent c.138 p.L46 1.000 pfam_KN_motif pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 44 16 26.67 65 0 0.00 KANK1 23189 genome.wustl.edu 37 9 711531 711531 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 711531 711531 G A SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known silent c.765 p.V255 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 58 10 14.71 70 0 0.00 KANK1 23189 genome.wustl.edu 37 9 713097 713097 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 713097 713097 G T SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.2331 p.R777S 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 33 4 10.81 59 0 0.00 KANK1 23189 genome.wustl.edu 37 9 731209 731209 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 731209 731209 G A SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.2948 p.G983D 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 36 16 30.77 41 0 0.00 KANK1 23189 genome.wustl.edu 37 9 731209 731209 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 731209 731209 G A SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.2948 p.G983D 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 37 20 35.09 48 0 0.00 KANK1 23189 genome.wustl.edu 37 9 731244 731244 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 731244 731244 C T SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known nonsense c.2983 p.Q995* 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 28 5 15.15 30 0 0.00 KANK1 23189 genome.wustl.edu 37 9 734665 734666 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 734665 734666 - A INS KANK1 ENST00000489369 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors KANK1 HGNC ENSG00000107104 27 4 12.90 29 0 0.00 KANK1 23189 genome.wustl.edu 37 9 745203 745203 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 745203 745203 C G SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.4027 p.P1343A 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 88 24 21.24 71 0 0.00 KANK1 23189 genome.wustl.edu 37 9 745829 745829 + RNA SNP T T G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 745829 745829 T G SNP KANK1 ENST00000489369 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KANK1 HGNC ENSG00000107104 37 7 15.91 85 0 0.00 KANK2 25959 genome.wustl.edu 37 19 11303634 11303634 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303634 11303634 C G SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known missense c.1122 p.E374D 0.837 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 24 27 52.94 45 0 0.00 KANK2 25959 genome.wustl.edu 37 19 11303837 11303837 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303837 11303837 G A SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known nonsense c.919 p.Q307* 0.996 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 13 5 27.78 17 0 0.00 KANK2 25959 genome.wustl.edu 37 19 11303838 11303838 + Silent SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303838 11303838 A G SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known silent c.918 p.A306 0.976 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 12 5 29.41 18 0 0.00 KANK2 25959 genome.wustl.edu 37 19 11304469 11304469 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11304469 11304469 C T SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known missense c.287 p.R96H 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 38 10 20.83 40 0 0.00 KANK3 256949 genome.wustl.edu 37 19 8397920 8397920 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 8397920 8397920 G A SNP KANK3 ENST00000593649 human ensembl 70_37 -1 known silent c.1914 p.I638 0.956 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 19 11 36.67 34 0 0.00 KANK3 256949 genome.wustl.edu 37 19 8399296 8399296 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8399296 8399296 G A SNP KANK3 ENST00000593649 human ensembl 70_37 -1 known silent c.1335 p.L445 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 30 14 31.82 29 0 0.00 KANK4 163782 genome.wustl.edu 37 1 62738964 62738964 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 62738964 62738964 C T SNP KANK4 ENST00000371153 human ensembl 70_37 -1 known silent c.1812 p.L604 0.948 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 41 39 48.75 77 0 0.00 KANK4 163782 genome.wustl.edu 37 1 62739081 62739081 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 62739081 62739081 C T SNP KANK4 ENST00000371153 human ensembl 70_37 -1 known silent c.1695 p.K565 0.991 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 31 12 27.91 40 0 0.00 KANSL1 284058 genome.wustl.edu 37 17 44109643 44109643 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 44109643 44109643 G A SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known missense c.2860 p.R954W 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 6 6 50.00 10 0 0.00 KANSL1 284058 genome.wustl.edu 37 17 44115926 44115926 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 44115926 44115926 G T SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known nonsense c.2519 p.S840* 0.989 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 19 10 34.48 31 0 0.00 KANSL1 284058 genome.wustl.edu 37 17 44115926 44115926 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 44115926 44115926 G T SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known nonsense c.2519 p.S840* 0.989 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 28 22 44.00 29 0 0.00 KANSL1 284058 genome.wustl.edu 37 17 44249450 44249450 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 44249450 44249450 G C SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known missense c.60 p.F20L 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 62 28 31.11 75 0 0.00 KANSL1-AS1 644246 genome.wustl.edu 37 17 44271224 44271224 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44271224 44271224 G A SNP KANSL1-AS1 ENST00000572973 human ensembl 70_37 +1 known rna NULL NULL 0.978 - - - no_errors KANSL1-AS1 HGNC ENSG00000214401 52 42 44.68 75 0 0.00 KANSL1L 151050 genome.wustl.edu 37 2 210968836 210968836 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 210968836 210968836 C T SNP KANSL1L ENST00000281772 human ensembl 70_37 -1 known missense c.1420 p.E474K 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 35 18 33.96 44 0 0.00 KANSL2 54934 genome.wustl.edu 37 12 49047778 49047778 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49047778 49047778 G A SNP KANSL2 ENST00000548701 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors KANSL2 HGNC ENSG00000139620 62 29 31.87 59 0 0.00 KANSL2 54934 genome.wustl.edu 37 12 49072853 49072853 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 49072853 49072853 C T SNP KANSL2 ENST00000420613 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 61 36 37.11 94 0 0.00 KANSL2 54934 genome.wustl.edu 37 12 49075215 49075215 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 49075215 49075215 C A SNP KANSL2 ENST00000420613 human ensembl 70_37 -1 known missense c.201 p.K67N 1.000 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 22 10 31.25 58 0 0.00 KAT2A 2648 genome.wustl.edu 37 17 40266039 40266039 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 40266039 40266039 C T SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known missense c.2299 p.E767K 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC ENSG00000108773 76 15 16.48 80 0 0.00 KAT2A 2648 genome.wustl.edu 37 17 40269601 40269601 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40269601 40269601 G A SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known missense c.1442 p.S481L 0.998 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC ENSG00000108773 21 8 27.59 33 0 0.00 KAT2A 2648 genome.wustl.edu 37 17 40271595 40271595 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 40271595 40271595 G A SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known nonsense c.841 p.Q281* 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC ENSG00000108773 33 13 28.26 96 0 0.00 KAT2B 8850 genome.wustl.edu 37 3 20178473 20178473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 20178473 20178473 C G SNP KAT2B ENST00000263754 human ensembl 70_37 +1 known missense c.1789 p.H597D 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 14 10 41.67 23 0 0.00 KAT5 10524 genome.wustl.edu 37 11 65481086 65481086 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 65481086 65481086 C T SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.563 p.S188L 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 28 17 36.96 61 0 0.00 KAT5 10524 genome.wustl.edu 37 11 65481258 65481258 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 65481258 65481258 G A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.629 p.R210H 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 36 7 16.28 54 0 0.00 KAT5 10524 genome.wustl.edu 37 11 65482041 65482041 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65482041 65482041 G A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.766 p.D256N 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 15 16 51.61 24 0 0.00 KAT5 10524 genome.wustl.edu 37 11 65482375 65482375 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65482375 65482375 G C SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.1023 p.K341N 0.981 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 22 5 18.52 25 0 0.00 KAT5 10524 genome.wustl.edu 37 11 65486388 65486388 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65486388 65486388 C A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.1469 p.S490Y 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 72 25 25.77 96 0 0.00 KAT6A 7994 genome.wustl.edu 37 8 41789766 41789766 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 41789766 41789766 C T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.5972 p.G1991D 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 55 19 25.68 70 0 0.00 KAT6A 7994 genome.wustl.edu 37 8 41790749 41790749 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 41790749 41790749 C T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known silent c.4989 p.P1663 0.259 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 15 11 40.74 53 0 0.00 KAT6A 7994 genome.wustl.edu 37 8 41798407 41798407 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 41798407 41798407 G A SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.2992 p.R998W 0.957 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 57 16 21.92 41 0 0.00 KAT6A 7994 genome.wustl.edu 37 8 41798922 41798922 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 8 41798922 41798922 G C SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.2477 p.S826C 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 29 13 30.95 31 0 0.00 KAT6A 7994 genome.wustl.edu 37 8 41906386 41906386 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 41906386 41906386 G T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.110 p.S37Y 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 401 82 16.98 437 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76744974 76744974 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 76744974 76744974 G T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.2510 p.C837F 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 35 4 10.26 48 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76781645 76781645 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 76781645 76781645 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.3028 p.R1010W 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 30 19 38.78 33 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76788623 76788623 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 76788623 76788623 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known silent c.4041 p.L1347 0.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 48 17 26.15 44 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76789044 76789044 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 76789044 76789044 G C SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.4462 p.E1488Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 7 7 50.00 24 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76789437 76789437 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 76789437 76789437 G A SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.4855 p.V1619I 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 42 16 27.59 47 0 0.00 KAT6B 23522 genome.wustl.edu 37 10 76790423 76790423 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 10 76790423 76790423 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known silent c.5841 p.S1947 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 34 4 10.53 47 0 0.00 KAT7 11143 genome.wustl.edu 37 17 47866104 47866104 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 47866104 47866104 G C SNP KAT7 ENST00000509124 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors KAT7 HGNC ENSG00000136504 25 20 44.44 37 0 0.00 KAT7 11143 genome.wustl.edu 37 17 47869285 47869285 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 47869285 47869285 C T SNP KAT7 ENST00000259021 human ensembl 70_37 +1 known missense c.53 p.S18F 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 15 10 40.00 41 0 0.00 KAT8 84148 genome.wustl.edu 37 16 31141434 31141434 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 31141434 31141434 G C SNP KAT8 ENST00000448516 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.999 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 352 64 15.38 475 0 0.00 KATNA1 11104 genome.wustl.edu 37 6 149918311 149918311 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 149918311 149918311 C T SNP KATNA1 ENST00000335647 human ensembl 70_37 -1 known missense c.1165 p.E389K 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 42 18 30.00 45 0 0.00 KATNA1 11104 genome.wustl.edu 37 6 149919411 149919411 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 149919411 149919411 C G SNP KATNA1 ENST00000335647 human ensembl 70_37 -1 known missense c.964 p.E322Q 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 27 21 43.75 57 0 0.00 KATNAL1 84056 genome.wustl.edu 37 13 30805526 30805526 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 30805526 30805526 G A SNP KATNAL1 ENST00000380615 human ensembl 70_37 -1 known silent c.810 p.F270 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 18 9 33.33 32 0 0.00 KATNAL1 84056 genome.wustl.edu 37 13 30829630 30829630 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 30829630 30829630 G C SNP KATNAL1 ENST00000380615 human ensembl 70_37 -1 known missense c.446 p.S149C 0.351 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 55 31 36.05 68 0 0.00 KATNAL2 83473 genome.wustl.edu 37 18 44572878 44572878 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 44572878 44572878 G A SNP KATNAL2 ENST00000356157 human ensembl 70_37 +1 novel silent c.102 p.S34 1.000 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_ATPase_AAA_core,pfam_LisH_dimerisation_subgr,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_LisH_dimerisation,smart_AAA+_ATPase,pfscan_LisH_dimerisation - no_errors KATNAL2 HGNC ENSG00000167216 49 25 33.78 48 0 0.00 KATNB1 10300 genome.wustl.edu 37 16 57778385 57778385 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 57778385 57778385 C T SNP KATNB1 ENST00000379661 human ensembl 70_37 +1 known missense c.251 p.S84L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 100 22 18.03 161 0 0.00 KATNB1 10300 genome.wustl.edu 37 16 57787337 57787337 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 57787337 57787337 C G SNP KATNB1 ENST00000379661 human ensembl 70_37 +1 known silent c.1083 p.P361 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 33 17 34.00 61 0 0.00 KATNBL1 79768 genome.wustl.edu 37 15 34438961 34438961 + Splice_Site SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 34438961 34438961 C A SNP KATNBL1 ENST00000256544 human ensembl 70_37 -1 known splice_site c.788+1 e7+1 1.000 - - - no_errors KATNBL1 HGNC ENSG00000134152 26 13 33.33 36 0 0.00 KAZN 23254 genome.wustl.edu 37 1 14925500 14925500 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 14925500 14925500 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 15 14 48.28 50 0 0.00 KAZN 23254 genome.wustl.edu 37 1 15361347 15361347 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 15361347 15361347 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.521 p.R174Q 0.985 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 17 6 26.09 25 0 0.00 KAZN 23254 genome.wustl.edu 37 1 15386730 15386730 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 15386730 15386730 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.979 p.E327K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 17 12 41.38 24 0 0.00 KAZN 23254 genome.wustl.edu 37 1 15421416 15421416 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 15421416 15421416 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.1534 p.E512K 0.997 superfamily_SAM/pointed pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 17 4 19.05 24 0 0.00 KLHL41 10324 genome.wustl.edu 37 2 170366664 170366664 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 170366664 170366664 C T SNP KBTBD10 ENST00000284669 human ensembl 70_37 +1 known missense c.376 p.L126F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC ENSG00000239474 17 15 46.88 33 0 0.00 KLHL41 10324 genome.wustl.edu 37 2 170371123 170371123 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170371123 170371123 C T SNP KBTBD10 ENST00000284669 human ensembl 70_37 +1 known silent c.1150 p.L384 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC ENSG00000239474 25 24 48.98 35 0 0.00 KBTBD12 166348 genome.wustl.edu 37 3 127642675 127642675 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 127642675 127642675 C T SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known silent c.771 p.I257 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 142 26 15.48 61 0 0.00 KBTBD12 166348 genome.wustl.edu 37 3 127642964 127642964 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 127642964 127642964 G C SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1060 p.E354Q 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 24 7 22.58 30 0 0.00 KBTBD12 166348 genome.wustl.edu 37 3 127649050 127649050 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 127649050 127649050 G T SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1416 p.W472C 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 20 3 13.04 35 0 0.00 KBTBD12 166348 genome.wustl.edu 37 3 127703061 127703061 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 127703061 127703061 G A SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1812 p.M604I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 25 16 39.02 30 0 0.00 KBTBD12 166348 genome.wustl.edu 37 3 127703143 127703143 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 127703143 127703143 C T SNP KBTBD12 ENST00000476626 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors KBTBD12 HGNC ENSG00000187715 26 13 33.33 23 0 0.00 KBTBD2 25948 genome.wustl.edu 37 7 32909521 32909521 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 32909521 32909521 C T SNP KBTBD2 ENST00000304056 human ensembl 70_37 -1 known silent c.1308 p.L436 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 20 11 35.48 28 0 0.00 KBTBD3 143879 genome.wustl.edu 37 11 105923634 105923634 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 105923634 105923634 G A SNP KBTBD3 ENST00000526793 human ensembl 70_37 -1 known silent c.1782 p.C594 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 62 31 33.33 114 0 0.00 KBTBD4 55709 genome.wustl.edu 37 11 47595183 47595183 + Missense_Mutation SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 47595183 47595183 C G SNP KBTBD4 ENST00000430070 human ensembl 70_37 -1 known missense c.904 p.D302H 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 41 8 16.33 37 0 0.00 KBTBD4 55709 genome.wustl.edu 37 11 47599541 47599541 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 47599541 47599541 G T SNP KBTBD4 ENST00000430070 human ensembl 70_37 -1 known missense c.59 p.P20Q 0.994 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 39 5 11.36 35 0 0.00 KBTBD7 84078 genome.wustl.edu 37 13 41766989 41766989 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 41766989 41766989 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known missense c.1405 p.P469S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 20 12 37.50 22 0 0.00 KBTBD7 84078 genome.wustl.edu 37 13 41768292 41768292 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 41768292 41768292 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known silent c.102 p.F34 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 50 11 18.03 114 1 0.86 KBTBD7 84078 genome.wustl.edu 37 13 41768355 41768355 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 41768355 41768355 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known silent c.39 p.L13 0.856 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 28 21 42.86 48 0 0.00 KBTBD8 84541 genome.wustl.edu 37 3 67048774 67048774 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 67048774 67048774 C G SNP KBTBD8 ENST00000469661 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KBTBD8 HGNC ENSG00000163376 39 24 38.10 50 0 0.00 KBTBD8 84541 genome.wustl.edu 37 3 67058535 67058535 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 67058535 67058535 G T SNP KBTBD8 ENST00000417314 human ensembl 70_37 +1 known missense c.1532 p.R511L 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 21 3 12.50 46 0 0.00 KCNA1 3736 genome.wustl.edu 37 12 5020582 5020582 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 5020582 5020582 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known missense c.38 p.S13L 0.953 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 3 11 78.57 24 0 0.00 KCNA1 3736 genome.wustl.edu 37 12 5020588 5020588 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 5020588 5020588 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known missense c.44 p.A15V 0.627 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 36 14 28.00 57 0 0.00 KCNA1 3736 genome.wustl.edu 37 12 5020634 5020634 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 5020634 5020634 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known silent c.90 p.H30 0.993 prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 33 11 24.44 40 0 0.00 KCNA1 3736 genome.wustl.edu 37 12 5020790 5020790 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 5020790 5020790 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known silent c.246 p.F82 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 72 23 24.21 132 1 0.75 KCNA1 3736 genome.wustl.edu 37 12 5027214 5027214 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 5027214 5027214 G T SNP KCNA1 ENST00000543874 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KCNA1 HGNC ENSG00000111262 25 8 24.24 68 0 0.00 KCNA10 3744 genome.wustl.edu 37 1 111060775 111060775 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 111060775 111060775 G A SNP KCNA10 ENST00000369771 human ensembl 70_37 -1 known missense c.635 p.S212F 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 28 14 33.33 57 0 0.00 KCNA10 3744 genome.wustl.edu 37 1 111060863 111060863 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 111060863 111060863 C T SNP KCNA10 ENST00000369771 human ensembl 70_37 -1 known missense c.547 p.E183K 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 42 30 41.67 59 0 0.00 KCNA2 3737 genome.wustl.edu 37 1 111147002 111147002 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 111147002 111147002 C T SNP KCNA2 ENST00000316361 human ensembl 70_37 -1 known missense c.403 p.E135K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 16 12 42.86 16 0 0.00 KCNA2 3737 genome.wustl.edu 37 1 111147189 111147189 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111147189 111147189 G A SNP KCNA2 ENST00000316361 human ensembl 70_37 -1 known silent c.216 p.L72 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 32 21 39.62 43 0 0.00 KCNA3 3738 genome.wustl.edu 37 1 111217029 111217029 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 111217029 111217029 G A SNP KCNA3 ENST00000369769 human ensembl 70_37 -1 known missense c.403 p.R135W 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 62 43 40.57 76 0 0.00 KCNA3 3738 genome.wustl.edu 37 1 111217341 111217341 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 111217341 111217341 C T SNP KCNA3 ENST00000369769 human ensembl 70_37 -1 known missense c.91 p.G31S 0.948 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 24 12 33.33 16 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30032518 30032518 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 30032518 30032518 C G SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known missense c.1708 p.E570Q 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 18 24 57.14 34 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30032823 30032823 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30032823 30032823 C A SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known missense c.1403 p.G468V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 18 9 33.33 28 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30034018 30034018 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30034018 30034018 C T SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known missense c.208 p.A70T 0.992 pfam_K_chnl_volt-dep_Kv1.4_TID pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 6 5 45.45 24 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30034064 30034064 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 11 30034064 30034064 G A SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known silent c.162 p.S54 0.012 pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4 pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 55 12 17.91 62 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30034510 30034510 + RNA SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 30034510 30034510 A G SNP KCNA4 ENST00000526518 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors KCNA4 HGNC ENSG00000182255 5 12 70.59 25 0 0.00 KCNA4 3739 genome.wustl.edu 37 11 30034993 30034993 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 30034993 30034993 G T SNP KCNA4 ENST00000526518 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KCNA4 HGNC ENSG00000182255 11 4 26.67 16 0 0.00 KCNA5 3741 genome.wustl.edu 37 12 5153773 5153773 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 5153773 5153773 C T SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.460 p.R154C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 33 34 50.75 86 0 0.00 KCNA5 3741 genome.wustl.edu 37 12 5154481 5154481 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 5154481 5154481 G A SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.1168 p.G390R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 23 11 31.43 26 0 0.00 KCNA5 3741 genome.wustl.edu 37 12 5154962 5154962 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 5154962 5154962 G C SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.1649 p.R550T 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 26 6 18.75 26 0 0.00 KCNA5 3741 genome.wustl.edu 37 12 5155077 5155077 + Silent SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 5155077 5155077 C G SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known silent c.1764 p.V588 1.000 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 17 3 15.00 56 0 0.00 KCNA6 3742 genome.wustl.edu 37 12 4919236 4919236 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 4919236 4919236 C T SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.29 p.A10V 1.000 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 10 7 41.18 22 0 0.00 KCNA6 3742 genome.wustl.edu 37 12 4919592 4919592 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 12 4919592 4919592 G A SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.385 p.E129K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 77 24 23.76 103 0 0.00 KCNA6 3742 genome.wustl.edu 37 12 4920131 4920131 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 4920131 4920131 C T SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known silent c.924 p.F308 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 6 15 71.43 43 0 0.00 KCNA6 3742 genome.wustl.edu 37 12 4920615 4920615 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 4920615 4920615 G A SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.1408 p.E470K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 59 35 37.23 71 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 155755532 155755532 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 155755532 155755532 C G SNP KCNAB1 ENST00000477912 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KCNAB1 HGNC ENSG00000169282 33 8 19.51 39 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 155861124 155861124 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 155861124 155861124 G A SNP KCNAB1 ENST00000471742 human ensembl 70_37 +1 known missense c.157 p.E53K 0.585 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 47 10 17.54 16 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 156175293 156175293 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 156175293 156175293 G C SNP KCNAB1 ENST00000490337 human ensembl 70_37 +1 known missense c.409 p.D137H 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 137 33 19.19 74 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 156192551 156192551 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 156192551 156192551 G A SNP KCNAB1 ENST00000490337 human ensembl 70_37 +1 known silent c.600 p.Q200 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 37 7 15.91 147 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 156249272 156249272 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 3 156249272 156249272 C T SNP KCNAB1 ENST00000490337 human ensembl 70_37 +1 known missense c.1156 p.L386F 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 54 92 63.01 151 0 0.00 KCNAB1 7881 genome.wustl.edu 37 3 156254594 156254594 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 156254594 156254594 G A SNP KCNAB1 ENST00000497291 human ensembl 70_37 +1 known rna NULL NULL 0.621 - - - no_errors KCNAB1 HGNC ENSG00000169282 63 16 20.25 87 0 0.00 KCNAB2 8514 genome.wustl.edu 37 1 6101914 6101914 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 6101914 6101914 G C SNP KCNAB2 ENST00000164247 human ensembl 70_37 +1 known missense c.101 p.R34T 1.000 prints_K_chnl_volt-dep_bsu_KCNAB2 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 43 12 21.82 74 0 0.00 KCNAB2 8514 genome.wustl.edu 37 1 6154520 6154520 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6154520 6154520 C T SNP KCNAB2 ENST00000378083 human ensembl 70_37 +1 known missense c.707 p.S236L 0.997 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 40 14 25.93 40 0 0.00 KCNB1 3745 genome.wustl.edu 37 20 47989992 47989992 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 47989992 47989992 G A SNP KCNB1 ENST00000371741 human ensembl 70_37 -1 known missense c.2105 p.A702V 0.910 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 44 12 21.43 66 0 0.00 KCNB2 9312 genome.wustl.edu 37 8 73480146 73480146 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 73480146 73480146 G A SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known silent c.177 p.T59 0.028 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 66 38 36.54 68 0 0.00 KCNB2 9312 genome.wustl.edu 37 8 73480393 73480393 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 73480393 73480393 C T SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.424 p.H142Y 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 89 58 39.19 116 0 0.00 KCNB2 9312 genome.wustl.edu 37 8 73849283 73849283 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 73849283 73849283 G A SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.1693 p.E565K 0.597 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 27 10 27.03 32 0 0.00 KCNB2 9312 genome.wustl.edu 37 8 73849309 73849309 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 73849309 73849309 G C SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.1719 p.E573D 1.000 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 26 8 23.53 47 0 0.00 KCNB2 9312 genome.wustl.edu 37 8 73849925 73849925 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 73849925 73849925 G T SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known nonsense c.2335 p.G779* 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 25 7 21.88 29 0 0.00 KCNC1 3746 genome.wustl.edu 37 11 17758017 17758017 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 17758017 17758017 G A SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.468 p.A156 0.992 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 11 12 52.17 27 0 0.00 KCNC1 3746 genome.wustl.edu 37 11 17793409 17793409 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 17793409 17793409 C T SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.768 p.F256 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 127 44 25.73 208 0 0.00 KCNC1 3746 genome.wustl.edu 37 11 17793718 17793718 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 17793718 17793718 C T SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.1077 p.F359 0.992 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 55 20 26.67 71 0 0.00 KCNC2 3747 genome.wustl.edu 37 12 75601247 75601247 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 75601247 75601247 C T SNP KCNC2 ENST00000549446 human ensembl 70_37 -1 known missense c.517 p.D173N 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 33 21 38.89 84 0 0.00 KCNC3 3748 genome.wustl.edu 37 19 50827007 50827007 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50827007 50827007 G C SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known silent c.1203 p.L401 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 40 16 28.57 37 0 0.00 KCNC3 3748 genome.wustl.edu 37 19 50831754 50831754 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50831754 50831754 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.586 p.E196K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 32 8 20.00 59 0 0.00 KCNC3 3748 genome.wustl.edu 37 19 50831779 50831779 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50831779 50831779 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.561 p.M187I 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 38 13 25.49 58 0 0.00 KCNC3 3748 genome.wustl.edu 37 19 50832047 50832047 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 50832047 50832047 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.293 p.R98H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 5 7 58.33 10 0 0.00 KCNC4 3749 genome.wustl.edu 37 1 110765970 110765970 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 110765970 110765970 C T SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known silent c.1063 p.L355 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 33 13 28.26 51 0 0.00 KCNC4 3749 genome.wustl.edu 37 1 110766382 110766382 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 110766382 110766382 G A SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known missense c.1475 p.R492Q 0.993 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 98 14 12.39 171 1 0.58 KCNC4 3749 genome.wustl.edu 37 1 110774856 110774856 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 110774856 110774856 C T SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known silent c.1833 p.L611 0.001 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 17 9 34.62 31 0 0.00 KCND1 3750 genome.wustl.edu 37 X 48826642 48826642 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48826642 48826642 G A SNP KCND1 ENST00000218176 human ensembl 70_37 -1 known missense c.37 p.R13W 0.072 pfam_Shal-type pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 13 4 23.53 27 0 0.00 KCND2 3751 genome.wustl.edu 37 7 119914774 119914774 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 119914774 119914774 C T SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.88 p.P30S 0.999 pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 197 38 16.17 271 0 0.00 KCND2 3751 genome.wustl.edu 37 7 119915228 119915228 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 119915228 119915228 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.542 p.S181N 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 23 10 30.30 46 0 0.00 KCND2 3751 genome.wustl.edu 37 7 120373014 120373014 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 120373014 120373014 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known silent c.1173 p.S391 0.003 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 95 16 14.41 116 0 0.00 KCND2 3751 genome.wustl.edu 37 7 120373062 120373062 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 120373062 120373062 C A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known silent c.1221 p.S407 0.992 pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 45 45 50.00 68 0 0.00 KCND2 3751 genome.wustl.edu 37 7 120387853 120387853 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 120387853 120387853 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.1834 p.D612N 0.995 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 15 9 37.50 21 0 0.00 KCND3 3752 genome.wustl.edu 37 1 112329586 112329586 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 112329586 112329586 C G SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known missense c.1249 p.D417H 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 65 8 10.96 77 0 0.00 KCND3 3752 genome.wustl.edu 37 1 112525016 112525016 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 112525016 112525016 G A SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known silent c.333 p.I111 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 29 21 42.00 36 0 0.00 KCND3 3752 genome.wustl.edu 37 1 112525177 112525177 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 112525177 112525177 G A SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known silent c.172 p.L58 0.994 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 66 41 38.32 104 0 0.00 KCND3 3752 genome.wustl.edu 37 1 112525203 112525203 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 112525203 112525203 C T SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known missense c.146 p.R49Q 0.986 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 46 12 20.69 76 0 0.00 KCNE1L 23630 genome.wustl.edu 37 X 108867844 108867844 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 108867844 108867844 C T SNP KCNE1L ENST00000372101 human ensembl 70_37 -1 known missense c.406 p.A136T 0.000 NULL NULL - no_errors KCNE1L HGNC ENSG00000176076 10 4 28.57 13 0 0.00 KCNE2 9992 genome.wustl.edu 37 21 35742901 35742901 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 35742901 35742901 G C SNP KCNE2 ENST00000290310 human ensembl 70_37 +1 known missense c.124 p.D42H 0.019 prints_K_chnl_volt-dep_bsu_KCNE2 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE2 - no_errors KCNE2 HGNC ENSG00000159197 67 41 37.96 70 0 0.00 KCNE3 10008 genome.wustl.edu 37 11 74168589 74168589 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 74168589 74168589 G A SNP KCNE3 ENST00000310128 human ensembl 70_37 -1 known missense c.20 p.T7M 0.814 prints_K_chnl_volt-dep_bsu_KCNE3 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE3 HGNC ENSG00000175538 112 26 18.84 119 0 0.00 KCNF1 3754 genome.wustl.edu 37 2 11053024 11053024 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 11053024 11053024 G A SNP KCNF1 ENST00000295082 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 37 7 15.91 53 0 0.00 KCNG1 3755 genome.wustl.edu 37 20 49620923 49620923 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49620923 49620923 C T SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 22 11 33.33 45 0 0.00 KCNG1 3755 genome.wustl.edu 37 20 49621098 49621098 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 49621098 49621098 C T SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known silent c.1020 p.L340 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 8 5 38.46 8 0 0.00 KCNG1 3755 genome.wustl.edu 37 20 49626346 49626346 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 49626346 49626346 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.530 p.A177V 0.997 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 42 33 43.42 57 0 0.00 KCNG1 3755 genome.wustl.edu 37 20 49626346 49626346 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 49626346 49626346 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.530 p.A177V 0.997 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 44 39 46.99 24 0 0.00 KCNG1 3755 genome.wustl.edu 37 20 49626582 49626582 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 49626582 49626582 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known silent c.294 p.F98 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 127 46 26.59 86 0 0.00 KCNG2 26251 genome.wustl.edu 37 18 77659102 77659102 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77659102 77659102 C T SNP KCNG2 ENST00000316249 human ensembl 70_37 +1 known silent c.687 p.F229 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 20 8 28.57 33 0 0.00 KCNG2 26251 genome.wustl.edu 37 18 77659699 77659699 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 77659699 77659699 C T SNP KCNG2 ENST00000316249 human ensembl 70_37 +1 known silent c.1284 p.A428 0.429 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 17 11 39.29 19 0 0.00 KCNG3 170850 genome.wustl.edu 37 2 42720542 42720542 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 42720542 42720542 G A SNP KCNG3 ENST00000306078 human ensembl 70_37 -1 known missense c.100 p.R34C 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 27 24 47.06 52 0 0.00 KCNH1 3756 genome.wustl.edu 37 1 210856728 210856728 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 210856728 210856728 G A SNP KCNH1 ENST00000271751 human ensembl 70_37 -1 known silent c.2865 p.L955 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 36 26 41.94 49 0 0.00 KCNH2 3757 genome.wustl.edu 37 7 150647061 150647061 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150647061 150647061 C T SNP KCNH2 ENST00000430723 human ensembl 70_37 -1 known missense c.2593 p.E865K 0.001 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 29 22 43.14 48 0 0.00 KCNH2 3757 genome.wustl.edu 37 7 150648870 150648870 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150648870 150648870 C G SNP KCNH2 ENST00000262186 human ensembl 70_37 -1 known silent c.1611 p.R537 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 35 27 43.55 45 0 0.00 KCNH2 3757 genome.wustl.edu 37 7 150648917 150648917 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 150648917 150648917 C T SNP KCNH2 ENST00000262186 human ensembl 70_37 -1 known missense c.1564 p.G522R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 19 9 32.14 20 0 0.00 KCNH3 23416 genome.wustl.edu 37 12 49934758 49934758 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 12 49934758 49934758 C T SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known silent c.153 p.D51 1.000 pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 20 7 25.93 28 0 0.00 KCNH3 23416 genome.wustl.edu 37 12 49948277 49948277 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49948277 49948277 C T SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known silent c.2076 p.F692 0.991 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 53 21 28.38 88 0 0.00 KCNH3 23416 genome.wustl.edu 37 12 49951381 49951381 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 49951381 49951381 C T SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known missense c.2897 p.P966L 0.948 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 42 25 36.76 65 0 0.00 KCNH3 23416 genome.wustl.edu 37 12 49951641 49951641 + Silent SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 49951641 49951641 T C SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known silent c.3157 p.L1053 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 32 6 15.79 98 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40312447 40312447 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 40312447 40312447 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.2665 p.R889C 0.945 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 37 21 36.21 49 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40316184 40316184 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 40316184 40316184 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known silent c.2088 p.G696 0.998 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 7 20 74.07 32 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40317508 40317508 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 40317508 40317508 G C SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.2044 p.R682G 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 20 30 58.82 54 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40328267 40328267 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 40328267 40328267 C T SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.634 p.V212M 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 31 7 18.42 45 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40330366 40330366 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 40330366 40330366 C T SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.440 p.R147H 0.029 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 16 5 23.81 31 0 0.00 KCNH4 23415 genome.wustl.edu 37 17 40330492 40330492 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 40330492 40330492 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.314 p.S105L 0.846 pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,smart_PAC,prints_K_chnl_volt-dep_ELK,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 30 4 11.76 49 0 0.00 KCNH5 27133 genome.wustl.edu 37 14 63175099 63175099 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 63175099 63175099 G T SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known silent c.2094 p.L698 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 63 21 25.00 84 0 0.00 KCNH5 27133 genome.wustl.edu 37 14 63246573 63246573 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 14 63246573 63246573 C T SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known missense c.1892 p.R631Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 20 3 13.04 15 0 0.00 KCNH5 27133 genome.wustl.edu 37 14 63246617 63246617 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 63246617 63246617 G A SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known silent c.1848 p.I616 0.997 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 13 11 45.83 35 0 0.00 KCNH5 27133 genome.wustl.edu 37 14 63473102 63473102 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 14 63473102 63473102 G A SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known missense c.286 p.L96F 1.000 pfam_PAS_fold,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 64 15 18.99 73 0 0.00 KCNH6 81033 genome.wustl.edu 37 17 61611355 61611355 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 61611355 61611355 C T SNP KCNH6 ENST00000583023 human ensembl 70_37 +1 known missense c.784 p.L262F 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 70 40 36.36 134 0 0.00 KCNH6 81033 genome.wustl.edu 37 17 61611639 61611639 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 61611639 61611639 C T SNP KCNH6 ENST00000583023 human ensembl 70_37 +1 known silent c.1068 p.F356 0.502 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 22 10 31.25 30 0 0.00 KCNH7 90134 genome.wustl.edu 37 2 163393474 163393474 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 2 163393474 163393474 C T SNP KCNH7 ENST00000332142 human ensembl 70_37 -1 known missense c.424 p.E142K 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 80 55 40.44 137 0 0.00 KCNH7 90134 genome.wustl.edu 37 2 163693182 163693182 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 163693182 163693182 C G SNP KCNH7 ENST00000332142 human ensembl 70_37 -1 known missense c.172 p.D58H 1.000 pfam_PAS_fold_3,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 28 18 39.13 39 0 0.00 KCNH7 90134 genome.wustl.edu 37 2 163694971 163694971 + Silent SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 163694971 163694971 G T SNP KCNH7 ENST00000332142 human ensembl 70_37 -1 known silent c.58 p.R20 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 39 5 11.36 69 0 0.00 KCNH8 131096 genome.wustl.edu 37 3 19190254 19190254 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 19190254 19190254 C T SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known silent c.43 p.L15 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 30 23 43.40 95 0 0.00 KCNH8 131096 genome.wustl.edu 37 3 19295170 19295170 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 19295170 19295170 C T SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.101 p.A34V 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 23 15 38.46 27 0 0.00 KCNH8 131096 genome.wustl.edu 37 3 19479678 19479678 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 19479678 19479678 G C SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.1200 p.K400N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 77 21 21.43 67 0 0.00 KCNH8 131096 genome.wustl.edu 37 3 19554568 19554568 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 19554568 19554568 C A SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.2186 p.P729H 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 25 4 13.79 55 0 0.00 KCNIP1 30820 genome.wustl.edu 37 5 169780916 169780916 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 169780916 169780916 C G SNP KCNIP1 ENST00000377360 human ensembl 70_37 +1 known missense c.36 p.F12L 0.824 NULL pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 27 15 35.71 53 0 0.00 KCNIP1 30820 genome.wustl.edu 37 5 170148834 170148834 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 5 170148834 170148834 T C SNP KCNIP1 ENST00000434108 human ensembl 70_37 +1 novel missense c.329 p.V110A 0.993 NULL pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 109 30 21.58 188 0 0.00 KCNIP2 30819 genome.wustl.edu 37 10 103586855 103586855 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 103586855 103586855 C G SNP KCNIP2 ENST00000355657 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNIP2 HGNC ENSG00000120049 13 4 23.53 33 0 0.00 KCNIP2 30819 genome.wustl.edu 37 10 103587399 103587399 + Nonstop_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 103587399 103587399 C G SNP KCNIP2 ENST00000239117 human ensembl 70_37 -1 known nonstop c.554 p.*185S 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 26 12 31.58 41 0 0.00 KCNIP3 30818 genome.wustl.edu 37 2 96048139 96048139 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 96048139 96048139 C G SNP KCNIP3 ENST00000295225 human ensembl 70_37 +1 known missense c.570 p.I190M 1.000 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 22 6 21.43 26 0 0.00 KCNIP4 80333 genome.wustl.edu 37 4 21731537 21731537 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 21731537 21731537 G A SNP KCNIP4 ENST00000512102 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 26 7 21.21 34 0 0.00 KCNJ1 3758 genome.wustl.edu 37 11 128709383 128709383 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 128709383 128709383 G A SNP KCNJ1 ENST00000392664 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 30 12 28.57 75 0 0.00 KCNJ1 3758 genome.wustl.edu 37 11 128709914 128709914 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 128709914 128709914 G C SNP KCNJ1 ENST00000392664 human ensembl 70_37 -1 known missense c.282 p.F94L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 13 14 51.85 29 0 0.00 KCNJ10 3766 genome.wustl.edu 37 1 160012204 160012204 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 160012204 160012204 C T SNP KCNJ10 ENST00000368089 human ensembl 70_37 -1 known missense c.119 p.R40K 0.980 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 40 7 14.58 35 0 0.00 KCNJ11 3767 genome.wustl.edu 37 11 17408655 17408655 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 17408655 17408655 C T SNP KCNJ11 ENST00000339994 human ensembl 70_37 -1 known silent c.984 p.V328 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 102 98 48.76 122 0 0.00 KCNJ11 3767 genome.wustl.edu 37 11 17409138 17409138 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 17409138 17409138 G C SNP KCNJ11 ENST00000339994 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 12 11 47.83 27 0 0.00 KCNJ12 3768 genome.wustl.edu 37 17 21318909 21318909 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 21318909 21318909 C G SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known silent c.255 p.L85 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 152 17 10.06 190 0 0.00 KCNJ12 3768 genome.wustl.edu 37 17 21319343 21319343 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 17 21319343 21319343 C T SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.689 p.A230V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 68 9 11.69 119 0 0.00 KCNJ12 3768 genome.wustl.edu 37 17 21319444 21319444 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 21319444 21319444 C G SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.790 p.L264V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 50 12 19.35 121 1 0.82 KCNJ12 3768 genome.wustl.edu 37 17 21319480 21319480 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 21319480 21319480 G A SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.826 p.E276K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 96 13 11.93 138 0 0.00 KCNJ13 3769 genome.wustl.edu 37 2 233633435 233633435 + Silent SNP G G T TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 2 233633435 233633435 G T SNP KCNJ13 ENST00000233826 human ensembl 70_37 -1 known silent c.549 p.G183 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7,prints_K_chnl_inward-rec_Kir - no_errors KCNJ13 HGNC ENSG00000115474 22 3 12.00 29 0 0.00 KCNJ14 3770 genome.wustl.edu 37 19 48965011 48965011 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 48965011 48965011 C T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known silent c.30 p.L10 0.029 NULL pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 33 20 37.74 32 0 0.00 KCNJ14 3770 genome.wustl.edu 37 19 48965260 48965260 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48965260 48965260 C G SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.279 p.F93L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 19 13 40.62 28 0 0.00 KCNJ14 3770 genome.wustl.edu 37 19 48965272 48965272 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 48965272 48965272 C T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known silent c.291 p.F97 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 21 8 27.59 22 0 0.00 KCNJ14 3770 genome.wustl.edu 37 19 48965361 48965361 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 48965361 48965361 G T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.380 p.C127F 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 10 3 23.08 33 0 0.00 KCNJ14 3770 genome.wustl.edu 37 19 48967909 48967909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 48967909 48967909 C G SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.1186 p.L396V 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 108 32 22.86 165 0 0.00 KCNJ16 3773 genome.wustl.edu 37 17 68128231 68128231 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 68128231 68128231 G A SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known missense c.3 p.M1I 0.981 prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 28 10 26.32 20 0 0.00 KCNJ16 3773 genome.wustl.edu 37 17 68128346 68128346 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 68128346 68128346 G T SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known missense c.118 p.D40Y 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 39 15 27.78 82 0 0.00 KCNJ16 3773 genome.wustl.edu 37 17 68128780 68128780 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 68128780 68128780 C T SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known silent c.552 p.F184 0.986 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 37 6 13.95 33 0 0.00 KCNJ2 3759 genome.wustl.edu 37 17 68172058 68172058 + Frame_Shift_Del DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 68172058 68172058 A - DEL KCNJ2 ENST00000243457 human ensembl 70_37 +1 known frame_shift_del c.878 p.I294fs 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 10 2 16.67 35 0 0.00 KCNJ2 3759 genome.wustl.edu 37 17 68172113 68172113 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 68172113 68172113 C T SNP KCNJ2 ENST00000243457 human ensembl 70_37 +1 known silent c.933 p.C311 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 11 6 35.29 18 0 0.00 KCNJ4 3761 genome.wustl.edu 37 22 38822988 38822988 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 38822988 38822988 C T SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known missense c.1150 p.E384K 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 20 14 41.18 40 0 0.00 KCNJ4 3761 genome.wustl.edu 37 22 38823295 38823295 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 38823295 38823295 C T SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known silent c.843 p.S281 0.312 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 42 27 39.13 45 0 0.00 KCNJ4 3761 genome.wustl.edu 37 22 38824095 38824095 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 22 38824095 38824095 G A SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known missense c.43 p.R15W 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 25 16 39.02 42 0 0.00 KCNJ5 3762 genome.wustl.edu 37 11 128781607 128781607 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 128781607 128781607 G A SNP KCNJ5 ENST00000529694 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 118 38 24.36 141 1 0.70 KCNJ6 3763 genome.wustl.edu 37 21 39086687 39086687 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 21 39086687 39086687 G T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.773 p.T258K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 13 29 69.05 73 0 0.00 KCNJ6 3763 genome.wustl.edu 37 21 39086695 39086695 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 39086695 39086695 C A SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.765 p.L255F 0.998 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 33 16 32.65 53 0 0.00 KCNJ6 3763 genome.wustl.edu 37 21 39086715 39086715 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 39086715 39086715 C T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.745 p.E249K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 43 8 15.69 68 0 0.00 KCNJ6 3763 genome.wustl.edu 37 21 39086857 39086857 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 39086857 39086857 C T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known silent c.603 p.E201 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 66 12 15.38 59 0 0.00 KCNJ6 3763 genome.wustl.edu 37 21 39087250 39087250 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 39087250 39087250 C G SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known silent c.210 p.V70 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 20 10 33.33 34 0 0.00 KCNJ8 3764 genome.wustl.edu 37 12 21919090 21919090 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 21919090 21919090 G A SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.842 p.S281L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 58 27 31.76 45 0 0.00 KCNJ8 3764 genome.wustl.edu 37 12 21919223 21919223 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 21919223 21919223 C G SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.709 p.E237Q 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 61 47 43.52 105 0 0.00 KCNJ8 3764 genome.wustl.edu 37 12 21919523 21919523 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 21919523 21919523 C A SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.409 p.V137F 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 53 19 26.39 30 0 0.00 KCNJ9 3765 genome.wustl.edu 37 1 160053898 160053898 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 160053898 160053898 G A SNP KCNJ9 ENST00000368088 human ensembl 70_37 +1 known silent c.78 p.E26 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 14 4 22.22 24 0 0.00 KCNJ9 3765 genome.wustl.edu 37 1 160054516 160054516 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160054516 160054516 C G SNP KCNJ9 ENST00000368088 human ensembl 70_37 +1 known missense c.696 p.F232L 0.997 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 45 18 28.57 39 0 0.00 KCNK1 3775 genome.wustl.edu 37 1 233750203 233750203 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 233750203 233750203 G A SNP KCNK1 ENST00000366621 human ensembl 70_37 +1 known missense c.286 p.A96T 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 35 16 30.77 69 0 0.00 KCNK10 54207 genome.wustl.edu 37 14 88652178 88652178 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 14 88652178 88652178 C T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known missense c.1333 p.E445K 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 61 29 32.22 65 0 0.00 KCNK10 54207 genome.wustl.edu 37 14 88652276 88652276 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 88652276 88652276 C T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known missense c.1235 p.R412H 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 42 11 20.75 81 0 0.00 KCNK10 54207 genome.wustl.edu 37 14 88729708 88729708 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 88729708 88729708 G T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known silent c.240 p.I80 1.000 prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 30 21 41.18 68 0 0.00 KCNK13 56659 genome.wustl.edu 37 14 90650517 90650517 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 90650517 90650517 G C SNP KCNK13 ENST00000282146 human ensembl 70_37 +1 known missense c.397 p.V133L 0.411 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 16 10 38.46 34 0 0.00 KCNK15 60598 genome.wustl.edu 37 20 43378816 43378816 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43378816 43378816 C T SNP KCNK15 ENST00000372861 human ensembl 70_37 +1 known silent c.330 p.C110 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 55 9 14.06 75 0 0.00 KCNK16 83795 genome.wustl.edu 37 6 39282796 39282796 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 39282796 39282796 C T SNP KCNK16 ENST00000373229 human ensembl 70_37 -1 known silent c.912 p.K304 0.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK16 HGNC ENSG00000095981 57 33 36.67 90 0 0.00 KCNK16 83795 genome.wustl.edu 37 6 39282978 39282978 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 39282978 39282978 C G SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.891 p.W297C 0.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 73 25 25.51 78 0 0.00 KCNK16 83795 genome.wustl.edu 37 6 39286797 39286797 + Missense_Mutation SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 39286797 39286797 A G SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.326 p.I109T 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 39 14 26.42 55 0 0.00 KCNK16 83795 genome.wustl.edu 37 6 39290160 39290160 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39290160 39290160 G A SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.157 p.R53C 0.999 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 22 10 31.25 52 0 0.00 KCNK2 3776 genome.wustl.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 215256745 215256745 C T SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.17 p.S6L 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 11 5 31.25 29 0 0.00 KCNK2 3776 genome.wustl.edu 37 1 215259781 215259781 + Silent SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 215259781 215259781 G A SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known silent c.117 p.T39 0.984 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 43 5 10.42 72 0 0.00 KCNK2 3776 genome.wustl.edu 37 1 215259917 215259917 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 215259917 215259917 C G SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.253 p.Q85E 1.000 prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 46 39 45.88 73 0 0.00 KCNK2 3776 genome.wustl.edu 37 1 215342651 215342651 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 215342651 215342651 G T SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.585 p.Q195H 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 10 4 28.57 69 0 0.00 KCNK4 50801 genome.wustl.edu 37 11 64064417 64064417 + Nonsense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 64064417 64064417 C T SNP KCNK4 ENST00000538767 human ensembl 70_37 +1 putative nonsense c.58 p.Q20* 1.000 NULL NULL - no_errors KCNK4 HGNC ENSG00000182450 31 10 24.39 25 0 0.00 KCNK5 8645 genome.wustl.edu 37 6 39158729 39158729 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39158729 39158729 G T SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1437 p.L479 0.825 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 24 11 31.43 48 0 0.00 KCNK5 8645 genome.wustl.edu 37 6 39158873 39158873 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 39158873 39158873 G A SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1293 p.D431 0.044 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 27 17 38.64 57 0 0.00 KCNK5 8645 genome.wustl.edu 37 6 39158927 39158927 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39158927 39158927 G A SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1239 p.L413 0.993 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 28 32 53.33 94 0 0.00 KCNK5 8645 genome.wustl.edu 37 6 39159517 39159517 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 39159517 39159517 C T SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known missense c.649 p.A217T 0.986 pfam_Ion_trans_2 pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 17 13 43.33 44 0 0.00 KCNK6 9424 genome.wustl.edu 37 19 38818030 38818030 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 38818030 38818030 C T SNP KCNK6 ENST00000263372 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 38 11 22.45 49 0 0.00 KCNK9 51305 genome.wustl.edu 37 8 140630753 140630753 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 140630753 140630753 C T SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known silent c.873 p.P291 0.066 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 7 16 69.57 36 0 0.00 KCNK9 51305 genome.wustl.edu 37 8 140630966 140630966 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 140630966 140630966 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known silent c.660 p.Y220 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 30 22 42.31 35 0 0.00 KCNK9 51305 genome.wustl.edu 37 8 140631202 140631202 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 140631202 140631202 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known missense c.424 p.R142C 1.000 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 41 13 24.07 58 0 0.00 KCNK9 51305 genome.wustl.edu 37 8 140631235 140631235 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 140631235 140631235 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 19 21 52.50 28 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 78651444 78651444 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 78651444 78651444 G A SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.3193 p.R1065W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 34 4 10.53 30 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 78709021 78709021 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 78709021 78709021 G A SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.2600 p.P867L 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 90 18 16.67 118 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 78850175 78850175 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 78850175 78850175 C G SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.1317 p.E439D 1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 35 4 10.26 42 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 79396114 79396114 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 10 79396114 79396114 C T SNP KCNMA1 ENST00000480683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNMA1 HGNC ENSG00000156113 33 5 13.16 44 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 79396286 79396286 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 79396286 79396286 G A SNP KCNMA1 ENST00000481070 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNMA1 HGNC ENSG00000156113 15 5 25.00 20 0 0.00 KCNMA1 3778 genome.wustl.edu 37 10 79397289 79397289 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 79397289 79397289 C T SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.112 p.A38T 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 14 5 26.32 25 0 0.00 KCNMB3 27094 genome.wustl.edu 37 3 178957772 178957772 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 178957772 178957772 C T SNP KCNMB3 ENST00000486944 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KCNMB3 HGNC ENSG00000171121 17 3 15.00 82 0 0.00 KCNMB4 27345 genome.wustl.edu 37 12 70760704 70760704 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 70760704 70760704 G A SNP KCNMB4 ENST00000258111 human ensembl 70_37 +1 known missense c.190 p.E64K 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB4 HGNC ENSG00000135643 26 16 38.10 52 0 0.00 KCNN2 3781 genome.wustl.edu 37 5 113698719 113698719 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 113698719 113698719 G A SNP KCNN2 ENST00000264773 human ensembl 70_37 +1 known missense c.247 p.G83R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 39 25 39.06 66 0 0.00 KCNN2 3781 genome.wustl.edu 37 5 113740463 113740463 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 113740463 113740463 C A SNP KCNN2 ENST00000264773 human ensembl 70_37 +1 known missense c.911 p.T304N 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 21 11 34.38 57 0 0.00 KCNN3 3782 genome.wustl.edu 37 1 154687435 154687435 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154687435 154687435 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1746 p.I582 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 55 16 22.54 69 0 0.00 KCNN3 3782 genome.wustl.edu 37 1 154687452 154687452 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 154687452 154687452 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known missense c.1729 p.R577W 0.994 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 97 20 17.09 94 0 0.00 KCNN3 3782 genome.wustl.edu 37 1 154744507 154744507 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154744507 154744507 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1392 p.L464 0.065 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 180 41 18.55 145 0 0.00 KCNN3 3782 genome.wustl.edu 37 1 154744744 154744744 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154744744 154744744 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1155 p.F385 1.000 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 16 15 48.39 18 0 0.00 KCNN4 3783 genome.wustl.edu 37 19 44278346 44278346 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 44278346 44278346 C T SNP KCNN4 ENST00000262888 human ensembl 70_37 -1 known silent c.681 p.E227 1.000 pfam_Ion_trans_2 pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 47 14 22.95 43 0 0.00 KCNQ1 3784 genome.wustl.edu 37 11 2609969 2609969 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 2609969 2609969 C G SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known missense c.1278 p.D426E 0.982 prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 50 13 20.63 83 0 0.00 KCNQ1 3784 genome.wustl.edu 37 11 2797249 2797249 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 2797249 2797249 C T SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 40 18 31.03 55 0 0.00 KCNQ1 3784 genome.wustl.edu 37 11 2869097 2869097 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 2869097 2869097 G A SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known missense c.1895 p.R632K 0.001 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 17 5 22.73 8 0 0.00 KCNQ1OT1 10984 genome.wustl.edu 37 11 2657771 2657771 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 2657771 2657771 G C SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.063 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 35 13 27.08 33 0 0.00 KCNQ1OT1 10984 genome.wustl.edu 37 11 2694379 2694379 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 2694379 2694379 G C SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 36 16 30.77 23 0 0.00 KCNQ1OT1 10984 genome.wustl.edu 37 11 2696602 2696602 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 2696602 2696602 G C SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 36 30 45.45 54 0 0.00 KCNQ1OT1 10984 genome.wustl.edu 37 11 2714025 2714025 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 2714025 2714025 G T SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 36 4 10.00 30 0 0.00 KCNQ1OT1 10984 genome.wustl.edu 37 11 2714892 2714892 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 2714892 2714892 C T SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 2 21 91.30 23 0 0.00 KCNQ2 3785 genome.wustl.edu 37 20 62045509 62045509 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 62045509 62045509 C G SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.1479 p.K493N 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 66 8 10.81 76 0 0.00 KCNQ2 3785 genome.wustl.edu 37 20 62045529 62045529 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 62045529 62045529 C G SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.1459 p.E487Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 58 7 10.77 69 0 0.00 KCNQ2 3785 genome.wustl.edu 37 20 62071029 62071029 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62071029 62071029 C A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.849 p.K283N 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 53 17 24.29 84 0 0.00 KCNQ2 3785 genome.wustl.edu 37 20 62071057 62071057 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 62071057 62071057 G A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.821 p.T274M 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 77 23 23.00 118 1 0.84 KCNQ2 3785 genome.wustl.edu 37 20 62076670 62076670 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 62076670 62076670 G A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known silent c.435 p.I145 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 40 9 18.37 54 0 0.00 KCNQ3 3786 genome.wustl.edu 37 8 133141782 133141782 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 133141782 133141782 G A SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known silent c.2346 p.I782 0.998 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 25 13 34.21 35 0 0.00 KCNQ3 3786 genome.wustl.edu 37 8 133142219 133142219 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 133142219 133142219 C T SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known missense c.1909 p.D637N 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 61 13 17.57 34 0 0.00 KCNQ3 3786 genome.wustl.edu 37 8 133492601 133492601 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133492601 133492601 C G SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known missense c.179 p.G60A 0.990 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 38 16 29.63 31 0 0.00 KCNQ3 3786 genome.wustl.edu 37 8 133492621 133492621 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 133492621 133492621 G A SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known silent c.159 p.V53 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 13 4 23.53 11 0 0.00 KCNQ5 56479 genome.wustl.edu 37 6 73751728 73751728 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 73751728 73751728 C T SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known nonsense c.559 p.R187* 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 39 28 41.79 84 0 0.00 KCNQ5 56479 genome.wustl.edu 37 6 73787562 73787562 + Silent SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 73787562 73787562 T C SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known silent c.870 p.D290 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 26 8 23.53 75 0 0.00 KCNQ5 56479 genome.wustl.edu 37 6 73879568 73879568 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 73879568 73879568 G A SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known missense c.1598 p.R533Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 52 35 39.77 71 0 0.00 KCNQ5 56479 genome.wustl.edu 37 6 73904187 73904187 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 73904187 73904187 G A SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known missense c.1879 p.E627K 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 65 17 20.73 81 0 0.00 KCNRG 283518 genome.wustl.edu 37 13 50594391 50594391 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 50594391 50594391 G A SNP KCNRG ENST00000312942 human ensembl 70_37 +1 known missense c.620 p.G207E 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 11 30 73.17 45 0 0.00 KCNS1 3787 genome.wustl.edu 37 20 43726320 43726320 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 43726320 43726320 G A SNP KCNS1 ENST00000306117 human ensembl 70_37 -1 known silent c.1093 p.L365 0.999 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 124 68 35.42 57 0 0.00 KCNS1 3787 genome.wustl.edu 37 20 43726587 43726587 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 43726587 43726587 C T SNP KCNS1 ENST00000306117 human ensembl 70_37 -1 known missense c.826 p.E276K 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 3 6 66.67 15 0 0.00 KCNS3 3790 genome.wustl.edu 37 2 18112978 18112978 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 18112978 18112978 G A SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known missense c.703 p.G235R 0.043 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 8 3 27.27 14 0 0.00 KCNS3 3790 genome.wustl.edu 37 2 18113402 18113402 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 18113402 18113402 C A SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known missense c.1127 p.T376N 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 47 19 28.79 60 0 0.00 KCNS3 3790 genome.wustl.edu 37 2 18113430 18113430 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 18113430 18113430 C T SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known silent c.1155 p.L385 0.166 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 31 35 53.03 57 0 0.00 KCNT1 57582 genome.wustl.edu 37 9 138657024 138657024 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 9 138657024 138657024 G A SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known missense c.1183 p.A395T 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 26 3 10.34 52 0 0.00 KCNT1 57582 genome.wustl.edu 37 9 138657518 138657518 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 138657518 138657518 C T SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known missense c.1249 p.R417C 0.998 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 46 12 20.69 71 0 0.00 KCNT1 57582 genome.wustl.edu 37 9 138660689 138660689 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 138660689 138660689 C T SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known silent c.1416 p.I472 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 32 25 43.10 52 0 0.00 KCNT1 57582 genome.wustl.edu 37 9 138662821 138662821 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 138662821 138662821 G A SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known missense c.1888 p.E630K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 40 18 31.03 71 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196195007 196195007 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 196195007 196195007 G T SNP KCNT2 ENST00000498426 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNT2 HGNC ENSG00000162687 67 28 29.47 37 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196196859 196196859 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 196196859 196196859 C T SNP KCNT2 ENST00000498426 human ensembl 70_37 -1 known rna NULL NULL 0.214 - - - no_errors KCNT2 HGNC ENSG00000162687 29 11 27.50 37 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196295846 196295846 + Splice_Site SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 196295846 196295846 C T SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known splice_site c.2276+1 e19+1 1.000 - - - no_errors KCNT2 HGNC ENSG00000162687 58 17 22.67 43 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196309500 196309500 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 196309500 196309500 A C SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known nonsense c.1754 p.L585* 0.998 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 32 13 28.89 70 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196309572 196309572 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 196309572 196309572 G A SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known missense c.1682 p.S561L 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 46 14 23.33 73 0 0.00 KCNT2 343450 genome.wustl.edu 37 1 196342292 196342292 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 196342292 196342292 G T SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known missense c.1381 p.L461M 0.999 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 27 4 12.90 23 0 0.00 KCNU1 157855 genome.wustl.edu 37 8 36675259 36675259 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 36675259 36675259 G C SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known missense c.1087 p.E363Q 0.988 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 10 25 71.43 72 0 0.00 KCNU1 157855 genome.wustl.edu 37 8 36766906 36766906 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 36766906 36766906 G C SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known silent c.2184 p.P728 0.987 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 332 107 24.32 531 0 0.00 KCNU1 157855 genome.wustl.edu 37 8 36780037 36780037 + Nonsense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 8 36780037 36780037 C T SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known nonsense c.2626 p.Q876* 0.761 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 62 34 35.42 87 0 0.00 KCNU1 157855 genome.wustl.edu 37 8 36793338 36793338 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 36793338 36793338 C T SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known missense c.3350 p.S1117L 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 26 6 18.18 28 0 0.00 KCNV1 27012 genome.wustl.edu 37 8 110980666 110980666 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 110980666 110980666 C T SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known nonsense c.1154 p.W385* 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 44 13 22.81 57 0 0.00 KCNV1 27012 genome.wustl.edu 37 8 110980754 110980754 + Nonsense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 110980754 110980754 C A SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known nonsense c.1066 p.G356* 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 14 9 39.13 41 0 0.00 KCNV1 27012 genome.wustl.edu 37 8 110980823 110980823 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 110980823 110980823 G A SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known missense c.997 p.R333C 0.997 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 20 10 33.33 28 0 0.00 KCNV1 27012 genome.wustl.edu 37 8 110986320 110986320 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 110986320 110986320 C T SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known missense c.298 p.E100K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 36 67 65.05 94 0 0.00 KCNV2 169522 genome.wustl.edu 37 9 2718192 2718192 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 2718192 2718192 C T SNP KCNV2 ENST00000382082 human ensembl 70_37 +1 known silent c.453 p.F151 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 26 6 18.75 62 0 0.00 KCP 375616 genome.wustl.edu 37 7 128524104 128524105 + RNA INS - - G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 128524104 128524105 - G INS KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 0.790:0.082 - - - no_errors KCP HGNC ENSG00000135253 37 8 17.78 58 0 0.00 KCP 375616 genome.wustl.edu 37 7 128526780 128526780 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 128526780 128526780 G C SNP KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors KCP HGNC ENSG00000135253 38 7 15.56 36 0 0.00 KCP 375616 genome.wustl.edu 37 7 128526788 128526788 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128526788 128526788 C G SNP KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KCP HGNC ENSG00000135253 37 5 11.90 38 0 0.00 KCP 375616 genome.wustl.edu 37 7 128531841 128531841 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 128531841 128531841 C T SNP KCP ENST00000257704 human ensembl 70_37 -1 known rna NULL NULL 0.945 - - - no_errors KCP HGNC ENSG00000135253 21 8 27.59 29 0 0.00 KCTD1 284252 genome.wustl.edu 37 18 24081043 24081043 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 24081043 24081043 C T SNP KCTD1 ENST00000417602 human ensembl 70_37 -1 known missense c.1981 p.E661K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 52 28 35.00 77 0 0.00 KCTD1 284252 genome.wustl.edu 37 18 24127690 24127690 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 24127690 24127690 C G SNP KCTD1 ENST00000417602 human ensembl 70_37 -1 known missense c.811 p.E271Q 1.000 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 4 13 72.22 48 0 0.00 KCTD10 83892 genome.wustl.edu 37 12 109893940 109893940 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 109893940 109893940 C T SNP KCTD10 ENST00000228495 human ensembl 70_37 -1 known missense c.706 p.E236K 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 34 12 26.09 41 0 0.00 KCTD10 83892 genome.wustl.edu 37 12 109898564 109898564 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109898564 109898564 G A SNP KCTD10 ENST00000228495 human ensembl 70_37 -1 known silent c.264 p.L88 0.998 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 54 28 34.15 59 0 0.00 KCTD12 115207 genome.wustl.edu 37 13 77459648 77459648 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77459648 77459648 G A SNP KCTD12 ENST00000317765 human ensembl 70_37 -1 known silent c.636 p.I212 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC ENSG00000178695 10 5 33.33 27 0 0.00 KCTD12 115207 genome.wustl.edu 37 13 77460014 77460014 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 13 77460014 77460014 G A SNP KCTD12 ENST00000317765 human ensembl 70_37 -1 known silent c.270 p.R90 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC ENSG00000178695 16 6 27.27 33 0 0.00 KCTD13 253980 genome.wustl.edu 37 16 29922489 29922489 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 29922489 29922489 G A SNP KCTD13 ENST00000308768 human ensembl 70_37 -1 known missense c.563 p.S188L 0.999 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 44 13 22.81 68 0 0.00 KCTD14 65987 genome.wustl.edu 37 11 77728119 77728119 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 77728119 77728119 C T SNP KCTD14 ENST00000353172 human ensembl 70_37 -1 known silent c.288 p.G96 0.968 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 24 21 46.67 38 0 0.00 KCTD15 79047 genome.wustl.edu 37 19 34302236 34302236 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 34302236 34302236 G A SNP KCTD15 ENST00000430256 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 33 5 13.16 21 0 0.00 KCTD15 79047 genome.wustl.edu 37 19 34302352 34302352 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 34302352 34302352 G A SNP KCTD15 ENST00000430256 human ensembl 70_37 +1 known silent c.588 p.E196 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 57 23 28.75 59 0 0.00 KCTD16 57528 genome.wustl.edu 37 5 143586723 143586723 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 143586723 143586723 G T SNP KCTD16 ENST00000507359 human ensembl 70_37 +1 known missense c.446 p.R149I 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 15 11 42.31 36 0 0.00 KCTD18 130535 genome.wustl.edu 37 2 201354957 201354957 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201354957 201354957 G C SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.1147 p.P383A 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 45 21 31.82 45 0 0.00 KCTD18 130535 genome.wustl.edu 37 2 201362513 201362513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201362513 201362513 C A SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.624 p.K208N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 15 7 30.43 46 0 0.00 KCTD18 130535 genome.wustl.edu 37 2 201371660 201371660 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 201371660 201371660 C T SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.80 p.R27Q 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 20 19 48.72 23 0 0.00 KCTD18 130535 genome.wustl.edu 37 2 201371660 201371660 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 201371660 201371660 C T SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.80 p.R27Q 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 37 26 41.27 78 0 0.00 KCTD2 23510 genome.wustl.edu 37 17 73043594 73043594 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 73043594 73043594 C G SNP KCTD2 ENST00000322444 human ensembl 70_37 +1 known missense c.249 p.F83L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 17 4 19.05 23 0 0.00 KCTD2 23510 genome.wustl.edu 37 17 73045417 73045417 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 73045417 73045417 G A SNP KCTD2 ENST00000322444 human ensembl 70_37 +1 known missense c.442 p.E148K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 39 11 22.00 42 0 0.00 KCTD20 222658 genome.wustl.edu 37 6 36452532 36452532 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36452532 36452532 G T SNP KCTD20 ENST00000373731 human ensembl 70_37 +1 known nonsense c.898 p.E300* 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 57 18 24.00 61 0 0.00 KCTD20 222658 genome.wustl.edu 37 6 36452603 36452604 + Splice_Site INS - - A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 36452603 36452604 - A INS KCTD20 ENST00000373731 human ensembl 70_37 +1 known splice_site_ins c.967+2_967+1 e6+2 1.000:0.447 - - - no_errors KCTD20 HGNC ENSG00000112078 22 5 18.52 18 0 0.00 KCTD20 222658 genome.wustl.edu 37 6 36454677 36454677 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 36454677 36454677 G C SNP KCTD20 ENST00000373731 human ensembl 70_37 +1 known missense c.985 p.E329Q 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 43 9 17.31 45 0 0.00 KCTD3 51133 genome.wustl.edu 37 1 215760001 215760001 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 215760001 215760001 C T SNP KCTD3 ENST00000259154 human ensembl 70_37 +1 known nonsense c.790 p.Q264* 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 76 25 24.75 76 0 0.00 KCTD4 386618 genome.wustl.edu 37 13 45768493 45768493 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 13 45768493 45768493 C T SNP KCTD4 ENST00000379108 human ensembl 70_37 -1 known silent c.210 p.P70 0.831 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 53 36 40.45 101 0 0.00 KCTD4 386618 genome.wustl.edu 37 13 45768695 45768695 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 45768695 45768695 C T SNP KCTD4 ENST00000379108 human ensembl 70_37 -1 known missense c.8 p.R3H 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 27 14 34.15 104 0 0.00 KCTD6 200845 genome.wustl.edu 37 3 58484430 58484430 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 58484430 58484430 C G SNP KCTD6 ENST00000479470 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KCTD6 HGNC ENSG00000168301 34 17 33.33 50 0 0.00 KCTD7 154881 genome.wustl.edu 37 7 66098334 66098334 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 66098334 66098334 G A SNP KCTD7 ENST00000275532 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 38 25 39.68 110 0 0.00 KCTD8 386617 genome.wustl.edu 37 4 44450311 44450311 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 44450311 44450311 G A SNP KCTD8 ENST00000360029 human ensembl 70_37 -1 known missense c.230 p.S77F 0.048 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 11 8 42.11 14 0 0.00 KDELR1 10945 genome.wustl.edu 37 19 48887664 48887664 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 48887664 48887664 C T SNP KDELR1 ENST00000330720 human ensembl 70_37 -1 known missense c.427 p.E143K 0.999 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 17 8 32.00 27 0 0.00 KDELR1 10945 genome.wustl.edu 37 19 48894602 48894602 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 48894602 48894602 C T SNP KDELR1 ENST00000330720 human ensembl 70_37 -1 known missense c.14 p.R5Q 1.000 prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 91 44 32.59 120 0 0.00 KDELR3 11015 genome.wustl.edu 37 22 38875607 38875607 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38875607 38875607 C G SNP KDELR3 ENST00000409006 human ensembl 70_37 +1 known missense c.202 p.L68V 1.000 pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 68 15 17.86 53 0 0.00 KDELR3 11015 genome.wustl.edu 37 22 38877382 38877382 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 38877382 38877382 G A SNP KDELR3 ENST00000409006 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 99 35 26.12 103 0 0.00 KDM1A 23028 genome.wustl.edu 37 1 23381588 23381588 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 23381588 23381588 C A SNP KDM1A ENST00000542151 human ensembl 70_37 +1 known missense c.817 p.H273N 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 58 18 23.68 79 0 0.00 KDM1A 23028 genome.wustl.edu 37 1 23399797 23399797 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 23399797 23399797 C T SNP KDM1A ENST00000542151 human ensembl 70_37 +1 known silent c.1635 p.L545 0.988 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 26 6 18.18 22 0 0.00 KDM1B 221656 genome.wustl.edu 37 6 18212785 18212785 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 18212785 18212785 G A SNP KDM1B ENST00000388870 human ensembl 70_37 +1 known missense c.1936 p.E646K 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 28 71 71.72 124 0 0.00 KDM1B 221656 genome.wustl.edu 37 6 18215304 18215304 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 18215304 18215304 G A SNP KDM1B ENST00000388870 human ensembl 70_37 +1 known missense c.2179 p.D727N 0.999 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 22 15 40.54 24 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66975046 66975046 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 66975046 66975046 C T SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known nonsense c.373 p.Q125* 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 44 23 34.33 75 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66975079 66975079 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 66975079 66975079 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 17 9 34.62 37 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66975147 66975147 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 66975147 66975147 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.474 p.Q158 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 53 40 43.01 97 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66985142 66985142 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 66985142 66985142 G C SNP KDM2A ENST00000525379 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors KDM2A HGNC ENSG00000173120 48 13 21.31 58 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66995615 66995615 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 66995615 66995615 G C SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.1065 p.Q355H 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 63 16 20.25 84 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 66999107 66999107 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 66999107 66999107 G C SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.1155 p.L385F 0.999 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 21 13 38.24 34 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 67017739 67017739 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67017739 67017739 C G SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.2238 p.S746R 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 24 9 27.27 26 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 67021785 67021785 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 67021785 67021785 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.3203 p.R1068Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 7 12 63.16 46 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 67021879 67021879 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 67021879 67021879 C A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.3297 p.L1099 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 29 4 12.12 31 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 67022514 67022514 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 67022514 67022514 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.3477 p.Q1159 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 14 13 48.15 25 0 0.00 KDM2A 22992 genome.wustl.edu 37 11 67024771 67024771 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67024771 67024771 G A SNP KDM2A ENST00000524657 human ensembl 70_37 +1 known rna NULL NULL 0.199 - - - no_errors KDM2A HGNC ENSG00000173120 18 4 18.18 13 0 0.00 KDM2B 84678 genome.wustl.edu 37 12 121868153 121868153 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 121868153 121868153 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.3949 p.E1317K 0.993 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 23 24 51.06 36 0 0.00 KDM2B 84678 genome.wustl.edu 37 12 121880220 121880220 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 121880220 121880220 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known silent c.3024 p.L1008 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 8 9 52.94 10 0 0.00 KDM2B 84678 genome.wustl.edu 37 12 121880462 121880462 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 121880462 121880462 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.2782 p.E928K 0.985 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 0 3 100.00 13 0 0.00 KDM2B 84678 genome.wustl.edu 37 12 121947490 121947490 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 121947490 121947490 G C SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known silent c.1527 p.L509 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 37 18 32.73 72 0 0.00 KDM2B 84678 genome.wustl.edu 37 12 121947753 121947753 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 121947753 121947753 C G SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.1264 p.E422Q 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 42 21 33.33 73 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86669240 86669240 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 86669240 86669240 G A SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.70 p.D24N 0.911 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 70 24 25.53 83 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86697389 86697389 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 86697389 86697389 G A SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.1582 p.E528K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 39 28 41.79 47 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86707395 86707395 + Frame_Shift_Del DEL G G - TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 86707395 86707395 G - DEL KDM3A ENST00000312912 human ensembl 70_37 +1 known frame_shift_del c.2422 p.G808fs 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 26 17 39.53 42 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86709185 86709185 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 86709185 86709185 C G SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.2645 p.S882C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 78 20 20.41 71 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86718287 86718287 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 86718287 86718287 C G SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.3774 p.I1258M 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 16 5 23.81 28 0 0.00 KDM3A 55818 genome.wustl.edu 37 2 86718364 86718364 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 86718364 86718364 C T SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.3851 p.S1284L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 16 5 23.81 22 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137727474 137727474 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727474 137727474 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known missense c.2153 p.S718C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 41 24 36.92 33 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137727607 137727607 + Silent SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727607 137727607 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.2286 p.L762 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 54 29 34.94 45 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137727650 137727650 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727650 137727650 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known missense c.2329 p.L777V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 46 25 35.21 48 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137727777 137727777 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727777 137727777 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known nonsense c.2456 p.S819* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 27 18 40.00 23 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137754897 137754897 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 137754897 137754897 C T SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known nonsense c.3691 p.Q1231* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 57 19 25.00 63 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137762663 137762663 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137762663 137762663 G C SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known splice_site c.4412-1 e18-1 1.000 - - - no_errors KDM3B HGNC ENSG00000120733 26 16 38.10 29 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137762890 137762890 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137762890 137762890 G C SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.4515 p.L1505 0.998 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 37 29 43.94 66 0 0.00 KDM3B 51780 genome.wustl.edu 37 5 137763729 137763729 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 137763729 137763729 G A SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.4707 p.V1569 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 122 27 18.12 151 0 0.00 KDM4A 9682 genome.wustl.edu 37 1 44132112 44132112 + RNA SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 44132112 44132112 C G SNP KDM4A ENST00000472265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KDM4A HGNC ENSG00000066135 29 4 12.12 35 0 0.00 KDM4A 9682 genome.wustl.edu 37 1 44163650 44163650 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 44163650 44163650 C A SNP KDM4A ENST00000372396 human ensembl 70_37 +1 known missense c.2807 p.S936Y 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 35 4 10.26 32 0 0.00 KDM4A-AS1 100132774 genome.wustl.edu 37 1 44169066 44169066 + RNA DEL T T - TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44169066 44169066 T - DEL KDM4A-AS1 ENST00000453015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KDM4A-AS1 HGNC ENSG00000236200 27 4 12.90 16 0 0.00 KDM4A-AS1 100132774 genome.wustl.edu 37 1 44169066 44169066 + RNA DEL T T - TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 44169066 44169066 T - DEL KDM4A-AS1 ENST00000453015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KDM4A-AS1 HGNC ENSG00000236200 11 5 31.25 11 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5047638 5047638 + Missense_Mutation SNP T T A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 5047638 5047638 T A SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.584 p.L195Q 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 46 27 36.99 51 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5119803 5119803 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 5119803 5119803 G A SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.1255 p.E419K 0.988 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 3 8 72.73 19 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5134045 5134045 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 5134045 5134045 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2058 p.I686M 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 49 36 42.35 87 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5135504 5135504 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 5135504 5135504 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2240 p.S747C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 29 6 17.14 39 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5135504 5135504 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 5135504 5135504 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2240 p.S747C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 44 12 21.43 39 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5144297 5144297 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5144297 5144297 C T SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known silent c.2775 p.V925 0.996 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 42 25 37.31 66 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5144886 5144886 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5144886 5144886 C T SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known silent c.2994 p.I998 0.971 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 39 41 51.25 65 0 0.00 KDM4B 23030 genome.wustl.edu 37 19 5150378 5150378 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5150378 5150378 G C SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.3031 p.E1011Q 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 62 13 17.33 53 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 6893199 6893199 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 6893199 6893199 C G SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known silent c.888 p.V296 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 27 18 40.00 34 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 6893237 6893237 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 6893237 6893237 G T SNP KDM4C ENST00000476075 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM4C HGNC ENSG00000107077 19 3 13.64 24 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 7011800 7011800 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 7011800 7011800 C T SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known missense c.1889 p.A630V 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 50 14 21.88 31 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 7103735 7103735 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 7103735 7103735 C T SNP KDM4C ENST00000536108 human ensembl 70_37 +1 known missense c.1823 p.S608F 1.000 NULL pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 60 24 28.57 95 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 7174651 7174651 + Silent SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 9 7174651 7174651 G A SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known silent c.3093 p.K1031 1.000 superfamily_Chorismate_mutase_type_II pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 30 6 16.67 33 0 0.00 KDM4C 23081 genome.wustl.edu 37 9 7174698 7174698 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 7174698 7174698 C G SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known missense c.3140 p.S1047C 1.000 superfamily_Chorismate_mutase_type_II pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 7 3 30.00 16 0 0.00 KDM4D 55693 genome.wustl.edu 37 11 94730884 94730884 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94730884 94730884 G C SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known missense c.348 p.Q116H 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 23 23 50.00 24 0 0.00 KDM4D 55693 genome.wustl.edu 37 11 94731208 94731208 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 94731208 94731208 A G SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known silent c.672 p.E224 0.338 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 44 14 24.14 54 0 0.00 KDM4D 55693 genome.wustl.edu 37 11 94731840 94731840 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94731840 94731840 C T SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known missense c.1304 p.S435F 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 13 10 43.48 16 0 0.00 KDM4E 390245 genome.wustl.edu 37 11 94759051 94759051 + Silent SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 94759051 94759051 G T SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known silent c.330 p.P110 0.020 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 21 4 16.00 15 0 0.00 KDM4E 390245 genome.wustl.edu 37 11 94759225 94759225 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 94759225 94759225 C G SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known silent c.504 p.V168 0.823 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 39 21 35.00 72 0 0.00 KDM4E 390245 genome.wustl.edu 37 11 94759882 94759882 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 94759882 94759882 C T SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known silent c.1161 p.S387 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 14 5 26.32 20 0 0.00 KDM4E 390245 genome.wustl.edu 37 11 94760060 94760060 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94760060 94760060 C G SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known missense c.1339 p.Q447E 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 14 9 39.13 25 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 402293 402293 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 402293 402293 C G SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.4498 p.D1500H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 20 28 58.33 26 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 416238 416238 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 416238 416238 G A SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known silent c.3948 p.F1316 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 54 7 11.48 52 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 416705 416705 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 416705 416705 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.3845 p.R1282H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 36 6 14.29 38 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 419064 419064 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 419064 419064 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.3283 p.E1095K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 54 23 29.87 55 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 419125 419125 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 419125 419125 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known silent c.3222 p.L1074 0.682 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 59 24 28.92 61 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 431665 431665 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 431665 431665 G A SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known nonsense c.2344 p.R782* 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 118 14 10.61 124 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 463280 463280 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 463280 463280 G T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.991 p.P331T 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 34 4 10.53 41 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 463316 463316 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 463316 463316 G C SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.955 p.H319D 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 78 15 16.13 107 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 464397 464397 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 464397 464397 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.797 p.R266Q 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 120 24 16.67 144 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 465702 465702 + Nonsense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 465702 465702 G C SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known nonsense c.674 p.S225* 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 16 9 36.00 18 0 0.00 KDM5A 5927 genome.wustl.edu 37 12 475192 475192 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 475192 475192 G C SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.445 p.L149V 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 38 9 19.15 24 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202698923 202698923 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 202698923 202698923 G C SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known nonsense c.4409 p.S1470* 1.000 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 169 37 17.96 92 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202700053 202700053 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 202700053 202700053 C G SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known missense c.4160 p.R1387T 0.003 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 38 11 22.45 58 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202702904 202702904 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 202702904 202702904 G A SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.3534 p.I1178 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 12 4 25.00 35 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202702961 202702961 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 202702961 202702961 G C SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.3477 p.L1159 0.999 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 21 12 36.36 37 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202709925 202709925 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202709925 202709925 C T SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.2961 p.L987 0.318 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 125 38 23.31 140 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202710713 202710713 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202710713 202710713 C T SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.2727 p.E909 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 78 27 25.71 84 0 0.00 KDM5B 10765 genome.wustl.edu 37 1 202743752 202743752 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 202743752 202743752 G A SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known nonsense c.394 p.Q132* 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 40 6 13.04 25 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53222364 53222364 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 53222364 53222364 C T SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known missense c.4468 p.E1490K 0.990 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 105 32 23.36 136 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53223512 53223512 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 53223512 53223512 C T SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known missense c.3847 p.E1283K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 58 23 28.40 74 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53228252 53228252 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 53228252 53228252 G C SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known nonsense c.2150 p.S717* 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 57 19 25.00 54 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53228335 53228335 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 53228335 53228335 G A SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.2067 p.I689 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 87 17 16.35 79 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53253976 53253976 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 53253976 53253976 C G SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.96 p.A32 0.997 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 87 22 20.18 114 0 0.00 KDM5C 8242 genome.wustl.edu 37 X 53253979 53253979 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 53253979 53253979 G A SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.93 p.I31 0.979 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 49 28 36.36 102 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44911048 44911048 + Splice_Site SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 44911048 44911048 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known splice_site c.748+1 e9+1 1.000 - - - no_errors KDM6A HGNC ENSG00000147050 21 23 52.27 72 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44922854 44922854 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 44922854 44922854 T G SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.1736 p.F579C 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 72 29 28.71 107 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44928921 44928921 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44928921 44928921 C A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2042 p.S681Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 18 9 33.33 34 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44928929 44928929 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44928929 44928929 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known nonsense c.2050 p.Q684* 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 18 8 30.77 36 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44929242 44929242 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929242 44929242 C A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2363 p.S788Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 23 6 20.69 63 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44929322 44929322 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929322 44929322 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2443 p.H815Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 37 17 31.48 89 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44929341 44929341 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929341 44929341 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2462 p.S821F 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 39 16 29.09 83 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44929353 44929353 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929353 44929353 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2474 p.S825L 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 37 17 31.48 87 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44929362 44929362 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929362 44929362 C G SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known nonsense c.2483 p.S828* 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 33 18 35.29 86 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44938390 44938390 + Splice_Site SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 44938390 44938390 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known splice_site c.2960-1 e20-1 1.000 - - - no_errors KDM6A HGNC ENSG00000147050 38 13 25.49 91 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44942757 44942757 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 44942757 44942757 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.3358 p.V1120I 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 101 19 15.83 83 0 0.00 KDM6A 7403 genome.wustl.edu 37 X 44949031 44949031 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 44949031 44949031 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.3613 p.E1205K 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 53 20 27.40 69 0 0.00 KDM6B 23135 genome.wustl.edu 37 17 7748248 7748248 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7748248 7748248 G A SNP KDM6B ENST00000571047 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM6B HGNC ENSG00000132510 48 21 30.43 59 0 0.00 KDM6B 23135 genome.wustl.edu 37 17 7750482 7750482 + Frame_Shift_Del DEL C C - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 7750482 7750482 C - DEL KDM6B ENST00000254846 human ensembl 70_37 +1 known frame_shift_del c.969 p.P325fs 0.895 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 17 2 10.53 32 0 0.00 KDM6B 23135 genome.wustl.edu 37 17 7750495 7750495 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7750495 7750495 C T SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known missense c.982 p.R328W 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 15 11 42.31 21 0 0.00 KDM6B 23135 genome.wustl.edu 37 17 7752018 7752018 + Silent SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 7752018 7752018 C G SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known silent c.2412 p.L804 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 82 13 13.68 74 0 0.00 KDM6B 23135 genome.wustl.edu 37 17 7756374 7756374 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 7756374 7756374 G T SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known missense c.4667 p.R1556L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 30 33 52.38 69 0 0.00 KDM8 79831 genome.wustl.edu 37 16 27221434 27221434 + Missense_Mutation SNP G G T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 16 27221434 27221434 G T SNP KDM8 ENST00000441782 human ensembl 70_37 +1 known missense c.104 p.G35V 0.001 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 13 7 35.00 37 0 0.00 KDM8 79831 genome.wustl.edu 37 16 27226287 27226287 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 27226287 27226287 C T SNP KDM8 ENST00000441782 human ensembl 70_37 +1 known silent c.870 p.L290 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 24 20 45.45 58 0 0.00 KDR 3791 genome.wustl.edu 37 4 55946116 55946116 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 55946116 55946116 G C SNP KDR ENST00000263923 human ensembl 70_37 -1 known missense c.4063 p.P1355A 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 43 36 45.57 65 0 0.00 KDR 3791 genome.wustl.edu 37 4 55964327 55964327 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 55964327 55964327 A T SNP KDR ENST00000263923 human ensembl 70_37 -1 known missense c.2486 p.F829Y 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 42 13 23.64 65 0 0.00 KDR 3791 genome.wustl.edu 37 4 55973990 55973990 + Silent SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 55973990 55973990 C T SNP KDR ENST00000263923 human ensembl 70_37 -1 known silent c.1326 p.T442 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 50 15 23.08 60 0 0.00 KDSR 2531 genome.wustl.edu 37 18 61027005 61027005 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 61027005 61027005 C G SNP KDSR ENST00000406396 human ensembl 70_37 -1 known missense c.219 p.K73N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors KDSR HGNC ENSG00000119537 39 15 27.78 46 0 0.00 KEAP1 9817 genome.wustl.edu 37 19 10602878 10602878 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 10602878 10602878 G A SNP KEAP1 ENST00000171111 human ensembl 70_37 -1 known missense c.700 p.R234W 0.994 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 16 26 61.90 23 0 0.00 KERA 11081 genome.wustl.edu 37 12 91449677 91449677 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 91449677 91449677 G T SNP KERA ENST00000266719 human ensembl 70_37 -1 known missense c.382 p.L128M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 35 25 41.67 95 0 0.00 KHDC1 80759 genome.wustl.edu 37 6 73951257 73951257 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 73951257 73951257 G A SNP KHDC1 ENST00000257765 human ensembl 70_37 -1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 38 30 44.12 90 0 0.00 KHDC1 80759 genome.wustl.edu 37 6 74019283 74019283 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74019283 74019283 C A SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative missense c.155 p.R52I 0.007 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 10 4 28.57 19 0 0.00 KHDC1 80759 genome.wustl.edu 37 6 74019363 74019363 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74019363 74019363 G T SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative silent c.75 p.I25 0.000 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 16 7 30.43 41 0 0.00 KHDC1 80759 genome.wustl.edu 37 6 74019411 74019411 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 74019411 74019411 G T SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative missense c.27 p.F9L 0.000 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 20 3 13.04 38 0 0.00 KHDC1L 100129128 genome.wustl.edu 37 6 73933558 73933558 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 73933558 73933558 C T SNP KHDC1L ENST00000370388 human ensembl 70_37 -1 known silent c.300 p.L100 0.000 NULL NULL - no_errors KHDC1L HGNC ENSG00000256980 23 8 25.81 47 0 0.00 KHDC3L 154288 genome.wustl.edu 37 6 74072594 74072594 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 74072594 74072594 G A SNP KHDC3L ENST00000370367 human ensembl 70_37 +1 known missense c.142 p.E48K 0.528 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 39 12 23.53 69 0 0.00 KHDRBS1 10657 genome.wustl.edu 37 1 32508537 32508537 + RNA DEL A A - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 32508537 32508537 A - DEL KHDRBS1 ENST00000307714 human ensembl 70_37 +1 known rna NULL NULL 0.903 - - - no_errors KHDRBS1 HGNC ENSG00000121774 20 3 13.04 20 0 0.00 KHDRBS1 10657 genome.wustl.edu 37 1 32508884 32508884 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 32508884 32508884 A - DEL KHDRBS1 ENST00000307714 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors KHDRBS1 HGNC ENSG00000121774 17 2 10.53 22 0 0.00 KHDRBS3 10656 genome.wustl.edu 37 8 136561003 136561003 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 8 136561003 136561003 G A SNP KHDRBS3 ENST00000355849 human ensembl 70_37 +1 known missense c.331 p.E111K 1.000 smart_KH_dom smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 19 3 13.64 30 0 0.00 KHDRBS3 10656 genome.wustl.edu 37 8 136659337 136659337 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 136659337 136659337 C T SNP KHDRBS3 ENST00000522433 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS3 HGNC ENSG00000131773 19 6 24.00 50 0 0.00 KHDRBS3 10656 genome.wustl.edu 37 8 136659488 136659489 + RNA INS - - AA TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 8 136659488 136659489 - AA INS KHDRBS3 ENST00000518728 human ensembl 70_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors KHDRBS3 HGNC ENSG00000131773 8 4 33.33 12 0 0.00 KHK 3795 genome.wustl.edu 37 2 27317370 27317370 + Missense_Mutation SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 27317370 27317370 T C SNP KHK ENST00000260599 human ensembl 70_37 +1 known missense c.235 p.Y79H 1.000 pfam_PfkB pfam_PfkB - no_errors KHK HGNC ENSG00000138030 23 10 30.30 29 0 0.00 KHK 3795 genome.wustl.edu 37 2 27322557 27322557 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 27322557 27322557 G C SNP KHK ENST00000260598 human ensembl 70_37 +1 known missense c.836 p.R279T 0.931 pfam_PfkB pfam_PfkB - no_errors KHK HGNC ENSG00000138030 36 13 26.53 65 0 0.00 KHSRP 8570 genome.wustl.edu 37 19 6416894 6416894 + Splice_Site SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 6416894 6416894 C G SNP KHSRP ENST00000398148 human ensembl 70_37 -1 known splice_site c.1183-1 e13-1 1.000 - - - no_errors KHSRP HGNC ENSG00000088247 83 16 16.16 67 0 0.00 KHSRP 8570 genome.wustl.edu 37 19 6417784 6417784 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 6417784 6417784 C G SNP KHSRP ENST00000398148 human ensembl 70_37 -1 known missense c.1047 p.Q349H 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 33 18 35.29 71 0 0.00 KIAA0020 9933 genome.wustl.edu 37 9 2804207 2804207 + RNA SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 2804207 2804207 G T SNP KIAA0020 ENST00000382032 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors KIAA0020 HGNC ENSG00000080608 4 23 85.19 19 0 0.00 KIAA0020 9933 genome.wustl.edu 37 9 2823795 2823795 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 2823795 2823795 C G SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.1174 p.E392Q 0.995 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 51 10 16.13 75 0 0.00 KIAA0020 9933 genome.wustl.edu 37 9 2830977 2830977 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 2830977 2830977 T C SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.662 p.K221R 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 17 17 50.00 40 0 0.00 KIAA0020 9933 genome.wustl.edu 37 9 2831026 2831026 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 2831026 2831026 C T SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.613 p.D205N 0.990 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 34 34 50.00 41 0 0.00 KIAA0020 9933 genome.wustl.edu 37 9 2837402 2837402 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 2837402 2837402 C G SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known splice_site c.83-1 e2-1 1.000 - - - no_errors KIAA0020 HGNC ENSG00000080608 73 16 17.98 84 0 0.00 KIAA0040 9674 genome.wustl.edu 37 1 175129897 175129897 + Nonsense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 175129897 175129897 G A SNP KIAA0040 ENST00000423313 human ensembl 70_37 -1 known nonsense c.253 p.Q85* 0.973 NULL NULL - no_errors KIAA0040 HGNC ENSG00000235750 12 6 33.33 21 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26942204 26942204 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 26942204 26942204 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.6586 p.E2196K 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 119 59 33.15 196 1 0.51 KIAA0100 9703 genome.wustl.edu 37 17 26943196 26943196 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 26943196 26943196 T C SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.6308 p.D2103G 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 83 26 23.85 138 1 0.72 KIAA0100 9703 genome.wustl.edu 37 17 26955504 26955504 + Nonsense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 26955504 26955504 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known nonsense c.4373 p.W1458* 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 46 13 22.03 41 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26959124 26959124 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26959124 26959124 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known silent c.3939 p.K1313 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 84 44 34.38 120 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26962131 26962131 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 26962131 26962131 G A SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.2474 p.S825L 0.633 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 26 8 23.53 22 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26962166 26962166 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 26962166 26962166 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known silent c.2439 p.R813 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 30 12 28.57 17 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26969347 26969347 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26969347 26969347 G C SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.522 p.I174M 0.993 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 7 12 63.16 26 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26969920 26969920 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26969920 26969920 C G SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.482 p.R161T 0.995 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 13 5 27.78 37 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26970223 26970223 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26970223 26970223 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.355 p.E119K 0.627 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 15 24 61.54 59 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26970293 26970293 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26970293 26970293 G A SNP KIAA0100 ENST00000583403 human ensembl 70_37 -1 known nonsense c.235 p.Q79* 1.000 NULL NULL - no_errors KIAA0100 HGNC ENSG00000007202 9 18 66.67 33 0 0.00 KIAA0100 9703 genome.wustl.edu 37 17 26970655 26970655 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 26970655 26970655 G A SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.221 p.S74F 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 23 21 47.73 50 0 0.00 KIAA0101 9768 genome.wustl.edu 37 15 64669005 64669005 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 15 64669005 64669005 G C SNP KIAA0101 ENST00000300035 human ensembl 70_37 -1 known missense c.227 p.S76C 0.705 NULL NULL - no_errors KIAA0101 HGNC ENSG00000166803 16 17 51.52 30 0 0.00 KIAA0101 9768 genome.wustl.edu 37 15 64669055 64669055 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 15 64669055 64669055 G T SNP KIAA0101 ENST00000560234 human ensembl 70_37 -1 putative missense c.179 p.P60Q 0.990 NULL NULL - no_errors KIAA0101 HGNC ENSG00000166803 13 3 18.75 26 0 0.00 KIAA0125 9834 genome.wustl.edu 37 14 106391135 106391135 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 106391135 106391135 C G SNP KIAA0125 ENST00000482999 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors KIAA0125 HGNC ENSG00000226777 122 78 39.00 185 0 0.00 KIAA0125 9834 genome.wustl.edu 37 14 106391574 106391574 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 106391574 106391574 C T SNP KIAA0125 ENST00000482999 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors KIAA0125 HGNC ENSG00000226777 26 8 23.53 25 0 0.00 KIAA0141 9812 genome.wustl.edu 37 5 141309764 141309764 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 141309764 141309764 C G SNP KIAA0141 ENST00000194118 human ensembl 70_37 +1 known missense c.679 p.L227V 0.467 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 23 4 14.81 21 0 0.00 SPIDR 23514 genome.wustl.edu 37 8 48309015 48309015 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 48309015 48309015 C G SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known nonsense c.605 p.S202* 0.974 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 107 26 19.55 158 0 0.00 SPIDR 23514 genome.wustl.edu 37 8 48614295 48614295 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48614295 48614295 C G SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known missense c.1786 p.L596V 0.184 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 33 11 25.00 39 0 0.00 SPIDR 23514 genome.wustl.edu 37 8 48614331 48614331 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 48614331 48614331 C T SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known missense c.1822 p.H608Y 0.019 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 156 38 19.59 186 0 0.00 KIAA0195 9772 genome.wustl.edu 37 17 73481598 73481598 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 73481598 73481598 C T SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known silent c.114 p.L38 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 51 9 15.00 69 0 0.00 KIAA0195 9772 genome.wustl.edu 37 17 73482023 73482023 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 73482023 73482023 C T SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known silent c.216 p.L72 0.940 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 55 16 22.54 46 0 0.00 KIAA0195 9772 genome.wustl.edu 37 17 73482471 73482471 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 73482471 73482471 G C SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known missense c.373 p.E125Q 0.993 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 73 31 29.81 69 0 0.00 KIAA0195 9772 genome.wustl.edu 37 17 73491058 73491058 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 73491058 73491058 G A SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known missense c.2671 p.E891K 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 40 7 14.89 33 0 0.00 KIAA0196 9897 genome.wustl.edu 37 8 126051122 126051122 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 126051122 126051122 C G SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known missense c.3034 p.E1012Q 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 211 67 24.10 241 0 0.00 KIAA0196 9897 genome.wustl.edu 37 8 126075818 126075818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 126075818 126075818 C G SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known missense c.1354 p.E452Q 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 55 19 25.68 40 0 0.00 KIAA0196 9897 genome.wustl.edu 37 8 126085488 126085488 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 126085488 126085488 C A SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known nonsense c.1057 p.E353* 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 72 33 31.43 75 0 0.00 KIAA0226 9711 genome.wustl.edu 37 3 197408081 197408081 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197408081 197408081 C G SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.2349 p.K783N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 91 22 19.47 48 0 0.00 KIAA0226 9711 genome.wustl.edu 37 3 197408162 197408162 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197408162 197408162 C G SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.2268 p.M756I 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 62 13 17.33 42 0 0.00 KIAA0226 9711 genome.wustl.edu 37 3 197410221 197410221 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197410221 197410221 G A SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.1937 p.S646L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 33 12 26.67 28 0 0.00 KIAA0226 9711 genome.wustl.edu 37 3 197426070 197426070 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197426070 197426070 C T SNP KIAA0226 ENST00000273582 human ensembl 70_37 -1 putative missense c.1114 p.D372N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 35 4 10.26 27 0 0.00 KIAA0226 9711 genome.wustl.edu 37 3 197427948 197427948 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 197427948 197427948 G A SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.797 p.S266L 0.001 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 47 18 27.69 35 0 0.00 KIAA0226L 80183 genome.wustl.edu 37 13 46923456 46923456 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 46923456 46923456 G C SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known missense c.1596 p.I532M 1.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 11 10 47.62 22 0 0.00 KIAA0226L 80183 genome.wustl.edu 37 13 46935611 46935611 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 46935611 46935611 G A SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known nonsense c.1084 p.Q362* 0.985 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 49 21 30.00 59 0 0.00 KIAA0226L 80183 genome.wustl.edu 37 13 46936679 46936679 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 46936679 46936679 G C SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known missense c.980 p.S327C 0.033 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 11 10 47.62 40 0 0.00 KIAA0226L 80183 genome.wustl.edu 37 13 46942916 46942916 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 46942916 46942916 C G SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known silent c.570 p.S190 0.985 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 33 28 45.90 66 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6858947 6858947 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 6858947 6858947 G C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.426 p.Q142H 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 51 13 20.31 57 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6860223 6860223 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 6860223 6860223 C G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.508 p.Q170E 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 31 29 48.33 40 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6862712 6862712 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 6862712 6862712 T C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known silent c.603 p.C201 0.945 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 24 16 40.00 68 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6862786 6862786 + Missense_Mutation SNP A A G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 6862786 6862786 A G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.677 p.N226S 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 25 18 41.86 54 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6863938 6863938 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 6863938 6863938 C G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.1829 p.S610C 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 21 23 52.27 37 0 0.00 KIAA0232 9778 genome.wustl.edu 37 4 6882621 6882621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 6882621 6882621 G C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.4116 p.E1372D 0.610 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 7 16 69.57 45 0 0.00 GLTSCR1L 23506 genome.wustl.edu 37 6 42790704 42790704 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 42790704 42790704 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.122 p.S41F 1.000 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 58 14 19.44 60 0 0.00 GLTSCR1L 23506 genome.wustl.edu 37 6 42796330 42796330 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 42796330 42796330 G C SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.259 p.D87H 1.000 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 20 16 44.44 34 0 0.00 GLTSCR1L 23506 genome.wustl.edu 37 6 42796705 42796705 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 42796705 42796705 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known nonsense c.634 p.Q212* 1.000 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 28 8 22.22 22 0 0.00 GLTSCR1L 23506 genome.wustl.edu 37 6 42819892 42819892 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 42819892 42819892 G C SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known silent c.1902 p.L634 1.000 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 75 14 15.73 108 0 0.00 GLTSCR1L 23506 genome.wustl.edu 37 6 42823607 42823607 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42823607 42823607 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.2060 p.S687L 0.897 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 15 26 63.41 61 0 0.00 KIAA0247 9766 genome.wustl.edu 37 14 70171394 70171394 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 70171394 70171394 C T SNP KIAA0247 ENST00000342745 human ensembl 70_37 +1 known silent c.393 p.L131 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors KIAA0247 HGNC ENSG00000100647 28 21 42.86 45 0 0.00 CEP170B 283638 genome.wustl.edu 37 14 105350257 105350257 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 105350257 105350257 G A SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.1144 p.G382R 0.862 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC ENSG00000099814 10 7 41.18 30 0 0.00 CEP170B 283638 genome.wustl.edu 37 14 105351721 105351721 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 105351721 105351721 G C SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.1789 p.E597Q 0.975 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC ENSG00000099814 43 15 25.86 57 0 0.00 CEP170B 283638 genome.wustl.edu 37 14 105355912 105355912 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 105355912 105355912 C T SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.3803 p.S1268F 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC ENSG00000099814 56 22 28.21 102 0 0.00 AREL1 9870 genome.wustl.edu 37 14 75134036 75134036 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 75134036 75134036 C T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.2089 p.E697K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 55 9 14.06 35 0 0.00 AREL1 9870 genome.wustl.edu 37 14 75150065 75150065 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 75150065 75150065 C T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.415 p.E139K 0.996 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 26 10 27.78 67 0 0.00 AREL1 9870 genome.wustl.edu 37 14 75151318 75151318 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 75151318 75151318 G T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.82 p.R28S 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 66 18 21.43 42 0 0.00 AREL1 9870 genome.wustl.edu 37 14 75151319 75151319 + Silent SNP T T A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 75151319 75151319 T A SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known silent c.81 p.A27 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 43 34 44.16 55 0 0.00 KIAA0319 9856 genome.wustl.edu 37 6 24559315 24559315 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 24559315 24559315 C T SNP KIAA0319 ENST00000378214 human ensembl 70_37 -1 known missense c.2660 p.R887Q 0.024 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 36 17 32.08 55 0 0.00 KIAA0319 9856 genome.wustl.edu 37 6 24569028 24569028 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 24569028 24569028 G A SNP KIAA0319 ENST00000378214 human ensembl 70_37 -1 known silent c.2121 p.L707 0.821 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 13 34 72.34 53 0 0.00 KIAA0319L 79932 genome.wustl.edu 37 1 35906603 35906603 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 35906603 35906603 G A SNP KIAA0319L ENST00000485551 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0319L HGNC ENSG00000142687 19 11 36.67 23 0 0.00 KIAA0319L 79932 genome.wustl.edu 37 1 35906654 35906654 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 35906654 35906654 G A SNP KIAA0319L ENST00000325722 human ensembl 70_37 -1 known nonsense c.2956 p.R986* 0.422 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 39 6 13.33 58 0 0.00 KIAA0319L 79932 genome.wustl.edu 37 1 35920058 35920058 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 35920058 35920058 G C SNP KIAA0319L ENST00000325722 human ensembl 70_37 -1 known missense c.1685 p.S562C 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 49 13 20.97 47 0 0.00 KIAA0355 9710 genome.wustl.edu 37 19 34791603 34791603 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 34791603 34791603 C T SNP KIAA0355 ENST00000299505 human ensembl 70_37 +1 known silent c.225 p.D75 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 54 11 16.92 72 0 0.00 KIAA0355 9710 genome.wustl.edu 37 19 34832880 34832880 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 34832880 34832880 G C SNP KIAA0355 ENST00000299505 human ensembl 70_37 +1 known missense c.2041 p.E681Q 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 36 17 32.08 25 0 0.00 KIAA0368 23392 genome.wustl.edu 37 9 114135509 114135509 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 114135509 114135509 C T SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known missense c.4811 p.R1604Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 209 30 12.50 267 0 0.00 KIAA0368 23392 genome.wustl.edu 37 9 114140944 114140944 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 114140944 114140944 G C SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known silent c.4404 p.L1468 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 34 12 26.09 67 0 0.00 KIAA0368 23392 genome.wustl.edu 37 9 114172371 114172371 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 114172371 114172371 G A SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known missense c.3034 p.L1012F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 16 5 23.81 27 0 0.00 KIAA0408 9729 genome.wustl.edu 37 6 127767741 127767741 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 127767741 127767741 C T SNP KIAA0408 ENST00000483725 human ensembl 70_37 -1 novel missense c.1723 p.E575K 0.001 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 25 21 45.65 58 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15690681 15690681 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 15690681 15690681 G A SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.5098 p.P1700S 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 20 5 20.00 19 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15696500 15696501 + Frame_Shift_Ins INS - - G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 15696500 15696501 - G INS KIAA0430 ENST00000344181 human ensembl 70_37 -1 known frame_shift_ins c.3319_3318 p.S1106fs 0.000:0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 5 3 37.50 24 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15703466 15703466 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15703466 15703466 G A SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3868 p.H1290Y 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 75 14 15.73 105 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15703574 15703574 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15703574 15703574 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3760 p.Q1254E 0.999 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 62 10 13.89 101 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15704917 15704917 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 15704917 15704917 C G SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3666 p.L1222F 0.995 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 29 7 19.44 56 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15704957 15704957 + Nonsense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704957 15704957 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known nonsense c.3626 p.S1209* 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 33 24 42.11 31 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15704957 15704957 + Nonsense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 15704957 15704957 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known nonsense c.3626 p.S1209* 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 80 40 33.33 112 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15706497 15706497 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15706497 15706497 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3391 p.H1131D 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 63 11 14.86 68 0 0.00 KIAA0430 9665 genome.wustl.edu 37 16 15715763 15715763 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 15715763 15715763 C G SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.2466 p.K822N 0.955 smart_RRM_dom,pfscan_RRM_dom pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 43 31 41.89 79 0 0.00 EFCAB14 9813 genome.wustl.edu 37 1 47144274 47144274 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 47144274 47144274 G A SNP KIAA0494 ENST00000371933 human ensembl 70_37 -1 known silent c.1347 p.D449 0.002 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors KIAA0494 HGNC ENSG00000159658 29 13 30.95 37 0 0.00 KIAA0513 9764 genome.wustl.edu 37 16 85106603 85106603 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 85106603 85106603 G C SNP KIAA0513 ENST00000258180 human ensembl 70_37 +1 known missense c.502 p.E168Q 1.000 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 43 19 30.65 65 0 0.00 KIAA0513 9764 genome.wustl.edu 37 16 85111196 85111196 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 85111196 85111196 G A SNP KIAA0513 ENST00000258180 human ensembl 70_37 +1 known missense c.740 p.G247E 1.000 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 40 8 16.67 50 0 0.00 C2CD5 9847 genome.wustl.edu 37 12 22677465 22677465 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 22677465 22677465 C T SNP KIAA0528 ENST00000333957 human ensembl 70_37 -1 known missense c.542 p.R181Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 31 25 44.64 78 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27642395 27642395 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 27642395 27642395 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.320 p.R107Q 0.298 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 65 19 22.62 36 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27643924 27643924 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 27643924 27643924 G T SNP KIAA0556 ENST00000567894 human ensembl 70_37 +1 known rna NULL NULL 0.148 - - - no_errors KIAA0556 HGNC ENSG00000047578 14 7 33.33 32 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27659991 27659991 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 27659991 27659991 G C SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.475 p.D159H 0.999 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 41 14 25.45 68 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27692767 27692767 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 27692767 27692767 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.856 p.E286K 0.999 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 54 8 12.90 57 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27710918 27710918 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 27710918 27710918 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.1177 p.E393K 0.965 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 8 8 50.00 12 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27751738 27751738 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 27751738 27751738 C G SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.2120 p.S707W 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 5 5 50.00 12 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27751796 27751796 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27751796 27751796 C T SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known silent c.2178 p.V726 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 9 5 35.71 19 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27761023 27761023 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 27761023 27761023 C G SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.2742 p.I914M 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 54 26 32.50 63 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27781196 27781196 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 27781196 27781196 C A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.3990 p.H1330Q 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 41 11 21.15 41 0 0.00 KIAA0556 23247 genome.wustl.edu 37 16 27781220 27781220 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 27781220 27781220 C G SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known silent c.4014 p.V1338 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 19 22 53.66 55 0 0.00 CLUH 23277 genome.wustl.edu 37 17 2596110 2596110 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 2596110 2596110 C G SNP KIAA0664 ENST00000435359 human ensembl 70_37 -1 known silent c.3159 p.V1053 0.999 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 29 20 40.82 53 0 0.00 CLUH 23277 genome.wustl.edu 37 17 2607745 2607745 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 2607745 2607745 C T SNP KIAA0664 ENST00000435359 human ensembl 70_37 -1 known missense c.100 p.E34K 1.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 56 25 30.86 61 0 0.00 CLUHP3 100132341 genome.wustl.edu 37 16 31715702 31715702 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31715702 31715702 G A SNP KIAA0664L3 ENST00000254109 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIAA0664L3 HGNC ENSG00000131797 34 22 39.29 50 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39876478 39876478 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 39876478 39876478 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.133 p.H45Y 0.985 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 10 13 56.52 23 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39876975 39876975 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 39876975 39876975 G T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.630 p.K210N 0.791 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 11 7 38.89 16 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39877313 39877313 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 39877313 39877313 C G SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.968 p.S323C 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 16 14 46.67 27 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39877325 39877325 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 39877325 39877325 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.980 p.S327L 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 19 20 51.28 25 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39877348 39877348 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39877348 39877348 G C SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.1003 p.E335Q 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 31 9 22.50 18 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39877398 39877398 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 39877398 39877398 G T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.1053 p.Q351H 0.151 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 22 14 38.89 31 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39877564 39877564 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 39877564 39877564 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known silent c.1219 p.L407 1.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 23 6 20.69 32 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39878480 39878480 + Missense_Mutation SNP A A T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 39878480 39878480 A T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2135 p.D712V 0.005 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 22 5 18.52 29 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39878795 39878795 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 39878795 39878795 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2450 p.P817L 0.003 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 34 13 27.66 57 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39878915 39878915 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 39878915 39878915 G C SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2570 p.R857T 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 20 17 45.95 35 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39878942 39878942 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 39878942 39878942 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2597 p.S866F 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 24 14 36.84 17 0 0.00 KIAA0754 643314 genome.wustl.edu 37 1 39879469 39879470 + Frame_Shift_Ins INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39879469 39879470 - C INS KIAA0754 ENST00000530275 human ensembl 70_37 +1 known frame_shift_ins c.3124_3125 p.A1044fs 0.000:0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 28 13 31.71 46 0 0.00 KIAA0895 23366 genome.wustl.edu 37 7 36406537 36406537 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 36406537 36406537 T C SNP KIAA0895 ENST00000317020 human ensembl 70_37 -1 known missense c.13 p.I5V 1.000 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 10 5 33.33 13 0 0.00 KIAA0895L 653319 genome.wustl.edu 37 16 67214059 67214059 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 67214059 67214059 C T SNP KIAA0895L ENST00000290881 human ensembl 70_37 -1 known missense c.455 p.R152Q 1.000 NULL pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 71 15 17.44 63 0 0.00 KIAA0895L 653319 genome.wustl.edu 37 16 67214570 67214570 + Splice_Site SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 67214570 67214570 C T SNP KIAA0895L ENST00000290881 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.994 - - - no_errors KIAA0895L HGNC ENSG00000196123 47 20 29.85 54 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155886623 155886623 + RNA SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 155886623 155886623 A C SNP KIAA0907 ENST00000465953 human ensembl 70_37 -1 known rna NULL NULL 0.182 - - - no_errors KIAA0907 HGNC ENSG00000132680 28 19 40.43 35 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155886623 155886623 + RNA SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 155886623 155886623 A C SNP KIAA0907 ENST00000465953 human ensembl 70_37 -1 known rna NULL NULL 0.182 - - - no_errors KIAA0907 HGNC ENSG00000132680 31 41 56.16 28 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155891712 155891712 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 155891712 155891712 G A SNP KIAA0907 ENST00000483237 human ensembl 70_37 -1 known rna NULL NULL 0.078 - - - no_errors KIAA0907 HGNC ENSG00000132680 48 25 34.25 48 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155899505 155899505 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155899505 155899505 C A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known nonsense c.382 p.E128* 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 58 12 17.14 49 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155899522 155899522 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155899522 155899522 C A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known missense c.365 p.R122L 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 70 16 18.60 60 0 0.00 KIAA0907 22889 genome.wustl.edu 37 1 155899543 155899543 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 155899543 155899543 G A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known missense c.344 p.T115I 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 41 8 16.33 44 0 0.00 KIAA0922 23240 genome.wustl.edu 37 4 154513680 154513680 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 154513680 154513680 C G SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known silent c.1866 p.L622 0.978 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 74 11 12.94 55 0 0.00 KIAA0922 23240 genome.wustl.edu 37 4 154523328 154523328 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 154523328 154523328 T G SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known nonsense c.2291 p.L764* 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 14 22 61.11 39 0 0.00 KIAA0922 23240 genome.wustl.edu 37 4 154533509 154533509 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 154533509 154533509 G A SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known missense c.3524 p.R1175K 0.966 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 52 14 21.21 90 0 0.00 KIAA0922 23240 genome.wustl.edu 37 4 154544168 154544168 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 154544168 154544168 G C SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known missense c.3978 p.W1326C 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 22 14 38.89 30 0 0.00 KIAA0930 23313 genome.wustl.edu 37 22 45599773 45599773 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 45599773 45599773 G A SNP KIAA0930 ENST00000251993 human ensembl 70_37 -1 known nonsense c.625 p.Q209* 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 44 21 32.31 62 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5457444 5457444 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 5457444 5457444 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known splice_site c.692-1 e12-1 0.999 - - - no_errors KIAA0947 HGNC ENSG00000164151 30 7 18.92 53 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5457651 5457651 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 5457651 5457651 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.898 p.E300Q 0.067 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 38 25 39.06 43 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5460805 5460805 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 5460805 5460805 C G SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.1358 p.S453C 0.002 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 6 4 40.00 19 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5462697 5462697 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 5462697 5462697 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3250 p.D1084H 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 25 23 47.92 30 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5462874 5462874 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 5462874 5462874 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3427 p.V1143L 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 61 21 25.61 31 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5463228 5463228 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 5463228 5463228 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3781 p.E1261Q 0.003 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 46 8 14.81 27 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5463891 5463891 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 5463891 5463891 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.4444 p.E1482K 0.049 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 22 23 51.11 38 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5464406 5464406 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 5464406 5464406 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known silent c.4959 p.L1653 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 12 11 47.83 31 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5464745 5464745 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 5464745 5464745 C T SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known silent c.5298 p.L1766 0.997 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 58 21 26.58 64 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5465100 5465100 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 5465100 5465100 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.5653 p.E1885K 0.005 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 12 11 47.83 37 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5466580 5466580 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 5466580 5466580 G T SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.6026 p.R2009I 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 42 32 43.24 129 0 0.00 KIAA0947 23379 genome.wustl.edu 37 5 5476114 5476114 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 5476114 5476114 T C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.6442 p.W2148R 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 132 16 10.81 69 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84836151 84836151 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 84836151 84836151 C A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.3951 p.K1317N 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 34 14 29.17 70 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84836213 84836213 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 84836213 84836213 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.3889 p.E1297K 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 31 25 44.64 56 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84871559 84871559 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 84871559 84871559 C G SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.2582 p.R861T 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 38 8 17.39 25 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84884516 84884516 + Missense_Mutation SNP T T A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 84884516 84884516 T A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1955 p.E652V 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 27 10 27.03 43 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84884571 84884571 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 84884571 84884571 C G SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1900 p.E634Q 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 48 36 42.86 60 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84884962 84884962 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 84884962 84884962 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1768 p.E590K 0.138 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 36 16 30.77 39 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84913752 84913752 + Nonsense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 84913752 84913752 C A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known nonsense c.634 p.E212* 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 8 13 61.90 30 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84913788 84913788 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 84913788 84913788 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.598 p.E200K 0.853 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 104 16 13.22 124 0 0.00 KIAA1009 22832 genome.wustl.edu 37 6 84913791 84913791 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 84913791 84913791 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.595 p.D199N 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 13 4 23.53 24 0 0.00 KIAA1024 23251 genome.wustl.edu 37 15 79748540 79748540 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 79748540 79748540 A C SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.51 p.E17D 0.173 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 14 7 33.33 38 0 0.00 KIAA1024 23251 genome.wustl.edu 37 15 79750330 79750330 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 79750330 79750330 C T SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.1841 p.S614L 0.224 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 67 32 32.32 95 0 0.00 KIAA1024 23251 genome.wustl.edu 37 15 79750542 79750542 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 15 79750542 79750542 G A SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.2053 p.D685N 0.998 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 35 10 22.22 37 0 0.00 KIAA1024 23251 genome.wustl.edu 37 15 79760660 79760660 + Silent SNP G G C TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 15 79760660 79760660 G C SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known silent c.2685 p.L895 1.000 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 17 24 58.54 62 0 0.00 KIAA1024 23251 genome.wustl.edu 37 15 79760682 79760682 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 15 79760682 79760682 G A SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.2707 p.V903I 0.995 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 13 14 51.85 19 0 0.00 KIAA1024L 100127206 genome.wustl.edu 37 5 129100597 129100597 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 129100597 129100597 G C SNP KIAA1024L ENST00000564719 human ensembl 70_37 +1 known silent c.414 p.R138 0.998 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024L HGNC ENSG00000186367 31 13 29.55 49 0 0.00 KIAA1033 23325 genome.wustl.edu 37 12 105504914 105504914 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105504914 105504914 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.73 p.E25K 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 11 3 21.43 21 0 0.00 KIAA1033 23325 genome.wustl.edu 37 12 105520052 105520052 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 105520052 105520052 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.950 p.G317E 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 30 13 30.23 42 0 0.00 KIAA1033 23325 genome.wustl.edu 37 12 105538215 105538215 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105538215 105538215 C T SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.2161 p.R721C 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 13 6 31.58 44 0 0.00 KIAA1033 23325 genome.wustl.edu 37 12 105538628 105538628 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 105538628 105538628 T A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.2312 p.L771H 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 141 74 34.42 270 0 0.00 KIAA1033 23325 genome.wustl.edu 37 12 105558478 105558478 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 105558478 105558478 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known silent c.3414 p.K1138 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 19 6 24.00 45 0 0.00 KIAA1107 23285 genome.wustl.edu 37 1 92632614 92632614 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 92632614 92632614 C T SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known nonsense c.73 p.Q25* 0.563 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 24 10 29.41 58 0 0.00 KIAA1107 23285 genome.wustl.edu 37 1 92647526 92647526 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 92647526 92647526 C T SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known missense c.3137 p.S1046F 0.993 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 9 5 35.71 15 0 0.00 KIAA1107 23285 genome.wustl.edu 37 1 92647579 92647579 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92647579 92647579 G C SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known missense c.3190 p.E1064Q 1.000 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 19 12 38.71 26 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123094304 123094304 + Missense_Mutation SNP A A T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 123094304 123094304 A T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.211 p.I71F 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 51 49 49.00 113 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123140590 123140590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 123140590 123140590 G C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.2343 p.W781C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 53 31 36.90 99 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123145798 123145798 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 123145798 123145798 C A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.2759 p.A920D 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 68 36 34.29 109 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123160901 123160901 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123160901 123160901 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.4064 p.S1355L 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 38 10 20.83 43 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123165053 123165053 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123165053 123165053 A C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.4787 p.D1596A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 9 13 59.09 46 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123168401 123168401 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 123168401 123168401 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known nonsense c.5401 p.Q1801* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 12 10 45.45 23 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123227038 123227038 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 4 123227038 123227038 G A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.9679 p.E3227K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 21 7 25.00 92 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123234800 123234800 + Missense_Mutation SNP A A T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 123234800 123234800 A T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.10270 p.T3424S 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 37 10 21.28 58 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123254926 123254926 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123254926 123254926 G A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.11608 p.E3870K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 12 5 29.41 46 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123255617 123255617 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 123255617 123255617 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.11765 p.S3922F 0.982 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 25 3 10.71 43 0 0.00 KIAA1109 84162 genome.wustl.edu 37 4 123267858 123267858 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123267858 123267858 T C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.12814 p.Y4272H 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 20 8 28.57 49 0 0.00 KIAA1143 57456 genome.wustl.edu 37 3 44794861 44794861 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44794861 44794861 G C SNP KIAA1143 ENST00000296121 human ensembl 70_37 -1 known missense c.437 p.S146C 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 48 39 44.83 92 0 0.00 KIAA1191 57179 genome.wustl.edu 37 5 175774645 175774645 + Silent SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 175774645 175774645 G C SNP KIAA1191 ENST00000298569 human ensembl 70_37 -1 known silent c.876 p.L292 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 53 23 30.26 56 0 0.00 KIAA1199 57214 genome.wustl.edu 37 15 81217005 81217005 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 81217005 81217005 C T SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.2246 p.S749F 0.990 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 23 6 20.69 39 0 0.00 KIAA1199 57214 genome.wustl.edu 37 15 81221397 81221397 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 81221397 81221397 G A SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.2494 p.E832K 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 54 22 28.95 82 0 0.00 KIAA1199 57214 genome.wustl.edu 37 15 81234256 81234256 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 81234256 81234256 C G SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known silent c.3474 p.G1158 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 13 12 48.00 17 0 0.00 KIAA1199 57214 genome.wustl.edu 37 15 81241206 81241206 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 81241206 81241206 C T SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.4027 p.H1343Y 0.499 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 34 6 15.00 63 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118222063 118222063 + Missense_Mutation SNP T T G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118222063 118222063 T G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.3130 p.T1044P 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 21 27 56.25 120 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118222151 118222151 + Silent SNP C C G TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 118222151 118222151 C G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known silent c.3042 p.V1014 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 159 91 36.40 267 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118223212 118223212 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 118223212 118223212 C G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1981 p.E661Q 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 14 31 68.89 38 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118223458 118223458 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 118223458 118223458 C T SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1735 p.A579T 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 57 48 45.28 76 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118227698 118227698 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 118227698 118227698 G T SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1415 p.S472Y 0.025 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 32 20 38.46 59 0 0.00 KIAA1210 57481 genome.wustl.edu 37 X 118242373 118242373 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 118242373 118242373 C G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.839 p.G280A 0.001 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 29 18 38.30 39 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57179512 57179512 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 57179512 57179512 G C SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.504 p.Q168H 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 19 14 42.42 26 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180239 57180239 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57180239 57180239 C T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.571 p.R191W 0.490 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 28 12 30.00 31 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180239 57180239 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57180239 57180239 C T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known missense c.571 p.R191W 0.490 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 53 13 19.70 57 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 8 4 33.33 20 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 8 5 38.46 10 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180594 57180595 + Frame_Shift_Ins INS - - G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 57180594 57180595 - G INS KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_ins c.926_927 p.E310fs 0.011:0.002 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 9 3 25.00 19 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57180594 57180595 + Frame_Shift_Ins INS - - G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 57180594 57180595 - G INS KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_ins c.926_927 p.E310fs 0.011:0.002 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 9 4 30.77 10 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57182677 57182677 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57182677 57182677 G A SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known silent c.3009 p.P1003 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 22 3 11.54 21 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57182677 57182677 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 57182677 57182677 G A SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known silent c.3009 p.P1003 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 28 12 30.00 27 0 0.00 KIAA1211 57482 genome.wustl.edu 37 4 57193851 57193851 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 57193851 57193851 G T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known nonsense c.3583 p.E1195* 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 16 11 40.74 49 0 0.00 KIAA1211L 343990 genome.wustl.edu 37 2 99439361 99439361 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 99439361 99439361 C G SNP KIAA1211L ENST00000397899 human ensembl 70_37 -1 known missense c.1375 p.E459Q 0.489 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 22 3 12.00 25 0 0.00 KIAA1217 56243 genome.wustl.edu 37 10 24784015 24784015 + RNA DEL A A - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 24784015 24784015 A - DEL KIAA1217 ENST00000460373 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 16 7 30.43 14 0 0.00 KIAA1217 56243 genome.wustl.edu 37 10 24820871 24820871 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 24820871 24820871 G A SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known silent c.3195 p.T1065 0.434 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 34 15 30.61 56 0 0.00 KIAA1217 56243 genome.wustl.edu 37 10 24825775 24825775 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 24825775 24825775 G A SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known missense c.3487 p.V1163I 0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 49 11 18.33 49 0 0.00 KIAA1217 56243 genome.wustl.edu 37 10 24835047 24835047 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 10 24835047 24835047 C T SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known missense c.5626 p.L1876F 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 49 34 40.96 93 0 0.00 KIAA1217 56243 genome.wustl.edu 37 10 24835135 24835135 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 24835135 24835135 C G SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known nonsense c.5714 p.S1905* 0.924 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 27 14 34.15 55 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37435519 37435519 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 37435519 37435519 G A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.583 p.E195K 0.998 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 46 14 23.33 27 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37444950 37444950 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 37444950 37444950 C A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.1340 p.P447Q 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 36 4 10.00 42 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37444966 37444966 + Missense_Mutation SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 37444966 37444966 A T SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.1356 p.R452S 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 50 12 19.35 52 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37445135 37445135 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 37445135 37445135 C G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.1525 p.L509V 0.963 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 40 13 24.53 60 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37445470 37445470 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 37445470 37445470 G A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.1860 p.V620 0.993 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 45 29 39.19 55 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37446088 37446088 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 37446088 37446088 C A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.2478 p.I826 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 27 21 43.75 59 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37446158 37446158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 37446158 37446158 C G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.2548 p.L850V 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 40 11 21.57 43 0 0.00 KIAA1239 57495 genome.wustl.edu 37 4 37447402 37447402 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 37447402 37447402 A G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.3792 p.G1264 0.573 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 17 8 32.00 38 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138583935 138583935 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 138583935 138583935 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.1315 p.E439K 0.997 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 96 34 26.15 110 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138584598 138584598 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 138584598 138584598 C G SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.1978 p.L660V 0.307 superfamily_ARM-type_fold,smart_Sec7 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 31 10 24.39 29 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138608232 138608232 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 138608232 138608232 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.2807 p.S936L 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 56 16 22.22 37 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138612946 138612946 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 138612946 138612946 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known nonsense c.3124 p.Q1042* 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 13 10 43.48 31 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138613152 138613152 + Silent SNP G G A TCGA-DG-A2KJ-01A-11D-A18J-09 TCGA-DG-A2KJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8be2b0f5-7bad-4720-b13c-e95b32bdb933 8741af22-0355-4085-9c09-abee617690d0 6 138613152 138613152 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known silent c.3330 p.A1110 0.005 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 12 3 20.00 9 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138613167 138613167 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 138613167 138613167 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known silent c.3345 p.L1115 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 1 12 92.31 10 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138640859 138640859 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 138640859 138640859 T C SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known silent c.4494 p.Y1498 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 41 26 38.81 78 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138649264 138649264 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 138649264 138649264 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.5108 p.G1703E 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 6 6 50.00 9 0 0.00 KIAA1244 57221 genome.wustl.edu 37 6 138656032 138656032 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 138656032 138656032 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.6049 p.A2017T 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 25 9 26.47 40 0 0.00 KIAA1257 57501 genome.wustl.edu 37 3 128696936 128696936 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128696936 128696936 G A SNP KIAA1257 ENST00000265068 human ensembl 70_37 -1 known missense c.760 p.P254S 0.000 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 161 57 26.15 87 0 0.00 KIAA1257 57501 genome.wustl.edu 37 3 128697045 128697045 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 128697045 128697045 G A SNP KIAA1257 ENST00000507225 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KIAA1257 HGNC ENSG00000114656 58 28 32.56 82 0 0.00 KIAA1279 26128 genome.wustl.edu 37 10 70775519 70775519 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70775519 70775519 G C SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1213 p.E405Q 0.999 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 37 20 35.09 72 0 0.00 KIAA1279 26128 genome.wustl.edu 37 10 70775758 70775758 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70775758 70775758 G C SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1452 p.M484I 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 37 24 38.71 43 0 0.00 KIAA1279 26128 genome.wustl.edu 37 10 70775881 70775881 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 70775881 70775881 A G SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known silent c.1575 p.R525 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 25 12 32.43 39 0 0.00 KIAA1279 26128 genome.wustl.edu 37 10 70775886 70775886 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 70775886 70775886 C T SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1580 p.P527L 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 11 13 54.17 42 0 0.00 KIAA1279 26128 genome.wustl.edu 37 10 70776150 70776150 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70776150 70776150 G A SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1844 p.R615K 1.000 NULL pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 18 7 28.00 12 0 0.00 KIAA1324 57535 genome.wustl.edu 37 1 109707183 109707183 + Missense_Mutation SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 109707183 109707183 G C SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.337 p.E113Q 0.993 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 23 13 36.11 57 0 0.00 KIAA1324 57535 genome.wustl.edu 37 1 109714534 109714534 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 109714534 109714534 G A SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.514 p.E172K 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 152 19 11.11 143 0 0.00 KIAA1324 57535 genome.wustl.edu 37 1 109731732 109731732 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 109731732 109731732 G A SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.1264 p.E422K 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 60 9 13.04 34 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101815077 101815077 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 101815077 101815077 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known silent c.330 p.K110 0.998 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 2 19 90.48 14 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101818816 101818816 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 101818816 101818816 C A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.449 p.S150Y 0.969 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 6 14 70.00 34 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101833080 101833080 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833080 101833080 G C SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1314 p.E438D 0.063 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 1 9 90.00 24 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101833184 101833184 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833184 101833184 G C SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1418 p.R473T 0.039 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 4 21 84.00 42 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101833426 101833426 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833426 101833426 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1660 p.D554N 0.991 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 3 14 82.35 30 0 0.00 KIAA1377 57562 genome.wustl.edu 37 11 101834545 101834545 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101834545 101834545 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.2779 p.E927K 0.303 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 2 16 88.89 23 0 0.00 MAP10 54627 genome.wustl.edu 37 1 232941134 232941134 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 232941134 232941134 G T SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known missense c.365 p.R122I 1.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 23 12 34.29 62 0 0.00 MAP10 54627 genome.wustl.edu 37 1 232943181 232943181 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 232943181 232943181 G T SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known missense c.2412 p.K804N 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 29 4 12.12 31 0 0.00 MAP10 54627 genome.wustl.edu 37 1 232943202 232943202 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 232943202 232943202 C G SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known silent c.2433 p.V811 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 18 15 45.45 37 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113724430 113724430 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 113724430 113724430 G C SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1793 p.A598G 0.008 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 142 35 19.77 72 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113724628 113724628 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 113724628 113724628 C T SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1595 p.G532D 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 40 8 16.33 48 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113729657 113729657 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 113729657 113729657 C A SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1375 p.A459S 0.219 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 27 4 12.90 19 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113729736 113729736 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 113729736 113729736 C T SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known silent c.1296 p.K432 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 6 8 57.14 20 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113753989 113753989 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 113753989 113753989 C G SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 29 18 38.30 45 0 0.00 KIAA1407 57577 genome.wustl.edu 37 3 113761569 113761569 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113761569 113761569 C G SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.396 p.L132F 0.719 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 42 7 14.29 57 0 0.00 KIAA1429 25962 genome.wustl.edu 37 8 95500998 95500998 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 95500998 95500998 G T SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known nonsense c.5375 p.S1792* 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 25 3 10.71 23 0 0.00 KIAA1429 25962 genome.wustl.edu 37 8 95508692 95508692 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 95508692 95508692 T A SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.4247 p.D1416V 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 20 7 25.93 61 0 0.00 KIAA1429 25962 genome.wustl.edu 37 8 95522724 95522724 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 95522724 95522724 G T SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.3547 p.Q1183K 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 26 15 35.71 22 0 0.00 KIAA1429 25962 genome.wustl.edu 37 8 95523629 95523629 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 95523629 95523629 C G SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.3174 p.Q1058H 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 33 13 28.26 31 0 0.00 KIAA1429 25962 genome.wustl.edu 37 8 95539477 95539477 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 95539477 95539477 G A SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.995 p.S332L 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 24 12 33.33 29 0 0.00 KIAA1430 57587 genome.wustl.edu 37 4 186085307 186085307 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 186085307 186085307 C T SNP KIAA1430 ENST00000458385 human ensembl 70_37 -1 novel silent c.1347 p.V449 1.000 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 36 16 30.77 37 0 0.00 KIAA1430 57587 genome.wustl.edu 37 4 186111575 186111575 + Nonsense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 186111575 186111575 G C SNP KIAA1430 ENST00000296775 human ensembl 70_37 -1 known nonsense c.776 p.S259* 0.993 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 23 12 34.29 45 0 0.00 KIAA1430 57587 genome.wustl.edu 37 4 186112193 186112193 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186112193 186112193 G A SNP KIAA1430 ENST00000296775 human ensembl 70_37 -1 known missense c.158 p.S53L 0.089 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 19 11 36.67 39 0 0.00 KIAA1432 57589 genome.wustl.edu 37 9 5765691 5765691 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5765691 5765691 C A SNP KIAA1432 ENST00000418622 human ensembl 70_37 +1 known missense c.2793 p.F931L 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 33 26 44.07 60 0 0.00 KIAA1432 57589 genome.wustl.edu 37 9 5774025 5774025 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 5774025 5774025 G C SNP KIAA1432 ENST00000418622 human ensembl 70_37 +1 known missense c.3814 p.E1272Q 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 55 20 26.67 132 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30315291 30315291 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30315291 30315291 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3786 p.M1262I 1.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 16 5 23.81 38 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30315869 30315869 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 30315869 30315869 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3208 p.E1070K 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 22 7 24.14 28 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30315873 30315873 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 30315873 30315873 C G SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3204 p.L1068F 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 26 10 27.78 29 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30316395 30316395 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 30316395 30316395 C G SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known silent c.2682 p.P894 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 27 20 42.55 26 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30316406 30316406 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30316406 30316406 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2671 p.E891K 0.001 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 27 9 25.00 47 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30316418 30316418 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30316418 30316418 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2659 p.E887K 0.006 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 27 8 22.86 47 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30316447 30316447 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 30316447 30316447 T C SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2630 p.E877G 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 15 3 16.67 35 0 0.00 KIAA1462 57608 genome.wustl.edu 37 10 30317689 30317689 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 30317689 30317689 G T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.1388 p.P463Q 0.016 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 33 4 10.81 41 0 0.00 KIAA1467 57613 genome.wustl.edu 37 12 13208765 13208765 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 13208765 13208765 C G SNP KIAA1467 ENST00000197268 human ensembl 70_37 +1 known silent c.318 p.V106 0.990 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors KIAA1467 HGNC ENSG00000084444 19 6 24.00 42 0 0.00 KIAA1467 57613 genome.wustl.edu 37 12 13233558 13233558 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13233558 13233558 G T SNP KIAA1467 ENST00000197268 human ensembl 70_37 +1 known splice_site c.1864-1 e13-1 0.022 - - - no_errors KIAA1467 HGNC ENSG00000084444 8 8 50.00 27 0 0.00 KIAA1468 57614 genome.wustl.edu 37 18 59928806 59928806 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 59928806 59928806 G C SNP KIAA1468 ENST00000256858 human ensembl 70_37 +1 known missense c.2265 p.L755F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 14 8 36.36 22 0 0.00 KIAA1468 57614 genome.wustl.edu 37 18 59947665 59947665 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 59947665 59947665 G A SNP KIAA1468 ENST00000398130 human ensembl 70_37 +1 known missense c.3040 p.D1014N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 25 17 40.48 37 0 0.00 KIAA1522 57648 genome.wustl.edu 37 1 33234342 33234342 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 33234342 33234342 G T SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known silent c.552 p.A184 0.345 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 24 4 14.29 47 0 0.00 KIAA1522 57648 genome.wustl.edu 37 1 33236208 33236208 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 33236208 33236208 C T SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known silent c.1428 p.L476 0.484 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 53 39 42.39 22 0 0.00 KIAA1522 57648 genome.wustl.edu 37 1 33237475 33237475 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33237475 33237475 C G SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known missense c.2695 p.P899A 0.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 5 7 58.33 18 0 0.00 KIAA1522 57648 genome.wustl.edu 37 1 33237623 33237623 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33237623 33237623 C G SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known nonsense c.2843 p.S948* 0.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 10 6 37.50 16 0 0.00 KIAA1524 57650 genome.wustl.edu 37 3 108276072 108276072 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 108276072 108276072 G A SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.2203 p.L735F 0.954 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 64 25 28.09 93 0 0.00 KIAA1524 57650 genome.wustl.edu 37 3 108276131 108276131 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 108276131 108276131 C A SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.2144 p.R715M 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 87 15 14.42 25 0 0.00 KIAA1524 57650 genome.wustl.edu 37 3 108278654 108278654 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 108278654 108278654 C T SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.1963 p.D655N 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 41 9 18.00 19 0 0.00 KIAA1524 57650 genome.wustl.edu 37 3 108279559 108279559 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 108279559 108279559 C T SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known silent c.1764 p.L588 0.019 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 34 20 37.04 84 0 0.00 KIAA1549 57670 genome.wustl.edu 37 7 138524885 138524885 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 138524885 138524885 C G SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.5591 p.R1864T 0.994 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 81 13 13.83 56 0 0.00 KIAA1549 57670 genome.wustl.edu 37 7 138529164 138529164 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 138529164 138529164 G C SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.5350 p.Q1784E 0.094 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 30 26 46.43 58 0 0.00 KIAA1549 57670 genome.wustl.edu 37 7 138566166 138566166 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 138566166 138566166 C G SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.4197 p.K1399N 0.942 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 98 32 24.62 112 0 0.00 KIAA1549 57670 genome.wustl.edu 37 7 138588413 138588413 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 138588413 138588413 G A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.3590 p.A1197V 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 23 4 14.81 64 0 0.00 KIAA1549 57670 genome.wustl.edu 37 7 138588463 138588463 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 138588463 138588463 C A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.3540 p.E1180D 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 16 15 48.39 53 0 0.00 KIAA1549L 25758 genome.wustl.edu 37 11 33564473 33564473 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 33564473 33564473 A G SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.473 p.E158G 0.839 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 23 11 32.35 28 0 0.00 KIAA1549L 25758 genome.wustl.edu 37 11 33583270 33583270 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 33583270 33583270 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known nonsense c.3194 p.W1065* 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 44 7 13.73 67 0 0.00 KIAA1549L 25758 genome.wustl.edu 37 11 33631415 33631415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 33631415 33631415 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.4309 p.E1437K 0.993 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 18 9 33.33 38 0 0.00 KIAA1549L 25758 genome.wustl.edu 37 11 33667358 33667358 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 33667358 33667358 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.4663 p.E1555K 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 36 4 10.00 58 0 0.00 KIAA1549L 25758 genome.wustl.edu 37 11 33682526 33682526 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 33682526 33682526 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.5252 p.G1751E 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 38 13 25.49 66 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32135838 32135838 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 32135838 32135838 G A SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.1949 p.C650Y 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 24 4 14.29 41 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32137827 32137827 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 32137827 32137827 C A SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.3938 p.S1313Y 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 9 6 40.00 16 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32138266 32138266 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 32138266 32138266 G C SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known silent c.4377 p.L1459 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 6 7 53.85 18 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32140176 32140176 + Nonsense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 32140176 32140176 C G SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known nonsense c.5006 p.S1669* 1.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 51 30 37.04 81 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32140196 32140196 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 32140196 32140196 G T SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known nonsense c.5026 p.E1676* 1.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 18 3 14.29 35 0 0.00 KIAA1551 55196 genome.wustl.edu 37 12 32145362 32145362 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 32145362 32145362 G C SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.5137 p.E1713Q 0.024 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 13 5 27.78 33 0 0.00 KIAA1586 57691 genome.wustl.edu 37 6 56917955 56917955 + Nonsense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 6 56917955 56917955 C T SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known nonsense c.658 p.Q220* 0.991 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 10 3 23.08 15 0 0.00 KIAA1586 57691 genome.wustl.edu 37 6 56918108 56918108 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 56918108 56918108 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.811 p.E271K 0.974 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 43 17 28.33 57 0 0.00 KIAA1586 57691 genome.wustl.edu 37 6 56918108 56918108 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 56918108 56918108 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.811 p.E271K 0.974 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 67 15 18.29 30 0 0.00 KIAA1586 57691 genome.wustl.edu 37 6 56918562 56918562 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56918562 56918562 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.1265 p.R422Q 0.989 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 13 6 31.58 26 0 0.00 KIAA1614 57710 genome.wustl.edu 37 1 180907775 180907775 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 180907775 180907775 C G SNP KIAA1614 ENST00000367588 human ensembl 70_37 +1 known nonsense c.2846 p.S949* 0.694 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 26 11 29.73 25 0 0.00 KIAA1614 57710 genome.wustl.edu 37 1 180913548 180913548 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 180913548 180913548 G A SNP KIAA1614 ENST00000367588 human ensembl 70_37 +1 known silent c.3183 p.R1061 1.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 56 22 28.21 71 0 0.00 KIAA1644 85352 genome.wustl.edu 37 22 44681447 44681447 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 44681447 44681447 G A SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative missense c.460 p.R154W 0.998 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 25 14 35.90 39 0 0.00 KIAA1644 85352 genome.wustl.edu 37 22 44681447 44681447 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 44681447 44681447 G C SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative missense c.460 p.R154G 0.998 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 21 15 41.67 23 0 0.00 KIAA1644 85352 genome.wustl.edu 37 22 44692659 44692659 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 44692659 44692659 G C SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative silent c.174 p.L58 0.996 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 47 18 27.69 68 0 0.00 KIAA1671 85379 genome.wustl.edu 37 22 25586705 25586705 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 25586705 25586705 G C SNP KIAA1671 ENST00000358431 human ensembl 70_37 +1 known missense c.5379 p.L1793F 1.000 NULL NULL - no_errors KIAA1671 HGNC ENSG00000197077 46 21 31.34 79 0 0.00 KIAA1683 80726 genome.wustl.edu 37 19 18376082 18376082 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18376082 18376082 G A SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known silent c.2268 p.L756 0.002 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 42 30 41.67 57 0 0.00 KIAA1683 80726 genome.wustl.edu 37 19 18377934 18377934 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18377934 18377934 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.416 p.R139H 0.145 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 46 25 35.21 42 0 0.00 KIAA1683 80726 genome.wustl.edu 37 19 18378102 18378102 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 18378102 18378102 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.248 p.R83Q 0.305 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 26 7 21.21 57 0 0.00 KIAA1683 80726 genome.wustl.edu 37 19 18380275 18380275 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18380275 18380275 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known splice_site c.13+1 e1+1 1.000 - - - no_errors KIAA1683 HGNC ENSG00000130518 13 15 53.57 61 0 0.00 KIAA1683 80726 genome.wustl.edu 37 19 18380286 18380286 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 18380286 18380286 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 44 17 27.87 61 0 0.00 KIAA1704 55425 genome.wustl.edu 37 13 45563760 45563760 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 45563760 45563760 C T SNP KIAA1704 ENST00000479068 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1704 HGNC ENSG00000133114 45 15 25.00 42 0 0.00 KIAA1715 80856 genome.wustl.edu 37 2 176794800 176794800 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 176794800 176794800 C A SNP KIAA1715 ENST00000544803 human ensembl 70_37 -1 known missense c.1275 p.E425D 0.659 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 49 35 41.67 106 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93399888 93399888 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 93399888 93399888 C T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known silent c.15 p.V5 0.001 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 11 4 26.67 17 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93431029 93431029 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 93431029 93431029 G A SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.2951 p.R984K 0.006 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 37 6 13.95 36 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93431613 93431613 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 11 93431613 93431613 G A SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.3535 p.A1179T 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 7 4 36.36 14 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93431732 93431732 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 93431732 93431732 G T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.3654 p.Q1218H 0.067 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 7 5 41.67 21 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93432821 93432821 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93432821 93432821 G C SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.4743 p.E1581D 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 15 2 11.76 15 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93432930 93432930 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 93432930 93432930 G T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known nonsense c.4852 p.E1618* 0.011 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 25 4 13.79 36 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93433163 93433163 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 93433163 93433163 G A SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known silent c.5085 p.L1695 0.001 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 24 5 17.24 48 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93461907 93461907 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 93461907 93461907 G T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.7222 p.D2408Y 0.997 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 28 16 36.36 33 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93461963 93461963 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 93461963 93461963 G C SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.7278 p.E2426D 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 28 13 31.71 31 0 0.00 KIAA1731 85459 genome.wustl.edu 37 11 93463406 93463406 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 93463406 93463406 G C SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.7780 p.E2594Q 0.990 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 14 8 36.36 16 0 0.00 KIAA1755 85449 genome.wustl.edu 37 20 36846737 36846737 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 36846737 36846737 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known missense c.2588 p.R863Q 0.008 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 59 45 43.27 50 0 0.00 KIAA1755 85449 genome.wustl.edu 37 20 36850988 36850988 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 36850988 36850988 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.2280 p.R760 0.379 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 25 5 16.67 24 0 0.00 KIAA1755 85449 genome.wustl.edu 37 20 36856603 36856603 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 36856603 36856603 G A SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.1911 p.D637 0.987 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 64 22 25.58 62 0 0.00 KIAA1755 85449 genome.wustl.edu 37 20 36869138 36869138 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 20 36869138 36869138 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.1395 p.E465 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 60 8 11.76 61 0 0.00 KIAA1755 85449 genome.wustl.edu 37 20 36874342 36874342 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 36874342 36874342 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known missense c.190 p.E64K 0.998 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 23 26 53.06 35 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233482309 233482309 + Silent SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 233482309 233482309 C A SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known silent c.927 p.A309 0.991 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 19 4 17.39 49 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233489616 233489616 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 233489616 233489616 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known silent c.1050 p.L350 0.025 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 34 12 25.53 70 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233497990 233497990 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 233497990 233497990 G C SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known missense c.1503 p.K501N 0.997 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 31 5 13.89 35 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233514845 233514845 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 233514845 233514845 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known missense c.2093 p.A698V 0.685 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 21 3 12.00 36 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233518245 233518245 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 233518245 233518245 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known nonsense c.2899 p.Q967* 0.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 28 8 22.22 19 0 0.00 KIAA1804 84451 genome.wustl.edu 37 1 233518365 233518365 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 233518365 233518365 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known nonsense c.3019 p.Q1007* 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename ENSG00000143674 3 5 62.50 18 0 0.00 KIAA1841 84542 genome.wustl.edu 37 2 61310442 61310442 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 61310442 61310442 T G SNP KIAA1841 ENST00000356719 human ensembl 70_37 +1 known missense c.883 p.F295V 0.998 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 5 5 50.00 14 0 0.00 KIAA1841 84542 genome.wustl.edu 37 2 61315639 61315640 + RNA DEL TA TA - TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 61315639 61315640 TA - DEL KIAA1841 ENST00000482513 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors KIAA1841 HGNC ENSG00000162929 20 5 20.00 46 0 0.00 KIAA1841 84542 genome.wustl.edu 37 2 61361326 61361326 + Frame_Shift_Del DEL G G - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 61361326 61361326 G - DEL KIAA1841 ENST00000295031 human ensembl 70_37 +1 known frame_shift_del c.2083 p.G695fs 0.088 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 74 12 13.95 92 0 0.00 KIAA1841 84542 genome.wustl.edu 37 2 61385089 61385089 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 61385089 61385089 C G SNP KIAA1841 ENST00000398622 human ensembl 70_37 +1 known missense c.77 p.S26C 0.000 NULL NULL - no_errors KIAA1841 HGNC ENSG00000162929 49 10 16.95 73 0 0.00 KIAA1841 84542 genome.wustl.edu 37 2 61385090 61385090 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 61385090 61385090 C T SNP KIAA1841 ENST00000398622 human ensembl 70_37 +1 known silent c.78 p.S26 0.001 NULL NULL - no_errors KIAA1841 HGNC ENSG00000162929 49 10 16.95 71 0 0.00 KIAA1875 340390 genome.wustl.edu 37 8 145163617 145163617 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145163617 145163617 G T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known missense c.648 p.M216I 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KIAA1875 HGNC ENSG00000179698 30 13 30.23 14 0 0.00 KIAA1875 340390 genome.wustl.edu 37 8 145163767 145163767 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 145163767 145163767 C T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known silent c.798 p.F266 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KIAA1875 HGNC ENSG00000179698 116 17 12.78 89 0 0.00 KIAA1875 340390 genome.wustl.edu 37 8 145164292 145164292 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145164292 145164292 C T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known missense c.1055 p.S352L 0.869 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KIAA1875 HGNC ENSG00000179698 22 8 26.67 21 0 0.00 KIAA1875 340390 genome.wustl.edu 37 8 145166328 145166328 + Splice_Site SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 145166328 145166328 G T SNP KIAA1875 ENST00000323662 human ensembl 70_37 +1 putative splice_site c.2427-1 e11-1 0.980 - - - no_errors KIAA1875 HGNC ENSG00000179698 34 4 10.53 36 0 0.00 KIAA1919 91749 genome.wustl.edu 37 6 111587259 111587259 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111587259 111587259 C G SNP KIAA1919 ENST00000368847 human ensembl 70_37 +1 known nonsense c.494 p.S165* 0.568 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 18 6 25.00 20 0 0.00 KIAA1919 91749 genome.wustl.edu 37 6 111588064 111588064 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 111588064 111588064 G T SNP KIAA1919 ENST00000368847 human ensembl 70_37 +1 known silent c.1299 p.G433 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 19 4 17.39 15 0 0.00 KIAA1958 158405 genome.wustl.edu 37 9 115336810 115336810 + Missense_Mutation SNP G G T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 9 115336810 115336810 G T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known missense c.450 p.E150D 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 99 61 38.12 210 0 0.00 KIAA1958 158405 genome.wustl.edu 37 9 115380184 115380184 + Missense_Mutation SNP A A T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 115380184 115380184 A T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known missense c.1205 p.E402V 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 20 4 16.67 29 0 0.00 KIAA1958 158405 genome.wustl.edu 37 9 115380203 115380203 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 115380203 115380203 C T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known silent c.1224 p.I408 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 40 12 23.08 29 0 0.00 KIAA1958 158405 genome.wustl.edu 37 9 115421911 115421911 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 115421911 115421911 G A SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known silent c.1797 p.T599 0.408 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 35 15 30.00 67 0 0.00 KIAA1967 57805 genome.wustl.edu 37 8 22470619 22470619 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 22470619 22470619 G A SNP KIAA1967 ENST00000308511 human ensembl 70_37 +1 known missense c.674 p.R225Q 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors KIAA1967 HGNC ENSG00000158941 39 20 33.90 71 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139690910 139690910 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139690910 139690910 C G SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known missense c.61 p.Q21E 0.105 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 31 23 42.59 39 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139694867 139694867 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139694867 139694867 C T SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.465 p.I155 0.953 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 55 20 26.67 34 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139700619 139700619 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700619 139700619 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.1038 p.L346 0.651 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 13 20 60.61 35 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139700649 139700649 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700649 139700649 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.1068 p.E356 0.957 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 21 18 46.15 42 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139700700 139700700 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700700 139700700 G A SNP KIAA1984 ENST00000371682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1984 HGNC ENSG00000213213 26 28 51.85 68 0 0.00 KIAA1984 84960 genome.wustl.edu 37 9 139701034 139701034 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139701034 139701034 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known missense c.1188 p.M396I 0.816 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 20 11 35.48 27 0 0.00 KIAA2013 90231 genome.wustl.edu 37 1 11983500 11983500 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 11983500 11983500 G A SNP KIAA2013 ENST00000376576 human ensembl 70_37 -1 known silent c.1080 p.L360 0.999 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 59 31 34.44 101 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113374816 113374816 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 113374816 113374816 C G SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.5713 p.D1905H 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 34 15 30.61 34 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113376116 113376116 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 113376116 113376116 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known silent c.4413 p.Q1471 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 40 13 24.53 21 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113376217 113376217 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 113376217 113376217 G C SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.4312 p.L1438V 0.905 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 29 14 32.56 65 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113377147 113377147 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 113377147 113377147 C A SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known nonsense c.3382 p.E1128* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 30 4 11.76 10 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113379802 113379802 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 113379802 113379802 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.727 p.E243K 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 64 15 18.99 54 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113379988 113379988 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 113379988 113379988 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.541 p.A181T 0.987 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 52 13 20.00 63 0 0.00 KIAA2018 205717 genome.wustl.edu 37 3 113388987 113388987 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 113388987 113388987 C G SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.140 p.C47S 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 21 14 40.00 32 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73959275 73959275 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 73959275 73959275 C G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.4516 p.E1506Q 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 40 9 18.37 70 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73960742 73960742 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 73960742 73960742 C T SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.3650 p.R1217H 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 101 66 39.29 112 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73960815 73960815 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73960815 73960815 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known nonsense c.3577 p.Q1193* 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 92 18 16.36 119 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73962042 73962042 + Missense_Mutation SNP T T G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 73962042 73962042 T G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.2350 p.S784R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 35 9 20.45 41 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73962043 73962043 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 73962043 73962043 C A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.2349 p.K783N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 23 15 39.47 44 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73962692 73962692 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 73962692 73962692 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.1700 p.T567I 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 149 18 10.78 107 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73962692 73962692 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 73962692 73962692 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.1700 p.T567I 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 33 7 17.50 31 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73963960 73963960 + Silent SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 73963960 73963960 C G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known silent c.432 p.R144 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 40 8 16.67 41 0 0.00 KIAA2022 340533 genome.wustl.edu 37 X 73965413 73965413 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 73965413 73965413 C A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known nonsense c.73 p.E25* 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 9 9 50.00 25 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5921108 5921108 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5921108 5921108 T G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.4888 p.N1630H 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 13 4 23.53 32 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5921188 5921188 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 5921188 5921188 G A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.4808 p.T1603I 0.154 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 17 9 34.62 31 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5923062 5923062 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 5923062 5923062 C T SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel silent c.2934 p.K978 0.683 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 105 53 33.54 206 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5923119 5923119 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 5923119 5923119 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.2877 p.E959D 0.851 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 83 16 16.16 55 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5923156 5923156 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 5923156 5923156 A G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.2840 p.L947P 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 74 9 10.84 65 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5968043 5968044 + Frame_Shift_Ins INS - - T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 5968043 5968044 - T INS KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel frame_shift_ins c.2188_2187 p.A729fs 1.000:1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 23 3 11.54 30 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 5988363 5988363 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 5988363 5988363 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.776 p.R259T 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 45 7 13.46 44 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 6007361 6007361 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 6007361 6007361 C A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel nonsense c.427 p.E143* 1.000 superfamily_Bromodomain superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 30 4 11.76 30 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 6007497 6007497 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6007497 6007497 G A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel silent c.291 p.L97 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 26 23 46.94 60 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 6007599 6007599 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 6007599 6007599 C T SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.189 p.M63I 0.986 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 51 42 45.16 84 0 0.00 KIAA2026 158358 genome.wustl.edu 37 9 6007613 6007613 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 6007613 6007613 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.175 p.E59Q 0.004 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 76 10 11.63 113 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8873633 8873633 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 8873633 8873633 C G SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.3994 p.E1332Q 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 51 50 49.50 65 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8874824 8874824 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 8874824 8874824 C T SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.3777 p.M1259I 1.000 superfamily_SAM/pointed pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 27 11 28.95 41 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8918771 8918771 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 8918771 8918771 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.2701 p.R901W 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 38 28 42.42 74 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8926071 8926071 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8926071 8926071 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.2029 p.L677 0.831 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 15 12 44.44 32 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8930014 8930014 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930014 8930014 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1617 p.F539 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 35 20 36.36 43 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8930028 8930028 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930028 8930028 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.1603 p.L535F 0.341 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 40 17 29.82 44 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8930035 8930035 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930035 8930035 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1596 p.F532 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 43 18 29.51 43 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8931324 8931325 + Frame_Shift_Ins INS - - CA TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 8931324 8931325 - CA INS KIDINS220 ENST00000256707 human ensembl 70_37 -1 known frame_shift_ins c.1307_1306 p.D436fs 1.000:1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 20 9 31.03 41 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8931331 8931331 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 8931331 8931331 C G SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.1300 p.D434H 0.995 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 26 9 25.71 43 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8934073 8934073 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 8934073 8934073 C A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1143 p.R381 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 42 15 26.32 64 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8936988 8936988 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 8936988 8936988 C T SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1011 p.T337 0.923 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 43 17 28.33 63 0 0.00 KIDINS220 57498 genome.wustl.edu 37 2 8967125 8967125 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 8967125 8967125 C T SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.99 p.E33 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 30 28 48.28 78 0 0.00 KIF11 3832 genome.wustl.edu 37 10 94368777 94368777 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 94368777 94368777 G C SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.388 p.D130H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 50 26 34.21 84 0 0.00 KIF11 3832 genome.wustl.edu 37 10 94389984 94389984 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 94389984 94389984 G C SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.1357 p.D453H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 14 14 50.00 24 0 0.00 KIF11 3832 genome.wustl.edu 37 10 94397061 94397061 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 94397061 94397061 G A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.1996 p.D666N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 16 22 57.89 82 0 0.00 KIF11 3832 genome.wustl.edu 37 10 94397237 94397237 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 94397237 94397237 G A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.2095 p.E699K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 12 19 61.29 24 0 0.00 KIF11 3832 genome.wustl.edu 37 10 94410249 94410249 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 94410249 94410249 C A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known nonsense c.3014 p.S1005* 0.009 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 30 4 11.76 36 0 0.00 KIF12 113220 genome.wustl.edu 37 9 116854204 116854204 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 116854204 116854204 G A SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known silent c.1878 p.G626 0.821 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 49 18 26.47 123 0 0.00 KIF12 113220 genome.wustl.edu 37 9 116854235 116854235 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 116854235 116854235 C T SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known missense c.1847 p.R616K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 24 9 27.27 54 0 0.00 KIF12 113220 genome.wustl.edu 37 9 116854239 116854239 + Frame_Shift_Del DEL G G - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 116854239 116854239 G - DEL KIF12 ENST00000259410 human ensembl 70_37 -1 known frame_shift_del c.1843 p.L615fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 12 2 14.29 49 0 0.00 KIF12 113220 genome.wustl.edu 37 9 116858726 116858726 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116858726 116858726 G C SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known missense c.664 p.L222V 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 48 15 23.81 44 0 0.00 KIF12 113220 genome.wustl.edu 37 9 116859689 116859689 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 116859689 116859689 G A SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known missense c.523 p.P175S 0.981 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 17 9 34.62 22 0 0.00 KIF13A 63971 genome.wustl.edu 37 6 17826009 17826009 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 17826009 17826009 C T SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known silent c.1776 p.L592 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 33 31 48.44 70 0 0.00 KIF13A 63971 genome.wustl.edu 37 6 17826021 17826021 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 6 17826021 17826021 G A SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known silent c.1764 p.I588 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 23 20 46.51 72 0 0.00 KIF13A 63971 genome.wustl.edu 37 6 17831361 17831361 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 17831361 17831361 G A SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.1372 p.L458F 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 25 12 32.43 73 0 0.00 KIF13A 63971 genome.wustl.edu 37 6 17837725 17837725 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 17837725 17837725 G A SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.920 p.S307L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 24 15 38.46 46 0 0.00 KIF13A 63971 genome.wustl.edu 37 6 17850652 17850652 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 17850652 17850652 G C SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.619 p.R207G 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 15 6 28.57 33 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 28932813 28932813 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 28932813 28932813 C T SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known silent c.4506 p.V1502 0.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 21 20 48.78 32 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 28988056 28988056 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 28988056 28988056 G A SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known silent c.3069 p.L1023 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 15 19 55.88 41 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 28988140 28988140 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 28988140 28988140 G C SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.2985 p.I995M 0.994 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 23 14 37.84 50 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 28988170 28988170 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 28988170 28988170 C T SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known silent c.2955 p.V985 0.989 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 22 9 29.03 24 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 28997699 28997699 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 28997699 28997699 G A SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.2494 p.R832W 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 44 17 27.87 33 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 29023247 29023247 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 29023247 29023247 C G SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.1201 p.E401Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 45 13 22.03 33 0 0.00 KIF13B 23303 genome.wustl.edu 37 8 29025072 29025072 + Missense_Mutation SNP T T G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 29025072 29025072 T G SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.976 p.M326L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 25 17 40.48 61 0 0.00 KIF14 9928 genome.wustl.edu 37 1 200522698 200522698 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 200522698 200522698 C G SNP KIF14 ENST00000367350 human ensembl 70_37 -1 known missense c.4765 p.D1589H 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 30 8 21.05 40 0 0.00 KIF14 9928 genome.wustl.edu 37 1 200528488 200528488 + Silent SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 200528488 200528488 A G SNP KIF14 ENST00000367350 human ensembl 70_37 -1 known silent c.4323 p.H1441 0.001 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 32 4 11.11 17 0 0.00 KIF15 56992 genome.wustl.edu 37 3 44826351 44826351 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 44826351 44826351 G C SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.376 p.D126H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 33 6 15.38 67 0 0.00 KIF15 56992 genome.wustl.edu 37 3 44893412 44893412 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 44893412 44893412 G A SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.3940 p.E1314K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 17 10 37.04 20 0 0.00 KIF15 56992 genome.wustl.edu 37 3 44893430 44893430 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 44893430 44893430 G C SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.3958 p.E1320Q 0.987 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 13 11 45.83 22 0 0.00 KIF16B 55614 genome.wustl.edu 37 20 16354918 16354918 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 16354918 16354918 G A SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known missense c.3334 p.P1112S 0.264 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 101 19 15.83 159 0 0.00 KIF16B 55614 genome.wustl.edu 37 20 16360067 16360067 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 16360067 16360067 G A SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known silent c.2580 p.I860 0.106 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 144 34 19.10 91 0 0.00 KIF16B 55614 genome.wustl.edu 37 20 16485148 16485148 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 16485148 16485148 G C SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known missense c.1045 p.L349V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 182 33 15.28 260 0 0.00 KIF16B 55614 genome.wustl.edu 37 20 16486496 16486496 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 20 16486496 16486496 C T SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known missense c.871 p.D291N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 20 18 47.37 53 0 0.00 KIF17 57576 genome.wustl.edu 37 1 20998569 20998569 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 20998569 20998569 C A SNP KIF17 ENST00000247986 human ensembl 70_37 -1 known nonsense c.2584 p.E862* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 74 24 24.49 68 0 0.00 KIF18A 81930 genome.wustl.edu 37 11 28056945 28056945 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 28056945 28056945 C T SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known silent c.2493 p.R831 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 28 23 45.10 72 0 0.00 KIF18A 81930 genome.wustl.edu 37 11 28104435 28104435 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 28104435 28104435 C T SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.1230 p.M410I 0.023 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 21 16 43.24 34 0 0.00 KIF18A 81930 genome.wustl.edu 37 11 28112241 28112241 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 28112241 28112241 C G SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.622 p.D208H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 18 12 40.00 38 0 0.00 KIF18A 81930 genome.wustl.edu 37 11 28112262 28112262 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 28112262 28112262 C G SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 16 12 42.86 29 0 0.00 KIF18B 146909 genome.wustl.edu 37 17 43006267 43006268 + Frame_Shift_Ins INS - - T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 43006267 43006268 - T INS KIF18B ENST00000339151 human ensembl 70_37 -1 known frame_shift_ins c.1679_1678 p.I560fs 0.000:0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 39 6 13.33 40 0 0.00 KIF19 124602 genome.wustl.edu 37 17 72338795 72338795 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72338795 72338795 G C SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known missense c.258 p.K86N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 38 9 19.15 36 0 0.00 KIF19 124602 genome.wustl.edu 37 17 72350453 72350453 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 72350453 72350453 G A SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known missense c.2461 p.A821T 0.007 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 13 10 43.48 21 0 0.00 KIF19 124602 genome.wustl.edu 37 17 72350665 72350665 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 72350665 72350665 G T SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known silent c.2673 p.R891 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 28 19 40.43 35 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241660385 241660385 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 241660385 241660385 G C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4814 p.P1605R 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 15 52 77.61 66 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241663449 241663449 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 241663449 241663449 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4261 p.R1421C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 14 7 33.33 35 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241664739 241664739 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 241664739 241664739 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4205 p.S1402L 0.975 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 70 31 30.39 119 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241664796 241664796 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 241664796 241664796 A C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4148 p.V1383G 0.998 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 27 18 40.00 58 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241685531 241685531 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 241685531 241685531 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.3127 p.R1043C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 59 9 13.24 99 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241689949 241689949 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 241689949 241689949 C G SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known silent c.2874 p.L958 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 38 11 22.45 54 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241696839 241696839 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 241696839 241696839 C T SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.2755 p.E919K 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 12 12 50.00 36 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241696841 241696843 + In_Frame_Del DEL TCC TCC - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 2 241696841 241696843 TCC - DEL KIF1A ENST00000498729 human ensembl 70_37 -1 known in_frame_del c.2753_2751 p.E917in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 13 3 18.75 28 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241696871 241696871 + Missense_Mutation SNP T T C TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 2 241696871 241696871 T C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.2723 p.E908G 0.989 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 26 4 13.33 37 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241697000 241697000 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 241697000 241697000 G C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.2594 p.S865C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 12 20 62.50 51 0 0.00 KIF1A 547 genome.wustl.edu 37 2 241700168 241700168 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 241700168 241700168 C T SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known silent c.2358 p.T786 0.776 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 26 24 48.00 49 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10327452 10327452 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 10327452 10327452 A C SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.444 p.E148D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 29 7 19.44 61 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10327472 10327472 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 10327472 10327472 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.464 p.R155Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 30 13 30.23 55 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10328298 10328298 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 10328298 10328298 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.697 p.E233K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 36 8 18.18 36 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10363419 10363419 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10363419 10363419 G C SNP KIF1B ENST00000377083 human ensembl 70_37 +1 known missense c.2176 p.D726H 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 10 8 44.44 18 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10363823 10363823 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 10363823 10363823 G A SNP KIF1B ENST00000377083 human ensembl 70_37 +1 known silent c.2580 p.L860 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 34 18 34.62 35 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10384847 10384847 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 10384847 10384847 G C SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.2431 p.D811H 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 46 17 26.98 76 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10384953 10384953 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 10384953 10384953 G T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.2537 p.S846I 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 49 27 35.53 68 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10399865 10399865 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 10399865 10399865 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.3323 p.P1108L 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 28 17 37.78 40 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10421080 10421080 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 10421080 10421080 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.4011 p.M1337I 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 60 10 14.29 82 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10425556 10425556 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10425556 10425556 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known silent c.4464 p.L1488 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 37 26 41.27 64 0 0.00 KIF1B 23095 genome.wustl.edu 37 1 10425657 10425657 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10425657 10425657 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.4565 p.S1522L 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 34 29 46.03 78 0 0.00 KIF1C 10749 genome.wustl.edu 37 17 4904074 4904074 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4904074 4904074 C G SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.114 p.I38M 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 52 38 42.22 80 0 0.00 KIF1C 10749 genome.wustl.edu 37 17 4916990 4916990 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4916990 4916990 G C SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.1534 p.E512Q 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 44 31 41.33 54 0 0.00 KIF1C 10749 genome.wustl.edu 37 17 4925560 4925560 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4925560 4925560 C T SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known silent c.2184 p.I728 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 38 22 36.67 58 0 0.00 KIF1C 10749 genome.wustl.edu 37 17 4925710 4925710 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4925710 4925710 G C SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.2334 p.K778N 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 36 10 21.74 31 0 0.00 KIF1C 10749 genome.wustl.edu 37 17 4925967 4925967 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 4925967 4925967 G A SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.2591 p.R864H 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 36 12 24.49 46 0 0.00 KIF20A 10112 genome.wustl.edu 37 5 137518570 137518570 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137518570 137518570 G A SNP KIF20A ENST00000394894 human ensembl 70_37 +1 known silent c.723 p.L241 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 11 4 26.67 22 0 0.00 KIF20A 10112 genome.wustl.edu 37 5 137520288 137520288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137520288 137520288 G C SNP KIF20A ENST00000394894 human ensembl 70_37 +1 known missense c.1606 p.E536Q 0.659 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 32 24 42.86 46 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91469150 91469150 + Nonsense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 10 91469150 91469150 C T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known nonsense c.283 p.Q95* 0.852 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 37 15 28.30 163 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91479209 91479209 + Nonsense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 91479209 91479209 G T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known nonsense c.1468 p.E490* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 36 4 10.00 71 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91497810 91497810 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 91497810 91497810 C T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.3302 p.S1101F 0.996 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 71 10 12.35 52 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91497950 91497950 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 91497950 91497950 G C SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.3442 p.E1148Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 64 33 34.02 47 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91503597 91503597 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 91503597 91503597 G A SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known silent c.4038 p.L1346 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 40 17 29.82 55 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91528105 91528105 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 91528105 91528105 C G SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5138 p.P1713R 0.337 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 15 16 51.61 35 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91532517 91532517 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 91532517 91532517 C G SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5404 p.Q1802E 0.054 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 22 26 54.17 36 0 0.00 KIF20B 9585 genome.wustl.edu 37 10 91533786 91533786 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 91533786 91533786 G A SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5534 p.R1845Q 0.851 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 76 43 35.83 115 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39716488 39716488 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 39716488 39716488 G T SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3653 p.P1218H 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 14 3 17.65 37 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39716558 39716558 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 39716558 39716558 T A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3583 p.I1195F 0.904 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 16 8 33.33 13 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39716559 39716559 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 39716559 39716559 C G SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3582 p.E1194D 0.910 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 17 8 32.00 13 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39730978 39730978 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 39730978 39730978 C T SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.2338 p.E780K 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 17 19 52.78 47 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39760894 39760894 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 39760894 39760894 G A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.673 p.R225C 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 76 23 23.23 91 0 0.00 KIF21A 55605 genome.wustl.edu 37 12 39763563 39763563 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 39763563 39763563 G A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.418 p.P140S 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 51 8 13.56 28 0 0.00 KIF21B 23046 genome.wustl.edu 37 1 200942677 200942677 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 200942677 200942677 C T SNP KIF21B ENST00000461742 human ensembl 70_37 -1 putative missense c.4844 p.R1615Q 0.996 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 78 45 36.59 63 0 0.00 KIF21B 23046 genome.wustl.edu 37 1 200974481 200974481 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 200974481 200974481 G A SNP KIF21B ENST00000422435 human ensembl 70_37 -1 known silent c.687 p.F229 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 35 18 33.96 35 0 0.00 KIF21B 23046 genome.wustl.edu 37 1 200977902 200977902 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 200977902 200977902 G A SNP KIF21B ENST00000422435 human ensembl 70_37 -1 known silent c.442 p.L148 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 33 12 26.67 54 0 0.00 KIF22 3835 genome.wustl.edu 37 16 29802097 29802097 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29802097 29802097 C T SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.17 p.S6L 0.000 NULL pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 13 5 27.78 11 0 0.00 KIF22 3835 genome.wustl.edu 37 16 29811297 29811297 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 29811297 29811297 G A SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.1208 p.R403Q 0.540 NULL pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 9 7 43.75 28 0 0.00 KIF22 3835 genome.wustl.edu 37 16 29816249 29816249 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29816249 29816249 G C SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.1792 p.E598Q 0.022 superfamily_RuvA_2-like pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 25 4 13.79 15 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69714019 69714019 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 69714019 69714019 C T SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.244 p.H82Y 0.381 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 73 11 13.10 54 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69715581 69715581 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 69715581 69715581 A G SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.647 p.Y216C 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 11 4 26.67 40 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69715618 69715618 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 69715618 69715618 T G SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.684 p.N228K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 10 3 23.08 30 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69718494 69718494 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 69718494 69718494 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.820 p.E274K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 58 15 20.55 37 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69728997 69728997 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 69728997 69728997 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known silent c.1491 p.L497 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 38 13 25.49 46 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69730693 69730693 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 69730693 69730693 G C SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.1662 p.Q554H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 33 4 10.81 33 0 0.00 KIF23 9493 genome.wustl.edu 37 15 69732248 69732248 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 69732248 69732248 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known silent c.1719 p.E573 0.999 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 43 23 34.85 60 0 0.00 KIF24 347240 genome.wustl.edu 37 9 34256848 34256848 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34256848 34256848 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.2757 p.W919C 1.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 21 13 38.24 33 0 0.00 KIF24 347240 genome.wustl.edu 37 9 34257704 34257704 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 34257704 34257704 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1901 p.R634T 0.852 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 53 9 14.52 48 0 0.00 KIF24 347240 genome.wustl.edu 37 9 34257873 34257873 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 34257873 34257873 A G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known silent c.1732 p.L578 0.420 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 16 6 27.27 36 0 0.00 KIF24 347240 genome.wustl.edu 37 9 34263154 34263154 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 34263154 34263154 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1460 p.R487P 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 71 70 49.65 108 0 0.00 KIF24 347240 genome.wustl.edu 37 9 34286656 34286656 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 34286656 34286656 G T SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1174 p.L392M 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 30 4 11.76 40 0 0.00 KIF25 3834 genome.wustl.edu 37 6 168418689 168418689 + RNA SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 168418689 168418689 C A SNP KIF25 ENST00000515361 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors KIF25 HGNC ENSG00000125337 36 4 10.00 32 0 0.00 KIF25 3834 genome.wustl.edu 37 6 168443353 168443353 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 168443353 168443353 G A SNP KIF25 ENST00000354419 human ensembl 70_37 +1 known silent c.942 p.P314 0.157 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 49 51 51.00 146 0 0.00 KIF25-AS1 100505879 genome.wustl.edu 37 6 168396547 168396547 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168396547 168396547 C T SNP KIF25-AS1 ENST00000414364 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KIF25-AS1 HGNC ENSG00000229921 35 30 46.15 49 0 0.00 KIF25-AS1 100505879 genome.wustl.edu 37 6 168396931 168396931 + RNA SNP A A T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 168396931 168396931 A T SNP KIF25-AS1 ENST00000414364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIF25-AS1 HGNC ENSG00000229921 92 49 34.51 47 0 0.00 KIF26A 26153 genome.wustl.edu 37 14 104639437 104639437 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 104639437 104639437 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.1544 p.S515F 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 12 3 20.00 13 0 0.00 KIF26A 26153 genome.wustl.edu 37 14 104641518 104641518 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 104641518 104641518 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2393 p.A798V 0.780 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 55 27 32.93 111 0 0.00 KIF26A 26153 genome.wustl.edu 37 14 104641549 104641549 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 104641549 104641549 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known silent c.2424 p.N808 0.794 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 41 21 33.87 38 0 0.00 KIF26A 26153 genome.wustl.edu 37 14 104641721 104641721 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 104641721 104641721 G A SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2596 p.G866R 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 39 45 53.57 82 0 0.00 KIF26A 26153 genome.wustl.edu 37 14 104641823 104641823 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 104641823 104641823 C G SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2698 p.R900G 0.062 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 59 29 32.95 99 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245530223 245530223 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 245530223 245530223 G C SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.553 p.D185H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 29 8 21.62 49 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245765894 245765894 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 245765894 245765894 C T SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.1366 p.R456C 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 27 4 12.90 33 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245766083 245766083 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 245766083 245766083 C T SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known nonsense c.1555 p.Q519* 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 28 7 20.00 42 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245772752 245772752 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 245772752 245772752 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known silent c.1836 p.S612 0.005 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 59 21 26.25 128 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245772793 245772793 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 245772793 245772793 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.1877 p.G626D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 81 40 33.06 66 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245847666 245847666 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 245847666 245847666 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.2390 p.R797K 0.765 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 23 9 28.12 45 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245848929 245848929 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 245848929 245848929 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.2644 p.D882N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 19 21 52.50 40 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245850144 245850144 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 245850144 245850144 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.3859 p.A1287T 0.612 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 34 8 19.05 31 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245850330 245850330 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 245850330 245850330 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.4045 p.D1349N 0.256 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 10 10 50.00 14 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245850611 245850611 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 245850611 245850611 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known silent c.4326 p.L1442 0.123 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 33 11 24.44 73 0 0.00 KIF26B 55083 genome.wustl.edu 37 1 245851198 245851198 + Missense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 245851198 245851198 C A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.4913 p.P1638Q 0.828 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 6 5 45.45 8 0 0.00 KIF27 55582 genome.wustl.edu 37 9 86498737 86498737 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86498737 86498737 C G SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known silent c.2436 p.L812 0.923 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 78 13 14.29 69 0 0.00 KIF27 55582 genome.wustl.edu 37 9 86498868 86498868 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86498868 86498868 C G SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 63 19 23.17 68 0 0.00 KIF27 55582 genome.wustl.edu 37 9 86506263 86506263 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 9 86506263 86506263 C T SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known missense c.1756 p.D586N 0.977 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 45 32 41.56 103 0 0.00 KIF27 55582 genome.wustl.edu 37 9 86530456 86530456 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 86530456 86530456 G A SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known silent c.51 p.C17 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 118 22 15.71 118 0 0.00 KIF2A 3796 genome.wustl.edu 37 5 61643892 61643892 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 61643892 61643892 C G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.177 p.I59M 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 53 13 19.70 80 0 0.00 KIF2A 3796 genome.wustl.edu 37 5 61668279 61668279 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 61668279 61668279 G T SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.1661 p.G554V 1.000 smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 35 4 10.26 36 0 0.00 KIF2A 3796 genome.wustl.edu 37 5 61668359 61668359 + Missense_Mutation SNP T T G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 61668359 61668359 T G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.1741 p.F581V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 23 7 23.33 17 0 0.00 KIF2B 84643 genome.wustl.edu 37 17 51900705 51900705 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 51900705 51900705 C T SNP KIF2B ENST00000268919 human ensembl 70_37 +1 known missense c.311 p.S104L 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 13 5 27.78 18 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45213065 45213065 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 45213065 45213065 G C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known missense c.175 p.D59H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 65 13 16.67 60 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45216175 45216175 + Silent SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 45216175 45216175 G A SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known silent c.378 p.E126 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 36 10 21.74 45 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45218872 45218872 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 45218872 45218872 G C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known missense c.508 p.E170Q 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 71 24 25.26 81 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45223226 45223226 + Splice_Site SNP A A C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 45223226 45223226 A C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known splice_site c.978-2 e11-2 1.000 - - - no_errors KIF2C HGNC ENSG00000142945 64 29 31.18 68 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45228219 45228219 + Missense_Mutation SNP A A T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 45228219 45228219 A T SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known missense c.1860 p.L620F 0.896 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 68 25 26.88 103 0 0.00 KIF2C 11004 genome.wustl.edu 37 1 45232560 45232560 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45232560 45232560 C G SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known silent c.2034 p.T678 0.984 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 45 11 19.64 54 0 0.00 KIF3A 11127 genome.wustl.edu 37 5 132036232 132036232 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 132036232 132036232 C T SNP KIF3A ENST00000487055 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors KIF3A HGNC ENSG00000131437 28 5 15.15 40 0 0.00 KIF3A 11127 genome.wustl.edu 37 5 132044647 132044647 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132044647 132044647 C T SNP KIF3A ENST00000403231 human ensembl 70_37 -1 novel missense c.1252 p.D418N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 18 8 30.77 16 0 0.00 KIF3B 9371 genome.wustl.edu 37 20 30898424 30898424 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 20 30898424 30898424 C G SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.844 p.L282V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 65 57 46.72 106 1 0.93 KIF3B 9371 genome.wustl.edu 37 20 30898811 30898811 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 30898811 30898811 G T SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.1231 p.D411Y 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 22 13 37.14 24 0 0.00 KIF3B 9371 genome.wustl.edu 37 20 30898823 30898823 + Silent SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 30898823 30898823 C A SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known silent c.1243 p.R415 0.992 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 54 25 31.65 56 0 0.00 KIF3B 9371 genome.wustl.edu 37 20 30904625 30904625 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 20 30904625 30904625 C T SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.1696 p.R566C 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 15 4 21.05 11 0 0.00 KIF3B 9371 genome.wustl.edu 37 20 30915357 30915357 + Splice_Site SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 30915357 30915357 A G SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known splice_site c.1863-2 e6-2 1.000 - - - no_errors KIF3B HGNC ENSG00000101350 14 10 41.67 12 0 0.00 KIF3B 9371 genome.wustl.edu 37 20 30918001 30918001 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 30918001 30918001 G A SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.2026 p.E676K 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 39 10 20.00 55 0 0.00 KIF3C 3797 genome.wustl.edu 37 2 26152236 26152236 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 26152236 26152236 G A SNP KIF3C ENST00000264712 human ensembl 70_37 -1 known silent c.2226 p.L742 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 29 15 34.09 32 0 0.00 KIF3C 3797 genome.wustl.edu 37 2 26178494 26178494 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26178494 26178494 G A SNP KIF3C ENST00000264712 human ensembl 70_37 -1 known silent c.1686 p.L562 0.972 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 40 7 14.89 37 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69516913 69516913 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 69516913 69516913 G A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.301 p.A101T 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 63 14 18.18 79 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69521874 69521874 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 69521874 69521874 C A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.641 p.A214D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 32 4 11.11 40 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69561767 69561767 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 69561767 69561767 G C SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 65 29 30.53 69 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69594046 69594046 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 69594046 69594046 G C SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.1720 p.E574Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 54 8 12.70 50 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69595079 69595079 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69595079 69595079 C A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.1804 p.L602I 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 22 21 48.84 51 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69615617 69615617 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 69615617 69615617 G T SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.2329 p.D777Y 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 44 52 54.17 50 0 0.00 KIF4A 24137 genome.wustl.edu 37 X 69625690 69625690 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 69625690 69625690 G C SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.2911 p.E971Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 2 17 89.47 28 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154393426 154393426 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 154393426 154393426 G A SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 84 10 10.42 107 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154393825 154393825 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 154393825 154393825 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.406 p.L136 0.362 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 57 14 19.72 95 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154394755 154394755 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 154394755 154394755 G T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.1336 p.D446Y 0.999 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 68 12 15.00 58 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154395747 154395747 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154395747 154395747 G T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.2328 p.Q776H 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 28 24 46.15 60 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154395762 154395762 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154395762 154395762 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.2343 p.L781 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 59 28 32.18 73 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154396407 154396407 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 154396407 154396407 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.2988 p.L996 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 20 9 31.03 63 0 0.00 KIF4B 285643 genome.wustl.edu 37 5 154397090 154397090 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 154397090 154397090 C G SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.3671 p.S1224C 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 24 19 44.19 33 0 0.00 KIF5A 3798 genome.wustl.edu 37 12 57944127 57944127 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 57944127 57944127 C T SNP KIF5A ENST00000455537 human ensembl 70_37 +1 known silent c.73 p.L25 0.985 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 32 15 31.25 42 0 0.00 KIF5A 3798 genome.wustl.edu 37 12 57975210 57975210 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 57975210 57975210 G A SNP KIF5A ENST00000455537 human ensembl 70_37 +1 known missense c.2768 p.R923Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 61 8 11.59 93 0 0.00 KIF5B 3799 genome.wustl.edu 37 10 32307041 32307041 + Frame_Shift_Del DEL T T - TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 32307041 32307041 T - DEL KIF5B ENST00000302418 human ensembl 70_37 -1 known frame_shift_del c.2483 p.Q828fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 93 13 12.26 86 0 0.00 KIF5B 3799 genome.wustl.edu 37 10 32308830 32308830 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 32308830 32308830 C G SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known missense c.2262 p.L754F 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 43 13 23.21 33 0 0.00 KIF5B 3799 genome.wustl.edu 37 10 32311953 32311953 + Silent SNP T T A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 10 32311953 32311953 T A SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known silent c.1737 p.G579 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 20 15 42.86 68 0 0.00 KIF5B 3799 genome.wustl.edu 37 10 32326243 32326243 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 32326243 32326243 G C SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known missense c.650 p.T217R 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 41 18 30.51 51 0 0.00 KIF5B 3799 genome.wustl.edu 37 10 32337443 32337443 + Missense_Mutation SNP T T G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 32337443 32337443 T G SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known missense c.163 p.S55R 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 14 9 39.13 12 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149829850 149829850 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 149829850 149829850 G T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1118 p.G373V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 56 24 30.00 60 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149837962 149837962 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149837962 149837962 G C SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1456 p.E486Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 23 10 29.41 43 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149838030 149838030 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149838030 149838030 G T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1524 p.K508N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 28 10 26.32 29 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149838051 149838051 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149838051 149838051 G A SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known silent c.1545 p.L515 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 26 11 29.73 28 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149854923 149854923 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 149854923 149854923 G C SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.2110 p.E704Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 100 12 10.71 67 0 0.00 KIF5C 3800 genome.wustl.edu 37 2 149866723 149866723 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 149866723 149866723 C T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known silent c.2625 p.R875 0.117 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 18 4 18.18 42 0 0.00 KIF6 221458 genome.wustl.edu 37 6 39398872 39398872 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 39398872 39398872 C T SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.1711 p.D571N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 40 23 36.51 48 0 0.00 KIF6 221458 genome.wustl.edu 37 6 39512397 39512397 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 39512397 39512397 C G SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.1360 p.E454Q 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 66 22 25.00 144 0 0.00 KIF6 221458 genome.wustl.edu 37 6 39563909 39563909 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39563909 39563909 C T SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.767 p.R256Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 58 11 15.94 44 0 0.00 KIF6 221458 genome.wustl.edu 37 6 39581039 39581039 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 39581039 39581039 G C SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.565 p.L189V 0.957 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 13 7 35.00 39 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90152031 90152031 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 90152031 90152031 C T SNP KIF7 ENST00000558928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KIF7 HGNC ENSG00000166813 11 10 47.62 31 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90171693 90171693 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 90171693 90171693 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3989 p.R1330P 0.683 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 29 8 21.62 32 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90171693 90171693 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 90171693 90171693 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3989 p.R1330P 0.683 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 47 26 35.62 101 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90171708 90171708 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 90171708 90171708 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3974 p.R1325Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 32 9 21.43 44 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90173618 90173618 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90173618 90173618 G A SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3218 p.S1073L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 14 16 53.33 37 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90189155 90189155 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 90189155 90189155 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 17 9 34.62 52 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90189187 90189187 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 90189187 90189187 G A SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1859 p.S620L 0.949 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 17 13 43.33 47 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90190075 90190075 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 90190075 90190075 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1774 p.E592Q 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 94 39 29.32 143 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90190196 90190196 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90190196 90190196 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known silent c.1653 p.L551 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 77 73 48.67 52 0 0.00 KIF7 374654 genome.wustl.edu 37 15 90192361 90192361 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90192361 90192361 G C SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known nonsense c.767 p.S256* 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 25 8 24.24 9 0 0.00 KIF9 64147 genome.wustl.edu 37 3 47277039 47277039 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47277039 47277039 G A SNP KIF9 ENST00000265529 human ensembl 70_37 -1 known silent c.2286 p.I762 0.585 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 36 11 23.40 52 0 0.00 KIF9 64147 genome.wustl.edu 37 3 47281406 47281406 + Splice_Site SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47281406 47281406 C T SNP KIF9 ENST00000487440 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.004 - - - no_errors KIF9 HGNC ENSG00000088727 77 9 10.47 73 0 0.00 KIFAP3 22920 genome.wustl.edu 37 1 169951900 169951900 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169951900 169951900 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.1615 p.E539K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 12 5 29.41 41 0 0.00 KIFAP3 22920 genome.wustl.edu 37 1 169993693 169993693 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169993693 169993693 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.886 p.E296K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 15 8 34.78 50 0 0.00 KIFAP3 22920 genome.wustl.edu 37 1 170001044 170001044 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 170001044 170001044 T C SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.824 p.Q275R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 6 41 87.23 41 0 0.00 KIFAP3 22920 genome.wustl.edu 37 1 170001164 170001165 + RNA INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 170001164 170001165 - A INS KIFAP3 ENST00000474292 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.049 - - - no_errors KIFAP3 HGNC ENSG00000075945 26 8 23.53 30 0 0.00 KIFAP3 22920 genome.wustl.edu 37 1 170024468 170024468 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 170024468 170024468 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.142 p.E48K 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 54 10 15.62 58 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33365938 33365938 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 33365938 33365938 G C SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.909 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 43 18 29.51 39 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33366154 33366154 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 33366154 33366154 C T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known silent c.240 p.G80 0.209 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 41 5 10.87 46 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33368141 33368141 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33368141 33368141 C T SNP KIFC1 ENST00000486695 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIFC1 HGNC ENSG00000237649 31 23 42.59 63 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33368154 33368154 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33368154 33368154 C T SNP KIFC1 ENST00000486695 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIFC1 HGNC ENSG00000237649 30 20 40.00 59 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33371529 33371529 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371529 33371529 G T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known nonsense c.379 p.G127* 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 42 27 39.13 25 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33371529 33371529 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371529 33371529 G T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known nonsense c.379 p.G127* 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 43 25 36.76 47 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33371530 33371530 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371530 33371530 G A SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.380 p.G127E 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 42 27 39.13 25 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33371530 33371530 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371530 33371530 G A SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.380 p.G127E 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 44 25 36.23 48 0 0.00 KIFC1 3833 genome.wustl.edu 37 6 33373178 33373178 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 33373178 33373178 C T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.1306 p.R436W 0.974 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 32 4 11.11 33 0 0.00 KIFC2 90990 genome.wustl.edu 37 8 145694209 145694209 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 8 145694209 145694209 C T SNP KIFC2 ENST00000301332 human ensembl 70_37 +1 known missense c.1105 p.R369W 0.930 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 35 7 16.67 88 0 0.00 KIFC2 90990 genome.wustl.edu 37 8 145698053 145698053 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 145698053 145698053 C T SNP KIFC2 ENST00000301332 human ensembl 70_37 +1 known missense c.1825 p.R609C 0.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 16 9 36.00 24 0 0.00 KIFC3 3801 genome.wustl.edu 37 16 57795349 57795349 + Silent SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 57795349 57795349 C A SNP KIFC3 ENST00000379655 human ensembl 70_37 -1 known silent c.1848 p.V616 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 30 4 11.76 73 0 0.00 KIFC3 3801 genome.wustl.edu 37 16 57806156 57806156 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57806156 57806156 C G SNP KIFC3 ENST00000379655 human ensembl 70_37 -1 known silent c.360 p.V120 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 32 19 36.54 42 0 0.00 KIFC3 3801 genome.wustl.edu 37 16 57819413 57819413 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 57819413 57819413 C T SNP KIFC3 ENST00000539578 human ensembl 70_37 -1 known missense c.104 p.S35N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 27 4 12.90 56 0 0.00 KIFC3 3801 genome.wustl.edu 37 16 57831720 57831720 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 57831720 57831720 G A SNP KIFC3 ENST00000566975 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIFC3 HGNC ENSG00000140859 6 13 68.42 35 0 0.00 KIN 22944 genome.wustl.edu 37 10 7797903 7797904 + RNA INS - - AACT TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 7797903 7797904 - AACT INS KIN ENST00000463666 human ensembl 70_37 -1 known rna NULL NULL 0.042:0.040 - - - no_errors KIN HGNC ENSG00000151657 22 8 26.67 47 0 0.00 KIN 22944 genome.wustl.edu 37 10 7798011 7798011 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 7798011 7798011 G T SNP KIN ENST00000463666 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIN HGNC ENSG00000151657 38 8 17.39 89 0 0.00 KIN 22944 genome.wustl.edu 37 10 7805709 7805709 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 7805709 7805709 G A SNP KIN ENST00000379562 human ensembl 70_37 -1 known missense c.895 p.H299Y 1.000 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 37 6 13.95 74 0 0.00 KIR2DL1 3802 genome.wustl.edu 37 19 55284906 55284906 + Silent SNP G G C TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 19 55284906 55284906 G C SNP KIR2DL1 ENST00000336077 human ensembl 70_37 +1 known silent c.192 p.G64 0.003 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 63 72 53.33 128 0 0.00 KIR2DL1 3802 genome.wustl.edu 37 19 55284986 55284986 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 55284986 55284986 C T SNP KIR2DL1 ENST00000336077 human ensembl 70_37 +1 known missense c.272 p.T91M 0.005 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 161 27 14.36 109 0 0.00 KIR2DL1 3802 genome.wustl.edu 37 19 55294399 55294399 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 55294399 55294399 G A SNP KIR2DL1 ENST00000336077 human ensembl 70_37 +1 known silent c.741 p.L247 0.050 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 53 14 20.90 24 0 0.00 KIR2DL3 3804 genome.wustl.edu 37 19 55263147 55263147 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 55263147 55263147 C T SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known silent c.762 p.I254 0.008 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 410 76 15.64 320 0 0.00 KIR2DL3 3804 genome.wustl.edu 37 19 55263156 55263156 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 55263156 55263156 C T SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known silent c.771 p.F257 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 126 22 14.86 175 0 0.00 KIR2DL3 3804 genome.wustl.edu 37 19 55263963 55263963 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55263963 55263963 G C SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known missense c.1018 p.E340Q 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 45 26 36.62 73 0 0.00 KIR3DL1 3811 genome.wustl.edu 37 19 55329005 55329005 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 55329005 55329005 G A SNP KIR3DL1 ENST00000402254 human ensembl 70_37 +1 known silent c.51 p.Q17 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 11 18 62.07 31 0 0.00 KIR3DL1 3811 genome.wustl.edu 37 19 55331284 55331284 + Missense_Mutation SNP G G C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 55331284 55331284 G C SNP KIR3DL1 ENST00000402254 human ensembl 70_37 +1 known missense c.472 p.E158Q 0.009 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 303 68 18.23 391 0 0.00 KIR3DL1 3811 genome.wustl.edu 37 19 55333103 55333103 + Silent SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 55333103 55333103 C A SNP KIR3DL1 ENST00000402254 human ensembl 70_37 +1 known silent c.739 p.R247 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 12 9 42.86 14 0 0.00 KIR3DL2 3812 genome.wustl.edu 37 19 55378121 55378121 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 55378121 55378121 G A SNP KIR3DL2 ENST00000326321 human ensembl 70_37 +1 known missense c.1303 p.E435K 0.013 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 34 38 52.78 60 0 0.00 KIR3DL3 115653 genome.wustl.edu 37 19 55239168 55239168 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 55239168 55239168 G T SNP KIR3DL3 ENST00000291860 human ensembl 70_37 +1 known missense c.447 p.R149S 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2 - no_errors KIR3DL3 HGNC ENSG00000242019 32 9 21.95 45 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 11161 11161 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a GL000209.1 11161 11161 C T SNP KIR3DS1 ENST00000400875 human ensembl 70_37 +1 known missense c.527 p.S176F NULL smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2 - no_errors KIR3DS1 HGNC ENSG00000215764 8 60 88.24 64 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27253 27253 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27253 27253 G C SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known silent c.456 p.R152 NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 92 29 23.97 94 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27299 27299 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27299 27299 G A SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known missense c.502 p.E168K NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 107 45 29.61 126 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27433 27433 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27433 27433 G A SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known silent c.636 p.S212 NULL smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 56 24 30.00 75 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 58495 58495 + Missense_Mutation SNP C C A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 GL000209.1 58495 58495 C A SNP KIR3DS1 ENST00000400851 human ensembl 70_37 +1 known missense c.176 p.T59K NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 55 10 15.38 47 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 66852 66852 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b GL000209.1 66852 66852 G C SNP KIR3DS1 ENST00000400851 human ensembl 70_37 +1 known missense c.822 p.Q274H NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 19 19 50.00 36 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 71157 71157 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 GL000209.1 71157 71157 G A SNP KIR3DS1 ENST00000400847 human ensembl 70_37 +1 known silent c.51 p.Q17 NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 66 29 30.53 81 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 84092 84092 + Nonstop_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc GL000209.1 84092 84092 G C SNP KIR3DS1 ENST00000400847 human ensembl 70_37 +1 known nonstop c.1163 p.*388S NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 213 43 16.80 216 0 0.00 KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 95712 95712 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd GL000209.1 95712 95712 T C SNP KIR3DS1 ENST00000391731 human ensembl 70_37 +1 known silent c.1098 p.A366 NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC ENSG00000215764 18 12 40.00 27 0 0.00 KIR3DX1 90011 genome.wustl.edu 37 19 55046737 55046737 + RNA SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 55046737 55046737 T A SNP KIR3DX1 ENST00000482404 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors KIR3DX1 HGNC ENSG00000104970 33 6 15.38 45 0 0.00 KIR3DX1 90011 genome.wustl.edu 37 19 55053855 55053855 + Splice_Site SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 55053855 55053855 G A SNP KIR3DX1 ENST00000221567 human ensembl 70_37 +1 known splice_site c.1059+1 e7+1 0.066 - - - no_errors KIR3DX1 HGNC ENSG00000104970 21 6 22.22 42 0 0.00 KIRREL 55243 genome.wustl.edu 37 1 158047909 158047909 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 158047909 158047909 C T SNP KIRREL ENST00000368173 human ensembl 70_37 +1 known missense c.331 p.R111W 0.974 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC ENSG00000183853 26 17 39.53 45 0 0.00 KIRREL 55243 genome.wustl.edu 37 1 158063415 158063415 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158063415 158063415 C T SNP KIRREL ENST00000368173 human ensembl 70_37 +1 known missense c.1630 p.R544C 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC ENSG00000183853 67 12 15.19 58 0 0.00 KIRREL2 84063 genome.wustl.edu 37 19 36348063 36348063 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 36348063 36348063 C T SNP KIRREL2 ENST00000360202 human ensembl 70_37 +1 known silent c.42 p.F14 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 21 9 30.00 38 0 0.00 KIRREL2 84063 genome.wustl.edu 37 19 36357423 36357423 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 36357423 36357423 C T SNP KIRREL2 ENST00000262625 human ensembl 70_37 +1 known silent c.1887 p.I629 0.011 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 19 7 26.92 23 0 0.00 KIRREL3 84623 genome.wustl.edu 37 11 126316661 126316661 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 126316661 126316661 G C SNP KIRREL3 ENST00000525144 human ensembl 70_37 -1 known missense c.1118 p.S373C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL3 HGNC ENSG00000149571 30 20 40.00 55 0 0.00 KIRREL3-AS3 283165 genome.wustl.edu 37 11 126873015 126873016 + RNA INS - - A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 126873015 126873016 - A INS KIRREL3-AS3 ENST00000525678 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.021 - - - no_errors KIRREL3-AS3 HGNC ENSG00000218109 25 3 10.71 33 0 0.00 KIT 3815 genome.wustl.edu 37 4 55594198 55594198 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 4 55594198 55594198 G A SNP KIT ENST00000288135 human ensembl 70_37 +1 known missense c.1901 p.R634Q 0.223 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 43 10 18.87 56 0 0.00 KIT 3815 genome.wustl.edu 37 4 55595645 55595645 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 55595645 55595645 C T SNP KIT ENST00000288135 human ensembl 70_37 +1 known missense c.2135 p.S712F 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 17 6 26.09 37 0 0.00 KIT 3815 genome.wustl.edu 37 4 55603353 55603353 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 55603353 55603353 G A SNP KIT ENST00000288135 human ensembl 70_37 +1 known missense c.2709 p.M903I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 16 12 42.86 41 0 0.00 KITLG 4254 genome.wustl.edu 37 12 88910219 88910219 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 88910219 88910219 C T SNP KITLG ENST00000228280 human ensembl 70_37 -1 known missense c.412 p.E138K 1.000 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 13 13 50.00 29 0 0.00 KL 9365 genome.wustl.edu 37 13 33628404 33628404 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 33628404 33628404 A C SNP KL ENST00000380099 human ensembl 70_37 +1 known missense c.1320 p.E440D 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 17 11 39.29 52 0 0.00 KL 9365 genome.wustl.edu 37 13 33629357 33629357 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 33629357 33629357 G A SNP KL ENST00000380099 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 44 9 16.98 65 0 0.00 KL 9365 genome.wustl.edu 37 13 33635286 33635286 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 33635286 33635286 G A SNP KL ENST00000380099 human ensembl 70_37 +1 known silent c.2070 p.P690 0.005 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 20 3 12.50 36 0 0.00 KLB 152831 genome.wustl.edu 37 4 39435888 39435888 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39435888 39435888 G T SNP KLB ENST00000257408 human ensembl 70_37 +1 known missense c.884 p.W295L 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 30 12 28.57 72 0 0.00 KLB 152831 genome.wustl.edu 37 4 39435943 39435943 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39435943 39435943 G C SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.939 p.T313 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 62 24 27.91 61 0 0.00 KLB 152831 genome.wustl.edu 37 4 39448764 39448764 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 39448764 39448764 C T SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.2418 p.L806 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 57 40 41.24 66 0 0.00 KLB 152831 genome.wustl.edu 37 4 39448914 39448914 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39448914 39448914 G A SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.2568 p.L856 0.961 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 112 32 22.22 185 0 0.00 KLC1 3831 genome.wustl.edu 37 14 104120978 104120978 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 104120978 104120978 C G SNP KLC1 ENST00000334553 human ensembl 70_37 +1 known missense c.77 p.S26C 0.780 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 5 17 77.27 46 0 0.00 KLC2 64837 genome.wustl.edu 37 11 66026210 66026210 + Nonsense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 66026210 66026210 G T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known nonsense c.145 p.E49* 0.611 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 27 52 65.82 55 0 0.00 KLC2 64837 genome.wustl.edu 37 11 66029354 66029354 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 66029354 66029354 G C SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.370 p.E124Q 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 41 6 12.77 34 0 0.00 KLC2 64837 genome.wustl.edu 37 11 66030328 66030328 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66030328 66030328 C T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known silent c.573 p.G191 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 38 9 19.15 24 0 0.00 KLC2 64837 genome.wustl.edu 37 11 66032657 66032657 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 66032657 66032657 G A SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.1285 p.A429T 0.999 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 36 15 29.41 79 0 0.00 KLC2 64837 genome.wustl.edu 37 11 66033433 66033433 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66033433 66033433 C T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.1552 p.R518W 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 33 16 32.65 53 0 0.00 KLC3 147700 genome.wustl.edu 37 19 45849946 45849946 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 45849946 45849946 G C SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known missense c.445 p.E149Q 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 16 4 20.00 19 0 0.00 KLC3 147700 genome.wustl.edu 37 19 45851407 45851407 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 45851407 45851407 G A SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known silent c.810 p.A270 0.960 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 51 36 41.38 106 0 0.00 KLC3 147700 genome.wustl.edu 37 19 45854574 45854574 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 45854574 45854574 C T SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known missense c.1516 p.R506W 0.353 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 143 44 23.53 87 0 0.00 KLC4 89953 genome.wustl.edu 37 6 43040984 43040984 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 43040984 43040984 G T SNP KLC4 ENST00000259708 human ensembl 70_37 +1 known missense c.1707 p.R569S 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 28 4 12.50 33 0 0.00 KLF10 7071 genome.wustl.edu 37 8 103664550 103664550 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 103664550 103664550 C T SNP KLF10 ENST00000285407 human ensembl 70_37 -1 known missense c.112 p.D38N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 179 57 24.15 285 0 0.00 KLF15 28999 genome.wustl.edu 37 3 126071245 126071245 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 126071245 126071245 G A SNP KLF15 ENST00000296233 human ensembl 70_37 -1 known missense c.521 p.S174L 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 20 9 31.03 22 0 0.00 KLF15 28999 genome.wustl.edu 37 3 126071330 126071330 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 126071330 126071330 C T SNP KLF15 ENST00000296233 human ensembl 70_37 -1 known missense c.436 p.E146K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 20 9 31.03 13 0 0.00 KLF17 128209 genome.wustl.edu 37 1 44596347 44596347 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 44596347 44596347 G A SNP KLF17 ENST00000372299 human ensembl 70_37 +1 known silent c.1089 p.K363 0.687 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 32 4 11.11 41 0 0.00 KLF3 51274 genome.wustl.edu 37 4 38690502 38690502 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 38690502 38690502 C T SNP KLF3 ENST00000261438 human ensembl 70_37 +1 known silent c.354 p.G118 0.152 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 39 6 13.33 24 0 0.00 KLF3 51274 genome.wustl.edu 37 4 38698705 38698705 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 38698705 38698705 G T SNP KLF3 ENST00000261438 human ensembl 70_37 +1 known nonsense c.859 p.E287* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 18 18 50.00 34 0 0.00 KLF5 688 genome.wustl.edu 37 13 73636078 73636078 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 73636078 73636078 G T SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.341 p.R114L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 15 6 28.57 24 0 0.00 KLF5 688 genome.wustl.edu 37 13 73636341 73636341 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73636341 73636341 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.604 p.E202K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 34 20 37.04 27 0 0.00 KLF5 688 genome.wustl.edu 37 13 73636562 73636562 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73636562 73636562 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known silent c.825 p.V275 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 44 13 22.81 49 0 0.00 KLF5 688 genome.wustl.edu 37 13 73649905 73649905 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73649905 73649905 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.1255 p.E419K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 23 11 32.35 31 0 0.00 KLF6 1316 genome.wustl.edu 37 10 3821734 3821734 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 3821734 3821734 G C SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known silent c.849 p.L283 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 7 4 36.36 17 0 0.00 KLF6 1316 genome.wustl.edu 37 10 3823849 3823849 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 3823849 3823849 G T SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known missense c.660 p.H220Q 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 14 9 39.13 21 0 0.00 KLF6 1316 genome.wustl.edu 37 10 3824162 3824162 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 3824162 3824162 G C SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known missense c.347 p.S116C 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 21 8 27.59 15 0 0.00 KLF8 11279 genome.wustl.edu 37 X 56292146 56292146 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 56292146 56292146 C T SNP KLF8 ENST00000468660 human ensembl 70_37 +1 known silent c.615 p.L205 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 33 8 19.51 48 0 0.00 KLF9 687 genome.wustl.edu 37 9 73027987 73027987 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 73027987 73027987 T G SNP KLF9 ENST00000377126 human ensembl 70_37 -1 known missense c.293 p.D98A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF9 HGNC ENSG00000119138 26 25 49.02 46 0 0.00 KLHDC1 122773 genome.wustl.edu 37 14 50218437 50218437 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 50218437 50218437 A G SNP KLHDC1 ENST00000359332 human ensembl 70_37 +1 known missense c.1168 p.R390G 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC1 HGNC ENSG00000197776 9 18 66.67 37 0 0.00 KLHDC3 116138 genome.wustl.edu 37 6 42985400 42985400 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 42985400 42985400 G C SNP KLHDC3 ENST00000326974 human ensembl 70_37 +1 known missense c.298 p.G100R 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 47 6 11.32 94 0 0.00 KLHDC3 116138 genome.wustl.edu 37 6 42986399 42986399 + Silent SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 42986399 42986399 T C SNP KLHDC3 ENST00000326974 human ensembl 70_37 +1 known silent c.762 p.F254 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 77 18 18.95 46 0 0.00 KLHDC4 54758 genome.wustl.edu 37 16 87734572 87734572 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 87734572 87734572 G T SNP KLHDC4 ENST00000568346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KLHDC4 HGNC ENSG00000104731 18 8 30.77 54 0 0.00 KLHDC4 54758 genome.wustl.edu 37 16 87764168 87764168 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 87764168 87764168 C A SNP KLHDC4 ENST00000270583 human ensembl 70_37 -1 known nonsense c.589 p.E197* 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 56 34 37.78 56 0 0.00 KLHL42 57542 genome.wustl.edu 37 12 27933812 27933812 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 27933812 27933812 G C SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known missense c.549 p.Q183H 1.000 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC ENSG00000087448 21 19 47.50 31 0 0.00 KLHL42 57542 genome.wustl.edu 37 12 27944650 27944650 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 27944650 27944650 C G SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known missense c.882 p.F294L 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC ENSG00000087448 203 76 27.24 379 0 0.00 KLHL42 57542 genome.wustl.edu 37 12 27950964 27950964 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 27950964 27950964 G A SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known silent c.1383 p.S461 0.973 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC ENSG00000087448 9 4 30.77 24 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18807595 18807595 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 18807595 18807595 G A SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known silent c.120 p.S40 0.940 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 54 40 42.55 57 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18808470 18808470 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 18808470 18808470 C T SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.995 p.S332L 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 14 15 51.72 20 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18808487 18808487 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 18808487 18808487 G T SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1012 p.D338Y 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 15 12 44.44 24 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18808567 18808567 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 18808567 18808567 G C SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1092 p.E364D 0.791 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 13 10 43.48 22 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18809383 18809383 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 18809383 18809383 C G SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1908 p.I636M 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 11 4 26.67 28 0 0.00 KLHDC7A 127707 genome.wustl.edu 37 1 18809383 18809383 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 18809383 18809383 C G SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1908 p.I636M 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 17 9 34.62 15 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50986792 50986792 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50986792 50986792 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.197 p.R66K 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 78 28 26.42 94 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50986843 50986843 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50986843 50986843 G C SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.248 p.R83T 0.001 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 73 25 25.25 83 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50986892 50986892 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50986892 50986892 G C SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known silent c.297 p.A99 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 24 17 41.46 54 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50987890 50987890 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 50987890 50987890 C T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1295 p.A432V 0.986 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 16 91 85.05 105 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50987890 50987890 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 50987890 50987890 C T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1295 p.A432V 0.986 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 17 78 82.11 28 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50988006 50988006 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988006 50988006 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1411 p.D471N 0.997 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 37 23 38.33 60 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50988318 50988318 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988318 50988318 G T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1723 p.G575W 0.975 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 27 17 38.64 33 0 0.00 KLHDC7B 113730 genome.wustl.edu 37 22 50988354 50988354 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988354 50988354 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1759 p.E587K 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 36 14 28.00 30 0 0.00 KLHDC8B 200942 genome.wustl.edu 37 3 49212502 49212502 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 49212502 49212502 G A SNP KLHDC8B ENST00000332780 human ensembl 70_37 +1 known nonsense c.774 p.W258* 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 25 17 40.48 28 0 0.00 KLHDC9 126823 genome.wustl.edu 37 1 161069237 161069237 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161069237 161069237 G A SNP KLHDC9 ENST00000368011 human ensembl 70_37 +1 known missense c.629 p.G210E 1.000 superfamily_Gal_Oxase/kelch_b-propeller superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC9 HGNC ENSG00000162755 39 6 13.33 19 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70281894 70281894 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 13 70281894 70281894 C A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.2050 p.A684S 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 27 4 12.90 46 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70371050 70371050 + Missense_Mutation SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 70371050 70371050 T A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.1459 p.I487F 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 28 27 49.09 39 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70371050 70371050 + Missense_Mutation SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 70371050 70371050 T A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.1459 p.I487F 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 62 70 52.63 149 1 0.66 KLHL1 57626 genome.wustl.edu 37 13 70514243 70514243 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 70514243 70514243 A C SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.943 p.L315V 0.821 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 42 10 19.23 50 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70535470 70535470 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 70535470 70535470 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.787 p.L263F 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 7 6 46.15 36 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70681587 70681587 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 13 70681587 70681587 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.245 p.P82L 0.862 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 26 24 48.00 27 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70681587 70681587 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 13 70681587 70681587 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.245 p.P82L 0.862 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 57 37 39.36 66 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70681766 70681766 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 70681766 70681766 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known silent c.66 p.F22 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 64 9 12.33 53 0 0.00 KLHL1 57626 genome.wustl.edu 37 13 70681805 70681805 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 70681805 70681805 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known silent c.27 p.F9 0.999 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 21 14 40.00 35 0 0.00 KLHL10 317719 genome.wustl.edu 37 17 39994305 39994305 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 39994305 39994305 G A SNP KLHL10 ENST00000293303 human ensembl 70_37 +1 known missense c.121 p.V41M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 48 13 21.31 41 0 0.00 KLHL11 55175 genome.wustl.edu 37 17 40010025 40010025 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40010025 40010025 C T SNP KLHL11 ENST00000319121 human ensembl 70_37 -1 known missense c.2094 p.M698I 1.000 NULL pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 95 32 25.20 114 1 0.87 KLHL11 55175 genome.wustl.edu 37 17 40010275 40010275 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40010275 40010275 C G SNP KLHL11 ENST00000319121 human ensembl 70_37 -1 known missense c.1844 p.G615A 0.999 pfam_Kelch_1,smart_Kelch_1 pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 46 31 40.26 75 0 0.00 KLHL12 59349 genome.wustl.edu 37 1 202880319 202880319 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 202880319 202880319 C G SNP KLHL12 ENST00000435533 human ensembl 70_37 -1 known missense c.694 p.E232Q 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 19 7 26.92 36 0 0.00 KLHL12 59349 genome.wustl.edu 37 1 202897624 202897624 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 202897624 202897624 G T SNP KLHL12 ENST00000435533 human ensembl 70_37 -1 known missense c.54 p.F18L 0.001 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 39 22 36.07 37 0 0.00 KLHL13 90293 genome.wustl.edu 37 X 117043457 117043457 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 117043457 117043457 G C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known silent c.1182 p.L394 0.990 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 38 19 33.33 53 0 0.00 KLHL13 90293 genome.wustl.edu 37 X 117053561 117053561 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 117053561 117053561 G C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known missense c.502 p.Q168E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 161 50 23.70 213 0 0.00 KLHL13 90293 genome.wustl.edu 37 X 117054302 117054302 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 117054302 117054302 A C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known missense c.281 p.L94R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 45 17 27.42 68 0 0.00 KLHL13 90293 genome.wustl.edu 37 X 117162393 117162393 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 117162393 117162393 C T SNP KLHL13 ENST00000540167 human ensembl 70_37 -1 known missense c.44 p.R15H 0.996 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 45 25 35.71 86 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30257279 30257279 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 30257279 30257279 C G SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.1603 p.D535H 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 19 11 36.67 24 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30260513 30260513 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 30260513 30260513 C T SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.1288 p.G430S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 17 5 22.73 18 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30350010 30350010 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 30350010 30350010 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.545 p.S182L 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 107 29 21.32 136 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30350010 30350010 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 30350010 30350010 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.545 p.S182L 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 36 6 14.29 17 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30350039 30350039 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 30350039 30350039 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known silent c.516 p.L172 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 63 11 14.67 108 0 0.00 KLHL14 57565 genome.wustl.edu 37 18 30350522 30350522 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 30350522 30350522 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known silent c.33 p.F11 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 13 11 45.83 51 0 0.00 KLHL15 80311 genome.wustl.edu 37 X 24006133 24006133 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 24006133 24006133 C T SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known missense c.1720 p.E574K 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 47 32 40.51 55 0 0.00 KLHL15 80311 genome.wustl.edu 37 X 24006341 24006341 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 24006341 24006341 G A SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.1512 p.F504 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 20 3 13.04 27 0 0.00 KLHL15 80311 genome.wustl.edu 37 X 24006425 24006425 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 24006425 24006425 G A SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.1428 p.Y476 0.905 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 121 52 29.89 57 0 0.00 KLHL15 80311 genome.wustl.edu 37 X 24024244 24024244 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 24024244 24024244 C T SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.567 p.L189 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 365 87 19.16 261 0 0.00 KLHL17 339451 genome.wustl.edu 37 1 897278 897278 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 897278 897278 C T SNP KLHL17 ENST00000338591 human ensembl 70_37 +1 known nonsense c.562 p.Q188* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 44 16 26.67 55 0 0.00 KLHL18 23276 genome.wustl.edu 37 3 47364191 47364191 + Nonsense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 47364191 47364191 C T SNP KLHL18 ENST00000232766 human ensembl 70_37 +1 known nonsense c.394 p.R132* 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 35 14 28.57 31 0 0.00 KLHL18 23276 genome.wustl.edu 37 3 47384226 47384226 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 47384226 47384226 C T SNP KLHL18 ENST00000232766 human ensembl 70_37 +1 known missense c.1244 p.S415L 0.999 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 40 34 45.95 73 0 0.00 KLHL2 11275 genome.wustl.edu 37 4 166231823 166231823 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 166231823 166231823 G A SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1158 p.M386I 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 289 99 25.45 344 0 0.00 KLHL2 11275 genome.wustl.edu 37 4 166231890 166231890 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 166231890 166231890 G C SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1225 p.D409H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 17 14 45.16 54 0 0.00 KLHL2 11275 genome.wustl.edu 37 4 166235222 166235222 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 166235222 166235222 G C SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1513 p.D505H 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 225 67 22.95 301 0 0.00 KLHL20 27252 genome.wustl.edu 37 1 173735316 173735316 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 173735316 173735316 G A SNP KLHL20 ENST00000209884 human ensembl 70_37 +1 known missense c.1183 p.D395N 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 120 32 21.05 154 0 0.00 KLHL20 27252 genome.wustl.edu 37 1 173743497 173743497 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 173743497 173743497 G T SNP KLHL20 ENST00000209884 human ensembl 70_37 +1 known missense c.1349 p.R450I 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 38 40 51.28 87 0 0.00 KLHL22 84861 genome.wustl.edu 37 22 20796610 20796610 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 20796610 20796610 C T SNP KLHL22 ENST00000328879 human ensembl 70_37 -1 known missense c.1655 p.R552H 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 42 7 14.29 68 0 0.00 KLHL23 151230 genome.wustl.edu 37 2 170591825 170591825 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 170591825 170591825 G C SNP KLHL23 ENST00000272797 human ensembl 70_37 +1 known missense c.301 p.E101Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 25 5 16.67 44 0 0.00 KLHL23 151230 genome.wustl.edu 37 2 170592188 170592188 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170592188 170592188 C T SNP KLHL23 ENST00000272797 human ensembl 70_37 +1 known silent c.664 p.L222 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 14 14 50.00 20 0 0.00 KLHL28 54813 genome.wustl.edu 37 14 45398273 45398273 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 14 45398273 45398273 G T SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known silent c.1674 p.G558 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 27 3 10.00 36 0 0.00 KLHL28 54813 genome.wustl.edu 37 14 45403317 45403317 + Splice_Site SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 45403317 45403317 C A SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known splice_site c.1343+1 e2+1 1.000 - - - no_errors KLHL28 HGNC ENSG00000179454 45 13 22.41 43 0 0.00 KLHL28 54813 genome.wustl.edu 37 14 45414681 45414681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 45414681 45414681 C T SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known missense c.451 p.D151N 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 14 13 48.15 55 0 0.00 KLHL29 114818 genome.wustl.edu 37 2 23785231 23785231 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 23785231 23785231 G A SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known silent c.165 p.P55 0.072 NULL pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 21 18 46.15 24 0 0.00 KLHL29 114818 genome.wustl.edu 37 2 23919346 23919346 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 23919346 23919346 G A SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known missense c.2068 p.G690R 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 18 17 48.57 34 0 0.00 KLHL29 114818 genome.wustl.edu 37 2 23929507 23929507 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 23929507 23929507 G T SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known silent c.2601 p.V867 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 27 4 12.90 35 0 0.00 KLHL3 26249 genome.wustl.edu 37 5 136964039 136964039 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 136964039 136964039 C T SNP KLHL3 ENST00000309755 human ensembl 70_37 -1 known missense c.1538 p.G513E 0.845 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 50 42 45.65 71 0 0.00 KLHL3 26249 genome.wustl.edu 37 5 136997701 136997701 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 136997701 136997701 G C SNP KLHL3 ENST00000309755 human ensembl 70_37 -1 known nonsense c.656 p.S219* 0.997 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 34 31 47.69 45 0 0.00 KLHL31 401265 genome.wustl.edu 37 6 53519746 53519746 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 53519746 53519746 G C SNP KLHL31 ENST00000370905 human ensembl 70_37 -1 known missense c.325 p.Q109E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 21 12 36.36 44 0 0.00 KLHL33 123103 genome.wustl.edu 37 14 20897148 20897148 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20897148 20897148 A C SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known missense c.1462 p.C488G 0.010 smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 32 15 31.91 66 0 0.00 KLHL33 123103 genome.wustl.edu 37 14 20897170 20897170 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 14 20897170 20897170 G A SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known silent c.1440 p.L480 0.015 smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 30 31 50.82 21 0 0.00 KLHL33 123103 genome.wustl.edu 37 14 20897328 20897328 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 20897328 20897328 C T SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known missense c.1282 p.E428K 0.991 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 20 8 28.57 26 0 0.00 KLHL34 257240 genome.wustl.edu 37 X 21675600 21675600 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 21675600 21675600 G A SNP KLHL34 ENST00000379499 human ensembl 70_37 -1 known silent c.307 p.L103 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 27 23 46.00 43 0 0.00 KLHL36 79786 genome.wustl.edu 37 16 84690989 84690989 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 84690989 84690989 G C SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known missense c.576 p.K192N 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 31 5 13.89 42 0 0.00 KLHL36 79786 genome.wustl.edu 37 16 84695382 84695382 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 84695382 84695382 C T SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known silent c.1494 p.I498 0.993 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 37 14 27.45 66 0 0.00 KLHL36 79786 genome.wustl.edu 37 16 84695457 84695457 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 84695457 84695457 C G SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known missense c.1569 p.C523W 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 33 12 26.67 51 0 0.00 KLHL38 340359 genome.wustl.edu 37 8 124658171 124658171 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 124658171 124658171 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known silent c.1554 p.V518 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 42 17 28.81 58 0 0.00 KLHL38 340359 genome.wustl.edu 37 8 124664078 124664078 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 124664078 124664078 C G SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.1089 p.W363C 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 23 14 37.84 33 0 0.00 KLHL38 340359 genome.wustl.edu 37 8 124664263 124664263 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 124664263 124664263 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.904 p.V302I 0.998 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 41 22 34.92 38 0 0.00 KLHL38 340359 genome.wustl.edu 37 8 124664926 124664926 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 124664926 124664926 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.241 p.D81N 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 36 24 40.00 56 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86772953 86772953 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 86772953 86772953 G C SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.57 p.W19C 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 40 16 28.57 44 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86772994 86772994 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 86772994 86772994 G A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.98 p.G33E 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 7 8 53.33 60 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86868950 86868950 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 86868950 86868950 G A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.493 p.A165T 1.000 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 106 35 24.82 143 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86869044 86869044 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 86869044 86869044 A G SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.587 p.H196R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 18 21 53.85 56 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86873003 86873003 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 86873003 86873003 C G SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.796 p.Q266E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 58 16 21.62 55 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86873030 86873030 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 86873030 86873030 C T SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.823 p.L275F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 54 18 25.00 86 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86890562 86890562 + Splice_Site SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 86890562 86890562 G T SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known splice_site c.1713-1 e9-1 0.953 - - - no_errors KLHL4 HGNC ENSG00000102271 53 18 25.35 21 0 0.00 KLHL4 56062 genome.wustl.edu 37 X 86890703 86890703 + Missense_Mutation SNP T T A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 86890703 86890703 T A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.1853 p.F618Y 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 34 4 10.53 41 0 0.00 KLHL5 51088 genome.wustl.edu 37 4 39077739 39077739 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 39077739 39077739 G A SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.676 p.A226T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 54 30 35.71 83 0 0.00 KLHL5 51088 genome.wustl.edu 37 4 39088213 39088213 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39088213 39088213 G A SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.1117 p.D373N 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 45 7 13.46 41 0 0.00 KLHL5 51088 genome.wustl.edu 37 4 39104955 39104955 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 39104955 39104955 C T SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.1487 p.P496L 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 25 17 40.48 57 0 0.00 KLHL6 89857 genome.wustl.edu 37 3 183209823 183209823 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 183209823 183209823 C T SNP KLHL6 ENST00000341319 human ensembl 70_37 -1 known silent c.1758 p.L586 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 164 42 20.39 116 0 0.00 KLHL6 89857 genome.wustl.edu 37 3 183273245 183273245 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183273245 183273245 C T SNP KLHL6 ENST00000341319 human ensembl 70_37 -1 known missense c.197 p.R66Q 0.668 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 61 26 29.89 36 0 0.00 KLHL6 89857 genome.wustl.edu 37 3 183273417 183273417 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 3 183273417 183273417 C T SNP KLHL6 ENST00000341319 human ensembl 70_37 -1 known missense c.25 p.A9T 0.001 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 96 58 37.66 93 0 0.00 KLHL7 55975 genome.wustl.edu 37 7 23164752 23164752 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 23164752 23164752 G C SNP KLHL7 ENST00000339077 human ensembl 70_37 +1 known missense c.403 p.D135H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 14 4 22.22 39 0 0.00 KLHL8 57563 genome.wustl.edu 37 4 88084771 88084771 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 88084771 88084771 G A SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.1763 p.S588F 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 24 12 33.33 27 0 0.00 KLHL8 57563 genome.wustl.edu 37 4 88099767 88099767 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 88099767 88099767 G C SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.958 p.L320V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 14 12 46.15 24 0 0.00 KLHL8 57563 genome.wustl.edu 37 4 88116574 88116574 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88116574 88116574 C G SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.118 p.D40H 0.998 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 58 14 19.44 48 0 0.00 KLHL9 55958 genome.wustl.edu 37 9 21334600 21334600 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 21334600 21334600 C G SNP KLHL9 ENST00000359039 human ensembl 70_37 -1 known missense c.259 p.E87Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC ENSG00000198642 8 7 46.67 25 0 0.00 KLK11 11012 genome.wustl.edu 37 19 51530213 51530213 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 51530213 51530213 C G SNP KLK11 ENST00000594458 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors KLK11 HGNC ENSG00000167757 32 9 21.95 19 0 0.00 KLK12 43849 genome.wustl.edu 37 19 51535321 51535321 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51535321 51535321 C T SNP KLK12 ENST00000250351 human ensembl 70_37 -1 known missense c.268 p.G90S 0.218 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 54 13 19.40 81 0 0.00 KLK12 43849 genome.wustl.edu 37 19 51537307 51537307 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51537307 51537307 G A SNP KLK12 ENST00000250352 human ensembl 70_37 -1 known missense c.56 p.A19V 0.127 pfam_Peptidase_S1_S6,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 - no_errors KLK12 HGNC ENSG00000186474 46 17 26.98 79 0 0.00 KLK13 26085 genome.wustl.edu 37 19 51563191 51563191 + Silent SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 51563191 51563191 C A SNP KLK13 ENST00000595793 human ensembl 70_37 -1 known silent c.399 p.P133 0.013 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 58 10 14.71 52 0 0.00 KLK14 43847 genome.wustl.edu 37 19 51584836 51584836 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 51584836 51584836 G A SNP KLK14 ENST00000156499 human ensembl 70_37 -1 known silent c.213 p.A71 0.927 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 43 26 37.68 74 0 0.00 KLK2 3817 genome.wustl.edu 37 19 51380002 51380002 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51380002 51380002 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.481 p.E161K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 12 30 71.43 57 0 0.00 KLK2 3817 genome.wustl.edu 37 19 51380002 51380002 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 51380002 51380002 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.481 p.E161K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 39 6 13.33 64 0 0.00 KLK2 3817 genome.wustl.edu 37 19 51380253 51380253 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 51380253 51380253 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.619 p.D207N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 35 53 60.23 79 0 0.00 KLK3 354 genome.wustl.edu 37 19 51361307 51361307 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51361307 51361307 C G SNP KLK3 ENST00000326003 human ensembl 70_37 +1 known missense c.229 p.R77G 0.190 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 37 9 19.57 29 0 0.00 KLK3 354 genome.wustl.edu 37 19 51361728 51361728 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51361728 51361728 G C SNP KLK3 ENST00000326003 human ensembl 70_37 +1 known missense c.507 p.K169N 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 15 13 46.43 25 0 0.00 KLK4 9622 genome.wustl.edu 37 19 51410259 51410259 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51410259 51410259 G A SNP KLK4 ENST00000324041 human ensembl 70_37 -1 known silent c.696 p.G232 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 31 8 20.51 46 0 0.00 KLK5 25818 genome.wustl.edu 37 19 51452178 51452178 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51452178 51452178 G C SNP KLK5 ENST00000336334 human ensembl 70_37 -1 known missense c.529 p.H177D 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 66 23 25.84 55 0 0.00 KLK8 11202 genome.wustl.edu 37 19 51499381 51499381 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 51499381 51499381 A T SNP KLK8 ENST00000391806 human ensembl 70_37 -1 known silent c.852 p.P284 0.982 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 37 7 15.91 49 0 0.00 KLK8 11202 genome.wustl.edu 37 19 51501139 51501139 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51501139 51501139 C A SNP KLK8 ENST00000391806 human ensembl 70_37 -1 known missense c.630 p.E210D 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 31 19 38.00 82 0 0.00 KLK9 284366 genome.wustl.edu 37 19 51506516 51506516 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 51506516 51506516 C G SNP KLK9 ENST00000250366 human ensembl 70_37 -1 known missense c.604 p.G202R 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK9 Uniprot_genename ENSG00000269741 67 14 17.28 76 0 0.00 KLKB1 3818 genome.wustl.edu 37 4 187153292 187153292 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 187153292 187153292 C G SNP KLKB1 ENST00000264690 human ensembl 70_37 +1 known missense c.70 p.Q24E 0.516 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 47 7 12.96 63 0 0.00 KLKB1 3818 genome.wustl.edu 37 4 187157959 187157959 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 187157959 187157959 G C SNP KLKB1 ENST00000264690 human ensembl 70_37 +1 known missense c.353 p.G118A 0.933 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 49 13 20.97 45 0 0.00 KLLN 100144748 genome.wustl.edu 37 10 89622151 89622151 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 89622151 89622151 G A SNP KLLN ENST00000445946 human ensembl 70_37 -1 known silent c.94 p.L32 0.991 NULL NULL - no_errors KLLN HGNC ENSG00000227268 61 28 31.46 90 0 0.00 KLRB1 3820 genome.wustl.edu 37 12 9754172 9754172 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 12 9754172 9754172 G T SNP KLRB1 ENST00000229402 human ensembl 70_37 -1 known missense c.109 p.H37N 0.500 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRB1 HGNC ENSG00000111796 16 3 15.79 27 0 0.00 KLRC1 3821 genome.wustl.edu 37 12 10601865 10601865 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 10601865 10601865 G A SNP KLRC1 ENST00000359151 human ensembl 70_37 -1 known silent c.460 p.L154 0.004 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 240 107 30.75 358 0 0.00 KLRC1 3821 genome.wustl.edu 37 12 10603153 10603153 + Silent SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 10603153 10603153 G T SNP KLRC1 ENST00000359151 human ensembl 70_37 -1 known silent c.213 p.L71 1.000 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 7 3 30.00 14 0 0.00 KLRC4 8302 genome.wustl.edu 37 12 10560365 10560365 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 10560365 10560365 C G SNP KLRC4 ENST00000309384 human ensembl 70_37 -1 known missense c.364 p.E122Q 0.017 superfamily_C-type_lectin_fold superfamily_C-type_lectin_fold - no_errors KLRC4 HGNC ENSG00000183542 35 11 23.91 76 0 0.00 KLRD1 3824 genome.wustl.edu 37 12 10464146 10464146 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 10464146 10464146 A G SNP KLRD1 ENST00000381908 human ensembl 70_37 +1 known missense c.247 p.N83D 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 35 15 30.00 58 0 0.00 KLRD1 3824 genome.wustl.edu 37 12 10464197 10464197 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 10464197 10464197 C T SNP KLRD1 ENST00000381908 human ensembl 70_37 +1 known nonsense c.298 p.Q100* 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 51 31 37.80 57 0 0.00 KLRD1 3824 genome.wustl.edu 37 12 10464230 10464230 + RNA SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 10464230 10464230 G A SNP KLRD1 ENST00000538997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KLRD1 HGNC ENSG00000134539 55 12 17.91 67 0 0.00 KLRG2 346689 genome.wustl.edu 37 7 139164445 139164445 + Silent SNP C C A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 7 139164445 139164445 C A SNP KLRG2 ENST00000340940 human ensembl 70_37 -1 known silent c.933 p.A311 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 34 6 15.00 36 0 0.00 KMO 8564 genome.wustl.edu 37 1 241714342 241714342 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 241714342 241714342 C T SNP KMO ENST00000366559 human ensembl 70_37 +1 known nonsense c.310 p.Q104* 0.998 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 178 25 12.32 166 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 134980891 134980891 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 134980891 134980891 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.109 p.V37M 1.000 smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 5 4 44.44 14 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135010587 135010587 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 135010587 135010587 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.1760 p.R587Q 0.996 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 32 21 39.62 63 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135011222 135011222 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 135011222 135011222 C G SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known nonsense c.1856 p.S619* 0.016 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 40 37 48.05 81 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135015315 135015315 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 135015315 135015315 C T SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known silent c.3306 p.A1102 0.904 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 20 9 31.03 13 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135015330 135015330 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 10 135015330 135015330 C T SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known silent c.3321 p.A1107 0.055 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 20 8 28.57 22 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135020478 135020478 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 135020478 135020478 G A SNP KNDC1 ENST00000368571 human ensembl 70_37 +1 putative silent c.3405 p.P1135 0.000 NULL superfamily_Kinase-like_dom,smart_KIND - no_errors KNDC1 HGNC ENSG00000171798 10 6 37.50 15 0 0.00 KNDC1 85442 genome.wustl.edu 37 10 135024981 135024981 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 10 135024981 135024981 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.3970 p.V1324I 0.993 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 23 22 48.89 50 0 0.00 KNG1 3827 genome.wustl.edu 37 3 186456902 186456902 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 186456902 186456902 G A SNP KNG1 ENST00000265023 human ensembl 70_37 +1 known silent c.945 p.K315 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 34 17 33.33 37 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123019305 123019305 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 123019305 123019305 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.224 p.R75T 1.000 superfamily_WD40_repeat_dom pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 69 8 10.39 82 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123052845 123052845 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 123052845 123052845 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.1642 p.D548N 0.998 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 26 19 42.22 42 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123057714 123057714 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123057714 123057714 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2165 p.R722Q 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 21 11 34.38 63 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123057788 123057788 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 123057788 123057788 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2239 p.E747Q 0.960 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 115 42 26.75 153 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123058851 123058851 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 123058851 123058851 C G SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known nonsense c.2306 p.S769* 0.987 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 23 4 14.81 51 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123062283 123062283 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 123062283 123062283 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2786 p.R929T 0.995 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 28 16 36.36 47 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123062327 123062327 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123062327 123062327 C A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2830 p.H944N 0.000 superfamily_PAH pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 20 15 42.86 42 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123069534 123069534 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 123069534 123069534 G T SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.3531 p.M1177I 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 19 7 26.92 23 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123072416 123072416 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 123072416 123072416 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.3889 p.E1297K 0.987 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 24 29 54.72 81 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123078605 123078605 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123078605 123078605 G A SNP KNTC1 ENST00000545065 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors KNTC1 HGNC ENSG00000184445 5 4 44.44 13 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123078723 123078723 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123078723 123078723 G A SNP KNTC1 ENST00000545065 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KNTC1 HGNC ENSG00000184445 17 10 37.04 39 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123078898 123078898 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 123078898 123078898 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.4321 p.D1441H 0.982 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 31 17 35.42 57 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123082420 123082420 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123082420 123082420 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.4498 p.E1500Q 0.646 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 39 11 22.00 48 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123087422 123087422 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 123087422 123087422 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known silent c.4872 p.S1624 0.115 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 113 40 26.14 120 0 0.00 KNTC1 9735 genome.wustl.edu 37 12 123089427 123089427 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 123089427 123089427 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.5179 p.E1727K 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 9 3 25.00 20 0 0.00 KPNA1 3836 genome.wustl.edu 37 3 122144682 122144682 + RNA SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 122144682 122144682 T C SNP KPNA1 ENST00000470904 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KPNA1 HGNC ENSG00000114030 50 22 30.56 64 0 0.00 KPNA1 3836 genome.wustl.edu 37 3 122145813 122145813 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 122145813 122145813 G A SNP KPNA1 ENST00000466923 human ensembl 70_37 -1 known rna NULL NULL 0.927 - - - no_errors KPNA1 HGNC ENSG00000114030 32 12 27.27 22 0 0.00 KPNA1 3836 genome.wustl.edu 37 3 122152575 122152575 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 122152575 122152575 G A SNP KPNA1 ENST00000344337 human ensembl 70_37 -1 known missense c.1183 p.R395W 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 98 24 19.51 73 0 0.00 KPNA1 3836 genome.wustl.edu 37 3 122186234 122186234 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122186234 122186234 C G SNP KPNA1 ENST00000344337 human ensembl 70_37 -1 known missense c.172 p.E58Q 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 71 21 22.83 39 0 0.00 KPNA2 3838 genome.wustl.edu 37 17 66038376 66038376 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66038376 66038376 G C SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.478 p.D160H 0.998 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 373 115 23.57 546 0 0.00 KPNA2 3838 genome.wustl.edu 37 17 66039098 66039098 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 66039098 66039098 G C SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.649 p.D217H 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 92 25 21.19 82 0 0.00 KPNA2 3838 genome.wustl.edu 37 17 66039427 66039427 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 66039427 66039427 G T SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.878 p.G293V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 343 92 21.15 490 0 0.00 KPNA2 3838 genome.wustl.edu 37 17 66040016 66040016 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66040016 66040016 G A SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known silent c.993 p.V331 0.884 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 225 58 20.49 354 0 0.00 KPNA3 3839 genome.wustl.edu 37 13 50275977 50275977 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 50275977 50275977 C G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 25 21 45.65 49 0 0.00 KPNA3 3839 genome.wustl.edu 37 13 50285123 50285123 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 50285123 50285123 C G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.807 p.L269F 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 26 7 21.21 44 0 0.00 KPNA3 3839 genome.wustl.edu 37 13 50366632 50366632 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 50366632 50366632 T G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.11 p.N4T 1.000 pfam_Importin-a_IBB,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 41 5 10.87 59 0 0.00 KPNA3 3839 genome.wustl.edu 37 13 50366636 50366636 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 50366636 50366636 C T SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 71 16 18.39 123 0 0.00 KPNA5 3841 genome.wustl.edu 37 6 117023290 117023290 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 117023290 117023290 G A SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.544 p.E182K 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 37 13 26.00 87 0 0.00 KPNA5 3841 genome.wustl.edu 37 6 117023296 117023296 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 117023296 117023296 G A SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 40 14 25.93 88 0 0.00 KPNA5 3841 genome.wustl.edu 37 6 117053428 117053428 + Missense_Mutation SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 117053428 117053428 A T SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.1562 p.N521I 0.939 NULL pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 10 4 28.57 27 0 0.00 KPNA6 23633 genome.wustl.edu 37 1 32620238 32620238 + Frame_Shift_Del DEL G G - TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620238 32620238 G - DEL KPNA6 ENST00000545542 human ensembl 70_37 +1 known frame_shift_del c.69 p.N24fs 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 66 26 28.26 62 0 0.00 KPNA6 23633 genome.wustl.edu 37 1 32620244 32620244 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620244 32620244 T A SNP KPNA6 ENST00000545542 human ensembl 70_37 +1 known missense c.75 p.N25K 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 64 29 31.18 65 0 0.00 KPNA6 23633 genome.wustl.edu 37 1 32620245 32620245 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620245 32620245 G T SNP KPNA6 ENST00000545542 human ensembl 70_37 +1 known missense c.76 p.A26S 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 65 29 30.85 66 0 0.00 KPNA7 402569 genome.wustl.edu 37 7 98775650 98775650 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 98775650 98775650 G A SNP KPNA7 ENST00000327442 human ensembl 70_37 -1 known silent c.1357 p.L453 0.775 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC ENSG00000185467 23 28 54.90 33 0 0.00 KPNA7 402569 genome.wustl.edu 37 7 98790706 98790706 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98790706 98790706 C G SNP KPNA7 ENST00000327442 human ensembl 70_37 -1 known missense c.572 p.R191T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC ENSG00000185467 154 64 29.09 192 0 0.00 KPRP 448834 genome.wustl.edu 37 1 152732421 152732421 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 152732421 152732421 C T SNP KPRP ENST00000368773 human ensembl 70_37 +1 known silent c.357 p.Y119 0.064 NULL NULL - no_errors KPRP HGNC ENSG00000203786 164 124 43.06 356 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 29 37 55.22 66 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398257 25398257 + Missense_Mutation SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 25398257 25398257 A C SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.62 p.I21R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 19 18 48.65 48 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 63 13 17.11 71 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 33 36 51.43 74 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 24 8 25.00 42 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 88 28 24.14 29 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 15 15 50.00 42 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 39 30 43.48 43 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 21 19 47.50 43 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 32 9 21.95 40 0 0.00 KRAS 3845 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 25398285 25398285 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.34 p.G12C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 35 15 30.00 59 0 0.00 KRBA1 84626 genome.wustl.edu 37 7 149419615 149419615 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 149419615 149419615 G C SNP KRBA1 ENST00000255992 human ensembl 70_37 +1 known missense c.569 p.R190T 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 40 26 39.39 42 0 0.00 KRBA1 84626 genome.wustl.edu 37 7 149430667 149430667 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149430667 149430667 G A SNP KRBA1 ENST00000255992 human ensembl 70_37 +1 known nonsense c.2621 p.W874* 0.985 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 49 10 16.95 58 0 0.00 KRBA2 124751 genome.wustl.edu 37 17 8272985 8272985 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 8272985 8272985 G T SNP KRBA2 ENST00000331336 human ensembl 70_37 -1 known missense c.946 p.L316I 0.998 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 20 11 35.48 41 0 0.00 KREMEN1 83999 genome.wustl.edu 37 22 29490296 29490296 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 29490296 29490296 G T SNP KREMEN1 ENST00000327813 human ensembl 70_37 +1 known missense c.148 p.A50S 0.999 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Kremen,pfscan_Kringle pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 25 7 21.88 60 0 0.00 KREMEN1 83999 genome.wustl.edu 37 22 29536304 29536304 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 29536304 29536304 C T SNP KREMEN1 ENST00000327813 human ensembl 70_37 +1 known silent c.1209 p.I403 1.000 pirsf_Kremen pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 42 27 39.13 76 0 0.00 KRI1 65095 genome.wustl.edu 37 19 10676487 10676488 + In_Frame_Ins INS - - CCC TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 10676487 10676488 - CCC INS KRI1 ENST00000361821 human ensembl 70_37 -1 putative in_frame_ins c.80_79 p.27in_frame_insG 0.000:0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 12 5 29.41 8 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53069101 53069101 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53069101 53069101 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1811 p.S604F 0.059 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 11 5 31.25 25 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53069220 53069220 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 12 53069220 53069220 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1692 p.G564 0.375 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 59 9 13.24 69 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53069235 53069235 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53069235 53069235 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1677 p.Y559 0.007 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 61 8 11.59 66 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53069243 53069243 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53069243 53069243 T C SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1669 p.S557G 0.300 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 64 8 11.11 68 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53070101 53070101 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53070101 53070101 T C SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1433 p.E478G 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 22 17 43.59 60 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53071166 53071166 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 53071166 53071166 G T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1062 p.V354 0.224 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 51 15 22.73 109 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53072003 53072003 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 53072003 53072003 C G SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.811 p.E271Q 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 62 16 20.51 102 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53072416 53072416 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 53072416 53072416 C T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.716 p.R239Q 0.930 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 55 33 37.50 72 0 0.00 KRT1 3848 genome.wustl.edu 37 12 53072464 53072464 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53072464 53072464 C T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.668 p.R223K 0.049 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 28 29 50.88 48 0 0.00 KRT10 3858 genome.wustl.edu 37 17 38975036 38975037 + Splice_Site INS - - ACCT TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 38975036 38975037 - ACCT INS KRT10 ENST00000269576 human ensembl 70_37 -1 known splice_site_ins c.1748+2_1748+1 e7+2 1.000:1.000 - - - no_errors KRT10 HGNC ENSG00000186395 26 8 23.53 45 0 0.00 KRT10 3858 genome.wustl.edu 37 17 38976838 38976838 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 38976838 38976838 C T SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known silent c.792 p.L264 0.212 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 100 13 11.50 86 0 0.00 KRT10 3858 genome.wustl.edu 37 17 38977328 38977328 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38977328 38977328 C G SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known missense c.669 p.Q223H 0.947 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 31 16 34.04 39 0 0.00 KRT10 3858 genome.wustl.edu 37 17 38978671 38978671 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 38978671 38978671 G C SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known missense c.167 p.S56C 0.992 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 53 10 15.87 35 0 0.00 KRT121P 85349 genome.wustl.edu 37 12 52647411 52647411 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52647411 52647411 C T SNP KRT121P ENST00000529785 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 73 50 40.65 62 0 0.00 KRT121P 85349 genome.wustl.edu 37 12 52647456 52647456 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52647456 52647456 C T SNP KRT121P ENST00000529785 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 48 30 38.46 84 0 0.00 KRT121P 85349 genome.wustl.edu 37 12 52652146 52652146 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 52652146 52652146 G A SNP KRT121P ENST00000529785 human ensembl 70_37 -1 known rna NULL NULL 0.731 - - - no_errors KRT121P HGNC ENSG00000135477 199 36 15.32 65 0 0.00 KRT13 3860 genome.wustl.edu 37 17 39659972 39659972 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39659972 39659972 C T SNP KRT13 ENST00000246635 human ensembl 70_37 -1 known silent c.501 p.L167 0.325 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 28 17 37.78 45 0 0.00 KRT13 3860 genome.wustl.edu 37 17 39659978 39659978 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39659978 39659978 C T SNP KRT13 ENST00000246635 human ensembl 70_37 -1 known splice_site c.496-1 e2-1 1.000 - - - no_errors KRT13 HGNC ENSG00000171401 24 17 41.46 44 0 0.00 KRT14 3861 genome.wustl.edu 37 17 39742949 39742949 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39742949 39742949 G A SNP KRT14 ENST00000167586 human ensembl 70_37 -1 known silent c.138 p.Y46 0.086 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 88 45 33.83 166 0 0.00 KRT15 3866 genome.wustl.edu 37 17 39672427 39672427 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 39672427 39672427 C G SNP KRT15 ENST00000254043 human ensembl 70_37 -1 known missense c.829 p.E277Q 0.989 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 232 67 22.41 362 0 0.00 KRT15 3866 genome.wustl.edu 37 17 39673157 39673157 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 39673157 39673157 C T SNP KRT15 ENST00000254043 human ensembl 70_37 -1 known missense c.641 p.R214Q 0.596 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 58 45 43.69 78 0 0.00 KRT15 3866 genome.wustl.edu 37 17 39673167 39673167 + Missense_Mutation SNP C C A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 39673167 39673167 C A SNP KRT15 ENST00000254043 human ensembl 70_37 -1 known missense c.631 p.G211C 0.991 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 105 58 35.58 90 0 0.00 KRT16 3868 genome.wustl.edu 37 17 39768637 39768637 + Missense_Mutation SNP A A C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 39768637 39768637 A C SNP KRT16 ENST00000301653 human ensembl 70_37 -1 known missense c.304 p.F102V 0.013 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 206 136 39.65 239 0 0.00 KRT16P2 400578 genome.wustl.edu 37 17 16734868 16734868 + RNA SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 17 16734868 16734868 C T SNP KRT16P2 ENST00000579062 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P2 HGNC ENSG00000227300 0 16 100.00 41 0 0.00 KRT16P2 400578 genome.wustl.edu 37 17 16734875 16734875 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16734875 16734875 G A SNP KRT16P2 ENST00000579062 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors KRT16P2 HGNC ENSG00000227300 45 13 22.41 51 0 0.00 KRT16P2 400578 genome.wustl.edu 37 17 16735648 16735648 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 16735648 16735648 C T SNP KRT16P2 ENST00000579062 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P2 HGNC ENSG00000227300 280 47 14.37 334 1 0.30 KRT16P3 644945 genome.wustl.edu 37 17 20404880 20404880 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 20404880 20404880 G T SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.202 - - - no_errors KRT16P3 HGNC ENSG00000214822 31 8 20.51 44 0 0.00 KRT16P3 644945 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 25 4 13.79 31 0 0.00 KRT16P3 644945 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 34 4 10.53 40 0 0.00 KRT16P3 644945 genome.wustl.edu 37 17 20407705 20407705 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 20407705 20407705 G C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 41 44 51.76 165 0 0.00 KRT17P1 147228 genome.wustl.edu 37 17 16746889 16746889 + RNA SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 16746889 16746889 C G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors KRT17P1 HGNC ENSG00000131885 37 7 15.91 30 0 0.00 KRT17P1 147228 genome.wustl.edu 37 17 16746889 16746889 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 16746889 16746889 C G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors KRT17P1 HGNC ENSG00000131885 5 6 54.55 17 0 0.00 KRT17P1 147228 genome.wustl.edu 37 17 16748860 16748860 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 16748860 16748860 C T SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KRT17P1 HGNC ENSG00000131885 18 5 21.74 35 0 0.00 KRT17P1 147228 genome.wustl.edu 37 17 16748885 16748885 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 17 16748885 16748885 A G SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 0.510 - - - no_errors KRT17P1 HGNC ENSG00000131885 1 10 90.91 13 0 0.00 KRT18 3875 genome.wustl.edu 37 12 53344642 53344642 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53344642 53344642 C T SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known silent c.609 p.I203 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 12 7 36.84 27 0 0.00 KRT18 3875 genome.wustl.edu 37 12 53344643 53344643 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53344643 53344643 G C SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known missense c.610 p.E204Q 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 20 7 25.93 35 0 0.00 KRT18 3875 genome.wustl.edu 37 12 53344685 53344685 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53344685 53344685 G A SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known missense c.652 p.E218K 0.996 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 19 4 17.39 27 0 0.00 KRT19 3880 genome.wustl.edu 37 17 39684455 39684455 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39684455 39684455 G A SNP KRT19 ENST00000361566 human ensembl 70_37 -1 known silent c.45 p.F15 0.994 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 14 5 26.32 10 0 0.00 KRT2 3849 genome.wustl.edu 37 12 53038879 53038879 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 53038879 53038879 C T SNP KRT2 ENST00000309680 human ensembl 70_37 -1 known missense c.1844 p.G615E 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 109 25 18.66 131 0 0.00 KRT2 3849 genome.wustl.edu 37 12 53045652 53045652 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 53045652 53045652 C T SNP KRT2 ENST00000309680 human ensembl 70_37 -1 known missense c.275 p.R92K 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 85 32 27.35 123 0 0.00 KRT20 54474 genome.wustl.edu 37 17 39041065 39041065 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39041065 39041065 C T SNP KRT20 ENST00000167588 human ensembl 70_37 -1 known missense c.373 p.E125K 0.005 pfam_F pfam_F,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 52 9 14.75 47 0 0.00 KRT20 54474 genome.wustl.edu 37 17 39041320 39041320 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 39041320 39041320 C T SNP KRT20 ENST00000167588 human ensembl 70_37 -1 known missense c.118 p.G40R 1.000 NULL pfam_F,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 47 6 11.32 42 0 0.00 KRT222 125113 genome.wustl.edu 37 17 38818185 38818185 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 38818185 38818185 C T SNP KRT222 ENST00000394052 human ensembl 70_37 -1 known missense c.208 p.E70K 1.000 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 47 21 30.88 63 0 0.00 KRT23 25984 genome.wustl.edu 37 17 39079242 39079242 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39079242 39079242 C T SNP KRT23 ENST00000209718 human ensembl 70_37 -1 known silent c.1268 p.*423 0.003 NULL pfam_F,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 37 24 39.34 64 0 0.00 KRT23 25984 genome.wustl.edu 37 17 39087627 39087627 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39087627 39087627 G C SNP KRT23 ENST00000209718 human ensembl 70_37 -1 known silent c.477 p.L159 1.000 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 29 11 27.50 30 0 0.00 KRT24 192666 genome.wustl.edu 37 17 38857427 38857427 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 38857427 38857427 C T SNP KRT24 ENST00000264651 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 54 44 44.44 48 0 0.00 KRT24 192666 genome.wustl.edu 37 17 38859538 38859538 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 38859538 38859538 G T SNP KRT24 ENST00000264651 human ensembl 70_37 -1 known missense c.408 p.F136L 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 21 6 22.22 50 0 0.00 KRT25 147183 genome.wustl.edu 37 17 38904606 38904606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 38904606 38904606 G T SNP KRT25 ENST00000312150 human ensembl 70_37 -1 known missense c.1276 p.L426I 0.980 NULL pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 20 9 31.03 61 0 0.00 KRT27 342574 genome.wustl.edu 37 17 38933324 38933324 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 38933324 38933324 G A SNP KRT27 ENST00000301656 human ensembl 70_37 -1 known missense c.1307 p.S436L 0.871 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 54 6 10.00 38 0 0.00 KRT28 162605 genome.wustl.edu 37 17 38950145 38950145 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 38950145 38950145 C G SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1132 p.D378H 0.378 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 16 47 74.60 69 0 0.00 KRT28 162605 genome.wustl.edu 37 17 38950178 38950178 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38950178 38950178 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1099 p.E367K 0.997 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 43 15 25.86 54 0 0.00 KRT28 162605 genome.wustl.edu 37 17 38950189 38950189 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38950189 38950189 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1088 p.R363K 0.317 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 43 18 29.51 53 0 0.00 KRT28 162605 genome.wustl.edu 37 17 38950265 38950265 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 38950265 38950265 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1012 p.E338K 0.992 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 88 41 31.78 152 0 0.00 KRT3 3850 genome.wustl.edu 37 12 53185154 53185154 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 53185154 53185154 G A SNP KRT3 ENST00000309505 human ensembl 70_37 -1 known silent c.1371 p.L457 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 59 35 37.23 70 0 0.00 KRT31 3881 genome.wustl.edu 37 17 39550303 39550303 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 39550303 39550303 G C SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known missense c.1216 p.P406A 0.465 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 81 26 24.30 131 0 0.00 KRT31 3881 genome.wustl.edu 37 17 39553231 39553231 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 39553231 39553231 G A SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known missense c.365 p.S122F 0.005 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 37 10 21.28 101 1 0.98 KRT31 3881 genome.wustl.edu 37 17 39553570 39553570 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 39553570 39553570 C T SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known silent c.222 p.V74 0.998 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 114 27 19.15 158 0 0.00 KRT32 3882 genome.wustl.edu 37 17 39623157 39623157 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 39623157 39623157 G C SNP KRT32 ENST00000225899 human ensembl 70_37 -1 known missense c.421 p.P141A 0.232 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 81 29 26.36 70 0 0.00 KRT32 3882 genome.wustl.edu 37 17 39623183 39623183 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 39623183 39623183 G C SNP KRT32 ENST00000225899 human ensembl 70_37 -1 known missense c.395 p.S132C 0.008 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 98 25 20.33 73 0 0.00 KRT33A 3883 genome.wustl.edu 37 17 39505616 39505616 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39505616 39505616 G A SNP KRT33A ENST00000007735 human ensembl 70_37 -1 known missense c.413 p.S138L 0.587 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 51 56 52.34 94 0 0.00 KRT34 3885 genome.wustl.edu 37 17 39535335 39535335 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 39535335 39535335 G A SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known nonsense c.1096 p.Q366* 0.970 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 32 62 65.96 110 0 0.00 KRT34 3885 genome.wustl.edu 37 17 39537389 39537389 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 39537389 39537389 C G SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known silent c.633 p.L211 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 37 22 37.29 77 0 0.00 KRT34 3885 genome.wustl.edu 37 17 39538343 39538343 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 39538343 39538343 G A SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known silent c.282 p.F94 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 86 28 24.56 147 0 0.00 KRT35 3886 genome.wustl.edu 37 17 39633831 39633831 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 39633831 39633831 G A SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known missense c.1159 p.R387W 0.880 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 114 25 17.99 156 0 0.00 KRT35 3886 genome.wustl.edu 37 17 39634664 39634664 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39634664 39634664 C G SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known silent c.948 p.L316 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 44 33 42.86 60 0 0.00 KRT35 3886 genome.wustl.edu 37 17 39635695 39635695 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39635695 39635695 C T SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known silent c.615 p.R205 0.564 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 58 25 30.12 76 0 0.00 KRT35 3886 genome.wustl.edu 37 17 39636896 39636896 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 39636896 39636896 C T SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known missense c.454 p.E152K 0.949 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 32 16 33.33 75 0 0.00 KRT36 8689 genome.wustl.edu 37 17 39644584 39644584 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 39644584 39644584 C G SNP KRT36 ENST00000328119 human ensembl 70_37 -1 known missense c.610 p.D204H 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 40 17 29.82 53 0 0.00 KRT37 8688 genome.wustl.edu 37 17 39577629 39577629 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39577629 39577629 C T SNP KRT37 ENST00000225550 human ensembl 70_37 -1 known missense c.1231 p.E411K 0.981 pfam_F pfam_F,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 72 27 27.27 70 0 0.00 KRT38 8687 genome.wustl.edu 37 17 39594972 39594972 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 39594972 39594972 C A SNP KRT38 ENST00000246646 human ensembl 70_37 -1 known missense c.871 p.V291L 0.544 pfam_F pfam_F,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 52 36 40.45 90 0 0.00 KRT38 8687 genome.wustl.edu 37 17 39597089 39597089 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39597089 39597089 C T SNP KRT38 ENST00000246646 human ensembl 70_37 -1 known missense c.85 p.D29N 0.001 NULL pfam_F,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 58 26 30.95 93 0 0.00 KRT39 390792 genome.wustl.edu 37 17 39118419 39118419 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 39118419 39118419 G A SNP KRT39 ENST00000355612 human ensembl 70_37 -1 known nonsense c.991 p.R331* 1.000 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 20 24 54.55 21 0 0.00 KRT4 3851 genome.wustl.edu 37 12 53202174 53202174 + Silent SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 53202174 53202174 T C SNP KRT4 ENST00000293774 human ensembl 70_37 -1 known silent c.1251 p.Q417 0.003 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 81 41 33.61 126 0 0.00 KRT4 3851 genome.wustl.edu 37 12 53207817 53207817 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 53207817 53207817 C G SNP KRT4 ENST00000293774 human ensembl 70_37 -1 known missense c.248 p.R83P 0.817 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 37 11 22.92 51 0 0.00 KRT40 125115 genome.wustl.edu 37 17 39135243 39135243 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 39135243 39135243 C T SNP KRT40 ENST00000377755 human ensembl 70_37 -1 known missense c.1009 p.E337K 0.995 pfam_F pfam_F,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 21 12 36.36 22 0 0.00 KRT40 125115 genome.wustl.edu 37 17 39137270 39137270 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 39137270 39137270 C G SNP KRT40 ENST00000377755 human ensembl 70_37 -1 known missense c.821 p.R274T 0.438 pfam_F pfam_F,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 44 17 27.87 43 0 0.00 KRT42P 284116 genome.wustl.edu 37 17 39782818 39782818 + RNA SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 39782818 39782818 G A SNP KRT42P ENST00000398469 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors KRT42P HGNC ENSG00000214514 15 15 48.39 26 0 0.00 KRT42P 284116 genome.wustl.edu 37 17 39785217 39785217 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 39785217 39785217 C G SNP KRT42P ENST00000438131 human ensembl 70_37 -1 known rna NULL NULL 0.311 - - - no_errors KRT42P HGNC ENSG00000214514 94 12 11.21 100 0 0.00 KRT5 3852 genome.wustl.edu 37 12 52908959 52908959 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52908959 52908959 C T SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known missense c.1540 p.G514R 0.003 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 44 35 44.30 74 0 0.00 KRT5 3852 genome.wustl.edu 37 12 52913666 52913666 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 52913666 52913666 C T SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known missense c.415 p.G139S 0.866 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 38 66 63.46 127 0 0.00 KRT5 3852 genome.wustl.edu 37 12 52914024 52914024 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 52914024 52914024 G A SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known silent c.57 p.T19 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 55 10 15.38 64 0 0.00 KRT6A 3853 genome.wustl.edu 37 12 52881697 52881697 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 52881697 52881697 C T SNP KRT6A ENST00000330722 human ensembl 70_37 -1 known missense c.1502 p.S501N 0.007 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 82 13 13.68 105 0 0.00 KRT6A 3853 genome.wustl.edu 37 12 52883813 52883813 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 52883813 52883813 C A SNP KRT6A ENST00000330722 human ensembl 70_37 -1 known missense c.1117 p.D373Y 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 103 58 35.80 148 1 0.67 KRT6B 3854 genome.wustl.edu 37 12 52841348 52841348 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 52841348 52841348 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.1434 p.G478 0.786 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 28 30 51.72 50 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52842665 52842665 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 52842665 52842665 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.1164 p.I388 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 68 83 54.97 139 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52843273 52843273 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 52843273 52843273 C G SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.1057 p.E353Q 0.996 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 145 56 27.86 258 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52843279 52843279 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 52843279 52843279 C G SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.1051 p.E351Q 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 63 51 44.74 145 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52844261 52844261 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 52844261 52844261 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.684 p.I228 0.001 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 92 59 39.07 119 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52845362 52845362 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 52845362 52845362 G C SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 132 39 22.81 136 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52845379 52845379 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 52845379 52845379 C T SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.484 p.E162K 0.985 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 109 21 16.15 187 0 0.00 KRT6B 3854 genome.wustl.edu 37 12 52845801 52845801 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 52845801 52845801 T C SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.62 p.N21S 0.831 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 86 21 19.63 117 1 0.85 KRT6C 286887 genome.wustl.edu 37 12 52863516 52863516 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52863516 52863516 G C SNP KRT6C ENST00000252250 human ensembl 70_37 -1 known silent c.1362 p.V454 0.997 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 48 44 47.83 67 0 0.00 KRT7 3855 genome.wustl.edu 37 12 52627214 52627214 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52627214 52627214 C G SNP KRT7 ENST00000331817 human ensembl 70_37 +1 known nonsense c.134 p.S45* 0.145 NULL pfam_F,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 4 4 50.00 9 0 0.00 KRT7 3855 genome.wustl.edu 37 12 52631389 52631389 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 52631389 52631389 G C SNP KRT7 ENST00000547613 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KRT7 HGNC ENSG00000135480 78 24 23.08 57 0 0.00 KRT7 3855 genome.wustl.edu 37 12 52641573 52641573 + RNA SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 52641573 52641573 C A SNP KRT7 ENST00000550153 human ensembl 70_37 +1 putative rna NULL NULL 0.016 - - - no_errors KRT7 HGNC ENSG00000135480 40 29 42.03 17 0 0.00 KRT71 112802 genome.wustl.edu 37 12 52940165 52940165 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 52940165 52940165 C T SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known silent c.1230 p.R410 0.775 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 82 24 22.64 113 0 0.00 KRT71 112802 genome.wustl.edu 37 12 52940257 52940257 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52940257 52940257 C G SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known missense c.1138 p.E380Q 0.995 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 30 36 54.55 64 0 0.00 KRT71 112802 genome.wustl.edu 37 12 52941658 52941658 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 12 52941658 52941658 C T SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known missense c.1087 p.E363K 0.995 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 77 9 10.34 70 0 0.00 KRT71 112802 genome.wustl.edu 37 12 52943902 52943902 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 52943902 52943902 C T SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known silent c.567 p.R189 0.992 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 61 36 37.11 102 0 0.00 KRT72 140807 genome.wustl.edu 37 12 52980737 52980737 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52980737 52980737 C G SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1338 p.V446 0.998 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 10 12 54.55 23 0 0.00 KRT72 140807 genome.wustl.edu 37 12 52980755 52980755 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 52980755 52980755 G A SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1320 p.G440 0.857 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 15 7 31.82 17 0 0.00 KRT72 140807 genome.wustl.edu 37 12 52981579 52981579 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52981579 52981579 C T SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1146 p.L382 0.997 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 35 20 36.36 44 0 0.00 KRT72 140807 genome.wustl.edu 37 12 52984671 52984671 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 52984671 52984671 G A SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1038 p.L346 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 26 14 34.15 50 0 0.00 KRT74 121391 genome.wustl.edu 37 12 52964473 52964473 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 12 52964473 52964473 C T SNP KRT74 ENST00000305620 human ensembl 70_37 -1 known missense c.988 p.E330K 0.999 pfam_F pfam_F,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 63 7 10.00 64 0 0.00 KRT74 121391 genome.wustl.edu 37 12 52967184 52967184 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 52967184 52967184 G A SNP KRT74 ENST00000305620 human ensembl 70_37 -1 known silent c.378 p.N126 0.001 NULL pfam_F,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 56 33 37.08 102 0 0.00 KRT75 9119 genome.wustl.edu 37 12 52825340 52825340 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52825340 52825340 G T SNP KRT75 ENST00000252245 human ensembl 70_37 -1 known nonsense c.857 p.S286* 0.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 20 11 35.48 53 0 0.00 KRT75 9119 genome.wustl.edu 37 12 52827903 52827903 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 52827903 52827903 G C SNP KRT75 ENST00000252245 human ensembl 70_37 -1 known silent c.186 p.L62 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 42 15 26.32 35 0 0.00 KRT76 51350 genome.wustl.edu 37 12 53162761 53162761 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53162761 53162761 G A SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known silent c.1653 p.V551 0.008 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 47 29 38.16 70 0 0.00 KRT76 51350 genome.wustl.edu 37 12 53162858 53162858 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53162858 53162858 G C SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known missense c.1556 p.S519C 0.553 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 51 28 35.44 44 0 0.00 KRT76 51350 genome.wustl.edu 37 12 53170902 53170902 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 53170902 53170902 G A SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 100 41 29.08 123 0 0.00 KRT76 51350 genome.wustl.edu 37 12 53170949 53170949 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 53170949 53170949 C T SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known missense c.127 p.A43T 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 88 13 12.87 66 0 0.00 KRT79 338785 genome.wustl.edu 37 12 53216101 53216101 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53216101 53216101 G C SNP KRT79 ENST00000549255 human ensembl 70_37 -1 putative missense c.188 p.S63C 0.006 NULL pfam_F - no_errors KRT79 HGNC ENSG00000185640 30 8 21.05 49 0 0.00 KRT79 338785 genome.wustl.edu 37 12 53227956 53227956 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53227956 53227956 C T SNP KRT79 ENST00000330553 human ensembl 70_37 -1 known missense c.89 p.R30H 0.028 NULL pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 74 28 27.18 92 0 0.00 KRT81 3887 genome.wustl.edu 37 12 52680187 52680187 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 52680187 52680187 C T SNP KRT81 ENST00000327741 human ensembl 70_37 -1 known missense c.1370 p.C457Y 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 15 11 42.31 25 0 0.00 KRT82 3888 genome.wustl.edu 37 12 52793840 52793840 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52793840 52793840 C G SNP KRT82 ENST00000257974 human ensembl 70_37 -1 known missense c.871 p.E291Q 0.999 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 42 30 41.67 55 0 0.00 KRT83 3889 genome.wustl.edu 37 12 52713041 52713041 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 52713041 52713041 G C SNP KRT83 ENST00000293670 human ensembl 70_37 -1 known missense c.492 p.I164M 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 83 51 38.06 136 0 0.00 KRT84 3890 genome.wustl.edu 37 12 52771916 52771916 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 52771916 52771916 G A SNP KRT84 ENST00000257951 human ensembl 70_37 -1 known missense c.1705 p.P569S 0.968 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 27 21 43.75 60 0 0.00 KRT84 3890 genome.wustl.edu 37 12 52778996 52778996 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 52778996 52778996 C T SNP KRT84 ENST00000257951 human ensembl 70_37 -1 known missense c.374 p.R125K 0.892 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 48 6 11.11 82 0 0.00 KRT85 3891 genome.wustl.edu 37 12 52756210 52756210 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 52756210 52756210 C T SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.1123 p.E375K 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 54 16 22.54 63 0 0.00 KRT85 3891 genome.wustl.edu 37 12 52756725 52756725 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 52756725 52756725 C G SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.990 p.E330D 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 87 53 37.86 79 0 0.00 KRT85 3891 genome.wustl.edu 37 12 52757068 52757068 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 52757068 52757068 G A SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.913 p.R305C 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 98 71 42.01 121 0 0.00 KRT85 3891 genome.wustl.edu 37 12 52758934 52758934 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52758934 52758934 C G SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.441 p.Q147H 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 38 36 48.65 62 0 0.00 KRT85 3891 genome.wustl.edu 37 12 52760950 52760950 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 52760950 52760950 G A SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known silent c.240 p.F80 0.855 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 35 40 53.33 92 0 0.00 KRT86 3892 genome.wustl.edu 37 12 52695763 52695763 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 52695763 52695763 G C SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known silent c.63 p.R21 0.902 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename ENSG00000170442 51 21 29.17 47 0 0.00 KRT86 3892 genome.wustl.edu 37 12 52699033 52699033 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 52699033 52699033 G A SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known missense c.745 p.V249I 0.056 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename ENSG00000170442 42 5 10.64 48 0 0.00 KRT86 3892 genome.wustl.edu 37 12 52699842 52699842 + Splice_Site SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 52699842 52699842 A G SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known splice_site c.1027-2 e7-2 1.000 - - - no_errors KRT86 Uniprot_genename ENSG00000170442 55 7 11.29 87 0 0.00 KRT86 3892 genome.wustl.edu 37 12 52702236 52702236 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 52702236 52702236 C G SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known missense c.1328 p.S443C 0.114 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename ENSG00000170442 29 6 17.14 38 0 0.00 KRT8P12 90133 genome.wustl.edu 37 3 160285940 160285940 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 160285940 160285940 C G SNP KRT8P12 ENST00000468527 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors KRT8P12 HGNC ENSG00000229320 94 29 23.58 62 0 0.00 KRT9 3857 genome.wustl.edu 37 17 39728212 39728212 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39728212 39728212 C G SNP KRT9 ENST00000246662 human ensembl 70_37 -1 known missense c.33 p.L11F 0.000 NULL pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 54 19 26.03 58 0 0.00 KRTAP1-3 81850 genome.wustl.edu 37 17 39190812 39190812 + Missense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 39190812 39190812 C A SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known missense c.262 p.G88C 0.514 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 139 61 30.50 167 0 0.00 KRTAP1-3 81850 genome.wustl.edu 37 17 39190875 39190875 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 39190875 39190875 C G SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known missense c.199 p.E67Q 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 62 17 21.25 92 0 0.00 KRTAP1-3 81850 genome.wustl.edu 37 17 39190875 39190875 + Nonsense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 39190875 39190875 C A SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known nonsense c.199 p.E67* 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 205 81 28.22 212 1 0.46 KRTAP10-1 386677 genome.wustl.edu 37 21 45959905 45959905 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 45959905 45959905 C G SNP KRTAP10-1 ENST00000400375 human ensembl 70_37 -1 known silent c.129 p.L43 0.600 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 106 61 36.53 163 0 0.00 KRTAP10-11 386678 genome.wustl.edu 37 21 46066404 46066404 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46066404 46066404 C G SNP KRTAP10-11 ENST00000334670 human ensembl 70_37 +1 known missense c.29 p.S10C 1.000 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 32 43 57.33 72 0 0.00 KRTAP10-11 386678 genome.wustl.edu 37 21 46066445 46066445 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46066445 46066445 G C SNP KRTAP10-11 ENST00000334670 human ensembl 70_37 +1 known missense c.70 p.E24Q 1.000 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 30 27 47.37 61 0 0.00 KRTAP10-2 386679 genome.wustl.edu 37 21 45970674 45970674 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 45970674 45970674 G C SNP KRTAP10-2 ENST00000391621 human ensembl 70_37 -1 known missense c.668 p.S223C 0.026 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 78 17 17.89 120 0 0.00 KRTAP10-3 386682 genome.wustl.edu 37 21 45977948 45977948 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 45977948 45977948 C T SNP KRTAP10-3 ENST00000391620 human ensembl 70_37 -1 known silent c.651 p.Q217 0.220 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 81 54 39.71 125 0 0.00 KRTAP10-3 386682 genome.wustl.edu 37 21 45978470 45978470 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 45978470 45978470 C T SNP KRTAP10-3 ENST00000391620 human ensembl 70_37 -1 known silent c.129 p.L43 0.203 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 35 12 25.53 69 0 0.00 KRTAP10-4 386672 genome.wustl.edu 37 21 45994648 45994648 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 45994648 45994648 C G SNP KRTAP10-4 ENST00000400374 human ensembl 70_37 +1 known nonsense c.1013 p.S338* 0.000 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 87 31 26.05 96 0 0.00 KRTAP10-4 386672 genome.wustl.edu 37 21 45994702 45994702 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 45994702 45994702 G A SNP KRTAP10-4 ENST00000400374 human ensembl 70_37 +1 known missense c.1067 p.R356K 0.294 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 65 42 39.25 102 0 0.00 KRTAP10-5 386680 genome.wustl.edu 37 21 46000241 46000241 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 46000241 46000241 G A SNP KRTAP10-5 ENST00000400372 human ensembl 70_37 -1 known missense c.215 p.S72L 0.037 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 142 42 22.70 126 0 0.00 KRTAP10-6 386674 genome.wustl.edu 37 21 46011964 46011964 + Silent SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 46011964 46011964 T C SNP KRTAP10-6 ENST00000400368 human ensembl 70_37 -1 known silent c.402 p.S134 0.250 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 38 10 20.83 25 0 0.00 KRTAP10-6 386674 genome.wustl.edu 37 21 46012207 46012207 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46012207 46012207 C G SNP KRTAP10-6 ENST00000400368 human ensembl 70_37 -1 known silent c.159 p.L53 0.841 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 47 72 59.50 100 0 0.00 KRTAP10-7 386675 genome.wustl.edu 37 21 46021247 46021247 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46021247 46021247 C T SNP KRTAP10-7 ENST00000380102 human ensembl 70_37 +1 known silent c.726 p.V242 0.932 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 112 91 44.83 158 0 0.00 KRTAP10-8 386681 genome.wustl.edu 37 21 46032136 46032136 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 46032136 46032136 C T SNP KRTAP10-8 ENST00000334662 human ensembl 70_37 +1 known missense c.119 p.S40F 0.999 pfam_PMG pfam_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 30 18 37.50 48 0 0.00 KRTAP10-9 386676 genome.wustl.edu 37 21 46047689 46047689 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 46047689 46047689 G A SNP KRTAP10-9 ENST00000397911 human ensembl 70_37 +1 known missense c.601 p.V201I 0.000 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 65 20 23.53 132 0 0.00 KRTAP11-1 337880 genome.wustl.edu 37 21 32253413 32253413 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 21 32253413 32253413 G A SNP KRTAP11-1 ENST00000332378 human ensembl 70_37 -1 known missense c.431 p.A144V 0.981 pfam_PMG pfam_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 43 20 31.75 67 0 0.00 KRTAP11-1 337880 genome.wustl.edu 37 21 32253821 32253821 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 32253821 32253821 C A SNP KRTAP11-1 ENST00000332378 human ensembl 70_37 -1 known missense c.23 p.R8I 0.759 pfam_PMG pfam_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 14 8 36.36 38 0 0.00 KRTAP12-2 353323 genome.wustl.edu 37 21 46086689 46086689 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 21 46086689 46086689 C T SNP KRTAP12-2 ENST00000360770 human ensembl 70_37 -1 known missense c.115 p.G39S 0.000 pfam_PMG pfam_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 141 21 12.80 68 0 0.00 KRTAP12-4 386684 genome.wustl.edu 37 21 46074281 46074281 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46074281 46074281 G A SNP KRTAP12-4 ENST00000391618 human ensembl 70_37 -1 known missense c.251 p.S84F 0.002 NULL NULL - no_errors KRTAP12-4 HGNC ENSG00000212933 37 22 37.29 54 0 0.00 KRTAP12-4 386684 genome.wustl.edu 37 21 46074509 46074509 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 21 46074509 46074509 G A SNP KRTAP12-4 ENST00000391618 human ensembl 70_37 -1 known missense c.23 p.S8L 0.000 NULL NULL - no_errors KRTAP12-4 HGNC ENSG00000212933 45 11 19.64 66 0 0.00 KRTAP13-1 140258 genome.wustl.edu 37 21 31768787 31768787 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 21 31768787 31768787 G C SNP KRTAP13-1 ENST00000355459 human ensembl 70_37 +1 known missense c.383 p.R128T 0.961 pfam_PMG pfam_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 40 20 33.33 61 0 0.00 KRTAP13-3 337960 genome.wustl.edu 37 21 31798199 31798199 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 31798199 31798199 G A SNP KRTAP13-3 ENST00000390690 human ensembl 70_37 -1 known missense c.32 p.S11F 0.998 pfam_PMG pfam_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 31 13 28.89 65 0 0.00 KRTAP15-1 254950 genome.wustl.edu 37 21 31812743 31812743 + Missense_Mutation SNP A A C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 21 31812743 31812743 A C SNP KRTAP15-1 ENST00000334067 human ensembl 70_37 +1 known missense c.98 p.N33T 0.328 pfam_PMG pfam_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 143 23 13.77 67 0 0.00 KRTAP16-1 100505753 genome.wustl.edu 37 17 39465098 39465098 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 39465098 39465098 G A SNP KRTAP16-1 ENST00000391352 human ensembl 70_37 -1 known silent c.408 p.A136 0.226 NULL NULL - no_errors KRTAP16-1 HGNC ENSG00000212657 34 27 44.26 64 0 0.00 KRTAP19-8 728299 genome.wustl.edu 37 21 32410600 32410600 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 32410600 32410600 C T SNP KRTAP19-8 ENST00000382822 human ensembl 70_37 -1 known missense c.163 p.G55R 0.061 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-8 HGNC ENSG00000206102 67 17 20.24 65 0 0.00 KRTAP2-1 81872 genome.wustl.edu 37 17 39203143 39203143 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 39203143 39203143 G A SNP KRTAP2-1 ENST00000391419 human ensembl 70_37 -1 known missense c.377 p.S126F 0.030 NULL pfam_Keratin-assoc - no_errors KRTAP2-1 HGNC ENSG00000212725 202 25 11.01 160 0 0.00 KRTAP2-2 728279 genome.wustl.edu 37 17 39211182 39211182 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39211182 39211182 C T SNP KRTAP2-2 ENST00000542910 human ensembl 70_37 -1 known nonsense c.282 p.W94* 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 53 10 15.87 28 0 0.00 KRTAP20-1 337975 genome.wustl.edu 37 21 31988847 31988847 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 21 31988847 31988847 G A SNP KRTAP20-1 ENST00000334664 human ensembl 70_37 +1 known missense c.74 p.R25H 0.006 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-1 HGNC ENSG00000244624 27 10 27.03 113 0 0.00 KRTAP20-1 337975 genome.wustl.edu 37 21 31988907 31988907 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 31988907 31988907 C G SNP KRTAP20-1 ENST00000334664 human ensembl 70_37 +1 known missense c.134 p.S45C 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-1 HGNC ENSG00000244624 103 17 14.05 74 0 0.00 KRTAP21-3 100288323 genome.wustl.edu 37 21 32090931 32090931 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 32090931 32090931 C T SNP KRTAP21-3 ENST00000444335 human ensembl 70_37 -1 known silent c.147 p.L49 0.000 NULL NULL - no_errors KRTAP21-3 HGNC ENSG00000231068 37 9 19.57 49 0 0.00 KRTAP26-1 388818 genome.wustl.edu 37 21 31691800 31691800 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 21 31691800 31691800 G A SNP KRTAP26-1 ENST00000360542 human ensembl 70_37 -1 known missense c.554 p.P185L 0.999 pfam_PMG pfam_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 51 12 19.05 49 0 0.00 KRTAP27-1 643812 genome.wustl.edu 37 21 31709770 31709770 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 21 31709770 31709770 C T SNP KRTAP27-1 ENST00000382835 human ensembl 70_37 -1 known missense c.217 p.D73N 0.000 pfam_PMG pfam_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 40 27 40.30 51 0 0.00 KRTAP27-1 643812 genome.wustl.edu 37 21 31709821 31709821 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 31709821 31709821 C T SNP KRTAP27-1 ENST00000382835 human ensembl 70_37 -1 known missense c.166 p.E56K 0.008 pfam_PMG pfam_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 66 16 19.51 84 0 0.00 KRTAP4-1 85285 genome.wustl.edu 37 17 39341030 39341030 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 39341030 39341030 C T SNP KRTAP4-1 ENST00000398472 human ensembl 70_37 -1 known missense c.77 p.R26H 0.021 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 165 70 29.66 158 0 0.00 KRTAP4-12 83755 genome.wustl.edu 37 17 39279950 39279950 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 39279950 39279950 C T SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.425 p.R142H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 195 46 18.93 139 0 0.00 KRTAP4-12 83755 genome.wustl.edu 37 17 39280025 39280025 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 39280025 39280025 C T SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.350 p.R117H 0.002 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 149 27 15.17 164 0 0.00 KRTAP4-12 83755 genome.wustl.edu 37 17 39280341 39280341 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 39280341 39280341 C G SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.34 p.D12H 0.970 NULL pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 103 18 14.88 113 0 0.00 KRTAP4-12 83755 genome.wustl.edu 37 17 39280341 39280341 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 39280341 39280341 C G SNP KRTAP4-12 ENST00000394014 human ensembl 70_37 -1 known missense c.34 p.D12H 0.970 NULL pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 31 4 11.43 31 0 0.00 KRTAP4-6 81871 genome.wustl.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 17 39296167 39296167 A G SNP KRTAP4-6 ENST00000345847 human ensembl 70_37 -1 known silent c.573 p.I191 0.075 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 13 6 31.58 11 0 0.00 KRTAP4-6 81871 genome.wustl.edu 37 17 39296450 39296450 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 39296450 39296450 G A SNP KRTAP4-6 ENST00000345847 human ensembl 70_37 -1 known missense c.290 p.S97F 0.001 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 140 31 18.13 239 0 0.00 KRTAP4-7 100132476 genome.wustl.edu 37 17 39240673 39240673 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39240673 39240673 C G SNP KRTAP4-7 ENST00000391417 human ensembl 70_37 +1 known missense c.215 p.T72R 0.004 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 233 27 10.38 301 0 0.00 KRTAP4-8 728224 genome.wustl.edu 37 17 39253891 39253891 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 39253891 39253891 C T SNP KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known missense c.446 p.C149Y 0.977 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 62 39 37.86 131 0 0.00 KRTAP4-8 728224 genome.wustl.edu 37 17 39254141 39254141 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 39254141 39254141 G A SNP KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known missense c.196 p.R66C 0.001 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 70 62 46.97 123 0 0.00 KRTAP4-8 728224 genome.wustl.edu 37 17 39254335 39254336 + Frame_Shift_Ins INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39254335 39254336 - T INS KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 186 29 13.49 209 1 0.48 KRTAP5-2 440021 genome.wustl.edu 37 11 1619458 1619458 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1619458 1619458 C G SNP KRTAP5-2 ENST00000412090 human ensembl 70_37 -1 known missense c.23 p.R8T 0.035 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 81 106 56.68 193 1 0.52 KRTAP5-3 387266 genome.wustl.edu 37 11 1629043 1629043 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 1629043 1629043 T C SNP KRTAP5-3 ENST00000399685 human ensembl 70_37 -1 known silent c.573 p.K191 0.000 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 7 4 36.36 14 0 0.00 KRTAP5-3 387266 genome.wustl.edu 37 11 1629350 1629350 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1629350 1629350 G C SNP KRTAP5-3 ENST00000399685 human ensembl 70_37 -1 known missense c.266 p.S89C 0.998 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 83 25 22.94 92 0 0.00 KRTAP5-5 439915 genome.wustl.edu 37 11 1651178 1651178 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 1651178 1651178 G A SNP KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known silent c.108 p.G36 0.998 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 56 8 12.50 90 0 0.00 KRTAP5-5 439915 genome.wustl.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 GGCTGTGGA GGCTGTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 1651191 1651199 GGCTGTGGA - DEL KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known in_frame_del c.121_129 p.GCG44in_frame_del 0.036:0.152:0.136:0.093:0.018:0.001:0.874:0.883:0.301 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 38 9 19.15 69 0 0.00 KRTAP5-5 439915 genome.wustl.edu 37 11 1651625 1651625 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 1651625 1651625 G A SNP KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known silent c.555 p.Q185 0.483 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 4 5 55.56 8 0 0.00 KRTAP5-8 57830 genome.wustl.edu 37 11 71249659 71249659 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 71249659 71249659 G C SNP KRTAP5-8 ENST00000398534 human ensembl 70_37 +1 known missense c.558 p.K186N 0.995 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 171 105 38.04 270 0 0.00 KRTAP5-9 3846 genome.wustl.edu 37 11 71259966 71259966 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 71259966 71259966 G T SNP KRTAP5-9 ENST00000528743 human ensembl 70_37 +1 known missense c.263 p.C88F 0.862 NULL NULL - no_errors KRTAP5-9 HGNC ENSG00000254997 76 40 34.48 154 0 0.00 KRTAP9-3 83900 genome.wustl.edu 37 17 39389159 39389159 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39389159 39389159 G A SNP KRTAP9-3 ENST00000411528 human ensembl 70_37 +1 known missense c.406 p.E136K 0.092 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 88 26 22.81 98 0 0.00 KRTAP9-8 83901 genome.wustl.edu 37 17 39394399 39394399 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 39394399 39394399 C G SNP KRTAP9-8 ENST00000254072 human ensembl 70_37 +1 known missense c.96 p.C32W 0.772 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 83 11 11.70 87 0 0.00 KRTCAP2 200185 genome.wustl.edu 37 1 155142356 155142356 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155142356 155142356 G A SNP KRTCAP2 ENST00000480091 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KRTCAP2 HGNC ENSG00000163463 17 10 37.04 32 0 0.00 KSR1 8844 genome.wustl.edu 37 17 25877623 25877623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25877623 25877623 G C SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.261 p.Q87H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 33 18 35.29 42 0 0.00 KSR1 8844 genome.wustl.edu 37 17 25919586 25919586 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25919586 25919586 C T SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known silent c.1233 p.I411 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 68 33 32.67 86 0 0.00 KSR1 8844 genome.wustl.edu 37 17 25932695 25932695 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 25932695 25932695 G A SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.1916 p.R639H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 8 4 30.77 14 0 0.00 KSR1 8844 genome.wustl.edu 37 17 25932744 25932744 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 25932744 25932744 G C SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.1965 p.K655N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 16 10 37.04 24 0 0.00 KSR2 283455 genome.wustl.edu 37 12 117914376 117914376 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 117914376 117914376 C T SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.2475 p.Q825 0.992 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 39 21 35.00 77 0 0.00 KSR2 283455 genome.wustl.edu 37 12 117993045 117993045 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 117993045 117993045 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.1447 p.L483 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 49 20 28.99 63 0 0.00 KSR2 283455 genome.wustl.edu 37 12 118199001 118199001 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 118199001 118199001 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.801 p.I267 0.268 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 17 12 41.38 33 0 0.00 KSR2 283455 genome.wustl.edu 37 12 118298123 118298123 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 118298123 118298123 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.294 p.I98 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 18 3 14.29 30 0 0.00 KTI12 112970 genome.wustl.edu 37 1 52498428 52498428 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 52498428 52498428 C T SNP KTI12 ENST00000371614 human ensembl 70_37 -1 known missense c.1006 p.E336K 1.000 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12 - no_errors KTI12 HGNC ENSG00000198841 20 14 41.18 38 0 0.00 KTI12 112970 genome.wustl.edu 37 1 52499064 52499064 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 52499064 52499064 C T SNP KTI12 ENST00000371614 human ensembl 70_37 -1 known missense c.370 p.E124K 0.001 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12 - no_errors KTI12 HGNC ENSG00000198841 24 11 31.43 36 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56078923 56078923 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 56078923 56078923 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.157 p.D53H 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 14 5 26.32 26 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56083234 56083234 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 56083234 56083234 G A SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known splice_site c.524-1 e2-1 1.000 - - - no_errors KTN1 HGNC ENSG00000126777 17 7 28.00 42 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56103923 56103923 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 56103923 56103923 G A SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known silent c.1557 p.Q519 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 67 29 30.21 55 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56103978 56103978 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 56103978 56103978 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1612 p.D538H 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 62 29 31.87 51 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56103991 56103991 + Nonsense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 14 56103991 56103991 C G SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known nonsense c.1625 p.S542* 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 25 14 35.90 35 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56104059 56104059 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 56104059 56104059 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1693 p.E565Q 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 14 7 33.33 19 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56106701 56106701 + Missense_Mutation SNP A A T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 56106701 56106701 A T SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1894 p.S632C 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 33 21 38.89 33 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56119797 56119797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 56119797 56119797 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.2757 p.L919F 0.656 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 19 17 47.22 21 0 0.00 KTN1 3895 genome.wustl.edu 37 14 56139951 56139951 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 56139951 56139951 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.3749 p.R1250T 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 19 3 13.64 16 0 0.00 KU-MEL-3 497048 genome.wustl.edu 37 6 4611411 4611411 + RNA SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 4611411 4611411 A C SNP KU-MEL-3 ENST00000380106 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-529N6.1 Clone_based_vega_gene ENSG00000205444 42 10 19.23 35 0 0.00 KY 339855 genome.wustl.edu 37 3 134366309 134366309 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 134366309 134366309 C T SNP KY ENST00000423778 human ensembl 70_37 -1 known missense c.167 p.R56K 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 52 26 33.33 55 0 0.00 KY 339855 genome.wustl.edu 37 3 134369692 134369692 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 134369692 134369692 C G SNP KY ENST00000423778 human ensembl 70_37 -1 known silent c.111 p.P37 0.996 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 13 10 43.48 37 0 0.00 KYNU 8942 genome.wustl.edu 37 2 143799741 143799741 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 143799741 143799741 G A SNP KYNU ENST00000264170 human ensembl 70_37 +1 known silent c.1398 p.*466 0.000 NULL pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 23 17 42.50 29 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153128962 153128962 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 153128962 153128962 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.3506 p.P1169L 0.996 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 50 9 15.25 48 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153132162 153132162 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 153132162 153132162 G T SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known silent c.2379 p.V793 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 41 28 40.58 146 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153133896 153133896 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 153133896 153133896 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known nonsense c.1570 p.Q524* 0.158 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 56 93 62.42 90 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153133907 153133907 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 153133907 153133907 G C SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.1559 p.T520S 0.998 pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 81 11 11.96 65 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153136342 153136342 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 153136342 153136342 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known silent c.603 p.L201 0.003 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 71 14 16.47 100 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153137669 153137669 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153137669 153137669 C T SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.344 p.R115H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 11 10 47.62 33 0 0.00 L1CAM 3897 genome.wustl.edu 37 X 153138085 153138085 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153138085 153138085 G C SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.165 p.I55M 0.988 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 74 17 18.68 108 1 0.92 L1TD1 54596 genome.wustl.edu 37 1 62672545 62672545 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 62672545 62672545 G C SNP L1TD1 ENST00000498273 human ensembl 70_37 +1 known missense c.245 p.G82A 0.001 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 18 9 33.33 29 0 0.00 L2HGDH 79944 genome.wustl.edu 37 14 50760949 50760949 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 50760949 50760949 C T SNP L2HGDH ENST00000267436 human ensembl 70_37 -1 known missense c.424 p.E142K 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 19 9 32.14 32 0 0.00 L3MBTL1 26013 genome.wustl.edu 37 20 42159421 42159421 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 42159421 42159421 C T SNP L3MBTL1 ENST00000497347 human ensembl 70_37 +1 known rna NULL NULL 0.968 - - - no_errors L3MBTL1 HGNC ENSG00000185513 14 4 22.22 27 0 0.00 L3MBTL1 26013 genome.wustl.edu 37 20 42163413 42163413 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 42163413 42163413 G T SNP L3MBTL1 ENST00000483547 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors L3MBTL1 HGNC ENSG00000185513 29 4 12.12 57 0 0.00 L3MBTL2 83746 genome.wustl.edu 37 22 41605844 41605844 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 41605844 41605844 G A SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known missense c.169 p.E57K 0.670 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 31 12 27.91 53 0 0.00 L3MBTL2 83746 genome.wustl.edu 37 22 41617260 41617260 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 41617260 41617260 C T SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known missense c.911 p.S304F 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 31 23 42.59 51 0 0.00 L3MBTL2 83746 genome.wustl.edu 37 22 41621884 41621884 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 41621884 41621884 C T SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known silent c.1443 p.S481 0.998 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 28 25 47.17 48 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130363855 130363855 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 130363855 130363855 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.11 p.S4Y 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 21 24 53.33 36 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130374065 130374065 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 130374065 130374065 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.511 p.R171 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 39 19 32.20 65 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130389552 130389552 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 130389552 130389552 G C SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.1078 p.E360Q 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 27 7 20.59 36 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130392142 130392142 + Silent SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 130392142 130392142 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.1114 p.R372 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 70 13 15.66 103 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130392189 130392189 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 130392189 130392189 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.1161 p.F387L 0.999 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 135 43 24.16 135 0 0.00 L3MBTL3 84456 genome.wustl.edu 37 6 130399706 130399706 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 130399706 130399706 T C SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.1248 p.C416 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 94 44 31.88 223 0 0.00 L3MBTL4 91133 genome.wustl.edu 37 18 6238035 6238035 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 6238035 6238035 C T SNP L3MBTL4 ENST00000284898 human ensembl 70_37 -1 known missense c.712 p.D238N 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 29 7 19.44 64 0 0.00 LACC1 144811 genome.wustl.edu 37 13 44455579 44455579 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 44455579 44455579 C T SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known missense c.458 p.T153I 0.181 NULL pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 15 3 16.67 13 0 0.00 LACC1 144811 genome.wustl.edu 37 13 44455648 44455648 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 44455648 44455648 G A SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known missense c.527 p.G176E 1.000 superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 86 24 21.82 95 0 0.00 LACC1 144811 genome.wustl.edu 37 13 44462906 44462906 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 44462906 44462906 T G SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known silent c.921 p.T307 0.919 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 40 8 16.67 83 0 0.00 LACE1 246269 genome.wustl.edu 37 6 108841001 108841001 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 108841001 108841001 G C SNP LACE1 ENST00000368977 human ensembl 70_37 +1 known missense c.1305 p.L435F 1.000 NULL pfam_ATPase_AFG1-like - no_errors LACE1 HGNC ENSG00000135537 17 15 46.88 31 0 0.00 LACRT 90070 genome.wustl.edu 37 12 55027018 55027018 + Splice_Site SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 55027018 55027018 C A SNP LACRT ENST00000257867 human ensembl 70_37 -1 known splice_site c.59-1 e2-1 0.674 - - - no_errors LACRT HGNC ENSG00000135413 29 11 27.50 28 0 0.00 LACTB 114294 genome.wustl.edu 37 15 63433478 63433478 + Splice_Site SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 63433478 63433478 G C SNP LACTB ENST00000261893 human ensembl 70_37 +1 known splice_site c.1119-1 e6-1 1.000 - - - no_errors LACTB HGNC ENSG00000103642 21 5 19.23 45 0 0.00 LACTB 114294 genome.wustl.edu 37 15 63433500 63433500 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 63433500 63433500 G C SNP LACTB ENST00000261893 human ensembl 70_37 +1 known missense c.1140 p.K380N 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 32 11 25.58 38 0 0.00 LACTBL1 646262 genome.wustl.edu 37 1 23279692 23279692 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 23279692 23279692 G A SNP LACTBL1 ENST00000426928 human ensembl 70_37 -1 putative silent c.1485 p.L495 0.000 NULL pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTBL1 HGNC ENSG00000215906 23 17 42.50 49 0 0.00 LACTBL1 646262 genome.wustl.edu 37 1 23285272 23285272 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 23285272 23285272 G A SNP LACTBL1 ENST00000426928 human ensembl 70_37 -1 putative silent c.459 p.A153 0.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTBL1 HGNC ENSG00000215906 7 13 65.00 37 0 0.00 LAD1 3898 genome.wustl.edu 37 1 201354847 201354847 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201354847 201354847 G A SNP LAD1 ENST00000367313 human ensembl 70_37 -1 known silent c.1155 p.P385 1.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 73 30 29.13 129 0 0.00 LAD1 3898 genome.wustl.edu 37 1 201356002 201356004 + In_Frame_Del DEL CCA CCA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201356002 201356004 CCA - DEL LAD1 ENST00000367313 human ensembl 70_37 -1 known in_frame_del c.529_527 p.V176in_frame_del 0.000:0.000:0.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 34 4 10.53 35 0 0.00 LAIR1 3903 genome.wustl.edu 37 19 54868125 54868125 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 54868125 54868125 G C SNP LAIR1 ENST00000391742 human ensembl 70_37 -1 known silent c.558 p.L186 0.102 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 41 21 33.87 69 0 0.00 LAIR1 3903 genome.wustl.edu 37 19 54872754 54872754 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 54872754 54872754 C G SNP LAIR1 ENST00000391742 human ensembl 70_37 -1 known missense c.133 p.V45L 0.053 smart_Ig_sub smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 167 45 21.23 209 0 0.00 LAIR2 3904 genome.wustl.edu 37 19 55019207 55019207 + Missense_Mutation SNP T T C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 55019207 55019207 T C SNP LAIR2 ENST00000301202 human ensembl 70_37 +1 known missense c.172 p.F58L 0.002 smart_Ig_sub smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 19 14 42.42 29 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 6977743 6977743 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 18 6977743 6977743 G A SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.6328 p.R2110C 1.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 16 13 44.83 34 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 6980553 6980553 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 6980553 6980553 C A SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known nonsense c.5974 p.E1992* 0.779 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 21 19 47.50 65 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 6983109 6983109 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 6983109 6983109 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.5785 p.E1929K 0.000 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 76 31 28.97 79 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 7009317 7009317 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 7009317 7009317 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.3922 p.E1308K 0.398 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 126 32 20.25 159 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 7011412 7011412 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 7011412 7011412 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.3574 p.E1192K 0.022 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 16 11 40.74 42 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 7043261 7043261 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 7043261 7043261 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.1120 p.E374K 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 70 23 24.73 87 0 0.00 LAMA1 284217 genome.wustl.edu 37 18 7049150 7049150 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 7049150 7049150 C G SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.695 p.R232T 0.941 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 102 48 32.00 205 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129571353 129571353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129571353 129571353 T G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.1879 p.L627V 0.994 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 27 6 18.18 52 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129573365 129573365 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129573365 129573365 T G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.2021 p.F674C 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 8 5 38.46 34 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129612791 129612791 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 129612791 129612791 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.2782 p.E928K 0.878 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 19 22 53.66 33 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129618862 129618862 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 129618862 129618862 C T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.2889 p.G963 0.484 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 33 12 26.67 69 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129636636 129636636 + Nonsense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 129636636 129636636 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known nonsense c.3571 p.E1191* 0.978 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 49 10 16.95 72 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129704375 129704375 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 129704375 129704375 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.5068 p.E1690K 1.000 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 19 5 20.83 18 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129762061 129762061 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 129762061 129762061 C G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.6186 p.L2062 0.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 53 7 11.67 61 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129762132 129762132 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 129762132 129762132 C G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.6257 p.P2086R 0.999 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 36 5 12.20 28 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129777516 129777516 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 129777516 129777516 G C SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.6744 p.L2248 0.952 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 71 44 37.61 84 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129785560 129785560 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129785560 129785560 C T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7118 p.S2373L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 31 13 29.55 76 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129786308 129786308 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 129786308 129786308 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known nonsense c.7174 p.E2392* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 13 3 18.75 27 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129802568 129802568 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 129802568 129802568 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7733 p.R2578Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 59 11 15.71 52 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129807751 129807751 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 129807751 129807751 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7882 p.V2628L 0.020 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 34 4 10.53 48 0 0.00 LAMA2 3908 genome.wustl.edu 37 6 129828747 129828747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 129828747 129828747 G C SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.8817 p.Q2939H 0.976 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 25 12 32.43 23 0 0.00 LAMA3 3909 genome.wustl.edu 37 18 21364001 21364001 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 21364001 21364001 C T SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known silent c.1483 p.L495 0.001 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 74 53 41.73 81 0 0.00 LAMA3 3909 genome.wustl.edu 37 18 21390425 21390425 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 21390425 21390425 G C SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known missense c.1699 p.D567H 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 46 29 38.67 105 0 0.00 LAMA3 3909 genome.wustl.edu 37 18 21453031 21453031 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 18 21453031 21453031 C T SNP LAMA3 ENST00000269217 human ensembl 70_37 +1 known missense c.23 p.S8L 0.001 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_STAT_TF_coiled-coil,smart_EGF_laminin,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA3 HGNC ENSG00000053747 38 19 33.33 49 0 0.00 LAMA3 3909 genome.wustl.edu 37 18 21492846 21492846 + Splice_Site SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 21492846 21492846 G A SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known splice_site c.7329+1 e56+1 1.000 - - - no_errors LAMA3 HGNC ENSG00000053747 74 13 14.94 98 0 0.00 LAMA3 3909 genome.wustl.edu 37 18 21511047 21511047 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 21511047 21511047 C G SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known missense c.8458 p.L2820V 0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 43 15 25.86 44 0 0.00 LAMA4 3910 genome.wustl.edu 37 6 112439102 112439102 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 112439102 112439102 C G SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known splice_site c.4822-1 e34-1 1.000 - - - no_errors LAMA4 HGNC ENSG00000112769 82 27 24.77 115 0 0.00 LAMA4 3910 genome.wustl.edu 37 6 112462006 112462006 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 112462006 112462006 C T SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known missense c.2932 p.E978K 0.836 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 20 9 31.03 24 0 0.00 LAMA4 3910 genome.wustl.edu 37 6 112535211 112535211 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 112535211 112535211 G C SNP LAMA4 ENST00000431543 human ensembl 70_37 -1 putative missense c.358 p.Q120E 0.032 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 13 8 38.10 25 0 0.00 LAMA4 3910 genome.wustl.edu 37 6 112575049 112575049 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 112575049 112575049 C G SNP LAMA4 ENST00000368638 human ensembl 70_37 -1 known missense c.304 p.E102Q 0.000 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 22 12 35.29 29 0 0.00 LAMA4 3910 genome.wustl.edu 37 6 112575244 112575244 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 112575244 112575244 C T SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 18 7 28.00 21 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60886121 60886121 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 20 60886121 60886121 C T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.10118 p.R3373Q 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 20 7 25.93 28 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60889699 60889699 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 20 60889699 60889699 G C SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.8279 p.T2760S 1.000 pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 22 9 29.03 42 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60893630 60893631 + Frame_Shift_Ins INS - - CGGT TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 60893630 60893631 - CGGT INS LAMA5 ENST00000252999 human ensembl 70_37 -1 known frame_shift_ins c.7119_7118 p.L2374fs 0.657:0.009 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 47 8 14.55 70 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60899537 60899537 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 60899537 60899537 C G SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5603 p.G1868A 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_TNFR/NGFR_Cys_rich_reg pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 16 5 23.81 18 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60901971 60901971 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 60901971 60901971 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5164 p.R1722W 0.995 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 110 21 16.03 85 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60901971 60901971 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 60901971 60901971 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5164 p.R1722W 0.995 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 65 15 18.52 24 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60904023 60904023 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 60904023 60904023 C T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.4324 p.E1442K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 55 34 38.20 70 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60905569 60905569 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 60905569 60905569 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known silent c.3954 p.L1318 0.015 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 58 42 42.00 100 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60909651 60909651 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 60909651 60909651 G T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.2509 p.L837M 0.642 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 12 3 20.00 21 0 0.00 LAMA5 3911 genome.wustl.edu 37 20 60928291 60928291 + Missense_Mutation SNP T T C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 60928291 60928291 T C SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.467 p.Y156C 0.999 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 63 14 18.18 57 0 0.00 LAMB1 3912 genome.wustl.edu 37 7 107577713 107577713 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 107577713 107577713 A G SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known silent c.3771 p.I1257 1.000 superfamily_t-SNARE pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 70 43 38.05 81 0 0.00 LAMB1 3912 genome.wustl.edu 37 7 107591608 107591608 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 107591608 107591608 C G SNP LAMB1 ENST00000479448 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors LAMB1 HGNC ENSG00000091136 21 10 32.26 20 0 0.00 LAMB1 3912 genome.wustl.edu 37 7 107621098 107621098 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 107621098 107621098 C T SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known missense c.835 p.E279K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 25 6 19.35 44 0 0.00 LAMB1 3912 genome.wustl.edu 37 7 107626528 107626528 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 107626528 107626528 C T SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known silent c.615 p.V205 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 67 27 28.72 60 0 0.00 LAMB1 3912 genome.wustl.edu 37 7 107626622 107626622 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 107626622 107626622 C G SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known missense c.610 p.E204Q 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 39 18 31.58 50 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49160390 49160390 + Silent SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49160390 49160390 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.4320 p.L1440 0.998 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 13 10 43.48 34 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49160390 49160390 + Silent SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49160390 49160390 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.4320 p.L1440 0.998 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 16 12 42.86 35 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49160436 49160436 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 49160436 49160436 C G SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.4274 p.G1425A 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 24 8 25.00 32 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49160566 49160566 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 49160566 49160566 A G SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.4223 p.L1408P 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 16 10 38.46 64 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49161197 49161197 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49161197 49161197 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.3761 p.S1254F 0.935 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 43 9 17.31 58 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49161416 49161416 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49161416 49161416 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.3542 p.S1181L 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 29 13 30.95 26 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49162313 49162313 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49162313 49162313 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known nonsense c.2930 p.S977* 0.003 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 32 8 20.00 33 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49162772 49162772 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49162772 49162772 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.2634 p.V878 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 34 6 14.63 48 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49163434 49163434 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49163434 49163434 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.2310 p.I770 0.998 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 42 12 22.22 59 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49166205 49166205 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49166205 49166205 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.1779 p.S593 0.418 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 18 4 18.18 28 0 0.00 LAMB2 3913 genome.wustl.edu 37 3 49166206 49166206 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49166206 49166206 G T SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.1778 p.S593Y 0.513 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 19 3 13.64 28 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209788694 209788694 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 209788694 209788694 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.3441 p.L1147 0.946 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 19 21 52.50 29 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209789963 209789963 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 209789963 209789963 C G SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.3235 p.E1079Q 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 57 15 20.83 75 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209791296 209791296 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 209791296 209791296 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.3007 p.G1003S 0.966 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 36 4 10.00 48 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209791342 209791342 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 209791342 209791342 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.2961 p.L987 0.985 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 76 20 20.83 104 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209799070 209799070 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 209799070 209799070 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.1899 p.Q633 0.855 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 43 13 23.21 55 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209807944 209807944 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 209807944 209807944 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.412 p.D138N 0.999 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 53 8 13.11 37 0 0.00 LAMB3 3914 genome.wustl.edu 37 1 209823454 209823454 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 209823454 209823454 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.38 p.G13D 0.629 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 18 5 21.74 32 0 0.00 LAMB4 22798 genome.wustl.edu 37 7 107706884 107706884 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 107706884 107706884 C T SNP LAMB4 ENST00000205386 human ensembl 70_37 -1 known missense c.2608 p.E870K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 35 8 18.60 30 0 0.00 LAMC1 3915 genome.wustl.edu 37 1 183077436 183077436 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 183077436 183077436 G C SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.749 p.R250T 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 40 55 57.89 83 0 0.00 LAMC1 3915 genome.wustl.edu 37 1 183090971 183090971 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 183090971 183090971 G C SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.2104 p.E702Q 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 20 18 47.37 62 0 0.00 LAMC1 3915 genome.wustl.edu 37 1 183102564 183102564 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 183102564 183102564 C T SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.3728 p.S1243L 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 24 18 42.86 22 0 0.00 LAMC1 3915 genome.wustl.edu 37 1 183104287 183104287 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 183104287 183104287 G A SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known silent c.4110 p.L1370 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 32 5 13.51 21 0 0.00 LAMC1 3915 genome.wustl.edu 37 1 183111854 183111854 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 183111854 183111854 C T SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.4759 p.R1587C 0.941 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 107 21 16.03 100 0 0.00 LAMC2 3918 genome.wustl.edu 37 1 183177044 183177044 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 183177044 183177044 G C SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known missense c.108 p.Q36H 0.996 pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 37 13 26.00 53 0 0.00 LAMC2 3918 genome.wustl.edu 37 1 183177098 183177098 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 183177098 183177098 C G SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known silent c.162 p.L54 1.000 pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 30 19 38.78 43 0 0.00 LAMC2 3918 genome.wustl.edu 37 1 183206490 183206490 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206490 183206490 G T SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known nonsense c.2605 p.E869* 0.617 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 40 13 24.53 64 0 0.00 LAMC2 3918 genome.wustl.edu 37 1 183206632 183206632 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206632 183206632 G A SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known missense c.2747 p.G916E 0.036 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 37 9 19.57 39 0 0.00 LAMC2 3918 genome.wustl.edu 37 1 183206633 183206633 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206633 183206633 G A SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known silent c.2748 p.G916 0.332 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 38 9 19.15 38 0 0.00 LAMC3 10319 genome.wustl.edu 37 9 133911651 133911651 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133911651 133911651 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.908 p.R303H 0.175 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 13 6 31.58 47 0 0.00 LAMC3 10319 genome.wustl.edu 37 9 133914593 133914593 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 133914593 133914593 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.1241 p.R414H 0.994 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 22 14 38.89 21 0 0.00 LAMC3 10319 genome.wustl.edu 37 9 133924412 133924412 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 133924412 133924412 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.1525 p.E509K 0.002 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 29 4 12.12 58 0 0.00 LAMC3 10319 genome.wustl.edu 37 9 133962880 133962880 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 133962880 133962880 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known silent c.4248 p.L1416 0.990 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 16 26 61.90 43 0 0.00 LAMC3 10319 genome.wustl.edu 37 9 133963004 133963004 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 133963004 133963004 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.4372 p.E1458K 0.277 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 22 23 51.11 32 0 0.00 LAMP1 3916 genome.wustl.edu 37 13 113975993 113975993 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 13 113975993 113975993 C G SNP LAMP1 ENST00000332556 human ensembl 70_37 +1 known missense c.1065 p.F355L 0.983 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 63 32 33.68 102 0 0.00 LAMP2 3920 genome.wustl.edu 37 X 119581704 119581704 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 119581704 119581704 G A SNP LAMP2 ENST00000434600 human ensembl 70_37 -1 known nonsense c.733 p.Q245* 0.293 pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 90 21 18.92 79 0 0.00 LAMP3 27074 genome.wustl.edu 37 3 182880495 182880495 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 182880495 182880495 C G SNP LAMP3 ENST00000486686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAMP3 HGNC ENSG00000078081 82 30 26.79 36 0 0.00 LAMP5 24141 genome.wustl.edu 37 20 9496676 9496676 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 9496676 9496676 G C SNP LAMP5 ENST00000246070 human ensembl 70_37 +1 known missense c.267 p.L89F 0.976 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC ENSG00000125869 28 26 48.15 35 0 0.00 LAMTOR1 55004 genome.wustl.edu 37 11 71814247 71814247 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71814247 71814247 C G SNP LAMTOR1 ENST00000278671 human ensembl 70_37 -1 known missense c.24 p.E8D 0.995 NULL NULL - no_errors LAMTOR1 HGNC ENSG00000149357 11 3 21.43 19 0 0.00 LAMTOR2 28956 genome.wustl.edu 37 1 156024646 156024646 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156024646 156024646 C T SNP LAMTOR2 ENST00000489664 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR2 HGNC ENSG00000116586 41 10 19.61 26 0 0.00 LAMTOR2 28956 genome.wustl.edu 37 1 156028174 156028174 + Nonsense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 156028174 156028174 G T SNP LAMTOR2 ENST00000368302 human ensembl 70_37 +1 known nonsense c.427 p.E143* 0.021 NULL pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors LAMTOR2 HGNC ENSG00000116586 34 4 10.53 23 0 0.00 LAMTOR4 389541 genome.wustl.edu 37 7 99746570 99746570 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 99746570 99746570 G A SNP LAMTOR4 ENST00000460732 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR4 HGNC ENSG00000188186 92 40 30.08 112 0 0.00 LAMTOR4 389541 genome.wustl.edu 37 7 99747121 99747121 + Splice_Site SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 99747121 99747121 G A SNP LAMTOR4 ENST00000341942 human ensembl 70_37 +1 known splice_site c.4-1 e2-1 0.998 - - - no_errors LAMTOR4 HGNC ENSG00000188186 30 23 43.40 62 0 0.00 LAMTOR4 389541 genome.wustl.edu 37 7 99747167 99747167 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 99747167 99747167 G C SNP LAMTOR4 ENST00000341942 human ensembl 70_37 +1 known missense c.49 p.G17R 0.801 NULL NULL - no_errors LAMTOR4 HGNC ENSG00000188186 49 22 30.99 86 0 0.00 LAMTOR4 389541 genome.wustl.edu 37 7 99751273 99751273 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 99751273 99751273 G A SNP LAMTOR4 ENST00000441173 human ensembl 70_37 +1 putative missense c.335 p.G112E 0.028 NULL NULL - no_errors LAMTOR4 HGNC ENSG00000188186 30 5 14.29 41 0 0.00 LAMTOR5 10542 genome.wustl.edu 37 1 110950260 110950260 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 110950260 110950260 C G SNP LAMTOR5 ENST00000256644 human ensembl 70_37 -1 known missense c.229 p.E77Q 0.000 NULL NULL - no_errors LAMTOR5 HGNC ENSG00000134248 71 13 15.48 64 0 0.00 LAMTOR5-AS1 101410535 genome.wustl.edu 37 1 110968536 110968536 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 110968536 110968536 C T SNP LAMTOR5-AS1 ENST00000596890 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR5-AS1 HGNC ENSG00000224699 27 25 48.08 29 0 0.00 LANCL1 10314 genome.wustl.edu 37 2 211302514 211302514 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 211302514 211302514 G A SNP LANCL1 ENST00000233714 human ensembl 70_37 -1 known missense c.773 p.S258F 0.997 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 27 25 48.08 36 0 0.00 LANCL2 55915 genome.wustl.edu 37 7 55492961 55492961 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 55492961 55492961 G A SNP LANCL2 ENST00000254770 human ensembl 70_37 +1 known silent c.1023 p.E341 0.998 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 37 22 37.29 78 0 0.00 LANCL2 55915 genome.wustl.edu 37 7 55499004 55499004 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 55499004 55499004 G C SNP LANCL2 ENST00000254770 human ensembl 70_37 +1 known missense c.1344 p.K448N 0.285 NULL pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 17 10 37.04 8 0 0.00 LANCL3 347404 genome.wustl.edu 37 X 37431522 37431522 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 37431522 37431522 C T SNP LANCL3 ENST00000378619 human ensembl 70_37 +1 known silent c.399 p.L133 0.864 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 27 11 28.95 34 0 0.00 LANCL3 347404 genome.wustl.edu 37 X 37431657 37431657 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 37431657 37431657 G C SNP LANCL3 ENST00000378619 human ensembl 70_37 +1 known silent c.534 p.L178 1.000 pfam_LANC-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 26 16 38.10 45 0 0.00 LAP3 51056 genome.wustl.edu 37 4 17583415 17583415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 17583415 17583415 G A SNP LAP3 ENST00000226299 human ensembl 70_37 +1 known missense c.251 p.R84Q 1.000 pfam_Peptidase_M17_N pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC ENSG00000002549 29 15 34.09 79 0 0.00 LAP3 51056 genome.wustl.edu 37 4 17585203 17585203 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 17585203 17585203 C T SNP LAP3 ENST00000226299 human ensembl 70_37 +1 known silent c.477 p.L159 1.000 pfam_Peptidase_M17_N pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC ENSG00000002549 26 20 43.48 37 0 0.00 LAP3 51056 genome.wustl.edu 37 4 17608478 17608478 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 17608478 17608478 C T SNP LAP3 ENST00000226299 human ensembl 70_37 +1 known silent c.1287 p.V429 0.989 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC ENSG00000002549 39 10 20.41 49 0 0.00 LARGE 9215 genome.wustl.edu 37 22 33670487 33670487 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 33670487 33670487 C G SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.2197 p.E733Q 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 48 28 36.36 66 0 0.00 LARGE 9215 genome.wustl.edu 37 22 33673147 33673147 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 33673147 33673147 C G SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.1972 p.E658Q 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 21 11 34.38 43 0 0.00 LARGE 9215 genome.wustl.edu 37 22 33712207 33712207 + Nonsense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 33712207 33712207 C A SNP LARGE ENST00000354992 human ensembl 70_37 -1 known nonsense c.1315 p.E439* 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 19 3 13.64 27 0 0.00 LARGE 9215 genome.wustl.edu 37 22 33733679 33733679 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 33733679 33733679 G A SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.1240 p.R414W 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 3 10 76.92 37 0 0.00 LARGE 9215 genome.wustl.edu 37 22 34157361 34157361 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 34157361 34157361 C T SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.103 p.E35K 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 33 17 34.00 47 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154092620 154092620 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 154092620 154092620 G A SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.135 p.P45 0.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 43 30 41.10 87 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154173553 154173553 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154173553 154173553 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.831 p.G277 0.994 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 41 29 41.43 66 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154179226 154179226 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154179226 154179226 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1222 p.L408F 1.000 pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 61 19 23.75 67 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154179283 154179283 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 154179283 154179283 G A SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 77 32 29.36 67 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154181657 154181657 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 154181657 154181657 G C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1576 p.E526Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 23 15 39.47 71 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154185505 154185505 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 154185505 154185505 A C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2380 p.K794Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 46 12 20.69 56 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154188117 154188117 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 154188117 154188117 G C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2566 p.E856Q 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 39 26 40.00 81 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154190876 154190876 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154190876 154190876 C G SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2682 p.F894L 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 35 9 20.45 38 0 0.00 LARP1 23367 genome.wustl.edu 37 5 154191164 154191164 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 154191164 154191164 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.2814 p.L938 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 11 10 47.62 12 0 0.00 LARP1B 55132 genome.wustl.edu 37 4 129012266 129012266 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 129012266 129012266 C T SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known missense c.469 p.R157W 0.987 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 29 8 21.62 28 0 0.00 LARP1B 55132 genome.wustl.edu 37 4 129100541 129100541 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 129100541 129100541 C G SNP LARP1B ENST00000503725 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LARP1B HGNC ENSG00000138709 44 14 24.14 49 0 0.00 LARP1B 55132 genome.wustl.edu 37 4 129100652 129100652 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 129100652 129100652 G C SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known missense c.1988 p.G663A 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 79 12 13.19 74 0 0.00 LARP1B 55132 genome.wustl.edu 37 4 129120696 129120696 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 129120696 129120696 G A SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known silent c.2106 p.L702 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 40 7 14.89 75 0 0.00 LARP4 113251 genome.wustl.edu 37 12 50860803 50860803 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 50860803 50860803 C T SNP LARP4 ENST00000429001 human ensembl 70_37 +1 known missense c.1463 p.S488L 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 40 28 41.18 71 0 0.00 LARP4 113251 genome.wustl.edu 37 12 50869372 50869372 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50869372 50869372 C A SNP LARP4 ENST00000429001 human ensembl 70_37 +1 known missense c.1918 p.L640I 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 12 9 42.86 41 0 0.00 LARP4B 23185 genome.wustl.edu 37 10 871711 871711 + Nonsense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 10 871711 871711 G A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known nonsense c.1225 p.R409* 0.903 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 36 9 20.00 36 0 0.00 LARP4B 23185 genome.wustl.edu 37 10 875463 875463 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 875463 875463 C A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known silent c.987 p.V329 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 43 18 29.51 83 0 0.00 LARP4B 23185 genome.wustl.edu 37 10 876851 876851 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 876851 876851 C T SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known missense c.817 p.D273N 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 39 9 18.75 44 0 0.00 LARP4B 23185 genome.wustl.edu 37 10 890928 890928 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 890928 890928 G A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known silent c.498 p.F166 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 45 5 10.00 52 0 0.00 LARP4B 23185 genome.wustl.edu 37 10 909788 909788 + Nonsense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 909788 909788 C A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known nonsense c.325 p.E109* 0.926 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 18 8 30.77 37 0 0.00 LARP6 55323 genome.wustl.edu 37 15 71128664 71128664 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128664 71128664 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known silent c.381 p.V127 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 90 11 10.89 98 0 0.00 LARP6 55323 genome.wustl.edu 37 15 71128729 71128729 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128729 71128729 C G SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known missense c.316 p.D106H 0.999 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 63 11 14.86 74 0 0.00 LARP6 55323 genome.wustl.edu 37 15 71128790 71128790 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 71128790 71128790 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known nonsense c.255 p.W85* 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 22 8 26.67 43 0 0.00 LARP6 55323 genome.wustl.edu 37 15 71128822 71128822 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 71128822 71128822 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known missense c.223 p.E75K 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 46 7 13.21 54 0 0.00 LARP7 51574 genome.wustl.edu 37 4 113578653 113578653 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 113578653 113578653 A G SNP LARP7 ENST00000503898 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors LARP7 HGNC ENSG00000174720 24 40 61.54 27 0 0.00 LARS 51520 genome.wustl.edu 37 5 145509623 145509623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145509623 145509623 G C SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.2586 p.F862L 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 70 30 30.00 56 0 0.00 LARS 51520 genome.wustl.edu 37 5 145531511 145531511 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 145531511 145531511 C T SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.1339 p.D447N 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 181 24 11.71 275 0 0.00 LARS 51520 genome.wustl.edu 37 5 145537109 145537109 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145537109 145537109 G A SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.922 p.R308C 0.999 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 14 16 53.33 50 0 0.00 LARS2 23395 genome.wustl.edu 37 3 45441741 45441741 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 45441741 45441741 C T SNP LARS2 ENST00000265537 human ensembl 70_37 +1 known missense c.239 p.S80L 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 26 12 31.58 66 0 0.00 LARS2 23395 genome.wustl.edu 37 3 45554648 45554648 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 45554648 45554648 G T SNP LARS2 ENST00000265537 human ensembl 70_37 +1 known silent c.1782 p.L594 1.000 pfam_aa-tRNA-synth_Ia,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 114 14 10.94 162 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64732513 64732513 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 64732513 64732513 C T SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC ENSG00000001497 30 12 28.57 25 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64738311 64738311 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 64738311 64738311 C T SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.002 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 32 7 17.95 63 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64741096 64741096 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 64741096 64741096 G C SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC ENSG00000001497 52 9 14.75 47 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64741096 64741096 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 64741096 64741096 G C SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC ENSG00000001497 28 27 49.09 64 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64741776 64741776 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 64741776 64741776 G C SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors LAS1L HGNC ENSG00000001497 98 17 14.78 108 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64741915 64741915 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 64741915 64741915 G A SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.492 - - - no_errors LAS1L HGNC ENSG00000001497 38 24 38.71 52 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64742159 64742159 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64742159 64742159 G A SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.736 - - - no_errors LAS1L HGNC ENSG00000001497 35 19 35.19 54 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64742692 64742692 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64742692 64742692 G T SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors LAS1L HGNC ENSG00000001497 26 16 38.10 43 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64749560 64749560 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 64749560 64749560 G A SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.713 p.S238L 0.000 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 61 18 22.78 71 0 0.00 LAS1L 81887 genome.wustl.edu 37 X 64752491 64752491 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 64752491 64752491 C T SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.382 p.E128K 0.986 pfam_Las1 pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 51 33 39.29 89 0 0.00 LASP1 3927 genome.wustl.edu 37 17 37034359 37034359 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 37034359 37034359 C G SNP LASP1 ENST00000318008 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 71 14 16.47 55 0 0.00 LAT 27040 genome.wustl.edu 37 16 28997209 28997209 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 28997209 28997209 C T SNP LAT ENST00000395461 human ensembl 70_37 +1 known missense c.271 p.H91Y 0.163 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 40 11 21.57 32 0 0.00 LATS1 9113 genome.wustl.edu 37 6 149983239 149983239 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 149983239 149983239 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.3019 p.H1007Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 14 15 51.72 40 0 0.00 LATS1 9113 genome.wustl.edu 37 6 149997435 149997435 + Silent SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 149997435 149997435 A C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known silent c.2844 p.P948 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 57 8 12.31 64 0 0.00 LATS1 9113 genome.wustl.edu 37 6 149997469 149997469 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 149997469 149997469 C A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.2810 p.G937V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 15 38 71.70 62 0 0.00 LATS1 9113 genome.wustl.edu 37 6 149997697 149997697 + Nonsense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 149997697 149997697 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.2770 p.R924* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 74 25 25.25 45 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150001486 150001486 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 150001486 150001486 C A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known silent c.2118 p.V706 0.995 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 44 12 21.43 42 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150001559 150001559 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 150001559 150001559 C G SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.2045 p.R682T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 65 22 25.29 58 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150004568 150004568 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 150004568 150004568 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.1657 p.Q553E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 24 64 72.73 90 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150004621 150004621 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150004621 150004621 C T SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.1604 p.G535E 0.986 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 138 27 16.36 193 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150005408 150005408 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 150005408 150005408 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.817 p.Q273* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 6 20 76.92 33 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150005474 150005474 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150005474 150005474 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.751 p.P251A 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 40 23 36.51 50 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150005552 150005552 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150005552 150005552 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.673 p.Q225E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 47 28 37.33 75 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150005605 150005605 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 150005605 150005605 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.620 p.S207* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 18 60 76.92 78 0 0.00 LATS1 9113 genome.wustl.edu 37 6 150016267 150016267 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 150016267 150016267 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.439 p.R147* 0.786 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 18 4 18.18 47 0 0.00 LATS2 26524 genome.wustl.edu 37 13 21549039 21549039 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 21549039 21549039 C T SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known silent c.3237 p.Q1079 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC ENSG00000150457 46 14 23.33 27 0 0.00 LATS2 26524 genome.wustl.edu 37 13 21562747 21562747 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 21562747 21562747 C T SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known missense c.1172 p.R391H 0.271 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC ENSG00000150457 23 10 30.30 19 0 0.00 LATS2 26524 genome.wustl.edu 37 13 21619910 21619910 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 21619910 21619910 G A SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known missense c.256 p.P86S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC ENSG00000150457 52 21 28.77 46 0 0.00 LAX1 54900 genome.wustl.edu 37 1 203743702 203743702 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203743702 203743702 G C SNP LAX1 ENST00000442561 human ensembl 70_37 +1 known missense c.1090 p.E364Q 0.021 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 28 22 44.00 36 0 0.00 LBH 81606 genome.wustl.edu 37 2 30457343 30457343 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 30457343 30457343 C T SNP LBH ENST00000395323 human ensembl 70_37 +1 known silent c.99 p.L33 0.991 pirsf_LBH,prints_LBH pirsf_LBH,prints_LBH - no_errors LBH HGNC ENSG00000213626 31 25 44.64 57 0 0.00 LBH 81606 genome.wustl.edu 37 2 30480657 30480657 + RNA DEL T T - TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 30480657 30480657 T - DEL LBH ENST00000467242 human ensembl 70_37 +1 known rna NULL NULL 0.930 - - - no_errors LBH HGNC ENSG00000213626 20 3 13.04 37 0 0.00 LBR 3930 genome.wustl.edu 37 1 225592163 225592163 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 225592163 225592163 G A SNP LBR ENST00000272163 human ensembl 70_37 -1 known missense c.1630 p.R544C 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 19 15 44.12 33 0 0.00 LBR 3930 genome.wustl.edu 37 1 225600261 225600261 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 225600261 225600261 G C SNP LBR ENST00000272163 human ensembl 70_37 -1 known missense c.979 p.L327V 0.929 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 11 18 62.07 27 0 0.00 LBR 3930 genome.wustl.edu 37 1 225606999 225606999 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 225606999 225606999 G A SNP LBR ENST00000272163 human ensembl 70_37 -1 known silent c.606 p.I202 0.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 49 26 34.67 60 0 0.00 LBX2 85474 genome.wustl.edu 37 2 74726617 74726617 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 74726617 74726617 G A SNP LBX2 ENST00000377566 human ensembl 70_37 -1 known silent c.48 p.I16 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors LBX2 HGNC ENSG00000179528 120 16 11.76 138 0 0.00 LBX2 85474 genome.wustl.edu 37 2 74729814 74729814 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 74729814 74729814 G A SNP LBX2 ENST00000460508 human ensembl 70_37 -1 known missense c.173 p.S58L 0.007 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors LBX2 HGNC ENSG00000179528 32 11 25.58 51 0 0.00 LCA5 167691 genome.wustl.edu 37 6 80196912 80196912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 80196912 80196912 C G SNP LCA5 ENST00000369846 human ensembl 70_37 -1 known missense c.1903 p.D635H 0.532 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 4 9 69.23 34 0 0.00 LCA5 167691 genome.wustl.edu 37 6 80198894 80198894 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 80198894 80198894 C A SNP LCA5 ENST00000369846 human ensembl 70_37 -1 known missense c.1138 p.G380W 0.895 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 34 4 10.53 29 0 0.00 LCA5L 150082 genome.wustl.edu 37 21 40777909 40777909 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40777909 40777909 G A SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known nonsense c.1912 p.Q638* 0.567 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 41 15 26.79 101 0 0.00 LCA5L 150082 genome.wustl.edu 37 21 40777980 40777980 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40777980 40777980 G C SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known nonsense c.1841 p.S614* 0.001 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 42 17 28.81 95 0 0.00 LCA5L 150082 genome.wustl.edu 37 21 40778144 40778144 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40778144 40778144 G A SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known silent c.1677 p.L559 0.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 87 23 20.91 106 0 0.00 LCA5L 150082 genome.wustl.edu 37 21 40795190 40795190 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 40795190 40795190 C G SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known missense c.549 p.L183F 0.997 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 57 28 32.94 69 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974031 67974031 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 67974031 67974031 C G SNP LCAT ENST00000264005 human ensembl 70_37 -1 known missense c.1099 p.D367H 0.997 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 22 30 57.69 40 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974263 67974263 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974263 67974263 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.867 p.F289 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 140 53 27.46 184 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974269 67974269 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 67974269 67974269 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.861 p.H287 0.271 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 67 50 42.37 122 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974298 67974298 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974298 67974298 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known missense c.832 p.P278S 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 157 32 16.93 216 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974359 67974359 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974359 67974359 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.771 p.I257 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 83 22 20.95 106 0 0.00 LCAT 3931 genome.wustl.edu 37 16 67974364 67974364 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974364 67974364 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known missense c.766 p.P256S 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 76 20 20.83 100 0 0.00 LCE1A 353131 genome.wustl.edu 37 1 152800280 152800280 + Nonstop_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152800280 152800280 G T SNP LCE1A ENST00000335123 human ensembl 70_37 +1 known nonstop c.332 p.*111L 0.895 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 32 15 31.91 53 0 0.00 LCE1B 353132 genome.wustl.edu 37 1 152785089 152785089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152785089 152785089 C G SNP LCE1B ENST00000360090 human ensembl 70_37 +1 known missense c.167 p.S56C 0.140 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 196 49 19.92 227 0 0.00 LCE1D 353134 genome.wustl.edu 37 1 152770355 152770355 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152770355 152770355 T C SNP LCE1D ENST00000326233 human ensembl 70_37 +1 known missense c.85 p.C29R 0.236 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 34 20 37.04 86 0 0.00 LCE1E 353135 genome.wustl.edu 37 1 152759813 152759824 + In_Frame_Del DEL CTCCCAAGTGCA CTCCCAAGTGCA - TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 CTCCCAAGTGCA CTCCCAAGTGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 152759813 152759824 CTCCCAAGTGCA - DEL LCE1E ENST00000368770 human ensembl 70_37 +1 known in_frame_del c.38_49 p.TPKC17in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.993:0.980:0.785:0.777 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 79 12 13.19 54 0 0.00 LCE1E 353135 genome.wustl.edu 37 1 152759824 152759824 + Missense_Mutation SNP A A C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 152759824 152759824 A C SNP LCE1E ENST00000368770 human ensembl 70_37 +1 known missense c.49 p.T17P 0.777 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 72 12 14.29 60 0 0.00 LCE2B 26239 genome.wustl.edu 37 1 152659559 152659559 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152659559 152659559 C T SNP LCE2B ENST00000368780 human ensembl 70_37 +1 known silent c.240 p.L80 0.000 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 61 18 22.78 62 0 0.00 LCE2C 353140 genome.wustl.edu 37 1 152648817 152648817 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 152648817 152648817 G A SNP LCE2C ENST00000368783 human ensembl 70_37 +1 known missense c.326 p.C109Y 0.997 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 51 35 40.70 24 0 0.00 LCE2D 353141 genome.wustl.edu 37 1 152636743 152636743 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 152636743 152636743 C G SNP LCE2D ENST00000368784 human ensembl 70_37 +1 known missense c.162 p.S54R 0.592 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 68 31 31.31 83 0 0.00 LCE3C 353144 genome.wustl.edu 37 1 152573352 152573352 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152573352 152573352 G A SNP LCE3C ENST00000333881 human ensembl 70_37 +1 known missense c.145 p.E49K 0.927 NULL NULL - no_errors LCE3C HGNC ENSG00000244057 47 20 29.85 67 0 0.00 LCE3C 353144 genome.wustl.edu 37 1 152573352 152573352 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 152573352 152573352 G C SNP LCE3C ENST00000333881 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.927 NULL NULL - no_errors LCE3C HGNC ENSG00000244057 89 17 16.04 24 0 0.00 LCLAT1 253558 genome.wustl.edu 37 2 30748456 30748456 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 30748456 30748456 C T SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known silent c.114 p.I38 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 25 26 50.98 45 0 0.00 LCLAT1 253558 genome.wustl.edu 37 2 30828927 30828927 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 30828927 30828927 T C SNP LCLAT1 ENST00000319406 human ensembl 70_37 +1 known missense c.788 p.L263P 0.497 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 28 4 12.50 12 0 0.00 LCLAT1 253558 genome.wustl.edu 37 2 30863168 30863168 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 30863168 30863168 G A SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known missense c.928 p.E310K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 69 34 32.69 104 0 0.00 LCLAT1 253558 genome.wustl.edu 37 2 30863174 30863174 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 30863174 30863174 G A SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 75 38 33.63 109 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25123262 25123262 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 25123262 25123262 G T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.58 p.D20Y 0.010 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC ENSG00000205629 25 4 13.79 46 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25162856 25162856 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 25162856 25162856 C G SNP LCMT1 ENST00000572869 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LCMT1 HGNC ENSG00000205629 26 10 27.78 39 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25162906 25162906 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 25162906 25162906 G T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known nonsense c.436 p.E146* 0.073 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC ENSG00000205629 12 10 45.45 46 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25172470 25172470 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 25172470 25172470 C T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.514 p.L172F 1.000 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC ENSG00000205629 21 6 22.22 29 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25186283 25186283 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 25186283 25186283 G A SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC ENSG00000205629 11 6 35.29 16 0 0.00 LCMT1 51451 genome.wustl.edu 37 16 25186283 25186283 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 16 25186283 25186283 G A SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC ENSG00000205629 29 22 43.14 34 0 0.00 LCMT2 9836 genome.wustl.edu 37 15 43620819 43620819 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 43620819 43620819 C G SNP LCMT2 ENST00000305641 human ensembl 70_37 -1 known missense c.1869 p.L623F 0.992 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 14 10 41.67 57 0 0.00 LCMT2 9836 genome.wustl.edu 37 15 43622163 43622163 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 43622163 43622163 C T SNP LCMT2 ENST00000305641 human ensembl 70_37 -1 known silent c.525 p.A175 0.038 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 0 13 100.00 8 0 0.00 LCN10 414332 genome.wustl.edu 37 9 139637353 139637353 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 139637353 139637353 C T SNP LCN10 ENST00000497771 human ensembl 70_37 -1 known missense c.3 p.M1I 0.416 NULL superfamily_Calycin-like - no_errors LCN10 HGNC ENSG00000187922 39 23 37.10 53 0 0.00 LCN8 138307 genome.wustl.edu 37 9 139649782 139649782 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139649782 139649782 C T SNP LCN8 ENST00000371688 human ensembl 70_37 -1 known missense c.335 p.R112Q 0.861 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN8 HGNC ENSG00000204001 34 35 50.72 79 0 0.00 LCN8 138307 genome.wustl.edu 37 9 139650308 139650308 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139650308 139650308 G A SNP LCN8 ENST00000482893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LCN8 HGNC ENSG00000204001 252 73 22.39 183 0 0.00 LCOR 84458 genome.wustl.edu 37 10 98714983 98714983 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 98714983 98714983 C T SNP LCOR ENST00000356016 human ensembl 70_37 +1 known silent c.606 p.F202 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 35 27 42.86 49 0 0.00 LCORL 254251 genome.wustl.edu 37 4 17885383 17885383 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 17885383 17885383 G A SNP LCORL ENST00000382226 human ensembl 70_37 -1 known missense c.1769 p.S590L 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 19 9 32.14 31 0 0.00 LCORL 254251 genome.wustl.edu 37 4 17885634 17885634 + Silent SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 17885634 17885634 T A SNP LCORL ENST00000382226 human ensembl 70_37 -1 known silent c.1518 p.G506 0.979 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 40 15 27.27 62 0 0.00 LCP2 3937 genome.wustl.edu 37 5 169689718 169689718 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 169689718 169689718 G A SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known nonsense c.847 p.Q283* 0.811 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 35 17 32.69 68 0 0.00 LCP2 3937 genome.wustl.edu 37 5 169697724 169697724 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 169697724 169697724 G A SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known silent c.522 p.I174 0.851 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 62 43 40.95 89 0 0.00 LCP2 3937 genome.wustl.edu 37 5 169724598 169724598 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 169724598 169724598 C T SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known silent c.18 p.V6 0.096 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 21 6 22.22 18 0 0.00 LCT 3938 genome.wustl.edu 37 2 136546109 136546109 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 136546109 136546109 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.5569 p.G1857R 0.015 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 41 5 10.87 45 0 0.00 LCT 3938 genome.wustl.edu 37 2 136547286 136547286 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 136547286 136547286 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known silent c.5418 p.E1806 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 28 9 24.32 29 0 0.00 LCT 3938 genome.wustl.edu 37 2 136564854 136564854 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 136564854 136564854 G A SNP LCT ENST00000264162 human ensembl 70_37 -1 known silent c.4017 p.F1339 0.002 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 101 70 40.94 142 0 0.00 LCT 3938 genome.wustl.edu 37 2 136566629 136566629 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 136566629 136566629 G A SNP LCT ENST00000264162 human ensembl 70_37 -1 known silent c.3288 p.A1096 0.015 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 70 9 11.39 64 0 0.00 LCT 3938 genome.wustl.edu 37 2 136575262 136575262 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 136575262 136575262 C A SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.1356 p.K452N 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 19 11 36.67 32 0 0.00 LCT 3938 genome.wustl.edu 37 2 136575357 136575357 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 136575357 136575357 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.1261 p.E421K 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 23 17 42.50 52 0 0.00 LCTL 197021 genome.wustl.edu 37 15 66857046 66857046 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 66857046 66857046 C G SNP LCTL ENST00000341509 human ensembl 70_37 -1 known missense c.250 p.D84H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 36 29 44.62 83 0 0.00 LDB1 8861 genome.wustl.edu 37 10 103867963 103867963 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103867963 103867963 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1123 p.E375K 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 57 42 42.42 105 0 0.00 LDB1 8861 genome.wustl.edu 37 10 103868034 103868034 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103868034 103868034 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1052 p.G351E 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 32 22 40.74 80 0 0.00 LDB1 8861 genome.wustl.edu 37 10 103868035 103868035 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103868035 103868035 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1051 p.G351R 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 33 22 40.00 81 0 0.00 LDB1 8861 genome.wustl.edu 37 10 103870840 103870840 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 103870840 103870840 G A SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known nonsense c.235 p.Q79* 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 76 14 15.56 99 0 0.00 LDB2 9079 genome.wustl.edu 37 4 16504717 16504717 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 16504717 16504717 G T SNP LDB2 ENST00000503178 human ensembl 70_37 -1 known missense c.557 p.A186E 0.357 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 31 4 11.11 28 0 0.00 LDB2 9079 genome.wustl.edu 37 4 16590405 16590405 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 16590405 16590405 C G SNP LDB2 ENST00000304523 human ensembl 70_37 -1 known missense c.459 p.M153I 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 57 21 26.58 68 0 0.00 LDB2 9079 genome.wustl.edu 37 4 16590439 16590439 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 16590439 16590439 C G SNP LDB2 ENST00000304523 human ensembl 70_37 -1 known missense c.425 p.R142T 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 41 14 25.45 89 0 0.00 LDB3 11155 genome.wustl.edu 37 10 88439877 88439877 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 88439877 88439877 C A SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.284 p.P95Q 0.394 superfamily_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 35 4 10.26 29 0 0.00 LDB3 11155 genome.wustl.edu 37 10 88441244 88441244 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88441244 88441244 G C SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.373 p.E125Q 0.094 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 93 17 15.45 89 0 0.00 LDB3 11155 genome.wustl.edu 37 10 88441498 88441498 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 88441498 88441498 G C SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.627 p.E209D 1.000 smart_ZASP pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 26 31 54.39 79 0 0.00 LDB3 11155 genome.wustl.edu 37 10 88494845 88494845 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 88494845 88494845 C A SNP LDB3 ENST00000480727 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDB3 HGNC ENSG00000122367 18 6 25.00 28 0 0.00 LDHAL6A 160287 genome.wustl.edu 37 11 18485562 18485562 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 18485562 18485562 G A SNP LDHAL6A ENST00000280706 human ensembl 70_37 +1 known missense c.181 p.E61K 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6A HGNC ENSG00000166800 79 36 31.30 160 1 0.62 LDHAL6B 92483 genome.wustl.edu 37 15 59500058 59500058 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 59500058 59500058 G A SNP LDHAL6B ENST00000307144 human ensembl 70_37 +1 known missense c.919 p.D307N 0.998 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 45 31 40.26 31 0 0.00 LDHAL6CP 121498 genome.wustl.edu 37 12 63398299 63398299 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 63398299 63398299 T C SNP LDHAL6CP ENST00000550738 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 7 8 53.33 29 0 0.00 LDHB 3945 genome.wustl.edu 37 12 21790116 21790116 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 21790116 21790116 G A SNP LDHB ENST00000350669 human ensembl 70_37 -1 known silent c.726 p.V242 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 106 32 23.19 155 0 0.00 LDHC 3948 genome.wustl.edu 37 11 18434310 18434310 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 18434310 18434310 G A SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.46 p.D16N 0.805 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 9 5 35.71 43 0 0.00 LDHC 3948 genome.wustl.edu 37 11 18451395 18451395 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 18451395 18451395 C T SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.356 p.S119L 0.989 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 30 10 25.00 25 0 0.00 LDHC 3948 genome.wustl.edu 37 11 18467785 18467785 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 18467785 18467785 T C SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.739 p.Y247H 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 16 20 55.56 91 0 0.00 LDHD 197257 genome.wustl.edu 37 16 75148453 75148453 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 75148453 75148453 C T SNP LDHD ENST00000300051 human ensembl 70_37 -1 known silent c.600 p.L200 0.942 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 12 8 40.00 17 0 0.00 LDHD 197257 genome.wustl.edu 37 16 75148489 75148489 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 75148489 75148489 G C SNP LDHD ENST00000300051 human ensembl 70_37 -1 known silent c.564 p.L188 0.128 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 14 10 41.67 19 0 0.00 LDHD 197257 genome.wustl.edu 37 16 75150535 75150535 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 75150535 75150535 C A SNP LDHD ENST00000569876 human ensembl 70_37 -1 known missense c.84 p.E28D 0.000 NULL NULL - no_errors LDHD HGNC ENSG00000166816 9 9 50.00 38 0 0.00 LDLR 3949 genome.wustl.edu 37 19 11216264 11216264 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 11216264 11216264 G A SNP LDLR ENST00000558518 human ensembl 70_37 +1 known missense c.682 p.E228K 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 33 5 13.16 20 0 0.00 LDLRAD3 143458 genome.wustl.edu 37 11 36057766 36057766 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 36057766 36057766 G A SNP LDLRAD3 ENST00000315571 human ensembl 70_37 +1 known missense c.160 p.D54N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 20 16 44.44 16 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13387562 13387562 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 13387562 13387562 G A SNP LDLRAD4 ENST00000590371 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors LDLRAD4 HGNC ENSG00000168675 8 6 42.86 17 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13612692 13612692 + RNA SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 13612692 13612692 G A SNP LDLRAD4 ENST00000590308 human ensembl 70_37 +1 known rna NULL NULL 0.210 - - - no_errors LDLRAD4 HGNC ENSG00000168675 26 10 27.78 34 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13612736 13612736 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 13612736 13612736 G A SNP LDLRAD4 ENST00000587757 human ensembl 70_37 +1 known silent c.33 p.L11 1.000 NULL NULL - no_errors LDLRAD4 HGNC ENSG00000168675 39 13 25.00 30 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13612849 13612849 + RNA SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 13612849 13612849 G C SNP LDLRAD4 ENST00000590308 human ensembl 70_37 +1 known rna NULL NULL 0.240 - - - no_errors LDLRAD4 HGNC ENSG00000168675 16 4 20.00 19 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13615492 13615492 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 18 13615492 13615492 C T SNP LDLRAD4 ENST00000590308 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LDLRAD4 HGNC ENSG00000168675 41 7 14.58 31 0 0.00 LDLRAD4 753 genome.wustl.edu 37 18 13645378 13645378 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 13645378 13645378 G A SNP LDLRAD4 ENST00000359446 human ensembl 70_37 +1 known missense c.643 p.D215N 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 40 14 25.93 57 0 0.00 LDLRAP1 26119 genome.wustl.edu 37 1 25891673 25891673 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25891673 25891673 G A SNP LDLRAP1 ENST00000374338 human ensembl 70_37 +1 known missense c.757 p.D253N 1.000 NULL pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors LDLRAP1 HGNC ENSG00000157978 63 32 33.68 128 1 0.77 LDLRAP1 26119 genome.wustl.edu 37 1 25893756 25893756 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25893756 25893756 C A SNP LDLRAP1 ENST00000470950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC ENSG00000157978 31 8 20.51 59 0 0.00 LDLRAP1 26119 genome.wustl.edu 37 1 25894702 25894702 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 25894702 25894702 C T SNP LDLRAP1 ENST00000488127 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC ENSG00000157978 22 8 26.67 30 0 0.00 LDLRAP1 26119 genome.wustl.edu 37 1 25894729 25894729 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 25894729 25894729 G A SNP LDLRAP1 ENST00000488127 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors LDLRAP1 HGNC ENSG00000157978 15 5 25.00 31 0 0.00 LDOC1 23641 genome.wustl.edu 37 X 140270994 140270994 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 140270994 140270994 C T SNP LDOC1 ENST00000370526 human ensembl 70_37 -1 known silent c.213 p.T71 0.077 NULL NULL - no_errors LDOC1 HGNC ENSG00000182195 50 30 37.04 69 0 0.00 LECT1 11061 genome.wustl.edu 37 13 53277901 53277901 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 53277901 53277901 G A SNP LECT1 ENST00000377962 human ensembl 70_37 -1 known silent c.834 p.H278 0.988 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 17 3 15.00 40 0 0.00 LEF1 51176 genome.wustl.edu 37 4 109000667 109000667 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 109000667 109000667 C T SNP LEF1 ENST00000265165 human ensembl 70_37 -1 known missense c.826 p.D276N 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors LEF1 HGNC ENSG00000138795 110 38 25.68 147 0 0.00 LEFTY1 10637 genome.wustl.edu 37 1 226075320 226075320 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 226075320 226075320 C G SNP LEFTY1 ENST00000272134 human ensembl 70_37 -1 known missense c.516 p.E172D 0.999 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY1 HGNC ENSG00000243709 64 11 14.67 43 0 0.00 LEFTY2 7044 genome.wustl.edu 37 1 226125178 226125178 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 226125178 226125178 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known missense c.1064 p.S355L 0.994 pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 47 7 12.73 49 0 0.00 LEFTY2 7044 genome.wustl.edu 37 1 226127176 226127176 + Silent SNP G G A TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 1 226127176 226127176 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known silent c.622 p.L208 0.972 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 9 8 47.06 18 0 0.00 LEFTY2 7044 genome.wustl.edu 37 1 226127637 226127637 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 226127637 226127637 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known missense c.316 p.R106W 0.988 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 14 4 22.22 18 0 0.00 LEKR1 389170 genome.wustl.edu 37 3 156544666 156544666 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 156544666 156544666 G A SNP LEKR1 ENST00000491763 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LEKR1 Uniprot_genename ENSG00000197980 68 36 34.62 98 0 0.00 LEKR1 389170 genome.wustl.edu 37 3 156570671 156570671 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 156570671 156570671 C T SNP LEKR1 ENST00000356539 human ensembl 70_37 +1 known nonsense c.163 p.Q55* 1.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 8 9 52.94 18 0 0.00 LEKR1 389170 genome.wustl.edu 37 3 156642386 156642386 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 156642386 156642386 G C SNP LEKR1 ENST00000491763 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors LEKR1 Uniprot_genename ENSG00000197980 23 12 34.29 11 0 0.00 LEKR1 389170 genome.wustl.edu 37 3 156697069 156697069 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 156697069 156697069 G A SNP LEKR1 ENST00000489350 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors LEKR1 Uniprot_genename ENSG00000197980 15 6 28.57 28 0 0.00 LEMD2 221496 genome.wustl.edu 37 6 33746118 33746118 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 33746118 33746118 C T SNP LEMD2 ENST00000293760 human ensembl 70_37 -1 known missense c.1057 p.V353M 0.998 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors LEMD2 HGNC ENSG00000161904 18 6 24.00 24 0 0.00 LENG1 79165 genome.wustl.edu 37 19 54659533 54659533 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 54659533 54659533 G A SNP LENG1 ENST00000222224 human ensembl 70_37 -1 known missense c.721 p.R241W 0.393 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 13 4 22.22 9 0 0.00 LENG8 114823 genome.wustl.edu 37 19 54968077 54968077 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 54968077 54968077 C G SNP LENG8 ENST00000326764 human ensembl 70_37 +1 known missense c.1708 p.P570A 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 32 5 13.51 21 0 0.00 LENG8 114823 genome.wustl.edu 37 19 54969844 54969844 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 54969844 54969844 C T SNP LENG8 ENST00000431846 human ensembl 70_37 +1 putative missense c.2384 p.S795L 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 105 49 31.82 179 0 0.00 LENG8 114823 genome.wustl.edu 37 19 54972070 54972070 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54972070 54972070 G C SNP LENG8 ENST00000326764 human ensembl 70_37 +1 known missense c.2365 p.D789H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 5 3 37.50 10 0 0.00 LENG9 94059 genome.wustl.edu 37 19 54974291 54974291 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54974291 54974291 G A SNP LENG9 ENST00000333834 human ensembl 70_37 -1 known missense c.485 p.S162L 1.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 5 4 44.44 8 0 0.00 LENG9 94059 genome.wustl.edu 37 19 54974291 54974291 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 54974291 54974291 G C SNP LENG9 ENST00000333834 human ensembl 70_37 -1 known missense c.485 p.S162W 1.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 38 12 24.00 27 0 0.00 LEO1 123169 genome.wustl.edu 37 15 52244147 52244147 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52244147 52244147 C G SNP LEO1 ENST00000299601 human ensembl 70_37 -1 known missense c.1505 p.R502T 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 32 17 34.69 32 0 0.00 LEO1 123169 genome.wustl.edu 37 15 52251016 52251016 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 52251016 52251016 C G SNP LEO1 ENST00000299601 human ensembl 70_37 -1 known missense c.1168 p.D390H 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 57 19 25.00 26 0 0.00 LEO1 123169 genome.wustl.edu 37 15 52252223 52252223 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 52252223 52252223 G C SNP LEO1 ENST00000299601 human ensembl 70_37 -1 known missense c.1033 p.Q345E 1.000 NULL pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 95 21 18.10 70 0 0.00 LEP 3952 genome.wustl.edu 37 7 127894739 127894739 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 127894739 127894739 G A SNP LEP ENST00000308868 human ensembl 70_37 +1 known missense c.427 p.E143K 0.951 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC ENSG00000174697 14 11 44.00 32 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66036280 66036280 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 66036280 66036280 G C SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.165 p.K55N 0.076 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 61 19 23.75 49 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66036294 66036294 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 66036294 66036294 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.179 p.S60W 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 39 12 23.53 45 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66036336 66036336 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 66036336 66036336 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known nonsense c.221 p.S74* 0.545 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 13 15 53.57 22 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66036405 66036405 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66036405 66036405 G T SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.290 p.R97I 0.969 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 17 14 45.16 42 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66058453 66058453 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 66058453 66058453 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.608 p.A203G 0.870 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 73 17 18.89 124 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66067544 66067544 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 66067544 66067544 C T SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.1304 p.S435L 1.000 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 44 15 25.42 71 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66087044 66087044 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 66087044 66087044 G A SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.2500 p.E834K 0.031 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 83 12 12.63 85 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66088677 66088677 + RNA SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66088677 66088677 A T SNP LEPR ENST00000471762 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LEPR HGNC ENSG00000116678 37 6 13.95 51 0 0.00 LEPR 3953 genome.wustl.edu 37 1 66098839 66098839 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 66098839 66098839 C T SNP LEPR ENST00000371060 human ensembl 70_37 +1 known missense c.2678 p.T893M 0.834 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 48 14 22.58 72 0 0.00 LEPRE1 64175 genome.wustl.edu 37 1 43212309 43212309 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 43212309 43212309 G C SNP LEPRE1 ENST00000462474 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LEPRE1 HGNC ENSG00000117385 6 5 45.45 10 0 0.00 LEPRE1 64175 genome.wustl.edu 37 1 43213019 43213019 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 43213019 43213019 C G SNP LEPRE1 ENST00000236040 human ensembl 70_37 -1 known missense c.1979 p.G660A 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 31 19 38.00 62 0 0.00 LEPRE1 64175 genome.wustl.edu 37 1 43217983 43217983 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 43217983 43217983 C T SNP LEPRE1 ENST00000236040 human ensembl 70_37 -1 known missense c.1531 p.E511K 0.995 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 38 16 29.63 30 0 0.00 LEPRE1 64175 genome.wustl.edu 37 1 43223463 43223464 + Frame_Shift_Ins INS - - C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 43223463 43223464 - C INS LEPRE1 ENST00000236040 human ensembl 70_37 -1 known frame_shift_ins c.1071_1070 p.R359fs 0.023:0.020 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 117 57 32.76 190 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189690765 189690765 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 189690765 189690765 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.1597 p.D533N 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 47 9 16.07 28 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189705337 189705337 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 189705337 189705337 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known silent c.1077 p.P359 0.038 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 9 44 83.02 35 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189706770 189706770 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 189706770 189706770 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.881 p.R294H 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 15 13 46.43 34 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189711934 189711934 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 189711934 189711934 C G SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.772 p.E258Q 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 123 47 27.01 151 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189711979 189711979 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 189711979 189711979 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.727 p.E243K 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 50 13 20.63 31 0 0.00 LEPREL1 55214 genome.wustl.edu 37 3 189713147 189713147 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 189713147 189713147 C G SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.565 p.E189Q 0.971 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 21 5 19.23 55 0 0.00 LEPREL2 10536 genome.wustl.edu 37 12 6941065 6941065 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 6941065 6941065 G C SNP LEPREL2 ENST00000396725 human ensembl 70_37 +1 known missense c.1196 p.S399T 0.016 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 21 3 12.50 50 0 0.00 LEPREL2 10536 genome.wustl.edu 37 12 6948234 6948234 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 6948234 6948234 G A SNP LEPREL2 ENST00000396725 human ensembl 70_37 +1 known nonsense c.1973 p.W658* 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 36 22 37.93 62 0 0.00 LEPREL2 10536 genome.wustl.edu 37 12 6948853 6948853 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 6948853 6948853 G A SNP LEPREL2 ENST00000251761 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LEPREL2 HGNC ENSG00000110811 27 24 47.06 27 0 0.00 LEPROTL1 23484 genome.wustl.edu 37 8 29961916 29961916 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 29961916 29961916 G A SNP LEPROTL1 ENST00000523116 human ensembl 70_37 +1 known missense c.193 p.A65T 1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 35 29 45.31 88 0 0.00 LETM1 3954 genome.wustl.edu 37 4 1824729 1824729 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 1824729 1824729 G A SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1462 p.R488C 0.000 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 17 14 42.42 29 0 0.00 LETM1 3954 genome.wustl.edu 37 4 1824750 1824750 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 4 1824750 1824750 G A SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1441 p.R481C 0.004 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 34 12 26.09 49 0 0.00 LETM1 3954 genome.wustl.edu 37 4 1824792 1824792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 1824792 1824792 C G SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1399 p.E467Q 1.000 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 21 24 53.33 43 0 0.00 LETM2 137994 genome.wustl.edu 37 8 38250390 38250390 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 38250390 38250390 C G SNP LETM2 ENST00000379957 human ensembl 70_37 +1 known missense c.378 p.I126M 0.005 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 30 11 26.83 21 0 0.00 LETMD1 25875 genome.wustl.edu 37 12 51442167 51442167 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 51442167 51442167 C G SNP LETMD1 ENST00000262055 human ensembl 70_37 +1 known missense c.28 p.R10G 0.939 NULL pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 36 4 10.00 47 0 0.00 LETMD1 25875 genome.wustl.edu 37 12 51442848 51442848 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 51442848 51442848 G A SNP LETMD1 ENST00000262055 human ensembl 70_37 +1 known missense c.154 p.D52N 0.907 NULL pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 54 146 72.64 116 0 0.00 LEUTX 342900 genome.wustl.edu 37 19 40276439 40276439 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 40276439 40276439 G A SNP LEUTX ENST00000396841 human ensembl 70_37 +1 novel silent c.171 p.K57 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain - no_errors LEUTX HGNC ENSG00000213921 60 20 25.00 39 0 0.00 LFNG 3955 genome.wustl.edu 37 7 2552881 2552882 + Frame_Shift_Ins INS - - GATG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 2552881 2552882 - GATG INS LFNG ENST00000402506 human ensembl 70_37 +1 putative frame_shift_ins c.138_139 p.M50fs 0.003:0.004 NULL pfam_Fringe-like - no_errors LFNG HGNC ENSG00000106003 66 11 14.29 69 0 0.00 LFNG 3955 genome.wustl.edu 37 7 2564882 2564882 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 2564882 2564882 G T SNP LFNG ENST00000222725 human ensembl 70_37 +1 known missense c.511 p.A171S 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors LFNG HGNC ENSG00000106003 66 35 34.65 107 0 0.00 LGALS1 3956 genome.wustl.edu 37 22 38071707 38071707 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 38071707 38071707 A G SNP LGALS1 ENST00000480207 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors LGALS1 HGNC ENSG00000100097 89 10 10.10 110 0 0.00 LGALS12 85329 genome.wustl.edu 37 11 63276260 63276260 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 11 63276260 63276260 G A SNP LGALS12 ENST00000340246 human ensembl 70_37 +1 known missense c.238 p.D80N 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 49 10 16.95 46 0 0.00 LGALS12 85329 genome.wustl.edu 37 11 63277954 63277954 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 63277954 63277954 G A SNP LGALS12 ENST00000340246 human ensembl 70_37 +1 known missense c.581 p.R194K 0.005 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 68 21 23.60 103 0 0.00 LGALS16 148003 genome.wustl.edu 37 19 40148497 40148497 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40148497 40148497 C G SNP LGALS16 ENST00000594480 human ensembl 70_37 +1 known silent c.45 p.L15 0.006 NULL NULL - no_errors LGALS16 HGNC ENSG00000249861 41 39 48.75 76 0 0.00 LGALS3 3958 genome.wustl.edu 37 14 55609464 55609464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 55609464 55609464 C G SNP LGALS3 ENST00000254301 human ensembl 70_37 +1 known missense c.594 p.F198L 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS3 HGNC ENSG00000131981 17 8 32.00 28 0 0.00 LGALS3BP 3959 genome.wustl.edu 37 17 76968555 76968555 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 76968555 76968555 G C SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known missense c.861 p.F287L 0.998 pfam_BACK,smart_BACK pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 9 24 72.73 66 0 0.00 LGALS3BP 3959 genome.wustl.edu 37 17 76969269 76969269 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76969269 76969269 C T SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known missense c.412 p.E138K 0.245 superfamily_BTB/POZ_fold pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 9 5 35.71 19 0 0.00 LGALS3BP 3959 genome.wustl.edu 37 17 76970878 76970878 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 76970878 76970878 C A SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known nonsense c.268 p.E90* 0.519 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 35 5 12.50 17 0 0.00 LGALS7B 653499 genome.wustl.edu 37 19 39281369 39281369 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 39281369 39281369 G A SNP LGALS7B ENST00000314980 human ensembl 70_37 +1 known missense c.136 p.D46N 0.022 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS7B HGNC ENSG00000178934 252 82 24.55 213 0 0.00 LGALS8 3964 genome.wustl.edu 37 1 236703888 236703888 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 236703888 236703888 C G SNP LGALS8 ENST00000352231 human ensembl 70_37 +1 known missense c.370 p.L124V 0.724 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC ENSG00000116977 29 10 25.64 57 0 0.00 LGALS8 3964 genome.wustl.edu 37 1 236708213 236708213 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 236708213 236708213 G C SNP LGALS8 ENST00000352231 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC ENSG00000116977 15 13 46.43 23 0 0.00 LGALS9 3965 genome.wustl.edu 37 17 25958285 25958285 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 25958285 25958285 C T SNP LGALS9 ENST00000448970 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LGALS9 HGNC ENSG00000168961 114 50 30.30 147 0 0.00 LGALS9 3965 genome.wustl.edu 37 17 25958316 25958316 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 25958316 25958316 C T SNP LGALS9 ENST00000395473 human ensembl 70_37 +1 known missense c.25 p.P9S 0.013 superfamily_ConA-like_lec_gl_sf pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 39 30 43.48 96 0 0.00 LGI1 9211 genome.wustl.edu 37 10 95518033 95518033 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 95518033 95518033 C T SNP LGI1 ENST00000371418 human ensembl 70_37 +1 known silent c.132 p.A44 0.991 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 24 23 48.94 28 0 0.00 LGI2 55203 genome.wustl.edu 37 4 25005856 25005856 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 25005856 25005856 G A SNP LGI2 ENST00000382114 human ensembl 70_37 -1 known silent c.855 p.I285 0.998 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 10 7 41.18 23 0 0.00 LGI2 55203 genome.wustl.edu 37 4 25014039 25014039 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 25014039 25014039 G A SNP LGI2 ENST00000382114 human ensembl 70_37 -1 known silent c.738 p.I246 0.999 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 41 32 43.84 97 0 0.00 LGI3 203190 genome.wustl.edu 37 8 22009023 22009023 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22009023 22009023 G A SNP LGI3 ENST00000306317 human ensembl 70_37 -1 known nonsense c.808 p.R270* 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 34 12 26.09 37 0 0.00 LGI3 203190 genome.wustl.edu 37 8 22009485 22009485 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 22009485 22009485 C G SNP LGI3 ENST00000306317 human ensembl 70_37 -1 known missense c.523 p.D175H 1.000 smart_Cys-rich_flank_reg_C pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 70 25 26.32 96 0 0.00 LGI4 163175 genome.wustl.edu 37 19 35622312 35622312 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 35622312 35622312 C G SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known missense c.606 p.K202N 0.443 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 48 15 23.81 33 0 0.00 LGI4 163175 genome.wustl.edu 37 19 35625473 35625473 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35625473 35625473 C T SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known missense c.112 p.A38T 0.978 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 102 18 15.00 141 0 0.00 LGI4 163175 genome.wustl.edu 37 19 35625543 35625543 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 35625543 35625543 C T SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known silent c.42 p.A14 0.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 17 20 54.05 25 0 0.00 LGR4 55366 genome.wustl.edu 37 11 27390317 27390317 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 27390317 27390317 C G SNP LGR4 ENST00000379214 human ensembl 70_37 -1 known missense c.1953 p.M651I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 9 10 52.63 19 0 0.00 LGR4 55366 genome.wustl.edu 37 11 27395587 27395587 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 27395587 27395587 C T SNP LGR4 ENST00000379214 human ensembl 70_37 -1 known silent c.1188 p.L396 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 41 9 18.00 50 0 0.00 LGR5 8549 genome.wustl.edu 37 12 71946981 71946981 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 71946981 71946981 C T SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.557 p.S186L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 38 9 19.15 36 0 0.00 LGR5 8549 genome.wustl.edu 37 12 71972642 71972642 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 71972642 71972642 C G SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1339 p.H447D 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 27 7 20.59 47 0 0.00 LGR5 8549 genome.wustl.edu 37 12 71972644 71972644 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 71972644 71972644 C A SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1341 p.H447Q 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 26 7 21.21 49 0 0.00 LGR5 8549 genome.wustl.edu 37 12 71972663 71972663 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 71972663 71972663 C G SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1360 p.H454D 0.999 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 34 25 42.37 47 0 0.00 LGR6 59352 genome.wustl.edu 37 1 202250137 202250137 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 202250137 202250137 C T SNP LGR6 ENST00000506931 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors LGR6 HGNC ENSG00000133067 27 15 35.71 19 0 0.00 LGR6 59352 genome.wustl.edu 37 1 202279443 202279443 + Missense_Mutation SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 202279443 202279443 A G SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known missense c.1525 p.K509E 0.993 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 36 4 10.00 109 0 0.00 LGR6 59352 genome.wustl.edu 37 1 202287768 202287768 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 202287768 202287768 C A SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known silent c.2337 p.I779 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 71 8 10.13 86 0 0.00 LGR6 59352 genome.wustl.edu 37 1 202288144 202288144 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 202288144 202288144 C T SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known nonsense c.2713 p.Q905* 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 32 19 37.25 39 0 0.00 LHB 3972 genome.wustl.edu 37 19 49519367 49519367 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49519367 49519367 C T SNP LHB ENST00000221421 human ensembl 70_37 -1 known silent c.384 p.L128 0.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 108 24 18.18 142 0 0.00 LHCGR 3973 genome.wustl.edu 37 2 48915735 48915735 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48915735 48915735 G T SNP LHCGR ENST00000294954 human ensembl 70_37 -1 known missense c.1201 p.L401I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC ENSG00000138039 6 8 57.14 38 0 0.00 LHCGR 3973 genome.wustl.edu 37 2 48935993 48935993 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 48935993 48935993 C T SNP LHCGR ENST00000477576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LHCGR HGNC ENSG00000138039 13 7 35.00 30 0 0.00 LHFP 10186 genome.wustl.edu 37 13 40175136 40175136 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 40175136 40175136 G A SNP LHFP ENST00000379589 human ensembl 70_37 -1 known missense c.218 p.S73F 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC ENSG00000183722 11 38 77.55 53 0 0.00 LHFPL1 340596 genome.wustl.edu 37 X 111914462 111914462 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 111914462 111914462 G T SNP LHFPL1 ENST00000371968 human ensembl 70_37 -1 known missense c.157 p.P53T 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 109 65 37.36 58 0 0.00 LHFPL1 340596 genome.wustl.edu 37 X 111914586 111914586 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 111914586 111914586 G A SNP LHFPL1 ENST00000371968 human ensembl 70_37 -1 known silent c.33 p.L11 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 28 27 49.09 101 0 0.00 LHFPL2 10184 genome.wustl.edu 37 5 77784642 77784642 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 77784642 77784642 C G SNP LHFPL2 ENST00000502722 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors LHFPL2 HGNC ENSG00000145685 41 5 10.87 38 0 0.00 LHFPL2 10184 genome.wustl.edu 37 5 77784660 77784660 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 77784660 77784660 G C SNP LHFPL2 ENST00000502722 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors LHFPL2 HGNC ENSG00000145685 48 8 14.29 74 0 0.00 LHFPL4 375323 genome.wustl.edu 37 3 9543896 9543896 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9543896 9543896 C T SNP LHFPL4 ENST00000287585 human ensembl 70_37 -1 known silent c.743 p.*248 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 59 13 18.06 43 0 0.00 LHFPL4 375323 genome.wustl.edu 37 3 9594298 9594298 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 9594298 9594298 G A SNP LHFPL4 ENST00000287585 human ensembl 70_37 -1 known silent c.66 p.I22 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 20 13 39.39 71 0 0.00 LHFPL5 222662 genome.wustl.edu 37 6 35773528 35773528 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 35773528 35773528 G C SNP LHFPL5 ENST00000360215 human ensembl 70_37 +1 known silent c.81 p.V27 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 47 10 17.54 54 0 0.00 LHFPL5 222662 genome.wustl.edu 37 6 35787460 35787460 + RNA DEL T T - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 35787460 35787460 T - DEL LHFPL5 ENST00000496656 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors LHFPL5 HGNC ENSG00000197753 2 6 75.00 9 0 0.00 LHX1 3975 genome.wustl.edu 37 17 35298151 35298151 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 35298151 35298151 G A SNP LHX1 ENST00000254457 human ensembl 70_37 +1 known silent c.642 p.A214 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX1 HGNC ENSG00000132130 26 7 21.21 26 0 0.00 LHX2 9355 genome.wustl.edu 37 9 126795395 126795396 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 126795395 126795396 - A INS LHX2 ENST00000488674 human ensembl 70_37 +1 known rna NULL NULL 0.992:0.989 - - - no_errors LHX2 HGNC ENSG00000106689 61 47 43.52 15 0 0.00 LHX3 8022 genome.wustl.edu 37 9 139092469 139092469 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139092469 139092469 G A SNP LHX3 ENST00000371746 human ensembl 70_37 -1 known silent c.225 p.F75 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX3 HGNC ENSG00000107187 18 9 33.33 28 0 0.00 LHX3 8022 genome.wustl.edu 37 9 139096823 139096823 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139096823 139096823 C T SNP LHX3 ENST00000371748 human ensembl 70_37 -1 known silent c.36 p.A12 0.236 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX3 HGNC ENSG00000107187 47 35 42.68 104 0 0.00 LHX6 26468 genome.wustl.edu 37 9 124979434 124979434 + Nonsense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 124979434 124979434 C A SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known nonsense c.595 p.E199* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC ENSG00000106852 73 40 35.40 105 0 0.00 LHX6 26468 genome.wustl.edu 37 9 124988717 124988717 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 124988717 124988717 C T SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known silent c.399 p.L133 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC ENSG00000106852 40 57 58.76 101 0 0.00 LHX6 26468 genome.wustl.edu 37 9 124989703 124989703 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 124989703 124989703 G A SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known silent c.141 p.T47 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC ENSG00000106852 13 6 31.58 43 0 0.00 LHX8 431707 genome.wustl.edu 37 1 75602794 75602794 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 75602794 75602794 G A SNP LHX8 ENST00000294638 human ensembl 70_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX8 HGNC ENSG00000162624 10 4 28.57 8 0 0.00 LHX8 431707 genome.wustl.edu 37 1 75608863 75608863 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 75608863 75608863 G C SNP LHX8 ENST00000294638 human ensembl 70_37 +1 known silent c.450 p.R150 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX8 HGNC ENSG00000162624 20 9 31.03 50 0 0.00 LHX9 56956 genome.wustl.edu 37 1 197901077 197901077 + Missense_Mutation SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 197901077 197901077 A C SNP LHX9 ENST00000561173 human ensembl 70_37 +1 putative missense c.983 p.Q328P 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC ENSG00000143355 22 7 24.14 57 0 0.00 LIAS 11019 genome.wustl.edu 37 4 39465151 39465151 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 39465151 39465151 G A SNP LIAS ENST00000261434 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 53 6 10.17 79 0 0.00 LIF 3976 genome.wustl.edu 37 22 30639682 30639682 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 30639682 30639682 C T SNP LIF ENST00000249075 human ensembl 70_37 -1 known silent c.567 p.G189 1.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 38 8 17.39 57 0 0.00 LIFR 3977 genome.wustl.edu 37 5 38481717 38481718 + Frame_Shift_Ins INS - - A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 5 38481717 38481718 - A INS LIFR ENST00000263409 human ensembl 70_37 -1 known frame_shift_ins c.3274_3273 p.Q1091fs 1.000:1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 43 10 18.87 38 0 0.00 LIFR 3977 genome.wustl.edu 37 5 38506637 38506637 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 38506637 38506637 G A SNP LIFR ENST00000263409 human ensembl 70_37 -1 known silent c.1089 p.G363 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 33 5 13.16 44 0 0.00 LIFR 3977 genome.wustl.edu 37 5 38511901 38511901 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 38511901 38511901 T C SNP LIFR ENST00000263409 human ensembl 70_37 -1 known missense c.727 p.N243D 0.886 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 52 8 13.33 58 0 0.00 LIFR-AS1 100506495 genome.wustl.edu 37 5 38557749 38557749 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 38557749 38557749 G A SNP LIFR-AS1 ENST00000500733 human ensembl 70_37 +1 known rna NULL NULL 0.058 - - - no_errors LIFR-AS1 HGNC ENSG00000244968 20 11 35.48 17 0 0.00 LIG1 3978 genome.wustl.edu 37 19 48619186 48619186 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 48619186 48619186 G A SNP LIG1 ENST00000263274 human ensembl 70_37 -1 known missense c.2620 p.R874W 1.000 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 21 19 47.50 37 0 0.00 LIG1 3978 genome.wustl.edu 37 19 48653381 48653381 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 48653381 48653381 G A SNP LIG1 ENST00000263274 human ensembl 70_37 -1 known missense c.661 p.P221S 0.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 87 24 21.62 127 0 0.00 LIG3 3980 genome.wustl.edu 37 17 33318059 33318059 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 33318059 33318059 G A SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.967 p.D323N 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 9 16 64.00 51 0 0.00 LIG3 3980 genome.wustl.edu 37 17 33318723 33318723 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 33318723 33318723 G A SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.1075 p.E359K 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 14 7 33.33 12 0 0.00 LIG3 3980 genome.wustl.edu 37 17 33328397 33328397 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33328397 33328397 C G SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.2453 p.S818C 0.960 superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 50 39 43.82 65 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108861015 108861015 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 13 108861015 108861015 C T SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2602 p.D868N 0.993 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 12 8 40.00 29 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108861152 108861152 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 108861152 108861152 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2465 p.S822L 0.039 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 75 11 12.79 111 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108861165 108861165 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 108861165 108861165 C T SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2452 p.V818I 0.000 smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 26 6 18.75 23 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108861175 108861175 + Silent SNP T T A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 13 108861175 108861175 T A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known silent c.2442 p.R814 0.888 smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 75 29 27.88 89 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108861664 108861664 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 108861664 108861664 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known silent c.1953 p.N651 0.000 superfamily_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 30 19 38.78 67 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108862394 108862394 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 108862394 108862394 G C SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.1223 p.A408G 1.000 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 88 11 11.11 62 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108862428 108862428 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 108862428 108862428 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.1189 p.P397S 0.711 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 14 35 71.43 29 0 0.00 LIG4 3981 genome.wustl.edu 37 13 108863389 108863389 + Missense_Mutation SNP T T G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 13 108863389 108863389 T G SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.228 p.E76D 0.998 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 94 19 16.81 106 0 0.00 LILRA1 11024 genome.wustl.edu 37 19 55107366 55107366 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55107366 55107366 G A SNP LILRA1 ENST00000251372 human ensembl 70_37 +1 known silent c.924 p.S308 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC ENSG00000104974 109 69 38.76 126 1 0.79 LILRA1 11024 genome.wustl.edu 37 19 55107748 55107748 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 55107748 55107748 G A SNP LILRA1 ENST00000251372 human ensembl 70_37 +1 known silent c.1053 p.P351 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC ENSG00000104974 52 45 46.39 88 0 0.00 LILRA2 11027 genome.wustl.edu 37 19 55085931 55085931 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55085931 55085931 G T SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known missense c.234 p.K78N 0.001 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 39 18 31.58 75 0 0.00 LILRA2 11027 genome.wustl.edu 37 19 55086222 55086222 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 55086222 55086222 C G SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known nonsense c.377 p.S126* 0.228 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 284 42 12.84 348 0 0.00 LILRA2 11027 genome.wustl.edu 37 19 55086305 55086305 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 55086305 55086305 C T SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known silent c.460 p.L154 0.001 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 59 41 41.00 103 0 0.00 LILRA2 11027 genome.wustl.edu 37 19 55086320 55086320 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55086320 55086320 G A SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known missense c.475 p.E159K 0.374 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 81 52 39.10 83 0 0.00 LILRA3 11026 genome.wustl.edu 37 19 54802507 54802507 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 54802507 54802507 C T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.934 p.D312N 0.038 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC ENSG00000170866 57 30 34.09 108 0 0.00 LILRA3 11026 genome.wustl.edu 37 19 54803494 54803494 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 54803494 54803494 G T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.330 p.S110R 0.224 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC ENSG00000170866 23 44 65.67 58 0 0.00 LILRA3 11026 genome.wustl.edu 37 19 54803724 54803724 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 54803724 54803724 C T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.100 p.E34K 0.288 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC ENSG00000170866 39 12 23.53 70 0 0.00 LILRA3 11026 genome.wustl.edu 37 19 54804218 54804218 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 54804218 54804218 G A SNP LILRA3 ENST00000391745 human ensembl 70_37 -1 putative nonsense c.7 p.R3* 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC ENSG00000170866 68 40 37.04 72 0 0.00 LILRA4 23547 genome.wustl.edu 37 19 54848713 54848713 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 54848713 54848713 C T SNP LILRA4 ENST00000291759 human ensembl 70_37 -1 known missense c.910 p.E304K 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA4 HGNC ENSG00000239961 174 68 27.98 171 0 0.00 LILRA5 353514 genome.wustl.edu 37 19 54822829 54822829 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54822829 54822829 C T SNP LILRA5 ENST00000301219 human ensembl 70_37 -1 known silent c.567 p.L189 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 63 37 37.00 71 0 0.00 LILRA5 353514 genome.wustl.edu 37 19 54822935 54822935 + Nonsense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 54822935 54822935 G T SNP LILRA5 ENST00000301219 human ensembl 70_37 -1 known nonsense c.461 p.S154* 0.596 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 117 17 12.69 126 0 0.00 LILRA6 79168 genome.wustl.edu 37 19 54745682 54745682 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 54745682 54745682 C T SNP LILRA6 ENST00000270464 human ensembl 70_37 -1 known missense c.428 p.R143Q 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRA6 HGNC ENSG00000244482 14 2 12.50 102 1 0.97 LILRB1 10859 genome.wustl.edu 37 19 55146728 55146728 + Missense_Mutation SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 55146728 55146728 T C SNP LILRB1 ENST00000421584 human ensembl 70_37 +1 known missense c.1502 p.M501T 0.001 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRB1 HGNC ENSG00000104972 45 5 10.00 37 0 0.00 LILRB2 10288 genome.wustl.edu 37 19 54783268 54783268 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54783268 54783268 T C SNP LILRB2 ENST00000391749 human ensembl 70_37 -1 known missense c.590 p.Y197C 0.127 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB2 HGNC ENSG00000131042 32 23 41.82 71 0 0.00 LILRB2 10288 genome.wustl.edu 37 19 54783860 54783860 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54783860 54783860 G C SNP LILRB2 ENST00000391749 human ensembl 70_37 -1 known silent c.141 p.L47 0.038 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB2 HGNC ENSG00000131042 39 42 51.85 38 0 0.00 LILRB3 11025 genome.wustl.edu 37 19 54722725 54722725 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 54722725 54722725 G C SNP LILRB3 ENST00000469273 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors LILRB3 HGNC ENSG00000204577 73 27 27.00 36 0 0.00 LILRB3 11025 genome.wustl.edu 37 19 54722725 54722725 + RNA SNP G G C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 54722725 54722725 G C SNP LILRB3 ENST00000469273 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors LILRB3 HGNC ENSG00000204577 78 17 17.89 39 0 0.00 LILRB3 11025 genome.wustl.edu 37 19 54723752 54723752 + Nonsense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 54723752 54723752 G C SNP LILRB3 ENST00000407860 human ensembl 70_37 -1 known nonsense c.1346 p.S449* 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC ENSG00000204577 11 6 35.29 28 0 0.00 LILRB3 11025 genome.wustl.edu 37 19 54725798 54725798 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 54725798 54725798 G T SNP LILRB3 ENST00000407860 human ensembl 70_37 -1 known missense c.560 p.T187N 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC ENSG00000204577 19 4 17.39 23 0 0.00 LILRB3 11025 genome.wustl.edu 37 19 54726628 54726628 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 54726628 54726628 C T SNP LILRB3 ENST00000346401 human ensembl 70_37 -1 known missense c.61 p.V21M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC ENSG00000204577 48 8 14.29 52 0 0.00 LILRB4 11006 genome.wustl.edu 37 19 55160122 55160122 + RNA SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 55160122 55160122 T C SNP LILRB4 ENST00000461839 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRB4 HGNC ENSG00000186818 21 23 52.27 28 0 0.00 LILRB4 11006 genome.wustl.edu 37 19 55175910 55175910 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55175910 55175910 G A SNP LILRB4 ENST00000270452 human ensembl 70_37 +1 known missense c.629 p.S210N 0.376 pfscan_Ig-like pfam_Immunoglobulin,pfscan_Ig-like - no_errors LILRB4 HGNC ENSG00000186818 26 15 36.59 57 0 0.00 LILRB4 11006 genome.wustl.edu 37 19 55176613 55176613 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 55176613 55176613 G C SNP LILRB4 ENST00000270452 human ensembl 70_37 +1 known missense c.739 p.G247R 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like - no_errors LILRB4 HGNC ENSG00000186818 22 6 21.43 22 0 0.00 LILRB5 10990 genome.wustl.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 54754838 54754839 - G INS LILRB5 ENST00000450632 human ensembl 70_37 -1 known frame_shift_ins c.1797_1796 p.P600fs 0.001:0.329 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 28 13 31.71 9 0 0.00 LILRB5 10990 genome.wustl.edu 37 19 54754901 54754901 + Silent SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 54754901 54754901 T C SNP LILRB5 ENST00000450632 human ensembl 70_37 -1 known silent c.1734 p.A578 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC ENSG00000105609 11 3 21.43 27 0 0.00 LIMA1 51474 genome.wustl.edu 37 12 50571413 50571413 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 50571413 50571413 C T SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.1717 p.D573N 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 30 7 18.92 35 0 0.00 LIMA1 51474 genome.wustl.edu 37 12 50575814 50575814 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50575814 50575814 G C SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.1150 p.Q384E 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 18 10 35.71 48 0 0.00 LIMA1 51474 genome.wustl.edu 37 12 50625463 50625463 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 50625463 50625463 C T SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.150 p.M50I 0.610 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 134 18 11.76 133 0 0.00 LIMCH1 22998 genome.wustl.edu 37 4 41631748 41631748 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 41631748 41631748 C T SNP LIMCH1 ENST00000503057 human ensembl 70_37 +1 known missense c.1268 p.A423V 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 62 13 17.33 86 0 0.00 LIMCH1 22998 genome.wustl.edu 37 4 41635754 41635754 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 41635754 41635754 C T SNP LIMCH1 ENST00000503057 human ensembl 70_37 +1 known silent c.2019 p.F673 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 38 16 29.63 55 0 0.00 LIMCH1 22998 genome.wustl.edu 37 4 41683071 41683071 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 41683071 41683071 A G SNP LIMCH1 ENST00000503057 human ensembl 70_37 +1 known missense c.3712 p.T1238A 0.046 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 31 5 13.89 33 0 0.00 LIMD1 8994 genome.wustl.edu 37 3 45637138 45637138 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 45637138 45637138 G A SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.767 p.S256N 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 27 9 25.00 52 0 0.00 LIMD1 8994 genome.wustl.edu 37 3 45637450 45637450 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 45637450 45637450 C T SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.1079 p.S360L 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 25 11 30.56 49 0 0.00 LIMD1 8994 genome.wustl.edu 37 3 45714190 45714190 + Silent SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 45714190 45714190 A G SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known silent c.1650 p.Q550 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 68 37 34.91 99 0 0.00 LIMD1 8994 genome.wustl.edu 37 3 45715872 45715872 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 45715872 45715872 G C SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.1862 p.R621T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 17 8 32.00 22 0 0.00 LIMD1-AS1 644714 genome.wustl.edu 37 3 45730581 45730581 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 45730581 45730581 C T SNP LIMD1-AS1 ENST00000429798 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LIMD1-AS1 HGNC ENSG00000230530 15 4 21.05 38 0 0.00 LIME1 54923 genome.wustl.edu 37 20 62370085 62370085 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 62370085 62370085 C G SNP LIME1 ENST00000309546 human ensembl 70_37 +1 known silent c.720 p.L240 0.003 NULL NULL - no_errors LIME1 HGNC ENSG00000203896 36 6 14.29 43 0 0.00 LIMK1 3984 genome.wustl.edu 37 7 73500115 73500115 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 73500115 73500115 G A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known silent c.93 p.R31 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 24 6 20.00 20 0 0.00 LIMK1 3984 genome.wustl.edu 37 7 73511476 73511476 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 73511476 73511476 G A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.358 p.D120N 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 44 14 24.14 67 0 0.00 LIMK1 3984 genome.wustl.edu 37 7 73520242 73520242 + Missense_Mutation SNP T T A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 7 73520242 73520242 T A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.646 p.S216T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 26 9 25.71 55 0 0.00 LIMK1 3984 genome.wustl.edu 37 7 73521443 73521443 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 73521443 73521443 C T SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.985 p.R329W 0.998 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 88 48 35.29 67 0 0.00 LIMK1 3984 genome.wustl.edu 37 7 73530278 73530278 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 73530278 73530278 G C SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.1557 p.E519D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 43 5 10.42 68 0 0.00 LIMK2 3985 genome.wustl.edu 37 22 31664175 31664175 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 31664175 31664175 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known missense c.1306 p.A436T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 27 8 22.86 53 0 0.00 LIMK2 3985 genome.wustl.edu 37 22 31668596 31668596 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31668596 31668596 C A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known silent c.1464 p.A488 0.010 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 40 13 24.53 60 0 0.00 LIMK2 3985 genome.wustl.edu 37 22 31668686 31668686 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 31668686 31668686 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known silent c.1554 p.L518 0.984 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 20 6 23.08 32 0 0.00 LIMK2 3985 genome.wustl.edu 37 22 31674413 31674413 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 31674413 31674413 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known missense c.1903 p.D635N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 26 28 51.85 39 0 0.00 LIMS1 3987 genome.wustl.edu 37 2 109237831 109237831 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109237831 109237831 A C SNP LIMS1 ENST00000409441 human ensembl 70_37 +1 known missense c.21 p.K7N 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 31 6 16.22 50 0 0.00 LIMS1 3987 genome.wustl.edu 37 2 109276125 109276125 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 109276125 109276125 G A SNP LIMS1 ENST00000542845 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 183 24 11.54 201 0 0.00 LIMS3-LOC440895 100271835 genome.wustl.edu 37 2 111023707 111023707 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 111023707 111023707 A G SNP LIMS3-LOC440895 ENST00000562665 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1223D19.1 Clone_based_vega_gene ENSG00000261760 3 4 57.14 10 0 0.00 LIN28A 79727 genome.wustl.edu 37 1 26751847 26751847 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 26751847 26751847 G T SNP LIN28A ENST00000254231 human ensembl 70_37 +1 known missense c.282 p.E94D 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 40 5 11.11 50 0 0.00 LIN28A 79727 genome.wustl.edu 37 1 26752837 26752837 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 26752837 26752837 C G SNP LIN28A ENST00000254231 human ensembl 70_37 +1 known nonsense c.518 p.S173* 0.926 superfamily_Znf_CCHC,smart_Znf_CCHC pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 90 17 15.89 135 0 0.00 LIN28B 389421 genome.wustl.edu 37 6 105474188 105474188 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 105474188 105474188 G C SNP LIN28B ENST00000345080 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 16 12 42.86 25 0 0.00 LIN37 55957 genome.wustl.edu 37 19 36239657 36239657 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36239657 36239657 C G SNP LIN37 ENST00000301159 human ensembl 70_37 +1 known nonsense c.32 p.S11* 1.000 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 29 22 43.14 34 0 0.00 LIN37 55957 genome.wustl.edu 37 19 36243848 36243848 + Missense_Mutation SNP G G C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 36243848 36243848 G C SNP LIN37 ENST00000301159 human ensembl 70_37 +1 known missense c.225 p.K75N 1.000 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 56 7 11.11 45 0 0.00 LIN54 132660 genome.wustl.edu 37 4 83905636 83905636 + Nonsense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 83905636 83905636 G T SNP LIN54 ENST00000340417 human ensembl 70_37 -1 known nonsense c.362 p.S121* 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 26 3 10.34 48 0 0.00 LIN54 132660 genome.wustl.edu 37 4 83905683 83905683 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 83905683 83905683 C T SNP LIN54 ENST00000340417 human ensembl 70_37 -1 known silent c.315 p.Q105 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 31 42 57.53 50 0 0.00 LIN7A 8825 genome.wustl.edu 37 12 81283066 81283066 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 81283066 81283066 T A SNP LIN7A ENST00000552864 human ensembl 70_37 -1 known missense c.165 p.K55N 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 28 4 12.50 82 0 0.00 LIN7A 8825 genome.wustl.edu 37 12 81331463 81331463 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 81331463 81331463 G C SNP LIN7A ENST00000552864 human ensembl 70_37 -1 known missense c.39 p.D13E 1.000 NULL pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 116 19 14.07 102 0 0.00 LIN7C 55327 genome.wustl.edu 37 11 27520959 27520959 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 27520959 27520959 C G SNP LIN7C ENST00000278193 human ensembl 70_37 -1 known missense c.385 p.D129H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 37 10 21.28 59 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226420826 226420826 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 226420826 226420826 G C SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.1542 p.I514M 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 42 14 25.00 54 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226420843 226420843 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 226420843 226420843 C G SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 20 7 25.93 29 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226426770 226426770 + Nonsense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 226426770 226426770 C A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known nonsense c.1195 p.E399* 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 199 27 11.95 160 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226438593 226438593 + Nonsense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 226438593 226438593 T A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known nonsense c.1114 p.K372* 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 43 35 44.87 69 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226455783 226455783 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 226455783 226455783 G A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.739 p.R247C 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 37 14 27.45 50 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226465515 226465515 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 226465515 226465515 C T SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.691 p.E231K 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 59 14 19.18 74 0 0.00 LIN9 286826 genome.wustl.edu 37 1 226465515 226465515 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 226465515 226465515 C T SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.691 p.E231K 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 46 35 43.21 69 0 0.00 LINC00029 100144596 genome.wustl.edu 37 20 61665882 61665882 + RNA SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 61665882 61665882 G C SNP LINC00029 ENST00000370341 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00029 HGNC ENSG00000125514 25 9 26.47 37 0 0.00 LINC00083 400797 genome.wustl.edu 37 1 178464055 178464055 + RNA SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 178464055 178464055 C G SNP LINC00083 ENST00000445098 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00083 HGNC ENSG00000188585 18 10 35.71 32 0 0.00 LINC00085 147650 genome.wustl.edu 37 19 52206523 52206523 + RNA SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 52206523 52206523 C T SNP LINC00085 ENST00000573266 human ensembl 70_37 +1 known rna NULL NULL 0.550 - - - no_errors LINC00085 HGNC ENSG00000182310 51 34 40.00 73 0 0.00 LINC00086 399668 genome.wustl.edu 37 X 134556133 134556133 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 134556133 134556133 C G SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors LINC00086 HGNC ENSG00000178947 31 8 20.51 40 0 0.00 LINC00086 399668 genome.wustl.edu 37 X 134556239 134556239 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 134556239 134556239 C G SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00086 HGNC ENSG00000178947 51 9 15.00 120 0 0.00 LINC00086 399668 genome.wustl.edu 37 X 134556390 134556390 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 134556390 134556390 C T SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00086 HGNC ENSG00000178947 46 35 43.21 19 0 0.00 LINC00087 644596 genome.wustl.edu 37 X 134232432 134232432 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 134232432 134232432 C G SNP LINC00087 ENST00000433425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00087 HGNC ENSG00000196972 38 13 25.49 61 0 0.00 LINC00094 266655 genome.wustl.edu 37 9 136891828 136891828 + RNA SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136891828 136891828 G T SNP LINC00094 ENST00000430633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 21 3 12.50 15 0 0.00 LINC00152 112597 genome.wustl.edu 37 2 112125137 112125137 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 112125137 112125137 G T SNP LINC00152 ENST00000432818 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC068491.1 Clone_based_vega_gene ENSG00000172965 40 13 24.53 51 0 0.00 LINC00152 112597 genome.wustl.edu 37 2 87755101 87755101 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 87755101 87755101 C T SNP LINC00152 ENST00000331944 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00152 HGNC ENSG00000222041 85 15 15.00 123 1 0.81 LINC00162 378825 genome.wustl.edu 37 21 46419224 46419224 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 21 46419224 46419224 G A SNP LINC00162 ENST00000422199 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors LINC00162 HGNC ENSG00000224930 35 23 39.66 41 0 0.00 LINC00176 284739 genome.wustl.edu 37 20 62669271 62669271 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62669271 62669271 C T SNP LINC00176 ENST00000431158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00176 HGNC ENSG00000196421 71 28 28.28 147 0 0.00 LINC00200 399706 genome.wustl.edu 37 10 1210607 1210607 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 1210607 1210607 C T SNP LINC00200 ENST00000425630 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors LINC00200 HGNC ENSG00000229205 42 9 17.65 48 0 0.00 LINC00207 388910 genome.wustl.edu 37 22 44965319 44965319 + Nonsense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 44965319 44965319 G T SNP LINC00207 ENST00000334566 human ensembl 70_37 +1 putative nonsense c.34 p.G12* 0.102 NULL NULL - no_errors LINC00207 HGNC ENSG00000187012 25 4 13.79 28 0 0.00 LINC00208 83655 genome.wustl.edu 37 8 11438347 11438347 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 11438347 11438347 G C SNP LINC00208 ENST00000304233 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00208 HGNC ENSG00000170983 43 40 48.19 89 0 0.00 LINC00221 338005 genome.wustl.edu 37 14 106950293 106950293 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 106950293 106950293 C T SNP LINC00221 ENST00000334298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00221 HGNC ENSG00000187156 65 27 29.35 136 0 0.00 LINC00229 414351 genome.wustl.edu 37 22 45002824 45002824 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 45002824 45002824 C T SNP LINC00229 ENST00000443783 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00229 HGNC ENSG00000234300 69 12 14.81 35 0 0.00 LINC00238 440184 genome.wustl.edu 37 14 66958355 66958355 + RNA SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 66958355 66958355 G T SNP LINC00238 ENST00000359454 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00238 HGNC ENSG00000196553 14 3 17.65 24 0 0.00 LINC00242 401288 genome.wustl.edu 37 6 170190344 170190344 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 170190344 170190344 C A SNP LINC00242 ENST00000437615 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00242 HGNC ENSG00000229214 26 11 29.73 107 0 0.00 LINC00243 401247 genome.wustl.edu 37 6 30781149 30781149 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 30781149 30781149 C T SNP LINC00243 ENST00000399196 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00243 HGNC ENSG00000214894 41 18 30.51 23 0 0.00 LINC00243 401247 genome.wustl.edu 37 6 30782146 30782146 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 30782146 30782146 C G SNP LINC00243 ENST00000399196 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00243 HGNC ENSG00000214894 26 14 35.00 71 0 0.00 LINC00266-1 140849 genome.wustl.edu 37 20 62934716 62934716 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 62934716 62934716 G A SNP LINC00266-1 ENST00000279067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00266-1 HGNC ENSG00000149656 55 14 20.29 46 0 0.00 LINC00266-1 140849 genome.wustl.edu 37 20 62934863 62934864 + RNA INS - - TT TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 20 62934863 62934864 - TT INS LINC00266-1 ENST00000279067 human ensembl 70_37 +1 known rna NULL NULL 0.448:0.498 - - - no_errors LINC00266-1 HGNC ENSG00000149656 32 4 11.11 34 0 0.00 LINC00269 100996279 genome.wustl.edu 37 X 68428293 68428293 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 68428293 68428293 C G SNP LINC00269 ENST00000399711 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors LINC00269 HGNC ENSG00000215162 4 6 60.00 11 0 0.00 LINC00273 649159 genome.wustl.edu 37 16 33961352 33961352 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 33961352 33961352 G A SNP LINC00273 ENST00000539813 human ensembl 70_37 -1 putative silent c.1089 p.R363 0.000 NULL NULL - no_errors LINC00273 HGNC ENSG00000256642 7 4 36.36 13 0 0.00 LINC00281 26080 genome.wustl.edu 37 22 21663083 21663083 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 21663083 21663083 G A SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.611 - - - no_errors LINC00281 HGNC ENSG00000206142 8 6 42.86 16 0 0.00 LINC00281 26080 genome.wustl.edu 37 22 21663213 21663214 + RNA INS - - GA TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 21663213 21663214 - GA INS LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00281 HGNC ENSG00000206142 19 4 17.39 18 0 0.00 LINC00281 26080 genome.wustl.edu 37 22 21663369 21663369 + RNA SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21663369 21663369 T C SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00281 HGNC ENSG00000206142 30 9 23.08 12 0 0.00 LINC00281 26080 genome.wustl.edu 37 22 21663445 21663445 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 21663445 21663445 C T SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors LINC00281 HGNC ENSG00000206142 79 18 18.37 117 0 0.00 LINC00281 26080 genome.wustl.edu 37 22 21663672 21663672 + RNA SNP T T C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 21663672 21663672 T C SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.827 - - - no_errors LINC00281 HGNC ENSG00000206142 20 9 31.03 12 0 0.00 LINC00283 100874057 genome.wustl.edu 37 13 103396796 103396796 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 13 103396796 103396796 C T SNP LINC00283 ENST00000430111 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00283 HGNC ENSG00000231633 47 33 41.25 29 0 0.00 LINC00301 283197 genome.wustl.edu 37 11 60428208 60428208 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 60428208 60428208 G A SNP LINC00301 ENST00000320202 human ensembl 70_37 +1 known rna NULL NULL 0.081 - - - no_errors LINC00301 HGNC ENSG00000181995 35 9 20.45 48 0 0.00 LINC00303 284573 genome.wustl.edu 37 1 204006330 204006330 + RNA SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 204006330 204006330 G C SNP LINC00303 ENST00000367207 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors LINC00303 HGNC ENSG00000176754 28 19 40.43 43 0 0.00 LINC00304 283860 genome.wustl.edu 37 16 89226822 89226822 + RNA SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 89226822 89226822 G T SNP LINC00304 ENST00000321214 human ensembl 70_37 +1 known rna NULL NULL 0.401 - - - no_errors LINC00304 HGNC ENSG00000180422 17 4 19.05 20 0 0.00 LINC00305 221241 genome.wustl.edu 37 18 61747526 61747526 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 18 61747526 61747526 G A SNP LINC00305 ENST00000323355 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00305 HGNC ENSG00000179676 35 32 47.76 49 0 0.00 LINC00319 284836 genome.wustl.edu 37 21 44870122 44870122 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 44870122 44870122 C T SNP LINC00319 ENST00000342757 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00319 HGNC ENSG00000188660 23 22 48.89 38 0 0.00 LINC00319 284836 genome.wustl.edu 37 21 44870215 44870215 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 44870215 44870215 C T SNP LINC00319 ENST00000342757 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00319 HGNC ENSG00000188660 13 13 50.00 22 0 0.00 LINC00324 284029 genome.wustl.edu 37 17 8126197 8126197 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 8126197 8126197 G A SNP LINC00324 ENST00000315707 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00324 HGNC ENSG00000178977 7 5 41.67 13 0 0.00 LINC00324 284029 genome.wustl.edu 37 17 8126238 8126238 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 8126238 8126238 C T SNP LINC00324 ENST00000315707 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00324 HGNC ENSG00000178977 19 5 20.83 19 0 0.00 LINC00326 285735 genome.wustl.edu 37 6 133427266 133427266 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 133427266 133427266 G A SNP LINC00326 ENST00000434443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00326 HGNC ENSG00000231023 36 6 14.29 35 0 0.00 LINC00341 79686 genome.wustl.edu 37 14 95875614 95875614 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 95875614 95875614 C T SNP LINC00341 ENST00000464767 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00341 HGNC ENSG00000229645 39 22 36.07 61 0 0.00 LINC00346 283487 genome.wustl.edu 37 13 111521724 111521724 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 111521724 111521724 C T SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known silent c.414 p.T138 0.009 NULL NULL - no_errors LINC00346 HGNC ENSG00000255874 28 5 15.15 25 0 0.00 LINC00346 283487 genome.wustl.edu 37 13 111521805 111521805 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 111521805 111521805 G A SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known silent c.333 p.L111 0.696 NULL NULL - no_errors LINC00346 HGNC ENSG00000255874 23 11 32.35 34 0 0.00 LINC00346 283487 genome.wustl.edu 37 13 111522044 111522044 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 111522044 111522044 C T SNP LINC00346 ENST00000538077 human ensembl 70_37 -1 known missense c.94 p.D32N 0.000 NULL NULL - no_errors LINC00346 HGNC ENSG00000255874 45 36 44.44 64 0 0.00 LINC00417 100874164 genome.wustl.edu 37 13 19315143 19315143 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 19315143 19315143 C A SNP LINC00417 ENST00000453176 human ensembl 70_37 -1 known rna NULL NULL 0.176 - - - no_errors LINC00417 HGNC ENSG00000236092 28 21 42.86 74 0 0.00 LINC00417 100874164 genome.wustl.edu 37 13 19317426 19317426 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19317426 19317426 C T SNP LINC00417 ENST00000453176 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors LINC00417 HGNC ENSG00000236092 11 21 63.64 25 0 0.00 LINC00442 348021 genome.wustl.edu 37 13 19582837 19582837 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 19582837 19582837 C A SNP LINC00442 ENST00000428086 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00442 HGNC ENSG00000232685 36 4 10.00 42 0 0.00 LINC00442 348021 genome.wustl.edu 37 13 19586373 19586373 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 19586373 19586373 G A SNP LINC00442 ENST00000428086 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00442 HGNC ENSG00000232685 4 9 69.23 11 0 0.00 LINC00461 645323 genome.wustl.edu 37 5 87962631 87962631 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 87962631 87962631 C T SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 0.887 - - - no_errors LINC00461 HGNC ENSG00000245526 41 16 28.07 51 0 0.00 LINC00461 645323 genome.wustl.edu 37 5 87963191 87963191 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 87963191 87963191 G A SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors LINC00461 HGNC ENSG00000245526 29 11 27.50 58 0 0.00 LINC00461 645323 genome.wustl.edu 37 5 87963223 87963223 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 87963223 87963223 G C SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00461 HGNC ENSG00000245526 92 13 12.38 76 0 0.00 LINC00461 645323 genome.wustl.edu 37 5 87968837 87968837 + RNA SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 87968837 87968837 G T SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 0.639 - - - no_errors LINC00461 HGNC ENSG00000245526 8 3 27.27 18 0 0.00 LINC00467 84791 genome.wustl.edu 37 1 211599579 211599579 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 211599579 211599579 G C SNP LINC00467 ENST00000423222 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors LINC00467 HGNC ENSG00000153363 23 28 54.90 55 0 0.00 LINC00469 283982 genome.wustl.edu 37 17 71819832 71819832 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 71819832 71819832 C G SNP LINC00469 ENST00000321800 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00469 HGNC ENSG00000177338 60 17 22.08 64 0 0.00 LINC00471 151477 genome.wustl.edu 37 2 232373658 232373658 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 232373658 232373658 C T SNP LINC00471 ENST00000313064 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00471 HGNC ENSG00000181798 7 4 36.36 17 0 0.00 LINC00472 79940 genome.wustl.edu 37 6 72054063 72054063 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 72054063 72054063 C G SNP LINC00472 ENST00000413945 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors LINC00472 HGNC ENSG00000233237 30 37 55.22 38 0 0.00 LINC00473 90632 genome.wustl.edu 37 6 166401262 166401262 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 166401262 166401262 C T SNP LINC00473 ENST00000444465 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00473 HGNC ENSG00000223414 6 7 53.85 15 0 0.00 LINC00473 90632 genome.wustl.edu 37 6 166401487 166401487 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 166401487 166401487 G C SNP LINC00473 ENST00000455853 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00473 HGNC ENSG00000223414 39 8 17.02 28 0 0.00 LINC00476 100128782 genome.wustl.edu 37 9 98638102 98638102 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 98638102 98638102 C G SNP LINC00476 ENST00000321517 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00476 HGNC ENSG00000175611 55 19 25.68 26 0 0.00 LINC00476 100128782 genome.wustl.edu 37 9 98638198 98638198 + RNA SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 98638198 98638198 G C SNP LINC00476 ENST00000321517 human ensembl 70_37 -1 known rna NULL NULL 0.049 - - - no_errors LINC00476 HGNC ENSG00000175611 40 22 35.48 42 0 0.00 LINC00478 388815 genome.wustl.edu 37 21 17443607 17443607 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 17443607 17443607 G A SNP LINC00478 ENST00000400178 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00478 HGNC ENSG00000215386 17 14 45.16 48 0 0.00 LINC00479 150135 genome.wustl.edu 37 21 43132708 43132708 + RNA SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 43132708 43132708 G C SNP LINC00479 ENST00000412102 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00479 HGNC ENSG00000236384 50 34 40.00 23 0 0.00 LINC00488 677779 genome.wustl.edu 37 3 108897102 108897102 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 108897102 108897102 C G SNP LINC00488 ENST00000494582 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00488 HGNC ENSG00000214381 41 17 29.31 53 0 0.00 LINC00489 100861522 genome.wustl.edu 37 20 36251310 36251310 + RNA SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 36251310 36251310 G T SNP LINC00489 ENST00000457816 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00489 HGNC ENSG00000225759 26 30 52.63 26 0 0.00 LINC00492 100861468 genome.wustl.edu 37 5 101953227 101953227 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 101953227 101953227 G C SNP LINC00492 ENST00000504436 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors LINC00492 HGNC ENSG00000250958 44 16 26.67 46 0 0.00 LINC00511 400619 genome.wustl.edu 37 17 70400718 70400718 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 70400718 70400718 C T SNP LINC00511 ENST00000457958 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00511 HGNC ENSG00000227036 33 10 23.26 36 0 0.00 LINC00514 283875 genome.wustl.edu 37 16 3040221 3040221 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3040221 3040221 C T SNP LINC00514 ENST00000571152 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00514 HGNC ENSG00000262152 20 4 16.67 31 0 0.00 LINC00516 0 genome.wustl.edu 37 14 19904366 19904366 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 14 19904366 19904366 C T SNP LINC00516 ENST00000549877 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00516 HGNC ENSG00000215394 28 9 24.32 19 0 0.00 LINC00520 645687 genome.wustl.edu 37 14 56259940 56259941 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 56259940 56259941 - A INS LINC00520 ENST00000554186 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00520 HGNC ENSG00000258791 25 4 13.79 21 0 0.00 LINC00521 256369 genome.wustl.edu 37 14 94464410 94464410 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 94464410 94464410 C T SNP LINC00521 ENST00000314629 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00521 HGNC ENSG00000175699 10 4 28.57 34 0 0.00 LINC00521 256369 genome.wustl.edu 37 14 94477664 94477664 + RNA SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 94477664 94477664 G T SNP LINC00521 ENST00000314629 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors LINC00521 HGNC ENSG00000175699 45 36 43.90 36 0 0.00 LINC00523 283601 genome.wustl.edu 37 14 101138355 101138355 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 101138355 101138355 A G SNP LINC00523 ENST00000360899 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00523 HGNC ENSG00000196273 11 9 45.00 18 0 0.00 LINC00539 100652865 genome.wustl.edu 37 13 21875617 21875617 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 21875617 21875617 G A SNP LINC00539 ENST00000424756 human ensembl 70_37 +1 known rna NULL NULL 0.901 - - - no_errors LINC00539 HGNC ENSG00000244054 38 40 51.28 55 0 0.00 LINC00574 80069 genome.wustl.edu 37 6 170201333 170201333 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 170201333 170201333 G T SNP LINC00574 ENST00000420557 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00574 HGNC ENSG00000231690 17 17 50.00 65 0 0.00 LINC00588 26138 genome.wustl.edu 37 8 58192372 58192372 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 58192372 58192372 C T SNP LINC00588 ENST00000521663 human ensembl 70_37 +1 known rna NULL NULL 0.222 - - - no_errors LINC00588 HGNC ENSG00000215117 73 42 36.52 135 0 0.00 LINC00588 26138 genome.wustl.edu 37 8 58192647 58192647 + RNA SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 58192647 58192647 G T SNP LINC00588 ENST00000521663 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00588 HGNC ENSG00000215117 11 5 31.25 14 0 0.00 LINC00596 414767 genome.wustl.edu 37 14 24403723 24403723 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24403723 24403723 G A SNP LINC00596 ENST00000559615 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00596 HGNC ENSG00000259334 25 22 46.81 42 0 0.00 LINC00599 157627 genome.wustl.edu 37 8 9760894 9760894 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 9760894 9760894 C A SNP LINC00599 ENST00000521863 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00599 HGNC ENSG00000253230 82 37 31.09 62 0 0.00 LINC00610 399879 genome.wustl.edu 37 11 36293145 36293145 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 36293145 36293145 C A SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 11 15 57.69 61 0 0.00 LINC00610 399879 genome.wustl.edu 37 11 36293275 36293275 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 36293275 36293275 C T SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 47 15 24.19 42 0 0.00 LINC00610 399879 genome.wustl.edu 37 11 36293351 36293351 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 36293351 36293351 C T SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 15 20 57.14 77 0 0.00 LINC00612 253128 genome.wustl.edu 37 12 9217250 9217250 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 9217250 9217250 G A SNP LINC00612 ENST00000399104 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00612 HGNC ENSG00000214851 3 4 57.14 8 0 0.00 LINC00618 145249 genome.wustl.edu 37 14 97411571 97411571 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 97411571 97411571 C T SNP LINC00618 ENST00000435624 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00618 HGNC ENSG00000225163 29 21 42.00 81 0 0.00 LINC00623 728855 genome.wustl.edu 37 1 149581062 149581062 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 149581062 149581062 G A SNP LINC00623 ENST00000598569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 29 9 23.68 19 0 0.00 LINC00623 728855 genome.wustl.edu 37 1 149581234 149581235 + RNA INS - - T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 149581234 149581235 - T INS LINC00623 ENST00000598569 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 10 7 41.18 10 0 0.00 LINC00623 728855 genome.wustl.edu 37 1 149581234 149581235 + RNA INS - - T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 149581234 149581235 - T INS LINC00623 ENST00000598569 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 48 15 23.81 22 0 0.00 LINC00634 339674 genome.wustl.edu 37 22 42354487 42354488 + RNA INS - - GAGA TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 42354487 42354488 - GAGA INS LINC00634 ENST00000381348 human ensembl 70_37 +1 known rna NULL NULL 0.030:0.088 - - - no_errors LINC00634 HGNC ENSG00000205704 9 3 25.00 10 0 0.00 LINC00643 646113 genome.wustl.edu 37 14 62584910 62584910 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62584910 62584910 G A SNP LINC00643 ENST00000555518 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00643 HGNC ENSG00000186369 9 8 47.06 34 0 0.00 LINC00649 100506334 genome.wustl.edu 37 21 35348506 35348506 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 35348506 35348506 C G SNP LINC00649 ENST00000427447 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00649 HGNC ENSG00000237945 30 6 16.67 24 0 0.00 LINC00652 29075 genome.wustl.edu 37 20 18772659 18772659 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 18772659 18772659 A G SNP LINC00652 ENST00000454749 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00652 HGNC ENSG00000179935 34 21 37.50 39 0 0.00 LINC00654 149837 genome.wustl.edu 37 20 5479672 5479672 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 5479672 5479672 C T SNP LINC00654 ENST00000379053 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00654 HGNC ENSG00000205181 14 8 36.36 33 0 0.00 LINC00654 149837 genome.wustl.edu 37 20 5480027 5480027 + RNA SNP T T G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 5480027 5480027 T G SNP LINC00654 ENST00000379053 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00654 HGNC ENSG00000205181 26 10 27.78 42 0 0.00 LINC00657 647979 genome.wustl.edu 37 20 34638258 34638258 + RNA SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 34638258 34638258 G A SNP LINC00657 ENST00000565493 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00657 HGNC ENSG00000260032 21 12 35.29 20 0 0.00 LINC00657 647979 genome.wustl.edu 37 20 34638451 34638451 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 34638451 34638451 C T SNP LINC00657 ENST00000565493 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00657 HGNC ENSG00000260032 19 19 50.00 33 0 0.00 LINC00661 126536 genome.wustl.edu 37 19 16136156 16136156 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 16136156 16136156 G A SNP LINC00661 ENST00000379899 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors LINC00661 HGNC ENSG00000205396 38 13 25.49 33 0 0.00 LINC00661 126536 genome.wustl.edu 37 19 16136857 16136857 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16136857 16136857 G C SNP LINC00661 ENST00000379899 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00661 HGNC ENSG00000205396 31 36 53.73 56 0 0.00 LINC00665 100506930 genome.wustl.edu 37 19 36803992 36803992 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36803992 36803992 G C SNP LINC00665 ENST00000449434 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors LINC00665 HGNC ENSG00000232677 37 13 26.00 24 0 0.00 LINC00665 100506930 genome.wustl.edu 37 19 36806927 36806927 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36806927 36806927 T C SNP LINC00665 ENST00000412740 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00665 HGNC ENSG00000232677 76 12 13.64 28 0 0.00 LINC00665 100506930 genome.wustl.edu 37 19 36821288 36821288 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 36821288 36821288 C G SNP LINC00665 ENST00000412740 human ensembl 70_37 -1 known rna NULL NULL 0.220 - - - no_errors LINC00665 HGNC ENSG00000232677 55 13 19.12 32 0 0.00 LINC00669 647946 genome.wustl.edu 37 18 37380143 37380143 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 37380143 37380143 G C SNP LINC00669 ENST00000591629 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors LINC00669 HGNC ENSG00000267374 49 34 40.96 32 0 0.00 LINC00670 284034 genome.wustl.edu 37 17 12493990 12493990 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 12493990 12493990 G T SNP LINC00670 ENST00000313495 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00670 HGNC ENSG00000179136 37 31 45.59 55 0 0.00 LINC00671 388387 genome.wustl.edu 37 17 41031653 41031653 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41031653 41031653 C G SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors LINC00671 HGNC ENSG00000213373 61 35 36.46 84 0 0.00 LINC00671 388387 genome.wustl.edu 37 17 41031767 41031767 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41031767 41031767 C G SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00671 HGNC ENSG00000213373 54 22 28.95 61 0 0.00 LINC00671 388387 genome.wustl.edu 37 17 41050668 41050668 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 41050668 41050668 C T SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00671 HGNC ENSG00000213373 9 44 83.02 43 0 0.00 LINC00675 100289255 genome.wustl.edu 37 17 10707112 10707112 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 17 10707112 10707112 G T SNP LINC00675 ENST00000580310 human ensembl 70_37 -1 novel missense c.169 p.L57I 0.173 NULL NULL - no_errors LINC00675 HGNC ENSG00000263429 18 8 30.77 19 0 0.00 LINC00680 0 genome.wustl.edu 37 6 58276103 58276103 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 58276103 58276103 C T SNP LINC00680 ENST00000422882 human ensembl 70_37 -1 known rna NULL NULL 0.427 - - - no_errors LINC00680 HGNC ENSG00000215190 24 12 33.33 28 0 0.00 LINC00686 140865 genome.wustl.edu 37 20 61331798 61331798 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 61331798 61331798 C A SNP LINC00686 ENST00000435412 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00686 HGNC ENSG00000237687 24 14 36.84 22 0 0.00 LINGO1 84894 genome.wustl.edu 37 15 77906551 77906551 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 77906551 77906551 G A SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known silent c.1698 p.I566 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 15 30 65.22 70 0 0.00 LINGO1 84894 genome.wustl.edu 37 15 77906661 77906661 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 77906661 77906661 C T SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.1588 p.A530T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 58 7 10.45 80 0 0.00 LINGO1 84894 genome.wustl.edu 37 15 77907516 77907516 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 77907516 77907516 C G SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.733 p.E245Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 35 12 25.53 66 0 0.00 LINGO1 84894 genome.wustl.edu 37 15 77907603 77907603 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 77907603 77907603 C T SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.646 p.G216S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 49 17 25.76 35 0 0.00 LINGO2 158038 genome.wustl.edu 37 9 27949151 27949151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 27949151 27949151 G A SNP LINGO2 ENST00000308675 human ensembl 70_37 -1 known missense c.1519 p.R507C 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 43 12 21.82 77 0 0.00 LINGO2 158038 genome.wustl.edu 37 9 27949873 27949873 + Missense_Mutation SNP A A T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 27949873 27949873 A T SNP LINGO2 ENST00000308675 human ensembl 70_37 -1 known missense c.797 p.F266Y 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 76 14 15.56 74 0 0.00 LINGO2 158038 genome.wustl.edu 37 9 28295239 28295239 + RNA SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 28295239 28295239 C T SNP LINGO2 ENST00000493941 human ensembl 70_37 -1 known rna NULL NULL 0.966 - - - no_errors LINGO2 HGNC ENSG00000174482 37 6 13.95 36 0 0.00 LINGO3 645191 genome.wustl.edu 37 19 2290031 2290031 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 2290031 2290031 C T SNP LINGO3 ENST00000585527 human ensembl 70_37 -1 known missense c.1910 p.G637E 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO3 HGNC ENSG00000220008 21 5 19.23 39 0 0.00 LINGO4 339398 genome.wustl.edu 37 1 151773446 151773446 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151773446 151773446 C G SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.1735 p.G579R 0.960 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 16 11 40.74 29 0 0.00 LINGO4 339398 genome.wustl.edu 37 1 151774280 151774280 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151774280 151774280 G A SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.901 p.R301W 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 28 10 26.32 60 0 0.00 LINGO4 339398 genome.wustl.edu 37 1 151775027 151775027 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151775027 151775027 C G SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 19 11 36.67 32 0 0.00 LINS 55180 genome.wustl.edu 37 15 101109673 101109673 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 101109673 101109673 G C SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.2044 p.L682V 0.003 NULL NULL - no_errors LINS HGNC ENSG00000140471 26 21 44.68 27 0 0.00 LINS 55180 genome.wustl.edu 37 15 101110021 101110021 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 101110021 101110021 C G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.1696 p.D566H 0.127 NULL NULL - no_errors LINS HGNC ENSG00000140471 52 8 13.33 56 0 0.00 LINS 55180 genome.wustl.edu 37 15 101110081 101110081 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 101110081 101110081 C G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.1636 p.D546H 0.360 NULL NULL - no_errors LINS HGNC ENSG00000140471 17 13 43.33 35 0 0.00 LINS 55180 genome.wustl.edu 37 15 101120525 101120525 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101120525 101120525 T G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.432 p.L144F 0.997 NULL NULL - no_errors LINS HGNC ENSG00000140471 17 20 54.05 71 0 0.00 LINS 55180 genome.wustl.edu 37 15 101121020 101121020 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 101121020 101121020 C T SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.28 p.E10K 0.759 NULL NULL - no_errors LINS HGNC ENSG00000140471 20 4 16.67 34 0 0.00 LINS 55180 genome.wustl.edu 37 15 101121044 101121044 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101121044 101121044 T G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.4 p.K2Q 0.476 NULL NULL - no_errors LINS HGNC ENSG00000140471 13 6 31.58 36 0 0.00 LIPA 3988 genome.wustl.edu 37 10 90983552 90983552 + Silent SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 90983552 90983552 A G SNP LIPA ENST00000425287 human ensembl 70_37 -1 known silent c.717 p.S239 0.011 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 11 4 26.67 11 0 0.00 LIPA 3988 genome.wustl.edu 37 10 90984904 90984904 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 90984904 90984904 G A SNP LIPA ENST00000425287 human ensembl 70_37 -1 known missense c.626 p.A209V 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 3 33 91.67 31 0 0.00 LIPA 3988 genome.wustl.edu 37 10 90984904 90984904 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 90984904 90984904 G A SNP LIPA ENST00000425287 human ensembl 70_37 -1 known missense c.626 p.A209V 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 39 126 75.90 307 0 0.00 LIPC 3990 genome.wustl.edu 37 15 58838164 58838164 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 58838164 58838164 C T SNP LIPC ENST00000299022 human ensembl 70_37 +1 known silent c.798 p.H266 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 46 6 11.54 23 0 0.00 LIPC 3990 genome.wustl.edu 37 15 58853062 58853062 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 58853062 58853062 G C SNP LIPC ENST00000299022 human ensembl 70_37 +1 known splice_site c.1052-1 e7-1 1.000 - - - no_errors LIPC HGNC ENSG00000166035 23 22 48.89 54 0 0.00 LIPC 3990 genome.wustl.edu 37 15 58853088 58853088 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 58853088 58853088 G C SNP LIPC ENST00000299022 human ensembl 70_37 +1 known missense c.1077 p.Q359H 0.942 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 33 27 45.00 61 0 0.00 LIPE 3991 genome.wustl.edu 37 19 42911508 42911508 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 42911508 42911508 C G SNP LIPE ENST00000244289 human ensembl 70_37 -1 known missense c.1955 p.G652A 0.994 pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 11 14 53.85 65 0 0.00 LIPE 3991 genome.wustl.edu 37 19 42930555 42930555 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42930555 42930555 C T SNP LIPE ENST00000244289 human ensembl 70_37 -1 known silent c.747 p.T249 0.000 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 13 10 43.48 63 0 0.00 LIPE 3991 genome.wustl.edu 37 19 42931144 42931144 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42931144 42931144 G A SNP LIPE ENST00000244289 human ensembl 70_37 -1 known missense c.158 p.S53L 0.001 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 53 23 30.26 66 0 0.00 LIPF 8513 genome.wustl.edu 37 10 90427329 90427329 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 90427329 90427329 C T SNP LIPF ENST00000394375 human ensembl 70_37 +1 known nonsense c.139 p.Q47* 0.993 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 95 31 24.60 131 0 0.00 LIPG 9388 genome.wustl.edu 37 18 47093845 47093845 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 47093845 47093845 C G SNP LIPG ENST00000261292 human ensembl 70_37 +1 known missense c.313 p.L105V 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 21 19 47.50 28 0 0.00 LIPG 9388 genome.wustl.edu 37 18 47101933 47101933 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 18 47101933 47101933 G A SNP LIPG ENST00000261292 human ensembl 70_37 +1 known missense c.766 p.D256N 0.956 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 33 16 32.65 68 0 0.00 LIPH 200879 genome.wustl.edu 37 3 185229347 185229347 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 185229347 185229347 G C SNP LIPH ENST00000296252 human ensembl 70_37 -1 known silent c.1233 p.L411 0.883 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 59 7 10.61 61 0 0.00 LIPH 200879 genome.wustl.edu 37 3 185232243 185232243 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 185232243 185232243 T G SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.1049 p.K350T 0.983 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 43 17 28.33 114 0 0.00 LIPH 200879 genome.wustl.edu 37 3 185236975 185236975 + Missense_Mutation SNP A A G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 185236975 185236975 A G SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.841 p.C281R 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 43 8 15.69 42 0 0.00 LIPH 200879 genome.wustl.edu 37 3 185252608 185252608 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 185252608 185252608 G C SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.362 p.S121C 0.603 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 51 9 15.00 40 0 0.00 LIPH 200879 genome.wustl.edu 37 3 185252685 185252685 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 185252685 185252685 C T SNP LIPH ENST00000296252 human ensembl 70_37 -1 known silent c.285 p.L95 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 316 46 12.64 213 0 0.00 LIPI 149998 genome.wustl.edu 37 21 15517001 15517001 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 15517001 15517001 G A SNP LIPI ENST00000344577 human ensembl 70_37 -1 known missense c.1301 p.S434F 0.009 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 30 27 47.37 54 0 0.00 LIPJ 142910 genome.wustl.edu 37 10 90353745 90353745 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 90353745 90353745 C G SNP LIPJ ENST00000371939 human ensembl 70_37 +1 known missense c.173 p.S58C 1.000 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 40 8 16.67 58 0 0.00 LIPK 643414 genome.wustl.edu 37 10 90490853 90490853 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 90490853 90490853 G A SNP LIPK ENST00000404190 human ensembl 70_37 +1 known missense c.337 p.V113M 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC ENSG00000204021 59 35 37.23 105 0 0.00 LIPK 643414 genome.wustl.edu 37 10 90492212 90492212 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 90492212 90492212 G A SNP LIPK ENST00000404190 human ensembl 70_37 +1 known silent c.573 p.K191 0.996 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC ENSG00000204021 9 9 50.00 25 0 0.00 LIPM 340654 genome.wustl.edu 37 10 90562694 90562694 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 90562694 90562694 G A SNP LIPM ENST00000404743 human ensembl 70_37 +1 known missense c.41 p.R14K 0.976 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPM HGNC ENSG00000173239 39 16 29.09 47 0 0.00 LIPT2 387787 genome.wustl.edu 37 11 74204305 74204305 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 74204305 74204305 G C SNP LIPT2 ENST00000310109 human ensembl 70_37 -1 known missense c.444 p.D148E 0.711 pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase - no_errors LIPT2 HGNC ENSG00000175536 37 22 37.29 22 0 0.00 LIX1 167410 genome.wustl.edu 37 5 96443085 96443085 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 96443085 96443085 C T SNP LIX1 ENST00000274382 human ensembl 70_37 -1 known silent c.366 p.Q122 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 53 19 26.39 63 0 0.00 LLGL1 3996 genome.wustl.edu 37 17 18138202 18138202 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 18138202 18138202 G A SNP LLGL1 ENST00000316843 human ensembl 70_37 +1 known missense c.955 p.D319N 0.999 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 8 23 74.19 66 0 0.00 LLGL1 3996 genome.wustl.edu 37 17 18141887 18141887 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 18141887 18141887 C T SNP LLGL1 ENST00000316843 human ensembl 70_37 +1 known missense c.2170 p.R724C 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 22 21 48.84 43 0 0.00 LLGL2 3993 genome.wustl.edu 37 17 73552126 73552126 + Splice_Site SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73552126 73552126 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known splice_site c.76-1 e2-1 1.000 - - - no_errors LLGL2 HGNC ENSG00000073350 91 28 23.53 131 0 0.00 LLGL2 3993 genome.wustl.edu 37 17 73559178 73559178 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 73559178 73559178 C T SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known silent c.612 p.I204 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 40 36 47.37 83 0 0.00 LLGL2 3993 genome.wustl.edu 37 17 73559502 73559502 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73559502 73559502 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.784 p.E262K 0.725 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 39 9 18.75 39 0 0.00 LLGL2 3993 genome.wustl.edu 37 17 73560506 73560506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73560506 73560506 C G SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.954 p.I318M 0.942 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 65 19 22.62 56 0 0.00 LLGL2 3993 genome.wustl.edu 37 17 73566530 73566530 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 73566530 73566530 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.1976 p.R659Q 0.927 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 12 6 33.33 24 0 0.00 LLPH 84298 genome.wustl.edu 37 12 66517664 66517664 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 66517664 66517664 T G SNP LLPH ENST00000266604 human ensembl 70_37 -1 known missense c.346 p.S116R 0.785 pfam_LAPS18-like pfam_LAPS18-like - no_errors LLPH HGNC ENSG00000139233 155 73 32.02 261 1 0.38 LMAN1 3998 genome.wustl.edu 37 18 56998762 56998762 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 56998762 56998762 C A SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known nonsense c.1384 p.E462* 1.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC ENSG00000074695 29 16 35.56 30 0 0.00 LMAN1 3998 genome.wustl.edu 37 18 57000397 57000397 + Missense_Mutation SNP G G T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 18 57000397 57000397 G T SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known missense c.1300 p.Q434K 1.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC ENSG00000074695 20 4 16.67 41 0 0.00 LMAN1 3998 genome.wustl.edu 37 18 57020469 57020469 + Nonsense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 18 57020469 57020469 G A SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known nonsense c.604 p.R202* 0.997 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC ENSG00000074695 69 65 48.51 114 1 0.87 LMAN1 3998 genome.wustl.edu 37 18 57020489 57020489 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 57020489 57020489 C G SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known missense c.584 p.R195P 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC ENSG00000074695 140 28 16.67 112 0 0.00 LMAN1L 79748 genome.wustl.edu 37 15 75105286 75105286 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 75105286 75105286 C T SNP LMAN1L ENST00000309664 human ensembl 70_37 +1 known missense c.91 p.R31C 0.776 superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 30 6 16.67 33 0 0.00 LMAN2L 81562 genome.wustl.edu 37 2 97377743 97377743 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 97377743 97377743 G A SNP LMAN2L ENST00000440610 human ensembl 70_37 -1 known nonsense c.325 p.Q109* 1.000 NULL NULL - no_errors LMAN2L HGNC ENSG00000114988 12 5 29.41 29 0 0.00 LMAN2L 81562 genome.wustl.edu 37 2 97405604 97405604 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 97405604 97405604 C T SNP LMAN2L ENST00000377079 human ensembl 70_37 -1 known silent c.174 p.S58 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 130 29 18.12 109 0 0.00 LMBR1L 55716 genome.wustl.edu 37 12 49496668 49496668 + Splice_Site SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 49496668 49496668 A G SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known splice_site c.696+2 e8+2 1.000 - - - no_errors LMBR1L HGNC ENSG00000139636 53 7 11.67 59 0 0.00 LMBR1L 55716 genome.wustl.edu 37 12 49498592 49498592 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 49498592 49498592 C T SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known missense c.268 p.E90K 1.000 pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 10 4 28.57 17 0 0.00 LMBR1L 55716 genome.wustl.edu 37 12 49504305 49504305 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 49504305 49504305 G A SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known nonsense c.34 p.R12* 1.000 NULL pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 94 43 31.39 162 0 0.00 LMBR1L 55716 genome.wustl.edu 37 12 49504417 49504417 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 49504417 49504417 C A SNP LMBR1L ENST00000548983 human ensembl 70_37 -1 known rna NULL NULL 0.787 - - - no_errors LMBR1L HGNC ENSG00000139636 30 14 31.82 78 0 0.00 LMBRD1 55788 genome.wustl.edu 37 6 70407490 70407490 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 70407490 70407490 G A SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.1382 p.S461F 0.320 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 40 22 34.92 59 0 0.00 LMBRD1 55788 genome.wustl.edu 37 6 70411822 70411822 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 70411822 70411822 G T SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known silent c.939 p.I313 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 12 3 20.00 22 0 0.00 LMBRD1 55788 genome.wustl.edu 37 6 70462177 70462177 + Missense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 70462177 70462177 C A SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.379 p.D127Y 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 24 8 25.00 25 0 0.00 LMBRD1 55788 genome.wustl.edu 37 6 70500257 70500257 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 70500257 70500257 G C SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.177 p.I59M 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 64 13 16.88 76 0 0.00 LMCD1 29995 genome.wustl.edu 37 3 8590398 8590398 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 8590398 8590398 G C SNP LMCD1 ENST00000157600 human ensembl 70_37 +1 known missense c.532 p.E178Q 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 31 10 24.39 33 0 0.00 LMF2 91289 genome.wustl.edu 37 22 50942059 50942059 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 50942059 50942059 G A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known nonsense c.1885 p.Q629* 0.917 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 72 25 25.77 111 0 0.00 LMF2 91289 genome.wustl.edu 37 22 50943260 50943260 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50943260 50943260 C A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known nonsense c.1408 p.E470* 1.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 43 8 15.69 54 0 0.00 LMF2 91289 genome.wustl.edu 37 22 50944111 50944111 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 50944111 50944111 G A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known missense c.908 p.T303M 0.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 18 16 47.06 10 0 0.00 LMLN 89782 genome.wustl.edu 37 3 197701344 197701344 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197701344 197701344 G C SNP LMLN ENST00000330198 human ensembl 70_37 +1 known missense c.316 p.E106Q 0.997 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 53 23 30.26 57 0 0.00 LMLN 89782 genome.wustl.edu 37 3 197712736 197712736 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 197712736 197712736 G C SNP LMLN ENST00000330198 human ensembl 70_37 +1 known missense c.904 p.D302H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 116 45 27.78 105 0 0.00 LMLN 89782 genome.wustl.edu 37 3 197748331 197748331 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 197748331 197748331 C T SNP LMLN ENST00000330198 human ensembl 70_37 +1 known silent c.1380 p.L460 0.987 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 57 14 19.72 27 0 0.00 LMNA 4000 genome.wustl.edu 37 1 156105656 156105656 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 156105656 156105656 C T SNP LMNA ENST00000496738 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors LMNA HGNC ENSG00000160789 15 10 40.00 15 0 0.00 LMNB1 4001 genome.wustl.edu 37 5 126113469 126113469 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 126113469 126113469 G A SNP LMNB1 ENST00000261366 human ensembl 70_37 +1 known missense c.269 p.R90Q 1.000 pfam_F pfam_F,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 22 13 37.14 23 0 0.00 LMNB2 84823 genome.wustl.edu 37 19 2434313 2434313 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 2434313 2434313 G A SNP LMNB2 ENST00000325327 human ensembl 70_37 -1 known silent c.1182 p.L394 0.876 pfam_F pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 30 15 33.33 27 0 0.00 LMO1 4004 genome.wustl.edu 37 11 8246193 8246193 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 8246193 8246193 G A SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known silent c.441 p.L147 1.000 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 9 7 43.75 31 0 0.00 LMO1 4004 genome.wustl.edu 37 11 8251849 8251849 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 8251849 8251849 G A SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known silent c.228 p.R76 0.334 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 50 7 12.28 84 0 0.00 LMO1 4004 genome.wustl.edu 37 11 8251899 8251899 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 8251899 8251899 C T SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known missense c.178 p.E60K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 50 11 18.03 106 0 0.00 LMO3 55885 genome.wustl.edu 37 12 16753787 16753787 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 16753787 16753787 G C SNP LMO3 ENST00000541295 human ensembl 70_37 -1 known nonsense c.62 p.S21* 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 16 4 20.00 27 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76195958 76195958 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 76195958 76195958 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.129 p.I43M 0.000 superfamily_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 45 14 23.73 79 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76374891 76374891 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 76374891 76374891 A C SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.690 p.E230D 0.280 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 17 5 22.73 63 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76374956 76374956 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 76374956 76374956 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.755 p.S252C 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 14 10 41.67 75 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76379796 76379796 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 13 76379796 76379796 G C SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.1252 p.D418H 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 22 11 33.33 23 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76395533 76395533 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 76395533 76395533 C T SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known nonsense c.2584 p.Q862* 0.016 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 56 9 13.43 39 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76395627 76395627 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 76395627 76395627 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known nonsense c.2678 p.S893* 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 14 7 33.33 76 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76395705 76395705 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 76395705 76395705 C T SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.2756 p.S919F 0.988 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 40 5 11.11 27 0 0.00 LMO7 4008 genome.wustl.edu 37 13 76415797 76415797 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 76415797 76415797 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.3865 p.L1289V 0.001 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 11 6 35.29 30 0 0.00 LMOD1 25802 genome.wustl.edu 37 1 201868709 201868709 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 201868709 201868709 G A SNP LMOD1 ENST00000367288 human ensembl 70_37 -1 known missense c.1432 p.R478W 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 34 11 24.44 77 0 0.00 LMOD1 25802 genome.wustl.edu 37 1 201869359 201869359 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201869359 201869359 T C SNP LMOD1 ENST00000367288 human ensembl 70_37 -1 known missense c.782 p.N261S 0.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 52 20 27.78 75 0 0.00 LMOD2 442721 genome.wustl.edu 37 7 123296144 123296144 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 123296144 123296144 G C SNP LMOD2 ENST00000458573 human ensembl 70_37 +1 known missense c.127 p.D43H 0.998 pfam_Tropomodulin pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 11 11 50.00 24 0 0.00 LMOD2 442721 genome.wustl.edu 37 7 123303077 123303077 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 123303077 123303077 G C SNP LMOD2 ENST00000458573 human ensembl 70_37 +1 known missense c.1437 p.K479N 1.000 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 26 6 18.75 12 0 0.00 LMOD3 56203 genome.wustl.edu 37 3 69168914 69168914 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 69168914 69168914 C T SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.592 p.E198K 0.100 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 129 49 27.53 169 0 0.00 LMOD3 56203 genome.wustl.edu 37 3 69171455 69171455 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 69171455 69171455 G A SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.83 p.S28F 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 4 16 76.19 40 0 0.00 LMOD3 56203 genome.wustl.edu 37 3 69171504 69171504 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 69171504 69171504 C G SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.34 p.E12Q 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 29 7 19.44 26 0 0.00 LMTK2 22853 genome.wustl.edu 37 7 97820151 97820151 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 97820151 97820151 C T SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.1110 p.L370 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 16 13 44.83 34 0 0.00 LMTK2 22853 genome.wustl.edu 37 7 97821308 97821308 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 97821308 97821308 G C SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 27 21 43.75 68 0 0.00 LMTK2 22853 genome.wustl.edu 37 7 97821550 97821550 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 97821550 97821550 G A SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.1773 p.A591 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 22 12 35.29 29 0 0.00 LMTK2 22853 genome.wustl.edu 37 7 97823402 97823402 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 97823402 97823402 C T SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known missense c.3625 p.L1209F 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 20 9 31.03 44 0 0.00 LMTK2 22853 genome.wustl.edu 37 7 97833404 97833404 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 97833404 97833404 G A SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.4389 p.P1463 0.003 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 22 21 48.84 37 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 48994757 48994757 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 48994757 48994757 C T SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.4219 p.E1407K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 86 14 13.86 70 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 49000803 49000803 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 49000803 49000803 C T SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.3610 p.E1204K 0.993 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 19 12 38.71 54 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 49001792 49001792 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 49001792 49001792 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.2621 p.P874L 0.099 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 7 5 41.67 18 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 49004787 49004787 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 49004787 49004787 G C SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.914 p.S305C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 13 3 18.75 20 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 49013817 49013817 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49013817 49013817 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.196 p.P66S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 19 8 29.63 30 0 0.00 LMTK3 114783 genome.wustl.edu 37 19 49013842 49013842 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49013842 49013842 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known silent c.171 p.F57 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 23 6 20.69 24 0 0.00 LMX1A 4009 genome.wustl.edu 37 1 165173199 165173199 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 165173199 165173199 G C SNP LMX1A ENST00000294816 human ensembl 70_37 -1 known nonsense c.1067 p.S356* 0.997 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1A HGNC ENSG00000162761 235 42 15.16 194 0 0.00 LMX1B 4010 genome.wustl.edu 37 9 129453255 129453255 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 129453255 129453255 T G SNP LMX1B ENST00000355497 human ensembl 70_37 +1 known missense c.467 p.F156C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1B HGNC ENSG00000136944 22 25 53.19 75 0 0.00 LNP1 348801 genome.wustl.edu 37 3 100170714 100170714 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 100170714 100170714 G C SNP LNP1 ENST00000383693 human ensembl 70_37 +1 known missense c.308 p.R103T 0.991 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 43 10 18.87 45 0 0.00 LNP1 348801 genome.wustl.edu 37 3 100170714 100170714 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 100170714 100170714 G C SNP LNP1 ENST00000383693 human ensembl 70_37 +1 known missense c.308 p.R103T 0.991 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 97 11 10.19 151 0 0.00 LNPEP 4012 genome.wustl.edu 37 5 96322254 96322254 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 96322254 96322254 C T SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known silent c.1011 p.V337 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 2 7 77.78 38 0 0.00 LNPEP 4012 genome.wustl.edu 37 5 96322254 96322254 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 96322254 96322254 C T SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known silent c.1011 p.V337 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 66 87 56.13 296 0 0.00 LNPEP 4012 genome.wustl.edu 37 5 96350789 96350789 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 96350789 96350789 C G SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known nonsense c.2366 p.S789* 0.657 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 73 40 35.40 90 0 0.00 LNX1 84708 genome.wustl.edu 37 4 54347998 54347998 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 54347998 54347998 G A SNP LNX1 ENST00000263925 human ensembl 70_37 -1 known silent c.1374 p.L458 0.878 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 38 16 29.63 47 0 0.00 LNX1 84708 genome.wustl.edu 37 4 54439888 54439888 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 54439888 54439888 G A SNP LNX1 ENST00000263925 human ensembl 70_37 -1 known silent c.282 p.V94 0.994 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 41 9 18.00 46 0 0.00 LNX2 222484 genome.wustl.edu 37 13 28122532 28122532 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 28122532 28122532 C T SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known silent c.2013 p.L671 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 25 12 32.43 30 0 0.00 LNX2 222484 genome.wustl.edu 37 13 28122595 28122595 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 13 28122595 28122595 C G SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known missense c.1950 p.M650I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 35 17 32.69 45 0 0.00 LNX2 222484 genome.wustl.edu 37 13 28155748 28155748 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 28155748 28155748 C T SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known nonsense c.93 p.W31* 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 2 10 83.33 21 0 0.00 LOC100049716 100049716 genome.wustl.edu 37 12 752531 752531 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 752531 752531 G A SNP LOC100049716 ENST00000318291 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-218M22.1 Clone_based_vega_gene ENSG00000177406 19 8 29.63 16 0 0.00 LOC100049716 100049716 genome.wustl.edu 37 12 752874 752874 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 752874 752874 C T SNP LOC100049716 ENST00000318291 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-218M22.1 Clone_based_vega_gene ENSG00000177406 10 9 47.37 15 0 0.00 LOC100049716 100049716 genome.wustl.edu 37 12 772689 772689 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 772689 772689 G A SNP LOC100049716 ENST00000543884 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-218M22.1 Clone_based_vega_gene ENSG00000177406 49 10 16.95 34 0 0.00 LOC100127974 100127974 genome.wustl.edu 37 12 6692553 6692553 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6692553 6692553 G A SNP LOC100127974 ENST00000501075 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-940J5.6 Clone_based_vega_gene ENSG00000247853 33 16 32.65 31 0 0.00 LOC100128002 100128002 genome.wustl.edu 37 12 132147531 132147531 + RNA SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 132147531 132147531 A G SNP LOC100128002 ENST00000508145 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-495K9.6 Clone_based_vega_gene ENSG00000249926 32 14 30.43 33 0 0.00 LOC100128131 100128131 genome.wustl.edu 37 2 105484677 105484677 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 105484677 105484677 G A SNP LOC100128131 ENST00000433433 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC018730.3 Clone_based_vega_gene ENSG00000229743 28 14 33.33 21 0 0.00 LOC100128164 100128164 genome.wustl.edu 37 3 169664440 169664440 + RNA SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 169664440 169664440 C G SNP LOC100128164 ENST00000483289 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 11 8 42.11 14 0 0.00 LOC100128164 100128164 genome.wustl.edu 37 3 169684476 169684476 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 169684476 169684476 C T SNP LOC100128164 ENST00000469301 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 24 21 46.67 30 0 0.00 LOC100128239 100128239 genome.wustl.edu 37 11 133902198 133902198 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 133902198 133902198 C T SNP LOC100128239 ENST00000533922 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-713P17.3 Clone_based_vega_gene ENSG00000204241 16 4 20.00 28 0 0.00 LOC100128252 100128252 genome.wustl.edu 37 19 57006285 57006285 + RNA SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 57006285 57006285 T C SNP LOC100128252 ENST00000585445 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors AC004696.2 Clone_based_vega_gene ENSG00000166770 32 6 15.79 45 0 0.00 LOC100128252 100128252 genome.wustl.edu 37 19 57006562 57006562 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57006562 57006562 G C SNP LOC100128252 ENST00000299997 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AC004696.2 Clone_based_vega_gene ENSG00000166770 16 7 30.43 12 0 0.00 LOC100128340 100128340 genome.wustl.edu 37 5 177309472 177309472 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 177309472 177309472 A G SNP LOC100128340 ENST00000358442 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 111 15 11.90 174 1 0.57 LOC100128340 100128340 genome.wustl.edu 37 5 177309503 177309503 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 177309503 177309503 G A SNP LOC100128340 ENST00000358442 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 55 8 12.70 57 0 0.00 LOC100128340 100128340 genome.wustl.edu 37 5 177310846 177310846 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 177310846 177310846 G A SNP LOC100128340 ENST00000506672 human ensembl 70_37 +1 known rna NULL NULL 0.672 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 10 7 41.18 16 0 0.00 LOC100128682 100128682 genome.wustl.edu 37 19 35899196 35899196 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 35899196 35899196 T A SNP LOC100128682 ENST00000536898 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AC002511.1 Clone_based_vega_gene ENSG00000205786 11 12 52.17 10 0 0.00 LOC100128714 100128714 genome.wustl.edu 37 15 26260632 26260632 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 26260632 26260632 C T SNP LOC100128714 ENST00000383019 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene ENSG00000206187 21 4 16.00 38 0 0.00 LOC100128750 100128750 genome.wustl.edu 37 8 30240880 30240881 + Splice_Site INS - - AAA TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 30240880 30240881 - AAA INS LOC100128750 ENST00000519753 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors CTD-3107M8.4 Clone_based_vega_gene ENSG00000254109 19 6 24.00 35 0 0.00 LOC100128770 100128770 genome.wustl.edu 37 16 3086057 3086057 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3086057 3086057 C T SNP LOC100128770 ENST00000382225 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.5 Clone_based_vega_gene ENSG00000205890 53 9 14.52 37 0 0.00 LOC100128881 100128881 genome.wustl.edu 37 16 89784087 89784087 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 89784087 89784087 G A SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene ENSG00000261373 39 7 15.22 60 0 0.00 LOC100128881 100128881 genome.wustl.edu 37 16 89784167 89784167 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89784167 89784167 C T SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene ENSG00000261373 105 33 23.91 111 0 0.00 LOC100128881 100128881 genome.wustl.edu 37 16 89784301 89784301 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89784301 89784301 C G SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene ENSG00000261373 175 65 27.08 179 0 0.00 LOC100128946 100128946 genome.wustl.edu 37 22 49290785 49290785 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 49290785 49290785 G A SNP LOC100128946 ENST00000380981 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors WI2-81516E3.1 Clone_based_vega_gene ENSG00000205632 39 23 37.10 62 0 0.00 LOC100128979 100128979 genome.wustl.edu 37 15 63340990 63340990 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 63340990 63340990 C T SNP LOC100128979 ENST00000561241 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-244F12.3 Clone_based_vega_gene ENSG00000259498 30 6 16.67 31 0 0.00 LOC100128979 100128979 genome.wustl.edu 37 15 63340993 63340993 + RNA SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 63340993 63340993 A C SNP LOC100128979 ENST00000561241 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-244F12.3 Clone_based_vega_gene ENSG00000259498 32 4 11.11 32 0 0.00 LOC100128979 100128979 genome.wustl.edu 37 15 63341214 63341214 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 63341214 63341214 C T SNP LOC100128979 ENST00000560903 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-244F12.3 Clone_based_vega_gene ENSG00000259498 111 28 20.14 120 0 0.00 LOC100129027 100129027 genome.wustl.edu 37 21 47250213 47250213 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47250213 47250213 G A SNP LOC100129027 ENST00000380008 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AL592528.1 Clone_based_vega_gene ENSG00000205424 24 8 25.00 28 0 0.00 LOC100129060 100129060 genome.wustl.edu 37 3 50153540 50153540 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 50153540 50153540 C T SNP LOC100129060 ENST00000437204 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-493K19.3 Clone_based_vega_gene ENSG00000235016 15 8 34.78 24 0 0.00 LOC100129213 100129213 genome.wustl.edu 37 10 18292097 18292097 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 18292097 18292097 C T SNP LOC100129213 ENST00000439319 human ensembl 70_37 -1 known rna NULL NULL 0.945 - - - no_errors RP11-110H10.2 Clone_based_vega_gene ENSG00000226083 136 56 29.17 182 0 0.00 LOC100129345 100129345 genome.wustl.edu 37 14 98099162 98099162 + RNA SNP A A T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 14 98099162 98099162 A T SNP LOC100129345 ENST00000355909 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-76E12.1 Clone_based_vega_gene ENSG00000197176 35 31 46.97 40 0 0.00 LOC100129434 100129434 genome.wustl.edu 37 2 56403137 56403137 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 56403137 56403137 C G SNP LOC100129434 ENST00000432793 human ensembl 70_37 -1 known rna NULL NULL 0.254 - - - no_errors AC007743.1 Clone_based_vega_gene ENSG00000233251 40 26 39.39 55 0 0.00 LOC100129620 100129620 genome.wustl.edu 37 1 99469973 99469973 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 99469973 99469973 G A SNP LOC100129620 ENST00000425113 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-896L10.1 Clone_based_vega_gene ENSG00000232825 31 11 25.58 74 0 0.00 LOC100129858 100129858 genome.wustl.edu 37 4 141214528 141214528 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 4 141214528 141214528 C T SNP LOC100129858 ENST00000512692 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-425I13.3 Clone_based_vega_gene ENSG00000196951 48 32 40.00 68 0 0.00 LOC100129931 100129931 genome.wustl.edu 37 4 7033827 7033827 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 7033827 7033827 C G SNP LOC100129931 ENST00000500031 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-367J11.2 Clone_based_vega_gene ENSG00000245748 8 7 46.67 23 0 0.00 LOC100130015 100130015 genome.wustl.edu 37 16 90110172 90110172 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 90110172 90110172 C T SNP LOC100130015 ENST00000517889 human ensembl 70_37 -1 novel missense c.334 p.A112T 0.009 NULL pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF - no_errors AC133919.6 Clone_based_vega_gene ENSG00000222019 42 20 32.26 75 0 0.00 LOC100130172 100130172 genome.wustl.edu 37 5 137372052 137372052 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137372052 137372052 C T SNP LOC100130172 ENST00000500267 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors RP11-325L7.1 Clone_based_vega_gene ENSG00000246323 24 12 33.33 29 0 0.00 LOC100130331 100130331 genome.wustl.edu 37 1 238090796 238090796 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 238090796 238090796 C T SNP LOC100130331 ENST00000450451 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 14 6 30.00 22 0 0.00 LOC100130502 100130502 genome.wustl.edu 37 2 45148627 45148627 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 45148627 45148627 G T SNP LOC100130502 ENST00000354756 human ensembl 70_37 -1 known rna NULL NULL 0.074 - - - no_errors RP11-89K21.1 Clone_based_vega_gene ENSG00000259439 29 4 12.12 40 0 0.00 LOC100130581 100130581 genome.wustl.edu 37 17 41456625 41456625 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41456625 41456625 C T SNP LOC100130581 ENST00000341011 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3014M21.4 Clone_based_vega_gene ENSG00000188825 19 15 44.12 24 0 0.00 LOC100130855 100130855 genome.wustl.edu 37 15 63881069 63881069 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 63881069 63881069 C T SNP LOC100130855 ENST00000558831 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-265M18.2 Clone_based_vega_gene ENSG00000259248 185 62 25.00 279 0 0.00 LOC100130894 100130894 genome.wustl.edu 37 16 70789069 70789069 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70789069 70789069 C G SNP LOC100130894 ENST00000398177 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-394B2.4 Clone_based_vega_gene ENSG00000214353 8 31 79.49 61 0 0.00 LOC100131089 100131089 genome.wustl.edu 37 15 40357969 40357970 + RNA INS - - A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 40357969 40357970 - A INS LOC100131089 ENST00000504245 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-521C20.4 Clone_based_vega_gene ENSG00000248508 36 5 12.20 59 0 0.00 LOC100131096 100131096 genome.wustl.edu 37 17 76105446 76105446 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76105446 76105446 C T SNP LOC100131096 ENST00000374976 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-153A23.6 Clone_based_vega_gene ENSG00000204282 30 19 38.78 81 0 0.00 LOC100131320 100131320 genome.wustl.edu 37 2 130724286 130724287 + RNA INS - - C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 130724286 130724287 - C INS LOC100131320 ENST00000412425 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors AC079776.7 Clone_based_vega_gene ENSG00000225449 39 16 29.09 43 0 0.00 LOC100131691 100131691 genome.wustl.edu 37 19 59084045 59084045 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 59084045 59084045 G T SNP LOC100131691 ENST00000600534 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC016629.8 Clone_based_vega_gene ENSG00000267858 23 4 14.81 36 0 0.00 LOC100131726 100131726 genome.wustl.edu 37 8 124214648 124214648 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 124214648 124214648 C T SNP LOC100131726 ENST00000517519 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors RP11-539E17.4 Clone_based_vega_gene ENSG00000204949 59 33 35.87 85 0 0.00 LOC100131825 100131825 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 24 3 11.11 25 0 0.00 LOC100131825 100131825 genome.wustl.edu 37 1 159166883 159166883 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 159166883 159166883 C T SNP LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 46 13 22.03 68 0 0.00 LOC100131825 100131825 genome.wustl.edu 37 1 159170740 159170740 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 159170740 159170740 C T SNP LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.796 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 46 10 17.86 45 0 0.00 LOC100132077 100132077 genome.wustl.edu 37 9 97123046 97123046 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 97123046 97123046 G A SNP LOC100132077 ENST00000454869 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-307E17.8 Clone_based_vega_gene ENSG00000232063 30 18 37.50 40 0 0.00 LOC100132159 100132159 genome.wustl.edu 37 10 5557902 5557902 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 5557902 5557902 G A SNP LOC100132159 ENST00000380330 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-116G8.4 Clone_based_vega_gene ENSG00000205488 61 18 22.78 45 0 0.00 LOC100132159 100132159 genome.wustl.edu 37 10 5558145 5558146 + RNA INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 5558145 5558146 - C INS LOC100132159 ENST00000380330 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-116G8.4 Clone_based_vega_gene ENSG00000205488 67 16 19.28 76 0 0.00 LOC100132247 100132247 genome.wustl.edu 37 16 22545321 22545321 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 22545321 22545321 C G SNP LOC100132247 ENST00000424340 human ensembl 70_37 +1 known silent c.1017 p.L339 0.885 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000243716 32 5 13.51 84 0 0.00 LOC100132247 100132247 genome.wustl.edu 37 16 22545935 22545935 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22545935 22545935 C T SNP LOC100132247 ENST00000424340 human ensembl 70_37 +1 known missense c.1631 p.S544L 0.015 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000243716 52 16 23.53 78 0 0.00 LOC100132815 100132815 genome.wustl.edu 37 19 23456955 23456955 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 23456955 23456955 G A SNP LOC100132815 ENST00000593324 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-15H20.6 Clone_based_vega_gene ENSG00000213971 2 4 66.67 9 0 0.00 LOC100132891 100132891 genome.wustl.edu 37 8 72965869 72965869 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 72965869 72965869 C A SNP LOC100132891 ENST00000457356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 26 16 38.10 35 0 0.00 LOC100132891 100132891 genome.wustl.edu 37 8 72967862 72967862 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 72967862 72967862 T C SNP LOC100132891 ENST00000457356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 35 7 16.67 68 0 0.00 LOC100133077 100133077 genome.wustl.edu 37 9 140785082 140785082 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 140785082 140785082 G A SNP LOC100133077 ENST00000371390 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 110 24 17.78 59 0 0.00 LOC100133077 100133077 genome.wustl.edu 37 9 140785159 140785159 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 9 140785159 140785159 C T SNP LOC100133077 ENST00000371390 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 92 19 17.12 40 0 0.00 LOC100133091 100133091 genome.wustl.edu 37 7 76179053 76179053 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 76179053 76179053 C G SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.960 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 15 5 25.00 15 0 0.00 LOC100133091 100133091 genome.wustl.edu 37 7 76255948 76255948 + RNA SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 76255948 76255948 A T SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 59 8 11.94 28 0 0.00 LOC100133091 100133091 genome.wustl.edu 37 7 76255977 76255977 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76255977 76255977 C G SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.079 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 9 20 68.97 62 0 0.00 LOC100133267 100133267 genome.wustl.edu 37 8 11929234 11929234 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 11929234 11929234 G A SNP LOC100133267 ENST00000437818 human ensembl 70_37 -1 putative missense c.23 p.S8F 0.559 NULL pfam_Defensin_beta-typ - no_errors DEFB130 Uniprot_genename ENSG00000233050 9 3 25.00 28 0 0.00 LOC100133669 100133669 genome.wustl.edu 37 8 144089674 144089674 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 8 144089674 144089674 C A SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.474 - - - no_errors RP11-273G15.2 Clone_based_vega_gene ENSG00000247317 11 3 21.43 18 0 0.00 LOC100133669 100133669 genome.wustl.edu 37 8 144090003 144090003 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 144090003 144090003 G A SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-273G15.2 Clone_based_vega_gene ENSG00000247317 50 26 34.21 27 0 0.00 LOC100133669 100133669 genome.wustl.edu 37 8 144090068 144090068 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 144090068 144090068 G C SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors RP11-273G15.2 Clone_based_vega_gene ENSG00000247317 39 27 40.91 28 0 0.00 LOC100134229 100134229 genome.wustl.edu 37 7 139878081 139878081 + RNA SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 139878081 139878081 T C SNP LOC100134229 ENST00000566699 human ensembl 70_37 +1 known rna NULL NULL 0.131 - - - no_errors RP4-659J6.2 Clone_based_vega_gene ENSG00000260231 2 4 66.67 9 0 0.00 LOC100134368 100134368 genome.wustl.edu 37 16 436837 436837 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 436837 436837 G A SNP LOC100134368 ENST00000457760 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors Z97634.5 Clone_based_vega_gene ENSG00000236829 86 10 10.42 117 0 0.00 LOC100134368 100134368 genome.wustl.edu 37 16 436993 436993 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 436993 436993 C G SNP LOC100134368 ENST00000457760 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors Z97634.5 Clone_based_vega_gene ENSG00000236829 98 32 24.62 133 0 0.00 LOC100144604 100144604 genome.wustl.edu 37 15 93114612 93114612 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 93114612 93114612 G A SNP LOC100144604 ENST00000557075 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-304N14.2 Clone_based_vega_gene ENSG00000258647 25 5 16.67 37 0 0.00 LOC100271702 100271702 genome.wustl.edu 37 12 2039913 2039913 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 2039913 2039913 C T SNP LOC100271702 ENST00000418006 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP5-1096D14.2 Clone_based_vega_gene ENSG00000235049 15 5 25.00 11 0 0.00 LOC100272228 100272228 genome.wustl.edu 37 X 149114055 149114055 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 149114055 149114055 C T SNP LOC100272228 ENST00000450989 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-507I23.1 Clone_based_vega_gene ENSG00000235703 17 7 29.17 18 0 0.00 LOC100272228 100272228 genome.wustl.edu 37 X 149391768 149391768 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 149391768 149391768 C T SNP LOC100272228 ENST00000449111 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-507I23.1 Clone_based_vega_gene ENSG00000235703 37 9 19.57 31 0 0.00 LOC100286922 100286922 genome.wustl.edu 37 2 234663465 234663465 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 234663465 234663465 C G SNP LOC100286922 ENST00000450901 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 7 25 78.12 40 0 0.00 LOC100286922 100286922 genome.wustl.edu 37 2 234663731 234663731 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 234663731 234663731 C T SNP LOC100286922 ENST00000389816 human ensembl 70_37 -1 known rna NULL NULL 0.234 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 50 13 20.63 103 0 0.00 LOC100287082 100287082 genome.wustl.edu 37 18 8695864 8695864 + RNA SNP A A C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 8695864 8695864 A C SNP LOC100287082 ENST00000579368 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-674N23.1 Clone_based_vega_gene ENSG00000265962 114 13 10.24 35 0 0.00 LOC100287225 100287225 genome.wustl.edu 37 18 49088593 49088593 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 49088593 49088593 C T SNP LOC100287225 ENST00000435144 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-267C16.1 Clone_based_vega_gene ENSG00000227115 35 12 25.00 25 0 0.00 LOC100287538 100287538 genome.wustl.edu 37 16 5289856 5289856 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 5289856 5289856 C G SNP LOC100287538 ENST00000569895 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-420N3.2 Clone_based_vega_gene ENSG00000260411 6 6 50.00 15 0 0.00 LOC100287792 100287792 genome.wustl.edu 37 20 36305446 36305446 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 36305446 36305446 C T SNP LOC100287792 ENST00000373508 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors RP4-640H8.2 Clone_based_vega_gene ENSG00000204117 75 27 26.47 73 0 0.00 LOC100287792 100287792 genome.wustl.edu 37 20 36306407 36306407 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 36306407 36306407 G T SNP LOC100287792 ENST00000373508 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP4-640H8.2 Clone_based_vega_gene ENSG00000204117 47 16 25.40 42 0 0.00 LOC100287879 100287879 genome.wustl.edu 37 3 64072797 64072797 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 64072797 64072797 C G SNP LOC100287879 ENST00000485805 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-129B22.2 Clone_based_vega_gene ENSG00000189196 21 22 51.16 70 0 0.00 LOC100287896 100287896 genome.wustl.edu 37 11 74208839 74208839 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 74208839 74208839 G A SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.424 - - - no_errors AP001372.2 Clone_based_vega_gene ENSG00000254837 12 4 25.00 22 0 0.00 LOC100287896 100287896 genome.wustl.edu 37 11 74208931 74208931 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74208931 74208931 C T SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.437 - - - no_errors AP001372.2 Clone_based_vega_gene ENSG00000254837 14 8 36.36 12 0 0.00 LOC100287896 100287896 genome.wustl.edu 37 11 74209056 74209056 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 74209056 74209056 C T SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.439 - - - no_errors AP001372.2 Clone_based_vega_gene ENSG00000254837 9 4 30.77 10 0 0.00 LOC100287934 100287934 genome.wustl.edu 37 1 721507 721507 + RNA SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 721507 721507 G A SNP LOC100287934 ENST00000358533 human ensembl 70_37 +1 known rna NULL NULL 0.066 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 62 49 44.14 101 1 0.98 LOC100288122 100288122 genome.wustl.edu 37 18 13423629 13423629 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 13423629 13423629 C G SNP LOC100288122 ENST00000588672 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-691H4.1 Clone_based_vega_gene ENSG00000267690 35 18 33.96 40 0 0.00 LOC100288332 100288332 genome.wustl.edu 37 16 15457666 15457666 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 16 15457666 15457666 C T SNP LOC100288332 ENST00000360151 human ensembl 70_37 -1 novel silent c.903 p.A301 0.000 pfam_NPIP pfam_NPIP - no_errors PKD1P1 Uniprot_genename ENSG00000183793 58 8 12.12 57 0 0.00 LOC100288332 100288332 genome.wustl.edu 37 16 15474827 15474827 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 15474827 15474827 C T SNP LOC100288332 ENST00000534094 human ensembl 70_37 -1 novel silent c.78 p.Q26 0.967 NULL pfam_NPIP - no_errors PKD1P1 Uniprot_genename ENSG00000183793 37 12 24.49 45 0 0.00 LOC100288332 100288332 genome.wustl.edu 37 16 16418925 16418925 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 16418925 16418925 C T SNP LOC100288332 ENST00000537112 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PKD1P1 Uniprot_genename ENSG00000183889 7 10 58.82 9 0 0.00 LOC100288332 100288332 genome.wustl.edu 37 16 18470621 18470621 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18470621 18470621 A G SNP LOC100288332 ENST00000546267 human ensembl 70_37 -1 known rna NULL NULL 0.618 - - - no_errors PKD1P1 Uniprot_genename ENSG00000233024 16 9 36.00 14 0 0.00 LOC100288332 100288332 genome.wustl.edu 37 16 18471002 18471002 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 18471002 18471002 C T SNP LOC100288332 ENST00000546267 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors PKD1P1 Uniprot_genename ENSG00000233024 73 22 23.16 93 0 0.00 LOC100288570 100288570 genome.wustl.edu 37 2 111144433 111144433 + RNA SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 111144433 111144433 T C SNP LOC100288570 ENST00000488671 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP13-1039J1.2 Clone_based_vega_gene ENSG00000184115 73 9 10.98 50 0 0.00 LOC100288570 100288570 genome.wustl.edu 37 2 111144867 111144867 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 111144867 111144867 G A SNP LOC100288570 ENST00000488671 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-1039J1.2 Clone_based_vega_gene ENSG00000184115 170 33 16.26 151 0 0.00 LOC100288966 100288966 genome.wustl.edu 37 GL000213.1 138882 138882 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d GL000213.1 138882 138882 G A SNP LOC100288966 ENST00000327822 human ensembl 70_37 -1 known missense c.406 p.R136C NULL NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BX072566.1 Clone_based_ensembl_gene ENSG00000237375 138 68 33.01 238 1 0.42 LOC100289090 100289090 genome.wustl.edu 37 15 42187240 42187240 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42187240 42187240 C T SNP LOC100289090 ENST00000309874 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-23P13.6 Clone_based_vega_gene ENSG00000174171 50 17 25.37 74 0 0.00 LOC100289388 100289388 genome.wustl.edu 37 11 77884746 77884746 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 77884746 77884746 C T SNP LOC100289388 ENST00000530261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-705O3.1 Clone_based_vega_gene ENSG00000246174 11 7 38.89 22 0 0.00 LOC100289580 100289580 genome.wustl.edu 37 16 88803470 88803470 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 88803470 88803470 C G SNP LOC100289580 ENST00000567968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene ENSG00000224888 9 9 50.00 9 0 0.00 LOC100289580 100289580 genome.wustl.edu 37 16 88804271 88804271 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 88804271 88804271 G A SNP LOC100289580 ENST00000440406 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene ENSG00000224888 31 15 31.91 20 0 0.00 LOC100499183 100499183 genome.wustl.edu 37 8 104258641 104258641 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 104258641 104258641 G A SNP LOC100499183 ENST00000499522 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-318M2.2 Clone_based_vega_gene ENSG00000247081 47 17 26.56 24 0 0.00 LOC100499227 100499227 genome.wustl.edu 37 11 119369518 119369518 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 119369518 119369518 G C SNP LOC100499227 ENST00000498979 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-305N23.1 Clone_based_vega_gene ENSG00000245248 17 3 15.00 29 0 0.00 LOC100505498 100505498 genome.wustl.edu 37 2 145832928 145832928 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 145832928 145832928 C T SNP LOC100505498 ENST00000445791 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074093.1 Clone_based_vega_gene ENSG00000226674 26 18 40.91 36 0 0.00 LOC100505501 100505501 genome.wustl.edu 37 8 60032383 60032384 + RNA INS - - C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 60032383 60032384 - C INS LOC100505501 ENST00000523683 human ensembl 70_37 +1 known rna NULL NULL 0.051:0.109 - - - no_errors RP11-25K19.1 Clone_based_vega_gene ENSG00000167912 7 2 22.22 11 0 0.00 LOC100505550 100505550 genome.wustl.edu 37 6 37513563 37513563 + RNA SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 37513563 37513563 C A SNP LOC100505550 ENST00000445172 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-153P14.3 Clone_based_vega_gene ENSG00000229559 56 8 12.50 31 0 0.00 LOC100505624 100505624 genome.wustl.edu 37 2 27560101 27560101 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27560101 27560101 C A SNP LOC100505624 ENST00000416453 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC109828.1 Clone_based_vega_gene ENSG00000234945 63 8 11.27 58 0 0.00 LOC100505761 100505761 genome.wustl.edu 37 10 104211229 104211229 + RNA SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 104211229 104211229 C A SNP LOC100505761 ENST00000492465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-18I14.10 Clone_based_vega_gene ENSG00000269609 30 14 31.82 30 0 0.00 LOC100505776 100505776 genome.wustl.edu 37 18 69195091 69195092 + RNA INS - - T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 69195091 69195092 - T INS LOC100505776 ENST00000568095 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors RP11-510D19.1 Clone_based_vega_gene ENSG00000260676 50 7 12.28 42 0 0.00 LOC100505782 100505782 genome.wustl.edu 37 17 39564775 39564775 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 39564775 39564775 C T SNP LOC100505782 ENST00000430006 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 16 7 30.43 28 0 0.00 LOC100505782 100505782 genome.wustl.edu 37 17 39565702 39565702 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 39565702 39565702 C T SNP LOC100505782 ENST00000430006 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 38 31 44.93 44 0 0.00 LOC100505875 100505875 genome.wustl.edu 37 4 80148524 80148524 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 80148524 80148524 C G SNP LOC100505875 ENST00000507761 human ensembl 70_37 +1 known rna NULL NULL 0.292 - - - no_errors RP11-438E5.1 Clone_based_vega_gene ENSG00000249307 46 6 11.54 42 0 0.00 LOC100505964 100505964 genome.wustl.edu 37 2 4021503 4021503 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 4021503 4021503 G A SNP LOC100505964 ENST00000425949 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC107070.1 Clone_based_vega_gene ENSG00000237401 36 15 29.41 28 0 0.00 LOC100505978 100505978 genome.wustl.edu 37 12 107074753 107074753 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 107074753 107074753 C T SNP LOC100505978 ENST00000547531 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-482D24.2 Clone_based_vega_gene ENSG00000257711 38 17 30.91 23 0 0.00 LOC100506060 100506060 genome.wustl.edu 37 16 70253659 70253659 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70253659 70253659 G T SNP LOC100506060 ENST00000573141 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 26 8 23.53 28 0 0.00 LOC100506060 100506060 genome.wustl.edu 37 16 70254724 70254724 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 70254724 70254724 G A SNP LOC100506060 ENST00000573141 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 106 20 15.87 171 0 0.00 LOC100506071 100506071 genome.wustl.edu 37 14 31353728 31353728 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 31353728 31353728 C A SNP LOC100506071 ENST00000555108 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-829H16.3 Clone_based_vega_gene ENSG00000258525 51 20 28.17 67 0 0.00 LOC100506098 100506098 genome.wustl.edu 37 7 20261234 20261235 + RNA INS - - C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 20261234 20261235 - C INS LOC100506098 ENST00000430859 human ensembl 70_37 +1 known rna NULL NULL 0.884:0.855 - - - no_errors AC005083.1 Clone_based_vega_gene ENSG00000233834 9 2 18.18 38 0 0.00 LOC100506102 100506102 genome.wustl.edu 37 5 132446890 132446890 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 132446890 132446890 G C SNP LOC100506102 ENST00000507389 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-485M7.3 Clone_based_vega_gene ENSG00000251616 2 5 71.43 19 0 0.00 LOC100506123 100506123 genome.wustl.edu 37 2 98088527 98088527 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 98088527 98088527 G C SNP LOC100506123 ENST00000431244 human ensembl 70_37 -1 known rna NULL NULL 0.142 - - - no_errors AC159540.1 Clone_based_vega_gene ENSG00000230606 28 23 45.10 17 0 0.00 LOC100506127 100506127 genome.wustl.edu 37 11 76093214 76093214 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76093214 76093214 G A SNP LOC100506127 ENST00000529331 human ensembl 70_37 +1 putative missense c.342 p.M114I 0.998 NULL superfamily_Homeodomain-like - no_errors RP11-111M22.2 Clone_based_vega_gene ENSG00000179240 16 9 36.00 16 0 0.00 LOC100506157 100506157 genome.wustl.edu 37 14 35390099 35390099 + RNA SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 35390099 35390099 C T SNP LOC100506157 ENST00000556355 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-85K15.2 Clone_based_vega_gene ENSG00000258704 28 8 22.22 39 0 0.00 LOC100506206 100506206 genome.wustl.edu 37 1 179699400 179699400 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 179699400 179699400 G C SNP LOC100506206 ENST00000423879 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-12M5.1 Clone_based_vega_gene ENSG00000243062 40 43 51.81 32 0 0.00 LOC100506216 100506216 genome.wustl.edu 37 2 6765210 6765210 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 6765210 6765210 C A SNP LOC100506216 ENST00000589150 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors AC097517.2 Clone_based_vega_gene ENSG00000236172 36 4 10.00 30 0 0.00 LOC100506272 100506272 genome.wustl.edu 37 4 188476232 188476232 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 188476232 188476232 C T SNP LOC100506272 ENST00000515660 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-565A3.2 Clone_based_vega_gene ENSG00000250590 30 23 42.59 34 0 0.00 LOC100506303 100506303 genome.wustl.edu 37 14 19656218 19656218 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 19656218 19656218 C T SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 9 7 43.75 11 0 0.00 LOC100506303 100506303 genome.wustl.edu 37 14 19685595 19685595 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 19685595 19685595 G A SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 8 5 38.46 10 0 0.00 LOC100506303 100506303 genome.wustl.edu 37 14 19686356 19686356 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 14 19686356 19686356 C T SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 4 12 75.00 16 0 0.00 LOC100506303 100506303 genome.wustl.edu 37 14 19686757 19686757 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 19686757 19686757 A G SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.130 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 17 7 29.17 23 0 0.00 LOC100506303 100506303 genome.wustl.edu 37 14 19692764 19692764 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 19692764 19692764 C T SNP LOC100506303 ENST00000431094 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 17 8 32.00 9 0 0.00 LOC100506453 100506453 genome.wustl.edu 37 X 3824128 3824128 + RNA SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 3824128 3824128 G C SNP LOC100506453 ENST00000381106 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-706O15.5 Clone_based_vega_gene ENSG00000205663 54 8 12.90 66 0 0.00 LOC100506469 100506469 genome.wustl.edu 37 19 36035943 36035943 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 36035943 36035943 G A SNP LOC100506469 ENST00000588286 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 22 14 38.89 39 0 0.00 LOC100506469 100506469 genome.wustl.edu 37 19 36035944 36035944 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 36035944 36035944 G A SNP LOC100506469 ENST00000588286 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 22 14 38.89 38 0 0.00 LOC100506544 100506544 genome.wustl.edu 37 22 41605531 41605531 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41605531 41605531 C T SNP LOC100506544 ENST00000441316 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-756G23.5 Clone_based_vega_gene ENSG00000235513 9 5 35.71 25 0 0.00 LOC100506874 100506874 genome.wustl.edu 37 15 85121556 85121557 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 85121556 85121557 - A INS LOC100506874 ENST00000557887 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.004 - - - no_errors RP11-182J1.9 Clone_based_vega_gene ENSG00000259728 67 11 14.10 42 0 0.00 LOC100506928 100506928 genome.wustl.edu 37 16 30510320 30510320 + RNA SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 16 30510320 30510320 G T SNP LOC100506928 ENST00000563751 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-297C4.1 Clone_based_vega_gene ENSG00000261332 33 4 10.81 56 0 0.00 LOC100506994 100506994 genome.wustl.edu 37 3 62262567 62262567 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 62262567 62262567 C G SNP LOC100506994 ENST00000466893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-204J18.3 Clone_based_vega_gene ENSG00000241472 65 72 52.55 124 0 0.00 LOC100507003 100507003 genome.wustl.edu 37 19 49929715 49929715 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 49929715 49929715 C G SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative missense c.28 p.L10V 0.945 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene ENSG00000261949 22 14 37.84 40 0 0.00 LOC100507003 100507003 genome.wustl.edu 37 19 49930563 49930563 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 49930563 49930563 C T SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative silent c.876 p.F292 0.171 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene ENSG00000261949 24 22 47.83 53 0 0.00 LOC100507003 100507003 genome.wustl.edu 37 19 49931279 49931279 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49931279 49931279 G C SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative silent c.1260 p.L420 0.891 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene ENSG00000261949 41 19 31.67 88 0 0.00 LOC100507033 100507033 genome.wustl.edu 37 3 194217567 194217567 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194217567 194217567 G C SNP LOC100507033 ENST00000455557 human ensembl 70_37 -1 putative rna NULL NULL 0.008 - - - no_errors AC108676.1 Clone_based_vega_gene ENSG00000244675 62 11 15.07 35 0 0.00 LOC100507034 100507034 genome.wustl.edu 37 10 3190278 3190278 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 3190278 3190278 G C SNP LOC100507034 ENST00000430356 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-298E9.3 Clone_based_vega_gene ENSG00000237399 49 8 14.04 50 0 0.00 LOC100507199 100507199 genome.wustl.edu 37 X 151073046 151073046 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 151073046 151073046 C G SNP LOC100507199 ENST00000411474 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-366F6.2 Clone_based_vega_gene ENSG00000229967 33 14 29.79 52 0 0.00 LOC100507199 100507199 genome.wustl.edu 37 X 151080888 151080888 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 151080888 151080888 G A SNP LOC100507199 ENST00000424126 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-366F6.2 Clone_based_vega_gene ENSG00000229967 51 20 28.17 49 0 0.00 LOC100507242 100507242 genome.wustl.edu 37 14 101426340 101426340 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 14 101426340 101426340 C T SNP LOC100507242 ENST00000443252 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors AL132709.5 Clone_based_vega_gene ENSG00000225746 30 23 43.40 25 0 0.00 LOC100507244 100507244 genome.wustl.edu 37 9 72785288 72785288 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 72785288 72785288 C T SNP LOC100507244 ENST00000448377 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-195E11.2 Clone_based_vega_gene ENSG00000204706 5 4 44.44 17 0 0.00 LOC100507244 100507244 genome.wustl.edu 37 9 72787575 72787575 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 72787575 72787575 C T SNP LOC100507244 ENST00000420573 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-195E11.2 Clone_based_vega_gene ENSG00000204706 20 18 47.37 39 0 0.00 LOC100507244 100507244 genome.wustl.edu 37 9 72787636 72787636 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 72787636 72787636 C T SNP LOC100507244 ENST00000420573 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-195E11.2 Clone_based_vega_gene ENSG00000204706 54 41 43.16 89 0 0.00 LOC100507250 100507250 genome.wustl.edu 37 12 69079501 69079501 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 69079501 69079501 G A SNP LOC100507250 ENST00000433116 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-637A17.2 Clone_based_vega_gene ENSG00000247363 46 22 32.35 39 0 0.00 LOC100507250 100507250 genome.wustl.edu 37 12 69080906 69080906 + RNA SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 69080906 69080906 G A SNP LOC100507250 ENST00000502102 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-637A17.2 Clone_based_vega_gene ENSG00000247363 36 21 36.84 65 0 0.00 LOC100507291 100507291 genome.wustl.edu 37 3 139302129 139302129 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 139302129 139302129 C G SNP LOC100507291 ENST00000515247 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-319G6.1 Clone_based_vega_gene ENSG00000248932 138 30 17.65 126 0 0.00 LOC100507331 100507331 genome.wustl.edu 37 10 75560286 75560286 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 75560286 75560286 G A SNP LOC100507331 ENST00000456638 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-574K11.16 Clone_based_vega_gene ENSG00000236370 30 10 25.00 30 0 0.00 LOC100507334 100507334 genome.wustl.edu 37 2 110742222 110742222 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 110742222 110742222 A G SNP LOC100507334 ENST00000454928 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC013271.3 Clone_based_vega_gene ENSG00000186148 23 15 39.47 8 0 0.00 LOC100507377 100507377 genome.wustl.edu 37 12 74544827 74544827 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 74544827 74544827 C G SNP LOC100507377 ENST00000549905 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 9 5 35.71 20 0 0.00 LOC100507377 100507377 genome.wustl.edu 37 12 74679618 74679618 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 74679618 74679618 G C SNP LOC100507377 ENST00000551210 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 19 15 44.12 51 0 0.00 LOC100507377 100507377 genome.wustl.edu 37 12 74686398 74686398 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 74686398 74686398 C A SNP LOC100507377 ENST00000515416 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 3 6 66.67 12 0 0.00 LOC100507419 100507419 genome.wustl.edu 37 16 3107516 3107516 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 3107516 3107516 C A SNP LOC100507419 ENST00000573953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-473M20.7 Clone_based_vega_gene ENSG00000261971 33 4 10.53 27 0 0.00 LOC100507419 100507419 genome.wustl.edu 37 16 3107626 3107626 + RNA SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 3107626 3107626 C G SNP LOC100507419 ENST00000573953 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.7 Clone_based_vega_gene ENSG00000261971 161 46 22.12 172 0 0.00 LOC100507431 100507431 genome.wustl.edu 37 11 130724712 130724712 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 130724712 130724712 C T SNP LOC100507431 ENST00000533812 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-890B15.2 Clone_based_vega_gene ENSG00000254842 8 53 86.89 84 0 0.00 LOC100507431 100507431 genome.wustl.edu 37 11 130732055 130732055 + RNA SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 130732055 130732055 T G SNP LOC100507431 ENST00000533812 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-890B15.2 Clone_based_vega_gene ENSG00000254842 12 4 25.00 22 0 0.00 LOC100507463 100507463 genome.wustl.edu 37 6 32811885 32811885 + RNA SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 32811885 32811885 G C SNP LOC100507463 ENST00000453426 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors XXbac-BPG246D15.8 Clone_based_vega_gene ENSG00000204261 27 18 40.00 31 0 0.00 LOC100507463 100507463 genome.wustl.edu 37 6 32813284 32813284 + RNA SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 32813284 32813284 C G SNP LOC100507463 ENST00000412095 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors XXbac-BPG246D15.8 Clone_based_vega_gene ENSG00000204261 31 13 29.55 40 0 0.00 LOC100507546 100507546 genome.wustl.edu 37 5 180625263 180625263 + RNA SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180625263 180625263 G C SNP LOC100507546 ENST00000502812 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CTC-338M12.6 Clone_based_vega_gene ENSG00000250900 6 4 40.00 20 0 0.00 LOC100507564 100507564 genome.wustl.edu 37 1 53708227 53708227 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 53708227 53708227 G C SNP LOC100507564 ENST00000458151 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors RP5-1024G6.5 Clone_based_vega_gene ENSG00000226754 23 15 39.47 50 0 0.00 LOC100507584 100507584 genome.wustl.edu 37 6 33858825 33858825 + RNA SNP C C A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 33858825 33858825 C A SNP LOC100507584 ENST00000506222 human ensembl 70_37 -1 known rna NULL NULL 0.209 - - - no_errors RP3-468B3.3 Clone_based_vega_gene ENSG00000249346 40 21 33.87 32 0 0.00 LOC100507646 100507646 genome.wustl.edu 37 19 40781050 40781050 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 40781050 40781050 C A SNP LOC100507646 ENST00000378432 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-425O23.2 Clone_based_vega_gene ENSG00000205041 49 11 18.33 50 0 0.00 LOC100508383 100508383 genome.wustl.edu 37 3 184144484 184144484 + Silent SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 184144484 184144484 T C SNP LOC100508383 ENST00000419960 human ensembl 70_37 +1 putative silent c.147 p.P49 0.000 NULL NULL - no_errors RP11-433C9.2 Clone_based_vega_gene ENSG00000224153 44 11 20.00 27 0 0.00 LOC100509445 100509445 genome.wustl.edu 37 12 31267342 31267342 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 31267342 31267342 G A SNP LOC100509445 ENST00000391394 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-551L14.1 Clone_based_vega_gene ENSG00000177359 209 40 16.06 244 0 0.00 LOC100509445 100509445 genome.wustl.edu 37 12 31267847 31267847 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 31267847 31267847 C T SNP LOC100509445 ENST00000391394 human ensembl 70_37 -1 known rna NULL NULL 0.831 - - - no_errors RP11-551L14.1 Clone_based_vega_gene ENSG00000177359 40 16 28.57 56 0 0.00 LOC100652824 100652824 genome.wustl.edu 37 2 202965171 202965171 + Missense_Mutation SNP A A T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 202965171 202965171 A T SNP LOC100652824 ENST00000541917 human ensembl 70_37 +1 known missense c.1154 p.K385M 1.000 NULL NULL - no_errors FLJ39061 Uniprot_genename ENSG00000182329 13 3 18.75 17 0 0.00 LOC100652824 100652824 genome.wustl.edu 37 2 202967705 202967705 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 202967705 202967705 G A SNP LOC100652824 ENST00000541917 human ensembl 70_37 +1 known missense c.1192 p.E398K 0.835 NULL NULL - no_errors FLJ39061 Uniprot_genename ENSG00000182329 28 4 12.50 62 0 0.00 LOC100653005 100653005 genome.wustl.edu 37 6 33884079 33884079 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 33884079 33884079 C T SNP LOC100653005 ENST00000530000 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors RP3-468B3.2 Clone_based_vega_gene ENSG00000233183 17 35 67.31 32 0 0.00 LOC100653515 100653515 genome.wustl.edu 37 17 76886990 76886990 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76886990 76886990 G T SNP LOC100653515 ENST00000322630 human ensembl 70_37 -1 putative silent c.1596 p.I532 0.000 NULL NULL - no_errors CTD-2373H9.6 Clone_based_vega_gene ENSG00000178404 23 12 34.29 39 0 0.00 LOC100653515 100653515 genome.wustl.edu 37 17 76887930 76887930 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76887930 76887930 G A SNP LOC100653515 ENST00000322630 human ensembl 70_37 -1 putative missense c.656 p.P219L 0.000 NULL NULL - no_errors CTD-2373H9.6 Clone_based_vega_gene ENSG00000178404 34 26 43.33 59 0 0.00 LOC100996269 100996269 genome.wustl.edu 37 7 1499645 1499645 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 1499645 1499645 G A SNP LOC100996269 ENST00000445345 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors AC102953.4 Clone_based_vega_gene ENSG00000225981 24 14 36.84 25 0 0.00 LOC100996300 100996300 genome.wustl.edu 37 6 17882266 17882266 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 17882266 17882266 G A SNP LOC100996300 ENST00000398387 human ensembl 70_37 -1 known missense c.113 p.A38V 0.050 NULL NULL - no_errors AL023807.2 Clone_based_ensembl_gene ENSG00000217340 22 56 71.79 93 0 0.00 LOC100996307 100996307 genome.wustl.edu 37 19 42989362 42989362 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 42989362 42989362 C T SNP LOC100996307 ENST00000457234 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-50E14.6 Clone_based_vega_gene ENSG00000213904 38 22 36.67 36 0 0.00 LOC100996331 100996331 genome.wustl.edu 37 15 21071460 21071460 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 21071460 21071460 C T SNP LOC100996331 ENST00000454856 human ensembl 70_37 -1 known missense c.151 p.D51N 0.034 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB Uniprot_genename ENSG00000230031 2 3 60.00 8 0 0.00 LOC100996348 100996348 genome.wustl.edu 37 8 86354196 86354196 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 86354196 86354196 G A SNP LOC100996348 ENST00000517697 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-317J10.2 Clone_based_vega_gene ENSG00000253549 29 10 25.64 41 0 0.00 LOC100996378 100996378 genome.wustl.edu 37 12 2964607 2964607 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 2964607 2964607 G C SNP LOC100996378 ENST00000382678 human ensembl 70_37 -1 known silent c.99 p.V33 0.034 NULL NULL - no_errors AC005841.1 Clone_based_ensembl_gene ENSG00000206044 73 19 20.65 62 0 0.00 LOC100996381 100996381 genome.wustl.edu 37 19 24246697 24246697 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 24246697 24246697 G A SNP LOC100996381 ENST00000597683 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors CTD-2017D11.1 Clone_based_vega_gene ENSG00000268362 41 15 26.79 30 0 0.00 LOC100996381 100996381 genome.wustl.edu 37 19 24248750 24248750 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 24248750 24248750 C T SNP LOC100996381 ENST00000594934 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors CTD-2017D11.1 Clone_based_vega_gene ENSG00000268362 21 17 43.59 41 0 0.00 LOC100996516 100996516 genome.wustl.edu 37 1 150523265 150523265 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 150523265 150523265 G A SNP LOC100996516 ENST00000538795 human ensembl 70_37 +1 known missense c.194 p.R65H 0.009 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene ENSG00000225996 38 21 35.00 56 0 0.00 LOC100996516 100996516 genome.wustl.edu 37 1 150523407 150523407 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150523407 150523407 C T SNP LOC100996516 ENST00000538795 human ensembl 70_37 +1 known silent c.336 p.L112 0.291 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene ENSG00000225996 9 5 35.71 11 0 0.00 LOC100996524 100996524 genome.wustl.edu 37 22 50117569 50117570 + RNA INS - - TATA TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 22 50117569 50117570 - TATA INS LOC100996524 ENST00000447372 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP5-983L19.2 Clone_based_vega_gene ENSG00000226954 29 28 49.12 26 0 0.00 LOC100996554 100996554 genome.wustl.edu 37 1 243219215 243219215 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 243219215 243219215 G A SNP LOC100996554 ENST00000418377 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 16 8 33.33 13 0 0.00 LOC100996554 100996554 genome.wustl.edu 37 1 243219565 243219565 + RNA SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 243219565 243219565 T C SNP LOC100996554 ENST00000418377 human ensembl 70_37 -1 known rna NULL NULL 0.726 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 32 33 50.00 54 0 0.00 LOC100996554 100996554 genome.wustl.edu 37 1 243251118 243251118 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 243251118 243251118 G T SNP LOC100996554 ENST00000435840 human ensembl 70_37 -1 known rna NULL NULL 0.344 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 52 15 22.39 43 0 0.00 LOC100996554 100996554 genome.wustl.edu 37 1 243260602 243260602 + Splice_Site SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 243260602 243260602 C G SNP LOC100996554 ENST00000417964 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.188 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 135 18 11.76 36 0 0.00 LOC100996554 100996554 genome.wustl.edu 37 1 243260889 243260889 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 243260889 243260889 C G SNP LOC100996554 ENST00000411733 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 26 17 39.53 27 0 0.00 LOC100996629 100996629 genome.wustl.edu 37 10 70239894 70239894 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 70239894 70239894 G A SNP LOC100996629 ENST00000439904 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-9E13.2 Clone_based_vega_gene ENSG00000234635 33 43 55.84 30 0 0.00 LOC100996779 100996779 genome.wustl.edu 37 GL000219.1 79989 79989 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea GL000219.1 79989 79989 C G SNP LOC100996779 ENST00000418749 human ensembl 70_37 -1 known missense c.211 p.D71H NULL pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors AL592183.1 Clone_based_ensembl_gene ENSG00000220023 62 7 10.14 118 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466172 66466172 + RNA SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 66466172 66466172 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 8 2 20.00 20 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466172 66466172 + RNA SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 66466172 66466172 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 19 3 13.64 17 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466210 66466210 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 66466210 66466210 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.122 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 11 4 26.67 17 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466242 66466242 + RNA SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 9 66466242 66466242 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 7 5 41.67 12 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466327 66466327 + RNA DEL G G - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 66466327 66466327 G - DEL LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.090 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 7 4 36.36 8 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466414 66466414 + RNA SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 66466414 66466414 A G SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 5 4 44.44 8 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466538 66466538 + RNA SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 66466538 66466538 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 6 7 50.00 10 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466586 66466586 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 66466586 66466586 G A SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 8 4 33.33 14 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466586 66466586 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 66466586 66466586 G A SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 11 4 26.67 15 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466602 66466602 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 66466602 66466602 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 13 5 26.32 15 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 8 4 30.77 12 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 1 4 80.00 10 0 0.00 LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 9 4 30.77 16 0 0.00 LOC100996920 100996920 genome.wustl.edu 37 1 142803370 142803370 + RNA SNP T T G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 142803370 142803370 T G SNP LOC100996920 ENST00000423385 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 4 4 50.00 11 0 0.00 LOC101060037 101060037 genome.wustl.edu 37 21 47612703 47612703 + Missense_Mutation SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 21 47612703 47612703 T C SNP LOC101060037 ENST00000424538 human ensembl 70_37 -1 known missense c.610 p.T204A 0.067 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors AP001468.1 Clone_based_ensembl_gene ENSG00000235878 22 4 15.38 28 0 0.00 LOC101060092 101060092 genome.wustl.edu 37 10 17927340 17927340 + Silent SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 17927340 17927340 C G SNP LOC101060092 ENST00000331429 human ensembl 70_37 +1 novel silent c.3042 p.V1014 0.974 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 8 6 42.86 13 0 0.00 LOC101060092 101060092 genome.wustl.edu 37 10 17949643 17949643 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 17949643 17949643 A T SNP LOC101060092 ENST00000331429 human ensembl 70_37 +1 novel missense c.4007 p.H1336L 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 59 22 27.16 114 0 0.00 LOC101060179 101060179 genome.wustl.edu 37 11 45234992 45234992 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 45234992 45234992 G T SNP LOC101060179 ENST00000399269 human ensembl 70_37 +1 known missense c.357 p.M119I 0.075 NULL NULL - no_errors AC103681.1 Clone_based_ensembl_gene ENSG00000214934 20 3 13.04 38 0 0.00 LOC101060360 101060360 genome.wustl.edu 37 16 11542909 11542909 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 11542909 11542909 C G SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.1087 p.E363Q 0.050 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 28 8 22.22 52 0 0.00 LOC101060360 101060360 genome.wustl.edu 37 16 11554965 11554965 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11554965 11554965 C G SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.201 p.E67D 0.998 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 74 27 26.73 68 0 0.00 LOC101060360 101060360 genome.wustl.edu 37 16 11556106 11556106 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 11556106 11556106 C T SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known silent c.57 p.A19 0.909 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 30 15 33.33 48 0 0.00 LOC101060360 101060360 genome.wustl.edu 37 16 11556126 11556126 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 11556126 11556126 C T SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.37 p.E13K 0.001 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 29 5 14.71 30 0 0.00 LOC101060424 101060424 genome.wustl.edu 37 16 22558146 22558146 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 22558146 22558146 C T SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 32 8 20.00 36 0 0.00 LOC101060424 101060424 genome.wustl.edu 37 16 22558204 22558204 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22558204 22558204 G C SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 66 14 17.50 57 0 0.00 LOC101060424 101060424 genome.wustl.edu 37 16 22558354 22558354 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22558354 22558354 G C SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 97 23 19.01 127 0 0.00 LOC101060424 101060424 genome.wustl.edu 37 16 22563720 22563720 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 22563720 22563720 C G SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 106 22 17.19 101 0 0.00 LOC101060424 101060424 genome.wustl.edu 37 16 22588020 22588020 + RNA SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 22588020 22588020 G T SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 123 40 24.54 86 0 0.00 LOC101060455 101060455 genome.wustl.edu 37 16 30309792 30309792 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 30309792 30309792 G A SNP LOC101060455 ENST00000411546 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-347C12.2 Clone_based_vega_gene ENSG00000183604 235 27 10.27 278 0 0.00 LOC101060455 101060455 genome.wustl.edu 37 16 30346634 30346634 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30346634 30346634 G A SNP LOC101060455 ENST00000411546 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors RP11-347C12.2 Clone_based_vega_gene ENSG00000183604 10 9 47.37 12 0 0.00 LOC101060462 101060462 genome.wustl.edu 37 10 47151670 47151670 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 47151670 47151670 C T SNP LOC101060462 ENST00000319426 human ensembl 70_37 -1 known missense c.179 p.G60D 0.001 NULL NULL - no_errors AL391137.1 Clone_based_ensembl_gene ENSG00000179251 8 8 50.00 10 0 0.00 LOC101060462 101060462 genome.wustl.edu 37 10 47769385 47769385 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 47769385 47769385 C A SNP LOC101060462 ENST00000335083 human ensembl 70_37 +1 known nonsense c.206 p.S69* 0.000 NULL NULL - no_errors AL603965.1 Clone_based_ensembl_gene ENSG00000215033 17 4 19.05 24 0 0.00 LOC101060483 101060483 genome.wustl.edu 37 14 19855145 19855145 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 19855145 19855145 C T SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 23 7 23.33 29 0 0.00 LOC101060483 101060483 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 19856372 19856372 A G SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 9 3 23.08 9 0 0.00 LOC101060483 101060483 genome.wustl.edu 37 14 19856617 19856617 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 19856617 19856617 A G SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 5 2 28.57 11 0 0.00 LOC101060483 101060483 genome.wustl.edu 37 14 19856846 19856846 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 19856846 19856846 C T SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 40 7 14.89 54 0 0.00 LOC101060495 101060495 genome.wustl.edu 37 11 134670 134670 + RNA SNP C C G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 134670 134670 C G SNP LOC101060495 ENST00000527683 human ensembl 70_37 -1 known rna NULL NULL 0.786 - - - no_errors RP11-304M2.2 Clone_based_vega_gene ENSG00000230724 46 16 25.81 17 0 0.00 LOC101060495 101060495 genome.wustl.edu 37 11 134695 134695 + RNA SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 134695 134695 G T SNP LOC101060495 ENST00000527683 human ensembl 70_37 -1 known rna NULL NULL 0.083 - - - no_errors RP11-304M2.2 Clone_based_vega_gene ENSG00000230724 21 4 16.00 26 0 0.00 LOC101060495 101060495 genome.wustl.edu 37 11 134704 134704 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 134704 134704 G A SNP LOC101060495 ENST00000527683 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors RP11-304M2.2 Clone_based_vega_gene ENSG00000230724 4 4 50.00 28 0 0.00 LOC101060590 101060590 genome.wustl.edu 37 1 148951275 148951275 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 148951275 148951275 G A SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 164 27 14.14 158 0 0.00 LOC101060590 101060590 genome.wustl.edu 37 1 148951425 148951425 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 148951425 148951425 G A SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.851 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 82 13 13.54 107 1 0.93 LOC101060590 101060590 genome.wustl.edu 37 1 148951539 148951539 + RNA SNP A A G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 148951539 148951539 A G SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.160 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 8 3 27.27 10 0 0.00 LOC101060596 101060596 genome.wustl.edu 37 16 21475009 21475009 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 21475009 21475009 C T SNP LOC101060596 ENST00000522841 human ensembl 70_37 -1 known rna NULL NULL 0.087 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene ENSG00000180747 130 21 13.91 134 0 0.00 LOC101060596 101060596 genome.wustl.edu 37 16 21531445 21531445 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 21531445 21531445 G A SNP LOC101060596 ENST00000437413 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene ENSG00000180747 159 18 10.17 225 0 0.00 LOC101060596 101060596 genome.wustl.edu 37 16 21531526 21531526 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 21531526 21531526 T C SNP LOC101060596 ENST00000522841 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene ENSG00000180747 76 10 11.63 107 0 0.00 LOC101060615 101060615 genome.wustl.edu 37 22 16157762 16157762 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 16157762 16157762 C T SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known silent c.177 p.P59 0.154 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene ENSG00000206252 27 6 18.18 20 0 0.00 LOC101060615 101060615 genome.wustl.edu 37 22 16157762 16157762 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 22 16157762 16157762 C T SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known silent c.177 p.P59 0.154 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene ENSG00000206252 55 11 16.42 41 0 0.00 LOC101060615 101060615 genome.wustl.edu 37 22 16157791 16157791 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 22 16157791 16157791 G A SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known missense c.148 p.R50W 0.254 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene ENSG00000206252 24 11 31.43 15 0 0.00 LOC101060626 101060626 genome.wustl.edu 37 8 142257 142257 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 142257 142257 G T SNP LOC101060626 ENST00000523795 human ensembl 70_37 -1 known missense c.184 p.P62T 0.046 NULL NULL - no_errors RP11-585F1.10 Clone_based_vega_gene ENSG00000250210 72 29 28.71 78 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20708820 20708820 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 22 20708820 20708820 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative silent c.552 p.I184 0.023 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 53 40 43.01 160 1 0.62 LOC101060787 101060787 genome.wustl.edu 37 22 20708827 20708827 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 20708827 20708827 G A SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.559 p.E187K 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 101 63 38.41 104 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20709953 20709953 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 20709953 20709953 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1685 p.P562L 0.998 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 46 11 19.30 51 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20709962 20709962 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 20709962 20709962 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1694 p.S565L 0.609 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 52 12 18.75 62 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20710188 20710188 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20710188 20710188 G T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative silent c.1920 p.S640 0.003 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 80 36 30.77 84 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20710253 20710253 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 22 20710253 20710253 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1985 p.A662V 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 196 29 12.72 258 0 0.00 LOC101060787 101060787 genome.wustl.edu 37 22 20710592 20710592 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 20710592 20710592 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.2324 p.T775M 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene ENSG00000188280 158 43 21.39 133 0 0.00 LOC146880 146880 genome.wustl.edu 37 17 62745955 62745955 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 62745955 62745955 G C SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 0.929 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 40 10 20.00 64 0 0.00 LOC146880 146880 genome.wustl.edu 37 17 62746746 62746746 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 62746746 62746746 C G SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 44 35 44.30 65 0 0.00 LOC146880 146880 genome.wustl.edu 37 17 62758538 62758538 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 62758538 62758538 C A SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 36 14 28.00 47 0 0.00 LOC147670 147670 genome.wustl.edu 37 19 57166487 57166487 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 57166487 57166487 C T SNP LOC147670 ENST00000598409 human ensembl 70_37 +1 known missense c.263 p.S88L 0.921 NULL NULL - no_errors AC007228.1 Clone_based_vega_gene ENSG00000268182 26 22 45.83 53 0 0.00 LOC148709 148709 genome.wustl.edu 37 1 202843160 202843160 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 202843160 202843160 C G SNP LOC148709 ENST00000456105 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 20 7 25.93 40 0 0.00 LOC149134 149134 genome.wustl.edu 37 1 246954062 246954062 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 246954062 246954062 C T SNP LOC149134 ENST00000419361 human ensembl 70_37 +1 known rna NULL NULL 0.929 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 74 12 13.95 60 0 0.00 LOC150051 150051 genome.wustl.edu 37 21 32931906 32931906 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 32931906 32931906 G A SNP LOC150051 ENST00000433071 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors AP000251.2 Clone_based_vega_gene ENSG00000237594 10 4 28.57 15 0 0.00 LOC150577 150577 genome.wustl.edu 37 2 100863599 100863599 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 100863599 100863599 G A SNP LOC150577 ENST00000441036 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC104782.3 Clone_based_vega_gene ENSG00000232084 36 4 10.00 26 0 0.00 LOC150776 150776 genome.wustl.edu 37 2 132266119 132266119 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 132266119 132266119 G A SNP LOC150776 ENST00000438378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 14 9 39.13 28 0 0.00 LOC150776 150776 genome.wustl.edu 37 2 132266119 132266119 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 132266119 132266119 G A SNP LOC150776 ENST00000438378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 36 23 38.98 31 0 0.00 LOC151174 151174 genome.wustl.edu 37 2 239133938 239133938 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 239133938 239133938 G A SNP LOC151174 ENST00000334973 human ensembl 70_37 -1 known missense c.268 p.P90S 0.000 NULL NULL - no_errors AC016757.3 Clone_based_vega_gene ENSG00000186235 26 7 21.21 48 0 0.00 LOC151174 151174 genome.wustl.edu 37 2 239133938 239133938 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 239133938 239133938 G A SNP LOC151174 ENST00000334973 human ensembl 70_37 -1 known missense c.268 p.P90S 0.000 NULL NULL - no_errors AC016757.3 Clone_based_vega_gene ENSG00000186235 37 5 11.90 42 0 0.00 LOC152586 152586 genome.wustl.edu 37 4 141383121 141383121 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 141383121 141383121 A T SNP LOC152586 ENST00000511113 human ensembl 70_37 -1 putative missense c.724 p.L242M 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene ENSG00000205301 46 8 14.55 59 0 0.00 LOC152586 152586 genome.wustl.edu 37 4 141403529 141403529 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 141403529 141403529 G A SNP LOC152586 ENST00000511113 human ensembl 70_37 -1 putative nonsense c.205 p.R69* 0.000 NULL pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene ENSG00000205301 74 15 16.85 115 0 0.00 LOC154092 154092 genome.wustl.edu 37 6 134824015 134824015 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 134824015 134824015 C T SNP LOC154092 ENST00000431422 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-557H15.2 Clone_based_vega_gene ENSG00000236700 2 19 90.48 33 0 0.00 LOC154761 154761 genome.wustl.edu 37 7 143510107 143510107 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 143510107 143510107 T G SNP LOC154761 ENST00000481651 human ensembl 70_37 -1 putative rna NULL NULL 0.333 - - - no_errors RP11-61L23.2 Clone_based_vega_gene ENSG00000253882 96 11 10.28 149 0 0.00 LOC158376 158376 genome.wustl.edu 37 9 35910639 35910639 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 35910639 35910639 G A SNP LOC158376 ENST00000443779 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-327L3.1 Clone_based_vega_gene ENSG00000235387 43 27 38.57 65 0 0.00 LOC158572 158572 genome.wustl.edu 37 X 49642957 49642957 + RNA DEL T T - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 49642957 49642957 T - DEL LOC158572 ENST00000437322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF238380.5 Clone_based_vega_gene ENSG00000234390 50 9 15.25 72 0 0.00 LOC201651 201651 genome.wustl.edu 37 3 151491248 151491248 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151491248 151491248 C A SNP LOC201651 ENST00000471766 human ensembl 70_37 +1 known rna NULL NULL 0.113 - - - no_errors RP11-64D22.2 Clone_based_vega_gene ENSG00000240602 19 20 51.28 70 0 0.00 LOC201651 201651 genome.wustl.edu 37 3 151501814 151501814 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151501814 151501814 C T SNP LOC201651 ENST00000463420 human ensembl 70_37 +1 known rna NULL NULL 0.291 - - - no_errors RP11-64D22.2 Clone_based_vega_gene ENSG00000240602 35 19 35.19 54 0 0.00 LOC219731 219731 genome.wustl.edu 37 10 11911485 11911485 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 11911485 11911485 C A SNP LOC219731 ENST00000445498 human ensembl 70_37 -1 known rna NULL NULL 0.053 - - - no_errors RP11-401F24.4 Clone_based_vega_gene ENSG00000225778 62 21 25.00 82 0 0.00 LOC220729 220729 genome.wustl.edu 37 3 197349125 197349125 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197349125 197349125 G A SNP LOC220729 ENST00000414207 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 65 13 16.67 77 0 0.00 LOC220729 220729 genome.wustl.edu 37 3 197350172 197350172 + RNA SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 197350172 197350172 T C SNP LOC220729 ENST00000414207 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 1 2 66.67 8 0 0.00 LOC253039 253039 genome.wustl.edu 37 9 123605287 123605287 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 123605287 123605287 C T SNP LOC253039 ENST00000586907 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-27I1.2 Clone_based_vega_gene ENSG00000226752 55 47 45.63 94 0 0.00 LOC253044 253044 genome.wustl.edu 37 15 77934197 77934197 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77934197 77934197 G T SNP LOC253044 ENST00000558691 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-307C19.3 Clone_based_vega_gene ENSG00000259666 25 12 32.43 45 0 0.00 LOC254099 254099 genome.wustl.edu 37 1 1078148 1078148 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1078148 1078148 G A SNP LOC254099 ENST00000416774 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-465B22.5 Clone_based_vega_gene ENSG00000223823 32 39 54.93 44 0 0.00 LOC255167 255167 genome.wustl.edu 37 5 6587641 6587641 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 6587641 6587641 G A SNP LOC255167 ENST00000505626 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2195M18.1 Clone_based_vega_gene ENSG00000250056 61 8 11.59 34 0 0.00 LOC257396 257396 genome.wustl.edu 37 5 52405689 52405689 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 52405689 52405689 C T SNP LOC257396 ENST00000502171 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors CTD-2366F13.1 Clone_based_vega_gene ENSG00000247796 6 4 40.00 10 0 0.00 LOC283194 283194 genome.wustl.edu 37 11 58746612 58746612 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 58746612 58746612 G T SNP LOC283194 ENST00000533954 human ensembl 70_37 -1 known rna NULL NULL 0.101 - - - no_errors RP11-142C4.6 Clone_based_vega_gene ENSG00000255240 22 4 15.38 21 0 0.00 LOC283335 283335 genome.wustl.edu 37 12 53438312 53438312 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 53438312 53438312 C T SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-983P16.4 Clone_based_vega_gene ENSG00000257337 8 5 38.46 10 0 0.00 LOC283335 283335 genome.wustl.edu 37 12 53439202 53439202 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53439202 53439202 C T SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-983P16.4 Clone_based_vega_gene ENSG00000257337 29 24 45.28 32 0 0.00 LOC283335 283335 genome.wustl.edu 37 12 53439347 53439347 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53439347 53439347 A G SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-983P16.4 Clone_based_vega_gene ENSG00000257337 36 5 12.20 34 0 0.00 LOC283867 283867 genome.wustl.edu 37 16 65409133 65409133 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 65409133 65409133 G A SNP LOC283867 ENST00000564041 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RP11-256I9.1 Clone_based_vega_gene ENSG00000261742 33 11 25.00 40 0 0.00 LOC283914 283914 genome.wustl.edu 37 16 34616850 34616850 + RNA SNP G G T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 34616850 34616850 G T SNP LOC283914 ENST00000569242 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-488I20.3 Clone_based_vega_gene ENSG00000259841 39 17 29.82 51 0 0.00 LOC284009 284009 genome.wustl.edu 37 17 2310167 2310167 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2310167 2310167 G C SNP LOC284009 ENST00000571332 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP1-59D14.3 Clone_based_vega_gene ENSG00000205821 11 6 35.29 18 0 0.00 LOC284009 284009 genome.wustl.edu 37 17 2310431 2310431 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 2310431 2310431 G A SNP LOC284009 ENST00000381977 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-59D14.3 Clone_based_vega_gene ENSG00000205821 31 22 41.51 50 0 0.00 LOC284023 284023 genome.wustl.edu 37 17 7819061 7819061 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 7819061 7819061 G A SNP LOC284023 ENST00000324348 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC025335.1 Clone_based_vega_gene ENSG00000179859 26 23 46.94 39 0 0.00 LOC284100 284100 genome.wustl.edu 37 17 36214063 36214063 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36214063 36214063 C T SNP LOC284100 ENST00000586509 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-115K3.2 Clone_based_vega_gene ENSG00000267671 12 13 52.00 35 0 0.00 LOC284100 284100 genome.wustl.edu 37 17 36233893 36233893 + RNA SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 36233893 36233893 C A SNP LOC284100 ENST00000590732 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-115K3.2 Clone_based_vega_gene ENSG00000267671 30 4 11.76 32 0 0.00 LOC284751 284751 genome.wustl.edu 37 20 48909282 48909282 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 20 48909282 48909282 G A SNP LOC284751 ENST00000371639 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-290F20.1 Clone_based_vega_gene ENSG00000203999 41 16 28.07 52 0 0.00 LOC284788 284788 genome.wustl.edu 37 20 22381260 22381260 + RNA SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 20 22381260 22381260 C A SNP LOC284788 ENST00000377121 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1004I9.1 Clone_based_vega_gene ENSG00000204684 36 4 10.00 51 0 0.00 LOC284788 284788 genome.wustl.edu 37 20 22381413 22381413 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 22381413 22381413 G T SNP LOC284788 ENST00000377121 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1004I9.1 Clone_based_vega_gene ENSG00000204684 17 4 19.05 18 0 0.00 LOC285441 285441 genome.wustl.edu 37 4 187209599 187209599 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 187209599 187209599 C G SNP LOC285441 ENST00000505103 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-215A19.1 Clone_based_vega_gene ENSG00000251165 55 42 43.30 79 0 0.00 LOC285556 285556 genome.wustl.edu 37 4 100573320 100573320 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 100573320 100573320 A G SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.2486 p.M829T 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 73 18 19.78 84 0 0.00 LOC285556 285556 genome.wustl.edu 37 4 100573672 100573672 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 100573672 100573672 A G SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.2134 p.S712P 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 74 10 11.90 63 0 0.00 LOC285556 285556 genome.wustl.edu 37 4 100573715 100573715 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 100573715 100573715 C T SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative silent c.2091 p.G697 0.432 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 31 21 40.38 54 0 0.00 LOC285556 285556 genome.wustl.edu 37 4 100574216 100574216 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 100574216 100574216 T C SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.1590 p.I530M 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 54 17 23.94 66 0 0.00 LOC285696 285696 genome.wustl.edu 37 5 17217129 17217129 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 17217129 17217129 A G SNP LOC285696 ENST00000399760 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC091878.1 Clone_based_vega_gene ENSG00000215196 4 2 28.57 9 0 0.00 LOC286083 286083 genome.wustl.edu 37 8 1250741 1250741 + RNA SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 1250741 1250741 T C SNP LOC286083 ENST00000521186 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2281E23.1 Clone_based_vega_gene ENSG00000253640 57 10 14.93 35 0 0.00 LOC338651 338651 genome.wustl.edu 37 11 1619714 1619714 + RNA SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 11 1619714 1619714 C G SNP LOC338651 ENST00000424148 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP13-25N22.1 Clone_based_vega_gene ENSG00000233930 52 7 11.86 72 0 0.00 LOC338651 338651 genome.wustl.edu 37 11 1619857 1619857 + RNA SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 11 1619857 1619857 C G SNP LOC338651 ENST00000424148 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP13-25N22.1 Clone_based_vega_gene ENSG00000233930 14 5 26.32 20 0 0.00 LOC339192 339192 genome.wustl.edu 37 17 43295625 43295625 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 43295625 43295625 C T SNP LOC339192 ENST00000585471 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-2020K17.1 Clone_based_vega_gene ENSG00000267121 36 15 29.41 22 0 0.00 LOC339524 339524 genome.wustl.edu 37 1 87597801 87597801 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 87597801 87597801 A G SNP LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene ENSG00000267272 70 13 15.66 72 0 0.00 LOC339524 339524 genome.wustl.edu 37 1 87598075 87598075 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 87598075 87598075 C T SNP LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene ENSG00000267272 14 9 39.13 11 0 0.00 LOC339524 339524 genome.wustl.edu 37 1 87598335 87598336 + RNA INS - - C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 87598335 87598336 - C INS LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene ENSG00000267272 18 9 33.33 30 0 0.00 LOC339529 339529 genome.wustl.edu 37 1 244210228 244210228 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 244210228 244210228 G A SNP LOC339529 ENST00000440494 human ensembl 70_37 +1 known rna NULL NULL 0.864 - - - no_errors RP11-278H7.1 Clone_based_vega_gene ENSG00000226828 51 19 27.14 35 0 0.00 LOC339788 339788 genome.wustl.edu 37 2 8064132 8064132 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 8064132 8064132 C T SNP LOC339788 ENST00000426969 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007464.1 Clone_based_vega_gene ENSG00000235665 35 12 25.53 39 0 0.00 LOC339803 339803 genome.wustl.edu 37 2 61369385 61369385 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61369385 61369385 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors AC016747.3 Clone_based_vega_gene ENSG00000212978 49 28 36.36 21 0 0.00 LOC339803 339803 genome.wustl.edu 37 2 61370117 61370117 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61370117 61370117 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.659 - - - no_errors AC016747.3 Clone_based_vega_gene ENSG00000212978 50 39 43.82 22 0 0.00 LOC339803 339803 genome.wustl.edu 37 2 61370430 61370430 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61370430 61370430 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.075 - - - no_errors AC016747.3 Clone_based_vega_gene ENSG00000212978 48 35 42.17 32 0 0.00 LOC344967 344967 genome.wustl.edu 37 4 40045080 40045080 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 40045080 40045080 G A SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 47 21 30.88 35 0 0.00 LOC344967 344967 genome.wustl.edu 37 4 40045242 40045242 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 40045242 40045242 G C SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.232 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 100 46 31.51 94 0 0.00 LOC344967 344967 genome.wustl.edu 37 4 40045257 40045257 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 40045257 40045257 G A SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 65 61 48.03 91 0 0.00 LOC344967 344967 genome.wustl.edu 37 4 40045490 40045490 + RNA SNP G G C TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 4 40045490 40045490 G C SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 31 28 47.46 59 0 0.00 LOC344967 344967 genome.wustl.edu 37 4 40045511 40045511 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 40045511 40045511 C G SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 58 28 32.56 65 0 0.00 LOC349160 349160 genome.wustl.edu 37 7 136849075 136849075 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 136849075 136849075 G C SNP LOC349160 ENST00000425981 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC009264.1 Clone_based_vega_gene ENSG00000234352 41 5 10.64 33 0 0.00 LOC387647 387647 genome.wustl.edu 37 10 29698432 29698432 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 29698432 29698432 G T SNP LOC387647 ENST00000430295 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-534G20.3 Clone_based_vega_gene ENSG00000224597 23 10 30.30 30 0 0.00 LOC387647 387647 genome.wustl.edu 37 10 29704295 29704295 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 29704295 29704295 G C SNP LOC387647 ENST00000413405 human ensembl 70_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-534G20.3 Clone_based_vega_gene ENSG00000224597 26 13 33.33 48 0 0.00 LOC389033 389033 genome.wustl.edu 37 2 130680519 130680519 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 130680519 130680519 G A SNP LOC389033 ENST00000433290 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC079776.2 Clone_based_vega_gene ENSG00000214100 38 20 34.48 43 0 0.00 LOC389634 389634 genome.wustl.edu 37 12 8539755 8539756 + RNA INS - - TGG TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 8539755 8539756 - TGG INS LOC389634 ENST00000538304 human ensembl 70_37 -1 known rna NULL NULL 0.141:0.141 - - - no_errors RP11-90D4.2 Clone_based_vega_gene ENSG00000226091 24 3 11.11 36 0 0.00 LOC389634 389634 genome.wustl.edu 37 12 8542870 8542870 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 8542870 8542870 C T SNP LOC389634 ENST00000420040 human ensembl 70_37 -1 known rna NULL NULL 0.743 - - - no_errors RP11-90D4.2 Clone_based_vega_gene ENSG00000226091 15 9 37.50 17 0 0.00 LOC389634 389634 genome.wustl.edu 37 12 8543454 8543454 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 8543454 8543454 G A SNP LOC389634 ENST00000536864 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-90D4.2 Clone_based_vega_gene ENSG00000226091 6 8 57.14 11 0 0.00 LOC399829 399829 genome.wustl.edu 37 10 134788188 134788188 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 134788188 134788188 G A SNP LOC399829 ENST00000461291 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP13-137A17.6 Clone_based_vega_gene ENSG00000240707 112 57 33.73 130 0 0.00 LOC400553 400553 genome.wustl.edu 37 16 88124572 88124572 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 88124572 88124572 C T SNP LOC400553 ENST00000378417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-863P13.4 Clone_based_vega_gene ENSG00000205037 52 35 38.89 64 0 0.00 LOC400553 400553 genome.wustl.edu 37 16 88124822 88124822 + RNA SNP A A T TCGA-DG-A2KJ-01A-11D-A18J-09 TCGA-DG-A2KJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8be2b0f5-7bad-4720-b13c-e95b32bdb933 8741af22-0355-4085-9c09-abee617690d0 16 88124822 88124822 A T SNP LOC400553 ENST00000378417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-863P13.4 Clone_based_vega_gene ENSG00000205037 38 5 11.63 39 0 0.00 LOC400743 400743 genome.wustl.edu 37 1 17521085 17521085 + RNA SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 17521085 17521085 G T SNP LOC400743 ENST00000412427 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-380J14.1 Clone_based_vega_gene ENSG00000204362 32 7 17.95 21 0 0.00 LOC400756 400756 genome.wustl.edu 37 1 63175371 63175371 + RNA SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 63175371 63175371 A C SNP LOC400756 ENST00000453229 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-230B22.1 Clone_based_vega_gene ENSG00000235545 36 6 14.29 24 0 0.00 LOC400794 400794 genome.wustl.edu 37 1 165551154 165551154 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 165551154 165551154 G C SNP LOC400794 ENST00000416424 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-280O1.2 Clone_based_vega_gene ENSG00000237463 34 10 22.73 44 0 0.00 LOC400891 400891 genome.wustl.edu 37 22 21403289 21403289 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 21403289 21403289 C T SNP LOC400891 ENST00000342608 human ensembl 70_37 +1 known silent c.465 p.L155 0.506 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 20 17 45.95 37 0 0.00 LOC400891 400891 genome.wustl.edu 37 22 21406603 21406603 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21406603 21406603 C T SNP LOC400891 ENST00000342608 human ensembl 70_37 +1 known missense c.688 p.H230Y 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 46 18 28.12 48 0 0.00 LOC400891 400891 genome.wustl.edu 37 22 21416350 21416350 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 21416350 21416350 C T SNP LOC400891 ENST00000473769 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 37 33 47.14 30 0 0.00 LOC400940 400940 genome.wustl.edu 37 2 6112096 6112096 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 6112096 6112096 C G SNP LOC400940 ENST00000391666 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC073479.1 Clone_based_vega_gene ENSG00000232044 31 13 29.55 57 0 0.00 LOC401127 401127 genome.wustl.edu 37 4 39482011 39482011 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 39482011 39482011 G A SNP LOC401127 ENST00000506076 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 11 5 31.25 27 0 0.00 LOC401177 401177 genome.wustl.edu 37 5 17380184 17380184 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 17380184 17380184 G T SNP LOC401177 ENST00000505158 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2139B15.4 Clone_based_vega_gene ENSG00000250822 52 8 13.33 27 0 0.00 LOC401242 401242 genome.wustl.edu 37 6 28829679 28829679 + RNA SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 28829679 28829679 C A SNP LOC401242 ENST00000440244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene ENSG00000225595 29 22 43.14 46 0 0.00 LOC401242 401242 genome.wustl.edu 37 6 28829695 28829695 + RNA SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 28829695 28829695 A G SNP LOC401242 ENST00000440244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene ENSG00000225595 47 19 28.79 56 0 0.00 LOC401463 401463 genome.wustl.edu 37 8 65488963 65488963 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 65488963 65488963 C T SNP LOC401463 ENST00000517909 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-21C4.1 Clone_based_vega_gene ENSG00000254102 23 11 30.56 28 0 0.00 LOC407835 407835 genome.wustl.edu 37 7 128767621 128767621 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 128767621 128767621 C G SNP LOC407835 ENST00000471777 human ensembl 70_37 +1 known rna NULL NULL 0.863 - - - no_errors RP11-286H14.4 Clone_based_vega_gene ENSG00000230626 72 14 16.28 104 0 0.00 LOC407835 407835 genome.wustl.edu 37 7 128767638 128767638 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 128767638 128767638 G A SNP LOC407835 ENST00000471777 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-286H14.4 Clone_based_vega_gene ENSG00000230626 38 19 33.33 63 0 0.00 LOC440233 440233 genome.wustl.edu 37 15 23406517 23406517 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 23406517 23406517 C G SNP LOC440233 ENST00000558241 human ensembl 70_37 -1 novel missense c.2319 p.K773N 0.029 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 263 46 14.89 256 0 0.00 LOC440233 440233 genome.wustl.edu 37 15 23406997 23406997 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 23406997 23406997 C A SNP LOC440233 ENST00000558241 human ensembl 70_37 -1 novel missense c.1839 p.K613N 0.040 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 157 31 16.49 357 0 0.00 LOC440288 440288 genome.wustl.edu 37 15 74753949 74753949 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 74753949 74753949 C G SNP LOC440288 ENST00000499217 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10O17.2 Clone_based_vega_gene ENSG00000247240 34 8 19.05 22 0 0.00 LOC440288 440288 genome.wustl.edu 37 15 74758431 74758431 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 74758431 74758431 C T SNP LOC440288 ENST00000499217 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors RP11-10O17.2 Clone_based_vega_gene ENSG00000247240 38 8 17.39 39 0 0.00 LOC440356 440356 genome.wustl.edu 37 16 29875656 29875656 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 29875656 29875656 G A SNP LOC440356 ENST00000398859 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors CTD-2574D22.5 Clone_based_vega_gene ENSG00000214725 30 9 23.08 25 0 0.00 LOC440356 440356 genome.wustl.edu 37 16 29875700 29875700 + RNA SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 29875700 29875700 G C SNP LOC440356 ENST00000398859 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CTD-2574D22.5 Clone_based_vega_gene ENSG00000214725 30 8 21.05 20 0 0.00 LOC440518 440518 genome.wustl.edu 37 19 22782543 22782543 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22782543 22782543 G C SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 46 14 23.33 37 0 0.00 LOC440518 440518 genome.wustl.edu 37 19 22785250 22785250 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 22785250 22785250 G A SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 67 29 30.21 114 0 0.00 LOC440518 440518 genome.wustl.edu 37 19 22785608 22785608 + RNA SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 22785608 22785608 C A SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 4 4 50.00 32 0 0.00 LOC440518 440518 genome.wustl.edu 37 19 22786023 22786023 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 22786023 22786023 C G SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 85 32 27.35 76 0 0.00 LOC440570 440570 genome.wustl.edu 37 1 17198146 17198147 + RNA DEL AC AC - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 17198146 17198147 AC - DEL LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.006:0.006 - - - no_errors RP11-108M9.3 Clone_based_vega_gene ENSG00000228549 13 11 45.83 10 0 0.00 LOC440570 440570 genome.wustl.edu 37 1 17198686 17198686 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17198686 17198686 C A SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-108M9.3 Clone_based_vega_gene ENSG00000228549 45 12 21.05 54 0 0.00 LOC440570 440570 genome.wustl.edu 37 1 17198851 17198851 + RNA SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17198851 17198851 G C SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-108M9.3 Clone_based_vega_gene ENSG00000228549 17 6 26.09 8 0 0.00 LOC440570 440570 genome.wustl.edu 37 1 17198882 17198882 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17198882 17198882 C T SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-108M9.3 Clone_based_vega_gene ENSG00000228549 12 5 29.41 10 0 0.00 LOC440910 440910 genome.wustl.edu 37 2 132054516 132054516 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 132054516 132054516 G A SNP LOC440910 ENST00000560285 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC131180.4 Clone_based_vega_gene ENSG00000231431 40 23 35.94 19 0 0.00 LOC440910 440910 genome.wustl.edu 37 2 132055839 132055839 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 132055839 132055839 C T SNP LOC440910 ENST00000560285 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC131180.4 Clone_based_vega_gene ENSG00000231431 30 15 33.33 13 0 0.00 LOC440981 440981 genome.wustl.edu 37 3 146113577 146113577 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 146113577 146113577 T - DEL LOC440981 ENST00000490344 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-758I14.3 Clone_based_vega_gene ENSG00000241358 67 12 15.19 63 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195393212 195393212 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 195393212 195393212 C T SNP LOC440993 ENST00000457233 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 34 5 12.82 30 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195393269 195393269 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 195393269 195393269 C T SNP LOC440993 ENST00000457233 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 14 5 25.00 14 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195395487 195395487 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 195395487 195395487 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 97 27 21.77 114 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195398061 195398061 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195398061 195398061 C T SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 224 29 11.46 150 1 0.66 LOC440993 440993 genome.wustl.edu 37 3 195400814 195400815 + Splice_Site INS - - TT TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 3 195400814 195400815 - TT INS LOC440993 ENST00000414625 human ensembl 70_37 +1 known splice_site_ins c.NULL NULL 0.999:1.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 140 17 10.83 56 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195400814 195400815 + Splice_Site INS - - TT TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 195400814 195400815 - TT INS LOC440993 ENST00000414625 human ensembl 70_37 +1 known splice_site_ins c.NULL NULL 0.999:1.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 31 9 22.50 36 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195400839 195400839 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195400839 195400839 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 21 13 38.24 29 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195404651 195404651 + RNA SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 195404651 195404651 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 81 22 21.36 17 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195412436 195412440 + RNA DEL AAAGC AAAGC - TCGA-C5-A2LV-01A-11D-A18J-09 TCGA-C5-A2LV-10A-01D-A18J-09 AAAGC AAAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3269608c-5dd7-452a-976a-31ac971aac2f 28fa35ae-f144-4ef0-918e-fe72471c8101 3 195412436 195412440 AAAGC - DEL LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.078:0.080:0.076:0.061:0.049 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 8 4 33.33 10 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195412514 195412515 + RNA INS - - C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 195412514 195412515 - C INS LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 54 7 11.48 19 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195412596 195412596 + RNA SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 195412596 195412596 A G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 17 4 19.05 20 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195412928 195412928 + RNA SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 195412928 195412928 G A SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 16 9 36.00 10 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195415427 195415427 + RNA SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 195415427 195415427 C A SNP LOC440993 ENST00000420851 human ensembl 70_37 +1 known rna NULL NULL 0.063 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 40 18 31.03 39 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195415466 195415466 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 195415466 195415466 C T SNP LOC440993 ENST00000420851 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 127 50 28.25 136 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195435129 195435129 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 195435129 195435129 C G SNP LOC440993 ENST00000417704 human ensembl 70_37 +1 known rna NULL NULL 0.245 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 203 24 10.57 129 0 0.00 LOC440993 440993 genome.wustl.edu 37 3 195435185 195435185 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 195435185 195435185 C T SNP LOC440993 ENST00000417704 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069513.3 Clone_based_vega_gene ENSG00000242086 123 40 24.54 117 0 0.00 LOC441167 441167 genome.wustl.edu 37 6 114320894 114320894 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 114320894 114320894 G T SNP LOC441167 ENST00000421891 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP3-399L15.3 Clone_based_vega_gene ENSG00000228624 64 15 18.99 35 0 0.00 LOC442028 442028 genome.wustl.edu 37 2 95552784 95552784 + RNA SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 95552784 95552784 G T SNP LOC442028 ENST00000582835 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 17 19 52.78 35 0 0.00 LOC550112 550112 genome.wustl.edu 37 4 68928799 68928799 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 68928799 68928799 G C SNP LOC550112 ENST00000499180 human ensembl 70_37 +1 known rna NULL NULL 0.370 - - - no_errors RP11-453E17.1 Clone_based_vega_gene ENSG00000248049 49 25 33.78 49 0 0.00 LOC574538 574538 genome.wustl.edu 37 12 251277 251277 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 251277 251277 C T SNP LOC574538 ENST00000505893 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-598F7.4 Clone_based_vega_gene ENSG00000249695 23 8 25.81 43 0 0.00 LOC619207 619207 genome.wustl.edu 37 10 135271991 135271991 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 135271991 135271991 G C SNP LOC619207 ENST00000333815 human ensembl 70_37 +1 putative missense c.810 p.Q270H 0.337 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors RP11-108K14.4 Clone_based_vega_gene ENSG00000214279 14 4 22.22 16 0 0.00 LOC619207 619207 genome.wustl.edu 37 10 135272652 135272652 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 135272652 135272652 C G SNP LOC619207 ENST00000333815 human ensembl 70_37 +1 putative silent c.1107 p.L369 0.865 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors RP11-108K14.4 Clone_based_vega_gene ENSG00000214279 32 16 33.33 53 0 0.00 LOC641367 641367 genome.wustl.edu 37 19 21934344 21934344 + RNA SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 21934344 21934344 G T SNP LOC641367 ENST00000596710 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 34 9 20.93 69 0 0.00 LOC641367 641367 genome.wustl.edu 37 19 21934426 21934426 + RNA SNP C C G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 21934426 21934426 C G SNP LOC641367 ENST00000596710 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 18 3 14.29 67 0 0.00 LOC642423 642423 genome.wustl.edu 37 15 84868725 84868726 + RNA DEL GG GG - TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 84868725 84868726 GG - DEL LOC642423 ENST00000316967 human ensembl 70_37 -1 known rna NULL NULL 0.187:0.139 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 44 7 13.73 27 0 0.00 LOC642423 642423 genome.wustl.edu 37 15 84873308 84873308 + RNA SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 84873308 84873308 T C SNP LOC642423 ENST00000561015 human ensembl 70_37 -1 known rna NULL NULL 0.120 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 2 3 60.00 10 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21535771 21535771 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 21535771 21535771 C T SNP LOC642633 ENST00000424410 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 19 4 17.39 21 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538079 21538079 + RNA SNP A A G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 21538079 21538079 A G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 119 28 19.05 16 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538436 21538436 + RNA SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 22 21538436 21538436 A G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 28 15 34.88 28 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538465 21538465 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 21538465 21538465 G T SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 22 10 31.25 27 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538466 21538466 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 21538466 21538466 C G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.035 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 48 15 23.81 9 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538476 21538476 + RNA SNP A A C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 21538476 21538476 A C SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 20 6 23.08 11 0 0.00 LOC642633 642633 genome.wustl.edu 37 22 21538766 21538766 + RNA SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 21538766 21538766 C T SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.178 - - - no_errors KB-1183D5.11 Clone_based_vega_gene ENSG00000215498 13 4 23.53 24 0 0.00 LOC642778 642778 genome.wustl.edu 37 16 14819756 14819756 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 14819756 14819756 C T SNP LOC642778 ENST00000531598 human ensembl 70_37 +1 novel missense c.716 p.A239V 0.000 pfam_NPIP pfam_NPIP - no_errors RP11-719K4.1 Clone_based_vega_gene ENSG00000224712 8 3 27.27 12 0 0.00 LOC642799 642799 genome.wustl.edu 37 16 14859185 14859185 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 14859185 14859185 C T SNP LOC642799 ENST00000529166 human ensembl 70_37 +1 novel missense c.1025 p.S342L 0.080 pfam_NPIP pfam_NPIP - no_errors RP11-719K4.2 Clone_based_vega_gene ENSG00000254852 24 13 35.14 26 0 0.00 LOC642929 642929 genome.wustl.edu 37 9 43140695 43140695 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 43140695 43140695 C T SNP LOC642929 ENST00000453939 human ensembl 70_37 -1 known rna NULL NULL 0.106 - - - no_errors RP11-327I22.6 Clone_based_vega_gene ENSG00000233074 50 8 13.79 28 0 0.00 LOC643406 643406 genome.wustl.edu 37 20 5454497 5454497 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 5454497 5454497 C T SNP LOC643406 ENST00000430097 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-828H9.1 Clone_based_vega_gene ENSG00000230563 46 17 26.98 66 0 0.00 LOC643714 643714 genome.wustl.edu 37 16 52640667 52640668 + RNA INS - - AA TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 52640667 52640668 - AA INS LOC643714 ENST00000510238 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-297L17.1 Clone_based_vega_gene ENSG00000249231 45 6 11.76 39 0 0.00 LOC643837 643837 genome.wustl.edu 37 1 789144 789144 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 789144 789144 G C SNP LOC643837 ENST00000445118 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-206L10.11 Clone_based_vega_gene ENSG00000228794 32 16 33.33 27 0 0.00 LOC643837 643837 genome.wustl.edu 37 1 792871 792871 + RNA SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 792871 792871 A T SNP LOC643837 ENST00000445118 human ensembl 70_37 +1 known rna NULL NULL 0.336 - - - no_errors RP11-206L10.11 Clone_based_vega_gene ENSG00000228794 7 3 30.00 14 0 0.00 LOC644090 644090 genome.wustl.edu 37 7 151507895 151507895 + RNA SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 151507895 151507895 A G SNP LOC644090 ENST00000462083 human ensembl 70_37 +1 known rna NULL NULL 0.465 - - - no_errors RP13-452N2.1 Clone_based_vega_gene ENSG00000242048 38 6 13.64 36 0 0.00 LOC644145 644145 genome.wustl.edu 37 4 56686283 56686283 + RNA SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 56686283 56686283 G A SNP LOC644145 ENST00000504250 human ensembl 70_37 +1 known rna NULL NULL 0.706 - - - no_errors RP11-345F18.1 Clone_based_vega_gene ENSG00000250821 72 23 24.21 76 0 0.00 LOC644554 644554 genome.wustl.edu 37 19 38314525 38314525 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 38314525 38314525 G C SNP LOC644554 ENST00000587248 human ensembl 70_37 +1 known rna NULL NULL 0.053 - - - no_errors CTD-2554C21.2 Clone_based_vega_gene ENSG00000267640 18 6 25.00 16 0 0.00 LOC644669 644669 genome.wustl.edu 37 18 15325556 15325556 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 15325556 15325556 C G SNP LOC644669 ENST00000455308 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 97 30 23.44 124 0 0.00 LOC644669 644669 genome.wustl.edu 37 18 15325663 15325663 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 15325663 15325663 C G SNP LOC644669 ENST00000455308 human ensembl 70_37 -1 known rna NULL NULL 0.914 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 149 39 20.74 151 0 0.00 LOC645513 645513 genome.wustl.edu 37 4 120382926 120382926 + RNA SNP A A C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 120382926 120382926 A C SNP LOC645513 ENST00000508519 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-33B1.1 Clone_based_vega_gene ENSG00000245958 125 59 32.07 122 0 0.00 LOC645513 645513 genome.wustl.edu 37 4 120384132 120384132 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 120384132 120384132 G C SNP LOC645513 ENST00000508519 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors RP11-33B1.1 Clone_based_vega_gene ENSG00000245958 48 16 25.00 88 0 0.00 LOC645513 645513 genome.wustl.edu 37 4 120415655 120415655 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 120415655 120415655 C G SNP LOC645513 ENST00000498873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-33B1.1 Clone_based_vega_gene ENSG00000245958 11 8 42.11 13 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78207622 78207622 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 78207622 78207622 C T SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 0.399 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 130 35 21.08 125 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78207869 78207869 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 15 78207869 78207869 G A SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 173 20 10.36 54 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78208211 78208211 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 78208211 78208211 C T SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 138 60 30.30 149 1 0.67 LOC645752 645752 genome.wustl.edu 37 15 78208261 78208261 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 78208261 78208261 G A SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 46 8 14.55 32 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78213762 78213762 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 78213762 78213762 G A SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 139 61 30.50 155 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78213884 78213884 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78213884 78213884 C T SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 111 47 29.75 242 0 0.00 LOC645752 645752 genome.wustl.edu 37 15 78213936 78213936 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78213936 78213936 C A SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 115 48 29.45 226 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29034950 29034950 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 29034950 29034950 C T SNP LOC646278 ENST00000565892 human ensembl 70_37 +1 putative rna NULL NULL 0.053 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 28 16 36.36 34 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29035045 29035045 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 29035045 29035045 G A SNP LOC646278 ENST00000562423 human ensembl 70_37 +1 putative rna NULL NULL 0.857 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 8 3 27.27 43 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29061903 29061903 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 29061903 29061903 C G SNP LOC646278 ENST00000563202 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 36 15 29.41 71 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29064065 29064065 + RNA SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 29064065 29064065 A G SNP LOC646278 ENST00000563202 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 23 10 30.30 43 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29078470 29078470 + RNA SNP G G C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 29078470 29078470 G C SNP LOC646278 ENST00000563144 human ensembl 70_37 +1 putative rna NULL NULL 0.917 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 103 26 20.16 165 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29078494 29078494 + RNA SNP T T C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 29078494 29078494 T C SNP LOC646278 ENST00000563144 human ensembl 70_37 +1 putative rna NULL NULL 0.897 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 101 19 15.83 173 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29078498 29078498 + RNA SNP A A T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 29078498 29078498 A T SNP LOC646278 ENST00000563144 human ensembl 70_37 +1 putative rna NULL NULL 0.899 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 96 20 17.09 170 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29078501 29078501 + RNA SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 29078501 29078501 G A SNP LOC646278 ENST00000563144 human ensembl 70_37 +1 putative rna NULL NULL 0.939 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 101 19 15.83 169 0 0.00 LOC646278 646278 genome.wustl.edu 37 15 29083972 29083973 + RNA INS - - TCT TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 15 29083972 29083973 - TCT INS LOC646278 ENST00000563144 human ensembl 70_37 +1 putative rna NULL NULL 0.953:0.939 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 13 3 18.75 11 0 0.00 LOC646543 646543 genome.wustl.edu 37 11 133779077 133779077 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 133779077 133779077 G T SNP LOC646543 ENST00000564347 human ensembl 70_37 -1 putative missense c.247 p.P83T 0.976 NULL NULL - no_errors RP11-259P6.1 Clone_based_vega_gene ENSG00000254918 74 27 26.73 117 0 0.00 LOC646543 646543 genome.wustl.edu 37 11 133781791 133781791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 133781791 133781791 C A SNP LOC646543 ENST00000564347 human ensembl 70_37 -1 putative missense c.141 p.K47N 1.000 NULL NULL - no_errors RP11-259P6.1 Clone_based_vega_gene ENSG00000254918 17 5 22.73 28 0 0.00 LOC652276 652276 genome.wustl.edu 37 16 2653460 2653460 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 16 2653460 2653460 G A SNP LOC652276 ENST00000399702 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC141586.5 Clone_based_vega_gene ENSG00000215154 93 26 21.85 95 0 0.00 LOC653160 653160 genome.wustl.edu 37 1 35442283 35442283 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 35442283 35442283 C T SNP LOC653160 ENST00000311990 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-244H3.1 Clone_based_vega_gene ENSG00000241014 6 4 40.00 28 0 0.00 LOC653160 653160 genome.wustl.edu 37 1 35442664 35442664 + RNA SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 35442664 35442664 G A SNP LOC653160 ENST00000311990 human ensembl 70_37 -1 known rna NULL NULL 0.653 - - - no_errors RP11-244H3.1 Clone_based_vega_gene ENSG00000241014 17 4 19.05 12 0 0.00 LOC653712 653712 genome.wustl.edu 37 3 128580474 128580474 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 128580474 128580474 C G SNP LOC653712 ENST00000480931 human ensembl 70_37 -1 known rna NULL NULL 0.847 - - - no_errors RP11-723O4.2 Clone_based_vega_gene ENSG00000231305 34 5 12.82 23 0 0.00 LOC654433 654433 genome.wustl.edu 37 2 113993935 113993935 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 113993935 113993935 G A SNP LOC654433 ENST00000436293 human ensembl 70_37 +1 known rna NULL NULL 0.274 - - - no_errors AC016683.6 Clone_based_vega_gene ENSG00000189223 25 10 28.57 25 0 0.00 LOC727982 727982 genome.wustl.edu 37 2 4676488 4676488 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 4676488 4676488 C T SNP LOC727982 ENST00000412134 human ensembl 70_37 -1 known rna NULL NULL 0.170 - - - no_errors AC022311.1 Clone_based_vega_gene ENSG00000231532 44 9 16.98 29 0 0.00 LOC728175 728175 genome.wustl.edu 37 4 185263061 185263061 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 185263061 185263061 C T SNP LOC728175 ENST00000317596 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-290F5.2 Clone_based_vega_gene ENSG00000180712 48 28 36.84 97 0 0.00 LOC728208 728208 genome.wustl.edu 37 2 241922262 241922262 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 241922262 241922262 G A SNP LOC728208 ENST00000425110 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC104809.2 Clone_based_vega_gene ENSG00000223991 11 13 54.17 39 0 0.00 LOC728208 728208 genome.wustl.edu 37 2 241925417 241925417 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 241925417 241925417 C G SNP LOC728208 ENST00000425110 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC104809.2 Clone_based_vega_gene ENSG00000223991 12 36 75.00 82 0 0.00 LOC728537 728537 genome.wustl.edu 37 2 98317652 98317652 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 98317652 98317652 C T SNP LOC728537 ENST00000451384 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors AC017099.3 Clone_based_vega_gene ENSG00000228486 24 17 41.46 46 0 0.00 LOC728558 728558 genome.wustl.edu 37 10 97514014 97514014 + RNA SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 97514014 97514014 G A SNP LOC728558 ENST00000416301 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-429G19.2 Clone_based_vega_gene ENSG00000226688 11 30 73.17 20 0 0.00 LOC728558 728558 genome.wustl.edu 37 10 97515949 97515949 + RNA DEL G G - TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 97515949 97515949 G - DEL LOC728558 ENST00000416301 human ensembl 70_37 -1 known rna NULL NULL 0.906 - - - no_errors RP11-429G19.2 Clone_based_vega_gene ENSG00000226688 8 2 20.00 11 0 0.00 LOC728558 728558 genome.wustl.edu 37 10 97607200 97607200 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 97607200 97607200 C T SNP LOC728558 ENST00000416301 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-429G19.2 Clone_based_vega_gene ENSG00000226688 127 24 15.89 150 0 0.00 LOC728643 728643 genome.wustl.edu 37 16 51679714 51679714 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 51679714 51679714 C T SNP LOC728643 ENST00000562726 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2119F7.2 Clone_based_vega_gene ENSG00000224578 20 16 44.44 60 0 0.00 LOC728643 728643 genome.wustl.edu 37 16 51680381 51680381 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 51680381 51680381 G A SNP LOC728643 ENST00000562726 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors CTD-2119F7.2 Clone_based_vega_gene ENSG00000224578 11 6 33.33 30 0 0.00 LOC728741 728741 genome.wustl.edu 37 16 28354389 28354389 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 28354389 28354389 A G SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.817 p.S273P 0.033 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename ENSG00000198156 54 9 14.29 82 0 0.00 LOC728741 728741 genome.wustl.edu 37 16 28354457 28354457 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 28354457 28354457 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.749 p.P250L 0.047 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename ENSG00000198156 19 5 20.00 35 0 0.00 LOC728741 728741 genome.wustl.edu 37 16 28354457 28354457 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 28354457 28354457 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.749 p.P250L 0.047 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename ENSG00000198156 39 7 15.22 46 0 0.00 LOC728741 728741 genome.wustl.edu 37 16 28354507 28354507 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 28354507 28354507 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel silent c.699 p.V233 0.003 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename ENSG00000198156 21 3 12.50 30 0 0.00 LOC728888 728888 genome.wustl.edu 37 16 21854826 21854826 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 21854826 21854826 G A SNP LOC728888 ENST00000415645 human ensembl 70_37 -1 known silent c.426 p.V142 0.000 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000185864 331 104 23.91 523 0 0.00 LOC728888 728888 genome.wustl.edu 37 16 21854826 21854826 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 16 21854826 21854826 G A SNP LOC728888 ENST00000415645 human ensembl 70_37 -1 known silent c.426 p.V142 0.000 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000185864 62 17 20.99 46 0 0.00 LOC728888 728888 genome.wustl.edu 37 16 21858734 21858734 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 21858734 21858734 C A SNP LOC728888 ENST00000415645 human ensembl 70_37 -1 known missense c.249 p.W83C 0.018 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000185864 9 40 81.63 92 0 0.00 LOC728888 728888 genome.wustl.edu 37 16 29393632 29393632 + Nonsense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 29393632 29393632 G C SNP LOC728888 ENST00000524087 human ensembl 70_37 -1 putative nonsense c.2621 p.S874* 0.000 NULL pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000254206 12 10 45.45 31 0 0.00 LOC728888 728888 genome.wustl.edu 37 16 29395073 29395073 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 29395073 29395073 C G SNP LOC728888 ENST00000524087 human ensembl 70_37 -1 putative missense c.1180 p.E394Q 0.002 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000254206 18 14 43.75 25 0 0.00 LOC729218 729218 genome.wustl.edu 37 4 119551832 119551832 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 119551832 119551832 G A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.172 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 59 9 13.04 64 0 0.00 LOC729218 729218 genome.wustl.edu 37 4 119554526 119554526 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 119554526 119554526 G A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.956 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 5 11 68.75 29 0 0.00 LOC729218 729218 genome.wustl.edu 37 4 119554774 119554774 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 119554774 119554774 C A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.371 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 27 4 12.90 50 0 0.00 LOC729218 729218 genome.wustl.edu 37 4 119554781 119554781 + RNA SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 119554781 119554781 C T SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.588 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 42 7 14.29 35 0 0.00 LOC729218 729218 genome.wustl.edu 37 4 119554790 119554790 + RNA SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 119554790 119554790 T C SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.759 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 36 4 10.00 40 0 0.00 LOC729224 729224 genome.wustl.edu 37 2 202979179 202979179 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202979179 202979179 G A SNP LOC729224 ENST00000409819 human ensembl 70_37 -1 known rna NULL NULL 0.294 - - - no_errors AC079354.3 Clone_based_vega_gene ENSG00000222035 39 20 33.90 47 0 0.00 LOC729305 729305 genome.wustl.edu 37 11 134605647 134605647 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 134605647 134605647 A G SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.010 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 115 37 24.34 157 1 0.63 LOC729305 729305 genome.wustl.edu 37 11 134605754 134605754 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 134605754 134605754 C T SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.567 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 113 16 12.40 133 0 0.00 LOC729305 729305 genome.wustl.edu 37 11 134605754 134605754 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 134605754 134605754 C T SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.567 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 125 47 27.17 178 1 0.56 LOC729444 729444 genome.wustl.edu 37 22 20342086 20342086 + RNA SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 20342086 20342086 G A SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 37 6 13.95 53 0 0.00 LOC729444 729444 genome.wustl.edu 37 22 20342166 20342166 + RNA SNP T T C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 20342166 20342166 T C SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 74 11 12.94 54 0 0.00 LOC729444 729444 genome.wustl.edu 37 22 20343203 20343203 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 20343203 20343203 C T SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.410 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 87 14 13.86 95 0 0.00 LOC729461 729461 genome.wustl.edu 37 22 20640381 20640381 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 20640381 20640381 G A SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.808 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 148 52 26.00 235 1 0.42 LOC729461 729461 genome.wustl.edu 37 22 20640559 20640559 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 20640559 20640559 A G SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 163 23 12.30 206 0 0.00 LOC729461 729461 genome.wustl.edu 37 22 20640623 20640623 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 20640623 20640623 C T SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 13 42 75.00 102 0 0.00 LOC729461 729461 genome.wustl.edu 37 22 20640653 20640653 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 20640653 20640653 C T SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.959 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 44 30 40.54 118 0 0.00 LOC729461 729461 genome.wustl.edu 37 22 20640910 20640910 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 20640910 20640910 C T SNP LOC729461 ENST00000428139 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 94 14 12.96 81 0 0.00 LOC729603 729603 genome.wustl.edu 37 6 160515007 160515007 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 160515007 160515007 G C SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-288H12.3 Clone_based_vega_gene ENSG00000213073 37 17 31.48 59 0 0.00 LOC729603 729603 genome.wustl.edu 37 6 160516880 160516880 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 160516880 160516880 G A SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-288H12.3 Clone_based_vega_gene ENSG00000213073 43 32 42.67 39 0 0.00 LOC729603 729603 genome.wustl.edu 37 6 160516957 160516957 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 160516957 160516957 G C SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-288H12.3 Clone_based_vega_gene ENSG00000213073 53 45 45.92 38 0 0.00 LOC729974 729974 genome.wustl.edu 37 19 56283234 56283234 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 56283234 56283234 G A SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.64 p.V22M 0.000 pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene ENSG00000229292 50 17 25.37 44 0 0.00 LOC729974 729974 genome.wustl.edu 37 19 56284507 56284507 + Missense_Mutation SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284507 56284507 T G SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.826 p.S276A 0.000 pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene ENSG00000229292 55 15 21.43 39 0 0.00 LOC729974 729974 genome.wustl.edu 37 19 56284529 56284529 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284529 56284529 C A SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.848 p.S283Y 0.000 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene ENSG00000229292 43 11 20.37 32 0 0.00 LOC729974 729974 genome.wustl.edu 37 19 56284535 56284535 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284535 56284535 A G SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.854 p.E285G 0.000 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene ENSG00000229292 41 10 19.61 30 0 0.00 LOC730441 730441 genome.wustl.edu 37 7 141969373 141969373 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 141969373 141969373 G A SNP LOC730441 ENST00000334288 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors U66059.29 Clone_based_vega_gene ENSG00000186163 3 5 62.50 20 0 0.00 LOC730811 730811 genome.wustl.edu 37 2 2328466 2328466 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 2328466 2328466 G A SNP LOC730811 ENST00000422175 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009232.2 Clone_based_vega_gene ENSG00000225619 30 20 40.00 44 0 0.00 LOC732275 732275 genome.wustl.edu 37 16 86366189 86366189 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 86366189 86366189 A T SNP LOC732275 ENST00000594203 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors RP11-158I3.2 Clone_based_vega_gene ENSG00000168367 25 10 28.57 29 0 0.00 LOC732275 732275 genome.wustl.edu 37 16 86369441 86369441 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 86369441 86369441 C T SNP LOC732275 ENST00000304488 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors RP11-158I3.2 Clone_based_vega_gene ENSG00000168367 19 11 36.67 34 0 0.00 LOC81691 81691 genome.wustl.edu 37 16 20818300 20818300 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 20818300 20818300 G C SNP LOC81691 ENST00000261377 human ensembl 70_37 +1 known missense c.25 p.E9Q 0.004 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 14 13 48.15 48 0 0.00 LOC81691 81691 genome.wustl.edu 37 16 20838394 20838394 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 20838394 20838394 C T SNP LOC81691 ENST00000261377 human ensembl 70_37 +1 known missense c.836 p.T279M 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 39 6 13.33 41 0 0.00 LOC81691 81691 genome.wustl.edu 37 16 20857632 20857632 + Silent SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 20857632 20857632 C G SNP LOC81691 ENST00000261377 human ensembl 70_37 +1 known silent c.2214 p.L738 0.997 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 101 37 26.81 164 0 0.00 LOC84856 84856 genome.wustl.edu 37 10 42971067 42971067 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 42971067 42971067 C T SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-178A10.1 Clone_based_vega_gene ENSG00000185904 39 10 20.41 38 0 0.00 LOC84856 84856 genome.wustl.edu 37 10 42971108 42971108 + RNA SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 42971108 42971108 T C SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-178A10.1 Clone_based_vega_gene ENSG00000185904 27 15 35.71 80 0 0.00 LOC84856 84856 genome.wustl.edu 37 10 42971127 42971127 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 42971127 42971127 G C SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.158 - - - no_errors RP11-178A10.1 Clone_based_vega_gene ENSG00000185904 60 30 33.33 98 0 0.00 LOC84856 84856 genome.wustl.edu 37 10 42972815 42972815 + RNA SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 10 42972815 42972815 C T SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-178A10.1 Clone_based_vega_gene ENSG00000185904 34 20 37.04 50 0 0.00 LOC84856 84856 genome.wustl.edu 37 10 42989654 42989654 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 42989654 42989654 C A SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-178A10.1 Clone_based_vega_gene ENSG00000185904 36 5 12.20 29 0 0.00 LOC93622 93622 genome.wustl.edu 37 4 6676121 6676121 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 6676121 6676121 G T SNP LOC93622 ENST00000307533 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC093323.3 Clone_based_vega_gene ENSG00000170846 29 5 14.71 28 0 0.00 LOC96610 96610 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 22664606 22664606 A G SNP LOC96610 ENST00000426066 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors LL22NC03-80A10.6 Clone_based_vega_gene ENSG00000236850 23 3 11.54 15 0 0.00 LONP1 9361 genome.wustl.edu 37 19 5694527 5694527 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 5694527 5694527 C T SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.2191 p.E731K 0.468 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC ENSG00000196365 35 13 27.08 37 0 0.00 LONP1 9361 genome.wustl.edu 37 19 5696116 5696116 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5696116 5696116 C G SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.1962 p.E654D 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC ENSG00000196365 26 4 13.33 60 0 0.00 LONP1 9361 genome.wustl.edu 37 19 5719717 5719717 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 5719717 5719717 C T SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.427 p.E143K 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC ENSG00000196365 32 32 50.00 38 0 0.00 LONP2 83752 genome.wustl.edu 37 16 48278451 48278451 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48278451 48278451 C G SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.152 p.S51W 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 28 24 46.15 29 0 0.00 LONP2 83752 genome.wustl.edu 37 16 48368183 48368183 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 48368183 48368183 G A SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.1852 p.D618N 0.996 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 57 7 10.94 58 0 0.00 LONP2 83752 genome.wustl.edu 37 16 48385529 48385529 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 48385529 48385529 G C SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.2375 p.R792T 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 43 19 30.65 61 0 0.00 LONP2 83752 genome.wustl.edu 37 16 48385539 48385539 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 48385539 48385539 G A SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known silent c.2385 p.L795 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 18 22 55.00 48 0 0.00 LONRF1 91694 genome.wustl.edu 37 8 12586472 12586472 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 12586472 12586472 A T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1948 p.L650I 0.573 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 39 10 20.41 53 0 0.00 LONRF1 91694 genome.wustl.edu 37 8 12594212 12594212 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 12594212 12594212 C G SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1449 p.M483I 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 19 14 42.42 25 0 0.00 LONRF1 91694 genome.wustl.edu 37 8 12594230 12594230 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 12594230 12594230 G T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1431 p.F477L 1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 23 11 32.35 26 0 0.00 LONRF1 91694 genome.wustl.edu 37 8 12594605 12594605 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 12594605 12594605 G T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1158 p.S386R 0.992 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 42 5 10.64 28 0 0.00 LONRF2 164832 genome.wustl.edu 37 2 100903453 100903453 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 100903453 100903453 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1993 p.A665T 0.123 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 46 12 20.69 42 0 0.00 LONRF2 164832 genome.wustl.edu 37 2 100906845 100906845 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 100906845 100906845 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1795 p.V599M 0.178 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 14 8 36.36 26 0 0.00 LONRF2 164832 genome.wustl.edu 37 2 100915696 100915696 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 100915696 100915696 G A SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known silent c.1353 p.L451 0.950 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 29 4 12.12 35 0 0.00 LONRF2 164832 genome.wustl.edu 37 2 100915746 100915746 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 100915746 100915746 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1303 p.E435K 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 27 11 28.95 38 0 0.00 LONRF2 164832 genome.wustl.edu 37 2 100925654 100925654 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 100925654 100925654 G A SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.713 p.A238V 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 26 10 27.78 33 0 0.00 LONRF3 79836 genome.wustl.edu 37 X 118123583 118123583 + Nonsense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 118123583 118123583 C A SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known nonsense c.1272 p.C424* 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 40 17 29.82 50 0 0.00 LONRF3 79836 genome.wustl.edu 37 X 118124432 118124432 + Splice_Site SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 118124432 118124432 G A SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known splice_site c.1325-1 e5-1 0.975 - - - no_errors LONRF3 HGNC ENSG00000175556 35 24 40.68 44 0 0.00 LONRF3 79836 genome.wustl.edu 37 X 118143099 118143099 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 118143099 118143099 C G SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known nonsense c.1541 p.S514* 0.932 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 105 21 16.67 143 0 0.00 LOR 4014 genome.wustl.edu 37 1 153233506 153233506 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 153233506 153233506 C T SNP LOR ENST00000368742 human ensembl 70_37 +1 known silent c.81 p.G27 0.000 NULL NULL - no_errors LOR HGNC ENSG00000203782 7 5 41.67 8 0 0.00 LOXHD1 125336 genome.wustl.edu 37 18 44101084 44101084 + Silent SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 18 44101084 44101084 G T SNP LOXHD1 ENST00000441551 human ensembl 70_37 -1 known silent c.4629 p.A1543 0.002 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 30 4 11.76 46 0 0.00 LOXHD1 125336 genome.wustl.edu 37 18 44121822 44121822 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 18 44121822 44121822 C T SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known missense c.3830 p.R1277H 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 46 17 26.98 50 0 0.00 LOXHD1 125336 genome.wustl.edu 37 18 44126883 44126883 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 44126883 44126883 G C SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known silent c.3489 p.L1163 0.095 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 46 22 32.35 56 0 0.00 LOXHD1 125336 genome.wustl.edu 37 18 44140130 44140130 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 44140130 44140130 C T SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known missense c.2977 p.E993K 0.440 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 42 29 40.85 75 0 0.00 LOXL1-AS1 100287616 genome.wustl.edu 37 15 74210676 74210676 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 74210676 74210676 T C SNP LOXL1-AS1 ENST00000564194 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LOXL1-AS1 HGNC ENSG00000261801 34 22 39.29 34 0 0.00 LOXL1-AS1 100287616 genome.wustl.edu 37 15 74218664 74218664 + RNA SNP C C G TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 15 74218664 74218664 C G SNP LOXL1-AS1 ENST00000562130 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors LOXL1-AS1 HGNC ENSG00000261801 29 14 32.56 24 0 0.00 LOXL2 4017 genome.wustl.edu 37 8 23159627 23159627 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23159627 23159627 G C SNP LOXL2 ENST00000389131 human ensembl 70_37 -1 known silent c.2046 p.T682 0.998 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL2 HGNC ENSG00000134013 41 16 28.07 32 0 0.00 LOXL3 84695 genome.wustl.edu 37 2 74762422 74762422 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 74762422 74762422 C G SNP LOXL3 ENST00000264094 human ensembl 70_37 -1 known missense c.1576 p.E526Q 1.000 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 26 8 23.53 47 0 0.00 LOXL4 84171 genome.wustl.edu 37 10 100013465 100013465 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 100013465 100013465 G A SNP LOXL4 ENST00000260702 human ensembl 70_37 -1 known silent c.1680 p.H560 0.474 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC ENSG00000138131 90 10 10.00 78 0 0.00 LPA 4018 genome.wustl.edu 37 6 161026196 161026196 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 161026196 161026196 C T SNP LPA ENST00000316300 human ensembl 70_37 -1 known missense c.2827 p.G943R 0.017 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors LPA HGNC ENSG00000198670 123 67 35.08 149 0 0.00 LPA 4018 genome.wustl.edu 37 6 161071489 161071489 + Missense_Mutation SNP A A C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 161071489 161071489 A C SNP LPA ENST00000316300 human ensembl 70_37 -1 known missense c.90 p.H30Q 0.039 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors LPA HGNC ENSG00000198670 130 69 34.67 177 0 0.00 LPAL2 80350 genome.wustl.edu 37 6 160905275 160905275 + RNA SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 160905275 160905275 T C SNP LPAL2 ENST00000335388 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors LPAL2 HGNC ENSG00000213071 138 19 12.10 48 0 0.00 LPAL2 80350 genome.wustl.edu 37 6 160906846 160906846 + Splice_Site SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 160906846 160906846 C T SNP LPAL2 ENST00000335388 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.969 - - - no_errors LPAL2 HGNC ENSG00000213071 122 51 29.48 229 0 0.00 LPAL2 80350 genome.wustl.edu 37 6 160932133 160932133 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 160932133 160932133 C G SNP LPAL2 ENST00000335388 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC ENSG00000213071 91 20 18.02 129 0 0.00 LPAR1 1902 genome.wustl.edu 37 9 113704131 113704131 + Nonsense_Mutation SNP C C T TCGA-C5-A2LY-01A-31D-A18J-09 TCGA-C5-A2LY-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 047f9e4d-86b5-4943-aef5-68199bf29e8c 433b41e8-d79a-4da0-a700-821cd97cc1b9 9 113704131 113704131 C T SNP LPAR1 ENST00000538760 human ensembl 70_37 -1 known nonsense c.366 p.W122* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 18 4 18.18 69 0 0.00 LPAR1 1902 genome.wustl.edu 37 9 113704217 113704217 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 113704217 113704217 C A SNP LPAR1 ENST00000538760 human ensembl 70_37 -1 known missense c.280 p.A94S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 104 48 31.58 133 0 0.00 LPAR2 9170 genome.wustl.edu 37 19 19737448 19737448 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19737448 19737448 G A SNP LPAR2 ENST00000407877 human ensembl 70_37 -1 known missense c.646 p.R216W 0.022 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt,prints_S1P_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 61 23 27.38 69 0 0.00 LPAR3 23566 genome.wustl.edu 37 1 85331733 85331733 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 85331733 85331733 T A SNP LPAR3 ENST00000370611 human ensembl 70_37 -1 known missense c.71 p.D24V 0.996 prints_LPA_rcpt_EDG7,prints_LPA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 16 4 20.00 29 0 0.00 LPAR4 2846 genome.wustl.edu 37 X 78010489 78010489 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 78010489 78010489 C G SNP LPAR4 ENST00000373301 human ensembl 70_37 +1 known silent c.123 p.L41 1.000 prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_7TM - no_errors LPAR4 HGNC ENSG00000147145 77 10 11.36 89 0 0.00 LPAR5 57121 genome.wustl.edu 37 12 6730127 6730127 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6730127 6730127 C T SNP LPAR5 ENST00000329858 human ensembl 70_37 -1 known silent c.288 p.T96 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors LPAR5 HGNC ENSG00000184574 53 18 25.00 94 0 0.00 LPCAT1 79888 genome.wustl.edu 37 5 1479738 1479738 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 1479738 1479738 C G SNP LPCAT1 ENST00000283415 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors LPCAT1 HGNC ENSG00000153395 43 14 24.56 77 0 0.00 LPCAT1 79888 genome.wustl.edu 37 5 1483582 1483582 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 1483582 1483582 C T SNP LPCAT1 ENST00000283415 human ensembl 70_37 -1 known silent c.687 p.A229 0.232 smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors LPCAT1 HGNC ENSG00000153395 59 24 28.57 122 0 0.00 LPCAT2 54947 genome.wustl.edu 37 16 55543252 55543252 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 55543252 55543252 G A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known silent c.159 p.A53 0.000 NULL pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 6 3 33.33 13 0 0.00 LPCAT2 54947 genome.wustl.edu 37 16 55562473 55562473 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 55562473 55562473 C T SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known nonsense c.496 p.R166* 0.625 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 34 23 40.35 42 0 0.00 LPCAT2 54947 genome.wustl.edu 37 16 55562474 55562474 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 55562474 55562474 G A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known missense c.497 p.R166Q 0.670 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 17 14 45.16 60 0 0.00 LPCAT2 54947 genome.wustl.edu 37 16 55563840 55563840 + Nonsense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 55563840 55563840 C A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known nonsense c.623 p.S208* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 21 6 22.22 29 0 0.00 LPCAT2 54947 genome.wustl.edu 37 16 55584987 55584987 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 55584987 55584987 G C SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known missense c.1188 p.L396F 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 45 22 32.84 44 0 0.00 LPCAT3 10162 genome.wustl.edu 37 12 7086371 7086371 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 7086371 7086371 G A SNP LPCAT3 ENST00000261407 human ensembl 70_37 -1 known silent c.1401 p.F467 0.038 NULL pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 18 7 28.00 29 0 0.00 LPCAT4 254531 genome.wustl.edu 37 15 34654791 34654791 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 34654791 34654791 A C SNP LPCAT4 ENST00000314891 human ensembl 70_37 -1 known silent c.867 p.V289 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 10 15 60.00 20 0 0.00 LPGAT1 9926 genome.wustl.edu 37 1 211952327 211952327 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 211952327 211952327 C T SNP LPGAT1 ENST00000366996 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC ENSG00000123684 308 55 15.11 252 0 0.00 LPGAT1 9926 genome.wustl.edu 37 1 211966659 211966659 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 211966659 211966659 G C SNP LPGAT1 ENST00000498690 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors LPGAT1 HGNC ENSG00000123684 8 5 38.46 14 0 0.00 LPHN1 22859 genome.wustl.edu 37 19 14261736 14261736 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 14261736 14261736 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known silent c.4374 p.E1458 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 33 21 38.89 24 0 0.00 LPHN1 22859 genome.wustl.edu 37 19 14266174 14266174 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14266174 14266174 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known silent c.3306 p.K1102 1.000 prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 39 16 29.09 36 0 0.00 LPHN1 22859 genome.wustl.edu 37 19 14266197 14266197 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 14266197 14266197 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.3283 p.V1095I 0.998 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 34 25 42.37 65 0 0.00 LPHN1 22859 genome.wustl.edu 37 19 14270986 14270986 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14270986 14270986 C G SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.1753 p.D585H 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 45 29 39.19 76 0 0.00 LPHN1 22859 genome.wustl.edu 37 19 14271452 14271452 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14271452 14271452 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.1582 p.D528N 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 20 7 25.93 47 0 0.00 LPHN2 23266 genome.wustl.edu 37 1 82302631 82302631 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 82302631 82302631 C A SNP LPHN2 ENST00000469377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LPHN2 HGNC ENSG00000117114 9 5 35.71 41 0 0.00 LPHN2 23266 genome.wustl.edu 37 1 82372833 82372833 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 82372833 82372833 G A SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.205 p.D69N 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC ENSG00000117114 41 6 12.50 51 0 0.00 LPHN2 23266 genome.wustl.edu 37 1 82408901 82408901 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 82408901 82408901 G A SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.646 p.D216N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC ENSG00000117114 19 7 26.92 31 0 0.00 LPHN2 23266 genome.wustl.edu 37 1 82416115 82416115 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 82416115 82416115 C T SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known nonsense c.1441 p.Q481* 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC ENSG00000117114 62 22 26.19 84 0 0.00 LPHN2 23266 genome.wustl.edu 37 1 82433881 82433881 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 82433881 82433881 G T SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.2509 p.A837S 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC ENSG00000117114 35 4 10.26 53 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62452984 62452984 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 62452984 62452984 G C SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.299 p.R100T 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 13 8 38.10 14 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62598964 62598964 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 62598964 62598964 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1091 p.R364Q 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 13 9 40.91 32 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62599062 62599062 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 62599062 62599062 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1189 p.D397N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 15 11 42.31 31 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62761478 62761478 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 62761478 62761478 G T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1813 p.D605Y 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 17 6 26.09 58 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62761547 62761547 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 62761547 62761547 C G SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1882 p.Q628E 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 33 6 15.38 75 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62800635 62800635 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 62800635 62800635 G T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.2190 p.Q730H 0.997 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 33 4 10.81 54 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62812737 62812737 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 62812737 62812737 C A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.2525 p.S842Y 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 71 49 40.83 86 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62845482 62845482 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 62845482 62845482 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.3007 p.D1003N 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 27 13 32.50 70 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62903458 62903458 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 62903458 62903458 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.3574 p.E1192K 1.000 prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 32 7 17.95 46 0 0.00 LPHN3 23284 genome.wustl.edu 37 4 62936592 62936592 + Nonsense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 62936592 62936592 C G SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known nonsense c.4553 p.S1518* 0.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 12 13 52.00 39 0 0.00 LPIN1 23175 genome.wustl.edu 37 2 11881504 11881504 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 11881504 11881504 C T SNP LPIN1 ENST00000464517 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors LPIN1 HGNC ENSG00000134324 50 22 30.56 83 0 0.00 LPIN1 23175 genome.wustl.edu 37 2 11913826 11913826 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 11913826 11913826 C T SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known missense c.824 p.S275L 0.990 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 34 5 12.82 30 0 0.00 LPIN1 23175 genome.wustl.edu 37 2 11919735 11919735 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 11919735 11919735 G A SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known missense c.1068 p.M356I 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 65 14 17.72 106 0 0.00 LPIN1 23175 genome.wustl.edu 37 2 11945248 11945248 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 11945248 11945248 C T SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known nonsense c.2362 p.Q788* 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 51 25 32.89 119 1 0.83 LPIN1 23175 genome.wustl.edu 37 2 11964764 11964764 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 11964764 11964764 G A SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known silent c.2775 p.V925 0.988 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 60 23 27.71 101 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2921538 2921538 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 2921538 2921538 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.2435 p.R812H 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 21 28 57.14 48 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2928604 2928604 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 2928604 2928604 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known silent c.1605 p.Q535 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 8 19 70.37 26 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2931377 2931377 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 2931377 2931377 G T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.1333 p.Q445K 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 28 6 17.65 73 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2937748 2937748 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 2937748 2937748 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known silent c.1110 p.A370 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 77 11 12.50 57 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2937846 2937846 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 2937846 2937846 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.1012 p.D338N 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 41 13 24.07 56 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2938016 2938016 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 2938016 2938016 G C SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.842 p.S281C 0.001 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 40 13 24.53 79 0 0.00 LPIN2 9663 genome.wustl.edu 37 18 2951060 2951060 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 18 2951060 2951060 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.583 p.A195T 0.760 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 12 3 20.00 25 0 0.00 LPIN3 64900 genome.wustl.edu 37 20 39987182 39987182 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 39987182 39987182 C T SNP LPIN3 ENST00000373257 human ensembl 70_37 +1 known missense c.2411 p.T804M 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 81 51 38.06 120 0 0.00 LPL 4023 genome.wustl.edu 37 8 19809403 19809403 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 19809403 19809403 G A SNP LPL ENST00000311322 human ensembl 70_37 +1 known missense c.373 p.A125T 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase,tigrfam_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 26 5 16.13 60 0 0.00 LPL 4023 genome.wustl.edu 37 8 19816872 19816872 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 19816872 19816872 G C SNP LPL ENST00000311322 human ensembl 70_37 +1 known missense c.1120 p.E374Q 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,tigrfam_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 23 6 20.69 54 0 0.00 LPL 4023 genome.wustl.edu 37 8 19818550 19818550 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 19818550 19818550 C T SNP LPL ENST00000311322 human ensembl 70_37 +1 known silent c.1278 p.F426 0.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,tigrfam_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 5 19 79.17 41 0 0.00 LPO 4025 genome.wustl.edu 37 17 56324982 56324982 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 56324982 56324982 C G SNP LPO ENST00000262290 human ensembl 70_37 +1 known missense c.308 p.S103C 0.006 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 89 24 21.24 132 0 0.00 LPO 4025 genome.wustl.edu 37 17 56327979 56327979 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 56327979 56327979 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.777 p.I259 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 49 6 10.91 47 0 0.00 LPO 4025 genome.wustl.edu 37 17 56329551 56329551 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56329551 56329551 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.789 p.P263 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 77 28 26.67 74 0 0.00 LPO 4025 genome.wustl.edu 37 17 56332227 56332227 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56332227 56332227 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.1161 p.L387 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 67 10 12.99 81 0 0.00 LPO 4025 genome.wustl.edu 37 17 56343535 56343535 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 56343535 56343535 G A SNP LPO ENST00000262290 human ensembl 70_37 +1 known missense c.1541 p.R514Q 0.789 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 24 12 33.33 48 0 0.00 LPO 4025 genome.wustl.edu 37 17 56344897 56344897 + Silent SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 56344897 56344897 C A SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.1881 p.L627 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 18 8 30.77 34 0 0.00 LPP 4026 genome.wustl.edu 37 3 188327575 188327575 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 188327575 188327575 G A SNP LPP ENST00000312675 human ensembl 70_37 +1 known silent c.1056 p.K352 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 81 22 21.36 46 0 0.00 LPP 4026 genome.wustl.edu 37 3 188592179 188592179 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 188592179 188592179 G A SNP LPP ENST00000312675 human ensembl 70_37 +1 known missense c.1751 p.C584Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 102 25 19.69 52 0 0.00 LPPR2 64748 genome.wustl.edu 37 19 11470166 11470166 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11470166 11470166 C T SNP LPPR2 ENST00000586431 human ensembl 70_37 +1 novel rna NULL NULL 0.003 - - - no_errors LPPR2 Uniprot_genename ENSG00000105520 13 11 45.83 24 0 0.00 LPPR2 64748 genome.wustl.edu 37 19 11472092 11472092 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 11472092 11472092 C T SNP LPPR2 ENST00000591608 human ensembl 70_37 +1 known silent c.516 p.L172 0.955 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Uniprot_genename ENSG00000105520 16 4 20.00 32 0 0.00 LPPR2 64748 genome.wustl.edu 37 19 11475044 11475044 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 11475044 11475044 G A SNP LPPR2 ENST00000591608 human ensembl 70_37 +1 known missense c.962 p.R321H 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Uniprot_genename ENSG00000105520 51 10 16.39 38 0 0.00 LPPR3 79948 genome.wustl.edu 37 19 814735 814735 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 814735 814735 G C SNP LPPR3 ENST00000359894 human ensembl 70_37 -1 known missense c.614 p.S205C 0.998 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_genename ENSG00000129951 80 42 34.43 81 0 0.00 LPPR3 79948 genome.wustl.edu 37 19 815241 815241 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 815241 815241 G C SNP LPPR3 ENST00000359894 human ensembl 70_37 -1 known missense c.348 p.I116M 0.998 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_genename ENSG00000129951 9 7 43.75 13 0 0.00 LPPR4 9890 genome.wustl.edu 37 1 99766487 99766487 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 99766487 99766487 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known missense c.757 p.A253T 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename ENSG00000117600 43 35 44.87 89 0 0.00 LPPR4 9890 genome.wustl.edu 37 1 99771315 99771315 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 99771315 99771315 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known silent c.1041 p.L347 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename ENSG00000117600 58 7 10.77 61 0 0.00 LPPR4 9890 genome.wustl.edu 37 1 99771889 99771889 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 99771889 99771889 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known missense c.1615 p.E539K 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename ENSG00000117600 15 8 34.78 46 0 0.00 LPPR5 163404 genome.wustl.edu 37 1 99422185 99422185 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 99422185 99422185 C T SNP LPPR5 ENST00000263177 human ensembl 70_37 -1 known missense c.350 p.R117H 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_genename ENSG00000117598 27 13 32.50 55 0 0.00 LPXN 9404 genome.wustl.edu 37 11 58295017 58295017 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 58295017 58295017 G A SNP LPXN ENST00000528954 human ensembl 70_37 -1 known silent c.1086 p.F362 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 34 5 12.82 32 0 0.00 LPXN 9404 genome.wustl.edu 37 11 58318619 58318619 + Silent SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 58318619 58318619 C A SNP LPXN ENST00000528954 human ensembl 70_37 -1 known silent c.420 p.L140 1.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 43 11 18.03 44 0 0.00 LPXN 9404 genome.wustl.edu 37 11 58322403 58322403 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 58322403 58322403 C T SNP LPXN ENST00000528954 human ensembl 70_37 -1 known missense c.244 p.E82K 0.975 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 48 37 43.53 71 0 0.00 LRAT 9227 genome.wustl.edu 37 4 155665567 155665567 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 155665567 155665567 C T SNP LRAT ENST00000336356 human ensembl 70_37 +1 known missense c.89 p.A30V 0.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 26 20 43.48 33 0 0.00 LRBA 987 genome.wustl.edu 37 4 151752977 151752977 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 151752977 151752977 G A SNP LRBA ENST00000357115 human ensembl 70_37 -1 known missense c.4721 p.S1574L 0.023 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 104 42 28.77 109 0 0.00 LRBA 987 genome.wustl.edu 37 4 151818937 151818937 + Missense_Mutation SNP G G C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 4 151818937 151818937 G C SNP LRBA ENST00000357115 human ensembl 70_37 -1 known missense c.1958 p.S653C 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 20 8 28.57 29 0 0.00 LRBA 987 genome.wustl.edu 37 4 151829834 151829834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151829834 151829834 G T SNP LRBA ENST00000357115 human ensembl 70_37 -1 known nonsense c.1337 p.S446* 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 21 8 27.59 38 0 0.00 LRBA 987 genome.wustl.edu 37 4 151829838 151829838 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151829838 151829838 G A SNP LRBA ENST00000357115 human ensembl 70_37 -1 known missense c.1333 p.H445Y 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 21 8 27.59 41 0 0.00 LRCH1 23143 genome.wustl.edu 37 13 47243273 47243273 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 47243273 47243273 C T SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known silent c.561 p.L187 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 30 20 40.00 40 0 0.00 LRCH1 23143 genome.wustl.edu 37 13 47255939 47255939 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 47255939 47255939 G A SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known missense c.643 p.E215K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 8 7 46.67 15 0 0.00 LRCH1 23143 genome.wustl.edu 37 13 47315857 47315857 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 13 47315857 47315857 C T SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known silent c.2061 p.L687 0.969 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 40 8 16.67 70 0 0.00 LRCH2 57631 genome.wustl.edu 37 X 114347796 114347796 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 114347796 114347796 G A SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known nonsense c.2281 p.Q761* 1.000 superfamily_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 36 9 20.00 55 0 0.00 LRCH2 57631 genome.wustl.edu 37 X 114357165 114357165 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 114357165 114357165 G C SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known silent c.2103 p.P701 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 89 34 27.64 126 1 0.78 LRCH2 57631 genome.wustl.edu 37 X 114384485 114384485 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 114384485 114384485 G T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known missense c.1600 p.Q534K 0.998 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 57 21 26.92 60 0 0.00 LRCH2 57631 genome.wustl.edu 37 X 114391210 114391210 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 114391210 114391210 G T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known missense c.1484 p.S495Y 0.986 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 35 14 28.57 58 0 0.00 LRCH2 57631 genome.wustl.edu 37 X 114399998 114399998 + Missense_Mutation SNP C C T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 X 114399998 114399998 C T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known missense c.1325 p.R442Q 1.000 superfamily_NA-bd_OB-fold-like pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 76 34 30.91 70 0 0.00 LRCH2 57631 genome.wustl.edu 37 X 114414315 114414315 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 114414315 114414315 C T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known splice_site c.622-1 e4-1 1.000 - - - no_errors LRCH2 HGNC ENSG00000130224 24 4 14.29 26 0 0.00 LRCH3 84859 genome.wustl.edu 37 3 197547201 197547201 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 197547201 197547201 G A SNP LRCH3 ENST00000443727 human ensembl 70_37 +1 known missense c.268 p.E90K 0.997 NULL NULL - no_errors LRCH3 HGNC ENSG00000186001 137 35 20.35 50 0 0.00 LRCH3 84859 genome.wustl.edu 37 3 197547211 197547211 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 197547211 197547211 G A SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 138 40 22.47 49 0 0.00 LRCH3 84859 genome.wustl.edu 37 3 197574839 197574839 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 197574839 197574839 G C SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.1477 p.E493Q 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 105 16 13.22 61 0 0.00 LRCH3 84859 genome.wustl.edu 37 3 197593020 197593020 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 197593020 197593020 C G SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.1803 p.I601M 0.927 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 171 81 32.14 67 0 0.00 LRCH3 84859 genome.wustl.edu 37 3 197602611 197602611 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 197602611 197602611 T G SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.2173 p.F725V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 8 6 42.86 30 0 0.00 LRCH4 4034 genome.wustl.edu 37 7 100172787 100172787 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100172787 100172787 G A SNP LRCH4 ENST00000310300 human ensembl 70_37 -1 known silent c.1995 p.F665 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 24 9 27.27 45 0 0.00 LRCOL1 100507055 genome.wustl.edu 37 12 133181325 133181325 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 133181325 133181325 C G SNP LRCOL1 ENST00000376608 human ensembl 70_37 -1 known rna NULL NULL 0.184 - - - no_errors LRCOL1 HGNC ENSG00000204583 41 12 22.64 62 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39798861 39798861 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39798861 39798861 G C SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known silent c.1728 p.L576 0.943 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 28 5 15.15 41 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39799112 39799112 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 39799112 39799112 C T SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.1477 p.V493M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 4 4 50.00 22 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39804698 39804698 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 39804698 39804698 G A SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.1279 p.R427W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 71 16 18.39 39 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39805231 39805231 + Missense_Mutation SNP A A C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 39805231 39805231 A C SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.746 p.F249C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 23 13 36.11 13 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39805231 39805231 + Missense_Mutation SNP A A C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 39805231 39805231 A C SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.746 p.F249C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 67 24 26.37 21 0 0.00 LRFN1 57622 genome.wustl.edu 37 19 39805372 39805372 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 19 39805372 39805372 G A SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.605 p.A202V 0.987 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC ENSG00000128011 34 7 17.07 45 0 0.00 LRFN2 57497 genome.wustl.edu 37 6 40359788 40359788 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 40359788 40359788 C T SNP LRFN2 ENST00000338305 human ensembl 70_37 -1 known missense c.2264 p.R755H 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 6 12 66.67 17 0 0.00 LRFN2 57497 genome.wustl.edu 37 6 40400385 40400385 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 40400385 40400385 G C SNP LRFN2 ENST00000338305 human ensembl 70_37 -1 known silent c.468 p.L156 0.980 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 64 23 26.44 112 0 0.00 LRFN3 79414 genome.wustl.edu 37 19 36430545 36430545 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36430545 36430545 C T SNP LRFN3 ENST00000246529 human ensembl 70_37 +1 known missense c.218 p.S73F 0.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN3 HGNC ENSG00000126243 4 3 42.86 12 0 0.00 LRFN3 79414 genome.wustl.edu 37 19 36431465 36431465 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 36431465 36431465 G A SNP LRFN3 ENST00000246529 human ensembl 70_37 +1 known missense c.1138 p.E380K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN3 HGNC ENSG00000126243 44 17 27.87 70 0 0.00 LRFN5 145581 genome.wustl.edu 37 14 42077499 42077499 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 42077499 42077499 C G SNP LRFN5 ENST00000555279 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC ENSG00000165379 12 19 61.29 27 0 0.00 LRFN5 145581 genome.wustl.edu 37 14 42077623 42077623 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 42077623 42077623 G A SNP LRFN5 ENST00000553926 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC ENSG00000165379 47 8 14.29 104 0 0.00 LRFN5 145581 genome.wustl.edu 37 14 42355841 42355841 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 42355841 42355841 C A SNP LRFN5 ENST00000298119 human ensembl 70_37 +1 known missense c.13 p.L5I 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 14 9 39.13 49 0 0.00 LRFN5 145581 genome.wustl.edu 37 14 42361085 42361085 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 42361085 42361085 C G SNP LRFN5 ENST00000298119 human ensembl 70_37 +1 known nonsense c.2018 p.S673* 0.997 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 56 12 17.65 73 0 0.00 LRG1 116844 genome.wustl.edu 37 19 4538053 4538053 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4538053 4538053 G C SNP LRG1 ENST00000306390 human ensembl 70_37 -1 known missense c.943 p.Q315E 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 19 25 56.82 46 0 0.00 LRG1 116844 genome.wustl.edu 37 19 4538642 4538642 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 4538642 4538642 C G SNP LRG1 ENST00000306390 human ensembl 70_37 -1 known silent c.354 p.L118 0.003 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 40 10 20.00 39 0 0.00 LRGUK 136332 genome.wustl.edu 37 7 133812377 133812377 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 133812377 133812377 G A SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known missense c.257 p.G86E 0.000 NULL pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC ENSG00000155530 32 22 40.74 41 0 0.00 LRGUK 136332 genome.wustl.edu 37 7 133848242 133848242 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133848242 133848242 G T SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known missense c.889 p.G297C 1.000 pfam_Leu-rich_rpt pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC ENSG00000155530 38 11 22.45 46 0 0.00 LRGUK 136332 genome.wustl.edu 37 7 133881815 133881815 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 133881815 133881815 C T SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known silent c.1503 p.I501 0.992 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC ENSG00000155530 37 14 27.45 61 0 0.00 LRGUK 136332 genome.wustl.edu 37 7 133943057 133943057 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 133943057 133943057 T C SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known silent c.2247 p.C749 0.000 NULL pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC ENSG00000155530 36 28 43.75 100 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111490913 111490913 + Missense_Mutation SNP C C G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 111490913 111490913 C G SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.1978 p.V660L 0.223 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 86 44 33.85 124 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111494244 111494244 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 111494244 111494244 G T SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.1262 p.S421Y 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 26 4 13.33 22 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111494338 111494338 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111494338 111494338 G C SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.1168 p.P390A 0.992 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 10 11 50.00 20 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111494603 111494603 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 111494603 111494603 C T SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known silent c.903 p.T301 0.898 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 31 12 27.91 56 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111494681 111494681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 111494681 111494681 C G SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.825 p.E275D 0.972 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 23 17 42.50 47 0 0.00 LRIF1 55791 genome.wustl.edu 37 1 111506249 111506249 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 111506249 111506249 G A SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.62 p.S21L 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 96 28 22.58 95 0 0.00 LRIG1 26018 genome.wustl.edu 37 3 66431162 66431162 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 66431162 66431162 G T SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.2894 p.P965Q 0.003 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 42 5 10.64 26 0 0.00 LRIG1 26018 genome.wustl.edu 37 3 66433434 66433434 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 66433434 66433434 C G SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.2463 p.K821N 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 27 19 41.30 58 0 0.00 LRIG1 26018 genome.wustl.edu 37 3 66455646 66455646 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 66455646 66455646 G A SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.1136 p.S379L 0.057 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 47 7 12.96 47 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113616103 113616103 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 113616103 113616103 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known silent c.75 p.L25 0.002 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 43 32 42.67 50 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113657099 113657099 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 113657099 113657099 G A SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2131 p.E711K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 33 19 36.54 44 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113657360 113657360 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 113657360 113657360 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2392 p.H798Y 0.935 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 53 46 46.46 59 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113657443 113657443 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 113657443 113657443 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known silent c.2475 p.V825 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 21 16 43.24 11 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113658995 113658995 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 113658995 113658995 G A SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2617 p.E873K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 70 9 11.39 91 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113667099 113667099 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 113667099 113667099 C T SNP LRIG2 ENST00000466161 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRIG2 HGNC ENSG00000198799 22 15 40.54 35 0 0.00 LRIG2 9860 genome.wustl.edu 37 1 113667275 113667275 + RNA SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 113667275 113667275 C G SNP LRIG2 ENST00000466161 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors LRIG2 HGNC ENSG00000198799 27 7 20.00 31 0 0.00 LRIG3 121227 genome.wustl.edu 37 12 59266440 59266440 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 59266440 59266440 G A SNP LRIG3 ENST00000320743 human ensembl 70_37 -1 known nonsense c.3274 p.Q1092* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 28 10 26.32 46 0 0.00 LRIG3 121227 genome.wustl.edu 37 12 59284455 59284455 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 59284455 59284455 G C SNP LRIG3 ENST00000320743 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 61 17 21.79 69 0 0.00 LRIG3 121227 genome.wustl.edu 37 12 59308076 59308076 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 59308076 59308076 G C SNP LRIG3 ENST00000320743 human ensembl 70_37 -1 known missense c.278 p.S93C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 129 42 24.56 121 0 0.00 LRIT1 26103 genome.wustl.edu 37 10 85997035 85997035 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 85997035 85997035 G C SNP LRIT1 ENST00000372105 human ensembl 70_37 -1 known missense c.530 p.S177C 0.019 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 19 13 40.62 26 0 0.00 LRIT1 26103 genome.wustl.edu 37 10 85997188 85997188 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 85997188 85997188 G A SNP LRIT1 ENST00000372105 human ensembl 70_37 -1 known missense c.377 p.A126V 0.990 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 2 4 66.67 9 0 0.00 LRIT1 26103 genome.wustl.edu 37 10 86001174 86001174 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 10 86001174 86001174 G T SNP LRIT1 ENST00000372105 human ensembl 70_37 -1 known missense c.22 p.L8I 0.992 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 35 4 10.26 33 0 0.00 LRIT2 340745 genome.wustl.edu 37 10 85984189 85984189 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 85984189 85984189 G A SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known silent c.792 p.I264 0.052 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 36 43 54.43 58 0 0.00 LRIT2 340745 genome.wustl.edu 37 10 85984344 85984344 + Missense_Mutation SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 85984344 85984344 G T SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known missense c.637 p.Q213K 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 79 28 26.17 104 0 0.00 LRIT2 340745 genome.wustl.edu 37 10 85984450 85984450 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 85984450 85984450 G T SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known nonsense c.531 p.Y177* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 26 4 13.33 20 0 0.00 LRIT2 340745 genome.wustl.edu 37 10 85985198 85985198 + Nonsense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 85985198 85985198 C A SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known nonsense c.79 p.G27* 0.601 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 18 3 14.29 38 0 0.00 LRIT3 345193 genome.wustl.edu 37 4 110791137 110791137 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 110791137 110791137 C T SNP LRIT3 ENST00000594814 human ensembl 70_37 +1 known missense c.1232 p.S411F 0.324 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT3 HGNC ENSG00000183423 58 46 44.23 137 0 0.00 LRMP 4033 genome.wustl.edu 37 12 25185115 25185115 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 25185115 25185115 G A SNP LRMP ENST00000557270 human ensembl 70_37 +1 known rna NULL NULL 0.164 - - - no_errors LRMP HGNC ENSG00000118308 27 11 28.95 30 0 0.00 LRMP 4033 genome.wustl.edu 37 12 25186727 25186727 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 25186727 25186727 C G SNP LRMP ENST00000556485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRMP HGNC ENSG00000118308 15 9 37.50 19 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57522810 57522810 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 57522810 57522810 C G SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.63 p.I21M 0.689 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 70 36 33.96 104 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57538819 57538819 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57538819 57538819 C T SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.513 p.F171 0.997 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 42 25 36.76 36 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57543506 57543506 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 57543506 57543506 C T SNP LRP1 ENST00000553277 human ensembl 70_37 +1 putative silent c.885 p.H295 0.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 23 18 43.90 36 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57556149 57556149 + Missense_Mutation SNP A A G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 57556149 57556149 A G SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.2252 p.H751R 1.000 pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 41 38 48.10 57 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57559991 57559991 + Silent SNP A A G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 12 57559991 57559991 A G SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.2796 p.S932 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 6 2 25.00 10 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57578215 57578215 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 57578215 57578215 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.6166 p.G2056S 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 62 29 31.87 71 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57578643 57578643 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 57578643 57578643 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.6208 p.D2070N 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 39 28 41.79 69 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57592445 57592445 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 57592445 57592445 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.9668 p.R3223H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 15 9 37.50 40 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57598989 57598989 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 57598989 57598989 C T SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.11292 p.F3764 0.765 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 25 8 24.24 25 0 0.00 LRP1 4035 genome.wustl.edu 37 12 57604559 57604559 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 57604559 57604559 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.12813 p.V4271 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 21 8 27.59 43 0 0.00 LRP11 84918 genome.wustl.edu 37 6 150157417 150157417 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 150157417 150157417 C G SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.1056 p.K352N 0.602 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 52 13 20.00 34 0 0.00 LRP11 84918 genome.wustl.edu 37 6 150157417 150157417 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 150157417 150157417 C G SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.1056 p.K352N 0.602 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 70 20 22.22 107 0 0.00 LRP11 84918 genome.wustl.edu 37 6 150158587 150158587 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 150158587 150158587 G A SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.926 p.T309I 0.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 31 23 42.59 57 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105502134 105502134 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 8 105502134 105502134 T C SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRP12 HGNC ENSG00000147650 38 10 20.83 47 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105502451 105502452 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 8 105502451 105502452 - T INS LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors LRP12 HGNC ENSG00000147650 54 7 11.48 59 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105502517 105502517 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105502517 105502517 G T SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRP12 HGNC ENSG00000147650 17 9 34.62 18 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105502654 105502654 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 105502654 105502654 C G SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 0.980 - - - no_errors LRP12 HGNC ENSG00000147650 33 18 35.29 32 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105511574 105511574 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 105511574 105511574 C G SNP LRP12 ENST00000424843 human ensembl 70_37 -1 known missense c.389 p.R130T 0.886 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 52 18 25.71 35 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105521183 105521183 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105521183 105521183 C T SNP LRP12 ENST00000424843 human ensembl 70_37 -1 known missense c.199 p.E67K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 12 6 33.33 26 0 0.00 LRP12 29967 genome.wustl.edu 37 8 105544149 105544149 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 105544149 105544149 G A SNP LRP12 ENST00000276654 human ensembl 70_37 -1 novel missense c.122 p.S41L 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 25 5 16.67 9 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141032110 141032110 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 141032110 141032110 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.13025 p.S4342N 0.863 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 2 26 92.86 36 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141032110 141032110 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 141032110 141032110 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.13025 p.S4342N 0.863 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 9 56 86.15 117 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141083363 141083363 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 141083363 141083363 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.12308 p.S4103C 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 4 3 42.86 25 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141092125 141092125 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 141092125 141092125 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.12120 p.M4040I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 16 5 23.81 84 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141093358 141093358 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 141093358 141093358 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.11942 p.G3981E 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 57 25 30.49 97 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141093401 141093401 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 141093401 141093401 C G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.11899 p.E3967Q 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 32 8 20.00 51 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141202189 141202189 + Missense_Mutation SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 141202189 141202189 C A SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.10117 p.A3373S 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 12 20 62.50 33 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141243034 141243034 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 141243034 141243034 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known silent c.9303 p.L3101 0.994 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 52 16 23.53 30 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141253266 141253266 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 141253266 141253266 C G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.8902 p.D2968H 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 18 22 55.00 70 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141298620 141298620 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 141298620 141298620 A G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.7435 p.C2479R 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 39 10 20.41 77 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141625357 141625357 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 141625357 141625357 C A SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known nonsense c.4381 p.E1461* 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 40 20 33.33 59 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141625763 141625763 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 2 141625763 141625763 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known silent c.4239 p.G1413 0.023 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 49 13 20.97 78 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141625833 141625833 + Splice_Site DEL C C - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 141625833 141625833 C - DEL LRP1B ENST00000389484 human ensembl 70_37 -1 known splice_site_del c.4170-1 e26-1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 29 7 19.44 25 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141643716 141643716 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 141643716 141643716 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.3955 p.E1319K 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 48 14 22.58 75 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141643896 141643896 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 141643896 141643896 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.3775 p.E1259K 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 40 6 13.04 39 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141806683 141806683 + Missense_Mutation SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 141806683 141806683 T C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.1661 p.N554S 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 32 9 21.95 42 0 0.00 LRP1B 53353 genome.wustl.edu 37 2 141812716 141812716 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 141812716 141812716 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.1521 p.F507L 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 18 8 30.77 27 0 0.00 LRP2 4036 genome.wustl.edu 37 2 169995136 169995136 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 169995136 169995136 C G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.13469 p.G4490A 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 30 16 34.78 46 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170011056 170011056 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170011056 170011056 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known nonsense c.12209 p.S4070* 1.000 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 25 16 39.02 41 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170022443 170022443 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 170022443 170022443 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.11757 p.H3919Q 0.740 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 189 56 22.86 247 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170022556 170022556 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 170022556 170022556 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.11644 p.P3882S 0.506 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 35 21 37.50 55 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170029697 170029697 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 170029697 170029697 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.11052 p.F3684 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 46 29 38.67 69 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170044576 170044576 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 170044576 170044576 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.9232 p.H3078D 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 133 18 11.92 151 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170048422 170048422 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 170048422 170048422 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.8952 p.E2984 0.920 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 26 6 18.75 29 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170060692 170060692 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 170060692 170060692 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7805 p.G2602D 0.999 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 40 15 27.27 34 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170060714 170060714 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 170060714 170060714 C A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7783 p.A2595S 0.983 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 25 22 46.81 27 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170062614 170062614 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 170062614 170062614 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7475 p.S2492F 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 32 10 23.81 37 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170063588 170063588 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 170063588 170063588 C A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6642 p.K2214N 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 33 17 34.00 59 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170063682 170063682 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170063682 170063682 A G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6548 p.V2183A 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 12 9 42.86 29 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170063720 170063720 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170063720 170063720 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.6510 p.L2170 0.983 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 89 22 19.82 122 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170066032 170066032 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 170066032 170066032 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6400 p.L2134V 0.993 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 35 4 10.26 46 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170068628 170068628 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 170068628 170068628 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6130 p.A2044T 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 79 33 29.46 74 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170082995 170082995 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170082995 170082995 T C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.5331 p.I1777M 0.005 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 16 13 44.83 42 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170097642 170097642 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 170097642 170097642 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.3901 p.D1301N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 69 13 15.85 51 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170103431 170103431 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 170103431 170103431 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.2974 p.P992S 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 22 9 29.03 33 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170127601 170127601 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 170127601 170127601 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.2133 p.L711 0.997 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 15 8 34.78 31 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170131735 170131735 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170131735 170131735 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1786 p.H596Y 0.886 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 59 27 31.40 36 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170134304 170134304 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170134304 170134304 C G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1723 p.D575H 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 30 52 63.41 58 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170135983 170135983 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 170135983 170135983 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.1464 p.V488 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 26 4 13.33 25 0 0.00 LRP2 4036 genome.wustl.edu 37 2 170136053 170136053 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 170136053 170136053 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.1394 p.S465F 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 15 11 42.31 10 0 0.00 LRP4 4038 genome.wustl.edu 37 11 46884233 46884233 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 46884233 46884233 C T SNP LRP4 ENST00000378623 human ensembl 70_37 -1 known missense c.5309 p.R1770Q 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 130 105 44.30 185 0 0.00 LRP4 4038 genome.wustl.edu 37 11 46896353 46896353 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46896353 46896353 G C SNP LRP4 ENST00000378623 human ensembl 70_37 -1 known missense c.4227 p.I1409M 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 42 18 30.00 72 0 0.00 LRP4-AS1 100507401 genome.wustl.edu 37 11 46894788 46894788 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 46894788 46894788 G A SNP LRP4-AS1 ENST00000502049 human ensembl 70_37 +1 known rna NULL NULL 0.448 - - - no_errors LRP4-AS1 HGNC ENSG00000247675 42 18 30.00 44 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68125245 68125245 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 68125245 68125245 G T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known nonsense c.616 p.E206* 0.998 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 30 6 16.67 43 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68131409 68131409 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68131409 68131409 T A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.881 p.F294Y 0.032 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 11 11 50.00 22 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68131409 68131409 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68131409 68131409 T A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.881 p.F294Y 0.032 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 4 7 63.64 12 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68173992 68173992 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68173992 68173992 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.1802 p.G601E 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 173 25 12.63 53 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68181426 68181426 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 68181426 68181426 C T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.2773 p.R925C 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 25 5 16.67 32 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68190979 68190979 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 68190979 68190979 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.3050 p.S1017N 0.184 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 49 25 33.78 76 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68192732 68192732 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 68192732 68192732 G C SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known silent c.3399 p.L1133 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 59 27 31.40 81 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68197163 68197163 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 68197163 68197163 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.3758 p.C1253Y 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 77 43 35.83 117 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68201306 68201306 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 68201306 68201306 G T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.4000 p.A1334S 0.959 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 47 8 14.55 47 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68207255 68207255 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 68207255 68207255 C T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known silent c.4359 p.C1453 0.121 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 39 19 32.76 75 0 0.00 LRP5 4041 genome.wustl.edu 37 11 68216290 68216290 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 68216290 68216290 C G SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.4600 p.R1534G 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 30 26 46.43 38 0 0.00 LRP5L 91355 genome.wustl.edu 37 22 25750617 25750617 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 25750617 25750617 C T SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known missense c.601 p.D201N 1.000 NULL pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 50 26 34.21 51 0 0.00 LRP5L 91355 genome.wustl.edu 37 22 25750768 25750768 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 25750768 25750768 G A SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known silent c.450 p.V150 0.652 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 46 19 29.23 89 0 0.00 LRP5L 91355 genome.wustl.edu 37 22 25750774 25750774 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 25750774 25750774 G A SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known silent c.444 p.I148 0.944 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 66 40 37.38 107 1 0.93 LRP5L 91355 genome.wustl.edu 37 22 25756029 25756029 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 25756029 25756029 C T SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 45 13 22.41 121 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12291357 12291358 + Frame_Shift_Ins INS - - T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291357 12291358 - T INS LRP6 ENST00000261349 human ensembl 70_37 -1 known frame_shift_ins c.3509_3508 p.I1170fs 1.000:1.000 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 156 41 20.81 137 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12291364 12291364 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291364 12291364 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.3502 p.E1168Q 1.000 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 144 45 23.56 133 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12291406 12291406 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291406 12291406 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.3460 p.E1154Q 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 119 44 26.99 119 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12303967 12303967 + Missense_Mutation SNP T T G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 12303967 12303967 T G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.2797 p.T933P 0.997 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 74 17 18.68 48 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12317428 12317428 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 12317428 12317428 G A SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.1831 p.R611C 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 13 9 40.91 33 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12318043 12318043 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 12318043 12318043 G C SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.1732 p.L578V 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 20 4 16.67 35 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12337018 12337018 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 12337018 12337018 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.872 p.G291A 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 47 11 18.97 41 0 0.00 LRP6 4040 genome.wustl.edu 37 12 12337018 12337018 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 12337018 12337018 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.872 p.G291A 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 68 36 34.62 126 0 0.00 LRP8 7804 genome.wustl.edu 37 1 53728200 53728200 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 53728200 53728200 C G SNP LRP8 ENST00000306052 human ensembl 70_37 -1 known missense c.1692 p.K564N 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP8 HGNC ENSG00000157193 32 22 40.74 63 0 0.00 LRPAP1 4043 genome.wustl.edu 37 4 3516584 3516584 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 3516584 3516584 G A SNP LRPAP1 ENST00000500728 human ensembl 70_37 -1 known silent c.906 p.H302 0.947 pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 13 12 48.00 38 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44123818 44123818 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 44123818 44123818 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known silent c.3855 p.P1285 0.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 102 28 21.37 143 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44145397 44145397 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 44145397 44145397 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.3037 p.E1013K 0.958 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 8 6 42.86 27 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44161369 44161372 + Frame_Shift_Del DEL AGGA AGGA - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 AGGA AGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 44161369 44161372 AGGA - DEL LRPPRC ENST00000260665 human ensembl 70_37 -1 known frame_shift_del c.2696_2693 p.F898fs 1.000:1.000:1.000:1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 6 2 25.00 62 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44161914 44161914 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 44161914 44161914 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.2608 p.E870K 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 20 12 37.50 25 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44175557 44175557 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 44175557 44175557 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known silent c.1836 p.E612 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 25 9 26.47 29 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44175581 44175581 + Missense_Mutation SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 44175581 44175581 C G SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1812 p.L604F 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 25 10 28.57 29 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44175581 44175581 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 44175581 44175581 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known silent c.1812 p.L604 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 19 9 32.14 37 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44175607 44175607 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 44175607 44175607 C G SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1786 p.E596Q 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 15 12 44.44 28 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44176759 44176759 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 44176759 44176759 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1717 p.E573K 0.925 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 8 12 60.00 37 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44177733 44177733 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 44177733 44177733 C G SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1656 p.M552I 0.973 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 42 27 39.13 53 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44190814 44190814 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 44190814 44190814 T A SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1401 p.E467D 0.005 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 29 10 25.64 40 0 0.00 LRPPRC 10128 genome.wustl.edu 37 2 44190816 44190816 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 44190816 44190816 C A SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known nonsense c.1399 p.E467* 0.275 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 258 53 16.93 227 0 0.00 LRR1 122769 genome.wustl.edu 37 14 50074299 50074299 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 50074299 50074299 C G SNP LRR1 ENST00000298288 human ensembl 70_37 +1 known missense c.464 p.S155C 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 42 8 16.00 41 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53761333 53761333 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 53761333 53761333 C T SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.484 p.L162F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 39 28 41.79 52 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53778727 53778727 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 53778727 53778727 C G SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.1066 p.Q356E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 88 34 27.87 127 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53784275 53784276 + RNA INS - - TA TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 53784275 53784276 - TA INS LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.012:0.001 - - - no_errors LRRC1 HGNC ENSG00000137269 47 6 11.32 52 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53784277 53784277 + RNA SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 53784277 53784277 A T SNP LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC1 HGNC ENSG00000137269 46 9 16.36 25 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53784278 53784278 + RNA SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 53784278 53784278 A T SNP LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC1 HGNC ENSG00000137269 13 5 27.78 40 0 0.00 LRRC1 55227 genome.wustl.edu 37 6 53787584 53787584 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 53787584 53787584 C T SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.1568 p.S523F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 31 6 16.22 51 0 0.00 LRRC10 376132 genome.wustl.edu 37 12 70003979 70003979 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 70003979 70003979 G C SNP LRRC10 ENST00000361484 human ensembl 70_37 -1 known missense c.640 p.L214V 0.987 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 21 25 54.35 54 0 0.00 LRRC10 376132 genome.wustl.edu 37 12 70004462 70004462 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 70004462 70004462 C T SNP LRRC10 ENST00000361484 human ensembl 70_37 -1 known missense c.157 p.E53K 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 15 4 21.05 18 0 0.00 LRRC14B 389257 genome.wustl.edu 37 5 191752 191752 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 191752 191752 C G SNP LRRC14B ENST00000328278 human ensembl 70_37 +1 novel silent c.99 p.L33 1.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 67 19 22.09 55 0 0.00 LRRC15 131578 genome.wustl.edu 37 3 194080433 194080433 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194080433 194080433 G A SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.418 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 35 19 35.19 30 0 0.00 LRRC15 131578 genome.wustl.edu 37 3 194080433 194080433 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 194080433 194080433 G A SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.418 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 44 25 36.23 32 0 0.00 LRRC15 131578 genome.wustl.edu 37 3 194080554 194080554 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 194080554 194080554 C T SNP LRRC15 ENST00000439944 human ensembl 70_37 -1 known missense c.1237 p.G413S 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 23 5 17.86 12 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25435767 25435767 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 25435767 25435767 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel silent c.306 p.D102 0.981 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 34 11 24.44 27 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25452453 25452454 + RNA INS - - T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 25452453 25452454 - T INS LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 33 4 10.81 39 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25452453 25452454 + RNA INS - - T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 25452453 25452454 - T INS LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 28 5 15.15 35 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25452491 25452491 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 25452491 25452491 C T SNP LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC16A HGNC ENSG00000079691 16 11 40.74 37 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25479389 25479389 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 6 25479389 25479389 C G SNP LRRC16A ENST00000377969 human ensembl 70_37 +1 known missense c.445 p.L149V 0.003 NULL NULL - no_errors LRRC16A HGNC ENSG00000079691 89 14 13.59 80 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25551207 25551207 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 25551207 25551207 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel nonsense c.2398 p.R800* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 49 16 24.62 51 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25606388 25606388 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 25606388 25606388 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel missense c.3734 p.S1245F 0.697 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 19 7 26.92 25 0 0.00 LRRC16A 55604 genome.wustl.edu 37 6 25620363 25620363 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25620363 25620363 C A SNP LRRC16A ENST00000476458 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRRC16A HGNC ENSG00000079691 14 11 44.00 19 0 0.00 LRRC16B 90668 genome.wustl.edu 37 14 24522998 24522998 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24522998 24522998 G C SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.121 p.E41Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 24 9 27.27 53 0 0.00 LRRC16B 90668 genome.wustl.edu 37 14 24524340 24524340 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24524340 24524340 C A SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.526 p.Q176K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 15 19 55.88 31 0 0.00 LRRC16B 90668 genome.wustl.edu 37 14 24525915 24525915 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 24525915 24525915 G C SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.950 p.R317P 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 28 9 24.32 58 0 0.00 LRRC16B 90668 genome.wustl.edu 37 14 24526137 24526137 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24526137 24526137 C T SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known silent c.966 p.L322 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 50 34 40.48 60 0 0.00 LRRC17 10234 genome.wustl.edu 37 7 102553460 102553460 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 102553460 102553460 G A SNP LRRC17 ENST00000498487 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors LRRC17 HGNC ENSG00000128606 6 4 40.00 12 0 0.00 LRRC18 474354 genome.wustl.edu 37 10 50121493 50121493 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 50121493 50121493 G T SNP LRRC18 ENST00000374160 human ensembl 70_37 -1 known silent c.708 p.I236 0.142 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 29 4 12.12 40 0 0.00 LRRC19 64922 genome.wustl.edu 37 9 26995626 26995626 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 26995626 26995626 C T SNP LRRC19 ENST00000380055 human ensembl 70_37 -1 known missense c.1006 p.E336K 0.904 NULL smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 32 5 13.51 38 0 0.00 LRRC20 55222 genome.wustl.edu 37 10 72100450 72100450 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 72100450 72100450 C T SNP LRRC20 ENST00000355790 human ensembl 70_37 -1 known missense c.91 p.E31K 0.994 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC20 HGNC ENSG00000172731 53 10 15.87 77 0 0.00 LRRC23 10233 genome.wustl.edu 37 12 7016621 7016621 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7016621 7016621 G A SNP LRRC23 ENST00000433346 human ensembl 70_37 +1 putative nonsense c.633 p.W211* 0.025 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 43 15 25.86 53 0 0.00 LRRC23 10233 genome.wustl.edu 37 12 7019143 7019143 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 7019143 7019143 G C SNP LRRC23 ENST00000007969 human ensembl 70_37 +1 known silent c.711 p.L237 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 62 12 16.22 57 0 0.00 LRRC23 10233 genome.wustl.edu 37 12 7022060 7022060 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 7022060 7022060 G A SNP LRRC23 ENST00000007969 human ensembl 70_37 +1 known missense c.925 p.E309K 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 36 8 18.18 52 0 0.00 LRRC23 10233 genome.wustl.edu 37 12 7023336 7023336 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 7023336 7023336 G A SNP LRRC23 ENST00000472633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC23 HGNC ENSG00000010626 4 4 50.00 8 0 0.00 LRRC24 441381 genome.wustl.edu 37 8 145747964 145747964 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 145747964 145747964 G C SNP LRRC24 ENST00000529415 human ensembl 70_37 -1 known silent c.1437 p.L479 0.474 NULL pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC24 HGNC ENSG00000254402 22 17 43.59 24 0 0.00 LRRC24 441381 genome.wustl.edu 37 8 145748083 145748083 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 145748083 145748083 C T SNP LRRC24 ENST00000529415 human ensembl 70_37 -1 known missense c.1318 p.G440R 0.981 NULL pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC24 HGNC ENSG00000254402 5 4 44.44 8 0 0.00 LRRC25 126364 genome.wustl.edu 37 19 18507683 18507683 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18507683 18507683 C T SNP LRRC25 ENST00000339007 human ensembl 70_37 -1 known missense c.91 p.D31N 0.000 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 28 8 21.62 23 0 0.00 LRRC27 80313 genome.wustl.edu 37 10 134188813 134188813 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 134188813 134188813 C T SNP LRRC27 ENST00000462656 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC27 HGNC ENSG00000148814 13 8 38.10 18 0 0.00 LRRC27 80313 genome.wustl.edu 37 10 134189077 134189077 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 134189077 134189077 C T SNP LRRC27 ENST00000475747 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC27 HGNC ENSG00000148814 27 13 32.50 34 0 0.00 LRRC29 26231 genome.wustl.edu 37 16 67242232 67242232 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 67242232 67242232 C T SNP LRRC29 ENST00000341546 human ensembl 70_37 -1 known missense c.268 p.D90N 0.998 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors LRRC29 HGNC ENSG00000125122 28 11 28.21 54 0 0.00 LRRC29 26231 genome.wustl.edu 37 16 67260935 67260935 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67260935 67260935 G T SNP LRRC29 ENST00000485549 human ensembl 70_37 -1 putative rna NULL NULL 0.051 - - - no_errors LRRC29 HGNC ENSG00000125122 18 13 41.94 50 0 0.00 LRRC3 81543 genome.wustl.edu 37 21 45876948 45876948 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 45876948 45876948 C T SNP LRRC3 ENST00000291592 human ensembl 70_37 +1 known missense c.421 p.R141C 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 18 8 30.77 32 0 0.00 LRRC30 339291 genome.wustl.edu 37 18 7231199 7231199 + Silent SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 18 7231199 7231199 G A SNP LRRC30 ENST00000383467 human ensembl 70_37 +1 known silent c.63 p.T21 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 31 4 11.43 51 0 0.00 LRRC31 79782 genome.wustl.edu 37 3 169566073 169566073 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 169566073 169566073 C T SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.1162 p.E388K 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 54 13 19.40 57 0 0.00 LRRC31 79782 genome.wustl.edu 37 3 169571431 169571431 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 169571431 169571431 G A SNP LRRC31 ENST00000397805 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC31 HGNC ENSG00000114248 66 18 21.43 66 0 0.00 LRRC31 79782 genome.wustl.edu 37 3 169578463 169578463 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 169578463 169578463 C A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.373 p.G125C 0.986 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 49 6 10.91 65 0 0.00 LRRC31 79782 genome.wustl.edu 37 3 169579586 169579586 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 169579586 169579586 G A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.191 p.S64L 0.016 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 174 44 20.18 258 1 0.39 LRRC31 79782 genome.wustl.edu 37 3 169587429 169587429 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 169587429 169587429 G C SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known nonsense c.167 p.S56* 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 74 19 20.43 104 0 0.00 LRRC31 79782 genome.wustl.edu 37 3 169587570 169587570 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169587570 169587570 G A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.26 p.S9F 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 73 24 24.74 44 0 0.00 LRRC32 2615 genome.wustl.edu 37 11 76368683 76368683 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76368683 76368683 C G SNP LRRC32 ENST00000464145 human ensembl 70_37 -1 putative rna NULL NULL 0.918 - - - no_errors LRRC32 HGNC ENSG00000137507 11 12 52.17 12 0 0.00 LRRC32 2615 genome.wustl.edu 37 11 76371754 76371754 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 76371754 76371754 C G SNP LRRC32 ENST00000260061 human ensembl 70_37 -1 known missense c.883 p.E295Q 0.707 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 45 21 31.82 75 0 0.00 NRROS 375387 genome.wustl.edu 37 3 196386861 196386861 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196386861 196386861 G A SNP LRRC33 ENST00000328557 human ensembl 70_37 +1 known missense c.347 p.C116Y 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC ENSG00000174004 87 19 17.92 113 0 0.00 LRRC34 151827 genome.wustl.edu 37 3 169511578 169511578 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 169511578 169511578 C T SNP LRRC34 ENST00000446859 human ensembl 70_37 -1 known missense c.1240 p.D414N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 47 7 12.96 48 0 0.00 LRRC34 151827 genome.wustl.edu 37 3 169514687 169514687 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 169514687 169514687 C T SNP LRRC34 ENST00000446859 human ensembl 70_37 -1 known missense c.754 p.E252K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 27 5 15.62 15 0 0.00 LRRC36 55282 genome.wustl.edu 37 16 67405106 67405106 + Nonsense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 16 67405106 67405106 G T SNP LRRC36 ENST00000541146 human ensembl 70_37 +1 known nonsense c.28 p.E10* 0.645 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 36 9 20.00 35 0 0.00 LRRC36 55282 genome.wustl.edu 37 16 67410677 67410677 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 67410677 67410677 C T SNP LRRC36 ENST00000329956 human ensembl 70_37 +1 known nonsense c.1708 p.Q570* 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 20 14 41.18 50 0 0.00 LRRC37A 9884 genome.wustl.edu 37 17 44374710 44374710 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 44374710 44374710 A G SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known silent c.2211 p.P737 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 92 11 10.68 128 1 0.78 LRRC37A 9884 genome.wustl.edu 37 17 44374957 44374957 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 44374957 44374957 G C SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known missense c.2458 p.E820Q 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 11 5 31.25 15 0 0.00 LRRC37A 9884 genome.wustl.edu 37 17 44380067 44380067 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 44380067 44380067 C T SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known silent c.2745 p.L915 0.715 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 6 15 71.43 16 0 0.00 LRRC37A 9884 genome.wustl.edu 37 17 44409004 44409004 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 44409004 44409004 T C SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known missense c.4361 p.L1454P 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 2 2 50.00 10 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37186498 37186498 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 37186498 37186498 C T SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 17 6 26.09 39 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37187378 37187378 + RNA SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 37187378 37187378 C A SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 26 20 43.48 31 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37187556 37187556 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 37187556 37187556 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC37A11P HGNC ENSG00000214553 86 30 25.86 105 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37187642 37187642 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 37187642 37187642 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 92 29 23.97 115 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37188200 37188200 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 37188200 37188200 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LRRC37A11P HGNC ENSG00000214553 105 42 28.38 113 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37188224 37188224 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37188224 37188224 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.108 - - - no_errors LRRC37A11P HGNC ENSG00000214553 62 52 45.61 141 0 0.00 LRRC37A11P 342666 genome.wustl.edu 37 17 37200751 37200751 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 37200751 37200751 T C SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC37A11P HGNC ENSG00000214553 32 27 45.76 29 0 0.00 LRRC37A16P 651250 genome.wustl.edu 37 17 66137465 66137465 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 66137465 66137465 C T SNP LRRC37A16P ENST00000590019 human ensembl 70_37 -1 known rna NULL NULL 0.124 - - - no_errors LRRC37A16P HGNC ENSG00000267023 16 8 33.33 33 0 0.00 LRRC37A2 474170 genome.wustl.edu 37 17 44623731 44623731 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 44623731 44623731 C T SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.3164 p.T1055I 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 11 6 35.29 8 0 0.00 LRRC37A2 474170 genome.wustl.edu 37 17 44626584 44626584 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 44626584 44626584 C T SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.4079 p.S1360L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 326 50 13.30 414 1 0.24 LRRC37A2 474170 genome.wustl.edu 37 17 44626600 44626600 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 44626600 44626600 G A SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known silent c.4095 p.L1365 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 69 14 16.87 127 0 0.00 LRRC37A2 474170 genome.wustl.edu 37 17 44630796 44630796 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44630796 44630796 G A SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.4840 p.D1614N 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 80 39 32.77 120 0 0.00 LRRC37A2 474170 genome.wustl.edu 37 17 44632680 44632680 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 44632680 44632680 C G SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known silent c.4944 p.L1648 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 70 31 30.69 118 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62856739 62856739 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 62856739 62856739 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3525 p.Q1175H 0.015 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 234 40 14.60 133 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62856867 62856867 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 62856867 62856867 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3397 p.D1133H 0.034 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 55 31 36.05 106 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62859084 62859084 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 62859084 62859084 C T SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3106 p.E1036K 0.964 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 190 53 21.72 205 1 0.48 LRRC37A3 374819 genome.wustl.edu 37 17 62891142 62891142 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62891142 62891142 G A SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.2234 p.S745L 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 124 79 38.92 141 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62892159 62892159 + Missense_Mutation SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 62892159 62892159 G T SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.1217 p.A406D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 70 9 11.39 47 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62892159 62892159 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 62892159 62892159 G T SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.1217 p.A406D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 13 6 31.58 21 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62892841 62892841 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62892841 62892841 T C SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.535 p.T179A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 58 16 21.62 88 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62892842 62892842 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 62892842 62892842 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.534 p.Q178H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 321 50 13.48 415 0 0.00 LRRC37A3 374819 genome.wustl.edu 37 17 62892990 62892990 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 62892990 62892990 G A SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.386 p.S129L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 66 24 26.67 118 0 0.00 LRRC37A4P 55073 genome.wustl.edu 37 17 43585779 43585779 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 43585779 43585779 G A SNP LRRC37A4P ENST00000579913 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors LRRC37A4P HGNC ENSG00000214425 80 55 40.44 121 0 0.00 LRRC37A6P 387646 genome.wustl.edu 37 10 27537598 27537598 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 27537598 27537598 C T SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.081 - - - no_errors LRRC37A6P HGNC ENSG00000230445 82 30 26.79 102 0 0.00 LRRC37A6P 387646 genome.wustl.edu 37 10 27538702 27538702 + RNA SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 27538702 27538702 T C SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LRRC37A6P HGNC ENSG00000230445 76 56 42.42 275 1 0.36 LRRC37A6P 387646 genome.wustl.edu 37 10 27539146 27539146 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 27539146 27539146 G A SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC37A6P HGNC ENSG00000230445 90 49 35.25 167 0 0.00 LRRC37A6P 387646 genome.wustl.edu 37 10 27539436 27539436 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27539436 27539436 G T SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.668 - - - no_errors LRRC37A6P HGNC ENSG00000230445 36 9 20.00 35 0 0.00 LRRC37A6P 387646 genome.wustl.edu 37 10 27540266 27540266 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 27540266 27540266 G C SNP LRRC37A6P ENST00000574795 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors LRRC37A6P HGNC ENSG00000230445 33 7 17.50 42 0 0.00 LRRC37A6P 387646 genome.wustl.edu 37 10 27540637 27540637 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27540637 27540637 G T SNP LRRC37A6P ENST00000574795 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors LRRC37A6P HGNC ENSG00000230445 25 12 32.43 64 0 0.00 LRRC37B 114659 genome.wustl.edu 37 17 30348320 30348320 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 30348320 30348320 C T SNP LRRC37B ENST00000341671 human ensembl 70_37 +1 known missense c.155 p.S52F 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 30 11 26.83 54 0 0.00 LRRC37B 114659 genome.wustl.edu 37 17 30354813 30354813 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 30354813 30354813 G A SNP LRRC37B ENST00000341671 human ensembl 70_37 +1 known missense c.1777 p.E593K 0.962 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 152 57 27.27 176 0 0.00 LRRC38 126755 genome.wustl.edu 37 1 13802519 13802519 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 13802519 13802519 G A SNP LRRC38 ENST00000376085 human ensembl 70_37 -1 known missense c.680 p.S227F 0.103 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 28 15 34.88 60 0 0.00 LRRC38 126755 genome.wustl.edu 37 1 13839596 13839596 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 13839596 13839596 G A SNP LRRC38 ENST00000376085 human ensembl 70_37 -1 known missense c.493 p.R165C 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 48 8 14.29 65 0 0.00 LRRC39 127495 genome.wustl.edu 37 1 100626100 100626100 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 100626100 100626100 T C SNP LRRC39 ENST00000370138 human ensembl 70_37 -1 known silent c.141 p.V47 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC ENSG00000122477 46 10 17.86 116 0 0.00 LRRC3C 100505591 genome.wustl.edu 37 17 38100984 38100984 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 38100984 38100984 C G SNP LRRC3C ENST00000377924 human ensembl 70_37 +1 known silent c.825 p.V275 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3C HGNC ENSG00000204913 19 16 45.71 43 0 0.00 LRRC4 64101 genome.wustl.edu 37 7 127669932 127669932 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 127669932 127669932 G A SNP LRRC4 ENST00000249363 human ensembl 70_37 -1 known silent c.762 p.V254 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 41 5 10.87 43 0 0.00 LRRC4 64101 genome.wustl.edu 37 7 127670470 127670470 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 127670470 127670470 G C SNP LRRC4 ENST00000249363 human ensembl 70_37 -1 known missense c.224 p.S75W 1.000 smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 34 21 38.18 59 0 0.00 LRRC40 55631 genome.wustl.edu 37 1 70625092 70625092 + Missense_Mutation SNP T T C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 70625092 70625092 T C SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.1141 p.T381A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 59 9 13.24 65 0 0.00 LRRC40 55631 genome.wustl.edu 37 1 70641557 70641557 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 70641557 70641557 G A SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.913 p.P305S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 70 42 37.50 112 0 0.00 LRRC40 55631 genome.wustl.edu 37 1 70652990 70652990 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70652990 70652990 G A SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.365 p.S122F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 28 19 40.43 58 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46726876 46726877 + RNA INS - - T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 46726876 46726877 - T INS LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 36 5 12.20 37 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 22 5 18.52 24 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 31 4 11.43 27 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46745946 46745946 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 46745946 46745946 C G SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known silent c.1938 p.L646 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 49 36 42.35 79 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46746151 46746151 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 46746151 46746151 G A SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.1838 p.S613L 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 105 66 38.37 219 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46746968 46746968 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 46746968 46746968 C T SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.1585 p.D529N 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 41 11 21.15 28 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46750807 46750807 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46750807 46750807 C T SNP LRRC41 ENST00000498402 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC41 HGNC ENSG00000132128 7 5 41.67 21 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46751848 46751848 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 46751848 46751848 G A SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known silent c.681 p.V227 0.488 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 20 12 37.50 34 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46752035 46752035 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 46752035 46752035 C T SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.494 p.R165Q 0.996 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 25 12 32.43 18 0 0.00 LRRC41 10489 genome.wustl.edu 37 1 46764081 46764081 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 46764081 46764081 C T SNP LRRC41 ENST00000469150 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 17 6 26.09 18 0 0.00 LRRC42 115353 genome.wustl.edu 37 1 54417789 54417789 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 54417789 54417789 G A SNP LRRC42 ENST00000319223 human ensembl 70_37 +1 known silent c.117 p.Q39 0.985 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 41 26 38.81 62 0 0.00 LRRC42 115353 genome.wustl.edu 37 1 54428065 54428065 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 54428065 54428065 G A SNP LRRC42 ENST00000319223 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 34 35 50.72 53 0 0.00 LRRC43 254050 genome.wustl.edu 37 12 122677437 122677437 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 122677437 122677437 C G SNP LRRC43 ENST00000339777 human ensembl 70_37 +1 known missense c.1235 p.S412W 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 34 11 24.44 53 0 0.00 LRRC43 254050 genome.wustl.edu 37 12 122685138 122685140 + In_Frame_Del DEL AAA AAA - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 122685138 122685140 AAA - DEL LRRC43 ENST00000339777 human ensembl 70_37 +1 known in_frame_del c.1551_1553 p.K518in_frame_del 0.115:0.128:0.123 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 54 9 14.29 45 0 0.00 LRRC43 254050 genome.wustl.edu 37 12 122685407 122685407 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 122685407 122685407 G A SNP LRRC43 ENST00000339777 human ensembl 70_37 +1 known missense c.1735 p.E579K 0.999 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 53 37 41.11 61 0 0.00 LRRC43 254050 genome.wustl.edu 37 12 122687969 122687969 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 122687969 122687969 C G SNP LRRC43 ENST00000339777 human ensembl 70_37 +1 known missense c.1951 p.L651V 0.002 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 71 21 22.83 118 0 0.00 LRRC45 201255 genome.wustl.edu 37 17 79988571 79988571 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 79988571 79988571 G C SNP LRRC45 ENST00000306688 human ensembl 70_37 +1 known missense c.1903 p.E635Q 0.989 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 3 2 40.00 9 0 0.00 LRRC47 57470 genome.wustl.edu 37 1 3703465 3703465 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 3703465 3703465 C T SNP LRRC47 ENST00000378251 human ensembl 70_37 -1 known missense c.1025 p.R342Q 0.025 smart_B3/B4_tRNA-bd pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 15 3 16.67 12 0 0.00 LRRC47 57470 genome.wustl.edu 37 1 3703508 3703508 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 3703508 3703508 C T SNP LRRC47 ENST00000378251 human ensembl 70_37 -1 known missense c.982 p.E328K 0.086 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 38 24 38.71 64 0 0.00 LRRC48 83450 genome.wustl.edu 37 17 17891275 17891275 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 17891275 17891275 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.307 p.E103K 0.986 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 32 17 34.69 58 0 0.00 LRRC48 83450 genome.wustl.edu 37 17 17896144 17896144 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17896144 17896144 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known silent c.510 p.E170 0.246 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 45 7 13.46 60 0 0.00 LRRC48 83450 genome.wustl.edu 37 17 17896148 17896148 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17896148 17896148 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.514 p.E172K 0.997 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 45 8 15.09 60 0 0.00 LRRC48 83450 genome.wustl.edu 37 17 17919381 17919381 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 17919381 17919381 T C SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.1330 p.F444L 0.997 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 54 17 23.94 102 0 0.00 LRRC49 54839 genome.wustl.edu 37 15 71211448 71211448 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 71211448 71211448 G C SNP LRRC49 ENST00000260382 human ensembl 70_37 +1 known missense c.627 p.R209S 0.981 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 21 8 27.59 40 0 0.00 LRRC49 54839 genome.wustl.edu 37 15 71305151 71305151 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71305151 71305151 G C SNP LRRC49 ENST00000260382 human ensembl 70_37 +1 known missense c.1602 p.Q534H 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 31 11 26.19 43 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51020885 51020885 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 51020885 51020885 G T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known missense c.2085 p.H695Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 9 9 50.00 32 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51021572 51021572 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 51021572 51021572 G A SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.1398 p.S466 0.016 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 26 13 33.33 45 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51022460 51022460 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 51022460 51022460 G A SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.510 p.I170 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 64 15 18.99 68 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51022613 51022613 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51022613 51022613 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.357 p.K119 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 24 43 64.18 65 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51022613 51022613 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 51022613 51022613 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.357 p.K119 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 48 6 11.11 52 0 0.00 LRRC4B 94030 genome.wustl.edu 37 19 51022619 51022619 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51022619 51022619 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.351 p.L117 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 27 40 59.70 63 0 0.00 LRRC4C 57689 genome.wustl.edu 37 11 40136562 40136562 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 40136562 40136562 C T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known missense c.1281 p.M427I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC ENSG00000148948 25 25 50.00 54 0 0.00 LRRC4C 57689 genome.wustl.edu 37 11 40136938 40136938 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 40136938 40136938 G T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known missense c.905 p.P302H 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC ENSG00000148948 32 4 11.11 33 0 0.00 LRRC4C 57689 genome.wustl.edu 37 11 40137255 40137255 + Silent SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 40137255 40137255 C A SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC ENSG00000148948 9 6 40.00 25 0 0.00 LRRC4C 57689 genome.wustl.edu 37 11 40137708 40137708 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 40137708 40137708 C T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known silent c.135 p.Q45 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC ENSG00000148948 12 8 40.00 21 0 0.00 LRRC52 440699 genome.wustl.edu 37 1 165514074 165514074 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 165514074 165514074 C T SNP LRRC52 ENST00000294818 human ensembl 70_37 +1 known silent c.541 p.L181 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 316 54 14.59 268 0 0.00 LRRC53 100144878 genome.wustl.edu 37 1 74936335 74936335 + Nonsense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 74936335 74936335 C A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known nonsense c.2971 p.E991* 0.005 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 32 4 11.11 53 0 0.00 LRRC53 100144878 genome.wustl.edu 37 1 74945841 74945841 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 74945841 74945841 G A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known silent c.900 p.F300 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 16 7 30.43 31 0 0.00 LRRC53 100144878 genome.wustl.edu 37 1 74945903 74945903 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 74945903 74945903 G A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known silent c.838 p.L280 0.176 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 31 7 18.42 69 0 0.00 LRRC53 100144878 genome.wustl.edu 37 1 74946275 74946275 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 74946275 74946275 G T SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known missense c.466 p.L156I 0.820 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 13 10 43.48 13 0 0.00 LRRC55 219527 genome.wustl.edu 37 11 56949718 56949718 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 56949718 56949718 C A SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.351 p.H117Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 109 41 27.33 68 0 0.00 LRRC55 219527 genome.wustl.edu 37 11 56949719 56949719 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 56949719 56949719 A G SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.352 p.N118D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 110 39 26.17 71 0 0.00 LRRC55 219527 genome.wustl.edu 37 11 56949990 56949990 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 56949990 56949990 G T SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.623 p.R208L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 31 5 13.89 24 0 0.00 LRRC56 115399 genome.wustl.edu 37 11 544754 544754 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 544754 544754 G A SNP LRRC56 ENST00000270115 human ensembl 70_37 +1 known silent c.300 p.L100 0.997 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 14 8 36.36 8 0 0.00 LRRC58 116064 genome.wustl.edu 37 3 120067653 120067653 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 120067653 120067653 C G SNP LRRC58 ENST00000295628 human ensembl 70_37 -1 known missense c.438 p.Q146H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC58 HGNC ENSG00000163428 15 6 28.57 14 0 0.00 LRRC59 55379 genome.wustl.edu 37 17 48474547 48474547 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48474547 48474547 G A SNP LRRC59 ENST00000576448 human ensembl 70_37 -1 putative silent c.132 p.G44 0.917 NULL NULL - no_errors LRRC59 HGNC ENSG00000108829 41 25 37.88 54 0 0.00 LRRC63 220416 genome.wustl.edu 37 13 46802139 46802139 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 13 46802139 46802139 C T SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known missense c.578 p.S193L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 20 4 16.67 36 0 0.00 LRRC63 220416 genome.wustl.edu 37 13 46824540 46824540 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 46824540 46824540 C T SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known silent c.1140 p.I380 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 19 15 42.86 51 0 0.00 LRRC63 220416 genome.wustl.edu 37 13 46824562 46824562 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 46824562 46824562 C G SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known missense c.1162 p.Q388E 0.026 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 15 13 46.43 45 0 0.00 LRRC66 339977 genome.wustl.edu 37 4 52861188 52861188 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 52861188 52861188 G C SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known nonsense c.2000 p.S667* 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 51 7 12.07 47 0 0.00 LRRC66 339977 genome.wustl.edu 37 4 52861239 52861239 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 52861239 52861239 G A SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known missense c.1949 p.S650L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 26 13 33.33 31 0 0.00 LRRC66 339977 genome.wustl.edu 37 4 52861485 52861485 + Nonsense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 52861485 52861485 G C SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known nonsense c.1703 p.S568* 0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 12 5 29.41 21 0 0.00 LRRC69 100130742 genome.wustl.edu 37 8 92139388 92139388 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 92139388 92139388 G T SNP LRRC69 ENST00000448384 human ensembl 70_37 +1 novel missense c.383 p.R128I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC ENSG00000214954 19 3 13.64 28 0 0.00 LRRC69 100130742 genome.wustl.edu 37 8 92145429 92145429 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 92145429 92145429 C T SNP LRRC69 ENST00000448384 human ensembl 70_37 +1 novel nonsense c.475 p.Q159* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC ENSG00000214954 30 43 58.90 54 0 0.00 LRRC69 100130742 genome.wustl.edu 37 8 92213000 92213000 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92213000 92213000 C T SNP LRRC69 ENST00000343709 human ensembl 70_37 +1 known nonsense c.445 p.R149* 0.029 NULL NULL - no_errors LRRC69 HGNC ENSG00000214954 37 21 36.21 84 0 0.00 LRRC7 57554 genome.wustl.edu 37 1 70504040 70504040 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 70504040 70504040 C T SNP LRRC7 ENST00000035383 human ensembl 70_37 +1 known missense c.2419 p.R807C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 21 8 27.59 35 0 0.00 LRRC7 57554 genome.wustl.edu 37 1 70505043 70505043 + Missense_Mutation SNP A A T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 70505043 70505043 A T SNP LRRC7 ENST00000035383 human ensembl 70_37 +1 known missense c.3422 p.D1141V 0.871 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 165 21 11.29 192 0 0.00 LRRC70 100130733 genome.wustl.edu 37 5 61876409 61876409 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 61876409 61876409 A T SNP LRRC70 ENST00000334994 human ensembl 70_37 +1 known missense c.1144 p.N382Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC70 HGNC ENSG00000186105 38 9 19.15 56 0 0.00 LRRC71 149499 genome.wustl.edu 37 1 156897387 156897387 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 156897387 156897387 C G SNP LRRC71 ENST00000337428 human ensembl 70_37 +1 known silent c.762 p.L254 0.688 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 22 5 18.52 35 0 0.00 LRRC71 149499 genome.wustl.edu 37 1 156901741 156901741 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156901741 156901741 C T SNP LRRC71 ENST00000337428 human ensembl 70_37 +1 known missense c.1363 p.L455F 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 43 20 31.75 96 0 0.00 LRRC72 100506049 genome.wustl.edu 37 7 16606004 16606004 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 16606004 16606004 G A SNP LRRC72 ENST00000401542 human ensembl 70_37 +1 novel missense c.494 p.G165E 0.050 NULL NULL - no_errors LRRC72 HGNC ENSG00000205858 24 17 41.46 40 0 0.00 LRRC8A 56262 genome.wustl.edu 37 9 131670859 131670859 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 131670859 131670859 G T SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known missense c.1416 p.K472N 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 20 3 13.04 12 0 0.00 LRRC8A 56262 genome.wustl.edu 37 9 131670871 131670871 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131670871 131670871 C G SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1428 p.L476 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 15 5 25.00 19 0 0.00 LRRC8A 56262 genome.wustl.edu 37 9 131671153 131671153 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131671153 131671153 G A SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1710 p.Q570 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 22 21 48.84 43 0 0.00 LRRC8A 56262 genome.wustl.edu 37 9 131671153 131671153 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 131671153 131671153 G A SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1710 p.Q570 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 39 5 11.36 57 0 0.00 LRRC8B 23507 genome.wustl.edu 37 1 90048796 90048796 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 90048796 90048796 C T SNP LRRC8B ENST00000330947 human ensembl 70_37 +1 known missense c.587 p.S196L 0.977 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 69 34 32.69 94 0 0.00 LRRC8B 23507 genome.wustl.edu 37 1 90049129 90049129 + Missense_Mutation SNP C C G TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 90049129 90049129 C G SNP LRRC8B ENST00000330947 human ensembl 70_37 +1 known missense c.920 p.S307C 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 201 84 29.37 297 0 0.00 LRRC8B 23507 genome.wustl.edu 37 1 90058471 90058471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 90058471 90058471 G A SNP LRRC8B ENST00000330947 human ensembl 70_37 +1 known missense c.2281 p.E761K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 18 8 30.77 42 0 0.00 LRRC8C 84230 genome.wustl.edu 37 1 90152110 90152110 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 90152110 90152110 G C SNP LRRC8C ENST00000370454 human ensembl 70_37 +1 known silent c.78 p.V26 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 47 6 11.11 33 0 0.00 LRRC8D 55144 genome.wustl.edu 37 1 90400119 90400119 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 90400119 90400119 G A SNP LRRC8D ENST00000337338 human ensembl 70_37 +1 known missense c.1492 p.E498K 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 29 13 30.95 57 0 0.00 LRRC8D 55144 genome.wustl.edu 37 1 90400768 90400768 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 90400768 90400768 C T SNP LRRC8D ENST00000337338 human ensembl 70_37 +1 known missense c.2141 p.S714F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 11 2 15.38 17 0 0.00 LRRC8E 80131 genome.wustl.edu 37 19 7963642 7963642 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 7963642 7963642 G A SNP LRRC8E ENST00000306708 human ensembl 70_37 +1 known missense c.235 p.E79K 0.015 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 16 20 55.56 68 0 0.00 LRRC8E 80131 genome.wustl.edu 37 19 7964444 7964444 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7964444 7964444 C T SNP LRRC8E ENST00000306708 human ensembl 70_37 +1 known missense c.1037 p.S346F 0.070 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 20 11 35.48 42 0 0.00 LRRC9 341883 genome.wustl.edu 37 14 60411327 60411327 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 14 60411327 60411327 A G SNP LRRC9 ENST00000254271 human ensembl 70_37 +1 known missense c.747 p.I249M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 14 8 36.36 32 0 0.00 LRRC9 341883 genome.wustl.edu 37 14 60426611 60426611 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 60426611 60426611 G A SNP LRRC9 ENST00000254271 human ensembl 70_37 +1 known missense c.958 p.D320N 0.006 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 14 8 36.36 30 0 0.00 LRRCC1 85444 genome.wustl.edu 37 8 86049720 86049720 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 86049720 86049720 G A SNP LRRCC1 ENST00000360375 human ensembl 70_37 +1 known missense c.2351 p.R784H 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 40 10 20.00 47 0 0.00 LRRD1 401387 genome.wustl.edu 37 7 91793610 91793610 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91793610 91793610 G C SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.907 p.P303A 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 64 18 21.95 50 0 0.00 LRRD1 401387 genome.wustl.edu 37 7 91794192 91794192 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 91794192 91794192 C T SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.325 p.E109K 0.036 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 21 13 38.24 35 0 0.00 LRRD1 401387 genome.wustl.edu 37 7 91794221 91794221 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 91794221 91794221 C A SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.296 p.S99I 0.000 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 23 7 23.33 37 0 0.00 LRRD1 401387 genome.wustl.edu 37 7 91794375 91794375 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 91794375 91794375 C T SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.142 p.E48K 0.003 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 23 23 50.00 56 0 0.00 LRRD1 401387 genome.wustl.edu 37 7 91794384 91794384 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91794384 91794384 C T SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.133 p.D45N 0.000 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 45 20 30.77 44 0 0.00 LRRFIP1 9208 genome.wustl.edu 37 2 238657916 238657916 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 238657916 238657916 C T SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known silent c.360 p.S120 0.159 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 37 5 11.90 42 0 0.00 LRRFIP1 9208 genome.wustl.edu 37 2 238659879 238659879 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238659879 238659879 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.448 p.E150Q 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 7 11 61.11 24 0 0.00 LRRFIP1 9208 genome.wustl.edu 37 2 238662113 238662113 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 238662113 238662113 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.645 p.E215D 0.998 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 34 5 12.82 45 0 0.00 LRRFIP1 9208 genome.wustl.edu 37 2 238671302 238671302 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238671302 238671302 G C SNP LRRFIP1 ENST00000392000 human ensembl 70_37 +1 known missense c.946 p.E316Q 0.956 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 16 31 65.96 66 0 0.00 LRRFIP1 9208 genome.wustl.edu 37 2 238680788 238680788 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 238680788 238680788 C G SNP LRRFIP1 ENST00000308482 human ensembl 70_37 +1 putative missense c.1574 p.S525C 0.056 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin - no_errors LRRFIP1 HGNC ENSG00000124831 20 12 37.50 53 0 0.00 LRRFIP2 9209 genome.wustl.edu 37 3 37095399 37095399 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 37095399 37095399 C T SNP LRRFIP2 ENST00000336686 human ensembl 70_37 -1 known silent c.2109 p.L703 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_HLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 22 4 15.38 39 0 0.00 LRRIQ1 84125 genome.wustl.edu 37 12 85432072 85432072 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 85432072 85432072 G C SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.118 p.D40H 0.354 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 19 10 34.48 30 0 0.00 LRRIQ1 84125 genome.wustl.edu 37 12 85517847 85517847 + Splice_Site SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 85517847 85517847 G C SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known splice_site c.3558-1 e16-1 0.866 - - - no_errors LRRIQ1 HGNC ENSG00000133640 28 7 20.00 45 0 0.00 LRRIQ1 84125 genome.wustl.edu 37 12 85518053 85518053 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 85518053 85518053 G A SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.3763 p.E1255K 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 26 12 31.58 30 0 0.00 LRRIQ1 84125 genome.wustl.edu 37 12 85546833 85546833 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 85546833 85546833 C G SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known nonsense c.4451 p.S1484* 0.875 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 81 21 20.59 93 0 0.00 LRRIQ1 84125 genome.wustl.edu 37 12 85547849 85547849 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 85547849 85547849 C T SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.4697 p.S1566L 0.991 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 40 28 41.18 66 0 0.00 LRRIQ3 127255 genome.wustl.edu 37 1 74492633 74492633 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 74492633 74492633 C A SNP LRRIQ3 ENST00000354431 human ensembl 70_37 -1 known missense c.1739 p.R580I 0.685 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 9 12 57.14 33 0 0.00 LRRIQ4 344657 genome.wustl.edu 37 3 169540456 169540456 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 169540456 169540456 C T SNP LRRIQ4 ENST00000340806 human ensembl 70_37 +1 known silent c.747 p.I249 0.339 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 98 13 11.71 53 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101523744 101523744 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 101523744 101523744 G A SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.273 p.L91 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 38 23 37.70 49 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101561369 101561369 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 101561369 101561369 C T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known missense c.1721 p.S574L 0.659 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 45 14 23.33 67 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101565148 101565148 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 101565148 101565148 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.2208 p.L736 0.966 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 34 16 32.00 46 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101569240 101569240 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 101569240 101569240 C T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.2766 p.L922 0.811 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 84 18 17.65 72 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101589932 101589932 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 101589932 101589932 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known nonsense c.3383 p.S1128* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 29 30 50.85 67 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101597256 101597256 + Splice_Site SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 101597256 101597256 G T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known splice_site c.4527+1 e27+1 1.000 - - - no_errors LRRK1 HGNC ENSG00000154237 12 4 25.00 38 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101598292 101598292 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 101598292 101598292 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known nonsense c.4625 p.S1542* 0.954 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 60 14 18.92 75 0 0.00 LRRK1 79705 genome.wustl.edu 37 15 101606067 101606067 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 15 101606067 101606067 G C SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known missense c.5425 p.E1809Q 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 21 5 19.23 20 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40645343 40645343 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 40645343 40645343 G T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.1178 p.G393V 0.989 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 33 14 29.79 36 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40668470 40668470 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 40668470 40668470 C T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.1742 p.S581F 0.334 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 21 13 38.24 26 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40671955 40671955 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 40671955 40671955 G A SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known silent c.2133 p.V711 0.009 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 11 10 47.62 20 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40699758 40699758 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 40699758 40699758 G C SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.3949 p.D1317H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 25 3 10.71 18 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40715870 40715870 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 40715870 40715870 G A SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.5204 p.R1735Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 19 12 38.71 46 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40717102 40717102 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 40717102 40717102 C T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.5650 p.L1884F 1.000 superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 35 6 14.63 46 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40728939 40728939 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 40728939 40728939 C G SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known silent c.5928 p.L1976 0.038 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 64 35 35.35 118 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40745533 40745533 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 40745533 40745533 G C SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.6574 p.E2192Q 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 46 10 17.86 38 0 0.00 LRRK2 120892 genome.wustl.edu 37 12 40758834 40758834 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 40758834 40758834 A G SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.7372 p.M2458V 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 45 27 37.50 73 0 0.00 LRRN1 57633 genome.wustl.edu 37 3 3886887 3886887 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 3886887 3886887 G C SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.562 p.D188H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 13 4 23.53 47 0 0.00 LRRN1 57633 genome.wustl.edu 37 3 3886968 3886968 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 3886968 3886968 G A SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.643 p.A215T 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 173 57 24.78 131 0 0.00 LRRN1 57633 genome.wustl.edu 37 3 3888399 3888399 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 3888399 3888399 A C SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.2074 p.S692R 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 21 14 38.89 42 0 0.00 LRRN2 10446 genome.wustl.edu 37 1 204587429 204587429 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 204587429 204587429 G A SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known silent c.1692 p.L564 0.913 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 36 9 20.00 42 0 0.00 LRRN2 10446 genome.wustl.edu 37 1 204588128 204588128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 204588128 204588128 G C SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known missense c.993 p.F331L 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 33 8 19.51 28 0 0.00 LRRN2 10446 genome.wustl.edu 37 1 204588748 204588748 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 204588748 204588748 C G SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known missense c.373 p.E125Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 13 8 38.10 19 0 0.00 LRRN4 164312 genome.wustl.edu 37 20 6022388 6022388 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 6022388 6022388 C T SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known silent c.1503 p.Q501 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 40 39 49.37 40 0 0.00 LRRN4 164312 genome.wustl.edu 37 20 6025204 6025204 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 6025204 6025204 C A SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known missense c.983 p.R328I 0.014 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 28 20 40.82 72 0 0.00 LRRN4 164312 genome.wustl.edu 37 20 6031429 6031429 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 6031429 6031429 G A SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known nonsense c.856 p.Q286* 0.963 smart_Leu-rich_rpt_typical-subtyp pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 66 18 21.43 33 0 0.00 LRRN4 164312 genome.wustl.edu 37 20 6033301 6033301 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 6033301 6033301 C T SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known missense c.145 p.E49K 0.171 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 4 4 50.00 9 0 0.00 LRRN4CL 221091 genome.wustl.edu 37 11 62455621 62455621 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 62455621 62455621 G A SNP LRRN4CL ENST00000317449 human ensembl 70_37 -1 known silent c.360 p.D120 0.793 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 16 44 73.33 19 0 0.00 LRRN4CL 221091 genome.wustl.edu 37 11 62455621 62455621 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 62455621 62455621 G A SNP LRRN4CL ENST00000317449 human ensembl 70_37 -1 known silent c.360 p.D120 0.793 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 6 6 46.15 12 0 0.00 LRRTM1 347730 genome.wustl.edu 37 2 80529638 80529638 + Missense_Mutation SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 80529638 80529638 A G SNP LRRTM1 ENST00000295057 human ensembl 70_37 -1 known missense c.1307 p.I436T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 39 16 29.09 73 0 0.00 LRRTM2 26045 genome.wustl.edu 37 5 138210089 138210089 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138210089 138210089 G C SNP LRRTM2 ENST00000274711 human ensembl 70_37 -1 known nonsense c.161 p.S54* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 24 11 31.43 27 0 0.00 LRRTM3 347731 genome.wustl.edu 37 10 68686978 68686978 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 68686978 68686978 G C SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.304 p.E102Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 32 8 20.00 25 0 0.00 LRRTM3 347731 genome.wustl.edu 37 10 68687033 68687033 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 68687033 68687033 G T SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.359 p.R120I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 12 9 42.86 19 0 0.00 LRRTM3 347731 genome.wustl.edu 37 10 68687183 68687183 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 68687183 68687183 G C SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.509 p.R170T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 5 6 54.55 14 0 0.00 LRRTM3 347731 genome.wustl.edu 37 10 68688038 68688038 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 10 68688038 68688038 G A SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.1364 p.R455H 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 14 14 50.00 17 0 0.00 LRRTM4 80059 genome.wustl.edu 37 2 77745633 77745633 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 77745633 77745633 C T SNP LRRTM4 ENST00000409911 human ensembl 70_37 -1 known missense c.1365 p.M455I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 21 8 27.59 47 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130249962 130249962 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 130249962 130249962 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1267 p.E423K 0.910 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 11 20 64.52 34 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130251773 130251773 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 130251773 130251773 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known silent c.1398 p.L466 0.937 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 6 2 25.00 13 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130257502 130257502 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130257502 130257502 G A SNP LRSAM1 ENST00000472592 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRSAM1 HGNC ENSG00000148356 5 8 61.54 9 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 130257620 130257620 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1621 p.E541K 0.999 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 46 24 34.29 35 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130257661 130257661 + Silent SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 9 130257661 130257661 G T SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known silent c.1662 p.R554 0.990 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 12 3 20.00 35 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130259564 130259564 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 130259564 130259564 G C SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1863 p.E621D 0.827 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 62 29 31.87 95 0 0.00 LRSAM1 90678 genome.wustl.edu 37 9 130263375 130263375 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 130263375 130263375 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1999 p.E667K 0.799 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 32 24 42.86 58 0 0.00 LRTM2 654429 genome.wustl.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 1940449 1940449 C T SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.416 p.S139L 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 27 11 28.95 31 0 0.00 LRTM2 654429 genome.wustl.edu 37 12 1940559 1940559 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 1940559 1940559 C G SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.526 p.L176V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 41 20 32.79 66 0 0.00 LRTM2 654429 genome.wustl.edu 37 12 1940559 1940559 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 1940559 1940559 C G SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.526 p.L176V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 54 6 10.00 65 0 0.00 LRTM2 654429 genome.wustl.edu 37 12 1944744 1944744 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 1944744 1944744 A G SNP LRTM2 ENST00000543730 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors LRTM2 HGNC ENSG00000166159 25 3 10.71 55 0 0.00 LRTOMT 220074 genome.wustl.edu 37 11 71807777 71807777 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 71807777 71807777 G A SNP LRTOMT ENST00000447974 human ensembl 70_37 +1 known missense c.446 p.G149E 0.003 NULL NULL - no_errors LRTOMT HGNC ENSG00000184154 47 15 24.19 45 0 0.00 LRTOMT 220074 genome.wustl.edu 37 11 71819761 71819761 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 71819761 71819761 G A SNP LRTOMT ENST00000307198 human ensembl 70_37 +1 known silent c.666 p.L222 0.990 pfam_O-MeTrfase_3 pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC ENSG00000184154 30 11 26.83 31 0 0.00 LRWD1 222229 genome.wustl.edu 37 7 102108530 102108530 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 102108530 102108530 C T SNP LRWD1 ENST00000292616 human ensembl 70_37 +1 known missense c.700 p.R234W 0.149 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 57 15 20.83 65 0 0.00 LRWD1 222229 genome.wustl.edu 37 7 102108823 102108823 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 102108823 102108823 G C SNP LRWD1 ENST00000292616 human ensembl 70_37 +1 known missense c.918 p.E306D 0.922 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 57 8 12.12 100 1 0.99 LSAMP 4045 genome.wustl.edu 37 3 115560717 115560717 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 115560717 115560717 G A SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known silent c.894 p.V298 0.996 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC ENSG00000185565 165 39 19.12 160 1 0.62 LSAMP 4045 genome.wustl.edu 37 3 115560788 115560788 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 115560788 115560788 G T SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known missense c.823 p.L275M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC ENSG00000185565 33 4 10.81 38 0 0.00 LSAMP 4045 genome.wustl.edu 37 3 115560818 115560818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 115560818 115560818 C G SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known missense c.793 p.E265Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC ENSG00000185565 11 7 38.89 38 0 0.00 LSG1 55341 genome.wustl.edu 37 3 194373732 194373732 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 194373732 194373732 G A SNP LSG1 ENST00000265245 human ensembl 70_37 -1 known missense c.899 p.T300M 0.004 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 23 54 70.13 19 0 0.00 LSG1 55341 genome.wustl.edu 37 3 194380810 194380810 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 194380810 194380810 C T SNP LSG1 ENST00000265245 human ensembl 70_37 -1 known missense c.574 p.E192K 0.972 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 48 9 15.79 24 0 0.00 LSG1 55341 genome.wustl.edu 37 3 194392797 194392797 + Missense_Mutation SNP G G C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 194392797 194392797 G C SNP LSG1 ENST00000265245 human ensembl 70_37 -1 known missense c.95 p.S32C 1.000 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 34 5 12.82 35 0 0.00 LSM14A 26065 genome.wustl.edu 37 19 34712417 34712417 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 34712417 34712417 G A SNP LSM14A ENST00000433627 human ensembl 70_37 +1 known missense c.1142 p.R381Q 0.993 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 30 21 41.18 42 0 0.00 LSM14A 26065 genome.wustl.edu 37 19 34717371 34717372 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 34717371 34717372 - A INS LSM14A ENST00000433627 human ensembl 70_37 +1 known splice_site_ins c.1392+2_3 e10+2 1.000:1.000 - - - no_errors LSM14A HGNC ENSG00000257103 22 16 42.11 46 0 0.00 LSM14B 149986 genome.wustl.edu 37 20 60697842 60697842 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 60697842 60697842 C T SNP LSM14B ENST00000253001 human ensembl 70_37 +1 known silent c.120 p.L40 0.998 superfamily_LSM_dom pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 32 11 25.58 71 0 0.00 LSM14B 149986 genome.wustl.edu 37 20 60702804 60702804 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 60702804 60702804 G C SNP LSM14B ENST00000253001 human ensembl 70_37 +1 known silent c.591 p.L197 0.004 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 38 9 19.15 52 0 0.00 LSM4 25804 genome.wustl.edu 37 19 18418061 18418061 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18418061 18418061 C A SNP LSM4 ENST00000252816 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors LSM4 HGNC ENSG00000130520 4 7 63.64 11 0 0.00 LSM4 25804 genome.wustl.edu 37 19 18423461 18423461 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 18423461 18423461 C T SNP LSM4 ENST00000593829 human ensembl 70_37 -1 known missense c.97 p.D33N 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC ENSG00000130520 33 4 10.81 25 0 0.00 LSM5 23658 genome.wustl.edu 37 7 32529949 32529949 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 32529949 32529949 G A SNP LSM5 ENST00000450169 human ensembl 70_37 -1 known missense c.29 p.S10L 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM5 HGNC ENSG00000106355 44 7 13.73 61 0 0.00 LSM6 11157 genome.wustl.edu 37 4 147110796 147110796 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 147110796 147110796 G C SNP LSM6 ENST00000296581 human ensembl 70_37 +1 known missense c.231 p.K77N 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM6 HGNC ENSG00000164167 61 17 21.79 67 0 0.00 LSMD1 84316 genome.wustl.edu 37 17 7760387 7760387 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7760387 7760387 C A SNP LSMD1 ENST00000333775 human ensembl 70_37 -1 known missense c.355 p.D119Y 0.999 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSMD1 HGNC ENSG00000183011 24 17 41.46 40 0 0.00 LSP1 4046 genome.wustl.edu 37 11 1887970 1887970 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 1887970 1887970 C G SNP LSP1 ENST00000381775 human ensembl 70_37 +1 putative nonsense c.266 p.S89* 0.001 NULL pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 4 22 81.48 42 0 0.00 LSP1 4046 genome.wustl.edu 37 11 1902741 1902741 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 1902741 1902741 C T SNP LSP1 ENST00000311604 human ensembl 70_37 +1 known missense c.271 p.R91W 0.473 prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 7 3 30.00 23 0 0.00 LSP1 4046 genome.wustl.edu 37 11 1908067 1908067 + Nonsense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 1908067 1908067 C T SNP LSP1 ENST00000311604 human ensembl 70_37 +1 known nonsense c.823 p.Q275* 1.000 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 28 15 34.88 71 0 0.00 LSS 4047 genome.wustl.edu 37 21 47635106 47635106 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 47635106 47635106 G C SNP LSS ENST00000356396 human ensembl 70_37 -1 known missense c.999 p.I333M 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 31 13 29.55 43 0 0.00 LSS 4047 genome.wustl.edu 37 21 47639401 47639401 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 47639401 47639401 G A SNP LSS ENST00000356396 human ensembl 70_37 -1 known silent c.636 p.F212 0.988 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 52 7 11.86 46 0 0.00 LSS 4047 genome.wustl.edu 37 21 47647571 47647571 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 47647571 47647571 T G SNP LSS ENST00000356396 human ensembl 70_37 -1 known missense c.214 p.T72P 0.993 NULL pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 14 5 26.32 37 0 0.00 LTA 4049 genome.wustl.edu 37 6 31540806 31540806 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31540806 31540806 C T SNP LTA ENST00000418386 human ensembl 70_37 +1 known silent c.201 p.L67 0.970 superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC ENSG00000226979 6 39 86.67 42 0 0.00 LTA 4049 genome.wustl.edu 37 6 31541299 31541299 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31541299 31541299 C G SNP LTA ENST00000418386 human ensembl 70_37 +1 known silent c.447 p.L149 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC ENSG00000226979 25 13 33.33 33 0 0.00 LTBP1 4052 genome.wustl.edu 37 2 33335744 33335744 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 33335744 33335744 T G SNP LTBP1 ENST00000354476 human ensembl 70_37 +1 known missense c.959 p.I320S 0.312 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 39 13 25.00 72 0 0.00 LTBP1 4052 genome.wustl.edu 37 2 33534509 33534509 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 33534509 33534509 G A SNP LTBP1 ENST00000354476 human ensembl 70_37 +1 known missense c.3493 p.E1165K 0.992 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 24 15 38.46 26 0 0.00 LTBP2 4053 genome.wustl.edu 37 14 74994061 74994061 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 74994061 74994061 G C SNP LTBP2 ENST00000261978 human ensembl 70_37 -1 known missense c.2377 p.Q793E 0.543 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 38 13 25.49 56 0 0.00 LTBP2 4053 genome.wustl.edu 37 14 75078169 75078169 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 75078169 75078169 C G SNP LTBP2 ENST00000261978 human ensembl 70_37 -1 known missense c.479 p.R160P 1.000 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 67 16 19.28 71 0 0.00 LTBP3 4054 genome.wustl.edu 37 11 65307845 65307845 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 65307845 65307845 C G SNP LTBP3 ENST00000301873 human ensembl 70_37 -1 known missense c.3115 p.E1039Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 16 6 27.27 18 0 0.00 LTBP3 4054 genome.wustl.edu 37 11 65308423 65308423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 65308423 65308423 C T SNP LTBP3 ENST00000301873 human ensembl 70_37 -1 known missense c.2896 p.E966K 0.998 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 30 22 42.31 79 0 0.00 LTBP3 4054 genome.wustl.edu 37 11 65320673 65320673 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 65320673 65320673 G T SNP LTBP3 ENST00000301873 human ensembl 70_37 -1 known missense c.1025 p.P342H 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 19 4 17.39 19 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41105464 41105464 + Splice_Site SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 41105464 41105464 T C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known splice_site c.341+2 e3+2 1.000 - - - no_errors LTBP4 HGNC ENSG00000090006 37 34 47.89 56 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41111379 41111379 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 41111379 41111379 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.712 p.E238Q 1.000 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 34 15 30.61 40 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41111433 41111433 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 41111433 41111433 G A SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.766 p.E256K 0.127 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 19 6 24.00 38 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41112348 41112348 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 41112348 41112348 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.1108 p.G370R 1.000 pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 24 18 42.86 32 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41117815 41117815 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 41117815 41117815 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.2305 p.E769Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 55 40 42.11 36 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41120238 41120238 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 41120238 41120238 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.2899 p.E967Q 0.443 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 51 7 12.07 52 0 0.00 LTBP4 8425 genome.wustl.edu 37 19 41133092 41133092 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 41133092 41133092 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.4396 p.G1466R 0.524 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 11 3 21.43 26 0 0.00 LTBR 4055 genome.wustl.edu 37 12 6494466 6494466 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 6494466 6494466 C T SNP LTBR ENST00000228918 human ensembl 70_37 +1 known silent c.393 p.F131 0.987 smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR - no_errors LTBR HGNC ENSG00000111321 58 8 12.12 85 0 0.00 LTBR 4055 genome.wustl.edu 37 12 6497463 6497463 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6497463 6497463 C G SNP LTBR ENST00000541005 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors LTBR HGNC ENSG00000111321 4 7 63.64 11 0 0.00 LTBR 4055 genome.wustl.edu 37 12 6499901 6499902 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 6499901 6499902 - G INS LTBR ENST00000228918 human ensembl 70_37 +1 known frame_shift_ins c.1106_1107 p.P372fs 0.411:0.497 pirsf_TNFR_3_LTBR pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR - no_errors LTBR HGNC ENSG00000111321 33 11 25.00 30 0 0.00 LTF 4057 genome.wustl.edu 37 3 46480801 46480801 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 46480801 46480801 A G SNP LTF ENST00000231751 human ensembl 70_37 -1 known silent c.1894 p.L632 0.948 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 47 6 11.32 48 0 0.00 LTF 4057 genome.wustl.edu 37 3 46497810 46497810 + Missense_Mutation SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 46497810 46497810 C A SNP LTF ENST00000231751 human ensembl 70_37 -1 known missense c.286 p.V96L 0.073 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 22 14 38.89 63 0 0.00 LTK 4058 genome.wustl.edu 37 15 41797410 41797410 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 41797410 41797410 G T SNP LTK ENST00000263800 human ensembl 70_37 -1 known missense c.1921 p.H641N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 30 4 11.76 59 0 0.00 LTK 4058 genome.wustl.edu 37 15 41797683 41797683 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 41797683 41797683 G A SNP LTK ENST00000263800 human ensembl 70_37 -1 known silent c.1743 p.L581 0.097 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 35 8 18.60 35 0 0.00 LTK 4058 genome.wustl.edu 37 15 41801322 41801322 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 41801322 41801322 C T SNP LTK ENST00000263800 human ensembl 70_37 -1 known missense c.1003 p.D335N 0.968 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 29 11 27.50 37 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30316810 30316810 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 30316810 30316810 G C SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.3877 p.L1293V 0.067 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 29 6 17.14 37 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30329098 30329098 + Missense_Mutation SNP T T A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 30329098 30329098 T A SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.3065 p.E1022V 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 42 15 26.32 60 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30339080 30339080 + Missense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 21 30339080 30339080 G T SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.1733 p.S578Y 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 32 4 11.11 33 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T T - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 30339206 30339206 T - DEL LTN1 ENST00000361371 human ensembl 70_37 -1 known frame_shift_del c.1607 p.N536fs 0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 46 8 14.81 48 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30357145 30357145 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 30357145 30357145 C T SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.444 p.M148I 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 37 14 27.45 47 0 0.00 LTN1 26046 genome.wustl.edu 37 21 30358482 30358482 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 30358482 30358482 C A SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.323 p.R108I 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 18 5 21.74 33 0 0.00 LTV1 84946 genome.wustl.edu 37 6 144184640 144184640 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 144184640 144184640 G A SNP LTV1 ENST00000367576 human ensembl 70_37 +1 known silent c.1404 p.K468 0.732 NULL pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 14 4 22.22 11 0 0.00 LUC7L 55692 genome.wustl.edu 37 16 242962 242962 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 242962 242962 C G SNP LUC7L ENST00000293872 human ensembl 70_37 -1 known missense c.740 p.R247T 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L HGNC ENSG00000007392 56 13 18.84 85 0 0.00 LUC7L2 51631 genome.wustl.edu 37 7 139059158 139059158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 139059158 139059158 C G SNP LUC7L2 ENST00000456182 human ensembl 70_37 +1 known missense c.73 p.L25V 1.000 NULL NULL - no_errors LUC7L2 HGNC ENSG00000146963 45 19 29.69 63 0 0.00 LUC7L3 51747 genome.wustl.edu 37 17 48822088 48822088 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48822088 48822088 G A SNP LUC7L3 ENST00000240304 human ensembl 70_37 +1 known missense c.607 p.D203N 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L3 HGNC ENSG00000108848 24 8 25.00 28 0 0.00 LUC7L3 51747 genome.wustl.edu 37 17 48828531 48828531 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48828531 48828531 C G SNP LUC7L3 ENST00000503798 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors LUC7L3 HGNC ENSG00000108848 90 27 22.88 90 0 0.00 LUM 4060 genome.wustl.edu 37 12 91502639 91502639 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 91502639 91502639 C T SNP LUM ENST00000266718 human ensembl 70_37 -1 known missense c.118 p.E40K 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 65 21 24.42 53 0 0.00 LURAP1L 286343 genome.wustl.edu 37 9 12775994 12775994 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 12775994 12775994 G C SNP LURAP1L ENST00000319264 human ensembl 70_37 +1 known missense c.280 p.E94Q 1.000 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 25 18 41.86 43 0 0.00 LUZP1 7798 genome.wustl.edu 37 1 23418235 23418235 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 23418235 23418235 G A SNP LUZP1 ENST00000302291 human ensembl 70_37 -1 known silent c.2520 p.S840 0.019 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 30 29 49.15 46 0 0.00 LUZP2 338645 genome.wustl.edu 37 11 24759791 24759791 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 24759791 24759791 G A SNP LUZP2 ENST00000336930 human ensembl 70_37 +1 known silent c.276 p.E92 0.999 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 33 5 13.16 56 0 0.00 LUZP2 338645 genome.wustl.edu 37 11 25004778 25004778 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 25004778 25004778 G T SNP LUZP2 ENST00000336930 human ensembl 70_37 +1 known missense c.704 p.R235L 0.984 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 31 4 11.11 39 0 0.00 LY6G5B 58496 genome.wustl.edu 37 6 31638730 31638730 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31638730 31638730 G C SNP LY6G5B ENST00000375864 human ensembl 70_37 +1 known missense c.3 p.M1I 0.048 NULL NULL - no_errors LY6G5B HGNC ENSG00000240053 48 31 39.24 91 0 0.00 LY6G6F 259215 genome.wustl.edu 37 6 31675808 31675808 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31675808 31675808 C T SNP LY6G6F ENST00000556581 human ensembl 70_37 +1 known silent c.543 p.L181 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors LY6G6F HGNC ENSG00000204424 34 21 38.18 76 0 0.00 LY6H 4062 genome.wustl.edu 37 8 144240337 144240337 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144240337 144240337 G A SNP LY6H ENST00000342752 human ensembl 70_37 -1 known missense c.133 p.H45Y 0.990 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 41 12 22.64 48 0 0.00 LY6K 54742 genome.wustl.edu 37 8 143783124 143783124 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 143783124 143783124 G A SNP LY6K ENST00000561179 human ensembl 70_37 +1 known silent c.384 p.A128 0.000 NULL NULL - no_errors LY6K HGNC ENSG00000160886 47 51 52.04 100 0 0.00 LY6K 54742 genome.wustl.edu 37 8 143784515 143784515 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 143784515 143784515 T G SNP LY6K ENST00000561179 human ensembl 70_37 +1 known missense c.398 p.F133C 0.009 NULL NULL - no_errors LY6K HGNC ENSG00000160886 24 26 52.00 43 0 0.00 LY75 4065 genome.wustl.edu 37 2 160728989 160728989 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160728989 160728989 A C SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.2090 p.F697C 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 11 9 45.00 35 0 0.00 LY75 4065 genome.wustl.edu 37 2 160735169 160735169 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160735169 160735169 T G SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.1579 p.N527H 0.964 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 42 19 31.15 65 0 0.00 LY75 4065 genome.wustl.edu 37 2 160741792 160741792 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 160741792 160741792 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.926 p.A309V 0.018 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 49 7 12.50 52 0 0.00 LY75 4065 genome.wustl.edu 37 2 160755557 160755557 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160755557 160755557 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known silent c.108 p.F36 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 54 22 28.95 81 0 0.00 LY75 4065 genome.wustl.edu 37 2 160755557 160755557 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160755557 160755557 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known silent c.108 p.F36 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 112 37 24.83 75 0 0.00 LY86 9450 genome.wustl.edu 37 6 6649893 6649893 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 6649893 6649893 G A SNP LY86 ENST00000230568 human ensembl 70_37 +1 known missense c.388 p.E130K 0.025 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY86 HGNC ENSG00000112799 32 7 17.95 59 0 0.00 LY9 4063 genome.wustl.edu 37 1 160766081 160766081 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160766081 160766081 C G SNP LY9 ENST00000263285 human ensembl 70_37 +1 known missense c.104 p.S35C 0.055 NULL smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 44 27 37.50 55 0 0.00 LY9 4063 genome.wustl.edu 37 1 160769448 160769448 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 160769448 160769448 G A SNP LY9 ENST00000485624 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors LY9 HGNC ENSG00000122224 7 3 30.00 24 0 0.00 LY9 4063 genome.wustl.edu 37 1 160784494 160784494 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 160784494 160784494 G A SNP LY9 ENST00000263285 human ensembl 70_37 +1 known missense c.1015 p.V339M 0.007 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 28 4 12.50 21 0 0.00 LY96 23643 genome.wustl.edu 37 8 74939045 74939045 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 8 74939045 74939045 C T SNP LY96 ENST00000284818 human ensembl 70_37 +1 known missense c.353 p.S118L 0.014 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY96 HGNC ENSG00000154589 27 13 32.50 34 0 0.00 LY96 23643 genome.wustl.edu 37 8 74939055 74939055 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 74939055 74939055 C A SNP LY96 ENST00000284818 human ensembl 70_37 +1 known missense c.363 p.F121L 0.589 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY96 HGNC ENSG00000154589 20 7 25.93 33 0 0.00 LYAR 55646 genome.wustl.edu 37 4 4281444 4281444 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 4281444 4281444 G A SNP LYAR ENST00000343470 human ensembl 70_37 -1 known silent c.270 p.V90 1.000 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 32 17 34.69 54 0 0.00 LYG1 129530 genome.wustl.edu 37 2 99907879 99907879 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 99907879 99907879 G A SNP LYG1 ENST00000308528 human ensembl 70_37 -1 known missense c.154 p.R52C 0.912 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 14 6 30.00 33 0 0.00 LYL1 4066 genome.wustl.edu 37 19 13211489 13211489 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 13211489 13211489 C G SNP LYL1 ENST00000264824 human ensembl 70_37 -1 known missense c.409 p.E137Q 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors LYL1 HGNC ENSG00000104903 348 81 18.88 375 0 0.00 LYN 4067 genome.wustl.edu 37 8 56910991 56910991 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 56910991 56910991 C G SNP LYN ENST00000519728 human ensembl 70_37 +1 known silent c.1137 p.L379 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 26 4 13.33 51 0 0.00 LYNX1 66004 genome.wustl.edu 37 8 143846091 143846091 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 143846091 143846091 G T SNP LYNX1 ENST00000335822 human ensembl 70_37 -1 known missense c.328 p.P110T 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC ENSG00000180155 75 45 37.50 95 0 0.00 LYPD3 27076 genome.wustl.edu 37 19 43965504 43965504 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 43965504 43965504 C T SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known silent c.1040 p.*347 0.992 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 21 9 30.00 35 0 0.00 LYPD3 27076 genome.wustl.edu 37 19 43965792 43965792 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 43965792 43965792 G A SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known missense c.752 p.S251L 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 198 51 20.48 285 0 0.00 LYPD3 27076 genome.wustl.edu 37 19 43967923 43967923 + Splice_Site SNP T T C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 43967923 43967923 T C SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known splice_site c.212-2 e3-2 0.957 - - - no_errors LYPD3 HGNC ENSG00000124466 60 20 24.69 50 0 0.00 LYPD3 27076 genome.wustl.edu 37 19 43968495 43968495 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 43968495 43968495 C T SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known missense c.193 p.V65M 0.991 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 13 4 23.53 24 0 0.00 LYPD5 284348 genome.wustl.edu 37 19 44302644 44302644 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 44302644 44302644 C G SNP LYPD5 ENST00000377950 human ensembl 70_37 -1 known missense c.480 p.Q160H 0.939 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 78 17 17.89 110 0 0.00 LYPD5 284348 genome.wustl.edu 37 19 44302734 44302734 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44302734 44302734 G A SNP LYPD5 ENST00000377950 human ensembl 70_37 -1 known silent c.390 p.L130 1.000 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 63 17 21.25 59 0 0.00 LYPD5 284348 genome.wustl.edu 37 19 44302748 44302748 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 44302748 44302748 C T SNP LYPD5 ENST00000377950 human ensembl 70_37 -1 known missense c.376 p.D126N 0.001 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 56 62 52.10 63 0 0.00 LYPD6 130574 genome.wustl.edu 37 2 150320678 150320678 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 150320678 150320678 G C SNP LYPD6 ENST00000392854 human ensembl 70_37 +1 known missense c.218 p.G73A 0.020 NULL NULL - no_errors LYPD6 HGNC ENSG00000187123 16 10 38.46 26 0 0.00 LYPD6 130574 genome.wustl.edu 37 2 150327251 150327251 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 150327251 150327251 G A SNP LYPD6 ENST00000334166 human ensembl 70_37 +1 known missense c.403 p.E135K 1.000 NULL pfam_LY6_UPAR - no_errors LYPD6 HGNC ENSG00000187123 57 50 46.73 112 0 0.00 LYPD6B 130576 genome.wustl.edu 37 2 150071114 150071114 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 150071114 150071114 C G SNP LYPD6B ENST00000280115 human ensembl 70_37 +1 known missense c.514 p.H172D 1.000 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 31 12 27.91 23 0 0.00 LYPLAL1 127018 genome.wustl.edu 37 1 219347236 219347236 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 219347236 219347236 G A SNP LYPLAL1 ENST00000366928 human ensembl 70_37 +1 known missense c.4 p.A2T 0.776 NULL pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 17 15 46.88 67 0 0.00 LYPLAL1 127018 genome.wustl.edu 37 1 219347293 219347293 + Missense_Mutation SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 219347293 219347293 A T SNP LYPLAL1 ENST00000366928 human ensembl 70_37 +1 known missense c.61 p.S21C 1.000 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 61 11 15.28 51 0 0.00 LYRM4 57128 genome.wustl.edu 37 6 5144479 5144479 + Silent SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 5144479 5144479 T C SNP LYRM4 ENST00000464010 human ensembl 70_37 -1 putative silent c.225 p.T75 0.000 NULL pfam_Complex1_LYR - no_errors LYRM4 HGNC ENSG00000214113 9 3 25.00 19 0 0.00 LYRM4 57128 genome.wustl.edu 37 6 5144484 5144484 + Missense_Mutation SNP C C A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 5144484 5144484 C A SNP LYRM4 ENST00000464010 human ensembl 70_37 -1 putative missense c.220 p.G74C 0.000 NULL pfam_Complex1_LYR - no_errors LYRM4 HGNC ENSG00000214113 14 4 22.22 13 0 0.00 LYSMD4 145748 genome.wustl.edu 37 15 100256544 100256544 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 100256544 100256544 C T SNP LYSMD4 ENST00000496108 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LYSMD4 HGNC ENSG00000183060 18 6 25.00 25 0 0.00 LYSMD4 145748 genome.wustl.edu 37 15 100269463 100269463 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 15 100269463 100269463 C T SNP LYSMD4 ENST00000344791 human ensembl 70_37 -1 known silent c.759 p.L253 0.917 NULL NULL - no_errors LYSMD4 HGNC ENSG00000183060 161 87 35.08 215 0 0.00 LYST 1130 genome.wustl.edu 37 1 235824371 235824371 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 235824371 235824371 G C SNP LYST ENST00000473037 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors LYST HGNC ENSG00000143669 17 5 22.73 29 0 0.00 LYST 1130 genome.wustl.edu 37 1 235850285 235850285 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235850285 235850285 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known silent c.10764 p.V3588 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 58 27 31.76 70 0 0.00 LYST 1130 genome.wustl.edu 37 1 235944211 235944211 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 235944211 235944211 C G SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.5168 p.R1723T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 63 27 30.00 51 0 0.00 LYST 1130 genome.wustl.edu 37 1 235944340 235944340 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 235944340 235944340 G C SNP LYST ENST00000389793 human ensembl 70_37 -1 known nonsense c.5039 p.S1680* 0.966 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 26 4 13.33 35 0 0.00 LYST 1130 genome.wustl.edu 37 1 235952024 235952024 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 235952024 235952024 G T SNP LYST ENST00000389793 human ensembl 70_37 -1 known silent c.4665 p.P1555 0.191 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 44 5 10.20 33 0 0.00 LYST 1130 genome.wustl.edu 37 1 235955247 235955247 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 235955247 235955247 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.4295 p.S1432L 0.988 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 351 54 13.33 297 0 0.00 LYST 1130 genome.wustl.edu 37 1 235964185 235964185 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 235964185 235964185 G C SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.3925 p.L1309V 0.995 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 41 12 22.64 38 0 0.00 LYST 1130 genome.wustl.edu 37 1 235964366 235964366 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 235964366 235964366 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known silent c.3744 p.F1248 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 42 9 17.65 34 0 0.00 LYST 1130 genome.wustl.edu 37 1 235969198 235969198 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 235969198 235969198 C G SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.3238 p.A1080P 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 69 26 27.37 89 0 0.00 LYST 1130 genome.wustl.edu 37 1 235969573 235969573 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 235969573 235969573 C G SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.2863 p.E955Q 0.986 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 97 40 29.20 116 0 0.00 LYST 1130 genome.wustl.edu 37 1 235973634 235973634 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 235973634 235973634 G T SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.484 p.Q162K 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 21 3 12.50 58 0 0.00 LYZL1 84569 genome.wustl.edu 37 10 29578116 29578116 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 29578116 29578116 G A SNP LYZL1 ENST00000375500 human ensembl 70_37 +1 known missense c.70 p.E24K 0.000 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 79 14 15.05 66 0 0.00 LYZL1 84569 genome.wustl.edu 37 10 29581549 29581549 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 10 29581549 29581549 G A SNP LYZL1 ENST00000375500 human ensembl 70_37 +1 known missense c.379 p.A127T 0.191 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 48 35 42.17 67 0 0.00 LYZL2 119180 genome.wustl.edu 37 10 30900895 30900895 + Nonsense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 30900895 30900895 C A SNP LYZL2 ENST00000375318 human ensembl 70_37 -1 known nonsense c.574 p.E192* 0.895 superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 97 37 27.61 109 0 0.00 LYZL2 119180 genome.wustl.edu 37 10 30918616 30918616 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 30918616 30918616 T C SNP LYZL2 ENST00000375318 human ensembl 70_37 -1 known missense c.19 p.S7G 0.018 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 37 8 17.78 40 0 0.00 LZIC 84328 genome.wustl.edu 37 1 9992944 9992944 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 9992944 9992944 G A SNP LZIC ENST00000541052 human ensembl 70_37 -1 known silent c.412 p.L138 0.999 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 28 4 12.50 60 0 0.00 LZTR1 8216 genome.wustl.edu 37 22 21336750 21336750 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21336750 21336750 C G SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 68 32 32.00 63 0 0.00 LZTR1 8216 genome.wustl.edu 37 22 21345972 21345972 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 22 21345972 21345972 C T SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.847 p.R283W 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 52 8 13.33 36 0 0.00 LZTR1 8216 genome.wustl.edu 37 22 21346583 21346583 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 21346583 21346583 C G SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.1074 p.F358L 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 44 19 30.16 62 0 0.00 LZTS1 11178 genome.wustl.edu 37 8 20107234 20107234 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 20107234 20107234 C T SNP LZTS1 ENST00000265801 human ensembl 70_37 -1 known silent c.1790 p.*597 1.000 NULL pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 63 10 13.70 76 0 0.00 LINC00948 100507027 genome.wustl.edu 37 10 61496870 61496870 + RNA SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 61496870 61496870 A G SNP M1 ENST00000414264 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-59J5.1 Clone_based_vega_gene ENSG00000227877 80 18 18.37 24 0 0.00 LINC00948 100507027 genome.wustl.edu 37 10 61496974 61496974 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 61496974 61496974 G A SNP M1 ENST00000414264 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-59J5.1 Clone_based_vega_gene ENSG00000227877 14 8 36.36 23 0 0.00 LINC00948 100507027 genome.wustl.edu 37 10 61498880 61498881 + RNA INS - - A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 10 61498880 61498881 - A INS M1 ENST00000598384 human ensembl 70_37 -1 known rna NULL NULL 0.064:0.062 - - - no_errors RP11-59J5.1 Clone_based_vega_gene ENSG00000227877 22 5 18.52 25 0 0.00 M6PR 4074 genome.wustl.edu 37 12 9095088 9095088 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 9095088 9095088 C T SNP M6PR ENST00000000412 human ensembl 70_37 -1 known missense c.635 p.R212Q 1.000 prints_Man_6_P_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC ENSG00000003056 119 35 22.73 171 0 0.00 MAATS1 89876 genome.wustl.edu 37 3 119434565 119434565 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 119434565 119434565 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known silent c.657 p.L219 0.728 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 75 12 13.64 81 0 0.00 MAATS1 89876 genome.wustl.edu 37 3 119449158 119449158 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119449158 119449158 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known missense c.952 p.R318W 0.959 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 25 15 37.50 44 0 0.00 MAATS1 89876 genome.wustl.edu 37 3 119452308 119452308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 119452308 119452308 G A SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known silent c.1299 p.L433 0.992 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 59 17 22.37 55 0 0.00 MAATS1 89876 genome.wustl.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 119462963 119462963 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known missense c.1822 p.R608W 0.968 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 32 19 35.85 20 0 0.00 MAATS1 89876 genome.wustl.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 119462963 119462963 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known missense c.1822 p.R608W 0.968 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 71 46 38.98 81 0 0.00 MAB21L1 4081 genome.wustl.edu 37 13 36049347 36049347 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36049347 36049347 C T SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known missense c.929 p.C310Y 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 28 12 30.00 67 0 0.00 MAB21L1 4081 genome.wustl.edu 37 13 36049469 36049469 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 36049469 36049469 C G SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known missense c.807 p.L269F 0.588 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 13 15 53.57 25 0 0.00 MAB21L1 4081 genome.wustl.edu 37 13 36049917 36049917 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 36049917 36049917 G C SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known missense c.359 p.S120C 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 27 11 28.95 32 0 0.00 MAB21L1 4081 genome.wustl.edu 37 13 36050012 36050012 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 36050012 36050012 G A SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known silent c.264 p.F88 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 7 13 65.00 15 0 0.00 MAB21L1 4081 genome.wustl.edu 37 13 36050078 36050078 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 36050078 36050078 G A SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known silent c.198 p.L66 0.906 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 16 6 27.27 23 0 0.00 MAB21L2 10586 genome.wustl.edu 37 4 151504436 151504436 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 151504436 151504436 C T SNP MAB21L2 ENST00000317605 human ensembl 70_37 +1 known silent c.255 p.V85 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 35 19 35.19 22 0 0.00 MAB21L2 10586 genome.wustl.edu 37 4 151504776 151504776 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 151504776 151504776 C T SNP MAB21L2 ENST00000317605 human ensembl 70_37 +1 known missense c.595 p.R199W 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 40 5 11.11 28 0 0.00 MACC1 346389 genome.wustl.edu 37 7 20193818 20193818 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 20193818 20193818 C G SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known missense c.2344 p.E782Q 0.969 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 25 13 34.21 31 0 0.00 MACC1 346389 genome.wustl.edu 37 7 20193845 20193845 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 20193845 20193845 G C SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known missense c.2317 p.R773G 0.648 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 30 13 30.23 41 0 0.00 MACC1 346389 genome.wustl.edu 37 7 20198624 20198624 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 20198624 20198624 C A SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known nonsense c.1360 p.E454* 1.000 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 11 3 21.43 23 0 0.00 MACC1 346389 genome.wustl.edu 37 7 20198840 20198840 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 20198840 20198840 G A SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known missense c.1144 p.P382S 1.000 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 14 11 44.00 30 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39735230 39735230 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 39735230 39735230 G C SNP MACF1 ENST00000496804 human ensembl 70_37 +1 known silent c.861 p.V287 0.977 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors MACF1 HGNC ENSG00000127603 25 7 21.88 29 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39751356 39751356 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39751356 39751356 C G SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known silent c.1449 p.L483 0.996 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 16 11 40.74 31 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39753018 39753018 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39753018 39753018 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known silent c.1584 p.R528 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 25 8 24.24 77 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39776539 39776539 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 39776539 39776539 C T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.3152 p.S1051L 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 31 16 33.33 49 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39789874 39789874 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 39789874 39789874 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.4261 p.E1421K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 29 11 27.50 38 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39801471 39801471 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 39801471 39801471 G A SNP MACF1 ENST00000567887 human ensembl 70_37 +1 putative missense c.9322 p.E3108K 0.125 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 32 5 13.51 28 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39802262 39802262 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 39802262 39802262 C T SNP MACF1 ENST00000567887 human ensembl 70_37 +1 putative silent c.10113 p.F3371 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 56 14 20.00 39 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39815296 39815296 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 39815296 39815296 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.4776 p.L1592F 0.971 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 7 6 46.15 23 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39844931 39844931 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 39844931 39844931 G T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.7147 p.G2383W 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 34 4 10.53 34 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39853296 39853296 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 39853296 39853296 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.8596 p.E2866Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 28 14 33.33 56 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39853530 39853530 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 39853530 39853530 G T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known nonsense c.8830 p.E2944* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 10 6 37.50 11 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39888163 39888163 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 39888163 39888163 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.9748 p.D3250N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 35 17 32.69 56 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39888169 39888169 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 39888169 39888169 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.9754 p.E3252K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 35 16 31.37 56 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39893651 39893651 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 39893651 39893651 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.10309 p.E3437K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 35 12 25.53 49 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39910438 39910438 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 39910438 39910438 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.13359 p.K4453N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 59 18 23.38 71 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39934326 39934326 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 39934326 39934326 C T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.15616 p.R5206C 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 22 14 38.89 58 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39950488 39950488 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 39950488 39950488 C T SNP MACF1 ENST00000496360 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MACF1 HGNC ENSG00000127603 17 8 32.00 32 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39951743 39951743 + RNA DEL A A - TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 39951743 39951743 A - DEL MACF1 ENST00000496360 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors MACF1 HGNC ENSG00000127603 36 7 16.28 37 0 0.00 MACF1 23499 genome.wustl.edu 37 1 39952335 39952335 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 39952335 39952335 G A SNP MACF1 ENST00000497807 human ensembl 70_37 +1 known rna NULL NULL 0.934 - - - no_errors MACF1 HGNC ENSG00000127603 4 43 91.49 33 0 0.00 MACROD2 140733 genome.wustl.edu 37 20 15866419 15866420 + In_Frame_Ins INS - - GAA TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 15866419 15866420 - GAA INS MACROD2 ENST00000310348 human ensembl 70_37 +1 known in_frame_ins c.738_739 p.250in_frame_insE 1.000:1.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp - no_errors MACROD2 HGNC ENSG00000172264 7 4 36.36 44 0 0.00 MAD1L1 8379 genome.wustl.edu 37 7 1855475 1855475 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 1855475 1855475 G C SNP MAD1L1 ENST00000468372 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAD1L1 HGNC ENSG00000002822 105 14 11.76 105 1 0.94 MAD1L1 8379 genome.wustl.edu 37 7 1855517 1855517 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 1855517 1855517 C T SNP MAD1L1 ENST00000468372 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAD1L1 HGNC ENSG00000002822 93 23 19.83 108 0 0.00 MAD2L1BP 9587 genome.wustl.edu 37 6 43608105 43608105 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43608105 43608105 C T SNP MAD2L1BP ENST00000451025 human ensembl 70_37 +1 known silent c.756 p.N252 0.993 pfam_MAD1/Cdc20-bound-Mad2-bd pfam_MAD1/Cdc20-bound-Mad2-bd - no_errors MAD2L1BP HGNC ENSG00000124688 20 13 39.39 22 0 0.00 MADCAM1 8174 genome.wustl.edu 37 19 498693 498693 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 498693 498693 G T SNP MADCAM1 ENST00000215637 human ensembl 70_37 +1 known nonsense c.535 p.E179* 0.053 pfam_Adhes-Ig-like pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC ENSG00000099866 17 8 32.00 19 0 0.00 MADCAM1 8174 genome.wustl.edu 37 19 501714 501714 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 501714 501714 C A SNP MADCAM1 ENST00000215637 human ensembl 70_37 +1 known missense c.713 p.P238Q 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC ENSG00000099866 39 6 13.33 31 0 0.00 MADCAM1 8174 genome.wustl.edu 37 19 501802 501802 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 501802 501802 G C SNP MADCAM1 ENST00000215637 human ensembl 70_37 +1 known missense c.801 p.K267N 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC ENSG00000099866 12 5 29.41 20 0 0.00 MADD 8567 genome.wustl.edu 37 11 47296120 47296120 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 47296120 47296120 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known silent c.69 p.P23 0.991 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 151 42 21.65 230 0 0.00 MADD 8567 genome.wustl.edu 37 11 47297526 47297526 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 47297526 47297526 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.736 p.E246Q 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 24 20 45.45 43 0 0.00 MADD 8567 genome.wustl.edu 37 11 47297739 47297739 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 47297739 47297739 C T SNP MADD ENST00000311027 human ensembl 70_37 +1 known silent c.949 p.L317 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 60 16 21.05 75 0 0.00 MADD 8567 genome.wustl.edu 37 11 47306884 47306884 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 47306884 47306884 C T SNP MADD ENST00000524686 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MADD HGNC ENSG00000110514 29 20 40.82 55 0 0.00 MADD 8567 genome.wustl.edu 37 11 47317492 47317492 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 47317492 47317492 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.3645 p.L1215F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 11 13 54.17 57 0 0.00 MADD 8567 genome.wustl.edu 37 11 47331143 47331143 + Missense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 47331143 47331143 T A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4138 p.S1380T 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 64 27 29.67 83 0 0.00 MADD 8567 genome.wustl.edu 37 11 47333367 47333367 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 47333367 47333367 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4243 p.E1415Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 8 21 72.41 42 0 0.00 MADD 8567 genome.wustl.edu 37 11 47345231 47345231 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47345231 47345231 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4387 p.D1463N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 54 21 28.00 86 0 0.00 MADD 8567 genome.wustl.edu 37 11 47346268 47346268 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47346268 47346268 G A SNP MADD ENST00000405573 human ensembl 70_37 +1 novel missense c.1292 p.G431E 0.007 NULL NULL - no_errors MADD HGNC ENSG00000110514 11 3 21.43 10 0 0.00 MADD 8567 genome.wustl.edu 37 11 47350214 47350214 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 47350214 47350214 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4798 p.E1600K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 30 24 44.44 62 0 0.00 MAEA 10296 genome.wustl.edu 37 4 1293467 1293467 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 1293467 1293467 C A SNP MAEA ENST00000510862 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors MAEA HGNC ENSG00000090316 34 4 10.53 46 0 0.00 MAEA 10296 genome.wustl.edu 37 4 1293500 1293500 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 1293500 1293500 C A SNP MAEA ENST00000510862 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors MAEA HGNC ENSG00000090316 29 4 12.12 42 0 0.00 MAEA 10296 genome.wustl.edu 37 4 1316232 1316232 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 1316232 1316232 G A SNP MAEA ENST00000303400 human ensembl 70_37 +1 known missense c.520 p.E174K 1.000 smart_CTLH_C,pfscan_CTLH_C smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 39 29 42.65 72 0 0.00 MAEA 10296 genome.wustl.edu 37 4 1322572 1322572 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 1322572 1322572 C T SNP MAEA ENST00000503693 human ensembl 70_37 +1 known rna NULL NULL 0.043 - - - no_errors MAEA HGNC ENSG00000090316 19 8 29.63 29 0 0.00 MAEL 84944 genome.wustl.edu 37 1 166959038 166959038 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 166959038 166959038 G A SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.197 p.G66E 1.000 pfam_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 28 23 45.10 41 0 0.00 MAEL 84944 genome.wustl.edu 37 1 166959175 166959175 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 166959175 166959175 G A SNP MAEL ENST00000491055 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAEL HGNC ENSG00000143194 7 13 65.00 10 0 0.00 MAEL 84944 genome.wustl.edu 37 1 166963303 166963303 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 166963303 166963303 G A SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.520 p.A174T 1.000 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 20 15 42.86 41 0 0.00 MAEL 84944 genome.wustl.edu 37 1 166973503 166973503 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 166973503 166973503 C G SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.610 p.H204D 0.996 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 180 20 10.00 165 0 0.00 MAF1 84232 genome.wustl.edu 37 8 145160643 145160643 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145160643 145160643 G A SNP MAF1 ENST00000322428 human ensembl 70_37 +1 known silent c.57 p.E19 1.000 pirsf_RNA_pol_III_tscrpt_repres_MAF1 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 - no_errors MAF1 HGNC ENSG00000179632 35 18 33.96 34 0 0.00 MAF1 84232 genome.wustl.edu 37 8 145160803 145160803 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145160803 145160803 G A SNP MAF1 ENST00000322428 human ensembl 70_37 +1 known missense c.115 p.D39N 0.914 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 - no_errors MAF1 HGNC ENSG00000179632 46 10 17.86 37 0 0.00 MAFB 9935 genome.wustl.edu 37 20 39316690 39316690 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 39316690 39316690 C G SNP MAFB ENST00000373313 human ensembl 70_37 -1 known missense c.801 p.E267D 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 32 21 39.62 65 0 0.00 MAFF 23764 genome.wustl.edu 37 22 38610546 38610546 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 38610546 38610546 C G SNP MAFF ENST00000338483 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFF HGNC ENSG00000185022 24 9 27.27 52 0 0.00 MAG 4099 genome.wustl.edu 37 19 35793405 35793405 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 35793405 35793405 C T SNP MAG ENST00000392213 human ensembl 70_37 +1 known missense c.1025 p.T342M 0.863 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MAG HGNC ENSG00000105695 37 21 36.21 56 0 0.00 MAGEA1 4100 genome.wustl.edu 37 X 152482140 152482140 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 152482140 152482140 G A SNP MAGEA1 ENST00000356661 human ensembl 70_37 -1 known missense c.871 p.R291C 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 251 73 22.46 262 0 0.00 MAGEA11 4110 genome.wustl.edu 37 X 148794829 148794829 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 148794829 148794829 C T SNP MAGEA11 ENST00000355220 human ensembl 70_37 +1 known nonsense c.10 p.Q4* 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 67 25 27.17 69 0 0.00 MAGEA11 4110 genome.wustl.edu 37 X 148798206 148798206 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 148798206 148798206 G A SNP MAGEA11 ENST00000355220 human ensembl 70_37 +1 known missense c.1060 p.E354K 0.013 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 463 106 18.63 635 0 0.00 MAGEA12 4111 genome.wustl.edu 37 X 151900161 151900161 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 151900161 151900161 C T SNP MAGEA12 ENST00000357916 human ensembl 70_37 -1 known missense c.640 p.D214N 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 208 69 24.73 253 1 0.39 MAGEA3 4102 genome.wustl.edu 37 X 151935275 151935275 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 151935275 151935275 G A SNP MAGEA3 ENST00000370278 human ensembl 70_37 -1 known missense c.892 p.H298Y 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 153 38 19.79 136 0 0.00 MAGEA3 4102 genome.wustl.edu 37 X 151935841 151935841 + Missense_Mutation SNP A A T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 151935841 151935841 A T SNP MAGEA3 ENST00000370278 human ensembl 70_37 -1 known missense c.326 p.L109H 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 153 21 12.07 173 0 0.00 MAGEA4 4103 genome.wustl.edu 37 X 151093052 151093052 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 151093052 151093052 C T SNP MAGEA4 ENST00000276344 human ensembl 70_37 +1 known missense c.916 p.R306C 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 11 64 85.33 77 0 0.00 MAGEA6 4105 genome.wustl.edu 37 X 151869756 151869756 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 151869756 151869756 T C SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known missense c.446 p.V149A 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 179 31 14.76 198 0 0.00 MAGEA6 4105 genome.wustl.edu 37 X 151869985 151869985 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 151869985 151869985 G A SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known silent c.675 p.L225 0.046 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 148 37 20.00 199 0 0.00 MAGEA6 4105 genome.wustl.edu 37 X 151870004 151870004 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 151870004 151870004 G C SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known missense c.694 p.E232Q 0.012 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 170 57 25.11 200 0 0.00 MAGEA8 4107 genome.wustl.edu 37 X 149013299 149013299 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 149013299 149013299 G A SNP MAGEA8 ENST00000286482 human ensembl 70_37 +1 known missense c.253 p.E85K 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 47 20 29.85 46 0 0.00 MAGEA8 4107 genome.wustl.edu 37 X 149013328 149013328 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 149013328 149013328 G T SNP MAGEA8 ENST00000286482 human ensembl 70_37 +1 known silent c.282 p.G94 0.008 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 20 65 76.47 62 0 0.00 MAGEA9B 728269 genome.wustl.edu 37 X 148664667 148664667 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 148664667 148664667 G A SNP MAGEA9B ENST00000243314 human ensembl 70_37 -1 known missense c.169 p.P57S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA9B HGNC ENSG00000123584 8 6 42.86 19 0 0.00 MAGEB1 4112 genome.wustl.edu 37 X 30268663 30268663 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c X 30268663 30268663 C T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.53 p.A18V 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 66 27 29.03 28 0 0.00 MAGEB1 4112 genome.wustl.edu 37 X 30268673 30268673 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 30268673 30268673 G T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.63 p.E21D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 33 4 10.81 67 0 0.00 MAGEB1 4112 genome.wustl.edu 37 X 30269126 30269126 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 30269126 30269126 C T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known silent c.516 p.G172 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 57 13 18.57 57 0 0.00 MAGEB1 4112 genome.wustl.edu 37 X 30269213 30269213 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 30269213 30269213 G A SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known silent c.603 p.L201 0.046 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 44 7 13.73 69 0 0.00 MAGEB1 4112 genome.wustl.edu 37 X 30269339 30269339 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 30269339 30269339 G C SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.729 p.K243N 0.007 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 23 25 52.08 54 0 0.00 MAGEB10 139422 genome.wustl.edu 37 X 27839436 27839436 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 27839436 27839436 C T SNP MAGEB10 ENST00000356790 human ensembl 70_37 +1 known nonsense c.13 p.Q5* 0.029 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 30 13 30.23 34 0 0.00 MAGEB10 139422 genome.wustl.edu 37 X 27839694 27839694 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 27839694 27839694 G A SNP MAGEB10 ENST00000356790 human ensembl 70_37 +1 known missense c.271 p.E91K 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 16 12 42.86 39 0 0.00 MAGEB10 139422 genome.wustl.edu 37 X 27840298 27840298 + Missense_Mutation SNP T T G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 27840298 27840298 T G SNP MAGEB10 ENST00000356790 human ensembl 70_37 +1 known missense c.875 p.L292W 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 34 4 10.53 23 0 0.00 MAGEB16 139604 genome.wustl.edu 37 X 35820353 35820353 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 35820353 35820353 C T SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known nonsense c.136 p.Q46* 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 32 18 36.00 29 0 0.00 MAGEB16 139604 genome.wustl.edu 37 X 35820490 35820490 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 35820490 35820490 G C SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known missense c.273 p.E91D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 16 16 50.00 28 0 0.00 MAGEB16 139604 genome.wustl.edu 37 X 35820970 35820970 + Silent SNP T T C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 35820970 35820970 T C SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known silent c.753 p.R251 0.847 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 36 14 28.00 46 0 0.00 MAGEB16 139604 genome.wustl.edu 37 X 35821128 35821128 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 35821128 35821128 G A SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known missense c.911 p.R304Q 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 31 22 41.51 53 0 0.00 MAGEB17 645864 genome.wustl.edu 37 X 16188680 16188680 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 16188680 16188680 C T SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known missense c.175 p.P59S 0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC ENSG00000182798 14 10 41.67 36 0 0.00 MAGEB17 645864 genome.wustl.edu 37 X 16188732 16188732 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 16188732 16188732 C G SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known nonsense c.227 p.S76* 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC ENSG00000182798 11 7 38.89 23 0 0.00 MAGEB17 645864 genome.wustl.edu 37 X 16189073 16189073 + Silent SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 16189073 16189073 T C SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known silent c.568 p.L190 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC ENSG00000182798 19 14 42.42 33 0 0.00 MAGEB18 286514 genome.wustl.edu 37 X 26157301 26157301 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 26157301 26157301 G A SNP MAGEB18 ENST00000325250 human ensembl 70_37 +1 known missense c.199 p.A67T 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 52 12 18.75 68 0 0.00 MAGEB18 286514 genome.wustl.edu 37 X 26157793 26157793 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 26157793 26157793 G A SNP MAGEB18 ENST00000325250 human ensembl 70_37 +1 known missense c.691 p.D231N 0.136 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 34 12 26.09 36 0 0.00 MAGEB2 4113 genome.wustl.edu 37 X 30236904 30236904 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 30236904 30236904 C T SNP MAGEB2 ENST00000378988 human ensembl 70_37 +1 known silent c.207 p.A69 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 51 22 30.14 56 0 0.00 MAGEB3 4114 genome.wustl.edu 37 X 30254171 30254171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 30254171 30254171 C G SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.130 p.L44V 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 34 13 27.66 68 0 0.00 MAGEB3 4114 genome.wustl.edu 37 X 30254216 30254216 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 30254216 30254216 C T SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.175 p.R59C 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 63 66 51.16 103 0 0.00 MAGEB3 4114 genome.wustl.edu 37 X 30254899 30254899 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 30254899 30254899 G A SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.858 p.M286I 0.912 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 66 9 12.00 75 0 0.00 MAGEB4 4115 genome.wustl.edu 37 X 30260591 30260591 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 30260591 30260591 G A SNP MAGEB4 ENST00000378982 human ensembl 70_37 +1 known silent c.339 p.T113 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 17 10 37.04 33 0 0.00 MAGEB6 158809 genome.wustl.edu 37 X 26212431 26212431 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 26212431 26212431 G A SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known silent c.468 p.S156 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 39 5 10.87 57 0 0.00 MAGEB6 158809 genome.wustl.edu 37 X 26212614 26212614 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 26212614 26212614 G A SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known silent c.651 p.L217 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 48 14 22.58 64 0 0.00 MAGEB6 158809 genome.wustl.edu 37 X 26212649 26212649 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 26212649 26212649 A G SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known missense c.686 p.Y229C 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 79 21 21.00 103 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140993233 140993234 + Frame_Shift_Ins INS - - A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 140993233 140993234 - A INS MAGEC1 ENST00000285879 human ensembl 70_37 +1 known frame_shift_ins c.43_44 p.L15fs 0.000:0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 23 7 23.33 58 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140993495 140993495 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 140993495 140993495 C A SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.305 p.S102Y 0.961 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 30 11 26.83 52 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140994167 140994167 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 140994167 140994167 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.977 p.T326I 0.016 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 61 20 24.39 118 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140994453 140994453 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 140994453 140994453 G C SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1263 p.L421F 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 210 49 18.77 278 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140994539 140994539 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 140994539 140994539 C G SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1349 p.S450C 0.031 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 97 37 27.61 100 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140994802 140994802 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 140994802 140994802 G C SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1612 p.E538Q 0.955 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 20 39 66.10 104 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140994898 140994898 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 140994898 140994898 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known nonsense c.1708 p.Q570* 0.336 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 608 324 34.73 867 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140995697 140995697 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 140995697 140995697 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.2507 p.S836F 0.708 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 45 9 16.67 63 0 0.00 MAGEC1 9947 genome.wustl.edu 37 X 140996029 140996029 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 140996029 140996029 C G SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.2839 p.P947A 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 26 25 49.02 55 0 0.00 MAGEC2 51438 genome.wustl.edu 37 X 141290713 141290713 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 141290713 141290713 G A SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known missense c.1061 p.A354V 0.002 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 133 22 14.19 141 1 0.70 MAGEC2 51438 genome.wustl.edu 37 X 141290914 141290914 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 X 141290914 141290914 C T SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known missense c.860 p.R287Q 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 35 10 22.22 42 0 0.00 MAGEC2 51438 genome.wustl.edu 37 X 141291726 141291726 + Silent SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 141291726 141291726 G C SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known silent c.48 p.S16 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 108 74 40.00 196 0 0.00 MAGEC2 51438 genome.wustl.edu 37 X 141291726 141291726 + Silent SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 141291726 141291726 G C SNP MAGEC2 ENST00000247452 human ensembl 70_37 -1 known silent c.48 p.S16 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 26 9 25.71 28 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140967150 140967150 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 140967150 140967150 A G SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.448 p.T150A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 56 33 37.08 47 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140967211 140967211 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 140967211 140967211 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.509 p.A170V 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 39 12 23.53 21 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140969244 140969244 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 140969244 140969244 T C SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known silent c.571 p.L191 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 34 10 22.73 42 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140969264 140969264 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 140969264 140969264 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known silent c.591 p.L197 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 24 13 35.14 39 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140969327 140969327 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 140969327 140969327 C A SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known nonsense c.654 p.Y218* 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 221 42 15.91 232 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140983110 140983110 + Missense_Mutation SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 140983110 140983110 A T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.965 p.E322V 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 95 25 20.83 92 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140984602 140984602 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 140984602 140984602 C G SNP MAGEC3 ENST00000536088 human ensembl 70_37 +1 known missense c.164 p.S55C 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 19 7 26.92 33 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140984701 140984701 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 140984701 140984701 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.1157 p.P386L 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 31 11 26.19 58 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140984709 140984709 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 140984709 140984709 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known nonsense c.1165 p.Q389* 0.035 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 41 18 30.51 74 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140984784 140984784 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 140984784 140984784 A T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.1240 p.S414C 0.021 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 36 20 35.71 60 0 0.00 MAGEC3 139081 genome.wustl.edu 37 X 140985330 140985330 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 140985330 140985330 C T SNP MAGEC3 ENST00000536088 human ensembl 70_37 +1 known missense c.892 p.H298Y 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 30 16 34.78 50 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51639896 51639896 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 51639896 51639896 C G SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known missense c.1313 p.T438S 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 42 11 20.75 66 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51640555 51640555 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 51640555 51640555 G A SNP MAGED1 ENST00000494718 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGED1 HGNC ENSG00000179222 18 12 40.00 39 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51640996 51640996 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 51640996 51640996 G C SNP MAGED1 ENST00000485420 human ensembl 70_37 +1 known rna NULL NULL 0.813 - - - no_errors MAGED1 HGNC ENSG00000179222 45 33 42.31 61 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51641680 51641680 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 51641680 51641680 G A SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known silent c.1953 p.V651 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 60 20 25.00 118 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51642270 51642270 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 51642270 51642270 G A SNP MAGED1 ENST00000494718 human ensembl 70_37 +1 known rna NULL NULL 0.035 - - - no_errors MAGED1 HGNC ENSG00000179222 55 43 43.43 29 0 0.00 MAGED1 9500 genome.wustl.edu 37 X 51644958 51644958 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 51644958 51644958 C T SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known missense c.2437 p.P813S 0.774 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 18 23 56.10 34 0 0.00 MAGED2 10916 genome.wustl.edu 37 X 54835684 54835684 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 X 54835684 54835684 G T SNP MAGED2 ENST00000485483 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGED2 HGNC ENSG00000102316 39 5 11.36 50 0 0.00 MAGED2 10916 genome.wustl.edu 37 X 54839587 54839587 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 54839587 54839587 G A SNP MAGED2 ENST00000218439 human ensembl 70_37 +1 known missense c.1202 p.R401H 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 68 29 29.90 137 0 0.00 MAGED2 10916 genome.wustl.edu 37 X 54841756 54841756 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 54841756 54841756 G A SNP MAGED2 ENST00000218439 human ensembl 70_37 +1 known missense c.1462 p.E488K 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 67 11 14.10 57 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75648352 75648352 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 75648352 75648352 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.29 p.R10H 0.988 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 63 8 11.27 122 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75648437 75648437 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 75648437 75648437 T C SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.114 p.A38 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 181 24 11.71 154 1 0.65 MAGEE1 57692 genome.wustl.edu 37 X 75648955 75648955 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 75648955 75648955 C T SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.632 p.S211F 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 15 5 25.00 18 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649011 75649011 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 75649011 75649011 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.688 p.E230K 0.014 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 8 4 33.33 32 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649151 75649151 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 75649151 75649151 C A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.828 p.A276 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 20 14 41.18 23 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649151 75649151 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 75649151 75649151 C A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.828 p.A276 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 27 14 34.15 50 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649186 75649186 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 75649186 75649186 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.863 p.R288H 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 34 12 26.09 61 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649207 75649207 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 75649207 75649207 C T SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.884 p.S295F 0.086 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 30 9 23.08 46 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649283 75649283 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 75649283 75649283 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.960 p.V320 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 20 6 23.08 32 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649307 75649307 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 75649307 75649307 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.984 p.L328 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 21 6 22.22 33 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75649466 75649466 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 75649466 75649466 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.1143 p.P381 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 82 18 18.00 28 0 0.00 MAGEE1 57692 genome.wustl.edu 37 X 75651040 75651040 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 75651040 75651040 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.2717 p.R906H 0.898 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 44 7 13.73 45 0 0.00 MAGEE2 139599 genome.wustl.edu 37 X 75003459 75003459 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 75003459 75003459 G A SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known silent c.1428 p.I476 0.998 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 142 46 24.47 190 0 0.00 MAGEE2 139599 genome.wustl.edu 37 X 75003785 75003785 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 75003785 75003785 G C SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known missense c.1102 p.L368V 0.990 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 25 22 46.81 52 0 0.00 MAGEE2 139599 genome.wustl.edu 37 X 75004134 75004134 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 75004134 75004134 G T SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known missense c.753 p.F251L 0.428 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 21 9 30.00 43 0 0.00 MAGEF1 64110 genome.wustl.edu 37 3 184429175 184429175 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184429175 184429175 C T SNP MAGEF1 ENST00000317897 human ensembl 70_37 -1 known silent c.435 p.L145 0.063 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEF1 HGNC ENSG00000177383 101 23 18.55 47 0 0.00 MAGEF1 64110 genome.wustl.edu 37 3 184429564 184429564 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 184429564 184429564 C T SNP MAGEF1 ENST00000317897 human ensembl 70_37 -1 known missense c.46 p.E16K 0.032 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEF1 HGNC ENSG00000177383 20 7 25.93 23 0 0.00 MAGEH1 28986 genome.wustl.edu 37 X 55479014 55479014 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 X 55479014 55479014 G A SNP MAGEH1 ENST00000342972 human ensembl 70_37 +1 known silent c.207 p.S69 0.006 pfam_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 24 18 42.86 44 0 0.00 MAGEH1 28986 genome.wustl.edu 37 X 55479285 55479285 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 55479285 55479285 G C SNP MAGEH1 ENST00000342972 human ensembl 70_37 +1 known missense c.478 p.E160Q 0.020 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 135 36 21.05 156 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23889144 23889144 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 23889144 23889144 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.1937 p.R646H 0.037 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 66 27 29.03 57 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23890185 23890185 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 15 23890185 23890185 G A SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.896 p.T299M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 45 9 16.67 49 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23890312 23890312 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 15 23890312 23890312 C A SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.769 p.A257S 0.577 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 76 75 49.67 109 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23890425 23890425 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 23890425 23890425 T C SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.656 p.Q219R 0.988 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 11 23 67.65 52 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23890640 23890640 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 23890640 23890640 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.441 p.M147I 0.998 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 19 10 34.48 44 0 0.00 MAGEL2 54551 genome.wustl.edu 37 15 23890745 23890745 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 23890745 23890745 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.336 p.M112I 0.992 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 12 11 47.83 22 0 0.00 MAGI1 9223 genome.wustl.edu 37 3 65342183 65342183 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 65342183 65342183 C G SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known missense c.4259 p.R1420T 0.002 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 176 24 11.94 239 0 0.00 MAGI1 9223 genome.wustl.edu 37 3 65365084 65365084 + Missense_Mutation SNP G G C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 3 65365084 65365084 G C SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known missense c.2847 p.S949R 0.986 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 37 25 40.32 45 0 0.00 MAGI1 9223 genome.wustl.edu 37 3 65415613 65415613 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 65415613 65415613 C T SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known silent c.1749 p.V583 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 43 22 33.85 69 0 0.00 MAGI1 9223 genome.wustl.edu 37 3 66023959 66023960 + Frame_Shift_Del DEL TC TC - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 66023959 66023960 TC - DEL MAGI1 ENST00000402939 human ensembl 70_37 -1 known frame_shift_del c.25_24 p.N9fs 1.000:1.000 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 94 62 39.74 101 0 0.00 MAGI1-IT1 151877 genome.wustl.edu 37 3 65859283 65859283 + RNA SNP A A C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 65859283 65859283 A C SNP MAGI1-IT1 ENST00000460754 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors MAGI1-IT1 HGNC ENSG00000240256 19 14 42.42 28 0 0.00 MAGI1-IT1 151877 genome.wustl.edu 37 3 65860659 65860659 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 65860659 65860659 G A SNP MAGI1-IT1 ENST00000460754 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAGI1-IT1 HGNC ENSG00000240256 10 10 50.00 17 0 0.00 MAGI2 9863 genome.wustl.edu 37 7 77789556 77789556 + Silent SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 77789556 77789556 G C SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known silent c.2631 p.G877 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 16 10 38.46 21 0 0.00 MAGI2 9863 genome.wustl.edu 37 7 77789588 77789588 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 77789588 77789588 C G SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known missense c.2599 p.E867Q 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 30 17 36.17 46 0 0.00 MAGI2 9863 genome.wustl.edu 37 7 77814979 77814979 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 77814979 77814979 G T SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known missense c.2278 p.P760T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 19 10 34.48 23 0 0.00 MAGI2 9863 genome.wustl.edu 37 7 78150813 78150813 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 78150813 78150813 C G SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known missense c.688 p.E230Q 1.000 smart_Guanylate_kin/L-typ_Ca_channel pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 94 15 13.76 71 0 0.00 MAGI2-AS3 100505881 genome.wustl.edu 37 7 79088737 79088737 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 79088737 79088737 C G SNP MAGI2-AS3 ENST00000424477 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGI2-AS3 HGNC ENSG00000234456 48 29 37.66 43 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114128120 114128120 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 114128120 114128120 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.665 p.R222Q 1.000 smart_Guanylate_kin/L-typ_Ca_channel pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 13 7 35.00 26 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114165510 114165510 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114165510 114165510 G C SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.1254 p.M418I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 33 10 23.26 81 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114165542 114165542 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 114165542 114165542 G C SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.1286 p.R429T 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 39 14 26.42 30 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114216044 114216044 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 114216044 114216044 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3146 p.R1049H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 36 8 18.18 46 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114223935 114223935 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 114223935 114223935 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3305 p.G1102E 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 93 22 19.13 122 0 0.00 MAGI3 260425 genome.wustl.edu 37 1 114224863 114224863 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 1 114224863 114224863 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3358 p.V1120M 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 26 24 48.00 38 0 0.00 MAGIX 79917 genome.wustl.edu 37 X 49022575 49022575 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 49022575 49022575 C T SNP MAGIX ENST00000412696 human ensembl 70_37 +1 known missense c.842 p.T281M 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 42 19 31.15 53 0 0.00 MAGOH 4116 genome.wustl.edu 37 1 53694605 53694605 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 53694605 53694605 C T SNP MAGOH ENST00000371470 human ensembl 70_37 -1 known missense c.280 p.D94N 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOH HGNC ENSG00000162385 38 14 26.92 50 0 0.00 MAGOHB 55110 genome.wustl.edu 37 12 10762468 10762468 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 10762468 10762468 C T SNP MAGOHB ENST00000320756 human ensembl 70_37 -1 known missense c.226 p.D76N 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 33 10 23.26 34 0 0.00 MAGOHB 55110 genome.wustl.edu 37 12 10762486 10762486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 10762486 10762486 C A SNP MAGOHB ENST00000320756 human ensembl 70_37 -1 known nonsense c.208 p.E70* 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 10 7 41.18 18 0 0.00 MAGT1 84061 genome.wustl.edu 37 X 77131014 77131014 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 77131014 77131014 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known silent c.279 p.F93 0.965 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 66 11 14.29 54 0 0.00 MAGT1 84061 genome.wustl.edu 37 X 77150816 77150816 + Missense_Mutation SNP C C A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 77150816 77150816 C A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known missense c.188 p.R63I 0.999 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 90 22 19.64 80 0 0.00 MAGT1 84061 genome.wustl.edu 37 X 77150956 77150956 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 77150956 77150956 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known silent c.48 p.L16 0.008 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 29 37 56.06 36 0 0.00 MAGT1 84061 genome.wustl.edu 37 X 77150969 77150969 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 77150969 77150969 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known missense c.35 p.S12L 0.998 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 21 17 44.74 53 0 0.00 MAK 4117 genome.wustl.edu 37 6 10763241 10763241 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 10763241 10763241 C G SNP MAK ENST00000474039 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors MAK HGNC ENSG00000111837 7 56 88.89 35 0 0.00 MAK 4117 genome.wustl.edu 37 6 10796315 10796315 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 10796315 10796315 C G SNP MAK ENST00000313243 human ensembl 70_37 -1 known silent c.1059 p.L353 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAK HGNC ENSG00000111837 98 62 38.75 172 0 0.00 MAK 4117 genome.wustl.edu 37 6 10804111 10804111 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 6 10804111 10804111 C T SNP MAK ENST00000313243 human ensembl 70_37 -1 known missense c.505 p.E169K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAK HGNC ENSG00000111837 30 6 16.22 41 0 0.00 MAK16 84549 genome.wustl.edu 37 8 33346281 33346281 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 33346281 33346281 G C SNP MAK16 ENST00000360128 human ensembl 70_37 +1 known missense c.205 p.E69Q 1.000 pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 7 15 68.18 32 0 0.00 MAK16 84549 genome.wustl.edu 37 8 33354807 33354807 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 33354807 33354807 G A SNP MAK16 ENST00000360128 human ensembl 70_37 +1 known missense c.697 p.D233N 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 39 22 36.07 73 0 0.00 MAL 4118 genome.wustl.edu 37 2 95713817 95713817 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 95713817 95713817 G A SNP MAL ENST00000309988 human ensembl 70_37 +1 known silent c.207 p.L69 0.345 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_MAL - no_errors MAL HGNC ENSG00000172005 43 20 31.75 86 0 0.00 MAL2 114569 genome.wustl.edu 37 8 120252534 120252534 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 120252534 120252534 C T SNP MAL2 ENST00000276681 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MAL2 HGNC ENSG00000147676 40 10 20.00 39 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65265397 65265397 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 65265397 65265397 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 45 27 37.50 49 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266070 65266070 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 65266070 65266070 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 79 15 15.96 75 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266394 65266394 + RNA SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 65266394 65266394 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 10 5 33.33 24 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266481 65266481 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 65266481 65266481 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 27 9 25.00 42 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266499 65266499 + RNA SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 65266499 65266499 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 27 7 20.59 40 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266569 65266569 + RNA SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 65266569 65266569 G C SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 11 5 31.25 19 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266716 65266716 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65266716 65266716 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 65 31 32.29 55 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65266950 65266950 + RNA SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 65266950 65266950 G C SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 22 19 46.34 73 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65268480 65268480 + RNA DEL T T - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 65268480 65268480 T - DEL MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 23 5 17.86 35 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65268741 65268742 + RNA INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 65268741 65268742 - C INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 34 22 39.29 27 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65268741 65268742 + RNA INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 65268741 65268742 - C INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 50 14 21.88 80 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65268821 65268821 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65268821 65268821 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.615 - - - no_errors MALAT1 HGNC ENSG00000251562 24 7 22.58 50 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65269862 65269862 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65269862 65269862 C G SNP MALAT1 ENST00000508832 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 10 9 47.37 23 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65270585 65270585 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65270585 65270585 C T SNP MALAT1 ENST00000508832 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 28 12 30.00 60 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271372 65271372 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65271372 65271372 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 14 4 22.22 23 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271612 65271612 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65271612 65271612 C A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 20 5 20.00 19 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271780 65271780 + RNA DEL T T - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 65271780 65271780 T - DEL MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors MALAT1 HGNC ENSG00000251562 8 3 27.27 29 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271870 65271870 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 65271870 65271870 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.628 - - - no_errors MALAT1 HGNC ENSG00000251562 30 9 23.08 36 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271929 65271929 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65271929 65271929 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.313 - - - no_errors MALAT1 HGNC ENSG00000251562 28 8 22.22 53 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65271994 65271994 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65271994 65271994 G C SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 64 12 15.79 64 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65272219 65272219 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65272219 65272219 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 27 6 18.18 66 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65272311 65272311 + RNA SNP T T A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 65272311 65272311 T A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 58 39 40.21 82 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65272527 65272527 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65272527 65272527 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors MALAT1 HGNC ENSG00000251562 26 5 16.13 32 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65273023 65273023 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65273023 65273023 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 12 4 25.00 22 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65273470 65273470 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65273470 65273470 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.638 - - - no_errors MALAT1 HGNC ENSG00000251562 20 12 37.50 43 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65273634 65273635 + RNA INS - - CTG TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 65273634 65273635 - CTG INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 40 28 41.18 56 0 0.00 MALAT1 378938 genome.wustl.edu 37 11 65273653 65273653 + RNA SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 65273653 65273653 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors MALAT1 HGNC ENSG00000251562 58 57 49.57 55 0 0.00 MALT1 10892 genome.wustl.edu 37 18 56401561 56401561 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 56401561 56401561 C G SNP MALT1 ENST00000348428 human ensembl 70_37 +1 known missense c.1423 p.P475A 0.998 pfam_Pept_C14_cat pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like - no_errors MALT1 HGNC ENSG00000172175 26 10 27.78 49 0 0.00 MAMDC2 256691 genome.wustl.edu 37 9 72727910 72727910 + Splice_Site SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 72727910 72727910 G A SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known splice_site c.506-1 e5-1 1.000 - - - no_errors MAMDC2 HGNC ENSG00000165072 40 20 33.33 81 0 0.00 MAMDC2 256691 genome.wustl.edu 37 9 72741133 72741133 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 72741133 72741133 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known silent c.702 p.L234 0.995 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 49 61 55.45 70 0 0.00 MAMDC2 256691 genome.wustl.edu 37 9 72741174 72741174 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 72741174 72741174 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known nonsense c.743 p.S248* 0.993 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 49 11 18.33 42 0 0.00 MAMDC2 256691 genome.wustl.edu 37 9 72840732 72840732 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 72840732 72840732 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known missense c.1978 p.Q660E 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 33 16 32.65 54 0 0.00 MAMDC4 158056 genome.wustl.edu 37 9 139754394 139754394 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139754394 139754394 C G SNP MAMDC4 ENST00000445819 human ensembl 70_37 +1 known missense c.3487 p.L1163V 0.000 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom - no_errors MAMDC4 HGNC ENSG00000177943 54 19 26.03 30 0 0.00 MAML1 9794 genome.wustl.edu 37 5 179193509 179193509 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 179193509 179193509 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known missense c.1498 p.Q500E 0.997 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 12 18 60.00 42 0 0.00 MAML1 9794 genome.wustl.edu 37 5 179201031 179201031 + Nonsense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179201031 179201031 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known nonsense c.2204 p.S735* 0.250 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 28 37 56.92 103 0 0.00 MAML1 9794 genome.wustl.edu 37 5 179201368 179201368 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179201368 179201368 C T SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known silent c.2541 p.L847 0.980 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 26 35 57.38 143 0 0.00 MAML1 9794 genome.wustl.edu 37 5 179201801 179201801 + Missense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 179201801 179201801 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known missense c.2974 p.L992V 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 26 13 33.33 47 0 0.00 MAML1 9794 genome.wustl.edu 37 5 179221048 179221048 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 179221048 179221048 C T SNP MAML1 ENST00000503050 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAML1 HGNC ENSG00000161021 85 28 24.78 78 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95718733 95718733 + Frame_Shift_Del DEL C C - TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 95718733 95718733 C - DEL MAML2 ENST00000440572 human ensembl 70_37 -1 known frame_shift_del c.2417 p.R806fs 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 39 26 40.00 86 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95724713 95724713 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 95724713 95724713 G A SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known missense c.2314 p.L772F 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 51 20 28.17 54 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95825167 95825167 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 95825167 95825167 G T SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known missense c.2028 p.S676R 0.849 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 35 4 10.26 31 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95825372 95825374 + In_Frame_Del DEL TGT TGT - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 11 95825372 95825374 TGT - DEL MAML2 ENST00000440572 human ensembl 70_37 -1 known in_frame_del c.1823_1821 p.Q611in_frame_del 0.003:0.003:0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 63 10 13.70 87 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95825810 95825810 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 95825810 95825810 G C SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known nonsense c.1385 p.S462* 0.477 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 15 6 28.57 21 0 0.00 MAML2 84441 genome.wustl.edu 37 11 95826265 95826265 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 95826265 95826265 G A SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known silent c.930 p.F310 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 71 43 37.72 114 0 0.00 MAML3 55534 genome.wustl.edu 37 4 140640513 140640513 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 140640513 140640513 C G SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.3381 p.W1127C 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 29 11 27.50 44 0 0.00 MAML3 55534 genome.wustl.edu 37 4 140811335 140811335 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 140811335 140811335 G C SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.1255 p.Q419E 0.998 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 39 15 27.78 32 0 0.00 MAML3 55534 genome.wustl.edu 37 4 140811981 140811981 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 140811981 140811981 G C SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.609 p.I203M 0.997 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 30 29 49.15 47 0 0.00 MAMLD1 10046 genome.wustl.edu 37 X 149638143 149638143 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149638143 149638143 C G SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.223 p.H75D 0.460 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 25 11 30.56 35 0 0.00 MAMLD1 10046 genome.wustl.edu 37 X 149638349 149638349 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 149638349 149638349 C T SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known silent c.429 p.S143 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 29 6 16.67 35 0 0.00 MAMLD1 10046 genome.wustl.edu 37 X 149680410 149680410 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 149680410 149680410 G C SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.2064 p.Q688H 0.126 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 20 62 75.61 53 0 0.00 MAMLD1 10046 genome.wustl.edu 37 X 149680843 149680843 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 149680843 149680843 C A SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.2497 p.Q833K 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 104 24 18.60 129 0 0.00 MAN1A1 4121 genome.wustl.edu 37 6 119525929 119525929 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 119525929 119525929 C T SNP MAN1A1 ENST00000368468 human ensembl 70_37 -1 known missense c.1111 p.E371K 0.998 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 23 25 52.08 44 0 0.00 MAN1A2 10905 genome.wustl.edu 37 1 117910706 117910706 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 117910706 117910706 G A SNP MAN1A2 ENST00000482811 human ensembl 70_37 +1 known rna NULL NULL 0.743 - - - no_errors MAN1A2 HGNC ENSG00000198162 13 9 40.91 19 0 0.00 MAN1A2 10905 genome.wustl.edu 37 1 117911031 117911031 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 117911031 117911031 C T SNP MAN1A2 ENST00000356554 human ensembl 70_37 +1 known missense c.226 p.P76S 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 98 49 33.33 131 0 0.00 MAN1B1 11253 genome.wustl.edu 37 9 139994205 139994205 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 139994205 139994205 G A SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.788 p.G263E 0.997 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 32 19 37.25 41 0 0.00 MAN1B1 11253 genome.wustl.edu 37 9 139994210 139994210 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 139994210 139994210 C T SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.793 p.R265C 0.996 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 61 19 23.75 97 0 0.00 MAN1B1 11253 genome.wustl.edu 37 9 139998224 139998224 + RNA SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139998224 139998224 A G SNP MAN1B1 ENST00000540391 human ensembl 70_37 +1 known rna NULL NULL 0.570 - - - no_errors MAN1B1 HGNC ENSG00000177239 52 11 17.46 36 0 0.00 MAN1B1 11253 genome.wustl.edu 37 9 139998618 139998618 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139998618 139998618 C A SNP MAN1B1 ENST00000540391 human ensembl 70_37 +1 known rna NULL NULL 0.621 - - - no_errors MAN1B1 HGNC ENSG00000177239 9 5 35.71 17 0 0.00 MAN1B1 11253 genome.wustl.edu 37 9 140002950 140002950 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 140002950 140002950 C G SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.2007 p.F669L 0.981 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 26 6 18.75 48 0 0.00 MAN1C1 57134 genome.wustl.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 25944781 25944781 C T SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known nonsense c.493 p.Q165* 0.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 40 13 24.53 75 0 0.00 MAN1C1 57134 genome.wustl.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 25944781 25944781 C T SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known nonsense c.493 p.Q165* 0.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 44 5 10.20 59 0 0.00 MAN1C1 57134 genome.wustl.edu 37 1 26098186 26098186 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 26098186 26098186 G C SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known missense c.1180 p.E394Q 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 55 33 37.50 57 0 0.00 MAN2A1 4124 genome.wustl.edu 37 5 109110547 109110547 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 109110547 109110547 C T SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1255 p.L419F 0.885 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 32 12 27.27 40 0 0.00 MAN2A1 4124 genome.wustl.edu 37 5 109110644 109110644 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 109110644 109110644 C A SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1352 p.S451Y 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 15 7 31.82 46 0 0.00 MAN2A1 4124 genome.wustl.edu 37 5 109117292 109117292 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 109117292 109117292 C T SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1570 p.H524Y 0.067 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 18 13 41.94 35 0 0.00 MAN2A2 4122 genome.wustl.edu 37 15 91448606 91448606 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 91448606 91448606 C A SNP MAN2A2 ENST00000360468 human ensembl 70_37 +1 known silent c.258 p.P86 0.095 NULL pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 34 5 12.50 28 0 0.00 MAN2B1 4125 genome.wustl.edu 37 19 12758053 12758053 + Missense_Mutation SNP T T G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12758053 12758053 T G SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2917 p.N973H 0.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 56 19 25.33 52 0 0.00 MAN2B1 4125 genome.wustl.edu 37 19 12758083 12758083 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12758083 12758083 C T SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2887 p.E963K 0.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 58 20 25.64 52 0 0.00 MAN2B1 4125 genome.wustl.edu 37 19 12758139 12758139 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12758139 12758139 G C SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2831 p.S944C 0.998 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 31 25 44.64 60 0 0.00 MAN2B1 4125 genome.wustl.edu 37 19 12766654 12766654 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12766654 12766654 G A SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.1684 p.P562S 0.012 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 25 11 30.56 50 0 0.00 MAN2B2 23324 genome.wustl.edu 37 4 6596327 6596327 + Missense_Mutation SNP A A T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 6596327 6596327 A T SNP MAN2B2 ENST00000285599 human ensembl 70_37 +1 known missense c.925 p.I309F 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 7 11 61.11 60 0 0.00 MAN2B2 23324 genome.wustl.edu 37 4 6611729 6611729 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6611729 6611729 G C SNP MAN2B2 ENST00000285599 human ensembl 70_37 +1 known missense c.2211 p.Q737H 1.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 31 25 44.64 92 0 0.00 MAN2C1 4123 genome.wustl.edu 37 15 75648960 75648960 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 75648960 75648960 C T SNP MAN2C1 ENST00000267978 human ensembl 70_37 -1 known silent c.2724 p.L908 0.982 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 32 4 11.11 45 0 0.00 MANBA 4126 genome.wustl.edu 37 4 103579009 103579009 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 103579009 103579009 C T SNP MANBA ENST00000226578 human ensembl 70_37 -1 known missense c.1534 p.E512K 0.218 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 94 30 24.19 133 1 0.75 MANBA 4126 genome.wustl.edu 37 4 103610745 103610745 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 103610745 103610745 C A SNP MANBA ENST00000226578 human ensembl 70_37 -1 known nonsense c.946 p.E316* 0.763 superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 100 24 19.35 122 0 0.00 MANEA 79694 genome.wustl.edu 37 6 96034516 96034516 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 96034516 96034516 C T SNP MANEA ENST00000358812 human ensembl 70_37 +1 known silent c.201 p.I67 0.002 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 62 42 40.38 73 0 0.00 MANEAL 149175 genome.wustl.edu 37 1 38265771 38265771 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 38265771 38265771 C T SNP MANEAL ENST00000373045 human ensembl 70_37 +1 known missense c.1270 p.R424C 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 17 23 57.50 39 0 0.00 MANF 7873 genome.wustl.edu 37 3 51423719 51423719 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51423719 51423719 G C SNP MANF ENST00000528157 human ensembl 70_37 +1 known missense c.175 p.E59Q 1.000 pfam_Armet_prot,superfamily_Saposin-like pfam_Armet_prot,superfamily_Saposin-like - no_errors MANF HGNC ENSG00000145050 22 23 51.11 42 0 0.00 MANSC1 54682 genome.wustl.edu 37 12 12491469 12491469 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 12491469 12491469 G C SNP MANSC1 ENST00000535902 human ensembl 70_37 -1 known missense c.249 p.I83M 1.000 pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 75 31 29.25 81 0 0.00 MAOA 4128 genome.wustl.edu 37 X 43515648 43515648 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 43515648 43515648 G A SNP MAOA ENST00000338702 human ensembl 70_37 +1 known missense c.59 p.G20E 1.000 pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 81 19 19.00 121 0 0.00 MAOB 4129 genome.wustl.edu 37 X 43654997 43654997 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 43654997 43654997 C G SNP MAOB ENST00000378069 human ensembl 70_37 -1 known missense c.757 p.E253Q 0.996 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 66 14 17.50 71 0 0.00 MAOB 4129 genome.wustl.edu 37 X 43698137 43698137 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 43698137 43698137 C T SNP MAOB ENST00000378069 human ensembl 70_37 -1 known missense c.256 p.E86K 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 20 12 37.50 34 0 0.00 MAOB 4129 genome.wustl.edu 37 X 43698186 43698186 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 43698186 43698186 C G SNP MAOB ENST00000378069 human ensembl 70_37 -1 known missense c.207 p.L69F 0.995 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 28 22 44.00 36 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43813195 43813195 + Nonsense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43813195 43813195 C G SNP MAP1A ENST00000382031 human ensembl 70_37 +1 novel nonsense c.449 p.S150* 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 28 11 28.21 23 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43813622 43813622 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 43813622 43813622 C T SNP MAP1A ENST00000382031 human ensembl 70_37 +1 novel missense c.665 p.S222F 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 17 4 19.05 16 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43813757 43813757 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43813757 43813757 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.86 p.S29L 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 17 12 41.38 22 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43814640 43814640 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43814640 43814640 C G SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known silent c.969 p.L323 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 42 13 22.81 47 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43814937 43814937 + Missense_Mutation SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 43814937 43814937 G C SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1266 p.E422D 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 12 4 25.00 13 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43814952 43814952 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43814952 43814952 G T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1281 p.R427S 0.998 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 11 6 35.29 24 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43815050 43815050 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43815050 43815050 C G SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1379 p.S460C 0.971 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 15 14 48.28 30 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43815178 43815178 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 43815178 43815178 C A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1507 p.Q503K 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 35 4 10.00 65 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43815251 43815251 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43815251 43815251 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1580 p.S527L 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 29 27 48.21 46 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43815649 43815649 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43815649 43815649 G C SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1978 p.E660Q 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 33 7 17.50 57 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43816925 43816925 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 43816925 43816925 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.3254 p.G1085D 0.832 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 25 13 34.21 22 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43817734 43817734 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43817734 43817734 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.4063 p.E1355K 0.998 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 26 14 35.00 39 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43817874 43817874 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 43817874 43817874 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known silent c.4203 p.V1401 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 34 7 17.07 30 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43821015 43821015 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 43821015 43821015 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known silent c.7344 p.L2448 0.996 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 18 12 40.00 53 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43821253 43821253 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43821253 43821253 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.7582 p.E2528K 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 55 33 37.50 52 0 0.00 MAP1A 4130 genome.wustl.edu 37 15 43821418 43821418 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 43821418 43821418 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.7747 p.E2583K 0.998 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 10 19 65.52 26 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71411577 71411577 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 71411577 71411577 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.237 p.L79 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 58 8 12.12 71 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71411577 71411577 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 71411577 71411577 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.237 p.L79 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 42 33 44.00 85 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71490611 71490611 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71490611 71490611 C A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.1429 p.P477T 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 30 9 23.08 31 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71490899 71490899 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71490899 71490899 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.1717 p.H573D 0.749 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 19 4 17.39 17 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71491138 71491138 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 71491138 71491138 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.1956 p.E652 0.994 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 33 7 17.50 30 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71491642 71491642 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71491642 71491642 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.2460 p.A820 0.941 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 43 17 28.33 49 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71491658 71491658 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 71491658 71491658 G C SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.2476 p.E826Q 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 37 18 32.73 45 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71493006 71493006 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 71493006 71493006 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3824 p.R1275H 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 24 16 40.00 37 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71493006 71493006 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 71493006 71493006 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3824 p.R1275H 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 30 16 34.78 72 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71493117 71493117 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 71493117 71493117 G T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3935 p.S1312I 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 17 4 19.05 54 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71493364 71493364 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 71493364 71493364 T G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.4182 p.V1394 0.021 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 11 3 20.00 26 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71494088 71494088 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 71494088 71494088 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known nonsense c.4906 p.Q1636* 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 111 25 18.38 143 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71495218 71495218 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 71495218 71495218 G T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.6036 p.E2012D 1.000 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 8 6 42.86 12 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71495568 71495568 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 71495568 71495568 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.6386 p.A2129V 0.952 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 23 4 14.81 36 0 0.00 MAP1B 4131 genome.wustl.edu 37 5 71496106 71496106 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 71496106 71496106 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.6924 p.V2308 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 15 13 46.43 22 0 0.00 MAP1LC3A 84557 genome.wustl.edu 37 20 33147542 33147542 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33147542 33147542 G A SNP MAP1LC3A ENST00000360668 human ensembl 70_37 +1 known missense c.206 p.R69H 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3A HGNC ENSG00000101460 156 43 21.18 247 0 0.00 MAP1LC3A 84557 genome.wustl.edu 37 20 33147555 33147555 + Silent SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 33147555 33147555 G C SNP MAP1LC3A ENST00000360668 human ensembl 70_37 +1 known silent c.219 p.L73 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3A HGNC ENSG00000101460 31 12 27.91 16 0 0.00 MAP1LC3A 84557 genome.wustl.edu 37 20 33147998 33147998 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 33147998 33147998 G A SNP MAP1LC3A ENST00000476428 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors MAP1LC3A HGNC ENSG00000101460 11 6 35.29 21 0 0.00 MAP1LC3B 81631 genome.wustl.edu 37 16 87436639 87436640 + Frame_Shift_Ins INS - - AG TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 16 87436639 87436640 - AG INS MAP1LC3B ENST00000268607 human ensembl 70_37 +1 known frame_shift_ins c.314_315 p.D106fs 0.996:0.674 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3B HGNC ENSG00000140941 51 21 29.17 73 0 0.00 MAP1LC3C 440738 genome.wustl.edu 37 1 242162308 242162308 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 242162308 242162308 C T SNP MAP1LC3C ENST00000357246 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3C HGNC ENSG00000197769 13 6 31.58 20 0 0.00 MAP1S 55201 genome.wustl.edu 37 19 17836950 17836950 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 17836950 17836950 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known missense c.757 p.A253T 0.752 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 17 2 10.53 11 0 0.00 MAP1S 55201 genome.wustl.edu 37 19 17838081 17838081 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 17838081 17838081 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known missense c.1888 p.A630T 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 6 7 53.85 19 0 0.00 MAP1S 55201 genome.wustl.edu 37 19 17838524 17838524 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17838524 17838524 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known silent c.2331 p.L777 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 6 2 25.00 12 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210517948 210517948 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 210517948 210517948 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.54 p.P18 0.012 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 40 21 34.43 58 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210543385 210543385 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 210543385 210543385 G C SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.352 p.D118H 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 1 8 88.89 49 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210557519 210557519 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 210557519 210557519 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.625 p.D209N 0.006 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 29 19 39.58 53 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210557640 210557640 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 210557640 210557640 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.746 p.G249V 0.571 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 20 3 12.50 37 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210558119 210558119 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 210558119 210558119 G C SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.1225 p.E409Q 0.001 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 14 9 39.13 19 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210559516 210559516 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 210559516 210559516 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.2622 p.K874N 0.988 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 18 3 14.29 50 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210559578 210559578 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 210559578 210559578 C T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.2684 p.T895I 0.984 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 20 11 35.48 50 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210561040 210561040 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 210561040 210561040 C G SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.4146 p.I1382M 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 4 8 66.67 12 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210561651 210561651 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 210561651 210561651 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.4398 p.K1466 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 56 8 12.50 46 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210561658 210561658 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 210561658 210561658 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.4405 p.E1469K 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 55 8 12.70 43 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210594630 210594630 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 210594630 210594630 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.5212 p.A1738S 1.000 pfam_Tau/MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 40 12 23.08 77 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210594923 210594923 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 210594923 210594923 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.5286 p.L1762 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 23 8 25.81 26 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210594966 210594966 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 210594966 210594966 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known nonsense c.5329 p.E1777* 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 28 13 31.71 38 0 0.00 MAP2 4133 genome.wustl.edu 37 2 210594968 210594968 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 210594968 210594968 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.5331 p.E1777 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 55 13 19.12 72 0 0.00 MAP2K1 5604 genome.wustl.edu 37 15 66727561 66727561 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 15 66727561 66727561 G T SNP MAP2K1 ENST00000307102 human ensembl 70_37 +1 known missense c.277 p.V93F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 34 5 12.82 46 0 0.00 MAP2K1 5604 genome.wustl.edu 37 15 66782079 66782079 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 66782079 66782079 G A SNP MAP2K1 ENST00000307102 human ensembl 70_37 +1 known missense c.1046 p.R349K 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 43 16 27.12 76 0 0.00 MAP2K2 5605 genome.wustl.edu 37 19 4099776 4099776 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 4099776 4099776 C T SNP MAP2K2 ENST00000595715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP2K2 HGNC ENSG00000126934 31 25 44.64 42 0 0.00 MAP2K3 5606 genome.wustl.edu 37 17 21201725 21201725 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 21201725 21201725 G C SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known missense c.50 p.G17A 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC ENSG00000034152 83 28 25.23 76 0 0.00 MAP2K3 5606 genome.wustl.edu 37 17 21215457 21215457 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 21215457 21215457 G C SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known missense c.778 p.E260Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC ENSG00000034152 154 21 12.00 173 0 0.00 MAP2K3 5606 genome.wustl.edu 37 17 21215501 21215501 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 21215501 21215501 G A SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known silent c.822 p.P274 0.016 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC ENSG00000034152 140 19 11.95 169 0 0.00 MAP2K4 6416 genome.wustl.edu 37 17 11984676 11984676 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 11984676 11984676 G A SNP MAP2K4 ENST00000415385 human ensembl 70_37 +1 known silent c.255 p.E85 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 17 14 45.16 36 0 0.00 MAP2K5 5607 genome.wustl.edu 37 15 67838612 67838612 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 67838612 67838612 G T SNP MAP2K5 ENST00000560086 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAP2K5 HGNC ENSG00000137764 36 4 10.00 33 0 0.00 MAP2K7 5609 genome.wustl.edu 37 19 7975365 7975365 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 7975365 7975365 G A SNP MAP2K7 ENST00000545011 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K7 HGNC ENSG00000076984 44 40 47.06 47 0 0.00 MAP2K7 5609 genome.wustl.edu 37 19 7977052 7977052 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7977052 7977052 G A SNP MAP2K7 ENST00000545011 human ensembl 70_37 +1 known silent c.1224 p.R408 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K7 HGNC ENSG00000076984 24 15 38.46 68 0 0.00 MAP3K1 4214 genome.wustl.edu 37 5 56155681 56155681 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 56155681 56155681 C T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.773 p.S258L 0.915 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 21 18 46.15 33 0 0.00 MAP3K1 4214 genome.wustl.edu 37 5 56174810 56174810 + Missense_Mutation SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 56174810 56174810 A G SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.1969 p.T657A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 16 3 15.79 32 0 0.00 MAP3K1 4214 genome.wustl.edu 37 5 56177460 56177460 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 56177460 56177460 G T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.2433 p.M811I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 17 3 15.00 34 0 0.00 MAP3K1 4214 genome.wustl.edu 37 5 56177814 56177814 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 56177814 56177814 G A SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel silent c.2787 p.E929 0.992 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 40 12 23.08 49 0 0.00 MAP3K1 4214 genome.wustl.edu 37 5 56184171 56184171 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 56184171 56184171 C T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.4376 p.A1459V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 29 5 14.71 45 0 0.00 MAP3K10 4294 genome.wustl.edu 37 19 40698214 40698214 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40698214 40698214 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.276 p.E92 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 13 11 45.83 28 0 0.00 MAP3K10 4294 genome.wustl.edu 37 19 40698542 40698542 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40698542 40698542 C G SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known missense c.604 p.Q202E 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 39 34 46.58 55 0 0.00 MAP3K10 4294 genome.wustl.edu 37 19 40710431 40710431 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 40710431 40710431 C T SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.903 p.V301 0.998 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 57 12 17.39 57 0 0.00 MAP3K10 4294 genome.wustl.edu 37 19 40711973 40711973 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 40711973 40711973 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.1344 p.E448 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 166 21 11.17 65 0 0.00 MAP3K10 4294 genome.wustl.edu 37 19 40720877 40720877 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 40720877 40720877 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known missense c.2543 p.G848D 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 48 12 20.00 52 0 0.00 MAP3K11 4296 genome.wustl.edu 37 11 65375232 65375232 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 65375232 65375232 C T SNP MAP3K11 ENST00000309100 human ensembl 70_37 -1 known silent c.1125 p.Q375 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K11 HGNC ENSG00000173327 45 33 42.31 39 0 0.00 MAP3K12 7786 genome.wustl.edu 37 12 53875770 53875770 + Frame_Shift_Del DEL T T - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 53875770 53875770 T - DEL MAP3K12 ENST00000267079 human ensembl 70_37 -1 known frame_shift_del c.2436 p.E812fs 0.726 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 85 17 16.67 82 0 0.00 MAP3K12 7786 genome.wustl.edu 37 12 53875771 53875771 + Missense_Mutation SNP T T G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 53875771 53875771 T G SNP MAP3K12 ENST00000267079 human ensembl 70_37 -1 known missense c.2435 p.E812A 0.722 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 86 17 16.50 82 0 0.00 MAP3K12 7786 genome.wustl.edu 37 12 53880774 53880774 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53880774 53880774 C T SNP MAP3K12 ENST00000267079 human ensembl 70_37 -1 known missense c.303 p.M101I 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 24 18 42.86 35 0 0.00 MAP3K13 9175 genome.wustl.edu 37 3 185191432 185191432 + Missense_Mutation SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 185191432 185191432 G C SNP MAP3K13 ENST00000265026 human ensembl 70_37 +1 known missense c.2313 p.Q771H 0.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 645 85 11.61 251 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43340693 43340693 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43340693 43340693 T C SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 4 4 50.00 17 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43340706 43340706 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 43340706 43340706 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MAP3K14 HGNC ENSG00000006062 12 14 53.85 24 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43341844 43341844 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 43341844 43341844 C T SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 16 5 23.81 16 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43348487 43348487 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 43348487 43348487 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 27 16 37.21 30 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43350897 43350897 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43350897 43350897 C G SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.610 - - - no_errors MAP3K14 HGNC ENSG00000006062 44 20 31.25 36 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43351847 43351847 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 43351847 43351847 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 28 6 17.65 41 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43351847 43351847 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 43351847 43351847 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 35 9 20.45 34 0 0.00 MAP3K14 9020 genome.wustl.edu 37 17 43362246 43362246 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 43362246 43362246 C G SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 27 23 46.00 31 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19378902 19378902 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 19378902 19378902 C T SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.3907 p.A1303T 0.000 superfamily_SAM/pointed pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 44 32 42.11 59 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19391729 19391729 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 19391729 19391729 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.2858 p.P953L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 38 28 42.42 50 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19392605 19392605 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 19392605 19392605 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known silent c.2763 p.F921 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 54 6 10.00 53 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19392605 19392605 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 19392605 19392605 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known silent c.2763 p.F921 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 74 12 13.95 59 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19418717 19418717 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 19418717 19418717 C G SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.980 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 45 28 38.36 60 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19418734 19418734 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 19418734 19418734 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1892 p.T631M 0.060 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 26 29 52.73 67 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19449566 19449566 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 19449566 19449566 C T SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1156 p.A386T 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 27 18 40.00 59 0 0.00 MAP3K15 389840 genome.wustl.edu 37 X 19482436 19482436 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 19482436 19482436 G T SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.614 p.A205D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 48 10 17.24 81 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135738524 135738524 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 135738524 135738524 C T SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.3787 p.G1263R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 20 12 37.50 39 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135738750 135738750 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 135738750 135738750 G C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.3561 p.I1187M 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 91 34 27.20 73 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135738993 135738993 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135738993 135738993 C G SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known silent c.3318 p.R1106 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 20 18 47.37 36 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135743751 135743751 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135743751 135743751 T C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known silent c.2691 p.S897 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 29 14 32.56 79 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135744028 135744028 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135744028 135744028 G C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known nonsense c.2414 p.S805* 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 23 17 42.50 51 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135745585 135745585 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 135745585 135745585 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.857 p.S286L 0.983 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 16 8 33.33 33 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135756394 135756394 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135756394 135756394 C A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.488 p.R163I 0.835 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 7 3 30.00 29 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135756518 135756518 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 135756518 135756518 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.364 p.H122Y 0.658 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 26 3 10.34 44 0 0.00 MAP3K19 80122 genome.wustl.edu 37 2 135756556 135756556 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 135756556 135756556 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.326 p.S109L 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC ENSG00000176601 70 16 18.60 99 0 0.00 MAP3K2 10746 genome.wustl.edu 37 2 128088060 128088060 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128088060 128088060 G A SNP MAP3K2 ENST00000344908 human ensembl 70_37 -1 known nonsense c.286 p.Q96* 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K2 HGNC ENSG00000169967 43 11 20.37 48 0 0.00 MAP3K3 4215 genome.wustl.edu 37 17 61771015 61771015 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61771015 61771015 C A SNP MAP3K3 ENST00000361357 human ensembl 70_37 +1 known missense c.1852 p.Q618K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 47 26 35.62 45 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161470014 161470014 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 6 161470014 161470014 C T SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.710 p.S237L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 4 17 80.95 29 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161470031 161470031 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161470031 161470031 G T SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.727 p.D243Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 10 5 33.33 14 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161491789 161491789 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 161491789 161491789 C T SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known silent c.1857 p.L619 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 20 21 51.22 74 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161512528 161512528 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 161512528 161512528 T C SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3091 p.Y1031H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 137 34 19.88 174 1 0.57 MAP3K4 4216 genome.wustl.edu 37 6 161512528 161512528 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 161512528 161512528 T C SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3091 p.Y1031H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 51 7 12.07 25 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161519323 161519323 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 161519323 161519323 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3538 p.P1180A 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 38 16 29.09 40 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161519351 161519353 + In_Frame_Del DEL CTG CTG - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 161519351 161519353 CTG - DEL MAP3K4 ENST00000392142 human ensembl 70_37 +1 known in_frame_del c.3566_3568 p.A1193in_frame_del 0.857:0.937:0.950 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 75 22 22.68 173 1 0.57 MAP3K4 4216 genome.wustl.edu 37 6 161527647 161527647 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 161527647 161527647 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3958 p.Q1320E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 51 13 20.31 62 0 0.00 MAP3K4 4216 genome.wustl.edu 37 6 161532882 161532882 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 161532882 161532882 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.4411 p.L1471V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 53 40 43.01 116 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136888803 136888803 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 136888803 136888803 C T SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.3727 p.V1243I 0.665 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 31 12 27.91 53 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136923055 136923055 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 136923055 136923055 G C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2742 p.F914L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 21 17 44.74 20 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136932511 136932511 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136932511 136932511 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2430 p.L810F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 58 20 25.64 60 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136934374 136934374 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 136934374 136934374 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2299 p.R767C 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 21 25 54.35 45 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136934380 136934380 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 136934380 136934380 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2293 p.L765F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 64 20 23.81 82 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136960681 136960681 + Frame_Shift_Del DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 136960681 136960681 T - DEL MAP3K5 ENST00000359015 human ensembl 70_37 -1 known frame_shift_del c.1934 p.K645fs 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 4 2 33.33 26 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 136960726 136960726 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 136960726 136960726 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.1889 p.S630F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 8 5 38.46 37 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 137026254 137026254 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 137026254 137026254 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.606 p.K202N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 230 44 16.00 208 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 137041602 137041602 G C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.574 p.L192V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 24 42 63.64 98 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 137041623 137041623 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 137041623 137041623 A C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.553 p.C185G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 28 17 37.78 89 0 0.00 MAP3K5 4217 genome.wustl.edu 37 6 137112890 137112890 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 137112890 137112890 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.406 p.D136H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 61 35 36.46 46 0 0.00 MAP3K6 9064 genome.wustl.edu 37 1 27683127 27683127 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27683127 27683127 C T SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3478 p.A1160T 0.073 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 32 7 17.95 46 0 0.00 MAP3K6 9064 genome.wustl.edu 37 1 27683547 27683547 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 27683547 27683547 G A SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3317 p.S1106L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 41 44 51.76 47 0 0.00 MAP3K6 9064 genome.wustl.edu 37 1 27684232 27684232 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 27684232 27684232 C G SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3051 p.E1017D 0.091 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 17 6 26.09 14 0 0.00 MAP3K6 9064 genome.wustl.edu 37 1 27684232 27684232 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 1 27684232 27684232 C G SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3051 p.E1017D 0.091 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 35 19 35.19 19 0 0.00 MAP3K6 9064 genome.wustl.edu 37 1 27690446 27690446 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27690446 27690446 T A SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.826 p.I276F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 36 13 26.53 113 0 0.00 MAP3K7 6885 genome.wustl.edu 37 6 91225676 91225676 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 91225676 91225676 C T SNP MAP3K7 ENST00000479630 human ensembl 70_37 -1 known rna NULL NULL 0.811 - - - no_errors MAP3K7 HGNC ENSG00000135341 25 9 26.47 47 0 0.00 MAP3K7 6885 genome.wustl.edu 37 6 91254329 91254329 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 91254329 91254329 G A SNP MAP3K7 ENST00000369329 human ensembl 70_37 -1 known silent c.1233 p.G411 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K7 HGNC ENSG00000135341 19 9 32.14 32 0 0.00 MAP3K8 1326 genome.wustl.edu 37 10 30748220 30748220 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 30748220 30748220 G C SNP MAP3K8 ENST00000263056 human ensembl 70_37 +1 known missense c.1063 p.D355H 0.017 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K8 HGNC ENSG00000107968 85 24 22.02 119 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71197275 71197275 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 71197275 71197275 C T SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.3179 p.R1060Q 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 67 20 22.99 51 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71197432 71197432 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 14 71197432 71197432 G A SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.3022 p.R1008W 0.953 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 62 7 10.14 49 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71199564 71199564 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 71199564 71199564 G C SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.2564 p.S855C 0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 43 23 34.85 73 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71215635 71215635 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 71215635 71215635 C G SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.1237 p.E413Q 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 46 7 13.21 80 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71267429 71267429 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 71267429 71267429 C T SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 123 65 34.57 213 0 0.00 MAP3K9 4293 genome.wustl.edu 37 14 71267556 71267556 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 71267556 71267556 G C SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known silent c.648 p.L216 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 20 36 64.29 55 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47896844 47896844 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 47896844 47896844 C T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.3155 p.G1052E 1.000 pfam_Tau/MAP_tubulin-bd_rpt pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 21 14 40.00 27 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47910709 47910709 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 47910709 47910709 C A SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.2968 p.G990W 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 29 5 14.71 64 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47950973 47950973 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 47950973 47950973 G A SNP MAP4 ENST00000264724 human ensembl 70_37 -1 known silent c.759 p.S253 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 17 9 33.33 21 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47953286 47953286 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 47953286 47953286 C T SNP MAP4 ENST00000426837 human ensembl 70_37 -1 putative silent c.2676 p.L892 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 24 27 52.94 44 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47956424 47956424 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 47956424 47956424 C T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.1882 p.V628I 0.021 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 37 6 13.95 56 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47958076 47958076 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 47958076 47958076 G A SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.1241 p.S414L 0.153 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 10 25 71.43 77 0 0.00 MAP4 4134 genome.wustl.edu 37 3 47963325 47963325 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 47963325 47963325 G T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known silent c.459 p.V153 0.956 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 27 12 30.77 44 0 0.00 MAP4K1 11184 genome.wustl.edu 37 19 39086603 39086603 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 39086603 39086603 C G SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known missense c.2155 p.D719H 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 39 7 15.22 12 0 0.00 MAP4K1 11184 genome.wustl.edu 37 19 39096337 39096337 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 39096337 39096337 C T SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known missense c.1234 p.G412R 0.354 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 36 15 29.41 62 0 0.00 MAP4K1 11184 genome.wustl.edu 37 19 39096370 39096370 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 39096370 39096370 G A SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known missense c.1201 p.P401S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 25 5 16.67 42 0 0.00 MAP4K1 11184 genome.wustl.edu 37 19 39100263 39100263 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 39100263 39100263 G A SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known silent c.979 p.L327 0.801 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 14 3 17.65 24 0 0.00 MAP4K2 5871 genome.wustl.edu 37 11 64557881 64557881 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64557881 64557881 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known silent c.2146 p.L716 0.665 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 21 4 16.00 23 0 0.00 MAP4K2 5871 genome.wustl.edu 37 11 64559459 64559459 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 64559459 64559459 C G SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known missense c.2014 p.E672Q 0.993 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 26 4 13.33 36 0 0.00 MAP4K2 5871 genome.wustl.edu 37 11 64567650 64567650 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64567650 64567650 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known silent c.846 p.L282 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 34 10 22.73 50 0 0.00 MAP4K2 5871 genome.wustl.edu 37 11 64567842 64567842 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 11 64567842 64567842 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known missense c.748 p.L250F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 36 22 37.29 66 0 0.00 MAP4K3 8491 genome.wustl.edu 37 2 39499440 39499440 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 39499440 39499440 C T SNP MAP4K3 ENST00000263881 human ensembl 70_37 -1 known missense c.1957 p.D653N 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K3 HGNC ENSG00000011566 164 29 15.03 144 0 0.00 MAP4K4 9448 genome.wustl.edu 37 2 102483733 102483733 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 102483733 102483733 G A SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.2416 p.E806K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 41 8 16.33 48 0 0.00 MAP4K4 9448 genome.wustl.edu 37 2 102501684 102501684 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102501684 102501684 T G SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.3364 p.L1122V 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 16 7 30.43 45 0 0.00 MAP4K4 9448 genome.wustl.edu 37 2 102503688 102503688 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 102503688 102503688 C G SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.3568 p.L1190V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 52 37 41.57 76 0 0.00 MAP4K5 11183 genome.wustl.edu 37 14 50892637 50892637 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50892637 50892637 G C SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.2385 p.F795L 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC ENSG00000012983 17 8 32.00 22 0 0.00 MAP4K5 11183 genome.wustl.edu 37 14 50895433 50895433 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50895433 50895433 G C SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known nonsense c.2273 p.S758* 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC ENSG00000012983 16 19 54.29 26 0 0.00 MAP4K5 11183 genome.wustl.edu 37 14 50907112 50907112 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 50907112 50907112 G A SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.1612 p.L538F 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC ENSG00000012983 45 26 36.62 49 0 0.00 MAP4K5 11183 genome.wustl.edu 37 14 50952896 50952896 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50952896 50952896 C G SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.183 p.L61F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC ENSG00000012983 13 16 55.17 41 0 0.00 MAP6D1 79929 genome.wustl.edu 37 3 183542976 183542976 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 183542976 183542976 G C SNP MAP6D1 ENST00000318631 human ensembl 70_37 -1 known missense c.360 p.I120M 0.003 NULL pfam_STOP/FAM154 - no_errors MAP6D1 HGNC ENSG00000180834 6 5 45.45 9 0 0.00 MAP7 9053 genome.wustl.edu 37 6 136683707 136683707 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 136683707 136683707 A C SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known silent c.1473 p.T491 0.992 pfam_E-MAP-115 pfam_E-MAP-115 - no_errors MAP7 HGNC ENSG00000135525 24 3 11.11 36 0 0.00 MAP7 9053 genome.wustl.edu 37 6 136687065 136687065 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 136687065 136687065 C T SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known missense c.1147 p.V383I 0.014 NULL pfam_E-MAP-115 - no_errors MAP7 HGNC ENSG00000135525 58 9 13.43 92 0 0.00 MAP7 9053 genome.wustl.edu 37 6 136698939 136698939 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 136698939 136698939 C T SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known silent c.771 p.S257 1.000 NULL pfam_E-MAP-115 - no_errors MAP7 HGNC ENSG00000135525 23 26 53.06 67 0 0.00 MAP7D1 55700 genome.wustl.edu 37 1 36636740 36636740 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 36636740 36636740 C T SNP MAP7D1 ENST00000373151 human ensembl 70_37 +1 known missense c.215 p.S72L 0.013 NULL pfam_E-MAP-115 - no_errors MAP7D1 HGNC ENSG00000116871 39 21 35.00 34 0 0.00 MAP7D1 55700 genome.wustl.edu 37 1 36643631 36643631 + Nonsense_Mutation SNP G G T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 36643631 36643631 G T SNP MAP7D1 ENST00000373151 human ensembl 70_37 +1 known nonsense c.1537 p.E513* 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D1 HGNC ENSG00000116871 25 17 40.48 43 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20029053 20029053 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 20029053 20029053 G C SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known silent c.2190 p.L730 0.995 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 55 18 24.32 51 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20030618 20030618 + Missense_Mutation SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 20030618 20030618 C A SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1921 p.G641C 0.001 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 33 4 10.81 25 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20033420 20033420 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 20033420 20033420 C A SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1670 p.R557L 1.000 pfam_E-MAP-115 pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 143 37 20.44 205 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20043927 20043927 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 20043927 20043927 C T SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1151 p.R384K 0.600 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 22 12 35.29 39 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20074858 20074858 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 20074858 20074858 C G SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.424 p.E142Q 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 25 21 45.65 43 0 0.00 MAP7D2 256714 genome.wustl.edu 37 X 20082889 20082889 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 20082889 20082889 C G SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.165 p.Q55H 0.992 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 42 5 10.64 34 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135310928 135310928 + RNA SNP T T G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 135310928 135310928 T G SNP MAP7D3 ENST00000495432 human ensembl 70_37 -1 known rna NULL NULL 0.268 - - - no_errors MAP7D3 HGNC ENSG00000129680 74 11 12.94 89 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135313040 135313040 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 135313040 135313040 G C SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.1445 p.S482C 0.036 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 50 11 18.03 57 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135323395 135323395 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 135323395 135323395 C A SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.405 p.R135S 0.009 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 56 19 25.33 49 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135323400 135323400 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 135323400 135323400 G A SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.400 p.R134W 0.157 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 36 9 20.00 35 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135323432 135323432 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135323432 135323432 T G SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.368 p.K123T 0.000 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 24 17 41.46 58 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135326895 135326895 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 135326895 135326895 G C SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.259 p.Q87E 0.821 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 106 141 56.85 162 0 0.00 MAP7D3 79649 genome.wustl.edu 37 X 135328486 135328486 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 135328486 135328486 C G SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.013 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC ENSG00000129680 45 6 11.76 42 0 0.00 MAP9 79884 genome.wustl.edu 37 4 156276946 156276946 + Missense_Mutation SNP T T G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 156276946 156276946 T G SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.1212 p.K404N 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 35 11 23.91 59 0 0.00 MAP9 79884 genome.wustl.edu 37 4 156283223 156283223 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 156283223 156283223 G A SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.779 p.S260F 0.306 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 29 13 30.95 73 0 0.00 MAP9 79884 genome.wustl.edu 37 4 156296145 156296145 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 156296145 156296145 C T SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.104 p.R35H 0.987 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 28 21 42.86 57 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 71 14 16.47 82 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 44 12 21.43 94 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 47 6 11.32 67 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 39 15 27.78 48 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 30 18 37.50 81 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 30 29 49.15 50 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 18 25 58.14 33 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22127167 22127167 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 22127167 22127167 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.961 p.D321N 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 29 17 36.96 74 0 0.00 MAPK1 5594 genome.wustl.edu 37 22 22160227 22160227 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 22160227 22160227 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.404 p.R135K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 59 25 29.76 78 0 0.00 MAPK11 5600 genome.wustl.edu 37 22 50704989 50704989 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 50704989 50704989 G A SNP MAPK11 ENST00000330651 human ensembl 70_37 -1 known missense c.662 p.A221V 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK11 HGNC ENSG00000185386 50 14 21.88 83 0 0.00 MAPK11 5600 genome.wustl.edu 37 22 50705350 50705350 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 50705350 50705350 C A SNP MAPK11 ENST00000449719 human ensembl 70_37 -1 known missense c.299 p.R100M 0.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK11 HGNC ENSG00000185386 49 6 10.91 41 0 0.00 MAPK12 6300 genome.wustl.edu 37 22 50694089 50694089 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 50694089 50694089 C T SNP MAPK12 ENST00000215659 human ensembl 70_37 -1 known silent c.726 p.T242 0.296 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38 - no_errors MAPK12 HGNC ENSG00000188130 24 17 41.46 55 0 0.00 MAPK13 5603 genome.wustl.edu 37 6 36106799 36106799 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 36106799 36106799 G C SNP MAPK13 ENST00000211287 human ensembl 70_37 +1 known missense c.985 p.E329Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 11 6 35.29 8 0 0.00 MAPK14 1432 genome.wustl.edu 37 6 36041852 36041852 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 36041852 36041852 G A SNP MAPK14 ENST00000229794 human ensembl 70_37 +1 known silent c.474 p.V158 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38 - no_errors MAPK14 HGNC ENSG00000112062 40 26 39.39 101 0 0.00 MAPK15 225689 genome.wustl.edu 37 8 144801298 144801298 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144801298 144801298 G T SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.553 p.A185S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC ENSG00000181085 5 5 50.00 14 0 0.00 MAPK15 225689 genome.wustl.edu 37 8 144801299 144801299 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144801299 144801299 C T SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.554 p.A185V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC ENSG00000181085 5 6 54.55 14 0 0.00 MAPK15 225689 genome.wustl.edu 37 8 144802739 144802739 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144802739 144802739 C T SNP MAPK15 ENST00000395108 human ensembl 70_37 +1 known missense c.743 p.S248L 0.000 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC ENSG00000181085 25 17 40.48 18 0 0.00 MAPK15 225689 genome.wustl.edu 37 8 144803953 144803953 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144803953 144803953 C A SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.1361 p.S454Y 0.902 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC ENSG00000181085 19 9 32.14 16 0 0.00 MAPK1IP1L 93487 genome.wustl.edu 37 14 55518385 55518385 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 55518385 55518385 G C SNP MAPK1IP1L ENST00000554364 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MAPK1IP1L HGNC ENSG00000168175 18 13 41.94 30 0 0.00 MAPK3 5595 genome.wustl.edu 37 16 30128563 30128563 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30128563 30128563 G C SNP MAPK3 ENST00000263025 human ensembl 70_37 -1 known missense c.819 p.I273M 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK3 HGNC ENSG00000102882 16 14 46.67 27 0 0.00 MAPK4 5596 genome.wustl.edu 37 18 48248379 48248379 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 48248379 48248379 G A SNP MAPK4 ENST00000400384 human ensembl 70_37 +1 known missense c.763 p.E255K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 32 12 27.27 43 0 0.00 MAPK6 5597 genome.wustl.edu 37 15 52338060 52338060 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 52338060 52338060 T G SNP MAPK6 ENST00000558063 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MAPK6 HGNC ENSG00000069956 21 12 36.36 23 0 0.00 MAPK6 5597 genome.wustl.edu 37 15 52356491 52356491 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 52356491 52356491 C T SNP MAPK6 ENST00000261845 human ensembl 70_37 +1 known missense c.1460 p.S487F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK6 HGNC ENSG00000069956 76 30 28.30 133 0 0.00 MAPK6 5597 genome.wustl.edu 37 15 52356856 52356856 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 52356856 52356856 C T SNP MAPK6 ENST00000261845 human ensembl 70_37 +1 known nonsense c.1825 p.Q609* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK6 HGNC ENSG00000069956 79 21 21.00 87 0 0.00 MAPK7 5598 genome.wustl.edu 37 17 19284297 19284297 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 19284297 19284297 C T SNP MAPK7 ENST00000308406 human ensembl 70_37 +1 known missense c.775 p.R259C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK7 HGNC ENSG00000166484 30 5 14.29 64 0 0.00 MAPK7 5598 genome.wustl.edu 37 17 19284341 19284341 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 19284341 19284341 C G SNP MAPK7 ENST00000308406 human ensembl 70_37 +1 known silent c.819 p.L273 0.999 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK7 HGNC ENSG00000166484 13 6 31.58 32 0 0.00 MAPK7 5598 genome.wustl.edu 37 17 19286539 19286539 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 19286539 19286539 C T SNP MAPK7 ENST00000308406 human ensembl 70_37 +1 known missense c.2446 p.P816S 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK7 HGNC ENSG00000166484 32 4 10.81 26 0 0.00 MAPK8 5599 genome.wustl.edu 37 10 49628280 49628280 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 49628280 49628280 C T SNP MAPK8 ENST00000360332 human ensembl 70_37 +1 known missense c.533 p.T178M 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 14 12 46.15 31 0 0.00 MAPK8 5599 genome.wustl.edu 37 10 49634660 49634660 + RNA SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 10 49634660 49634660 G A SNP MAPK8 ENST00000469110 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MAPK8 HGNC ENSG00000107643 5 4 44.44 10 0 0.00 MAPK8 5599 genome.wustl.edu 37 10 49639240 49639240 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 49639240 49639240 G A SNP MAPK8 ENST00000360332 human ensembl 70_37 +1 known silent c.1065 p.L355 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 47 12 20.00 22 0 0.00 MAPK8IP1 9479 genome.wustl.edu 37 11 45919684 45919684 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 45919684 45919684 G A SNP MAPK8IP1 ENST00000241014 human ensembl 70_37 +1 known silent c.150 p.S50 0.076 NULL pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 45 14 23.73 40 0 0.00 MAPK8IP1 9479 genome.wustl.edu 37 11 45924612 45924612 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 45924612 45924612 G A SNP MAPK8IP1 ENST00000241014 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 superfamily_SH3_domain pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 8 3 27.27 12 0 0.00 MAPK8IP2 23542 genome.wustl.edu 37 22 51041880 51041880 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 22 51041880 51041880 C T SNP MAPK8IP2 ENST00000329492 human ensembl 70_37 +1 known missense c.400 p.H134Y 0.999 NULL pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 8 9 52.94 8 0 0.00 MAPK8IP3 23162 genome.wustl.edu 37 16 1774567 1774567 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 1774567 1774567 G C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_JNK/Rab-associated_protein-1_N pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 25 11 30.56 36 0 0.00 MAPK8IP3 23162 genome.wustl.edu 37 16 1793357 1793357 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 1793357 1793357 G A SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.624 p.L208 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 15 34 69.39 56 0 0.00 MAPK8IP3 23162 genome.wustl.edu 37 16 1797130 1797130 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1797130 1797130 C T SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known missense c.845 p.S282L 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 70 19 21.35 79 0 0.00 MAPK8IP3 23162 genome.wustl.edu 37 16 1810463 1810463 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 1810463 1810463 T C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.1384 p.L462 0.997 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 16 50 75.76 111 1 0.87 MAPK8IP3 23162 genome.wustl.edu 37 16 1810463 1810463 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 1810463 1810463 T C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.1384 p.L462 0.997 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 17 31 64.58 27 0 0.00 MAPK8IP3 23162 genome.wustl.edu 37 16 1818599 1818599 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 1818599 1818599 C T SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.3861 p.G1287 0.639 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 53 25 32.05 87 0 0.00 MAPK9 5601 genome.wustl.edu 37 5 179668047 179668047 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 179668047 179668047 G T SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.980 p.P327H 1.000 superfamily_Kinase-like_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 12 3 20.00 27 0 0.00 MAPK9 5601 genome.wustl.edu 37 5 179668150 179668150 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 179668150 179668150 G C SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.877 p.Q293E 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 19 15 44.12 40 0 0.00 MAPK9 5601 genome.wustl.edu 37 5 179676112 179676112 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 179676112 179676112 C T SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known silent c.477 p.V159 0.915 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 17 18 51.43 37 0 0.00 MAPK9 5601 genome.wustl.edu 37 5 179688761 179688761 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 179688761 179688761 G A SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.373 p.H125Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 45 17 27.42 80 0 0.00 MAPK9 5601 genome.wustl.edu 37 5 179696336 179696336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 179696336 179696336 G A SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.196 p.H66Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 11 10 47.62 14 0 0.00 MAPKAP1 79109 genome.wustl.edu 37 9 128206818 128206818 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 128206818 128206818 C T SNP MAPKAP1 ENST00000265960 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 29 15 34.09 66 0 0.00 MAPKAP1 79109 genome.wustl.edu 37 9 128327727 128327728 + RNA INS - - T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 128327727 128327728 - T INS MAPKAP1 ENST00000448439 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.003 - - - no_errors MAPKAP1 HGNC ENSG00000119487 16 3 15.79 22 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206902307 206902307 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 206902307 206902307 G C SNP MAPKAPK2 ENST00000493447 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 29 19 39.58 41 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206902307 206902307 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 206902307 206902307 G C SNP MAPKAPK2 ENST00000493447 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 34 15 30.00 27 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206904053 206904053 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 206904053 206904053 G A SNP MAPKAPK2 ENST00000367103 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 86 37 30.08 88 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206904595 206904595 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 206904595 206904595 G A SNP MAPKAPK2 ENST00000367103 human ensembl 70_37 +1 known missense c.880 p.V294I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 35 5 12.20 31 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 29 8 21.62 44 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 16 2 11.11 23 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206905167 206905167 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 206905167 206905167 C G SNP MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.072 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 35 22 38.60 62 0 0.00 MAPKAPK2 9261 genome.wustl.edu 37 1 206905167 206905167 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 206905167 206905167 C G SNP MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.072 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 35 6 14.63 76 0 0.00 MAPKAPK3 7867 genome.wustl.edu 37 3 50684590 50684590 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 50684590 50684590 G A SNP MAPKAPK3 ENST00000357955 human ensembl 70_37 +1 known missense c.952 p.A318T 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 28 24 46.15 49 0 0.00 MAPKAPK5 8550 genome.wustl.edu 37 12 112327921 112327921 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 112327921 112327921 G C SNP MAPKAPK5 ENST00000202788 human ensembl 70_37 +1 known missense c.1300 p.D434H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK5 HGNC ENSG00000089022 27 14 34.15 46 0 0.00 MAPKBP1 23005 genome.wustl.edu 37 15 42067565 42067565 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 42067565 42067565 G A SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known missense c.92 p.R31Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 17 16 48.48 39 0 0.00 MAPKBP1 23005 genome.wustl.edu 37 15 42107876 42107876 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 42107876 42107876 G C SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known missense c.1390 p.E464Q 0.976 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 39 5 11.36 32 0 0.00 MAPKBP1 23005 genome.wustl.edu 37 15 42116052 42116052 + Nonsense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 42116052 42116052 G T SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known nonsense c.4024 p.E1342* 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 63 7 10.00 77 0 0.00 MAPT 4137 genome.wustl.edu 37 17 44060720 44060720 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 44060720 44060720 G A SNP MAPT ENST00000344290 human ensembl 70_37 +1 known missense c.550 p.A184T 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 37 26 41.27 25 0 0.00 MAPT 4137 genome.wustl.edu 37 17 44068843 44068843 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 44068843 44068843 G A SNP MAPT ENST00000344290 human ensembl 70_37 +1 known silent c.1398 p.T466 0.736 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 44 41 48.24 62 0 0.00 MAPT 4137 genome.wustl.edu 37 17 44101491 44101491 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 44101491 44101491 C T SNP MAPT ENST00000344290 human ensembl 70_37 +1 known missense c.2285 p.T762M 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 9 9 50.00 28 0 0.00 MARCH10 162333 genome.wustl.edu 37 17 60799927 60799927 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60799927 60799927 C T SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.2136 p.E712 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 25 10 28.57 51 0 0.00 MARCH10 162333 genome.wustl.edu 37 17 60813357 60813357 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 60813357 60813357 G A SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.1872 p.F624 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 36 6 14.29 29 0 0.00 MARCH10 162333 genome.wustl.edu 37 17 60814461 60814461 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 60814461 60814461 G C SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.768 p.L256 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 65 37 36.27 85 0 0.00 MARCH11 441061 genome.wustl.edu 37 5 16067780 16067780 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 16067780 16067780 C G SNP MARCH11 ENST00000332432 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 44 11 20.00 22 0 0.00 MARCH11 441061 genome.wustl.edu 37 5 16067780 16067780 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 16067780 16067780 C G SNP MARCH11 ENST00000332432 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 63 16 20.25 84 0 0.00 MARCH3 115123 genome.wustl.edu 37 5 126214052 126214052 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 126214052 126214052 C T SNP MARCH3 ENST00000308660 human ensembl 70_37 -1 known missense c.428 p.R143Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH3 HGNC ENSG00000173926 53 12 18.46 49 0 0.00 MARCH4 57574 genome.wustl.edu 37 2 217142480 217142480 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 217142480 217142480 G A SNP MARCH4 ENST00000273067 human ensembl 70_37 -1 known silent c.780 p.F260 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 8 8 50.00 31 0 0.00 MARCH4 57574 genome.wustl.edu 37 2 217234646 217234646 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 217234646 217234646 G A SNP MARCH4 ENST00000273067 human ensembl 70_37 -1 known missense c.338 p.S113F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 25 4 13.79 53 0 0.00 MARCH5 54708 genome.wustl.edu 37 10 94070946 94070946 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 94070946 94070946 G A SNP MARCH5 ENST00000358935 human ensembl 70_37 +1 known silent c.90 p.V30 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 26 17 39.53 70 0 0.00 MARCH6 10299 genome.wustl.edu 37 5 10377945 10377945 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 10377945 10377945 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.55 p.E19K 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 113 24 17.52 137 0 0.00 MARCH6 10299 genome.wustl.edu 37 5 10377945 10377945 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 10377945 10377945 G C SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.55 p.E19Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 94 15 13.76 72 0 0.00 MARCH6 10299 genome.wustl.edu 37 5 10394201 10394201 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 10394201 10394201 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.774 p.M258I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 13 13 50.00 26 0 0.00 MARCH6 10299 genome.wustl.edu 37 5 10415612 10415612 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 10415612 10415612 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 23 129 84.87 106 0 0.00 MARCH6 10299 genome.wustl.edu 37 5 10417496 10417496 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 10417496 10417496 C G SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.2263 p.P755A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 298 72 19.41 250 0 0.00 MARCH7 64844 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 70_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 19 3 13.64 29 0 0.00 MARCH9 92979 genome.wustl.edu 37 12 58152517 58152517 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 58152517 58152517 C G SNP MARCH9 ENST00000266643 human ensembl 70_37 +1 known missense c.878 p.S293C 0.817 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 30 15 33.33 25 0 0.00 MARCKS 4082 genome.wustl.edu 37 6 114179004 114179004 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 6 114179004 114179004 C T SNP MARCKS ENST00000368635 human ensembl 70_37 +1 known missense c.83 p.P28L 1.000 pfam_MARCKS,prints_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 12 6 33.33 14 0 0.00 MARCKS 4082 genome.wustl.edu 37 6 114181151 114181151 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 114181151 114181151 C T SNP MARCKS ENST00000368635 human ensembl 70_37 +1 known missense c.395 p.S132L 0.996 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 34 14 29.17 29 0 0.00 MARCO 8685 genome.wustl.edu 37 2 119731963 119731963 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 119731963 119731963 G A SNP MARCO ENST00000327097 human ensembl 70_37 +1 known missense c.515 p.G172E 0.001 pfam_Collagen pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors MARCO HGNC ENSG00000019169 25 9 26.47 31 0 0.00 MARCO 8685 genome.wustl.edu 37 2 119749366 119749366 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 119749366 119749366 G A SNP MARCO ENST00000327097 human ensembl 70_37 +1 known silent c.1122 p.V374 0.186 pfam_Collagen pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors MARCO HGNC ENSG00000019169 44 27 38.03 71 0 0.00 MARK1 4139 genome.wustl.edu 37 1 220804416 220804416 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 220804416 220804416 G C SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 76 24 24.00 90 0 0.00 MARK1 4139 genome.wustl.edu 37 1 220804457 220804457 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 220804457 220804457 C T SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known silent c.990 p.F330 1.000 pfscan_UBA/transl_elong_EF1B_N_euk pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 22 19 46.34 29 0 0.00 MARK1 4139 genome.wustl.edu 37 1 220809274 220809274 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 220809274 220809274 G A SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.1376 p.R459Q 0.985 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 48 6 10.34 31 0 0.00 MARK1 4139 genome.wustl.edu 37 1 220826469 220826469 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 220826469 220826469 C T SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.1763 p.S588F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 54 12 18.18 55 0 0.00 MARK2 2011 genome.wustl.edu 37 11 63668148 63668148 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 63668148 63668148 G C SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.886 p.E296Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 34 4 10.53 27 0 0.00 MARK2 2011 genome.wustl.edu 37 11 63668149 63668149 + Missense_Mutation SNP A A T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 63668149 63668149 A T SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.887 p.E296V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 35 4 10.26 27 0 0.00 MARK2 2011 genome.wustl.edu 37 11 63670179 63670179 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 11 63670179 63670179 C T SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known silent c.1341 p.A447 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 23 4 14.29 41 0 0.00 MARK2 2011 genome.wustl.edu 37 11 63671484 63671484 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 63671484 63671484 C A SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.1541 p.S514Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 45 9 16.67 41 0 0.00 MARK3 4140 genome.wustl.edu 37 14 103852004 103852004 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 103852004 103852004 C T SNP MARK3 ENST00000560603 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MARK3 HGNC ENSG00000075413 14 6 30.00 14 0 0.00 MARK3 4140 genome.wustl.edu 37 14 103969412 103969412 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 103969412 103969412 G A SNP MARK3 ENST00000429436 human ensembl 70_37 +1 known missense c.2110 p.D704N 0.998 superfamily_Kinase-assoc_KA1 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 33 20 37.74 38 0 0.00 MARK4 57787 genome.wustl.edu 37 19 45801453 45801453 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 45801453 45801453 G A SNP MARK4 ENST00000300843 human ensembl 70_37 +1 known missense c.1930 p.A644T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK4 HGNC ENSG00000007047 53 25 31.65 77 0 0.00 MARS 4141 genome.wustl.edu 37 12 57881885 57881885 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57881885 57881885 C G SNP MARS ENST00000262027 human ensembl 70_37 +1 known missense c.12 p.F4L 1.000 superfamily_Thioredoxin-like_fold pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 42 16 27.59 28 0 0.00 MARS 4141 genome.wustl.edu 37 12 57884137 57884137 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 57884137 57884137 G A SNP MARS ENST00000262027 human ensembl 70_37 +1 known missense c.638 p.G213E 0.259 NULL pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 15 9 37.50 36 0 0.00 MARS 4141 genome.wustl.edu 37 12 57906036 57906036 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 57906036 57906036 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1653 p.F551 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 87 34 28.10 97 0 0.00 MARS 4141 genome.wustl.edu 37 12 57906126 57906126 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 57906126 57906126 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1743 p.L581 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 33 24 42.11 56 0 0.00 MARS 4141 genome.wustl.edu 37 12 57906742 57906742 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57906742 57906742 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1962 p.I654 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 94 28 22.95 80 0 0.00 MARS2 92935 genome.wustl.edu 37 2 198571412 198571412 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 198571412 198571412 G A SNP MARS2 ENST00000282276 human ensembl 70_37 +1 known missense c.1283 p.C428Y 0.990 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 19 34 64.15 32 0 0.00 MARS2 92935 genome.wustl.edu 37 2 198571760 198571760 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 198571760 198571760 C T SNP MARS2 ENST00000282276 human ensembl 70_37 +1 known missense c.1631 p.S544L 0.646 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 11 15 57.69 34 0 0.00 MARVELD2 153562 genome.wustl.edu 37 5 68728887 68728887 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 68728887 68728887 G C SNP MARVELD2 ENST00000325631 human ensembl 70_37 +1 known missense c.1470 p.M490I 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom - no_errors MARVELD2 HGNC ENSG00000152939 60 7 10.45 43 0 0.00 MARVELD3 91862 genome.wustl.edu 37 16 71674336 71674336 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71674336 71674336 C T SNP MARVELD3 ENST00000299952 human ensembl 70_37 +1 known silent c.639 p.L213 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 131 29 18.12 181 0 0.00 MARVELD3 91862 genome.wustl.edu 37 16 71675964 71675964 + RNA SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 71675964 71675964 G C SNP MARVELD3 ENST00000561682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MARVELD3 HGNC ENSG00000140832 43 20 31.75 43 0 0.00 MAS1 4142 genome.wustl.edu 37 6 160328132 160328132 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 160328132 160328132 G C SNP MAS1 ENST00000252660 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.881 pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 20 38 65.52 71 0 0.00 MAS1 4142 genome.wustl.edu 37 6 160328744 160328744 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 160328744 160328744 G A SNP MAS1 ENST00000252660 human ensembl 70_37 +1 known missense c.757 p.E253K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 24 10 29.41 44 0 0.00 MAS1L 116511 genome.wustl.edu 37 6 29454693 29454693 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 29454693 29454693 G C SNP MAS1L ENST00000377127 human ensembl 70_37 -1 known silent c.987 p.L329 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 40 15 27.27 57 0 0.00 MAS1L 116511 genome.wustl.edu 37 6 29454755 29454755 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 29454755 29454755 C T SNP MAS1L ENST00000377127 human ensembl 70_37 -1 known missense c.925 p.A309T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 8 18 69.23 33 0 0.00 MASP1 5648 genome.wustl.edu 37 3 186940918 186940918 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 186940918 186940918 C T SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known missense c.1806 p.M602I 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 81 19 19.00 60 0 0.00 MASP1 5648 genome.wustl.edu 37 3 186944295 186944295 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 186944295 186944295 G A SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known silent c.1455 p.I485 0.659 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 47 12 20.34 43 0 0.00 MASP1 5648 genome.wustl.edu 37 3 186947582 186947582 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186947582 186947582 C T SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known silent c.1407 p.L469 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 89 11 11.00 50 0 0.00 MASP1 5648 genome.wustl.edu 37 3 186954180 186954180 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186954180 186954180 G C SNP MASP1 ENST00000296280 human ensembl 70_37 -1 known silent c.1479 p.L493 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 76 19 19.59 44 0 0.00 MASP1 5648 genome.wustl.edu 37 3 186978566 186978566 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 186978566 186978566 G A SNP MASP1 ENST00000296280 human ensembl 70_37 -1 known silent c.510 p.F170 0.986 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 108 16 12.90 119 0 0.00 MASP2 10747 genome.wustl.edu 37 1 11103437 11103437 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 11103437 11103437 C G SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known missense c.700 p.E234Q 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 33 18 35.29 60 0 0.00 MASP2 10747 genome.wustl.edu 37 1 11106635 11106635 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 11106635 11106635 G A SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known silent c.390 p.F130 0.999 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 21 11 34.38 36 0 0.00 MASP2 10747 genome.wustl.edu 37 1 11107058 11107058 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 11107058 11107058 C T SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known missense c.124 p.D42N 0.268 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 10 3 23.08 11 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12954365 12954365 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 12954365 12954365 C G SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.271 p.L91V 0.998 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 82 21 20.19 71 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12954416 12954416 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12954416 12954416 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.322 p.V108I 0.993 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 52 30 36.59 90 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12958772 12958772 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12958772 12958772 C G SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.675 p.I225M 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 21 7 25.00 12 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12958773 12958773 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 12958773 12958773 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.676 p.E226Q 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 42 8 16.00 38 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12978425 12978425 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 12978425 12978425 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known silent c.2277 p.L759 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 11 4 26.67 16 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12978584 12978584 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 12978584 12978584 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.2359 p.E787Q 0.999 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 15 12 44.44 35 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12981737 12981737 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 12981737 12981737 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.3103 p.E1035Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 72 22 23.40 89 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12981865 12981865 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 12981865 12981865 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.3142 p.A1048P 0.805 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 85 52 37.96 124 0 0.00 MAST1 22983 genome.wustl.edu 37 19 12984741 12984741 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 12984741 12984741 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.3770 p.R1257H 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 51 27 34.62 89 0 0.00 MAST2 23139 genome.wustl.edu 37 1 46425105 46425105 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46425105 46425105 C T SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known missense c.548 p.S183L 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 49 17 25.76 61 0 0.00 MAST2 23139 genome.wustl.edu 37 1 46496304 46496304 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46496304 46496304 C G SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known nonsense c.2579 p.S860* 0.999 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 46 29 38.67 46 0 0.00 MAST2 23139 genome.wustl.edu 37 1 46496373 46496373 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46496373 46496373 C G SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known nonsense c.2648 p.S883* 0.525 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 54 32 37.21 52 0 0.00 MAST2 23139 genome.wustl.edu 37 1 46500934 46500934 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 46500934 46500934 G C SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known missense c.4593 p.Q1531H 0.725 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 36 4 10.00 66 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18234034 18234034 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 18234034 18234034 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.320 p.S107L 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 24 12 33.33 54 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18239690 18239690 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 18239690 18239690 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known silent c.1065 p.V355 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 25 4 13.79 57 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18248147 18248147 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 18248147 18248147 G A SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.1984 p.E662K 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 41 11 21.15 57 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18254611 18254611 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18254611 18254611 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2291 p.S764L 0.254 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 51 17 25.00 62 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18254622 18254622 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18254622 18254622 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known nonsense c.2302 p.Q768* 0.963 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 57 20 25.97 74 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18254649 18254649 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18254649 18254649 C G SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2329 p.L777V 0.117 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 38 14 26.92 54 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18255336 18255336 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18255336 18255336 C G SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2558 p.S853C 0.995 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 34 26 43.33 47 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18255851 18255851 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 18255851 18255851 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2764 p.P922S 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 21 12 36.36 36 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18257690 18257690 + Splice_Site SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 18257690 18257690 G C SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known splice_site c.3076-1 e25-1 1.000 - - - no_errors MAST3 HGNC ENSG00000099308 18 16 47.06 16 0 0.00 MAST3 23031 genome.wustl.edu 37 19 18260492 18260492 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18260492 18260492 G A SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.3886 p.E1296K 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC ENSG00000099308 20 17 45.95 38 0 0.00 MAST4 375449 genome.wustl.edu 37 5 65892659 65892659 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 65892659 65892659 G C SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.176 p.R59T 0.219 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 6 3 33.33 12 0 0.00 MAST4 375449 genome.wustl.edu 37 5 65892767 65892768 + In_Frame_Ins INS - - GCC TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 65892767 65892768 - GCC INS MAST4 ENST00000404260 human ensembl 70_37 +1 known in_frame_ins c.284_285 p.99in_frame_insP 0.152:0.543 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 16 4 20.00 25 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66084548 66084548 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 66084548 66084548 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.568 p.A190T 0.029 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 45 33 42.31 67 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66398418 66398418 + Silent SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 66398418 66398418 C G SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known silent c.1134 p.V378 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 89 22 19.82 71 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66426168 66426168 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 66426168 66426168 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.1885 p.E629K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 55 22 28.57 42 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66427716 66427716 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 66427716 66427716 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.2039 p.T680M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 113 42 27.10 199 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66438035 66438035 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 66438035 66438035 G C SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.2596 p.E866Q 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 108 28 20.59 156 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66456416 66456416 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 66456416 66456416 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.3790 p.E1264K 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 98 41 29.50 118 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66459794 66459794 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 66459794 66459794 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.4796 p.A1599V 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 16 5 23.81 17 0 0.00 MAST4 375449 genome.wustl.edu 37 5 66461117 66461117 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 66461117 66461117 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.6119 p.A2040V 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 22 14 38.89 20 0 0.00 MASTL 84930 genome.wustl.edu 37 10 27448577 27448577 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 27448577 27448577 C G SNP MASTL ENST00000375940 human ensembl 70_37 +1 known silent c.354 p.V118 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC ENSG00000120539 22 18 45.00 25 0 0.00 MASTL 84930 genome.wustl.edu 37 10 27454084 27454084 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 27454084 27454084 C T SNP MASTL ENST00000375940 human ensembl 70_37 +1 known silent c.645 p.I215 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC ENSG00000120539 51 21 29.17 92 0 0.00 MASTL 84930 genome.wustl.edu 37 10 27459156 27459156 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 27459156 27459156 C T SNP MASTL ENST00000375940 human ensembl 70_37 +1 known missense c.1268 p.S423L 0.002 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC ENSG00000120539 7 15 68.18 32 0 0.00 MASTL 84930 genome.wustl.edu 37 10 27459855 27459855 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 10 27459855 27459855 G A SNP MASTL ENST00000375940 human ensembl 70_37 +1 known missense c.1967 p.R656Q 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC ENSG00000120539 26 10 27.78 43 0 0.00 MAT1A 4143 genome.wustl.edu 37 10 82034850 82034850 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 82034850 82034850 G A SNP MAT1A ENST00000372206 human ensembl 70_37 -1 known missense c.874 p.R292C 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 48 14 22.58 98 0 0.00 MAT2A 4144 genome.wustl.edu 37 2 85766425 85766425 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 85766425 85766425 C T SNP MAT2A ENST00000306434 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 28 13 31.71 53 0 0.00 MAT2A 4144 genome.wustl.edu 37 2 85770819 85770819 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 85770819 85770819 A C SNP MAT2A ENST00000306434 human ensembl 70_37 +1 known missense c.1112 p.Y371S 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 20 11 35.48 42 0 0.00 MATK 4145 genome.wustl.edu 37 19 3779086 3779086 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 3779086 3779086 C G SNP MATK ENST00000395045 human ensembl 70_37 -1 known missense c.1104 p.K368N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 54 16 22.86 61 0 0.00 MATK 4145 genome.wustl.edu 37 19 3784450 3784450 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 3784450 3784450 C T SNP MATK ENST00000395045 human ensembl 70_37 -1 known splice_site c.136-1 e3-1 1.000 - - - no_errors MATK HGNC ENSG00000007264 19 18 48.65 24 0 0.00 MATN1 4146 genome.wustl.edu 37 1 31189126 31189126 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 31189126 31189126 G A SNP MATN1 ENST00000373765 human ensembl 70_37 -1 known silent c.837 p.L279 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 66 8 10.81 47 0 0.00 MATN1 4146 genome.wustl.edu 37 1 31194483 31194483 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 31194483 31194483 C T SNP MATN1 ENST00000373765 human ensembl 70_37 -1 known silent c.210 p.S70 0.016 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 20 13 39.39 31 0 0.00 MATN2 4147 genome.wustl.edu 37 8 98943460 98943460 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 98943460 98943460 A G SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.422 p.Q141R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 27 34 54.84 39 0 0.00 MATN2 4147 genome.wustl.edu 37 8 99006749 99006749 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 99006749 99006749 G A SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.1123 p.E375K 0.995 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 41 27 39.71 80 0 0.00 MATN2 4147 genome.wustl.edu 37 8 99030257 99030257 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 99030257 99030257 G C SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.1732 p.E578Q 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 138 53 27.75 77 0 0.00 MATN3 4148 genome.wustl.edu 37 2 20205884 20205884 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 20205884 20205884 G C SNP MATN3 ENST00000407540 human ensembl 70_37 -1 known silent c.411 p.L137 0.945 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 38 15 28.30 33 0 0.00 MATN3 4148 genome.wustl.edu 37 2 20205975 20205975 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20205975 20205975 G C SNP MATN3 ENST00000407540 human ensembl 70_37 -1 known missense c.320 p.S107C 0.498 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 19 7 26.92 23 0 0.00 MATN4 8785 genome.wustl.edu 37 20 43929600 43929600 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 43929600 43929600 C G SNP MATN4 ENST00000372754 human ensembl 70_37 -1 known silent c.1062 p.V354 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 24 3 11.11 18 0 0.00 MATR3 9782 genome.wustl.edu 37 5 138643658 138643658 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 138643658 138643658 G C SNP MATR3 ENST00000361059 human ensembl 70_37 +1 known missense c.554 p.R185T 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 32 21 39.62 31 0 0.00 MATR3 9782 genome.wustl.edu 37 5 138653340 138653340 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 138653340 138653340 A G SNP MATR3 ENST00000361059 human ensembl 70_37 +1 known missense c.1238 p.Y413C 1.000 smart_RRM_dom,pfscan_RRM_dom smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 84 13 13.40 61 0 0.00 MAU2 23383 genome.wustl.edu 37 19 19449665 19449665 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 19449665 19449665 G A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.468 p.T156 0.226 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 14 9 39.13 30 0 0.00 MAU2 23383 genome.wustl.edu 37 19 19452111 19452111 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19452111 19452111 C G SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.630 p.L210 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 46 18 28.12 90 0 0.00 MAU2 23383 genome.wustl.edu 37 19 19453623 19453623 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 19453623 19453623 G A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.921 p.E307 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 78 9 10.34 71 0 0.00 MAU2 23383 genome.wustl.edu 37 19 19466191 19466191 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 19466191 19466191 C A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known missense c.1758 p.N586K 1.000 NULL pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 32 5 13.51 34 0 0.00 MAVS 57506 genome.wustl.edu 37 20 3842980 3842980 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3842980 3842980 C G SNP MAVS ENST00000428216 human ensembl 70_37 +1 known missense c.545 p.S182C 0.375 NULL NULL - no_errors MAVS HGNC ENSG00000088888 20 8 28.57 21 0 0.00 MAVS 57506 genome.wustl.edu 37 20 3846609 3846609 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3846609 3846609 G C SNP MAVS ENST00000428216 human ensembl 70_37 +1 known missense c.1438 p.E480Q 0.003 NULL NULL - no_errors MAVS HGNC ENSG00000088888 39 14 26.42 24 0 0.00 MAX 4149 genome.wustl.edu 37 14 65543311 65543311 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 65543311 65543311 G T SNP MAX ENST00000555932 human ensembl 70_37 -1 novel missense c.107 p.S36Y 1.000 NULL NULL - no_errors MAX HGNC ENSG00000125952 43 10 18.87 33 0 0.00 MAX 4149 genome.wustl.edu 37 14 65544131 65544131 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 65544131 65544131 C G SNP MAX ENST00000557277 human ensembl 70_37 -1 putative missense c.37 p.D13H 1.000 NULL NULL - no_errors MAX HGNC ENSG00000125952 34 17 33.33 54 0 0.00 MAZ 4150 genome.wustl.edu 37 16 29819890 29819890 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29819890 29819890 G A SNP MAZ ENST00000219782 human ensembl 70_37 +1 known splice_site c.1108-1 e4-1 1.000 - - - no_errors MAZ HGNC ENSG00000103495 16 7 30.43 27 0 0.00 MB21D1 115004 genome.wustl.edu 37 6 74135179 74135179 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74135179 74135179 G A SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1340 p.T447I 0.018 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 27 11 28.95 46 0 0.00 MB21D1 115004 genome.wustl.edu 37 6 74135210 74135210 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 74135210 74135210 G A SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1309 p.H437Y 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 23 8 25.81 27 0 0.00 MB21D1 115004 genome.wustl.edu 37 6 74135218 74135218 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 74135218 74135218 G C SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1301 p.S434C 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 26 8 23.53 25 0 0.00 MB21D1 115004 genome.wustl.edu 37 6 74161536 74161536 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74161536 74161536 C T SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known silent c.369 p.Q123 0.000 NULL pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 11 15 57.69 22 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 192516720 192516720 G C SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.931 p.Q311E 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 72 17 19.10 32 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 192516720 192516720 G A SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known nonsense c.931 p.Q311* 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 13 5 27.78 16 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 192516720 192516720 G A SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known nonsense c.931 p.Q311* 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 24 7 22.58 23 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192516904 192516904 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 192516904 192516904 C G SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.747 p.Q249H 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 89 21 19.09 71 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192517146 192517146 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 192517146 192517146 C G SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.505 p.D169H 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 86 27 23.89 43 0 0.00 MB21D2 151963 genome.wustl.edu 37 3 192635560 192635560 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 192635560 192635560 C T SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 37 8 17.78 20 0 0.00 MBD2 8932 genome.wustl.edu 37 18 51729364 51729364 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 51729364 51729364 G C SNP MBD2 ENST00000583046 human ensembl 70_37 -1 known missense c.811 p.L271V 0.204 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 15 3 16.67 15 0 0.00 MBD3 53615 genome.wustl.edu 37 19 1578486 1578486 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 1578486 1578486 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.729 p.L243 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 29 23 44.23 63 0 0.00 MBD3 53615 genome.wustl.edu 37 19 1581162 1581162 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 1581162 1581162 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.606 p.K202 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 49 10 16.95 49 0 0.00 MBD3 53615 genome.wustl.edu 37 19 1581162 1581162 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1581162 1581162 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.606 p.K202 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 35 18 33.96 65 0 0.00 MBD3L1 85509 genome.wustl.edu 37 19 8953854 8953854 + Missense_Mutation SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 8953854 8953854 G C SNP MBD3L1 ENST00000305625 human ensembl 70_37 +1 known missense c.500 p.R167T 0.787 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 26 11 29.73 43 0 0.00 MBD3L1 85509 genome.wustl.edu 37 19 8953854 8953854 + Missense_Mutation SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 8953854 8953854 G C SNP MBD3L1 ENST00000305625 human ensembl 70_37 +1 known missense c.500 p.R167T 0.787 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 36 22 37.93 29 0 0.00 MBD3L3 653657 genome.wustl.edu 37 19 7056699 7056699 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7056699 7056699 G C SNP MBD3L3 ENST00000333843 human ensembl 70_37 -1 known silent c.261 p.L87 0.001 NULL NULL - no_errors MBD3L3 HGNC ENSG00000182315 35 12 25.53 66 0 0.00 MBD3L3 653657 genome.wustl.edu 37 19 7056761 7056761 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7056761 7056761 G A SNP MBD3L3 ENST00000333843 human ensembl 70_37 -1 known missense c.199 p.H67Y 0.008 NULL NULL - no_errors MBD3L3 HGNC ENSG00000182315 16 8 33.33 41 0 0.00 MBD3L5 284428 genome.wustl.edu 37 19 7030637 7030637 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7030637 7030637 G A SNP MBD3L5 ENST00000329753 human ensembl 70_37 +1 known silent c.15 p.A5 0.000 NULL NULL - no_errors MBD3L5 HGNC ENSG00000237247 12 6 33.33 13 0 0.00 MBD4 8930 genome.wustl.edu 37 3 129151414 129151414 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 129151414 129151414 C A SNP MBD4 ENST00000249910 human ensembl 70_37 -1 known nonsense c.1597 p.E533* 1.000 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 34 22 39.29 46 0 0.00 MBD4 8930 genome.wustl.edu 37 3 129155555 129155555 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 129155555 129155555 T G SNP MBD4 ENST00000249910 human ensembl 70_37 -1 known missense c.932 p.K311T 0.005 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 10 10 50.00 37 0 0.00 MBD5 55777 genome.wustl.edu 37 2 149226147 149226147 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 149226147 149226147 C G SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known missense c.635 p.S212C 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 9 10 52.63 23 0 0.00 MBD5 55777 genome.wustl.edu 37 2 149226300 149226300 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 149226300 149226300 C A SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known missense c.788 p.S263Y 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 22 8 26.67 45 0 0.00 MBD5 55777 genome.wustl.edu 37 2 149241014 149241014 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 149241014 149241014 G C SNP MBD5 ENST00000404807 human ensembl 70_37 +1 novel missense c.2854 p.E952Q 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 18 16 47.06 25 0 0.00 MBD5 55777 genome.wustl.edu 37 2 149247488 149247488 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 149247488 149247488 G A SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known silent c.3588 p.Q1196 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 49 48 48.98 208 0 0.00 MBD5 55777 genome.wustl.edu 37 2 149247627 149247627 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 149247627 149247627 G A SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known missense c.3727 p.E1243K 0.997 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 19 8 29.63 12 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919450 57919450 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 57919450 57919450 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known silent c.699 p.L233 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 60 9 13.04 46 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919472 57919472 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919472 57919472 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.721 p.D241N 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 40 26 39.39 31 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919663 57919663 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 57919663 57919663 G C SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known silent c.912 p.L304 0.987 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 32 11 25.58 47 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919782 57919782 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 57919782 57919782 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1031 p.R344Q 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 37 9 19.57 44 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919806 57919806 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919806 57919806 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 13 15 53.57 35 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57919872 57919872 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57919872 57919872 G A SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1121 p.R374Q 0.960 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 15 13 46.43 36 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57920028 57920028 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 57920028 57920028 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1277 p.S426C 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 10 8 44.44 25 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57920520 57920520 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57920520 57920520 G C SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1592 p.G531A 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 23 5 17.86 21 0 0.00 MBD6 114785 genome.wustl.edu 37 12 57921757 57921757 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 57921757 57921757 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known nonsense c.2363 p.S788* 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 70 17 19.54 116 0 0.00 MBIP 51562 genome.wustl.edu 37 14 36786015 36786015 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 36786015 36786015 C G SNP MBIP ENST00000416007 human ensembl 70_37 -1 known missense c.133 p.D45H 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 55 16 22.54 53 0 0.00 MBL1P 8512 genome.wustl.edu 37 10 81664738 81664738 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 81664738 81664738 C T SNP MBL1P ENST00000453174 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors MBL1P HGNC ENSG00000242600 14 5 26.32 35 0 0.00 MBL1P 8512 genome.wustl.edu 37 10 81664752 81664752 + RNA SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 81664752 81664752 A G SNP MBL1P ENST00000453174 human ensembl 70_37 +1 known rna NULL NULL 0.163 - - - no_errors MBL1P HGNC ENSG00000242600 24 8 25.00 18 0 0.00 MBL1P 8512 genome.wustl.edu 37 10 81680031 81680031 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 81680031 81680031 G A SNP MBL1P ENST00000480805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MBL1P HGNC ENSG00000242600 53 17 24.29 28 0 0.00 MBL1P 8512 genome.wustl.edu 37 10 81680522 81680522 + RNA SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 10 81680522 81680522 C T SNP MBL1P ENST00000480805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MBL1P HGNC ENSG00000242600 8 3 27.27 21 0 0.00 MBLAC1 255374 genome.wustl.edu 37 7 99725334 99725334 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 99725334 99725334 G C SNP MBLAC1 ENST00000398075 human ensembl 70_37 +1 known missense c.316 p.D106H 0.093 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 33 23 41.07 57 0 0.00 MBNL1 4154 genome.wustl.edu 37 3 152017352 152017352 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 152017352 152017352 G A SNP MBNL1 ENST00000461436 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MBNL1 HGNC ENSG00000152601 8 6 42.86 20 0 0.00 MBNL1 4154 genome.wustl.edu 37 3 152018043 152018043 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 152018043 152018043 G T SNP MBNL1 ENST00000282486 human ensembl 70_37 +1 known nonsense c.61 p.E21* 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 47 27 36.49 109 0 0.00 MBNL1 4154 genome.wustl.edu 37 3 152018051 152018051 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 152018051 152018051 G T SNP MBNL1 ENST00000282486 human ensembl 70_37 +1 known missense c.69 p.Q23H 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 44 25 36.23 103 0 0.00 MBNL2 10150 genome.wustl.edu 37 13 97995334 97995334 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 97995334 97995334 C T SNP MBNL2 ENST00000376673 human ensembl 70_37 +1 known missense c.404 p.A135V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 48 14 22.58 36 0 0.00 MBOAT1 154141 genome.wustl.edu 37 6 20109874 20109874 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 20109874 20109874 G A SNP MBOAT1 ENST00000324607 human ensembl 70_37 -1 known missense c.1316 p.A439V 0.287 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 48 31 39.24 69 0 0.00 MBOAT7 79143 genome.wustl.edu 37 19 54677796 54677796 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 54677796 54677796 C T SNP MBOAT7 ENST00000245615 human ensembl 70_37 -1 known missense c.1361 p.R454Q 0.587 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 27 25 48.08 57 0 0.00 MBOAT7 79143 genome.wustl.edu 37 19 54691159 54691159 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 54691159 54691159 C T SNP MBOAT7 ENST00000245615 human ensembl 70_37 -1 known missense c.217 p.A73T 0.995 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 16 7 30.43 76 0 0.00 MBOAT7 79143 genome.wustl.edu 37 19 54691188 54691188 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54691188 54691188 C T SNP MBOAT7 ENST00000495968 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MBOAT7 HGNC ENSG00000125505 51 13 20.31 81 0 0.00 MBTD1 54799 genome.wustl.edu 37 17 49279025 49279025 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 49279025 49279025 G A SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known silent c.1152 p.F384 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 49 16 24.62 52 0 0.00 MBTD1 54799 genome.wustl.edu 37 17 49281154 49281154 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 49281154 49281154 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.737 p.R246T 1.000 pfam_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 40 6 13.04 42 0 0.00 MBTD1 54799 genome.wustl.edu 37 17 49281254 49281254 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 49281254 49281254 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.637 p.E213Q 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 44 15 25.42 69 0 0.00 MBTD1 54799 genome.wustl.edu 37 17 49284274 49284274 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 49284274 49284274 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.579 p.W193C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 71 18 20.22 116 0 0.00 MBTD1 54799 genome.wustl.edu 37 17 49302481 49302481 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 49302481 49302481 G A SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known silent c.42 p.S14 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 39 5 11.36 27 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84099344 84099344 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 84099344 84099344 C T SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known silent c.2382 p.A794 0.054 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 41 21 33.87 60 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84101352 84101352 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 84101352 84101352 G A SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known silent c.2148 p.N716 0.192 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 21 32 60.38 26 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84102009 84102009 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 84102009 84102009 C T SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known missense c.2006 p.R669K 1.000 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 26 12 31.58 49 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84103572 84103572 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 16 84103572 84103572 C T SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known silent c.1854 p.P618 0.790 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 116 51 30.54 106 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84132749 84132749 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 84132749 84132749 C G SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known missense c.330 p.Q110H 1.000 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 40 39 49.37 76 0 0.00 MBTPS1 8720 genome.wustl.edu 37 16 84132775 84132775 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 84132775 84132775 C G SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known missense c.304 p.E102Q 1.000 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 39 38 49.35 74 0 0.00 MC1R 4157 genome.wustl.edu 37 16 89980899 89980899 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 16 89980899 89980899 C T SNP MC1R ENST00000539976 human ensembl 70_37 +1 known rna NULL NULL 0.407 - - - no_errors MC1R HGNC ENSG00000258839 36 5 12.20 52 0 0.00 MC1R 4157 genome.wustl.edu 37 16 89981102 89981102 + RNA SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 89981102 89981102 T C SNP MC1R ENST00000539976 human ensembl 70_37 +1 known rna NULL NULL 0.654 - - - no_errors MC1R HGNC ENSG00000258839 35 5 11.90 35 0 0.00 MC1R 4157 genome.wustl.edu 37 16 89981138 89981138 + RNA SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 89981138 89981138 T C SNP MC1R ENST00000539976 human ensembl 70_37 +1 known rna NULL NULL 0.439 - - - no_errors MC1R HGNC ENSG00000258839 23 5 17.86 19 0 0.00 MC1R 4157 genome.wustl.edu 37 16 89985855 89985855 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 89985855 89985855 C T SNP MC1R ENST00000555147 human ensembl 70_37 +1 known silent c.189 p.I63 0.009 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 69 12 14.81 84 0 0.00 MC1R 4157 genome.wustl.edu 37 16 89987153 89987153 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89987153 89987153 C G SNP MC1R ENST00000555427 human ensembl 70_37 +1 putative missense c.1106 p.S369C 0.005 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 38 11 22.45 57 0 0.00 MC2R 4158 genome.wustl.edu 37 18 13884966 13884966 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 18 13884966 13884966 C T SNP MC2R ENST00000327606 human ensembl 70_37 -1 known silent c.552 p.L184 0.257 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 26 6 18.75 35 0 0.00 MC2R 4158 genome.wustl.edu 37 18 13884993 13884993 + Silent SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 18 13884993 13884993 C A SNP MC2R ENST00000327606 human ensembl 70_37 -1 known silent c.525 p.V175 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 23 26 53.06 50 0 0.00 MC2R 4158 genome.wustl.edu 37 18 13885164 13885164 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 13885164 13885164 G C SNP MC2R ENST00000327606 human ensembl 70_37 -1 known missense c.354 p.I118M 0.702 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 37 17 31.48 48 0 0.00 MC3R 4159 genome.wustl.edu 37 20 54823970 54823970 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 54823970 54823970 C T SNP MC3R ENST00000243911 human ensembl 70_37 +1 known missense c.71 p.P24L 0.084 prints_Mcort_3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 16 13 44.83 26 0 0.00 MC3R 4159 genome.wustl.edu 37 20 54824520 54824520 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 54824520 54824520 C T SNP MC3R ENST00000243911 human ensembl 70_37 +1 known silent c.621 p.Y207 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 64 12 15.79 62 0 0.00 MC5R 4161 genome.wustl.edu 37 18 13825791 13825791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 13825791 13825791 C A SNP MC5R ENST00000324750 human ensembl 70_37 +1 known missense c.27 p.F9L 0.806 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 23 20 46.51 77 0 0.00 MC5R 4161 genome.wustl.edu 37 18 13825853 13825853 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 13825853 13825853 C T SNP MC5R ENST00000324750 human ensembl 70_37 +1 known missense c.89 p.S30F 0.023 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 82 19 18.81 99 0 0.00 MCAM 4162 genome.wustl.edu 37 11 119185550 119185550 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 119185550 119185550 G A SNP MCAM ENST00000264036 human ensembl 70_37 -1 known silent c.393 p.R131 0.005 smart_Ig_sub pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC ENSG00000076706 36 16 30.77 65 0 0.00 MCAT 27349 genome.wustl.edu 37 22 43529286 43529286 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 22 43529286 43529286 G C SNP MCAT ENST00000290429 human ensembl 70_37 -1 known missense c.936 p.I312M 0.999 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 56 29 34.12 90 0 0.00 MCC 4163 genome.wustl.edu 37 5 112363160 112363160 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 112363160 112363160 C G SNP MCC ENST00000302475 human ensembl 70_37 -1 known missense c.2329 p.E777Q 1.000 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 53 43 44.79 131 0 0.00 MCC 4163 genome.wustl.edu 37 5 112389569 112389569 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 112389569 112389569 C T SNP MCC ENST00000302475 human ensembl 70_37 -1 known silent c.1731 p.K577 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 44 8 15.38 45 0 0.00 MCC 4163 genome.wustl.edu 37 5 112418618 112418618 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 112418618 112418618 C T SNP MCC ENST00000302475 human ensembl 70_37 -1 known missense c.1153 p.G385R 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 57 22 27.85 73 0 0.00 MCC 4163 genome.wustl.edu 37 5 112437442 112437442 + Silent SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 112437442 112437442 C A SNP MCC ENST00000302475 human ensembl 70_37 -1 known silent c.822 p.R274 0.999 pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 58 9 13.43 43 0 0.00 MCC 4163 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 70_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MCC HGNC ENSG00000171444 8 3 27.27 10 0 0.00 MCCC2 64087 genome.wustl.edu 37 5 70930872 70930872 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 70930872 70930872 G A SNP MCCC2 ENST00000505787 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MCCC2 HGNC ENSG00000131844 36 17 32.08 60 0 0.00 MCCD1 401250 genome.wustl.edu 37 6 31496834 31496834 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31496834 31496834 C T SNP MCCD1 ENST00000376191 human ensembl 70_37 +1 known missense c.43 p.R15C 0.151 NULL NULL - no_errors MCCD1 HGNC ENSG00000204511 21 15 41.67 38 0 0.00 MCF2 4168 genome.wustl.edu 37 X 138678828 138678828 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 138678828 138678828 G C SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.2592 p.F864L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 67 15 18.29 110 0 0.00 MCF2 4168 genome.wustl.edu 37 X 138698554 138698554 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 138698554 138698554 G A SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known nonsense c.1513 p.Q505* 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 77 11 12.50 99 0 0.00 MCF2 4168 genome.wustl.edu 37 X 138711977 138711977 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 138711977 138711977 C T SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known silent c.750 p.V250 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 64 14 17.95 49 0 0.00 MCF2 4168 genome.wustl.edu 37 X 138728984 138728984 + Missense_Mutation SNP A A G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 138728984 138728984 A G SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.359 p.I120T 0.235 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 20 8 28.57 21 0 0.00 MCF2 4168 genome.wustl.edu 37 X 138774282 138774282 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 138774282 138774282 C A SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.3 p.M1I 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 90 33 26.83 14 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113556531 113556531 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113556531 113556531 G C SNP MCF2L ENST00000375608 human ensembl 70_37 +1 known missense c.15 p.W5C 0.999 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 44 11 20.00 29 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113571437 113571437 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113571437 113571437 G A SNP MCF2L ENST00000442625 human ensembl 70_37 +1 known missense c.179 p.R60Q 0.001 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 46 14 23.33 49 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113681259 113681259 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 113681259 113681259 G A SNP MCF2L ENST00000397024 human ensembl 70_37 +1 putative missense c.349 p.D117N 0.001 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 60 23 27.71 88 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113700995 113700995 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 113700995 113700995 G A SNP MCF2L ENST00000480321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MCF2L HGNC ENSG00000126217 48 6 11.11 29 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113708711 113708711 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 13 113708711 113708711 G A SNP MCF2L ENST00000494043 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MCF2L HGNC ENSG00000126217 24 13 35.14 45 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113720424 113720424 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 113720424 113720424 C G SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.992 p.A331G 0.010 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 53 30 36.14 65 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113730449 113730449 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 113730449 113730449 C A SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.1649 p.S550Y 0.006 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 14 6 30.00 12 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113741698 113741698 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 113741698 113741698 C G SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2694 p.F898L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 27 21 43.75 38 0 0.00 MCF2L 23263 genome.wustl.edu 37 13 113742677 113742677 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113742677 113742677 G A SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 150 28 15.73 202 1 0.49 MCF2L 23263 genome.wustl.edu 37 13 113742717 113742717 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 113742717 113742717 G C SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2936 p.R979T 0.998 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 23 6 20.69 29 0 0.00 MCF2L2 23101 genome.wustl.edu 37 3 182933869 182933869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 182933869 182933869 C A SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.2384 p.R795I 0.858 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 26 33 55.93 63 0 0.00 MCF2L2 23101 genome.wustl.edu 37 3 182937697 182937697 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 182937697 182937697 C T SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.2317 p.E773K 0.962 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 15 19 55.88 24 0 0.00 MCF2L2 23101 genome.wustl.edu 37 3 183014773 183014773 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 183014773 183014773 G C SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known silent c.1488 p.L496 0.131 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 52 37 41.57 115 0 0.00 MCF2L2 23101 genome.wustl.edu 37 3 183041027 183041027 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 3 183041027 183041027 C T SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.599 p.R200H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 20 19 48.72 35 0 0.00 MCF2L2 23101 genome.wustl.edu 37 3 183145719 183145719 + Missense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 183145719 183145719 C G SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.47 p.R16P 1.000 pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 65 17 20.73 59 0 0.00 MCFD2 90411 genome.wustl.edu 37 2 47135004 47135004 + Missense_Mutation SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 47135004 47135004 T C SNP MCFD2 ENST00000319466 human ensembl 70_37 -1 known missense c.254 p.N85S 1.000 NULL pfscan_EF_HAND_2 - no_errors MCFD2 HGNC ENSG00000180398 46 9 16.36 33 0 0.00 MCHR1 2847 genome.wustl.edu 37 22 41075624 41075624 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 41075624 41075624 C T SNP MCHR1 ENST00000249016 human ensembl 70_37 +1 known missense c.175 p.R59W 0.008 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 33 15 31.25 36 0 0.00 MCHR1 2847 genome.wustl.edu 37 22 41077812 41077812 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 41077812 41077812 C T SNP MCHR1 ENST00000249016 human ensembl 70_37 +1 known silent c.1149 p.L383 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 23 14 37.84 56 0 0.00 MCHR2 84539 genome.wustl.edu 37 6 100368918 100368918 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 100368918 100368918 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known silent c.921 p.I307 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 193 33 14.47 230 0 0.00 MCHR2 84539 genome.wustl.edu 37 6 100390912 100390912 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 100390912 100390912 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.500 p.P167L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 107 12 10.08 98 0 0.00 MCHR2 84539 genome.wustl.edu 37 6 100391006 100391006 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 100391006 100391006 C T SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.406 p.V136I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 17 14 45.16 51 0 0.00 MCHR2 84539 genome.wustl.edu 37 6 100403984 100403984 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 100403984 100403984 C T SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.40 p.E14K 0.912 prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 54 26 32.50 51 0 0.00 MCHR2 84539 genome.wustl.edu 37 6 100403985 100403985 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 100403985 100403985 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known silent c.39 p.A13 0.202 prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 36 15 29.41 62 0 0.00 MCL1 4170 genome.wustl.edu 37 1 150550970 150550970 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 150550970 150550970 G A SNP MCL1 ENST00000464132 human ensembl 70_37 -1 known rna NULL NULL 0.416 - - - no_errors MCL1 HGNC ENSG00000143384 23 7 23.33 53 0 0.00 MCL1 4170 genome.wustl.edu 37 1 150551522 150551522 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 150551522 150551522 G C SNP MCL1 ENST00000369026 human ensembl 70_37 -1 known missense c.485 p.S162W 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 56 41 42.27 76 0 0.00 MCL1 4170 genome.wustl.edu 37 1 150551971 150551971 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 150551971 150551971 G T SNP MCL1 ENST00000369026 human ensembl 70_37 -1 known silent c.36 p.L12 0.947 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 9 4 30.77 9 0 0.00 MCM10 55388 genome.wustl.edu 37 10 13217641 13217641 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 13217641 13217641 C G SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.727 p.Q243E 0.005 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 23 11 32.35 37 0 0.00 MCM10 55388 genome.wustl.edu 37 10 13233298 13233298 + Splice_Site DEL G G - TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 10 13233298 13233298 G - DEL MCM10 ENST00000361282 human ensembl 70_37 +1 known splice_site_del c.1419-1 e10-1 0.997 - - - no_errors MCM10 HGNC ENSG00000065328 49 8 14.04 47 0 0.00 MCM10 55388 genome.wustl.edu 37 10 13234490 13234490 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 13234490 13234490 C T SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.1670 p.S557L 1.000 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 31 18 36.73 52 0 0.00 MCM10 55388 genome.wustl.edu 37 10 13234536 13234536 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 13234536 13234536 G C SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.1716 p.M572I 0.576 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 24 10 29.41 17 0 0.00 MCM2 4171 genome.wustl.edu 37 3 127323781 127323781 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 3 127323781 127323781 G A SNP MCM2 ENST00000265056 human ensembl 70_37 +1 known missense c.455 p.R152H 1.000 pfam_MCM_2 pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 78 21 21.21 87 0 0.00 MCM2 4171 genome.wustl.edu 37 3 127327821 127327821 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 127327821 127327821 G A SNP MCM2 ENST00000265056 human ensembl 70_37 +1 known silent c.1383 p.V461 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 78 17 17.71 38 0 0.00 MCM3AP 8888 genome.wustl.edu 37 21 47690437 47690437 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47690437 47690437 C A SNP MCM3AP ENST00000291688 human ensembl 70_37 -1 known nonsense c.2506 p.E836* 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 32 21 39.62 63 0 0.00 MCM3AP 8888 genome.wustl.edu 37 21 47700456 47700456 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 21 47700456 47700456 T G SNP MCM3AP ENST00000291688 human ensembl 70_37 -1 known missense c.1477 p.S493R 0.038 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 23 10 30.30 34 0 0.00 MCM3AP-AS1 114044 genome.wustl.edu 37 21 47662235 47662235 + RNA DEL T T - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 47662235 47662235 T - DEL MCM3AP-AS1 ENST00000421927 human ensembl 70_37 +1 known rna NULL NULL 0.165 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 13 4 23.53 39 0 0.00 MCM3AP-AS1 114044 genome.wustl.edu 37 21 47669673 47669673 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 47669673 47669673 C T SNP MCM3AP-AS1 ENST00000414659 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 45 5 10.00 45 0 0.00 MCM3AP-AS1 114044 genome.wustl.edu 37 21 47671275 47671276 + RNA INS - - AAT TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 21 47671275 47671276 - AAT INS MCM3AP-AS1 ENST00000414659 human ensembl 70_37 +1 known rna NULL NULL 0.131:0.098 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 7 7 50.00 9 0 0.00 MCM4 4173 genome.wustl.edu 37 8 48880005 48880005 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48880005 48880005 C G SNP MCM4 ENST00000262105 human ensembl 70_37 +1 known silent c.1134 p.L378 0.312 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 62 37 36.27 76 0 0.00 MCM5 4174 genome.wustl.edu 37 22 35804402 35804402 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 35804402 35804402 G A SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 53 20 27.03 70 0 0.00 MCM5 4174 genome.wustl.edu 37 22 35804446 35804446 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 35804446 35804446 C T SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known silent c.642 p.I214 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 19 25 56.82 73 0 0.00 MCM5 4174 genome.wustl.edu 37 22 35820213 35820213 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 22 35820213 35820213 C T SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known missense c.2170 p.R724C 1.000 NULL pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 39 27 40.91 47 0 0.00 MCM6 4175 genome.wustl.edu 37 2 136626216 136626216 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 136626216 136626216 C T SNP MCM6 ENST00000264156 human ensembl 70_37 -1 known missense c.580 p.D194N 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 39 9 18.75 34 0 0.00 MCM7 4176 genome.wustl.edu 37 7 99693763 99693763 + Nonsense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 99693763 99693763 G C SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1229 p.S410* 0.999 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 31 17 35.42 47 0 0.00 MCM7 4176 genome.wustl.edu 37 7 99695255 99695255 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 99695255 99695255 G A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 29 13 30.95 40 0 0.00 MCM7 4176 genome.wustl.edu 37 7 99695255 99695255 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 99695255 99695255 G A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 336 125 27.06 465 0 0.00 MCM7 4176 genome.wustl.edu 37 7 99696993 99696993 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 99696993 99696993 C A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.310 p.E104* 1.000 superfamily_NA-bd_OB-fold-like pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 113 24 17.52 154 0 0.00 MCM7 4176 genome.wustl.edu 37 7 99696993 99696993 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 99696993 99696993 C A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.310 p.E104* 1.000 superfamily_NA-bd_OB-fold-like pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 32 8 20.00 27 0 0.00 MCM8 84515 genome.wustl.edu 37 20 5965590 5965590 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 5965590 5965590 T C SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known missense c.2017 p.S673P 0.991 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 18 3 14.29 57 0 0.00 MCM8 84515 genome.wustl.edu 37 20 5974253 5974253 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 5974253 5974253 C G SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known missense c.2462 p.S821C 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 70 25 26.32 101 0 0.00 MCM8 84515 genome.wustl.edu 37 20 5974260 5974260 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 5974260 5974260 C T SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known silent c.2469 p.L823 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 30 9 23.08 35 0 0.00 MCM9 254394 genome.wustl.edu 37 6 119136036 119136036 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 119136036 119136036 T C SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.3383 p.D1128G 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 17 8 32.00 37 0 0.00 MCM9 254394 genome.wustl.edu 37 6 119136454 119136454 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 119136454 119136454 C T SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.2965 p.E989K 0.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 116 19 14.07 119 0 0.00 MCM9 254394 genome.wustl.edu 37 6 119147332 119147332 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 119147332 119147332 C T SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.1939 p.E647K 0.990 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 51 12 19.05 80 0 0.00 MCMDC2 157777 genome.wustl.edu 37 8 67796113 67796113 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 67796113 67796113 C T SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known silent c.957 p.Y319 1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 9 7 43.75 36 0 0.00 MCMDC2 157777 genome.wustl.edu 37 8 67808472 67808472 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 67808472 67808472 G C SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known missense c.1347 p.Q449H 0.995 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 49 23 31.94 50 0 0.00 MCMDC2 157777 genome.wustl.edu 37 8 67817467 67817467 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 67817467 67817467 C T SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known silent c.1776 p.F592 0.957 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 28 7 20.00 31 0 0.00 MCOLN1 57192 genome.wustl.edu 37 19 7593569 7593569 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7593569 7593569 C T SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known nonsense c.964 p.R322* 0.882 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 41 6 12.77 28 0 0.00 MCOLN1 57192 genome.wustl.edu 37 19 7595300 7595300 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 7595300 7595300 C T SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known silent c.1488 p.L496 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 33 18 35.29 63 0 0.00 MCOLN1 57192 genome.wustl.edu 37 19 7595354 7595354 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 7595354 7595354 C T SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known silent c.1542 p.I514 0.988 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 16 9 36.00 30 0 0.00 MCOLN1 57192 genome.wustl.edu 37 19 7595360 7595360 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 7595360 7595360 C G SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known silent c.1548 p.L516 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 24 16 40.00 48 0 0.00 MCOLN2 255231 genome.wustl.edu 37 1 85424280 85424280 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 85424280 85424280 C G SNP MCOLN2 ENST00000370608 human ensembl 70_37 -1 known missense c.343 p.D115H 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 12 4 25.00 22 0 0.00 MCOLN2 255231 genome.wustl.edu 37 1 85462586 85462586 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 85462586 85462586 C T SNP MCOLN2 ENST00000531325 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors MCOLN2 HGNC ENSG00000153898 29 29 50.00 47 0 0.00 MCOLN3 55283 genome.wustl.edu 37 1 85510918 85510918 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 85510918 85510918 G C SNP MCOLN3 ENST00000302814 human ensembl 70_37 -1 known silent c.126 p.L42 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 18 13 41.94 33 0 0.00 MCOLN3 55283 genome.wustl.edu 37 1 85510984 85510984 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 85510984 85510984 G A SNP MCOLN3 ENST00000302814 human ensembl 70_37 -1 known silent c.60 p.C20 0.267 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 13 11 45.83 31 0 0.00 MCPH1 79648 genome.wustl.edu 37 8 6266851 6266851 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 6266851 6266851 C G SNP MCPH1 ENST00000344683 human ensembl 70_37 +1 known nonsense c.74 p.S25* 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 27 15 35.71 33 0 0.00 MCRS1 10445 genome.wustl.edu 37 12 49953006 49953006 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 49953006 49953006 G T SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known silent c.1204 p.R402 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 38 6 13.64 40 0 0.00 MCRS1 10445 genome.wustl.edu 37 12 49958304 49958304 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 49958304 49958304 C G SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known missense c.556 p.E186Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 31 5 13.89 29 0 0.00 MCRS1 10445 genome.wustl.edu 37 12 49958552 49958552 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 49958552 49958552 C T SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known missense c.454 p.D152N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 107 14 11.57 130 0 0.00 MCTP1 79772 genome.wustl.edu 37 5 94046549 94046549 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 94046549 94046549 G A SNP MCTP1 ENST00000515393 human ensembl 70_37 -1 known missense c.2804 p.P935L 1.000 pfam_PRibTrfase_C pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 47 43 47.78 91 0 0.00 MCTP2 55784 genome.wustl.edu 37 15 94858857 94858857 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 94858857 94858857 G A SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known missense c.628 p.D210N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 87 23 20.91 87 0 0.00 MCTP2 55784 genome.wustl.edu 37 15 94899419 94899419 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 94899419 94899419 C G SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known silent c.1059 p.L353 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 43 7 14.00 32 0 0.00 MCTP2 55784 genome.wustl.edu 37 15 94945136 94945136 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 94945136 94945136 C G SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known nonsense c.1973 p.S658* 0.997 NULL pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 4 2 33.33 27 0 0.00 MCTP2 55784 genome.wustl.edu 37 15 95001386 95001386 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 95001386 95001386 G C SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known missense c.2271 p.L757F 0.857 pfam_PRibTrfase_C pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 45 30 39.47 86 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30671436 30671436 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 30671436 30671436 C T SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.5524 p.E1842K 0.649 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 85 18 17.48 38 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30671987 30671987 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30671987 30671987 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.4973 p.S1658F 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 100 78 43.82 112 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30672609 30672609 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 30672609 30672609 T C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.4351 p.T1451A 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 90 28 23.73 105 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30673161 30673161 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 30673161 30673161 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.3799 p.Q1267E 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 124 16 11.27 123 1 0.81 MDC1 9656 genome.wustl.edu 37 6 30675414 30675414 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30675414 30675414 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.2942 p.S981L 0.486 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 53 31 36.90 64 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30680439 30680439 + Nonsense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 30680439 30680439 C T SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.1280 p.W427* 0.772 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 10 9 47.37 20 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30680935 30680935 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 30680935 30680935 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.784 p.Q262* 0.017 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 30 19 38.78 51 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30681015 30681015 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30681015 30681015 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.704 p.S235* 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 16 12 42.86 16 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30681690 30681690 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30681690 30681690 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.407 p.S136C 0.013 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 39 6 13.33 15 0 0.00 MDC1 9656 genome.wustl.edu 37 6 30681692 30681692 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30681692 30681692 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known silent c.405 p.V135 0.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 27 14 34.15 21 0 0.00 MDFIC 29969 genome.wustl.edu 37 7 114655985 114655985 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 114655985 114655985 C T SNP MDFIC ENST00000393486 human ensembl 70_37 +1 known missense c.737 p.S246L 1.000 NULL NULL - no_errors MDFIC HGNC ENSG00000135272 16 8 33.33 31 0 0.00 MDGA1 266727 genome.wustl.edu 37 6 37605156 37605156 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 37605156 37605156 C T SNP MDGA1 ENST00000297153 human ensembl 70_37 -1 known silent c.2868 p.A956 0.855 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 7 10 58.82 25 0 0.00 MDGA1 266727 genome.wustl.edu 37 6 37619916 37619916 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 37619916 37619916 C T SNP MDGA1 ENST00000297153 human ensembl 70_37 -1 known missense c.1183 p.A395T 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 51 10 16.39 89 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47314992 47314992 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 47314992 47314992 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2966 p.A989V 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 33 26 44.07 94 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47343356 47343356 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 47343356 47343356 G C SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2485 p.Q829E 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 78 9 10.34 73 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47351300 47351300 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 47351300 47351300 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2363 p.P788L 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 26 22 44.90 48 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47504461 47504461 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 47504461 47504461 G C SNP MDGA2 ENST00000557238 human ensembl 70_37 -1 known missense c.652 p.Q218E 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 54 35 39.33 74 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47530502 47530502 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 47530502 47530502 C T SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.1475 p.G492E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 30 10 25.00 44 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47566263 47566263 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 47566263 47566263 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.989 p.T330I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 46 17 26.98 56 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47601038 47601038 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 47601038 47601038 C A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.804 p.K268N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 6 8 57.14 22 0 0.00 MDGA2 161357 genome.wustl.edu 37 14 47770696 47770696 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 47770696 47770696 C T SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.338 p.R113H 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 19 10 34.48 40 0 0.00 MDH1 4190 genome.wustl.edu 37 2 63833082 63833082 + Frame_Shift_Del DEL G G - TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 63833082 63833082 G - DEL MDH1 ENST00000539945 human ensembl 70_37 +1 known frame_shift_del c.853 p.V285fs 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 80 14 14.89 120 0 0.00 MDH1B 130752 genome.wustl.edu 37 2 207613788 207613788 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 207613788 207613788 C T SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known missense c.1172 p.G391D 0.995 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 53 17 24.29 76 0 0.00 MDH1B 130752 genome.wustl.edu 37 2 207619773 207619773 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 207619773 207619773 C T SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known silent c.870 p.A290 0.942 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 7 10 58.82 44 0 0.00 MDH1B 130752 genome.wustl.edu 37 2 207622051 207622051 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207622051 207622051 C A SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known missense c.180 p.K60N 0.002 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 17 3 15.00 40 0 0.00 MDH2 4191 genome.wustl.edu 37 7 75677414 75677414 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 75677414 75677414 C T SNP MDH2 ENST00000461263 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MDH2 HGNC ENSG00000146701 102 14 12.07 140 0 0.00 MDH2 4191 genome.wustl.edu 37 7 75689770 75689770 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 75689770 75689770 C G SNP MDH2 ENST00000315758 human ensembl 70_37 +1 known missense c.509 p.T170R 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC ENSG00000146701 34 29 46.03 48 0 0.00 MDK 4192 genome.wustl.edu 37 11 46403873 46403873 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 46403873 46403873 G C SNP MDK ENST00000489525 human ensembl 70_37 +1 known missense c.106 p.E36Q 0.705 pfam_Midkine_heparin-bd_GF_N,superfamily_Midkine_heparin-bd_GF_diS,prints_Midkine_heparin-bd_GF pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors MDK HGNC ENSG00000110492 20 15 42.86 36 0 0.00 MDK 4192 genome.wustl.edu 37 11 46404341 46404343 + In_Frame_Del DEL CCC CCC - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 11 46404341 46404343 CCC - DEL MDK ENST00000489525 human ensembl 70_37 +1 known in_frame_del c.449_451 p.P154in_frame_del 0.000:0.000:0.001 NULL pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors MDK HGNC ENSG00000110492 7 2 22.22 8 0 0.00 MDM1 56890 genome.wustl.edu 37 12 68709007 68709007 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 68709007 68709007 G A SNP MDM1 ENST00000303145 human ensembl 70_37 -1 known missense c.1220 p.S407F 0.010 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 162 36 18.00 165 0 0.00 MDM1 56890 genome.wustl.edu 37 12 68716864 68716864 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 68716864 68716864 G A SNP MDM1 ENST00000303145 human ensembl 70_37 -1 known missense c.790 p.P264S 0.993 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 48 26 35.14 71 0 0.00 MDM1 56890 genome.wustl.edu 37 12 68719811 68719811 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 68719811 68719811 C T SNP MDM1 ENST00000540476 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors MDM1 HGNC ENSG00000111554 11 10 47.62 19 0 0.00 MDM2 4193 genome.wustl.edu 37 12 69210688 69210688 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 69210688 69210688 T G SNP MDM2 ENST00000462284 human ensembl 70_37 +1 known missense c.271 p.L91V 0.996 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 25 12 32.43 59 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90354840 90354840 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 90354840 90354840 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.16496 p.R5499Q 0.996 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 26 5 16.13 11 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90372609 90372609 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 90372609 90372609 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.14314 p.D4772N 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 119 60 33.52 185 1 0.54 MDN1 23195 genome.wustl.edu 37 6 90377756 90377756 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 90377756 90377756 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.14071 p.D4691N 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 42 16 27.59 51 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90382015 90382015 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90382015 90382015 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known silent c.13698 p.V4566 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 16 10 38.46 32 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90383048 90383048 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 90383048 90383048 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13381 p.E4461K 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 54 14 20.59 83 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90383069 90383069 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 90383069 90383069 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13360 p.D4454H 0.028 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 38 26 40.62 69 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90383177 90383177 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 90383177 90383177 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13252 p.D4418H 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 20 11 35.48 48 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90383842 90383842 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 90383842 90383842 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13228 p.E4410Q 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 11 5 31.25 39 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90394655 90394655 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 90394655 90394655 G T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11769 p.F3923L 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 7 5 41.67 16 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90396657 90396657 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 90396657 90396657 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11536 p.E3846Q 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 257 32 11.07 266 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90398302 90398302 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 90398302 90398302 G A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11249 p.A3750V 0.889 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 9 15 62.50 38 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90402195 90402195 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 90402195 90402195 C A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.10554 p.Q3518H 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 15 5 25.00 25 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90422436 90422436 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 90422436 90422436 G A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.7288 p.L2430F 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 40 14 25.93 45 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90422485 90422485 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 90422485 90422485 C A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.7239 p.E2413D 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 24 12 33.33 27 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90422942 90422942 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 90422942 90422942 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known silent c.7143 p.L2381 0.990 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 14 11 44.00 36 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90424429 90424429 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90424429 90424429 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.6902 p.R2301Q 1.000 smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 25 12 32.43 54 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90435005 90435005 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 90435005 90435005 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.5583 p.K1861N 1.000 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 22 7 24.14 32 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90453374 90453374 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 90453374 90453374 G C SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.4238 p.S1413C 0.972 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 28 14 33.33 27 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90455255 90455255 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 90455255 90455255 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.3995 p.C1332Y 0.995 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 27 3 10.00 50 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90466072 90466072 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 90466072 90466072 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.2740 p.E914K 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 50 16 24.24 69 0 0.00 MDN1 23195 genome.wustl.edu 37 6 90484342 90484342 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 90484342 90484342 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.1932 p.Q644H 0.997 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 84 33 28.21 131 0 0.00 MDP1 145553 genome.wustl.edu 37 14 24683549 24683549 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 14 24683549 24683549 C G SNP MDP1 ENST00000288087 human ensembl 70_37 -1 known missense c.370 p.E124Q 1.000 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC ENSG00000213920 34 10 22.73 48 0 0.00 MDP1 145553 genome.wustl.edu 37 14 24684984 24684984 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 24684984 24684984 G A SNP MDP1 ENST00000288087 human ensembl 70_37 -1 known silent c.57 p.F19 1.000 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC ENSG00000213920 60 14 18.92 57 0 0.00 MDS2 259283 genome.wustl.edu 37 1 23908023 23908023 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23908023 23908023 C G SNP MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.539 - - - no_errors MDS2 HGNC ENSG00000197880 24 18 42.86 35 0 0.00 MDS2 259283 genome.wustl.edu 37 1 23908066 23908066 + RNA SNP T T G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 23908066 23908066 T G SNP MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors MDS2 HGNC ENSG00000197880 49 7 12.50 58 0 0.00 MDS2 259283 genome.wustl.edu 37 1 23953539 23953540 + RNA DEL GA GA - TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 23953539 23953540 GA - DEL MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors MDS2 HGNC ENSG00000197880 12 3 20.00 28 0 0.00 MDS2 259283 genome.wustl.edu 37 1 23953539 23953542 + RNA DEL GAGA GAGA - TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 23953539 23953542 GAGA - DEL MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001:0.000:0.000 - - - no_errors MDS2 HGNC ENSG00000197880 14 7 33.33 9 0 0.00 MDS2 259283 genome.wustl.edu 37 1 23966894 23966895 + In_Frame_Ins INS - - AAG TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 23966894 23966895 - AAG INS MDS2 ENST00000374555 human ensembl 70_37 +1 known in_frame_ins c.278_279 p.96in_frame_insR 0.391:0.362 NULL NULL - no_errors MDS2 HGNC ENSG00000197880 17 16 48.48 9 0 0.00 ME1 4199 genome.wustl.edu 37 6 83933564 83933564 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 83933564 83933564 G T SNP ME1 ENST00000369705 human ensembl 70_37 -1 known missense c.1364 p.S455Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 14 12 46.15 36 0 0.00 ME2 4200 genome.wustl.edu 37 18 48442582 48442582 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 48442582 48442582 T C SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.437 p.I146T 1.000 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 65 21 24.42 93 0 0.00 ME2 4200 genome.wustl.edu 37 18 48446854 48446854 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 48446854 48446854 G A SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.763 p.E255K 1.000 pfam_Malic_N,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 15 8 34.78 45 0 0.00 ME2 4200 genome.wustl.edu 37 18 48450510 48450510 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 48450510 48450510 C T SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.1099 p.H367Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 23 14 37.84 33 0 0.00 MECOM 2122 genome.wustl.edu 37 3 168819948 168819948 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 168819948 168819948 C T SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.2644 p.E882K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 64 9 12.33 36 0 0.00 MECOM 2122 genome.wustl.edu 37 3 168833226 168833226 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 168833226 168833226 C G SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.2434 p.D812H 0.998 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 129 36 21.82 81 0 0.00 MECOM 2122 genome.wustl.edu 37 3 168834457 168834457 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 168834457 168834457 G C SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.1203 p.C401W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 54 15 21.74 44 0 0.00 MECP2 4204 genome.wustl.edu 37 X 153296200 153296200 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153296200 153296200 G A SNP MECP2 ENST00000303391 human ensembl 70_37 -1 known missense c.1079 p.S360L 0.993 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 62 28 31.11 74 0 0.00 MECP2 4204 genome.wustl.edu 37 X 153296613 153296613 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153296613 153296613 G A SNP MECP2 ENST00000303391 human ensembl 70_37 -1 known silent c.666 p.V222 1.000 superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 370 108 22.59 528 0 0.00 MECR 51102 genome.wustl.edu 37 1 29533354 29533354 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 29533354 29533354 G A SNP MECR ENST00000263702 human ensembl 70_37 -1 known missense c.470 p.P157L 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 18 9 33.33 55 0 0.00 MED1 5469 genome.wustl.edu 37 17 37563901 37563902 + Frame_Shift_Ins INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 37563901 37563902 - T INS MED1 ENST00000300651 human ensembl 70_37 -1 known frame_shift_ins c.4573_4572 p.S1524fs 1.000:1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 31 23 42.59 24 0 0.00 MED1 5469 genome.wustl.edu 37 17 37563901 37563902 + Frame_Shift_Ins INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 37563901 37563902 - T INS MED1 ENST00000300651 human ensembl 70_37 -1 known frame_shift_ins c.4573_4572 p.S1524fs 1.000:1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 71 42 37.17 117 0 0.00 MED1 5469 genome.wustl.edu 37 17 37565069 37565069 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37565069 37565069 C G SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.3405 p.Q1135H 0.953 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 51 13 20.31 78 0 0.00 MED1 5469 genome.wustl.edu 37 17 37565278 37565278 + Nonsense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 37565278 37565278 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.3196 p.Q1066* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 51 13 20.31 38 0 0.00 MED1 5469 genome.wustl.edu 37 17 37565328 37565328 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37565328 37565328 G C SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.3146 p.S1049C 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 181 42 18.83 261 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566171 37566171 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566171 37566171 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.2303 p.R768Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 47 21 30.88 74 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566301 37566301 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566301 37566301 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.2173 p.D725N 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 53 10 15.87 52 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566664 37566664 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566664 37566664 G C SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1810 p.L604V 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 48 17 26.15 84 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566877 37566877 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 37566877 37566877 C G SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1597 p.E533Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 22 12 34.29 18 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566919 37566919 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 37566919 37566919 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.1555 p.Q519* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 119 33 20.12 134 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566919 37566919 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 37566919 37566919 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.1555 p.Q519* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 47 17 26.56 21 0 0.00 MED1 5469 genome.wustl.edu 37 17 37566950 37566950 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566950 37566950 C A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1524 p.M508I 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 19 6 24.00 19 0 0.00 MED1 5469 genome.wustl.edu 37 17 37571569 37571569 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 37571569 37571569 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1321 p.E441K 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 36 19 34.55 51 0 0.00 MED1 5469 genome.wustl.edu 37 17 37571589 37571589 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 37571589 37571589 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1301 p.S434F 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 19 7 25.93 30 0 0.00 MED1 5469 genome.wustl.edu 37 17 37588194 37588194 + Splice_Site SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 37588194 37588194 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known splice_site c.575+1 e8+1 1.000 - - - no_errors MED1 HGNC ENSG00000125686 61 10 14.08 33 0 0.00 MED1 5469 genome.wustl.edu 37 17 37604118 37604118 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 37604118 37604118 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.65 p.R22Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 110 19 14.73 189 0 0.00 MED1 5469 genome.wustl.edu 37 17 37604118 37604118 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 37604118 37604118 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.65 p.R22Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 56 15 21.13 36 0 0.00 MED10 84246 genome.wustl.edu 37 5 6374449 6374449 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 6374449 6374449 G A SNP MED10 ENST00000255764 human ensembl 70_37 -1 known silent c.297 p.I99 0.019 pfam_Mediator_Med10 pfam_Mediator_Med10 - no_errors MED10 HGNC ENSG00000133398 24 16 40.00 29 0 0.00 MED11 400569 genome.wustl.edu 37 17 4634813 4634813 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4634813 4634813 G T SNP MED11 ENST00000293777 human ensembl 70_37 +1 known missense c.29 p.R10I 1.000 pfam_Mediator_Med11 pfam_Mediator_Med11 - no_errors MED11 HGNC ENSG00000161920 42 18 30.00 56 0 0.00 MED11 400569 genome.wustl.edu 37 17 4636385 4636385 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4636385 4636385 C T SNP MED11 ENST00000293777 human ensembl 70_37 +1 known missense c.257 p.S86L 0.989 pfam_Mediator_Med11 pfam_Mediator_Med11 - no_errors MED11 HGNC ENSG00000161920 46 33 41.77 89 0 0.00 MED12 9968 genome.wustl.edu 37 X 70338671 70338671 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde X 70338671 70338671 G T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.67 p.D23Y 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 18 17 48.57 62 0 0.00 MED12 9968 genome.wustl.edu 37 X 70341487 70341487 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 70341487 70341487 C G SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.922 p.Q308E 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 42 11 20.75 56 0 0.00 MED12 9968 genome.wustl.edu 37 X 70341568 70341568 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 70341568 70341568 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known nonsense c.1003 p.Q335* 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 28 9 24.32 51 0 0.00 MED12 9968 genome.wustl.edu 37 X 70341573 70341573 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 70341573 70341573 C G SNP MED12 ENST00000333646 human ensembl 70_37 +1 known silent c.1008 p.P336 0.819 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 37 13 26.00 35 0 0.00 MED12 9968 genome.wustl.edu 37 X 70342153 70342153 + Missense_Mutation SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 X 70342153 70342153 C A SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.1205 p.S402Y 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 123 40 24.54 100 0 0.00 MED12 9968 genome.wustl.edu 37 X 70342457 70342457 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 70342457 70342457 G C SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.1348 p.G450R 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 52 7 11.86 38 0 0.00 MED12 9968 genome.wustl.edu 37 X 70344125 70344125 + Nonsense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 70344125 70344125 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known nonsense c.1861 p.R621* 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 46 21 31.34 69 0 0.00 MED12 9968 genome.wustl.edu 37 X 70346188 70346188 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 70346188 70346188 C G SNP MED12 ENST00000471663 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MED12 HGNC ENSG00000184634 90 24 21.05 51 0 0.00 MED12 9968 genome.wustl.edu 37 X 70348264 70348264 + Missense_Mutation SNP T T C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 70348264 70348264 T C SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.3328 p.F1110L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 184 39 17.41 242 0 0.00 MED12 9968 genome.wustl.edu 37 X 70357069 70357069 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70357069 70357069 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.5584 p.R1862C 0.993 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 21 11 34.38 46 0 0.00 MED12L 116931 genome.wustl.edu 37 3 150873999 150873999 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 150873999 150873999 C G SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.608 p.S203C 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 112 32 22.22 133 0 0.00 MED12L 116931 genome.wustl.edu 37 3 150883767 150883767 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 150883767 150883767 G C SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.1492 p.E498Q 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 22 6 21.43 31 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151067972 151067972 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 151067972 151067972 G A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.2271 p.K757 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 146 49 25.13 206 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151087234 151087234 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 151087234 151087234 C A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 193 36 15.72 64 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151095907 151095907 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 151095907 151095907 G A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.4319 p.G1440E 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 40 15 27.27 49 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151105723 151105723 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 151105723 151105723 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.5109 p.Y1703 0.205 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 86 10 10.42 64 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151107867 151107867 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 151107867 151107867 T A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.5447 p.L1816H 0.981 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 320 53 14.21 305 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151130966 151130966 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 151130966 151130966 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.6075 p.G2025 0.160 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 47 12 20.34 57 0 0.00 MED12L 116931 genome.wustl.edu 37 3 151131027 151131027 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 151131027 151131027 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known nonsense c.6136 p.Q2046* 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 37 12 24.49 55 0 0.00 MED13 9969 genome.wustl.edu 37 17 60038353 60038353 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 60038353 60038353 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5355 p.Q1785H 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 22 13 37.14 26 0 0.00 MED13 9969 genome.wustl.edu 37 17 60038436 60038436 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 60038436 60038436 G A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known nonsense c.5272 p.R1758* 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 18 10 35.71 32 0 0.00 MED13 9969 genome.wustl.edu 37 17 60038445 60038445 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60038445 60038445 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5263 p.E1755K 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 6 8 57.14 14 0 0.00 MED13 9969 genome.wustl.edu 37 17 60039009 60039009 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 60039009 60039009 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known silent c.5196 p.V1732 0.992 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 20 14 41.18 49 0 0.00 MED13 9969 genome.wustl.edu 37 17 60039092 60039092 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60039092 60039092 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5113 p.E1705K 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 50 20 28.57 49 0 0.00 MED13 9969 genome.wustl.edu 37 17 60040170 60040170 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60040170 60040170 G A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known silent c.5007 p.C1669 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 25 9 25.71 33 0 0.00 MED13 9969 genome.wustl.edu 37 17 60040171 60040171 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 60040171 60040171 C A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5006 p.C1669F 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 27 9 25.00 33 0 0.00 MED13 9969 genome.wustl.edu 37 17 60050199 60050199 + Nonsense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 60050199 60050199 G A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known nonsense c.3856 p.Q1286* 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 36 10 21.74 50 0 0.00 MED13 9969 genome.wustl.edu 37 17 60059745 60059745 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60059745 60059745 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3619 p.D1207H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 48 19 28.36 45 0 0.00 MED13 9969 genome.wustl.edu 37 17 60059974 60059974 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60059974 60059974 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3390 p.M1130I 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 25 13 34.21 60 0 0.00 MED13 9969 genome.wustl.edu 37 17 60060246 60060246 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60060246 60060246 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3118 p.D1040H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 39 39 50.00 51 0 0.00 MED13 9969 genome.wustl.edu 37 17 60107314 60107314 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 60107314 60107314 G C SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.1070 p.S357C 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 14 19 57.58 25 0 0.00 MED13L 23389 genome.wustl.edu 37 12 116457130 116457130 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 116457130 116457130 C T SNP MED13L ENST00000281928 human ensembl 70_37 -1 known missense c.908 p.G303D 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 30 17 36.17 40 0 0.00 MED13L 23389 genome.wustl.edu 37 12 116675500 116675500 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 116675500 116675500 G A SNP MED13L ENST00000281928 human ensembl 70_37 -1 known missense c.83 p.T28M 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 74 50 40.32 129 0 0.00 MED14 9282 genome.wustl.edu 37 X 40518558 40518558 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40518558 40518558 G A SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.3893 p.T1298M 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 24 25 51.02 86 0 0.00 MED14 9282 genome.wustl.edu 37 X 40539379 40539379 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40539379 40539379 A G SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.2617 p.F873L 0.990 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 25 15 37.50 42 0 0.00 MED14 9282 genome.wustl.edu 37 X 40541888 40541888 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 40541888 40541888 C G SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.2332 p.E778Q 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 37 13 26.00 32 0 0.00 MED14 9282 genome.wustl.edu 37 X 40571458 40571458 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 40571458 40571458 T A SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.869 p.Q290L 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 27 16 37.21 48 0 0.00 MED14 9282 genome.wustl.edu 37 X 40588605 40588606 + RNA INS - - A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 40588605 40588606 - A INS MED14 ENST00000463072 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 39 5 11.36 42 0 0.00 MED15 51586 genome.wustl.edu 37 22 20905774 20905774 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 20905774 20905774 C T SNP MED15 ENST00000263205 human ensembl 70_37 +1 known missense c.208 p.H70Y 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 59 23 28.05 96 0 0.00 MED15 51586 genome.wustl.edu 37 22 20920813 20920814 + In_Frame_Ins INS - - CAG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 20920813 20920814 - CAG INS MED15 ENST00000263205 human ensembl 70_37 +1 known in_frame_ins c.750_751 p.254in_frame_insQ 0.993:0.998 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 69 12 14.81 87 0 0.00 MED15 51586 genome.wustl.edu 37 22 20940943 20940943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20940943 20940943 C T SNP MED15 ENST00000263205 human ensembl 70_37 +1 known silent c.2319 p.L773 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 53 22 29.33 73 0 0.00 MED16 10025 genome.wustl.edu 37 19 872088 872088 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 872088 872088 G A SNP MED16 ENST00000325464 human ensembl 70_37 -1 known silent c.1936 p.L646 1.000 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 29 15 34.09 36 0 0.00 MED16 10025 genome.wustl.edu 37 19 879963 879963 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 879963 879963 G A SNP MED16 ENST00000325464 human ensembl 70_37 -1 known silent c.1327 p.L443 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 12 4 25.00 11 0 0.00 MED16 10025 genome.wustl.edu 37 19 881596 881596 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 881596 881596 G C SNP MED16 ENST00000325464 human ensembl 70_37 -1 known silent c.1104 p.L368 0.995 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 124 32 20.51 171 0 0.00 MED17 9440 genome.wustl.edu 37 11 93517706 93517706 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 93517706 93517706 C T SNP MED17 ENST00000251871 human ensembl 70_37 +1 known silent c.27 p.I9 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 44 15 25.00 75 0 0.00 MED17 9440 genome.wustl.edu 37 11 93517725 93517725 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 93517725 93517725 G A SNP MED17 ENST00000251871 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 90 52 36.62 92 0 0.00 MED17 9440 genome.wustl.edu 37 11 93529609 93529609 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 93529609 93529609 C G SNP MED17 ENST00000251871 human ensembl 70_37 +1 known nonsense c.1046 p.S349* 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 33 24 42.11 66 0 0.00 MED18 54797 genome.wustl.edu 37 1 28661017 28661017 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 28661017 28661017 G A SNP MED18 ENST00000373842 human ensembl 70_37 +1 known missense c.163 p.E55K 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 26 23 46.94 73 0 0.00 MED18 54797 genome.wustl.edu 37 1 28661335 28661335 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 28661335 28661335 G A SNP MED18 ENST00000373842 human ensembl 70_37 +1 known missense c.481 p.E161K 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 92 11 10.48 96 0 0.00 MED19 219541 genome.wustl.edu 37 11 57472622 57472622 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 57472622 57472622 C T SNP MED19 ENST00000431606 human ensembl 70_37 -1 known silent c.297 p.K99 1.000 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 77 29 27.36 98 0 0.00 MED20 9477 genome.wustl.edu 37 6 41874892 41874892 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 41874892 41874892 G T SNP MED20 ENST00000265350 human ensembl 70_37 -1 known missense c.557 p.P186Q 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 27 4 12.90 46 0 0.00 MED22 6837 genome.wustl.edu 37 9 136208531 136208531 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136208531 136208531 C T SNP MED22 ENST00000343730 human ensembl 70_37 -1 known missense c.427 p.E143K 1.000 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 12 6 33.33 42 0 0.00 MED22 6837 genome.wustl.edu 37 9 136212068 136212068 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 136212068 136212068 C T SNP MED22 ENST00000343730 human ensembl 70_37 -1 known missense c.163 p.E55K 0.997 pfam_Mediator_Med22 pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 31 18 36.73 71 0 0.00 MED23 9439 genome.wustl.edu 37 6 131908764 131908764 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 131908764 131908764 G A SNP MED23 ENST00000479213 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 30 10 25.00 42 0 0.00 MED23 9439 genome.wustl.edu 37 6 131912530 131912530 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 131912530 131912530 C T SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.3627 p.M1209I 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 28 18 39.13 32 0 0.00 MED23 9439 genome.wustl.edu 37 6 131917763 131917763 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 131917763 131917763 G C SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2691 p.L897 0.989 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 36 5 12.20 67 0 0.00 MED23 9439 genome.wustl.edu 37 6 131919782 131919782 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 131919782 131919782 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2358 p.F786 0.974 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 10 10 50.00 19 0 0.00 MED23 9439 genome.wustl.edu 37 6 131919835 131919835 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 131919835 131919835 C T SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.2305 p.E769K 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 14 13 48.15 21 0 0.00 MED23 9439 genome.wustl.edu 37 6 131923425 131923425 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 131923425 131923425 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2046 p.L682 0.989 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 30 25 45.45 88 0 0.00 MED23 9439 genome.wustl.edu 37 6 131931194 131931194 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 131931194 131931194 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.1087 p.H363Y 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 36 10 21.74 47 0 0.00 MED24 9862 genome.wustl.edu 37 17 38176820 38176820 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 38176820 38176820 C T SNP MED24 ENST00000470126 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MED24 HGNC ENSG00000008838 17 7 29.17 18 0 0.00 MED24 9862 genome.wustl.edu 37 17 38179451 38179451 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38179451 38179451 G C SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.2183 p.S728C 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 42 37 46.84 71 0 0.00 MED24 9862 genome.wustl.edu 37 17 38182491 38182491 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38182491 38182491 C T SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.1903 p.E635K 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 16 15 48.39 24 0 0.00 MED24 9862 genome.wustl.edu 37 17 38183201 38183201 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 38183201 38183201 G A SNP MED24 ENST00000394128 human ensembl 70_37 -1 known silent c.1617 p.I539 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 36 15 29.41 61 0 0.00 MED24 9862 genome.wustl.edu 37 17 38192033 38192033 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 38192033 38192033 G A SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.268 p.R90W 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 21 10 32.26 25 0 0.00 MED25 81857 genome.wustl.edu 37 19 50338793 50338793 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 50338793 50338793 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.1677 p.M559I 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 2 6 75.00 27 0 0.00 MED25 81857 genome.wustl.edu 37 19 50338817 50338817 + Silent SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 50338817 50338817 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known silent c.1701 p.G567 0.533 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 33 4 10.81 40 0 0.00 MED25 81857 genome.wustl.edu 37 19 50338832 50338832 + Silent SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50338832 50338832 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known silent c.1716 p.L572 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 29 4 12.12 15 0 0.00 MED25 81857 genome.wustl.edu 37 19 50339101 50339101 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50339101 50339101 C T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.1864 p.P622S 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 12 5 29.41 14 0 0.00 MED25 81857 genome.wustl.edu 37 19 50339648 50339648 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 50339648 50339648 C T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.2131 p.R711W 0.001 pfam_Mediator_Med25_NR-box pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 28 16 36.36 59 0 0.00 MED26 9441 genome.wustl.edu 37 19 16687305 16687305 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 16687305 16687305 C G SNP MED26 ENST00000263390 human ensembl 70_37 -1 known missense c.1336 p.D446H 0.299 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 22 4 15.38 38 0 0.00 MED29 55588 genome.wustl.edu 37 19 39882224 39882224 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39882224 39882224 C G SNP MED29 ENST00000315588 human ensembl 70_37 +1 known missense c.225 p.F75L 1.000 pfam_Mediator_Med29_met pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 36 27 42.86 65 0 0.00 MED29 55588 genome.wustl.edu 37 19 39883109 39883109 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39883109 39883109 G C SNP MED29 ENST00000315588 human ensembl 70_37 +1 known missense c.285 p.L95F 1.000 pfam_Mediator_Med29_met pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 65 15 18.75 73 0 0.00 MED29 55588 genome.wustl.edu 37 19 39884192 39884192 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39884192 39884192 G C SNP MED29 ENST00000315588 human ensembl 70_37 +1 known splice_site c.339-1 e3-1 1.000 - - - no_errors MED29 HGNC ENSG00000063322 22 9 29.03 34 0 0.00 MED30 90390 genome.wustl.edu 37 8 118533247 118533247 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 118533247 118533247 C G SNP MED30 ENST00000297347 human ensembl 70_37 +1 known missense c.132 p.I44M 1.000 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC ENSG00000164758 54 46 46.00 48 0 0.00 MED31 51003 genome.wustl.edu 37 17 6553727 6553727 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 6553727 6553727 G A SNP MED31 ENST00000225728 human ensembl 70_37 -1 known nonsense c.55 p.Q19* 1.000 pfam_Mediator_Med31 pfam_Mediator_Med31 - no_errors MED31 HGNC ENSG00000108590 113 40 26.14 204 0 0.00 MED6 10001 genome.wustl.edu 37 14 71051553 71051553 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 71051553 71051553 C T SNP MED6 ENST00000256379 human ensembl 70_37 -1 known missense c.718 p.E240K 1.000 pirsf_Mediator_Med6_met/pln pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln - no_errors MED6 HGNC ENSG00000133997 46 29 38.67 75 0 0.00 MED8 112950 genome.wustl.edu 37 1 43853286 43853286 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 43853286 43853286 G A SNP MED8 ENST00000290663 human ensembl 70_37 -1 known missense c.158 p.S53F 1.000 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 68 39 36.45 103 0 0.00 MED9 55090 genome.wustl.edu 37 17 17380479 17380479 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 17380479 17380479 C G SNP MED9 ENST00000268711 human ensembl 70_37 +1 known missense c.124 p.Q42E 0.035 NULL pfam_Mediator_Med9 - no_errors MED9 HGNC ENSG00000141026 15 9 37.50 38 0 0.00 MED9 55090 genome.wustl.edu 37 17 17380526 17380526 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17380526 17380526 G C SNP MED9 ENST00000268711 human ensembl 70_37 +1 known silent c.171 p.A57 0.976 NULL pfam_Mediator_Med9 - no_errors MED9 HGNC ENSG00000141026 26 18 40.91 26 0 0.00 MEDAG 84935 genome.wustl.edu 37 13 31495779 31495779 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 31495779 31495779 G A SNP MEDAG ENST00000380482 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 47 6 11.32 66 0 0.00 MEDAG 84935 genome.wustl.edu 37 13 31495791 31495791 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 31495791 31495791 G A SNP MEDAG ENST00000380482 human ensembl 70_37 +1 known missense c.595 p.D199N 0.975 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 42 6 12.50 72 0 0.00 MEF2A 4205 genome.wustl.edu 37 15 100211754 100211754 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 100211754 100211754 C T SNP MEF2A ENST00000354410 human ensembl 70_37 +1 known silent c.288 p.C96 1.000 pfam_HJURP_C pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 83 32 27.83 83 0 0.00 MEF2A 4205 genome.wustl.edu 37 15 100230473 100230473 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 100230473 100230473 C T SNP MEF2A ENST00000338042 human ensembl 70_37 +1 known missense c.698 p.S233F 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 16 9 36.00 14 0 0.00 MEF2A 4205 genome.wustl.edu 37 15 100252710 100252715 + In_Frame_Del DEL CAGCAG CAGCAG - TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 CAGCAG CAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 100252710 100252715 CAGCAG - DEL MEF2A ENST00000338042 human ensembl 70_37 +1 known in_frame_del c.1255_1260 p.QQ422in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 32 7 17.95 39 0 0.00 MEF2B 100271849 genome.wustl.edu 37 19 19257570 19257570 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19257570 19257570 C A SNP MEF2B ENST00000162023 human ensembl 70_37 -1 known missense c.656 p.R219L 0.631 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 26 9 25.71 39 0 0.00 MEF2BNB-MEF2B 4207 genome.wustl.edu 37 19 19293455 19293455 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 19293455 19293455 G T SNP MEF2BNB-MEF2B ENST00000354191 human ensembl 70_37 -1 known missense c.253 p.R85S 1.000 pfam_UPF0402_NEP pfam_UPF0402_NEP - no_errors MEF2BNB-MEF2B HGNC ENSG00000064489 33 4 10.81 92 0 0.00 MEF2BNB-MEF2B 4207 genome.wustl.edu 37 19 19293486 19293486 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19293486 19293486 C T SNP MEF2BNB-MEF2B ENST00000354191 human ensembl 70_37 -1 known silent c.222 p.V74 0.999 pfam_UPF0402_NEP pfam_UPF0402_NEP - no_errors MEF2BNB-MEF2B HGNC ENSG00000064489 82 14 14.58 89 0 0.00 MEF2C 4208 genome.wustl.edu 37 5 88100485 88100485 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 88100485 88100485 T C SNP MEF2C ENST00000437473 human ensembl 70_37 -1 known missense c.188 p.D63G 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 35 26 42.62 70 0 0.00 MEF2D 4209 genome.wustl.edu 37 1 156436093 156436093 + RNA DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156436093 156436093 A - DEL MEF2D ENST00000464356 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors MEF2D HGNC ENSG00000116604 35 7 16.67 50 0 0.00 MEF2D 4209 genome.wustl.edu 37 1 156437234 156437234 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 156437234 156437234 C T SNP MEF2D ENST00000464356 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MEF2D HGNC ENSG00000116604 15 10 40.00 21 0 0.00 MEF2D 4209 genome.wustl.edu 37 1 156444993 156444993 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156444993 156444993 G A SNP MEF2D ENST00000348159 human ensembl 70_37 -1 known missense c.913 p.H305Y 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 57 20 25.97 57 0 0.00 MEF2D 4209 genome.wustl.edu 37 1 156446854 156446854 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156446854 156446854 C A SNP MEF2D ENST00000348159 human ensembl 70_37 -1 known missense c.805 p.D269Y 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 26 26 50.00 66 0 0.00 MEF2D 4209 genome.wustl.edu 37 1 156450503 156450503 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156450503 156450503 G - DEL MEF2D ENST00000340875 human ensembl 70_37 -1 known frame_shift_del c.325 p.Q109fs 1.000 pfam_HJURP_C pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 21 5 19.23 33 0 0.00 MEFV 4210 genome.wustl.edu 37 16 3297128 3297128 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 3297128 3297128 C T SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1475 p.G492E 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 43 24 35.29 101 0 0.00 MEFV 4210 genome.wustl.edu 37 16 3297155 3297155 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3297155 3297155 G A SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1448 p.S483L 0.505 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 90 35 27.78 57 0 0.00 MEFV 4210 genome.wustl.edu 37 16 3298943 3298943 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 3298943 3298943 C T SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1322 p.R441Q 0.394 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 44 36 45.00 58 0 0.00 MEFV 4210 genome.wustl.edu 37 16 3304167 3304167 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3304167 3304167 A C SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.901 p.S301A 0.001 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 19 13 40.62 42 0 0.00 MEG3 55384 genome.wustl.edu 37 14 101297350 101297350 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 101297350 101297350 C T SNP MEG3 ENST00000398474 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 35 24 40.68 71 0 0.00 MEG3 55384 genome.wustl.edu 37 14 101300594 101300594 + RNA SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 101300594 101300594 C G SNP MEG3 ENST00000398461 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors MEG3 HGNC ENSG00000214548 27 10 27.03 30 0 0.00 MEG3 55384 genome.wustl.edu 37 14 101324774 101324774 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 101324774 101324774 C G SNP MEG3 ENST00000398460 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 19 13 40.62 40 0 0.00 MEGF10 84466 genome.wustl.edu 37 5 126705681 126705681 + Silent SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 126705681 126705681 C A SNP MEGF10 ENST00000274473 human ensembl 70_37 +1 known silent c.399 p.T133 1.000 smart_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 26 5 16.13 30 0 0.00 MEGF10 84466 genome.wustl.edu 37 5 126746176 126746176 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 126746176 126746176 C A SNP MEGF10 ENST00000274473 human ensembl 70_37 +1 known missense c.1013 p.A338E 0.244 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 60 17 21.79 112 0 0.00 MEGF11 84465 genome.wustl.edu 37 15 66223260 66223260 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 66223260 66223260 A G SNP MEGF11 ENST00000409699 human ensembl 70_37 -1 known missense c.1309 p.C437R 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 40 5 11.11 40 0 0.00 MEGF11 84465 genome.wustl.edu 37 15 66262906 66262906 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 66262906 66262906 C G SNP MEGF11 ENST00000409699 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 33 13 28.26 76 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42860054 42860054 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 42860054 42860054 C T SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.4289 p.A1430V 0.991 smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 34 43 55.13 65 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42866575 42866575 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 42866575 42866575 G A SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.5884 p.E1962K 1.000 smart_Plexin-like pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 46 25 35.21 35 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42872634 42872634 + Missense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 42872634 42872634 C G SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.6301 p.R2101G 1.000 smart_Plexin-like pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 9 4 30.77 12 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42873722 42873722 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42873722 42873722 C T SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known silent c.6681 p.C2227 0.823 smart_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 60 33 35.48 106 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42875608 42875608 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 42875608 42875608 G A SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.7243 p.D2415N 1.000 smart_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 38 35 47.95 27 0 0.00 MEGF8 1954 genome.wustl.edu 37 19 42880215 42880215 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 42880215 42880215 C G SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.7826 p.S2609W 1.000 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 11 53 82.81 20 0 0.00 MEGF9 1955 genome.wustl.edu 37 9 123370233 123370233 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123370233 123370233 C T SNP MEGF9 ENST00000426959 human ensembl 70_37 -1 known silent c.1254 p.P418 0.803 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 38 17 30.91 59 0 0.00 MEGF9 1955 genome.wustl.edu 37 9 123374761 123374761 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 123374761 123374761 C T SNP MEGF9 ENST00000426959 human ensembl 70_37 -1 known missense c.1111 p.E371K 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 37 38 50.67 72 0 0.00 MEI1 150365 genome.wustl.edu 37 22 42099426 42099426 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 42099426 42099426 G C SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.266 p.R89T 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 63 28 30.77 95 0 0.00 MEI1 150365 genome.wustl.edu 37 22 42128517 42128517 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 42128517 42128517 G C SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.1241 p.R414T 0.662 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 13 6 31.58 54 0 0.00 MEI1 150365 genome.wustl.edu 37 22 42159295 42159295 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 42159295 42159295 C G SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.2238 p.I746M 0.259 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 52 17 24.64 65 0 0.00 MEI1 150365 genome.wustl.edu 37 22 42174800 42174800 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 42174800 42174800 G A SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.2799 p.M933I 1.000 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 27 16 37.21 26 0 0.00 MEIG1 644890 genome.wustl.edu 37 10 15028921 15028921 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15028921 15028921 C T SNP MEIG1 ENST00000467536 human ensembl 70_37 +1 known rna NULL NULL 0.873 - - - no_errors MEIG1 HGNC ENSG00000197889 23 19 45.24 90 0 0.00 MEIS1 4211 genome.wustl.edu 37 2 66664989 66664989 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 66664989 66664989 C T SNP MEIS1 ENST00000407092 human ensembl 70_37 +1 known silent c.133 p.L45 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 10 11 52.38 34 0 0.00 MEIS1 4211 genome.wustl.edu 37 2 66664996 66664996 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 66664996 66664996 C G SNP MEIS1 ENST00000407092 human ensembl 70_37 +1 known missense c.140 p.S47W 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 16 6 27.27 36 0 0.00 MEIS1 4211 genome.wustl.edu 37 2 66794708 66794708 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 66794708 66794708 G T SNP MEIS1 ENST00000560281 human ensembl 70_37 +1 putative silent c.1089 p.P363 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 32 15 31.91 42 0 0.00 MEIS2 4212 genome.wustl.edu 37 15 37183275 37183275 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 15 37183275 37183275 T C SNP MEIS2 ENST00000560702 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MEIS2 HGNC ENSG00000134138 19 7 26.92 10 0 0.00 MEIS2 4212 genome.wustl.edu 37 15 37188873 37188873 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 37188873 37188873 C T SNP MEIS2 ENST00000561208 human ensembl 70_37 -1 known missense c.992 p.R331K 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 45 20 30.77 73 0 0.00 MEIS2 4212 genome.wustl.edu 37 15 37388629 37388629 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 37388629 37388629 T G SNP MEIS2 ENST00000561208 human ensembl 70_37 -1 known missense c.248 p.H83P 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 8 4 33.33 22 0 0.00 MEIS3 56917 genome.wustl.edu 37 19 47910191 47910191 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47910191 47910191 G T SNP MEIS3 ENST00000559524 human ensembl 70_37 -1 known silent c.1170 p.I390 0.976 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS3 HGNC ENSG00000105419 17 4 19.05 17 0 0.00 MEIS3 56917 genome.wustl.edu 37 19 47910702 47910702 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47910702 47910702 G A SNP MEIS3 ENST00000559524 human ensembl 70_37 -1 known missense c.980 p.S327F 0.944 smart_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS3 HGNC ENSG00000105419 55 38 40.43 78 0 0.00 MEIS3P2 257468 genome.wustl.edu 37 17 20492825 20492825 + RNA SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 20492825 20492825 G C SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MEIS3P2 HGNC ENSG00000188013 67 28 29.17 94 0 0.00 MEIS3P2 257468 genome.wustl.edu 37 17 20492960 20492960 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 20492960 20492960 G A SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors MEIS3P2 HGNC ENSG00000188013 104 29 21.80 139 0 0.00 MEIS3P2 257468 genome.wustl.edu 37 17 20493306 20493306 + RNA SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 20493306 20493306 G T SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors MEIS3P2 HGNC ENSG00000188013 49 18 26.87 68 0 0.00 MEIS3P2 257468 genome.wustl.edu 37 17 20493608 20493608 + RNA SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 20493608 20493608 C A SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MEIS3P2 HGNC ENSG00000188013 33 16 32.65 42 0 0.00 MELK 9833 genome.wustl.edu 37 9 36583688 36583688 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 36583688 36583688 C T SNP MELK ENST00000298048 human ensembl 70_37 +1 known silent c.123 p.I41 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 48 28 36.84 55 0 0.00 MEMO1 51072 genome.wustl.edu 37 2 32093552 32093552 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 32093552 32093552 C G SNP MEMO1 ENST00000379383 human ensembl 70_37 -1 known missense c.781 p.E261Q 1.000 pfam_UPF0103/Memo-related pfam_UPF0103/Memo-related - no_errors MEMO1 HGNC ENSG00000162959 9 6 40.00 24 0 0.00 MEMO1 51072 genome.wustl.edu 37 2 32095023 32095024 + Splice_Site INS - - A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 32095023 32095024 - A INS MEMO1 ENST00000379383 human ensembl 70_37 -1 known splice_site_ins c.667-3_667-2 e8-2 1.000:0.998 - - - no_errors MEMO1 HGNC ENSG00000162959 24 4 14.29 15 0 0.00 MEN1 4221 genome.wustl.edu 37 11 64577150 64577150 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64577150 64577150 G A SNP MEN1 ENST00000337652 human ensembl 70_37 -1 known silent c.432 p.F144 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 28 5 15.15 39 0 0.00 MEOX1 4222 genome.wustl.edu 37 17 41720864 41720864 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 41720864 41720864 C A SNP MEOX1 ENST00000318579 human ensembl 70_37 -1 known nonsense c.634 p.E212* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 24 21 46.67 40 0 0.00 MEOX1 4222 genome.wustl.edu 37 17 41738509 41738509 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 41738509 41738509 C T SNP MEOX1 ENST00000318579 human ensembl 70_37 -1 known missense c.394 p.D132N 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 31 4 11.43 35 0 0.00 MEOX2 4223 genome.wustl.edu 37 7 15725543 15725543 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 15725543 15725543 C T SNP MEOX2 ENST00000262041 human ensembl 70_37 -1 known missense c.485 p.R162Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 25 21 45.65 43 0 0.00 MEOX2 4223 genome.wustl.edu 37 7 15725798 15725800 + In_Frame_Del DEL TGG TGG - TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 15725798 15725800 TGG - DEL MEOX2 ENST00000262041 human ensembl 70_37 -1 known in_frame_del c.230_228 p.H80in_frame_del 1.000:1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 6 7 53.85 8 0 0.00 MEOX2 4223 genome.wustl.edu 37 7 15725877 15725877 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 15725877 15725877 C T SNP MEOX2 ENST00000262041 human ensembl 70_37 -1 known missense c.151 p.A51T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 81 28 25.45 87 0 0.00 MEP1A 4224 genome.wustl.edu 37 6 46793026 46793026 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 46793026 46793026 G C SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.574 p.D192H 0.979 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 21 19 47.50 62 0 0.00 MEP1A 4224 genome.wustl.edu 37 6 46793205 46793205 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 46793205 46793205 G C SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.753 p.E251D 0.808 pfam_Peptidase_M12A,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 45 35 43.75 36 0 0.00 MEP1A 4224 genome.wustl.edu 37 6 46803277 46803277 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46803277 46803277 C T SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2075 p.A692V 0.982 pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 23 17 42.50 51 0 0.00 MEP1A 4224 genome.wustl.edu 37 6 46806754 46806754 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 46806754 46806754 C T SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2122 p.R708C 0.991 pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 55 32 36.78 93 0 0.00 MEP1A 4224 genome.wustl.edu 37 6 46806840 46806840 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 46806840 46806840 C G SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2208 p.I736M 0.806 pirsf_Pept_M12A_Meprin pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 48 15 23.81 75 0 0.00 MEP1B 4225 genome.wustl.edu 37 18 29784241 29784241 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 29784241 29784241 C G SNP MEP1B ENST00000269202 human ensembl 70_37 +1 known silent c.465 p.L155 0.951 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 9 6 40.00 10 0 0.00 MEP1B 4225 genome.wustl.edu 37 18 29793309 29793309 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29793309 29793309 T G SNP MEP1B ENST00000269202 human ensembl 70_37 +1 known missense c.1366 p.S456A 0.707 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_MATH pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 17 12 41.38 43 0 0.00 MEPCE 56257 genome.wustl.edu 37 7 100028248 100028248 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100028248 100028248 G A SNP MEPCE ENST00000310512 human ensembl 70_37 +1 known missense c.607 p.E203K 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 3 23 88.46 43 0 0.00 MEPCE 56257 genome.wustl.edu 37 7 100028535 100028535 + Silent SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 100028535 100028535 C A SNP MEPCE ENST00000310512 human ensembl 70_37 +1 known silent c.894 p.G298 0.693 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 5 4 44.44 21 0 0.00 MEPE 56955 genome.wustl.edu 37 4 88759818 88759818 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 88759818 88759818 G C SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.89 p.S30T 0.968 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 27 16 37.21 42 0 0.00 MEPE 56955 genome.wustl.edu 37 4 88759818 88759818 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 88759818 88759818 G C SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.89 p.S30T 0.968 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 38 5 11.63 57 0 0.00 MEPE 56955 genome.wustl.edu 37 4 88766903 88766903 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88766903 88766903 C T SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.883 p.H295Y 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 14 3 17.65 16 0 0.00 MEPE 56955 genome.wustl.edu 37 4 88767194 88767194 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 88767194 88767194 G A SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.1174 p.E392K 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 15 16 50.00 19 0 0.00 MEPE 56955 genome.wustl.edu 37 4 88767936 88767936 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88767936 88767936 C G SNP MEPE ENST00000508016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC ENSG00000152595 26 12 31.58 55 0 0.00 MERTK 10461 genome.wustl.edu 37 2 112761481 112761481 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 112761481 112761481 G T SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.1787 p.G596V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 16 87 84.47 81 0 0.00 MERTK 10461 genome.wustl.edu 37 2 112766024 112766024 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 112766024 112766024 C G SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.1932 p.F644L 0.968 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 46 9 16.36 28 0 0.00 MERTK 10461 genome.wustl.edu 37 2 112785945 112785945 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 112785945 112785945 C G SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.2504 p.S835C 0.013 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 37 11 22.92 48 0 0.00 MERTK 10461 genome.wustl.edu 37 2 112786126 112786126 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 112786126 112786126 G C SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.2685 p.L895F 0.968 superfamily_Rhodanese-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 37 7 15.91 36 0 0.00 MESDC1 59274 genome.wustl.edu 37 15 81295598 81295598 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81295598 81295598 C T SNP MESDC1 ENST00000267984 human ensembl 70_37 +1 known missense c.986 p.S329L 1.000 NULL NULL - no_errors MESDC1 HGNC ENSG00000140406 4 9 69.23 8 0 0.00 MESDC2 23184 genome.wustl.edu 37 15 81274372 81274372 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 81274372 81274372 C T SNP MESDC2 ENST00000261758 human ensembl 70_37 -1 known missense c.365 p.G122E 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 78 24 23.53 118 0 0.00 MESP2 145873 genome.wustl.edu 37 15 90320500 90320500 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 90320500 90320500 C T SNP MESP2 ENST00000341735 human ensembl 70_37 +1 known silent c.912 p.A304 0.565 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MESP2 HGNC ENSG00000188095 57 24 29.63 64 0 0.00 MEST 4232 genome.wustl.edu 37 7 130142525 130142525 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 130142525 130142525 C T SNP MEST ENST00000223215 human ensembl 70_37 +1 known missense c.790 p.R264C 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 69 20 22.47 66 0 0.00 MET 4233 genome.wustl.edu 37 7 116339698 116339698 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 116339698 116339698 C G SNP MET ENST00000318493 human ensembl 70_37 +1 known missense c.560 p.S187C 0.558 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MET HGNC ENSG00000105976 9 4 30.77 15 0 0.00 MET 4233 genome.wustl.edu 37 7 116371803 116371803 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116371803 116371803 G C SNP MET ENST00000318493 human ensembl 70_37 +1 known missense c.1282 p.D428H 0.997 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MET HGNC ENSG00000105976 38 14 26.92 75 0 0.00 METAP1D 254042 genome.wustl.edu 37 2 172930371 172930371 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 172930371 172930371 C T SNP METAP1D ENST00000315796 human ensembl 70_37 +1 known missense c.388 p.R130W 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 83 14 14.43 59 0 0.00 METAP1D 254042 genome.wustl.edu 37 2 172943971 172943971 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 172943971 172943971 G T SNP METAP1D ENST00000315796 human ensembl 70_37 +1 known missense c.831 p.E277D 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 28 4 12.50 25 0 0.00 METAP1D 254042 genome.wustl.edu 37 2 172945101 172945101 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 172945101 172945101 G A SNP METAP1D ENST00000315796 human ensembl 70_37 +1 known silent c.975 p.A325 0.339 superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 29 17 35.42 75 0 0.00 METAP2 10988 genome.wustl.edu 37 12 95877012 95877012 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 95877012 95877012 G A SNP METAP2 ENST00000323666 human ensembl 70_37 +1 known missense c.281 p.G94E 1.000 NULL pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 71 16 18.39 62 0 0.00 METTL1 4234 genome.wustl.edu 37 12 58163158 58163158 + Nonsense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 58163158 58163158 C A SNP METTL1 ENST00000257848 human ensembl 70_37 -1 known nonsense c.418 p.G140* 1.000 NULL NULL - no_errors METTL1 HGNC ENSG00000037897 18 4 18.18 18 0 0.00 METTL10 399818 genome.wustl.edu 37 10 126463297 126463297 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463297 126463297 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known nonsense c.346 p.Q116* 1.000 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC ENSG00000203791 106 24 18.46 134 0 0.00 METTL10 399818 genome.wustl.edu 37 10 126463309 126463309 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463309 126463309 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known missense c.334 p.P112S 0.998 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC ENSG00000203791 100 24 19.35 146 0 0.00 METTL10 399818 genome.wustl.edu 37 10 126463311 126463311 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463311 126463311 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known missense c.332 p.S111F 1.000 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC ENSG00000203791 98 25 20.33 143 0 0.00 METTL11B 149281 genome.wustl.edu 37 1 170136706 170136706 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 170136706 170136706 G A SNP METTL11B ENST00000439373 human ensembl 70_37 +1 known silent c.660 p.L220 0.335 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 34 12 26.09 28 0 0.00 METTL12 751071 genome.wustl.edu 37 11 62432845 62432845 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 62432845 62432845 G A SNP METTL12 ENST00000594728 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC ENSG00000214756 14 12 46.15 14 0 0.00 METTL12 751071 genome.wustl.edu 37 11 62432882 62432882 + RNA SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 62432882 62432882 G A SNP METTL12 ENST00000594728 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC ENSG00000214756 7 9 56.25 21 0 0.00 METTL12 751071 genome.wustl.edu 37 11 62434026 62434026 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434026 62434026 C T SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known missense c.226 p.P76S 0.004 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 12 15 55.56 32 0 0.00 METTL12 751071 genome.wustl.edu 37 11 62434345 62434345 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434345 62434345 C G SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known nonsense c.545 p.S182* 0.598 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 24 11 31.43 38 0 0.00 METTL12 751071 genome.wustl.edu 37 11 62434438 62434438 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62434438 62434438 C T SNP METTL12 ENST00000532971 human ensembl 70_37 +1 known missense c.638 p.S213F 0.007 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 21 18 46.15 24 0 0.00 METTL13 51603 genome.wustl.edu 37 1 171753007 171753007 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 171753007 171753007 G A SNP METTL13 ENST00000361735 human ensembl 70_37 +1 known missense c.281 p.R94Q 0.092 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 68 30 30.61 70 0 0.00 METTL13 51603 genome.wustl.edu 37 1 171755064 171755064 + Missense_Mutation SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 171755064 171755064 G C SNP METTL13 ENST00000361735 human ensembl 70_37 +1 known missense c.959 p.G320A 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 27 7 20.59 24 0 0.00 METTL16 79066 genome.wustl.edu 37 17 2381091 2381091 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 2381091 2381091 C G SNP METTL16 ENST00000263092 human ensembl 70_37 -1 known missense c.217 p.E73Q 1.000 pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 16 20 55.56 42 0 0.00 METTL17 64745 genome.wustl.edu 37 14 21464426 21464426 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21464426 21464426 C T SNP METTL17 ENST00000382985 human ensembl 70_37 +1 known missense c.1055 p.A352V 0.281 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 46 11 19.30 97 0 0.00 METTL18 92342 genome.wustl.edu 37 1 169761916 169761916 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 169761916 169761916 C G SNP METTL18 ENST00000303469 human ensembl 70_37 -1 known missense c.921 p.Q307H 0.022 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL18 HGNC ENSG00000171806 26 10 27.78 31 0 0.00 METTL20 254013 genome.wustl.edu 37 12 31815034 31815034 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 31815034 31815034 T C SNP METTL20 ENST00000357721 human ensembl 70_37 +1 known silent c.147 p.A49 0.829 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL20 HGNC ENSG00000139160 21 23 52.27 72 0 0.00 METTL21A 151194 genome.wustl.edu 37 2 208476955 208476955 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 208476955 208476955 C A SNP METTL21A ENST00000477919 human ensembl 70_37 -1 putative rna NULL NULL 0.084 - - - no_errors METTL21A HGNC ENSG00000144401 23 4 14.81 34 0 0.00 METTL21A 151194 genome.wustl.edu 37 2 208477923 208477923 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 208477923 208477923 C T SNP METTL21A ENST00000406927 human ensembl 70_37 -1 known silent c.504 p.V168 0.994 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 34 8 19.05 50 0 0.00 METTL24 728464 genome.wustl.edu 37 6 110636575 110636575 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110636575 110636575 C T SNP METTL24 ENST00000338882 human ensembl 70_37 -1 known missense c.527 p.R176H 0.344 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 53 15 22.06 81 0 0.00 METTL25 84190 genome.wustl.edu 37 12 82752432 82752432 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 82752432 82752432 G A SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known missense c.88 p.A30T 0.919 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 33 4 10.81 53 0 0.00 METTL25 84190 genome.wustl.edu 37 12 82793053 82793053 + Silent SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 82793053 82793053 T A SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known silent c.1011 p.S337 0.939 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 60 7 10.29 75 0 0.00 METTL25 84190 genome.wustl.edu 37 12 82850511 82850511 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 12 82850511 82850511 G T SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known missense c.1484 p.R495L 0.001 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 33 4 10.81 51 0 0.00 METTL2A 339175 genome.wustl.edu 37 17 60505165 60505165 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60505165 60505165 G A SNP METTL2A ENST00000311506 human ensembl 70_37 +1 known missense c.575 p.G192E 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2A HGNC ENSG00000087995 79 23 22.55 78 0 0.00 METTL2B 55798 genome.wustl.edu 37 7 128119454 128119454 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 128119454 128119454 G C SNP METTL2B ENST00000262432 human ensembl 70_37 +1 known missense c.445 p.E149Q 0.003 pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2B HGNC ENSG00000165055 79 16 16.67 106 0 0.00 METTL2B 55798 genome.wustl.edu 37 7 128138114 128138114 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 128138114 128138114 G A SNP METTL2B ENST00000262432 human ensembl 70_37 +1 known silent c.834 p.L278 0.962 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2B HGNC ENSG00000165055 62 8 11.43 73 0 0.00 METTL3 56339 genome.wustl.edu 37 14 21971383 21971383 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 21971383 21971383 G A SNP METTL3 ENST00000537163 human ensembl 70_37 -1 known nonsense c.442 p.Q148* 1.000 NULL NULL - no_errors METTL3 HGNC ENSG00000165819 65 22 25.29 94 0 0.00 METTL4 64863 genome.wustl.edu 37 18 2544664 2544664 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 18 2544664 2544664 G A SNP METTL4 ENST00000574538 human ensembl 70_37 -1 known missense c.1169 p.A390V 0.102 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 31 21 40.38 70 0 0.00 METTL5 29081 genome.wustl.edu 37 2 170668947 170668947 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 170668947 170668947 G C SNP METTL5 ENST00000410097 human ensembl 70_37 -1 putative missense c.611 p.A204G 0.000 NULL pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_RNA_cap_Gua-N2-MeTrfase,pfam_Methyltransf_11 - no_errors METTL5 HGNC ENSG00000138382 30 9 23.08 34 0 0.00 METTL7A 25840 genome.wustl.edu 37 12 51319179 51319179 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 51319179 51319179 G C SNP METTL7A ENST00000332160 human ensembl 70_37 +1 known missense c.358 p.E120Q 1.000 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_SAM-MeTfrase_NodS-related pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related - no_errors METTL7A HGNC ENSG00000185432 38 23 37.70 41 0 0.00 METTL8 79828 genome.wustl.edu 37 2 172182597 172182597 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 172182597 172182597 G A SNP METTL8 ENST00000375258 human ensembl 70_37 -1 putative nonsense c.922 p.R308* 1.000 pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase_METTL2_prd - no_errors METTL8 HGNC ENSG00000123600 36 12 25.00 62 0 0.00 METTL8 79828 genome.wustl.edu 37 2 172195993 172195993 + Missense_Mutation SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 172195993 172195993 C G SNP METTL8 ENST00000392604 human ensembl 70_37 -1 known missense c.307 p.D103H 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 78 18 18.75 67 0 0.00 METTL8 79828 genome.wustl.edu 37 2 172217022 172217022 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 172217022 172217022 C G SNP METTL8 ENST00000392604 human ensembl 70_37 -1 known missense c.145 p.D49H 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 23 11 32.35 50 0 0.00 METTL9 51108 genome.wustl.edu 37 16 21629232 21629232 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 21629232 21629232 C T SNP METTL9 ENST00000358154 human ensembl 70_37 +1 known nonsense c.403 p.Q135* 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 53 36 40.45 65 0 0.00 MEX3A 92312 genome.wustl.edu 37 1 156047250 156047250 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 156047250 156047250 G A SNP MEX3A ENST00000532414 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 14 9 39.13 20 0 0.00 MEX3A 92312 genome.wustl.edu 37 1 156051708 156051708 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 156051708 156051708 C T SNP MEX3A ENST00000532414 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 15 13 46.43 21 0 0.00 MEX3B 84206 genome.wustl.edu 37 15 82336662 82336662 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 82336662 82336662 G C SNP MEX3B ENST00000329713 human ensembl 70_37 -1 known missense c.549 p.I183M 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 77 9 10.47 62 0 0.00 MEX3B 84206 genome.wustl.edu 37 15 82337845 82337845 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 15 82337845 82337845 C G SNP MEX3B ENST00000329713 human ensembl 70_37 -1 known missense c.202 p.E68Q 1.000 pfam_KH_dom_type_1,smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 13 14 51.85 22 0 0.00 MEX3C 51320 genome.wustl.edu 37 18 48723052 48723052 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 48723052 48723052 C T SNP MEX3C ENST00000406189 human ensembl 70_37 -1 known silent c.639 p.A213 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 3 7 70.00 15 0 0.00 MEX3D 399664 genome.wustl.edu 37 19 1555705 1555705 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 1555705 1555705 C T SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known missense c.1813 p.E605K 0.995 pfscan_Znf_RING pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 18 14 43.75 16 0 0.00 MEX3D 399664 genome.wustl.edu 37 19 1556729 1556729 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 1556729 1556729 G A SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known silent c.789 p.A263 0.011 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 52 9 14.75 46 0 0.00 MEX3D 399664 genome.wustl.edu 37 19 1556818 1556818 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 1556818 1556818 C A SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known nonsense c.700 p.E234* 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 36 28 43.75 73 0 0.00 MEX3D 399664 genome.wustl.edu 37 19 1567479 1567479 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 1567479 1567479 C G SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known missense c.579 p.E193D 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 13 5 27.78 19 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44097317 44097317 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44097317 44097317 G C SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.1295 p.S432C 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 59 43 42.16 71 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44102108 44102108 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 44102108 44102108 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 36 13 26.53 72 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44105255 44105255 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44105255 44105255 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 46 38 45.24 108 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44106778 44106778 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44106778 44106778 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.538 p.E180K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 3 17 85.00 63 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44106805 44106805 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44106805 44106805 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 1 11 91.67 52 0 0.00 MFAP1 4236 genome.wustl.edu 37 15 44109624 44109624 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44109624 44109624 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known silent c.102 p.V34 1.000 NULL pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 11 26 70.27 76 0 0.00 MFAP3 4238 genome.wustl.edu 37 5 153432736 153432736 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 153432736 153432736 C G SNP MFAP3 ENST00000322602 human ensembl 70_37 +1 known missense c.552 p.I184M 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3 HGNC ENSG00000037749 32 21 39.62 53 0 0.00 MFAP3 4238 genome.wustl.edu 37 5 153433097 153433097 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 153433097 153433097 C G SNP MFAP3 ENST00000322602 human ensembl 70_37 +1 known missense c.913 p.L305V 0.996 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3 HGNC ENSG00000037749 20 15 42.86 23 0 0.00 MFAP3L 9848 genome.wustl.edu 37 4 170912847 170912847 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 170912847 170912847 G A SNP MFAP3L ENST00000361618 human ensembl 70_37 -1 known silent c.912 p.D304 0.429 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 74 21 22.11 84 0 0.00 MFAP3L 9848 genome.wustl.edu 37 4 170913057 170913057 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 170913057 170913057 G A SNP MFAP3L ENST00000361618 human ensembl 70_37 -1 known silent c.702 p.I234 0.982 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 35 11 23.91 62 0 0.00 MFAP3L 9848 genome.wustl.edu 37 4 170926743 170926743 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 4 170926743 170926743 C T SNP MFAP3L ENST00000361618 human ensembl 70_37 -1 known missense c.286 p.E96K 0.220 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 78 93 54.39 161 0 0.00 MFAP4 4239 genome.wustl.edu 37 17 19288463 19288463 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 19288463 19288463 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.541 p.E181K 0.995 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 18 26 59.09 37 0 0.00 MFAP4 4239 genome.wustl.edu 37 17 19288463 19288463 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 19288463 19288463 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.541 p.E181K 0.995 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 40 50 55.56 92 0 0.00 MFAP4 4239 genome.wustl.edu 37 17 19289684 19289684 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 19289684 19289684 G C SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.251 p.S84W 0.006 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 56 12 17.65 61 0 0.00 MFAP4 4239 genome.wustl.edu 37 17 19290081 19290081 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 19290081 19290081 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.149 p.R50Q 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 21 18 46.15 42 0 0.00 MFAP4 4239 genome.wustl.edu 37 17 19290087 19290087 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 19290087 19290087 C A SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.143 p.G48V 0.971 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC ENSG00000166482 12 14 53.85 48 0 0.00 MFF 56947 genome.wustl.edu 37 2 228221826 228221826 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 228221826 228221826 G C SNP MFF ENST00000353339 human ensembl 70_37 +1 known missense c.1022 p.R341P 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 64 36 36.00 97 0 0.00 MFGE8 4240 genome.wustl.edu 37 15 89449895 89449895 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89449895 89449895 C T SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known missense c.502 p.E168K 0.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 15 13 46.43 40 0 0.00 MFGE8 4240 genome.wustl.edu 37 15 89450573 89450573 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89450573 89450573 G A SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known silent c.240 p.N80 0.922 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 10 11 52.38 32 0 0.00 MFGE8 4240 genome.wustl.edu 37 15 89450573 89450573 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89450573 89450573 G A SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known silent c.240 p.N80 0.922 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 13 10 43.48 34 0 0.00 MFHAS1 9258 genome.wustl.edu 37 8 8643422 8643422 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8643422 8643422 C G SNP MFHAS1 ENST00000521881 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MFHAS1 HGNC ENSG00000147324 32 9 21.95 29 0 0.00 MFHAS1 9258 genome.wustl.edu 37 8 8643428 8643428 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8643428 8643428 C T SNP MFHAS1 ENST00000521881 human ensembl 70_37 -1 known rna NULL NULL 0.096 - - - no_errors MFHAS1 HGNC ENSG00000147324 34 10 22.73 28 0 0.00 MFHAS1 9258 genome.wustl.edu 37 8 8750098 8750098 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 8750098 8750098 G A SNP MFHAS1 ENST00000276282 human ensembl 70_37 -1 known silent c.471 p.L157 0.183 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 51 22 30.14 82 0 0.00 MFI2 4241 genome.wustl.edu 37 3 196753546 196753546 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 196753546 196753546 C T SNP MFI2 ENST00000296350 human ensembl 70_37 -1 known missense c.289 p.E97K 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 104 66 38.82 55 0 0.00 MFN1 55669 genome.wustl.edu 37 3 179082959 179082959 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 179082959 179082959 C T SNP MFN1 ENST00000263969 human ensembl 70_37 +1 known silent c.699 p.F233 0.992 pfam_Dynamin_GTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN1 HGNC ENSG00000171109 24 13 35.14 47 0 0.00 MFN1 55669 genome.wustl.edu 37 3 179082985 179082985 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 179082985 179082985 C G SNP MFN1 ENST00000263969 human ensembl 70_37 +1 known missense c.725 p.S242C 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN1 HGNC ENSG00000171109 19 12 38.71 40 0 0.00 MFN2 9927 genome.wustl.edu 37 1 12049379 12049379 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 12049379 12049379 G A SNP MFN2 ENST00000235329 human ensembl 70_37 +1 known missense c.154 p.E52K 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC ENSG00000116688 25 13 34.21 44 0 0.00 MFN2 9927 genome.wustl.edu 37 1 12065800 12065800 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 12065800 12065800 C T SNP MFN2 ENST00000235329 human ensembl 70_37 +1 known missense c.1528 p.R510W 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC ENSG00000116688 53 16 23.19 53 0 0.00 MFNG 4242 genome.wustl.edu 37 22 37870703 37870703 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 37870703 37870703 G C SNP MFNG ENST00000356998 human ensembl 70_37 -1 known missense c.660 p.F220L 0.993 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors MFNG HGNC ENSG00000100060 23 11 32.35 27 0 0.00 MFRP 83552 genome.wustl.edu 37 11 119212390 119212390 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 119212390 119212390 G T SNP MFRP ENST00000449574 human ensembl 70_37 -1 known silent c.1608 p.P536 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 29 4 12.12 27 0 0.00 MFSD10 10227 genome.wustl.edu 37 4 2934873 2934873 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 2934873 2934873 G A SNP MFSD10 ENST00000329687 human ensembl 70_37 -1 known missense c.332 p.S111F 0.927 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 36 20 35.71 36 0 0.00 MFSD10 10227 genome.wustl.edu 37 4 2935543 2935543 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 2935543 2935543 G C SNP MFSD10 ENST00000329687 human ensembl 70_37 -1 known silent c.108 p.L36 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 7 4 36.36 9 0 0.00 MFSD11 79157 genome.wustl.edu 37 17 74735031 74735031 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74735031 74735031 C T SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known silent c.108 p.I36 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 26 21 44.68 68 0 0.00 MFSD11 79157 genome.wustl.edu 37 17 74735047 74735047 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74735047 74735047 A G SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known missense c.124 p.T42A 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 31 13 29.55 81 0 0.00 MFSD11 79157 genome.wustl.edu 37 17 74740547 74740547 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74740547 74740547 G A SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known missense c.640 p.E214K 0.544 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 33 22 40.00 53 0 0.00 MFSD12 126321 genome.wustl.edu 37 19 3550984 3550984 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 3550984 3550984 G T SNP MFSD12 ENST00000398558 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 12 26 68.42 24 0 0.00 MFSD12 126321 genome.wustl.edu 37 19 3557256 3557256 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3557256 3557256 G C SNP MFSD12 ENST00000398558 human ensembl 70_37 -1 known missense c.146 p.S49W 0.999 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 13 7 35.00 19 0 0.00 MFSD2A 84879 genome.wustl.edu 37 1 40422823 40422823 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 40422823 40422823 G C SNP MFSD2A ENST00000372809 human ensembl 70_37 +1 known missense c.158 p.G53A 0.998 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 67 34 33.66 104 0 0.00 MFSD2A 84879 genome.wustl.edu 37 1 40431611 40431611 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 40431611 40431611 C T SNP MFSD2A ENST00000372809 human ensembl 70_37 +1 known silent c.678 p.F226 0.026 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 29 8 21.62 24 0 0.00 MFSD2A 84879 genome.wustl.edu 37 1 40433396 40433396 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 40433396 40433396 G A SNP MFSD2A ENST00000459917 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MFSD2A HGNC ENSG00000168389 68 52 43.33 89 0 0.00 MFSD2B 388931 genome.wustl.edu 37 2 24247079 24247079 + Silent SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 24247079 24247079 C A SNP MFSD2B ENST00000338315 human ensembl 70_37 +1 known silent c.1428 p.L476 0.053 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 35 10 22.22 32 0 0.00 MFSD2B 388931 genome.wustl.edu 37 2 24247121 24247121 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 24247121 24247121 C T SNP MFSD2B ENST00000338315 human ensembl 70_37 +1 known silent c.1470 p.S490 0.070 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 40 31 43.66 52 0 0.00 MFSD4 148808 genome.wustl.edu 37 1 205553173 205553173 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205553173 205553173 G A SNP MFSD4 ENST00000367147 human ensembl 70_37 +1 known missense c.781 p.D261N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 36 27 42.86 40 0 0.00 MFSD5 84975 genome.wustl.edu 37 12 53646785 53646785 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 53646785 53646785 G C SNP MFSD5 ENST00000534842 human ensembl 70_37 +1 known missense c.487 p.D163H 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 31 9 22.50 44 0 0.00 MFSD5 84975 genome.wustl.edu 37 12 53647154 53647154 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 53647154 53647154 C A SNP MFSD5 ENST00000534842 human ensembl 70_37 +1 known missense c.856 p.H286N 0.998 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 26 3 10.34 31 0 0.00 MFSD6 54842 genome.wustl.edu 37 2 191301100 191301100 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 191301100 191301100 C T SNP MFSD6 ENST00000281416 human ensembl 70_37 +1 known silent c.345 p.F115 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 20 15 42.86 47 0 0.00 MFSD6 54842 genome.wustl.edu 37 2 191301315 191301315 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 191301315 191301315 C G SNP MFSD6 ENST00000281416 human ensembl 70_37 +1 known missense c.560 p.S187C 0.107 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 89 39 30.23 131 0 0.00 MFSD6L 162387 genome.wustl.edu 37 17 8701915 8701915 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 8701915 8701915 G C SNP MFSD6L ENST00000329805 human ensembl 70_37 -1 known missense c.524 p.S175C 0.003 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 56 17 23.29 42 0 0.00 MFSD8 256471 genome.wustl.edu 37 4 128842679 128842679 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 128842679 128842679 C T SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known silent c.1350 p.Q450 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 100 37 27.01 113 0 0.00 MFSD8 256471 genome.wustl.edu 37 4 128865102 128865102 + Missense_Mutation SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 128865102 128865102 A G SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known missense c.244 p.S82P 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 8 7 46.67 34 0 0.00 MFSD8 256471 genome.wustl.edu 37 4 128886250 128886250 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 128886250 128886250 G C SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known silent c.39 p.L13 0.007 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 27 4 12.90 40 0 0.00 MGA 23269 genome.wustl.edu 37 15 41961606 41961606 + Nonsense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 15 41961606 41961606 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known nonsense c.514 p.Q172* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 18 28 59.57 37 0 0.00 MGA 23269 genome.wustl.edu 37 15 41961629 41961629 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 41961629 41961629 C G SNP MGA ENST00000219905 human ensembl 70_37 +1 known silent c.537 p.L179 0.990 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 32 11 25.58 67 0 0.00 MGA 23269 genome.wustl.edu 37 15 41962122 41962122 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 41962122 41962122 G A SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1030 p.E344K 0.997 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 57 15 20.83 62 0 0.00 MGA 23269 genome.wustl.edu 37 15 41988737 41988737 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 41988737 41988737 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1529 p.T510I 0.002 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 38 18 32.14 31 0 0.00 MGA 23269 genome.wustl.edu 37 15 41988737 41988737 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 15 41988737 41988737 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1529 p.T510I 0.002 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 41 20 32.79 74 0 0.00 MGA 23269 genome.wustl.edu 37 15 41988923 41988923 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41988923 41988923 C T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1715 p.S572L 0.002 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 14 12 46.15 19 0 0.00 MGA 23269 genome.wustl.edu 37 15 41991294 41991294 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 41991294 41991294 G A SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.2125 p.E709K 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 10 27 72.97 45 0 0.00 MGA 23269 genome.wustl.edu 37 15 42000403 42000403 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 42000403 42000403 G C SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.2422 p.E808Q 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 45 12 21.05 54 0 0.00 MGA 23269 genome.wustl.edu 37 15 42042106 42042106 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42042106 42042106 T G SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.6301 p.L2101V 0.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 4 5 55.56 24 0 0.00 MGA 23269 genome.wustl.edu 37 15 42058330 42058330 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 42058330 42058330 C G SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8050 p.L2684V 0.944 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 15 7 31.82 26 0 0.00 MGA 23269 genome.wustl.edu 37 15 42058491 42058491 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 42058491 42058491 G C SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8211 p.Q2737H 0.985 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 20 14 41.18 30 0 0.00 MGA 23269 genome.wustl.edu 37 15 42058580 42058580 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42058580 42058580 G T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8300 p.R2767I 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 5 3 37.50 26 0 0.00 MGA 23269 genome.wustl.edu 37 15 42058656 42058656 + Silent SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 15 42058656 42058656 G T SNP MGA ENST00000219905 human ensembl 70_37 +1 known silent c.8376 p.L2792 0.999 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 19 7 26.92 36 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141705385 141705385 + Missense_Mutation SNP C C A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 7 141705385 141705385 C A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.55 p.L19I 0.147 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 19 8 29.63 21 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141708379 141708379 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 141708379 141708379 C A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known silent c.201 p.T67 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 16 4 19.05 115 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141708495 141708496 + Frame_Shift_Ins INS - - TG TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 7 141708495 141708496 - TG INS MGAM ENST00000549489 human ensembl 70_37 +1 known frame_shift_ins c.317_318 p.P107fs 0.076:0.114 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 14 2 12.50 64 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141727450 141727450 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141727450 141727450 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.1136 p.G379A 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 67 23 25.56 55 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141730555 141730555 + Nonsense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 141730555 141730555 G T SNP MGAM ENST00000549489 human ensembl 70_37 +1 known nonsense c.1468 p.E490* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 25 4 13.79 39 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141752684 141752684 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 141752684 141752684 C A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.3059 p.S1020Y 0.082 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 84 49 36.84 149 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141760129 141760129 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 141760129 141760129 G A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.4078 p.D1360N 0.987 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 102 89 46.60 156 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141764242 141764242 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 141764242 141764242 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.4404 p.Q1468H 0.970 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 39 31 44.29 64 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141768492 141768492 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 141768492 141768492 G A SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.5050 p.D1684N 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 45 34 43.04 126 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141778220 141778220 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 141778220 141778220 G A SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.5599 p.E1867K 0.007 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 34 7 17.07 28 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141794262 141794262 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 141794262 141794262 C T SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.7274 p.T2425I 0.343 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 26 15 36.59 44 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141794572 141794572 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 141794572 141794572 T C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.4679 p.F1560S 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 55 23 29.49 77 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141802440 141802440 + Silent SNP G G C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 141802440 141802440 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known silent c.5286 p.G1762 0.012 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 15 2 11.76 31 0 0.00 MGAM 8972 genome.wustl.edu 37 7 141805659 141805659 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 141805659 141805659 T G SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.5542 p.F1848V 0.083 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 27 9 25.00 43 0 0.00 MGAT2 4247 genome.wustl.edu 37 14 50088484 50088484 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 14 50088484 50088484 G T SNP MGAT2 ENST00000305386 human ensembl 70_37 +1 known silent c.498 p.G166 0.058 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 38 6 13.64 35 0 0.00 MGAT2 4247 genome.wustl.edu 37 14 50088567 50088567 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 50088567 50088567 G C SNP MGAT2 ENST00000305386 human ensembl 70_37 +1 known missense c.581 p.R194T 0.999 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 162 54 25.00 231 0 0.00 MGAT3 4248 genome.wustl.edu 37 22 39883520 39883520 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39883520 39883520 C T SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known silent c.168 p.V56 0.913 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 28 17 37.78 57 0 0.00 MGAT3 4248 genome.wustl.edu 37 22 39883698 39883698 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 39883698 39883698 G A SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.346 p.V116I 0.996 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 29 6 17.14 46 0 0.00 MGAT3 4248 genome.wustl.edu 37 22 39883979 39883979 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39883979 39883979 C G SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.627 p.I209M 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 15 12 44.44 34 0 0.00 MGAT3 4248 genome.wustl.edu 37 22 39884875 39884875 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 39884875 39884875 C T SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.1523 p.T508M 0.062 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 17 7 29.17 12 0 0.00 MGAT4A 11320 genome.wustl.edu 37 2 99260398 99260398 + Silent SNP A A G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 99260398 99260398 A G SNP MGAT4A ENST00000264968 human ensembl 70_37 -1 known silent c.1008 p.P336 0.991 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 16 13 44.83 41 0 0.00 MGAT4C 25834 genome.wustl.edu 37 12 86373204 86373204 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 86373204 86373204 C T SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.1387 p.E463K 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 56 27 32.53 25 0 0.00 MGAT4C 25834 genome.wustl.edu 37 12 86373207 86373207 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 86373207 86373207 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known nonsense c.1384 p.G462* 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 54 16 22.86 37 0 0.00 MGAT4C 25834 genome.wustl.edu 37 12 86373207 86373207 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 86373207 86373207 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known nonsense c.1384 p.G462* 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 87 16 15.53 102 0 0.00 MGAT4C 25834 genome.wustl.edu 37 12 86373637 86373637 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 86373637 86373637 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.954 p.L318F 0.971 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 57 26 31.33 27 0 0.00 MGAT4C 25834 genome.wustl.edu 37 12 86373920 86373920 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 86373920 86373920 C G SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.671 p.R224T 0.685 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 31 22 41.51 46 0 0.00 MGAT5 4249 genome.wustl.edu 37 2 135160633 135160633 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135160633 135160633 G T SNP MGAT5 ENST00000281923 human ensembl 70_37 +1 known missense c.1455 p.K485N 0.996 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 5 3 37.50 22 0 0.00 MGAT5 4249 genome.wustl.edu 37 2 135206278 135206278 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135206278 135206278 G A SNP MGAT5 ENST00000281923 human ensembl 70_37 +1 known missense c.2086 p.D696N 0.997 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 45 24 34.78 72 0 0.00 MGAT5B 146664 genome.wustl.edu 37 17 74865078 74865078 + RNA SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 74865078 74865078 C T SNP MGAT5B ENST00000374998 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MGAT5B HGNC ENSG00000167889 22 10 30.30 47 0 0.00 MGAT5B 146664 genome.wustl.edu 37 17 74902154 74902154 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74902154 74902154 C A SNP MGAT5B ENST00000428789 human ensembl 70_37 +1 known silent c.943 p.R315 0.586 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC ENSG00000167889 81 52 39.10 83 0 0.00 MGAT5B 146664 genome.wustl.edu 37 17 74902205 74902205 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74902205 74902205 C G SNP MGAT5B ENST00000428789 human ensembl 70_37 +1 known missense c.994 p.L332V 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC ENSG00000167889 55 41 42.71 76 0 0.00 MGAT5B 146664 genome.wustl.edu 37 17 74909778 74909778 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 74909778 74909778 G A SNP MGAT5B ENST00000374998 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MGAT5B HGNC ENSG00000167889 38 8 17.39 54 0 0.00 MGC21881 0 genome.wustl.edu 37 9 66553736 66553736 + RNA SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 9 66553736 66553736 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 16 6 27.27 21 0 0.00 MGC21881 0 genome.wustl.edu 37 9 66553736 66553736 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 66553736 66553736 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 19 7 26.92 33 0 0.00 MGC21881 0 genome.wustl.edu 37 9 66553844 66553844 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 66553844 66553844 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.096 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 222 39 14.89 119 0 0.00 MGC45800 90768 genome.wustl.edu 37 4 183063759 183063759 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 183063759 183063759 G C SNP MGC45800 ENST00000315302 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC108142.1 Clone_based_vega_gene ENSG00000177822 61 7 10.29 91 0 0.00 MGC45800 90768 genome.wustl.edu 37 4 183063783 183063783 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 183063783 183063783 G T SNP MGC45800 ENST00000315302 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors AC108142.1 Clone_based_vega_gene ENSG00000177822 44 8 15.38 82 0 0.00 MGEA5 10724 genome.wustl.edu 37 10 103552510 103552510 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103552510 103552510 G A SNP MGEA5 ENST00000492204 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MGEA5 HGNC ENSG00000198408 10 8 44.44 15 0 0.00 MGEA5 10724 genome.wustl.edu 37 10 103557892 103557892 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 103557892 103557892 C A SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.1829 p.R610L 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 47 15 24.19 126 1 0.79 MGEA5 10724 genome.wustl.edu 37 10 103563732 103563732 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 103563732 103563732 C G SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.796 p.E266Q 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 45 26 36.62 53 0 0.00 MGEA5 10724 genome.wustl.edu 37 10 103577777 103577777 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 103577777 103577777 C T SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 18 11 37.93 42 0 0.00 MGMT 4255 genome.wustl.edu 37 10 131565154 131565154 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 131565154 131565154 G C SNP MGMT ENST00000306010 human ensembl 70_37 +1 known missense c.610 p.G204R 0.933 pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 42 21 33.33 90 0 0.00 MGP 4256 genome.wustl.edu 37 12 15037770 15037770 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 15037770 15037770 G A SNP MGP ENST00000228938 human ensembl 70_37 -1 novel missense c.113 p.S38F 0.509 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_bone - no_errors MGP HGNC ENSG00000111341 22 6 21.43 27 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 4674988 4674988 C G SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.27 p.I9M 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 17 6 26.09 32 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4700414 4700414 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 4700414 4700414 C A SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.137 p.T46N 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 62 45 42.06 227 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4730186 4730186 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 4730186 4730186 G A SNP MGRN1 ENST00000592256 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MGRN1 HGNC ENSG00000102858 42 11 20.75 41 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4731718 4731718 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 4731718 4731718 C T SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known silent c.1299 p.I433 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 48 12 20.00 29 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4738820 4738820 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 4738820 4738820 G A SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.1642 p.A548T 0.454 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 20 11 35.48 25 0 0.00 MGRN1 23295 genome.wustl.edu 37 16 4738831 4738831 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 4738831 4738831 C T SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known silent c.1653 p.L551 0.218 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 8 7 46.67 13 0 0.00 MGST3 4259 genome.wustl.edu 37 1 165623517 165623517 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 165623517 165623517 G A SNP MGST3 ENST00000367883 human ensembl 70_37 +1 known missense c.293 p.R98H 0.997 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 124 32 20.51 91 0 0.00 MIA2 117153 genome.wustl.edu 37 14 39716772 39716772 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 39716772 39716772 G A SNP MIA2 ENST00000556784 human ensembl 70_37 +1 known missense c.991 p.E331K 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 79 18 18.56 114 0 0.00 MIA2 117153 genome.wustl.edu 37 14 39722048 39722048 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 39722048 39722048 C T SNP MIA2 ENST00000280082 human ensembl 70_37 +1 novel missense c.1664 p.S555L 0.003 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 49 7 12.50 38 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222794559 222794559 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 222794559 222794559 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known silent c.192 p.V64 0.997 pfam_SH3_2,superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 46 28 37.84 88 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222801802 222801802 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 222801802 222801802 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.1240 p.D414N 0.998 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 143 37 20.33 115 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222802912 222802912 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 222802912 222802912 A T SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2350 p.M784L 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 2 3 60.00 12 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222803319 222803319 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 222803319 222803319 G C SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2757 p.K919N 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 9 3 25.00 16 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222803422 222803422 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 222803422 222803422 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2860 p.E954K 0.884 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 31 7 18.42 21 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222803455 222803455 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 222803455 222803455 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2893 p.E965K 0.689 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 12 16 57.14 28 0 0.00 MIA3 375056 genome.wustl.edu 37 1 222826431 222826431 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 222826431 222826431 G C SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.4168 p.D1390H 1.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 46 35 43.21 48 0 0.00 MIAT 440823 genome.wustl.edu 37 22 27066924 27066925 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 22 27066924 27066925 - T INS MIAT ENST00000421151 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MIAT HGNC ENSG00000225783 49 9 15.52 21 0 0.00 MIB1 57534 genome.wustl.edu 37 18 19359615 19359615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 19359615 19359615 G A SNP MIB1 ENST00000261537 human ensembl 70_37 +1 known missense c.877 p.D293N 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 53 35 39.77 83 0 0.00 MIB1 57534 genome.wustl.edu 37 18 19418375 19418375 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 19418375 19418375 G A SNP MIB1 ENST00000261537 human ensembl 70_37 +1 known missense c.1879 p.E627K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 66 8 10.81 93 0 0.00 MIB2 142678 genome.wustl.edu 37 1 1551903 1551903 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 1551903 1551903 G A SNP MIB2 ENST00000505820 human ensembl 70_37 +1 known missense c.190 p.E64K 0.000 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 24 13 35.14 13 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31378883 31378883 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 31378883 31378883 G C SNP MICA ENST00000364810 human ensembl 70_37 +1 known missense c.360 p.E120D 0.044 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 29 4 12.12 26 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31379931 31379931 + Missense_Mutation SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 31379931 31379931 A T SNP MICA ENST00000364810 human ensembl 70_37 +1 known missense c.821 p.R274L 0.001 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 36 14 28.00 51 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 6 31380161 31380161 G - DEL MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 32 10 23.81 27 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 31380161 31380161 G - DEL MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 63 14 18.18 74 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31380161 31380161 G - DEL MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 34 7 17.07 56 0 0.00 MICA 100507436 genome.wustl.edu 37 6 31380161 31380162 + Frame_Shift_Ins INS - - CT TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 31380161 31380162 - CT INS MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_ins c.952_953 p.G318fs 0.000:0.001 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 9 6 40.00 8 0 0.00 MICAL1 64780 genome.wustl.edu 37 6 109769091 109769091 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 109769091 109769091 C T SNP MICAL1 ENST00000368952 human ensembl 70_37 -1 known missense c.1988 p.R663Q 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 31 44 58.67 62 0 0.00 MICAL2 9645 genome.wustl.edu 37 11 12183914 12183914 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 12183914 12183914 A C SNP MICAL2 ENST00000256194 human ensembl 70_37 +1 known missense c.212 p.K71T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 11 8 42.11 35 0 0.00 MICAL2 9645 genome.wustl.edu 37 11 12281400 12281400 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 12281400 12281400 C A SNP MICAL2 ENST00000256194 human ensembl 70_37 +1 known missense c.3290 p.S1097Y 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 19 6 24.00 42 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18273683 18273683 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 18273683 18273683 C G SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known splice_site c.5825-1 e31-1 1.000 - - - no_errors MICAL3 HGNC ENSG00000243156 26 14 35.00 34 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18301126 18301126 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 18301126 18301126 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.4301 p.S1434F 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 48 34 41.46 36 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18314623 18314623 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 18314623 18314623 C A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known nonsense c.3052 p.E1018* 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 34 9 20.93 42 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18347715 18347715 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 22 18347715 18347715 T C SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.2555 p.D852G 0.829 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 26 4 13.33 10 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18359611 18359611 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 18359611 18359611 T G SNP MICAL3 ENST00000465886 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors MICAL3 HGNC ENSG00000243156 48 8 14.29 33 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18378151 18378151 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 18378151 18378151 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known nonsense c.1348 p.Q450* 1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 47 25 34.72 40 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18379666 18379666 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 18379666 18379666 C G SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.1030 p.D344H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 19 11 35.48 34 0 0.00 MICAL3 57553 genome.wustl.edu 37 22 18387564 18387564 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 18387564 18387564 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known silent c.306 p.A102 1.000 pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 29 6 17.14 31 0 0.00 MICALCL 84953 genome.wustl.edu 37 11 12315972 12315972 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 12315972 12315972 C A SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known missense c.994 p.Q332K 0.940 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 56 24 30.00 98 0 0.00 MICALCL 84953 genome.wustl.edu 37 11 12316100 12316100 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 12316100 12316100 C T SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known silent c.1122 p.L374 0.158 smart_Fertility_inhib_FinO/ProQ pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 170 34 16.50 209 0 0.00 MICALCL 84953 genome.wustl.edu 37 11 12348766 12348766 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 12348766 12348766 C T SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known missense c.1682 p.S561F 0.000 pfam_DUF3585 pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 59 22 27.16 67 0 0.00 MICALL1 85377 genome.wustl.edu 37 22 38313730 38313730 + Silent SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 22 38313730 38313730 C A SNP MICALL1 ENST00000215957 human ensembl 70_37 +1 known silent c.354 p.P118 0.993 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 26 5 16.13 36 0 0.00 MICALL1 85377 genome.wustl.edu 37 22 38323718 38323718 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 38323718 38323718 C T SNP MICALL1 ENST00000215957 human ensembl 70_37 +1 known missense c.1766 p.S589L 0.760 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 128 56 30.43 258 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1474116 1474116 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 1474116 1474116 C T SNP MICALL2 ENST00000471899 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MICALL2 HGNC ENSG00000164877 52 8 13.33 86 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1474750 1474750 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 1474750 1474750 C T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.2625 p.M875I 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 56 22 28.21 57 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1479617 1479617 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 1479617 1479617 G T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.1910 p.T637N 0.001 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 32 44 57.89 45 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1479625 1479625 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 1479625 1479625 G A SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known silent c.1902 p.I634 0.046 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 17 8 32.00 37 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1484568 1484568 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 7 1484568 1484568 C T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.1138 p.G380R 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 16 7 30.43 34 0 0.00 MICALL2 79778 genome.wustl.edu 37 7 1484696 1484696 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 1484696 1484696 C T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.1010 p.R337H 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 25 5 16.67 35 0 0.00 MICB 4277 genome.wustl.edu 37 6 31474941 31474941 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31474941 31474941 G A SNP MICB ENST00000252229 human ensembl 70_37 +1 known silent c.756 p.Q252 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICB HGNC ENSG00000204516 77 25 24.51 79 0 0.00 MICU1 10367 genome.wustl.edu 37 10 74128100 74128100 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 10 74128100 74128100 C T SNP MICU1 ENST00000398761 human ensembl 70_37 -1 known silent c.1290 p.L430 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MICU1 HGNC ENSG00000107745 38 10 20.83 57 0 0.00 MID1 4281 genome.wustl.edu 37 X 10535234 10535234 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 10535234 10535234 G C SNP MID1 ENST00000317552 human ensembl 70_37 -1 known silent c.354 p.L118 1.000 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 38 16 29.63 80 0 0.00 MID1IP1 58526 genome.wustl.edu 37 X 38664284 38664284 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 38664284 38664284 G A SNP MID1IP1 ENST00000336949 human ensembl 70_37 +1 known missense c.85 p.D29N 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors MID1IP1 HGNC ENSG00000165175 45 39 45.88 51 0 0.00 MID2 11043 genome.wustl.edu 37 X 107084146 107084146 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 107084146 107084146 C G SNP MID2 ENST00000262843 human ensembl 70_37 +1 known missense c.251 p.S84W 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 34 27 44.26 63 0 0.00 MID2 11043 genome.wustl.edu 37 X 107148838 107148839 + Frame_Shift_Ins INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 107148838 107148839 - A INS MID2 ENST00000262843 human ensembl 70_37 +1 known frame_shift_ins c.1055_1056 p.N354fs 1.000:1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 55 11 16.67 62 0 0.00 MIEN1 84299 genome.wustl.edu 37 17 37885784 37885784 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 37885784 37885784 G T SNP MIEN1 ENST00000394231 human ensembl 70_37 -1 known silent c.339 p.V113 0.999 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 30 60 66.67 119 0 0.00 MIEN1 84299 genome.wustl.edu 37 17 37886509 37886509 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 37886509 37886509 A G SNP MIEN1 ENST00000394231 human ensembl 70_37 -1 known missense c.125 p.L42P 1.000 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 25 21 45.65 58 0 0.00 MIER1 57708 genome.wustl.edu 37 1 67423820 67423820 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 67423820 67423820 G A SNP MIER1 ENST00000401041 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 34 20 37.04 49 0 0.00 MIER1 57708 genome.wustl.edu 37 1 67423853 67423853 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 67423853 67423853 G A SNP MIER1 ENST00000401041 human ensembl 70_37 +1 known missense c.451 p.D151N 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 91 13 12.50 95 0 0.00 MIER1 57708 genome.wustl.edu 37 1 67425385 67425385 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 67425385 67425385 G A SNP MIER1 ENST00000401041 human ensembl 70_37 +1 known missense c.658 p.E220K 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 50 7 12.28 54 0 0.00 MIER1 57708 genome.wustl.edu 37 1 67425494 67425495 + RNA INS - - T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 67425494 67425495 - T INS MIER1 ENST00000493357 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIER1 HGNC ENSG00000198160 14 5 26.32 16 0 0.00 MIER2 54531 genome.wustl.edu 37 19 307174 307174 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 307174 307174 G A SNP MIER2 ENST00000264819 human ensembl 70_37 -1 known silent c.1561 p.L521 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 96 28 22.58 92 0 0.00 MIER2 54531 genome.wustl.edu 37 19 308613 308613 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 308613 308613 G A SNP MIER2 ENST00000264819 human ensembl 70_37 -1 known missense c.1162 p.R388C 0.005 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 9 47 83.93 93 0 0.00 MIER3 166968 genome.wustl.edu 37 5 56219369 56219369 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 56219369 56219369 C T SNP MIER3 ENST00000381199 human ensembl 70_37 -1 known silent c.1239 p.V413 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 39 5 11.36 52 0 0.00 MIIP 60672 genome.wustl.edu 37 1 12089808 12089808 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 12089808 12089808 C T SNP MIIP ENST00000466860 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIIP HGNC ENSG00000116691 44 55 55.56 61 0 0.00 MIIP 60672 genome.wustl.edu 37 1 12091427 12091427 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12091427 12091427 G C SNP MIIP ENST00000235332 human ensembl 70_37 +1 known missense c.1047 p.Q349H 0.020 NULL NULL - no_errors MIIP HGNC ENSG00000116691 38 30 44.12 42 0 0.00 MIMT1 100073347 genome.wustl.edu 37 19 57352729 57352729 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 57352729 57352729 C T SNP MIMT1 ENST00000597105 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIMT1 HGNC ENSG00000268654 48 12 20.00 30 0 0.00 MINA 84864 genome.wustl.edu 37 3 97677937 97677937 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 97677937 97677937 G A SNP MINA ENST00000333396 human ensembl 70_37 -1 known silent c.639 p.A213 0.001 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 105 16 13.22 57 0 0.00 MINK1 50488 genome.wustl.edu 37 17 4794897 4794897 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 4794897 4794897 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.1887 p.T629 0.358 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC ENSG00000141503 46 11 19.30 106 0 0.00 MINK1 50488 genome.wustl.edu 37 17 4794980 4794980 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 4794980 4794980 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known nonsense c.1970 p.W657* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC ENSG00000141503 45 6 11.76 35 0 0.00 MINK1 50488 genome.wustl.edu 37 17 4795728 4795728 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4795728 4795728 C T SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.2119 p.L707 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC ENSG00000141503 1 4 80.00 12 0 0.00 MINK1 50488 genome.wustl.edu 37 17 4799783 4799783 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4799783 4799783 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.3675 p.E1225 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC ENSG00000141503 47 25 34.72 68 0 0.00 MINOS1 440574 genome.wustl.edu 37 1 19923492 19923492 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 19923492 19923492 G C SNP MINOS1 ENST00000462646 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors MINOS1 HGNC ENSG00000173436 48 16 25.00 76 0 0.00 MINOS1 440574 genome.wustl.edu 37 1 19923511 19923511 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 19923511 19923511 G A SNP MINOS1 ENST00000462646 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MINOS1 HGNC ENSG00000173436 40 45 52.94 70 0 0.00 MINOS1 440574 genome.wustl.edu 37 1 19952930 19952930 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19952930 19952930 G C SNP MINOS1 ENST00000467029 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MINOS1 HGNC ENSG00000173436 48 18 27.27 53 0 0.00 MINOS1P1 100462953 genome.wustl.edu 37 13 33070650 33070650 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 33070650 33070650 G A SNP MINOS1P1 ENST00000450112 human ensembl 70_37 -1 known rna NULL NULL 0.284 - - - no_errors MINOS1P1 HGNC ENSG00000230905 13 8 38.10 18 0 0.00 MIOS 54468 genome.wustl.edu 37 7 7622951 7622951 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 7622951 7622951 G C SNP MIOS ENST00000340080 human ensembl 70_37 +1 known missense c.1596 p.L532F 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 25 6 19.35 23 0 0.00 MIOS 54468 genome.wustl.edu 37 7 7634623 7634623 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 7634623 7634623 G A SNP MIOS ENST00000340080 human ensembl 70_37 +1 known missense c.2056 p.D686N 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 54 23 29.49 80 0 0.00 MIOX 55586 genome.wustl.edu 37 22 50928004 50928004 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 50928004 50928004 C T SNP MIOX ENST00000216075 human ensembl 70_37 +1 known missense c.680 p.T227M 0.990 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 13 26 66.67 15 0 0.00 MIOX 55586 genome.wustl.edu 37 22 50928004 50928004 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 22 50928004 50928004 C T SNP MIOX ENST00000216075 human ensembl 70_37 +1 known missense c.680 p.T227M 0.990 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 17 15 44.12 34 0 0.00 MIPOL1 145282 genome.wustl.edu 37 14 37854916 37854916 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 37854916 37854916 C A SNP MIPOL1 ENST00000554930 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIPOL1 HGNC ENSG00000151338 16 4 20.00 47 0 0.00 MIPOL1 145282 genome.wustl.edu 37 14 37854919 37854920 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 37854919 37854920 - A INS MIPOL1 ENST00000554930 human ensembl 70_37 +1 known rna NULL NULL 0.227:0.224 - - - no_errors MIPOL1 HGNC ENSG00000151338 17 4 19.05 52 0 0.00 MIR1203 100302211 genome.wustl.edu 37 17 46233793 46233793 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 46233793 46233793 C T SNP MIR1203 ENST00000408812 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1203 HGNC ENSG00000221739 13 6 31.58 22 0 0.00 MIR1204 100302185 genome.wustl.edu 37 8 128808236 128808236 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 128808236 128808236 G A SNP MIR1204 ENST00000408388 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR1204 HGNC ENSG00000221315 808 109 11.87 24 0 0.00 MIR1205 100302161 genome.wustl.edu 37 8 128972893 128972893 + RNA SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 128972893 128972893 G C SNP MIR1205 ENST00000408844 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors MIR1205 HGNC ENSG00000221771 53 15 22.06 92 0 0.00 MIR124-2 406908 genome.wustl.edu 37 8 65291792 65291792 + RNA SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 8 65291792 65291792 C T SNP MIR124-2 ENST00000385081 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-2 HGNC ENSG00000207816 46 13 21.67 47 0 0.00 MIR124-3 406909 genome.wustl.edu 37 20 61809853 61809853 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 61809853 61809853 G C SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors MIR124-3 HGNC ENSG00000207598 1 17 94.44 47 0 0.00 MIR124-3 406909 genome.wustl.edu 37 20 61809863 61809863 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 61809863 61809863 C T SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC ENSG00000207598 22 21 48.84 28 0 0.00 MIR124-3 406909 genome.wustl.edu 37 20 61809894 61809894 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 61809894 61809894 T C SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC ENSG00000207598 14 5 26.32 30 0 0.00 MIR1252 100302136 genome.wustl.edu 37 12 79813096 79813096 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 79813096 79813096 T G SNP MIR1252 ENST00000408861 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors MIR1252 HGNC ENSG00000221788 18 4 18.18 40 0 0.00 MIR1266 100302202 genome.wustl.edu 37 15 52569361 52569361 + RNA SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 52569361 52569361 C A SNP MIR1266 ENST00000408125 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1266 HGNC ENSG00000221052 26 4 13.33 37 0 0.00 MIR128-2 406916 genome.wustl.edu 37 3 35786005 35786005 + RNA SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 35786005 35786005 G C SNP MIR128-2 ENST00000384893 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR128-2 HGNC ENSG00000207625 28 8 22.22 39 0 0.00 MIR1302-3 100302128 genome.wustl.edu 37 2 114340638 114340638 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 114340638 114340638 C T SNP MIR1302-3 ENST00000408128 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1302-3 HGNC ENSG00000221055 105 14 11.67 182 1 0.55 MIR1307 100302174 genome.wustl.edu 37 10 105154054 105154054 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 105154054 105154054 C T SNP MIR1307 ENST00000408840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1307 HGNC ENSG00000221767 68 22 24.44 93 0 0.00 MIR133A1 406922 genome.wustl.edu 37 18 19409106 19409106 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 19409106 19409106 G A SNP MIR133A1 ENST00000581072 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors hsa-mir-133a-1 miRBase ENSG00000265142 13 5 27.78 20 0 0.00 MIR135A1 406925 genome.wustl.edu 37 3 52328287 52328287 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52328287 52328287 C G SNP MIR135A1 ENST00000385191 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR135A1 HGNC ENSG00000207926 160 56 25.93 200 0 0.00 MIR137HG 400765 genome.wustl.edu 37 1 98515117 98515117 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 98515117 98515117 C T SNP MIR137HG ENST00000424528 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC ENSG00000231269 38 13 25.49 69 0 0.00 MIR137HG 400765 genome.wustl.edu 37 1 98515117 98515117 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 98515117 98515117 C T SNP MIR137HG ENST00000424528 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC ENSG00000231269 70 11 13.25 43 0 0.00 MIR138-2 406930 genome.wustl.edu 37 16 56892472 56892472 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 16 56892472 56892472 C T SNP MIR138-2 ENST00000384916 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR138-2 HGNC ENSG00000207649 24 16 40.00 37 0 0.00 MIR141 406933 genome.wustl.edu 37 12 7073317 7073317 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7073317 7073317 C G SNP MIR141 ENST00000384975 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR141 HGNC ENSG00000207708 40 10 19.61 44 0 0.00 MIR142 406934 genome.wustl.edu 37 17 56408533 56408533 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 56408533 56408533 G A SNP MIR142 ENST00000579003 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-142 miRBase ENSG00000265206 32 7 17.95 15 0 0.00 MIR1468 100302115 genome.wustl.edu 37 X 63005939 63005939 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 63005939 63005939 G A SNP MIR1468 ENST00000410600 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors MIR1468 HGNC ENSG00000222532 8 4 33.33 54 0 0.00 MIR1469 100302258 genome.wustl.edu 37 15 96876510 96876510 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 96876510 96876510 C T SNP MIR1469 ENST00000410719 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1469 HGNC ENSG00000222651 21 5 19.23 53 0 0.00 MIR146B 574447 genome.wustl.edu 37 10 104196339 104196339 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 10 104196339 104196339 C T SNP MIR146B ENST00000365699 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors MIR146B HGNC ENSG00000202569 43 25 36.76 33 0 0.00 MIR151A 442893 genome.wustl.edu 37 8 141742741 141742741 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 141742741 141742741 G A SNP MIR151A ENST00000385057 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR151A HGNC ENSG00000207792 23 7 23.33 20 0 0.00 MIR17HG 407975 genome.wustl.edu 37 13 92003784 92003784 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 92003784 92003784 C G SNP MIR17HG ENST00000581816 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR17HG HGNC ENSG00000215417 58 8 11.94 32 0 0.00 MIR181A1 406995 genome.wustl.edu 37 1 198828217 198828218 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 198828217 198828218 - A INS MIR181A1 ENST00000385026 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR181A1 HGNC ENSG00000207759 7 2 22.22 28 0 0.00 MIR190B 100126346 genome.wustl.edu 37 1 154166153 154166153 + RNA SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 154166153 154166153 G C SNP MIR190B ENST00000401119 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR190B HGNC ENSG00000215938 33 6 15.00 29 0 0.00 MIR19B2 406981 genome.wustl.edu 37 X 133303739 133303739 + RNA SNP A A C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 133303739 133303739 A C SNP MIR19B2 ENST00000385077 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors MIR19B2 HGNC ENSG00000207812 31 4 11.43 27 0 0.00 MIR202 574448 genome.wustl.edu 37 10 135061019 135061019 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 135061019 135061019 G A SNP MIR202 ENST00000362219 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR202 HGNC ENSG00000199089 83 56 40.29 118 0 0.00 MIR205 406988 genome.wustl.edu 37 1 209605512 209605512 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 209605512 209605512 C T SNP MIR205 ENST00000384891 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205 HGNC ENSG00000207623 66 35 34.65 93 0 0.00 MIR205HG 642587 genome.wustl.edu 37 1 209603832 209603832 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 209603832 209603832 C T SNP MIR205HG ENST00000419143 human ensembl 70_37 +1 known rna NULL NULL 0.052 - - - no_errors MIR205HG HGNC ENSG00000230937 60 8 11.76 70 0 0.00 MIR205HG 642587 genome.wustl.edu 37 1 209605571 209605571 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605571 209605571 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205HG HGNC ENSG00000230937 43 21 32.81 48 0 0.00 MIR205HG 642587 genome.wustl.edu 37 1 209605579 209605579 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605579 209605579 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205HG HGNC ENSG00000230937 35 18 33.96 43 0 0.00 MIR205HG 642587 genome.wustl.edu 37 1 209605636 209605637 + RNA INS - - AGC TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 209605636 209605637 - AGC INS MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MIR205HG HGNC ENSG00000230937 67 13 16.25 20 0 0.00 MIR205HG 642587 genome.wustl.edu 37 1 209605721 209605721 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 209605721 209605721 G A SNP MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors MIR205HG HGNC ENSG00000230937 8 5 38.46 14 0 0.00 MIR211 406993 genome.wustl.edu 37 15 31357253 31357253 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 31357253 31357253 G A SNP MIR211 ENST00000384969 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR211 HGNC ENSG00000207702 42 9 17.65 31 0 0.00 MIR2117 100313779 genome.wustl.edu 37 17 41522139 41522139 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 41522139 41522139 G C SNP MIR2117 ENST00000588060 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors hsa-mir-2117 miRBase ENSG00000267151 28 26 47.27 65 0 0.00 MIR219-2 407003 genome.wustl.edu 37 9 131154981 131154981 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131154981 131154981 G A SNP MIR219-2 ENST00000385220 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR219-2 HGNC ENSG00000207955 54 32 37.21 89 0 0.00 MIR22HG 84981 genome.wustl.edu 37 17 1616845 1616845 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 1616845 1616845 C T SNP MIR22HG ENST00000574306 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR22HG HGNC ENSG00000186594 9 5 35.71 8 0 0.00 MIR2909 100422969 genome.wustl.edu 37 17 35391067 35391067 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 35391067 35391067 C G SNP MIR2909 ENST00000581942 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR2909 HGNC ENSG00000266141 19 15 44.12 18 0 0.00 MIR296 407022 genome.wustl.edu 37 20 57392249 57392249 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 57392249 57392249 A G SNP MIR296 ENST00000596276 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-296 miRBase ENSG00000268649 53 7 11.67 46 0 0.00 MIR29C 407026 genome.wustl.edu 37 1 207975270 207975270 + RNA SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 207975270 207975270 G T SNP MIR29C ENST00000385231 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR29C HGNC ENSG00000207966 20 4 16.67 30 0 0.00 MIR301A 407027 genome.wustl.edu 37 17 57228532 57228532 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 57228532 57228532 G A SNP MIR301A ENST00000385261 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR301A HGNC ENSG00000207996 27 11 28.95 54 0 0.00 MIR302A 407028 genome.wustl.edu 37 4 113569401 113569403 + RNA DEL GTG GTG - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 113569401 113569403 GTG - DEL MIR302A ENST00000385192 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000:0.997 - - - no_errors MIR302A HGNC ENSG00000207927 28 5 15.15 41 0 0.00 MIR3118-6 100422906 genome.wustl.edu 37 15 21038126 21038128 + RNA DEL TAC TAC - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 TAC TAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 21038126 21038128 TAC - DEL MIR3118-6 ENST00000584700 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MIR3118-6 HGNC ENSG00000265322 13 10 43.48 8 0 0.00 MIR3122 100422947 genome.wustl.edu 37 1 212251014 212251014 + RNA SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 1 212251014 212251014 C T SNP MIR3122 ENST00000577243 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors MIR3122 HGNC ENSG00000264358 16 5 22.73 30 0 0.00 MIR3136 100422859 genome.wustl.edu 37 3 69098114 69098114 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 69098114 69098114 G A SNP MIR3136 ENST00000583498 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3136 HGNC ENSG00000265355 36 5 12.20 32 0 0.00 MIR3140 100422896 genome.wustl.edu 37 4 153410533 153410533 + RNA SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 153410533 153410533 A G SNP MIR3140 ENST00000583685 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3140 HGNC ENSG00000264678 31 31 50.00 49 0 0.00 MIR3142 100422938 genome.wustl.edu 37 5 159901450 159901450 + RNA SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 159901450 159901450 C A SNP MIR3142 ENST00000582487 human ensembl 70_37 +1 known rna NULL NULL 0.566 - - - no_errors MIR3142 HGNC ENSG00000265237 29 4 12.12 17 0 0.00 MIR3142 100422938 genome.wustl.edu 37 5 159901453 159901453 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 159901453 159901453 C G SNP MIR3142 ENST00000582487 human ensembl 70_37 +1 known rna NULL NULL 0.698 - - - no_errors MIR3142 HGNC ENSG00000265237 20 5 19.23 17 0 0.00 MIR3186 100422944 genome.wustl.edu 37 17 79418141 79418141 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79418141 79418141 C T SNP MIR3186 ENST00000577404 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3186 HGNC ENSG00000266189 19 5 20.83 16 0 0.00 MIR3193 100422904 genome.wustl.edu 37 20 30195015 30195015 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 30195015 30195015 G A SNP MIR3193 ENST00000578262 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3193 HGNC ENSG00000264395 27 23 46.00 52 0 0.00 MIR328 442901 genome.wustl.edu 37 16 67236241 67236241 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67236241 67236241 G A SNP MIR328 ENST00000385213 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR328 HGNC ENSG00000207948 105 34 24.46 154 0 0.00 MIR34A 407040 genome.wustl.edu 37 1 9211750 9211750 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 9211750 9211750 C G SNP MIR34A ENST00000385130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR34A HGNC ENSG00000207865 85 31 26.72 140 0 0.00 MIR3609 100500819 genome.wustl.edu 37 7 98479347 98479347 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 98479347 98479347 G A SNP MIR3609 ENST00000582661 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR3609 HGNC ENSG00000266019 10 8 44.44 28 0 0.00 MIR3611 100500890 genome.wustl.edu 37 10 35368540 35368540 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 35368540 35368540 G A SNP MIR3611 ENST00000584484 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors MIR3611 HGNC ENSG00000266228 50 10 16.67 41 0 0.00 MIR3614 100500827 genome.wustl.edu 37 17 54968690 54968690 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 54968690 54968690 C T SNP MIR3614 ENST00000581261 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors MIR3614 HGNC ENSG00000265238 37 25 40.32 38 0 0.00 MIR3648 100500862 genome.wustl.edu 37 21 9825951 9825951 + RNA SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 21 9825951 9825951 G A SNP MIR3648 ENST00000581792 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors MIR3648 HGNC ENSG00000264462 22 6 21.43 27 0 0.00 MIR3648 100500862 genome.wustl.edu 37 21 9825991 9825991 + RNA SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 21 9825991 9825991 C G SNP MIR3648 ENST00000581792 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors MIR3648 HGNC ENSG00000264462 7 4 36.36 12 0 0.00 MIR3654 100500804 genome.wustl.edu 37 11 62327752 62327752 + Splice_Site SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 62327752 62327752 A C SNP MIR3654 ENST00000496634 human ensembl 70_37 -1 known splice_site c.1578+2 e9+2 0.079 - - - no_errors MIR3654 HGNC ENSG00000255508 43 33 43.42 69 0 0.00 MIR3689A 100500846 genome.wustl.edu 37 9 137741346 137741346 + RNA SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 137741346 137741346 A G SNP MIR3689A ENST00000578854 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3689A HGNC ENSG00000265872 8 6 42.86 11 0 0.00 MIR369 442914 genome.wustl.edu 37 14 101531976 101531976 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101531976 101531976 C T SNP MIR369 ENST00000362155 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR369 HGNC ENSG00000199025 18 15 45.45 42 0 0.00 MIR376C 442913 genome.wustl.edu 37 14 101506099 101506099 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 101506099 101506099 C T SNP MIR376C ENST00000459389 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR376C HGNC ENSG00000238682 27 12 30.77 38 0 0.00 MIR377 494326 genome.wustl.edu 37 14 101528409 101528409 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101528409 101528409 G A SNP MIR377 ENST00000362145 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR377 HGNC ENSG00000199015 73 51 41.13 79 0 0.00 MIR3941 100500866 genome.wustl.edu 37 10 124176505 124176505 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124176505 124176505 G C SNP MIR3941 ENST00000582572 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3941 HGNC ENSG00000265442 10 6 37.50 42 0 0.00 MIR425 494337 genome.wustl.edu 37 3 49057611 49057611 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 49057611 49057611 G A SNP MIR425 ENST00000362162 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR425 HGNC ENSG00000199032 17 21 55.26 25 0 0.00 MIR4310 100423013 genome.wustl.edu 37 15 42158710 42158710 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42158710 42158710 G A SNP MIR4310 ENST00000582950 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4310 HGNC ENSG00000264850 12 7 36.84 24 0 0.00 MIR4313 100423035 genome.wustl.edu 37 15 76054601 76054601 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 76054601 76054601 C T SNP MIR4313 ENST00000561777 human ensembl 70_37 -1 known rna NULL NULL 0.059 - - - no_errors MIR4313 HGNC ENSG00000261043 54 29 34.94 66 0 0.00 MIR4325 100422883 genome.wustl.edu 37 20 55896644 55896644 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 55896644 55896644 C T SNP MIR4325 ENST00000583049 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MIR4325 HGNC ENSG00000266666 37 14 27.45 66 0 0.00 MIR4477B 100616194 genome.wustl.edu 37 9 68415379 68415379 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 68415379 68415379 G A SNP MIR4477B ENST00000581659 human ensembl 70_37 +1 known rna NULL NULL 0.197 - - - no_errors MIR4477B HGNC ENSG00000266017 7 6 46.15 19 0 0.00 MIR4477B 100616194 genome.wustl.edu 37 9 68415379 68415379 + RNA SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 68415379 68415379 G A SNP MIR4477B ENST00000581659 human ensembl 70_37 +1 known rna NULL NULL 0.197 - - - no_errors MIR4477B HGNC ENSG00000266017 4 5 55.56 12 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 1719 1719 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 1719 1719 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 34 5 12.82 112 1 0.88 MIR4485 100616263 genome.wustl.edu 37 MT 1746 1746 + RNA SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 MT 1746 1746 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 2 2 50.00 16 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 1747 1747 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 MT 1747 1747 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 1 9 90.00 13 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 1750 1750 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 1750 1750 G T SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 5 2 28.57 28 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 2174 2174 + RNA SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 MT 2174 2174 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 11 3 21.43 37 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 2199 2199 + RNA SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 MT 2199 2199 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 15 2 11.76 75 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 2436 2436 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 MT 2436 2436 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 63 107 62.94 572 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 2690 2690 + RNA SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b MT 2690 2690 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 2 6 75.00 34 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 2909 2909 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 2909 2909 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 20 11 35.48 373 1 0.27 MIR4485 100616263 genome.wustl.edu 37 MT 3047 3047 + RNA SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 MT 3047 3047 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 3 26 89.66 102 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 3179 3179 + RNA SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 MT 3179 3179 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 4 2 33.33 16 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 3184 3184 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b MT 3184 3184 C T SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 5 11 68.75 27 0 0.00 MIR4485 100616263 genome.wustl.edu 37 MT 3221 3221 + RNA SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd MT 3221 3221 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC ENSG00000210082 2 4 66.67 47 0 0.00 MIR4664 100616318 genome.wustl.edu 37 8 144815256 144815256 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 144815256 144815256 G C SNP MIR4664 ENST00000583819 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4664 HGNC ENSG00000265660 46 14 23.33 32 0 0.00 MIR4695 100616120 genome.wustl.edu 37 1 19209751 19209751 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 19209751 19209751 G A SNP MIR4695 ENST00000577305 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4695 HGNC ENSG00000265606 30 18 37.50 61 0 0.00 MIR4749 100616313 genome.wustl.edu 37 19 50357852 50357852 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 50357852 50357852 C T SNP MIR4749 ENST00000578197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4749 HGNC ENSG00000265954 25 14 35.90 43 0 0.00 MIR490 574443 genome.wustl.edu 37 7 136588013 136588013 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 136588013 136588013 G A SNP MIR490 ENST00000384865 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR490 HGNC ENSG00000207597 36 13 26.53 48 0 0.00 MIR497HG 100506755 genome.wustl.edu 37 17 6919759 6919759 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 6919759 6919759 C G SNP MIR497HG ENST00000572453 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR497HG HGNC ENSG00000267532 25 10 28.57 27 0 0.00 MIR500B 100422911 genome.wustl.edu 37 X 49775347 49775347 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 49775347 49775347 C T SNP MIR500B ENST00000458843 human ensembl 70_37 +1 known rna NULL NULL 0.215 - - - no_errors MIR500B HGNC ENSG00000239057 40 12 23.08 48 0 0.00 MIR5010 100847046 genome.wustl.edu 37 17 40666231 40666231 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 40666231 40666231 G A SNP MIR5010 ENST00000582846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR5010 HGNC ENSG00000265611 29 14 32.56 49 0 0.00 MIR505 574508 genome.wustl.edu 37 X 139006318 139006318 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 139006318 139006318 G A SNP MIR505 ENST00000384901 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR505 HGNC ENSG00000207633 26 10 27.78 27 0 0.00 MIR509-3 100126337 genome.wustl.edu 37 X 146341192 146341192 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 146341192 146341192 G A SNP MIR509-3 ENST00000390725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR509-3 HGNC ENSG00000212014 90 19 17.43 93 0 0.00 MIR512-1 574458 genome.wustl.edu 37 19 54170018 54170018 + RNA SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 19 54170018 54170018 G A SNP MIR512-1 ENST00000384913 human ensembl 70_37 +1 known rna NULL NULL 0.182 - - - no_errors MIR512-1 HGNC ENSG00000207645 3 4 57.14 11 0 0.00 MIR516A1 574498 genome.wustl.edu 37 19 54259998 54259998 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 54259998 54259998 C T SNP MIR516A1 ENST00000385033 human ensembl 70_37 +1 known rna NULL NULL 0.139 - - - no_errors MIR516A1 HGNC ENSG00000207767 272 45 14.15 286 0 0.00 MIR516A2 574499 genome.wustl.edu 37 19 54264452 54264452 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54264452 54264452 C T SNP MIR516A2 ENST00000384888 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors MIR516A2 HGNC ENSG00000207620 70 17 19.32 66 0 0.00 MIR5187 100847090 genome.wustl.edu 37 1 161197035 161197035 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 161197035 161197035 C T SNP MIR5187 ENST00000583479 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR5187 HGNC ENSG00000263548 39 16 29.09 47 0 0.00 MIR518A1 574488 genome.wustl.edu 37 19 54234341 54234341 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 54234341 54234341 G C SNP MIR518A1 ENST00000385068 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR518A1 HGNC ENSG00000207803 24 17 41.46 54 0 0.00 MIR518B 574474 genome.wustl.edu 37 19 54206023 54206023 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 54206023 54206023 C G SNP MIR518B ENST00000385127 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors MIR518B HGNC ENSG00000207862 54 17 23.94 94 0 0.00 MIR519A1 574496 genome.wustl.edu 37 19 54255684 54255684 + RNA SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 54255684 54255684 C G SNP MIR519A1 ENST00000385257 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR519A1 HGNC ENSG00000207992 199 105 34.54 139 1 0.71 MIR520D 574482 genome.wustl.edu 37 19 54223419 54223419 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 54223419 54223419 G A SNP MIR520D ENST00000385002 human ensembl 70_37 +1 known rna NULL NULL 0.251 - - - no_errors MIR520D HGNC ENSG00000207735 106 26 19.70 107 0 0.00 MIR520F 574464 genome.wustl.edu 37 19 54185499 54185499 + RNA SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54185499 54185499 A G SNP MIR520F ENST00000384824 human ensembl 70_37 +1 known rna NULL NULL 0.228 - - - no_errors MIR520F HGNC ENSG00000207555 69 17 19.77 85 0 0.00 MIR539 664612 genome.wustl.edu 37 14 101513678 101513678 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101513678 101513678 C T SNP MIR539 ENST00000365690 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR539 HGNC ENSG00000202560 44 22 33.33 79 0 0.00 MIR548B 693128 genome.wustl.edu 37 6 119390228 119390228 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 119390228 119390228 C A SNP MIR548B ENST00000385247 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors MIR548B HGNC ENSG00000207982 31 14 31.11 58 0 0.00 MIR548F4 100313895 genome.wustl.edu 37 7 147075210 147075210 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 147075210 147075210 A C SNP MIR548F4 ENST00000408515 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR548F4 HGNC ENSG00000221442 23 8 25.81 44 0 0.00 MIR548X2 100616302 genome.wustl.edu 37 13 66540508 66540508 + RNA SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 66540508 66540508 T G SNP MIR548X2 ENST00000579776 human ensembl 70_37 -1 known rna NULL NULL 0.889 - - - no_errors MIR548X2 HGNC ENSG00000263581 28 22 44.00 45 0 0.00 MIR558 693143 genome.wustl.edu 37 2 32757248 32757248 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32757248 32757248 G T SNP MIR558 ENST00000384920 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR558 HGNC ENSG00000207653 19 18 48.65 20 0 0.00 MIR558 693143 genome.wustl.edu 37 2 32757248 32757248 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32757248 32757248 G T SNP MIR558 ENST00000384920 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR558 HGNC ENSG00000207653 58 23 28.40 105 0 0.00 MIR5582 100847020 genome.wustl.edu 37 11 46774719 46774720 + RNA INS - - C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 46774719 46774720 - C INS MIR5582 ENST00000579697 human ensembl 70_37 -1 known rna NULL NULL 0.100:0.067 - - - no_errors MIR5582 HGNC ENSG00000263540 20 3 13.04 35 0 0.00 MIR567 693152 genome.wustl.edu 37 3 111831724 111831724 + RNA DEL A A - TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 111831724 111831724 A - DEL MIR567 ENST00000385205 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR567 HGNC ENSG00000207940 15 3 16.67 22 0 0.00 MIR570 693155 genome.wustl.edu 37 3 195426281 195426281 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195426281 195426281 T G SNP MIR570 ENST00000384917 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR570 HGNC ENSG00000207650 23 7 23.33 44 0 0.00 MIR571 693156 genome.wustl.edu 37 4 343955 343955 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 343955 343955 G C SNP MIR571 ENST00000384910 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors MIR571 HGNC ENSG00000207642 46 30 38.96 56 0 0.00 MIR596 693181 genome.wustl.edu 37 8 1765426 1765426 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 1765426 1765426 C T SNP MIR596 ENST00000385091 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR596 HGNC ENSG00000207826 44 15 25.42 50 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125872650 125872650 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125872650 125872650 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 23 15 39.47 29 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125873068 125873068 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125873068 125873068 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 19 10 34.48 21 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125873139 125873139 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 125873139 125873139 C T SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 38 12 24.00 41 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125873767 125873767 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 125873767 125873767 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors MIR600HG HGNC ENSG00000236901 37 10 21.28 41 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125873767 125873767 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 125873767 125873767 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors MIR600HG HGNC ENSG00000236901 9 13 59.09 26 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125874409 125874409 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 125874409 125874409 C T SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 17 30 63.83 60 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125876195 125876195 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 125876195 125876195 G C SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 36 9 20.00 24 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125876611 125876611 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125876611 125876611 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 24 13 35.14 36 0 0.00 MIR600HG 81571 genome.wustl.edu 37 9 125877117 125877117 + RNA SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 125877117 125877117 G T SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 23 24 51.06 37 0 0.00 MIR604 693189 genome.wustl.edu 37 10 29833999 29833999 + RNA SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 29833999 29833999 G T SNP MIR604 ENST00000384880 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR604 HGNC ENSG00000207612 35 8 18.60 39 0 0.00 MIR639 693224 genome.wustl.edu 37 19 14640413 14640413 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 14640413 14640413 C G SNP MIR639 ENST00000384974 human ensembl 70_37 +1 known rna NULL NULL 0.594 - - - no_errors MIR639 HGNC ENSG00000207707 33 20 37.74 31 0 0.00 MIR642A 693227 genome.wustl.edu 37 19 46178253 46178253 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46178253 46178253 G A SNP MIR642A ENST00000385039 human ensembl 70_37 +1 known rna NULL NULL 0.251 - - - no_errors MIR642A HGNC ENSG00000207773 48 14 22.58 47 0 0.00 MIR646 693231 genome.wustl.edu 37 20 58883613 58883613 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58883613 58883613 C G SNP MIR646 ENST00000385067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR646 HGNC ENSG00000207802 30 11 26.83 37 0 0.00 MIR663B 100313824 genome.wustl.edu 37 2 133014580 133014580 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 133014580 133014580 C T SNP MIR663B ENST00000408361 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors MIR663B HGNC ENSG00000221288 33 7 17.07 32 0 0.00 MIR663B 100313824 genome.wustl.edu 37 2 133014619 133014619 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 133014619 133014619 C T SNP MIR663B ENST00000408361 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MIR663B HGNC ENSG00000221288 25 8 24.24 33 0 0.00 MIR676 100500887 genome.wustl.edu 37 X 69242715 69242715 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69242715 69242715 C A SNP MIR676 ENST00000390702 human ensembl 70_37 +1 known rna NULL NULL 0.966 - - - no_errors MIR676 HGNC ENSG00000211991 17 9 34.62 50 0 0.00 MIR7-2 407044 genome.wustl.edu 37 15 89155061 89155061 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89155061 89155061 T C SNP MIR7-2 ENST00000384970 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR7-2 HGNC ENSG00000207703 9 7 43.75 26 0 0.00 MIR7-3 407045 genome.wustl.edu 37 19 4770688 4770688 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4770688 4770688 G C SNP MIR7-3 ENST00000384898 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors MIR7-3 HGNC ENSG00000207630 165 27 14.06 156 0 0.00 MIR890 100126303 genome.wustl.edu 37 X 145075803 145075803 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 145075803 145075803 T G SNP MIR890 ENST00000401256 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR890 HGNC ENSG00000216075 47 12 20.34 46 0 0.00 MIR891A 100126341 genome.wustl.edu 37 X 145109368 145109368 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 145109368 145109368 C T SNP MIR891A ENST00000401237 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR891A HGNC ENSG00000216056 61 7 10.29 48 0 0.00 MIR892B 100126307 genome.wustl.edu 37 X 145078734 145078734 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 145078734 145078734 G T SNP MIR892B ENST00000401279 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR892B HGNC ENSG00000216098 9 8 47.06 25 0 0.00 MIR9-2 407047 genome.wustl.edu 37 5 87962739 87962739 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 87962739 87962739 A C SNP MIR9-2 ENST00000384838 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR9-2 HGNC ENSG00000207570 17 9 34.62 45 0 0.00 MIS18A 54069 genome.wustl.edu 37 21 33642063 33642063 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33642063 33642063 A C SNP MIS18A ENST00000290130 human ensembl 70_37 -1 known silent c.576 p.L192 1.000 NULL NULL - no_errors MIS18A HGNC ENSG00000159055 21 17 44.74 60 0 0.00 MIS18A 54069 genome.wustl.edu 37 21 33647158 33647158 + Silent SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 33647158 33647158 A C SNP MIS18A ENST00000290130 human ensembl 70_37 -1 known silent c.384 p.R128 0.494 NULL NULL - no_errors MIS18A HGNC ENSG00000159055 74 20 21.28 89 0 0.00 MIS18BP1 55320 genome.wustl.edu 37 14 45693269 45693269 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 45693269 45693269 C G SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known missense c.2521 p.E841Q 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 36 17 32.08 78 0 0.00 MIS18BP1 55320 genome.wustl.edu 37 14 45693467 45693467 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 45693467 45693467 C G SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known missense c.2323 p.E775Q 0.937 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 139 64 31.53 189 0 0.00 MIS18BP1 55320 genome.wustl.edu 37 14 45693777 45693777 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 45693777 45693777 G A SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known silent c.2013 p.S671 0.001 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 49 30 37.97 49 0 0.00 MIS18BP1 55320 genome.wustl.edu 37 14 45706865 45706865 + Frame_Shift_Del DEL T T - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 45706865 45706865 T - DEL MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known frame_shift_del c.1203 p.E402fs 0.999 pfam_SANTA pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 16 2 11.11 136 0 0.00 MIS18BP1 55320 genome.wustl.edu 37 14 45711964 45711964 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 45711964 45711964 C T SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known missense c.658 p.E220K 1.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 81 12 12.90 108 0 0.00 MIXL1 83881 genome.wustl.edu 37 1 226413277 226413277 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 226413277 226413277 C T SNP MIXL1 ENST00000366810 human ensembl 70_37 +1 known missense c.463 p.P155S 0.010 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MIXL1 HGNC ENSG00000185155 123 41 25.00 88 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129902237 129902237 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 129902237 129902237 T A SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.7867 p.T2623S 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 64 18 21.95 142 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129903272 129903272 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 129903272 129903272 C G SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.6832 p.D2278H 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 65 37 36.27 152 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129903836 129903836 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 129903836 129903836 C T SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.6268 p.E2090K 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 68 42 38.18 102 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129904435 129904435 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 129904435 129904435 A C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.5669 p.F1890C 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 80 50 38.46 173 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129905148 129905148 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 129905148 129905148 G C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known silent c.4956 p.L1652 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 89 44 32.84 122 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129906098 129906098 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 129906098 129906098 G C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.4006 p.P1336A 0.001 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 45 19 29.69 51 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129906554 129906554 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 129906554 129906554 C A SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known nonsense c.3550 p.E1184* 0.001 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 162 32 16.49 128 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129909845 129909845 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 129909845 129909845 A C SNP MKI67 ENST00000484853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MKI67 HGNC ENSG00000148773 10 12 52.17 45 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129913693 129913693 + Missense_Mutation SNP G G T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 10 129913693 129913693 G T SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.979 p.Q327K 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 41 77 65.25 122 1 0.81 MKI67 4288 genome.wustl.edu 37 10 129913804 129913804 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 129913804 129913804 G A SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.868 p.R290C 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 13 50 79.37 62 0 0.00 MKI67 4288 genome.wustl.edu 37 10 129917553 129917553 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 129917553 129917553 C T SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known silent c.318 p.R106 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 58 7 10.77 80 0 0.00 MKI67IP 84365 genome.wustl.edu 37 2 122493260 122493260 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 122493260 122493260 C A SNP MKI67IP ENST00000285814 human ensembl 70_37 -1 known nonsense c.172 p.E58* 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 28 31 51.67 23 0 0.00 MKL1 57591 genome.wustl.edu 37 22 40816412 40816412 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 40816412 40816412 C T SNP MKL1 ENST00000355630 human ensembl 70_37 -1 known missense c.1050 p.M350I 1.000 pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL1 HGNC ENSG00000196588 25 16 39.02 64 0 0.00 MKL1 57591 genome.wustl.edu 37 22 40915231 40915231 + RNA SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 40915231 40915231 G A SNP MKL1 ENST00000463769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MKL1 HGNC ENSG00000196588 7 10 58.82 10 0 0.00 MKL2 57496 genome.wustl.edu 37 16 14311069 14311069 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 14311069 14311069 C G SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.406 p.Q136E 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 25 15 37.50 30 0 0.00 MKL2 57496 genome.wustl.edu 37 16 14334201 14334201 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 14334201 14334201 G C SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.906 p.Q302H 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 11 4 26.67 26 0 0.00 MKL2 57496 genome.wustl.edu 37 16 14339465 14339465 + Missense_Mutation SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 16 14339465 14339465 C G SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.1127 p.S376C 0.002 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 35 18 33.96 91 0 0.00 MKL2 57496 genome.wustl.edu 37 16 14341226 14341226 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 14341226 14341226 G T SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.2076 p.Q692H 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 33 4 10.81 37 0 0.00 MKL2 57496 genome.wustl.edu 37 16 14346300 14346300 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 14346300 14346300 C - DEL MKL2 ENST00000341243 human ensembl 70_37 +1 known frame_shift_del c.2611 p.R873fs 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 16 20 55.56 31 0 0.00 MKLN1 4289 genome.wustl.edu 37 7 131082109 131082109 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 131082109 131082109 C T SNP MKLN1 ENST00000352689 human ensembl 70_37 +1 known nonsense c.484 p.Q162* 1.000 pfam_Muskelin_N pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 54 18 25.00 135 0 0.00 MKLN1 4289 genome.wustl.edu 37 7 131155656 131155656 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 131155656 131155656 G T SNP MKLN1 ENST00000352689 human ensembl 70_37 +1 known missense c.1984 p.D662Y 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 30 31 50.82 75 0 0.00 MKNK1 8569 genome.wustl.edu 37 1 47059806 47059806 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 47059806 47059806 G C SNP MKNK1 ENST00000371946 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK1 HGNC ENSG00000079277 81 21 20.59 128 0 0.00 MKNK2 2872 genome.wustl.edu 37 19 2041044 2041044 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2041044 2041044 G A SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known nonsense c.1105 p.Q369* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC ENSG00000099875 20 23 53.49 56 0 0.00 MKNK2 2872 genome.wustl.edu 37 19 2042432 2042432 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2042432 2042432 G C SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known silent c.744 p.L248 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC ENSG00000099875 28 30 51.72 49 0 0.00 MKNK2 2872 genome.wustl.edu 37 19 2042450 2042450 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2042450 2042450 G C SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known missense c.726 p.I242M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC ENSG00000099875 32 32 50.00 61 0 0.00 MKRN2 23609 genome.wustl.edu 37 3 12623441 12623441 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 12623441 12623441 G T SNP MKRN2 ENST00000170447 human ensembl 70_37 +1 known missense c.1103 p.G368V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 39 12 23.53 47 0 0.00 MKRN3 7681 genome.wustl.edu 37 15 23811385 23811385 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 23811385 23811385 G A SNP MKRN3 ENST00000314520 human ensembl 70_37 +1 known silent c.456 p.P152 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 31 16 34.04 29 0 0.00 MKRN3 7681 genome.wustl.edu 37 15 23811531 23811531 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 23811531 23811531 C T SNP MKRN3 ENST00000314520 human ensembl 70_37 +1 known missense c.602 p.A201V 0.053 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 47 16 25.40 60 0 0.00 MKS1 54903 genome.wustl.edu 37 17 56283702 56283702 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 56283702 56283702 C G SNP MKS1 ENST00000313863 human ensembl 70_37 -1 putative missense c.1313 p.G438A 1.000 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 24 12 33.33 40 0 0.00 MKS1 54903 genome.wustl.edu 37 17 56290443 56290443 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 56290443 56290443 G A SNP MKS1 ENST00000393119 human ensembl 70_37 -1 known missense c.758 p.T253M 0.487 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 137 16 10.46 95 0 0.00 MKS1 54903 genome.wustl.edu 37 17 56295993 56295993 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56295993 56295993 G T SNP MKS1 ENST00000393119 human ensembl 70_37 -1 known missense c.178 p.Q60K 0.109 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 48 17 26.15 53 0 0.00 MKX 283078 genome.wustl.edu 37 10 28023530 28023530 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 28023530 28023530 C T SNP MKX ENST00000375790 human ensembl 70_37 -1 known silent c.693 p.L231 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MKX HGNC ENSG00000150051 78 50 39.06 101 0 0.00 MLEC 9761 genome.wustl.edu 37 12 121125268 121125268 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 121125268 121125268 G C SNP MLEC ENST00000228506 human ensembl 70_37 +1 known missense c.169 p.E57Q 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 6 9 60.00 9 0 0.00 MLEC 9761 genome.wustl.edu 37 12 121131974 121131974 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 121131974 121131974 G A SNP MLEC ENST00000228506 human ensembl 70_37 +1 known missense c.316 p.E106K 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 35 15 30.00 54 0 0.00 MLF1 4291 genome.wustl.edu 37 3 158317887 158317887 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 158317887 158317887 C T SNP MLF1 ENST00000392822 human ensembl 70_37 +1 known missense c.586 p.H196Y 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 49 17 25.76 29 0 0.00 MLF1IP 79682 genome.wustl.edu 37 4 185622015 185622015 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 185622015 185622015 C A SNP MLF1IP ENST00000281453 human ensembl 70_37 -1 known missense c.945 p.K315N 1.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 20 4 16.67 38 0 0.00 MLH1 4292 genome.wustl.edu 37 3 37055922 37055922 + Splice_Site SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 37055922 37055922 G A SNP MLH1 ENST00000231790 human ensembl 70_37 +1 known splice_site c.678-1 e9-1 1.000 - - - no_errors MLH1 HGNC ENSG00000076242 12 8 40.00 32 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75485617 75485617 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 75485617 75485617 G A SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.4157 p.S1386L 0.003 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 8 28 77.78 55 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75505074 75505074 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 75505074 75505074 C T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.3612 p.M1204I 1.000 smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 40 5 11.11 42 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75513429 75513429 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75513429 75513429 G T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.2930 p.S977Y 0.000 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 19 8 29.63 38 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75515090 75515090 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 75515090 75515090 C T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known silent c.1269 p.Q423 0.974 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 47 15 23.81 39 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75515647 75515647 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75515647 75515647 A C SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.712 p.Y238D 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 21 3 12.50 42 0 0.00 MLH3 27030 genome.wustl.edu 37 14 75516266 75516266 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 75516266 75516266 G A SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known silent c.93 p.L31 0.997 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 10 6 37.50 41 0 0.00 MLIP 90523 genome.wustl.edu 37 6 54002030 54002030 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 54002030 54002030 C T SNP MLIP ENST00000502396 human ensembl 70_37 +1 putative missense c.1163 p.S388F 0.933 NULL NULL - no_errors MLIP HGNC ENSG00000146147 7 3 30.00 20 0 0.00 MLIP 90523 genome.wustl.edu 37 6 54034338 54034338 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 54034338 54034338 C T SNP MLIP ENST00000274897 human ensembl 70_37 +1 known missense c.907 p.L303F 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 14 6 30.00 9 0 0.00 MLIP 90523 genome.wustl.edu 37 6 54095557 54095557 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 54095557 54095557 C T SNP MLIP ENST00000274897 human ensembl 70_37 +1 known nonsense c.1159 p.Q387* 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 74 40 35.09 87 0 0.00 MLIP 90523 genome.wustl.edu 37 6 54095657 54095657 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 54095657 54095657 C G SNP MLIP ENST00000274897 human ensembl 70_37 +1 known missense c.1259 p.S420C 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 43 5 10.20 28 0 0.00 MLKL 197259 genome.wustl.edu 37 16 74709568 74709568 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 74709568 74709568 G A SNP MLKL ENST00000308807 human ensembl 70_37 -1 known missense c.1133 p.S378L 0.912 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 35 27 43.55 61 0 0.00 MLKL 197259 genome.wustl.edu 37 16 74729369 74729369 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 74729369 74729369 A G SNP MLKL ENST00000308807 human ensembl 70_37 -1 known missense c.287 p.I96T 0.101 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 62 31 33.33 121 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118342900 118342900 + Silent SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 118342900 118342900 A G SNP MLL ENST00000389506 human ensembl 70_37 +1 known silent c.1026 p.K342 0.912 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 44 28 38.89 133 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118352537 118352537 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 118352537 118352537 G T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.3742 p.A1248S 0.942 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 24 4 14.29 35 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118362470 118362470 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 118362470 118362470 G A SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.4822 p.E1608K 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 6 47 88.68 52 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118370615 118370615 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118370615 118370615 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.6136 p.P2046S 1.000 pfam_FYrich_N,smart_FYrich_N,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 9 9 50.00 24 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118371806 118371806 + Missense_Mutation SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 11 118371806 118371806 G A SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.6254 p.S2085N 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 11 3 21.43 21 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118375513 118375513 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 118375513 118375513 C G SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.8897 p.S2966C 0.996 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 23 6 20.69 26 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118375583 118375583 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 118375583 118375583 G A SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.8967 p.M2989I 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 15 10 40.00 20 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118376214 118376214 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 118376214 118376214 G C SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.9598 p.E3200Q 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 16 18 52.94 43 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118376933 118376933 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 118376933 118376933 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known silent c.10317 p.A3439 0.029 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 19 9 32.14 40 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118377304 118377304 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 118377304 118377304 G T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.10688 p.S3563I 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 26 15 36.59 31 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118390460 118390461 + Frame_Shift_Ins INS - - C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 118390460 118390461 - C INS MLL ENST00000389506 human ensembl 70_37 +1 known frame_shift_ins c.11265_11266 p.N3758fs 0.991:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 38 22 36.67 33 0 0.00 KMT2A 4297 genome.wustl.edu 37 11 118390715 118390715 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 118390715 118390715 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.11356 p.R3786C 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 12 9 42.86 31 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49416091 49416091 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49416091 49416091 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.16384 p.D5462H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 41 10 19.61 44 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49418679 49418679 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49418679 49418679 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15835 p.D5279Y 0.998 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 16 11 40.74 24 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49420007 49420007 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 49420007 49420007 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.15742 p.Q5248* 1.000 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 32 27 45.76 63 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49420492 49420492 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 49420492 49420492 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15257 p.R5086Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 44 20 31.25 100 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49420619 49420619 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49420619 49420619 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15130 p.D5044N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 18 13 41.94 31 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49420832 49420832 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49420832 49420832 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.14917 p.D4973H 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 35 23 39.66 63 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49420844 49420844 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49420844 49420844 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.14905 p.E4969* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 56 8 12.50 69 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49421925 49421925 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49421925 49421925 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known splice_site c.14383-1 e46-1 1.000 - - - no_errors MLL2 HGNC ENSG00000167548 24 14 36.84 34 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49424551 49424551 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49424551 49424551 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.13672 p.E4558Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 54 21 28.00 114 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49425059 49425059 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 49425059 49425059 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.13429 p.G4477R 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 14 5 26.32 18 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49425449 49425449 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 49425449 49425449 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.13039 p.Q4347* 0.992 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 23 6 20.69 32 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49425638 49425638 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 49425638 49425638 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12850 p.Q4284* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 35 7 16.67 37 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49425644 49425644 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49425644 49425644 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12844 p.R4282* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 16 19 54.29 39 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49425644 49425644 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49425644 49425644 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12844 p.R4282* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 33 14 29.79 30 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49426469 49426469 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 49426469 49426469 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12019 p.Q4007* 0.954 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 5 20 80.00 54 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49426526 49426526 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49426526 49426526 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.11962 p.Q3988* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 45 31 40.79 80 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49426773 49426773 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 49426773 49426773 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.11715 p.Q3905 0.723 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 29 23 44.23 37 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49427595 49427595 + Silent SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 49427595 49427595 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10893 p.L3631 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 16 4 20.00 15 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49427852 49427852 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 49427852 49427852 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.10738 p.Q3580* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 24 12 33.33 55 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49428024 49428024 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 49428024 49428024 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10566 p.Q3522 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 100 51 33.77 196 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49430960 49430960 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 49430960 49430960 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10179 p.P3393 0.555 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 36 26 41.94 68 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49431395 49431395 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 49431395 49431395 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.9744 p.L3248 0.994 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 25 12 32.43 27 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49431567 49431567 + Frame_Shift_Del DEL G G - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 49431567 49431567 G - DEL MLL2 ENST00000301067 human ensembl 70_37 -1 known frame_shift_del c.9572 p.P3191fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 15 2 11.76 52 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49432029 49432030 + Frame_Shift_Ins INS - - G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 12 49432029 49432030 - G INS MLL2 ENST00000301067 human ensembl 70_37 -1 known frame_shift_ins c.9110_9109 p.H3037fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 25 19 43.18 27 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49433090 49433090 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 49433090 49433090 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.8281 p.L2761 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 8 15 65.22 26 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434256 49434256 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49434256 49434256 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7297 p.E2433* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 45 8 15.09 55 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49434415 49434415 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7138 p.Q2380* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 18 11 36.67 34 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49434415 49434415 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7138 p.Q2380* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 23 15 39.47 35 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434544 49434544 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49434544 49434544 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.7009 p.Q2337E 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 16 5 23.81 41 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434580 49434580 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 49434580 49434580 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.6973 p.D2325N 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 33 15 31.25 39 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49434618 49434618 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49434618 49434618 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.6935 p.S2312* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 14 8 36.36 73 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49435470 49435470 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49435470 49435470 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.6202 p.R2068W 1.000 superfamily_HMG_superfamily,smart_HMG_superfamily pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 35 10 22.22 84 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49436343 49436343 + Splice_Site SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 49436343 49436343 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known splice_site c.5867+1 e27+1 1.000 - - - no_errors MLL2 HGNC ENSG00000167548 35 6 14.63 36 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49437523 49437523 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49437523 49437523 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.5362 p.A1788T 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 23 5 17.86 29 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49438040 49438040 + Nonsense_Mutation SNP T T A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 49438040 49438040 T A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.5131 p.K1711* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 22 10 31.25 35 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49438611 49438611 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49438611 49438611 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4879 p.E1627K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 27 9 25.00 88 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49439723 49439723 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 49439723 49439723 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4721 p.P1574L 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 50 8 13.79 52 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49440150 49440150 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49440150 49440150 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.4476 p.Q1492 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 23 5 17.86 36 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49441780 49441780 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 49441780 49441780 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.4204 p.Q1402* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 51 8 13.56 57 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49442510 49442510 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442510 49442510 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4063 p.E1355K 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 24 6 19.35 35 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49442540 49442540 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442540 49442540 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4033 p.D1345H 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 24 14 36.84 48 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49442546 49442546 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442546 49442546 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4027 p.D1343N 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 33 6 15.38 53 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49444286 49444286 + Nonsense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 49444286 49444286 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.3085 p.Q1029* 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 18 19 51.35 24 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49447074 49447074 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 49447074 49447074 A C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.870 p.V290 0.896 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 21 14 40.00 34 0 0.00 KMT2D 8085 genome.wustl.edu 37 12 49447821 49447821 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 12 49447821 49447821 G T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.613 p.L205I 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 26 4 13.33 40 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151836855 151836855 + Nonsense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 151836855 151836855 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.14536 p.R4846* 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 31 17 35.42 50 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151845151 151845151 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 151845151 151845151 C A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.14032 p.E4678* 1.000 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 19 43 69.35 79 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151848547 151848548 + Frame_Shift_Ins INS - - T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 151848547 151848548 - T INS MLL3 ENST00000355193 human ensembl 70_37 -1 known frame_shift_ins c.12817_12816 p.D4272fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 52 8 13.33 52 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151848594 151848595 + Frame_Shift_Ins INS - - GA TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 151848594 151848595 - GA INS MLL3 ENST00000355193 human ensembl 70_37 -1 known frame_shift_ins c.12770_12769 p.H4257fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 29 13 30.95 40 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151849976 151849976 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 151849976 151849976 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.12511 p.E4171K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 29 31 51.67 77 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151856085 151856085 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 151856085 151856085 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.11533 p.E3845K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 109 24 18.05 188 1 0.53 KMT2C 58508 genome.wustl.edu 37 7 151856085 151856085 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 151856085 151856085 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.11533 p.E3845K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 35 14 28.57 34 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151859593 151859593 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151859593 151859593 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.11069 p.S3690* 0.002 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 290 92 23.90 485 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151860641 151860641 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151860641 151860641 G T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.10021 p.P3341T 0.993 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 89 26 22.61 139 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151860728 151860728 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 151860728 151860728 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.9934 p.Q3312* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 37 6 13.95 55 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151860765 151860765 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 151860765 151860765 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.9897 p.M3299I 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 36 34 48.57 63 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151864248 151864248 + Nonsense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 151864248 151864248 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.9733 p.Q3245* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 30 27 47.37 58 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151873585 151873585 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151873585 151873585 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.8953 p.Q2985* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 52 7 11.67 78 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151873963 151873963 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 151873963 151873963 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.8575 p.H2859Y 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 21 14 40.00 48 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151874923 151874923 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 151874923 151874923 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7615 p.Q2539* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 10 44 81.48 84 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151876977 151876977 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 151876977 151876977 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7384 p.Q2462* 0.804 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 42 19 31.15 47 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151877100 151877100 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 151877100 151877100 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7261 p.Q2421* 0.530 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 38 30 44.12 116 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151877103 151877103 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 151877103 151877103 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.7258 p.L2420V 0.802 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 15 27 64.29 126 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151877154 151877154 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 151877154 151877154 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7207 p.R2403* 0.967 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 22 54 71.05 92 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151877932 151877932 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 151877932 151877932 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.7013 p.S2338L 0.717 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 35 15 30.00 31 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151878287 151878287 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 151878287 151878287 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6658 p.Q2220* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 88 43 32.82 73 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151878287 151878287 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151878287 151878287 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6658 p.Q2220* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 91 61 40.13 178 1 0.56 KMT2C 58508 genome.wustl.edu 37 7 151878464 151878464 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151878464 151878464 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6481 p.Q2161* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 19 13 40.62 44 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151878871 151878871 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 151878871 151878871 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6074 p.S2025* 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 55 26 32.10 74 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151879322 151879322 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 151879322 151879322 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.5623 p.Q1875* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 18 18 50.00 43 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151884356 151884356 + Nonsense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 151884356 151884356 C A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.4999 p.E1667* 1.000 superfamily_HMG_superfamily,smart_HMG_superfamily pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 48 16 24.24 63 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151902229 151902229 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 151902229 151902229 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3923 p.S1308* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 76 24 24.00 79 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151902278 151902278 + Nonsense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 151902278 151902278 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3874 p.R1292* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 82 29 26.13 100 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151917668 151917668 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 151917668 151917668 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3652 p.Q1218* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 133 48 26.52 152 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151917764 151917764 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 151917764 151917764 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3556 p.Q1186* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 36 65 64.36 106 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151919142 151919142 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151919142 151919142 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3443 p.S1148* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 23 14 37.84 34 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151919142 151919142 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151919142 151919142 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3443 p.S1148* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 94 23 19.66 121 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151921207 151921207 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 151921207 151921207 C G SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.3216 p.Q1072H 0.990 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 85 17 16.67 90 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151945201 151945201 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 151945201 151945201 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.2318 p.S773L 0.011 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 91 40 30.53 142 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151945301 151945301 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 151945301 151945301 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.2218 p.E740K 0.630 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 45 24 34.78 48 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151947007 151947007 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151947007 151947007 C G SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.1767 p.K589N 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 36 29 44.62 75 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 151962134 151962134 + Nonsense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 7 151962134 151962134 G T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.1173 p.C391* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 114 17 12.98 153 1 0.65 KMT2C 58508 genome.wustl.edu 37 7 151970952 151970952 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 151970952 151970952 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.850 p.R284* 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 85 11 11.46 112 0 0.00 KMT2C 58508 genome.wustl.edu 37 7 152009013 152009013 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 152009013 152009013 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known silent c.609 p.Q203 0.981 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 20 11 35.48 50 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36211933 36211933 + Missense_Mutation SNP G G T TCGA-C5-A2LV-01A-11D-A18J-09 TCGA-C5-A2LV-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3269608c-5dd7-452a-976a-31ac971aac2f 28fa35ae-f144-4ef0-918e-fe72471c8101 19 36211933 36211933 G T SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.1684 p.V562F 0.018 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 26 3 10.34 20 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36212558 36212558 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 36212558 36212558 C T SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.2309 p.P770L 0.005 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 79 12 13.19 71 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36217210 36217210 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 36217210 36217210 G C SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.3959 p.G1320A 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 13 12 48.00 32 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36220184 36220184 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36220184 36220184 G A SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.4904 p.R1635Q 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 36 24 40.00 66 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36223347 36223347 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 36223347 36223347 C T SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.5897 p.S1966F 0.993 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 50 20 28.57 81 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36227608 36227608 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 36227608 36227608 G A SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.7177 p.E2393K 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 46 11 19.30 55 0 0.00 KMT2B 9757 genome.wustl.edu 37 19 36229363 36229363 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36229363 36229363 G C SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.8053 p.E2685Q 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename ENSG00000105663 25 19 43.18 36 0 0.00 KMT2E 55904 genome.wustl.edu 37 7 104752965 104752965 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 104752965 104752965 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.4762 p.Q1588E 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 7 18 72.00 37 0 0.00 KMT2E 55904 genome.wustl.edu 37 7 104753145 104753145 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 104753145 104753145 C T SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known nonsense c.4942 p.Q1648* 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 73 23 23.96 106 0 0.00 KMT2E 55904 genome.wustl.edu 37 7 104753289 104753289 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 104753289 104753289 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5086 p.P1696A 0.901 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 6 11 64.71 18 0 0.00 KMT2E 55904 genome.wustl.edu 37 7 104753433 104753433 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 104753433 104753433 C T SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5230 p.H1744Y 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 78 38 32.76 86 0 0.00 KMT2E 55904 genome.wustl.edu 37 7 104753436 104753436 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 104753436 104753436 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5233 p.Q1745E 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 57 24 29.63 68 0 0.00 MLLT10 8028 genome.wustl.edu 37 10 21959589 21959589 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 10 21959589 21959589 G C SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known missense c.1007 p.R336T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 30 6 16.67 40 0 0.00 MLLT10 8028 genome.wustl.edu 37 10 21962686 21962686 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 21962686 21962686 C T SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known nonsense c.1459 p.Q487* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 24 5 17.24 30 0 0.00 MLLT10 8028 genome.wustl.edu 37 10 22021945 22021945 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22021945 22021945 C T SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known missense c.2336 p.S779L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 68 28 28.87 131 0 0.00 MLLT11 10962 genome.wustl.edu 37 1 151039932 151039932 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 151039932 151039932 C T SNP MLLT11 ENST00000368921 human ensembl 70_37 +1 known missense c.232 p.P78S 1.000 NULL NULL - no_errors MLLT11 HGNC ENSG00000213190 21 25 54.35 33 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20346377 20346378 + RNA INS - - A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 20346377 20346378 - A INS MLLT3 ENST00000469261 human ensembl 70_37 -1 known rna NULL NULL 1.000:0.966 - - - no_errors MLLT3 HGNC ENSG00000171843 23 5 17.86 26 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20346393 20346393 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 20346393 20346393 C A SNP MLLT3 ENST00000469261 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors MLLT3 HGNC ENSG00000171843 66 14 17.28 33 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20365705 20365705 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 20365705 20365705 G C SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known missense c.1163 p.S388C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 60 23 27.71 71 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20414065 20414065 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 20414065 20414065 G C SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known nonsense c.779 p.S260* 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 390 118 23.23 512 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 40 5 11.11 50 0 0.00 MLLT3 4300 genome.wustl.edu 37 9 20622291 20622291 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 20622291 20622291 G A SNP MLLT3 ENST00000475957 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 45 25 35.71 99 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168272989 168272989 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168272989 168272989 G A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known silent c.510 p.K170 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 26 23 46.94 42 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168273011 168273011 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 168273011 168273011 C T SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known nonsense c.532 p.R178* 0.796 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 21 6 22.22 67 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168316019 168316019 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 168316019 168316019 C A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.2450 p.A817E 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 24 4 14.29 37 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168349156 168349156 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 168349156 168349156 C G SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.3808 p.Q1270E 0.998 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 44 19 30.16 33 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168351979 168351979 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 168351979 168351979 G A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known silent c.3924 p.Q1308 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 38 7 15.56 78 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168352292 168352292 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 168352292 168352292 G C SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.4237 p.E1413Q 0.979 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 16 30 65.22 36 0 0.00 MLLT4 4301 genome.wustl.edu 37 6 168370499 168370499 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 168370499 168370499 G A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.5359 p.E1787K 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 19 3 13.64 41 0 0.00 MLLT4-AS1 653483 genome.wustl.edu 37 6 168227370 168227370 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 168227370 168227370 C T SNP MLLT4-AS1 ENST00000359760 human ensembl 70_37 -1 known rna NULL NULL 0.949 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 20 9 31.03 35 0 0.00 MLLT4-AS1 653483 genome.wustl.edu 37 6 168227430 168227430 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 168227430 168227430 C G SNP MLLT4-AS1 ENST00000357510 human ensembl 70_37 -1 known rna NULL NULL 0.485 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 13 5 27.78 17 0 0.00 MLLT6 4302 genome.wustl.edu 37 17 36863784 36863784 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 36863784 36863784 G C SNP MLLT6 ENST00000325718 human ensembl 70_37 +1 known missense c.235 p.D79H 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 16 14 46.67 24 0 0.00 MLLT6 4302 genome.wustl.edu 37 17 36883387 36883387 + RNA DEL T T - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 36883387 36883387 T - DEL MLLT6 ENST00000582830 human ensembl 70_37 +1 putative rna NULL NULL 0.276 - - - no_errors MLLT6 HGNC ENSG00000108292 34 4 10.53 47 0 0.00 MLLT6 4302 genome.wustl.edu 37 17 36883387 36883387 + RNA DEL T T - TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 36883387 36883387 T - DEL MLLT6 ENST00000582830 human ensembl 70_37 +1 putative rna NULL NULL 0.276 - - - no_errors MLLT6 HGNC ENSG00000108292 26 7 21.21 21 0 0.00 MLNR 2862 genome.wustl.edu 37 13 49794659 49794659 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 49794659 49794659 G T SNP MLNR ENST00000218721 human ensembl 70_37 +1 known silent c.186 p.L62 0.963 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC ENSG00000102539 25 4 13.79 10 0 0.00 MLNR 2862 genome.wustl.edu 37 13 49795318 49795318 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 13 49795318 49795318 G A SNP MLNR ENST00000218721 human ensembl 70_37 +1 known missense c.845 p.R282Q 0.939 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC ENSG00000102539 4 13 76.47 27 0 0.00 MLNR 2862 genome.wustl.edu 37 13 49795333 49795333 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49795333 49795333 C T SNP MLNR ENST00000218721 human ensembl 70_37 +1 known missense c.860 p.S287L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC ENSG00000102539 16 8 33.33 47 0 0.00 MLNR 2862 genome.wustl.edu 37 13 49796301 49796301 + Missense_Mutation SNP C C A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 13 49796301 49796301 C A SNP MLNR ENST00000218721 human ensembl 70_37 +1 known missense c.1027 p.L343I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC ENSG00000102539 149 98 39.52 311 0 0.00 MLPH 79083 genome.wustl.edu 37 2 238419253 238419253 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 238419253 238419253 G C SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.147 p.K49N 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 33 5 13.16 54 0 0.00 MLPH 79083 genome.wustl.edu 37 2 238419644 238419644 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 238419644 238419644 C T SNP MLPH ENST00000264605 human ensembl 70_37 +1 known silent c.345 p.I115 0.002 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 355 92 20.54 425 0 0.00 MLPH 79083 genome.wustl.edu 37 2 238427252 238427252 + Silent SNP C C A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 238427252 238427252 C A SNP MLPH ENST00000264605 human ensembl 70_37 +1 known silent c.516 p.G172 0.001 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 22 16 42.11 51 0 0.00 MLPH 79083 genome.wustl.edu 37 2 238434401 238434401 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 238434401 238434401 C T SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.833 p.P278L 0.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 8 14 63.64 40 0 0.00 MLPH 79083 genome.wustl.edu 37 2 238436082 238436082 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 238436082 238436082 G C SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.943 p.D315H 0.464 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 10 36 78.26 41 0 0.00 MLST8 64223 genome.wustl.edu 37 16 2256404 2256404 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 16 2256404 2256404 G T SNP MLST8 ENST00000397124 human ensembl 70_37 +1 known missense c.175 p.A59S 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 32 4 11.11 34 0 0.00 MLX 6945 genome.wustl.edu 37 17 40721303 40721303 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 40721303 40721303 G A SNP MLX ENST00000246912 human ensembl 70_37 +1 known missense c.520 p.A174T 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLX HGNC ENSG00000108788 27 8 22.86 34 0 0.00 MLXIP 22877 genome.wustl.edu 37 12 122618098 122618098 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122618098 122618098 C T SNP MLXIP ENST00000319080 human ensembl 70_37 +1 known silent c.1296 p.F432 0.888 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIP HGNC ENSG00000175727 31 18 36.73 64 0 0.00 MLXIP 22877 genome.wustl.edu 37 12 122618282 122618282 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 122618282 122618282 C T SNP MLXIP ENST00000319080 human ensembl 70_37 +1 known missense c.1480 p.H494Y 0.954 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIP HGNC ENSG00000175727 73 31 29.81 106 0 0.00 MLXIPL 51085 genome.wustl.edu 37 7 73008611 73008611 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 73008611 73008611 G C SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known silent c.2433 p.L811 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC ENSG00000009950 24 12 33.33 40 0 0.00 MLXIPL 51085 genome.wustl.edu 37 7 73010041 73010041 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 73010041 73010041 G A SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known missense c.2236 p.R746C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC ENSG00000009950 22 3 12.00 34 0 0.00 MLXIPL 51085 genome.wustl.edu 37 7 73010041 73010041 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 73010041 73010041 G A SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known missense c.2236 p.R746C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC ENSG00000009950 28 13 31.71 25 0 0.00 MLXIPL 51085 genome.wustl.edu 37 7 73013893 73013893 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 73013893 73013893 G A SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known missense c.1034 p.S345L 0.001 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC ENSG00000009950 18 8 30.77 44 0 0.00 MMAA 166785 genome.wustl.edu 37 4 146560411 146560411 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146560411 146560411 T C SNP MMAA ENST00000281317 human ensembl 70_37 +1 known silent c.120 p.C40 0.004 NULL pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 9 6 40.00 54 0 0.00 MMAA 166785 genome.wustl.edu 37 4 146567305 146567305 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 146567305 146567305 G A SNP MMAA ENST00000281317 human ensembl 70_37 +1 known missense c.730 p.V244I 1.000 pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 121 34 21.94 105 0 0.00 MMAB 326625 genome.wustl.edu 37 12 110006640 110006640 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110006640 110006640 C G SNP MMAB ENST00000545712 human ensembl 70_37 -1 known missense c.225 p.R75S 1.000 pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N - no_errors MMAB HGNC ENSG00000139428 110 31 21.99 128 0 0.00 MMD2 221938 genome.wustl.edu 37 7 4959852 4959852 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 4959852 4959852 G A SNP MMD2 ENST00000404774 human ensembl 70_37 -1 known silent c.240 p.F80 0.966 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 12 12 50.00 47 0 0.00 MMD2 221938 genome.wustl.edu 37 7 4959870 4959870 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 4959870 4959870 G T SNP MMD2 ENST00000404774 human ensembl 70_37 -1 known silent c.222 p.L74 0.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 24 25 51.02 42 0 0.00 MME 4311 genome.wustl.edu 37 3 154859901 154859901 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 154859901 154859901 C A SNP MME ENST00000360490 human ensembl 70_37 +1 known missense c.1079 p.T360N 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 46 15 24.59 77 0 0.00 MME 4311 genome.wustl.edu 37 3 154866381 154866381 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 154866381 154866381 A C SNP MME ENST00000360490 human ensembl 70_37 +1 known missense c.1540 p.N514H 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 15 11 42.31 48 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2524328 2524328 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2524328 2524328 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.1945 p.E649K 0.020 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 87 30 25.64 144 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2526265 2526265 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 2526265 2526265 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.1652 p.S551N 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 75 10 11.76 68 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2528008 2528008 + Missense_Mutation SNP T T C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 2528008 2528008 T C SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.1393 p.K465E 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 27 5 15.62 33 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2537001 2537001 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 2537001 2537001 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.812 p.R271Q 0.946 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 71 52 42.28 85 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2538416 2538416 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 2538416 2538416 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.628 p.V210I 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 18 17 48.57 31 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2538416 2538416 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 2538416 2538416 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.628 p.V210I 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 36 19 34.55 103 0 0.00 MMEL1 79258 genome.wustl.edu 37 1 2542727 2542727 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 2542727 2542727 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known silent c.285 p.V95 0.995 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 14 4 22.22 25 0 0.00 MMGT1 93380 genome.wustl.edu 37 X 135047196 135047196 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 135047196 135047196 G C SNP MMGT1 ENST00000433339 human ensembl 70_37 -1 known nonsense c.578 p.S193* 0.997 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 254 74 22.56 325 0 0.00 MMGT1 93380 genome.wustl.edu 37 X 135056076 135056076 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 135056076 135056076 C T SNP MMGT1 ENST00000433339 human ensembl 70_37 -1 known missense c.31 p.E11K 0.000 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 39 6 13.33 51 0 0.00 MMP1 4312 genome.wustl.edu 37 11 102663348 102663348 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 102663348 102663348 G A SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.1021 p.R341W 0.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC ENSG00000196611 63 28 30.77 106 0 0.00 MMP1 4312 genome.wustl.edu 37 11 102667487 102667487 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102667487 102667487 C G SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.533 p.G178A 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC ENSG00000196611 36 42 53.85 71 0 0.00 MMP1 4312 genome.wustl.edu 37 11 102667841 102667841 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 102667841 102667841 C G SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.403 p.E135Q 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC ENSG00000196611 50 6 10.71 53 0 0.00 MMP10 4319 genome.wustl.edu 37 11 102645984 102645984 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 102645984 102645984 G C SNP MMP10 ENST00000279441 human ensembl 70_37 -1 known missense c.1001 p.S334C 0.099 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP10 HGNC ENSG00000166670 31 15 32.61 46 0 0.00 MMP10 4319 genome.wustl.edu 37 11 102649479 102649479 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102649479 102649479 T C SNP MMP10 ENST00000279441 human ensembl 70_37 -1 known silent c.498 p.E166 0.984 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP10 HGNC ENSG00000166670 26 6 18.75 40 0 0.00 MMP11 4320 genome.wustl.edu 37 22 24121514 24121514 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 24121514 24121514 C T SNP MMP11 ENST00000215743 human ensembl 70_37 +1 known silent c.249 p.P83 0.961 pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC ENSG00000099953 36 9 20.00 30 0 0.00 MMP11 4320 genome.wustl.edu 37 22 24124460 24124460 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 24124460 24124460 G A SNP MMP11 ENST00000215743 human ensembl 70_37 +1 known missense c.1123 p.A375T 0.028 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC ENSG00000099953 72 36 33.33 136 0 0.00 MMP12 4321 genome.wustl.edu 37 11 102733875 102733875 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 102733875 102733875 G T SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors MMP12 HGNC ENSG00000110347 19 3 13.64 43 0 0.00 MMP12 4321 genome.wustl.edu 37 11 102738047 102738047 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 102738047 102738047 C G SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MMP12 HGNC ENSG00000110347 60 33 35.48 72 0 0.00 MMP12 4321 genome.wustl.edu 37 11 102738638 102738638 + Splice_Site SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 102738638 102738638 C A SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors MMP12 HGNC ENSG00000110347 36 4 10.00 41 0 0.00 MMP12 4321 genome.wustl.edu 37 11 102738746 102738746 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 102738746 102738746 C T SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 53 15 22.06 60 0 0.00 MMP12 4321 genome.wustl.edu 37 11 102742413 102742413 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 102742413 102742413 C A SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors MMP12 HGNC ENSG00000110347 6 7 53.85 20 0 0.00 MMP13 4322 genome.wustl.edu 37 11 102819836 102819836 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102819836 102819836 C T SNP MMP13 ENST00000340273 human ensembl 70_37 -1 novel silent c.969 p.T323 0.997 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC ENSG00000137745 11 13 54.17 29 0 0.00 MMP14 4323 genome.wustl.edu 37 14 23312944 23312944 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 23312944 23312944 G A SNP MMP14 ENST00000311852 human ensembl 70_37 +1 known silent c.876 p.K292 0.997 pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP14 HGNC ENSG00000157227 56 45 44.55 46 0 0.00 MMP15 4324 genome.wustl.edu 37 16 58072243 58072243 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 58072243 58072243 C T SNP MMP15 ENST00000219271 human ensembl 70_37 +1 known missense c.385 p.R129W 0.999 pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC ENSG00000102996 65 57 46.72 115 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89053782 89053782 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 89053782 89053782 G A SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known silent c.1731 p.L577 1.000 pfam_Pept_M10A_metallopeptidase_C pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 40 16 28.57 76 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89053808 89053808 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 8 89053808 89053808 T G SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.1705 p.I569L 1.000 pfam_Pept_M10A_metallopeptidase_C pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 31 10 24.39 39 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89068395 89068395 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 89068395 89068395 C T SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known nonsense c.1334 p.W445* 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 130 31 19.25 177 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89068415 89068415 + Silent SNP A A C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 89068415 89068415 A C SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known silent c.1314 p.G438 0.995 superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 136 18 11.54 65 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89180138 89180138 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 89180138 89180138 C G SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.469 p.D157H 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 26 17 39.53 86 0 0.00 MMP16 4325 genome.wustl.edu 37 8 89180150 89180150 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 89180150 89180150 G A SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.457 p.R153C 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 16 23 58.97 78 0 0.00 MMP19 4327 genome.wustl.edu 37 12 56230828 56230828 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56230828 56230828 C G SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.1519 p.E507Q 0.015 NULL pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC ENSG00000123342 19 15 44.12 44 0 0.00 MMP19 4327 genome.wustl.edu 37 12 56231076 56231076 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56231076 56231076 C G SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.1271 p.G424A 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC ENSG00000123342 29 27 48.21 61 0 0.00 MMP19 4327 genome.wustl.edu 37 12 56233334 56233334 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56233334 56233334 G C SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.712 p.R238G 0.825 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC ENSG00000123342 36 21 36.84 29 0 0.00 MMP19 4327 genome.wustl.edu 37 12 56234954 56234954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56234954 56234954 C T SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.240 p.M80I 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC ENSG00000123342 20 4 16.67 36 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55516942 55516942 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 55516942 55516942 A G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.275 p.N92S 0.868 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 44 6 12.00 56 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55523672 55523672 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 55523672 55523672 G C SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1116 p.K372N 0.970 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 5 22 81.48 55 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55525827 55525827 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 55525827 55525827 G C SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1295 p.R432P 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 22 28 56.00 62 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55527078 55527078 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 55527078 55527078 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1345 p.P449A 0.367 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 35 12 25.00 44 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55536739 55536739 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 55536739 55536739 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1818 p.I606M 0.966 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 23 6 20.69 16 0 0.00 MMP2 4313 genome.wustl.edu 37 16 55539267 55539267 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 55539267 55539267 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1896 p.F632L 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 61 29 32.22 79 0 0.00 MMP20 9313 genome.wustl.edu 37 11 102447981 102447981 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 102447981 102447981 C A SNP MMP20 ENST00000542305 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MMP20 HGNC ENSG00000137674 25 3 10.71 50 0 0.00 MMP20 9313 genome.wustl.edu 37 11 102464305 102464305 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 102464305 102464305 C G SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known missense c.1112 p.R371T 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC ENSG00000137674 27 11 28.95 37 0 0.00 MMP20 9313 genome.wustl.edu 37 11 102477320 102477320 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 102477320 102477320 G C SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.005 superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC ENSG00000137674 64 26 28.89 60 0 0.00 MMP20 9313 genome.wustl.edu 37 11 102479695 102479695 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 102479695 102479695 C A SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known missense c.784 p.D262Y 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC ENSG00000137674 38 5 11.63 42 0 0.00 MMP24 10893 genome.wustl.edu 37 20 33855066 33855066 + Silent SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 20 33855066 33855066 G A SNP MMP24 ENST00000246186 human ensembl 70_37 +1 known silent c.1038 p.R346 1.000 pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC ENSG00000125966 100 20 16.53 96 0 0.00 MMP24 10893 genome.wustl.edu 37 20 33862108 33862108 + Frame_Shift_Del DEL G G - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 33862108 33862108 G - DEL MMP24 ENST00000246186 human ensembl 70_37 +1 known frame_shift_del c.1634 p.W545fs 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC ENSG00000125966 52 38 42.22 58 0 0.00 MMP25 64386 genome.wustl.edu 37 16 3105840 3105840 + RNA SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 16 3105840 3105840 C T SNP MMP25 ENST00000570755 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MMP25 HGNC ENSG00000008516 58 7 10.77 68 0 0.00 MMP26 56547 genome.wustl.edu 37 11 5009511 5009511 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 5009511 5009511 G T SNP MMP26 ENST00000300762 human ensembl 70_37 +1 known missense c.70 p.A24S 0.000 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP26 HGNC ENSG00000167346 22 24 52.17 72 0 0.00 MMP26 56547 genome.wustl.edu 37 11 5012686 5012686 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5012686 5012686 C G SNP MMP26 ENST00000300762 human ensembl 70_37 +1 known silent c.555 p.V185 0.209 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP26 HGNC ENSG00000167346 71 49 40.83 118 0 0.00 MMP26 56547 genome.wustl.edu 37 11 5013305 5013305 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5013305 5013305 G C SNP MMP26 ENST00000300762 human ensembl 70_37 +1 known missense c.707 p.R236T 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP26 HGNC ENSG00000167346 57 16 21.92 97 0 0.00 MMP27 64066 genome.wustl.edu 37 11 102563730 102563730 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 102563730 102563730 C T SNP MMP27 ENST00000260229 human ensembl 70_37 -1 known silent c.1236 p.Q412 0.003 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP27 HGNC ENSG00000137675 104 15 12.61 45 0 0.00 MMP27 64066 genome.wustl.edu 37 11 102567510 102567510 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102567510 102567510 G C SNP MMP27 ENST00000260229 human ensembl 70_37 -1 known missense c.676 p.H226D 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP27 HGNC ENSG00000137675 26 15 36.59 49 0 0.00 MMP28 79148 genome.wustl.edu 37 17 34100312 34100312 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 34100312 34100312 G A SNP MMP28 ENST00000587639 human ensembl 70_37 -1 known missense c.476 p.S159F 1.000 NULL pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 53 23 30.26 73 0 0.00 MMP3 4314 genome.wustl.edu 37 11 102709885 102709885 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 102709885 102709885 G A SNP MMP3 ENST00000299855 human ensembl 70_37 -1 known missense c.1025 p.A342V 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP3 HGNC ENSG00000149968 45 5 10.00 122 0 0.00 MMP7 4316 genome.wustl.edu 37 11 102398628 102398628 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102398628 102398628 G T SNP MMP7 ENST00000260227 human ensembl 70_37 -1 known missense c.195 p.F65L 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP7 HGNC ENSG00000137673 37 34 47.89 100 0 0.00 MMP8 4317 genome.wustl.edu 37 11 102589172 102589172 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 102589172 102589172 C T SNP MMP8 ENST00000236826 human ensembl 70_37 -1 known missense c.757 p.D253N 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP8 HGNC ENSG00000118113 15 7 31.82 24 0 0.00 MMP9 4318 genome.wustl.edu 37 20 44640260 44640260 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44640260 44640260 C A SNP MMP9 ENST00000372330 human ensembl 70_37 +1 known missense c.871 p.P291T 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 38 17 30.91 41 0 0.00 MMP9 4318 genome.wustl.edu 37 20 44640373 44640373 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44640373 44640373 C T SNP MMP9 ENST00000372330 human ensembl 70_37 +1 known silent c.984 p.F328 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 87 17 16.35 78 0 0.00 MMRN1 22915 genome.wustl.edu 37 4 90816360 90816360 + Missense_Mutation SNP A A C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 90816360 90816360 A C SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known missense c.238 p.K80Q 0.005 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 46 10 17.86 71 0 0.00 MMRN1 22915 genome.wustl.edu 37 4 90816728 90816728 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 90816728 90816728 C T SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known silent c.606 p.F202 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 100 16 13.79 112 0 0.00 MMRN1 22915 genome.wustl.edu 37 4 90857754 90857754 + Missense_Mutation SNP A A T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 90857754 90857754 A T SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known missense c.2923 p.T975S 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 32 16 33.33 38 0 0.00 MMRN1 22915 genome.wustl.edu 37 4 90857906 90857906 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 90857906 90857906 G C SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known silent c.3075 p.L1025 0.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 9 5 35.71 21 0 0.00 MMRN2 79812 genome.wustl.edu 37 10 88703291 88703291 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 88703291 88703291 G A SNP MMRN2 ENST00000372027 human ensembl 70_37 -1 known missense c.1250 p.S417F 0.002 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,pfscan_C1q,pfscan_EMI_domain,prints_C1q - no_errors MMRN2 HGNC ENSG00000173269 46 12 20.69 54 0 0.00 MMS19 64210 genome.wustl.edu 37 10 99220675 99220675 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 99220675 99220675 G C SNP MMS19 ENST00000370782 human ensembl 70_37 -1 known missense c.2401 p.L801V 0.994 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 57 18 23.68 59 0 0.00 MMS19 64210 genome.wustl.edu 37 10 99228834 99228834 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 99228834 99228834 C T SNP MMS19 ENST00000370782 human ensembl 70_37 -1 known missense c.952 p.E318K 1.000 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 22 7 24.14 16 0 0.00 MMS19 64210 genome.wustl.edu 37 10 99238091 99238091 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 99238091 99238091 G A SNP MMS19 ENST00000370782 human ensembl 70_37 -1 known silent c.318 p.I106 0.977 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 18 7 28.00 34 0 0.00 MMS22L 253714 genome.wustl.edu 37 6 97609947 97609947 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 97609947 97609947 C G SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known missense c.3316 p.D1106H 0.718 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 23 11 32.35 76 0 0.00 MMS22L 253714 genome.wustl.edu 37 6 97609972 97609972 + Silent SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 97609972 97609972 G C SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known silent c.3291 p.L1097 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 22 12 35.29 69 0 0.00 MMS22L 253714 genome.wustl.edu 37 6 97702483 97702483 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 97702483 97702483 G A SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known missense c.1069 p.H357Y 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 20 18 47.37 53 0 0.00 MMS22L 253714 genome.wustl.edu 37 6 97711270 97711270 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 97711270 97711270 C A SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known nonsense c.883 p.E295* 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 31 12 27.91 57 0 0.00 MN1 4330 genome.wustl.edu 37 22 28146769 28146770 + RNA INS - - GA TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 28146769 28146770 - GA INS MN1 ENST00000497225 human ensembl 70_37 -1 putative rna NULL NULL 0.964:0.985 - - - no_errors MN1 HGNC ENSG00000169184 9 3 25.00 11 0 0.00 MN1 4330 genome.wustl.edu 37 22 28146820 28146820 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 28146820 28146820 G C SNP MN1 ENST00000497225 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MN1 HGNC ENSG00000169184 3 8 72.73 13 0 0.00 MN1 4330 genome.wustl.edu 37 22 28146942 28146942 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 28146942 28146942 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3924 p.I1308M 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 17 18 51.43 38 0 0.00 MN1 4330 genome.wustl.edu 37 22 28147025 28147025 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 28147025 28147025 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3841 p.L1281V 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 25 8 24.24 33 0 0.00 MN1 4330 genome.wustl.edu 37 22 28193385 28193385 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193385 28193385 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known silent c.3147 p.V1049 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 58 34 36.96 61 0 0.00 MN1 4330 genome.wustl.edu 37 22 28193390 28193390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193390 28193390 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3142 p.E1048K 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 57 35 38.04 63 0 0.00 MN1 4330 genome.wustl.edu 37 22 28193687 28193687 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28193687 28193687 C T SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.2845 p.D949N 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 12 11 47.83 21 0 0.00 MN1 4330 genome.wustl.edu 37 22 28195777 28195777 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 28195777 28195777 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.755 p.S252C 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 27 19 41.30 32 0 0.00 MNDA 4332 genome.wustl.edu 37 1 158815707 158815707 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 158815707 158815707 G A SNP MNDA ENST00000368141 human ensembl 70_37 +1 known missense c.901 p.E301K 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 34 7 17.07 24 0 0.00 MNDA 4332 genome.wustl.edu 37 1 158815714 158815714 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 1 158815714 158815714 C G SNP MNDA ENST00000368141 human ensembl 70_37 +1 known missense c.908 p.A303G 0.719 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 145 38 20.77 128 0 0.00 MNS1 55329 genome.wustl.edu 37 15 56726478 56726478 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 56726478 56726478 C G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.1127 p.R376T 0.873 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 65 16 19.75 63 0 0.00 MNS1 55329 genome.wustl.edu 37 15 56735844 56735844 + Nonsense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 56735844 56735844 G A SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known nonsense c.895 p.Q299* 0.843 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 63 48 43.24 121 1 0.82 MNS1 55329 genome.wustl.edu 37 15 56748599 56748599 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 56748599 56748599 C G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.346 p.E116Q 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 22 9 29.03 58 0 0.00 MNS1 55329 genome.wustl.edu 37 15 56748670 56748670 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56748670 56748670 T G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.275 p.K92T 0.973 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 49 12 19.67 80 0 0.00 MNT 4335 genome.wustl.edu 37 17 2290273 2290273 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2290273 2290273 C A SNP MNT ENST00000174618 human ensembl 70_37 -1 known silent c.1671 p.L557 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC ENSG00000070444 40 5 11.11 29 0 0.00 MNT 4335 genome.wustl.edu 37 17 2291254 2291254 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2291254 2291254 G C SNP MNT ENST00000174618 human ensembl 70_37 -1 known silent c.897 p.L299 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC ENSG00000070444 38 26 40.62 88 0 0.00 MNT 4335 genome.wustl.edu 37 17 2298236 2298236 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 2298236 2298236 G T SNP MNT ENST00000174618 human ensembl 70_37 -1 known missense c.586 p.L196M 0.969 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC ENSG00000070444 33 4 10.81 28 0 0.00 MOAP1 64112 genome.wustl.edu 37 14 93649544 93649544 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93649544 93649544 A C SNP MOAP1 ENST00000298894 human ensembl 70_37 -1 known silent c.1044 p.G348 0.000 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 21 10 32.26 25 0 0.00 MOAP1 64112 genome.wustl.edu 37 14 93649864 93649864 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 93649864 93649864 C T SNP MOAP1 ENST00000298894 human ensembl 70_37 -1 known missense c.724 p.G242R 0.988 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 23 5 17.86 39 0 0.00 MOB1B 92597 genome.wustl.edu 37 4 71768103 71768103 + RNA SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 71768103 71768103 C G SNP MOB1B ENST00000511449 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors MOB1B HGNC ENSG00000173542 101 31 23.48 149 0 0.00 MOB2 81532 genome.wustl.edu 37 11 1492613 1492613 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 1492613 1492613 G A SNP MOB2 ENST00000329957 human ensembl 70_37 -1 novel silent c.402 p.V134 0.998 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC ENSG00000182208 40 17 29.82 39 0 0.00 MOB3A 126308 genome.wustl.edu 37 19 2073318 2073318 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2073318 2073318 G A SNP MOB3A ENST00000592143 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MOB3A HGNC ENSG00000172081 37 27 42.19 77 0 0.00 MOB3C 148932 genome.wustl.edu 37 1 47078756 47078756 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 47078756 47078756 C G SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.394 p.E132Q 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 51 34 40.00 69 0 0.00 MOB3C 148932 genome.wustl.edu 37 1 47078756 47078756 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 47078756 47078756 C T SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.394 p.E132K 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 54 19 26.03 39 0 0.00 MOB3C 148932 genome.wustl.edu 37 1 47080684 47080684 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 47080684 47080684 C T SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.65 p.R22K 0.928 NULL pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 58 12 17.14 63 0 0.00 MOBP 4336 genome.wustl.edu 37 3 39544051 39544051 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 39544051 39544051 C G SNP MOBP ENST00000354668 human ensembl 70_37 +1 known missense c.232 p.Q78E 1.000 NULL NULL - no_errors MOBP HGNC ENSG00000168314 14 4 22.22 18 0 0.00 MOCOS 55034 genome.wustl.edu 37 18 33779772 33779772 + Silent SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 33779772 33779772 G C SNP MOCOS ENST00000261326 human ensembl 70_37 +1 known silent c.426 p.G142 0.991 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 24 13 35.14 53 0 0.00 MOCOS 55034 genome.wustl.edu 37 18 33795780 33795780 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 33795780 33795780 C G SNP MOCOS ENST00000261326 human ensembl 70_37 +1 known missense c.1637 p.S546C 0.000 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 10 12 54.55 23 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39874294 39874294 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39874294 39874294 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.1750 p.R584W 0.306 pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 27 10 27.03 31 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39874883 39874883 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39874883 39874883 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.1161 p.L387F 0.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 12 5 29.41 31 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39881113 39881113 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 39881113 39881113 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.705 p.L235F 0.994 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 41 9 18.00 50 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39883833 39883833 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 39883833 39883833 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.562 p.E188Q 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 23 5 17.24 20 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39893501 39893501 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 39893501 39893501 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known silent c.339 p.L113 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 38 47 55.29 93 0 0.00 MOCS1 4337 genome.wustl.edu 37 6 39895145 39895145 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 39895145 39895145 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.173 p.S58F 1.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 13 14 51.85 22 0 0.00 MOGAT1 116255 genome.wustl.edu 37 2 223553201 223553201 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 223553201 223553201 G T SNP MOGAT1 ENST00000446656 human ensembl 70_37 +1 known missense c.233 p.W78L 0.646 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 43 7 14.00 46 0 0.00 MOGAT2 80168 genome.wustl.edu 37 11 75439952 75439952 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 75439952 75439952 C G SNP MOGAT2 ENST00000198801 human ensembl 70_37 +1 known missense c.768 p.I256M 0.965 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 38 29 43.28 37 0 0.00 MOGS 7841 genome.wustl.edu 37 2 74688764 74688764 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 74688764 74688764 C T SNP MOGS ENST00000233616 human ensembl 70_37 -1 known missense c.2152 p.D718N 1.000 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 105 25 19.23 98 0 0.00 MOGS 7841 genome.wustl.edu 37 2 74689731 74689731 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74689731 74689731 G A SNP MOGS ENST00000233616 human ensembl 70_37 -1 known silent c.1185 p.L395 0.998 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 10 11 52.38 37 0 0.00 MON1A 84315 genome.wustl.edu 37 3 49946585 49946585 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49946585 49946585 C T SNP MON1A ENST00000296473 human ensembl 70_37 -1 known silent c.1821 p.V607 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 55 17 23.61 81 0 0.00 MON1B 22879 genome.wustl.edu 37 16 77228297 77228297 + Nonsense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 77228297 77228297 C T SNP MON1B ENST00000248248 human ensembl 70_37 +1 known nonsense c.541 p.Q181* 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 21 26 55.32 28 0 0.00 MON2 23041 genome.wustl.edu 37 12 62860941 62860941 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62860941 62860941 A C SNP MON2 ENST00000549378 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MON2 HGNC ENSG00000061987 20 7 25.93 39 0 0.00 MON2 23041 genome.wustl.edu 37 12 62864489 62864489 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 62864489 62864489 G C SNP MON2 ENST00000547095 human ensembl 70_37 +1 known missense c.120 p.M40I 0.000 NULL NULL - no_errors MON2 HGNC ENSG00000061987 50 10 16.67 46 0 0.00 MON2 23041 genome.wustl.edu 37 12 62895398 62895398 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 62895398 62895398 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.709 p.G237S 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 49 17 25.76 33 0 0.00 MON2 23041 genome.wustl.edu 37 12 62895398 62895398 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 62895398 62895398 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.709 p.G237S 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 57 34 37.36 151 0 0.00 MON2 23041 genome.wustl.edu 37 12 62918307 62918307 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 12 62918307 62918307 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.997 p.E333K 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 58 16 21.62 52 0 0.00 MON2 23041 genome.wustl.edu 37 12 62949938 62949938 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 62949938 62949938 C A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known silent c.3378 p.I1126 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 41 6 12.77 31 0 0.00 MON2 23041 genome.wustl.edu 37 12 62974171 62974171 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 62974171 62974171 C T SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.4673 p.S1558L 1.000 NULL pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 51 13 20.00 33 0 0.00 MORC1 27136 genome.wustl.edu 37 3 108688569 108688569 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 108688569 108688569 G A SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known silent c.2551 p.L851 0.996 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 23 3 11.54 37 0 0.00 MORC1 27136 genome.wustl.edu 37 3 108698464 108698464 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108698464 108698464 G T SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.2375 p.A792D 0.000 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 19 4 17.39 49 0 0.00 MORC1 27136 genome.wustl.edu 37 3 108751580 108751580 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 108751580 108751580 G T SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.1552 p.R518S 0.579 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 71 13 15.48 35 0 0.00 MORC1 27136 genome.wustl.edu 37 3 108751642 108751642 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108751642 108751642 G A SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.1490 p.S497F 0.864 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 23 8 25.81 28 0 0.00 MORC1 27136 genome.wustl.edu 37 3 108813772 108813772 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 108813772 108813772 C G SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known silent c.567 p.V189 0.985 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 41 22 34.92 48 0 0.00 MORC2 22880 genome.wustl.edu 37 22 31354670 31354670 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 31354670 31354670 C T SNP MORC2 ENST00000397641 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 16 10 38.46 47 0 0.00 MORC2-AS1 150291 genome.wustl.edu 37 22 31318350 31318350 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 31318350 31318350 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MORC2-AS1 HGNC ENSG00000235989 38 6 13.64 48 0 0.00 MORC2-AS1 150291 genome.wustl.edu 37 22 31318351 31318351 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 31318351 31318351 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MORC2-AS1 HGNC ENSG00000235989 32 5 13.51 42 0 0.00 MORC2-AS1 150291 genome.wustl.edu 37 22 31318401 31318401 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 31318401 31318401 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors MORC2-AS1 HGNC ENSG00000235989 79 25 24.04 102 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37717218 37717218 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37717218 37717218 A C SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.894 p.T298 0.156 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 18 14 43.75 43 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37728969 37728969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 37728969 37728969 G C SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known missense c.1155 p.M385I 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 28 17 37.78 54 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37732332 37732332 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 21 37732332 37732332 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known missense c.1288 p.P430S 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 55 7 11.29 60 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37741363 37741363 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 21 37741363 37741363 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known missense c.1697 p.S566L 0.728 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 19 14 42.42 27 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37741397 37741397 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 37741397 37741397 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.1731 p.V577 0.998 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 124 37 22.84 139 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37741550 37741550 + Silent SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 37741550 37741550 A G SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.1884 p.S628 0.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 52 25 32.47 68 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37741838 37741838 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 37741838 37741838 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.2172 p.I724 0.020 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 125 23 15.54 147 0 0.00 MORC3 23515 genome.wustl.edu 37 21 37747582 37747582 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 37747582 37747582 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.2808 p.I936 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 53 43 44.79 77 0 0.00 MORC4 79710 genome.wustl.edu 37 X 106186381 106186381 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106186381 106186381 C A SNP MORC4 ENST00000355610 human ensembl 70_37 -1 known missense c.1740 p.Q580H 0.978 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 34 22 39.29 90 0 0.00 MORC4 79710 genome.wustl.edu 37 X 106199763 106199763 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106199763 106199763 C A SNP MORC4 ENST00000355610 human ensembl 70_37 -1 known nonsense c.1456 p.E486* 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 24 10 29.41 47 0 0.00 MORF4L1 10933 genome.wustl.edu 37 15 79140359 79140359 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 79140359 79140359 G A SNP MORF4L1 ENST00000559697 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors MORF4L1 HGNC ENSG00000185787 50 11 18.03 24 0 0.00 MORF4L1 10933 genome.wustl.edu 37 15 79165368 79165368 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79165368 79165368 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known silent c.9 p.P3 0.999 pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 12 9 42.86 42 0 0.00 MORF4L1 10933 genome.wustl.edu 37 15 79186509 79186509 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 79186509 79186509 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.856 p.A286T 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 44 15 25.42 63 0 0.00 MORF4L1 10933 genome.wustl.edu 37 15 79186545 79186545 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 79186545 79186545 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.892 p.G298R 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 45 19 29.23 62 0 0.00 MORF4L1 10933 genome.wustl.edu 37 15 79187165 79187165 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 79187165 79187165 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.923 p.R308Q 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 31 21 40.38 47 0 0.00 MORF4L2 9643 genome.wustl.edu 37 X 102941730 102941730 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 102941730 102941730 G C SNP MORF4L2 ENST00000498064 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MORF4L2 HGNC ENSG00000123562 0 14 100.00 16 0 0.00 MORN3 283385 genome.wustl.edu 37 12 122091038 122091038 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122091038 122091038 C T SNP MORN3 ENST00000355329 human ensembl 70_37 -1 known silent c.591 p.T197 0.658 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 49 33 40.24 96 0 0.00 MORN3 283385 genome.wustl.edu 37 12 122097188 122097188 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 122097188 122097188 C T SNP MORN3 ENST00000355329 human ensembl 70_37 -1 known missense c.212 p.R71Q 0.998 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 59 32 35.16 57 0 0.00 MOSPD1 56180 genome.wustl.edu 37 X 134023170 134023170 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 134023170 134023170 G A SNP MOSPD1 ENST00000480721 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors MOSPD1 HGNC ENSG00000101928 36 8 18.18 62 0 0.00 MOSPD1 56180 genome.wustl.edu 37 X 134033227 134033228 + RNA INS - - G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 134033227 134033228 - G INS MOSPD1 ENST00000462060 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 76 17 18.28 69 0 0.00 MOSPD2 158747 genome.wustl.edu 37 X 14934348 14934348 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 14934348 14934348 C T SNP MOSPD2 ENST00000380492 human ensembl 70_37 +1 known silent c.1216 p.L406 1.000 pfam_Major_sperm,superfamily_PapD-like,pfscan_Major_sperm pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm - no_errors MOSPD2 HGNC ENSG00000130150 42 18 30.00 59 0 0.00 MOV10 4343 genome.wustl.edu 37 1 113217534 113217534 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 113217534 113217534 G A SNP MOV10 ENST00000461226 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MOV10 HGNC ENSG00000155363 40 23 36.51 100 0 0.00 MOV10 4343 genome.wustl.edu 37 1 113217660 113217660 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 113217660 113217660 C A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.126 p.D42E 0.989 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 18 8 30.77 39 0 0.00 MOV10 4343 genome.wustl.edu 37 1 113238053 113238053 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 113238053 113238053 C G SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.1636 p.P546A 1.000 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 78 26 24.76 130 0 0.00 MOV10 4343 genome.wustl.edu 37 1 113240659 113240659 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 113240659 113240659 G A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.2242 p.E748K 0.851 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 25 25 50.00 37 0 0.00 MOV10 4343 genome.wustl.edu 37 1 113242368 113242368 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 113242368 113242368 G A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.2645 p.R882Q 1.000 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 37 15 28.30 75 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50547268 50547268 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50547268 50547268 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.738 p.K246N 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 42 24 36.36 66 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50564699 50564699 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 50564699 50564699 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.1816 p.E606Q 0.990 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 58 7 10.77 55 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50582543 50582543 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 50582543 50582543 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.2376 p.P792 0.162 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 133 65 32.83 229 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50582543 50582543 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 22 50582543 50582543 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.2376 p.P792 0.162 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 37 14 27.45 40 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50598170 50598170 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 50598170 50598170 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.3280 p.E1094K 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 25 13 34.21 55 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50599221 50599221 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50599221 50599221 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.3429 p.L1143 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 34 10 22.73 49 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50599405 50599405 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 50599405 50599405 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.3475 p.G1159R 0.909 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 37 12 24.49 80 0 0.00 MOV10L1 54456 genome.wustl.edu 37 22 50599416 50599416 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 50599416 50599416 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.3486 p.L1162 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 115 34 22.82 224 0 0.00 MPC1 51660 genome.wustl.edu 37 6 166778863 166778863 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 166778863 166778863 C G SNP MPC1 ENST00000475708 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MPC1 HGNC ENSG00000060762 31 18 36.73 76 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13126745 13126745 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 13126745 13126745 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.4491 p.I1497 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 30 14 31.82 44 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13140004 13140004 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 13140004 13140004 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.3985 p.E1329K 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 24 8 25.00 39 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13140127 13140127 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 13140127 13140127 C G SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.3862 p.E1288Q 0.965 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 57 49 46.23 68 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13176163 13176163 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 13176163 13176163 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.2903 p.P968L 0.015 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 29 14 32.56 35 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13176300 13176300 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 13176300 13176300 A T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.2766 p.S922R 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 37 14 27.45 42 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13192225 13192225 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 13192225 13192225 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.1873 p.E625K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 49 7 12.50 53 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13193262 13193262 + Silent SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 13193262 13193262 C A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.1707 p.L569 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 29 4 12.12 62 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13205089 13205089 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 13205089 13205089 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.1492 p.E498K 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 34 6 15.00 34 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13223683 13223683 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 13223683 13223683 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.420 p.L140 1.000 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 39 7 15.22 32 0 0.00 MPDZ 8777 genome.wustl.edu 37 9 13224396 13224396 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 13224396 13224396 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known nonsense c.370 p.Q124* 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 40 9 18.37 48 0 0.00 MPEG1 219972 genome.wustl.edu 37 11 58979797 58979797 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 58979797 58979797 C T SNP MPEG1 ENST00000361050 human ensembl 70_37 -1 known missense c.542 p.R181H 0.068 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 22 11 33.33 47 0 0.00 MPEG1 219972 genome.wustl.edu 37 11 58980271 58980271 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 58980271 58980271 G A SNP MPEG1 ENST00000361050 human ensembl 70_37 -1 known missense c.68 p.S23L 0.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 145 39 21.20 288 0 0.00 MPHOSPH10 10199 genome.wustl.edu 37 2 71357945 71357945 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 71357945 71357945 G A SNP MPHOSPH10 ENST00000468427 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MPHOSPH10 HGNC ENSG00000124383 21 13 37.14 53 0 0.00 MPHOSPH10 10199 genome.wustl.edu 37 2 71371643 71371643 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 71371643 71371643 C T SNP MPHOSPH10 ENST00000244230 human ensembl 70_37 +1 known missense c.1532 p.S511L 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 60 10 14.29 82 0 0.00 MPHOSPH10 10199 genome.wustl.edu 37 2 71375143 71375143 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 71375143 71375143 T G SNP MPHOSPH10 ENST00000244230 human ensembl 70_37 +1 known missense c.1572 p.I524M 0.993 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 41 7 14.58 65 0 0.00 MPHOSPH6 10200 genome.wustl.edu 37 16 82203748 82203748 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 82203748 82203748 C G SNP MPHOSPH6 ENST00000258169 human ensembl 70_37 -1 known missense c.33 p.K11N 1.000 pfam_MPP6 pfam_MPP6 - no_errors MPHOSPH6 HGNC ENSG00000135698 21 6 22.22 33 0 0.00 MPHOSPH8 54737 genome.wustl.edu 37 13 20224391 20224391 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 20224391 20224391 G A SNP MPHOSPH8 ENST00000414242 human ensembl 70_37 +1 known missense c.1567 p.E523K 0.895 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 19 10 34.48 52 0 0.00 MPHOSPH8 54737 genome.wustl.edu 37 13 20240607 20240607 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 20240607 20240607 G C SNP MPHOSPH8 ENST00000414242 human ensembl 70_37 +1 known missense c.2062 p.E688Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 28 15 34.88 30 0 0.00 MPHOSPH9 10198 genome.wustl.edu 37 12 123645783 123645783 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 123645783 123645783 G A SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.2825 p.S942L 0.000 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 44 28 38.89 42 0 0.00 MPHOSPH9 10198 genome.wustl.edu 37 12 123682868 123682868 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 123682868 123682868 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.1495 p.D499H 0.996 superfamily_Prefoldin superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 8 5 38.46 24 0 0.00 MPHOSPH9 10198 genome.wustl.edu 37 12 123702952 123702952 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 123702952 123702952 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.137 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 21 24 53.33 44 0 0.00 MPHOSPH9 10198 genome.wustl.edu 37 12 123702982 123702982 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 123702982 123702982 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.481 p.D161H 0.956 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 46 72 61.02 53 0 0.00 MPHOSPH9 10198 genome.wustl.edu 37 12 123706423 123706423 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123706423 123706423 T A SNP MPHOSPH9 ENST00000538169 human ensembl 70_37 -1 novel missense c.285 p.K95N 0.868 NULL NULL - no_errors MPHOSPH9 HGNC ENSG00000051825 10 8 44.44 24 0 0.00 MPL 4352 genome.wustl.edu 37 1 43812572 43812572 + Silent SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 43812572 43812572 C G SNP MPL ENST00000372470 human ensembl 70_37 +1 known silent c.1275 p.L425 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 18 7 28.00 24 0 0.00 MPL 4352 genome.wustl.edu 37 1 43814553 43814553 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 43814553 43814553 G C SNP MPL ENST00000372470 human ensembl 70_37 +1 known missense c.1348 p.E450Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 29 11 27.50 56 0 0.00 MPO 4353 genome.wustl.edu 37 17 56349079 56349079 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 56349079 56349079 C T SNP MPO ENST00000340482 human ensembl 70_37 -1 known missense c.2063 p.R688H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 64 42 39.62 101 0 0.00 MPO 4353 genome.wustl.edu 37 17 56357796 56357796 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 56357796 56357796 G A SNP MPO ENST00000340482 human ensembl 70_37 -1 known missense c.179 p.S60L 0.026 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 38 9 19.15 36 0 0.00 MPP1 4354 genome.wustl.edu 37 X 154020470 154020470 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 154020470 154020470 C A SNP MPP1 ENST00000369534 human ensembl 70_37 -1 known nonsense c.193 p.E65* 1.000 superfamily_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC ENSG00000130830 3 6 66.67 21 0 0.00 MPP1 4354 genome.wustl.edu 37 X 154033047 154033047 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 154033047 154033047 C T SNP MPP1 ENST00000439370 human ensembl 70_37 -1 known missense c.158 p.G53E 0.000 NULL NULL - no_errors MPP1 HGNC ENSG00000130830 49 38 43.68 47 0 0.00 MPP2 4355 genome.wustl.edu 37 17 41955285 41955285 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 41955285 41955285 C G SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known missense c.1621 p.D541H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC ENSG00000108852 21 18 46.15 33 0 0.00 MPP2 4355 genome.wustl.edu 37 17 41956724 41956724 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 41956724 41956724 G A SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known silent c.1473 p.F491 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC ENSG00000108852 136 27 16.56 160 0 0.00 MPP2 4355 genome.wustl.edu 37 17 41958920 41958920 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 41958920 41958920 C T SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known missense c.791 p.R264Q 0.019 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC ENSG00000108852 39 8 17.02 42 0 0.00 MPP3 4356 genome.wustl.edu 37 17 41888516 41888516 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41888516 41888516 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known missense c.1313 p.S438F 0.998 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC ENSG00000161647 44 8 15.38 52 0 0.00 MPP3 4356 genome.wustl.edu 37 17 41891626 41891626 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41891626 41891626 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known silent c.1113 p.Y371 0.991 NULL pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC ENSG00000161647 18 5 21.74 19 0 0.00 MPP3 4356 genome.wustl.edu 37 17 41905135 41905135 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 41905135 41905135 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known silent c.507 p.G169 0.709 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC ENSG00000161647 67 49 41.88 48 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67759227 67759227 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759227 67759227 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known splice_site c.368-1 e2-1 1.000 - - - no_errors MPP5 HGNC ENSG00000072415 8 16 66.67 40 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67759236 67759236 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759236 67759236 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.376 p.D126N 1.000 pfam_L27_N,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 11 18 62.07 45 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67759340 67759340 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759340 67759340 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_L27_N,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 27 22 44.90 51 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67769170 67769170 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 67769170 67769170 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.845 p.R282Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 34 11 24.44 28 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67770295 67770295 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 14 67770295 67770295 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.1020 p.P340 0.893 superfamily_SH3_domain,superfamily_PDZ pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 32 21 39.62 43 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67786976 67786976 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 14 67786976 67786976 G T SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known nonsense c.1399 p.E467* 1.000 NULL pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 34 4 10.53 50 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67787084 67787084 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 67787084 67787084 G C SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.1507 p.E503Q 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 31 18 36.73 45 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67799610 67799610 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 67799610 67799610 G T SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.1965 p.L655F 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 34 4 10.53 37 0 0.00 MPP5 64398 genome.wustl.edu 37 14 67799667 67799667 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 67799667 67799667 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.2022 p.L674 1.000 NULL pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC ENSG00000072415 71 13 15.48 58 0 0.00 MPP6 51678 genome.wustl.edu 37 7 24703216 24703216 + Missense_Mutation SNP T T G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 24703216 24703216 T G SNP MPP6 ENST00000222644 human ensembl 70_37 +1 known missense c.659 p.V220G 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP6 HGNC ENSG00000105926 52 13 20.00 76 0 0.00 MPP7 143098 genome.wustl.edu 37 10 28341768 28341768 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 28341768 28341768 C T SNP MPP7 ENST00000496637 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP7 HGNC ENSG00000150054 36 24 40.00 36 0 0.00 MPP7 143098 genome.wustl.edu 37 10 28358735 28358735 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 28358735 28358735 G A SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known silent c.1170 p.I390 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 13 4 23.53 45 0 0.00 MPP7 143098 genome.wustl.edu 37 10 28408627 28408627 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 28408627 28408627 C T SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known missense c.905 p.R302Q 1.000 superfamily_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 3 9 75.00 24 0 0.00 MPP7 143098 genome.wustl.edu 37 10 28420622 28420622 + Splice_Site SNP T T C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 28420622 28420622 T C SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known splice_site c.316-2 e5-2 0.999 - - - no_errors MPP7 HGNC ENSG00000150054 17 10 37.04 22 0 0.00 MPPE1 65258 genome.wustl.edu 37 18 11884235 11884235 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 11884235 11884235 G C SNP MPPE1 ENST00000592755 human ensembl 70_37 -1 putative rna NULL NULL 0.204 - - - no_errors MPPE1 HGNC ENSG00000154889 40 53 56.99 91 0 0.00 MPPE1 65258 genome.wustl.edu 37 18 11884271 11884271 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 11884271 11884271 G A SNP MPPE1 ENST00000592755 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors MPPE1 HGNC ENSG00000154889 35 7 16.67 71 0 0.00 MPPE1 65258 genome.wustl.edu 37 18 11889405 11889405 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 11889405 11889405 C G SNP MPPE1 ENST00000588072 human ensembl 70_37 -1 known missense c.475 p.D159H 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 40 25 38.46 63 0 0.00 MPPED1 758 genome.wustl.edu 37 22 43821022 43821022 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 43821022 43821022 C T SNP MPPED1 ENST00000538182 human ensembl 70_37 +1 known silent c.130 p.L44 1.000 NULL pfam_Metallo_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 78 38 32.76 112 0 0.00 MPPED1 758 genome.wustl.edu 37 22 43821097 43821097 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 43821097 43821097 C T SNP MPPED1 ENST00000538182 human ensembl 70_37 +1 known missense c.205 p.R69W 0.989 NULL pfam_Metallo_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 50 24 32.43 64 0 0.00 MPPED2 744 genome.wustl.edu 37 11 30516990 30516990 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30516990 30516990 A G SNP MPPED2 ENST00000358117 human ensembl 70_37 -1 known missense c.389 p.L130P 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 32 6 15.79 42 0 0.00 MPRIP 23164 genome.wustl.edu 37 17 17000095 17000095 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17000095 17000095 G A SNP MPRIP ENST00000395807 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MPRIP HGNC ENSG00000133030 36 26 41.94 86 0 0.00 MPST 4357 genome.wustl.edu 37 22 37420682 37420682 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 22 37420682 37420682 C T SNP MPST ENST00000397129 human ensembl 70_37 +1 known silent c.486 p.L162 0.582 superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MPST HGNC ENSG00000128309 44 22 33.33 48 0 0.00 MPV17 4358 genome.wustl.edu 37 2 27547302 27547302 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 27547302 27547302 C T SNP MPV17 ENST00000357186 human ensembl 70_37 -1 novel missense c.16 p.E6K 0.009 NULL pfam_Mpv17_PMP22 - no_errors MPV17 HGNC ENSG00000115204 124 45 26.63 109 1 0.91 MPV17L2 84769 genome.wustl.edu 37 19 18307151 18307151 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18307151 18307151 C T SNP MPV17L2 ENST00000599612 human ensembl 70_37 +1 known missense c.911 p.S304F 0.021 NULL pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC ENSG00000254858 29 13 30.95 27 0 0.00 MPZ 4359 genome.wustl.edu 37 1 161277055 161277055 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 161277055 161277055 G A SNP MPZ ENST00000360451 human ensembl 70_37 -1 known missense c.257 p.A86V 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZ HGNC ENSG00000158887 27 3 10.00 17 0 0.00 MPZL1 9019 genome.wustl.edu 37 1 167757061 167757061 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 167757061 167757061 C T SNP MPZL1 ENST00000474859 human ensembl 70_37 +1 known nonsense c.610 p.Q204* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 93 32 25.40 95 0 0.00 MPZL2 10205 genome.wustl.edu 37 11 118130861 118130861 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 118130861 118130861 C T SNP MPZL2 ENST00000438295 human ensembl 70_37 -1 known silent c.492 p.L164 1.000 prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 26 26 50.00 62 0 0.00 MPZL2 10205 genome.wustl.edu 37 11 118134829 118134829 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 118134829 118134829 G T SNP MPZL2 ENST00000438295 human ensembl 70_37 -1 known missense c.40 p.L14I 0.073 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 31 4 11.43 30 0 0.00 MRAP 56246 genome.wustl.edu 37 21 33684046 33684046 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 33684046 33684046 C A SNP MRAP ENST00000303645 human ensembl 70_37 +1 known silent c.258 p.L86 0.067 NULL NULL - no_errors MRAP HGNC ENSG00000170262 18 4 18.18 14 0 0.00 MRAP2 112609 genome.wustl.edu 37 6 84772652 84772652 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 84772652 84772652 C T SNP MRAP2 ENST00000257776 human ensembl 70_37 +1 known silent c.168 p.F56 0.829 NULL NULL - no_errors MRAP2 HGNC ENSG00000135324 47 20 29.85 131 0 0.00 MRAS 22808 genome.wustl.edu 37 3 138119446 138119446 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 138119446 138119446 G C SNP MRAS ENST00000289104 human ensembl 70_37 +1 known missense c.518 p.R173T 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 90 25 21.74 52 0 0.00 MRC2 9902 genome.wustl.edu 37 17 60742246 60742246 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60742246 60742246 G C SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known missense c.456 p.Q152H 0.986 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 32 8 20.00 37 0 0.00 MRC2 9902 genome.wustl.edu 37 17 60749358 60749358 + Splice_Site SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 60749358 60749358 G A SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known splice_site c.1307-1 e8-1 1.000 - - - no_errors MRC2 HGNC ENSG00000011028 109 24 17.91 115 1 0.86 MRC2 9902 genome.wustl.edu 37 17 60751508 60751508 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60751508 60751508 G A SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known missense c.1546 p.E516K 0.927 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 74 28 27.45 90 0 0.00 MRE11A 4361 genome.wustl.edu 37 11 94192676 94192676 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 94192676 94192676 C T SNP MRE11A ENST00000323929 human ensembl 70_37 -1 known silent c.1398 p.E466 0.965 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 98 67 40.36 155 0 0.00 MRE11A 4361 genome.wustl.edu 37 11 94204765 94204765 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 94204765 94204765 G C SNP MRE11A ENST00000323929 human ensembl 70_37 -1 known missense c.820 p.L274V 1.000 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 8 9 52.94 55 0 0.00 MREG 55686 genome.wustl.edu 37 2 216809669 216809669 + Nonsense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 216809669 216809669 G A SNP MREG ENST00000263268 human ensembl 70_37 -1 known nonsense c.562 p.R188* 0.683 NULL NULL - no_errors MREG HGNC ENSG00000118242 29 18 38.30 33 0 0.00 MRFAP1 93621 genome.wustl.edu 37 4 6642923 6642923 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 6642923 6642923 G C SNP MRFAP1 ENST00000320912 human ensembl 70_37 +1 known missense c.334 p.E112Q 0.997 NULL NULL - no_errors MRFAP1 HGNC ENSG00000179010 40 14 25.93 60 0 0.00 MRGPRD 116512 genome.wustl.edu 37 11 68747955 68747955 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 68747955 68747955 G C SNP MRGPRD ENST00000309106 human ensembl 70_37 -1 known missense c.501 p.F167L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 37 12 24.49 51 0 0.00 MRGPRF 116535 genome.wustl.edu 37 11 68773105 68773105 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68773105 68773105 C T SNP MRGPRF ENST00000309099 human ensembl 70_37 -1 known missense c.673 p.E225K 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 82 18 18.00 18 0 0.00 MRGPRF 116535 genome.wustl.edu 37 11 68773160 68773160 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 68773160 68773160 G A SNP MRGPRF ENST00000309099 human ensembl 70_37 -1 known silent c.618 p.F206 0.575 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 9 7 43.75 10 0 0.00 MRGPRG 386746 genome.wustl.edu 37 11 3239921 3239921 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 3239921 3239921 G C SNP MRGPRG ENST00000332314 human ensembl 70_37 -1 known missense c.123 p.I41M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRG HGNC ENSG00000182170 45 11 19.64 76 0 0.00 MRGPRG-AS1 283303 genome.wustl.edu 37 11 3243411 3243411 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 3243411 3243411 G A SNP MRGPRG-AS1 ENST00000420873 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors MRGPRG-AS1 HGNC ENSG00000236301 14 4 22.22 18 0 0.00 MRGPRX1 259249 genome.wustl.edu 37 11 18955407 18955407 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 18955407 18955407 G C SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known missense c.925 p.P309A 0.052 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 67 21 23.86 106 0 0.00 MRGPRX1 259249 genome.wustl.edu 37 11 18955962 18955962 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 18955962 18955962 C T SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known missense c.370 p.V124I 0.853 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 34 10 22.73 23 0 0.00 MRGPRX1 259249 genome.wustl.edu 37 11 18956110 18956110 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 18956110 18956110 G A SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known silent c.222 p.L74 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 190 40 17.32 239 0 0.00 MRGPRX4 117196 genome.wustl.edu 37 11 18195401 18195401 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 18195401 18195401 G T SNP MRGPRX4 ENST00000314254 human ensembl 70_37 +1 known missense c.598 p.V200F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 19 3 13.64 27 0 0.00 MRI1 84245 genome.wustl.edu 37 19 13875437 13875437 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13875437 13875437 C A SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known missense c.35 p.S12Y 0.998 tigrfam_IF-2BI_MTNA pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 15 5 25.00 13 0 0.00 MRI1 84245 genome.wustl.edu 37 19 13875878 13875878 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13875878 13875878 G A SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known missense c.326 p.R109Q 0.003 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 56 18 24.00 68 0 0.00 MRI1 84245 genome.wustl.edu 37 19 13875886 13875886 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13875886 13875886 G T SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known nonsense c.334 p.E112* 0.970 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 64 23 26.44 74 0 0.00 MRPL1 65008 genome.wustl.edu 37 4 78783989 78783989 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 78783989 78783989 C T SNP MRPL1 ENST00000515625 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors MRPL1 HGNC ENSG00000169288 96 23 19.33 122 0 0.00 MRPL10 124995 genome.wustl.edu 37 17 45908804 45908804 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 45908804 45908804 G A SNP MRPL10 ENST00000421763 human ensembl 70_37 -1 known missense c.74 p.S25L 0.005 NULL NULL - no_errors MRPL10 HGNC ENSG00000159111 82 57 41.01 118 0 0.00 MRPL14 64928 genome.wustl.edu 37 6 44081737 44081737 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 44081737 44081737 G T SNP MRPL14 ENST00000372014 human ensembl 70_37 -1 known missense c.281 p.P94H 0.182 pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom - no_errors MRPL14 HGNC ENSG00000180992 36 4 10.00 37 0 0.00 MRPL15 29088 genome.wustl.edu 37 8 55060161 55060161 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 55060161 55060161 C G SNP MRPL15 ENST00000260102 human ensembl 70_37 +1 known missense c.773 p.T258S 0.102 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 18 3 14.29 26 0 0.00 MRPL18 29074 genome.wustl.edu 37 6 160211646 160211648 + In_Frame_Del DEL GTT GTT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160211646 160211648 GTT - DEL MRPL18 ENST00000367034 human ensembl 70_37 +1 known in_frame_del c.27_29 p.L10in_frame_del 0.010:0.006:0.000 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 214 27 11.20 275 0 0.00 MRPL18 29074 genome.wustl.edu 37 6 160219111 160219111 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 160219111 160219111 G A SNP MRPL18 ENST00000367034 human ensembl 70_37 +1 known missense c.499 p.E167K 1.000 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 65 15 18.75 83 0 0.00 MRPL2 51069 genome.wustl.edu 37 6 43026954 43026954 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 43026954 43026954 C G SNP MRPL2 ENST00000487429 human ensembl 70_37 -1 putative missense c.166 p.E56Q 0.000 NULL NULL - no_errors MRPL2 HGNC ENSG00000112651 13 13 50.00 30 0 0.00 MRPL2 51069 genome.wustl.edu 37 6 43027092 43027092 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 43027092 43027092 G A SNP MRPL2 ENST00000388752 human ensembl 70_37 -1 known silent c.28 p.L10 0.953 NULL pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like - no_errors MRPL2 HGNC ENSG00000112651 33 8 19.51 34 0 0.00 MRPL20 55052 genome.wustl.edu 37 1 1337574 1337574 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 1337574 1337574 G A SNP MRPL20 ENST00000344843 human ensembl 70_37 -1 known silent c.339 p.F113 1.000 pfam_Ribosomal_L20,tigrfam_Ribosomal_L20 pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20 - no_errors MRPL20 HGNC ENSG00000242485 26 4 13.33 30 0 0.00 MRPL21 219927 genome.wustl.edu 37 11 68663993 68663993 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 68663993 68663993 C T SNP MRPL21 ENST00000362034 human ensembl 70_37 -1 known missense c.386 p.R129Q 0.991 pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 89 30 25.21 208 0 0.00 MRPL21 219927 genome.wustl.edu 37 11 68671240 68671240 + Silent SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 68671240 68671240 C A SNP MRPL21 ENST00000362034 human ensembl 70_37 -1 known silent c.39 p.L13 0.882 NULL pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 30 8 21.05 26 0 0.00 MRPL22 29093 genome.wustl.edu 37 5 154330430 154330430 + Nonsense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 154330430 154330430 C T SNP MRPL22 ENST00000523037 human ensembl 70_37 +1 known nonsense c.127 p.R43* 0.035 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 58 8 12.12 53 0 0.00 MRPL22 29093 genome.wustl.edu 37 5 154330435 154330435 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154330435 154330435 A C SNP MRPL22 ENST00000523037 human ensembl 70_37 +1 known missense c.132 p.K44N 0.797 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 35 13 27.08 69 0 0.00 MRPL23-AS1 100133545 genome.wustl.edu 37 11 2005759 2005759 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 2005759 2005759 C T SNP MRPL23-AS1 ENST00000419080 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MRPL23-AS1 HGNC ENSG00000226416 52 23 30.67 58 0 0.00 MRPL27 51264 genome.wustl.edu 37 17 48447381 48447381 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 48447381 48447381 G A SNP MRPL27 ENST00000442592 human ensembl 70_37 -1 putative silent c.252 p.S84 0.000 pfam_Ribosomal_L27,superfamily_Ribosomal_L27 pfam_Ribosomal_L27,superfamily_Ribosomal_L27,prints_Ribosomal_L27 - no_errors MRPL27 HGNC ENSG00000108826 28 5 15.15 39 0 0.00 MRPL28 10573 genome.wustl.edu 37 16 419128 419128 + Silent SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 419128 419128 C A SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.381 p.V127 1.000 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 20 20 50.00 57 0 0.00 MRPL28 10573 genome.wustl.edu 37 16 420123 420123 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 420123 420123 C T SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.96 p.L32 0.161 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 46 8 14.81 67 0 0.00 MRPL28 10573 genome.wustl.edu 37 16 420171 420171 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 420171 420171 C T SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.48 p.L16 0.999 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 35 9 20.45 47 0 0.00 MRPL3 11222 genome.wustl.edu 37 3 131220486 131220486 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 131220486 131220486 C G SNP MRPL3 ENST00000264995 human ensembl 70_37 -1 known missense c.166 p.E56Q 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 150 121 44.49 273 1 0.36 MRPL3 11222 genome.wustl.edu 37 3 131220486 131220486 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 131220486 131220486 C G SNP MRPL3 ENST00000264995 human ensembl 70_37 -1 known missense c.166 p.E56Q 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 39 36 48.00 40 0 0.00 MRPL34 64981 genome.wustl.edu 37 19 17417161 17417161 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 17417161 17417161 C T SNP MRPL34 ENST00000252602 human ensembl 70_37 +1 known silent c.252 p.L84 0.670 pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 - no_errors MRPL34 HGNC ENSG00000130312 8 4 33.33 12 0 0.00 MRPL35 51318 genome.wustl.edu 37 2 86426645 86426645 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 86426645 86426645 G A SNP MRPL35 ENST00000337109 human ensembl 70_37 +1 known missense c.32 p.R11K 0.066 NULL pfam_Ribosomal_L35 - no_errors MRPL35 HGNC ENSG00000132313 53 14 20.90 70 0 0.00 MRPL37 51253 genome.wustl.edu 37 1 54649831 54649831 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 54649831 54649831 G C SNP MRPL37 ENST00000487096 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors MRPL37 HGNC ENSG00000116221 79 14 15.05 64 0 0.00 MRPL37 51253 genome.wustl.edu 37 1 54675624 54675624 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 54675624 54675624 C A SNP MRPL37 ENST00000360840 human ensembl 70_37 +1 known missense c.652 p.L218I 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 32 19 37.25 59 0 0.00 MRPL37 51253 genome.wustl.edu 37 1 54683899 54683899 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 54683899 54683899 C G SNP MRPL37 ENST00000360840 human ensembl 70_37 +1 known missense c.1249 p.L417V 0.554 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 43 5 10.42 60 0 0.00 MRPL4 51073 genome.wustl.edu 37 19 10363049 10363049 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 10363049 10363049 C G SNP MRPL4 ENST00000588502 human ensembl 70_37 +1 putative missense c.31 p.L11V 0.012 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 116 29 20.00 130 0 0.00 MRPL4 51073 genome.wustl.edu 37 19 10369970 10369970 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10369970 10369970 G A SNP MRPL4 ENST00000393733 human ensembl 70_37 +1 putative missense c.862 p.D288N 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 27 8 22.86 58 0 0.00 MRPL4 51073 genome.wustl.edu 37 19 10370058 10370058 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10370058 10370058 G C SNP MRPL4 ENST00000393733 human ensembl 70_37 +1 putative missense c.950 p.G317A 0.003 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 36 13 26.53 37 0 0.00 MRPL40 64976 genome.wustl.edu 37 22 19423532 19423532 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 19423532 19423532 G A SNP MRPL40 ENST00000471259 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MRPL40 HGNC ENSG00000185608 39 11 22.00 53 0 0.00 MRPL41 64975 genome.wustl.edu 37 9 140446917 140446917 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140446917 140446917 C T SNP MRPL41 ENST00000371443 human ensembl 70_37 +1 known silent c.384 p.F128 1.000 NULL pfam_Ribosomal_L27/L41_mit - no_errors MRPL41 HGNC ENSG00000182154 45 25 35.71 47 0 0.00 MRPL43 84545 genome.wustl.edu 37 10 102746715 102746715 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 102746715 102746715 C A SNP MRPL43 ENST00000370242 human ensembl 70_37 -1 known nonsense c.256 p.E86* 1.000 pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPL43 HGNC ENSG00000055950 27 22 44.90 44 0 0.00 MRPL44 65080 genome.wustl.edu 37 2 224824505 224824508 + Frame_Shift_Del DEL ACCC ACCC - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 ACCC ACCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 224824505 224824508 ACCC - DEL MRPL44 ENST00000258383 human ensembl 70_37 +1 known frame_shift_del c.434_437 p.Y145fs 0.011:0.564:0.998:1.000 superfamily_RNase_III_dom superfamily_RNase_III_dom,pfscan_Ds-RNA-bd - no_errors MRPL44 HGNC ENSG00000135900 38 9 19.15 52 0 0.00 MRPL44 65080 genome.wustl.edu 37 2 224824575 224824575 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 2 224824575 224824575 C T SNP MRPL44 ENST00000258383 human ensembl 70_37 +1 known silent c.504 p.H168 0.046 superfamily_RNase_III_dom superfamily_RNase_III_dom,pfscan_Ds-RNA-bd - no_errors MRPL44 HGNC ENSG00000135900 5 8 61.54 23 0 0.00 MRPL46 26589 genome.wustl.edu 37 15 89010588 89010588 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 89010588 89010588 C T SNP MRPL46 ENST00000312475 human ensembl 70_37 -1 known silent c.21 p.R7 0.000 NULL pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 HGNC ENSG00000259494 20 4 16.67 10 0 0.00 MRPL49 740 genome.wustl.edu 37 11 64889736 64889736 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64889736 64889736 G A SNP MRPL49 ENST00000524482 human ensembl 70_37 +1 known rna NULL NULL 0.684 - - - no_errors MRPL49 HGNC ENSG00000149792 54 14 20.59 59 0 0.00 MRPL50 54534 genome.wustl.edu 37 9 104152783 104152783 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 104152783 104152783 G A SNP MRPL50 ENST00000374865 human ensembl 70_37 -1 known silent c.442 p.L148 0.911 pfam_Ribosomal_L50_mt pfam_Ribosomal_L50_mt - no_errors MRPL50 HGNC ENSG00000136897 26 36 57.14 35 0 0.00 MRPL53 116540 genome.wustl.edu 37 2 74699552 74699553 + Frame_Shift_Del DEL AT AT - TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 74699552 74699553 AT - DEL MRPL53 ENST00000258105 human ensembl 70_37 -1 known frame_shift_del c.138_137 p.N46fs 0.999:1.000 pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC ENSG00000204822 31 20 39.22 42 0 0.00 MRPL53 116540 genome.wustl.edu 37 2 74699582 74699582 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 74699582 74699582 C A SNP MRPL53 ENST00000258105 human ensembl 70_37 -1 known silent c.108 p.T36 0.855 pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC ENSG00000204822 24 10 29.41 45 0 0.00 MRPL9 65005 genome.wustl.edu 37 1 151733963 151733963 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 151733963 151733963 C T SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known silent c.552 p.L184 0.998 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 32 21 39.62 43 0 0.00 MRPL9 65005 genome.wustl.edu 37 1 151734851 151734851 + Splice_Site SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151734851 151734851 C T SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known splice_site c.435+1 e3+1 1.000 - - - no_errors MRPL9 HGNC ENSG00000143436 11 42 79.25 30 0 0.00 MRPL9 65005 genome.wustl.edu 37 1 151735518 151735518 + Silent SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151735518 151735518 C A SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known silent c.258 p.T86 0.673 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 60 7 10.45 73 0 0.00 MRPS14 63931 genome.wustl.edu 37 1 174987559 174987559 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 174987559 174987559 G A SNP MRPS14 ENST00000476371 human ensembl 70_37 -1 known missense c.199 p.L67F 1.000 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 35 53 60.23 78 0 0.00 MRPS15 64960 genome.wustl.edu 37 1 36926863 36926863 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36926863 36926863 A C SNP MRPS15 ENST00000373116 human ensembl 70_37 -1 known splice_site c.300+2 e4+2 1.000 - - - no_errors MRPS15 HGNC ENSG00000116898 19 8 29.63 29 0 0.00 MRPS18B 28973 genome.wustl.edu 37 6 30585715 30585715 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 30585715 30585715 G A SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known missense c.73 p.V25I 0.998 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 24 21 46.67 61 0 0.00 MRPS18B 28973 genome.wustl.edu 37 6 30587278 30587278 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 30587278 30587278 C G SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known silent c.87 p.L29 0.989 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 13 15 53.57 40 0 0.00 MRPS18B 28973 genome.wustl.edu 37 6 30593386 30593386 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30593386 30593386 G C SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known missense c.589 p.D197H 0.000 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 60 26 30.23 66 0 0.00 MRPS18C 51023 genome.wustl.edu 37 4 84380912 84380912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84380912 84380912 C G SNP MRPS18C ENST00000295491 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 - no_errors MRPS18C HGNC ENSG00000163319 44 10 18.52 42 0 0.00 MRPS22 56945 genome.wustl.edu 37 3 139063000 139063000 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 139063000 139063000 C G SNP MRPS22 ENST00000310776 human ensembl 70_37 +1 known missense c.132 p.F44L 0.009 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 32 56 63.64 43 0 0.00 MRPS22 56945 genome.wustl.edu 37 3 139063526 139063526 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 139063526 139063526 G C SNP MRPS22 ENST00000478464 human ensembl 70_37 +1 putative missense c.15 p.E5D 0.005 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 33 16 32.65 54 0 0.00 MRPS22 56945 genome.wustl.edu 37 3 139065764 139065764 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 139065764 139065764 G A SNP MRPS22 ENST00000310776 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_Ribosomal_S22_mit pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 97 11 10.19 86 0 0.00 MRPS24 64951 genome.wustl.edu 37 7 43906468 43906468 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 43906468 43906468 G A SNP MRPS24 ENST00000317534 human ensembl 70_37 -1 known missense c.334 p.R112C 1.000 NULL NULL - no_errors MRPS24 HGNC ENSG00000062582 63 33 34.02 100 0 0.00 MRPS24 64951 genome.wustl.edu 37 7 43908607 43908607 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43908607 43908607 G A SNP MRPS24 ENST00000317534 human ensembl 70_37 -1 known missense c.175 p.P59S 1.000 NULL NULL - no_errors MRPS24 HGNC ENSG00000062582 17 13 43.33 33 0 0.00 MRPS27 23107 genome.wustl.edu 37 5 71521910 71521910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 71521910 71521910 C G SNP MRPS27 ENST00000513900 human ensembl 70_37 -1 known missense c.853 p.E285Q 0.368 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 16 14 46.67 20 0 0.00 MRPS28 28957 genome.wustl.edu 37 8 80942405 80942405 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 80942405 80942405 G A SNP MRPS28 ENST00000276585 human ensembl 70_37 -1 known missense c.79 p.R27W 0.489 NULL pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like - no_errors MRPS28 HGNC ENSG00000147586 60 101 62.73 94 0 0.00 MRPS30 10884 genome.wustl.edu 37 5 44809106 44809106 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 44809106 44809106 G A SNP MRPS30 ENST00000507110 human ensembl 70_37 +1 known silent c.42 p.P14 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 30 9 23.08 36 0 0.00 MRPS30 10884 genome.wustl.edu 37 5 44813303 44813303 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 44813303 44813303 G A SNP MRPS30 ENST00000507110 human ensembl 70_37 +1 known missense c.949 p.A317T 1.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 50 45 47.37 113 0 0.00 MRPS31 10240 genome.wustl.edu 37 13 41341071 41341071 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 41341071 41341071 G A SNP MRPS31 ENST00000323563 human ensembl 70_37 -1 known missense c.251 p.T84I 0.001 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 93 35 26.92 117 0 0.00 MRPS31P5 100887750 genome.wustl.edu 37 13 52809355 52809355 + RNA SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 13 52809355 52809355 C A SNP MRPS31P5 ENST00000422308 human ensembl 70_37 -1 known rna NULL NULL 0.989 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 27 5 15.62 28 0 0.00 MRPS31P5 100887750 genome.wustl.edu 37 13 52832670 52832670 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 52832670 52832670 G C SNP MRPS31P5 ENST00000422308 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 112 25 18.25 66 0 0.00 MRPS33 51650 genome.wustl.edu 37 7 140710384 140710384 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 140710384 140710384 C T SNP MRPS33 ENST00000324787 human ensembl 70_37 -1 known missense c.50 p.R17Q 1.000 pfam_Ribosomal_S27/S33_mit pfam_Ribosomal_S27/S33_mit - no_errors MRPS33 HGNC ENSG00000090263 93 16 14.68 121 0 0.00 MRPS5 64969 genome.wustl.edu 37 2 95773922 95773922 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 95773922 95773922 C G SNP MRPS5 ENST00000272418 human ensembl 70_37 -1 known missense c.635 p.G212A 1.000 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 83 20 19.42 66 0 0.00 MRPS9 64965 genome.wustl.edu 37 2 105654622 105654622 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 105654622 105654622 C T SNP MRPS9 ENST00000258455 human ensembl 70_37 +1 known silent c.72 p.L24 0.000 NULL pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors MRPS9 HGNC ENSG00000135972 84 10 10.64 131 0 0.00 MRRFP1 286423 genome.wustl.edu 37 X 122251028 122251028 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 122251028 122251028 C T SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known silent c.582 p.V194 0.995 pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC ENSG00000224236 48 39 44.83 86 0 0.00 MRRFP1 286423 genome.wustl.edu 37 X 122251331 122251331 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 122251331 122251331 C T SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known silent c.279 p.K93 0.989 superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC ENSG00000224236 77 38 33.04 110 0 0.00 MRRFP1 286423 genome.wustl.edu 37 X 122251339 122251339 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 122251339 122251339 C G SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known missense c.271 p.E91Q 1.000 superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC ENSG00000224236 75 12 13.79 79 0 0.00 MRRFP1 286423 genome.wustl.edu 37 X 122251467 122251467 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 122251467 122251467 G C SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known nonsense c.143 p.S48* 0.018 NULL pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC ENSG00000224236 111 25 18.38 146 0 0.00 MRS2 57380 genome.wustl.edu 37 6 24423832 24423832 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 24423832 24423832 G C SNP MRS2 ENST00000443868 human ensembl 70_37 +1 known missense c.1251 p.K417N 0.857 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 47 17 26.56 67 0 0.00 MRTO4 51154 genome.wustl.edu 37 1 19583621 19583621 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 19583621 19583621 C T SNP MRTO4 ENST00000330263 human ensembl 70_37 +1 known silent c.255 p.Y85 1.000 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 51 7 12.07 114 0 0.00 MRTO4 51154 genome.wustl.edu 37 1 19584270 19584270 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 19584270 19584270 C T SNP MRTO4 ENST00000479559 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MRTO4 HGNC ENSG00000053372 27 34 55.74 61 0 0.00 MRVI1 10335 genome.wustl.edu 37 11 10602102 10602102 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 10602102 10602102 G C SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.2368 p.Q790E 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 101 44 30.34 103 0 0.00 MRVI1 10335 genome.wustl.edu 37 11 10622540 10622540 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 10622540 10622540 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.1915 p.E639Q 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 222 62 21.75 319 0 0.00 MRVI1 10335 genome.wustl.edu 37 11 10628291 10628291 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 10628291 10628291 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.1573 p.E525Q 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 40 18 31.03 46 0 0.00 MRVI1 10335 genome.wustl.edu 37 11 10653569 10653569 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 10653569 10653569 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.342 p.L114F 1.000 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 49 17 25.76 89 0 0.00 MRVI1-AS1 100129827 genome.wustl.edu 37 11 10562858 10562858 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10562858 10562858 C A SNP MRVI1-AS1 ENST00000529829 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MRVI1-AS1 HGNC ENSG00000177112 49 41 45.56 38 0 0.00 MS4A1 931 genome.wustl.edu 37 11 60235878 60235878 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 60235878 60235878 G A SNP MS4A1 ENST00000345732 human ensembl 70_37 +1 known silent c.831 p.T277 0.109 NULL pfam_CD20-like - no_errors MS4A1 HGNC ENSG00000156738 28 8 22.22 66 0 0.00 MS4A12 54860 genome.wustl.edu 37 11 60265180 60265180 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 60265180 60265180 C T SNP MS4A12 ENST00000525951 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MS4A12 HGNC ENSG00000071203 8 8 50.00 13 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60172024 60172024 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 60172024 60172024 C A SNP MS4A14 ENST00000525397 human ensembl 70_37 +1 known missense c.474 p.F158L 0.004 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 39 24 38.10 36 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60182921 60182921 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60182921 60182921 C G SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.480 p.F160L 1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 24 7 22.58 46 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60183174 60183174 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 60183174 60183174 G A SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.733 p.E245K 0.001 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 15 15 50.00 16 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60183299 60183299 + Silent SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 60183299 60183299 T A SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known silent c.858 p.P286 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 14 7 33.33 32 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60183703 60183703 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 60183703 60183703 C T SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.1262 p.T421I 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 45 8 15.09 44 0 0.00 MS4A14 84689 genome.wustl.edu 37 11 60183756 60183756 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 60183756 60183756 G T SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.1315 p.D439Y 0.005 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 95 13 12.04 117 0 0.00 MS4A15 219995 genome.wustl.edu 37 11 60541372 60541372 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 60541372 60541372 G A SNP MS4A15 ENST00000405633 human ensembl 70_37 +1 known silent c.561 p.A187 0.040 NULL pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 31 19 38.00 72 0 0.00 MS4A2 2206 genome.wustl.edu 37 11 59860966 59860966 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 59860966 59860966 T C SNP MS4A2 ENST00000278888 human ensembl 70_37 +1 known missense c.472 p.Y158H 0.007 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 62 9 12.68 114 0 0.00 MS4A3 932 genome.wustl.edu 37 11 59828641 59828641 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 59828641 59828641 C T SNP MS4A3 ENST00000278865 human ensembl 70_37 +1 known missense c.8 p.S3F 0.144 NULL pfam_CD20-like - no_errors MS4A3 HGNC ENSG00000149516 64 15 18.99 53 0 0.00 MS4A3 932 genome.wustl.edu 37 11 59828645 59828645 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 59828645 59828645 C T SNP MS4A3 ENST00000278865 human ensembl 70_37 +1 known silent c.12 p.H4 0.000 NULL pfam_CD20-like - no_errors MS4A3 HGNC ENSG00000149516 24 12 33.33 43 0 0.00 MS4A6A 64231 genome.wustl.edu 37 11 59940572 59940572 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 59940572 59940572 G T SNP MS4A6A ENST00000323961 human ensembl 70_37 -1 known missense c.580 p.L194M 0.000 pfam_CD20-like pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 19 3 13.64 45 0 0.00 MS4A6A 64231 genome.wustl.edu 37 11 59949162 59949162 + Silent SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 11 59949162 59949162 C T SNP MS4A6A ENST00000323961 human ensembl 70_37 -1 known silent c.39 p.V13 0.000 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 46 12 20.34 184 0 0.00 MSANTD1 345222 genome.wustl.edu 37 4 3251157 3251157 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 4 3251157 3251157 C T SNP MSANTD1 ENST00000438480 human ensembl 70_37 +1 known missense c.208 p.R70C 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 53 59 52.68 41 0 0.00 MSANTD2 79684 genome.wustl.edu 37 11 124637152 124637152 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 124637152 124637152 C T SNP MSANTD2 ENST00000374979 human ensembl 70_37 -1 known missense c.1600 p.E534K 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 21 12 36.36 37 0 0.00 MSANTD2 79684 genome.wustl.edu 37 11 124637698 124637698 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 124637698 124637698 C G SNP MSANTD2 ENST00000374979 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 11 3 21.43 29 0 0.00 MSANTD4 84437 genome.wustl.edu 37 11 105881257 105881257 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 105881257 105881257 C A SNP MSANTD4 ENST00000301919 human ensembl 70_37 -1 known missense c.388 p.D130Y 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 43 16 27.12 81 0 0.00 MSC 9242 genome.wustl.edu 37 8 72754893 72754893 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 72754893 72754893 G A SNP MSC ENST00000518440 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MSC HGNC ENSG00000178860 21 28 57.14 42 0 0.00 MSC 9242 genome.wustl.edu 37 8 72756051 72756051 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 72756051 72756051 G A SNP MSC ENST00000325509 human ensembl 70_37 -1 known silent c.363 p.R121 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MSC HGNC ENSG00000178860 17 17 50.00 49 0 0.00 MSH2 4436 genome.wustl.edu 37 2 47630504 47630504 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 47630504 47630504 C G SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.174 p.F58L 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 19 8 29.63 24 0 0.00 MSH2 4436 genome.wustl.edu 37 2 47639566 47639566 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 47639566 47639566 G T SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.659 p.G220V 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 23 4 14.81 26 0 0.00 MSH2 4436 genome.wustl.edu 37 2 47703697 47703697 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 47703697 47703697 G A SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.2197 p.A733T 0.998 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 76 9 10.59 67 0 0.00 MSH2 4436 genome.wustl.edu 37 2 47705646 47705646 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 47705646 47705646 C T SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known nonsense c.2446 p.Q816* 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 123 29 19.08 172 0 0.00 MSH3 4437 genome.wustl.edu 37 5 80071547 80071547 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 80071547 80071547 G A SNP MSH3 ENST00000265081 human ensembl 70_37 +1 known missense c.2288 p.C763Y 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 4 17 80.95 40 0 0.00 MSH4 4438 genome.wustl.edu 37 1 76276488 76276488 + Missense_Mutation SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 76276488 76276488 T C SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.695 p.F232S 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 74 43 36.75 108 0 0.00 MSH4 4438 genome.wustl.edu 37 1 76280787 76280787 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 76280787 76280787 G A SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 23 8 25.81 24 0 0.00 MSH4 4438 genome.wustl.edu 37 1 76282183 76282183 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76282183 76282183 C T SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.941 p.S314L 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 23 17 42.50 38 0 0.00 MSH4 4438 genome.wustl.edu 37 1 76282203 76282203 + Missense_Mutation SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 76282203 76282203 G C SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 48 15 23.81 61 0 0.00 MSH4 4438 genome.wustl.edu 37 1 76288101 76288101 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 76288101 76288101 C G SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.997 p.H333D 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 27 12 30.77 27 0 0.00 MSH5 4439 genome.wustl.edu 37 6 31725965 31725965 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 31725965 31725965 G C SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known silent c.1089 p.L363 0.993 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 19 77 80.21 118 0 0.00 MSH5 4439 genome.wustl.edu 37 6 31729633 31729633 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 6 31729633 31729633 C T SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known silent c.2271 p.F757 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 19 30 61.22 35 0 0.00 MSH5 4439 genome.wustl.edu 37 6 31729722 31729722 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 31729722 31729722 G A SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known missense c.2360 p.R787H 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 23 19 45.24 27 0 0.00 MSH5 4439 genome.wustl.edu 37 6 31730269 31730269 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31730269 31730269 G C SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known missense c.2517 p.M839I 1.000 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 27 30 52.63 40 0 0.00 MSH6 2956 genome.wustl.edu 37 2 48012058 48012058 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 48012058 48012058 G C SNP MSH6 ENST00000493177 human ensembl 70_37 +1 putative rna NULL NULL 0.167 - - - no_errors MSH6 HGNC ENSG00000116062 21 17 44.74 40 0 0.00 MSH6 2956 genome.wustl.edu 37 2 48026985 48026985 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 48026985 48026985 G C SNP MSH6 ENST00000234420 human ensembl 70_37 +1 known silent c.1863 p.L621 0.011 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 121 46 27.54 184 0 0.00 MSH6 2956 genome.wustl.edu 37 2 48032840 48032840 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48032840 48032840 G T SNP MSH6 ENST00000234420 human ensembl 70_37 +1 known nonsense c.3640 p.E1214* 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 37 19 33.93 112 0 0.00 MSI1 4440 genome.wustl.edu 37 12 120789175 120789175 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 120789175 120789175 C T SNP MSI1 ENST00000257552 human ensembl 70_37 -1 known silent c.762 p.P254 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 24 28 53.85 38 0 0.00 MSL1 339287 genome.wustl.edu 37 17 38278923 38278923 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 38278923 38278923 G A SNP MSL1 ENST00000398532 human ensembl 70_37 +1 known missense c.58 p.E20K 0.957 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 0 8 100.00 14 0 0.00 MSL2 55167 genome.wustl.edu 37 3 135870318 135870318 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 135870318 135870318 G C SNP MSL2 ENST00000309993 human ensembl 70_37 -1 known missense c.1405 p.Q469E 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 119 34 22.22 72 0 0.00 MSL3 10943 genome.wustl.edu 37 X 11776885 11776885 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 11776885 11776885 C G SNP MSL3 ENST00000398527 human ensembl 70_37 +1 known missense c.59 p.P20R 0.000 NULL pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 67 28 29.47 103 1 0.96 MSL3 10943 genome.wustl.edu 37 X 11790741 11790741 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 11790741 11790741 G T SNP MSL3 ENST00000312196 human ensembl 70_37 +1 known silent c.1383 p.V461 0.987 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 95 22 18.80 113 0 0.00 MSL3P1 151507 genome.wustl.edu 37 2 234775110 234775110 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234775110 234775110 A G SNP MSL3P1 ENST00000438684 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors MSL3P1 HGNC ENSG00000224287 10 7 41.18 26 0 0.00 MSLN 10232 genome.wustl.edu 37 16 814672 814672 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 814672 814672 C G SNP MSLN ENST00000382862 human ensembl 70_37 +1 known missense c.326 p.S109C 0.021 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 35 11 23.91 21 0 0.00 MSLN 10232 genome.wustl.edu 37 16 815696 815696 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 815696 815696 C T SNP MSLN ENST00000382862 human ensembl 70_37 +1 known silent c.801 p.I267 0.001 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 3 2 40.00 12 0 0.00 MSLN 10232 genome.wustl.edu 37 16 816385 816385 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 816385 816385 C T SNP MSLN ENST00000382862 human ensembl 70_37 +1 known silent c.1125 p.L375 0.984 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 50 65 56.52 65 0 0.00 MSLNL 401827 genome.wustl.edu 37 16 822892 822892 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 822892 822892 C T SNP MSLNL ENST00000293892 human ensembl 70_37 -1 known missense c.2293 p.E765K 0.576 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 30 11 26.83 85 0 0.00 MSLNL 401827 genome.wustl.edu 37 16 828733 828733 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 828733 828733 C T SNP MSLNL ENST00000293892 human ensembl 70_37 -1 known nonsense c.989 p.W330* 1.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 67 25 27.17 88 0 0.00 MSMB 4477 genome.wustl.edu 37 10 51556890 51556890 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 51556890 51556890 A G SNP MSMB ENST00000474170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MSMB HGNC ENSG00000138294 29 12 29.27 38 0 0.00 MSMO1 6307 genome.wustl.edu 37 4 166254663 166254663 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 166254663 166254663 C G SNP MSMO1 ENST00000261507 human ensembl 70_37 +1 known missense c.141 p.F47L 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 50 21 29.58 39 0 0.00 MSN 4478 genome.wustl.edu 37 X 64949447 64949447 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 64949447 64949447 G A SNP MSN ENST00000360270 human ensembl 70_37 +1 known missense c.340 p.D114N 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 28 11 28.21 26 0 0.00 MSN 4478 genome.wustl.edu 37 X 64953115 64953115 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 64953115 64953115 C T SNP MSN ENST00000360270 human ensembl 70_37 +1 known silent c.768 p.V256 1.000 pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 37 8 17.78 44 0 0.00 MSN 4478 genome.wustl.edu 37 X 64958439 64958439 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64958439 64958439 G A SNP MSN ENST00000360270 human ensembl 70_37 +1 known missense c.1304 p.R435Q 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 17 8 32.00 43 0 0.00 MSR1 4481 genome.wustl.edu 37 8 16007814 16007814 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16007814 16007814 G A SNP MSR1 ENST00000262101 human ensembl 70_37 -1 known missense c.905 p.P302L 1.000 pfam_Collagen pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MSR1 HGNC ENSG00000038945 19 5 20.83 59 0 0.00 MSR1 4481 genome.wustl.edu 37 8 16032763 16032763 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16032763 16032763 T G SNP MSR1 ENST00000262101 human ensembl 70_37 -1 known missense c.150 p.K50N 0.148 prints_Macro_scav_rcpt pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MSR1 HGNC ENSG00000038945 22 15 40.54 34 0 0.00 MSRA 4482 genome.wustl.edu 37 8 10102637 10102637 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 10102637 10102637 G A SNP MSRA ENST00000317173 human ensembl 70_37 +1 known missense c.235 p.E79K 1.000 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 21 20 48.78 65 0 0.00 MSRB1 51734 genome.wustl.edu 37 16 1991208 1991208 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 16 1991208 1991208 C T SNP MSRB1 ENST00000399753 human ensembl 70_37 -1 putative missense c.254 p.R85K 0.000 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like - no_errors MSRB1 HGNC ENSG00000198736 14 16 53.33 31 0 0.00 MSRB2 22921 genome.wustl.edu 37 10 23384552 23384552 + Silent SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 10 23384552 23384552 C G SNP MSRB2 ENST00000376510 human ensembl 70_37 +1 known silent c.15 p.L5 0.012 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB2 HGNC ENSG00000148450 4 19 82.61 18 0 0.00 MSRB2 22921 genome.wustl.edu 37 10 23384576 23384576 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 10 23384576 23384576 C T SNP MSRB2 ENST00000376510 human ensembl 70_37 +1 known silent c.39 p.L13 0.001 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB2 HGNC ENSG00000148450 22 27 55.10 13 0 0.00 MSRB3 253827 genome.wustl.edu 37 12 65857049 65857049 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 65857049 65857049 G A SNP MSRB3 ENST00000355192 human ensembl 70_37 +1 known missense c.526 p.E176K 0.001 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 38 13 25.49 46 0 0.00 MST1 4485 genome.wustl.edu 37 3 49722905 49722906 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 49722905 49722906 - G INS MST1 ENST00000449682 human ensembl 70_37 -1 known frame_shift_ins c.1422_1421 p.D475fs 0.996:0.969 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 53 8 13.11 20 0 0.00 MST1 4485 genome.wustl.edu 37 3 49723358 49723358 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 49723358 49723358 C T SNP MST1 ENST00000449682 human ensembl 70_37 -1 known silent c.1185 p.T395 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 31 10 24.39 66 0 0.00 MST1 4485 genome.wustl.edu 37 3 49723520 49723520 + Silent SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49723520 49723520 A G SNP MST1 ENST00000449682 human ensembl 70_37 -1 known silent c.1122 p.R374 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 21 11 34.38 34 0 0.00 MST1 4485 genome.wustl.edu 37 3 49723542 49723542 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 49723542 49723542 G C SNP MST1 ENST00000449682 human ensembl 70_37 -1 known missense c.1100 p.A367G 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 5 4 44.44 24 0 0.00 MST1 4485 genome.wustl.edu 37 3 49724227 49724228 + Frame_Shift_Ins INS - - C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 49724227 49724228 - C INS MST1 ENST00000449682 human ensembl 70_37 -1 known frame_shift_ins c.737_736 p.D246fs 1.000:0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 89 40 31.01 115 0 0.00 MST1L 11223 genome.wustl.edu 37 1 17085322 17085322 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 17085322 17085322 C T SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.1369 p.D457N 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC ENSG00000186715 25 5 16.67 26 0 0.00 MST1L 11223 genome.wustl.edu 37 1 17085591 17085591 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17085591 17085591 C T SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.1130 p.R377H 0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC ENSG00000186715 113 22 16.30 140 0 0.00 MST1L 11223 genome.wustl.edu 37 1 17085872 17085872 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 17085872 17085872 A G SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.949 p.W317R 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC ENSG00000186715 23 9 28.12 35 0 0.00 MST1L 11223 genome.wustl.edu 37 1 17085992 17085992 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 17085992 17085992 C G SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.905 p.G302A 0.960 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC ENSG00000186715 20 22 52.38 39 0 0.00 MST1L 11223 genome.wustl.edu 37 1 17087362 17087362 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 17087362 17087362 G C SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.222 p.F74L 1.000 pfam_PAN-1_domain,smart_Pan_app,smart_Kringle,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC ENSG00000186715 157 24 13.26 203 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49924830 49924830 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924830 49924830 C A SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.4113 p.M1371I 0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 34 19 35.85 75 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49924919 49924919 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924919 49924919 C G SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.4024 p.E1342Q 0.587 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 32 11 25.58 57 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49924925 49924925 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924925 49924925 C A SNP MST1R ENST00000296474 human ensembl 70_37 -1 known nonsense c.4018 p.E1340* 0.996 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 34 12 26.09 55 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49928930 49928930 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 49928930 49928930 G C SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.3436 p.L1146V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 16 5 23.81 23 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49933981 49933981 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 49933981 49933981 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.2431 p.E811K 0.350 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pirsf_Tyr_kinase_HGF/MSP_rcpt pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 88 25 22.12 124 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49939856 49939856 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 49939856 49939856 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.1187 p.R396Q 0.736 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 72 59 45.04 117 0 0.00 MST1R 4486 genome.wustl.edu 37 3 49939929 49939929 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 49939929 49939929 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.1114 p.D372N 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 44 12 21.05 50 0 0.00 MST4 51765 genome.wustl.edu 37 X 131202297 131202297 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 131202297 131202297 T G SNP MST4 ENST00000394334 human ensembl 70_37 +1 known missense c.385 p.L129V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename ENSG00000134602 16 3 15.79 41 0 0.00 MST4 51765 genome.wustl.edu 37 X 131207060 131207060 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 131207060 131207060 G A SNP MST4 ENST00000394334 human ensembl 70_37 +1 known missense c.1165 p.E389K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename ENSG00000134602 43 25 36.76 68 0 0.00 MST4 51765 genome.wustl.edu 37 X 131208175 131208175 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 131208175 131208175 C T SNP MST4 ENST00000394334 human ensembl 70_37 +1 known silent c.1239 p.D413 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename ENSG00000134602 83 17 17.00 88 0 0.00 MSTO1 55154 genome.wustl.edu 37 1 155580427 155580427 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155580427 155580427 C T SNP MSTO1 ENST00000471209 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors MSTO1 HGNC ENSG00000125459 36 5 12.20 24 0 0.00 MSTO1 55154 genome.wustl.edu 37 1 155581080 155581080 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155581080 155581080 G C SNP MSTO1 ENST00000245564 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 superfamily_Tubulin_FtsZ_GTPase pfam_Misato_II_myosin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 64 13 16.88 55 0 0.00 MSTO1 55154 genome.wustl.edu 37 1 155716706 155716706 + Missense_Mutation SNP T T C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 155716706 155716706 T C SNP MSTO1 ENST00000538143 human ensembl 70_37 +1 known missense c.410 p.L137P 0.000 NULL pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 29 7 19.44 23 0 0.00 MSX1 4487 genome.wustl.edu 37 4 4864435 4864435 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 4864435 4864435 G A SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known silent c.477 p.L159 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 11 14 56.00 16 0 0.00 MSX1 4487 genome.wustl.edu 37 4 4864524 4864524 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 4864524 4864524 G A SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known missense c.566 p.R189H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 26 11 29.73 35 0 0.00 MSX1 4487 genome.wustl.edu 37 4 4864729 4864729 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 4864729 4864729 C T SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known silent c.771 p.L257 0.092 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 0 4 100.00 14 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 8701 8701 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b MT 8701 8701 A G SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.175 p.T59A NULL pfam_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 11 2 15.38 43 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 8715 8715 + Silent SNP T T C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 8715 8715 T C SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known silent c.189 p.T63 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 1 2 66.67 22 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 8967 8967 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd MT 8967 8967 C A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.441 p.I147M NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 4 2 33.33 19 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 9055 9055 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 9055 9055 G A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.529 p.A177T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 76 10 11.63 242 1 0.41 MT-ATP6 4508 genome.wustl.edu 37 MT 9055 9055 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 MT 9055 9055 G A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.529 p.A177T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 5 2 28.57 47 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 9144 9144 + Silent SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 9144 9144 C A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known silent c.618 p.V206 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 9 2 18.18 70 0 0.00 MT-ATP6 4508 genome.wustl.edu 37 MT 9176 9176 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 MT 9176 9176 T C SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.650 p.L217P NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 8 2 20.00 36 0 0.00 MT-ATP8 4509 genome.wustl.edu 37 MT 8517 8517 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e MT 8517 8517 G A SNP MT-ATP8 ENST00000361851 human ensembl 70_37 +1 known nonsense c.152 p.W51* NULL pfam_ATPase_F0-cplx_su8_mt_metazoan pfam_ATPase_F0-cplx_su8_mt_metazoan - no_errors MT-ATP8 HGNC ENSG00000228253 55 23 29.11 191 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6045 6045 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd MT 6045 6045 C T SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.142 p.L48 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 21 4 16.00 49 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6297 6297 + Silent SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 MT 6297 6297 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.394 p.L132 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 1295 704 35.18 542 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6361 6361 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 MT 6361 6361 C T SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.458 p.A153V NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 2 2 50.00 11 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6474 6474 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 6474 6474 A G SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.571 p.T191A NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 8 2 20.00 50 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6513 6513 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 MT 6513 6513 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.610 p.A204T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 3 2 40.00 16 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6864 6864 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 6864 6864 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.961 p.F321L NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 19 43 69.35 118 1 0.84 MT-CO1 4512 genome.wustl.edu 37 MT 6912 6912 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd MT 6912 6912 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1009 p.A337T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 1 2 66.67 14 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 6999 6999 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 MT 6999 6999 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1096 p.V366M NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 1560 302 16.22 2385 1 0.04 MT-CO1 4512 genome.wustl.edu 37 MT 7156 7156 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 MT 7156 7156 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1253 p.F418S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 1 3 75.00 50 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 7220 7220 + Silent SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 7220 7220 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.1317 p.R439 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 18 2 10.00 105 0 0.00 MT-CO1 4512 genome.wustl.edu 37 MT 7323 7324 + Frame_Shift_Ins INS - - T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 MT 7323 7324 - T INS MT-CO1 ENST00000361624 human ensembl 70_37 +1 known frame_shift_ins c.1420_1421 p.E474fs NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 27 25 48.08 54 0 0.00 MT-CO2 4513 genome.wustl.edu 37 MT 7637 7637 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 MT 7637 7637 G A SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.52 p.E18K NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 172 362 67.79 579 0 0.00 MT-CO2 4513 genome.wustl.edu 37 MT 7776 7776 + Missense_Mutation SNP T T C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 MT 7776 7776 T C SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.191 p.V64A NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 482 131 21.37 544 1 0.18 MT-CO2 4513 genome.wustl.edu 37 MT 7854 7854 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 MT 7854 7854 T G SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.269 p.V90G NULL superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 67 218 76.49 209 0 0.00 MT-CO2 4513 genome.wustl.edu 37 MT 8119 8119 + Silent SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad MT 8119 8119 T C SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known silent c.534 p.R178 NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 1 11 91.67 25 0 0.00 MT-ND4L 4539 genome.wustl.edu 37 MT 10591 10591 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 MT 10591 10591 T C SNP MT-ND4L ENST00000361335 human ensembl 70_37 +1 known missense c.122 p.F41S NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 10 4 28.57 9 0 0.00 MT-ND4L 4539 genome.wustl.edu 37 MT 10663 10663 + Missense_Mutation SNP T T C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 MT 10663 10663 T C SNP MT-ND4L ENST00000361335 human ensembl 70_37 +1 known missense c.194 p.V65A NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 4 7 63.64 10 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12397 12397 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 MT 12397 12397 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.61 p.T21A NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 5 2 28.57 10 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12552 12552 + Silent SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 12552 12552 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.216 p.Q72 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 4 2 33.33 19 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12562 12562 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 12562 12562 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.226 p.L76F NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 2 2 40.00 20 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12609 12609 + Silent SNP T T C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 MT 12609 12609 T C SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.273 p.P91 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 2 40.00 30 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12633 12633 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 12633 12633 C A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.297 p.S99 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 53 10 15.87 116 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12684 12684 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 MT 12684 12684 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.348 p.Q116 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 5 3 37.50 16 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12705 12705 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 MT 12705 12705 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.369 p.I123 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 3 50.00 15 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12925 12925 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea MT 12925 12925 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.589 p.D197N NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 33 6 15.00 12 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12962 12962 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e MT 12962 12962 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.626 p.S209I NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 7 2 22.22 26 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 12994 12994 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 MT 12994 12994 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.658 p.A220T NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 2 40.00 30 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13056 13056 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 MT 13056 13056 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.720 p.P240 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 4 14 77.78 11 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13267 13267 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 MT 13267 13267 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known nonsense c.931 p.G311* NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 0 4 100.00 9 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13288 13288 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db MT 13288 13288 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.952 p.G318S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 10 4 28.57 20 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13359 13359 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb MT 13359 13359 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.1023 p.M341 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 4 2 33.33 22 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13361 13361 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 MT 13361 13361 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1025 p.C342Y NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 2 40.00 22 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13393 13393 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 MT 13393 13393 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1057 p.E353K NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 31 91.18 21 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13445 13445 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 MT 13445 13445 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1109 p.S370L NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 1750 1418 44.73 2146 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13466 13466 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 MT 13466 13466 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1130 p.S377N NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 0 8 100.00 27 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13513 13513 + Missense_Mutation SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 MT 13513 13513 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1177 p.D393Y NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 8 2 20.00 37 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13688 13688 + Missense_Mutation SNP T T C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a MT 13688 13688 T C SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1352 p.L451P NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 2 16 88.89 23 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13780 13780 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 13780 13780 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1444 p.I482V NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 44 6 11.76 111 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13825 13825 + Nonsense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 MT 13825 13825 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known nonsense c.1489 p.G497* NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 78 9 10.34 229 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13826 13826 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd MT 13826 13826 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1490 p.G497V NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 2 40.00 19 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13843 13843 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 MT 13843 13843 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1507 p.D503N NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 5 7 58.33 13 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13866 13866 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 MT 13866 13866 A C SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1530 p.K510N NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 1 5 83.33 37 0 0.00 MT-ND5 4540 genome.wustl.edu 37 MT 13958 13958 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 MT 13958 13958 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1622 p.G541D NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 3 21 87.50 32 0 0.00 MT-ND6 4541 genome.wustl.edu 37 MT 14180 14180 + Missense_Mutation SNP T T C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 MT 14180 14180 T C SNP MT-ND6 ENST00000361681 human ensembl 70_37 -1 known missense c.494 p.Y165C NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 7 11 61.11 41 0 0.00 MT-ND6 4541 genome.wustl.edu 37 MT 14530 14531 + Frame_Shift_Ins INS - - C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 MT 14530 14531 - C INS MT-ND6 ENST00000361681 human ensembl 70_37 -1 known frame_shift_ins c.144_143 p.G49fs NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 101 20 16.53 152 0 0.00 MT-ND6 4541 genome.wustl.edu 37 MT 14544 14544 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 MT 14544 14544 G A SNP MT-ND6 ENST00000361681 human ensembl 70_37 -1 known silent c.130 p.L44 NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 14 12 46.15 8 0 0.00 MT1E 4493 genome.wustl.edu 37 16 56660658 56660658 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 56660658 56660658 C T SNP MT1E ENST00000330439 human ensembl 70_37 +1 putative silent c.309 p.F103 0.000 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT1E HGNC ENSG00000169715 64 38 37.25 99 0 0.00 MT1E 4493 genome.wustl.edu 37 16 56660709 56660709 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 56660709 56660709 G A SNP MT1E ENST00000330439 human ensembl 70_37 +1 putative silent c.360 p.L120 0.000 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT1E HGNC ENSG00000169715 24 41 63.08 78 0 0.00 MT1H 4496 genome.wustl.edu 37 16 56704434 56704434 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 56704434 56704434 C T SNP MT1H ENST00000332374 human ensembl 70_37 +1 known silent c.45 p.C15 0.053 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC ENSG00000205358 39 40 50.63 40 0 0.00 MT1H 4496 genome.wustl.edu 37 16 56704827 56704827 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 56704827 56704827 C A SNP MT1H ENST00000332374 human ensembl 70_37 +1 known missense c.112 p.P38T 0.967 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC ENSG00000205358 33 32 49.23 103 0 0.00 MT1JP 4498 genome.wustl.edu 37 16 56670196 56670196 + RNA SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 56670196 56670196 G C SNP MT1JP ENST00000564564 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 21 10 32.26 34 0 0.00 MTA1 9112 genome.wustl.edu 37 14 105916512 105916512 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 105916512 105916512 C T SNP MTA1 ENST00000331320 human ensembl 70_37 +1 known missense c.359 p.T120M 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 87 17 16.35 56 0 0.00 MTA1 9112 genome.wustl.edu 37 14 105930894 105930894 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 105930894 105930894 G A SNP MTA1 ENST00000331320 human ensembl 70_37 +1 known missense c.1334 p.R445H 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 44 16 26.67 86 0 0.00 MTA2 9219 genome.wustl.edu 37 11 62363281 62363281 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62363281 62363281 C G SNP MTA2 ENST00000278823 human ensembl 70_37 -1 known missense c.1197 p.K399N 1.000 pfam_Znf_GATA,smart_Znf_GATA pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 31 24 43.64 51 0 0.00 MTBP 27085 genome.wustl.edu 37 8 121553455 121553455 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 121553455 121553455 G A SNP MTBP ENST00000519841 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MTBP HGNC ENSG00000172167 39 29 42.65 28 0 0.00 MTCH1 23787 genome.wustl.edu 37 6 36949389 36949389 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36949389 36949389 G C SNP MTCH1 ENST00000373627 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 34 6 15.00 30 0 0.00 MTCH1 23787 genome.wustl.edu 37 6 36949434 36949434 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 36949434 36949434 C T SNP MTCH1 ENST00000373627 human ensembl 70_37 -1 known silent c.336 p.P112 0.995 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 23 11 32.35 25 0 0.00 MTDH 92140 genome.wustl.edu 37 8 98699729 98699729 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 98699729 98699729 C G SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.641 p.S214C 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 40 9 18.37 13 0 0.00 MTDH 92140 genome.wustl.edu 37 8 98711993 98711993 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 98711993 98711993 G A SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.1060 p.E354K 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 86 17 16.50 84 0 0.00 MTDH 92140 genome.wustl.edu 37 8 98718853 98718853 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 98718853 98718853 G C SNP MTDH ENST00000336273 human ensembl 70_37 +1 known splice_site c.1148-1 e8-1 1.000 - - - no_errors MTDH HGNC ENSG00000147649 54 19 26.03 78 0 0.00 MTDH 92140 genome.wustl.edu 37 8 98735262 98735262 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 98735262 98735262 G C SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.1677 p.Q559H 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 62 8 11.43 84 0 0.00 MTERF 7978 genome.wustl.edu 37 7 91502974 91502974 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91502974 91502974 G A SNP MTERF ENST00000351870 human ensembl 70_37 -1 known silent c.1134 p.I378 0.001 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 27 14 34.15 47 0 0.00 MTERF 7978 genome.wustl.edu 37 7 91504019 91504019 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 91504019 91504019 C A SNP MTERF ENST00000351870 human ensembl 70_37 -1 known missense c.89 p.R30I 0.996 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 13 11 45.83 34 0 0.00 MTERFD2 130916 genome.wustl.edu 37 2 242026909 242026909 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 242026909 242026909 C T SNP MTERFD2 ENST00000455202 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MTERFD2 HGNC ENSG00000122085 40 24 37.50 66 0 0.00 MTERFD2 130916 genome.wustl.edu 37 2 242038897 242038897 + Missense_Mutation SNP A A G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 2 242038897 242038897 A G SNP MTERFD2 ENST00000241527 human ensembl 70_37 -1 known missense c.434 p.L145S 0.399 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 21 3 12.50 35 0 0.00 MTF1 4520 genome.wustl.edu 37 1 38289394 38289394 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 38289394 38289394 G A SNP MTF1 ENST00000373036 human ensembl 70_37 -1 known missense c.1159 p.P387S 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 69 22 24.18 120 0 0.00 MTF1 4520 genome.wustl.edu 37 1 38289467 38289467 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 38289467 38289467 G C SNP MTF1 ENST00000373036 human ensembl 70_37 -1 known silent c.1086 p.L362 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 80 17 17.53 87 0 0.00 MTF2 22823 genome.wustl.edu 37 1 93583965 93583965 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 93583965 93583965 A G SNP MTF2 ENST00000370298 human ensembl 70_37 +1 known silent c.696 p.Q232 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 26 20 43.48 56 0 0.00 MTFP1 51537 genome.wustl.edu 37 22 30822800 30822800 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 30822800 30822800 G A SNP MTFP1 ENST00000266263 human ensembl 70_37 +1 known missense c.163 p.D55N 1.000 pfam_Mitochondrial_18_kDa_protein_ pfam_Mitochondrial_18_kDa_protein_ - no_errors MTFP1 HGNC ENSG00000242114 96 35 26.72 153 0 0.00 MTFR1 9650 genome.wustl.edu 37 8 66617086 66617086 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 66617086 66617086 C T SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.439 p.L147F 0.995 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 12 9 42.86 33 0 0.00 MTFR1 9650 genome.wustl.edu 37 8 66619257 66619257 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 66619257 66619257 C G SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.530 p.S177C 0.110 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 48 8 14.29 95 0 0.00 MTFR1 9650 genome.wustl.edu 37 8 66619462 66619462 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 66619462 66619462 G A SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.735 p.M245I 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 39 10 20.41 35 0 0.00 MTHFD1 4522 genome.wustl.edu 37 14 64898256 64898256 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 64898256 64898256 C T SNP MTHFD1 ENST00000216605 human ensembl 70_37 +1 known missense c.1486 p.L496F 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 7 11 61.11 28 0 0.00 MTHFD1L 25902 genome.wustl.edu 37 6 151286115 151286115 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 151286115 151286115 G A SNP MTHFD1L ENST00000367321 human ensembl 70_37 +1 known missense c.1955 p.G652D 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 11 5 31.25 29 0 0.00 MTHFD1L 25902 genome.wustl.edu 37 6 151413669 151413669 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 151413669 151413669 G C SNP MTHFD1L ENST00000367321 human ensembl 70_37 +1 known missense c.2914 p.E972Q 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 20 16 44.44 37 0 0.00 MTHFD2 10797 genome.wustl.edu 37 2 74425838 74425838 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74425838 74425838 C G SNP MTHFD2 ENST00000394053 human ensembl 70_37 +1 known missense c.70 p.R24G 0.000 NULL pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 17 13 43.33 17 0 0.00 MTHFD2 10797 genome.wustl.edu 37 2 74437150 74437150 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 74437150 74437150 C T SNP MTHFD2 ENST00000394053 human ensembl 70_37 +1 known missense c.644 p.T215I 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 32 18 36.00 76 0 0.00 MTHFD2L 441024 genome.wustl.edu 37 4 75026396 75026397 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 75026396 75026397 - A INS MTHFD2L ENST00000461101 human ensembl 70_37 +1 putative rna NULL NULL 0.001:0.000 - - - no_errors MTHFD2L HGNC ENSG00000163738 41 20 32.79 53 0 0.00 MTHFD2L 441024 genome.wustl.edu 37 4 75067078 75067078 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 75067078 75067078 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known missense c.703 p.R235W 0.931 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 47 16 25.40 53 0 0.00 MTHFD2L 441024 genome.wustl.edu 37 4 75147263 75147263 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 75147263 75147263 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 88 19 17.76 87 0 0.00 MTHFD2L 441024 genome.wustl.edu 37 4 75147263 75147263 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 75147263 75147263 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 11 20 64.52 43 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11854118 11854118 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 11854118 11854118 G A SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.1499 p.P500L 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 18 18 50.00 28 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11854118 11854118 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 11854118 11854118 G A SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.1499 p.P500L 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 78 50 39.06 137 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11854494 11854495 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 11854494 11854495 - C INS MTHFR ENST00000376583 human ensembl 70_37 -1 known frame_shift_ins c.1391_1390 p.E464fs 1.000:1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 43 14 24.56 54 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11855208 11855208 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 11855208 11855208 C T SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known silent c.1101 p.E367 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 79 19 19.39 126 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11861360 11861360 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 11861360 11861360 C T SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.456 p.M152I 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 42 21 33.33 57 0 0.00 MTHFR 4524 genome.wustl.edu 37 1 11863158 11863158 + Missense_Mutation SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 11863158 11863158 T C SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.139 p.R47G 0.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 37 24 38.71 32 0 0.00 MTIF2 4528 genome.wustl.edu 37 2 55470638 55470638 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 55470638 55470638 C T SNP MTIF2 ENST00000263629 human ensembl 70_37 -1 known missense c.1478 p.R493Q 0.678 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 75 41 35.34 83 0 0.00 MTIF2 4528 genome.wustl.edu 37 2 55479767 55479767 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55479767 55479767 C A SNP MTIF2 ENST00000263629 human ensembl 70_37 -1 known missense c.687 p.K229N 1.000 pfam_EF_GTP-bd_dom,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 8 3 27.27 11 0 0.00 MTL5 9633 genome.wustl.edu 37 11 68512461 68512461 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 68512461 68512461 G C SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known nonsense c.749 p.S250* 1.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 90 10 10.00 115 0 0.00 MTL5 9633 genome.wustl.edu 37 11 68512505 68512505 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 68512505 68512505 G C SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known silent c.705 p.L235 0.814 superfamily_Thionin pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 51 36 41.38 49 0 0.00 MTL5 9633 genome.wustl.edu 37 11 68517982 68517982 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 68517982 68517982 G A SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known silent c.147 p.F49 0.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 46 17 26.98 96 0 0.00 MTM1 4534 genome.wustl.edu 37 X 149767133 149767133 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 149767133 149767133 T G SNP MTM1 ENST00000370396 human ensembl 70_37 +1 known missense c.214 p.L72V 1.000 pfam_GRAM,smart_GRAM pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 30 17 36.17 79 0 0.00 MTMR1 8776 genome.wustl.edu 37 X 149905769 149905769 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149905769 149905769 C T SNP MTMR1 ENST00000445323 human ensembl 70_37 +1 known missense c.1322 p.S441F 0.993 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC ENSG00000063601 68 25 26.88 67 0 0.00 MTMR1 8776 genome.wustl.edu 37 X 149919523 149919523 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 149919523 149919523 C T SNP MTMR1 ENST00000451863 human ensembl 70_37 +1 known nonsense c.1678 p.R560* 0.000 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC ENSG00000063601 21 12 36.36 21 0 0.00 MTMR1 8776 genome.wustl.edu 37 X 149931144 149931144 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 149931144 149931144 C A SNP MTMR1 ENST00000445323 human ensembl 70_37 +1 known nonsense c.1964 p.S655* 0.865 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC ENSG00000063601 89 19 17.59 91 0 0.00 MTMR10 54893 genome.wustl.edu 37 15 31239429 31239429 + Silent SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 31239429 31239429 G T SNP MTMR10 ENST00000435680 human ensembl 70_37 -1 known silent c.1452 p.S484 0.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR10 HGNC ENSG00000166912 39 28 41.79 71 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149900659 149900659 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 149900659 149900659 G A SNP MTMR11 ENST00000466496 human ensembl 70_37 -1 known rna NULL NULL 0.601 - - - no_errors MTMR11 HGNC ENSG00000014914 33 24 42.11 49 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149900986 149900986 + RNA DEL A A - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 149900986 149900986 A - DEL MTMR11 ENST00000466496 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 45 6 11.76 30 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149902287 149902287 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 149902287 149902287 G C SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.1617 p.H539Q 0.996 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC ENSG00000014914 213 76 26.30 203 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149903282 149903282 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 149903282 149903282 G A SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.1160 p.S387L 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC ENSG00000014914 14 10 41.67 20 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149906184 149906184 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 149906184 149906184 G C SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.583 p.L195V 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC ENSG00000014914 36 9 20.00 26 0 0.00 MTMR11 10903 genome.wustl.edu 37 1 149908229 149908229 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 149908229 149908229 G C SNP MTMR11 ENST00000482025 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MTMR11 HGNC ENSG00000014914 14 5 26.32 22 0 0.00 MTMR14 64419 genome.wustl.edu 37 3 9711148 9711148 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 9711148 9711148 G T SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known missense c.526 p.D176Y 0.991 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 28 17 37.78 62 0 0.00 MTMR14 64419 genome.wustl.edu 37 3 9743521 9743521 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9743521 9743521 C T SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known missense c.1817 p.S606L 0.979 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 60 22 26.83 59 0 0.00 MTMR2 8898 genome.wustl.edu 37 11 95598789 95598789 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 95598789 95598789 G C SNP MTMR2 ENST00000346299 human ensembl 70_37 -1 known missense c.238 p.P80A 1.000 pfam_GRAM,smart_GRAM pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR2 HGNC ENSG00000087053 19 4 17.39 30 0 0.00 MTMR3 8897 genome.wustl.edu 37 22 30394787 30394787 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 30394787 30394787 G A SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known silent c.498 p.E166 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 16 94 85.45 53 0 0.00 MTMR3 8897 genome.wustl.edu 37 22 30414060 30414060 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 30414060 30414060 C T SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known missense c.1819 p.R607W 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 41 7 14.58 51 0 0.00 MTMR3 8897 genome.wustl.edu 37 22 30415483 30415483 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 30415483 30415483 G C SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known missense c.1835 p.R612T 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 24 11 31.43 29 0 0.00 MTMR3 8897 genome.wustl.edu 37 22 30415898 30415898 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 22 30415898 30415898 G A SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known silent c.2250 p.L750 0.001 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 28 22 44.00 30 0 0.00 MTMR4 9110 genome.wustl.edu 37 17 56572509 56572509 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56572509 56572509 C G SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known silent c.2994 p.L998 0.993 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 33 41 55.41 58 0 0.00 MTMR4 9110 genome.wustl.edu 37 17 56572621 56572621 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 56572621 56572621 G A SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known missense c.2882 p.S961L 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 22 10 31.25 38 0 0.00 MTMR4 9110 genome.wustl.edu 37 17 56581221 56581221 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 56581221 56581221 G A SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known silent c.1695 p.L565 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 45 6 11.76 50 0 0.00 MTMR4 9110 genome.wustl.edu 37 17 56582214 56582214 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56582214 56582214 C G SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known missense c.1225 p.D409H 0.998 pfscan_Tyr/Dual-specificity_Pase pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC ENSG00000108389 54 7 11.48 64 0 0.00 MTMR6 9107 genome.wustl.edu 37 13 25840278 25840278 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 25840278 25840278 G C SNP MTMR6 ENST00000381801 human ensembl 70_37 -1 known missense c.451 p.R151G 0.999 NULL pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 30 17 36.17 40 0 0.00 MTMR7 9108 genome.wustl.edu 37 8 17188743 17188743 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 8 17188743 17188743 C T SNP MTMR7 ENST00000180173 human ensembl 70_37 -1 known missense c.781 p.D261N 1.000 pfam_Myotub-related pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR7 HGNC ENSG00000003987 13 15 53.57 36 0 0.00 MTMR8 55613 genome.wustl.edu 37 X 63564952 63564952 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 63564952 63564952 G A SNP MTMR8 ENST00000374852 human ensembl 70_37 -1 known missense c.838 p.R280W 0.997 smart_Tyr_Pase_cat pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 74 23 23.71 21 0 0.00 MTMR9 66036 genome.wustl.edu 37 8 11162520 11162520 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 8 11162520 11162520 G A SNP MTMR9 ENST00000221086 human ensembl 70_37 +1 known silent c.588 p.G196 0.999 pfam_Myotub-related pfam_Myotub-related - no_errors MTMR9 HGNC ENSG00000104643 3 18 85.71 53 0 0.00 MTMR9 66036 genome.wustl.edu 37 8 11180146 11180146 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 11180146 11180146 G A SNP MTMR9 ENST00000221086 human ensembl 70_37 +1 known missense c.1499 p.R500H 0.999 NULL pfam_Myotub-related - no_errors MTMR9 HGNC ENSG00000104643 54 28 34.15 106 0 0.00 MTND1P15 100288998 genome.wustl.edu 37 17 22024328 22024328 + RNA SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 22024328 22024328 C G SNP MTND1P15 ENST00000579693 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MTND1P15 HGNC ENSG00000264168 30 21 41.18 83 0 0.00 MTND1P15 100288998 genome.wustl.edu 37 17 22024729 22024729 + RNA SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 22024729 22024729 T C SNP MTND1P15 ENST00000579693 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MTND1P15 HGNC ENSG00000264168 10 4 28.57 11 0 0.00 MTNR1A 4543 genome.wustl.edu 37 4 187455702 187455702 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 187455702 187455702 A G SNP MTNR1A ENST00000307161 human ensembl 70_37 -1 known missense c.194 p.F65S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 3 4 57.14 10 0 0.00 MTNR1B 4544 genome.wustl.edu 37 11 92714917 92714917 + Missense_Mutation SNP C C A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 92714917 92714917 C A SNP MTNR1B ENST00000257068 human ensembl 70_37 +1 known missense c.528 p.F176L 0.978 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 42 13 23.64 44 0 0.00 MTNR1B 4544 genome.wustl.edu 37 11 92714991 92714991 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92714991 92714991 C T SNP MTNR1B ENST00000257068 human ensembl 70_37 +1 known missense c.602 p.T201M 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 55 10 15.38 48 0 0.00 MTO1 25821 genome.wustl.edu 37 6 74183257 74183257 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 74183257 74183257 G A SNP MTO1 ENST00000415954 human ensembl 70_37 +1 known silent c.705 p.L235 1.000 pfam_GIDA-rel,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 57 50 46.73 99 0 0.00 MTO1 25821 genome.wustl.edu 37 6 74192328 74192328 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 74192328 74192328 G T SNP MTO1 ENST00000415954 human ensembl 70_37 +1 known missense c.1742 p.R581I 0.000 NULL pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 17 15 46.88 35 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11168296 11168296 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 11168296 11168296 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.7576 p.E2526K 1.000 pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 37 7 15.56 46 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11174382 11174382 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 11174382 11174382 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.7293 p.L2431 0.990 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 20 4 16.67 21 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11174420 11174420 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 11174420 11174420 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.7255 p.E2419K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 10 10 50.00 38 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11181396 11181396 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 11181396 11181396 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6840 p.L2280 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 46 16 25.81 71 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11181396 11181396 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 11181396 11181396 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6840 p.L2280 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 45 21 31.82 55 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11182063 11182063 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 11182063 11182063 G C SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6783 p.L2261 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 118 30 20.27 131 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11182125 11182125 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11182125 11182125 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6721 p.P2241S 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 96 44 31.43 73 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11182129 11182129 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11182129 11182129 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6717 p.W2239C 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 91 41 31.06 69 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11184573 11184573 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6644 p.S2215F 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 40 23 36.51 67 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11184573 11184573 G T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6644 p.S2215Y 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 17 11 39.29 59 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11184646 11184646 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 11184646 11184646 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6571 p.D2191H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 78 33 28.95 110 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11184661 11184661 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11184661 11184661 G C SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6556 p.L2186V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 29 13 30.95 36 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11188178 11188178 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11188178 11188178 G A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.5916 p.L1972 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 21 7 25.00 25 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11190804 11190804 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 11190804 11190804 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.5395 p.E1799K 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 34 26 43.33 52 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11217277 11217277 + Missense_Mutation SNP C C A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 11217277 11217277 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.4401 p.M1467I 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 41 13 24.07 57 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11273502 11273502 + Missense_Mutation SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 11273502 11273502 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.3239 p.R1080P 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 21 23 52.27 42 0 0.00 MTOR 2475 genome.wustl.edu 37 1 11303244 11303244 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 11303244 11303244 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.1339 p.E447Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 23 13 36.11 51 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30602411 30602411 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 30602411 30602411 G C SNP MTPAP ENST00000488290 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTPAP HGNC ENSG00000107951 43 10 18.87 54 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30602411 30602411 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 30602411 30602411 G C SNP MTPAP ENST00000488290 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTPAP HGNC ENSG00000107951 67 12 15.19 35 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30604919 30604919 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 30604919 30604919 G A SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known silent c.1749 p.F583 1.000 pfam_PAP_assoc pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 68 17 19.77 45 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30615518 30615518 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 30615518 30615518 G A SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known missense c.1217 p.S406L 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 76 9 10.59 103 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30654113 30654113 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30654113 30654113 C T SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known silent c.150 p.S50 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 70 41 36.94 124 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30654212 30654212 + Silent SNP G G C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 10 30654212 30654212 G C SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known silent c.51 p.L17 0.015 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 38 8 17.39 10 0 0.00 MTPAP 55149 genome.wustl.edu 37 10 30657359 30657359 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30657359 30657359 C A SNP MTPAP ENST00000471055 human ensembl 70_37 -1 known rna NULL NULL 0.061 - - - no_errors MTPAP HGNC ENSG00000107951 14 7 33.33 38 0 0.00 MTR 4548 genome.wustl.edu 37 1 236958908 236958908 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 236958908 236958908 C T SNP MTR ENST00000418145 human ensembl 70_37 +1 known silent c.288 p.L96 0.000 pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pfscan_S_MeTrfase - no_errors MTR HGNC ENSG00000116984 46 6 11.54 74 0 0.00 MTR 4548 genome.wustl.edu 37 1 236973894 236973894 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 236973894 236973894 C T SNP MTR ENST00000366577 human ensembl 70_37 +1 known silent c.501 p.I167 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 91 28 23.53 129 0 0.00 MTR 4548 genome.wustl.edu 37 1 236995308 236995309 + Frame_Shift_Ins INS - - CATTT TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 236995308 236995309 - CATTT INS MTR ENST00000366577 human ensembl 70_37 +1 known frame_shift_ins c.1118_1119 p.G375fs 1.000:1.000 pfam_Pterin-binding,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 14 11 44.00 27 0 0.00 MTR 4548 genome.wustl.edu 37 1 237013777 237013777 + Missense_Mutation SNP A A C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 237013777 237013777 A C SNP MTR ENST00000366577 human ensembl 70_37 +1 known missense c.1649 p.H550P 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 75 10 11.76 76 0 0.00 MTRF1 9617 genome.wustl.edu 37 13 41814474 41814474 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 41814474 41814474 C T SNP MTRF1 ENST00000430347 human ensembl 70_37 -1 known missense c.832 p.E278K 0.999 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 59 9 13.24 64 0 0.00 MTRF1 9617 genome.wustl.edu 37 13 41834684 41834684 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 41834684 41834684 G T SNP MTRF1 ENST00000430347 human ensembl 70_37 -1 known nonsense c.399 p.Y133* 0.997 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 53 14 20.59 64 0 0.00 MTRF1L 54516 genome.wustl.edu 37 6 153310988 153310988 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 153310988 153310988 G A SNP MTRF1L ENST00000461949 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MTRF1L HGNC ENSG00000112031 18 12 40.00 40 0 0.00 MTRNR2L2 100462981 genome.wustl.edu 37 3 96336107 96336107 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 96336107 96336107 C T SNP MTRNR2L2 ENST00000600213 human ensembl 70_37 -1 known missense c.11 p.R4Q 1.000 NULL NULL - no_errors MTRNR2L2 HGNC ENSG00000269028 32 7 17.95 24 0 0.00 MTRR 4552 genome.wustl.edu 37 5 7870902 7870902 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 7870902 7870902 G A SNP MTRR ENST00000264668 human ensembl 70_37 +1 known missense c.76 p.E26K 0.003 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 28 22 44.00 63 0 0.00 MTSS1 9788 genome.wustl.edu 37 8 125565852 125565852 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 125565852 125565852 C G SNP MTSS1 ENST00000518547 human ensembl 70_37 -1 known missense c.1649 p.R550T 0.837 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 47 7 12.96 82 0 0.00 MTSS1L 92154 genome.wustl.edu 37 16 70697638 70697638 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 70697638 70697638 C T SNP MTSS1L ENST00000338779 human ensembl 70_37 -1 known missense c.2186 p.R729H 0.966 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 5 4 44.44 8 0 0.00 MTSS1L 92154 genome.wustl.edu 37 16 70697963 70697963 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70697963 70697963 C T SNP MTSS1L ENST00000338779 human ensembl 70_37 -1 known missense c.1861 p.E621K 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 24 37 60.66 72 0 0.00 MTTP 4547 genome.wustl.edu 37 4 100516030 100516030 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 100516030 100516030 G A SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.899 p.G300E 0.506 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 19 31 62.00 42 0 0.00 MTTP 4547 genome.wustl.edu 37 4 100528037 100528037 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 4 100528037 100528037 G A SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.1477 p.A493T 0.967 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 13 8 38.10 40 0 0.00 MTTP 4547 genome.wustl.edu 37 4 100530023 100530023 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 100530023 100530023 C T SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.1658 p.S553F 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 16 17 51.52 42 0 0.00 MTTP 4547 genome.wustl.edu 37 4 100534168 100534168 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 100534168 100534168 C G SNP MTTP ENST00000265517 human ensembl 70_37 +1 known silent c.2088 p.L696 1.000 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 59 43 42.16 135 0 0.00 MTTP 4547 genome.wustl.edu 37 4 100542386 100542386 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 100542386 100542386 C T SNP MTTP ENST00000265517 human ensembl 70_37 +1 known silent c.2511 p.F837 0.998 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 180 44 19.64 259 0 0.00 MTUS1 57509 genome.wustl.edu 37 8 17612715 17612715 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 17612715 17612715 G C SNP MTUS1 ENST00000262102 human ensembl 70_37 -1 known missense c.602 p.S201C 0.004 NULL superfamily_Ferritin/RNR-like - no_errors MTUS1 HGNC ENSG00000129422 12 2 14.29 30 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 29599166 29599166 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 29599166 29599166 G A SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.361 p.E121K 0.031 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 27 9 25.00 18 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 29599910 29599910 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 13 29599910 29599910 G T SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.1105 p.A369S 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 7 7 50.00 13 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 29600683 29600683 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 29600683 29600683 G C SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.1878 p.E626D 0.694 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 30 26 46.43 54 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 30054349 30054349 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 30054349 30054349 G A SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.3277 p.E1093K 0.994 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 64 22 25.58 92 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 30054388 30054388 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 13 30054388 30054388 G A SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.3316 p.E1106K 0.993 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 31 34 52.31 72 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 30071399 30071399 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 30071399 30071399 C T SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known nonsense c.3634 p.Q1212* 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 50 10 16.67 83 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 30071452 30071452 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 30071452 30071452 G C SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.3687 p.K1229N 0.977 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 81 17 17.35 78 0 0.00 MTUS2 23281 genome.wustl.edu 37 13 30077199 30077199 + Silent SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 13 30077199 30077199 G A SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known silent c.3996 p.L1332 0.994 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 43 26 37.68 93 0 0.00 MTUS2-AS1 100874107 genome.wustl.edu 37 13 30059412 30059412 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 30059412 30059412 C A SNP MTUS2-AS1 ENST00000323380 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MTUS2-AS1 HGNC ENSG00000179141 21 30 58.82 57 0 0.00 MTUS2-AS1 100874107 genome.wustl.edu 37 13 30061712 30061712 + RNA SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 30061712 30061712 G C SNP MTUS2-AS1 ENST00000323380 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTUS2-AS1 HGNC ENSG00000179141 76 17 18.28 142 0 0.00 MTX1 4580 genome.wustl.edu 37 1 155180435 155180435 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155180435 155180435 G C SNP MTX1 ENST00000481771 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MTX1 HGNC ENSG00000173171 58 11 15.94 82 0 0.00 MTX2 10651 genome.wustl.edu 37 2 177188191 177188191 + Silent SNP T T G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 177188191 177188191 T G SNP MTX2 ENST00000249442 human ensembl 70_37 +1 known silent c.207 p.S69 1.000 pfam_Tom37/metaxin,superfamily_Thioredoxin-like_fold pfam_Tom37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 45 12 21.05 32 0 0.00 MUC1 4582 genome.wustl.edu 37 1 155161913 155161913 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155161913 155161913 G C SNP MUC1 ENST00000425082 human ensembl 70_37 -1 known missense c.220 p.Q74E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC1 HGNC ENSG00000185499 21 25 54.35 33 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100634053 100634053 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100634053 100634053 A G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.638 p.D213G 0.012 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 37 6 13.95 79 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100634191 100634191 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100634191 100634191 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.776 p.S259L 0.050 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 12 36 75.00 100 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100634472 100634472 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 100634472 100634472 G A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.1057 p.G353S 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 76 16 17.39 88 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100635238 100635238 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 100635238 100635238 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.1823 p.S608L 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 143 30 17.34 167 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100636087 100636087 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100636087 100636087 C G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known nonsense c.2672 p.S891* 0.284 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 215 45 17.31 188 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100637074 100637074 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 100637074 100637074 G A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.3659 p.R1220H 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 32 6 15.79 31 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100638812 100638812 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 100638812 100638812 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.5397 p.L1799 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 110 32 22.54 166 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100639210 100639211 + Frame_Shift_Ins INS - - A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 100639210 100639211 - A INS MUC12 ENST00000379442 human ensembl 70_37 +1 known frame_shift_ins c.5795_5796 p.A1933fs 0.000:0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 1 3 75.00 10 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100641744 100641744 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100641744 100641744 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8329 p.R2777C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 25 11 30.56 24 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100641744 100641744 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 100641744 100641744 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8329 p.R2777C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 7 4 36.36 18 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100641798 100641798 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 100641798 100641798 C G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8383 p.P2795A 0.002 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 27 5 15.62 28 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100642138 100642138 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100642138 100642138 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8723 p.S2908L 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 212 27 11.30 129 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100642488 100642488 + Missense_Mutation SNP T T A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 100642488 100642488 T A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.9073 p.S3025T 0.009 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 102 26 20.31 138 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100643155 100643155 + Missense_Mutation SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 100643155 100643155 A T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.9740 p.K3247I 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 58 7 10.77 41 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100644059 100644059 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 100644059 100644059 G C SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.10644 p.E3548D 0.134 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 11 5 31.25 13 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100644356 100644356 + Silent SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100644356 100644356 A T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.10941 p.T3647 0.003 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 28 13 31.71 48 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100645303 100645303 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100645303 100645303 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.11888 p.S3963L 0.003 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 59 42 41.18 58 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100645601 100645601 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 7 100645601 100645601 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.12186 p.T4062 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 65 9 12.16 59 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100646140 100646140 + Missense_Mutation SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 100646140 100646140 T C SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.12725 p.V4242A 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 59 9 13.24 35 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100646665 100646665 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 100646665 100646665 C A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.13250 p.T4417N 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 214 30 12.30 217 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100646670 100646670 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 100646670 100646670 C A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.13255 p.H4419N 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 25 4 13.79 22 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100647059 100647059 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 100647059 100647059 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.13644 p.L4548 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 108 24 18.18 129 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100648305 100648305 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100648305 100648305 G T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known nonsense c.14890 p.E4964* 0.005 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 37 18 32.73 69 0 0.00 MUC12 10071 genome.wustl.edu 37 7 100661892 100661892 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 100661892 100661892 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.16412 p.P5471L 0.144 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 88 42 32.31 106 0 0.00 MUC13 56667 genome.wustl.edu 37 3 124635176 124635176 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 124635176 124635176 G C SNP MUC13 ENST00000311075 human ensembl 70_37 -1 known missense c.949 p.L317V 0.000 pfam_SEA,superfamily_Growth_fac_rcpt pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 66 19 22.35 73 0 0.00 MUC13 56667 genome.wustl.edu 37 3 124642461 124642461 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 124642461 124642461 C G SNP MUC13 ENST00000311075 human ensembl 70_37 -1 known missense c.547 p.D183H 0.001 superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 20 26 56.52 41 0 0.00 MUC15 143662 genome.wustl.edu 37 11 26587073 26587074 + Frame_Shift_Ins INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 26587073 26587074 - T INS MUC15 ENST00000436318 human ensembl 70_37 -1 known frame_shift_ins c.414_413 p.I140fs 0.000:0.038 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 12 3 20.00 36 0 0.00 MUC16 94025 genome.wustl.edu 37 19 8976330 8976330 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 8976330 8976330 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.42498 p.L14166 0.310 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 49 10 16.95 38 0 0.00 MUC16 94025 genome.wustl.edu 37 19 8993541 8993541 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 8993541 8993541 C G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.41548 p.E13850Q 0.000 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 32 27 45.76 62 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9003293 9003293 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 9003293 9003293 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.40142 p.R13381K 0.984 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 60 34 36.17 98 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9011002 9011002 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 9011002 9011002 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.38916 p.F12972 0.856 smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 33 22 40.00 75 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9014186 9014186 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 9014186 9014186 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38462 p.S12821C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 83 59 41.55 151 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9014193 9014193 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 9014193 9014193 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38455 p.Q12819E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 62 15 19.48 98 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9014541 9014541 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 9014541 9014541 A G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38434 p.Y12812H 0.994 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 69 15 17.65 84 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9043453 9043453 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 9043453 9043453 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.36076 p.H12026N 0.782 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 29 15 34.09 97 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9049262 9049262 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 9049262 9049262 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.32369 p.S10790L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 37 35 48.61 61 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9056578 9056578 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 9056578 9056578 C A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.30868 p.A10290S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 32 17 34.69 54 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9057477 9057477 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 9057477 9057477 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.29969 p.R9990K 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 50 15 22.73 88 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9057967 9057967 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 9057967 9057967 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.29479 p.H9827Y 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 97 29 23.02 135 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9058848 9058848 + Missense_Mutation SNP T T G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 9058848 9058848 T G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.28598 p.Y9533S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 2 3 60.00 24 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9058918 9058918 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 9058918 9058918 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.28528 p.E9510K 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 30 5 14.29 38 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9059312 9059312 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9059312 9059312 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.28134 p.S9378 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 73 17 18.68 189 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9060012 9060012 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 9060012 9060012 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.27434 p.S9145C 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 51 11 17.74 58 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9060718 9060718 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 9060718 9060718 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.26728 p.P8910S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 122 30 19.74 119 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9061666 9061666 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 9061666 9061666 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.25780 p.L8594V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 121 25 17.12 88 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9062922 9062922 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 9062922 9062922 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.24524 p.S8175L 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 70 8 10.26 83 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9064235 9064235 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9064235 9064235 T A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.23211 p.E7737D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 30 12 28.57 65 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9064866 9064866 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 9064866 9064866 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.22580 p.S7527C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 99 16 13.91 86 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9065029 9065029 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9065029 9065029 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.22417 p.P7473S 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 58 45 43.69 107 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9065853 9065853 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9065853 9065853 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.21593 p.S7198C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 22 29 56.86 38 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9065853 9065853 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9065853 9065853 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.21593 p.S7198C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 58 85 59.44 168 1 0.59 MUC16 94025 genome.wustl.edu 37 19 9067041 9067041 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9067041 9067041 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.20405 p.S6802F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 14 16 53.33 43 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9067041 9067041 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9067041 9067041 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.20405 p.S6802F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 39 54 57.45 80 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9068288 9068288 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9068288 9068288 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.19158 p.V6386 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 18 21 52.50 45 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9068288 9068288 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9068288 9068288 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.19158 p.V6386 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 23 38 62.30 79 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9068304 9068304 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 9068304 9068304 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.19142 p.S6381L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 48 14 22.22 63 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9068371 9068371 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 9068371 9068371 C G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.19075 p.E6359Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 39 13 24.53 32 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9070110 9070110 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9070110 9070110 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17336 p.S5779C 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 27 10 27.03 53 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9070263 9070263 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9070263 9070263 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17183 p.S5728C 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 51 21 28.38 115 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9070320 9070320 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9070320 9070320 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17126 p.A5709D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 63 50 44.25 129 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071029 9071029 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 9071029 9071029 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16417 p.Q5473E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 36 19 34.55 63 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071029 9071029 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071029 9071029 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.16417 p.Q5473* 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 15 6 28.57 49 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071033 9071033 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 9071033 9071033 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.16413 p.I5471 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 57 26 31.33 52 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071367 9071367 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071367 9071367 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16079 p.S5360F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 47 23 32.86 114 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071439 9071439 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9071439 9071439 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16007 p.S5336F 0.005 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 34 21 38.18 68 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071445 9071445 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071445 9071445 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16001 p.S5334C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 35 14 28.57 50 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071580 9071580 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071580 9071580 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15866 p.S5289L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 32 10 23.81 60 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9071925 9071925 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071925 9071925 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15521 p.S5174Y 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 17 4 19.05 28 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9072414 9072414 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072414 9072414 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15032 p.S5011L 0.010 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 18 3 14.29 28 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9072600 9072600 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072600 9072600 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.14846 p.S4949* 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 19 11 36.67 51 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9072723 9072723 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072723 9072723 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.14723 p.S4908L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 46 23 33.33 73 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9073656 9073656 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9073656 9073656 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13790 p.S4597F 0.018 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 28 17 37.78 102 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9073717 9073717 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9073717 9073717 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13729 p.A4577T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 45 7 12.96 65 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9073852 9073852 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9073852 9073852 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13594 p.H4532N 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 29 10 25.64 60 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9075567 9075567 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 9075567 9075567 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.11879 p.S3960C 0.002 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 60 19 23.46 65 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9076110 9076110 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 9076110 9076110 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.11336 p.S3779F 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 40 9 18.37 47 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9076980 9076980 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 9076980 9076980 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.10466 p.T3489I 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 50 25 33.33 65 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9077593 9077593 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9077593 9077593 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.9853 p.L3285V 0.042 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 103 76 42.46 175 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9082960 9082960 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 9082960 9082960 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.8855 p.S2952* 0.010 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 55 12 17.91 61 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9083358 9083358 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 9083358 9083358 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.8457 p.L2819 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 58 15 20.55 87 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9084975 9084975 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 9084975 9084975 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.6840 p.L2280 0.043 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 87 35 28.69 127 1 0.78 MUC16 94025 genome.wustl.edu 37 19 9089380 9089380 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9089380 9089380 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.2435 p.S812F 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 44 16 26.67 40 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9090887 9090888 + Frame_Shift_Ins INS - - A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 9090887 9090888 - A INS MUC16 ENST00000397910 human ensembl 70_37 -1 known frame_shift_ins c.928_927 p.L309fs 0.000:0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 9 2 18.18 32 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9090910 9090910 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 9090910 9090910 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.905 p.S302L 0.005 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 29 6 17.14 34 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9090942 9090942 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 9090942 9090942 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.873 p.L291 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 33 7 17.50 27 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9091665 9091665 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9091665 9091665 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.150 p.V50 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 48 21 30.43 36 0 0.00 MUC16 94025 genome.wustl.edu 37 19 9091809 9091809 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9091809 9091809 C A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.6 p.L2 0.009 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 54 10 15.62 48 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100674975 100674975 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 100674975 100674975 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.278 p.S93L 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 34 11 24.44 70 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100675173 100675173 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100675173 100675173 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.476 p.S159* 0.006 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 21 18 46.15 36 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100675495 100675495 + Silent SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 100675495 100675495 A G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.798 p.S266 0.003 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 123 87 41.43 228 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100675832 100675832 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100675832 100675832 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.1135 p.E379K 0.012 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 66 26 27.96 87 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100675897 100675897 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 100675897 100675897 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.1200 p.V400 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 278 69 19.88 405 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100676739 100676739 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 100676739 100676739 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2042 p.S681* 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 407 73 15.21 573 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100676739 100676739 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 100676739 100676739 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2042 p.S681* 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 52 9 14.52 43 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100676823 100676823 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100676823 100676823 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2126 p.S709* 0.029 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 63 39 38.24 118 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100677044 100677044 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 100677044 100677044 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.2347 p.E783K 0.004 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 546 137 20.03 381 1 0.26 MUC17 140453 genome.wustl.edu 37 7 100678046 100678046 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 100678046 100678046 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.3349 p.E1117K 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 58 36 38.30 72 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100678400 100678400 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 100678400 100678400 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.3703 p.E1235K 0.019 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 150 19 11.24 176 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100679462 100679462 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 100679462 100679462 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.4765 p.E1589Q 0.004 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 45 22 32.84 59 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100679611 100679611 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100679611 100679611 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.4914 p.V1638 0.009 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 57 33 36.67 84 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100682189 100682189 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100682189 100682189 A G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7492 p.T2498A 0.014 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 246 44 15.12 342 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100682525 100682525 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 100682525 100682525 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7828 p.E2610Q 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 127 45 26.16 91 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100682598 100682598 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100682598 100682598 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7901 p.S2634L 0.035 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 63 14 18.18 42 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100682996 100682996 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100682996 100682996 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8299 p.E2767Q 0.011 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 59 49 45.37 76 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100683521 100683521 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100683521 100683521 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8824 p.G2942S 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 247 211 45.97 342 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100683521 100683521 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100683521 100683521 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.8824 p.G2942S 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 45 31 40.79 25 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100685735 100685735 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 7 100685735 100685735 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11038 p.E3680K 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 117 53 30.99 208 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100685909 100685909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100685909 100685909 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11212 p.L3738V 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 226 57 20.14 293 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100686128 100686128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100686128 100686128 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11431 p.E3811Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 36 6 14.29 25 0 0.00 MUC17 140453 genome.wustl.edu 37 7 100686385 100686385 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100686385 100686385 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.11688 p.S3896 0.124 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 18 5 21.74 71 0 0.00 MUC19 283463 genome.wustl.edu 37 12 40925086 40925086 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 40925086 40925086 C T SNP MUC19 ENST00000474954 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors MUC19 HGNC ENSG00000205592 34 30 46.88 90 0 0.00 MUC19 283463 genome.wustl.edu 37 12 40925803 40925803 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 40925803 40925803 G A SNP MUC19 ENST00000474954 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC ENSG00000205592 17 9 34.62 36 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1078304 1078304 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 11 1078304 1078304 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.591 p.Q197 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 7 43 86.00 66 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1079662 1079662 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 1079662 1079662 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.879 p.K293 0.810 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 99 14 12.39 108 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1082321 1082321 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1082321 1082321 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.1776 p.K592 0.069 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 63 27 30.00 80 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1086013 1086013 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 1086013 1086013 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.2853 p.T951 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 22 8 26.67 17 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1090951 1090952 + In_Frame_Ins INS - - ACC TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 1090951 1090952 - ACC INS MUC2 ENST00000441003 human ensembl 70_37 +1 known in_frame_ins c.3846_3847 p.1286in_frame_insT 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 61 13 17.57 74 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1092219 1092219 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 1092219 1092219 C G SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.4038 p.L1346 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 71 34 32.38 168 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1092256 1092256 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 1092256 1092256 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.4075 p.V1359I 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 51 18 26.09 106 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1093677 1093677 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 1093677 1093677 C T SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.5496 p.S1832 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 36 23 38.98 40 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1095202 1095202 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1095202 1095202 G C SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.6022 p.E2008Q 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 48 54 52.94 83 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1095260 1095260 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1095260 1095260 C G SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.6080 p.S2027W 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 28 53 65.43 93 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1099467 1099467 + Silent SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 1099467 1099467 T C SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.7308 p.P2436 0.001 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 7 6 46.15 35 0 0.00 MUC2 4583 genome.wustl.edu 37 11 1104215 1104215 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 1104215 1104215 C T SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.8406 p.G2802 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 17 8 32.00 17 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195345578 195345578 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 195345578 195345578 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known silent c.51 p.H17 0.021 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 4 5 55.56 13 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195346312 195346312 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 195346312 195346312 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known missense c.614 p.P205L 0.132 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 170 24 12.37 152 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195346456 195346456 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 195346456 195346456 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known missense c.758 p.S253L 0.010 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 54 21 28.00 87 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195453054 195453054 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195453054 195453054 G A SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1580 p.R527K 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 78 51 39.53 60 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195453117 195453117 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195453117 195453117 G T SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1643 p.G548V 0.006 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 92 31 25.20 80 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195453204 195453204 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 195453204 195453204 C T SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1730 p.S577L 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 28 21 42.86 58 0 0.00 MUC20 200958 genome.wustl.edu 37 3 195453332 195453332 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 195453332 195453332 G A SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1858 p.G620R 0.004 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 26 3 10.34 35 0 0.00 MUC3A 4584 genome.wustl.edu 37 7 100547242 100547242 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100547242 100547242 C G SNP MUC3A ENST00000483366 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors MUC3A HGNC ENSG00000169894 14 60 81.08 167 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195474048 195474048 + Nonstop_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195474048 195474048 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonstop c.16238 p.*5413S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 37 21 36.21 51 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195474200 195474200 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195474200 195474200 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.16086 p.L5362 0.965 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 30 16 34.04 38 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195475853 195475853 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195475853 195475853 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.15954 p.F5318 0.993 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 73 12 14.12 109 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195481096 195481096 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 195481096 195481096 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.15316 p.R5106W 0.597 smart_EG-like_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 77 23 22.77 54 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195488431 195488431 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 3 195488431 195488431 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.14538 p.D4846 0.913 pfam_VWF_type-D,smart_VWF_type-D pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 101 15 12.93 49 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195489068 195489068 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 195489068 195489068 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.14402 p.S4801L 0.530 pfam_VWF_type-D,smart_VWF_type-D pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 29 23 44.23 27 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195490965 195490965 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 195490965 195490965 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.13995 p.Q4665 0.964 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 28 4 12.50 45 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195492148 195492148 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 195492148 195492148 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.13791 p.V4597 0.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 45 82 64.57 44 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195505972 195505972 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195505972 195505972 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12479 p.S4160C 0.302 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 106 47 30.72 134 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506302 195506302 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 195506302 195506302 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12149 p.P4050H 0.021 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 179 20 10.05 120 1 0.83 MUC4 4585 genome.wustl.edu 37 3 195506314 195506314 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 195506314 195506314 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12137 p.T4046S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 97 31 24.22 88 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506350 195506350 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 195506350 195506350 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12101 p.P4034H 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 29 11 27.50 26 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506473 195506473 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 195506473 195506473 A G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11978 p.V3993A 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 21 7 25.00 16 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506492 195506492 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195506492 195506492 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11959 p.V3987F 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 107 57 34.76 76 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506546 195506546 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 195506546 195506546 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11905 p.L3969F 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 139 20 12.58 80 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506647 195506647 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195506647 195506647 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11804 p.T3935I 0.343 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 123 35 22.15 63 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195506863 195506863 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 195506863 195506863 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11588 p.S3863F 0.947 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 127 57 30.98 177 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507119 195507119 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195507119 195507119 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11332 p.P3778S 0.296 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 242 58 19.27 161 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507162 195507162 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195507162 195507162 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.11289 p.V3763 0.050 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 244 31 11.27 187 1 0.53 MUC4 4585 genome.wustl.edu 37 3 195507218 195507218 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195507218 195507218 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11233 p.L3745V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 326 45 12.13 266 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507323 195507323 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 195507323 195507323 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11128 p.T3710A 0.019 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 30 7 18.92 35 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507324 195507324 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 195507324 195507324 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11127 p.H3709Q 0.278 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 31 6 16.22 35 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507554 195507554 + Missense_Mutation SNP G G C TCGA-EK-A2RM-01A-21D-A18J-09 TCGA-EK-A2RM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 801e67c8-c506-410a-bdf0-856a66e974f4 b2a9b6b3-8ae5-4da7-ae2e-02cb5b0390b2 3 195507554 195507554 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10897 p.L3633V 0.006 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 74 12 13.95 34 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195507794 195507794 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 195507794 195507794 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10657 p.L3553V 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 147 108 42.35 232 1 0.43 MUC4 4585 genome.wustl.edu 37 3 195507868 195507868 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195507868 195507868 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10583 p.S3528L 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 232 26 10.04 161 1 0.62 MUC4 4585 genome.wustl.edu 37 3 195508133 195508133 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 195508133 195508133 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10318 p.P3440S 0.010 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 61 7 10.14 8 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508149 195508149 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 195508149 195508149 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.10302 p.S3434 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 130 20 13.33 49 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508165 195508165 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 195508165 195508165 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10286 p.S3429N 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 70 12 14.46 8 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508223 195508223 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195508223 195508223 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10228 p.P3410S 0.005 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 303 42 12.17 187 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508226 195508226 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195508226 195508226 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10225 p.L3409F 0.009 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 309 40 11.43 191 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508307 195508307 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 195508307 195508307 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10144 p.I3382V 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 75 14 15.73 42 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508444 195508444 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195508444 195508444 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10007 p.S3336L 0.191 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 156 23 12.85 145 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195508585 195508585 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195508585 195508585 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.9866 p.S3289* 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 100 26 20.47 59 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509059 195509059 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 195509059 195509059 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.9392 p.T3131R 0.546 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 121 17 12.32 135 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509260 195509260 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195509260 195509260 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.9191 p.S3064L 0.500 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 210 92 30.46 192 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509548 195509548 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509548 195509548 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.8903 p.S2968* 0.723 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 711 99 12.22 380 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509644 195509644 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195509644 195509644 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8807 p.S2936L 0.211 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 169 61 26.52 187 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509644 195509644 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509644 195509644 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8807 p.S2936L 0.211 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 763 129 14.46 460 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509740 195509740 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195509740 195509740 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.8711 p.S2904* 0.713 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 154 18 10.47 221 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509762 195509762 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509762 195509762 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8689 p.L2897F 0.199 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 757 85 10.08 338 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509858 195509858 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195509858 195509858 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8593 p.L2865V 0.867 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 256 47 14.73 235 1 0.42 MUC4 4585 genome.wustl.edu 37 3 195509920 195509920 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195509920 195509920 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8531 p.G2844D 0.061 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 612 95 13.42 329 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195509987 195509987 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 195509987 195509987 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8464 p.A2822T 0.873 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 343 64 15.57 174 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510230 195510230 + Frame_Shift_Del DEL C C - TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 195510230 195510230 C - DEL MUC4 ENST00000463781 human ensembl 70_37 -1 known frame_shift_del c.8221 p.E2741fs 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 124 15 10.79 68 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510290 195510290 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510290 195510290 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8161 p.L2721F 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 80 18 18.00 73 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510292 195510292 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510292 195510292 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8159 p.S2720F 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 82 17 17.17 72 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510782 195510782 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195510782 195510782 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7669 p.H2557Y 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 225 54 19.22 194 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510796 195510796 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195510796 195510796 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7655 p.S2552L 0.016 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 706 80 10.18 351 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510796 195510796 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195510796 195510796 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.7655 p.S2552* 0.016 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 246 64 20.65 220 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195510815 195510815 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195510815 195510815 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7636 p.H2546Y 0.340 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 203 24 10.53 273 1 0.36 MUC4 4585 genome.wustl.edu 37 3 195510853 195510853 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 195510853 195510853 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7598 p.N2533S 0.393 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 373 51 12.03 210 1 0.47 MUC4 4585 genome.wustl.edu 37 3 195511010 195511010 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511010 195511010 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7441 p.L2481F 0.040 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 268 75 21.80 319 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511058 195511058 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195511058 195511058 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7393 p.L2465V 0.055 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 380 43 10.17 295 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511375 195511375 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511375 195511375 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7076 p.S2359F 0.468 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 342 67 16.34 328 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511420 195511420 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195511420 195511420 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7031 p.S2344L 0.541 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 405 59 12.72 358 1 0.28 MUC4 4585 genome.wustl.edu 37 3 195511420 195511420 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511420 195511420 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.7031 p.S2344* 0.541 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 212 61 22.34 239 1 0.41 MUC4 4585 genome.wustl.edu 37 3 195511679 195511679 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195511679 195511679 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6772 p.P2258S 0.009 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 256 64 19.69 215 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511826 195511826 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 195511826 195511826 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6625 p.L2209V 0.930 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 540 95 14.96 342 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511846 195511846 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195511846 195511846 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6605 p.S2202F 0.114 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 363 41 10.15 253 1 0.39 MUC4 4585 genome.wustl.edu 37 3 195511900 195511900 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195511900 195511900 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6551 p.S2184* 0.076 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 484 61 11.19 383 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195511990 195511990 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195511990 195511990 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6461 p.S2154C 0.986 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 189 40 17.47 158 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512066 195512066 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512066 195512066 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6385 p.L2129I 0.097 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 339 44 11.49 239 1 0.42 MUC4 4585 genome.wustl.edu 37 3 195512103 195512103 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 195512103 195512103 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.6348 p.T2116 0.138 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 7 5 41.67 8 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512126 195512126 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195512126 195512126 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6325 p.H2109Y 0.248 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 241 53 18.03 312 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512140 195512140 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512140 195512140 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6311 p.S2104* 0.009 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 395 56 12.42 295 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512236 195512236 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195512236 195512236 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6215 p.S2072L 0.121 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 365 74 16.86 287 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512284 195512284 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512284 195512284 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6167 p.S2056* 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 276 34 10.97 194 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512318 195512318 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512318 195512318 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6133 p.Q2045* 0.007 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 288 33 10.28 194 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512351 195512351 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512351 195512351 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6100 p.P2034S 0.160 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 305 35 10.29 209 1 0.48 MUC4 4585 genome.wustl.edu 37 3 195512716 195512716 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512716 195512716 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5735 p.S1912L 0.349 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 409 57 12.23 241 1 0.41 MUC4 4585 genome.wustl.edu 37 3 195512719 195512719 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195512719 195512719 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5732 p.S1911F 0.352 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 274 62 18.45 291 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512882 195512882 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 3 195512882 195512882 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5569 p.L1857V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 155 52 25.12 56 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195512956 195512956 + Nonsense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195512956 195512956 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.5495 p.S1832* 0.963 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 330 51 13.39 271 1 0.37 MUC4 4585 genome.wustl.edu 37 3 195513052 195513052 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 195513052 195513052 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5399 p.S1800L 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 255 32 11.15 214 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513258 195513258 + Silent SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 195513258 195513258 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.5193 p.V1731 0.639 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 357 43 10.72 372 1 0.27 MUC4 4585 genome.wustl.edu 37 3 195513270 195513270 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 195513270 195513270 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.5181 p.T1727 0.669 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 269 70 19.07 242 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513359 195513359 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 195513359 195513359 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5092 p.P1698S 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 214 55 20.37 187 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513362 195513362 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 195513362 195513362 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5089 p.L1697F 0.029 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 186 42 18.42 194 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513382 195513383 + Frame_Shift_Ins INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 195513382 195513383 - A INS MUC4 ENST00000463781 human ensembl 70_37 -1 known frame_shift_ins c.5069_5068 p.T1690fs 0.251:0.029 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 93 13 12.26 22 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513410 195513410 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195513410 195513410 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5041 p.L1681V 0.173 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 219 29 11.69 138 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513554 195513554 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195513554 195513554 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4897 p.L1633V 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 791 89 10.11 430 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513580 195513580 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195513580 195513580 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4871 p.S1624L 0.016 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 230 69 23.00 172 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513628 195513628 + Nonsense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195513628 195513628 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.4823 p.S1608* 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 385 47 10.88 251 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513669 195513669 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195513669 195513669 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.4782 p.S1594 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 137 59 29.95 204 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513724 195513724 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 195513724 195513724 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4727 p.S1576L 0.018 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 578 74 11.35 301 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195513868 195513868 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195513868 195513868 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4583 p.S1528L 0.970 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 39 12 23.53 51 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195514370 195514370 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195514370 195514370 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4081 p.L1361V 0.015 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 183 40 17.94 110 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515052 195515052 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195515052 195515052 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3399 p.H1133Q 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 117 13 10.00 131 1 0.75 MUC4 4585 genome.wustl.edu 37 3 195515215 195515215 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 195515215 195515215 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3236 p.S1079Y 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 192 22 10.28 191 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515246 195515246 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195515246 195515246 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3205 p.H1069Y 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 242 29 10.70 123 1 0.81 MUC4 4585 genome.wustl.edu 37 3 195515356 195515356 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195515356 195515356 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3095 p.S1032L 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 155 66 29.86 178 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515364 195515364 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 195515364 195515364 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.3087 p.D1029 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 12 4 25.00 8 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 195515449 195515449 A T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3002 p.V1001E 0.027 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 82 11 11.70 12 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515603 195515603 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195515603 195515603 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.2848 p.P950A 0.107 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 109 18 14.17 68 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515701 195515701 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195515701 195515701 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.2750 p.R917T 0.025 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 96 31 24.41 104 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195515821 195515821 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195515821 195515821 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.2630 p.S877F 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 57 15 20.83 44 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195516941 195516941 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195516941 195516941 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.1510 p.E504Q 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 49 36 42.35 68 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195517019 195517019 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195517019 195517019 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.1432 p.E478* 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 29 14 32.56 56 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195517135 195517135 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195517135 195517135 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.1316 p.S439F 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 79 20 20.20 61 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195517250 195517250 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 195517250 195517250 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.1201 p.D401N 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 63 13 17.11 64 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195517631 195517631 + Missense_Mutation SNP G G C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195517631 195517631 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.820 p.L274V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 29 7 19.44 26 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195517883 195517883 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195517883 195517883 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.568 p.D190H 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 90 60 40.00 131 0 0.00 MUC4 4585 genome.wustl.edu 37 3 195518150 195518150 + Missense_Mutation SNP G G C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 195518150 195518150 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.301 p.L101V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 46 21 31.34 58 0 0.00 MUC5AC 4586 genome.wustl.edu 37 11 1213058 1213058 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1213058 1213058 C G SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors MUC5AC HGNC ENSG00000215182 97 18 15.65 86 0 0.00 MUC5AC 4586 genome.wustl.edu 37 11 1214870 1214870 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 1214870 1214870 C T SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.354 - - - no_errors MUC5AC HGNC ENSG00000215182 17 7 29.17 52 0 0.00 MUC5AC 4586 genome.wustl.edu 37 11 1214870 1214870 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 1214870 1214870 C T SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.354 - - - no_errors MUC5AC HGNC ENSG00000215182 35 6 14.63 26 0 0.00 MUC5AC 4586 genome.wustl.edu 37 11 1215458 1215458 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 1215458 1215458 G A SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.096 - - - no_errors MUC5AC HGNC ENSG00000215182 14 15 51.72 61 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1248315 1248315 + Nonsense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 1248315 1248315 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.516 p.Y172* 0.016 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 35 9 20.45 39 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1253309 1253309 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1253309 1253309 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.1771 p.A591T 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 13 8 38.10 49 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1255050 1255050 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 1255050 1255050 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.2358 p.C786 1.000 smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 136 32 19.05 202 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1257694 1257694 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 1257694 1257694 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.2968 p.R990C 0.032 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 64 19 22.89 67 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1261581 1261581 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1261581 1261581 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.3955 p.A1319T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 7 6 42.86 14 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1263798 1263798 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 1263798 1263798 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.5697 p.T1899 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 94 36 27.48 158 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1263912 1263912 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1263912 1263912 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.5811 p.P1937 0.096 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 138 28 16.87 119 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1264292 1264292 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 1264292 1264292 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.6191 p.A2064V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 86 10 10.42 149 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1264717 1264717 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 11 1264717 1264717 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.6616 p.P2206S 0.005 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 20 4 16.67 34 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1265813 1265813 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1265813 1265813 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7712 p.S2571F 0.058 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 90 67 42.68 147 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1265856 1265856 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 1265856 1265856 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.7755 p.T2585 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 71 23 24.47 152 1 0.65 MUC5B 727897 genome.wustl.edu 37 11 1265936 1265936 + Missense_Mutation SNP T T C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 1265936 1265936 T C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7835 p.L2612P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 65 24 26.97 146 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 1265999 1265999 T C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7898 p.L2633P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 152 81 34.76 165 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1267515 1267515 + Silent SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 1267515 1267515 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.9414 p.L3138 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 19 27 58.70 102 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1267602 1267602 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 1267602 1267602 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.9501 p.L3167 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 39 31 44.29 131 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1268333 1268333 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1268333 1268333 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.10232 p.S3411* 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 104 41 28.28 173 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1268629 1268629 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1268629 1268629 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.10528 p.P3510A 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 18 22 55.00 66 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269088 1269088 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1269088 1269088 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.10987 p.E3663K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 5 7 58.33 28 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269198 1269198 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1269198 1269198 G C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.11097 p.L3699 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 7 22 73.33 49 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269671 1269671 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1269671 1269671 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11570 p.S3857Y 0.009 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 71 37 34.26 137 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269691 1269691 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 1269691 1269691 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11590 p.H3864Y 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 79 60 43.17 134 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269780 1269780 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1269780 1269780 G C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11679 p.W3893C 0.008 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 77 15 16.13 88 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1269975 1269975 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 1269975 1269975 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.11874 p.T3958 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 90 16 15.09 232 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1270922 1270922 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1270922 1270922 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.12821 p.S4274C 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 54 38 41.30 80 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1271112 1271112 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1271112 1271112 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.13011 p.T4337 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 66 48 42.11 103 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1271163 1271163 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1271163 1271163 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.13062 p.I4354M 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 130 60 31.58 224 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1271258 1271258 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1271258 1271258 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.13157 p.S4386F 0.024 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 46 33 41.77 94 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1271508 1271508 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 1271508 1271508 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.13407 p.T4469 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 62 10 13.89 101 1 0.98 MUC5B 727897 genome.wustl.edu 37 11 1272203 1272203 + Nonsense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 1272203 1272203 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.14102 p.S4701* 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 165 61 26.99 227 1 0.44 MUC5B 727897 genome.wustl.edu 37 11 1272287 1272287 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1272287 1272287 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.14186 p.S4729F 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 59 45 43.27 126 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1273616 1273616 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1273616 1273616 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.14916 p.F4972L 0.304 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 23 19 45.24 72 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1274084 1274084 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 1274084 1274084 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.15100 p.V5034M 0.271 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 28 19 40.43 46 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1275346 1275346 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1275346 1275346 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.15251 p.S5084F 0.048 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 21 14 40.00 42 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1276305 1276305 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1276305 1276305 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.15708 p.L5236 0.727 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 20 21 51.22 40 0 0.00 MUC5B 727897 genome.wustl.edu 37 11 1281216 1281216 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 1281216 1281216 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.16833 p.S5611 0.028 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 21 7 25.00 29 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1016049 1016049 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 1016049 1016049 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.6752 p.T2251M 0.057 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 32 8 20.00 32 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1017591 1017591 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 1017591 1017591 C T SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.5210 p.R1737Q 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 170 81 29.14 139 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1018394 1018394 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 1018394 1018394 C G SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.4407 p.Q1469H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 202 80 26.32 335 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1019337 1019337 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 1019337 1019337 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.3968 p.S1323F 0.038 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 97 47 32.64 211 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1028329 1028329 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1028329 1028329 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known silent c.1650 p.I550 0.114 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 16 5 23.81 36 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1028943 1028943 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1028943 1028943 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known nonsense c.1399 p.Q467* 0.978 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 90 25 21.74 113 0 0.00 MUC6 4588 genome.wustl.edu 37 11 1031828 1031828 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1031828 1031828 G C SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known nonsense c.341 p.S114* 0.910 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 50 32 39.02 79 0 0.00 MUC7 4589 genome.wustl.edu 37 4 71346991 71346991 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 71346991 71346991 C A SNP MUC7 ENST00000304887 human ensembl 70_37 +1 known missense c.530 p.P177Q 0.009 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 44 7 13.21 95 0 0.00 MUC7 4589 genome.wustl.edu 37 4 71347022 71347022 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 71347022 71347022 G A SNP MUC7 ENST00000304887 human ensembl 70_37 +1 known silent c.561 p.E187 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 69 56 44.80 108 0 0.00 MUL1 79594 genome.wustl.edu 37 1 20827823 20827823 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 20827823 20827823 C T SNP MUL1 ENST00000264198 human ensembl 70_37 -1 known missense c.419 p.R140Q 1.000 pfam_GIDE pfam_GIDE,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 36 8 18.18 69 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1356398 1356398 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1356398 1356398 G C SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.10 p.D4H 1.000 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 74 11 12.94 82 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1358418 1358418 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1358418 1358418 G A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.172 p.E58K 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 99 52 34.44 94 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1360225 1360225 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 1360225 1360225 C T SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.308 p.S103L 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 140 33 18.97 132 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1360624 1360624 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 1360624 1360624 C T SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.707 p.S236L 0.001 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 111 27 19.42 113 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1360804 1360804 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 1360804 1360804 G A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.887 p.G296E 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 3 5 62.50 17 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1364566 1364566 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1364566 1364566 C A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.1275 p.F425L 1.000 pfam_PWWP pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 40 21 34.43 51 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1366351 1366351 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 1366351 1366351 C G SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.1335 p.I445M 0.103 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 33 28 45.90 49 0 0.00 MUM1 84939 genome.wustl.edu 37 19 1371277 1371277 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1371277 1371277 G A SNP MUM1 ENST00000415183 human ensembl 70_37 +1 novel silent c.2034 p.R678 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 21 6 22.22 21 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105449951 105449951 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105449951 105449951 G A SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.526 p.D176N 0.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 14 5 26.32 20 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105450199 105450199 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 105450199 105450199 C T SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.774 p.S258 0.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 18 5 21.74 14 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105451166 105451166 + Silent SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 105451166 105451166 A C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.1741 p.R581 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 20 7 25.93 19 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105451166 105451166 + Silent SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 105451166 105451166 A C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.1741 p.R581 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 36 20 35.71 27 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105451316 105451316 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105451316 105451316 G T SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.1891 p.D631Y 0.982 superfamily_PyrdxlP-dep_Trfase_major_dom superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 13 6 31.58 37 0 0.00 MUM1L1 139221 genome.wustl.edu 37 X 105451483 105451483 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 105451483 105451483 G C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.2058 p.K686N 0.999 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 66 14 17.50 49 0 0.00 MURC 347273 genome.wustl.edu 37 9 103348259 103348259 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 103348259 103348259 G T SNP MURC ENST00000307584 human ensembl 70_37 +1 known missense c.621 p.M207I 1.000 NULL NULL - no_errors MURC HGNC ENSG00000170681 21 4 16.00 34 0 0.00 MUS81 80198 genome.wustl.edu 37 11 65629694 65629694 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 65629694 65629694 C T SNP MUS81 ENST00000308110 human ensembl 70_37 +1 known missense c.463 p.H155Y 0.006 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 33 16 32.65 51 0 0.00 MUS81 80198 genome.wustl.edu 37 11 65632706 65632706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65632706 65632706 G A SNP MUS81 ENST00000308110 human ensembl 70_37 +1 known missense c.1417 p.E473K 0.955 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 37 8 17.78 39 0 0.00 MUSK 4593 genome.wustl.edu 37 9 113547810 113547810 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 113547810 113547810 A C SNP MUSK ENST00000189978 human ensembl 70_37 +1 known missense c.1608 p.E536D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 27 16 37.21 41 0 0.00 MUSK 4593 genome.wustl.edu 37 9 113550016 113550016 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113550016 113550016 A C SNP MUSK ENST00000189978 human ensembl 70_37 +1 known missense c.1843 p.K615Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 25 7 21.88 40 0 0.00 MUSK 4593 genome.wustl.edu 37 9 113550063 113550063 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 113550063 113550063 G A SNP MUSK ENST00000189978 human ensembl 70_37 +1 known silent c.1890 p.Q630 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 29 12 29.27 46 0 0.00 MUSK 4593 genome.wustl.edu 37 9 113550161 113550161 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 113550161 113550161 G A SNP MUSK ENST00000374438 human ensembl 70_37 +1 known missense c.518 p.R173K 0.001 pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 29 19 39.58 56 0 0.00 MUT 4594 genome.wustl.edu 37 6 49403181 49403181 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 49403181 49403181 C T SNP MUT ENST00000274813 human ensembl 70_37 -1 known silent c.2112 p.V704 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 72 22 23.40 86 0 0.00 MUTYH 4595 genome.wustl.edu 37 1 45799177 45799177 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 45799177 45799177 G C SNP MUTYH ENST00000450313 human ensembl 70_37 -1 known missense c.256 p.L86V 0.345 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 39 9 18.75 70 0 0.00 MUTYH 4595 genome.wustl.edu 37 1 45805915 45805915 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 45805915 45805915 G A SNP MUTYH ENST00000450313 human ensembl 70_37 -1 known silent c.12 p.L4 0.001 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 53 41 43.62 76 0 0.00 MVD 4597 genome.wustl.edu 37 16 88723974 88723974 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88723974 88723974 C T SNP MVD ENST00000301012 human ensembl 70_37 -1 known silent c.273 p.R91 0.278 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC ENSG00000167508 14 15 51.72 35 0 0.00 MVD 4597 genome.wustl.edu 37 16 88725118 88725118 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88725118 88725118 G A SNP MVD ENST00000567064 human ensembl 70_37 -1 known nonsense c.151 p.R51* 0.297 NULL NULL - no_errors MVD HGNC ENSG00000167508 40 15 27.27 66 0 0.00 MVK 4598 genome.wustl.edu 37 12 110013877 110013877 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110013877 110013877 C G SNP MVK ENST00000228510 human ensembl 70_37 +1 known silent c.153 p.L51 0.844 superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 53 17 24.29 49 0 0.00 MVK 4598 genome.wustl.edu 37 12 110032988 110032988 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 110032988 110032988 T C SNP MVK ENST00000228510 human ensembl 70_37 +1 known splice_site c.1039+2 e9+2 1.000 - - - no_errors MVK HGNC ENSG00000110921 18 7 28.00 33 0 0.00 MVP 9961 genome.wustl.edu 37 16 29841880 29841880 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29841880 29841880 G A SNP MVP ENST00000357402 human ensembl 70_37 +1 known missense c.10 p.E4K 0.705 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 39 28 41.79 67 0 0.00 MVP 9961 genome.wustl.edu 37 16 29859269 29859269 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 29859269 29859269 C G SNP MVP ENST00000357402 human ensembl 70_37 +1 known missense c.2641 p.Q881E 0.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 56 7 11.11 50 0 0.00 MX1 4599 genome.wustl.edu 37 21 42812922 42812922 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 42812922 42812922 G C SNP MX1 ENST00000398598 human ensembl 70_37 +1 known missense c.700 p.E234Q 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 86 18 17.14 110 0 0.00 MX2 4600 genome.wustl.edu 37 21 42762503 42762503 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 42762503 42762503 C T SNP MX2 ENST00000330714 human ensembl 70_37 +1 known silent c.744 p.L248 0.998 pfam_Dynamin_GTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX2 HGNC ENSG00000183486 27 26 49.06 30 0 0.00 MX2 4600 genome.wustl.edu 37 21 42771122 42771122 + Splice_Site SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 42771122 42771122 G A SNP MX2 ENST00000330714 human ensembl 70_37 +1 known splice_site c.1273-1 e9-1 1.000 - - - no_errors MX2 HGNC ENSG00000183486 18 7 28.00 60 0 0.00 MX2 4600 genome.wustl.edu 37 21 42774012 42774012 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 42774012 42774012 G A SNP MX2 ENST00000330714 human ensembl 70_37 +1 known silent c.1530 p.Q510 0.000 pfam_Dynamin_central,superfamily_CH-domain pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX2 HGNC ENSG00000183486 17 4 19.05 18 0 0.00 MXI1 4601 genome.wustl.edu 37 10 111967748 111967748 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 111967748 111967748 C T SNP MXI1 ENST00000332674 human ensembl 70_37 +1 known missense c.182 p.S61L 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MXI1 HGNC ENSG00000119950 22 11 33.33 36 0 0.00 MXI1 4601 genome.wustl.edu 37 10 112039840 112039840 + Nonsense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 112039840 112039840 C T SNP MXI1 ENST00000332674 human ensembl 70_37 +1 known nonsense c.721 p.R241* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MXI1 HGNC ENSG00000119950 27 25 48.08 60 0 0.00 MXI1 4601 genome.wustl.edu 37 10 112045704 112045705 + RNA INS - - A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 112045704 112045705 - A INS MXI1 ENST00000485566 human ensembl 70_37 +1 known rna NULL NULL 0.991:0.827 - - - no_errors MXI1 HGNC ENSG00000119950 32 4 11.11 35 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3228085 3228085 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 3228085 3228085 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.8159 p.S2720L 0.007 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 54 15 21.74 74 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3228968 3228968 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 3228968 3228968 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.7276 p.E2426K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 99 83 45.36 125 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3229028 3229028 + Nonsense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 3229028 3229028 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known nonsense c.7216 p.Q2406* 0.936 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 104 45 30.20 129 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3229099 3229099 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 3229099 3229099 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.7145 p.S2382F 0.947 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 174 94 34.81 189 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3229384 3229384 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 3229384 3229384 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.6860 p.S2287F 0.334 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 17 8 32.00 29 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3238158 3238158 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 3238158 3238158 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.5568 p.L1856 0.792 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 51 13 20.31 65 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3238287 3238287 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 3238287 3238287 C G SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.5439 p.Q1813H 0.010 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 36 20 35.71 43 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3239349 3239349 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 3239349 3239349 G T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.4377 p.T1459 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 35 4 10.26 27 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3239578 3239578 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 3239578 3239578 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known nonsense c.4148 p.S1383* 0.001 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 20 7 25.93 25 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3240795 3240795 + Nonsense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 3240795 3240795 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known nonsense c.2931 p.Y977* 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 33 21 38.89 44 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3241076 3241076 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 3241076 3241076 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.2650 p.L884V 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 56 19 25.33 58 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3241581 3241581 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 3241581 3241581 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.2145 p.L715 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 69 45 39.47 95 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3242249 3242249 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 3242249 3242249 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.1477 p.E493K 0.922 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 21 11 34.38 39 0 0.00 MXRA5 25878 genome.wustl.edu 37 X 3242779 3242779 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 X 3242779 3242779 C A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.947 p.W316L 0.997 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 28 4 12.50 36 0 0.00 MXRA7 439921 genome.wustl.edu 37 17 74673769 74673769 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 74673769 74673769 C T SNP MXRA7 ENST00000355797 human ensembl 70_37 -1 known silent c.516 p.Q172 1.000 NULL NULL - no_errors MXRA7 HGNC ENSG00000182534 26 12 31.58 20 0 0.00 MXRA8 54587 genome.wustl.edu 37 1 1289241 1289241 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 1289241 1289241 G C SNP MXRA8 ENST00000445648 human ensembl 70_37 -1 known missense c.1308 p.I436M 0.271 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors MXRA8 HGNC ENSG00000162576 30 12 28.57 70 0 0.00 MYADM 91663 genome.wustl.edu 37 19 54376790 54376790 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54376790 54376790 G A SNP MYADM ENST00000336967 human ensembl 70_37 +1 known missense c.7 p.V3M 0.258 NULL pfam_MARVEL-like_dom - no_errors MYADM HGNC ENSG00000179820 69 24 25.81 78 0 0.00 MYADML 151325 genome.wustl.edu 37 2 33952432 33952432 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 33952432 33952432 G A SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 35 4 10.26 37 0 0.00 MYADML 151325 genome.wustl.edu 37 2 33952630 33952630 + RNA SNP A A G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 33952630 33952630 A G SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MYADML HGNC ENSG00000239649 32 4 11.11 44 0 0.00 MYADML 151325 genome.wustl.edu 37 2 33952905 33952905 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 33952905 33952905 C T SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.818 - - - no_errors MYADML HGNC ENSG00000239649 29 7 19.44 41 0 0.00 MYADML 151325 genome.wustl.edu 37 2 33953001 33953001 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 33953001 33953001 C T SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors MYADML HGNC ENSG00000239649 33 15 31.25 33 0 0.00 MYADML 151325 genome.wustl.edu 37 2 33953103 33953103 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 33953103 33953103 G A SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MYADML HGNC ENSG00000239649 7 8 53.33 10 0 0.00 MYB 4602 genome.wustl.edu 37 6 135518263 135518263 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 135518263 135518263 G C SNP MYB ENST00000341911 human ensembl 70_37 +1 known missense c.1368 p.L456F 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 25 8 24.24 41 0 0.00 MYB 4602 genome.wustl.edu 37 6 135539381 135539382 + RNA INS - - T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 135539381 135539382 - T INS MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.998 - - - no_errors MYB HGNC ENSG00000118513 24 16 40.00 34 0 0.00 MYB 4602 genome.wustl.edu 37 6 135539487 135539487 + RNA SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 135539487 135539487 A G SNP MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYB HGNC ENSG00000118513 38 8 17.02 59 0 0.00 MYB 4602 genome.wustl.edu 37 6 135539519 135539519 + RNA DEL C C - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 135539519 135539519 C - DEL MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYB HGNC ENSG00000118513 24 4 14.29 39 0 0.00 MYBBP1A 10514 genome.wustl.edu 37 17 4443660 4443660 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 4443660 4443660 C T SNP MYBBP1A ENST00000381556 human ensembl 70_37 -1 known missense c.3417 p.M1139I 1.000 NULL pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 45 13 22.41 66 0 0.00 MYBBP1A 10514 genome.wustl.edu 37 17 4455782 4455782 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4455782 4455782 C T SNP MYBBP1A ENST00000381556 human ensembl 70_37 -1 known missense c.701 p.G234E 1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 18 22 55.00 24 0 0.00 MYBL1 4603 genome.wustl.edu 37 8 67492379 67492379 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 67492379 67492379 G T SNP MYBL1 ENST00000522677 human ensembl 70_37 -1 known missense c.1090 p.L364I 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 23 3 11.54 42 0 0.00 MYBL2 4605 genome.wustl.edu 37 20 42320836 42320836 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 42320836 42320836 C G SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.540 p.I180M 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 14 21 60.00 41 0 0.00 MYBL2 4605 genome.wustl.edu 37 20 42331337 42331337 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42331337 42331337 G A SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.1159 p.G387S 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 30 15 33.33 24 0 0.00 MYBL2 4605 genome.wustl.edu 37 20 42331338 42331338 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42331338 42331338 G A SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.1160 p.G387D 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 29 15 34.09 23 0 0.00 MYBPC1 4604 genome.wustl.edu 37 12 102025848 102025848 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 102025848 102025848 G A SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known missense c.488 p.G163E 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 71 21 22.83 52 0 0.00 MYBPC1 4604 genome.wustl.edu 37 12 102038471 102038471 + Nonsense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 102038471 102038471 C T SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known nonsense c.862 p.Q288* 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 30 4 11.76 78 0 0.00 MYBPC1 4604 genome.wustl.edu 37 12 102045046 102045046 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 102045046 102045046 G C SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known missense c.1401 p.Q467H 0.756 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 62 9 12.68 64 0 0.00 MYBPC1 4604 genome.wustl.edu 37 12 102079532 102079532 + RNA SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 102079532 102079532 C T SNP MYBPC1 ENST00000550501 human ensembl 70_37 +1 known rna NULL NULL 0.560 - - - no_errors MYBPC1 HGNC ENSG00000196091 37 13 26.00 28 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50939936 50939936 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50939936 50939936 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.408 p.L136 0.624 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 35 7 16.67 35 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50940944 50940944 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50940944 50940944 G A SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.541 p.E181K 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 38 20 34.48 71 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50957284 50957284 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 50957284 50957284 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1757 p.T586M 0.017 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 32 5 13.51 53 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50957558 50957558 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50957558 50957558 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1946 p.S649L 0.378 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 38 12 23.53 38 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50957566 50957566 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50957566 50957566 G C SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1954 p.E652Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 68 14 17.07 98 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50958397 50958397 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 50958397 50958397 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known nonsense c.2047 p.Q683* 0.913 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 45 7 13.21 50 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50958852 50958852 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50958852 50958852 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2289 p.I763 0.906 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 53 7 11.67 82 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50961953 50961953 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 50961953 50961953 C G SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.2448 p.I816M 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 48 16 25.00 61 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50961965 50961965 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 50961965 50961965 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2460 p.S820 0.942 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 33 11 25.00 67 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50962466 50962466 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50962466 50962466 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2694 p.F898 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 13 6 31.58 36 0 0.00 MYBPC2 4606 genome.wustl.edu 37 19 50965290 50965290 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 50965290 50965290 G A SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.3225 p.P1075 0.005 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 29 21 42.00 43 0 0.00 MYBPC3 4607 genome.wustl.edu 37 11 47354759 47354759 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 47354759 47354759 C T SNP MYBPC3 ENST00000399249 human ensembl 70_37 -1 known missense c.3316 p.D1106N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC3 HGNC ENSG00000134571 37 24 38.71 35 0 0.00 MYBPH 4608 genome.wustl.edu 37 1 203143635 203143635 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 203143635 203143635 C T SNP MYBPH ENST00000255416 human ensembl 70_37 -1 known missense c.431 p.R144H 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPH HGNC ENSG00000133055 37 19 33.33 51 0 0.00 MYBPH 4608 genome.wustl.edu 37 1 203144510 203144510 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203144510 203144510 C G SNP MYBPH ENST00000255416 human ensembl 70_37 -1 known missense c.285 p.E95D 0.450 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPH HGNC ENSG00000133055 25 10 28.57 48 0 0.00 MYBPHL 343263 genome.wustl.edu 37 1 109837879 109837879 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109837879 109837879 C T SNP MYBPHL ENST00000357155 human ensembl 70_37 -1 known missense c.908 p.G303D 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPHL HGNC ENSG00000221986 27 6 18.18 29 0 0.00 MYBPHL 343263 genome.wustl.edu 37 1 109839731 109839731 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 109839731 109839731 C G SNP MYBPHL ENST00000357155 human ensembl 70_37 -1 known missense c.511 p.D171H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPHL HGNC ENSG00000221986 47 9 15.79 58 0 0.00 MYC 4609 genome.wustl.edu 37 8 128750880 128750880 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 128750880 128750880 C T SNP MYC ENST00000377970 human ensembl 70_37 +1 known silent c.417 p.F139 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 35 6 14.63 22 0 0.00 MYC 4609 genome.wustl.edu 37 8 128752825 128752825 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 128752825 128752825 C T SNP MYC ENST00000377970 human ensembl 70_37 +1 known missense c.986 p.S329F 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 57 16 21.92 34 0 0.00 MYCBP 26292 genome.wustl.edu 37 1 39333265 39333265 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 39333265 39333265 C T SNP MYCBP ENST00000397572 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 NULL NULL - no_errors MYCBP HGNC ENSG00000214114 113 23 16.91 120 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77625989 77625989 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 77625989 77625989 C G SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.13712 p.R4571T 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 46 6 11.54 41 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77633672 77633672 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77633672 77633672 C G SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.13126 p.D4376H 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 40 12 23.08 33 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77640190 77640190 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 77640190 77640190 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.12489 p.M4163I 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 28 19 40.43 39 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77670497 77670497 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 77670497 77670497 G A SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.9904 p.R3302C 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 48 21 30.43 52 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77677374 77677374 + RNA SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 13 77677374 77677374 C A SNP MYCBP2 ENST00000462987 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MYCBP2 HGNC ENSG00000005810 23 15 39.47 42 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77695487 77695487 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 77695487 77695487 G T SNP MYCBP2 ENST00000466564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYCBP2 HGNC ENSG00000005810 4 6 60.00 23 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77695598 77695598 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77695598 77695598 G C SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.8050 p.P2684A 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 27 11 28.95 35 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77754359 77754359 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77754359 77754359 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.5036 p.R1679K 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 49 28 36.36 49 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77754364 77754364 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77754364 77754364 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known silent c.5031 p.L1677 0.971 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 45 25 35.71 49 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77817203 77817203 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 77817203 77817203 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2620 p.E874K 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 60 13 17.81 116 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77817206 77817206 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 77817206 77817206 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2617 p.E873K 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 61 13 17.57 119 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77834572 77834572 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 77834572 77834572 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2008 p.D670N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 26 54 67.50 30 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77834572 77834572 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 77834572 77834572 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.2008 p.D670N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 72 53 42.40 105 0 0.00 MYCBP2 23077 genome.wustl.edu 37 13 77862415 77862415 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 13 77862415 77862415 G C SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.475 p.L159V 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 65 41 38.68 130 0 0.00 MYCBP2-AS1 100874212 genome.wustl.edu 37 13 77651182 77651182 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 77651182 77651182 G T SNP MYCBP2-AS1 ENST00000596342 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYCBP2-AS1 HGNC ENSG00000236051 14 3 17.65 26 0 0.00 MYCBP2-AS1 100874212 genome.wustl.edu 37 13 77651193 77651193 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 77651193 77651193 C T SNP MYCBP2-AS1 ENST00000596342 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYCBP2-AS1 HGNC ENSG00000236051 21 15 41.67 21 0 0.00 MYCBPAP 84073 genome.wustl.edu 37 17 48594666 48594666 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 48594666 48594666 C T SNP MYCBPAP ENST00000323776 human ensembl 70_37 +1 known missense c.346 p.R116C 0.902 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 10 7 41.18 50 0 0.00 MYCBPAP 84073 genome.wustl.edu 37 17 48600348 48600348 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48600348 48600348 G A SNP MYCBPAP ENST00000323776 human ensembl 70_37 +1 known missense c.1435 p.E479K 0.984 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 46 30 38.96 84 0 0.00 MYCN 4613 genome.wustl.edu 37 2 16086128 16086128 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 16086128 16086128 C T SNP MYCN ENST00000281043 human ensembl 70_37 +1 known missense c.1304 p.A435V 0.995 superfamily_HLH_dom,smart_HLH_dom pfam_Tscrpt_reg_Myc_N,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 25 13 34.21 57 0 0.00 MYCNOS 10408 genome.wustl.edu 37 2 16076490 16076491 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 16076490 16076491 - T INS MYCNOS ENST00000420452 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors MYCNOS HGNC ENSG00000233718 35 11 23.91 15 0 0.00 MYEF2 50804 genome.wustl.edu 37 15 48450996 48450996 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 48450996 48450996 C G SNP MYEF2 ENST00000324324 human ensembl 70_37 -1 known missense c.841 p.E281Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 49 26 34.67 69 0 0.00 MYEOV 26579 genome.wustl.edu 37 11 69062904 69062904 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 69062904 69062904 C T SNP MYEOV ENST00000308946 human ensembl 70_37 +1 known missense c.83 p.S28F 0.000 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 58 19 24.68 88 0 0.00 MYEOV2 150678 genome.wustl.edu 37 2 241066089 241066089 + Nonsense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 241066089 241066089 G C SNP MYEOV2 ENST00000307266 human ensembl 70_37 -1 known nonsense c.650 p.S217* 0.001 NULL NULL - no_errors MYEOV2 HGNC ENSG00000172428 48 19 28.36 76 0 0.00 MYEOV2 150678 genome.wustl.edu 37 2 241066249 241066249 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 241066249 241066249 G A SNP MYEOV2 ENST00000307266 human ensembl 70_37 -1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors MYEOV2 HGNC ENSG00000172428 29 21 42.00 53 0 0.00 MYF5 4617 genome.wustl.edu 37 12 81111256 81111256 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 81111256 81111256 G C SNP MYF5 ENST00000228644 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF5 HGNC ENSG00000111049 35 15 30.00 43 0 0.00 MYF5 4617 genome.wustl.edu 37 12 81112734 81112734 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 81112734 81112734 C T SNP MYF5 ENST00000228644 human ensembl 70_37 +1 known silent c.672 p.L224 0.989 NULL pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF5 HGNC ENSG00000111049 78 51 39.53 139 0 0.00 MYF6 4618 genome.wustl.edu 37 12 81101604 81101604 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 81101604 81101604 G A SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.106 p.G36R 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC ENSG00000111046 37 26 41.27 94 0 0.00 MYF6 4618 genome.wustl.edu 37 12 81101643 81101643 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 81101643 81101643 C T SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.145 p.P49S 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC ENSG00000111046 24 13 35.14 33 0 0.00 MYF6 4618 genome.wustl.edu 37 12 81101787 81101787 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 81101787 81101787 G T SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.289 p.A97S 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,pfscan_HLH_dom pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC ENSG00000111046 46 12 20.69 75 0 0.00 MYF6 4618 genome.wustl.edu 37 12 81102693 81102693 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 81102693 81102693 C G SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.683 p.S228W 0.974 NULL pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC ENSG00000111046 49 14 22.22 102 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10398307 10398307 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10398307 10398307 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.5407 p.E1803K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 46 37 44.58 153 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10398340 10398340 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 10398340 10398340 G T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.5374 p.Q1792K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 81 16 16.49 113 1 0.87 MYH1 4619 genome.wustl.edu 37 17 10398362 10398362 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 10398362 10398362 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known silent c.5352 p.E1784 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 130 55 29.73 216 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10399833 10399833 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 10399833 10399833 G A SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.4690 p.R1564C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 35 15 30.00 72 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10400712 10400712 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 10400712 10400712 G C SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.4423 p.Q1475E 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 75 22 22.68 97 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10404045 10404045 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 10404045 10404045 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.3763 p.A1255T 0.905 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 26 30 53.57 35 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10406094 10406094 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 10406094 10406094 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known silent c.3072 p.L1024 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 142 65 31.40 136 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10408270 10408270 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10408270 10408270 C G SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.2548 p.E850Q 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 30 17 36.17 39 0 0.00 MYH1 4619 genome.wustl.edu 37 17 10411242 10411242 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10411242 10411242 C G SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.1929 p.K643N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 81 24 22.86 58 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8379172 8379172 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8379172 8379172 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5944 p.E1982K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 41 40 49.38 59 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8381688 8381688 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 8381688 8381688 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5644 p.E1882K 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 36 23 38.98 69 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8381716 8381716 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 8381716 8381716 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.5616 p.L1872 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 71 22 23.66 89 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8384713 8384713 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 8384713 8384713 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5161 p.E1721K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 17 7 29.17 31 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8390882 8390882 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8390882 8390882 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.4885 p.E1629K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 20 12 37.50 24 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8395749 8395749 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 8395749 8395749 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.4507 p.E1503Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 107 30 21.58 139 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 8397095 8397097 CCT - DEL MYH10 ENST00000396239 human ensembl 70_37 -1 known in_frame_del c.4135_4133 p.E1378in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 26 3 10.34 22 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8397165 8397165 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 8397165 8397165 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.4065 p.L1355 0.985 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 14 19 57.58 36 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8408154 8408154 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 8408154 8408154 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.3427 p.E1143K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 46 7 13.21 61 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8424545 8424545 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8424545 8424545 G A SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.1986 p.S662 0.029 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 33 25 42.37 41 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8445559 8445559 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8445559 8445559 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.1441 p.E481Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 53 36 40.00 116 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8449919 8449919 + Silent SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 8449919 8449919 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.1191 p.L397 0.196 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 27 13 32.50 58 0 0.00 MYH10 4628 genome.wustl.edu 37 17 8508240 8508240 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 8508240 8508240 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.406 p.E136Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 30 8 21.05 47 0 0.00 MYH11 4629 genome.wustl.edu 37 16 15814153 15814153 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 15814153 15814153 G A SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.4829 p.T1610M 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 32 11 25.58 65 0 0.00 MYH11 4629 genome.wustl.edu 37 16 15814867 15814867 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 15814867 15814867 C G SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.4641 p.Q1547H 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 82 20 19.61 69 0 0.00 MYH11 4629 genome.wustl.edu 37 16 15832438 15832438 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 15832438 15832438 C G SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.3126 p.M1042I 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 62 8 11.43 70 0 0.00 MYH11 4629 genome.wustl.edu 37 16 15835413 15835413 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 15835413 15835413 C T SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known silent c.2787 p.E929 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 30 26 46.43 18 0 0.00 MYH11 4629 genome.wustl.edu 37 16 15917215 15917215 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 15917215 15917215 G A SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known silent c.399 p.I133 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 54 9 14.29 96 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10209931 10209931 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 10209931 10209931 C T SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.5311 p.E1771K 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 120 21 14.89 115 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10210289 10210289 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10210289 10210289 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.5262 p.N1754 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 27 16 37.21 66 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10210315 10210315 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 10210315 10210315 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.5236 p.E1746Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 91 17 15.74 105 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10212865 10212865 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 10212865 10212865 G C SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.4939 p.L1647V 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 42 32 43.24 51 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10213054 10213054 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10213054 10213054 C T SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.4750 p.D1584N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 19 8 29.63 27 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10215384 10215384 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 10215384 10215384 C A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known nonsense c.4375 p.E1459* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 9 9 50.00 31 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10216514 10216514 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 17 10216514 10216514 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.4142 p.T1381M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 67 46 40.35 102 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10219250 10219250 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 10219250 10219250 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.3831 p.L1277 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 26 9 25.71 49 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10225018 10225018 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 10225018 10225018 T G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.2942 p.N981T 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 55 21 27.63 53 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10227404 10227404 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10227404 10227404 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.2869 p.D957H 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 37 12 24.49 46 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10235467 10235467 + Silent SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 10235467 10235467 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.2247 p.L749 0.945 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 52 11 17.19 65 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10248901 10248901 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 10248901 10248901 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.1296 p.A432 0.692 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 199 76 27.64 222 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10261124 10261124 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10261124 10261124 G C SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.666 p.I222M 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 28 16 36.36 49 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10263307 10263307 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10263307 10263307 C A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.615 p.K205N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 39 15 27.78 58 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10263346 10263346 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10263346 10263346 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.576 p.V192 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 51 31 37.80 77 0 0.00 MYH13 8735 genome.wustl.edu 37 17 10263483 10263483 + Silent SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10263483 10263483 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.528 p.L176 0.333 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 23 11 32.35 24 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50747551 50747551 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 50747551 50747551 G C SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known missense c.1167 p.K389N 0.986 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 53 15 22.06 84 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50758564 50758564 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 50758564 50758564 C T SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known missense c.2033 p.S678F 0.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 51 11 17.74 51 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50760689 50760689 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 50760689 50760689 C G SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.2178 p.L726 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 7 2 22.22 12 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50781447 50781447 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50781447 50781447 G A SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.3933 p.R1311 0.966 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 73 32 30.48 104 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50792782 50792782 + Silent SNP A A T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 50792782 50792782 A T SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.4842 p.T1614 0.993 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 32 6 15.79 32 0 0.00 MYH14 79784 genome.wustl.edu 37 19 50796879 50796879 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 50796879 50796879 G C SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known missense c.5404 p.E1802Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 40 18 31.03 35 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108107819 108107819 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 108107819 108107819 G C SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.5593 p.Q1865E 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 92 28 23.33 43 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108118027 108118027 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 108118027 108118027 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.4884 p.K1628N 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 29 7 19.44 24 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108129586 108129586 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 108129586 108129586 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.4399 p.D1467H 0.949 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 23 6 20.69 27 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108149726 108149726 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 108149726 108149726 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.3325 p.E1109Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 48 11 18.64 37 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108149738 108149738 + Nonsense_Mutation SNP T T A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 108149738 108149738 T A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known nonsense c.3313 p.K1105* 0.289 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 28 4 12.50 31 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108156543 108156543 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 108156543 108156543 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.3139 p.E1047K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 51 7 11.86 44 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108159942 108159942 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 108159942 108159942 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2881 p.E961Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 65 27 29.35 45 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108172877 108172877 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108172877 108172877 T G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2435 p.K812T 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 46 14 23.33 82 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108172921 108172921 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 108172921 108172921 G C SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2391 p.F797L 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 65 19 22.62 102 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108189047 108189047 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 108189047 108189047 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.1456 p.E486Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 78 11 12.22 90 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108195277 108195277 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 108195277 108195277 G A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known silent c.1260 p.N420 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 43 9 17.31 88 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108205277 108205277 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108205277 108205277 G A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.1028 p.A343V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 21 12 36.36 64 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108220642 108220642 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 108220642 108220642 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 68 10 12.82 79 0 0.00 MYH15 22989 genome.wustl.edu 37 3 108224626 108224626 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 108224626 108224626 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.199 p.E67K 0.679 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 37 16 30.19 55 0 0.00 MYH16 84176 genome.wustl.edu 37 7 98845316 98845316 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 98845316 98845316 G A SNP MYH16 ENST00000453194 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors MYH16 HGNC ENSG00000002079 44 19 30.16 30 0 0.00 MYH16 84176 genome.wustl.edu 37 7 98845346 98845346 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 98845346 98845346 G A SNP MYH16 ENST00000453194 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC ENSG00000002079 33 16 32.65 27 0 0.00 MYH16 84176 genome.wustl.edu 37 7 98902340 98902340 + RNA SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 98902340 98902340 G C SNP MYH16 ENST00000453378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC ENSG00000002079 4 10 71.43 21 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10426696 10426696 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 10426696 10426696 G C SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.5506 p.Q1836E 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 45 23 33.82 99 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10427875 10427875 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 10427875 10427875 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.5083 p.R1695W 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 45 10 18.18 75 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10428320 10428320 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 10428320 10428320 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.4725 p.K1575 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 100 17 14.53 76 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10428323 10428323 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 10428323 10428323 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.4722 p.V1574 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 109 20 15.50 103 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10429087 10429087 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10429087 10429087 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.4294 p.E1432K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 27 27 50.00 62 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10429926 10429926 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10429926 10429926 C G SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.4177 p.E1393Q 1.000 pfam_Myosin_tail,superfamily_Ribosomal_L29 pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 34 14 29.17 41 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10430338 10430338 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10430338 10430338 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.3907 p.L1303 0.330 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 21 14 40.00 53 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10432195 10432195 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 10432195 10432195 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.3556 p.E1186K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 101 19 15.83 95 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10432905 10432905 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 10432905 10432905 G C SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.3093 p.I1031M 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 173 61 26.07 265 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10435166 10435166 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10435166 10435166 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.2481 p.F827 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 56 13 18.84 33 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10436605 10436605 + Missense_Mutation SNP C C A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 10436605 10436605 C A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.2438 p.R813I 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 46 18 28.12 66 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10440596 10440596 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 10440596 10440596 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.1851 p.M617I 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 20 24 54.55 78 0 0.00 MYH2 4620 genome.wustl.edu 37 17 10448678 10448678 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10448678 10448678 G T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.490 p.Q164K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 159 58 26.73 205 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10532970 10532970 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 10532970 10532970 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.5740 p.A1914T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 30 4 11.76 43 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10534957 10534957 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 10534957 10534957 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.5257 p.E1753K 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 57 43 43.00 96 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10535838 10535838 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 10535838 10535838 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.4911 p.A1637 0.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 21 14 40.00 34 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10536037 10536037 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 10536037 10536037 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4712 p.S1571L 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 36 22 37.93 53 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10537357 10537357 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10537357 10537357 T G SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4499 p.K1500T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 26 12 31.58 66 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10538311 10538311 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 10538311 10538311 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4202 p.S1401F 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 53 11 17.19 60 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10541420 10541420 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 10541420 10541420 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.3669 p.S1223 0.998 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 60 35 36.46 94 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10542717 10542717 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 10542717 10542717 G C SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.3000 p.L1000 0.976 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 21 29 58.00 97 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10547729 10547729 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 10547729 10547729 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.1349 p.T450M 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 61 37 37.76 69 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10558218 10558218 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 10558218 10558218 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.164 p.S55F 0.004 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 266 72 21.30 409 0 0.00 MYH3 4621 genome.wustl.edu 37 17 10558294 10558294 + Nonsense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 10558294 10558294 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known nonsense c.88 p.Q30* 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 64 52 44.83 137 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10353794 10353794 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 10353794 10353794 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.4157 p.R1386H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 9 11 55.00 41 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10356223 10356223 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10356223 10356223 C A SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.3138 p.K1046N 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 29 27 48.21 111 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10356553 10356553 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 10356553 10356553 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known silent c.3027 p.Q1009 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 94 64 40.51 151 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10357006 10357006 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 10357006 10357006 A G SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.2888 p.L963P 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 100 52 34.21 212 1 0.47 MYH4 4622 genome.wustl.edu 37 17 10357178 10357178 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10357178 10357178 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.2716 p.E906K 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 41 15 26.79 49 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10360825 10360825 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10360825 10360825 G C SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known silent c.1809 p.P603 0.997 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 65 20 23.53 58 0 0.00 MYH4 4622 genome.wustl.edu 37 17 10364245 10364245 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 10364245 10364245 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.1135 p.D379N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 30 24 44.44 45 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23853875 23853875 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 23853875 23853875 G T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.5341 p.L1781M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 34 4 10.53 30 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23857474 23857474 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 23857474 23857474 C G SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.4249 p.E1417Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 66 45 40.54 137 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23862233 23862233 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 23862233 23862233 G A SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.3139 p.R1047C 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 31 5 13.89 81 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23863481 23863481 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 23863481 23863481 C G SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.2481 p.K827N 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 14 26 65.00 24 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23866005 23866005 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 14 23866005 23866005 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known silent c.2190 p.V730 0.369 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 42 13 23.21 44 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23866751 23866751 + Splice_Site SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 23866751 23866751 C A SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known splice_site c.1962+1 e14+1 1.000 - - - no_errors MYH6 HGNC ENSG00000197616 23 13 36.11 54 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23869468 23869468 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 23869468 23869468 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known silent c.1578 p.E526 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 98 40 28.99 122 0 0.00 MYH6 4624 genome.wustl.edu 37 14 23871733 23871733 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 23871733 23871733 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.1081 p.G361R 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 174 47 21.27 194 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23884243 23884243 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23884243 23884243 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.5520 p.M1840I 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 38 22 36.67 59 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23884676 23884676 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 23884676 23884676 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.5197 p.D1733N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 87 20 18.69 95 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23884898 23884898 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 23884898 23884898 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.5097 p.R1699 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 59 31 34.44 48 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23884925 23884925 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 23884925 23884925 G A SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.5070 p.A1690 0.085 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 37 16 29.63 78 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23885517 23885517 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 23885517 23885517 G A SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.4649 p.S1550F 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 27 7 20.59 32 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23893302 23893302 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 23893302 23893302 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.2736 p.K912 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 63 23 26.74 67 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23894516 23894516 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 23894516 23894516 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.2398 p.E800K 1.000 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 123 20 13.99 147 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23894521 23894521 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 23894521 23894521 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.2393 p.R798K 1.000 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 122 21 14.69 156 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23896894 23896894 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23896894 23896894 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.1788 p.K596N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 47 60 56.07 103 1 0.96 MYH7 4625 genome.wustl.edu 37 14 23899789 23899789 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23899789 23899789 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.979 p.E327K 0.997 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 39 21 35.00 69 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23900167 23900167 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 23900167 23900167 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.838 p.E280K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 197 26 11.61 233 0 0.00 MYH7 4625 genome.wustl.edu 37 14 23902431 23902431 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23902431 23902431 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.207 p.V69 1.000 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 41 10 19.61 49 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33565461 33565461 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 33565461 33565461 C A SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.32 p.S11Y 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 28 12 30.00 78 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33567553 33567553 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 20 33567553 33567553 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel silent c.414 p.N138 0.996 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 12 10 45.45 61 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33568502 33568502 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 33568502 33568502 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.590 p.A197V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 27 8 22.86 29 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33575936 33575936 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 33575936 33575936 G C SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.1584 p.E528D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 42 13 23.64 90 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33577924 33577927 + Frame_Shift_Del DEL TGAG TGAG - TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 TGAG TGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 33577924 33577927 TGAG - DEL MYH7B ENST00000262873 human ensembl 70_37 +1 novel frame_shift_del c.2001_2004 p.Y667fs 0.997:1.000:1.000:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 185 64 25.70 237 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33587058 33587058 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 20 33587058 33587058 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.4516 p.R1506W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 45 35 43.75 30 0 0.00 MYH7B 57644 genome.wustl.edu 37 20 33588263 33588263 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 20 33588263 33588263 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.5075 p.T1692M 0.905 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 20 7 25.93 29 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10297722 10297722 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10297722 10297722 G A SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.5010 p.L1670 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 47 38 44.71 66 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10300225 10300225 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 10300225 10300225 C T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.4257 p.K1419 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 41 10 19.61 62 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10302917 10302917 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 10302917 10302917 G A SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known nonsense c.3805 p.Q1269* 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 26 41 61.19 138 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10304060 10304060 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 10304060 10304060 C G SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3382 p.E1128Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 53 20 27.40 80 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10304411 10304411 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 10304411 10304411 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3206 p.T1069K 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 120 78 39.00 197 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10304411 10304411 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 10304411 10304411 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3206 p.T1069K 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 43 34 44.16 30 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10304986 10304986 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 10304986 10304986 G C SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.2805 p.I935M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 4 23 85.19 34 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10304986 10304986 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 10304986 10304986 G C SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.2805 p.I935M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 63 131 67.53 313 1 0.32 MYH8 4626 genome.wustl.edu 37 17 10312482 10312482 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10312482 10312482 C G SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known splice_site c.1898-1 e15-1 1.000 - - - no_errors MYH8 HGNC ENSG00000133020 41 24 36.92 35 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10317337 10317337 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 10317337 10317337 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.1029 p.G343 0.961 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 36 39 52.00 87 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10317799 10317799 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10317799 10317799 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.808 p.L270I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 5 3 37.50 24 0 0.00 MYH8 4626 genome.wustl.edu 37 17 10322273 10322273 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10322273 10322273 C T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.285 p.M95I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 111 42 27.45 89 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36680288 36680288 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 36680288 36680288 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.5616 p.L1872 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 8 8 50.00 23 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36682865 36682865 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 36682865 36682865 G T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.4960 p.L1654M 1.000 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 99 35 26.12 166 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36684327 36684327 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 36684327 36684327 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.4903 p.E1635K 0.998 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 148 17 10.30 191 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36684429 36684429 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36684429 36684429 C A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.4801 p.E1601* 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 101 36 26.28 174 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36685206 36685206 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 22 36685206 36685206 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.4482 p.E1494 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 27 7 20.59 55 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36689418 36689419 + In_Frame_Ins INS - - CCT TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 22 36689418 36689419 - CCT INS MYH9 ENST00000216181 human ensembl 70_37 -1 known in_frame_ins c.4052_4051 p.1351in_frame_insE 1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 42 14 25.00 27 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36689418 36689419 + In_Frame_Ins INS - - CCT TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 22 36689418 36689419 - CCT INS MYH9 ENST00000216181 human ensembl 70_37 -1 known in_frame_ins c.4052_4051 p.1351in_frame_insE 1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 71 18 20.22 80 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36690135 36690136 + Splice_Site INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 36690135 36690136 - A INS MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site_ins c.3837+2_3837+1 e27+2 1.000:1.000 - - - no_errors MYH9 HGNC ENSG00000100345 28 15 34.88 33 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36690135 36690136 + Splice_Site INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 36690135 36690136 - A INS MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site_ins c.3837+2_3837+1 e27+2 1.000:1.000 - - - no_errors MYH9 HGNC ENSG00000100345 40 35 46.67 113 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36691588 36691588 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36691588 36691588 C A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.3448 p.D1150Y 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 28 8 22.22 30 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36691727 36691727 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 36691727 36691727 G C SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.3309 p.L1103 0.648 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 11 6 35.29 16 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36691764 36691764 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36691764 36691764 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site c.3273-1 e25-1 1.000 - - - no_errors MYH9 HGNC ENSG00000100345 12 7 36.84 13 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36696217 36696217 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36696217 36696217 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2932 p.E978Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 75 21 21.65 61 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36697588 36697588 + Nonsense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 22 36697588 36697588 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.2623 p.Q875* 0.991 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 35 4 10.26 38 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36697735 36697735 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 36697735 36697735 G A SNP MYH9 ENST00000495928 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors MYH9 HGNC ENSG00000100345 14 16 53.33 23 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36700097 36700097 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 36700097 36700097 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2334 p.K778N 1.000 smart_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 32 14 30.43 57 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36700117 36700117 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 36700117 36700117 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2314 p.E772K 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 27 10 26.32 50 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36705359 36705359 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36705359 36705359 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1811 p.S604F 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 37 25 40.32 61 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 36708234 36708234 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1588 p.E530K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 68 19 21.84 105 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36710324 36710324 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36710324 36710324 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1420 p.E474Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 79 22 21.78 101 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36712675 36712675 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 36712675 36712675 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1267 p.E423K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 66 18 21.43 94 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36717842 36717842 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 36717842 36717842 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.730 p.D244N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 37 17 31.48 69 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36718516 36718516 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 36718516 36718516 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.663 p.F221 0.915 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 72 12 14.29 104 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36744962 36744962 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36744962 36744962 G C SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.320 p.S107* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 38 11 22.45 42 0 0.00 MYH9 4627 genome.wustl.edu 37 22 36745184 36745184 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36745184 36745184 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.98 p.W33* 1.000 pfam_Myosin_N,superfamily_Myosin_S1_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 39 11 22.00 50 0 0.00 MYL1 4632 genome.wustl.edu 37 2 211167231 211167231 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211167231 211167231 G T SNP MYL1 ENST00000352451 human ensembl 70_37 -1 known missense c.141 p.F47L 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC ENSG00000168530 8 14 63.64 36 0 0.00 MYL1 4632 genome.wustl.edu 37 2 211179765 211179766 + Frame_Shift_Ins INS - - T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 211179765 211179766 - T INS MYL1 ENST00000352451 human ensembl 70_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC ENSG00000168530 69 26 27.37 85 0 0.00 MYL1 4632 genome.wustl.edu 37 2 211179766 211179766 + Frame_Shift_Del DEL T T - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 211179766 211179766 T - DEL MYL1 ENST00000352451 human ensembl 70_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC ENSG00000168530 65 46 41.44 103 0 0.00 MYL12A 10627 genome.wustl.edu 37 18 3253901 3253901 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 3253901 3253901 G A SNP MYL12A ENST00000217652 human ensembl 70_37 +1 known missense c.196 p.D66N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 23 17 42.50 54 0 0.00 MYL12A 10627 genome.wustl.edu 37 18 3255744 3255744 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 3255744 3255744 G A SNP MYL12A ENST00000217652 human ensembl 70_37 +1 known missense c.344 p.G115D 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 5 16 76.19 44 0 0.00 MYL3 4634 genome.wustl.edu 37 3 46900986 46900986 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 46900986 46900986 G A SNP MYL3 ENST00000292327 human ensembl 70_37 -1 known missense c.460 p.R154C 1.000 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors MYL3 HGNC ENSG00000160808 45 48 51.61 60 0 0.00 MYL3 4634 genome.wustl.edu 37 3 46904775 46904775 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 46904775 46904775 C T SNP MYL3 ENST00000292327 human ensembl 70_37 -1 known missense c.106 p.E36K 0.218 NULL pfscan_EF_HAND_2 - no_errors MYL3 HGNC ENSG00000160808 59 30 33.71 81 0 0.00 MYL5 4636 genome.wustl.edu 37 4 672505 672505 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 672505 672505 C T SNP MYL5 ENST00000400159 human ensembl 70_37 +1 known missense c.62 p.S21F 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL5 HGNC ENSG00000215375 27 8 22.86 57 0 0.00 MYL6 4637 genome.wustl.edu 37 12 56553368 56553368 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 56553368 56553368 C G SNP MYL6 ENST00000552297 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors MYL6 HGNC ENSG00000092841 70 43 38.05 65 0 0.00 MYL6B 140465 genome.wustl.edu 37 12 56549364 56549364 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56549364 56549364 C G SNP MYL6B ENST00000207437 human ensembl 70_37 +1 known missense c.508 p.L170V 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL6B HGNC ENSG00000196465 20 26 56.52 61 0 0.00 MYL7 58498 genome.wustl.edu 37 7 44178493 44178494 + RNA INS - - C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44178493 44178494 - C INS MYL7 ENST00000434895 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MYL7 HGNC ENSG00000106631 57 13 18.57 98 0 0.00 MYL9 10398 genome.wustl.edu 37 20 35173466 35173466 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 35173466 35173466 C T SNP MYL9 ENST00000279022 human ensembl 70_37 +1 known missense c.179 p.S60L 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL9 HGNC ENSG00000101335 29 36 54.55 33 0 0.00 MYLK 4638 genome.wustl.edu 37 3 123385156 123385156 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 123385156 123385156 C T SNP MYLK ENST00000360304 human ensembl 70_37 -1 known silent c.3741 p.Q1247 0.988 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 41 13 24.07 62 0 0.00 MYLK 4638 genome.wustl.edu 37 3 123419273 123419273 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 123419273 123419273 C T SNP MYLK ENST00000360304 human ensembl 70_37 -1 known silent c.3042 p.L1014 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 58 20 25.64 51 0 0.00 MYLK 4638 genome.wustl.edu 37 3 123419838 123419838 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 123419838 123419838 G A SNP MYLK ENST00000360304 human ensembl 70_37 -1 known missense c.2477 p.A826V 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 20 8 28.57 51 0 0.00 MYLK 4638 genome.wustl.edu 37 3 123512627 123512627 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 3 123512627 123512627 G A SNP MYLK ENST00000360304 human ensembl 70_37 -1 known missense c.62 p.P21L 0.011 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 24 10 27.78 42 0 0.00 MYLK-AS1 100506826 genome.wustl.edu 37 3 123348514 123348514 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 123348514 123348514 G T SNP MYLK-AS1 ENST00000463408 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYLK-AS1 HGNC ENSG00000239523 32 4 11.11 36 0 0.00 MYLK3 91807 genome.wustl.edu 37 16 46746648 46746648 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 46746648 46746648 G A SNP MYLK3 ENST00000394809 human ensembl 70_37 -1 known missense c.2026 p.P676S 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MYLK3 HGNC ENSG00000140795 59 24 28.57 84 0 0.00 MYLK3 91807 genome.wustl.edu 37 16 46766398 46766398 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 46766398 46766398 T G SNP MYLK3 ENST00000394809 human ensembl 70_37 -1 known missense c.1184 p.E395A 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MYLK3 HGNC ENSG00000140795 13 6 31.58 28 0 0.00 MYLK4 340156 genome.wustl.edu 37 6 2749514 2749514 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 2749514 2749514 C G SNP MYLK4 ENST00000268446 human ensembl 70_37 -1 known missense c.15 p.K5N 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MYLK4 HGNC ENSG00000145949 198 33 14.29 197 0 0.00 MYLPF 29895 genome.wustl.edu 37 16 30387760 30387760 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30387760 30387760 G C SNP MYLPF ENST00000322861 human ensembl 70_37 +1 known missense c.189 p.K63N 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYLPF HGNC ENSG00000180209 41 9 18.00 64 0 0.00 MYLPF 29895 genome.wustl.edu 37 16 30388990 30388990 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 30388990 30388990 G A SNP MYLPF ENST00000322861 human ensembl 70_37 +1 known silent c.372 p.L124 0.337 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYLPF HGNC ENSG00000180209 27 15 35.71 62 0 0.00 MYNN 55892 genome.wustl.edu 37 3 169492152 169492152 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 169492152 169492152 C G SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.69 p.L23 0.994 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 80 16 16.67 76 0 0.00 MYNN 55892 genome.wustl.edu 37 3 169496595 169496595 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 169496595 169496595 C G SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 89 21 19.09 87 0 0.00 MYNN 55892 genome.wustl.edu 37 3 169496994 169496994 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 169496994 169496994 C A SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.705 p.L235 0.626 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 23 11 32.35 45 0 0.00 MYNN 55892 genome.wustl.edu 37 3 169496994 169496994 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 169496994 169496994 C A SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.705 p.L235 0.626 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 25 13 34.21 34 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16701893 16701893 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 16701893 16701893 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.2611 p.E871K 0.820 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 60 27 31.03 88 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16703225 16703225 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 16703225 16703225 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known silent c.2319 p.Q773 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 27 33 55.00 48 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16711116 16711116 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 16711116 16711116 C G SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.2070 p.M690I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 31 24 43.64 32 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16755013 16755013 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 16755013 16755013 G A SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1853 p.S618L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 90 21 18.92 71 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16761604 16761604 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 16761604 16761604 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1708 p.D570N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 55 11 16.67 52 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16762719 16762719 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 16762719 16762719 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1522 p.E508K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 133 21 13.64 81 0 0.00 MYO10 4651 genome.wustl.edu 37 5 16818160 16818160 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 16818160 16818160 G A SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known silent c.237 p.I79 0.995 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 34 17 33.33 25 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18022172 18022172 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 18022172 18022172 G T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.58 p.A20S 0.683 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 40 7 14.89 52 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18023258 18023258 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 17 18023258 18023258 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.1144 p.E382K 0.655 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 33 28 45.90 85 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18023395 18023395 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 17 18023395 18023395 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.1281 p.H427 0.996 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 63 19 23.17 92 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18023480 18023480 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 18023480 18023480 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.1366 p.A456T 0.293 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 31 13 29.55 49 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18025307 18025307 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 18025307 18025307 C A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.3193 p.L1065M 0.757 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 52 17 24.64 67 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18025405 18025405 + Silent SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 18025405 18025405 A C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.3291 p.P1097 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 11 19 63.33 66 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18025405 18025405 + Silent SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 18025405 18025405 A C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.3291 p.P1097 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 56 8 12.50 73 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18045516 18045516 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 18045516 18045516 C G SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.5773 p.L1925V 0.995 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 33 7 17.50 49 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18045527 18045527 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18045527 18045527 G C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.5784 p.K1928N 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 58 9 13.24 51 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18052198 18052198 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 18052198 18052198 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.6888 p.F2296 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 32 62 65.96 98 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18055214 18055214 + Silent SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 18055214 18055214 G T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.7842 p.L2614 0.987 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 21 4 16.00 38 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18060373 18060373 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 18060373 18060373 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known nonsense c.8707 p.R2903* 0.048 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 48 13 21.31 63 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18061908 18061908 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 18061908 18061908 C G SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.9039 p.L3013 0.888 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 32 13 28.89 41 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18064645 18064645 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 18064645 18064645 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.9401 p.R3134Q 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 15 10 40.00 36 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18067105 18067105 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 17 18067105 18067105 G T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.9740 p.R3247L 0.002 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 11 3 21.43 43 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18067132 18067132 + Missense_Mutation SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 17 18067132 18067132 T C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.9767 p.I3256T 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 22 7 24.14 30 0 0.00 MYO15A 51168 genome.wustl.edu 37 17 18075537 18075537 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 18075537 18075537 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.10283 p.A3428V 0.095 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 37 11 22.92 27 0 0.00 MYO15B 80022 genome.wustl.edu 37 17 73585671 73585671 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73585671 73585671 G C SNP MYO15B ENST00000578382 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYO15B Uniprot_genename ENSG00000266714 11 4 26.67 12 0 0.00 MYO15B 80022 genome.wustl.edu 37 17 73620043 73620043 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 73620043 73620043 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.344 p.R115Q 0.245 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC ENSG00000188126 16 4 20.00 31 0 0.00 MYO15B 80022 genome.wustl.edu 37 17 73620961 73620961 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73620961 73620961 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.826 p.D276N 0.040 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC ENSG00000188126 18 10 35.71 66 0 0.00 MYO15B 80022 genome.wustl.edu 37 17 73621254 73621254 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 73621254 73621254 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.913 p.A305T 0.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC ENSG00000188126 42 15 26.32 34 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109365026 109365026 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 109365026 109365026 G C SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.244 p.E82Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 48 7 12.73 36 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109365049 109365049 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 109365049 109365049 C A SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.267 p.L89 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 18 6 25.00 30 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109365057 109365057 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 109365057 109365057 C T SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.275 p.S92L 0.989 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 17 5 22.73 30 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109445889 109445889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 109445889 109445889 G C SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.576 p.Q192H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 19 9 32.14 47 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109772765 109772765 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 109772765 109772765 C G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.3420 p.L1140 0.807 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 28 13 31.71 22 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109779887 109779887 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 13 109779887 109779887 C T SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.3974 p.A1325V 0.007 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 20 13 39.39 52 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109793204 109793204 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 109793204 109793204 C G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.4578 p.L1526 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 5 8 61.54 13 0 0.00 MYO16 23026 genome.wustl.edu 37 13 109831945 109831945 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 13 109831945 109831945 G T SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.5313 p.S1771 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 29 12 29.27 44 0 0.00 MYO18A 399687 genome.wustl.edu 37 17 27425864 27425864 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 27425864 27425864 C A SNP MYO18A ENST00000354329 human ensembl 70_37 -1 known nonsense c.3760 p.E1254* 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 54 17 23.94 51 0 0.00 MYO18A 399687 genome.wustl.edu 37 17 27430627 27430627 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 27430627 27430627 C G SNP MYO18A ENST00000354329 human ensembl 70_37 -1 known missense c.3497 p.G1166A 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 80 11 12.09 80 0 0.00 MYO18A 399687 genome.wustl.edu 37 17 27438756 27438756 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 27438756 27438756 C T SNP MYO18A ENST00000354329 human ensembl 70_37 -1 known silent c.2724 p.Q908 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 38 31 44.93 58 0 0.00 MYO18B 84700 genome.wustl.edu 37 22 26164199 26164199 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 26164199 26164199 G A SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known missense c.316 p.G106S 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 37 6 13.95 41 0 0.00 MYO18B 84700 genome.wustl.edu 37 22 26164885 26164885 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26164885 26164885 G T SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known missense c.1002 p.K334N 0.003 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 19 9 32.14 43 0 0.00 MYO19 80179 genome.wustl.edu 37 17 34856777 34856777 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34856777 34856777 C T SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.2270 p.R757H 0.988 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 16 13 44.83 35 0 0.00 MYO19 80179 genome.wustl.edu 37 17 34856921 34856921 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34856921 34856921 C T SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.2235 p.M745I 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 21 15 41.67 49 0 0.00 MYO19 80179 genome.wustl.edu 37 17 34870339 34870339 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 34870339 34870339 G C SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.670 p.R224G 0.887 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 31 6 16.22 47 0 0.00 MYO1A 4640 genome.wustl.edu 37 12 57430602 57430602 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57430602 57430602 A C SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.2228 p.I743R 0.996 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 33 5 13.16 54 0 0.00 MYO1A 4640 genome.wustl.edu 37 12 57432326 57432326 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57432326 57432326 G A SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.1630 p.R544W 0.447 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 15 12 44.44 36 0 0.00 MYO1A 4640 genome.wustl.edu 37 12 57433069 57433069 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57433069 57433069 G C SNP MYO1A ENST00000476795 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYO1A HGNC ENSG00000166866 70 18 20.45 102 0 0.00 MYO1A 4640 genome.wustl.edu 37 12 57436875 57436875 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57436875 57436875 C T SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.1079 p.R360Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 30 6 16.67 32 0 0.00 MYO1B 4430 genome.wustl.edu 37 2 192227049 192227049 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 192227049 192227049 G A SNP MYO1B ENST00000304164 human ensembl 70_37 +1 known silent c.717 p.S239 0.001 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 8 39 82.98 47 0 0.00 MYO1B 4430 genome.wustl.edu 37 2 192246290 192246290 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 192246290 192246290 G A SNP MYO1B ENST00000304164 human ensembl 70_37 +1 known missense c.1288 p.E430K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 6 7 50.00 19 0 0.00 MYO1B 4430 genome.wustl.edu 37 2 192255199 192255199 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 192255199 192255199 C A SNP MYO1B ENST00000304164 human ensembl 70_37 +1 known missense c.1963 p.H655N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 30 8 21.05 35 0 0.00 MYO1C 4641 genome.wustl.edu 37 17 1370785 1370785 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 1370785 1370785 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.3054 p.I1018 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 39 10 20.41 104 0 0.00 MYO1C 4641 genome.wustl.edu 37 17 1371352 1371352 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 1371352 1371352 G C SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.2826 p.L942 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 28 19 40.43 53 0 0.00 MYO1C 4641 genome.wustl.edu 37 17 1377928 1377928 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1377928 1377928 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.1773 p.L591 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 11 35 76.09 79 0 0.00 MYO1C 4641 genome.wustl.edu 37 17 1381435 1381435 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 1381435 1381435 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.1347 p.F449 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 22 8 26.67 44 0 0.00 MYO1D 4642 genome.wustl.edu 37 17 30980882 30980882 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 30980882 30980882 G C SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.2574 p.L858 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 32 24 42.86 76 0 0.00 MYO1D 4642 genome.wustl.edu 37 17 30981585 30981585 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 30981585 30981585 G C SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.2400 p.V800 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 19 9 32.14 22 0 0.00 MYO1D 4642 genome.wustl.edu 37 17 31048064 31048064 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 31048064 31048064 C T SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.1890 p.Q630 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 26 18 40.91 51 0 0.00 MYO1D 4642 genome.wustl.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 31048090 31048090 G A SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known missense c.1864 p.R622C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 30 10 25.00 52 0 0.00 MYO1E 4643 genome.wustl.edu 37 15 59430493 59430493 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59430493 59430493 G A SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known nonsense c.3154 p.Q1052* 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 31 8 20.51 30 0 0.00 MYO1E 4643 genome.wustl.edu 37 15 59553670 59553670 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 59553670 59553670 G C SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known missense c.186 p.F62L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 16 14 45.16 30 0 0.00 MYO1E 4643 genome.wustl.edu 37 15 59553683 59553683 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59553683 59553683 G C SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known nonsense c.173 p.S58* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 14 11 44.00 25 0 0.00 MYO1F 4542 genome.wustl.edu 37 19 8587697 8587697 + Silent SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 8587697 8587697 C A SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known silent c.2871 p.G957 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 21 12 36.36 35 0 0.00 MYO1F 4542 genome.wustl.edu 37 19 8595361 8595361 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 8595361 8595361 C T SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known missense c.2140 p.E714K 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 26 6 18.75 20 0 0.00 MYO1F 4542 genome.wustl.edu 37 19 8616752 8616752 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 8616752 8616752 C A SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known nonsense c.643 p.E215* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 63 17 20.99 73 0 0.00 MYO1F 4542 genome.wustl.edu 37 19 8620554 8620554 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 8620554 8620554 C T SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known missense c.130 p.D44N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 64 13 16.88 64 0 0.00 MYO1G 64005 genome.wustl.edu 37 7 45015178 45015178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 45015178 45015178 G C SNP MYO1G ENST00000258787 human ensembl 70_37 -1 known missense c.469 p.H157D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 46 12 20.69 60 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109834304 109834304 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 109834304 109834304 G A SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.358 p.E120K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 47 6 11.32 73 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109838973 109838973 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 109838973 109838973 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.598 p.R200W 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 36 27 42.19 63 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109843778 109843778 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 109843778 109843778 G C SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.853 p.E285Q 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 7 38 84.44 80 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109872885 109872885 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109872885 109872885 G T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known nonsense c.2089 p.E697* 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 33 19 36.54 52 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109877536 109877536 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 109877536 109877536 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.2377 p.H793Y 0.892 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 49 6 10.91 65 0 0.00 MYO1H 283446 genome.wustl.edu 37 12 109878605 109878605 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 109878605 109878605 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known silent c.2493 p.R831 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC ENSG00000174527 32 11 25.58 52 0 0.00 MYO3A 53904 genome.wustl.edu 37 10 26417425 26417425 + Silent SNP A A G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 26417425 26417425 A G SNP MYO3A ENST00000265944 human ensembl 70_37 +1 known silent c.2220 p.Q740 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 43 8 15.69 63 0 0.00 MYO3A 53904 genome.wustl.edu 37 10 26500868 26500868 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 26500868 26500868 C A SNP MYO3A ENST00000543632 human ensembl 70_37 +1 known missense c.1873 p.P625T 0.862 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 39 10 20.41 53 0 0.00 MYO3B 140469 genome.wustl.edu 37 2 171070968 171070968 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 171070968 171070968 C T SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known missense c.428 p.S143L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 46 17 26.56 57 0 0.00 MYO3B 140469 genome.wustl.edu 37 2 171071299 171071299 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 171071299 171071299 C A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known missense c.514 p.L172I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 25 16 39.02 54 0 0.00 MYO3B 140469 genome.wustl.edu 37 2 171258178 171258178 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 171258178 171258178 C T SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known silent c.2133 p.L711 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 21 10 32.26 41 0 0.00 MYO3B 140469 genome.wustl.edu 37 2 171262054 171262054 + Splice_Site SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 171262054 171262054 G A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known splice_site c.2459-1 e21-1 1.000 - - - no_errors MYO3B HGNC ENSG00000071909 41 8 16.33 42 0 0.00 MYO3B 140469 genome.wustl.edu 37 2 171264296 171264296 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 171264296 171264296 G A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known silent c.2619 p.L873 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 86 40 31.75 60 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52630033 52630033 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 52630033 52630033 G A SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.4288 p.R1430W 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 23 17 42.50 80 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52632455 52632455 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52632455 52632455 G T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.4177 p.P1393T 0.999 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 13 4 23.53 22 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52645825 52645825 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 52645825 52645825 C T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.3598 p.E1200K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 41 12 22.64 62 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52656783 52656783 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 52656783 52656783 C T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.3277 p.D1093N 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 13 5 27.78 18 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52664329 52664329 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 15 52664329 52664329 C G SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.2809 p.D937H 0.995 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 141 18 11.32 133 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52671836 52671836 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 52671836 52671836 C T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.2194 p.E732K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 127 55 30.05 192 0 0.00 MYO5A 4644 genome.wustl.edu 37 15 52697558 52697558 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 52697558 52697558 G A SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 55 15 21.43 53 0 0.00 MYO5B 4645 genome.wustl.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 47363917 47363917 A G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.5108 p.V1703A 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 72 9 11.11 57 0 0.00 MYO5B 4645 genome.wustl.edu 37 18 47429194 47429194 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 47429194 47429194 C G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.2581 p.E861Q 0.937 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 12 31 72.09 62 0 0.00 MYO5B 4645 genome.wustl.edu 37 18 47463690 47463690 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 47463690 47463690 C G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known silent c.1830 p.S610 0.173 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 50 33 39.29 89 0 0.00 MYO5B 4645 genome.wustl.edu 37 18 47480737 47480737 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 47480737 47480737 G T SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.1614 p.F538L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 75 14 15.73 124 0 0.00 MYO5B 4645 genome.wustl.edu 37 18 47500758 47500758 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 47500758 47500758 G C SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known silent c.1284 p.L428 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 58 16 21.62 85 0 0.00 MYO5C 55930 genome.wustl.edu 37 15 52513369 52513369 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 15 52513369 52513369 C G SNP MYO5C ENST00000261839 human ensembl 70_37 -1 known missense c.3711 p.E1237D 0.930 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 60 7 10.45 68 0 0.00 MYO5C 55930 genome.wustl.edu 37 15 52553091 52553091 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 52553091 52553091 C T SNP MYO5C ENST00000261839 human ensembl 70_37 -1 known silent c.1281 p.Q427 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 18 11 37.93 33 0 0.00 MYO6 4646 genome.wustl.edu 37 6 76550344 76550344 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 76550344 76550344 G A SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.596 p.R199H 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 7 4 36.36 20 0 0.00 MYO6 4646 genome.wustl.edu 37 6 76589832 76589832 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 76589832 76589832 G C SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.2281 p.G761R 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 28 28 50.00 52 0 0.00 MYO6 4646 genome.wustl.edu 37 6 76596683 76596683 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 76596683 76596683 C G SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.2630 p.S877C 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 21 18 46.15 27 0 0.00 MYO7A 4647 genome.wustl.edu 37 11 76868334 76868334 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 76868334 76868334 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.745 p.E249K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 41 21 33.87 57 0 0.00 MYO7A 4647 genome.wustl.edu 37 11 76871234 76871234 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 76871234 76871234 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.1106 p.C369Y 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 8 77 90.59 104 0 0.00 MYO7A 4647 genome.wustl.edu 37 11 76892542 76892542 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 76892542 76892542 C G SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known silent c.2811 p.V937 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 44 22 33.33 46 0 0.00 MYO7A 4647 genome.wustl.edu 37 11 76919742 76919742 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 76919742 76919742 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.5945 p.G1982E 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 17 14 45.16 84 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128324316 128324316 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 128324316 128324316 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.384 p.G128 0.039 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 18 8 29.63 22 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128335752 128335752 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 128335752 128335752 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.894 p.Y298 0.304 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 45 32 41.56 38 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128340010 128340010 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 128340010 128340010 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.1332 p.F444 0.691 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 21 12 36.36 26 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128341727 128341727 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 128341727 128341727 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.1374 p.N458 0.044 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 54 26 32.50 66 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128350378 128350378 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 128350378 128350378 C A SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.2002 p.R668 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 34 4 10.53 46 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128350456 128350456 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 128350456 128350456 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.2080 p.R694C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 115 13 10.16 90 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128366440 128366440 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 128366440 128366440 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.2801 p.S934L 0.174 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 19 11 36.67 35 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128379604 128379604 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 128379604 128379604 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.3495 p.F1165 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 52 12 18.75 48 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128380923 128380923 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 128380923 128380923 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.3714 p.F1238 0.996 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 34 9 20.93 31 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128387388 128387388 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 128387388 128387388 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.4715 p.S1572L 0.998 superfamily_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 44 11 20.00 106 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128388905 128388905 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 128388905 128388905 G A SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.4984 p.D1662N 0.736 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 72 53 42.40 103 0 0.00 MYO7B 4648 genome.wustl.edu 37 2 128394377 128394377 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 128394377 128394377 C G SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.6141 p.L2047 0.980 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 61 7 10.29 69 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72119066 72119066 + Missense_Mutation SNP T T G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 72119066 72119066 T G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.7715 p.K2572T 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 28 17 37.78 40 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72120255 72120255 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 72120255 72120255 C A SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known nonsense c.7366 p.E2456* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 26 7 21.21 38 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72142438 72142438 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72142438 72142438 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.6865 p.L2289V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 50 31 38.27 67 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72144517 72144517 + Missense_Mutation SNP G G C TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 15 72144517 72144517 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.6644 p.P2215R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 25 21 45.65 33 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72172110 72172110 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 72172110 72172110 C T SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known silent c.5904 p.L1968 0.999 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 17 5 22.73 21 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72231235 72231235 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72231235 72231235 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.2336 p.S779C 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 131 31 19.02 169 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72252262 72252262 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 72252262 72252262 C T SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.2162 p.R721K 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 25 11 30.56 60 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72311419 72311419 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72311419 72311419 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known silent c.1116 p.L372 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 14 15 51.72 27 0 0.00 MYO9A 4649 genome.wustl.edu 37 15 72313282 72313282 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 72313282 72313282 C G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 31 35 53.03 45 0 0.00 MYO9B 4650 genome.wustl.edu 37 19 17263479 17263479 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 17263479 17263479 G C SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 101 36 26.28 101 0 0.00 MYO9B 4650 genome.wustl.edu 37 19 17305930 17305930 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 17305930 17305930 G C SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.3694 p.E1232Q 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 34 13 27.66 55 0 0.00 MYO9B 4650 genome.wustl.edu 37 19 17312782 17312782 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 17312782 17312782 C G SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.4611 p.I1537M 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 38 6 13.64 35 0 0.00 MYO9B 4650 genome.wustl.edu 37 19 17320447 17320447 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 17320447 17320447 G A SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.5677 p.E1893K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 69 20 22.47 88 0 0.00 MYO9B 4650 genome.wustl.edu 37 19 17323012 17323012 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 17323012 17323012 G A SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.6367 p.A2123T 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 34 26 43.33 28 0 0.00 MYOC 4653 genome.wustl.edu 37 1 171605066 171605066 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171605066 171605066 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.1514 p.*505 0.674 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 37 28 43.08 57 0 0.00 MYOC 4653 genome.wustl.edu 37 1 171605176 171605176 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 171605176 171605176 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.1404 p.K468 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 171 38 18.18 111 0 0.00 MYOC 4653 genome.wustl.edu 37 1 171605823 171605823 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 171605823 171605823 C G SNP MYOC ENST00000037502 human ensembl 70_37 -1 known missense c.757 p.E253Q 0.998 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 19 10 34.48 37 0 0.00 MYOC 4653 genome.wustl.edu 37 1 171621374 171621374 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 171621374 171621374 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.378 p.R126 0.012 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 39 9 18.75 50 0 0.00 MYOC 4653 genome.wustl.edu 37 1 171621560 171621560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171621560 171621560 C G SNP MYOC ENST00000037502 human ensembl 70_37 -1 known missense c.192 p.Q64H 0.035 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 62 39 38.61 62 0 0.00 MYOCD 93649 genome.wustl.edu 37 17 12656108 12656108 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 12656108 12656108 G A SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known silent c.1503 p.L501 0.711 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 11 9 45.00 28 0 0.00 MYOCD 93649 genome.wustl.edu 37 17 12666647 12666647 + Missense_Mutation SNP T T G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 12666647 12666647 T G SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2647 p.F883V 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 44 5 10.20 63 0 0.00 MYOCD 93649 genome.wustl.edu 37 17 12666834 12666834 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 12666834 12666834 C T SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2834 p.P945L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 12 13 52.00 62 0 0.00 MYOCD 93649 genome.wustl.edu 37 17 12666899 12666899 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 12666899 12666899 T G SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2899 p.F967V 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 45 5 10.00 62 0 0.00 MYOD1 4654 genome.wustl.edu 37 11 17741623 17741623 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17741623 17741623 C T SNP MYOD1 ENST00000250003 human ensembl 70_37 +1 known silent c.294 p.C98 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOD1 HGNC ENSG00000129152 6 6 50.00 16 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95082920 95082920 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 95082920 95082920 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.5371 p.R1791C 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 54 31 36.47 121 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95088619 95088619 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 95088619 95088619 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known nonsense c.5032 p.Q1678* 0.998 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 306 46 13.03 446 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95111499 95111499 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 95111499 95111499 C G SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.3586 p.E1196Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 45 26 36.62 76 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95113616 95113616 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 95113616 95113616 C T SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.3433 p.V1145I 0.869 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 127 26 16.88 199 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95121295 95121295 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 95121295 95121295 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.2888 p.S963L 0.930 smart_Peroxin/Ferlin pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 31 24 43.64 40 0 0.00 MYOF 26509 genome.wustl.edu 37 10 95237970 95237970 + RNA SNP T T G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 95237970 95237970 T G SNP MYOF ENST00000488645 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYOF HGNC ENSG00000138119 47 20 29.85 67 0 0.00 MYOG 4656 genome.wustl.edu 37 1 203054799 203054799 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203054799 203054799 C T SNP MYOG ENST00000241651 human ensembl 70_37 -1 known silent c.291 p.V97 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOG HGNC ENSG00000122180 58 51 46.79 83 0 0.00 MYOG 4656 genome.wustl.edu 37 1 203055086 203055086 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203055086 203055086 C G SNP MYOG ENST00000241651 human ensembl 70_37 -1 known missense c.4 p.E2Q 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOG HGNC ENSG00000122180 11 9 45.00 17 0 0.00 MYOM1 8736 genome.wustl.edu 37 18 3126818 3126818 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 3126818 3126818 C G SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known missense c.2872 p.D958H 0.961 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 71 19 21.11 75 0 0.00 MYOM1 8736 genome.wustl.edu 37 18 3151753 3151753 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 18 3151753 3151753 G A SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known silent c.1782 p.F594 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 37 14 27.45 38 0 0.00 MYOM1 8736 genome.wustl.edu 37 18 3215001 3215001 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 3215001 3215001 G A SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known missense c.221 p.S74L 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 50 25 33.33 74 0 0.00 MYOM2 9172 genome.wustl.edu 37 8 2037985 2037985 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 8 2037985 2037985 C T SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.1799 p.T600M 0.963 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 15 9 37.50 50 0 0.00 MYOM2 9172 genome.wustl.edu 37 8 2044137 2044137 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 2044137 2044137 T C SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2176 p.S726P 0.980 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 27 11 28.95 64 0 0.00 MYOM2 9172 genome.wustl.edu 37 8 2054351 2054351 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 2054351 2054351 G A SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2962 p.D988N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 20 5 20.00 36 0 0.00 MYOM2 9172 genome.wustl.edu 37 8 2054351 2054351 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 2054351 2054351 G A SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2962 p.D988N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 29 4 12.12 59 0 0.00 MYOM3 127294 genome.wustl.edu 37 1 24384003 24384003 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 24384003 24384003 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.4174 p.E1392K 0.336 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 35 37 51.39 76 0 0.00 MYOM3 127294 genome.wustl.edu 37 1 24413279 24413279 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 24413279 24413279 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known silent c.1656 p.S552 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 110 33 22.92 133 0 0.00 MYOM3 127294 genome.wustl.edu 37 1 24419481 24419481 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 24419481 24419481 G A SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.1049 p.S350L 0.084 pfam_Ig_I-set,smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 27 13 32.50 34 0 0.00 MYOM3 127294 genome.wustl.edu 37 1 24434550 24434550 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 24434550 24434550 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.178 p.E60K 0.126 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 33 32 49.23 23 0 0.00 MYOM3 127294 genome.wustl.edu 37 1 24434550 24434550 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 24434550 24434550 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.178 p.E60K 0.126 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 48 36 42.86 47 0 0.00 MYOT 9499 genome.wustl.edu 37 5 137211606 137211606 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 137211606 137211606 G A SNP MYOT ENST00000239926 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYOT HGNC ENSG00000120729 16 17 51.52 29 0 0.00 MYOT 9499 genome.wustl.edu 37 5 137219244 137219244 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 137219244 137219244 G A SNP MYOT ENST00000239926 human ensembl 70_37 +1 known missense c.988 p.G330R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYOT HGNC ENSG00000120729 88 18 16.98 95 0 0.00 MYOZ1 58529 genome.wustl.edu 37 10 75399732 75399732 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 75399732 75399732 G A SNP MYOZ1 ENST00000359322 human ensembl 70_37 -1 known missense c.44 p.S15F 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 50 12 19.05 58 0 0.00 MYPN 84665 genome.wustl.edu 37 10 69902782 69902782 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 69902782 69902782 G A SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.988 p.E330K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 33 10 23.26 43 0 0.00 MYPN 84665 genome.wustl.edu 37 10 69957140 69957140 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 69957140 69957140 G C SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.3190 p.E1064Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 22 17 43.59 40 0 0.00 MYPN 84665 genome.wustl.edu 37 10 69970178 69970178 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 69970178 69970178 C G SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.3929 p.S1310C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 42 29 40.85 83 0 0.00 MYPOP 339344 genome.wustl.edu 37 19 46404855 46404855 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 46404855 46404855 G T SNP MYPOP ENST00000322217 human ensembl 70_37 -1 known silent c.177 p.I59 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 21 45 68.18 90 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40085724 40085724 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 40085724 40085724 C T SNP MYRIP ENST00000396217 human ensembl 70_37 +1 known missense c.164 p.T55M 0.013 NULL pfam_Myrip/Melanophilin - no_errors MYRIP HGNC ENSG00000170011 35 9 20.45 59 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40192620 40192620 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 40192620 40192620 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 22 4 15.38 34 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40192620 40192620 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 40192620 40192620 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 59 7 10.61 30 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40223858 40223858 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 40223858 40223858 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known missense c.1021 p.E341K 0.064 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 21 12 36.36 70 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40275497 40275497 + Missense_Mutation SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 40275497 40275497 A G SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known missense c.2053 p.T685A 0.995 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 29 4 12.12 38 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40286041 40286041 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 40286041 40286041 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.2205 p.A735 0.587 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 10 8 44.44 17 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40299697 40299697 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 40299697 40299697 C T SNP MYRIP ENST00000459828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYRIP HGNC ENSG00000170011 13 6 30.00 31 0 0.00 MYRIP 25924 genome.wustl.edu 37 3 40299719 40299719 + RNA SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 3 40299719 40299719 C A SNP MYRIP ENST00000459828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYRIP HGNC ENSG00000170011 47 8 14.55 30 0 0.00 MYSM1 114803 genome.wustl.edu 37 1 59147737 59147737 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 59147737 59147737 C G SNP MYSM1 ENST00000472487 human ensembl 70_37 -1 known missense c.979 p.D327H 0.000 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 214 51 19.17 285 0 0.00 MYSM1 114803 genome.wustl.edu 37 1 59158365 59158365 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 59158365 59158365 G A SNP MYSM1 ENST00000489282 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYSM1 HGNC ENSG00000162601 9 7 43.75 9 0 0.00 MYSM1 114803 genome.wustl.edu 37 1 59165694 59165694 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 59165694 59165694 C T SNP MYSM1 ENST00000472487 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 88 23 20.72 129 0 0.00 MYT1 4661 genome.wustl.edu 37 20 62839109 62839109 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62839109 62839109 C T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.560 p.A187V 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 24 10 28.57 47 0 0.00 MYT1 4661 genome.wustl.edu 37 20 62848481 62848481 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 62848481 62848481 G T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.1693 p.A565S 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 33 19 30.65 40 0 0.00 MYT1 4661 genome.wustl.edu 37 20 62853251 62853251 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 62853251 62853251 G C SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.2328 p.E776D 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 53 8 13.11 41 0 0.00 MYT1 4661 genome.wustl.edu 37 20 62854649 62854649 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 62854649 62854649 C T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.2546 p.S849F 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 48 85 63.91 219 0 0.00 MYT1 4661 genome.wustl.edu 37 20 62867944 62867944 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 62867944 62867944 G A SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known silent c.3015 p.K1005 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 39 11 22.00 72 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1805482 1805482 + Nonsense_Mutation SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 1805482 1805482 T A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known nonsense c.3262 p.K1088* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 126 57 30.98 164 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1805482 1805482 + Nonsense_Mutation SNP T T A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 1805482 1805482 T A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known nonsense c.3262 p.K1088* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 42 20 32.26 32 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1820041 1820041 + RNA SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 2 1820041 1820041 C T SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MYT1L HGNC ENSG00000186487 37 35 48.61 61 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1820058 1820058 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 1820058 1820058 G A SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors MYT1L HGNC ENSG00000186487 32 33 50.77 54 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1820143 1820143 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 1820143 1820143 C T SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors MYT1L HGNC ENSG00000186487 137 61 30.65 148 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1820470 1820470 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 1820470 1820470 C T SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYT1L HGNC ENSG00000186487 38 24 38.71 86 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1820502 1820502 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 1820502 1820502 C G SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MYT1L HGNC ENSG00000186487 31 11 26.19 56 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1844769 1844769 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1844769 1844769 G A SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors MYT1L HGNC ENSG00000186487 7 4 36.36 12 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1895843 1895843 + Missense_Mutation SNP A A G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 1895843 1895843 A G SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.2249 p.L750P 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 34 8 19.05 35 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1915828 1915828 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 1915828 1915828 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1673 p.R558H 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 46 23 33.33 72 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1920995 1920995 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 1920995 1920995 C A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1600 p.D534Y 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 71 37 34.26 122 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1921047 1921047 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 1921047 1921047 G A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known silent c.1548 p.H516 0.996 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 56 16 22.22 74 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1926313 1926313 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 1926313 1926313 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1228 p.D410N 0.997 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 63 32 33.68 110 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 1926366 1926366 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 1926366 1926366 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1175 p.R392Q 0.894 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 44 15 25.42 78 0 0.00 MYT1L 23040 genome.wustl.edu 37 2 2057784 2057784 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 2057784 2057784 G A SNP MYT1L ENST00000479156 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYT1L HGNC ENSG00000186487 36 12 25.00 35 0 0.00 MZB1 51237 genome.wustl.edu 37 5 138723467 138723467 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138723467 138723467 C G SNP MZB1 ENST00000412103 human ensembl 70_37 -1 known missense c.281 p.R94T 0.019 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 25 6 19.35 31 0 0.00 MZB1 51237 genome.wustl.edu 37 5 138723536 138723536 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138723536 138723536 C A SNP MZB1 ENST00000412103 human ensembl 70_37 -1 known missense c.212 p.R71L 0.000 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 33 14 29.79 56 0 0.00 MZF1 7593 genome.wustl.edu 37 19 59074078 59074078 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 59074078 59074078 G T SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.1566 p.F522L 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 8 8 50.00 8 0 0.00 MZF1 7593 genome.wustl.edu 37 19 59074503 59074503 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 59074503 59074503 C T SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.1141 p.E381K 0.984 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 13 4 23.53 17 0 0.00 MZF1 7593 genome.wustl.edu 37 19 59081860 59081860 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 59081860 59081860 G A SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.431 p.S144L 0.949 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 52 9 14.75 65 0 0.00 MZF1 7593 genome.wustl.edu 37 19 59082462 59082462 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 59082462 59082462 C G SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.295 p.E99Q 0.613 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 37 16 30.19 47 0 0.00 MZF1 7593 genome.wustl.edu 37 19 59082675 59082675 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 59082675 59082675 C G SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.929 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 26 20 43.48 70 0 0.00 MZT2B 80097 genome.wustl.edu 37 2 130939993 130939993 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 130939993 130939993 G A SNP MZT2B ENST00000281871 human ensembl 70_37 +1 known silent c.138 p.A46 0.931 NULL NULL - no_errors MZT2B HGNC ENSG00000152082 18 9 33.33 16 0 0.00 N4BP1 9683 genome.wustl.edu 37 16 48595284 48595284 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 48595284 48595284 C T SNP N4BP1 ENST00000262384 human ensembl 70_37 -1 known missense c.1270 p.D424N 0.001 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 37 15 28.85 62 0 0.00 N4BP2 55728 genome.wustl.edu 37 4 40103779 40103779 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 40103779 40103779 C G SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.314 p.S105C 0.845 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 5 6 54.55 21 0 0.00 N4BP2 55728 genome.wustl.edu 37 4 40103848 40103848 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 40103848 40103848 C T SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.383 p.S128L 0.027 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 12 8 40.00 32 0 0.00 N4BP2 55728 genome.wustl.edu 37 4 40122816 40122816 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 40122816 40122816 G C SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.3085 p.E1029Q 1.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 11 6 35.29 15 0 0.00 N4BP2L1 90634 genome.wustl.edu 37 13 32981467 32981467 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981467 32981467 C T SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.316 p.A106T 1.000 pfam_Zeta_toxin_domain pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC ENSG00000139597 34 19 35.85 55 0 0.00 N4BP2L1 90634 genome.wustl.edu 37 13 32981472 32981472 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981472 32981472 C G SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.311 p.R104T 1.000 pfam_Zeta_toxin_domain pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC ENSG00000139597 34 19 35.85 47 0 0.00 N4BP2L1 90634 genome.wustl.edu 37 13 32981746 32981746 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 32981746 32981746 C T SNP N4BP2L1 ENST00000472298 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors N4BP2L1 HGNC ENSG00000139597 30 18 36.73 52 0 0.00 N4BP2L1 90634 genome.wustl.edu 37 13 33002135 33002135 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 33002135 33002135 G T SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.85 p.P29T 1.000 NULL pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC ENSG00000139597 24 9 27.27 42 0 0.00 N4BP2L2 10443 genome.wustl.edu 37 13 33054766 33054766 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 33054766 33054766 C T SNP N4BP2L2 ENST00000473025 human ensembl 70_37 -1 known rna NULL NULL 0.200 - - - no_errors N4BP2L2 HGNC ENSG00000244754 31 8 20.51 43 0 0.00 N4BP2L2 10443 genome.wustl.edu 37 13 33110303 33110303 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 33110303 33110303 G C SNP N4BP2L2 ENST00000267068 human ensembl 70_37 -1 known missense c.862 p.H288D 0.997 NULL pfam_Zeta_toxin_domain - no_errors N4BP2L2 HGNC ENSG00000244754 27 16 37.21 49 0 0.00 N4BP3 23138 genome.wustl.edu 37 5 177547344 177547344 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177547344 177547344 C G SNP N4BP3 ENST00000274605 human ensembl 70_37 +1 known missense c.496 p.Q166E 1.000 NULL pfam_Fez1 - no_errors N4BP3 HGNC ENSG00000145911 24 18 42.86 48 0 0.00 N4BP3 23138 genome.wustl.edu 37 5 177547344 177547344 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 177547344 177547344 C G SNP N4BP3 ENST00000274605 human ensembl 70_37 +1 known missense c.496 p.Q166E 1.000 NULL pfam_Fez1 - no_errors N4BP3 HGNC ENSG00000145911 29 12 29.27 23 0 0.00 N6AMT1 29104 genome.wustl.edu 37 21 30255320 30255320 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 30255320 30255320 G A SNP N6AMT1 ENST00000303775 human ensembl 70_37 -1 known nonsense c.208 p.Q70* 0.772 pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch - no_errors N6AMT1 HGNC ENSG00000156239 28 14 33.33 55 0 0.00 NAA11 84779 genome.wustl.edu 37 4 80247017 80247017 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 80247017 80247017 G A SNP NAA11 ENST00000286794 human ensembl 70_37 -1 known silent c.15 p.N5 0.917 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 35 25 41.67 53 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140258071 140258071 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 140258071 140258071 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.209 p.R70H 1.000 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 137 43 23.89 144 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140264026 140264026 + Nonsense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 140264026 140264026 C A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known nonsense c.449 p.S150* 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 145 49 25.13 176 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140270690 140270690 + Nonsense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 140270690 140270690 G T SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known nonsense c.766 p.E256* 1.000 smart_TPR_repeat,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 13 9 40.91 29 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140270728 140270728 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 140270728 140270728 C G SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known silent c.804 p.L268 0.059 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 25 19 43.18 34 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140272765 140272765 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140272765 140272765 G C SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1014 p.K338N 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 34 5 12.82 32 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140281017 140281017 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 140281017 140281017 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1378 p.E460K 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 23 7 23.33 45 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140291445 140291445 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 140291445 140291445 A - DEL NAA15 ENST00000296543 human ensembl 70_37 +1 known frame_shift_del c.1834 p.N614fs 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 11 5 31.25 8 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140291474 140291474 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 140291474 140291474 G T SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1863 p.Q621H 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 42 18 30.00 48 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140297522 140297522 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140297522 140297522 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1951 p.E651K 1.000 pfam_NatA_aux_su,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 20 9 31.03 27 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140297537 140297537 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140297537 140297537 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1966 p.E656K 1.000 pfam_NatA_aux_su,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 19 6 24.00 28 0 0.00 NAA15 80155 genome.wustl.edu 37 4 140309101 140309101 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 140309101 140309101 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.2464 p.E822K 1.000 NULL pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 29 14 31.82 32 0 0.00 NAA16 79612 genome.wustl.edu 37 13 41932524 41932524 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 41932524 41932524 C A SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.1172 p.S391Y 0.431 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 38 17 30.91 99 0 0.00 NAA16 79612 genome.wustl.edu 37 13 41936244 41936244 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 41936244 41936244 G T SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.1488 p.Q496H 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 41 5 10.87 122 0 0.00 NAA16 79612 genome.wustl.edu 37 13 41936628 41936628 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 41936628 41936628 G A SNP NAA16 ENST00000497143 human ensembl 70_37 +1 known rna NULL NULL 0.545 - - - no_errors NAA16 HGNC ENSG00000172766 6 10 62.50 19 0 0.00 NAA16 79612 genome.wustl.edu 37 13 41947823 41947823 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 41947823 41947823 G A SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.2206 p.E736K 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 12 7 36.84 34 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112486241 112486241 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112486241 112486241 C G SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.1735 p.E579Q 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 26 12 31.58 20 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112491435 112491435 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 112491435 112491435 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.1655 p.S552F 0.985 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 5 10 66.67 13 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112492280 112492280 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112492280 112492280 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known nonsense c.1540 p.R514* 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 9 12 57.14 47 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112499082 112499082 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112499082 112499082 C G SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known silent c.1260 p.L420 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 36 22 37.93 38 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112513503 112513503 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 112513503 112513503 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.755 p.S252F 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 45 13 22.41 44 0 0.00 NAA25 80018 genome.wustl.edu 37 12 112530885 112530885 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 112530885 112530885 C T SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 8 11 57.89 17 0 0.00 NAA30 122830 genome.wustl.edu 37 14 57876233 57876233 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 57876233 57876233 G A SNP NAA30 ENST00000556492 human ensembl 70_37 +1 known silent c.1088 p.*363 1.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 52 25 32.47 76 0 0.00 NAA35 60560 genome.wustl.edu 37 9 88633650 88633650 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 88633650 88633650 C G SNP NAA35 ENST00000361671 human ensembl 70_37 +1 known missense c.1951 p.Q651E 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 39 20 33.90 56 0 0.00 NAA40 79829 genome.wustl.edu 37 11 63706541 63706541 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 63706541 63706541 G A SNP NAA40 ENST00000536939 human ensembl 70_37 +1 known rna NULL NULL 0.760 - - - no_errors NAA40 HGNC ENSG00000110583 43 14 24.56 64 0 0.00 NAA40 79829 genome.wustl.edu 37 11 63721865 63721865 + Missense_Mutation SNP T T C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 63721865 63721865 T C SNP NAA40 ENST00000377793 human ensembl 70_37 +1 known missense c.628 p.S210P 1.000 pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA40 HGNC ENSG00000110583 33 28 45.90 84 0 0.00 NAA50 80218 genome.wustl.edu 37 3 113440729 113440729 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 113440729 113440729 C G SNP NAA50 ENST00000240922 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA50 HGNC ENSG00000121579 60 44 42.31 43 0 0.00 NAA60 79903 genome.wustl.edu 37 16 3526230 3526230 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 3526230 3526230 G A SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 65 35 35.00 54 0 0.00 NAA60 79903 genome.wustl.edu 37 16 3533366 3533366 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 3533366 3533366 C T SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.341 p.S114F 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 61 41 40.20 92 0 0.00 NAA60 79903 genome.wustl.edu 37 16 3533506 3533506 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 3533506 3533506 C G SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.481 p.L161V 0.999 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 44 19 30.16 61 0 0.00 NAA60 79903 genome.wustl.edu 37 16 3533522 3533522 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 3533522 3533522 C G SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.497 p.S166C 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 37 12 24.49 48 0 0.00 NAAA 27163 genome.wustl.edu 37 4 76842147 76842147 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76842147 76842147 C G SNP NAAA ENST00000286733 human ensembl 70_37 -1 known missense c.796 p.D266H 0.050 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors NAAA HGNC ENSG00000138744 29 11 27.50 30 0 0.00 NAALAD2 10003 genome.wustl.edu 37 11 89883683 89883683 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 89883683 89883683 G A SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 43 7 14.00 33 0 0.00 NAALAD2 10003 genome.wustl.edu 37 11 89883714 89883714 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 89883714 89883714 G C SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known missense c.548 p.G183A 0.936 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 38 5 11.63 31 0 0.00 NAALAD2 10003 genome.wustl.edu 37 11 89891408 89891408 + Splice_Site SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 89891408 89891408 T C SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known splice_site c.890+2 e7+2 1.000 - - - no_errors NAALAD2 HGNC ENSG00000077616 53 11 17.19 98 0 0.00 NAALAD2 10003 genome.wustl.edu 37 11 89892437 89892437 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 89892437 89892437 G A SNP NAALAD2 ENST00000527493 human ensembl 70_37 +1 known missense c.827 p.R276K 0.001 NULL pfam_Protease-assoc_domain - no_errors NAALAD2 HGNC ENSG00000077616 38 9 19.15 37 0 0.00 NAALADL1 10004 genome.wustl.edu 37 11 64812806 64812806 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64812806 64812806 G C SNP NAALADL1 ENST00000358658 human ensembl 70_37 -1 known silent c.2160 p.L720 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 18 4 18.18 27 0 0.00 NAALADL2 254827 genome.wustl.edu 37 3 174577206 174577206 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 174577206 174577206 G T SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.9 p.E3D 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 6 3 33.33 34 0 0.00 NAALADL2 254827 genome.wustl.edu 37 3 174814830 174814830 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 174814830 174814830 G C SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.294 p.Q98H 0.998 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 70 23 24.73 66 0 0.00 NAALADL2 254827 genome.wustl.edu 37 3 175042010 175042010 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 175042010 175042010 T C SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.986 p.I329T 0.989 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 56 13 18.84 48 0 0.00 NAB1 4664 genome.wustl.edu 37 2 191535149 191535149 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 2 191535149 191535149 G A SNP NAB1 ENST00000337386 human ensembl 70_37 +1 known missense c.917 p.R306Q 1.000 pfam_NAB_co-repressor_dom pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 27 4 12.90 46 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57483008 57483008 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 57483008 57483008 G C SNP NAB2 ENST00000554718 human ensembl 70_37 +1 putative rna NULL NULL 0.309 - - - no_errors NAB2 HGNC ENSG00000166886 8 3 27.27 34 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57483098 57483098 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 57483098 57483098 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.44 p.G15E 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 29 22 43.14 64 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57485047 57485047 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 57485047 57485047 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.223 p.A75T 1.000 pfam_Nab_N,superfamily_SAM/pointed pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 27 11 28.95 43 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57485124 57485124 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57485124 57485124 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known silent c.300 p.Q100 1.000 pfam_Nab_N,superfamily_SAM/pointed pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 21 10 32.26 13 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57485779 57485779 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 57485779 57485779 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.955 p.E319K 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 55 8 12.50 62 0 0.00 NAB2 4665 genome.wustl.edu 37 12 57488487 57488487 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 57488487 57488487 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.1561 p.E521K 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 58 18 23.68 52 0 0.00 NABP2 79035 genome.wustl.edu 37 12 56618691 56618691 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 56618691 56618691 G A SNP NABP2 ENST00000267023 human ensembl 70_37 +1 known silent c.51 p.L17 1.000 superfamily_NA-bd_OB-fold-like pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors NABP2 HGNC ENSG00000139579 84 22 20.75 80 0 0.00 NACA 4666 genome.wustl.edu 37 12 57107411 57107411 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57107411 57107411 C T SNP NACA ENST00000547914 human ensembl 70_37 -1 known missense c.146 p.G49E 1.000 NULL NULL - no_errors NACA HGNC ENSG00000196531 219 63 22.34 300 1 0.33 NACA 4666 genome.wustl.edu 37 12 57110236 57110236 + Missense_Mutation SNP G G C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 57110236 57110236 G C SNP NACA ENST00000454682 human ensembl 70_37 -1 known missense c.5078 p.T1693R 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 30 17 36.17 71 0 0.00 NACA 4666 genome.wustl.edu 37 12 57114446 57114446 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57114446 57114446 G C SNP NACA ENST00000454682 human ensembl 70_37 -1 known missense c.868 p.Q290E 0.109 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 36 13 26.53 33 0 0.00 NACA2 342538 genome.wustl.edu 37 17 59668212 59668212 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59668212 59668212 G A SNP NACA2 ENST00000521764 human ensembl 70_37 -1 known silent c.330 p.D110 1.000 pfam_Nas_poly-pep-assoc_cplx,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA2 HGNC ENSG00000253506 38 19 32.76 109 0 0.00 NACAD 23148 genome.wustl.edu 37 7 45123257 45123257 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 7 45123257 45123257 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.2522 p.A841V 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 8 10 55.56 9 0 0.00 NACAD 23148 genome.wustl.edu 37 7 45124277 45124277 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 45124277 45124277 C G SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.1502 p.R501T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 157 77 32.91 128 0 0.00 NACAD 23148 genome.wustl.edu 37 7 45124667 45124667 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 45124667 45124667 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.1112 p.T371M 0.980 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 10 3 23.08 25 0 0.00 NACAD 23148 genome.wustl.edu 37 7 45125156 45125156 + Missense_Mutation SNP A A G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 7 45125156 45125156 A G SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.623 p.L208P 0.992 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 53 15 22.06 52 0 0.00 NACAD 23148 genome.wustl.edu 37 7 45125617 45125617 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 45125617 45125617 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known silent c.162 p.L54 0.001 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 11 5 31.25 8 0 0.00 NACAP1 83955 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 70_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 16 5 23.81 18 0 0.00 NACC1 112939 genome.wustl.edu 37 19 13246773 13246773 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 13246773 13246773 G A SNP NACC1 ENST00000292431 human ensembl 70_37 +1 known missense c.752 p.G251D 0.010 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 5 3 37.50 15 0 0.00 NACC1 112939 genome.wustl.edu 37 19 13248327 13248327 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 13248327 13248327 G A SNP NACC1 ENST00000292431 human ensembl 70_37 +1 known missense c.1262 p.R421H 1.000 pfam_BEN_domain pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 69 9 11.11 88 0 0.00 NACC2 138151 genome.wustl.edu 37 9 138903634 138903634 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 138903634 138903634 C T SNP NACC2 ENST00000277554 human ensembl 70_37 -1 known missense c.1492 p.E498K 0.992 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC2 HGNC ENSG00000148411 13 6 31.58 17 0 0.00 NADK 65220 genome.wustl.edu 37 1 1688672 1688672 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1688672 1688672 C G SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.653 p.R218T 0.906 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 38 7 15.56 32 0 0.00 NADK 65220 genome.wustl.edu 37 1 1691201 1691201 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1691201 1691201 C T SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.404 p.R135Q 0.000 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 73 31 29.81 71 0 0.00 NADK 65220 genome.wustl.edu 37 1 1693443 1693443 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1693443 1693443 C T SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.211 p.V71M 1.000 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 55 15 21.43 103 0 0.00 NADSYN1 55191 genome.wustl.edu 37 11 71174494 71174494 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71174494 71174494 A T SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.280 p.N94Y 0.951 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 33 9 21.43 70 0 0.00 NADSYN1 55191 genome.wustl.edu 37 11 71184348 71184348 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 71184348 71184348 G T SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.484 p.V162L 0.999 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 31 4 11.43 57 0 0.00 NADSYN1 55191 genome.wustl.edu 37 11 71185636 71185636 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 71185636 71185636 C G SNP NADSYN1 ENST00000528509 human ensembl 70_37 +1 known missense c.862 p.L288V 0.001 pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NADSYN1 HGNC ENSG00000172890 35 27 43.55 34 0 0.00 NADSYN1 55191 genome.wustl.edu 37 11 71195371 71195371 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 71195371 71195371 C G SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.1333 p.L445V 0.716 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 34 21 38.18 63 0 0.00 NADSYN1 55191 genome.wustl.edu 37 11 71212397 71212397 + Nonstop_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 71212397 71212397 G C SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known nonstop c.2120 p.*707S 0.702 NULL pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 13 11 45.83 25 0 0.00 NAF1 92345 genome.wustl.edu 37 4 164048226 164048226 + Missense_Mutation SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 164048226 164048226 G T SNP NAF1 ENST00000422287 human ensembl 70_37 -1 known missense c.1075 p.P359T 0.001 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC ENSG00000145414 33 5 13.16 27 0 0.00 NAF1 92345 genome.wustl.edu 37 4 164069547 164069547 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 164069547 164069547 C T SNP NAF1 ENST00000274054 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_H/ACA_rnp_Gar1/Naf1 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC ENSG00000145414 61 13 17.57 43 0 0.00 NAF1 92345 genome.wustl.edu 37 4 164085493 164085493 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 164085493 164085493 G A SNP NAF1 ENST00000274054 human ensembl 70_37 -1 known missense c.416 p.S139L 0.996 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC ENSG00000145414 34 8 19.05 26 0 0.00 NAGLU 4669 genome.wustl.edu 37 17 40690485 40690485 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 40690485 40690485 C G SNP NAGLU ENST00000225927 human ensembl 70_37 +1 known missense c.660 p.I220M 1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 11 4 26.67 16 0 0.00 NAGS 162417 genome.wustl.edu 37 17 42082117 42082117 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42082117 42082117 G A SNP NAGS ENST00000293404 human ensembl 70_37 +1 known missense c.86 p.R29Q 0.593 pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 38 10 20.83 17 0 0.00 NAGS 162417 genome.wustl.edu 37 17 42084059 42084059 + Nonsense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 42084059 42084059 G T SNP NAGS ENST00000293404 human ensembl 70_37 +1 known nonsense c.1078 p.E360* 0.973 pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 33 13 28.26 30 0 0.00 NAIF1 203245 genome.wustl.edu 37 9 130825812 130825812 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130825812 130825812 G A SNP NAIF1 ENST00000373078 human ensembl 70_37 -1 known silent c.879 p.I293 0.458 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 25 11 30.56 44 0 0.00 NAIF1 203245 genome.wustl.edu 37 9 130829080 130829080 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130829080 130829080 C A SNP NAIF1 ENST00000373078 human ensembl 70_37 -1 known nonsense c.301 p.E101* 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 25 17 40.48 44 0 0.00 NAIF1 203245 genome.wustl.edu 37 9 130829407 130829407 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 130829407 130829407 G C SNP NAIF1 ENST00000496649 human ensembl 70_37 -1 known rna NULL NULL 0.616 - - - no_errors NAIF1 HGNC ENSG00000171169 24 18 42.86 21 0 0.00 NAIP 4671 genome.wustl.edu 37 5 70307110 70307110 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 70307110 70307110 C G SNP NAIP ENST00000194097 human ensembl 70_37 -1 known missense c.660 p.W220C 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 11 22 66.67 62 0 0.00 NAIP 4671 genome.wustl.edu 37 5 70308577 70308577 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 70308577 70308577 G A SNP NAIP ENST00000194097 human ensembl 70_37 -1 known nonsense c.166 p.Q56* 0.002 NULL pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 50 14 21.88 50 0 0.00 NALCN 259232 genome.wustl.edu 37 13 101728269 101728269 + Silent SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 13 101728269 101728269 G A SNP NALCN ENST00000251127 human ensembl 70_37 -1 known silent c.3909 p.G1303 0.332 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 134 61 31.12 196 1 0.51 NALCN 259232 genome.wustl.edu 37 13 101735534 101735534 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 101735534 101735534 C T SNP NALCN ENST00000251127 human ensembl 70_37 -1 known missense c.3599 p.R1200K 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 9 4 28.57 41 0 0.00 NALCN 259232 genome.wustl.edu 37 13 101769334 101769334 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 101769334 101769334 G A SNP NALCN ENST00000467264 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors NALCN HGNC ENSG00000102452 103 21 16.94 82 0 0.00 NALCN 259232 genome.wustl.edu 37 13 101777027 101777027 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 13 101777027 101777027 G A SNP NALCN ENST00000251127 human ensembl 70_37 -1 known silent c.2124 p.R708 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 79 17 17.71 98 0 0.00 NALCN 259232 genome.wustl.edu 37 13 102029363 102029363 + Silent SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 102029363 102029363 G T SNP NALCN ENST00000251127 human ensembl 70_37 -1 known silent c.420 p.G140 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 48 11 18.64 73 0 0.00 NALCN 259232 genome.wustl.edu 37 13 102047655 102047655 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 102047655 102047655 G A SNP NALCN ENST00000251127 human ensembl 70_37 -1 known missense c.170 p.T57M 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 43 12 21.43 39 0 0.00 NANOG 79923 genome.wustl.edu 37 12 7945646 7945646 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 7945646 7945646 C T SNP NANOG ENST00000229307 human ensembl 70_37 +1 known silent c.252 p.V84 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOG HGNC ENSG00000111704 126 31 19.62 131 0 0.00 NANOG 79923 genome.wustl.edu 37 12 7947426 7947426 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 7947426 7947426 A G SNP NANOG ENST00000229307 human ensembl 70_37 +1 known missense c.653 p.N218S 0.004 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOG HGNC ENSG00000111704 10 7 41.18 23 0 0.00 NANOGP1 404635 genome.wustl.edu 37 12 8050863 8050863 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 8050863 8050863 G A SNP NANOGP1 ENST00000530989 human ensembl 70_37 +1 known silent c.246 p.V82 0.858 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOGP1 HGNC ENSG00000176654 50 29 36.71 57 0 0.00 NANOGP1 404635 genome.wustl.edu 37 12 8050926 8050926 + Silent SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 8050926 8050926 G A SNP NANOGP1 ENST00000530989 human ensembl 70_37 +1 known silent c.309 p.K103 0.002 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOGP1 HGNC ENSG00000176654 157 22 12.29 167 0 0.00 NANOS2 339345 genome.wustl.edu 37 19 46417623 46417623 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 46417623 46417623 G A SNP NANOS2 ENST00000341294 human ensembl 70_37 -1 known missense c.329 p.T110M 1.000 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 72 43 37.39 107 0 0.00 NANP 140838 genome.wustl.edu 37 20 25596592 25596592 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 25596592 25596592 C G SNP NANP ENST00000304788 human ensembl 70_37 -1 known missense c.716 p.S239T 0.040 superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1 - no_errors NANP HGNC ENSG00000170191 30 12 28.57 46 0 0.00 NANP 140838 genome.wustl.edu 37 20 25597140 25597140 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25597140 25597140 G C SNP NANP ENST00000304788 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1 - no_errors NANP HGNC ENSG00000170191 12 12 50.00 11 0 0.00 NAP1L1 4673 genome.wustl.edu 37 12 76462755 76462755 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 76462755 76462755 C G SNP NAP1L1 ENST00000261182 human ensembl 70_37 -1 known missense c.37 p.D13H 1.000 NULL pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 39 17 30.36 48 0 0.00 NAP1L2 4674 genome.wustl.edu 37 X 72432946 72432946 + Nonstop_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 72432946 72432946 C G SNP NAP1L2 ENST00000373517 human ensembl 70_37 -1 known nonstop c.1383 p.*461Y 0.841 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 44 11 20.00 62 0 0.00 NAP1L3 4675 genome.wustl.edu 37 X 92926242 92926242 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 92926242 92926242 C T SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.630 - - - no_errors NAP1L3 HGNC ENSG00000186310 19 7 26.92 17 0 0.00 NAP1L3 4675 genome.wustl.edu 37 X 92927307 92927307 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 92927307 92927307 C T SNP NAP1L3 ENST00000373079 human ensembl 70_37 -1 known missense c.997 p.D333N 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 9 28 75.68 49 0 0.00 NAP1L3 4675 genome.wustl.edu 37 X 92927910 92927910 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 92927910 92927910 G C SNP NAP1L3 ENST00000373079 human ensembl 70_37 -1 known missense c.394 p.L132V 0.999 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 27 19 41.30 83 0 0.00 NAP1L3 4675 genome.wustl.edu 37 X 92928398 92928398 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 92928398 92928398 G A SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NAP1L3 HGNC ENSG00000186310 8 5 38.46 15 0 0.00 NAP1L3 4675 genome.wustl.edu 37 X 92928474 92928474 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 92928474 92928474 G A SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NAP1L3 HGNC ENSG00000186310 46 9 16.36 45 0 0.00 NAPB 63908 genome.wustl.edu 37 20 23375564 23375564 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 23375564 23375564 C G SNP NAPB ENST00000377026 human ensembl 70_37 -1 known missense c.415 p.E139Q 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 69 18 20.69 73 0 0.00 NAPB 63908 genome.wustl.edu 37 20 23401954 23401954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 23401954 23401954 C T SNP NAPB ENST00000377026 human ensembl 70_37 -1 known missense c.86 p.R29Q 1.000 NULL prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 73 13 15.12 56 0 0.00 NAPRT1 93100 genome.wustl.edu 37 8 144657091 144657091 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144657091 144657091 G C SNP NAPRT1 ENST00000276844 human ensembl 70_37 -1 known missense c.1618 p.P540A 0.000 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put - no_errors NAPRT1 HGNC ENSG00000147813 48 19 28.36 47 0 0.00 NAPRT1 93100 genome.wustl.edu 37 8 144657483 144657483 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144657483 144657483 C G SNP NAPRT1 ENST00000276844 human ensembl 70_37 -1 known missense c.1324 p.E442Q 0.994 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put - no_errors NAPRT1 HGNC ENSG00000147813 85 69 44.81 77 0 0.00 NAPSA 9476 genome.wustl.edu 37 19 50865026 50865026 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 50865026 50865026 C T SNP NAPSA ENST00000253719 human ensembl 70_37 -1 known missense c.362 p.R121Q 0.023 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors NAPSA HGNC ENSG00000131400 46 10 17.86 33 0 0.00 NAPSB 256236 genome.wustl.edu 37 19 50837329 50837329 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50837329 50837329 C G SNP NAPSB ENST00000527780 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors NAPSB HGNC ENSG00000131401 14 14 50.00 36 0 0.00 NAPSB 256236 genome.wustl.edu 37 19 50837639 50837639 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 50837639 50837639 G A SNP NAPSB ENST00000527780 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors NAPSB HGNC ENSG00000131401 42 14 25.00 80 0 0.00 NARF 26502 genome.wustl.edu 37 17 80445795 80445795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 80445795 80445795 G A SNP NARF ENST00000309794 human ensembl 70_37 +1 known missense c.1133 p.C378Y 0.996 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 30 4 11.76 28 0 0.00 NARFL 64428 genome.wustl.edu 37 16 780302 780302 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 780302 780302 C G SNP NARFL ENST00000562862 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 48 16 25.00 47 0 0.00 NARFL 64428 genome.wustl.edu 37 16 780560 780560 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 780560 780560 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.1288 p.E430K 0.000 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 18 15 45.45 25 0 0.00 NARFL 64428 genome.wustl.edu 37 16 780648 780648 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 780648 780648 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known silent c.1200 p.L400 0.886 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 31 11 26.19 17 0 0.00 NARFL 64428 genome.wustl.edu 37 16 787284 787284 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 787284 787284 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.208 p.D70N 1.000 superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 37 25 40.32 58 0 0.00 NARFL 64428 genome.wustl.edu 37 16 789659 789659 + Missense_Mutation SNP T T A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 789659 789659 T A SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.146 p.Y49F 1.000 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 34 16 32.00 51 0 0.00 NARG2 79664 genome.wustl.edu 37 15 60741397 60741397 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 60741397 60741397 C T SNP NARG2 ENST00000261520 human ensembl 70_37 -1 known missense c.1769 p.G590E 0.001 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 56 41 42.27 64 0 0.00 NARG2 79664 genome.wustl.edu 37 15 60760317 60760317 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 60760317 60760317 C G SNP NARG2 ENST00000261520 human ensembl 70_37 -1 known missense c.351 p.K117N 0.464 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 39 5 11.36 52 0 0.00 NARS 4677 genome.wustl.edu 37 18 55273952 55273952 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 55273952 55273952 G A SNP NARS ENST00000256854 human ensembl 70_37 -1 known silent c.1033 p.L345 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS HGNC ENSG00000134440 43 36 45.57 77 0 0.00 NARS2 79731 genome.wustl.edu 37 11 78177032 78177032 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 78177032 78177032 C G SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS2 HGNC ENSG00000137513 33 9 21.43 30 0 0.00 NARS2 79731 genome.wustl.edu 37 11 78270635 78270635 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 78270635 78270635 T C SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known missense c.544 p.I182V 0.794 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS2 HGNC ENSG00000137513 17 10 37.04 45 0 0.00 NARS2 79731 genome.wustl.edu 37 11 78277287 78277287 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 78277287 78277287 G T SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known missense c.404 p.P135H 1.000 tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS2 HGNC ENSG00000137513 23 3 11.54 47 0 0.00 NASP 4678 genome.wustl.edu 37 1 46073046 46073046 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 46073046 46073046 G C SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.469 p.E157Q 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 85 27 24.11 89 0 0.00 NASP 4678 genome.wustl.edu 37 1 46073526 46073526 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 46073526 46073526 G C SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.949 p.E317Q 0.662 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 46 20 30.30 77 0 0.00 NASP 4678 genome.wustl.edu 37 1 46073553 46073553 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 46073553 46073553 G A SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.976 p.E326K 0.022 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 34 18 34.62 35 0 0.00 NASP 4678 genome.wustl.edu 37 1 46079769 46079769 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 46079769 46079769 C G SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.1514 p.S505C 0.995 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 26 41 61.19 48 0 0.00 NAT1 9 genome.wustl.edu 37 8 18080384 18080384 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 18080384 18080384 G C SNP NAT1 ENST00000545197 human ensembl 70_37 +1 known missense c.1014 p.Q338H 0.003 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT1 HGNC ENSG00000171428 40 25 38.46 57 0 0.00 NAT10 55226 genome.wustl.edu 37 11 34155888 34155888 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 34155888 34155888 C T SNP NAT10 ENST00000257829 human ensembl 70_37 +1 known missense c.1757 p.S586F 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 72 49 40.50 121 0 0.00 NAT10 55226 genome.wustl.edu 37 11 34156767 34156767 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 34156767 34156767 G A SNP NAT10 ENST00000257829 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.997 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 13 9 40.91 44 0 0.00 NAT14 57106 genome.wustl.edu 37 19 55997216 55997216 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 55997216 55997216 C T SNP NAT14 ENST00000591590 human ensembl 70_37 +1 putative silent c.141 p.H47 0.007 NULL NULL - no_errors NAT14 HGNC ENSG00000090971 26 14 35.00 40 0 0.00 NAT16 375607 genome.wustl.edu 37 7 100816784 100816784 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100816784 100816784 C G SNP NAT16 ENST00000300303 human ensembl 70_37 -1 known silent c.330 p.V110 0.224 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 23 13 36.11 23 0 0.00 NAT16 375607 genome.wustl.edu 37 7 100816802 100816802 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100816802 100816802 C A SNP NAT16 ENST00000300303 human ensembl 70_37 -1 known splice_site c.313-1 e2-1 1.000 - - - no_errors NAT16 HGNC ENSG00000167011 5 3 37.50 25 0 0.00 NAT2 10 genome.wustl.edu 37 8 18258175 18258175 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 18258175 18258175 C T SNP NAT2 ENST00000286479 human ensembl 70_37 +1 known missense c.662 p.S221L 0.495 pfam_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 3 16 84.21 38 0 0.00 NAT6 24142 genome.wustl.edu 37 3 50334747 50334747 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 50334747 50334747 C T SNP NAT6 ENST00000354862 human ensembl 70_37 -1 known missense c.214 p.E72K 0.946 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC ENSG00000243477 81 25 23.58 68 0 0.00 NAT8 9027 genome.wustl.edu 37 2 73868743 73868743 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73868743 73868743 G C SNP NAT8 ENST00000272425 human ensembl 70_37 -1 known missense c.13 p.H5D 0.538 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 22 19 46.34 38 0 0.00 NAT8 9027 genome.wustl.edu 37 2 73868749 73868749 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 73868749 73868749 G A SNP NAT8 ENST00000272425 human ensembl 70_37 -1 known missense c.7 p.P3S 0.514 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 24 13 35.14 43 0 0.00 NAT9 26151 genome.wustl.edu 37 17 72767864 72767864 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 72767864 72767864 C T SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known silent c.623 p.*208 0.826 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 23 8 25.81 29 0 0.00 NAT9 26151 genome.wustl.edu 37 17 72767952 72767952 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72767952 72767952 C G SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known missense c.535 p.V179L 0.020 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 16 3 15.79 39 0 0.00 NAT9 26151 genome.wustl.edu 37 17 72768120 72768120 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 72768120 72768120 G T SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known missense c.468 p.F156L 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 75 21 21.88 85 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201749586 201749586 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 201749586 201749586 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.1264 p.D422N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 50 16 24.24 55 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201750173 201750173 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201750173 201750173 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 24 17 41.46 33 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201752765 201752765 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201752765 201752765 G C SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.2589 p.M863I 0.995 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 30 23 43.40 51 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201752930 201752930 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201752930 201752930 G C SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.2754 p.E918D 0.039 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 6 6 50.00 12 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201757712 201757712 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 201757712 201757712 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.3112 p.E1038K 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 178 37 17.13 139 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201779862 201779862 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201779862 201779862 C T SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known silent c.4773 p.F1591 1.000 smart_AAA+_ATPase smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 36 15 29.41 36 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201781717 201781717 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 201781717 201781717 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.5149 p.D1717N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 30 28 48.28 46 0 0.00 NAV1 89796 genome.wustl.edu 37 1 201789016 201789016 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201789016 201789016 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.5590 p.D1864N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 38 29 43.28 64 0 0.00 NAV2 89797 genome.wustl.edu 37 11 19970352 19970352 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 19970352 19970352 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.2440 p.R814W 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 18 6 25.00 25 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20005703 20005703 + Missense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 20005703 20005703 C A SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.2747 p.T916N 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 57 15 20.83 94 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20057524 20057524 + Missense_Mutation SNP G G C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 11 20057524 20057524 G C SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.2857 p.V953L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 54 14 20.59 61 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20070498 20070498 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 20070498 20070498 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.4196 p.S1399L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 48 25 34.25 72 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20070575 20070575 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 20070575 20070575 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known nonsense c.4273 p.Q1425* 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 32 9 21.95 56 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20078079 20078079 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 20078079 20078079 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.4904 p.S1635L 0.203 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 31 25 44.64 59 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20101720 20101720 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20101720 20101720 G C SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.5458 p.E1820Q 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 15 4 21.05 16 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20113786 20113786 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 11 20113786 20113786 G T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.5864 p.R1955L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 30 4 11.76 28 0 0.00 NAV2 89797 genome.wustl.edu 37 11 20127225 20127225 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 20127225 20127225 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.6970 p.H2324Y 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 25 15 37.50 47 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78334047 78334047 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 78334047 78334047 G T SNP NAV3 ENST00000549369 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors NAV3 HGNC ENSG00000067798 7 15 68.18 49 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78334875 78334875 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 78334875 78334875 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.376 p.E126K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 12 5 29.41 14 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78401166 78401166 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 78401166 78401166 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.1848 p.L616 0.990 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 20 19 48.72 34 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78415569 78415569 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 78415569 78415569 C A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.1950 p.D650E 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 11 33 75.00 16 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444560 78444560 + Missense_Mutation SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 78444560 78444560 T C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2149 p.F717L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 98 34 25.56 106 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444581 78444581 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 78444581 78444581 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known nonsense c.2170 p.E724* 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 10 7 41.18 19 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444704 78444704 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 78444704 78444704 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2293 p.R765C 0.998 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 26 5 16.13 47 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444742 78444742 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 78444742 78444742 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.2331 p.S777 0.004 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 29 18 38.30 54 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444742 78444742 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 78444742 78444742 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.2331 p.S777 0.004 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 50 8 13.79 71 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78444771 78444771 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 78444771 78444771 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2360 p.R787Q 0.991 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 52 7 11.86 76 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78513722 78513722 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 78513722 78513722 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.3746 p.R1249Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 15 12 44.44 25 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78515749 78515749 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 12 78515749 78515749 C G SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.3779 p.S1260C 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 9 5 35.71 22 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78553032 78553032 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 78553032 78553032 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4835 p.R1612Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 37 8 17.78 41 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78562612 78562612 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 78562612 78562612 G C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4947 p.Q1649H 0.998 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 57 26 31.33 81 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78569092 78569092 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 78569092 78569092 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4988 p.R1663H 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 39 11 21.57 81 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78571084 78571084 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 78571084 78571084 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5288 p.S1763F 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 22 13 37.14 44 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78571090 78571090 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 78571090 78571090 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5294 p.S1765L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 61 23 27.38 32 0 0.00 NAV3 89795 genome.wustl.edu 37 12 78582497 78582497 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 78582497 78582497 G C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5995 p.E1999Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 48 18 27.27 34 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15307270 15307270 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 15307270 15307270 C A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known nonsense c.7018 p.E2340* 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 42 6 12.50 28 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15372596 15372596 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 15372596 15372596 C T SNP NBAS ENST00000281513 human ensembl 70_37 -1 known silent c.6186 p.L2062 0.665 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 24 16 40.00 41 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15427261 15427261 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 2 15427261 15427261 G A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.5074 p.R1692C 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 30 4 11.76 23 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15427303 15427303 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 15427303 15427303 G C SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.5032 p.L1678V 0.991 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 24 9 27.27 25 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15432833 15432833 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 15432833 15432833 C T SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.4855 p.E1619K 0.011 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 37 27 42.19 50 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15534390 15534390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 15534390 15534390 C T SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.3218 p.R1073H 0.619 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 14 4 22.22 32 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15555687 15555687 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 15555687 15555687 G A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known nonsense c.2920 p.Q974* 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 40 9 18.37 43 0 0.00 NBAS 51594 genome.wustl.edu 37 2 15614432 15614432 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 15614432 15614432 G A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.1358 p.A453V 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 56 24 30.00 65 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35622736 35622736 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 35622736 35622736 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known nonsense c.760 p.Q254* 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 67 13 16.25 76 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35692417 35692417 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 13 35692417 35692417 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.2135 p.T712M 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 44 32 42.11 89 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35736037 35736037 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 35736037 35736037 C G SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.4012 p.P1338A 0.992 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 15 17 53.12 47 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35747728 35747728 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 35747728 35747728 G A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.4551 p.S1517 0.054 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 31 7 18.42 28 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35751232 35751232 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 35751232 35751232 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.4654 p.R1552W 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 42 19 31.15 81 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35770151 35770151 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 35770151 35770151 C A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.5078 p.T1693K 0.026 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 29 18 38.30 36 0 0.00 NBEA 26960 genome.wustl.edu 37 13 35926395 35926395 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 13 35926395 35926395 G A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.6114 p.Q2038 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 17 3 15.00 39 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36026233 36026233 + Silent SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 13 36026233 36026233 G T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.6309 p.T2103 0.997 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 10 4 28.57 26 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36026253 36026253 + Nonsense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 36026253 36026253 C G SNP NBEA ENST00000310336 human ensembl 70_37 +1 known nonsense c.6329 p.S2110* 0.966 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 20 7 25.93 13 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36129178 36129178 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36129178 36129178 G T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.6861 p.Q2287H 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 30 11 26.83 66 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36220012 36220012 + Nonsense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 13 36220012 36220012 G T SNP NBEA ENST00000379922 human ensembl 70_37 +1 known nonsense c.295 p.E99* 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 28 4 12.50 31 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36220484 36220484 + Missense_Mutation SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 13 36220484 36220484 T C SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.7706 p.L2569P 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 23 4 14.81 34 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36229092 36229092 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 36229092 36229092 T C SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.8073 p.Y2691 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 23 7 23.33 42 0 0.00 NBEA 26960 genome.wustl.edu 37 13 36239230 36239230 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 36239230 36239230 C G SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.8308 p.P2770A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 35 13 27.08 34 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203922058 203922058 + Frame_Shift_Del DEL A A - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 203922058 203922058 A - DEL NBEAL1 ENST00000449802 human ensembl 70_37 +1 known frame_shift_del c.397 p.E136fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 26 3 10.34 51 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203948108 203948108 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 203948108 203948108 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.851 p.S284C 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 63 25 28.09 69 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203948174 203948174 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948174 203948174 A T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.917 p.H306L 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 42 12 22.22 67 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203948177 203948177 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948177 203948177 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.920 p.S307L 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 43 11 20.37 66 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203948191 203948191 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948191 203948191 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.934 p.Q312* 0.991 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 43 10 18.87 62 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 203972541 203972541 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 203972541 203972541 G C SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.1492 p.D498H 0.947 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 37 26 41.27 64 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204000415 204000415 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 204000415 204000415 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.3742 p.Q1248* 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 9 13 59.09 11 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 204000956 204000956 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.4283 p.S1428C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 22 10 31.25 33 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204013810 204013810 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 204013810 204013810 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.5314 p.L1772V 0.873 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 34 8 19.05 53 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204016230 204016230 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 204016230 204016230 T G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.5418 p.N1806K 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 18 7 28.00 49 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204048102 204048102 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 204048102 204048102 G C SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.6609 p.R2203S 0.994 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 15 18 54.55 25 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204073911 204073911 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 204073911 204073911 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.7564 p.Q2522* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 84 35 29.41 132 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204074025 204074025 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 204074025 204074025 G A SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7678 p.E2560K 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 27 4 12.90 45 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204075737 204075737 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 204075737 204075737 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7755 p.I2585M 0.709 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 63 37 36.63 89 0 0.00 NBEAL1 65065 genome.wustl.edu 37 2 204075772 204075772 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 204075772 204075772 G C SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7790 p.G2597A 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 28 4 12.50 34 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47030778 47030778 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 47030778 47030778 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.380 p.R127Q 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 36 19 34.55 57 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47033349 47033349 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47033349 47033349 G T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known silent c.945 p.L315 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 13 3 18.75 34 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47037080 47037080 + Missense_Mutation SNP A A G TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 3 47037080 47037080 A G SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.1855 p.T619A 0.004 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 16 6 27.27 28 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47039707 47039707 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 47039707 47039707 G T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.3109 p.V1037L 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 44 5 10.20 95 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47041727 47041727 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 3 47041727 47041727 C G SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4138 p.L1380V 0.073 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 86 24 21.62 79 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47042572 47042572 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 47042572 47042572 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4387 p.E1463K 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 21 3 12.50 30 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47043554 47043554 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47043554 47043554 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4927 p.D1643N 0.010 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 20 10 33.33 16 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47045644 47045644 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 47045644 47045644 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.5959 p.A1987T 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 35 4 10.26 39 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47047475 47047475 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 47047475 47047475 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.6841 p.D2281N 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 22 16 42.11 60 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47049617 47049617 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47049617 47049617 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.7660 p.A2554T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 93 27 22.50 94 0 0.00 NBEAL2 23218 genome.wustl.edu 37 3 47049909 47049909 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 47049909 47049909 C T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.7856 p.A2619V 0.147 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 75 11 12.36 69 0 0.00 NBL1 4681 genome.wustl.edu 37 1 19981629 19981629 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 19981629 19981629 G A SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known missense c.211 p.E71K 1.000 pfam_DAN,pfam_Cys_knot pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 35 12 25.53 32 0 0.00 NBL1 4681 genome.wustl.edu 37 1 19981643 19981643 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 19981643 19981643 C T SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known silent c.225 p.I75 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 32 6 15.79 56 0 0.00 NBL1 4681 genome.wustl.edu 37 1 19981847 19981847 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 19981847 19981847 C T SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known silent c.306 p.S102 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 61 16 20.78 39 0 0.00 HAND2-AS1 79804 genome.wustl.edu 37 4 174448572 174448572 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 174448572 174448572 C T SNP NBLA00301 ENST00000512099 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-471J12.1 Clone_based_vega_gene ENSG00000237125 53 15 22.06 56 0 0.00 HAND2-AS1 79804 genome.wustl.edu 37 4 174448614 174448614 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 174448614 174448614 G A SNP NBLA00301 ENST00000512099 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-471J12.1 Clone_based_vega_gene ENSG00000237125 34 4 10.53 34 0 0.00 HAND2-AS1 79804 genome.wustl.edu 37 4 174458096 174458096 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 174458096 174458096 G C SNP NBLA00301 ENST00000502334 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-471J12.1 Clone_based_vega_gene ENSG00000237125 42 19 31.15 71 0 0.00 HAND2-AS1 79804 genome.wustl.edu 37 4 174506151 174506151 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 174506151 174506151 C A SNP NBLA00301 ENST00000503474 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-471J12.1 Clone_based_vega_gene ENSG00000237125 27 4 12.90 36 0 0.00 NBN 4683 genome.wustl.edu 37 8 90990479 90990479 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 90990479 90990479 C T SNP NBN ENST00000265433 human ensembl 70_37 -1 known missense c.553 p.E185K 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 34 22 39.29 44 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16889866 16889866 + RNA SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 16889866 16889866 G A SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NBPF1 HGNC ENSG00000219481 5 6 54.55 9 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC ENSG00000219481 13 8 38.10 8 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC ENSG00000219481 8 8 50.00 11 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC ENSG00000219481 12 6 33.33 9 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC ENSG00000219481 14 5 25.00 9 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16890342 16890342 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 16890342 16890342 C T SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors NBPF1 HGNC ENSG00000219481 96 35 26.72 238 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16890647 16890647 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 16890647 16890647 C T SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors NBPF1 HGNC ENSG00000219481 750 138 15.47 790 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16903865 16903865 + RNA SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 16903865 16903865 T C SNP NBPF1 ENST00000392963 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC ENSG00000219481 212 27 11.30 275 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16921146 16921146 + RNA SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 16921146 16921146 T C SNP NBPF1 ENST00000420513 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC ENSG00000219481 17 4 19.05 10 0 0.00 NBPF1 55672 genome.wustl.edu 37 1 16935096 16935096 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16935096 16935096 G T SNP NBPF1 ENST00000420513 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC ENSG00000219481 70 8 10.26 111 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145292925 145292925 + RNA SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 145292925 145292925 C T SNP NBPF10 ENST00000464433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF10 HGNC ENSG00000163386 14 6 30.00 11 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145293069 145293069 + RNA SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 145293069 145293069 A T SNP NBPF10 ENST00000464433 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors NBPF10 HGNC ENSG00000163386 47 6 11.32 32 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145296382 145296382 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 145296382 145296382 C G SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.304 p.Q102E 0.002 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 148 21 12.43 208 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145298168 145298168 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 145298168 145298168 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.580 p.A194T 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 19 6 24.00 13 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145299857 145299857 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 145299857 145299857 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known silent c.906 p.K302 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 360 53 12.83 325 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145301734 145301734 + Missense_Mutation SNP A A G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 145301734 145301734 A G SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.1003 p.K335E 0.001 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 367 58 13.62 385 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145304593 145304593 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 145304593 145304593 C G SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known nonsense c.1526 p.S509* 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 323 49 13.17 421 1 0.24 NBPF10 100132406 genome.wustl.edu 37 1 145311874 145311874 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 145311874 145311874 G C SNP NBPF10 ENST00000369338 human ensembl 70_37 +1 known missense c.1123 p.E375Q 0.002 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 19 8 29.63 60 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145323656 145323656 + Missense_Mutation SNP A A T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 145323656 145323656 A T SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.3493 p.I1165F 0.007 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 35 11 23.91 32 0 0.00 NBPF10 100132406 genome.wustl.edu 37 1 145326060 145326060 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 145326060 145326060 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known silent c.3933 p.Q1311 0.008 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 13 6 31.58 20 0 0.00 NBPF11 200030 genome.wustl.edu 37 1 146055349 146055349 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 146055349 146055349 G A SNP NBPF11 ENST00000339388 human ensembl 70_37 -1 known missense c.274 p.L92F 0.060 NULL pfam_NBPF_dom,superfamily_Secretoglobin - no_errors NBPF11 HGNC ENSG00000152042 9 6 37.50 9 0 0.00 NBPF12 149013 genome.wustl.edu 37 1 146408047 146408047 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 146408047 146408047 G C SNP NBPF12 ENST00000446760 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 8 34 80.95 49 0 0.00 NBPF15 284565 genome.wustl.edu 37 1 148594447 148594447 + Nonsense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 148594447 148594447 C G SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known nonsense c.1820 p.S607* 0.022 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 118 43 26.71 158 0 0.00 NBPF15 284565 genome.wustl.edu 37 1 148594456 148594456 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 148594456 148594456 G A SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known missense c.1829 p.R610K 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 37 36 49.32 30 0 0.00 NBPF15 284565 genome.wustl.edu 37 1 148594456 148594456 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 148594456 148594456 G A SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known missense c.1829 p.R610K 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 425 237 35.69 559 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148252752 148252752 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 148252752 148252752 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.13600 p.D4534H 0.048 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 47 20 25.64 66 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148252781 148252781 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 148252781 148252781 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.13571 p.R4524T 0.042 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 92 15 14.02 107 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148252786 148252786 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 148252786 148252786 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.13566 p.K4522N 0.028 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 58 22 27.50 70 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148341855 148341855 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 148341855 148341855 G A SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known silent c.718 p.L240 0.028 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 64 10 13.51 58 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148342507 148342507 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 148342507 148342507 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.529 p.E177Q 0.046 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 376 92 19.57 384 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148343671 148343671 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 148343671 148343671 G A SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.416 p.S139F 0.020 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 102 19 15.70 99 0 0.00 NBPF20 100288142 genome.wustl.edu 37 1 148344705 148344705 + Silent SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 148344705 148344705 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known silent c.213 p.L71 0.009 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 330 40 10.81 415 0 0.00 NBPF22P 285622 genome.wustl.edu 37 5 85583496 85583496 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 85583496 85583496 C T SNP NBPF22P ENST00000590707 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF22P HGNC ENSG00000205449 132 27 16.98 105 0 0.00 NBPF22P 285622 genome.wustl.edu 37 5 85589062 85589062 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 85589062 85589062 C T SNP NBPF22P ENST00000590707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NBPF22P HGNC ENSG00000205449 17 8 32.00 23 0 0.00 NBPF3 84224 genome.wustl.edu 37 1 21807446 21807446 + Nonsense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 21807446 21807446 G T SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known nonsense c.1405 p.E469* 0.019 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 168 32 15.92 199 1 0.50 NBPF3 84224 genome.wustl.edu 37 1 21809724 21809724 + Missense_Mutation SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 21809724 21809724 C G SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known missense c.1747 p.Q583E 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 9 4 30.77 15 0 0.00 NBPF3 84224 genome.wustl.edu 37 1 21809763 21809763 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 21809763 21809763 T C SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known missense c.1786 p.Y596H 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 11 5 31.25 21 0 0.00 NBPF4 148545 genome.wustl.edu 37 1 108766233 108766233 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 108766233 108766233 G A SNP NBPF4 ENST00000487594 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF4 HGNC ENSG00000196427 16 10 38.46 32 0 0.00 NBPF6 653149 genome.wustl.edu 37 1 109007929 109007929 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 109007929 109007929 C T SNP NBPF6 ENST00000370040 human ensembl 70_37 +1 known nonsense c.1630 p.R544* 0.000 NULL pfam_NBPF_dom - no_errors NBPF6 HGNC ENSG00000186086 25 4 13.79 36 0 0.00 NBPF8 728841 genome.wustl.edu 37 1 144607025 144607025 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 144607025 144607025 G A SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.281 - - - no_errors NBPF8 HGNC ENSG00000225241 23 8 25.81 29 0 0.00 NBPF8 728841 genome.wustl.edu 37 1 144615114 144615114 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144615114 144615114 C T SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.618 - - - no_errors NBPF8 HGNC ENSG00000225241 61 45 42.45 81 0 0.00 NBPF8 728841 genome.wustl.edu 37 1 144618251 144618251 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 144618251 144618251 G A SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors NBPF8 HGNC ENSG00000225241 69 19 21.59 108 0 0.00 NBPF9 400818 genome.wustl.edu 37 1 144814603 144814603 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 144814603 144814603 A G SNP NBPF9 ENST00000465793 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors NBPF9 HGNC ENSG00000168614 83 40 32.52 84 0 0.00 NBR1 4077 genome.wustl.edu 37 17 41345409 41345409 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41345409 41345409 G C SNP NBR1 ENST00000341165 human ensembl 70_37 +1 known missense c.1278 p.K426N 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 45 22 32.84 83 0 0.00 NBR1 4077 genome.wustl.edu 37 17 41348588 41348588 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 41348588 41348588 C T SNP NBR1 ENST00000341165 human ensembl 70_37 +1 known missense c.1841 p.A614V 0.242 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 29 25 46.30 31 0 0.00 NBR2 10230 genome.wustl.edu 37 17 41296946 41296946 + RNA SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 17 41296946 41296946 C T SNP NBR2 ENST00000460115 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors NBR2 HGNC ENSG00000198496 8 4 33.33 25 0 0.00 NCALD 83988 genome.wustl.edu 37 8 102731624 102731624 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 102731624 102731624 C T SNP NCALD ENST00000311028 human ensembl 70_37 -1 known silent c.234 p.G78 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 97 18 15.65 58 0 0.00 NCALD 83988 genome.wustl.edu 37 8 102731654 102731654 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 102731654 102731654 G A SNP NCALD ENST00000311028 human ensembl 70_37 -1 known silent c.204 p.V68 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 84 15 15.15 50 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113076287 113076287 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 113076287 113076287 G A SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.359 p.R120Q 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 49 21 30.00 61 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113102431 113102431 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 113102431 113102431 T C SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.1124 p.I375T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 43 12 21.82 94 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113105875 113105875 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 113105875 113105875 C T SNP NCAM1 ENST00000316851 human ensembl 70_37 +1 known missense c.1784 p.T595M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 20 19 48.72 26 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113143755 113143755 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113143755 113143755 C G SNP NCAM1 ENST00000531044 human ensembl 70_37 +1 putative missense c.2173 p.Q725E 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 35 20 35.71 68 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113144009 113144009 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113144009 113144009 C T SNP NCAM1 ENST00000528158 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC ENSG00000149294 16 11 40.74 20 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113146829 113146829 + RNA SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 113146829 113146829 G C SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC ENSG00000149294 19 4 17.39 26 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113147597 113147597 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113147597 113147597 T G SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC ENSG00000149294 13 4 23.53 38 0 0.00 NCAM1 4684 genome.wustl.edu 37 11 113148183 113148183 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 113148183 113148183 G A SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCAM1 HGNC ENSG00000149294 9 8 47.06 32 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22707864 22707864 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 22707864 22707864 G C SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.777 p.L259F 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 48 11 18.64 79 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22710717 22710717 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 22710717 22710717 C G SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.907 p.H303D 1.000 pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 35 13 27.08 45 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22710717 22710717 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 21 22710717 22710717 C T SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.907 p.H303Y 1.000 pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 46 12 20.69 39 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22710836 22710836 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 21 22710836 22710836 G A SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known silent c.1026 p.T342 0.055 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 16 9 36.00 44 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22746206 22746206 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 22746206 22746206 C T SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known silent c.1068 p.V356 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 133 31 18.90 146 1 0.68 NCAM2 4685 genome.wustl.edu 37 21 22790877 22790877 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 22790877 22790877 C A SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.1468 p.L490I 1.000 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 14 12 46.15 39 0 0.00 NCAM2 4685 genome.wustl.edu 37 21 22906976 22906976 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 22906976 22906976 G C SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.2401 p.E801Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 41 22 34.92 76 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19327807 19327807 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19327807 19327807 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.45 p.Q15H 0.012 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 52 17 24.64 80 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19337411 19337411 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 19337411 19337411 G A SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.1189 p.E397K 0.030 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 36 4 10.00 55 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19338264 19338264 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 19338264 19338264 C T SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.1835 p.S612L 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 73 21 22.34 89 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19339343 19339343 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19339343 19339343 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.2914 p.E972Q 0.050 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 51 40 43.96 45 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19351423 19351423 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19351423 19351423 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.3421 p.E1141Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 36 26 41.27 51 0 0.00 NCAN 1463 genome.wustl.edu 37 19 19360596 19360596 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 19360596 19360596 G A SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.3842 p.R1281Q 0.356 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 18 11 36.67 59 0 0.00 NCAPD2 9918 genome.wustl.edu 37 12 6626091 6626091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 6626091 6626091 G A SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.1085 p.R362K 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 41 18 30.51 79 0 0.00 NCAPD2 9918 genome.wustl.edu 37 12 6638001 6638001 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6638001 6638001 C G SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 41 20 32.79 48 0 0.00 NCAPD2 9918 genome.wustl.edu 37 12 6639978 6639978 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6639978 6639978 C G SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.3959 p.S1320C 0.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 108 31 22.30 148 0 0.00 NCAPD3 23310 genome.wustl.edu 37 11 134027950 134027950 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 134027950 134027950 C A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known silent c.4047 p.L1349 1.000 pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 130 26 16.56 179 0 0.00 NCAPD3 23310 genome.wustl.edu 37 11 134047138 134047138 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 134047138 134047138 G A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known silent c.2997 p.L999 0.624 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 74 23 23.71 95 0 0.00 NCAPD3 23310 genome.wustl.edu 37 11 134063985 134063985 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 134063985 134063985 G A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known silent c.1750 p.L584 0.998 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 19 4 17.39 13 0 0.00 NCAPD3 23310 genome.wustl.edu 37 11 134079287 134079287 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 134079287 134079287 G A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known missense c.652 p.H218Y 0.033 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 23 9 28.12 46 0 0.00 NCAPG 64151 genome.wustl.edu 37 4 17839398 17839398 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 17839398 17839398 C T SNP NCAPG ENST00000251496 human ensembl 70_37 +1 known nonsense c.2440 p.Q814* 1.000 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 164 72 30.38 256 0 0.00 NCAPG2 54892 genome.wustl.edu 37 7 158458073 158458073 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 158458073 158458073 G A SNP NCAPG2 ENST00000474940 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors NCAPG2 HGNC ENSG00000146918 46 33 41.77 30 0 0.00 NCAPG2 54892 genome.wustl.edu 37 7 158476039 158476039 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 158476039 158476039 C T SNP NCAPG2 ENST00000409339 human ensembl 70_37 -1 known missense c.877 p.G293R 0.998 pfam_Condensin2_G2,superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 42 24 36.36 70 0 0.00 NCAPH 23397 genome.wustl.edu 37 2 97019969 97019969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 97019969 97019969 G C SNP NCAPH ENST00000240423 human ensembl 70_37 +1 known missense c.1051 p.D351H 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 32 34 51.52 48 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50954903 50954903 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 50954903 50954903 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.136 p.E46K 0.999 NULL pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 30 6 16.67 72 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50956041 50956041 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 50956041 50956041 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.302 p.R101K 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 26 7 21.21 26 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50956613 50956613 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 50956613 50956613 C T SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known silent c.552 p.C184 0.855 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 7 6 46.15 26 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50957693 50957693 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50957693 50957693 G C SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.805 p.E269Q 0.016 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 18 11 37.93 29 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50959393 50959393 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50959393 50959393 G C SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known splice_site c.862-1 e10-1 0.993 - - - no_errors NCAPH2 HGNC ENSG00000025770 14 11 44.00 35 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50960208 50960208 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 50960208 50960208 C G SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.1039 p.L347V 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 70 25 26.32 81 0 0.00 NCAPH2 29781 genome.wustl.edu 37 22 50960969 50960969 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50960969 50960969 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.1349 p.G450E 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 30 33 52.38 56 0 0.00 NCBP1 4686 genome.wustl.edu 37 9 100407993 100407993 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100407993 100407993 C T SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known missense c.590 p.A197V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 18 5 21.74 50 0 0.00 NCBP1 4686 genome.wustl.edu 37 9 100418318 100418318 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 100418318 100418318 G A SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known missense c.1324 p.E442K 1.000 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 24 3 11.11 26 0 0.00 NCBP1 4686 genome.wustl.edu 37 9 100423313 100423313 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100423313 100423313 G A SNP NCBP1 ENST00000375147 human ensembl 70_37 +1 known silent c.1563 p.L521 1.000 pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 43 10 18.87 57 0 0.00 NCDN 23154 genome.wustl.edu 37 1 36023765 36023765 + RNA SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 36023765 36023765 C G SNP NCDN ENST00000459931 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NCDN HGNC ENSG00000020129 60 15 20.00 77 0 0.00 NCDN 23154 genome.wustl.edu 37 1 36028072 36028072 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 36028072 36028072 C T SNP NCDN ENST00000356090 human ensembl 70_37 +1 known missense c.1223 p.S408L 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 95 42 30.66 137 0 0.00 NCF1 653361 genome.wustl.edu 37 7 74191962 74191962 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 74191962 74191962 G A SNP NCF1 ENST00000443956 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors NCF1 HGNC ENSG00000158517 6 4 40.00 8 0 0.00 NCF1 653361 genome.wustl.edu 37 7 74203029 74203029 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 74203029 74203029 G A SNP NCF1 ENST00000289473 human ensembl 70_37 +1 known silent c.1032 p.Q344 0.010 pfam_NADPH_oxidase_p47Phox_C pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain - no_errors NCF1 HGNC ENSG00000158517 28 14 33.33 36 0 0.00 NCF1B 654816 genome.wustl.edu 37 7 72639950 72639950 + RNA SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 7 72639950 72639950 G A SNP NCF1B ENST00000432102 human ensembl 70_37 +1 known rna NULL NULL 0.580 - - - no_errors NCF1B HGNC ENSG00000182487 158 33 17.28 177 0 0.00 NCF1B 654816 genome.wustl.edu 37 7 72640045 72640045 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 72640045 72640045 C T SNP NCF1B ENST00000432102 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors NCF1B HGNC ENSG00000182487 80 47 37.01 117 0 0.00 NCF2 4688 genome.wustl.edu 37 1 183536381 183536381 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 183536381 183536381 C T SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known silent c.813 p.K271 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 15 16 51.61 11 0 0.00 NCF2 4688 genome.wustl.edu 37 1 183536404 183536404 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 183536404 183536404 C T SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known missense c.790 p.G264R 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 21 19 47.50 13 0 0.00 NCF2 4688 genome.wustl.edu 37 1 183542373 183542373 + Missense_Mutation SNP T T A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 183542373 183542373 T A SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known missense c.556 p.N186Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 39 22 36.07 50 0 0.00 NCF4 4689 genome.wustl.edu 37 22 37260991 37260991 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37260991 37260991 G C SNP NCF4 ENST00000397147 human ensembl 70_37 +1 known missense c.148 p.G50R 0.996 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 21 7 24.14 23 0 0.00 NCF4 4689 genome.wustl.edu 37 22 37273686 37273686 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 37273686 37273686 G C SNP NCF4 ENST00000248899 human ensembl 70_37 +1 known missense c.841 p.E281Q 0.361 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 31 21 40.38 40 0 0.00 NCK1 4690 genome.wustl.edu 37 3 136664454 136664454 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 136664454 136664454 G A SNP NCK1 ENST00000288986 human ensembl 70_37 +1 known missense c.256 p.V86M 1.000 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 75 9 10.71 95 0 0.00 NCK1 4690 genome.wustl.edu 37 3 136664512 136664512 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 3 136664512 136664512 A G SNP NCK1 ENST00000288986 human ensembl 70_37 +1 known missense c.314 p.Y105C 1.000 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 81 13 13.83 79 0 0.00 NCK2 8440 genome.wustl.edu 37 2 106471654 106471654 + Silent SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 106471654 106471654 C A SNP NCK2 ENST00000233154 human ensembl 70_37 +1 known silent c.135 p.A45 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 28 16 36.36 55 0 0.00 NCKAP1 10787 genome.wustl.edu 37 2 183826922 183826922 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 183826922 183826922 C T SNP NCKAP1 ENST00000360982 human ensembl 70_37 -1 known missense c.1864 p.D622N 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 90 36 28.57 130 0 0.00 NCKAP1 10787 genome.wustl.edu 37 2 183826937 183826937 + Nonsense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 183826937 183826937 G A SNP NCKAP1 ENST00000360982 human ensembl 70_37 -1 known nonsense c.1849 p.R617* 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 45 17 27.42 68 0 0.00 NCKAP1 10787 genome.wustl.edu 37 2 183860443 183860443 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 183860443 183860443 C T SNP NCKAP1 ENST00000360982 human ensembl 70_37 -1 known missense c.745 p.A249T 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 59 25 29.76 65 0 0.00 NCKAP1L 3071 genome.wustl.edu 37 12 54925340 54925340 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 54925340 54925340 G C SNP NCKAP1L ENST00000293373 human ensembl 70_37 +1 known missense c.2670 p.L890F 0.797 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 101 30 22.73 152 0 0.00 NCKAP1L 3071 genome.wustl.edu 37 12 54929976 54929976 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54929976 54929976 C T SNP NCKAP1L ENST00000293373 human ensembl 70_37 +1 known missense c.3020 p.S1007F 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 38 15 28.30 91 0 0.00 NCKAP5 344148 genome.wustl.edu 37 2 133489419 133489419 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 133489419 133489419 G A SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known silent c.5334 p.D1778 0.007 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 34 11 24.44 66 0 0.00 NCKAP5 344148 genome.wustl.edu 37 2 133540060 133540060 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 133540060 133540060 T C SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known missense c.4324 p.T1442A 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 24 3 11.11 31 0 0.00 NCKAP5 344148 genome.wustl.edu 37 2 133887640 133887640 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 133887640 133887640 C T SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known missense c.251 p.R84H 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 12 7 36.84 39 0 0.00 NCKAP5 344148 genome.wustl.edu 37 2 133887672 133887672 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 133887672 133887672 C T SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known silent c.219 p.L73 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 15 18 54.55 33 0 0.00 NCKAP5L 57701 genome.wustl.edu 37 12 50195664 50195664 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50195664 50195664 C T SNP NCKAP5L ENST00000335999 human ensembl 70_37 -1 known silent c.318 p.Q106 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 16 19 54.29 32 0 0.00 NCKIPSD 51517 genome.wustl.edu 37 3 48701446 48701446 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48701446 48701446 G A SNP NCKIPSD ENST00000341520 human ensembl 70_37 -1 known missense c.2087 p.S696F 0.004 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 71 20 21.98 80 0 0.00 NCKIPSD 51517 genome.wustl.edu 37 3 48701492 48701492 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48701492 48701492 C T SNP NCKIPSD ENST00000341520 human ensembl 70_37 -1 known missense c.2041 p.E681K 0.005 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 63 32 33.68 100 0 0.00 NCKIPSD 51517 genome.wustl.edu 37 3 48719192 48719192 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 48719192 48719192 G T SNP NCKIPSD ENST00000294129 human ensembl 70_37 -1 known missense c.620 p.S207Y 0.141 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 44 5 10.20 25 0 0.00 NCL 4691 genome.wustl.edu 37 2 232321788 232321788 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 232321788 232321788 C G SNP NCL ENST00000322723 human ensembl 70_37 -1 known missense c.1495 p.E499Q 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 27 17 38.64 28 0 0.00 NCL 4691 genome.wustl.edu 37 2 232323043 232323043 + Missense_Mutation SNP T T C TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 2 232323043 232323043 T C SNP NCL ENST00000322723 human ensembl 70_37 -1 known missense c.1223 p.E408G 0.997 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 4 30 88.24 42 0 0.00 NCL 4691 genome.wustl.edu 37 2 232326377 232326377 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 232326377 232326377 C T SNP NCL ENST00000322723 human ensembl 70_37 -1 known missense c.487 p.E163K 0.704 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 187 89 32.25 186 0 0.00 NCLN 56926 genome.wustl.edu 37 19 3186080 3186080 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 3186080 3186080 C G SNP NCLN ENST00000246117 human ensembl 70_37 +1 known missense c.52 p.L18V 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 13 6 31.58 15 0 0.00 NCLN 56926 genome.wustl.edu 37 19 3193402 3193402 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3193402 3193402 C T SNP NCLN ENST00000246117 human ensembl 70_37 +1 known nonsense c.496 p.Q166* 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 11 5 31.25 24 0 0.00 NCOA1 8648 genome.wustl.edu 37 2 24916163 24916163 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 24916163 24916163 G A SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.755 p.R252Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC ENSG00000084676 94 17 15.32 115 0 0.00 NCOA1 8648 genome.wustl.edu 37 2 24927964 24927964 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 24927964 24927964 G A SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.959 p.R320H 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC ENSG00000084676 28 4 12.50 17 0 0.00 NCOA1 8648 genome.wustl.edu 37 2 24930054 24930054 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 24930054 24930054 G C SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.1715 p.R572T 0.997 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC ENSG00000084676 10 33 76.74 19 0 0.00 NCOA1 8648 genome.wustl.edu 37 2 24930525 24930525 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24930525 24930525 C G SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.2186 p.S729C 0.410 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC ENSG00000084676 19 8 29.63 29 0 0.00 NCOA2 10499 genome.wustl.edu 37 8 71036975 71036975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 71036975 71036975 G C SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known missense c.4042 p.Q1348E 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA2 HGNC ENSG00000140396 65 51 43.97 80 0 0.00 NCOA2 10499 genome.wustl.edu 37 8 71036975 71036975 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 71036975 71036975 G A SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known nonsense c.4042 p.Q1348* 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA2 HGNC ENSG00000140396 62 25 28.74 66 0 0.00 NCOA2 10499 genome.wustl.edu 37 8 71128948 71128948 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 71128948 71128948 G A SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known silent c.33 p.P11 0.738 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA2 HGNC ENSG00000140396 155 46 22.89 242 0 0.00 NCOA3 8202 genome.wustl.edu 37 20 46265142 46265142 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 46265142 46265142 C G SNP NCOA3 ENST00000371998 human ensembl 70_37 +1 known missense c.2012 p.S671C 1.000 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA3 HGNC ENSG00000124151 151 28 15.47 202 0 0.00 NCOA4 8031 genome.wustl.edu 37 10 51585289 51585289 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 51585289 51585289 C T SNP NCOA4 ENST00000452682 human ensembl 70_37 +1 known missense c.1436 p.P479L 0.847 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 28 13 31.71 44 0 0.00 NCOA5 57727 genome.wustl.edu 37 20 44692204 44692204 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 44692204 44692204 C G SNP NCOA5 ENST00000290231 human ensembl 70_37 -1 known missense c.945 p.K315N 1.000 superfamily_Anticodon-bd superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 27 10 27.03 56 0 0.00 NCOA5 57727 genome.wustl.edu 37 20 44695767 44695767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44695767 44695767 C T SNP NCOA5 ENST00000290231 human ensembl 70_37 -1 known missense c.556 p.E186K 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 60 22 26.83 52 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33328193 33328193 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 33328193 33328193 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.5867 p.S1956F 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 29 23 44.23 32 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33328287 33328287 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 33328287 33328287 C T SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.5773 p.E1925K 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 46 29 38.67 90 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33337504 33337504 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 33337504 33337504 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.2494 p.H832Y 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 34 28 45.16 52 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33338291 33338291 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 33338291 33338291 C G SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.1707 p.Q569H 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 40 14 25.45 51 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33342596 33342596 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 33342596 33342596 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.1604 p.S535L 0.998 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 52 58 52.73 62 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33345195 33345195 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 33345195 33345195 C T SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known silent c.1356 p.Q452 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 134 219 62.04 166 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33356297 33356297 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 33356297 33356297 C A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known nonsense c.484 p.E162* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 33 21 38.89 33 0 0.00 NCOA6 23054 genome.wustl.edu 37 20 33356297 33356297 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 33356297 33356297 C A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known nonsense c.484 p.E162* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 90 47 34.31 170 0 0.00 NCOA7 135112 genome.wustl.edu 37 6 126249855 126249855 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 126249855 126249855 G A SNP NCOA7 ENST00000368357 human ensembl 70_37 +1 known missense c.2767 p.D923N 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 23 31 57.41 38 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 15964768 15964768 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 15964768 15964768 G A SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.5828 p.S1943L 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 55 9 14.06 67 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 15976879 15976879 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15976879 15976879 A C SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.3675 p.I1225M 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 35 12 25.53 69 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 15976884 15976884 + Splice_Site SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 15976884 15976884 C T SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known splice_site c.3671-1 e27-1 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 65 42 39.25 79 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 15978916 15978916 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15978916 15978916 C T SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.3602 p.R1201K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 29 11 27.50 34 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 16001722 16001722 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 16001722 16001722 G A SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known silent c.2779 p.L927 0.980 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 33 20 37.74 52 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 16012109 16012109 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 16012109 16012109 C G SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.2173 p.D725H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 22 8 26.67 24 0 0.00 NCOR1 9611 genome.wustl.edu 37 17 16021223 16021223 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 16021223 16021223 G A SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known silent c.2034 p.L678 0.987 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 90 24 21.05 116 0 0.00 NCOR1P1 149934 genome.wustl.edu 37 20 26084087 26084087 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 26084087 26084087 A C SNP NCOR1P1 ENST00000478176 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors NCOR1P1 HGNC ENSG00000240108 30 15 33.33 51 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124812015 124812015 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124812015 124812015 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.7144 p.P2382S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 43 6 12.24 42 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124821320 124821320 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 124821320 124821320 C G SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.6115 p.E2039Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 31 8 20.51 70 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124821712 124821712 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124821712 124821712 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.5723 p.S1908F 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 26 19 42.22 38 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124832779 124832779 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 124832779 124832779 C T SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.3947 p.R1316H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 61 14 18.67 116 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124862910 124862910 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124862910 124862910 C T SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known silent c.2040 p.R680 0.974 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 43 24 35.82 64 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124886952 124886952 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 124886952 124886952 G C SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known silent c.1638 p.L546 0.890 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 64 11 14.67 81 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124887058 124887059 + In_Frame_Ins INS - - GCT TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 124887058 124887059 - GCT INS NCOR2 ENST00000356219 human ensembl 70_37 -1 known in_frame_ins c.1532_1531 p.511in_frame_insQ 0.999:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 23 5 17.86 16 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124914165 124914165 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 124914165 124914165 C A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.1143 p.E381D 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 13 4 23.53 22 0 0.00 NCOR2 9612 genome.wustl.edu 37 12 124968228 124968228 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 124968228 124968228 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.325 p.R109W 0.971 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 134 24 15.09 154 0 0.00 NCR1 9437 genome.wustl.edu 37 19 55417656 55417656 + Splice_Site SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 55417656 55417656 G A SNP NCR1 ENST00000291890 human ensembl 70_37 +1 known splice_site c.35-1 e2-1 0.799 - - - no_errors NCR1 HGNC ENSG00000189430 52 30 36.59 75 0 0.00 NCR2 9436 genome.wustl.edu 37 6 41310655 41310655 + Splice_Site SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 41310655 41310655 G T SNP NCR2 ENST00000373086 human ensembl 70_37 +1 known splice_site c.681-1 e5-1 0.002 - - - no_errors NCR2 HGNC ENSG00000096264 33 4 10.81 51 0 0.00 NCR2 9436 genome.wustl.edu 37 6 41318486 41318486 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41318486 41318486 C G SNP NCR2 ENST00000373089 human ensembl 70_37 +1 known missense c.715 p.Q239E 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 21 19 47.50 51 0 0.00 NCR2 9436 genome.wustl.edu 37 6 41318523 41318523 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 41318523 41318523 C T SNP NCR2 ENST00000373089 human ensembl 70_37 +1 known missense c.752 p.S251L 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 25 16 39.02 42 0 0.00 NCR3 259197 genome.wustl.edu 37 6 31557651 31557651 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 31557651 31557651 C T SNP NCR3 ENST00000340027 human ensembl 70_37 -1 known missense c.296 p.R99Q 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR3 HGNC ENSG00000204475 35 27 43.55 30 0 0.00 NCR3LG1 374383 genome.wustl.edu 37 11 17378247 17378247 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 17378247 17378247 G A SNP NCR3LG1 ENST00000530403 human ensembl 70_37 +1 known silent c.120 p.L40 0.101 smart_Ig_sub pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors NCR3LG1 HGNC ENSG00000188211 56 18 24.32 86 0 0.00 NCR3LG1 374383 genome.wustl.edu 37 11 17388562 17388562 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17388562 17388562 C T SNP NCR3LG1 ENST00000530403 human ensembl 70_37 +1 known missense c.428 p.P143L 0.248 pfscan_Ig-like pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors NCR3LG1 HGNC ENSG00000188211 15 10 40.00 36 0 0.00 NCSTN 23385 genome.wustl.edu 37 1 160319399 160319399 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 160319399 160319399 G C SNP NCSTN ENST00000294785 human ensembl 70_37 +1 known missense c.375 p.L125F 0.340 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 82 17 17.17 61 0 0.00 NCSTN 23385 genome.wustl.edu 37 1 160322992 160322992 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 160322992 160322992 C T SNP NCSTN ENST00000294785 human ensembl 70_37 +1 known missense c.1144 p.P382S 1.000 pfam_Nicastrin pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 53 12 18.46 45 0 0.00 NCSTN 23385 genome.wustl.edu 37 1 160326680 160326680 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 160326680 160326680 G C SNP NCSTN ENST00000491390 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCSTN HGNC ENSG00000162736 24 6 20.00 17 0 0.00 NCSTN 23385 genome.wustl.edu 37 1 160326700 160326700 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 160326700 160326700 G T SNP NCSTN ENST00000469159 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCSTN HGNC ENSG00000162736 36 15 29.41 50 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2577797 2577797 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 2577797 2577797 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.232 p.E78Q 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 99 35 26.12 159 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2579017 2579017 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 2579017 2579017 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.568 p.D190H 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 68 15 18.07 63 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2585130 2585130 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 2585130 2585130 G A SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.598 p.E200K 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 46 15 24.59 49 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2608732 2608732 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 2608732 2608732 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1591 p.E531Q 1.000 superfamily_t-SNARE pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 35 8 18.60 47 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2616481 2616481 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 2616481 2616481 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1837 p.E613Q 1.000 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 31 4 11.43 58 0 0.00 NDC80 10403 genome.wustl.edu 37 18 2616517 2616517 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 2616517 2616517 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1873 p.E625Q 0.974 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 14 11 44.00 21 0 0.00 NDE1 54820 genome.wustl.edu 37 16 15788036 15788036 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 15788036 15788036 A G SNP NDE1 ENST00000396353 human ensembl 70_37 +1 known missense c.718 p.T240A 0.000 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 23 8 25.81 41 0 0.00 NDE1 54820 genome.wustl.edu 37 16 15790663 15790663 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 15790663 15790663 G C SNP NDE1 ENST00000396353 human ensembl 70_37 +1 known missense c.893 p.R298T 1.000 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 20 4 16.67 24 0 0.00 NDEL1 81565 genome.wustl.edu 37 17 8347562 8347562 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 8347562 8347562 C G SNP NDEL1 ENST00000583066 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors NDEL1 HGNC ENSG00000166579 50 6 10.71 69 0 0.00 NDEL1 81565 genome.wustl.edu 37 17 8349087 8349087 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 8349087 8349087 G A SNP NDEL1 ENST00000299734 human ensembl 70_37 +1 known missense c.145 p.A49T 1.000 NULL pfam_NUDE_C - no_errors NDEL1 HGNC ENSG00000166579 91 12 11.65 73 0 0.00 NDEL1 81565 genome.wustl.edu 37 17 8354172 8354172 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 8354172 8354172 C G SNP NDEL1 ENST00000299734 human ensembl 70_37 +1 known missense c.601 p.L201V 0.386 pfam_NUDE_C pfam_NUDE_C - no_errors NDEL1 HGNC ENSG00000166579 6 6 50.00 21 0 0.00 NDN 4692 genome.wustl.edu 37 15 23931620 23931620 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 23931620 23931620 G A SNP NDN ENST00000331837 human ensembl 70_37 -1 known missense c.745 p.R249C 0.995 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 43 31 41.33 45 0 0.00 NDN 4692 genome.wustl.edu 37 15 23931920 23931920 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 15 23931920 23931920 G A SNP NDN ENST00000331837 human ensembl 70_37 -1 known missense c.445 p.R149W 0.274 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 50 19 27.54 66 0 0.00 NDN 4692 genome.wustl.edu 37 15 23932065 23932065 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 23932065 23932065 C T SNP NDN ENST00000331837 human ensembl 70_37 -1 known silent c.300 p.Q100 1.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 13 5 27.78 21 0 0.00 NDNF 79625 genome.wustl.edu 37 4 121958175 121958175 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 121958175 121958175 G A SNP NDNF ENST00000379692 human ensembl 70_37 -1 known silent c.951 p.V317 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 73 17 18.89 52 0 0.00 NDNF 79625 genome.wustl.edu 37 4 121958454 121958454 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 121958454 121958454 G T SNP NDNF ENST00000379692 human ensembl 70_37 -1 known silent c.672 p.L224 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 22 10 31.25 39 0 0.00 NDNF 79625 genome.wustl.edu 37 4 121966894 121966894 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 121966894 121966894 C G SNP NDNF ENST00000379692 human ensembl 70_37 -1 known missense c.99 p.Q33H 1.000 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 42 14 25.00 54 0 0.00 NDP 4693 genome.wustl.edu 37 X 43809085 43809085 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 43809085 43809085 C A SNP NDP ENST00000378062 human ensembl 70_37 -1 known missense c.362 p.R121L 1.000 pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis - no_errors NDP HGNC ENSG00000124479 87 12 12.12 109 0 0.00 NDP-AS1 100873919 genome.wustl.edu 37 X 43809004 43809004 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 43809004 43809004 C G SNP NDP-AS1 ENST00000435093 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDP-AS1 HGNC ENSG00000236276 64 15 18.99 54 0 0.00 NDP-AS1 100873919 genome.wustl.edu 37 X 43820066 43820066 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 43820066 43820066 G A SNP NDP-AS1 ENST00000435093 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDP-AS1 HGNC ENSG00000236276 36 23 38.98 21 0 0.00 NDRG1 10397 genome.wustl.edu 37 8 134276799 134276799 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 134276799 134276799 C T SNP NDRG1 ENST00000323851 human ensembl 70_37 -1 known missense c.196 p.G66S 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 37 5 11.90 80 0 0.00 NDRG3 57446 genome.wustl.edu 37 20 35288785 35288785 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 35288785 35288785 G A SNP NDRG3 ENST00000349004 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 11 4 26.67 14 0 0.00 NDRG3 57446 genome.wustl.edu 37 20 35350135 35350135 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 35350135 35350135 C T SNP NDRG3 ENST00000349004 human ensembl 70_37 -1 known missense c.4 p.D2N 1.000 NULL pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 77 28 26.67 87 0 0.00 NDRG4 65009 genome.wustl.edu 37 16 58538089 58538089 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 58538089 58538089 C G SNP NDRG4 ENST00000394282 human ensembl 70_37 +1 known missense c.315 p.F105L 0.150 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 27 6 18.18 21 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75562434 75562434 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75562434 75562434 C T SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.2524 p.E842K 0.814 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 43 9 17.31 42 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75562497 75562497 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 75562497 75562497 C G SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.2461 p.E821Q 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 43 15 25.86 57 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75567715 75567715 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 75567715 75567715 G C SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known silent c.432 p.L144 0.821 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 41 8 16.33 99 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75567903 75567903 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 75567903 75567903 G A SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known nonsense c.244 p.R82* 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 36 12 25.00 72 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75568002 75568002 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 75568002 75568002 G A SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.145 p.P49S 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 22 3 12.00 30 0 0.00 NDST2 8509 genome.wustl.edu 37 10 75568597 75568598 + RNA INS - - A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 75568597 75568598 - A INS NDST2 ENST00000465929 human ensembl 70_37 -1 known rna NULL NULL 0.595:0.250 - - - no_errors NDST2 HGNC ENSG00000166507 50 9 15.25 30 0 0.00 NDST3 9348 genome.wustl.edu 37 4 118975531 118975531 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 118975531 118975531 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.466 p.E156Q 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 28 8 22.22 42 0 0.00 NDST3 9348 genome.wustl.edu 37 4 119026190 119026190 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 119026190 119026190 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.999 p.Q333H 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 29 22 43.14 55 0 0.00 NDST3 9348 genome.wustl.edu 37 4 119158287 119158287 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 119158287 119158287 C T SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2030 p.A677V 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 57 9 13.64 48 0 0.00 NDST3 9348 genome.wustl.edu 37 4 119161697 119161697 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 119161697 119161697 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2137 p.D713H 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 52 21 28.77 90 0 0.00 NDST3 9348 genome.wustl.edu 37 4 119163280 119163280 + Missense_Mutation SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 4 119163280 119163280 A G SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2375 p.H792R 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 40 7 14.89 39 0 0.00 NDST4 64579 genome.wustl.edu 37 4 115749027 115749027 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 115749027 115749027 C T SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.2564 p.R855K 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC ENSG00000138653 17 13 43.33 14 0 0.00 NDST4 64579 genome.wustl.edu 37 4 115891599 115891599 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 115891599 115891599 T C SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.1208 p.K403R 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC ENSG00000138653 59 38 39.18 88 0 0.00 NDST4 64579 genome.wustl.edu 37 4 115898403 115898403 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 115898403 115898403 G A SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.1006 p.R336C 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC ENSG00000138653 14 17 54.84 37 0 0.00 NDST4 64579 genome.wustl.edu 37 4 115998171 115998171 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 115998171 115998171 G A SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.22 p.R8W 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC ENSG00000138653 33 15 31.25 36 0 0.00 NDUFA1 4694 genome.wustl.edu 37 X 119007294 119007294 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 119007294 119007294 C A SNP NDUFA1 ENST00000371437 human ensembl 70_37 +1 known missense c.130 p.H44N 0.010 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 46 8 14.81 66 0 0.00 NDUFA11 126328 genome.wustl.edu 37 19 5894779 5894779 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5894779 5894779 C G SNP NDUFA11 ENST00000308961 human ensembl 70_37 -1 known missense c.400 p.E134Q 0.020 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors NDUFA11 HGNC ENSG00000174886 99 19 15.83 123 1 0.81 NDUFA5 4698 genome.wustl.edu 37 7 123182233 123182233 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 123182233 123182233 C - DEL NDUFA5 ENST00000355749 human ensembl 70_37 -1 known frame_shift_del c.291 p.W97fs 1.000 NULL pfam_ETC_CI_29_9 - no_errors NDUFA5 HGNC ENSG00000128609 69 17 19.77 103 0 0.00 NDUFA6 4700 genome.wustl.edu 37 22 42483070 42483070 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 42483070 42483070 G C SNP NDUFA6 ENST00000498737 human ensembl 70_37 -1 known silent c.327 p.V109 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFA6 HGNC ENSG00000184983 63 13 17.11 75 0 0.00 NDUFA6 4700 genome.wustl.edu 37 22 42483075 42483075 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 42483075 42483075 G A SNP NDUFA6 ENST00000498737 human ensembl 70_37 -1 known silent c.322 p.L108 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFA6 HGNC ENSG00000184983 320 44 12.02 363 0 0.00 NDUFA8 4702 genome.wustl.edu 37 9 124906636 124906636 + Nonsense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 124906636 124906636 G A SNP NDUFA8 ENST00000373768 human ensembl 70_37 -1 known nonsense c.403 p.R135* 1.000 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 47 19 28.79 58 0 0.00 NDUFA9 4704 genome.wustl.edu 37 12 4764034 4764034 + Missense_Mutation SNP A A C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 4764034 4764034 A C SNP NDUFA9 ENST00000266544 human ensembl 70_37 +1 known missense c.264 p.K88N 0.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 35 10 22.22 69 0 0.00 NDUFAF3 25915 genome.wustl.edu 37 3 49059635 49059635 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 49059635 49059635 C T SNP NDUFAF3 ENST00000326925 human ensembl 70_37 +1 known missense c.58 p.P20S 0.000 NULL pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors NDUFAF3 HGNC ENSG00000178057 13 7 35.00 17 0 0.00 NDUFAF4 29078 genome.wustl.edu 37 6 97345680 97345680 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 97345680 97345680 C G SNP NDUFAF4 ENST00000489477 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors NDUFAF4 HGNC ENSG00000123545 46 28 37.84 33 0 0.00 NDUFAF5 79133 genome.wustl.edu 37 20 13796890 13796890 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 13796890 13796890 C T SNP NDUFAF5 ENST00000479682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFAF5 HGNC ENSG00000101247 51 6 10.53 30 0 0.00 NDUFAF5 79133 genome.wustl.edu 37 20 13797029 13797029 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 13797029 13797029 G A SNP NDUFAF5 ENST00000479682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFAF5 HGNC ENSG00000101247 17 4 19.05 24 0 0.00 NDUFAF7 55471 genome.wustl.edu 37 2 37473261 37473261 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 37473261 37473261 C T SNP NDUFAF7 ENST00000002125 human ensembl 70_37 +1 known nonsense c.859 p.Q287* 0.003 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 33 21 38.89 45 0 0.00 NDUFB1 4707 genome.wustl.edu 37 14 92587952 92587952 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 92587952 92587952 C T SNP NDUFB1 ENST00000556555 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors NDUFB1 HGNC ENSG00000183648 40 11 21.57 71 0 0.00 NDUFB10 4716 genome.wustl.edu 37 16 2009706 2009706 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 2009706 2009706 G A SNP NDUFB10 ENST00000268668 human ensembl 70_37 +1 known missense c.81 p.M27I 0.000 NULL pfam_NADH_UbQ_OxRdtase_su10 - no_errors NDUFB10 HGNC ENSG00000140990 17 9 34.62 47 0 0.00 NDUFB10 4716 genome.wustl.edu 37 16 2011218 2011218 + Silent SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 16 2011218 2011218 G T SNP NDUFB10 ENST00000268668 human ensembl 70_37 +1 known silent c.195 p.V65 1.000 pfam_NADH_UbQ_OxRdtase_su10 pfam_NADH_UbQ_OxRdtase_su10 - no_errors NDUFB10 HGNC ENSG00000140990 22 3 12.00 25 0 0.00 NDUFB11 54539 genome.wustl.edu 37 X 47001822 47001822 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 47001822 47001822 C T SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.386 p.R129H 1.000 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 97 18 15.65 72 0 0.00 NDUFB11 54539 genome.wustl.edu 37 X 47002088 47002088 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 47002088 47002088 C G SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.263 p.R88P 0.941 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 83 54 39.42 86 0 0.00 NDUFB11 54539 genome.wustl.edu 37 X 47003939 47003939 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 47003939 47003939 C T SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.140 p.R47Q 0.889 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 37 29 43.94 50 0 0.00 NDUFB2 4708 genome.wustl.edu 37 7 140404746 140404746 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 140404746 140404746 C G SNP NDUFB2 ENST00000464564 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors NDUFB2 HGNC ENSG00000090266 64 12 15.79 72 0 0.00 NDUFB2-AS1 100134713 genome.wustl.edu 37 7 140395555 140395555 + RNA DEL T T - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 140395555 140395555 T - DEL NDUFB2-AS1 ENST00000465466 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NDUFB2-AS1 HGNC ENSG00000240889 26 5 16.13 22 0 0.00 NDUFB7 4713 genome.wustl.edu 37 19 14676998 14676998 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 14676998 14676998 C G SNP NDUFB7 ENST00000215565 human ensembl 70_37 -1 known missense c.361 p.E121Q 0.006 NULL pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 36 25 40.98 59 0 0.00 NDUFB7 4713 genome.wustl.edu 37 19 14677664 14677664 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 14677664 14677664 C T SNP NDUFB7 ENST00000215565 human ensembl 70_37 -1 known missense c.194 p.R65Q 0.381 pfam_NADH_UbQ_OxRdtase_B18_su pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 44 39 46.99 61 0 0.00 NDUFS1 4719 genome.wustl.edu 37 2 207017199 207017199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 207017199 207017199 C T SNP NDUFS1 ENST00000455934 human ensembl 70_37 -1 known missense c.139 p.E47K 1.000 superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 57 7 10.94 83 0 0.00 NDUFS2 4720 genome.wustl.edu 37 1 161179399 161179399 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161179399 161179399 G A SNP NDUFS2 ENST00000473321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFS2 HGNC ENSG00000158864 27 11 28.95 21 0 0.00 NDUFS2 4720 genome.wustl.edu 37 1 161180448 161180448 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161180448 161180448 G A SNP NDUFS2 ENST00000367993 human ensembl 70_37 +1 known missense c.934 p.D312N 0.999 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 55 19 25.68 105 0 0.00 NDUFS2 4720 genome.wustl.edu 37 1 161183875 161183875 + RNA DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 161183875 161183875 T - DEL NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors NDUFS2 HGNC ENSG00000158864 77 20 20.62 144 0 0.00 NDUFS2 4720 genome.wustl.edu 37 1 161184059 161184060 + RNA INS - - TGTG TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161184059 161184060 - TGTG INS NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.811:0.953 - - - no_errors NDUFS2 HGNC ENSG00000158864 20 6 23.08 39 0 0.00 NDUFS2 4720 genome.wustl.edu 37 1 161184091 161184091 + RNA SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 161184091 161184091 A G SNP NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFS2 HGNC ENSG00000158864 13 5 27.78 13 0 0.00 NDUFS3 4722 genome.wustl.edu 37 11 47602402 47602402 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 47602402 47602402 G A SNP NDUFS3 ENST00000263774 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC ENSG00000213619 83 11 11.70 80 0 0.00 NDUFS4 4724 genome.wustl.edu 37 5 52979020 52979020 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 52979020 52979020 G C SNP NDUFS4 ENST00000296684 human ensembl 70_37 +1 known missense c.497 p.W166S 1.000 pfam_NADH_UbQ_FeS_4_mit pfam_NADH_UbQ_FeS_4_mit - no_errors NDUFS4 HGNC ENSG00000164258 98 13 11.71 103 0 0.00 NDUFS6 4726 genome.wustl.edu 37 5 1802490 1802490 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1802490 1802490 T C SNP NDUFS6 ENST00000274137 human ensembl 70_37 +1 known splice_site c.186+2 e2+2 0.998 - - - no_errors NDUFS6 HGNC ENSG00000145494 20 15 42.86 59 0 0.00 NDUFV1 4723 genome.wustl.edu 37 11 67374475 67374475 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 67374475 67374475 G C SNP NDUFV1 ENST00000524876 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors NDUFV1 HGNC ENSG00000167792 12 33 73.33 18 0 0.00 NDUFV1 4723 genome.wustl.edu 37 11 67376092 67376092 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 67376092 67376092 G A SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known nonsense c.225 p.W75* 1.000 tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 48 14 22.58 94 0 0.00 NDUFV1 4723 genome.wustl.edu 37 11 67378032 67378032 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 67378032 67378032 G T SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known missense c.691 p.A231S 0.997 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 33 4 10.81 47 0 0.00 NDUFV1 4723 genome.wustl.edu 37 11 67378577 67378577 + Nonsense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67378577 67378577 C G SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known nonsense c.812 p.S271* 1.000 tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 62 28 31.11 87 0 0.00 NEAT1 283131 genome.wustl.edu 37 11 65199970 65199970 + RNA SNP T T C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 65199970 65199970 T C SNP NEAT1 ENST00000501122 human ensembl 70_37 +1 known rna NULL NULL 0.879 - - - no_errors NEAT1 HGNC ENSG00000245532 45 28 38.36 30 0 0.00 NEAT1 283131 genome.wustl.edu 37 11 65211894 65211894 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 65211894 65211894 C T SNP NEAT1 ENST00000501122 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors NEAT1 HGNC ENSG00000245532 42 8 16.00 36 0 0.00 NEB 4703 genome.wustl.edu 37 2 152348657 152348657 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152348657 152348657 C A SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.25012 p.E8338* 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 22 21 48.84 47 0 0.00 NEB 4703 genome.wustl.edu 37 2 152374864 152374864 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152374864 152374864 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22768 p.H7590N 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 55 26 32.10 93 0 0.00 NEB 4703 genome.wustl.edu 37 2 152375507 152375507 + Missense_Mutation SNP A A T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 152375507 152375507 A T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22667 p.V7556D 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 42 16 27.59 49 0 0.00 NEB 4703 genome.wustl.edu 37 2 152375533 152375533 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152375533 152375533 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22641 p.M7547I 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 28 17 37.78 35 0 0.00 NEB 4703 genome.wustl.edu 37 2 152375560 152375560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152375560 152375560 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22614 p.K7538N 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 24 17 41.46 35 0 0.00 NEB 4703 genome.wustl.edu 37 2 152394431 152394431 + Silent SNP A A G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 152394431 152394431 A G SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.21057 p.R7019 0.984 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 59 11 15.71 51 0 0.00 NEB 4703 genome.wustl.edu 37 2 152409245 152409245 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 152409245 152409245 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.19777 p.L6593I 0.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 32 5 13.51 74 0 0.00 NEB 4703 genome.wustl.edu 37 2 152419320 152419320 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 152419320 152419320 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.18696 p.L6232 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 30 16 34.78 56 0 0.00 NEB 4703 genome.wustl.edu 37 2 152422319 152422319 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 152422319 152422319 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.18172 p.D6058H 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 24 6 20.00 21 0 0.00 NEB 4703 genome.wustl.edu 37 2 152426701 152426701 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 152426701 152426701 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.17324 p.A5775D 0.001 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 58 7 10.77 51 0 0.00 NEB 4703 genome.wustl.edu 37 2 152432303 152432303 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 152432303 152432303 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.16919 p.R5640T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 45 13 22.41 59 0 0.00 NEB 4703 genome.wustl.edu 37 2 152436012 152436012 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 152436012 152436012 T G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.16544 p.K5515T 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 45 8 15.09 38 0 0.00 NEB 4703 genome.wustl.edu 37 2 152447960 152447960 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152447960 152447960 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.14836 p.Q4946E 0.001 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 167 22 11.64 136 1 0.73 NEB 4703 genome.wustl.edu 37 2 152472532 152472532 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 152472532 152472532 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11273 p.R3758T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 14 5 26.32 49 0 0.00 NEB 4703 genome.wustl.edu 37 2 152472557 152472557 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152472557 152472557 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11248 p.P3750A 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 38 19 33.33 31 0 0.00 NEB 4703 genome.wustl.edu 37 2 152473963 152473963 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152473963 152473963 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11096 p.W3699S 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 23 17 42.50 43 0 0.00 NEB 4703 genome.wustl.edu 37 2 152476025 152476025 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 152476025 152476025 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.10812 p.I3604 0.839 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 78 48 37.80 184 0 0.00 NEB 4703 genome.wustl.edu 37 2 152476075 152476075 + Nonsense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 152476075 152476075 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.10762 p.Q3588* 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 35 11 23.91 64 0 0.00 NEB 4703 genome.wustl.edu 37 2 152492755 152492755 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152492755 152492755 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.9088 p.D3030N 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 33 28 45.90 56 0 0.00 NEB 4703 genome.wustl.edu 37 2 152499129 152499129 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152499129 152499129 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.8332 p.P2778A 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 77 43 35.54 67 0 0.00 NEB 4703 genome.wustl.edu 37 2 152507262 152507262 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 152507262 152507262 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.7053 p.E2351D 0.997 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 64 14 17.95 87 0 0.00 NEB 4703 genome.wustl.edu 37 2 152518712 152518712 + Nonsense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152518712 152518712 A C SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.5907 p.Y1969* 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 28 18 39.13 67 0 0.00 NEB 4703 genome.wustl.edu 37 2 152518812 152518812 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 152518812 152518812 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.5807 p.G1936E 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 140 22 13.58 172 0 0.00 NEB 4703 genome.wustl.edu 37 2 152524371 152524371 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 152524371 152524371 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.4666 p.P1556T 0.122 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 27 4 12.90 32 0 0.00 NEB 4703 genome.wustl.edu 37 2 152544883 152544883 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152544883 152544883 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.2338 p.E780K 1.000 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 73 29 28.43 61 0 0.00 NEB 4703 genome.wustl.edu 37 2 152547324 152547324 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 152547324 152547324 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.2227 p.H743Y 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 36 24 40.00 48 0 0.00 NEB 4703 genome.wustl.edu 37 2 152580836 152580836 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 152580836 152580836 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.550 p.L184V 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 29 24 45.28 54 0 0.00 NEB 4703 genome.wustl.edu 37 2 152581994 152581994 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152581994 152581994 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.375 p.I125M 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 126 55 30.39 118 0 0.00 NEB 4703 genome.wustl.edu 37 2 152586147 152586147 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 152586147 152586147 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.60 p.Y20 0.150 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 129 62 32.12 145 0 0.00 NEB 4703 genome.wustl.edu 37 2 152586147 152586147 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 152586147 152586147 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.60 p.Y20 0.150 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 30 22 42.31 34 0 0.00 NEBL 10529 genome.wustl.edu 37 10 21097533 21097533 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 21097533 21097533 G A SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.2667 p.F889 0.979 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 8 7 46.67 29 0 0.00 NEBL 10529 genome.wustl.edu 37 10 21098823 21098823 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 21098823 21098823 G A SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.2523 p.L841 0.993 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 7 3 30.00 27 0 0.00 NEBL 10529 genome.wustl.edu 37 10 21115385 21115385 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 21115385 21115385 A G SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.1860 p.N620 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 18 4 18.18 24 0 0.00 NEBL 10529 genome.wustl.edu 37 10 21141488 21141488 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 21141488 21141488 C T SNP NEBL ENST00000377122 human ensembl 70_37 -1 known missense c.994 p.V332I 0.197 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 58 18 23.68 102 0 0.00 NECAB1 64168 genome.wustl.edu 37 8 91813934 91813934 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 91813934 91813934 G C SNP NECAB1 ENST00000417640 human ensembl 70_37 +1 known missense c.115 p.D39H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 61 19 23.75 48 0 0.00 NECAB1 64168 genome.wustl.edu 37 8 91962037 91962037 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 91962037 91962037 T G SNP NECAB1 ENST00000417640 human ensembl 70_37 +1 known missense c.863 p.I288S 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 34 12 26.09 52 0 0.00 NECAB2 54550 genome.wustl.edu 37 16 84034404 84034404 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 84034404 84034404 G C SNP NECAB2 ENST00000305202 human ensembl 70_37 +1 known missense c.1038 p.K346N 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB2 HGNC ENSG00000103154 21 7 25.00 59 0 0.00 NECAP2 55707 genome.wustl.edu 37 1 16767245 16767245 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 16767245 16767245 C T SNP NECAP2 ENST00000486390 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NECAP2 HGNC ENSG00000157191 58 12 17.14 54 0 0.00 NEDD1 121441 genome.wustl.edu 37 12 97330437 97330437 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 97330437 97330437 C T SNP NEDD1 ENST00000557644 human ensembl 70_37 +1 known silent c.789 p.F263 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 24 4 14.29 32 0 0.00 NEDD4 4734 genome.wustl.edu 37 15 56130719 56130719 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56130719 56130719 T G SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.3372 p.E1124D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 33 6 15.38 75 0 0.00 NEDD4 4734 genome.wustl.edu 37 15 56152670 56152670 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 56152670 56152670 C T SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.2152 p.E718K 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 52 29 35.80 83 0 0.00 NEDD4 4734 genome.wustl.edu 37 15 56155208 56155208 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 56155208 56155208 G C SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.1834 p.L612V 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 95 48 33.57 87 0 0.00 NEDD4L 23327 genome.wustl.edu 37 18 55981815 55981815 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 55981815 55981815 G A SNP NEDD4L ENST00000592601 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NEDD4L HGNC ENSG00000049759 26 45 63.38 32 0 0.00 NEDD4L 23327 genome.wustl.edu 37 18 56024425 56024425 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 56024425 56024425 G A SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known splice_site c.1709-1 e19-1 1.000 - - - no_errors NEDD4L HGNC ENSG00000049759 24 13 35.14 45 0 0.00 NEDD4L 23327 genome.wustl.edu 37 18 56033348 56033348 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 56033348 56033348 G C SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known missense c.1951 p.E651Q 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 61 17 21.79 66 0 0.00 NEDD4L 23327 genome.wustl.edu 37 18 56034976 56034976 + Splice_Site SNP A A C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 18 56034976 56034976 A C SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known splice_site c.2064-2 e22-2 1.000 - - - no_errors NEDD4L HGNC ENSG00000049759 46 24 34.29 49 0 0.00 NEDD9 4739 genome.wustl.edu 37 6 11213753 11213753 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 11213753 11213753 G A SNP NEDD9 ENST00000379446 human ensembl 70_37 -1 known missense c.220 p.H74Y 0.882 superfamily_SH3_domain pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 38 14 26.92 48 0 0.00 NEFH 4744 genome.wustl.edu 37 22 29879471 29879471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 29879471 29879471 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.991 p.E331K 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 24 9 27.27 31 0 0.00 NEFH 4744 genome.wustl.edu 37 22 29879471 29879471 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 29879471 29879471 G C SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 35 17 32.69 38 0 0.00 NEFH 4744 genome.wustl.edu 37 22 29879485 29879485 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 29879485 29879485 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known silent c.1005 p.L335 0.993 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 44 8 15.38 28 0 0.00 NEFH 4744 genome.wustl.edu 37 22 29886321 29886321 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 29886321 29886321 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.2692 p.E898K 0.585 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 20 6 23.08 38 0 0.00 NEFL 4747 genome.wustl.edu 37 8 24809849 24809849 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 24809849 24809849 T G SNP NEFL ENST00000221169 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors NEFL HGNC ENSG00000104725 8 9 52.94 41 0 0.00 NEFM 4741 genome.wustl.edu 37 8 24771768 24771768 + Silent SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 24771768 24771768 C A SNP NEFM ENST00000221166 human ensembl 70_37 +1 known silent c.462 p.I154 1.000 pfam_F pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 34 11 24.44 41 0 0.00 NEFM 4741 genome.wustl.edu 37 8 24774881 24774881 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 24774881 24774881 G C SNP NEFM ENST00000221166 human ensembl 70_37 +1 known missense c.1513 p.E505Q 0.130 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 14 5 26.32 18 0 0.00 NEFM 4741 genome.wustl.edu 37 8 24775212 24775212 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 24775212 24775212 C A SNP NEFM ENST00000221166 human ensembl 70_37 +1 known missense c.1844 p.S615Y 0.497 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 11 3 21.43 38 0 0.00 NEGR1 257194 genome.wustl.edu 37 1 72400779 72400779 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 72400779 72400779 A G SNP NEGR1 ENST00000357731 human ensembl 70_37 -1 known missense c.392 p.V131A 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NEGR1 HGNC ENSG00000172260 66 21 24.14 45 0 0.00 NEGR1 257194 genome.wustl.edu 37 1 72400957 72400957 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 72400957 72400957 G A SNP NEGR1 ENST00000357731 human ensembl 70_37 -1 known silent c.214 p.L72 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NEGR1 HGNC ENSG00000172260 30 19 38.78 122 0 0.00 NEIL1 79661 genome.wustl.edu 37 15 75641330 75641330 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 75641330 75641330 G A SNP NEIL1 ENST00000355059 human ensembl 70_37 +1 known silent c.84 p.E28 1.000 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 46 36 43.90 63 0 0.00 NEIL1 79661 genome.wustl.edu 37 15 75644551 75644551 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 75644551 75644551 G A SNP NEIL1 ENST00000355059 human ensembl 70_37 +1 known silent c.534 p.L178 0.734 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 31 12 27.91 84 0 0.00 NEIL3 55247 genome.wustl.edu 37 4 178274470 178274470 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 178274470 178274470 C A SNP NEIL3 ENST00000264596 human ensembl 70_37 +1 known missense c.1048 p.L350I 0.000 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 60 34 36.17 108 0 0.00 NEIL3 55247 genome.wustl.edu 37 4 178274720 178274720 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 178274720 178274720 C T SNP NEIL3 ENST00000264596 human ensembl 70_37 +1 known missense c.1298 p.S433F 0.899 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 13 2 13.33 30 0 0.00 NEK1 4750 genome.wustl.edu 37 4 170398404 170398404 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 170398404 170398404 G C SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known missense c.2305 p.H769D 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 87 46 34.59 78 0 0.00 NEK1 4750 genome.wustl.edu 37 4 170428890 170428890 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 170428890 170428890 C T SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known silent c.1887 p.R629 0.969 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 22 13 37.14 45 0 0.00 NEK1 4750 genome.wustl.edu 37 4 170510647 170510647 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 170510647 170510647 C T SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known missense c.415 p.D139N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 31 7 18.42 48 0 0.00 NEK10 152110 genome.wustl.edu 37 3 27297822 27297822 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 27297822 27297822 T G SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known missense c.2055 p.K685N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 13 4 23.53 30 0 0.00 NEK10 152110 genome.wustl.edu 37 3 27343240 27343240 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27343240 27343240 G C SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known nonsense c.1115 p.S372* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 25 14 35.90 41 0 0.00 NEK10 152110 genome.wustl.edu 37 3 27387639 27387639 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 27387639 27387639 A G SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known silent c.201 p.G67 0.440 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 21 14 40.00 40 0 0.00 NEK2 4751 genome.wustl.edu 37 1 211847840 211847840 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 211847840 211847840 C G SNP NEK2 ENST00000366999 human ensembl 70_37 -1 known missense c.112 p.E38Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK2 HGNC ENSG00000117650 23 42 64.62 51 0 0.00 NEK3 4752 genome.wustl.edu 37 13 52730376 52730376 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 52730376 52730376 C G SNP NEK3 ENST00000452082 human ensembl 70_37 -1 known missense c.14 p.R5T 0.005 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 26 6 18.18 43 0 0.00 NEK4 6787 genome.wustl.edu 37 3 52775485 52775485 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 52775485 52775485 C T SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.2035 p.D679N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 26 9 25.71 32 0 0.00 NEK4 6787 genome.wustl.edu 37 3 52785972 52785972 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52785972 52785972 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.1344 p.I448M 0.533 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 176 53 23.14 261 0 0.00 NEK4 6787 genome.wustl.edu 37 3 52799951 52799951 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52799951 52799951 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.618 p.F206L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 19 10 34.48 32 0 0.00 NEK4 6787 genome.wustl.edu 37 3 52799977 52799977 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 52799977 52799977 C T SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.592 p.E198K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 27 4 12.90 39 0 0.00 NEK4 6787 genome.wustl.edu 37 3 52800349 52800349 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52800349 52800349 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.403 p.Q135E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 76 18 19.15 95 0 0.00 NEK5 341676 genome.wustl.edu 37 13 52657447 52657447 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52657447 52657447 C G SNP NEK5 ENST00000355568 human ensembl 70_37 -1 known missense c.1521 p.K507N 0.854 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 101 28 21.71 130 0 0.00 NEK5 341676 genome.wustl.edu 37 13 52667254 52667254 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52667254 52667254 G A SNP NEK5 ENST00000355568 human ensembl 70_37 -1 known nonsense c.1144 p.Q382* 0.105 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 98 29 22.83 176 0 0.00 NEK6 10783 genome.wustl.edu 37 9 127054795 127054795 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 127054795 127054795 C G SNP NEK6 ENST00000539416 human ensembl 70_37 +1 known missense c.23 p.S8C 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 40 11 21.57 53 0 0.00 NEK6 10783 genome.wustl.edu 37 9 127076209 127076209 + Missense_Mutation SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 127076209 127076209 A T SNP NEK6 ENST00000373600 human ensembl 70_37 +1 known missense c.341 p.E114V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 20 14 41.18 33 0 0.00 NEK6 10783 genome.wustl.edu 37 9 127076209 127076209 + Missense_Mutation SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 127076209 127076209 A T SNP NEK6 ENST00000373600 human ensembl 70_37 +1 known missense c.341 p.E114V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 23 4 14.81 50 0 0.00 NEK7 140609 genome.wustl.edu 37 1 198231733 198231733 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 198231733 198231733 G T SNP NEK7 ENST00000367385 human ensembl 70_37 +1 known missense c.227 p.R76L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 15 4 21.05 81 0 0.00 NEK8 284086 genome.wustl.edu 37 17 27061104 27061104 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 27061104 27061104 G A SNP NEK8 ENST00000268766 human ensembl 70_37 +1 known missense c.151 p.E51K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 76 39 33.62 131 0 0.00 NEK8 284086 genome.wustl.edu 37 17 27064323 27064323 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27064323 27064323 G C SNP NEK8 ENST00000268766 human ensembl 70_37 +1 known splice_site c.619-1 e5-1 1.000 - - - no_errors NEK8 HGNC ENSG00000160602 20 24 54.55 30 0 0.00 NEK9 91754 genome.wustl.edu 37 14 75567840 75567840 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 75567840 75567840 C T SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known silent c.1857 p.L619 0.999 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 38 10 20.83 44 0 0.00 NEK9 91754 genome.wustl.edu 37 14 75573250 75573250 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75573250 75573250 G A SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known silent c.1483 p.L495 0.997 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 17 8 32.00 41 0 0.00 NEK9 91754 genome.wustl.edu 37 14 75590851 75590851 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 75590851 75590851 C T SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known missense c.295 p.E99K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 63 11 14.86 41 0 0.00 NSMF 26012 genome.wustl.edu 37 9 140347279 140347279 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140347279 140347279 G A SNP NELF ENST00000371482 human ensembl 70_37 -1 known missense c.32 p.S11F 0.000 NULL NULL - no_errors NELF HGNC ENSG00000165802 47 17 26.56 78 0 0.00 NSMF 26012 genome.wustl.edu 37 9 140347293 140347293 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140347293 140347293 C G SNP NELF ENST00000371482 human ensembl 70_37 -1 known silent c.18 p.L6 0.020 NULL NULL - no_errors NELF HGNC ENSG00000165802 23 11 32.35 37 0 0.00 NSMF 26012 genome.wustl.edu 37 9 140348844 140348844 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 140348844 140348844 C G SNP NELF ENST00000371475 human ensembl 70_37 -1 known missense c.831 p.Q277H 1.000 NULL NULL - no_errors NELF HGNC ENSG00000165802 86 22 20.37 133 0 0.00 NSMF 26012 genome.wustl.edu 37 9 140349726 140349726 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 140349726 140349726 C T SNP NELF ENST00000371475 human ensembl 70_37 -1 known silent c.744 p.R248 1.000 NULL NULL - no_errors NELF HGNC ENSG00000165802 81 31 27.68 120 0 0.00 NELL1 4745 genome.wustl.edu 37 11 20691274 20691274 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 20691274 20691274 C T SNP NELL1 ENST00000357134 human ensembl 70_37 +1 known missense c.5 p.P2L 0.356 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 65 50 43.48 109 0 0.00 NELL1 4745 genome.wustl.edu 37 11 20968933 20968933 + Nonsense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 20968933 20968933 G T SNP NELL1 ENST00000357134 human ensembl 70_37 +1 known nonsense c.1123 p.E375* 0.986 smart_VWF_C pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 14 12 46.15 33 0 0.00 NELL2 4753 genome.wustl.edu 37 12 44913800 44913800 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 44913800 44913800 G A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known silent c.2538 p.L846 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 27 17 38.64 48 0 0.00 NELL2 4753 genome.wustl.edu 37 12 44915918 44915918 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 44915918 44915918 C T SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known silent c.2190 p.E730 1.000 smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 52 14 21.21 47 0 0.00 NELL2 4753 genome.wustl.edu 37 12 45000955 45000955 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 45000955 45000955 T A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known missense c.1810 p.T604S 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 10 11 52.38 54 0 0.00 NELL2 4753 genome.wustl.edu 37 12 45105117 45105117 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 45105117 45105117 G A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known missense c.1297 p.H433Y 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 44 9 16.98 41 0 0.00 NELL2 4753 genome.wustl.edu 37 12 45209912 45209912 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 45209912 45209912 G A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known silent c.342 p.P114 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 51 10 16.39 56 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50255978 50255978 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50255978 50255978 C G SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2781 p.Q927H 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 67 11 14.10 69 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50256237 50256237 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50256237 50256237 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2674 p.E892K 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 48 17 26.15 60 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50256283 50256283 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50256283 50256283 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2628 p.M876I 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 35 10 21.28 43 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50263033 50263033 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 50263033 50263033 G A SNP NEMF ENST00000556925 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NEMF HGNC ENSG00000165525 45 67 59.82 76 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50269245 50269245 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 50269245 50269245 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2021 p.R674K 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 46 18 28.12 54 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50287076 50287076 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 50287076 50287076 C T SNP NEMF ENST00000555878 human ensembl 70_37 -1 known rna NULL NULL 0.296 - - - no_errors NEMF HGNC ENSG00000165525 19 4 17.39 25 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50287124 50287124 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50287124 50287124 C G SNP NEMF ENST00000555878 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors NEMF HGNC ENSG00000165525 27 25 48.08 22 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50312863 50312863 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50312863 50312863 C G SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.352 p.D118H 1.000 pfam_Fibro-bd_N pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 22 14 38.89 31 0 0.00 NEMF 9147 genome.wustl.edu 37 14 50312951 50312951 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50312951 50312951 G C SNP NEMF ENST00000298310 human ensembl 70_37 -1 known silent c.264 p.V88 1.000 pfam_Fibro-bd_N pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 46 16 25.81 44 0 0.00 NENF 29937 genome.wustl.edu 37 1 212617779 212617779 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 212617779 212617779 G A SNP NENF ENST00000366988 human ensembl 70_37 +1 known missense c.337 p.D113N 1.000 pfam_Cyt_B5,superfamily_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors NENF HGNC ENSG00000117691 50 26 34.21 83 0 0.00 NENF 29937 genome.wustl.edu 37 1 212619333 212619333 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 212619333 212619333 C T SNP NENF ENST00000366988 human ensembl 70_37 +1 known silent c.504 p.I168 0.994 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors NENF HGNC ENSG00000117691 23 5 17.24 49 0 0.00 NEO1 4756 genome.wustl.edu 37 15 73408941 73408941 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 73408941 73408941 C T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.191 p.S64L 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 15 4 21.05 13 0 0.00 NEO1 4756 genome.wustl.edu 37 15 73409150 73409150 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 73409150 73409150 G A SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.400 p.E134K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 19 10 34.48 36 0 0.00 NEO1 4756 genome.wustl.edu 37 15 73552728 73552728 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 73552728 73552728 G T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.2320 p.G774C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 30 4 11.76 42 0 0.00 NEO1 4756 genome.wustl.edu 37 15 73562772 73562772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 73562772 73562772 C T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.2834 p.A945V 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 60 11 15.49 80 0 0.00 NES 10763 genome.wustl.edu 37 1 156640544 156640544 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156640544 156640544 C G SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.3436 p.E1146Q 0.415 NULL pfam_F - no_errors NES HGNC ENSG00000132688 41 19 31.67 73 0 0.00 NES 10763 genome.wustl.edu 37 1 156641574 156641574 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 156641574 156641574 C A SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.2406 p.E802D 0.920 NULL pfam_F - no_errors NES HGNC ENSG00000132688 19 3 13.64 32 0 0.00 NES 10763 genome.wustl.edu 37 1 156642887 156642887 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156642887 156642887 C G SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.1093 p.E365Q 0.001 NULL pfam_F - no_errors NES HGNC ENSG00000132688 19 21 52.50 34 0 0.00 NET1 10276 genome.wustl.edu 37 10 5493809 5493809 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 10 5493809 5493809 G C SNP NET1 ENST00000355029 human ensembl 70_37 +1 known missense c.272 p.R91T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 28 4 12.12 31 0 0.00 NET1 10276 genome.wustl.edu 37 10 5494406 5494406 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 5494406 5494406 G C SNP NET1 ENST00000355029 human ensembl 70_37 +1 known missense c.449 p.R150T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 25 17 40.48 18 0 0.00 NETO1 81832 genome.wustl.edu 37 18 70417642 70417642 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 70417642 70417642 C G SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.1196 p.R399T 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 25 9 26.47 56 0 0.00 NETO1 81832 genome.wustl.edu 37 18 70417733 70417733 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 70417733 70417733 G A SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.1105 p.R369C 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 92 40 30.30 155 0 0.00 NETO1 81832 genome.wustl.edu 37 18 70461384 70461384 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 70461384 70461384 T C SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.607 p.K203E 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 24 6 20.00 67 0 0.00 NETO1 81832 genome.wustl.edu 37 18 70526220 70526220 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 70526220 70526220 G A SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known nonsense c.310 p.R104* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 28 14 33.33 67 0 0.00 NEU1 4758 genome.wustl.edu 37 6 31827564 31827564 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 31827564 31827564 C T SNP NEU1 ENST00000375631 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU1 HGNC ENSG00000204386 22 12 34.29 24 0 0.00 NEU1 4758 genome.wustl.edu 37 6 31830436 31830436 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31830436 31830436 G C SNP NEU1 ENST00000375631 human ensembl 70_37 -1 known missense c.118 p.L40V 0.003 NULL superfamily_Neuraminidase - no_errors NEU1 HGNC ENSG00000204386 35 14 28.57 49 0 0.00 NEU2 4759 genome.wustl.edu 37 2 233899464 233899464 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 233899464 233899464 C T SNP NEU2 ENST00000233840 human ensembl 70_37 +1 known silent c.840 p.P280 0.825 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU2 HGNC ENSG00000115488 2 20 90.91 20 0 0.00 NEU2 4759 genome.wustl.edu 37 2 233899464 233899464 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 233899464 233899464 C T SNP NEU2 ENST00000233840 human ensembl 70_37 +1 known silent c.840 p.P280 0.825 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU2 HGNC ENSG00000115488 9 16 64.00 44 0 0.00 NEURL 9148 genome.wustl.edu 37 10 105330768 105330768 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 105330768 105330768 C T SNP NEURL ENST00000369780 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 20 10 33.33 25 0 0.00 NEURL 9148 genome.wustl.edu 37 10 105344981 105344981 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105344981 105344981 C T SNP NEURL ENST00000369780 human ensembl 70_37 +1 known silent c.1338 p.L446 0.926 pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 16 17 51.52 26 0 0.00 NEURL2 140825 genome.wustl.edu 37 20 44517472 44517472 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 44517472 44517472 C T SNP NEURL2 ENST00000372518 human ensembl 70_37 -1 known silent c.783 p.R261 0.988 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 60 14 18.92 45 0 0.00 NEURL3 93082 genome.wustl.edu 37 2 97166533 97166533 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 97166533 97166533 G A SNP NEURL3 ENST00000310865 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NEURL3 HGNC ENSG00000163121 7 7 50.00 32 0 0.00 NEURL4 84461 genome.wustl.edu 37 17 7227237 7227237 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 7227237 7227237 G T SNP NEURL4 ENST00000399464 human ensembl 70_37 -1 known missense c.2157 p.F719L 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 31 7 18.42 24 0 0.00 NEURL4 84461 genome.wustl.edu 37 17 7230490 7230490 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 7230490 7230490 G A SNP NEURL4 ENST00000399464 human ensembl 70_37 -1 known missense c.787 p.H263Y 0.999 NULL pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 18 12 40.00 21 0 0.00 NEURL4 84461 genome.wustl.edu 37 17 7230490 7230490 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 7230490 7230490 G A SNP NEURL4 ENST00000399464 human ensembl 70_37 -1 known missense c.787 p.H263Y 0.999 NULL pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 26 20 43.48 26 0 0.00 NEUROD1 4760 genome.wustl.edu 37 2 182542884 182542884 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 182542884 182542884 T C SNP NEUROD1 ENST00000295108 human ensembl 70_37 -1 known missense c.704 p.D235G 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 50 13 20.63 72 0 0.00 NEUROD1 4760 genome.wustl.edu 37 2 182543231 182543231 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 2 182543231 182543231 C T SNP NEUROD1 ENST00000295108 human ensembl 70_37 -1 known silent c.357 p.A119 0.082 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 56 21 27.27 58 0 0.00 NEUROD4 58158 genome.wustl.edu 37 12 55420392 55420392 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 55420392 55420392 G C SNP NEUROD4 ENST00000242994 human ensembl 70_37 +1 known missense c.169 p.E57Q 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 17 6 26.09 21 0 0.00 NEUROD4 58158 genome.wustl.edu 37 12 55421139 55421139 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 55421139 55421139 G A SNP NEUROD4 ENST00000242994 human ensembl 70_37 +1 known missense c.916 p.D306N 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 513 76 12.90 412 1 0.24 NEUROG2 63973 genome.wustl.edu 37 4 113436006 113436006 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 113436006 113436006 G T SNP NEUROG2 ENST00000313341 human ensembl 70_37 -1 known nonsense c.626 p.S209* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 26 17 39.53 48 0 0.00 NEUROG2 63973 genome.wustl.edu 37 4 113436223 113436223 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 113436223 113436223 C A SNP NEUROG2 ENST00000313341 human ensembl 70_37 -1 known nonsense c.409 p.E137* 0.995 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 41 6 12.77 35 0 0.00 NEXN 91624 genome.wustl.edu 37 1 78408216 78408216 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 78408216 78408216 C G SNP NEXN ENST00000334785 human ensembl 70_37 +1 known missense c.1730 p.T577S 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors NEXN HGNC ENSG00000162614 18 3 14.29 25 0 0.00 NF1 4763 genome.wustl.edu 37 17 29509567 29509567 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29509567 29509567 G T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.772 p.E258* 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 33 15 31.25 76 0 0.00 NF1 4763 genome.wustl.edu 37 17 29527570 29527570 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29527570 29527570 C G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.1019 p.S340C 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 53 39 42.39 98 0 0.00 NF1 4763 genome.wustl.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 29528441 29528441 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.1198 p.Q400* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 89 57 39.04 230 0 0.00 NF1 4763 genome.wustl.edu 37 17 29546122 29546122 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29546122 29546122 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.1627 p.Q543* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 18 14 43.75 19 0 0.00 NF1 4763 genome.wustl.edu 37 17 29553644 29553644 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29553644 29553644 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known silent c.2193 p.L731 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 168 85 33.46 239 0 0.00 NF1 4763 genome.wustl.edu 37 17 29554588 29554588 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29554588 29554588 C G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.2373 p.I791M 0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 83 30 26.55 87 0 0.00 NF1 4763 genome.wustl.edu 37 17 29556206 29556206 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29556206 29556206 C A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.2573 p.S858Y 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 59 21 26.25 96 0 0.00 NF1 4763 genome.wustl.edu 37 17 29556485 29556485 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29556485 29556485 T G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known splice_site c.2850+2 e21+2 1.000 - - - no_errors NF1 HGNC ENSG00000196712 33 5 13.16 43 0 0.00 NF1 4763 genome.wustl.edu 37 17 29557345 29557345 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 29557345 29557345 G A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.3058 p.E1020K 0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 62 28 31.11 92 0 0.00 NF1 4763 genome.wustl.edu 37 17 29559809 29559809 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 29559809 29559809 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.3406 p.R1136W 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 52 56 51.85 59 0 0.00 NF1 4763 genome.wustl.edu 37 17 29585383 29585383 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 29585383 29585383 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.4195 p.Q1399* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 88 27 23.08 88 0 0.00 NF1 4763 genome.wustl.edu 37 17 29652871 29652871 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29652871 29652871 G T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known silent c.4869 p.L1623 1.000 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 17 18 51.43 26 0 0.00 NF1 4763 genome.wustl.edu 37 17 29661936 29661936 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 29661936 29661936 G A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.5893 p.D1965N 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 19 6 24.00 41 0 0.00 NF1 4763 genome.wustl.edu 37 17 29677227 29677227 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29677227 29677227 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.7348 p.R2450* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 49 6 10.91 75 0 0.00 NF1P4 100419029 genome.wustl.edu 37 14 19488836 19488836 + Splice_Site SNP A A G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 14 19488836 19488836 A G SNP NF1P4 ENST00000548793 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors NF1P4 HGNC ENSG00000257990 27 3 10.00 57 0 0.00 NF1P4 100419029 genome.wustl.edu 37 14 19488869 19488869 + RNA SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 19488869 19488869 G C SNP NF1P4 ENST00000548793 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NF1P4 HGNC ENSG00000257990 2 6 75.00 11 0 0.00 NF2 4771 genome.wustl.edu 37 22 30000004 30000004 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 22 30000004 30000004 C T SNP NF2 ENST00000338641 human ensembl 70_37 +1 known missense c.17 p.A6V 1.000 NULL pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC ENSG00000186575 12 21 63.64 52 0 0.00 NF2 4771 genome.wustl.edu 37 22 30070877 30070877 + Nonsense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 30070877 30070877 G T SNP NF2 ENST00000338641 human ensembl 70_37 +1 known nonsense c.1393 p.E465* 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC ENSG00000186575 25 6 19.35 28 0 0.00 NF2 4771 genome.wustl.edu 37 22 30077525 30077525 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 30077525 30077525 C G SNP NF2 ENST00000338641 human ensembl 70_37 +1 known missense c.1672 p.L558V 0.108 pirsf_ERM,pfam_ERM_C,superfamily_Moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC ENSG00000186575 161 40 19.80 221 0 0.00 NFAM1 150372 genome.wustl.edu 37 22 42807594 42807594 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 42807594 42807594 C T SNP NFAM1 ENST00000329021 human ensembl 70_37 -1 known silent c.270 p.Q90 0.001 NULL pfscan_Phos_immunorcpt_sig_ITAM - no_errors NFAM1 HGNC ENSG00000235568 96 67 40.85 177 1 0.56 NFASC 23114 genome.wustl.edu 37 1 204937953 204937953 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204937953 204937953 G T SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.846 p.K282N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 14 9 39.13 31 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204939816 204939816 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 204939816 204939816 G A SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.1076 p.R359Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 78 13 14.29 105 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204970376 204970376 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 204970376 204970376 T C SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.3419 p.F1140S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 88 53 37.59 159 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204985648 204985648 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204985648 204985648 C A SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.4025 p.A1342D 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 22 14 38.89 70 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204985781 204985781 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 204985781 204985781 G A SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NFASC HGNC ENSG00000163531 50 8 13.79 48 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204985893 204985893 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 204985893 204985893 C T SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors NFASC HGNC ENSG00000163531 9 6 37.50 12 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204987179 204987179 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204987179 204987179 T G SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 13 10 43.48 18 0 0.00 NFASC 23114 genome.wustl.edu 37 1 204991893 204991893 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204991893 204991893 A C SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors NFASC HGNC ENSG00000163531 30 16 34.78 71 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69681236 69681236 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 69681236 69681236 G C SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.559 p.E187Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 44 17 27.87 51 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69681372 69681372 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69681372 69681372 G A SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.695 p.R232Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 58 15 20.55 38 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69724847 69724847 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 69724847 69724847 G A SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.1779 p.M593I 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 50 28 35.90 67 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69727754 69727754 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 69727754 69727754 C G SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known silent c.4026 p.P1342 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 52 38 42.22 116 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69727884 69727884 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 69727884 69727884 C T SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known nonsense c.4156 p.Q1386* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 61 18 22.78 44 0 0.00 NFAT5 10725 genome.wustl.edu 37 16 69727915 69727915 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 69727915 69727915 C T SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.4187 p.P1396L 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 54 17 23.94 36 0 0.00 NFATC1 4772 genome.wustl.edu 37 18 77170429 77170429 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 77170429 77170429 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.154 p.V52I 0.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 18 7 28.00 29 0 0.00 NFATC1 4772 genome.wustl.edu 37 18 77170535 77170535 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 77170535 77170535 C T SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.260 p.S87L 0.008 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 44 17 27.87 60 0 0.00 NFATC1 4772 genome.wustl.edu 37 18 77170762 77170762 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 77170762 77170762 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.487 p.E163K 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 9 24 72.73 62 0 0.00 NFATC1 4772 genome.wustl.edu 37 18 77208811 77208811 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 77208811 77208811 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known silent c.1416 p.L472 0.995 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 34 20 37.04 59 0 0.00 NFATC1 4772 genome.wustl.edu 37 18 77208903 77208903 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 77208903 77208903 C T SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.1508 p.S503F 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 103 25 19.53 103 1 0.96 NFATC1 4772 genome.wustl.edu 37 18 77253552 77253552 + RNA SNP G G C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 18 77253552 77253552 G C SNP NFATC1 ENST00000590861 human ensembl 70_37 +1 putative rna NULL NULL 0.988 - - - no_errors NFATC1 HGNC ENSG00000131196 83 36 30.25 22 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50092153 50092153 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 50092153 50092153 G T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.1377 p.F459L 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 51 7 12.07 96 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50133469 50133469 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 50133469 50133469 G C SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.1186 p.P396A 0.998 pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 36 21 36.84 63 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50139763 50139763 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 20 50139763 50139763 G A SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known silent c.1017 p.A339 0.998 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 60 28 31.82 99 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50139798 50139798 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 50139798 50139798 C T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.982 p.D328N 0.992 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 100 28 21.88 71 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50158912 50158912 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 50158912 50158912 C T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.127 p.E43K 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 71 13 15.48 99 0 0.00 NFATC2 4773 genome.wustl.edu 37 20 50179163 50179163 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 50179163 50179163 C T SNP NFATC2 ENST00000414705 human ensembl 70_37 -1 known silent c.6 p.Q2 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 19 7 26.92 14 0 0.00 NFATC3 4775 genome.wustl.edu 37 16 68156798 68156798 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 68156798 68156798 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.1012 p.L338V 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 129 42 24.56 183 0 0.00 NFATC3 4775 genome.wustl.edu 37 16 68160513 68160513 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 68160513 68160513 G T SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.1401 p.K467N 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 54 30 35.71 122 0 0.00 NFATC3 4775 genome.wustl.edu 37 16 68224713 68224713 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 68224713 68224713 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known nonsense c.2141 p.S714* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 31 7 18.42 30 0 0.00 NFATC3 4775 genome.wustl.edu 37 16 68224764 68224764 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68224764 68224764 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.2192 p.S731C 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 59 39 39.80 90 0 0.00 NFATC3 4775 genome.wustl.edu 37 16 68248234 68248234 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 68248234 68248234 C G SNP NFATC3 ENST00000329524 human ensembl 70_37 +1 known missense c.3109 p.Q1037E 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 73 37 33.64 91 0 0.00 NFATC4 4776 genome.wustl.edu 37 14 24838969 24838969 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 24838969 24838969 C G SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.554 p.S185C 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 5 4 44.44 11 0 0.00 NFATC4 4776 genome.wustl.edu 37 14 24838985 24838985 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 24838985 24838985 G A SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known silent c.570 p.P190 0.763 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 10 3 23.08 18 0 0.00 NFATC4 4776 genome.wustl.edu 37 14 24842959 24842959 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24842959 24842959 G A SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.1807 p.E603K 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 53 19 26.39 55 0 0.00 NFATC4 4776 genome.wustl.edu 37 14 24845656 24845656 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24845656 24845656 C T SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.2402 p.S801L 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 34 4 10.53 74 0 0.00 NFE2 4778 genome.wustl.edu 37 12 54686942 54686942 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 54686942 54686942 G C SNP NFE2 ENST00000312156 human ensembl 70_37 -1 known nonsense c.338 p.S113* 1.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 119 28 19.05 96 0 0.00 NFE2L1 4779 genome.wustl.edu 37 17 46135813 46135813 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 46135813 46135813 C T SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known missense c.1129 p.L377F 0.999 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 34 30 46.88 45 0 0.00 NFE2L1 4779 genome.wustl.edu 37 17 46135815 46135815 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46135815 46135815 C G SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known silent c.1131 p.L377 0.991 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 156 54 25.71 198 0 0.00 NFE2L1 4779 genome.wustl.edu 37 17 46136124 46136124 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 46136124 46136124 C T SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known silent c.1440 p.S480 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 13 3 18.75 33 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178095787 178095787 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 178095787 178095787 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1544 p.R515T 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 118 41 25.79 173 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178095888 178095888 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 178095888 178095888 G A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known silent c.1443 p.F481 1.000 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 28 10 26.32 28 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178095920 178095920 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178095920 178095920 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1411 p.E471Q 0.998 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 37 9 19.15 32 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178096193 178096193 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 178096193 178096193 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1138 p.E380Q 1.000 superfamily_Serpin_dom pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 156 35 18.32 206 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178096229 178096229 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178096229 178096229 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1102 p.D368H 1.000 superfamily_Serpin_dom pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 136 67 33.00 104 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178096533 178096533 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178096533 178096533 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.798 p.L266F 0.033 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 55 23 29.49 37 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178097218 178097218 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 178097218 178097218 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known nonsense c.496 p.E166* 0.027 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 49 10 16.95 48 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178097980 178097980 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178097980 178097980 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.400 p.E134Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 32 12 27.27 23 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 178098799 178098799 T A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.246 p.E82D 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 85 57 40.14 117 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098808 178098808 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 178098808 178098808 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.237 p.E79D 0.987 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 104 43 29.25 126 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 178098810 178098810 C T SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 104 35 25.18 173 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098816 178098816 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 178098816 178098816 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.229 p.D77H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 97 60 38.22 177 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098900 178098900 + Frame_Shift_Del DEL C C - TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 178098900 178098900 C - DEL NFE2L2 ENST00000397062 human ensembl 70_37 -1 known frame_shift_del c.145 p.E49fs 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 44 6 12.00 63 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098944 178098944 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 178098944 178098944 C T SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.101 p.R34Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 16 16 50.00 38 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 178098960 178098960 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29Y 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 19 12 38.71 56 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 178098960 178098960 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 28 12 29.27 54 0 0.00 NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 178098960 178098960 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 39 27 40.30 62 0 0.00 NFE2L3 9603 genome.wustl.edu 37 7 26224536 26224536 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 26224536 26224536 C G SNP NFE2L3 ENST00000056233 human ensembl 70_37 +1 known missense c.1218 p.I406M 0.153 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 123 49 28.49 261 0 0.00 NFE2L3 9603 genome.wustl.edu 37 7 26224804 26224804 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 26224804 26224804 C G SNP NFE2L3 ENST00000056233 human ensembl 70_37 +1 known missense c.1486 p.H496D 0.998 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 41 37 47.44 50 0 0.00 NFE2L3 9603 genome.wustl.edu 37 7 26225031 26225031 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 26225031 26225031 G C SNP NFE2L3 ENST00000056233 human ensembl 70_37 +1 known silent c.1713 p.L571 1.000 pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 84 49 36.84 100 0 0.00 NFIA 4774 genome.wustl.edu 37 1 61554147 61554147 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554147 61554147 C A SNP NFIA ENST00000371189 human ensembl 70_37 +1 known missense c.489 p.D163E 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 61 12 16.44 49 0 0.00 NFIA 4774 genome.wustl.edu 37 1 61554153 61554153 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554153 61554153 C T SNP NFIA ENST00000371189 human ensembl 70_37 +1 known silent c.495 p.L165 0.997 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 56 11 16.42 48 0 0.00 NFIA 4774 genome.wustl.edu 37 1 61554154 61554154 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554154 61554154 C T SNP NFIA ENST00000371189 human ensembl 70_37 +1 known missense c.496 p.R166C 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 55 11 16.67 47 0 0.00 NFIB 4781 genome.wustl.edu 37 9 14116247 14116247 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 14116247 14116247 C T SNP NFIB ENST00000397581 human ensembl 70_37 -1 known silent c.1344 p.L448 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 79 17 17.71 77 0 0.00 NFIC 4782 genome.wustl.edu 37 19 3434306 3434306 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 3434306 3434306 C T SNP NFIC ENST00000443272 human ensembl 70_37 +1 known silent c.741 p.F247 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 28 8 22.22 41 0 0.00 NFIC 4782 genome.wustl.edu 37 19 3434392 3434392 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 3434392 3434392 C G SNP NFIC ENST00000443272 human ensembl 70_37 +1 known missense c.827 p.S276C 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 30 5 14.29 29 0 0.00 NFIC 4782 genome.wustl.edu 37 19 3453781 3453781 + Silent SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 3453781 3453781 C G SNP NFIC ENST00000443272 human ensembl 70_37 +1 known silent c.1290 p.L430 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 158 37 18.97 162 0 0.00 NFIL3 4783 genome.wustl.edu 37 9 94172030 94172030 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 94172030 94172030 G C SNP NFIL3 ENST00000297689 human ensembl 70_37 -1 known missense c.987 p.I329M 0.963 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 14 17 54.84 21 0 0.00 NFKB1 4790 genome.wustl.edu 37 4 103501695 103501695 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 103501695 103501695 C A SNP NFKB1 ENST00000226574 human ensembl 70_37 +1 known missense c.734 p.A245D 1.000 superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 24 4 14.29 74 0 0.00 NFKB1 4790 genome.wustl.edu 37 4 103518705 103518705 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 103518705 103518705 G A SNP NFKB1 ENST00000226574 human ensembl 70_37 +1 known silent c.1524 p.Q508 1.000 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 33 25 43.10 58 0 0.00 NFKB1 4790 genome.wustl.edu 37 4 103534740 103534741 + Splice_Site INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 103534740 103534741 - A INS NFKB1 ENST00000226574 human ensembl 70_37 +1 known splice_site_ins c.2749+2_2749+1 e22+2 0.998:0.217 - - - no_errors NFKB1 HGNC ENSG00000109320 21 7 25.00 29 0 0.00 NFKB2 4791 genome.wustl.edu 37 10 104154243 104154243 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 104154243 104154243 C T SNP NFKB2 ENST00000593908 human ensembl 70_37 +1 known rna NULL NULL 0.963 - - - no_errors NFKB2 HGNC ENSG00000077150 24 9 27.27 53 0 0.00 NFKB2 4791 genome.wustl.edu 37 10 104159337 104159337 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 104159337 104159337 G A SNP NFKB2 ENST00000369966 human ensembl 70_37 +1 known missense c.1331 p.R444Q 0.131 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 2 5 71.43 9 0 0.00 NFKBIA 4792 genome.wustl.edu 37 14 35872446 35872446 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 35872446 35872446 C T SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known missense c.457 p.E153K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 42 11 20.75 44 0 0.00 NFKBIA 4792 genome.wustl.edu 37 14 35872491 35872491 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 35872491 35872491 C G SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known missense c.412 p.E138Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 36 37 50.00 45 0 0.00 NFKBIA 4792 genome.wustl.edu 37 14 35872941 35872941 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 35872941 35872941 C T SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known silent c.291 p.V97 0.260 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 32 14 30.43 38 0 0.00 NFKBID 84807 genome.wustl.edu 37 19 36380797 36380797 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36380797 36380797 C T SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known missense c.1339 p.E447K 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 53 13 19.70 66 0 0.00 NFKBID 84807 genome.wustl.edu 37 19 36381329 36381329 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 36381329 36381329 G A SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 0.982 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 131 57 30.00 163 0 0.00 NFKBID 84807 genome.wustl.edu 37 19 36393171 36393171 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 36393171 36393171 C G SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known missense c.15 p.L5F 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 49 34 40.96 93 0 0.00 NFKBIE 4794 genome.wustl.edu 37 6 44233056 44233056 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 44233056 44233056 C T SNP NFKBIE ENST00000275015 human ensembl 70_37 -1 known missense c.445 p.E149K 0.984 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIE HGNC ENSG00000146232 24 10 29.41 22 0 0.00 NFKBIE 4794 genome.wustl.edu 37 6 44233388 44233388 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 44233388 44233388 C T SNP NFKBIE ENST00000275015 human ensembl 70_37 -1 known missense c.113 p.R38Q 0.899 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIE HGNC ENSG00000146232 49 15 23.44 74 0 0.00 NFKBIZ 64332 genome.wustl.edu 37 3 101572421 101572421 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 101572421 101572421 G C SNP NFKBIZ ENST00000326172 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.980 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 78 18 18.56 48 0 0.00 NFS1 9054 genome.wustl.edu 37 20 34263075 34263075 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 20 34263075 34263075 G A SNP NFS1 ENST00000374092 human ensembl 70_37 -1 known silent c.840 p.A280 1.000 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 26 16 38.10 35 0 0.00 NFU1 27247 genome.wustl.edu 37 2 69633183 69633183 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 69633183 69633183 C T SNP NFU1 ENST00000410022 human ensembl 70_37 -1 known missense c.516 p.M172I 1.000 pirsf_HIRA-interacting_protein_5 pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5 - no_errors NFU1 HGNC ENSG00000169599 27 7 20.59 61 0 0.00 NFX1 4799 genome.wustl.edu 37 9 33347041 33347041 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 33347041 33347041 C G SNP NFX1 ENST00000379540 human ensembl 70_37 +1 known missense c.2350 p.H784D 1.000 smart_Znf_NFX1 pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 17 10 37.04 38 0 0.00 NFX1 4799 genome.wustl.edu 37 9 33351829 33351829 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 33351829 33351829 C T SNP NFX1 ENST00000466971 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NFX1 HGNC ENSG00000086102 30 18 37.50 62 0 0.00 NFX1 4799 genome.wustl.edu 37 9 33366700 33366700 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 9 33366700 33366700 C T SNP NFX1 ENST00000379540 human ensembl 70_37 +1 known missense c.3113 p.A1038V 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 47 7 12.96 36 0 0.00 NFX1 4799 genome.wustl.edu 37 9 33366761 33366761 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 33366761 33366761 C T SNP NFX1 ENST00000379540 human ensembl 70_37 +1 known silent c.3174 p.V1058 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 42 7 14.29 26 0 0.00 NFXL1 152518 genome.wustl.edu 37 4 47850303 47850303 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 4 47850303 47850303 G T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known missense c.2613 p.N871K 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 35 4 10.26 58 0 0.00 NFXL1 152518 genome.wustl.edu 37 4 47853888 47853888 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 47853888 47853888 C T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known silent c.2493 p.K831 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 28 12 30.00 60 0 0.00 NFXL1 152518 genome.wustl.edu 37 4 47880600 47880600 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 47880600 47880600 G T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known missense c.2021 p.T674K 0.810 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 23 3 11.54 29 0 0.00 NFYA 4800 genome.wustl.edu 37 6 41060708 41060708 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 41060708 41060708 G A SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 NULL pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC ENSG00000001167 125 28 18.30 167 0 0.00 NFYA 4800 genome.wustl.edu 37 6 41060767 41060767 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 41060767 41060767 G C SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC ENSG00000001167 23 13 36.11 15 0 0.00 NFYA 4800 genome.wustl.edu 37 6 41065114 41065114 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 41065114 41065114 G A SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.1009 p.E337K 1.000 NULL pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC ENSG00000001167 48 27 36.00 75 0 0.00 NFYB 4801 genome.wustl.edu 37 12 104514219 104514219 + Missense_Mutation SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 12 104514219 104514219 G C SNP NFYB ENST00000240055 human ensembl 70_37 -1 known missense c.550 p.Q184E 1.000 superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors NFYB HGNC ENSG00000120837 45 7 13.46 49 0 0.00 NFYC 4802 genome.wustl.edu 37 1 41236471 41236471 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 41236471 41236471 G A SNP NFYC ENST00000308733 human ensembl 70_37 +1 known missense c.1348 p.G450R 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 74 38 33.93 74 0 0.00 NGB 58157 genome.wustl.edu 37 14 77734848 77734848 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 14 77734848 77734848 C A SNP NGB ENST00000298352 human ensembl 70_37 -1 known missense c.282 p.R94S 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC ENSG00000165553 29 5 14.71 28 0 0.00 NGEF 25791 genome.wustl.edu 37 2 233744295 233744295 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 233744295 233744295 C G SNP NGEF ENST00000264051 human ensembl 70_37 -1 known missense c.2037 p.Q679H 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 36 17 32.08 84 0 0.00 NGEF 25791 genome.wustl.edu 37 2 233748711 233748711 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 233748711 233748711 C T SNP NGEF ENST00000264051 human ensembl 70_37 -1 known silent c.1581 p.V527 0.867 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 14 28 66.67 89 0 0.00 NGF 4803 genome.wustl.edu 37 1 115828996 115828996 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 115828996 115828996 C T SNP NGF ENST00000369512 human ensembl 70_37 -1 known missense c.421 p.V141M 0.996 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 59 18 23.38 60 0 0.00 NGF 4803 genome.wustl.edu 37 1 115829246 115829246 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 115829246 115829246 C T SNP NGF ENST00000369512 human ensembl 70_37 -1 known silent c.171 p.A57 0.000 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 39 18 31.58 63 0 0.00 NGFR 4804 genome.wustl.edu 37 17 47590069 47590069 + Splice_Site SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 47590069 47590069 G T SNP NGFR ENST00000172229 human ensembl 70_37 +1 known splice_site c.983-1 e6-1 1.000 - - - no_errors NGFR HGNC ENSG00000064300 52 20 27.40 113 0 0.00 NGLY1 55768 genome.wustl.edu 37 3 25770649 25770649 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 25770649 25770649 C G SNP NGLY1 ENST00000280700 human ensembl 70_37 -1 known missense c.1586 p.R529T 1.000 pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 26 16 38.10 44 0 0.00 NGLY1 55768 genome.wustl.edu 37 3 25775374 25775374 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 25775374 25775374 G T SNP NGLY1 ENST00000280700 human ensembl 70_37 -1 known missense c.1249 p.L417I 0.945 pfam_Rad4/PNGase_transGLS-fold pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 17 3 15.00 54 0 0.00 NGRN 51335 genome.wustl.edu 37 15 90814635 90814635 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90814635 90814635 C T SNP NGRN ENST00000379095 human ensembl 70_37 +1 known missense c.491 p.P164L 0.576 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 18 7 28.00 29 0 0.00 NGRN 51335 genome.wustl.edu 37 15 90814647 90814647 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90814647 90814647 C T SNP NGRN ENST00000379095 human ensembl 70_37 +1 known missense c.503 p.S168F 0.000 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 19 8 29.63 32 0 0.00 NHEJ1 79840 genome.wustl.edu 37 2 220025455 220025455 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 220025455 220025455 G C SNP NHEJ1 ENST00000481764 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors NHEJ1 HGNC ENSG00000187736 34 13 27.66 21 0 0.00 NHLH2 4808 genome.wustl.edu 37 1 116380715 116380715 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 116380715 116380715 G T SNP NHLH2 ENST00000320238 human ensembl 70_37 -1 known missense c.279 p.F93L 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NHLH2 HGNC ENSG00000177551 40 13 24.07 86 0 0.00 NHLH2 4808 genome.wustl.edu 37 1 116380753 116380753 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 116380753 116380753 C T SNP NHLH2 ENST00000320238 human ensembl 70_37 -1 known missense c.241 p.A81T 1.000 pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NHLH2 HGNC ENSG00000177551 31 18 36.73 56 0 0.00 NHLRC1 378884 genome.wustl.edu 37 6 18121697 18121697 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 18121697 18121697 C T SNP NHLRC1 ENST00000340650 human ensembl 70_37 -1 known missense c.1141 p.D381N 1.000 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 21 7 25.00 37 0 0.00 NHLRC2 374354 genome.wustl.edu 37 10 115661612 115661612 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 115661612 115661612 G C SNP NHLRC2 ENST00000369301 human ensembl 70_37 +1 known missense c.1327 p.D443H 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 16 9 36.00 35 0 0.00 NHLRC3 387921 genome.wustl.edu 37 13 39613372 39613372 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 39613372 39613372 A C SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known missense c.184 p.T62P 0.002 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 20 3 13.04 63 0 0.00 NHLRC3 387921 genome.wustl.edu 37 13 39613751 39613751 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 39613751 39613751 C T SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known silent c.288 p.F96 0.991 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 27 15 35.71 46 0 0.00 NHLRC3 387921 genome.wustl.edu 37 13 39616414 39616414 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 39616414 39616414 G C SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known missense c.558 p.L186F 0.998 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 30 5 14.29 34 0 0.00 NHP2L1 4809 genome.wustl.edu 37 22 42071172 42071172 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 42071172 42071172 G C SNP NHP2L1 ENST00000215956 human ensembl 70_37 -1 known missense c.152 p.S51C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_Ribosomal_L7Ae_prok pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok - no_errors NHP2L1 HGNC ENSG00000100138 78 10 11.36 103 0 0.00 NHS 4810 genome.wustl.edu 37 X 17710460 17710460 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 17710460 17710460 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.724 p.R242W 0.997 NULL NULL - no_errors NHS HGNC ENSG00000188158 37 42 53.16 74 0 0.00 NHS 4810 genome.wustl.edu 37 X 17743568 17743568 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 17743568 17743568 G C SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1279 p.E427Q 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 64 50 43.86 80 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744047 17744047 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 17744047 17744047 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1758 p.I586M 0.999 NULL NULL - no_errors NHS HGNC ENSG00000188158 31 9 22.50 20 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744069 17744069 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 X 17744069 17744069 G A SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1780 p.V594I 0.998 NULL NULL - no_errors NHS HGNC ENSG00000188158 49 18 26.87 28 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744156 17744156 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 17744156 17744156 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 28 17 37.78 34 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744187 17744187 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 17744187 17744187 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1898 p.S633F 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 36 4 10.00 41 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744197 17744197 + Silent SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 17744197 17744197 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known silent c.1908 p.L636 0.984 NULL NULL - no_errors NHS HGNC ENSG00000188158 34 7 17.07 26 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744255 17744255 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 17744255 17744255 G A SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1966 p.E656K 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 32 16 33.33 39 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744357 17744357 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 17744357 17744357 G A SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.2068 p.D690N 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 38 18 32.14 71 0 0.00 NHS 4810 genome.wustl.edu 37 X 17744529 17744529 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 17744529 17744529 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.2240 p.S747L 0.997 NULL NULL - no_errors NHS HGNC ENSG00000188158 38 11 22.45 29 0 0.00 NHS 4810 genome.wustl.edu 37 X 17745123 17745123 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 17745123 17745123 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.2834 p.S945* 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 16 13 44.83 23 0 0.00 NHS 4810 genome.wustl.edu 37 X 17746202 17746202 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 17746202 17746202 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.3913 p.Q1305* 0.014 NULL NULL - no_errors NHS HGNC ENSG00000188158 26 16 38.10 29 0 0.00 NHS 4810 genome.wustl.edu 37 X 17746794 17746794 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 17746794 17746794 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.4185 p.I1395M 0.039 NULL NULL - no_errors NHS HGNC ENSG00000188158 30 4 11.76 40 0 0.00 NHSL1 57224 genome.wustl.edu 37 6 138745300 138745300 + Missense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 138745300 138745300 G T SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known missense c.4751 p.P1584H 0.000 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 19 4 17.39 34 0 0.00 NHSL1 57224 genome.wustl.edu 37 6 138754791 138754791 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 138754791 138754791 C T SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known missense c.703 p.D235N 0.009 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 11 7 38.89 21 0 0.00 NHSL2 340527 genome.wustl.edu 37 X 71360613 71360613 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 71360613 71360613 G A SNP NHSL2 ENST00000540800 human ensembl 70_37 +1 known missense c.3215 p.S1072N 0.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 71 15 17.44 103 0 0.00 NICN1-AS1 100874017 genome.wustl.edu 37 3 49460631 49460631 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49460631 49460631 G T SNP NICN1-AS1 ENST00000424915 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NICN1-AS1 HGNC ENSG00000235261 28 4 12.50 37 0 0.00 NID1 4811 genome.wustl.edu 37 1 236205327 236205327 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 236205327 236205327 C T SNP NID1 ENST00000264187 human ensembl 70_37 -1 known missense c.1018 p.E340K 0.140 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 38 24 38.71 31 0 0.00 NID1 4811 genome.wustl.edu 37 1 236208917 236208917 + Nonsense_Mutation SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 236208917 236208917 C A SNP NID1 ENST00000264187 human ensembl 70_37 -1 known nonsense c.592 p.E198* 1.000 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 26 12 31.58 51 0 0.00 NID1 4811 genome.wustl.edu 37 1 236212096 236212096 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 236212096 236212096 C A SNP NID1 ENST00000264187 human ensembl 70_37 -1 known missense c.419 p.R140I 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 16 6 27.27 16 0 0.00 NID2 22795 genome.wustl.edu 37 14 52509538 52509538 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 52509538 52509538 G C SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.1541 p.S514C 1.000 smart_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 49 27 35.53 66 0 0.00 NID2 22795 genome.wustl.edu 37 14 52520402 52520402 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 52520402 52520402 C A SNP NID2 ENST00000216286 human ensembl 70_37 -1 known nonsense c.1324 p.E442* 0.046 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 16 16 50.00 48 0 0.00 NID2 22795 genome.wustl.edu 37 14 52520405 52520405 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 52520405 52520405 C T SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.1321 p.E441K 0.201 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 45 10 18.18 68 0 0.00 NID2 22795 genome.wustl.edu 37 14 52534754 52534754 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 52534754 52534754 C T SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.356 p.R119K 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 52 10 16.13 78 0 0.00 NIF3L1 60491 genome.wustl.edu 37 2 201756712 201756712 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 201756712 201756712 G A SNP NIF3L1 ENST00000409020 human ensembl 70_37 +1 known missense c.46 p.V16I 0.000 pirsf_UCP037490_NIF3_euk pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 68 52 43.33 130 0 0.00 NIF3L1 60491 genome.wustl.edu 37 2 201761901 201761901 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 201761901 201761901 C T SNP NIF3L1 ENST00000409020 human ensembl 70_37 +1 known missense c.829 p.H277Y 1.000 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 20 5 20.00 43 0 0.00 NIM1 167359 genome.wustl.edu 37 5 43277278 43277278 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 43277278 43277278 G A SNP NIM1 ENST00000326035 human ensembl 70_37 +1 known missense c.412 p.E138K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NIM1 Uniprot_genename ENSG00000177453 44 15 25.42 70 0 0.00 NIN 51199 genome.wustl.edu 37 14 51192747 51192747 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 51192747 51192747 C T SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.6116 p.R2039Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 95 31 24.60 171 0 0.00 NIN 51199 genome.wustl.edu 37 14 51221467 51221467 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 51221467 51221467 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.4657 p.E1553Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 85 34 28.57 91 0 0.00 NIN 51199 genome.wustl.edu 37 14 51223799 51223799 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 51223799 51223799 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.3949 p.E1317Q 0.981 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 26 25 49.02 50 0 0.00 NIN 51199 genome.wustl.edu 37 14 51225146 51225146 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 51225146 51225146 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.2602 p.E868Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 17 11 39.29 35 0 0.00 NINL 22981 genome.wustl.edu 37 20 25443110 25443110 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25443110 25443110 G C SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.3491 p.S1164C 0.079 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 43 40 48.19 70 0 0.00 NINL 22981 genome.wustl.edu 37 20 25443162 25443162 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 25443162 25443162 C G SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.3439 p.D1147H 0.928 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 36 28 43.75 54 0 0.00 NINL 22981 genome.wustl.edu 37 20 25459789 25459789 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25459789 25459789 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known silent c.1971 p.E657 0.988 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 23 15 39.47 31 0 0.00 NINL 22981 genome.wustl.edu 37 20 25460854 25460854 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 25460854 25460854 C G SNP NINL ENST00000278886 human ensembl 70_37 -1 known silent c.1860 p.L620 0.024 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 25 8 24.24 49 0 0.00 NINL 22981 genome.wustl.edu 37 20 25477429 25477429 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 25477429 25477429 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 28 6 17.65 24 0 0.00 NINL 22981 genome.wustl.edu 37 20 25491352 25491352 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 25491352 25491352 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.475 p.E159K 0.082 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 76 30 28.30 129 0 0.00 NIPA2 81614 genome.wustl.edu 37 15 23014466 23014466 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 23014466 23014466 G C SNP NIPA2 ENST00000337451 human ensembl 70_37 -1 known missense c.259 p.P87A 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 9 4 30.77 16 0 0.00 NIPAL1 152519 genome.wustl.edu 37 4 48036978 48036978 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 48036978 48036978 C T SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known missense c.542 p.S181L 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 40 16 28.57 43 0 0.00 NIPAL1 152519 genome.wustl.edu 37 4 48037752 48037752 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48037752 48037752 G C SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known missense c.796 p.E266Q 0.022 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 20 21 51.22 37 0 0.00 NIPAL1 152519 genome.wustl.edu 37 4 48037979 48037979 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 48037979 48037979 G C SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1023 p.L341 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 7 28 80.00 64 0 0.00 NIPAL1 152519 genome.wustl.edu 37 4 48037979 48037979 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 48037979 48037979 G T SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1023 p.L341 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 59 37 38.54 90 0 0.00 NIPAL1 152519 genome.wustl.edu 37 4 48038114 48038114 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 48038114 48038114 T G SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1158 p.V386 0.161 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 20 17 45.95 44 0 0.00 NIPAL2 79815 genome.wustl.edu 37 8 99208193 99208193 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 99208193 99208193 G A SNP NIPAL2 ENST00000341166 human ensembl 70_37 -1 known silent c.921 p.L307 0.819 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 63 7 10.00 101 0 0.00 NIPAL2 79815 genome.wustl.edu 37 8 99264812 99264812 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 99264812 99264812 G A SNP NIPAL2 ENST00000341166 human ensembl 70_37 -1 known silent c.255 p.F85 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 74 24 24.49 108 0 0.00 NIPAL3 57185 genome.wustl.edu 37 1 24768628 24768628 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 24768628 24768628 G A SNP NIPAL3 ENST00000374399 human ensembl 70_37 +1 known silent c.246 p.L82 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 77 25 24.51 62 0 0.00 NIPAL3 57185 genome.wustl.edu 37 1 24771731 24771731 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 24771731 24771731 C T SNP NIPAL3 ENST00000374399 human ensembl 70_37 +1 known silent c.391 p.L131 0.996 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 16 57 78.08 32 0 0.00 NIPAL3 57185 genome.wustl.edu 37 1 24787009 24787009 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 24787009 24787009 C T SNP NIPAL3 ENST00000374399 human ensembl 70_37 +1 known silent c.901 p.L301 0.999 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 79 32 28.83 94 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 36955658 36955658 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 36955658 36955658 T C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.149 p.V50A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 74 13 14.77 24 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 36971070 36971070 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 36971070 36971070 C G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.703 p.H235D 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 44 52 54.17 84 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 36972051 36972051 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 36972051 36972051 G C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.776 p.G259A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 29 15 34.09 62 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 36985280 36985280 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 36985280 36985280 C T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.1998 p.S666 0.657 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 18 5 21.74 13 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 36985324 36985324 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 36985324 36985324 C G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.2042 p.T681R 0.753 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 17 3 15.00 11 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37006623 37006623 + Silent SNP T T A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 37006623 37006623 T A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.4020 p.T1340 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 86 17 16.50 43 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37006624 37006624 + Nonsense_Mutation SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 37006624 37006624 A T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known nonsense c.4021 p.K1341* 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 86 17 16.50 42 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37038789 37038789 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37038789 37038789 C G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.6057 p.L2019 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 27 23 46.00 36 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37044825 37044825 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 37044825 37044825 T G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.6337 p.Y2113D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 25 14 35.90 50 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37057342 37057342 + Missense_Mutation SNP T T A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 37057342 37057342 T A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7318 p.Y2440N 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 45 9 16.67 79 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37057354 37057354 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 37057354 37057354 G A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7330 p.E2444K 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 125 35 21.88 79 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37063920 37063920 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 37063920 37063920 C T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7889 p.P2630L 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 18 9 33.33 19 0 0.00 NIPBL 25836 genome.wustl.edu 37 5 37063934 37063934 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37063934 37063934 G C SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7903 p.E2635Q 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 8 10 55.56 8 0 0.00 NIPSNAP1 8508 genome.wustl.edu 37 22 29956727 29956727 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 29956727 29956727 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known silent c.702 p.L234 0.994 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 28 18 39.13 33 0 0.00 NIPSNAP1 8508 genome.wustl.edu 37 22 29956745 29956745 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 29956745 29956745 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known silent c.684 p.L228 0.996 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 28 16 36.36 37 0 0.00 NIPSNAP1 8508 genome.wustl.edu 37 22 29956795 29956795 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 29956795 29956795 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known missense c.634 p.Q212E 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 23 5 17.86 33 0 0.00 NIPSNAP1 8508 genome.wustl.edu 37 22 29957821 29957821 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 29957821 29957821 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known missense c.398 p.P133R 1.000 superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 37 20 35.09 73 0 0.00 NIPSNAP3B 55335 genome.wustl.edu 37 9 107531250 107531250 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 107531250 107531250 G A SNP NIPSNAP3B ENST00000374762 human ensembl 70_37 +1 known silent c.378 p.T126 0.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 34 11 24.44 76 0 0.00 NIPSNAP3B 55335 genome.wustl.edu 37 9 107531250 107531250 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 107531250 107531250 G A SNP NIPSNAP3B ENST00000374762 human ensembl 70_37 +1 known silent c.378 p.T126 0.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 40 27 40.30 39 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52513765 52513765 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 52513765 52513765 G T SNP NISCH ENST00000345716 human ensembl 70_37 +1 known missense c.1303 p.V435F 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 21 4 16.00 21 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52514409 52514409 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 52514409 52514409 C T SNP NISCH ENST00000488380 human ensembl 70_37 +1 known silent c.1626 p.F542 0.019 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 14 11 44.00 70 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52521596 52521596 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 52521596 52521596 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.2088 p.A696 0.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 44 5 10.20 51 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52522532 52522532 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52522532 52522532 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.3024 p.L1008 0.984 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 35 21 37.50 37 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52524094 52524094 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52524094 52524094 G C SNP NISCH ENST00000345716 human ensembl 70_37 +1 known missense c.3460 p.E1154Q 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 72 32 30.77 82 0 0.00 NISCH 11188 genome.wustl.edu 37 3 52524734 52524734 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52524734 52524734 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.3627 p.Q1209 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 51 34 39.53 71 0 0.00 NIT1 4817 genome.wustl.edu 37 1 161090430 161090430 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 161090430 161090430 G C SNP NIT1 ENST00000368009 human ensembl 70_37 +1 known missense c.859 p.E287Q 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 66 31 31.96 79 0 0.00 NKAIN2 154215 genome.wustl.edu 37 6 124604274 124604274 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 124604274 124604274 C T SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known missense c.178 p.R60C 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 29 20 40.82 51 0 0.00 NKAIN2 154215 genome.wustl.edu 37 6 124979388 124979388 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 124979388 124979388 G A SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known silent c.330 p.E110 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 68 30 30.61 123 0 0.00 NKAIN2 154215 genome.wustl.edu 37 6 124979592 124979592 + Silent SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 124979592 124979592 G A SNP NKAIN2 ENST00000368416 human ensembl 70_37 +1 known silent c.534 p.A178 0.000 NULL pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 7 22 73.33 23 0 0.00 NKAP 79576 genome.wustl.edu 37 X 119059328 119059328 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 119059328 119059328 C T SNP NKAP ENST00000371410 human ensembl 70_37 -1 known missense c.1103 p.R368Q 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 57 14 19.72 31 0 0.00 NKAP 79576 genome.wustl.edu 37 X 119064010 119064010 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 119064010 119064010 C G SNP NKAP ENST00000371410 human ensembl 70_37 -1 known missense c.1042 p.E348Q 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 20 10 33.33 48 0 0.00 NKAP 79576 genome.wustl.edu 37 X 119068474 119068474 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 X 119068474 119068474 C G SNP NKAP ENST00000371410 human ensembl 70_37 -1 known missense c.720 p.K240N 1.000 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 7 3 30.00 18 0 0.00 NKAPL 222698 genome.wustl.edu 37 6 28227227 28227227 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 28227227 28227227 C T SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known silent c.78 p.S26 0.781 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 64 13 16.88 60 0 0.00 NKAPL 222698 genome.wustl.edu 37 6 28227708 28227708 + Missense_Mutation SNP A A G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 28227708 28227708 A G SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.559 p.K187E 0.992 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 10 4 28.57 15 0 0.00 NKAPL 222698 genome.wustl.edu 37 6 28228147 28228147 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 28228147 28228147 C A SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.998 p.S333Y 0.949 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 12 6 33.33 25 0 0.00 NKAPL 222698 genome.wustl.edu 37 6 28228247 28228247 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28228247 28228247 G C SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.1098 p.K366N 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 13 12 48.00 19 0 0.00 NKAPL 222698 genome.wustl.edu 37 6 28228286 28228286 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28228286 28228286 G C SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.1137 p.K379N 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 15 13 46.43 24 0 0.00 NKAPP1 158801 genome.wustl.edu 37 X 119370494 119370494 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119370494 119370494 G C SNP NKAPP1 ENST00000452254 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NKAPP1 HGNC ENSG00000233382 43 12 21.82 38 0 0.00 NKD1 85407 genome.wustl.edu 37 16 50667159 50667159 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 50667159 50667159 C T SNP NKD1 ENST00000268459 human ensembl 70_37 +1 known nonsense c.880 p.R294* 0.543 NULL pfscan_EF_HAND_2 - no_errors NKD1 HGNC ENSG00000140807 66 12 15.38 116 1 0.85 NKD2 85409 genome.wustl.edu 37 5 1036407 1036407 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 1036407 1036407 G A SNP NKD2 ENST00000296849 human ensembl 70_37 +1 known missense c.695 p.R232Q 0.943 NULL pfscan_EF_HAND_2 - no_errors NKD2 HGNC ENSG00000145506 47 12 20.00 79 0 0.00 NKD2 85409 genome.wustl.edu 37 5 1037712 1037712 + Silent SNP A A C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 1037712 1037712 A C SNP NKD2 ENST00000537972 human ensembl 70_37 +1 known silent c.865 p.R289 0.006 NULL pfscan_EF_HAND_2 - no_errors NKD2 HGNC ENSG00000145506 56 15 21.13 49 0 0.00 NKG7 4818 genome.wustl.edu 37 19 51875736 51875736 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 51875736 51875736 G A SNP NKG7 ENST00000221978 human ensembl 70_37 -1 known silent c.54 p.F18 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors NKG7 HGNC ENSG00000105374 33 6 15.38 41 0 0.00 NKIRAS2 28511 genome.wustl.edu 37 17 40173651 40173651 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 40173651 40173651 C T SNP NKIRAS2 ENST00000307641 human ensembl 70_37 +1 known missense c.56 p.S19L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 30 10 25.00 34 0 0.00 NKPD1 284353 genome.wustl.edu 37 19 45655990 45655990 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45655990 45655990 C T SNP NKPD1 ENST00000317951 human ensembl 70_37 -1 known missense c.1705 p.E569K 0.932 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 16 10 38.46 15 0 0.00 NKPD1 284353 genome.wustl.edu 37 19 45657004 45657004 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 45657004 45657004 C T SNP NKPD1 ENST00000317951 human ensembl 70_37 -1 known missense c.691 p.E231K 0.434 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 8 4 33.33 10 0 0.00 NKRF 55922 genome.wustl.edu 37 X 118723425 118723425 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 118723425 118723425 C T SNP NKRF ENST00000542113 human ensembl 70_37 -1 known missense c.2008 p.D670N 0.993 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 52 21 28.77 79 0 0.00 NKRF 55922 genome.wustl.edu 37 X 118724034 118724034 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 118724034 118724034 C T SNP NKRF ENST00000542113 human ensembl 70_37 -1 known missense c.1399 p.V467M 0.994 smart_Ds-RNA-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 44 17 27.87 46 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42662975 42662975 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 42662975 42662975 G A SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.341 p.R114Q 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 49 15 23.44 45 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42674112 42674112 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 42674112 42674112 G C SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.570 p.K190N 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 22 7 24.14 30 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42674223 42674223 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 42674223 42674223 G T SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.681 p.K227N 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 17 19 52.78 27 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42678943 42678943 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 42678943 42678943 G A SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.1747 p.E583K 0.997 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 9 6 40.00 12 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42680356 42680356 + Frame_Shift_Del DEL A A - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 42680356 42680356 A - DEL NKTR ENST00000232978 human ensembl 70_37 +1 known frame_shift_del c.3160 p.N1054fs 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 9 2 18.18 33 0 0.00 NKTR 4820 genome.wustl.edu 37 3 42687388 42687388 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 42687388 42687388 G C SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.4310 p.R1437T 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 39 11 22.00 46 0 0.00 NKX2-1 7080 genome.wustl.edu 37 14 36988394 36988394 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 36988394 36988394 C T SNP NKX2-1 ENST00000354822 human ensembl 70_37 -1 known missense c.259 p.A87T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 6 7 53.85 13 0 0.00 NKX2-1 7080 genome.wustl.edu 37 14 36988461 36988461 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 36988461 36988461 G A SNP NKX2-1 ENST00000354822 human ensembl 70_37 -1 known silent c.192 p.L64 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 18 7 28.00 22 0 0.00 NKX2-2 4821 genome.wustl.edu 37 20 21492756 21492756 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 21492756 21492756 G C SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known silent c.627 p.V209 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 66 21 24.14 69 0 0.00 NKX2-2 4821 genome.wustl.edu 37 20 21492887 21492887 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 21492887 21492887 G A SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.496 p.R166C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 152 32 17.39 156 0 0.00 NKX2-2 4821 genome.wustl.edu 37 20 21492910 21492910 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 20 21492910 21492910 C T SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.473 p.R158H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 82 35 29.91 123 1 0.81 NKX2-2 4821 genome.wustl.edu 37 20 21494232 21494232 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 21494232 21494232 C T SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.76 p.G26S 0.995 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 40 32 44.44 59 0 0.00 NKX2-6 137814 genome.wustl.edu 37 8 23560158 23560158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23560158 23560158 C G SNP NKX2-6 ENST00000418222 human ensembl 70_37 -1 known missense c.466 p.V156L 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 49 13 20.63 43 0 0.00 NKX2-6 137814 genome.wustl.edu 37 8 23563960 23563960 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 23563960 23563960 C G SNP NKX2-6 ENST00000325017 human ensembl 70_37 -1 novel missense c.152 p.R51P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 9 36 80.00 91 0 0.00 NKX3-1 4824 genome.wustl.edu 37 8 23538902 23538902 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 23538902 23538902 A G SNP NKX3-1 ENST00000380871 human ensembl 70_37 -1 known silent c.537 p.T179 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 56 7 11.11 101 1 0.98 NKX6-1 4825 genome.wustl.edu 37 4 85414693 85414693 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 85414693 85414693 G T SNP NKX6-1 ENST00000295886 human ensembl 70_37 -1 known missense c.853 p.Q285K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 31 4 11.43 38 0 0.00 NLE1 54475 genome.wustl.edu 37 17 33467052 33467052 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 33467052 33467052 C T SNP NLE1 ENST00000442241 human ensembl 70_37 -1 known missense c.196 p.D66N 0.047 pfam_NLE pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 20 3 13.04 54 0 0.00 NLGN1 22871 genome.wustl.edu 37 3 173322819 173322819 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 173322819 173322819 C T SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.431 p.S144L 0.968 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 14 6 30.00 17 0 0.00 NLGN1 22871 genome.wustl.edu 37 3 173996843 173996843 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 173996843 173996843 G C SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.1172 p.R391P 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 55 54 49.09 120 0 0.00 NLGN1 22871 genome.wustl.edu 37 3 173997105 173997105 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 173997105 173997105 C G SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.1434 p.F478L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 44 13 22.81 48 0 0.00 NLGN1 22871 genome.wustl.edu 37 3 173998301 173998301 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 173998301 173998301 G A SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known silent c.1800 p.T600 0.999 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 18 20 52.63 21 0 0.00 NLGN1 22871 genome.wustl.edu 37 3 173998546 173998546 + Missense_Mutation SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 173998546 173998546 A G SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.2045 p.N682S 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 31 5 13.89 22 0 0.00 NLGN2 57555 genome.wustl.edu 37 17 7318956 7318956 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 7318956 7318956 C G SNP NLGN2 ENST00000302926 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 161 25 13.44 202 0 0.00 NLGN2 57555 genome.wustl.edu 37 17 7318956 7318956 + Silent SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 7318956 7318956 C G SNP NLGN2 ENST00000302926 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 24 11 31.43 34 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70367612 70367613 + Frame_Shift_Ins INS - - T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 70367612 70367613 - T INS NLGN3 ENST00000358741 human ensembl 70_37 +1 known frame_shift_ins c.13_14 p.G6fs 0.999:0.999 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 16 4 20.00 29 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70387001 70387001 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 70387001 70387001 C G SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known missense c.1054 p.L352V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 16 24 60.00 56 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70387280 70387280 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 70387280 70387280 G A SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known missense c.1333 p.E445K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 79 16 16.84 66 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70387591 70387591 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70387591 70387591 G A SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known silent c.1644 p.K548 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 81 29 26.36 110 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70389651 70389651 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a X 70389651 70389651 G A SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known missense c.2251 p.G751R 0.728 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 6 9 60.00 15 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70390007 70390008 + RNA INS - - CA TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 70390007 70390008 - CA INS NLGN3 ENST00000476589 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.422 - - - no_errors NLGN3 HGNC ENSG00000196338 20 8 28.57 23 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70390052 70390052 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70390052 70390052 T C SNP NLGN3 ENST00000476589 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLGN3 HGNC ENSG00000196338 22 4 15.38 35 0 0.00 NLGN3 54413 genome.wustl.edu 37 X 70390335 70390335 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 70390335 70390335 G A SNP NLGN3 ENST00000476589 human ensembl 70_37 +1 known rna NULL NULL 0.402 - - - no_errors NLGN3 HGNC ENSG00000196338 32 14 30.43 43 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5811015 5811015 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 5811015 5811015 C T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.2354 p.R785H 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 107 19 15.08 107 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5821162 5821162 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 5821162 5821162 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1617 p.L539 0.990 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 103 31 23.13 150 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5821213 5821213 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 5821213 5821213 G T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1566 p.I522 0.742 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 73 33 31.13 79 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5821223 5821223 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 5821223 5821223 A G SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.1556 p.I519T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 88 24 21.43 100 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5821413 5821413 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 5821413 5821413 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.1366 p.R456W 0.278 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 61 54 46.96 96 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5821630 5821630 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 5821630 5821630 G C SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1149 p.L383 0.057 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 121 18 12.77 83 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 5827180 5827180 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 5827180 5827180 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.786 p.G262 0.946 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 151 42 21.76 112 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 6069278 6069278 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 6069278 6069278 G T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.230 p.P77H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 45 40 47.06 87 0 0.00 NLGN4X 57502 genome.wustl.edu 37 X 6069406 6069406 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 6069406 6069406 G C SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.102 p.I34M 0.004 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 120 31 20.53 192 0 0.00 NLN 57486 genome.wustl.edu 37 5 65058893 65058893 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 65058893 65058893 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.408 p.M136I 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 35 12 25.53 45 0 0.00 NLN 57486 genome.wustl.edu 37 5 65058915 65058915 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 65058915 65058915 G C SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 45 18 28.57 58 0 0.00 NLN 57486 genome.wustl.edu 37 5 65077185 65077185 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 65077185 65077185 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known silent c.759 p.K253 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 103 12 10.43 100 0 0.00 NLN 57486 genome.wustl.edu 37 5 65084037 65084037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 65084037 65084037 G C SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.997 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 19 16 45.71 40 0 0.00 NLN 57486 genome.wustl.edu 37 5 65084259 65084259 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 65084259 65084259 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.1273 p.D425N 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 48 11 18.64 58 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3594300 3594300 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 3594300 3594300 C G SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2939 p.G980A 0.875 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 34 21 38.18 62 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3598136 3598136 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 3598136 3598136 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2908 p.D970N 0.904 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 10 3 23.08 16 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3602271 3602271 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3602271 3602271 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known silent c.2418 p.K806 0.999 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 12 12 50.00 29 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3611719 3611719 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 3611719 3611719 G A SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2140 p.R714C 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 50 10 16.67 61 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3613196 3613196 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 3613196 3613196 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.1883 p.R628H 0.017 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 7 3 30.00 10 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3613354 3613354 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 3613354 3613354 G C SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known silent c.1725 p.L575 0.963 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 12 6 33.33 8 0 0.00 NLRC3 197358 genome.wustl.edu 37 16 3613849 3613849 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 3613849 3613849 G C SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known silent c.1230 p.L410 0.871 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 16 8 32.00 31 0 0.00 NLRC4 58484 genome.wustl.edu 37 2 32463229 32463229 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32463229 32463229 G T SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known nonsense c.2493 p.C831* 0.989 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 19 3 13.64 45 0 0.00 NLRC4 58484 genome.wustl.edu 37 2 32463279 32463279 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 32463279 32463279 G A SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known silent c.2443 p.L815 0.414 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 16 16 50.00 36 0 0.00 NLRC4 58484 genome.wustl.edu 37 2 32475118 32475118 + Silent SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 32475118 32475118 A G SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known silent c.1815 p.C605 0.990 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 48 14 22.58 72 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57059957 57059957 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57059957 57059957 G C SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.1102 p.D368H 0.952 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 28 12 30.00 47 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57063770 57063770 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 57063770 57063770 T G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known splice_site c.2327+2 e7+2 1.000 - - - no_errors NLRC5 HGNC ENSG00000140853 8 4 33.33 29 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57070017 57070017 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 57070017 57070017 C A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known nonsense c.2633 p.S878* 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 11 17 60.71 45 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57070034 57070034 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 57070034 57070034 G A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.2650 p.D884N 0.988 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 30 11 26.83 31 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57075481 57075481 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57075481 57075481 C G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.3024 p.H1008Q 0.614 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 32 25 43.86 96 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57075481 57075481 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57075481 57075481 C G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.3024 p.H1008Q 0.614 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 33 14 29.79 43 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57104513 57104513 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 57104513 57104513 G A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known nonsense c.4650 p.W1550* 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 33 4 10.81 76 0 0.00 NLRC5 84166 genome.wustl.edu 37 16 57111636 57111636 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 57111636 57111636 C T SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.4925 p.S1642L 0.977 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 25 21 45.65 47 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5403371 5403371 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 5403371 5403371 C T SNP NLRP1 ENST00000568641 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRP1 HGNC ENSG00000091592 32 11 25.58 37 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5418805 5418805 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 5418805 5418805 G C SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.4090 p.P1364A 0.002 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 30 17 36.17 61 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5418837 5418837 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 5418837 5418837 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.4058 p.G1353V 1.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 77 9 10.47 69 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5424242 5424242 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5424242 5424242 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.3874 p.V1292L 0.021 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 18 7 28.00 23 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5424312 5424312 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5424312 5424312 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.3804 p.M1268I 0.021 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 42 5 10.64 38 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5436619 5436619 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 5436619 5436619 C G SNP NLRP1 ENST00000262467 human ensembl 70_37 -1 known missense c.3138 p.K1046N 0.003 NULL pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 14 10 41.67 15 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5440179 5440179 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5440179 5440179 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.2952 p.F984 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 14 9 39.13 57 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5456859 5456859 + Missense_Mutation SNP A A T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 5456859 5456859 A T SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.2375 p.V792D 0.504 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 48 11 18.64 44 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5463357 5463357 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 5463357 5463357 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.659 p.R220I 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 18 3 14.29 39 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5485360 5485360 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5485360 5485360 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.471 p.Y157 0.012 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 25 14 35.90 52 0 0.00 NLRP1 22861 genome.wustl.edu 37 17 5485360 5485360 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5485360 5485360 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.471 p.Y157 0.012 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 40 16 28.57 32 0 0.00 NLRP10 338322 genome.wustl.edu 37 11 7982282 7982282 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 7982282 7982282 G A SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.877 p.R293W 0.916 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 69 14 16.67 72 0 0.00 NLRP10 338322 genome.wustl.edu 37 11 7982618 7982618 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7982618 7982618 T C SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.541 p.T181A 0.831 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 19 6 24.00 68 0 0.00 NLRP10 338322 genome.wustl.edu 37 11 7982843 7982843 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 7982843 7982843 C T SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.316 p.V106M 0.387 NULL pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 38 15 28.30 34 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56297128 56297128 + Nonsense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56297128 56297128 T A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known nonsense c.2965 p.R989* 0.453 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 30 6 16.67 29 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56307519 56307519 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 56307519 56307519 G A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.2269 p.P757S 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 30 19 38.78 38 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56312940 56312940 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 56312940 56312940 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.2169 p.L723 0.050 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 69 18 20.69 112 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56320318 56320318 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 56320318 56320318 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.1658 p.R553Q 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 28 11 28.21 35 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56321256 56321256 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56321256 56321256 G A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.720 p.V240 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 37 24 39.34 43 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56321310 56321310 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 56321310 56321310 C G SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.666 p.K222N 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 78 28 26.42 115 0 0.00 NLRP11 204801 genome.wustl.edu 37 19 56321472 56321472 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56321472 56321472 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.504 p.L168 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 45 13 22.41 52 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54299115 54299115 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54299115 54299115 G C SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.3096 p.L1032 0.795 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 67 28 29.47 85 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54308691 54308691 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 19 54308691 54308691 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.2257 p.R753C 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 43 7 14.00 15 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54313719 54313719 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 54313719 54313719 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.1194 p.F398 1.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 24 20 45.45 56 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54314501 54314501 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 54314501 54314501 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.412 p.R138W 0.794 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 50 48 48.98 71 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54318218 54318218 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54318218 54318218 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.314 p.S105L 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 35 23 39.66 42 0 0.00 NLRP12 91662 genome.wustl.edu 37 19 54327207 54327207 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 54327207 54327207 G C SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.222 p.L74 0.004 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 200 47 18.95 227 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56422086 56422086 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56422086 56422086 C G SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.2125 p.D709H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 17 8 32.00 26 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56423094 56423094 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423094 56423094 C T SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.2089 p.E697K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 76 15 16.48 60 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56423238 56423238 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423238 56423238 C T SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.1945 p.D649N 0.874 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 56 17 23.29 49 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56423490 56423490 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423490 56423490 C G SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.1693 p.E565Q 0.535 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 41 15 26.79 41 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56424379 56424379 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56424379 56424379 G A SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known silent c.804 p.L268 0.523 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 17 30 63.83 54 0 0.00 NLRP13 126204 genome.wustl.edu 37 19 56436353 56436353 + Missense_Mutation SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56436353 56436353 T C SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.368 p.E123G 0.007 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 60 10 14.29 52 0 0.00 NLRP14 338323 genome.wustl.edu 37 11 7079068 7079068 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 7079068 7079068 G C SNP NLRP14 ENST00000299481 human ensembl 70_37 +1 known missense c.2452 p.E818Q 0.192 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 183 37 16.82 265 0 0.00 NLRP14 338323 genome.wustl.edu 37 11 7083724 7083724 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 7083724 7083724 C T SNP NLRP14 ENST00000299481 human ensembl 70_37 +1 known nonsense c.2965 p.Q989* 0.993 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 30 21 41.18 45 0 0.00 NLRP2 55655 genome.wustl.edu 37 19 55494074 55494074 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55494074 55494074 G A SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known silent c.1008 p.T336 0.002 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 36 17 32.08 38 0 0.00 NLRP2 55655 genome.wustl.edu 37 19 55494519 55494519 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55494519 55494519 G T SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known missense c.1453 p.D485Y 0.004 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 37 9 19.57 42 0 0.00 NLRP2 55655 genome.wustl.edu 37 19 55497541 55497541 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 55497541 55497541 G C SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known missense c.2224 p.D742H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 57 49 46.23 53 0 0.00 NLRP2 55655 genome.wustl.edu 37 19 55508776 55508776 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55508776 55508776 C T SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known nonsense c.2971 p.Q991* 0.322 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 57 46 44.66 68 0 0.00 NLRP3 114548 genome.wustl.edu 37 1 247582049 247582049 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 247582049 247582049 G T SNP NLRP3 ENST00000474792 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLRP3 HGNC ENSG00000162711 51 13 20.31 46 0 0.00 NLRP3 114548 genome.wustl.edu 37 1 247587315 247587315 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 247587315 247587315 C T SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known silent c.570 p.I190 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 29 4 12.12 22 0 0.00 NLRP3 114548 genome.wustl.edu 37 1 247587658 247587658 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 247587658 247587658 G A SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known missense c.913 p.D305N 0.998 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 29 9 23.68 38 0 0.00 NLRP3 114548 genome.wustl.edu 37 1 247588394 247588394 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 247588394 247588394 G A SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known missense c.1649 p.R550H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 32 24 42.11 53 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56369819 56369819 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369819 56369819 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.1060 p.E354K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 19 10 34.48 31 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56369832 56369833 + Frame_Shift_Ins INS - - A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369832 56369833 - A INS NLRP4 ENST00000301295 human ensembl 70_37 +1 known frame_shift_ins c.1073_1074 p.D360fs 0.357:0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 22 10 31.25 35 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56369837 56369837 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369837 56369837 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.1078 p.D360N 0.621 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 22 10 31.25 38 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56369915 56369915 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369915 56369915 G T SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known nonsense c.1156 p.E386* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 26 8 23.53 51 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56382215 56382215 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56382215 56382215 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2377 p.E793K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 50 7 12.28 85 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56382313 56382313 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56382313 56382313 A C SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2475 p.K825N 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 14 5 26.32 35 0 0.00 NLRP4 147945 genome.wustl.edu 37 19 56388409 56388409 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 56388409 56388409 C G SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2573 p.S858C 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 71 39 35.45 92 0 0.00 NLRP5 126206 genome.wustl.edu 37 19 56538691 56538691 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56538691 56538691 C T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known silent c.1092 p.F364 0.002 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 19 7 26.92 23 0 0.00 NLRP5 126206 genome.wustl.edu 37 19 56538760 56538760 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 56538760 56538760 G A SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known silent c.1161 p.P387 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 28 18 39.13 37 0 0.00 NLRP5 126206 genome.wustl.edu 37 19 56538828 56538828 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 56538828 56538828 G C SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known missense c.1229 p.R410T 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 39 9 18.75 37 0 0.00 NLRP5 126206 genome.wustl.edu 37 19 56539277 56539277 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56539277 56539277 G T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known nonsense c.1678 p.E560* 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 17 18 51.43 57 0 0.00 NLRP5 126206 genome.wustl.edu 37 19 56572782 56572782 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 56572782 56572782 C T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known missense c.3491 p.P1164L 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 48 17 25.76 76 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 280449 280449 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 280449 280449 G T SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known nonsense c.715 p.E239* 0.383 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 31 4 11.43 25 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 280785 280785 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 280785 280785 G T SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1051 p.D351Y 0.019 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 11 10 47.62 34 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 281202 281202 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 281202 281202 G C SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1468 p.E490Q 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 1 7 87.50 15 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 281517 281517 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 281517 281517 G C SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1783 p.E595Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 17 9 34.62 23 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 281661 281661 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 281661 281661 G A SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1927 p.E643K 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 24 9 26.47 24 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 281810 281810 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 281810 281810 G T SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.2076 p.K692N 0.108 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 25 4 13.79 33 0 0.00 NLRP6 171389 genome.wustl.edu 37 11 284302 284302 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 284302 284302 G A SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known silent c.2274 p.L758 0.691 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 42 23 35.38 61 0 0.00 NLRP7 199713 genome.wustl.edu 37 19 55449510 55449510 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55449510 55449510 G A SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known silent c.2115 p.L705 0.014 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 73 29 28.43 67 0 0.00 NLRP7 199713 genome.wustl.edu 37 19 55451669 55451669 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 55451669 55451669 G A SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known missense c.602 p.T201M 0.056 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 157 49 23.79 260 1 0.38 NLRP7 199713 genome.wustl.edu 37 19 55452863 55452863 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 55452863 55452863 T C SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known missense c.301 p.N101D 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 40 41 50.62 97 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56459460 56459460 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 56459460 56459460 C T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known silent c.192 p.L64 0.002 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 51 57 52.78 91 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56463942 56463942 + Nonsense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 56463942 56463942 G T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known nonsense c.406 p.G136* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 38 19 33.33 58 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56466659 56466659 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56466659 56466659 G A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.1235 p.R412K 0.031 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 55 22 28.57 27 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56477742 56477742 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 56477742 56477742 C T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.2377 p.L793F 0.071 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 53 6 10.17 51 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56487502 56487502 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 56487502 56487502 G A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known silent c.2709 p.L903 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 13 3 18.75 36 0 0.00 NLRP8 126205 genome.wustl.edu 37 19 56490823 56490823 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 56490823 56490823 C A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.2940 p.N980K 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 105 15 12.50 41 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56220299 56220299 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 56220299 56220299 C T SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known silent c.2955 p.K985 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 43 19 30.65 54 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56220385 56220385 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56220385 56220385 C A SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known nonsense c.2869 p.E957* 0.005 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 14 15 51.72 33 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56223837 56223837 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 56223837 56223837 C G SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2621 p.R874T 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 19 14 42.42 42 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56223837 56223837 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 56223837 56223837 C T SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2621 p.R874K 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 77 19 19.79 114 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56226588 56226588 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 56226588 56226588 C G SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2334 p.L778F 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 33 8 19.51 27 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56235489 56235489 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56235489 56235489 T C SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known silent c.2016 p.G672 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 8 5 38.46 30 0 0.00 NLRP9 338321 genome.wustl.edu 37 19 56244845 56244845 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 56244845 56244845 G A SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.352 p.H118Y 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 91 118 56.19 211 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119042084 119042084 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 119042084 119042084 C T SNP NLRX1 ENST00000468765 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLRX1 HGNC ENSG00000160703 51 13 20.00 64 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119045734 119045734 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 119045734 119045734 G C SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.1422 p.L474 0.988 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 37 13 26.00 49 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119050625 119050625 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 119050625 119050625 C G SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1895 p.S632C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 22 7 24.14 22 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119050694 119050694 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 119050694 119050694 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1964 p.A655V 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 21 4 16.00 23 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119050704 119050704 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 119050704 119050704 C G SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1974 p.I658M 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 11 5 31.25 25 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119050945 119050945 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119050945 119050945 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.2215 p.P739S 0.030 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 13 12 48.00 28 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119050953 119050953 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119050953 119050953 G C SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.2223 p.G741 0.703 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 13 10 43.48 23 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119052817 119052817 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119052817 119052817 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.2369 p.P790L 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 56 30 34.88 71 0 0.00 NLRX1 79671 genome.wustl.edu 37 11 119053983 119053983 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119053983 119053983 C A SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.2763 p.L921 0.967 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 116 19 14.07 202 1 0.49 NMD3 51068 genome.wustl.edu 37 3 160965077 160965077 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 160965077 160965077 G A SNP NMD3 ENST00000351193 human ensembl 70_37 +1 known missense c.1162 p.E388K 1.000 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 150 28 15.73 96 0 0.00 NMD3 51068 genome.wustl.edu 37 3 160968681 160968681 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 160968681 160968681 G A SNP NMD3 ENST00000351193 human ensembl 70_37 +1 known missense c.1495 p.A499T 1.000 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 27 5 15.62 40 0 0.00 NMD3 51068 genome.wustl.edu 37 3 160970625 160970625 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 3 160970625 160970625 G A SNP NMD3 ENST00000472947 human ensembl 70_37 +1 putative missense c.1561 p.A521T 0.001 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 20 15 42.86 29 0 0.00 NME5 8382 genome.wustl.edu 37 5 137464199 137464199 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 137464199 137464199 C T SNP NME5 ENST00000265191 human ensembl 70_37 -1 known silent c.405 p.A135 0.957 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 44 9 16.98 73 0 0.00 NME6 10201 genome.wustl.edu 37 3 48335898 48335898 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 48335898 48335898 C T SNP NME6 ENST00000444069 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors NME6 HGNC ENSG00000172113 22 3 12.00 38 0 0.00 NME6 10201 genome.wustl.edu 37 3 48337645 48337645 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 48337645 48337645 C T SNP NME6 ENST00000421967 human ensembl 70_37 -1 known missense c.221 p.R74H 0.996 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 25 5 16.67 57 0 0.00 NME7 29922 genome.wustl.edu 37 1 169292499 169292499 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 169292499 169292499 G C SNP NME7 ENST00000367811 human ensembl 70_37 -1 known missense c.134 p.T45S 0.003 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 23 18 43.90 51 0 0.00 NME7 29922 genome.wustl.edu 37 1 169293721 169293721 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 169293721 169293721 G A SNP NME7 ENST00000367811 human ensembl 70_37 -1 known silent c.21 p.F7 0.718 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 29 4 12.12 46 0 0.00 NME8 51314 genome.wustl.edu 37 7 37923939 37923939 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 37923939 37923939 C A SNP NME8 ENST00000426106 human ensembl 70_37 +1 known nonsense c.140 p.S47* 0.991 NULL NULL - no_errors NME8 HGNC ENSG00000086288 15 10 40.00 44 0 0.00 NME8 51314 genome.wustl.edu 37 7 37936490 37936490 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 37936490 37936490 G A SNP NME8 ENST00000199447 human ensembl 70_37 +1 known missense c.1563 p.M521I 0.839 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 16 18 52.94 33 0 0.00 NME8 51314 genome.wustl.edu 37 7 37936496 37936496 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 37936496 37936496 G A SNP NME8 ENST00000199447 human ensembl 70_37 +1 known silent c.1569 p.L523 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 46 7 13.21 60 0 0.00 NME8 51314 genome.wustl.edu 37 7 37936561 37936561 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 37936561 37936561 A C SNP NME8 ENST00000199447 human ensembl 70_37 +1 known missense c.1634 p.K545T 0.060 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 21 10 32.26 58 0 0.00 NME9 347736 genome.wustl.edu 37 3 138037001 138037001 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 138037001 138037001 G C SNP NME9 ENST00000333911 human ensembl 70_37 -1 known missense c.256 p.L86V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 39 5 11.36 15 0 0.00 NMI 9111 genome.wustl.edu 37 2 152132175 152132175 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 152132175 152132175 C G SNP NMI ENST00000243346 human ensembl 70_37 -1 known missense c.457 p.E153Q 0.035 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors NMI HGNC ENSG00000123609 18 20 52.63 42 0 0.00 NMNAT3 349565 genome.wustl.edu 37 3 139280016 139280016 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 139280016 139280016 C G SNP NMNAT3 ENST00000296202 human ensembl 70_37 -1 known missense c.595 p.E199Q 0.997 pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC ENSG00000163864 61 16 20.78 49 0 0.00 NMRAL1 57407 genome.wustl.edu 37 16 4511898 4511898 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4511898 4511898 G A SNP NMRAL1 ENST00000283429 human ensembl 70_37 -1 known silent c.783 p.F261 1.000 NULL pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 57 20 25.97 72 0 0.00 NMRK1 54981 genome.wustl.edu 37 9 77676397 77676397 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 77676397 77676397 G A SNP NMRK1 ENST00000482537 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NMRK1 HGNC ENSG00000106733 21 15 41.67 47 0 0.00 NMS 129521 genome.wustl.edu 37 2 101097609 101097609 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 101097609 101097609 C T SNP NMS ENST00000376865 human ensembl 70_37 +1 known nonsense c.394 p.R132* 0.042 pfam_NMU_C pfam_NMU_C - no_errors NMS HGNC ENSG00000204640 117 34 22.52 164 0 0.00 NMT1 4836 genome.wustl.edu 37 17 43138707 43138707 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 43138707 43138707 G A SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known missense c.10 p.E4K 1.000 NULL pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 25 11 30.56 38 0 0.00 NMT1 4836 genome.wustl.edu 37 17 43163889 43163889 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 43163889 43163889 C T SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known missense c.254 p.P85L 1.000 pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 17 3 15.00 23 0 0.00 NMT1 4836 genome.wustl.edu 37 17 43171154 43171154 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 43171154 43171154 C T SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known silent c.487 p.L163 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 70 8 10.26 66 0 0.00 NMT1 4836 genome.wustl.edu 37 17 43180327 43180327 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 43180327 43180327 G A SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known silent c.1002 p.K334 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 23 8 25.81 37 0 0.00 NMT2 9397 genome.wustl.edu 37 10 15151806 15151806 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 15151806 15151806 C G SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1464 p.L488F 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 23 8 25.81 31 0 0.00 NMT2 9397 genome.wustl.edu 37 10 15151821 15151821 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 15151821 15151821 G C SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1449 p.F483L 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 19 7 26.92 32 0 0.00 NMT2 9397 genome.wustl.edu 37 10 15161425 15161425 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 15161425 15161425 G T SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1180 p.H394N 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 54 20 26.67 55 0 0.00 NMT2 9397 genome.wustl.edu 37 10 15175359 15175359 + Missense_Mutation SNP T T G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 15175359 15175359 T G SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.488 p.E163A 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 32 10 23.81 77 0 0.00 NNMT 4837 genome.wustl.edu 37 11 114167330 114167330 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 114167330 114167330 C T SNP NNMT ENST00000299964 human ensembl 70_37 +1 known missense c.52 p.R18W 0.097 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 34 15 30.61 73 0 0.00 NNMT 4837 genome.wustl.edu 37 11 114183193 114183193 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 114183193 114183193 C A SNP NNMT ENST00000299964 human ensembl 70_37 +1 known silent c.789 p.P263 0.029 NULL pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 21 4 16.00 31 0 0.00 NNT 23530 genome.wustl.edu 37 5 43644761 43644761 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 43644761 43644761 C T SNP NNT ENST00000264663 human ensembl 70_37 +1 known nonsense c.1147 p.Q383* 1.000 tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 20 4 16.67 38 0 0.00 NNT 23530 genome.wustl.edu 37 5 43659317 43659317 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 43659317 43659317 C T SNP NNT ENST00000264663 human ensembl 70_37 +1 known silent c.2499 p.V833 0.015 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 109 46 29.68 103 0 0.00 NOA1 84273 genome.wustl.edu 37 4 57829628 57829628 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 57829628 57829628 C G SNP NOA1 ENST00000264230 human ensembl 70_37 -1 known missense c.2085 p.K695N 0.000 NULL NULL - no_errors NOA1 HGNC ENSG00000084092 54 13 19.40 53 0 0.00 NOA1 84273 genome.wustl.edu 37 4 57829794 57829794 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57829794 57829794 C G SNP NOA1 ENST00000264230 human ensembl 70_37 -1 known missense c.1919 p.R640T 0.355 NULL NULL - no_errors NOA1 HGNC ENSG00000084092 16 13 44.83 48 0 0.00 NOB1 28987 genome.wustl.edu 37 16 69776286 69776286 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 69776286 69776286 C G SNP NOB1 ENST00000268802 human ensembl 70_37 -1 known silent c.1188 p.R396 0.983 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 83 34 29.06 96 0 0.00 NOB1 28987 genome.wustl.edu 37 16 69786243 69786243 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 69786243 69786243 G A SNP NOB1 ENST00000268802 human ensembl 70_37 -1 known silent c.228 p.Y76 0.930 smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 49 33 40.24 57 0 0.00 NOC2L 26155 genome.wustl.edu 37 1 891554 891554 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 891554 891554 C T SNP NOC2L ENST00000327044 human ensembl 70_37 -1 known silent c.528 p.A176 0.043 NULL pfam_UPF0120,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 33 14 29.17 56 0 0.00 NOC2L 26155 genome.wustl.edu 37 1 894355 894355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 894355 894355 C G SNP NOC2L ENST00000327044 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.000 NULL pfam_UPF0120,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 12 11 47.83 18 0 0.00 NOC3L 64318 genome.wustl.edu 37 10 96100046 96100046 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 96100046 96100046 G C SNP NOC3L ENST00000371350 human ensembl 70_37 -1 known missense c.1767 p.F589L 0.999 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 45 21 31.82 73 0 0.00 NOC3L 64318 genome.wustl.edu 37 10 96100229 96100229 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96100229 96100229 G A SNP NOC3L ENST00000371350 human ensembl 70_37 -1 known missense c.1669 p.H557Y 1.000 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 9 6 40.00 26 0 0.00 NOC3L 64318 genome.wustl.edu 37 10 96117815 96117815 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96117815 96117815 G T SNP NOC3L ENST00000463649 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC ENSG00000173145 18 3 14.29 30 0 0.00 NOC4L 79050 genome.wustl.edu 37 12 132636945 132636945 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 132636945 132636945 G A SNP NOC4L ENST00000330579 human ensembl 70_37 +1 known silent c.1550 p.*517 0.998 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 8 5 38.46 11 0 0.00 NOD1 10392 genome.wustl.edu 37 7 30468996 30468996 + Missense_Mutation SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 7 30468996 30468996 T C SNP NOD1 ENST00000222823 human ensembl 70_37 -1 known missense c.2783 p.E928G 0.999 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 22 11 33.33 54 0 0.00 NOD2 64127 genome.wustl.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 50733855 50733855 C G SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.530 p.P177R 0.295 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 29 17 36.96 42 0 0.00 NOD2 64127 genome.wustl.edu 37 16 50744657 50744657 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 16 50744657 50744657 G C SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.835 p.E279Q 0.997 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 40 16 28.57 94 0 0.00 NOD2 64127 genome.wustl.edu 37 16 50745398 50745399 + Frame_Shift_Ins INS - - C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 50745398 50745399 - C INS NOD2 ENST00000300589 human ensembl 70_37 +1 known frame_shift_ins c.1576_1577 p.D529fs 0.967:0.928 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 13 10 43.48 29 0 0.00 NOD2 64127 genome.wustl.edu 37 16 50745680 50745680 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50745680 50745680 G A SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.1858 p.D620N 0.492 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 44 18 29.03 76 0 0.00 NOD2 64127 genome.wustl.edu 37 16 50750827 50750827 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 50750827 50750827 G A SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.2572 p.G858S 0.994 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 24 14 36.84 37 0 0.00 NODAL 4838 genome.wustl.edu 37 10 72195141 72195141 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 72195141 72195141 C A SNP NODAL ENST00000287139 human ensembl 70_37 -1 known missense c.792 p.W264C 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 48 27 36.00 87 0 0.00 NODAL 4838 genome.wustl.edu 37 10 72195205 72195205 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 72195205 72195205 C G SNP NODAL ENST00000287139 human ensembl 70_37 -1 known missense c.728 p.R243T 0.995 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 27 16 37.21 46 0 0.00 NOL10 79954 genome.wustl.edu 37 2 10729233 10729233 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 10729233 10729233 C G SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known missense c.1780 p.E594Q 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 60 20 25.00 69 0 0.00 NOL10 79954 genome.wustl.edu 37 2 10729803 10729803 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 10729803 10729803 C T SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known silent c.1497 p.E499 1.000 pfam_NUC153 pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 13 11 45.83 39 0 0.00 NOL10 79954 genome.wustl.edu 37 2 10815997 10815997 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 10815997 10815997 C T SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known missense c.212 p.G71E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 18 3 14.29 20 0 0.00 NOL10 79954 genome.wustl.edu 37 2 10829970 10829970 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 10829970 10829970 G A SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 19 15 44.12 30 0 0.00 NOL11 25926 genome.wustl.edu 37 17 65714108 65714108 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 65714108 65714108 G C SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known silent c.45 p.L15 0.977 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 21 5 19.23 45 0 0.00 NOL11 25926 genome.wustl.edu 37 17 65717522 65717522 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 65717522 65717522 C G SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known nonsense c.341 p.S114* 0.980 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 81 17 17.35 87 0 0.00 NOL11 25926 genome.wustl.edu 37 17 65717632 65717632 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 65717632 65717632 G A SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 52 23 30.67 45 0 0.00 NOL11 25926 genome.wustl.edu 37 17 65734032 65734032 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 65734032 65734032 G T SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known missense c.1473 p.Q491H 0.991 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 35 5 12.50 43 0 0.00 NOL12 79159 genome.wustl.edu 37 22 38087189 38087189 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38087189 38087189 C T SNP NOL12 ENST00000359114 human ensembl 70_37 +1 known missense c.488 p.S163F 0.856 NULL pfam_Nucleolar_protein_12 - no_errors NOL12 HGNC ENSG00000256872 51 11 17.74 52 0 0.00 NOL3 8996 genome.wustl.edu 37 16 67207831 67207831 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 67207831 67207831 G C SNP NOL3 ENST00000564053 human ensembl 70_37 +1 putative missense c.60 p.Q20H 0.000 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC ENSG00000140939 7 7 50.00 9 0 0.00 NOL3 8996 genome.wustl.edu 37 16 67208229 67208229 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 67208229 67208229 G C SNP NOL3 ENST00000568146 human ensembl 70_37 +1 known missense c.157 p.D53H 0.320 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC ENSG00000140939 23 5 17.24 24 0 0.00 NOL4 8715 genome.wustl.edu 37 18 31432886 31432886 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 31432886 31432886 C A SNP NOL4 ENST00000261592 human ensembl 70_37 -1 known missense c.1837 p.V613F 0.999 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 42 13 23.64 69 0 0.00 NOL4 8715 genome.wustl.edu 37 18 31599440 31599440 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 31599440 31599440 C T SNP NOL4 ENST00000261592 human ensembl 70_37 -1 known missense c.898 p.D300N 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 49 15 23.44 100 0 0.00 NOL6 65083 genome.wustl.edu 37 9 33463870 33463870 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 33463870 33463870 C T SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.2953 p.E985K 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 40 7 14.89 59 0 0.00 NOL6 65083 genome.wustl.edu 37 9 33465793 33465793 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 33465793 33465793 C T SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.2467 p.A823T 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 22 14 38.89 47 0 0.00 NOL6 65083 genome.wustl.edu 37 9 33466916 33466916 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 33466916 33466916 C G SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known silent c.1944 p.L648 0.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 117 40 25.48 145 0 0.00 NOL6 65083 genome.wustl.edu 37 9 33469506 33469506 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33469506 33469506 G A SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.718 p.R240W 0.998 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 25 8 23.53 43 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95063870 95063870 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 95063870 95063870 G C SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.3138 p.F1046L 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 38 21 35.59 80 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95073484 95073484 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95073484 95073484 C G SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.2416 p.E806Q 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 93 19 16.96 53 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95077640 95077640 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95077640 95077640 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1267 p.H423Y 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 12 2 14.29 14 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95077645 95077645 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95077645 95077645 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1262 p.S421F 0.439 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 12 3 20.00 14 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95077787 95077787 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 95077787 95077787 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1120 p.R374C 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 7 12 63.16 22 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95078028 95078028 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 95078028 95078028 C G SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.879 p.K293N 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 21 24 53.33 33 0 0.00 NOL8 55035 genome.wustl.edu 37 9 95082610 95082610 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 95082610 95082610 C G SNP NOL8 ENST00000538215 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NOL8 HGNC ENSG00000198000 47 11 18.97 34 0 0.00 NOL9 79707 genome.wustl.edu 37 1 6586036 6586036 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 6586036 6586036 C T SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known missense c.1987 p.V663I 0.455 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC ENSG00000162408 68 24 26.09 120 0 0.00 NOL9 79707 genome.wustl.edu 37 1 6586866 6586866 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 6586866 6586866 C G SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known missense c.1849 p.E617Q 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC ENSG00000162408 42 20 32.26 60 0 0.00 NOL9 79707 genome.wustl.edu 37 1 6614166 6614166 + Splice_Site SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 6614166 6614166 C T SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known splice_site c.396+1 e1+1 0.751 - - - no_errors NOL9 HGNC ENSG00000162408 15 10 40.00 26 0 0.00 NOLC1 9221 genome.wustl.edu 37 10 103916809 103916809 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 103916809 103916809 G C SNP NOLC1 ENST00000405356 human ensembl 70_37 +1 known missense c.154 p.D52H 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 296 90 23.32 481 0 0.00 NOLC1 9221 genome.wustl.edu 37 10 103920264 103920264 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 103920264 103920264 G T SNP NOLC1 ENST00000405356 human ensembl 70_37 +1 known missense c.1185 p.K395N 0.627 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 11 6 35.29 29 0 0.00 NOM1 64434 genome.wustl.edu 37 7 156755773 156755773 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 156755773 156755773 G C SNP NOM1 ENST00000275820 human ensembl 70_37 +1 known missense c.1815 p.Q605H 0.605 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 18 9 33.33 24 0 0.00 NOM1 64434 genome.wustl.edu 37 7 156759085 156759085 + Missense_Mutation SNP A A T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 7 156759085 156759085 A T SNP NOM1 ENST00000275820 human ensembl 70_37 +1 known missense c.2155 p.R719W 0.998 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 66 9 12.00 99 0 0.00 NOM1 64434 genome.wustl.edu 37 7 156759087 156759087 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 156759087 156759087 G C SNP NOM1 ENST00000275820 human ensembl 70_37 +1 known missense c.2157 p.R719S 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 49 21 30.00 47 0 0.00 NOMO2 283820 genome.wustl.edu 37 16 18532165 18532165 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 18532165 18532165 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known missense c.2195 p.R732K 0.033 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 201 24 10.67 298 0 0.00 NOMO2 283820 genome.wustl.edu 37 16 18532172 18532172 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 18532172 18532172 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known missense c.2188 p.E730K 0.751 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 204 25 10.92 301 0 0.00 NOMO2 283820 genome.wustl.edu 37 16 18542930 18542930 + Splice_Site SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 18542930 18542930 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known splice_site c.1396-1 e13-1 1.000 - - - no_errors NOMO2 HGNC ENSG00000185164 166 23 12.11 195 0 0.00 NONO 4841 genome.wustl.edu 37 X 70516458 70516458 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70516458 70516458 G C SNP NONO ENST00000276079 human ensembl 70_37 +1 known missense c.694 p.D232H 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 45 14 23.73 76 0 0.00 NONO 4841 genome.wustl.edu 37 X 70517280 70517280 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70517280 70517280 G T SNP NONO ENST00000276079 human ensembl 70_37 +1 known nonsense c.997 p.E333* 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 4 8 66.67 13 0 0.00 NONO 4841 genome.wustl.edu 37 X 70520933 70520933 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 70520933 70520933 G C SNP NONO ENST00000490044 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors NONO HGNC ENSG00000147140 10 39 78.00 84 0 0.00 NONO 4841 genome.wustl.edu 37 X 70521007 70521007 + RNA SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70521007 70521007 T A SNP NONO ENST00000490044 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NONO HGNC ENSG00000147140 29 12 29.27 75 0 0.00 NOP10 55505 genome.wustl.edu 37 15 34634298 34634298 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 34634298 34634298 C G SNP NOP10 ENST00000328848 human ensembl 70_37 -1 known silent c.66 p.P22 0.000 pfam_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC ENSG00000182117 53 25 32.05 60 0 0.00 NOP14 8602 genome.wustl.edu 37 4 2939958 2939958 + Frame_Shift_Del DEL A A - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 2939958 2939958 A - DEL NOP14 ENST00000398071 human ensembl 70_37 -1 known frame_shift_del c.2403 p.F801fs 0.010 NULL pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 11 7 38.89 11 0 0.00 NOP14 8602 genome.wustl.edu 37 4 2940996 2940996 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 2940996 2940996 C T SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.2393 p.R798H 0.986 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 17 13 43.33 26 0 0.00 NOP14 8602 genome.wustl.edu 37 4 2949269 2949269 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 2949269 2949269 T A SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.1483 p.I495F 0.348 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 15 9 37.50 34 0 0.00 NOP14 8602 genome.wustl.edu 37 4 2951703 2951703 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2951703 2951703 C G SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.1240 p.A414P 0.001 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 58 47 44.76 79 0 0.00 NOP2 4839 genome.wustl.edu 37 12 6666539 6666539 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 6666539 6666539 C T SNP NOP2 ENST00000322166 human ensembl 70_37 -1 known missense c.2059 p.E687K 0.000 pfam_P120R pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 112 41 26.80 125 0 0.00 NOP2 4839 genome.wustl.edu 37 12 6669685 6669685 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6669685 6669685 C T SNP NOP2 ENST00000322166 human ensembl 70_37 -1 known silent c.1488 p.L496 0.997 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 14 6 30.00 17 0 0.00 NOP56 10528 genome.wustl.edu 37 20 2634826 2634826 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2634826 2634826 G C SNP NOP56 ENST00000494697 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NOP56 HGNC ENSG00000101361 64 15 18.99 78 0 0.00 NOP56 10528 genome.wustl.edu 37 20 2635525 2635525 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 2635525 2635525 G A SNP NOP56 ENST00000329276 human ensembl 70_37 +1 known missense c.501 p.M167I 1.000 pfam_NOSIC,smart_NOSIC pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 45 45 50.00 95 0 0.00 NOP56 10528 genome.wustl.edu 37 20 2635849 2635849 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 20 2635849 2635849 G A SNP NOP56 ENST00000484998 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors NOP56 HGNC ENSG00000101361 17 14 45.16 47 0 0.00 NOP56 10528 genome.wustl.edu 37 20 2636924 2636924 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2636924 2636924 G C SNP NOP56 ENST00000480447 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NOP56 HGNC ENSG00000101361 8 4 33.33 11 0 0.00 NOP58 51602 genome.wustl.edu 37 2 203147126 203147126 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 203147126 203147126 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.228 p.L76 0.944 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 90 36 28.35 149 0 0.00 NOP58 51602 genome.wustl.edu 37 2 203149076 203149076 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 203149076 203149076 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 78 34 30.36 109 0 0.00 NOP58 51602 genome.wustl.edu 37 2 203155173 203155173 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 203155173 203155173 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.627 p.Q209 1.000 pfam_NOSIC,smart_NOSIC pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 40 12 23.08 55 0 0.00 NOP58 51602 genome.wustl.edu 37 2 203155898 203155898 + Nonsense_Mutation SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 203155898 203155898 G T SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known nonsense c.685 p.E229* 1.000 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 30 7 18.92 20 0 0.00 NOP58 51602 genome.wustl.edu 37 2 203160408 203160408 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 203160408 203160408 A C SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known missense c.919 p.N307H 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 15 20 57.14 40 0 0.00 NOP9 161424 genome.wustl.edu 37 14 24769346 24769346 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 24769346 24769346 G A SNP NOP9 ENST00000267425 human ensembl 70_37 +1 known silent c.186 p.L62 0.942 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 27 3 10.00 45 0 0.00 NOP9 161424 genome.wustl.edu 37 14 24774255 24774255 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 24774255 24774255 C T SNP NOP9 ENST00000267425 human ensembl 70_37 +1 known missense c.1865 p.A622V 0.901 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 40 9 18.37 84 0 0.00 NOS1 4842 genome.wustl.edu 37 12 117658014 117658014 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 117658014 117658014 C A SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known nonsense c.4036 p.E1346* 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 198 24 10.81 268 0 0.00 NOS1 4842 genome.wustl.edu 37 12 117710211 117710211 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 117710211 117710211 G A SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known silent c.1818 p.N606 0.991 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 26 16 38.10 58 0 0.00 NOS1 4842 genome.wustl.edu 37 12 117749369 117749369 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 117749369 117749369 G C SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known missense c.754 p.L252V 0.987 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 70 18 20.45 86 0 0.00 NOS1AP 9722 genome.wustl.edu 37 1 162326791 162326791 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 162326791 162326791 G A SNP NOS1AP ENST00000361897 human ensembl 70_37 +1 known silent c.804 p.R268 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC ENSG00000198929 18 8 30.77 28 0 0.00 NOS1AP 9722 genome.wustl.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 162326888 162326890 CAG - DEL NOS1AP ENST00000361897 human ensembl 70_37 +1 known in_frame_del c.901_903 p.Q304in_frame_del 1.000:1.000:1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC ENSG00000198929 13 3 18.75 24 0 0.00 NOS2 4843 genome.wustl.edu 37 17 26087701 26087701 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26087701 26087701 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known silent c.2958 p.I986 0.900 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 133 57 30.00 181 0 0.00 NOS2 4843 genome.wustl.edu 37 17 26089878 26089878 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 26089878 26089878 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known missense c.2746 p.H916Y 0.195 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 111 30 21.28 110 0 0.00 NOS2 4843 genome.wustl.edu 37 17 26100236 26100236 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 26100236 26100236 C T SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known missense c.1510 p.E504K 0.659 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 45 25 35.71 76 0 0.00 NOS2 4843 genome.wustl.edu 37 17 26108115 26108115 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 26108115 26108115 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known nonsense c.811 p.Q271* 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 141 32 18.50 168 0 0.00 NOS2 4843 genome.wustl.edu 37 17 26108139 26108139 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 26108139 26108139 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known nonsense c.787 p.Q263* 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 32 12 27.27 38 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150690919 150690919 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 150690919 150690919 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.28 p.E10K 1.000 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 21 8 27.59 51 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150698430 150698430 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 150698430 150698430 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.1345 p.V449M 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 13 14 51.85 25 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150699020 150699020 + Silent SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 150699020 150699020 G T SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known silent c.1614 p.L538 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 33 5 13.16 36 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150706116 150706116 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150706116 150706116 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known silent c.2211 p.L737 1.000 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 40 30 42.86 58 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150706129 150706129 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150706129 150706129 G T SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known nonsense c.2224 p.E742* 0.887 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 37 32 46.38 67 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150707711 150707711 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 150707711 150707711 G C SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.2712 p.K904N 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 37 12 24.49 56 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150707745 150707745 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 150707745 150707745 G T SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known nonsense c.2746 p.E916* 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 32 14 30.43 49 0 0.00 NOS3 4846 genome.wustl.edu 37 7 150709545 150709545 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150709545 150709545 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.3091 p.D1031N 0.997 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 34 8 19.05 22 0 0.00 NOSIP 51070 genome.wustl.edu 37 19 50059841 50059841 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50059841 50059841 C G SNP NOSIP ENST00000391853 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 pirsf_Nitric_oxide_synth-interacting pirsf_Nitric_oxide_synth-interacting - no_errors NOSIP HGNC ENSG00000142546 64 21 24.71 79 0 0.00 NOSTRIN 115677 genome.wustl.edu 37 2 169699594 169699594 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 169699594 169699594 G A SNP NOSTRIN ENST00000444448 human ensembl 70_37 +1 known silent c.597 p.L199 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 52 23 30.67 69 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139393593 139393594 + Frame_Shift_Ins INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 139393593 139393594 - A INS NOTCH1 ENST00000277541 human ensembl 70_37 -1 known frame_shift_ins c.6053_6052 p.H2018fs 0.998:0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 33 13 28.26 23 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139393593 139393594 + Frame_Shift_Ins INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 139393593 139393594 - A INS NOTCH1 ENST00000277541 human ensembl 70_37 -1 known frame_shift_ins c.6053_6052 p.H2018fs 0.998:0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 68 33 32.67 85 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139397773 139397773 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139397773 139397773 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known silent c.5028 p.V1676 0.972 pfam_Notch_NODP_dom,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 88 21 19.27 121 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139399191 139399191 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 139399191 139399191 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4952 p.S1651L 0.005 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 23 8 25.81 24 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139399461 139399461 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 9 139399461 139399461 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4682 p.C1561Y 1.000 superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 3 7 70.00 8 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139399781 139399781 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 139399781 139399781 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4567 p.R1523C 0.353 smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 8 4 33.33 9 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139399887 139399887 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139399887 139399887 C G SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4461 p.W1487C 1.000 smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 9 24 72.73 40 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139400124 139400124 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139400124 139400124 C A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4224 p.E1408D 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 6 20 76.92 31 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139400126 139400126 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139400126 139400126 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4222 p.E1408K 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 6 20 76.92 30 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139401856 139401856 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139401856 139401856 C G SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.3544 p.E1182Q 0.998 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 0 17 100.00 21 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139402806 139402806 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 139402806 139402806 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.3203 p.C1068Y 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 84 14 14.29 79 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139410136 139410136 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 139410136 139410136 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1702 p.D568N 0.503 smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 33 41 55.41 43 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139412245 139412245 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 139412245 139412245 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1400 p.C467Y 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 30 16 34.78 33 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139412345 139412345 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 139412345 139412345 C A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1300 p.G434C 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 23 5 17.86 30 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139412684 139412684 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 139412684 139412684 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1160 p.C387Y 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 51 27 34.62 86 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139413262 139413262 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139413262 139413262 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.880 p.E294K 0.998 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 53 41 43.62 81 0 0.00 NOTCH1 4851 genome.wustl.edu 37 9 139418380 139418380 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139418380 139418380 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known silent c.192 p.L64 0.997 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 8 5 38.46 15 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120458064 120458064 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 120458064 120458064 A C SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.7281 p.S2427R 0.994 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 112 24 17.65 169 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120458453 120458453 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 120458453 120458453 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.6892 p.R2298W 0.981 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 39 12 23.53 39 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120458453 120458453 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 120458453 120458453 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.6892 p.R2298W 0.981 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 22 19 46.34 33 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120462868 120462868 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 120462868 120462868 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known silent c.5463 p.V1821 1.000 pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 23 8 25.81 48 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120468178 120468178 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 120468178 120468178 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.4261 p.P1421S 0.165 pirsf_Notch,smart_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 18 10 35.71 52 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120468354 120468354 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 120468354 120468354 G C SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.4085 p.S1362C 0.005 pirsf_Notch,smart_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 65 26 28.57 101 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120497829 120497829 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 120497829 120497829 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.2053 p.E685Q 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 63 19 22.89 75 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120539657 120539657 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 120539657 120539657 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.714 p.Q238H 1.000 pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 38 10 20.83 50 0 0.00 NOTCH2 4853 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 70_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 17 8 32.00 9 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15271474 15271474 + Nonstop_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15271474 15271474 C G SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonstop c.6965 p.*2322S 1.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 35 23 39.66 56 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15272415 15272415 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 15272415 15272415 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.6024 p.P2008 0.029 superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 23 10 30.30 56 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15276805 15276805 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 15276805 15276805 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.5460 p.I1820 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 17 12 41.38 38 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15280981 15280981 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 15280981 15280981 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.5115 p.K1705 1.000 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 35 13 26.53 68 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15291846 15291846 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 15291846 15291846 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2920 p.G974R 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 28 9 24.32 32 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15291882 15291882 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 15291882 15291882 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2884 p.E962K 0.613 smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 21 6 22.22 42 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15292550 15292550 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 15292550 15292550 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2629 p.P877S 0.005 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 85 26 23.21 143 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15295256 15295256 + Nonsense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 15295256 15295256 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.2416 p.R806* 0.115 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 35 4 10.26 50 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15299079 15299079 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 19 15299079 15299079 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.1459 p.R487* 0.967 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 20 14 41.18 48 0 0.00 NOTCH3 4854 genome.wustl.edu 37 19 15299118 15299118 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 15299118 15299118 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.1420 p.Q474* 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 49 28 36.36 76 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32163297 32163297 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 32163297 32163297 C G SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.5929 p.E1977Q 0.449 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 60 41 40.59 106 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32163434 32163434 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32163434 32163434 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.5792 p.R1931Q 0.001 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 22 11 33.33 36 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32163526 32163526 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32163526 32163526 G C SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.5700 p.L1900 0.000 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 16 8 33.33 20 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32169256 32169256 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32169256 32169256 G A SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.3777 p.C1259 1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 40 7 14.89 79 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32170026 32170026 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 32170026 32170026 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.3582 p.P1194 0.296 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 75 17 18.48 40 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32178591 32178591 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 32178591 32178591 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.2803 p.E935K 0.046 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 39 6 13.33 36 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32183067 32183067 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 32183067 32183067 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.1957 p.D653N 0.186 smart_EG-like_dom,pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 94 37 28.24 79 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32188317 32188317 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 32188317 32188317 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.1024 p.V342M 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 20 26 56.52 50 0 0.00 NOTCH4 4855 genome.wustl.edu 37 6 32190320 32190320 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 6 32190320 32190320 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.419 p.R140H 0.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 38 20 34.48 34 0 0.00 NOTO 344022 genome.wustl.edu 37 2 73430134 73430134 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 73430134 73430134 C T SNP NOTO ENST00000398468 human ensembl 70_37 +1 known missense c.340 p.R114C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NOTO HGNC ENSG00000214513 4 4 50.00 15 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 26918010 26918011 + Frame_Shift_Del DEL GT GT - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918010 26918011 GT - DEL NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_del c.679_678 p.E226fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 64 13 16.88 55 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 26918012 26918013 + Frame_Shift_Ins INS - - GACAACC TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918012 26918013 - GACAACC INS NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_ins c.677_676 p.E226fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 62 13 17.33 53 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 26918015 26918015 + Frame_Shift_Del DEL C C - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918015 26918015 C - DEL NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_del c.674 p.G225fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 59 13 18.06 51 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 26918136 26918136 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 26918136 26918136 G C SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.553 p.L185V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 12 5 29.41 9 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 26949239 26949239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 26949239 26949239 C G SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.391 p.E131Q 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 23 20 46.51 49 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 27018905 27018905 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 27018905 27018905 G C SNP NOVA1 ENST00000483536 human ensembl 70_37 -1 known missense c.363 p.D121E 1.000 NULL pfam_KH_dom_type_1,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 19 6 24.00 57 0 0.00 NOVA1 4857 genome.wustl.edu 37 14 27066575 27066575 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 27066575 27066575 G A SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.68 p.P23L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 73 33 31.13 107 0 0.00 NOX1 27035 genome.wustl.edu 37 X 100105261 100105261 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100105261 100105261 G A SNP NOX1 ENST00000372966 human ensembl 70_37 -1 known missense c.1012 p.H338Y 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 10 13 56.52 39 0 0.00 NOX1 27035 genome.wustl.edu 37 X 100118508 100118508 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 100118508 100118508 C T SNP NOX1 ENST00000372966 human ensembl 70_37 -1 known missense c.218 p.R73H 0.994 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 44 14 24.14 52 0 0.00 NOX3 50508 genome.wustl.edu 37 6 155750143 155750143 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 155750143 155750143 C T SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.930 p.M310I 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 137 37 21.26 203 0 0.00 NOX3 50508 genome.wustl.edu 37 6 155761194 155761194 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 155761194 155761194 C A SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.564 p.M188I 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 15 14 48.28 27 0 0.00 NOX3 50508 genome.wustl.edu 37 6 155764498 155764498 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 155764498 155764498 G C SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.395 p.S132C 0.867 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 51 14 21.54 82 0 0.00 NOX3 50508 genome.wustl.edu 37 6 155764527 155764527 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 155764527 155764527 G A SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known silent c.366 p.F122 0.997 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 43 9 17.31 58 0 0.00 NOX3 50508 genome.wustl.edu 37 6 155775958 155775958 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 155775958 155775958 C T SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.242 p.R81K 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 30 11 26.83 21 0 0.00 NOX4 50507 genome.wustl.edu 37 11 89133529 89133529 + Nonsense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 89133529 89133529 C A SNP NOX4 ENST00000413594 human ensembl 70_37 -1 known nonsense c.928 p.G310* 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 26 3 10.34 39 0 0.00 NOX4 50507 genome.wustl.edu 37 11 89155129 89155129 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 89155129 89155129 G A SNP NOX4 ENST00000413594 human ensembl 70_37 -1 known silent c.633 p.F211 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 6 3 33.33 39 0 0.00 NOX5 79400 genome.wustl.edu 37 15 69335090 69335090 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 69335090 69335090 G C SNP NOX5 ENST00000388866 human ensembl 70_37 +1 known missense c.1592 p.G531A 0.009 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NOX5 HGNC ENSG00000255346 53 18 25.35 83 0 0.00 NOXA1 10811 genome.wustl.edu 37 9 140320724 140320724 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 9 140320724 140320724 G A SNP NOXA1 ENST00000341349 human ensembl 70_37 +1 known missense c.202 p.D68N 0.997 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 53 6 10.17 55 0 0.00 NOXO1 124056 genome.wustl.edu 37 16 2029514 2029514 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2029514 2029514 C T SNP NOXO1 ENST00000397280 human ensembl 70_37 -1 known missense c.745 p.E249K 0.407 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 32 24 42.86 73 0 0.00 NOXRED1 122945 genome.wustl.edu 37 14 77872322 77872322 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 77872322 77872322 G C SNP NOXRED1 ENST00000380835 human ensembl 70_37 -1 known missense c.839 p.S280C 0.003 NULL pfam_NADP_OxRdtase_F420 - no_errors NOXRED1 HGNC ENSG00000165555 41 19 31.67 54 0 0.00 NOXRED1 122945 genome.wustl.edu 37 14 77873163 77873163 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 77873163 77873163 C T SNP NOXRED1 ENST00000380835 human ensembl 70_37 -1 known missense c.586 p.E196K 0.000 NULL pfam_NADP_OxRdtase_F420 - no_errors NOXRED1 HGNC ENSG00000165555 40 20 33.33 47 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24921288 24921288 + Missense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 24921288 24921288 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.274 p.L92M 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 26 10 27.78 39 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24921639 24921639 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 24921639 24921639 G A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.625 p.E209K 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 35 12 25.53 40 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24922056 24922056 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 24922056 24922056 C G SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.1042 p.R348G 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 18 6 25.00 13 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24922087 24922087 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 24922087 24922087 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.1073 p.P358H 0.007 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 32 4 11.11 47 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24922666 24922666 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 24922666 24922666 C T SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.1652 p.T551M 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 56 11 16.42 53 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24922847 24922847 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 24922847 24922847 G A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.1833 p.Q611 0.006 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 5 20 80.00 37 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24923096 24923096 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 24923096 24923096 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.2082 p.P694 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 23 76 76.77 184 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24923096 24923096 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 24923096 24923096 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.2082 p.P694 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 9 30 76.92 49 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24923152 24923152 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 24923152 24923152 C T SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2138 p.S713F 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 15 12 44.44 25 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24923236 24923236 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 24923236 24923236 C T SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2222 p.S741L 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 21 9 30.00 41 0 0.00 NPAP1 23742 genome.wustl.edu 37 15 24923533 24923533 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 24923533 24923533 T C SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2519 p.F840S 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 30 26 46.43 71 0 0.00 NPAS1 4861 genome.wustl.edu 37 19 47535576 47535576 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47535576 47535576 C G SNP NPAS1 ENST00000449844 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS1 HGNC ENSG00000130751 47 22 31.88 63 0 0.00 NPAS1 4861 genome.wustl.edu 37 19 47548507 47548507 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 47548507 47548507 G A SNP NPAS1 ENST00000449844 human ensembl 70_37 +1 known silent c.1371 p.Q457 0.511 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS1 HGNC ENSG00000130751 37 11 22.92 46 0 0.00 NPAS2 4862 genome.wustl.edu 37 2 101554272 101554272 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 101554272 101554272 G A SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.526 p.D176N 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 53 25 31.65 70 0 0.00 NPAS2 4862 genome.wustl.edu 37 2 101591925 101591925 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 101591925 101591925 C G SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.1483 p.P495A 0.980 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 29 10 25.64 62 0 0.00 NPAS2 4862 genome.wustl.edu 37 2 101607315 101607315 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 101607315 101607315 A G SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.2287 p.R763G 0.589 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 57 7 10.94 63 0 0.00 NPAS2 4862 genome.wustl.edu 37 2 101611992 101611992 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 101611992 101611992 G A SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.2618 p.R873Q 0.901 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 60 11 15.49 59 0 0.00 NPAS3 64067 genome.wustl.edu 37 14 33836443 33836443 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 33836443 33836443 T G SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known missense c.437 p.F146C 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC ENSG00000151322 14 6 30.00 61 0 0.00 NPAS3 64067 genome.wustl.edu 37 14 34268968 34268968 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 34268968 34268968 G A SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known silent c.1455 p.E485 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC ENSG00000151322 66 30 31.25 76 0 0.00 NPAS3 64067 genome.wustl.edu 37 14 34269677 34269677 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 34269677 34269677 G A SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known missense c.2164 p.D722N 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC ENSG00000151322 14 11 44.00 12 0 0.00 NPAS3 64067 genome.wustl.edu 37 14 34270072 34270072 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 34270072 34270072 C T SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known silent c.2559 p.F853 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC ENSG00000151322 20 21 51.22 26 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66188674 66188674 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 66188674 66188674 C T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known silent c.24 p.A8 0.995 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 18 4 18.18 21 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66189939 66189939 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66189939 66189939 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known silent c.345 p.Q115 1.000 smart_PAS,pfscan_PAS pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 25 9 26.47 34 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66190194 66190194 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 66190194 66190194 G C SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.480 p.Q160H 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 81 49 37.69 112 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66191114 66191114 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 66191114 66191114 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.874 p.A292T 1.000 pfam_PAS_fold_3 pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 31 29 48.33 60 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66191346 66191346 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 66191346 66191346 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.985 p.E329K 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 30 6 16.67 29 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66191431 66191431 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66191431 66191431 C G SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 11 7 38.89 30 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66192248 66192248 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 66192248 66192248 G T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.1887 p.Q629H 0.634 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 16 12 42.86 19 0 0.00 NPAS4 266743 genome.wustl.edu 37 11 66192484 66192484 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66192484 66192484 C T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.2123 p.T708M 0.991 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 23 18 43.90 44 0 0.00 NPAT 4863 genome.wustl.edu 37 11 108044204 108044204 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 108044204 108044204 C G SNP NPAT ENST00000278612 human ensembl 70_37 -1 known missense c.1507 p.D503H 0.759 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 35 11 23.91 65 0 0.00 NPBWR1 2831 genome.wustl.edu 37 8 53852812 53852812 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 53852812 53852812 C T SNP NPBWR1 ENST00000331251 human ensembl 70_37 +1 known silent c.345 p.I115 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 95 35 26.92 78 0 0.00 NPBWR1 2831 genome.wustl.edu 37 8 53853152 53853152 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 53853152 53853152 C T SNP NPBWR1 ENST00000331251 human ensembl 70_37 +1 known missense c.685 p.R229W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 25 20 44.44 44 0 0.00 NPBWR2 2832 genome.wustl.edu 37 20 62737876 62737876 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 62737876 62737876 C T SNP NPBWR2 ENST00000369768 human ensembl 70_37 -1 known silent c.309 p.A103 0.431 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 66 46 41.07 50 0 0.00 NPC1 4864 genome.wustl.edu 37 18 21119727 21119727 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 21119727 21119727 G A SNP NPC1 ENST00000540608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NPC1 HGNC ENSG00000141458 17 7 29.17 26 0 0.00 NPC1 4864 genome.wustl.edu 37 18 21125040 21125040 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 18 21125040 21125040 C T SNP NPC1 ENST00000269228 human ensembl 70_37 -1 known missense c.1831 p.D611N 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 44 20 31.25 59 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44553224 44553224 + Missense_Mutation SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 7 44553224 44553224 G T SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known missense c.3902 p.A1301E 0.903 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 19 12 38.71 28 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44555783 44555783 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44555783 44555783 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known missense c.3614 p.S1205F 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 18 6 25.00 11 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44560680 44560680 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 44560680 44560680 C T SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.2991 p.T997 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 14 10 41.67 33 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44561742 44561742 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 44561742 44561742 C T SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known missense c.2737 p.E913K 0.001 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 47 20 29.85 49 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44575553 44575553 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 44575553 44575553 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.1869 p.D623 0.978 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 55 33 37.08 44 0 0.00 NPC1L1 29881 genome.wustl.edu 37 7 44578916 44578916 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44578916 44578916 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.1080 p.V360 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 34 6 15.00 21 0 0.00 NPDC1 56654 genome.wustl.edu 37 9 139935437 139935437 + Splice_Site SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 139935437 139935437 C T SNP NPDC1 ENST00000371600 human ensembl 70_37 -1 known splice_site c.620-1 e3-1 0.979 - - - no_errors NPDC1 HGNC ENSG00000107281 27 18 40.00 30 0 0.00 NPDC1 56654 genome.wustl.edu 37 9 139937556 139937556 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139937556 139937556 C T SNP NPDC1 ENST00000371600 human ensembl 70_37 -1 known missense c.316 p.E106K 0.012 NULL pfam_NPDC1 - no_errors NPDC1 HGNC ENSG00000107281 19 12 38.71 22 0 0.00 NPEPL1 79716 genome.wustl.edu 37 20 57268911 57268911 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 57268911 57268911 C T SNP NPEPL1 ENST00000356091 human ensembl 70_37 +1 known missense c.269 p.S90L 0.994 NULL pfam_Peptidase_M17_C,prints_Peptidase_M17 - no_errors NPEPL1 HGNC ENSG00000215440 17 8 32.00 33 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45608750 45608750 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 45608750 45608750 C T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known silent c.84 p.V28 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 35 27 43.55 73 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45608761 45608761 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 45608761 45608761 C T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.95 p.S32F 0.998 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 54 13 19.40 34 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45608819 45608819 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 45608819 45608819 C G SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.153 p.F51L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 53 24 31.17 54 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45662986 45662986 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 45662986 45662986 G A SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.769 p.E257K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 55 18 24.66 109 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45663580 45663580 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 45663580 45663580 G C SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.916 p.D306H 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 36 13 26.53 82 0 0.00 NPEPPS 9520 genome.wustl.edu 37 17 45679078 45679078 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 45679078 45679078 G T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.1705 p.V569F 0.994 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 29 4 12.12 34 0 0.00 NPFFR2 10886 genome.wustl.edu 37 4 73013316 73013316 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 73013316 73013316 C G SNP NPFFR2 ENST00000308744 human ensembl 70_37 +1 known silent c.1356 p.L452 0.023 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 50 17 25.37 56 0 0.00 NPHP1 4867 genome.wustl.edu 37 2 110881535 110881535 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 110881535 110881535 C G SNP NPHP1 ENST00000316534 human ensembl 70_37 -1 known missense c.2035 p.E679Q 0.974 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 52 23 30.67 67 0 0.00 NPHP1 4867 genome.wustl.edu 37 2 110922134 110922134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 110922134 110922134 C G SNP NPHP1 ENST00000316534 human ensembl 70_37 -1 known missense c.902 p.R301T 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 16 14 46.67 26 0 0.00 NPHP3 27031 genome.wustl.edu 37 3 132401567 132401567 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 132401567 132401567 C T SNP NPHP3 ENST00000337331 human ensembl 70_37 -1 known silent c.3792 p.L1264 0.998 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 62 9 12.68 67 0 0.00 NPHP3 27031 genome.wustl.edu 37 3 132408001 132408001 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 132408001 132408001 C T SNP NPHP3 ENST00000337331 human ensembl 70_37 -1 known missense c.2800 p.E934K 1.000 NULL pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 33 10 23.26 26 0 0.00 NPHP4 261734 genome.wustl.edu 37 1 5937208 5937208 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 1 5937208 5937208 G A SNP NPHP4 ENST00000378156 human ensembl 70_37 -1 known missense c.2762 p.S921F 0.034 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 20 12 37.50 21 0 0.00 NPHP4 261734 genome.wustl.edu 37 1 5937269 5937269 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 5937269 5937269 G A SNP NPHP4 ENST00000378156 human ensembl 70_37 -1 known missense c.2701 p.P901S 0.009 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 27 14 33.33 34 0 0.00 NPHP4 261734 genome.wustl.edu 37 1 5993304 5993304 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 5993304 5993304 G T SNP NPHP4 ENST00000378156 human ensembl 70_37 -1 known missense c.1205 p.S402Y 0.001 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 12 3 20.00 24 0 0.00 NPHS1 4868 genome.wustl.edu 37 19 36317448 36317448 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36317448 36317448 G T SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.3694 p.L1232M 0.274 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 31 15 32.61 64 0 0.00 NPHS1 4868 genome.wustl.edu 37 19 36322209 36322209 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36322209 36322209 G C SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.3376 p.Q1126E 0.001 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 69 34 32.69 90 0 0.00 NPHS1 4868 genome.wustl.edu 37 19 36330418 36330418 + Silent SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 36330418 36330418 C A SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known silent c.2907 p.L969 0.971 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 31 11 26.19 44 0 0.00 NPHS1 4868 genome.wustl.edu 37 19 36330458 36330458 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36330458 36330458 G A SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.2867 p.S956F 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 124 30 19.48 155 0 0.00 NPHS1 4868 genome.wustl.edu 37 19 36339024 36339024 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 36339024 36339024 C T SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known silent c.1359 p.Q453 0.070 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 91 30 24.79 143 0 0.00 NPHS2 7827 genome.wustl.edu 37 1 179526215 179526215 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179526215 179526215 G C SNP NPHS2 ENST00000367615 human ensembl 70_37 -1 known missense c.685 p.R229G 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 41 23 35.94 46 0 0.00 NPIPA1 9284 genome.wustl.edu 37 16 15022324 15022324 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 15022324 15022324 G C SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC ENSG00000183426 121 19 13.38 144 0 0.00 NPIPA1 9284 genome.wustl.edu 37 16 15024568 15024568 + RNA SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 15024568 15024568 A G SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC ENSG00000183426 16 5 20.00 11 0 0.00 NPIPA1 9284 genome.wustl.edu 37 16 15027080 15027080 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 15027080 15027080 C G SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC ENSG00000183426 41 8 16.33 26 0 0.00 NPIPA1 9284 genome.wustl.edu 37 16 15045687 15045687 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 15045687 15045687 C G SNP NPIP ENST00000328085 human ensembl 70_37 +1 novel silent c.858 p.L286 0.077 pfam_NPIP pfam_NPIP - no_errors NPIP HGNC ENSG00000183426 60 13 17.81 44 0 0.00 NPIPB7 440350 genome.wustl.edu 37 16 28468131 28468131 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 28468131 28468131 G C SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.859 p.L287V 0.060 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC ENSG00000233232 122 35 22.29 120 0 0.00 NPIPB7 440350 genome.wustl.edu 37 16 28468242 28468242 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28468242 28468242 G A SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.748 p.P250S 0.062 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC ENSG00000233232 21 10 32.26 18 0 0.00 NPIPB7 440350 genome.wustl.edu 37 16 28468257 28468257 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 28468257 28468257 G A SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.733 p.R245C 0.146 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC ENSG00000233232 37 40 50.63 59 0 0.00 NPIPB7 440350 genome.wustl.edu 37 16 28481749 28481749 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 16 28481749 28481749 C T SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.11 p.R4H 0.010 NULL pfam_NPIP - no_errors NPIPL1 HGNC ENSG00000233232 414 90 17.82 220 1 0.45 NPIPB15 440348 genome.wustl.edu 37 16 74425650 74425650 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 74425650 74425650 C T SNP NPIPL2 ENST00000429990 human ensembl 70_37 +1 known missense c.1004 p.S335L 0.119 pfam_NPIP pfam_NPIP - no_errors NPIPL2 HGNC ENSG00000196436 215 76 26.12 253 1 0.39 NPIPB15 440348 genome.wustl.edu 37 16 74425961 74425961 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 74425961 74425961 G A SNP NPIPL2 ENST00000429990 human ensembl 70_37 +1 known missense c.1315 p.A439T 0.974 NULL pfam_NPIP - no_errors NPIPL2 HGNC ENSG00000196436 42 5 10.64 23 0 0.00 NPIPB3 23117 genome.wustl.edu 37 16 21416078 21416078 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 21416078 21416078 G A SNP NPIPL3 ENST00000447737 human ensembl 70_37 -1 known silent c.813 p.L271 0.027 pfam_NPIP pfam_NPIP - no_errors NPIPL3 HGNC ENSG00000169246 19 10 34.48 21 0 0.00 NPIPB3 23117 genome.wustl.edu 37 16 21416144 21416144 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21416144 21416144 C T SNP NPIPL3 ENST00000447737 human ensembl 70_37 -1 known silent c.747 p.E249 0.008 pfam_NPIP pfam_NPIP - no_errors NPIPL3 HGNC ENSG00000169246 25 8 24.24 35 0 0.00 NPIPP1 100874381 genome.wustl.edu 37 16 15222200 15222200 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 15222200 15222200 C G SNP NPIPP1 ENST00000358815 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 NULL pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom - no_errors NPIPP1 HGNC ENSG00000188599 65 26 28.57 86 0 0.00 NPL 80896 genome.wustl.edu 37 1 182791267 182791268 + Frame_Shift_Ins INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 182791267 182791268 - A INS NPL ENST00000258317 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.T227fs 1.000:0.993 pfam_Dihydrodipicolinate_synth-like pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC ENSG00000135838 22 11 33.33 34 0 0.00 NPL 80896 genome.wustl.edu 37 1 182791267 182791268 + Frame_Shift_Ins INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 182791267 182791268 - A INS NPL ENST00000258317 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.T227fs 1.000:0.993 pfam_Dihydrodipicolinate_synth-like pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC ENSG00000135838 66 24 26.67 79 0 0.00 NPL 80896 genome.wustl.edu 37 1 182798813 182798813 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 182798813 182798813 G A SNP NPL ENST00000367552 human ensembl 70_37 +1 known silent c.722 p.*241 0.040 NULL pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC ENSG00000135838 19 17 47.22 32 0 0.00 NPLOC4 55666 genome.wustl.edu 37 17 79564302 79564302 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 79564302 79564302 C T SNP NPLOC4 ENST00000374747 human ensembl 70_37 -1 known missense c.962 p.R321Q 1.000 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 92 22 19.30 71 0 0.00 NPLOC4 55666 genome.wustl.edu 37 17 79564319 79564319 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 79564319 79564319 G A SNP NPLOC4 ENST00000374747 human ensembl 70_37 -1 known silent c.945 p.L315 0.046 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 35 18 33.96 70 0 0.00 NPM1 4869 genome.wustl.edu 37 5 170827185 170827185 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 170827185 170827185 G A SNP NPM1 ENST00000296930 human ensembl 70_37 +1 known missense c.553 p.E185K 1.000 pfam_Nucleoplasmin pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core - no_errors NPM1 HGNC ENSG00000181163 26 15 36.59 57 0 0.00 NPM2 10361 genome.wustl.edu 37 8 21882273 21882273 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 21882273 21882273 G C SNP NPM2 ENST00000520180 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NPM2 HGNC ENSG00000158806 3 30 90.91 34 0 0.00 NPM2 10361 genome.wustl.edu 37 8 21882801 21882801 + Silent SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 21882801 21882801 G C SNP NPM2 ENST00000397940 human ensembl 70_37 +1 known silent c.42 p.V14 0.000 NULL pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core - no_errors NPM2 HGNC ENSG00000158806 37 7 15.91 58 0 0.00 NPPA 4878 genome.wustl.edu 37 1 11907423 11907423 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 11907423 11907423 G A SNP NPPA ENST00000376480 human ensembl 70_37 -1 known missense c.197 p.P66L 0.999 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 29 26 47.27 29 0 0.00 NPPA 4878 genome.wustl.edu 37 1 11907423 11907423 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 11907423 11907423 G A SNP NPPA ENST00000376480 human ensembl 70_37 -1 known missense c.197 p.P66L 0.999 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 53 25 32.05 98 0 0.00 NPPB 4879 genome.wustl.edu 37 1 11917620 11917621 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 11917620 11917621 - A INS NPPB ENST00000474547 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.009 - - - no_errors NPPB HGNC ENSG00000120937 26 5 16.13 42 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153657530 153657530 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153657530 153657530 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.1575 p.R525 1.000 smart_Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 68 17 20.00 49 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153658665 153658665 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153658665 153658665 G C SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known missense c.1747 p.E583Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 59 20 25.32 57 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153660530 153660530 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 153660530 153660530 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.2250 p.E750 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 32 15 31.91 82 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153661549 153661549 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 153661549 153661549 G T SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known missense c.2538 p.E846D 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 41 10 19.61 79 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153665869 153665869 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 153665869 153665869 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.3165 p.R1055 0.975 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 30 7 18.92 25 0 0.00 NPR1 4881 genome.wustl.edu 37 1 153665889 153665889 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 153665889 153665889 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.3185 p.*1062 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC ENSG00000169418 11 6 35.29 12 0 0.00 NPR3 4883 genome.wustl.edu 37 5 32710861 32710861 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 32710861 32710861 C T SNP NPR3 ENST00000415685 human ensembl 70_37 +1 known silent c.93 p.F31 0.005 NULL pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 44 23 34.33 80 0 0.00 NPR3 4883 genome.wustl.edu 37 5 32712325 32712325 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 32712325 32712325 C T SNP NPR3 ENST00000265074 human ensembl 70_37 +1 known missense c.443 p.S148L 0.980 pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 39 14 26.42 59 0 0.00 NPR3 4883 genome.wustl.edu 37 5 32774868 32774868 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 32774868 32774868 C G SNP NPR3 ENST00000265074 human ensembl 70_37 +1 known missense c.1114 p.L372V 1.000 pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 59 48 44.44 115 0 0.00 NPRL2 10641 genome.wustl.edu 37 3 50385987 50385987 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 50385987 50385987 C A SNP NPRL2 ENST00000232501 human ensembl 70_37 -1 known missense c.691 p.G231C 1.000 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 14 3 17.65 41 0 0.00 NPRL2 10641 genome.wustl.edu 37 3 50386315 50386315 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 50386315 50386315 G T SNP NPRL2 ENST00000232501 human ensembl 70_37 -1 known missense c.575 p.T192N 1.000 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 32 4 11.11 45 0 0.00 NPRL3 8131 genome.wustl.edu 37 16 167375 167375 + Splice_Site SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 167375 167375 C T SNP NPRL3 ENST00000399953 human ensembl 70_37 -1 known splice_site c.319-1 e4-1 1.000 - - - no_errors NPRL3 HGNC ENSG00000103148 16 11 40.74 39 0 0.00 NPSR1 387129 genome.wustl.edu 37 7 34889232 34889232 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 34889232 34889232 G A SNP NPSR1 ENST00000360581 human ensembl 70_37 +1 known missense c.1081 p.E361K 0.985 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 18 5 21.74 39 0 0.00 NPSR1-AS1 404744 genome.wustl.edu 37 7 34800762 34800762 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 34800762 34800762 G A SNP NPSR1-AS1 ENST00000419766 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NPSR1-AS1 HGNC ENSG00000197085 29 8 21.62 45 0 0.00 NPTN 27020 genome.wustl.edu 37 15 73889684 73889684 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 73889684 73889684 C G SNP NPTN ENST00000345330 human ensembl 70_37 -1 known missense c.118 p.E40Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NPTN HGNC ENSG00000156642 38 21 35.59 48 0 0.00 NPTN 27020 genome.wustl.edu 37 15 73925521 73925521 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 73925521 73925521 G C SNP NPTN ENST00000345330 human ensembl 70_37 -1 known silent c.36 p.L12 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NPTN HGNC ENSG00000156642 11 8 42.11 17 0 0.00 NPTX1 4884 genome.wustl.edu 37 17 78445576 78445576 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 78445576 78445576 G A SNP NPTX1 ENST00000306773 human ensembl 70_37 -1 known missense c.1033 p.H345Y 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 48 20 29.41 58 0 0.00 NPTX1 4884 genome.wustl.edu 37 17 78449452 78449452 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 78449452 78449452 C T SNP NPTX1 ENST00000306773 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 36 61 62.89 85 0 0.00 NPTX1 4884 genome.wustl.edu 37 17 78449464 78449464 + Nonsense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 78449464 78449464 G A SNP NPTX1 ENST00000306773 human ensembl 70_37 -1 known nonsense c.499 p.Q167* 1.000 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 34 30 46.88 29 0 0.00 NPTXR 23467 genome.wustl.edu 37 22 39219171 39219171 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 39219171 39219171 C T SNP NPTXR ENST00000333039 human ensembl 70_37 -1 known missense c.1195 p.G399R 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 8 5 38.46 35 0 0.00 NPVF 64111 genome.wustl.edu 37 7 25266507 25266507 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 25266507 25266507 C A SNP NPVF ENST00000222674 human ensembl 70_37 -1 known missense c.277 p.G93W 1.000 NULL NULL - no_errors NPVF HGNC ENSG00000105954 209 45 17.72 312 1 0.32 NPY1R 4886 genome.wustl.edu 37 4 164246583 164246583 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 164246583 164246583 G A SNP NPY1R ENST00000296533 human ensembl 70_37 -1 known missense c.1027 p.R343W 0.998 prints_NPY1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 165 55 24.89 229 0 0.00 NPY1R 4886 genome.wustl.edu 37 4 164246841 164246841 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 164246841 164246841 C T SNP NPY1R ENST00000296533 human ensembl 70_37 -1 known missense c.769 p.E257K 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 46 13 22.03 41 0 0.00 NPY2R 4887 genome.wustl.edu 37 4 156135547 156135547 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 156135547 156135547 C T SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known silent c.456 p.I152 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 16 10 38.46 17 0 0.00 NPY2R 4887 genome.wustl.edu 37 4 156135804 156135804 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 156135804 156135804 C T SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known missense c.713 p.S238F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 13 11 45.83 28 0 0.00 NPY2R 4887 genome.wustl.edu 37 4 156136145 156136145 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 156136145 156136145 G A SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known missense c.1054 p.E352K 1.000 prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 13 5 27.78 28 0 0.00 NPY5R 4889 genome.wustl.edu 37 4 164271435 164271435 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 164271435 164271435 G C SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.10 p.E4Q 0.942 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC ENSG00000164129 16 20 55.56 39 0 0.00 NPY5R 4889 genome.wustl.edu 37 4 164272147 164272147 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 164272147 164272147 G A SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.722 p.G241E 0.967 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC ENSG00000164129 45 12 21.05 63 0 0.00 NPY5R 4889 genome.wustl.edu 37 4 164272489 164272489 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 164272489 164272489 C T SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.1064 p.S355F 0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC ENSG00000164129 23 19 45.24 39 0 0.00 NPY5R 4889 genome.wustl.edu 37 4 164272516 164272516 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 164272516 164272516 G C SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.1091 p.R364P 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC ENSG00000164129 42 9 17.65 33 0 0.00 NPY6R 4888 genome.wustl.edu 37 5 137144191 137144191 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 137144191 137144191 C T SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors NPY6R HGNC ENSG00000226306 52 90 63.38 117 0 0.00 NPY6R 4888 genome.wustl.edu 37 5 137144191 137144191 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 137144191 137144191 C T SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors NPY6R HGNC ENSG00000226306 99 17 14.66 141 0 0.00 NPY6R 4888 genome.wustl.edu 37 5 137144629 137144629 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 137144629 137144629 G C SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.932 - - - no_errors NPY6R HGNC ENSG00000226306 70 16 18.60 85 0 0.00 NQO1 1728 genome.wustl.edu 37 16 69745052 69745052 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 69745052 69745052 C T SNP NQO1 ENST00000320623 human ensembl 70_37 -1 known missense c.652 p.E218K 1.000 NULL pfam_Flavodoxin_fold,pfam_FMN_red - no_errors NQO1 HGNC ENSG00000181019 34 6 15.00 32 0 0.00 NR0B1 190 genome.wustl.edu 37 X 30326419 30326419 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 30326419 30326419 G A SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known silent c.1062 p.S354 0.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 33 33 50.00 76 0 0.00 NR0B1 190 genome.wustl.edu 37 X 30326793 30326793 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 30326793 30326793 G A SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known missense c.688 p.R230W 0.411 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 20 8 28.57 22 0 0.00 NR0B1 190 genome.wustl.edu 37 X 30327072 30327072 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 30327072 30327072 C T SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known missense c.409 p.E137K 0.850 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 15 3 16.67 11 0 0.00 NR1D1 9572 genome.wustl.edu 37 17 38252730 38252730 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 38252730 38252730 G C SNP NR1D1 ENST00000246672 human ensembl 70_37 -1 known missense c.570 p.F190L 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 27 13 32.50 64 0 0.00 NR1D1 9572 genome.wustl.edu 37 17 38253437 38253437 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38253437 38253437 G A SNP NR1D1 ENST00000246672 human ensembl 70_37 -1 known missense c.251 p.S84L 0.175 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 69 19 21.59 55 0 0.00 NR1D2 9975 genome.wustl.edu 37 3 24001171 24001171 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 24001171 24001171 C T SNP NR1D2 ENST00000312521 human ensembl 70_37 +1 known missense c.382 p.R128W 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 88 48 35.29 111 0 0.00 NR1D2 9975 genome.wustl.edu 37 3 24001301 24001301 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 24001301 24001301 G C SNP NR1D2 ENST00000312521 human ensembl 70_37 +1 known missense c.512 p.R171T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 69 29 29.59 104 0 0.00 NR1H2 7376 genome.wustl.edu 37 19 50881478 50881478 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50881478 50881478 A C SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.254 p.E85A 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 31 8 20.00 61 0 0.00 NR1H2 7376 genome.wustl.edu 37 19 50881965 50881965 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 19 50881965 50881965 C T SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.659 p.T220I 0.504 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 12 3 20.00 19 0 0.00 NR1H2 7376 genome.wustl.edu 37 19 50885276 50885276 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 50885276 50885276 C T SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.1081 p.R361W 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Liver_X_rcpt,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 5 2 28.57 13 0 0.00 NR1H2 7376 genome.wustl.edu 37 19 50885827 50885827 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 50885827 50885827 C G SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.1351 p.L451V 0.858 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 64 12 15.79 44 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47270221 47270221 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 47270221 47270221 C T SNP NR1H3 ENST00000495866 human ensembl 70_37 +1 known rna NULL NULL 0.901 - - - no_errors NR1H3 HGNC ENSG00000025434 32 9 21.95 38 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47281001 47281001 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 47281001 47281001 G A SNP NR1H3 ENST00000419652 human ensembl 70_37 +1 known missense c.133 p.A45T 0.000 NULL NULL - no_errors NR1H3 HGNC ENSG00000025434 38 9 18.37 83 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47283254 47283254 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 47283254 47283254 C T SNP NR1H3 ENST00000441012 human ensembl 70_37 +1 known silent c.865 p.L289 0.997 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 22 27 55.10 27 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47283259 47283259 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 47283259 47283259 G A SNP NR1H3 ENST00000441012 human ensembl 70_37 +1 known silent c.870 p.L290 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 31 11 26.19 31 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47283301 47283301 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 47283301 47283301 G A SNP NR1H3 ENST00000481889 human ensembl 70_37 +1 putative missense c.777 p.M259I 0.180 smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H3 HGNC ENSG00000025434 26 10 27.78 29 0 0.00 NR1H3 10062 genome.wustl.edu 37 11 47283409 47283409 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 47283409 47283409 G C SNP NR1H3 ENST00000481889 human ensembl 70_37 +1 putative missense c.885 p.K295N 0.000 smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H3 HGNC ENSG00000025434 110 42 27.63 179 0 0.00 NR1H4 9971 genome.wustl.edu 37 12 100904813 100904813 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 100904813 100904813 C T SNP NR1H4 ENST00000551379 human ensembl 70_37 +1 known missense c.367 p.R123C 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 116 41 26.11 152 0 0.00 NR1I2 8856 genome.wustl.edu 37 3 119526272 119526272 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 119526272 119526272 G A SNP NR1I2 ENST00000337940 human ensembl 70_37 +1 known missense c.292 p.E98K 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 36 9 20.00 24 0 0.00 NR1I2 8856 genome.wustl.edu 37 3 119531560 119531560 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 119531560 119531560 G A SNP NR1I2 ENST00000337940 human ensembl 70_37 +1 known missense c.664 p.E222K 0.008 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 43 33 43.42 38 0 0.00 NR2C1 7181 genome.wustl.edu 37 12 95422188 95422188 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 95422188 95422188 C T SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known silent c.1506 p.L502 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 38 14 26.92 47 0 0.00 NR2C1 7181 genome.wustl.edu 37 12 95422265 95422265 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 95422265 95422265 C G SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known missense c.1429 p.E477Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 30 11 26.83 44 0 0.00 NR2C1 7181 genome.wustl.edu 37 12 95434349 95434349 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 95434349 95434349 C T SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known missense c.1156 p.E386K 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 33 17 34.00 70 0 0.00 NR2C2 7182 genome.wustl.edu 37 3 15045440 15045440 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15045440 15045440 C T SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known missense c.19 p.R7C 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 14 15 51.72 53 0 0.00 NR2C2 7182 genome.wustl.edu 37 3 15062306 15062306 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15062306 15062306 C T SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known silent c.480 p.F160 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 40 29 41.43 57 0 0.00 NR2C2 7182 genome.wustl.edu 37 3 15064801 15064801 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 15064801 15064801 G T SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known silent c.708 p.L236 0.996 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 14 3 17.65 52 0 0.00 NR2C2 7182 genome.wustl.edu 37 3 15079634 15079634 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 15079634 15079634 C G SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known silent c.1557 p.L519 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 29 21 42.00 33 0 0.00 NR2C2AP 126382 genome.wustl.edu 37 19 19313670 19313670 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 19313670 19313670 C T SNP NR2C2AP ENST00000331552 human ensembl 70_37 -1 known missense c.59 p.R20H 0.999 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC ENSG00000184162 74 14 15.91 80 0 0.00 NR2C2AP 126382 genome.wustl.edu 37 19 19313682 19313682 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 19313682 19313682 G C SNP NR2C2AP ENST00000331552 human ensembl 70_37 -1 known nonsense c.47 p.S16* 0.946 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC ENSG00000184162 27 12 30.77 51 0 0.00 NR2E1 7101 genome.wustl.edu 37 6 108497812 108497812 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 108497812 108497812 C T SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.365 p.S122L 0.726 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 51 14 21.54 64 0 0.00 NR2E1 7101 genome.wustl.edu 37 6 108497844 108497844 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 6 108497844 108497844 G A SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.397 p.A133T 0.949 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 10 3 23.08 19 0 0.00 NR2E1 7101 genome.wustl.edu 37 6 108508587 108508587 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 108508587 108508587 G A SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.1078 p.E360K 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 38 13 25.49 68 0 0.00 NR2E1 7101 genome.wustl.edu 37 6 108508606 108508606 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108508606 108508606 C A SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.1097 p.T366N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 40 23 36.51 67 0 0.00 NR2E3 10002 genome.wustl.edu 37 15 72106369 72106369 + RNA SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 72106369 72106369 G A SNP NR2E3 ENST00000326995 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 80 16 16.67 62 0 0.00 NR2F1 7025 genome.wustl.edu 37 5 92929440 92929440 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 92929440 92929440 C T SNP NR2F1 ENST00000327111 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 56 15 21.13 49 0 0.00 NR2F1 7025 genome.wustl.edu 37 5 92929675 92929675 + RNA SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 5 92929675 92929675 G A SNP NR2F1 ENST00000506162 human ensembl 70_37 +1 putative rna NULL NULL 0.026 - - - no_errors NR2F1 HGNC ENSG00000175745 3 7 70.00 15 0 0.00 NR2F2 7026 genome.wustl.edu 37 15 96877515 96877515 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 15 96877515 96877515 G A SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known missense c.653 p.R218K 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 58 10 14.71 98 0 0.00 NR2F2 7026 genome.wustl.edu 37 15 96880708 96880708 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 96880708 96880708 C A SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known missense c.1102 p.P368T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 13 5 27.78 19 0 0.00 NR2F2 7026 genome.wustl.edu 37 15 96880846 96880846 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 96880846 96880846 C T SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known nonsense c.1240 p.Q414* 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 11 3 21.43 15 0 0.00 NR2F6 2063 genome.wustl.edu 37 19 17355841 17355841 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 17355841 17355841 C G SNP NR2F6 ENST00000291442 human ensembl 70_37 -1 known silent c.189 p.S63 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 7 3 30.00 15 0 0.00 NR3C1 2908 genome.wustl.edu 37 5 142658932 142658932 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 142658932 142658932 G A SNP NR3C1 ENST00000415690 human ensembl 70_37 -1 known silent c.2226 p.I742 0.007 NULL pfam_Glcrtcd_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 28 15 34.88 31 0 0.00 NR3C1 2908 genome.wustl.edu 37 5 142779831 142779831 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 142779831 142779831 C G SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.574 p.D192H 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 9 3 25.00 18 0 0.00 NR3C1 2908 genome.wustl.edu 37 5 142779923 142779923 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 142779923 142779923 G C SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.482 p.S161C 0.819 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 12 2 14.29 24 0 0.00 NR3C1 2908 genome.wustl.edu 37 5 142780157 142780157 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 142780157 142780157 G A SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.248 p.S83L 1.000 pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 39 12 23.53 45 0 0.00 NR3C1 2908 genome.wustl.edu 37 5 142780248 142780248 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 142780248 142780248 G C SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.157 p.Q53E 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 22 8 26.67 41 0 0.00 NR3C2 4306 genome.wustl.edu 37 4 149035254 149035254 + Splice_Site SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 149035254 149035254 C T SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known splice_site c.2811+1 e7+1 1.000 - - - no_errors NR3C2 HGNC ENSG00000151623 55 27 32.93 61 0 0.00 NR3C2 4306 genome.wustl.edu 37 4 149035255 149035255 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 149035255 149035255 G A SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known silent c.2811 p.D937 0.965 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 17 47 73.44 90 0 0.00 NR3C2 4306 genome.wustl.edu 37 4 149356645 149356645 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 4 149356645 149356645 C T SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known silent c.1368 p.S456 0.004 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 53 22 29.33 113 0 0.00 NR3C2 4306 genome.wustl.edu 37 4 149357186 149357186 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 149357186 149357186 G A SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known missense c.827 p.P276L 0.984 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 11 18 62.07 29 0 0.00 NR4A1 3164 genome.wustl.edu 37 12 52435661 52435661 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 52435661 52435661 G A SNP NR4A1 ENST00000545748 human ensembl 70_37 +1 known silent c.108 p.L36 0.134 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 16 14 46.67 17 0 0.00 NR4A1 3164 genome.wustl.edu 37 12 52449047 52449047 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 52449047 52449047 C T SNP NR4A1 ENST00000548232 human ensembl 70_37 +1 novel missense c.935 p.P312L 0.007 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Nuc_orph_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 35 7 16.67 16 0 0.00 NR5A2 2494 genome.wustl.edu 37 1 200012937 200012937 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 200012937 200012937 G A SNP NR5A2 ENST00000367362 human ensembl 70_37 +1 known missense c.238 p.E80K 1.000 pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 85 18 17.48 54 0 0.00 NR5A2 2494 genome.wustl.edu 37 1 200012937 200012937 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 200012937 200012937 G A SNP NR5A2 ENST00000367362 human ensembl 70_37 +1 known missense c.238 p.E80K 1.000 pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 71 19 21.11 65 0 0.00 NR6A1 2649 genome.wustl.edu 37 9 127287012 127287012 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 127287012 127287012 G A SNP NR6A1 ENST00000487099 human ensembl 70_37 -1 known nonsense c.1342 p.R448* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 13 18 58.06 47 0 0.00 NR6A1 2649 genome.wustl.edu 37 9 127300382 127300382 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 127300382 127300382 C G SNP NR6A1 ENST00000487099 human ensembl 70_37 -1 known missense c.813 p.L271F 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 56 27 32.53 97 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115350427 115350427 + Silent SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 115350427 115350427 C G SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.4890 p.V1630 0.137 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 22 4 15.38 34 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115351979 115351979 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 115351979 115351979 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.4642 p.R1548W 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 28 6 17.65 40 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115364418 115364418 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115364418 115364418 C A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known nonsense c.4201 p.E1401* 0.996 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 26 10 27.78 50 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115364439 115364439 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115364439 115364439 G C SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.4180 p.H1394D 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 19 8 29.63 26 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115374013 115374013 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 115374013 115374013 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.3253 p.L1085F 1.000 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 39 15 27.78 55 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115383353 115383353 + Missense_Mutation SNP A A C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 115383353 115383353 A C SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.2416 p.F806V 0.996 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 66 30 31.25 65 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115401164 115401164 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115401164 115401164 C T SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.1283 p.R428H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 48 6 11.11 84 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115405665 115405665 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 115405665 115405665 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.1029 p.G343 0.003 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 42 19 31.15 43 0 0.00 NRAP 4892 genome.wustl.edu 37 10 115411592 115411592 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 115411592 115411592 C T SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.645 p.R215 0.998 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 80 19 19.19 57 0 0.00 NRARP 441478 genome.wustl.edu 37 9 140196226 140196226 + Missense_Mutation SNP T T G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 140196226 140196226 T G SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.155 p.Q52P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC ENSG00000198435 10 5 33.33 24 0 0.00 NRARP 441478 genome.wustl.edu 37 9 140196233 140196233 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140196233 140196233 C T SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC ENSG00000198435 39 5 11.36 31 0 0.00 NRARP 441478 genome.wustl.edu 37 9 140196260 140196260 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140196260 140196260 C G SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.121 p.E41Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC ENSG00000198435 31 6 16.22 30 0 0.00 NRAS 4893 genome.wustl.edu 37 1 115256495 115256495 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 115256495 115256495 C T SNP NRAS ENST00000369535 human ensembl 70_37 -1 known missense c.216 p.M72I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 48 15 23.81 83 0 0.00 NRBP1 29959 genome.wustl.edu 37 2 27656621 27656621 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 27656621 27656621 G C SNP NRBP1 ENST00000233557 human ensembl 70_37 +1 known missense c.292 p.E98Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NRBP1 HGNC ENSG00000115216 9 15 62.50 57 0 0.00 NRBP1 29959 genome.wustl.edu 37 2 27663526 27663526 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 27663526 27663526 C G SNP NRBP1 ENST00000233557 human ensembl 70_37 +1 known missense c.1150 p.Q384E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NRBP1 HGNC ENSG00000115216 131 35 21.08 108 0 0.00 NRBP2 340371 genome.wustl.edu 37 8 144919847 144919847 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144919847 144919847 G A SNP NRBP2 ENST00000327830 human ensembl 70_37 -1 known silent c.192 p.F64 0.994 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 28 6 17.65 41 0 0.00 NRBP2 340371 genome.wustl.edu 37 8 144922149 144922149 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 144922149 144922149 G A SNP NRBP2 ENST00000442628 human ensembl 70_37 -1 novel silent c.306 p.I102 0.965 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NRBP2 HGNC ENSG00000185189 34 63 64.95 42 0 0.00 NRCAM 4897 genome.wustl.edu 37 7 107790405 107790405 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 107790405 107790405 C T SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.3865 p.E1289K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 34 5 12.82 29 0 0.00 NRCAM 4897 genome.wustl.edu 37 7 107807496 107807496 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 107807496 107807496 T G SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.3336 p.E1112D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 5 13 72.22 21 0 0.00 NRCAM 4897 genome.wustl.edu 37 7 107807498 107807498 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 107807498 107807498 C A SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known nonsense c.3334 p.E1112* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 5 13 72.22 19 0 0.00 NRCAM 4897 genome.wustl.edu 37 7 107823359 107823359 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 107823359 107823359 C G SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.2310 p.L770F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 25 3 10.71 30 0 0.00 NRCAM 4897 genome.wustl.edu 37 7 107848053 107848053 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 107848053 107848053 C T SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.1126 p.E376K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 63 11 14.86 91 0 0.00 NRD1 4898 genome.wustl.edu 37 1 52264001 52264001 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 52264001 52264001 C G SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known missense c.2728 p.E910Q 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC ENSG00000078618 30 8 21.05 34 0 0.00 NRD1 4898 genome.wustl.edu 37 1 52277771 52277771 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 52277771 52277771 C T SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known splice_site c.1879-1 e17-1 1.000 - - - no_errors NRD1 HGNC ENSG00000078618 50 17 25.00 52 0 0.00 NRD1 4898 genome.wustl.edu 37 1 52287195 52287195 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 52287195 52287195 C T SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known missense c.1396 p.E466K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC ENSG00000078618 37 19 33.93 38 0 0.00 NRD1 4898 genome.wustl.edu 37 1 52305911 52305912 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 52305911 52305912 - T INS NRD1 ENST00000354831 human ensembl 70_37 -1 known frame_shift_ins c.617_616 p.T206fs 1.000:1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC ENSG00000078618 53 12 18.46 74 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90754812 90754812 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 90754812 90754812 C T SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known silent c.2907 p.L969 0.039 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 27 9 25.00 31 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90755022 90755022 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 90755022 90755022 G A SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known silent c.2697 p.S899 0.001 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 21 8 27.59 39 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90778753 90778753 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778753 90778753 C T SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.542 p.R181Q 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 7 5 41.67 26 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90778787 90778787 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778787 90778787 C G SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.508 p.D170H 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 13 5 27.78 32 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90778799 90778799 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778799 90778799 C G SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.496 p.D166H 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 15 5 25.00 31 0 0.00 NRDE2 55051 genome.wustl.edu 37 14 90798256 90798256 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 90798256 90798256 G C SNP NRDE2 ENST00000557106 human ensembl 70_37 -1 known rna NULL NULL 0.946 - - - no_errors NRDE2 HGNC ENSG00000119720 22 16 42.11 39 0 0.00 NRG1 3084 genome.wustl.edu 37 8 32606549 32606549 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 32606549 32606549 C A SNP NRG1 ENST00000523681 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NRG1 HGNC ENSG00000157168 55 13 19.12 42 0 0.00 NRG1 3084 genome.wustl.edu 37 8 32621795 32621795 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 32621795 32621795 G C SNP NRG1 ENST00000338921 human ensembl 70_37 +1 known missense c.1822 p.E608Q 0.999 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 53 9 14.52 38 0 0.00 NRG2 9542 genome.wustl.edu 37 5 139235358 139235358 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 139235358 139235358 C T SNP NRG2 ENST00000545385 human ensembl 70_37 -1 known missense c.1201 p.E401K 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC ENSG00000158458 29 13 30.95 53 0 0.00 NRG2 9542 genome.wustl.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 139422565 139422567 GCT - DEL NRG2 ENST00000545385 human ensembl 70_37 -1 known in_frame_del c.90_88 p.S30in_frame_del 0.962:0.973:0.994 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC ENSG00000158458 10 3 23.08 25 0 0.00 NRG3 10718 genome.wustl.edu 37 10 83635529 83635529 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 10 83635529 83635529 G A SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.433 p.A145T 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 41 13 23.64 65 0 0.00 NRG3 10718 genome.wustl.edu 37 10 84733553 84733553 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 84733553 84733553 G T SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.1294 p.V432L 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 20 9 31.03 63 0 0.00 NRG3 10718 genome.wustl.edu 37 10 84738789 84738789 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 84738789 84738789 G A SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.1496 p.R499Q 0.988 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 28 16 36.36 41 0 0.00 NRG4 145957 genome.wustl.edu 37 15 76248315 76248315 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 76248315 76248315 C G SNP NRG4 ENST00000394907 human ensembl 70_37 -1 known missense c.289 p.D97H 0.371 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG4 HGNC ENSG00000169752 30 16 34.78 45 0 0.00 NRIP1 8204 genome.wustl.edu 37 21 16337230 16337230 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 16337230 16337230 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.3284 p.S1095F 0.454 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 213 99 31.73 361 0 0.00 NRIP1 8204 genome.wustl.edu 37 21 16337835 16337835 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 16337835 16337835 G T SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known silent c.2679 p.S893 0.019 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 31 5 13.51 43 0 0.00 NRIP1 8204 genome.wustl.edu 37 21 16338244 16338244 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 16338244 16338244 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.2270 p.S757F 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 132 48 26.67 205 0 0.00 NRIP1 8204 genome.wustl.edu 37 21 16338529 16338529 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 21 16338529 16338529 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.1985 p.P662L 0.963 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 91 27 22.88 153 0 0.00 NRIP1 8204 genome.wustl.edu 37 21 16339364 16339364 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 16339364 16339364 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.1150 p.L384F 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 42 27 39.13 66 0 0.00 NRIP2 83714 genome.wustl.edu 37 12 2937120 2937120 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 2937120 2937120 C T SNP NRIP2 ENST00000337508 human ensembl 70_37 -1 known silent c.672 p.E224 0.998 pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic - no_errors NRIP2 HGNC ENSG00000053702 35 12 25.53 37 0 0.00 NRK 203447 genome.wustl.edu 37 X 105132304 105132304 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 105132304 105132304 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known silent c.270 p.L90 0.906 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 36 8 18.18 31 0 0.00 NRK 203447 genome.wustl.edu 37 X 105152804 105152804 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 105152804 105152804 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known nonsense c.1174 p.Q392* 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 15 3 16.67 92 0 0.00 NRK 203447 genome.wustl.edu 37 X 105153049 105153049 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 105153049 105153049 G C SNP NRK ENST00000428173 human ensembl 70_37 +1 known silent c.1419 p.R473 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 17 6 26.09 57 0 0.00 NRK 203447 genome.wustl.edu 37 X 105168739 105168739 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 105168739 105168739 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known missense c.3031 p.R1011C 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 18 13 41.94 54 0 0.00 NRK 203447 genome.wustl.edu 37 X 105168893 105168893 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 105168893 105168893 G C SNP NRK ENST00000428173 human ensembl 70_37 +1 known missense c.3185 p.G1062A 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 41 14 25.45 55 0 0.00 NRK 203447 genome.wustl.edu 37 X 105193672 105193672 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 105193672 105193672 G A SNP NRK ENST00000428173 human ensembl 70_37 +1 known missense c.4462 p.E1488K 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 54 31 36.47 155 0 0.00 NRL 4901 genome.wustl.edu 37 14 24550456 24550456 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24550456 24550456 G C SNP NRL ENST00000396997 human ensembl 70_37 -1 known missense c.703 p.L235V 0.978 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NRL HGNC ENSG00000129535 13 5 27.78 21 0 0.00 NRM 11270 genome.wustl.edu 37 6 30655897 30655897 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30655897 30655897 G C SNP NRM ENST00000462857 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NRM HGNC ENSG00000137404 2 4 66.67 8 0 0.00 NRN1 51299 genome.wustl.edu 37 6 6002607 6002607 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 6002607 6002607 G A SNP NRN1 ENST00000244766 human ensembl 70_37 -1 known missense c.179 p.T60M 1.000 NULL NULL - no_errors NRN1 HGNC ENSG00000124785 23 22 48.89 39 0 0.00 NRP1 8829 genome.wustl.edu 37 10 33483586 33483586 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 33483586 33483586 C G SNP NRP1 ENST00000466932 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NRP1 HGNC ENSG00000099250 23 12 34.29 59 0 0.00 NRP1 8829 genome.wustl.edu 37 10 33502528 33502528 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 33502528 33502528 C G SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.1400 p.S467T 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_Coagulation_fac_5/8-C_type_dom pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 46 35 43.21 109 0 0.00 NRP1 8829 genome.wustl.edu 37 10 33545282 33545282 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 33545282 33545282 G A SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.776 p.S259L 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 49 6 10.91 38 0 0.00 NRP1 8829 genome.wustl.edu 37 10 33545393 33545393 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 33545393 33545393 G T SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.665 p.P222H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 16 4 20.00 29 0 0.00 NRP1 8829 genome.wustl.edu 37 10 33559709 33559709 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 33559709 33559709 G A SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known silent c.324 p.A108 0.925 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 41 14 25.45 24 0 0.00 NRP2 8828 genome.wustl.edu 37 2 206565458 206565458 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 206565458 206565458 C T SNP NRP2 ENST00000464003 human ensembl 70_37 +1 known rna NULL NULL 0.618 - - - no_errors NRP2 HGNC ENSG00000118257 44 29 39.19 67 0 0.00 NRP2 8828 genome.wustl.edu 37 2 206630245 206630245 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 206630245 206630245 C A SNP NRP2 ENST00000360409 human ensembl 70_37 +1 known silent c.2355 p.A785 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pirsf_Neuropilin,pfscan_MAM_dom,prints_MAM_dom pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 116 20 14.71 141 0 0.00 NRP2 8828 genome.wustl.edu 37 2 206659477 206659477 + Splice_Site SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 206659477 206659477 G C SNP NRP2 ENST00000360409 human ensembl 70_37 +1 known splice_site c.2492-1 e17-1 0.999 - - - no_errors NRP2 HGNC ENSG00000118257 52 40 43.48 82 0 0.00 NRSN1 140767 genome.wustl.edu 37 6 24145979 24145979 + Silent SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 24145979 24145979 A T SNP NRSN1 ENST00000378491 human ensembl 70_37 +1 known silent c.393 p.A131 0.037 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 60 10 14.29 58 0 0.00 NRSN2 80023 genome.wustl.edu 37 20 334278 334278 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 334278 334278 G A SNP NRSN2 ENST00000382285 human ensembl 70_37 +1 known silent c.614 p.*205 0.891 NULL NULL - no_errors NRSN2 HGNC ENSG00000125841 44 7 13.73 44 0 0.00 NRTN 4902 genome.wustl.edu 37 19 5824321 5824321 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 5824321 5824321 G A SNP NRTN ENST00000303212 human ensembl 70_37 +1 known missense c.145 p.A49T 0.947 NULL pfam_TGF-b_C - no_errors NRTN HGNC ENSG00000171119 55 38 40.86 65 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50147526 50147526 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 50147526 50147526 C T SNP NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors NRXN1 HGNC ENSG00000179915 47 8 14.55 31 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50148111 50148112 + RNA INS - - AAGT TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 50148111 50148112 - AAGT INS NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.237 - - - no_errors NRXN1 HGNC ENSG00000179915 13 9 40.91 17 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50148602 50148602 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 50148602 50148602 A C SNP NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.090 - - - no_errors NRXN1 HGNC ENSG00000179915 29 13 30.95 48 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50149205 50149205 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 50149205 50149205 C G SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.4377 p.E1459D 1.000 smart_Neurexin-like pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 73 21 22.34 67 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50318533 50318533 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 50318533 50318533 G A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.3622 p.R1208C 0.978 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 21 14 40.00 46 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50573974 50573974 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 50573974 50573974 C T SNP NRXN1 ENST00000342183 human ensembl 70_37 -1 known silent c.114 p.P38 0.992 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 7 7 50.00 8 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50733678 50733678 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 50733678 50733678 C A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known nonsense c.2428 p.G810* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 27 15 35.71 36 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50765725 50765725 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 50765725 50765725 C T SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.1785 p.E595 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 75 42 35.90 123 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 50847273 50847273 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 50847273 50847273 C G SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.1183 p.E395Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 15 19 55.88 29 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 51149818 51149818 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 51149818 51149818 C T SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.798 p.A266 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 37 22 37.29 53 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 51255079 51255079 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 51255079 51255079 G A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.333 p.D111 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 46 17 26.98 40 0 0.00 NRXN1 9378 genome.wustl.edu 37 2 51255238 51255238 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 51255238 51255238 G C SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 4 3 42.86 13 0 0.00 NRXN2 9379 genome.wustl.edu 37 11 64421184 64421184 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 64421184 64421184 G A SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known silent c.2400 p.R800 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 41 13 24.07 42 0 0.00 NRXN2 9379 genome.wustl.edu 37 11 64428387 64428387 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64428387 64428387 C T SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known missense c.2023 p.E675K 0.998 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 23 12 34.29 32 0 0.00 NRXN2 9379 genome.wustl.edu 37 11 64428457 64428457 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 64428457 64428457 C G SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known silent c.1953 p.R651 0.309 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 40 6 13.04 41 0 0.00 NRXN2 9379 genome.wustl.edu 37 11 64436066 64436066 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 64436066 64436066 G A SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known missense c.1208 p.S403L 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 38 32 45.71 78 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 78709692 78709692 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 78709692 78709692 C T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 13 7 35.00 32 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 79270053 79270053 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 79270053 79270053 G A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known missense c.2129 p.R710H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 35 8 18.60 39 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 79432549 79432549 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 79432549 79432549 G A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known silent c.2544 p.L848 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 18 10 35.71 48 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 79434541 79434541 + Silent SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 79434541 79434541 C A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known silent c.2961 p.A987 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 77 12 13.48 45 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 79454458 79454458 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 79454458 79454458 C T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known missense c.3203 p.S1068F 0.999 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 99 17 14.66 73 0 0.00 NRXN3 9369 genome.wustl.edu 37 14 79933648 79933648 + Missense_Mutation SNP A A T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 79933648 79933648 A T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known missense c.3314 p.D1105V 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 30 10 25.00 38 0 0.00 NSA2 10412 genome.wustl.edu 37 5 74069849 74069849 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 74069849 74069849 T C SNP NSA2 ENST00000296802 human ensembl 70_37 +1 known silent c.679 p.L227 0.965 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 80 30 27.27 122 1 0.81 NSAP11 100131275 genome.wustl.edu 37 8 18590981 18590981 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 18590981 18590981 G A SNP NSAP11 ENST00000524252 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-161I2.1 Clone_based_vega_gene ENSG00000187229 6 6 50.00 27 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176562465 176562465 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176562465 176562465 C G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.361 p.P121A 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 35 20 35.71 46 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176562700 176562700 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 5 176562700 176562700 C T SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.596 p.S199L 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 30 18 37.50 48 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176636673 176636673 + Missense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 176636673 176636673 G T SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1273 p.V425F 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 33 4 10.81 32 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176636850 176636850 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176636850 176636850 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1450 p.E484Q 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 5 28 84.85 27 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176636899 176636899 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176636899 176636899 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1499 p.R500T 0.919 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 3 15 83.33 23 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637093 176637093 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176637093 176637093 C G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1693 p.P565A 0.004 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 21 11 34.38 24 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637274 176637274 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637274 176637274 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1874 p.G625A 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 2 8 80.00 18 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637327 176637327 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637327 176637327 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1927 p.D643N 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 1 7 87.50 12 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637330 176637330 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637330 176637330 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1930 p.D644N 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 1 7 87.50 13 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637357 176637357 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176637357 176637357 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.979 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 10 17 62.96 46 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637417 176637417 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637417 176637417 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.2017 p.E673Q 0.993 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 3 6 66.67 17 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637601 176637601 + Missense_Mutation SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637601 176637601 A G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.2201 p.K734R 0.137 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 10 28 73.68 42 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637740 176637740 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637740 176637740 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2340 p.S780 0.035 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 8 13 61.90 23 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637930 176637930 + Frame_Shift_Del DEL G G - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637930 176637930 G - DEL NSD1 ENST00000439151 human ensembl 70_37 +1 known frame_shift_del c.2530 p.E844fs 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 9 17 65.38 21 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637932 176637932 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637932 176637932 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2532 p.E844 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 8 19 70.37 21 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176637992 176637992 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637992 176637992 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2592 p.L864 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 8 16 66.67 24 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176638298 176638298 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176638298 176638298 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2898 p.E966 0.998 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 3 13 81.25 20 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176638806 176638806 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638806 176638806 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.3406 p.E1136K 0.203 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 6 36 85.71 47 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176638817 176638817 + Silent SNP T T A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638817 176638817 T A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.3417 p.S1139 0.995 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 6 35 85.37 46 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176638839 176638839 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638839 176638839 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.3439 p.E1147K 0.989 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 6 32 84.21 41 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176638922 176638922 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 176638922 176638922 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.3522 p.M1174I 0.860 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 34 6 15.00 26 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176639054 176639054 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 176639054 176639054 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.3654 p.L1218 0.062 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 62 9 12.68 42 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176662835 176662835 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176662835 176662835 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.3810 p.E1270 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 30 8 21.05 35 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176687059 176687059 + Nonsense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 176687059 176687059 C A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known nonsense c.5036 p.S1679* 1.000 smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 72 22 23.40 72 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176687059 176687059 + Nonsense_Mutation SNP C C G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 5 176687059 176687059 C G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known nonsense c.5036 p.S1679* 1.000 smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 13 48 78.69 71 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176687130 176687130 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 176687130 176687130 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.5107 p.E1703Q 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 35 9 20.45 50 0 0.00 NSD1 64324 genome.wustl.edu 37 5 176721266 176721266 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 176721266 176721266 C T SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.6897 p.L2299 0.959 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 14 11 44.00 22 0 0.00 NSDHL 50814 genome.wustl.edu 37 X 152018902 152018902 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 152018902 152018902 G C SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known missense c.202 p.D68H 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 58 18 23.68 67 0 0.00 NSDHL 50814 genome.wustl.edu 37 X 152031145 152031145 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 152031145 152031145 C G SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 146 34 18.89 193 1 0.52 NSDHL 50814 genome.wustl.edu 37 X 152034375 152034375 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 152034375 152034375 G A SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known missense c.556 p.A186T 0.983 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 75 20 21.05 53 0 0.00 NSF 4905 genome.wustl.edu 37 17 44770331 44770331 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 44770331 44770331 G A SNP NSF ENST00000398238 human ensembl 70_37 +1 known silent c.1008 p.Q336 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors NSF HGNC ENSG00000073969 34 10 22.73 42 0 0.00 NSF 4905 genome.wustl.edu 37 17 44788416 44788416 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 44788416 44788416 G A SNP NSF ENST00000398238 human ensembl 70_37 +1 known missense c.1558 p.D520N 1.000 NULL pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors NSF HGNC ENSG00000073969 26 13 33.33 38 0 0.00 NSFL1C 55968 genome.wustl.edu 37 20 1434905 1434905 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 1434905 1434905 C T SNP NSFL1C ENST00000350991 human ensembl 70_37 -1 known missense c.496 p.E166K 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 21 5 19.23 36 0 0.00 NSFL1C 55968 genome.wustl.edu 37 20 1434911 1434911 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 1434911 1434911 C T SNP NSFL1C ENST00000350991 human ensembl 70_37 -1 known missense c.490 p.E164K 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 20 5 19.23 36 0 0.00 NSG1 27065 genome.wustl.edu 37 4 4411304 4411304 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 4411304 4411304 C G SNP NSG1 ENST00000397958 human ensembl 70_37 +1 known missense c.251 p.S84C 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors NSG1 Uniprot_genename ENSG00000168824 31 15 32.61 46 0 0.00 NSL1 25936 genome.wustl.edu 37 1 212955582 212955582 + RNA SNP T T G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 212955582 212955582 T G SNP NSL1 ENST00000473995 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NSL1 HGNC ENSG00000117697 7 10 58.82 15 0 0.00 NSMAF 8439 genome.wustl.edu 37 8 59511903 59511903 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 59511903 59511903 C A SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.1566 p.Q522H 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 29 4 12.12 22 0 0.00 NSMAF 8439 genome.wustl.edu 37 8 59518528 59518528 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 59518528 59518528 G C SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.919 p.Q307E 1.000 superfamily_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 51 13 20.31 83 0 0.00 NSMAF 8439 genome.wustl.edu 37 8 59520362 59520362 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 8 59520362 59520362 C T SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.818 p.R273H 1.000 pfam_GRAM,smart_GRAM pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 9 13 59.09 39 0 0.00 NSMAF 8439 genome.wustl.edu 37 8 59547876 59547876 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 59547876 59547876 C G SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.377 p.R126T 0.935 NULL pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 21 9 30.00 53 0 0.00 NSMCE4A 54780 genome.wustl.edu 37 10 123719111 123719111 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 123719111 123719111 C G SNP NSMCE4A ENST00000369023 human ensembl 70_37 -1 known splice_site c.989-1 e9-1 1.000 - - - no_errors NSMCE4A HGNC ENSG00000107672 47 19 28.79 62 0 0.00 NSRP1 84081 genome.wustl.edu 37 17 28506219 28506219 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 28506219 28506219 G C SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known missense c.412 p.D138H 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 62 9 12.50 65 0 0.00 NSRP1 84081 genome.wustl.edu 37 17 28512158 28512158 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 28512158 28512158 G A SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known silent c.1143 p.E381 0.300 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 25 6 19.35 14 0 0.00 NSRP1 84081 genome.wustl.edu 37 17 28512600 28512600 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 28512600 28512600 G A SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known missense c.1585 p.E529K 0.914 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 23 9 27.27 19 0 0.00 NSUN2 54888 genome.wustl.edu 37 5 6632788 6632788 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 6632788 6632788 C T SNP NSUN2 ENST00000264670 human ensembl 70_37 -1 known missense c.178 p.E60K 0.974 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 37 17 31.48 56 0 0.00 NSUN2 54888 genome.wustl.edu 37 5 6632822 6632822 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 6632822 6632822 G A SNP NSUN2 ENST00000264670 human ensembl 70_37 -1 known silent c.144 p.F48 0.999 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 28 26 48.15 49 0 0.00 NSUN3 63899 genome.wustl.edu 37 3 93813015 93813015 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 93813015 93813015 G C SNP NSUN3 ENST00000314622 human ensembl 70_37 +1 known silent c.498 p.L166 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 48 12 20.00 73 0 0.00 NSUN3 63899 genome.wustl.edu 37 3 93813021 93813021 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 93813021 93813021 G C SNP NSUN3 ENST00000314622 human ensembl 70_37 +1 known missense c.504 p.L168F 0.875 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 32 14 30.43 49 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46806552 46806552 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46806552 46806552 C T SNP NSUN4 ENST00000474844 human ensembl 70_37 +1 known silent c.54 p.L18 0.001 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC ENSG00000117481 59 52 46.85 86 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46808526 46808526 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 46808526 46808526 G T SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NSUN4 HGNC ENSG00000117481 31 4 11.43 41 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46808639 46808639 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 46808639 46808639 G A SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors NSUN4 HGNC ENSG00000117481 62 22 26.19 67 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46808703 46808703 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46808703 46808703 C T SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors NSUN4 HGNC ENSG00000117481 49 40 44.94 89 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46809451 46809451 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 46809451 46809451 C T SNP NSUN4 ENST00000495427 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NSUN4 HGNC ENSG00000117481 13 10 43.48 18 0 0.00 NSUN4 387338 genome.wustl.edu 37 1 46826421 46826421 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 46826421 46826421 G A SNP NSUN4 ENST00000474844 human ensembl 70_37 +1 known missense c.799 p.E267K 0.997 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC ENSG00000117481 22 13 37.14 34 0 0.00 NSUN5 55695 genome.wustl.edu 37 7 72717964 72717964 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 72717964 72717964 G A SNP NSUN5 ENST00000438747 human ensembl 70_37 -1 known missense c.1004 p.A335V 0.996 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 20 7 25.93 39 0 0.00 NSUN5 55695 genome.wustl.edu 37 7 72721671 72721671 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 72721671 72721671 C T SNP NSUN5 ENST00000438747 human ensembl 70_37 -1 known silent c.300 p.A100 0.982 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 39 13 25.00 52 0 0.00 NSUN5P1 155400 genome.wustl.edu 37 7 75045895 75045895 + RNA SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 75045895 75045895 G A SNP NSUN5P1 ENST00000393633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NSUN5P1 HGNC ENSG00000223705 122 20 13.99 122 0 0.00 NSUN5P2 260294 genome.wustl.edu 37 7 72419308 72419308 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 72419308 72419308 C G SNP NSUN5P2 ENST00000388955 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors NSUN5P2 HGNC ENSG00000106133 57 11 16.18 73 0 0.00 NSUN6 221078 genome.wustl.edu 37 10 18837049 18837049 + Nonsense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 18837049 18837049 G A SNP NSUN6 ENST00000377304 human ensembl 70_37 -1 known nonsense c.1189 p.Q397* 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 34 4 10.53 23 0 0.00 NSUN6 221078 genome.wustl.edu 37 10 18937524 18937524 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 10 18937524 18937524 C T SNP NSUN6 ENST00000377304 human ensembl 70_37 -1 known silent c.126 p.L42 0.963 NULL pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 15 8 34.78 16 0 0.00 NSUN7 79730 genome.wustl.edu 37 4 40752791 40752791 + Silent SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 40752791 40752791 G C SNP NSUN7 ENST00000381782 human ensembl 70_37 +1 known silent c.81 p.L27 0.010 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 63 15 19.23 96 0 0.00 NSUN7 79730 genome.wustl.edu 37 4 40792633 40792633 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 40792633 40792633 C A SNP NSUN7 ENST00000381782 human ensembl 70_37 +1 known missense c.1051 p.H351N 0.862 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 36 10 21.74 42 0 0.00 NT5C 30833 genome.wustl.edu 37 17 73126733 73126733 + Splice_Site SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73126733 73126733 C T SNP NT5C ENST00000582170 human ensembl 70_37 -1 putative splice_site c.452-1 e5-1 0.006 - - - no_errors NT5C HGNC ENSG00000125458 145 23 13.69 144 0 0.00 NT5C 30833 genome.wustl.edu 37 17 73127279 73127279 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73127279 73127279 G A SNP NT5C ENST00000245552 human ensembl 70_37 -1 known missense c.272 p.P91L 0.089 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5C HGNC ENSG00000125458 35 7 16.67 44 0 0.00 NT5C1A 84618 genome.wustl.edu 37 1 40125018 40125018 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 40125018 40125018 C G SNP NT5C1A ENST00000235628 human ensembl 70_37 -1 known missense c.882 p.K294N 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 26 6 18.75 22 0 0.00 NT5C1A 84618 genome.wustl.edu 37 1 40131256 40131256 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 40131256 40131256 C T SNP NT5C1A ENST00000235628 human ensembl 70_37 -1 known missense c.370 p.V124I 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 23 10 30.30 41 0 0.00 NT5C1B 93034 genome.wustl.edu 37 2 18765969 18765969 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 18765969 18765969 C T SNP NT5C1B ENST00000406971 human ensembl 70_37 -1 known missense c.467 p.R156H 0.000 NULL NULL - no_errors NT5C1B HGNC ENSG00000185013 13 7 35.00 8 0 0.00 NT5C1B 93034 genome.wustl.edu 37 2 18768822 18768822 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 18768822 18768822 C G SNP NT5C1B ENST00000359846 human ensembl 70_37 -1 known missense c.67 p.E23Q 0.272 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 30 16 34.78 50 0 0.00 NT5C2 22978 genome.wustl.edu 37 10 104859772 104859772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 104859772 104859772 C T SNP NT5C2 ENST00000343289 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 94 32 25.40 148 0 0.00 NT5C2 22978 genome.wustl.edu 37 10 104860427 104860427 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 104860427 104860427 G A SNP NT5C2 ENST00000369857 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C2 HGNC ENSG00000076685 95 39 29.10 194 0 0.00 NT5C2 22978 genome.wustl.edu 37 10 104861027 104861027 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104861027 104861027 C A SNP NT5C2 ENST00000343289 human ensembl 70_37 -1 known missense c.446 p.R149I 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 21 13 38.24 24 0 0.00 NT5C2 22978 genome.wustl.edu 37 10 104913048 104913048 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 104913048 104913048 C A SNP NT5C2 ENST00000423468 human ensembl 70_37 -1 known missense c.14 p.G5V 1.000 superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 3 36 92.31 19 0 0.00 NT5C3B 115024 genome.wustl.edu 37 17 39988679 39988679 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39988679 39988679 C T SNP NT5C3L ENST00000269534 human ensembl 70_37 -1 known silent c.255 p.R85 0.002 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3L HGNC ENSG00000141698 108 32 22.86 97 0 0.00 NT5C3B 115024 genome.wustl.edu 37 17 39991472 39991472 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39991472 39991472 C T SNP NT5C3L ENST00000269534 human ensembl 70_37 -1 known missense c.140 p.R47Q 1.000 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3L HGNC ENSG00000141698 54 10 15.62 57 0 0.00 NT5DC1 221294 genome.wustl.edu 37 6 116558139 116558139 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 116558139 116558139 G T SNP NT5DC1 ENST00000319550 human ensembl 70_37 +1 known missense c.813 p.E271D 0.999 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 12 3 20.00 27 0 0.00 NT5DC2 64943 genome.wustl.edu 37 3 52558597 52558597 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52558597 52558597 G A SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known silent c.1563 p.T521 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 31 13 29.55 25 0 0.00 NT5DC2 64943 genome.wustl.edu 37 3 52562533 52562533 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52562533 52562533 C T SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known missense c.571 p.E191K 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 36 19 34.55 29 0 0.00 NT5DC2 64943 genome.wustl.edu 37 3 52563276 52563276 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 52563276 52563276 C T SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known missense c.307 p.D103N 0.593 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 87 59 40.41 92 0 0.00 NT5DC2 64943 genome.wustl.edu 37 3 52568558 52568558 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 52568558 52568558 C G SNP NT5DC2 ENST00000307076 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 21 13 38.24 36 0 0.00 NT5DC2 64943 genome.wustl.edu 37 3 52568558 52568558 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 52568558 52568558 C G SNP NT5DC2 ENST00000307076 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 58 32 35.56 110 0 0.00 NT5DC3 51559 genome.wustl.edu 37 12 104208767 104208767 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104208767 104208767 A G SNP NT5DC3 ENST00000392876 human ensembl 70_37 -1 known missense c.341 p.L114P 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 33 8 19.51 67 0 0.00 NT5DC4 284958 genome.wustl.edu 37 2 113480079 113480079 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113480079 113480079 G C SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel missense c.304 p.E102Q 0.993 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC ENSG00000144130 63 10 13.70 44 0 0.00 NT5DC4 284958 genome.wustl.edu 37 2 113484277 113484277 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113484277 113484277 G A SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel missense c.1132 p.E378K 0.045 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC ENSG00000144130 81 31 27.68 51 0 0.00 NT5DC4 284958 genome.wustl.edu 37 2 113487254 113487254 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113487254 113487254 C T SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel silent c.1221 p.A407 0.005 NULL pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC ENSG00000144130 35 22 38.60 68 0 0.00 NT5E 4907 genome.wustl.edu 37 6 86176858 86176858 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 86176858 86176858 G A SNP NT5E ENST00000257770 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_Metallo_PEstase_dom pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 65 11 14.47 83 0 0.00 NT5E 4907 genome.wustl.edu 37 6 86199239 86199239 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 86199239 86199239 G A SNP NT5E ENST00000257770 human ensembl 70_37 +1 known missense c.1132 p.E378K 0.991 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 36 9 20.00 34 0 0.00 NTF3 4908 genome.wustl.edu 37 12 5603482 5603482 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 5603482 5603482 C T SNP NTF3 ENST00000331010 human ensembl 70_37 +1 known silent c.102 p.L34 0.997 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 19 7 26.92 45 0 0.00 NTF4 4909 genome.wustl.edu 37 19 49561421 49561421 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49561421 49561421 G C SNP NTF4 ENST00000451356 human ensembl 70_37 -1 known missense c.106 p.Q36E 0.964 NULL NULL - no_errors NTF4 HGNC ENSG00000225950 33 10 23.26 30 0 0.00 NTF4 4909 genome.wustl.edu 37 19 49565222 49565222 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49565222 49565222 G C SNP NTF4 ENST00000301411 human ensembl 70_37 -1 known missense c.33 p.I11M 1.000 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-4 - no_errors NTF4 HGNC ENSG00000225950 21 18 46.15 35 0 0.00 NTM 50863 genome.wustl.edu 37 11 132081971 132081971 + Silent SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 132081971 132081971 T C SNP NTM ENST00000539799 human ensembl 70_37 +1 known silent c.456 p.N152 0.963 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NTM HGNC ENSG00000182667 50 18 26.09 61 0 0.00 NTM 50863 genome.wustl.edu 37 11 132205130 132205130 + RNA SNP A A T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 132205130 132205130 A T SNP NTM ENST00000474900 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 12 5 29.41 14 0 0.00 NTMT1 28989 genome.wustl.edu 37 9 132395004 132395004 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 132395004 132395004 G C SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known missense c.22 p.D8H 0.990 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 77 13 14.44 54 0 0.00 NTMT1 28989 genome.wustl.edu 37 9 132395141 132395141 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 132395141 132395141 G C SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known missense c.159 p.L53F 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 38 13 25.49 95 0 0.00 NTMT1 28989 genome.wustl.edu 37 9 132397623 132397623 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 132397623 132397623 C T SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known silent c.552 p.C184 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 89 20 18.35 128 0 0.00 NTN1 9423 genome.wustl.edu 37 17 8926373 8926373 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 8926373 8926373 C T SNP NTN1 ENST00000173229 human ensembl 70_37 +1 known missense c.683 p.S228L 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 6 4 40.00 9 0 0.00 NTN3 4917 genome.wustl.edu 37 16 2521965 2521965 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 2521965 2521965 C A SNP NTN3 ENST00000293973 human ensembl 70_37 +1 known missense c.263 p.A88D 0.287 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 66 14 17.50 29 0 0.00 NTN4 59277 genome.wustl.edu 37 12 96063914 96063914 + Nonsense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 96063914 96063914 C A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known nonsense c.1519 p.E507* 1.000 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 19 8 29.63 80 0 0.00 NTN4 59277 genome.wustl.edu 37 12 96131685 96131685 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 96131685 96131685 G A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known missense c.823 p.H275Y 0.004 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 87 18 17.14 100 0 0.00 NTN4 59277 genome.wustl.edu 37 12 96131749 96131749 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 96131749 96131749 G A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known silent c.759 p.I253 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 59 14 19.18 76 0 0.00 NTNG1 22854 genome.wustl.edu 37 1 107866903 107866903 + Splice_Site SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 107866903 107866903 G T SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known splice_site c.247-1 e2-1 1.000 - - - no_errors NTNG1 HGNC ENSG00000162631 14 3 17.65 61 0 0.00 NTNG1 22854 genome.wustl.edu 37 1 107867344 107867344 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 107867344 107867344 C T SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known silent c.687 p.F229 0.522 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 15 12 44.44 12 0 0.00 NTNG1 22854 genome.wustl.edu 37 1 107867489 107867489 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 107867489 107867489 G A SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known missense c.832 p.E278K 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 59 11 15.71 107 0 0.00 NTNG1 22854 genome.wustl.edu 37 1 107937833 107937833 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 107937833 107937833 C T SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known silent c.945 p.C315 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 169 124 42.32 51 0 0.00 NTNG1 22854 genome.wustl.edu 37 1 107973459 107973459 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 107973459 107973459 G C SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known missense c.1175 p.R392T 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 40 12 23.08 26 0 0.00 NTNG2 84628 genome.wustl.edu 37 9 135042303 135042303 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 135042303 135042303 G C SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.85 p.D29H 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 95 17 14.91 140 0 0.00 NTNG2 84628 genome.wustl.edu 37 9 135042422 135042422 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 135042422 135042422 C G SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.204 p.F68L 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 28 12 30.00 56 0 0.00 NTNG2 84628 genome.wustl.edu 37 9 135073615 135073615 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 135073615 135073615 G A SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.476 p.R159H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 29 9 23.68 57 0 0.00 NTNG2 84628 genome.wustl.edu 37 9 135073664 135073664 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 135073664 135073664 C T SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known silent c.525 p.F175 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 41 9 18.00 42 0 0.00 NTNG2 84628 genome.wustl.edu 37 9 135102404 135102404 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 135102404 135102404 C T SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known silent c.1026 p.N342 0.963 smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 74 37 33.33 100 0 0.00 NTPCR 84284 genome.wustl.edu 37 1 233091309 233091309 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 233091309 233091309 G C SNP NTPCR ENST00000366627 human ensembl 70_37 +1 known missense c.41 p.G14A 1.000 pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 22 5 18.52 31 0 0.00 NTPCR 84284 genome.wustl.edu 37 1 233112143 233112143 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 233112143 233112143 C A SNP NTPCR ENST00000366627 human ensembl 70_37 +1 known missense c.560 p.S187Y 0.003 NULL pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 22 18 45.00 30 0 0.00 NTRK1 4914 genome.wustl.edu 37 1 156849868 156849868 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 156849868 156849868 C T SNP NTRK1 ENST00000524377 human ensembl 70_37 +1 known silent c.2124 p.S708 0.974 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 47 47 50.00 71 0 0.00 NTRK2 4915 genome.wustl.edu 37 9 87325597 87325597 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 87325597 87325597 G A SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known nonsense c.474 p.W158* 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 55 15 21.43 76 0 0.00 NTRK2 4915 genome.wustl.edu 37 9 87570324 87570324 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 87570324 87570324 C T SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known silent c.2064 p.F688 0.972 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 46 13 22.03 72 0 0.00 NTRK3 4916 genome.wustl.edu 37 15 88576179 88576179 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 88576179 88576179 G T SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known silent c.1494 p.P498 0.007 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 54 7 11.48 34 0 0.00 NTRK3 4916 genome.wustl.edu 37 15 88576247 88576247 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 88576247 88576247 C T SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.1426 p.D476N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 34 16 32.00 52 0 0.00 NTRK3 4916 genome.wustl.edu 37 15 88680693 88680693 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 88680693 88680693 G A SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known silent c.564 p.Y188 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 26 9 25.71 55 0 0.00 NTRK3 4916 genome.wustl.edu 37 15 88680772 88680772 + Missense_Mutation SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 88680772 88680772 A G SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.485 p.F162S 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 22 10 31.25 42 0 0.00 NTRK3 4916 genome.wustl.edu 37 15 88799372 88799372 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 88799372 88799372 G C SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.13 p.L5V 1.000 prints_Tyr_kin_neurotrophic_rcpt_3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 53 20 27.40 37 0 0.00 NTS 4922 genome.wustl.edu 37 12 86276129 86276129 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 86276129 86276129 C G SNP NTS ENST00000256010 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_NeurotensiN,prints_NeurotensiN pfam_NeurotensiN,prints_NeurotensiN - no_errors NTS HGNC ENSG00000133636 20 19 48.72 23 0 0.00 NTSR1 4923 genome.wustl.edu 37 20 61391560 61391560 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 61391560 61391560 G A SNP NTSR1 ENST00000370501 human ensembl 70_37 +1 known missense c.1198 p.D400N 1.000 prints_NT1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor - no_errors NTSR1 HGNC ENSG00000101188 103 32 23.70 84 0 0.00 NUAK1 9891 genome.wustl.edu 37 12 106460917 106460917 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 106460917 106460917 G A SNP NUAK1 ENST00000261402 human ensembl 70_37 -1 known missense c.1649 p.S550F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC ENSG00000074590 57 23 28.75 97 0 0.00 NUAK1 9891 genome.wustl.edu 37 12 106460991 106460991 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 106460991 106460991 C T SNP NUAK1 ENST00000261402 human ensembl 70_37 -1 known silent c.1575 p.L525 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC ENSG00000074590 20 6 23.08 43 0 0.00 NUAK2 81788 genome.wustl.edu 37 1 205273176 205273176 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205273176 205273176 C G SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known missense c.1289 p.S430T 0.005 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 23 7 23.33 29 0 0.00 NUAK2 81788 genome.wustl.edu 37 1 205275364 205275364 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205275364 205275364 G C SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known silent c.642 p.L214 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 39 11 22.00 43 0 0.00 NUAK2 81788 genome.wustl.edu 37 1 205275402 205275402 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205275402 205275402 G C SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known missense c.604 p.Q202E 0.938 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 32 8 20.00 35 0 0.00 NUAK2 81788 genome.wustl.edu 37 1 205280879 205280879 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 205280879 205280879 C T SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known silent c.306 p.E102 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 59 18 23.38 76 0 0.00 NUB1 51667 genome.wustl.edu 37 7 151053226 151053226 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 151053226 151053226 T G SNP NUB1 ENST00000568733 human ensembl 70_37 +1 known missense c.683 p.V228G 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 63 26 29.21 143 0 0.00 NUBP2 10101 genome.wustl.edu 37 16 1838598 1838598 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 1838598 1838598 G A SNP NUBP2 ENST00000262302 human ensembl 70_37 +1 known missense c.699 p.M233I 0.000 NULL pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK - no_errors NUBP2 HGNC ENSG00000095906 48 38 44.19 72 0 0.00 NUBPL 80224 genome.wustl.edu 37 14 32068519 32068519 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 14 32068519 32068519 G A SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.316 p.V106M 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC ENSG00000151413 97 79 44.63 109 0 0.00 NUBPL 80224 genome.wustl.edu 37 14 32295840 32295840 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 32295840 32295840 G A SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.613 p.V205M 1.000 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC ENSG00000151413 4 6 60.00 44 0 0.00 NUBPL 80224 genome.wustl.edu 37 14 32315700 32315700 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 32315700 32315700 G C SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.717 p.M239I 1.000 pfam_ATPase-like_ParA/MinD pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC ENSG00000151413 34 33 49.25 45 0 0.00 NUBPL 80224 genome.wustl.edu 37 14 32315788 32315788 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 32315788 32315788 G C SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.805 p.E269Q 1.000 NULL pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC ENSG00000151413 56 11 16.42 49 0 0.00 NUBPL 80224 genome.wustl.edu 37 14 32328428 32328428 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 32328428 32328428 G A SNP NUBPL ENST00000418681 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUBPL HGNC ENSG00000151413 30 14 31.82 32 0 0.00 NUCB1 4924 genome.wustl.edu 37 19 49404117 49404117 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 49404117 49404117 C T SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.64 p.R22C 0.162 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC ENSG00000104805 89 20 18.35 84 0 0.00 NUCB1 4924 genome.wustl.edu 37 19 49424486 49424486 + Missense_Mutation SNP G G C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 49424486 49424486 G C SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.1078 p.E360Q 0.998 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC ENSG00000104805 20 3 12.50 20 0 0.00 NUCB1 4924 genome.wustl.edu 37 19 49425609 49425609 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49425609 49425609 G C SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.1314 p.Q438H 0.994 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC ENSG00000104805 163 25 13.30 249 0 0.00 NUDC 10726 genome.wustl.edu 37 1 27267965 27267965 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27267965 27267965 C T SNP NUDC ENST00000321265 human ensembl 70_37 +1 known silent c.177 p.F59 0.999 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDC HGNC ENSG00000090273 35 8 18.18 21 0 0.00 NUDC 10726 genome.wustl.edu 37 1 27271862 27271862 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27271862 27271862 C G SNP NUDC ENST00000484772 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUDC HGNC ENSG00000090273 31 5 13.51 45 0 0.00 NUDC 10726 genome.wustl.edu 37 1 27271871 27271871 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27271871 27271871 C A SNP NUDC ENST00000484772 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors NUDC HGNC ENSG00000090273 34 8 19.05 53 0 0.00 NUDC 10726 genome.wustl.edu 37 1 27272631 27272631 + Nonsense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27272631 27272631 C T SNP NUDC ENST00000321265 human ensembl 70_37 +1 known nonsense c.955 p.Q319* 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDC HGNC ENSG00000090273 53 8 13.11 89 0 0.00 NUDCD3 23386 genome.wustl.edu 37 7 44524810 44524810 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44524810 44524810 C T SNP NUDCD3 ENST00000355451 human ensembl 70_37 -1 known missense c.266 p.R89K 0.915 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD3 HGNC ENSG00000015676 30 26 46.43 40 0 0.00 NUDT1 4521 genome.wustl.edu 37 7 2284330 2284330 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 2284330 2284330 G C SNP NUDT1 ENST00000343985 human ensembl 70_37 +1 known missense c.190 p.E64Q 0.968 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC ENSG00000106268 5 4 44.44 13 0 0.00 NUDT10 170685 genome.wustl.edu 37 X 51075857 51075857 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 51075857 51075857 G A SNP NUDT10 ENST00000356450 human ensembl 70_37 +1 known missense c.40 p.E14K 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 130 63 32.64 208 0 0.00 NUDT10 170685 genome.wustl.edu 37 X 51076121 51076121 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 51076121 51076121 G T SNP NUDT10 ENST00000356450 human ensembl 70_37 +1 known nonsense c.304 p.E102* 0.968 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 68 25 26.88 78 0 0.00 NUDT12 83594 genome.wustl.edu 37 5 102895902 102895902 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 102895902 102895902 A C SNP NUDT12 ENST00000230792 human ensembl 70_37 -1 known missense c.48 p.F16L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 9 6 40.00 28 0 0.00 NUDT12 83594 genome.wustl.edu 37 5 102895948 102895948 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 102895948 102895948 A G SNP NUDT12 ENST00000230792 human ensembl 70_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 7 4 36.36 27 0 0.00 NUDT14 256281 genome.wustl.edu 37 14 105643016 105643016 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 105643016 105643016 C T SNP NUDT14 ENST00000392568 human ensembl 70_37 -1 known missense c.283 p.G95S 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC ENSG00000183828 95 17 15.18 146 0 0.00 NUDT14 256281 genome.wustl.edu 37 14 105643316 105643316 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 105643316 105643316 C T SNP NUDT14 ENST00000392568 human ensembl 70_37 -1 known silent c.174 p.V58 0.999 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC ENSG00000183828 36 11 23.40 52 0 0.00 NUDT16 131870 genome.wustl.edu 37 3 131100998 131100998 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 131100998 131100998 G C SNP NUDT16 ENST00000521288 human ensembl 70_37 +1 known missense c.247 p.E83Q 0.915 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC ENSG00000198585 41 20 32.79 49 0 0.00 NUDT16L1 84309 genome.wustl.edu 37 16 4744305 4744305 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4744305 4744305 G C SNP NUDT16L1 ENST00000405142 human ensembl 70_37 +1 known silent c.480 p.P160 0.998 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16L1 HGNC ENSG00000168101 22 3 12.00 25 0 0.00 NUDT16L1 84309 genome.wustl.edu 37 16 4745112 4745112 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4745112 4745112 G A SNP NUDT16L1 ENST00000304301 human ensembl 70_37 +1 known missense c.568 p.E190K 1.000 superfamily_NUDIX_hydrolase_dom-like superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16L1 HGNC ENSG00000168101 46 27 36.99 64 0 0.00 NUDT17 200035 genome.wustl.edu 37 1 145588598 145588598 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 145588598 145588598 C T SNP NUDT17 ENST00000460879 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NUDT17 HGNC ENSG00000186364 23 12 34.29 59 0 0.00 NUDT19 390916 genome.wustl.edu 37 19 33183126 33183126 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 33183126 33183126 C T SNP NUDT19 ENST00000397061 human ensembl 70_37 +1 novel missense c.260 p.P87L 0.597 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT19 HGNC ENSG00000213965 22 8 26.67 17 0 0.00 NUDT19 390916 genome.wustl.edu 37 19 33202660 33202660 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 33202660 33202660 G A SNP NUDT19 ENST00000397061 human ensembl 70_37 +1 novel missense c.925 p.D309N 1.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT19 HGNC ENSG00000213965 18 14 43.75 55 0 0.00 NUDT22 84304 genome.wustl.edu 37 11 63995093 63995093 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 63995093 63995093 G A SNP NUDT22 ENST00000279206 human ensembl 70_37 +1 known silent c.534 p.V178 0.851 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT22 HGNC ENSG00000149761 42 22 34.38 61 0 0.00 NUDT3 11165 genome.wustl.edu 37 6 34261289 34261289 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 34261289 34261289 C T SNP NUDT3 ENST00000358797 human ensembl 70_37 -1 known silent c.279 p.T93 0.048 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000112664 68 20 22.73 71 0 0.00 NUDT3 11165 genome.wustl.edu 37 6 34309715 34309715 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34309715 34309715 C T SNP NUDT3 ENST00000358797 human ensembl 70_37 -1 known missense c.134 p.R45K 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000112664 39 39 50.00 53 0 0.00 NUDT6 11162 genome.wustl.edu 37 4 123843699 123843699 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123843699 123843699 C T SNP NUDT6 ENST00000304430 human ensembl 70_37 -1 known nonsense c.29 p.W10* 0.070 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 5 2 28.57 15 0 0.00 NUDT7 283927 genome.wustl.edu 37 16 77756503 77756503 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 77756503 77756503 G A SNP NUDT7 ENST00000268533 human ensembl 70_37 +1 known silent c.24 p.E8 0.189 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 77 21 21.43 76 0 0.00 NUDT7 283927 genome.wustl.edu 37 16 77775505 77775505 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 77775505 77775505 G T SNP NUDT7 ENST00000564085 human ensembl 70_37 +1 putative missense c.469 p.G157W 0.997 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 21 13 38.24 41 0 0.00 NUDT8 254552 genome.wustl.edu 37 11 67396431 67396431 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67396431 67396431 C T SNP NUDT8 ENST00000376693 human ensembl 70_37 -1 known missense c.286 p.E96K 0.017 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT8 HGNC ENSG00000167799 28 29 50.88 75 0 0.00 NUDT9 53343 genome.wustl.edu 37 4 88356180 88356180 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 88356180 88356180 C T SNP NUDT9 ENST00000302174 human ensembl 70_37 +1 known missense c.155 p.S52F 0.960 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT9 HGNC ENSG00000170502 45 17 27.42 76 0 0.00 NUF2 83540 genome.wustl.edu 37 1 163317606 163317606 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 163317606 163317606 G A SNP NUF2 ENST00000271452 human ensembl 70_37 +1 known silent c.1002 p.L334 0.923 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 41 9 18.00 29 0 0.00 NUF2 83540 genome.wustl.edu 37 1 163318778 163318778 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163318778 163318778 C T SNP NUF2 ENST00000271452 human ensembl 70_37 +1 known nonsense c.1168 p.R390* 0.065 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 19 6 24.00 28 0 0.00 NUFIP1 26747 genome.wustl.edu 37 13 45515443 45515443 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 45515443 45515443 G T SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known missense c.1386 p.D462E 1.000 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 36 4 10.00 42 0 0.00 NUFIP1 26747 genome.wustl.edu 37 13 45517691 45517691 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 45517691 45517691 C G SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known missense c.1257 p.K419N 0.015 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 129 33 20.37 212 0 0.00 NUFIP1 26747 genome.wustl.edu 37 13 45563518 45563518 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 45563518 45563518 G T SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known silent c.54 p.P18 0.001 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 25 4 13.79 25 0 0.00 NUFIP2 57532 genome.wustl.edu 37 17 27614309 27614309 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 27614309 27614309 C G SNP NUFIP2 ENST00000225388 human ensembl 70_37 -1 known missense c.703 p.E235Q 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 41 32 43.84 32 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27884506 27884506 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 8 27884506 27884506 C A SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.2218 p.G740W 0.642 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 36 4 10.00 57 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27886806 27886806 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 27886806 27886806 G T SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.2131 p.Q711K 1.000 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 30 24 44.44 70 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27887920 27887920 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 27887920 27887920 C A SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.1924 p.G642W 1.000 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 19 4 17.39 44 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27888822 27888822 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 27888822 27888822 C G SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.1846 p.E616Q 0.674 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 19 11 36.67 26 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27918098 27918098 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 27918098 27918098 C G SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known silent c.942 p.V314 0.736 pfam_Dynamin_GTPase pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 28 12 30.00 39 0 0.00 NUGGC 389643 genome.wustl.edu 37 8 27922101 27922101 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 27922101 27922101 C T SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.859 p.V287M 0.966 pfam_Dynamin_GTPase pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 14 32 69.57 93 0 0.00 NUMA1 4926 genome.wustl.edu 37 11 71719762 71719762 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 71719762 71719762 C T SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.5188 p.E1730K 0.923 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 11 7 38.89 32 0 0.00 NUMA1 4926 genome.wustl.edu 37 11 71724989 71724989 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 71724989 71724989 G A SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.3560 p.S1187L 0.020 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 26 20 43.48 92 0 0.00 NUMA1 4926 genome.wustl.edu 37 11 71726075 71726075 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 71726075 71726075 G A SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.2474 p.A825V 0.886 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 31 9 22.50 41 0 0.00 NUMB 8650 genome.wustl.edu 37 14 73743895 73743895 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 73743895 73743895 C G SNP NUMB ENST00000355058 human ensembl 70_37 -1 known missense c.1347 p.K449N 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC ENSG00000133961 5 2 28.57 30 0 0.00 NUMB 8650 genome.wustl.edu 37 14 73749139 73749139 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 73749139 73749139 C T SNP NUMB ENST00000355058 human ensembl 70_37 -1 known missense c.1024 p.E342K 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC ENSG00000133961 58 9 13.43 62 0 0.00 NUMB 8650 genome.wustl.edu 37 14 73759577 73759577 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 73759577 73759577 G A SNP NUMB ENST00000355058 human ensembl 70_37 -1 known silent c.315 p.L105 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC ENSG00000133961 22 25 53.19 28 0 0.00 NUMBL 9253 genome.wustl.edu 37 19 41179322 41179322 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 41179322 41179322 C T SNP NUMBL ENST00000252891 human ensembl 70_37 -1 known silent c.963 p.R321 1.000 pfam_Numb_domain,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMBL HGNC ENSG00000105245 24 4 14.29 24 0 0.00 NUP107 57122 genome.wustl.edu 37 12 69082777 69082777 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 69082777 69082777 G A SNP NUP107 ENST00000229179 human ensembl 70_37 +1 known missense c.44 p.R15Q 0.999 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 38 5 11.63 58 0 0.00 NUP107 57122 genome.wustl.edu 37 12 69083385 69083385 + Nonsense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 69083385 69083385 C G SNP NUP107 ENST00000229179 human ensembl 70_37 +1 known nonsense c.173 p.S58* 1.000 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 18 5 21.74 43 0 0.00 NUP133 55746 genome.wustl.edu 37 1 229586486 229586487 + RNA INS - - TTG TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 229586486 229586487 - TTG INS NUP133 ENST00000485119 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.007 - - - no_errors NUP133 HGNC ENSG00000069248 4 3 42.86 9 0 0.00 NUP133 55746 genome.wustl.edu 37 1 229596401 229596401 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 229596401 229596401 T A SNP NUP133 ENST00000261396 human ensembl 70_37 -1 known missense c.2801 p.H934L 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 37 5 11.90 52 0 0.00 NUP133 55746 genome.wustl.edu 37 1 229613359 229613359 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229613359 229613359 C T SNP NUP133 ENST00000261396 human ensembl 70_37 -1 known missense c.1741 p.E581K 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 26 6 18.75 61 0 0.00 NUP153 9972 genome.wustl.edu 37 6 17626044 17626044 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 17626044 17626044 G C SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.3989 p.S1330C 0.983 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 24 20 45.45 41 0 0.00 NUP153 9972 genome.wustl.edu 37 6 17632951 17632951 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 17632951 17632951 C A SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.2682 p.Q894H 0.999 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 48 22 31.43 34 0 0.00 NUP153 9972 genome.wustl.edu 37 6 17665574 17665574 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 17665574 17665574 T C SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.1111 p.K371E 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 14 8 36.36 37 0 0.00 NUP153 9972 genome.wustl.edu 37 6 17669684 17669684 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 17669684 17669684 C G SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.946 p.E316Q 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 28 23 45.10 39 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37302895 37302895 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 37302895 37302895 C G SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.3433 p.E1145Q 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 41 8 16.33 40 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37307504 37307504 + Missense_Mutation SNP G G C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 5 37307504 37307504 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.2798 p.S933C 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 39 9 18.75 81 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37310788 37310788 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37310788 37310788 C G SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.2494 p.E832Q 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 17 9 34.62 20 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37331856 37331856 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37331856 37331856 C A SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known silent c.1560 p.L520 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 12 37 75.51 41 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37341221 37341221 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37341221 37341221 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known nonsense c.1217 p.S406* 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 36 28 43.08 52 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37341341 37341341 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 5 37341341 37341341 A G SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.1097 p.V366A 0.999 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 11 15 57.69 15 0 0.00 NUP155 9631 genome.wustl.edu 37 5 37364401 37364401 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 37364401 37364401 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.243 p.I81M 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 38 23 37.70 44 0 0.00 NUP160 23279 genome.wustl.edu 37 11 47819353 47819353 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 47819353 47819353 G C SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.3267 p.I1089M 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 29 9 23.68 37 0 0.00 NUP160 23279 genome.wustl.edu 37 11 47823452 47823452 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 47823452 47823452 C T SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.2806 p.E936K 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 9 4 30.77 17 0 0.00 NUP160 23279 genome.wustl.edu 37 11 47858549 47858549 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 47858549 47858549 C T SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.832 p.D278N 1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 22 6 21.43 25 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131742975 131742975 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131742975 131742975 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.1360 p.L454 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 54 6 10.00 47 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131747281 131747281 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 131747281 131747281 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.2064 p.T688 0.993 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 80 25 23.81 135 1 0.74 NUP188 23511 genome.wustl.edu 37 9 131747303 131747303 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747303 131747303 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC ENSG00000095319 67 39 36.79 135 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131747323 131747323 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747323 131747323 G C SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors NUP188 HGNC ENSG00000095319 56 32 36.36 115 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131747407 131747407 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747407 131747407 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC ENSG00000095319 11 15 57.69 37 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131747420 131747420 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747420 131747420 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC ENSG00000095319 9 12 57.14 35 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131752436 131752436 + Silent SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 131752436 131752436 A G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.2571 p.K857 0.998 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 40 26 38.24 100 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131764003 131764003 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 131764003 131764003 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known nonsense c.4039 p.Q1347* 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 49 9 15.52 72 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131765678 131765678 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131765678 131765678 C G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known missense c.4379 p.S1460C 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 29 20 40.82 49 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131765678 131765678 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 131765678 131765678 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known missense c.4379 p.S1460F 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 33 19 36.54 52 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131768560 131768560 + Silent SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 131768560 131768560 C G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.4986 p.L1662 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 39 14 26.42 57 0 0.00 NUP188 23511 genome.wustl.edu 37 9 131768567 131768567 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 131768567 131768567 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known nonsense c.4993 p.Q1665* 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 42 13 23.64 56 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135262642 135262642 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 135262642 135262642 C T SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.747 p.L249 0.416 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 17 13 43.33 39 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135276246 135276246 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 135276246 135276246 A G SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known missense c.1522 p.T508A 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 59 20 25.32 96 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135282130 135282130 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 135282130 135282130 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.2028 p.V676 0.835 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 45 16 26.23 66 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135286123 135286123 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 135286123 135286123 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known missense c.2380 p.E794K 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 23 10 30.30 50 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135300800 135300800 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 135300800 135300800 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.3447 p.V1149 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 47 16 25.40 49 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135327944 135327944 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 135327944 135327944 C A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.5397 p.T1799 1.000 NULL pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 19 3 13.64 41 0 0.00 NUP205 23165 genome.wustl.edu 37 7 135330313 135330313 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 135330313 135330313 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.5781 p.S1927 0.995 NULL pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 5 26 83.87 56 0 0.00 NUP210 23225 genome.wustl.edu 37 3 13381483 13381483 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 13381483 13381483 G A SNP NUP210 ENST00000254508 human ensembl 70_37 -1 known silent c.3342 p.I1114 1.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 50 7 12.28 54 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 153995690 153995690 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 153995690 153995690 C T SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known silent c.4206 p.L1402 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 60 11 15.49 47 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 154000067 154000067 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154000067 154000067 C G SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known missense c.3862 p.E1288Q 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 59 51 46.36 82 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 154018618 154018618 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 154018618 154018618 G A SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known missense c.3623 p.A1208V 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 46 24 34.29 34 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 154031136 154031136 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154031136 154031136 C A SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known nonsense c.2884 p.E962* 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 8 5 38.46 11 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 154076644 154076644 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154076644 154076644 G A SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known missense c.1663 p.H555Y 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 62 15 19.48 50 0 0.00 NUP210L 91181 genome.wustl.edu 37 1 154098850 154098850 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154098850 154098850 C G SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known silent c.1275 p.L425 0.987 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 42 21 32.81 80 0 0.00 NUP210P1 255330 genome.wustl.edu 37 3 126382235 126382235 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 126382235 126382235 C T SNP NUP210P1 ENST00000357061 human ensembl 70_37 +1 known rna NULL NULL 0.070 - - - no_errors NUP210P1 HGNC ENSG00000198284 40 5 11.11 76 0 0.00 NUP214 8021 genome.wustl.edu 37 9 134050876 134050876 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 134050876 134050876 C T SNP NUP214 ENST00000451030 human ensembl 70_37 +1 known nonsense c.3190 p.Q1064* 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 49 36 42.35 86 0 0.00 NUP214 8021 genome.wustl.edu 37 9 134053762 134053762 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 134053762 134053762 G C SNP NUP214 ENST00000451030 human ensembl 70_37 +1 known missense c.3387 p.L1129F 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 56 12 17.65 40 0 0.00 NUP37 79023 genome.wustl.edu 37 12 102505983 102505983 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 102505983 102505983 G C SNP NUP37 ENST00000251074 human ensembl 70_37 -1 known missense c.184 p.Q62E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC ENSG00000075188 28 22 44.00 41 0 0.00 NUP37 79023 genome.wustl.edu 37 12 102512330 102512330 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102512330 102512330 T G SNP NUP37 ENST00000543021 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NUP37 HGNC ENSG00000075188 16 13 44.83 27 0 0.00 NUP43 348995 genome.wustl.edu 37 6 150067800 150067800 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150067800 150067800 G A SNP NUP43 ENST00000367403 human ensembl 70_37 -1 known silent c.15 p.L5 0.000 NULL superfamily_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 16 13 44.83 14 0 0.00 NUP50 10762 genome.wustl.edu 37 22 45580467 45580467 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 45580467 45580467 G C SNP NUP50 ENST00000347635 human ensembl 70_37 +1 known missense c.1338 p.L446F 0.137 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 100 28 21.88 125 0 0.00 NUP50 10762 genome.wustl.edu 37 22 45580493 45580493 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 45580493 45580493 C T SNP NUP50 ENST00000347635 human ensembl 70_37 +1 known missense c.1364 p.A455V 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 98 30 23.44 128 1 0.78 NUP54 53371 genome.wustl.edu 37 4 77051823 77051823 + Nonsense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 77051823 77051823 G A SNP NUP54 ENST00000264883 human ensembl 70_37 -1 known nonsense c.1042 p.Q348* 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 30 5 14.29 72 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50411685 50411685 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 50411685 50411685 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known silent c.1380 p.T460 0.002 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 21 13 38.24 20 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50411753 50411753 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50411753 50411753 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.1312 p.E438K 0.999 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 126 41 24.40 154 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50412023 50412023 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50412023 50412023 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.1042 p.E348K 1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 30 11 26.83 44 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50412866 50412866 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 50412866 50412866 G C SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.199 p.P67A 0.045 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 93 46 32.39 175 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50412967 50412967 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50412967 50412967 G T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.98 p.S33Y 1.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 33 28 45.90 74 0 0.00 NUP62 23636 genome.wustl.edu 37 19 50413062 50413062 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50413062 50413062 C G SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 54 9 14.29 58 0 0.00 NUP85 79902 genome.wustl.edu 37 17 73201869 73201869 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73201869 73201869 G A SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.13 p.D5N 0.997 NULL pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 62 10 13.89 75 0 0.00 NUP85 79902 genome.wustl.edu 37 17 73206024 73206024 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 73206024 73206024 C G SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.234 p.I78M 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 51 45 46.88 81 0 0.00 NUP85 79902 genome.wustl.edu 37 17 73208116 73208116 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73208116 73208116 C T SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.320 p.S107L 0.992 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 13 8 38.10 36 0 0.00 NUP88 4927 genome.wustl.edu 37 17 5290743 5290743 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5290743 5290743 C T SNP NUP88 ENST00000573584 human ensembl 70_37 -1 known missense c.1879 p.E627K 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 28 12 30.00 58 0 0.00 NUP88 4927 genome.wustl.edu 37 17 5322971 5322971 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5322971 5322971 C G SNP NUP88 ENST00000572019 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NUP88 HGNC ENSG00000108559 11 5 31.25 8 0 0.00 NUP93 9688 genome.wustl.edu 37 16 56839461 56839461 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 56839461 56839461 G A SNP NUP93 ENST00000308159 human ensembl 70_37 +1 known missense c.406 p.E136K 0.998 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 54 40 42.11 65 0 0.00 NUP93 9688 genome.wustl.edu 37 16 56864512 56864512 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 56864512 56864512 G A SNP NUP93 ENST00000308159 human ensembl 70_37 +1 known missense c.1000 p.A334T 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 101 14 12.17 119 0 0.00 NUP98 4928 genome.wustl.edu 37 11 3740736 3740736 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 3740736 3740736 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.2305 p.L769V 1.000 pfam_Peptidase_S59,superfamily_Peptidase_S59 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 36 21 36.84 31 0 0.00 NUP98 4928 genome.wustl.edu 37 11 3740767 3740767 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 3740767 3740767 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.2274 p.I758M 1.000 pfam_Peptidase_S59,superfamily_Peptidase_S59 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 20 11 35.48 41 0 0.00 NUP98 4928 genome.wustl.edu 37 11 3774579 3774579 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 3774579 3774579 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.1234 p.L412V 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 35 11 23.91 42 0 0.00 NUP98 4928 genome.wustl.edu 37 11 3781798 3781798 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 3781798 3781798 G A SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.1145 p.S382L 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 36 22 37.93 47 0 0.00 NUPL1 9818 genome.wustl.edu 37 13 25875932 25875932 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 25875932 25875932 C A SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.21 p.F7L 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 48 16 25.00 43 0 0.00 NUPL1 9818 genome.wustl.edu 37 13 25889520 25889520 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 25889520 25889520 G C SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.600 p.L200F 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 226 175 43.64 333 0 0.00 NUPL1 9818 genome.wustl.edu 37 13 25889520 25889520 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 25889520 25889520 G C SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.600 p.L200F 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 41 30 41.67 45 0 0.00 NUPL1 9818 genome.wustl.edu 37 13 25894700 25894700 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 25894700 25894700 C G SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.743 p.P248R 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 60 10 14.29 85 0 0.00 NUPR1 26471 genome.wustl.edu 37 16 28549402 28549402 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 28549402 28549402 C G SNP NUPR1 ENST00000324873 human ensembl 70_37 -1 known missense c.187 p.E63Q 1.000 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 53 7 11.67 75 0 0.00 NUPR1 26471 genome.wustl.edu 37 16 28550171 28550171 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 28550171 28550171 C T SNP NUPR1 ENST00000324873 human ensembl 70_37 -1 known missense c.58 p.E20K 0.929 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 25 6 19.35 45 0 0.00 NUSAP1 51203 genome.wustl.edu 37 15 41625063 41625063 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 41625063 41625063 C G SNP NUSAP1 ENST00000558123 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUSAP1 HGNC ENSG00000137804 5 11 68.75 28 0 0.00 NUSAP1 51203 genome.wustl.edu 37 15 41625245 41625245 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 41625245 41625245 G A SNP NUSAP1 ENST00000559596 human ensembl 70_37 +1 known silent c.90 p.L30 0.414 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 5 3 37.50 18 0 0.00 NUSAP1 51203 genome.wustl.edu 37 15 41643260 41643260 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41643260 41643260 C T SNP NUSAP1 ENST00000559596 human ensembl 70_37 +1 known silent c.381 p.L127 0.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 32 11 25.58 35 0 0.00 NUSAP1 51203 genome.wustl.edu 37 15 41672441 41672442 + RNA INS - - T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 41672441 41672442 - T INS NUSAP1 ENST00000558123 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors NUSAP1 HGNC ENSG00000137804 15 3 16.67 20 0 0.00 NUTF2 10204 genome.wustl.edu 37 16 67902253 67902253 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67902253 67902253 C T SNP NUTF2 ENST00000219169 human ensembl 70_37 +1 known missense c.110 p.S37L 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC ENSG00000102898 77 18 18.95 87 0 0.00 NUTF2 10204 genome.wustl.edu 37 16 67902436 67902436 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67902436 67902436 C T SNP NUTF2 ENST00000219169 human ensembl 70_37 +1 known silent c.204 p.I68 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC ENSG00000102898 293 64 17.88 302 0 0.00 NVL 4931 genome.wustl.edu 37 1 224477278 224477278 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 224477278 224477278 C T SNP NVL ENST00000281701 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.011 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 47 26 35.62 34 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16860666 16860666 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 16860666 16860666 C T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known nonsense c.1213 p.Q405* 0.617 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 73 18 19.78 57 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16861134 16861134 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16861134 16861134 G T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known nonsense c.1681 p.E561* 0.899 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 5 7 58.33 28 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16870140 16870140 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 16870140 16870140 G A SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known missense c.1874 p.R625H 0.976 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 38 33 46.48 46 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16872844 16872844 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16872844 16872844 G C SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known missense c.2028 p.K676N 0.867 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 66 16 19.51 38 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16890254 16890254 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16890254 16890254 C T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known silent c.2709 p.I903 0.055 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 53 46 46.46 79 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16918399 16918399 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 16918399 16918399 G A SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known missense c.3739 p.E1247K 0.038 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 21 11 34.38 28 0 0.00 NWD1 284434 genome.wustl.edu 37 19 16926106 16926106 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 16926106 16926106 C G SNP NWD1 ENST00000339803 human ensembl 70_37 +1 known nonsense c.4256 p.S1419* 0.040 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 35 12 25.53 55 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62567871 62567871 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 62567871 62567871 G T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known silent c.994 p.R332 0.998 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 44 6 12.00 56 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62567920 62567920 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 62567920 62567920 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 38 9 19.15 62 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62571010 62571010 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571010 62571010 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.250 p.D84N 0.406 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 37 14 27.45 48 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62571336 62571336 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571336 62571336 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.143 p.R48Q 0.070 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 16 12 42.86 19 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62571352 62571352 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571352 62571352 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.127 p.G43S 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 18 10 35.71 20 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62571442 62571442 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 62571442 62571442 C G SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.37 p.D13H 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 34 9 20.93 43 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62571445 62571445 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571445 62571445 C G SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.34 p.D12H 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 36 18 33.33 36 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62572855 62572855 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62572855 62572855 C T SNP NXF1 ENST00000526163 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors NXF1 HGNC ENSG00000162231 42 32 43.24 65 0 0.00 NXF1 10482 genome.wustl.edu 37 11 62572855 62572855 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 62572855 62572855 C T SNP NXF1 ENST00000526163 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors NXF1 HGNC ENSG00000162231 49 20 28.99 166 0 0.00 NXF2 56001 genome.wustl.edu 37 X 101572376 101572376 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 101572376 101572376 C T SNP NXF2 ENST00000330252 human ensembl 70_37 +1 known missense c.274 p.H92Y 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2 HGNC ENSG00000185554 39 23 37.10 64 0 0.00 NXF2B 728343 genome.wustl.edu 37 X 101620151 101620151 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 101620151 101620151 G A SNP NXF2B ENST00000372749 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.023 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 144 29 16.76 141 0 0.00 NXF3 56000 genome.wustl.edu 37 X 102337129 102337129 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 102337129 102337129 G T SNP NXF3 ENST00000425463 human ensembl 70_37 -1 known missense c.677 p.P226H 0.001 NULL pfam_Tap_RNA-bd - no_errors NXF3 HGNC ENSG00000147206 62 9 12.68 98 0 0.00 NXF3 56000 genome.wustl.edu 37 X 102338372 102338372 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 102338372 102338372 G A SNP NXF3 ENST00000395065 human ensembl 70_37 -1 known missense c.494 p.A165V 0.002 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 25 8 24.24 44 0 0.00 NXF4 55999 genome.wustl.edu 37 X 101816848 101816848 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 101816848 101816848 C T SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NXF4 HGNC ENSG00000196970 22 29 56.86 64 0 0.00 NXF4 55999 genome.wustl.edu 37 X 101818421 101818421 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 101818421 101818421 C T SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.161 - - - no_errors NXF4 HGNC ENSG00000196970 74 12 13.95 74 0 0.00 NXF4 55999 genome.wustl.edu 37 X 101818872 101818872 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101818872 101818872 C G SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.031 - - - no_errors NXF4 HGNC ENSG00000196970 46 134 74.44 111 0 0.00 NXF4 55999 genome.wustl.edu 37 X 101821927 101821927 + RNA SNP G G C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 101821927 101821927 G C SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NXF4 HGNC ENSG00000196970 60 44 42.31 123 0 0.00 NXF4 55999 genome.wustl.edu 37 X 101822760 101822760 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 101822760 101822760 C T SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors NXF4 HGNC ENSG00000196970 122 27 18.12 103 0 0.00 NXF5 55998 genome.wustl.edu 37 X 101095505 101095505 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 101095505 101095505 A G SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known missense c.664 p.C222R 0.998 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 168 58 25.44 272 0 0.00 NXF5 55998 genome.wustl.edu 37 X 101095805 101095805 + Splice_Site SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 101095805 101095805 T C SNP NXF5 ENST00000493509 human ensembl 70_37 -1 known splice_site c.481-2 e7-2 0.522 - - - no_errors NXF5 HGNC ENSG00000126952 151 38 20.11 122 0 0.00 NXF5 55998 genome.wustl.edu 37 X 101096287 101096287 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101096287 101096287 G A SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known missense c.337 p.R113W 0.959 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 62 28 31.11 101 0 0.00 NXF5 55998 genome.wustl.edu 37 X 101096477 101096477 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101096477 101096477 C T SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known silent c.294 p.L98 0.948 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 185 51 21.61 143 0 0.00 NXN 64359 genome.wustl.edu 37 17 729261 729261 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 729261 729261 C T SNP NXN ENST00000336868 human ensembl 70_37 -1 known missense c.418 p.A140T 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 30 4 11.76 39 0 0.00 NXN 64359 genome.wustl.edu 37 17 729296 729296 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 729296 729296 C T SNP NXN ENST00000336868 human ensembl 70_37 -1 known missense c.383 p.R128Q 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 16 6 27.27 60 0 0.00 NXN 64359 genome.wustl.edu 37 17 833205 833206 + RNA INS - - AA TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 833205 833206 - AA INS NXN ENST00000571338 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NXN HGNC ENSG00000167693 51 8 13.56 37 0 0.00 NXNL1 115861 genome.wustl.edu 37 19 17566593 17566593 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 17566593 17566593 C T SNP NXNL1 ENST00000301944 human ensembl 70_37 -1 known missense c.502 p.D168N 1.000 NULL superfamily_Thioredoxin-like_fold - no_errors NXNL1 HGNC ENSG00000171773 6 4 40.00 11 0 0.00 NXPE1 120400 genome.wustl.edu 37 11 114393199 114393199 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114393199 114393199 T C SNP NXPE1 ENST00000424269 human ensembl 70_37 -1 known missense c.1135 p.T379A 0.928 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 16 8 33.33 25 0 0.00 NXPE1 120400 genome.wustl.edu 37 11 114393690 114393690 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114393690 114393690 A C SNP NXPE1 ENST00000424269 human ensembl 70_37 -1 known missense c.1019 p.I340R 0.001 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 26 18 40.91 79 0 0.00 NXPE2 120406 genome.wustl.edu 37 11 114578298 114578298 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 114578298 114578298 C T SNP NXPE2 ENST00000541074 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NXPE2 HGNC ENSG00000204361 9 3 25.00 30 0 0.00 NXPE3 91775 genome.wustl.edu 37 3 101525937 101525937 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 101525937 101525937 G C SNP NXPE3 ENST00000273347 human ensembl 70_37 +1 known missense c.889 p.D297H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 46 34 42.50 66 0 0.00 NXPE3 91775 genome.wustl.edu 37 3 101540356 101540356 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 101540356 101540356 G A SNP NXPE3 ENST00000273347 human ensembl 70_37 +1 known missense c.1238 p.R413H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 123 39 24.07 105 0 0.00 NXPH1 30010 genome.wustl.edu 37 7 8475386 8475386 + Missense_Mutation SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 8475386 8475386 A G SNP NXPH1 ENST00000405863 human ensembl 70_37 +1 known missense c.43 p.T15A 1.000 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 28 18 39.13 41 0 0.00 NXPH2 11249 genome.wustl.edu 37 2 139428603 139428603 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 139428603 139428603 G C SNP NXPH2 ENST00000272641 human ensembl 70_37 -1 known missense c.684 p.F228L 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 11 10 47.62 19 0 0.00 NXPH2 11249 genome.wustl.edu 37 2 139428861 139428861 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 139428861 139428861 G A SNP NXPH2 ENST00000272641 human ensembl 70_37 -1 known silent c.426 p.F142 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 26 22 45.83 35 0 0.00 NXPH3 11248 genome.wustl.edu 37 17 47656341 47656341 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 47656341 47656341 C T SNP NXPH3 ENST00000328741 human ensembl 70_37 +1 known silent c.438 p.I146 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 42 55 56.70 58 0 0.00 NXPH3 11248 genome.wustl.edu 37 17 47656636 47656636 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 47656636 47656636 G C SNP NXPH3 ENST00000328741 human ensembl 70_37 +1 known missense c.733 p.D245H 0.122 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 15 8 34.78 22 0 0.00 NXT1 29107 genome.wustl.edu 37 20 23334805 23334805 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 23334805 23334805 G A SNP NXT1 ENST00000254998 human ensembl 70_37 +1 known missense c.127 p.A43T 0.998 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT1 HGNC ENSG00000132661 50 13 20.63 102 0 0.00 NXT2 55916 genome.wustl.edu 37 X 108781313 108781313 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 108781313 108781313 G C SNP NXT2 ENST00000218004 human ensembl 70_37 +1 known missense c.220 p.E74Q 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 46 24 34.29 93 0 0.00 NXT2 55916 genome.wustl.edu 37 X 108785781 108785781 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 108785781 108785781 G T SNP NXT2 ENST00000218004 human ensembl 70_37 +1 known missense c.458 p.G153V 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 17 21 55.26 53 0 0.00 NYAP1 222950 genome.wustl.edu 37 7 100085778 100085778 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100085778 100085778 C G SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known nonsense c.434 p.S145* 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 34 21 38.18 62 0 0.00 NYAP1 222950 genome.wustl.edu 37 7 100086224 100086224 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 100086224 100086224 G A SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known missense c.880 p.A294T 0.018 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 17 6 26.09 18 0 0.00 NYAP1 222950 genome.wustl.edu 37 7 100087051 100087052 + Frame_Shift_Ins INS - - G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100087051 100087052 - G INS NYAP1 ENST00000423930 human ensembl 70_37 +1 known frame_shift_ins c.1707_1708 p.V571fs 0.997:1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 21 6 22.22 37 0 0.00 NYAP1 222950 genome.wustl.edu 37 7 100088718 100088718 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 100088718 100088718 G A SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known silent c.2271 p.Q757 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 36 7 16.28 53 0 0.00 NYAP2 57624 genome.wustl.edu 37 2 226378118 226378118 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 226378118 226378118 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.253 p.G85R 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 23 21 47.73 54 0 0.00 NYAP2 57624 genome.wustl.edu 37 2 226446723 226446723 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 226446723 226446723 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.590 p.R197Q 0.888 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 143 39 21.31 229 0 0.00 NYAP2 57624 genome.wustl.edu 37 2 226446723 226446723 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 226446723 226446723 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.590 p.R197Q 0.888 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 11 4 26.67 25 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24868463 24868463 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 24868463 24868463 C G SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.11 p.S4C 0.315 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 24 15 38.46 49 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24877477 24877477 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 24877477 24877477 G C SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.601 p.D201H 0.990 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 30 22 42.31 42 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24879175 24879175 + Silent SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 14 24879175 24879175 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known silent c.2175 p.P725 0.002 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 31 8 20.51 34 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24882303 24882303 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24882303 24882303 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.2743 p.R915C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 15 10 40.00 35 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24883998 24883998 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24883998 24883998 G A SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.3043 p.E1015K 0.233 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 39 31 44.29 50 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24884524 24884524 + Nonsense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 24884524 24884524 C G SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known nonsense c.3569 p.S1190* 1.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 25 4 13.79 47 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24886443 24886443 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 24886443 24886443 G C SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.5488 p.D1830H 0.988 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 65 21 24.42 67 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24886634 24886634 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 14 24886634 24886634 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known silent c.5679 p.F1893 0.360 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 20 15 42.86 45 0 0.00 NYNRIN 57523 genome.wustl.edu 37 14 24886651 24886651 + Nonstop_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 24886651 24886651 G T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known nonstop c.5696 p.*1899L 0.992 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 35 15 30.00 33 0 0.00 NYX 60506 genome.wustl.edu 37 X 41333611 41333611 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 X 41333611 41333611 C T SNP NYX ENST00000342595 human ensembl 70_37 +1 known missense c.905 p.S302L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 8 8 50.00 8 0 0.00 NYX 60506 genome.wustl.edu 37 X 41333923 41333923 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 41333923 41333923 C T SNP NYX ENST00000342595 human ensembl 70_37 +1 known missense c.1217 p.A406V 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 3 47 94.00 45 0 0.00 FFAR4 338557 genome.wustl.edu 37 10 95326827 95326827 + Missense_Mutation SNP T T G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 95326827 95326827 T G SNP O3FAR1 ENST00000371483 human ensembl 70_37 +1 known missense c.350 p.V117G 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors O3FAR1 HGNC ENSG00000186188 100 33 24.81 85 0 0.00 OARD1 221443 genome.wustl.edu 37 6 41036673 41036673 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 41036673 41036673 G A SNP OARD1 ENST00000424266 human ensembl 70_37 -1 known missense c.263 p.S88L 0.974 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,smart_A1pp,pfscan_A1pp - no_errors OARD1 HGNC ENSG00000124596 58 11 15.71 96 0 0.00 OAS1 4938 genome.wustl.edu 37 12 113354322 113354322 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 113354322 113354322 G C SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.663 p.K221N 0.001 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 65 34 34.34 60 0 0.00 OAS1 4938 genome.wustl.edu 37 12 113354509 113354509 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 113354509 113354509 G A SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.850 p.E284K 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 88 29 24.79 120 0 0.00 OAS1 4938 genome.wustl.edu 37 12 113355471 113355471 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113355471 113355471 G C SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.1004 p.W335S 0.006 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 21 16 43.24 57 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113442868 113442868 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442868 113442868 G A SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 26 21 44.68 38 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113442868 113442868 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442868 113442868 G A SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 29 15 34.09 39 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113442910 113442910 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442910 113442910 G C SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1351 p.E451Q 0.001 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 27 22 44.90 42 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113442910 113442910 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442910 113442910 G C SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1351 p.E451Q 0.001 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 34 14 28.57 35 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113442962 113442962 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113442962 113442962 C G SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1403 p.S468C 0.011 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 8 6 42.86 24 0 0.00 OAS2 4939 genome.wustl.edu 37 12 113448279 113448279 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 113448279 113448279 G C SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.2150 p.R717T 0.007 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 18 7 28.00 22 0 0.00 OAS3 4940 genome.wustl.edu 37 12 113388505 113388505 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 113388505 113388505 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known missense c.1382 p.S461L 0.184 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 24 17 41.46 28 0 0.00 OAS3 4940 genome.wustl.edu 37 12 113401136 113401136 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 113401136 113401136 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known silent c.2103 p.P701 0.640 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 8 29 78.38 35 0 0.00 OAS3 4940 genome.wustl.edu 37 12 113403614 113403614 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 12 113403614 113403614 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known silent c.2469 p.L823 1.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 46 19 28.79 38 0 0.00 OASL 8638 genome.wustl.edu 37 12 121471367 121471367 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121471367 121471367 C G SNP OASL ENST00000257570 human ensembl 70_37 -1 known silent c.378 p.L126 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 41 12 22.22 40 0 0.00 OAT 4942 genome.wustl.edu 37 10 126092460 126092460 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 126092460 126092460 C T SNP OAT ENST00000368845 human ensembl 70_37 -1 known silent c.678 p.A226 0.425 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 29 24 45.28 109 0 0.00 OAT 4942 genome.wustl.edu 37 10 126097341 126097341 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 126097341 126097341 G A SNP OAT ENST00000368845 human ensembl 70_37 -1 known silent c.393 p.F131 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 60 30 33.33 80 0 0.00 OAZ1 4946 genome.wustl.edu 37 19 2271386 2271386 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2271386 2271386 C G SNP OAZ1 ENST00000322297 human ensembl 70_37 +1 known missense c.149 p.S50C 1.000 pfam_ODC_AZ pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC ENSG00000104904 40 18 31.03 63 0 0.00 OAZ1 4946 genome.wustl.edu 37 19 2271912 2271912 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 2271912 2271912 C G SNP OAZ1 ENST00000322297 human ensembl 70_37 +1 known missense c.420 p.I140M 0.978 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC ENSG00000104904 25 9 26.47 27 0 0.00 OAZ2 4947 genome.wustl.edu 37 15 64980915 64980915 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 15 64980915 64980915 G A SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.558 p.S186 0.936 NULL pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 35 26 42.62 54 0 0.00 OAZ2 4947 genome.wustl.edu 37 15 64981338 64981338 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 64981338 64981338 C T SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.384 p.E128 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 2 12 85.71 28 0 0.00 OAZ2 4947 genome.wustl.edu 37 15 64981340 64981340 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 64981340 64981340 C G SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known missense c.382 p.E128Q 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 12 4 25.00 33 0 0.00 OAZ2 4947 genome.wustl.edu 37 15 64981356 64981356 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 64981356 64981356 C T SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 14 4 22.22 32 0 0.00 OAZ3 51686 genome.wustl.edu 37 1 151739351 151739351 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151739351 151739351 C T SNP OAZ3 ENST00000577465 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors OAZ3 HGNC ENSG00000143450 35 36 50.70 46 0 0.00 OBFC1 79991 genome.wustl.edu 37 10 105659861 105659861 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 105659861 105659861 C T SNP OBFC1 ENST00000224950 human ensembl 70_37 -1 known missense c.416 p.R139H 0.101 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 78 48 38.10 112 0 0.00 OBP2A 29991 genome.wustl.edu 37 9 138439087 138439087 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 9 138439087 138439087 C A SNP OBP2A ENST00000340780 human ensembl 70_37 +1 known missense c.270 p.F90L 0.006 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 45 5 10.00 28 0 0.00 OBP2B 29989 genome.wustl.edu 37 9 136081736 136081736 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 136081736 136081736 G C SNP OBP2B ENST00000372034 human ensembl 70_37 -1 known silent c.456 p.L152 0.013 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth - no_errors OBP2B HGNC ENSG00000171102 31 25 44.64 65 0 0.00 OBP2B 29989 genome.wustl.edu 37 9 136083256 136083256 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 136083256 136083256 C T SNP OBP2B ENST00000473737 human ensembl 70_37 -1 known silent c.354 p.L118 0.002 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2B HGNC ENSG00000171102 70 43 38.05 112 0 0.00 OBP2B 29989 genome.wustl.edu 37 9 136083256 136083256 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136083256 136083256 C T SNP OBP2B ENST00000473737 human ensembl 70_37 -1 known silent c.354 p.L118 0.002 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2B HGNC ENSG00000171102 38 64 62.75 68 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228400470 228400470 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 228400470 228400470 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.986 p.R329H 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 63 31 32.98 63 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228402796 228402796 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 228402796 228402796 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.1825 p.L609M 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 1 8 88.89 18 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228434252 228434252 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228434252 228434252 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.3781 p.E1261K 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 36 24 40.00 78 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228447306 228447306 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 228447306 228447306 G C SNP OBSCN ENST00000570156 human ensembl 70_37 +1 putative missense c.4690 p.E1564Q 0.972 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 102 46 30.87 167 1 0.60 OBSCN 84033 genome.wustl.edu 37 1 228456235 228456235 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 228456235 228456235 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.4866 p.P1622 0.009 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 85 13 13.27 109 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228461607 228461607 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 228461607 228461607 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.5274 p.E1758 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 17 3 15.00 62 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228461703 228461703 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 228461703 228461703 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.5370 p.S1790R 0.999 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 23 4 14.81 38 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228464416 228464416 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 228464416 228464416 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.6486 p.T2162 0.053 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 3 3 50.00 8 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228468419 228468419 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 228468419 228468419 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.8119 p.D2707N 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 10 7 41.18 26 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228474614 228474614 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228474614 228474614 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.9418 p.R3140W 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 10 4 28.57 12 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228480445 228480445 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 228480445 228480445 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.10825 p.V3609M 0.518 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 105 21 16.67 100 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228486166 228486166 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 228486166 228486166 C T SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known nonsense c.3028 p.R1010* 0.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 232 75 24.35 292 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228487765 228487765 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 228487765 228487765 C G SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known missense c.3727 p.R1243G 0.022 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 51 15 22.73 69 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228492948 228492948 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228492948 228492948 C T SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known silent c.4422 p.L1474 0.045 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 82 87 51.48 104 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228494860 228494860 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 228494860 228494860 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.12185 p.S4062F 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 26 7 21.21 30 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228496035 228496035 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228496035 228496035 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.12690 p.V4230 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 69 17 19.77 90 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228496904 228496904 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 228496904 228496904 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.12844 p.R4282C 0.065 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 29 10 25.64 36 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228511046 228511046 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 228511046 228511046 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.15391 p.E5131K 0.996 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 36 22 37.93 74 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228520902 228520902 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 228520902 228520902 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.15734 p.R5245Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 30 4 11.76 53 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228524810 228524810 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 228524810 228524810 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.16643 p.S5548L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 54 14 20.29 53 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228539032 228539032 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 228539032 228539032 G T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.18430 p.D6144Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 69 24 25.81 45 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228547607 228547607 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 228547607 228547607 G C SNP OBSCN ENST00000366709 human ensembl 70_37 +1 known missense c.10371 p.K3457N 0.043 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 60 8 11.76 81 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228547665 228547665 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228547665 228547665 C A SNP OBSCN ENST00000366709 human ensembl 70_37 +1 known missense c.10429 p.L3477I 0.004 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 45 8 15.09 62 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228553871 228553871 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 228553871 228553871 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19160 p.S6387L 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 33 26 44.07 83 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228554822 228554822 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 228554822 228554822 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19574 p.T6525M 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 35 7 16.67 26 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228556579 228556579 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228556579 228556579 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19924 p.E6642K 0.477 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 43 17 28.33 53 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228558866 228558866 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228558866 228558866 C G SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.20387 p.S6796C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 8 5 38.46 19 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228559531 228559531 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559531 228559531 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known nonsense c.21052 p.Q7018* 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 11 5 31.25 15 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228559700 228559700 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559700 228559700 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21221 p.S7074L 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 26 20 43.48 40 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228559841 228559841 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 228559841 228559841 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21362 p.S7121F 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 12 13 52.00 42 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228559915 228559915 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559915 228559915 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21436 p.L7146M 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 35 26 42.62 41 0 0.00 OBSCN 84033 genome.wustl.edu 37 1 228560176 228560176 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 228560176 228560176 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known nonsense c.21697 p.Q7233* 0.007 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 36 16 30.19 67 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220418361 220418361 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 220418361 220418361 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4924 p.E1642K 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 24 21 46.67 96 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220418361 220418361 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 220418361 220418361 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4924 p.E1642K 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 29 8 21.62 77 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220419452 220419452 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220419452 220419452 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.4620 p.L1540 0.041 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 29 15 34.09 56 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220420784 220420784 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 220420784 220420784 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4567 p.E1523Q 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 13 21 61.76 53 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220427347 220427347 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 220427347 220427347 G T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.2730 p.A910 0.398 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 83 12 12.63 108 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220428191 220428191 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220428191 220428191 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.2566 p.E856Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 33 4 10.81 56 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220431664 220431664 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 220431664 220431664 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.2022 p.Q674H 0.024 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 16 10 38.46 30 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220432185 220432185 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 2 220432185 220432185 G T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1647 p.F549L 0.262 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 41 5 10.87 71 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220432576 220432576 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 220432576 220432576 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.1398 p.E466 0.918 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 32 16 33.33 78 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220432984 220432984 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 220432984 220432984 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1075 p.V359M 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 2 11 84.62 16 0 0.00 OBSL1 23363 genome.wustl.edu 37 2 220432984 220432984 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 220432984 220432984 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.1075 p.V359M 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 4 24 85.71 22 0 0.00 OC90 729330 genome.wustl.edu 37 8 133051046 133051046 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133051046 133051046 G C SNP OC90 ENST00000443356 human ensembl 70_37 -1 known missense c.619 p.L207V 0.002 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors OC90 HGNC ENSG00000253117 58 43 42.57 45 0 0.00 OCA2 4948 genome.wustl.edu 37 15 28116342 28116342 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 28116342 28116342 C A SNP OCA2 ENST00000354638 human ensembl 70_37 -1 known silent c.2202 p.L734 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 36 8 18.18 45 0 0.00 OCA2 4948 genome.wustl.edu 37 15 28202762 28202762 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 28202762 28202762 G T SNP OCA2 ENST00000354638 human ensembl 70_37 -1 known missense c.1756 p.L586I 1.000 pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 19 3 13.64 22 0 0.00 OCA2 4948 genome.wustl.edu 37 15 28263672 28263672 + Silent SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 15 28263672 28263672 C T SNP OCA2 ENST00000354638 human ensembl 70_37 -1 known silent c.678 p.T226 0.038 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 24 14 36.84 36 0 0.00 OCIAD1 54940 genome.wustl.edu 37 4 48854008 48854008 + Nonstop_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 48854008 48854008 G C SNP OCIAD1 ENST00000396448 human ensembl 70_37 +1 known nonstop c.563 p.*188S 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 23 3 11.54 37 0 0.00 OCIAD1 54940 genome.wustl.edu 37 4 48859304 48859304 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 48859304 48859304 G C SNP OCIAD1 ENST00000264312 human ensembl 70_37 +1 known missense c.622 p.E208Q 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 40 22 35.48 41 0 0.00 OCLN 100506658 genome.wustl.edu 37 5 68840932 68840932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 68840932 68840932 G T SNP OCLN ENST00000355237 human ensembl 70_37 +1 known missense c.1239 p.E413D 1.000 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 77 27 25.96 157 1 0.63 OCM2 4951 genome.wustl.edu 37 7 97617814 97617814 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97617814 97617814 G C SNP OCM2 ENST00000257627 human ensembl 70_37 -1 known silent c.108 p.L36 0.999 prints_Parvalbumin smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin - no_errors OCM2 HGNC ENSG00000135175 62 52 45.61 150 0 0.00 OCRL 4952 genome.wustl.edu 37 X 128695163 128695163 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 128695163 128695163 G A SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.832 p.E278K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 44 8 15.09 60 0 0.00 OCRL 4952 genome.wustl.edu 37 X 128696373 128696373 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 128696373 128696373 C T SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.952 p.R318C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 43 8 15.69 68 0 0.00 OCRL 4952 genome.wustl.edu 37 X 128710357 128710357 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 128710357 128710357 C T SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.1943 p.S648L 0.999 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 19 21 52.50 50 0 0.00 OCRL 4952 genome.wustl.edu 37 X 128722897 128722897 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 128722897 128722897 C G SNP OCRL ENST00000371113 human ensembl 70_37 +1 known silent c.2376 p.L792 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 14 5 26.32 36 0 0.00 OCSTAMP 128506 genome.wustl.edu 37 20 45174665 45174665 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45174665 45174665 C T SNP OCSTAMP ENST00000279028 human ensembl 70_37 -1 known silent c.348 p.E116 0.998 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 10 5 33.33 18 0 0.00 ODAM 54959 genome.wustl.edu 37 4 71063015 71063015 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 71063015 71063015 C G SNP ODAM ENST00000396094 human ensembl 70_37 +1 known missense c.118 p.Q40E 0.451 NULL NULL - no_errors ODAM HGNC ENSG00000109205 26 7 21.21 38 0 0.00 ODAM 54959 genome.wustl.edu 37 4 71063753 71063753 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 71063753 71063753 G T SNP ODAM ENST00000396094 human ensembl 70_37 +1 known missense c.254 p.G85V 0.019 NULL NULL - no_errors ODAM HGNC ENSG00000109205 22 3 12.00 42 0 0.00 ODC1 4953 genome.wustl.edu 37 2 10581818 10581818 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 10581818 10581818 G A SNP ODC1 ENST00000234111 human ensembl 70_37 -1 known missense c.1058 p.S353F 0.982 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 46 11 19.30 65 0 0.00 ODC1 4953 genome.wustl.edu 37 2 10584290 10584290 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 10584290 10584290 C T SNP ODC1 ENST00000234111 human ensembl 70_37 -1 known missense c.380 p.G127E 1.000 pfam_De-COase2_N,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 56 11 16.42 53 0 0.00 ODF1 4956 genome.wustl.edu 37 8 103564151 103564151 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 103564151 103564151 G A SNP ODF1 ENST00000285402 human ensembl 70_37 +1 known missense c.196 p.G66S 0.993 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 71 20 21.98 113 1 0.88 ODF1 4956 genome.wustl.edu 37 8 103572954 103572954 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 103572954 103572954 G A SNP ODF1 ENST00000285402 human ensembl 70_37 +1 known missense c.595 p.E199K 1.000 pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 41 34 45.33 86 0 0.00 ODF2 4957 genome.wustl.edu 37 9 131222883 131222883 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131222883 131222883 G A SNP ODF2 ENST00000351030 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 24 9 27.27 10 0 0.00 ODF2 4957 genome.wustl.edu 37 9 131223280 131223280 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131223280 131223280 G C SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known silent c.183 p.V61 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 74 16 17.58 33 0 0.00 ODF2 4957 genome.wustl.edu 37 9 131223380 131223380 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131223380 131223380 G A SNP ODF2 ENST00000494663 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ODF2 HGNC ENSG00000136811 30 10 25.00 22 0 0.00 ODF2 4957 genome.wustl.edu 37 9 131255085 131255085 + Splice_Site SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131255085 131255085 G A SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known splice_site c.1752+1 e15+1 1.000 - - - no_errors ODF2 HGNC ENSG00000136811 22 12 35.29 49 0 0.00 ODF2 4957 genome.wustl.edu 37 9 131262372 131262372 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131262372 131262372 G T SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known silent c.2328 p.L776 0.943 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 98 24 19.67 152 0 0.00 ODF2L 57489 genome.wustl.edu 37 1 86822207 86822207 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 86822207 86822207 G A SNP ODF2L ENST00000317336 human ensembl 70_37 -1 known missense c.1438 p.H480Y 0.987 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 43 21 32.81 43 0 0.00 ODF3 113746 genome.wustl.edu 37 11 198241 198241 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 198241 198241 C G SNP ODF3 ENST00000325113 human ensembl 70_37 +1 known nonsense c.353 p.S118* 0.849 NULL pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 27 12 30.77 37 0 0.00 ODF3 113746 genome.wustl.edu 37 11 199426 199426 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 199426 199426 C G SNP ODF3 ENST00000325113 human ensembl 70_37 +1 known missense c.592 p.P198A 0.996 pfam_SHIPPO-rpt pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 64 18 21.95 58 0 0.00 ODF3L2 284451 genome.wustl.edu 37 19 474621 474621 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 474621 474621 C A SNP ODF3L2 ENST00000315489 human ensembl 70_37 -1 known missense c.127 p.G43C 0.398 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 20 4 16.67 33 0 0.00 ODF4 146852 genome.wustl.edu 37 17 8248714 8248714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8248714 8248714 G C SNP ODF4 ENST00000328248 human ensembl 70_37 +1 known missense c.508 p.E170Q 0.713 NULL NULL - no_errors ODF4 HGNC ENSG00000184650 53 37 40.22 85 0 0.00 ODF4 146852 genome.wustl.edu 37 17 8249090 8249090 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8249090 8249090 C A SNP ODF4 ENST00000328248 human ensembl 70_37 +1 known missense c.694 p.P232T 0.000 NULL NULL - no_errors ODF4 HGNC ENSG00000184650 30 14 31.82 40 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13753462 13753462 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 13753462 13753462 C G SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known silent c.108 p.L36 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 27 19 41.30 31 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13770894 13770894 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 13770894 13770894 G A SNP OFD1 ENST00000490265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OFD1 HGNC ENSG00000046651 56 21 27.27 79 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13775835 13775835 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 13775835 13775835 G A SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known missense c.1468 p.E490K 0.801 superfamily_Lipoprotein_6 superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 65 10 13.33 48 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13778396 13778396 + Nonsense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd X 13778396 13778396 C G SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known nonsense c.1817 p.S606* 0.147 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 49 21 30.00 85 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13779245 13779245 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 13779245 13779245 G C SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known missense c.2302 p.D768H 0.008 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 113 29 20.42 148 0 0.00 OFD1 8481 genome.wustl.edu 37 X 13779289 13779289 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 13779289 13779289 C T SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known silent c.2346 p.L782 0.002 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 54 36 40.00 95 0 0.00 OGDH 4967 genome.wustl.edu 37 7 44706246 44706246 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 44706246 44706246 G T SNP OGDH ENST00000459672 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors OGDH HGNC ENSG00000105953 18 8 30.77 41 0 0.00 OGDH 4967 genome.wustl.edu 37 7 44715759 44715759 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 44715759 44715759 G C SNP OGDH ENST00000443864 human ensembl 70_37 +1 known missense c.1217 p.R406T 0.000 NULL pfam_DH_E1 - no_errors OGDH HGNC ENSG00000105953 67 18 20.93 101 0 0.00 OGDH 4967 genome.wustl.edu 37 7 44736529 44736529 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44736529 44736529 G C SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.1917 p.L639F 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 23 7 22.58 41 0 0.00 OGDH 4967 genome.wustl.edu 37 7 44736558 44736558 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 44736558 44736558 G A SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.1946 p.R649Q 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 45 32 41.56 81 0 0.00 OGDH 4967 genome.wustl.edu 37 7 44746853 44746853 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 44746853 44746853 G A SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.2662 p.D888N 0.002 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 47 18 27.69 73 0 0.00 OGDHL 55753 genome.wustl.edu 37 10 50944452 50944452 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 50944452 50944452 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.2705 p.R902Q 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 35 5 12.50 29 0 0.00 OGDHL 55753 genome.wustl.edu 37 10 50952795 50952795 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 50952795 50952795 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.1633 p.E545K 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 93 20 17.70 133 0 0.00 OGDHL 55753 genome.wustl.edu 37 10 50953419 50953419 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 50953419 50953419 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.1600 p.E534K 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 33 10 23.26 31 0 0.00 OGDHL 55753 genome.wustl.edu 37 10 50966441 50966441 + Silent SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 50966441 50966441 G T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known silent c.198 p.V66 0.896 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 69 20 22.47 72 0 0.00 OGFOD1 55239 genome.wustl.edu 37 16 56485629 56485629 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 56485629 56485629 G C SNP OGFOD1 ENST00000566157 human ensembl 70_37 +1 known missense c.105 p.L35F 1.000 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 37 31 45.59 69 0 0.00 OGFOD1 55239 genome.wustl.edu 37 16 56500113 56500113 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 56500113 56500113 C T SNP OGFOD1 ENST00000566157 human ensembl 70_37 +1 known silent c.498 p.F166 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 89 10 10.10 107 0 0.00 OGFOD2 79676 genome.wustl.edu 37 12 123459828 123459828 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 123459828 123459828 C T SNP OGFOD2 ENST00000228922 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 35 7 16.67 54 0 0.00 OGFOD3 79701 genome.wustl.edu 37 17 80352367 80352367 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 80352367 80352367 C T SNP OGFOD3 ENST00000329197 human ensembl 70_37 -1 known silent c.876 p.P292 0.007 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 20 9 31.03 21 0 0.00 OGFR 11054 genome.wustl.edu 37 20 61442885 61442885 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 61442885 61442885 G A SNP OGFR ENST00000290291 human ensembl 70_37 +1 known silent c.537 p.G179 0.898 pfam_OGF_rcpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 64 26 28.89 100 0 0.00 OGFR 11054 genome.wustl.edu 37 20 61444515 61444515 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 61444515 61444515 G A SNP OGFR ENST00000290291 human ensembl 70_37 +1 known silent c.1548 p.G516 0.506 NULL pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 16 9 36.00 17 0 0.00 OGFRL1 79627 genome.wustl.edu 37 6 72011165 72011165 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 72011165 72011165 C T SNP OGFRL1 ENST00000370435 human ensembl 70_37 +1 known missense c.769 p.P257S 1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 43 13 23.21 54 0 0.00 OGFRL1 79627 genome.wustl.edu 37 6 72011666 72011666 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 72011666 72011666 G A SNP OGFRL1 ENST00000370435 human ensembl 70_37 +1 known missense c.1270 p.E424K 0.275 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 6 3 33.33 13 0 0.00 OGG1 4968 genome.wustl.edu 37 3 9791867 9791867 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9791867 9791867 G A SNP OGG1 ENST00000436092 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors OGG1 HGNC ENSG00000114026 18 13 41.94 34 0 0.00 OGG1 4968 genome.wustl.edu 37 3 9791867 9791867 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 9791867 9791867 G C SNP OGG1 ENST00000436092 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors OGG1 HGNC ENSG00000114026 22 6 21.43 31 0 0.00 OGG1 4968 genome.wustl.edu 37 3 9800959 9800959 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9800959 9800959 C G SNP OGG1 ENST00000302008 human ensembl 70_37 +1 known missense c.1037 p.S346C 0.004 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 22 11 33.33 33 0 0.00 OGN 4969 genome.wustl.edu 37 9 95148528 95148528 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 95148528 95148528 G T SNP OGN ENST00000262551 human ensembl 70_37 -1 known silent c.681 p.S227 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 103 27 20.77 160 0 0.00 OGN 4969 genome.wustl.edu 37 9 95152240 95152240 + Nonsense_Mutation SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 95152240 95152240 C A SNP OGN ENST00000262551 human ensembl 70_37 -1 known nonsense c.526 p.E176* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 35 4 10.26 46 0 0.00 OGN 4969 genome.wustl.edu 37 9 95155461 95155461 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 95155461 95155461 C T SNP OGN ENST00000262551 human ensembl 70_37 -1 known missense c.334 p.D112N 0.993 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 58 13 18.31 78 0 0.00 OGT 8473 genome.wustl.edu 37 X 70777114 70777114 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 70777114 70777114 G C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.1390 p.D464H 1.000 pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 38 50 56.82 67 0 0.00 OGT 8473 genome.wustl.edu 37 X 70779275 70779275 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 70779275 70779275 G A SNP OGT ENST00000373719 human ensembl 70_37 +1 known silent c.1761 p.E587 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 20 5 20.00 46 0 0.00 OGT 8473 genome.wustl.edu 37 X 70784469 70784469 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70784469 70784469 A C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.2455 p.T819P 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 17 11 39.29 44 0 0.00 OGT 8473 genome.wustl.edu 37 X 70787860 70787860 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70787860 70787860 C T SNP OGT ENST00000373719 human ensembl 70_37 +1 known nonsense c.2860 p.R954* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 110 33 23.08 116 1 0.85 OGT 8473 genome.wustl.edu 37 X 70787861 70787861 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 70787861 70787861 G C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.2861 p.R954P 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 103 26 20.16 121 0 0.00 OIP5 11339 genome.wustl.edu 37 15 41601953 41601953 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 41601953 41601953 C T SNP OIP5 ENST00000220514 human ensembl 70_37 -1 known silent c.689 p.*230 0.270 NULL NULL - no_errors OIP5 HGNC ENSG00000104147 7 7 50.00 13 0 0.00 OIP5-AS1 729082 genome.wustl.edu 37 15 41578239 41578239 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 41578239 41578239 G C SNP OIP5-AS1 ENST00000500949 human ensembl 70_37 +1 known rna NULL NULL 0.562 - - - no_errors OIP5-AS1 HGNC ENSG00000247556 34 4 10.53 27 0 0.00 OIT3 170392 genome.wustl.edu 37 10 74673095 74673095 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74673095 74673095 G C SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.820 p.E274Q 0.998 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 41 37 46.84 89 0 0.00 OIT3 170392 genome.wustl.edu 37 10 74684129 74684129 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74684129 74684129 C A SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.1094 p.S365Y 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 25 16 39.02 32 0 0.00 OIT3 170392 genome.wustl.edu 37 10 74684331 74684331 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 74684331 74684331 G T SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.1296 p.L432F 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 67 15 18.29 75 0 0.00 OLA1 29789 genome.wustl.edu 37 2 174988002 174988002 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 174988002 174988002 C T SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known missense c.634 p.E212K 1.000 pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 29 13 30.95 18 0 0.00 OLA1 29789 genome.wustl.edu 37 2 175094076 175094076 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 175094076 175094076 C T SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known missense c.205 p.E69K 1.000 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 41 31 43.06 73 0 0.00 OLA1 29789 genome.wustl.edu 37 2 175094174 175094174 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 175094174 175094174 G C SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known missense c.107 p.S36C 1.000 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 58 10 14.71 61 0 0.00 OLAH 55301 genome.wustl.edu 37 10 15089330 15089330 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 15089330 15089330 C T SNP OLAH ENST00000378225 human ensembl 70_37 +1 known missense c.43 p.P15S 0.000 NULL pfam_Thioesterase - no_errors OLAH HGNC ENSG00000152463 43 10 18.87 74 0 0.00 OLAH 55301 genome.wustl.edu 37 10 15115213 15115213 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15115213 15115213 G A SNP OLAH ENST00000378217 human ensembl 70_37 +1 known silent c.942 p.S314 0.000 NULL pfam_Thioesterase - no_errors OLAH HGNC ENSG00000152463 19 17 47.22 51 0 0.00 OLFM2 93145 genome.wustl.edu 37 19 9965242 9965242 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 9965242 9965242 C T SNP OLFM2 ENST00000264833 human ensembl 70_37 -1 known missense c.985 p.E329K 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 13 22 62.86 24 0 0.00 OLFM2 93145 genome.wustl.edu 37 19 9965242 9965242 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 9965242 9965242 C T SNP OLFM2 ENST00000264833 human ensembl 70_37 -1 known missense c.985 p.E329K 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 43 26 37.68 74 0 0.00 OLFM2 93145 genome.wustl.edu 37 19 9968420 9968420 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 9968420 9968420 C T SNP OLFM2 ENST00000264833 human ensembl 70_37 -1 known missense c.331 p.D111N 0.995 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 72 20 21.74 97 0 0.00 OLFM3 118427 genome.wustl.edu 37 1 102271722 102271722 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 102271722 102271722 C T SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.669 p.M223I 1.000 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 36 27 42.86 78 0 0.00 OLFM3 118427 genome.wustl.edu 37 1 102290645 102290645 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 102290645 102290645 C G SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 54 20 27.03 62 0 0.00 OLFM3 118427 genome.wustl.edu 37 1 102290715 102290715 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 102290715 102290715 G C SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.519 p.F173L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 51 24 32.00 103 0 0.00 OLFM3 118427 genome.wustl.edu 37 1 102290786 102290786 + Missense_Mutation SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 102290786 102290786 T A SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.448 p.M150L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 30 5 14.29 54 0 0.00 OLFM4 10562 genome.wustl.edu 37 13 53624523 53624523 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 53624523 53624523 G A SNP OLFM4 ENST00000219022 human ensembl 70_37 +1 known missense c.1150 p.D384N 1.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 25 4 13.79 46 0 0.00 OLFML1 283298 genome.wustl.edu 37 11 7531307 7531307 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 7531307 7531307 G A SNP OLFML1 ENST00000329293 human ensembl 70_37 +1 known missense c.1097 p.R366K 0.976 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 22 20 47.62 70 0 0.00 OLFML2A 169611 genome.wustl.edu 37 9 127557323 127557323 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 127557323 127557323 C T SNP OLFML2A ENST00000373580 human ensembl 70_37 +1 known silent c.375 p.L125 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 15 14 48.28 31 0 0.00 OLFML2A 169611 genome.wustl.edu 37 9 127570102 127570102 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 127570102 127570102 C T SNP OLFML2A ENST00000373580 human ensembl 70_37 +1 known missense c.1211 p.P404L 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 15 24 61.54 18 0 0.00 OLFML2A 169611 genome.wustl.edu 37 9 127570102 127570102 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 127570102 127570102 C T SNP OLFML2A ENST00000373580 human ensembl 70_37 +1 known missense c.1211 p.P404L 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 19 11 36.67 40 0 0.00 OLFML3 56944 genome.wustl.edu 37 1 114522252 114522252 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114522252 114522252 G A SNP OLFML3 ENST00000320334 human ensembl 70_37 +1 known silent c.114 p.E38 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 18 23 56.10 32 0 0.00 OLFML3 56944 genome.wustl.edu 37 1 114523274 114523274 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114523274 114523274 C G SNP OLFML3 ENST00000491700 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OLFML3 HGNC ENSG00000116774 10 8 44.44 31 0 0.00 OLIG2 10215 genome.wustl.edu 37 21 34399339 34399339 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 34399339 34399339 G A SNP OLIG2 ENST00000333337 human ensembl 70_37 +1 known missense c.169 p.G57S 0.035 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG2 HGNC ENSG00000205927 26 14 35.00 61 0 0.00 OLIG2 10215 genome.wustl.edu 37 21 34399424 34399424 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 34399424 34399424 C G SNP OLIG2 ENST00000333337 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG2 HGNC ENSG00000205927 35 26 42.62 79 0 0.00 OLIG3 167826 genome.wustl.edu 37 6 137814879 137814879 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 137814879 137814879 C G SNP OLIG3 ENST00000367734 human ensembl 70_37 -1 known missense c.429 p.E143D 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG3 HGNC ENSG00000177468 18 7 28.00 51 0 0.00 OMA1 115209 genome.wustl.edu 37 1 58946831 58946831 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 58946831 58946831 C T SNP OMA1 ENST00000371226 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 58 21 26.58 83 0 0.00 OMG 4974 genome.wustl.edu 37 17 29622065 29622065 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 29622065 29622065 G A SNP OMG ENST00000247271 human ensembl 70_37 -1 known missense c.1285 p.L429F 0.211 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 46 25 35.21 50 0 0.00 OMG 4974 genome.wustl.edu 37 17 29623322 29623322 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 29623322 29623322 G C SNP OMG ENST00000247271 human ensembl 70_37 -1 known missense c.28 p.L10V 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 50 14 21.88 41 0 0.00 OMP 4975 genome.wustl.edu 37 11 76814000 76814000 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 76814000 76814000 C T SNP OMP ENST00000529803 human ensembl 70_37 +1 known missense c.115 p.R39C 1.000 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 15 9 37.50 21 0 0.00 ONECUT2 9480 genome.wustl.edu 37 18 55103898 55103898 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 55103898 55103898 C A SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known nonsense c.950 p.S317* 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 21 16 43.24 45 0 0.00 ONECUT2 9480 genome.wustl.edu 37 18 55143683 55143683 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 55143683 55143683 G C SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known missense c.1243 p.E415Q 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 11 5 31.25 19 0 0.00 ONECUT2 9480 genome.wustl.edu 37 18 55143878 55143878 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 18 55143878 55143878 C T SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known missense c.1438 p.R480C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 35 7 16.67 48 0 0.00 OOEP 441161 genome.wustl.edu 37 6 74078950 74078950 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 74078950 74078950 G A SNP OOEP ENST00000370359 human ensembl 70_37 -1 known missense c.349 p.H117Y 0.000 NULL NULL - no_errors OOEP HGNC ENSG00000203907 27 8 22.86 53 0 0.00 OPA1 4976 genome.wustl.edu 37 3 193332657 193332657 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 193332657 193332657 C T SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known nonsense c.178 p.Q60* 1.000 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 75 31 29.25 91 0 0.00 OPA1 4976 genome.wustl.edu 37 3 193355761 193355761 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 193355761 193355761 G C SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known missense c.1056 p.Q352H 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 152 35 18.72 144 0 0.00 OPA1 4976 genome.wustl.edu 37 3 193380646 193380646 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 193380646 193380646 G A SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known silent c.2556 p.K852 0.999 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 100 14 12.28 57 0 0.00 OPA1-AS1 100873941 genome.wustl.edu 37 3 193336468 193336469 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 193336468 193336469 - T INS OPA1-AS1 ENST00000433105 human ensembl 70_37 -1 known rna NULL NULL 0.012:0.000 - - - no_errors OPA1-AS1 HGNC ENSG00000224855 11 2 15.38 10 0 0.00 OPA1-AS1 100873941 genome.wustl.edu 37 3 193337406 193337406 + RNA SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 193337406 193337406 C G SNP OPA1-AS1 ENST00000433105 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OPA1-AS1 HGNC ENSG00000224855 42 30 41.10 41 0 0.00 OPA3 80207 genome.wustl.edu 37 19 46032593 46032593 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46032593 46032593 G A SNP OPA3 ENST00000323060 human ensembl 70_37 -1 known silent c.264 p.I88 1.000 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 67 41 37.96 72 0 0.00 OPALIN 93377 genome.wustl.edu 37 10 98105853 98105853 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 98105853 98105853 G C SNP OPALIN ENST00000371172 human ensembl 70_37 -1 known missense c.271 p.H91D 0.001 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 36 17 32.08 39 0 0.00 OPCML 4978 genome.wustl.edu 37 11 132307162 132307162 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 132307162 132307162 G A SNP OPCML ENST00000541867 human ensembl 70_37 -1 known silent c.618 p.N206 0.898 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC ENSG00000183715 43 18 29.51 72 0 0.00 OPCML 4978 genome.wustl.edu 37 11 132399032 132399032 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 132399032 132399032 C A SNP OPCML ENST00000541867 human ensembl 70_37 -1 known missense c.449 p.G150V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC ENSG00000183715 8 4 33.33 28 0 0.00 OPCML 4978 genome.wustl.edu 37 11 132812831 132812831 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 132812831 132812831 C T SNP OPCML ENST00000541867 human ensembl 70_37 -1 known missense c.157 p.A53T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC ENSG00000183715 84 24 22.02 105 0 0.00 OPCML 4978 genome.wustl.edu 37 11 133402239 133402239 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 133402239 133402239 C T SNP OPCML ENST00000529038 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors OPCML HGNC ENSG00000183715 27 25 48.08 89 0 0.00 OPHN1 4983 genome.wustl.edu 37 X 67272420 67272420 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d X 67272420 67272420 C T SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known silent c.2337 p.R779 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 93 11 10.58 126 0 0.00 OPHN1 4983 genome.wustl.edu 37 X 67283722 67283722 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 67283722 67283722 G A SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known missense c.2132 p.P711L 0.969 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 24 22 47.83 68 0 0.00 OPHN1 4983 genome.wustl.edu 37 X 67316727 67316727 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67316727 67316727 G A SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known silent c.1671 p.I557 0.989 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 35 8 18.60 46 0 0.00 OPHN1 4983 genome.wustl.edu 37 X 67432048 67432048 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 67432048 67432048 C T SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known missense c.604 p.A202T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 23 7 23.33 45 0 0.00 OPLAH 26873 genome.wustl.edu 37 8 145106962 145106962 + RNA SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 8 145106962 145106962 C T SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OPLAH HGNC ENSG00000178814 10 6 35.29 29 0 0.00 OPLAH 26873 genome.wustl.edu 37 8 145111904 145111904 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 145111904 145111904 C T SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors OPLAH HGNC ENSG00000178814 8 8 50.00 29 0 0.00 OPLAH 26873 genome.wustl.edu 37 8 145114648 145114648 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145114648 145114648 G A SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 0.163 - - - no_errors OPLAH HGNC ENSG00000178814 142 58 29.00 98 0 0.00 OPN1MW 2652 genome.wustl.edu 37 X 153459060 153459060 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 153459060 153459060 G C SNP OPN1MW ENST00000369935 human ensembl 70_37 +1 known missense c.906 p.L302F 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC ENSG00000147380 64 11 14.67 45 0 0.00 OPN1MW 2652 genome.wustl.edu 37 X 153461460 153461460 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153461460 153461460 G A SNP OPN1MW ENST00000369935 human ensembl 70_37 +1 known missense c.1024 p.D342N 1.000 prints_Opsin_red/grn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC ENSG00000147380 48 6 11.11 58 0 0.00 OPN1MW2 728458 genome.wustl.edu 37 X 153492789 153492789 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 153492789 153492789 G T SNP OPN1MW2 ENST00000369929 human ensembl 70_37 +1 known missense c.538 p.A180S 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW2 HGNC ENSG00000166160 9 6 40.00 9 0 0.00 OPN1SW 611 genome.wustl.edu 37 7 128414594 128414594 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128414594 128414594 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known silent c.645 p.L215 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 117 36 23.38 167 0 0.00 OPN1SW 611 genome.wustl.edu 37 7 128414648 128414648 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 128414648 128414648 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known silent c.591 p.S197 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 31 5 13.89 22 0 0.00 OPN1SW 611 genome.wustl.edu 37 7 128415649 128415649 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 128415649 128415649 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known missense c.196 p.R66W 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 27 35 56.45 51 0 0.00 OPN3 23596 genome.wustl.edu 37 1 241753449 241753449 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 241753449 241753449 G A SNP OPN3 ENST00000462265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OPN3 HGNC ENSG00000054277 10 9 47.37 32 0 0.00 OPN5 221391 genome.wustl.edu 37 6 47749898 47749898 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 47749898 47749898 G A SNP OPN5 ENST00000371211 human ensembl 70_37 +1 known silent c.96 p.A32 0.988 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 65 30 31.58 66 0 0.00 OPN5 221391 genome.wustl.edu 37 6 47763151 47763151 + Missense_Mutation SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 47763151 47763151 T C SNP OPN5 ENST00000371211 human ensembl 70_37 +1 known missense c.608 p.I203T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 58 33 36.26 86 0 0.00 OPRD1 4985 genome.wustl.edu 37 1 29185700 29185700 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 29185700 29185700 C G SNP OPRD1 ENST00000234961 human ensembl 70_37 +1 known silent c.462 p.V154 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 56 9 13.85 36 0 0.00 OPRD1 4985 genome.wustl.edu 37 1 29189591 29189591 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 29189591 29189591 G A SNP OPRD1 ENST00000234961 human ensembl 70_37 +1 known silent c.915 p.A305 0.406 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 92 50 35.21 72 0 0.00 OPRL1 4987 genome.wustl.edu 37 20 62729390 62729390 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 62729390 62729390 C T SNP OPRL1 ENST00000336866 human ensembl 70_37 +1 known missense c.469 p.R157C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 101 20 16.53 97 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154360931 154360931 + Silent SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 154360931 154360931 G T SNP OPRM1 ENST00000434900 human ensembl 70_37 +1 known silent c.531 p.G177 0.962 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 20 50 71.43 39 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154412492 154412492 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 154412492 154412492 G T SNP OPRM1 ENST00000434900 human ensembl 70_37 +1 known missense c.1328 p.R443I 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 19 20 51.28 61 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154412697 154412697 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 154412697 154412697 G C SNP OPRM1 ENST00000522382 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OPRM1 HGNC ENSG00000112038 13 5 27.78 10 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154414441 154414441 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 154414441 154414441 G C SNP OPRM1 ENST00000229768 human ensembl 70_37 +1 known missense c.1201 p.E401Q 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 46 23 33.33 76 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154567919 154567919 + Nonstop_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 154567919 154567919 G C SNP OPRM1 ENST00000337049 human ensembl 70_37 +1 known nonstop c.1257 p.*419Y 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt,prints_Galanin_rcpt - no_errors OPRM1 HGNC ENSG00000112038 38 33 46.48 35 0 0.00 OPRM1 4988 genome.wustl.edu 37 6 154567919 154567919 + Nonstop_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 154567919 154567919 G C SNP OPRM1 ENST00000337049 human ensembl 70_37 +1 known nonstop c.1257 p.*419Y 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt,prints_Galanin_rcpt - no_errors OPRM1 HGNC ENSG00000112038 39 31 43.66 54 0 0.00 OPTN 10133 genome.wustl.edu 37 10 13152294 13152294 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 13152294 13152294 C G SNP OPTN ENST00000263036 human ensembl 70_37 +1 known missense c.187 p.Q63E 1.000 pfam_NEMO_N pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 11 12 52.17 23 0 0.00 OPTN 10133 genome.wustl.edu 37 10 13169814 13169814 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 10 13169814 13169814 G T SNP OPTN ENST00000263036 human ensembl 70_37 +1 known missense c.1312 p.A438S 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 17 3 15.00 30 0 0.00 OR10A3 26496 genome.wustl.edu 37 11 7960477 7960477 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 7960477 7960477 G C SNP OR10A3 ENST00000360759 human ensembl 70_37 -1 known missense c.591 p.I197M 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 97 25 20.49 41 0 0.00 OR10A5 144124 genome.wustl.edu 37 11 6867247 6867247 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 6867247 6867247 G C SNP OR10A5 ENST00000379831 human ensembl 70_37 +1 known missense c.346 p.E116Q 0.772 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 13 34 72.34 62 0 0.00 OR10A5 144124 genome.wustl.edu 37 11 6867763 6867763 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 6867763 6867763 C T SNP OR10A5 ENST00000379831 human ensembl 70_37 +1 known missense c.862 p.P288S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 37 12 24.49 54 0 0.00 OR10A6 390093 genome.wustl.edu 37 11 7949483 7949483 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7949483 7949483 C T SNP OR10A6 ENST00000309838 human ensembl 70_37 -1 known missense c.727 p.A243T 0.994 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 37 11 22.92 42 0 0.00 OR10A6 390093 genome.wustl.edu 37 11 7949991 7949991 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 7949991 7949991 G A SNP OR10A6 ENST00000309838 human ensembl 70_37 -1 known silent c.219 p.F73 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 22 10 31.25 30 0 0.00 OR10A7 121364 genome.wustl.edu 37 12 55615615 55615615 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 55615615 55615615 G C SNP OR10A7 ENST00000326258 human ensembl 70_37 +1 known missense c.807 p.E269D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC ENSG00000179919 62 7 10.14 76 0 0.00 OR10AB1P 390091 genome.wustl.edu 37 11 7749644 7749644 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 7749644 7749644 G A SNP OR10AB1P ENST00000317359 human ensembl 70_37 +1 known missense c.13 p.E5K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR10AB1P HGNC ENSG00000176716 52 10 16.13 56 0 0.00 OR10AB1P 390091 genome.wustl.edu 37 11 7750751 7750751 + Missense_Mutation SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 11 7750751 7750751 A G SNP OR10AB1P ENST00000317359 human ensembl 70_37 +1 known missense c.836 p.D279G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR10AB1P HGNC ENSG00000176716 5 29 85.29 23 0 0.00 OR10AG1 282770 genome.wustl.edu 37 11 55735343 55735343 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 55735343 55735343 C T SNP OR10AG1 ENST00000312345 human ensembl 70_37 -1 known silent c.597 p.T199 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 37 5 11.90 44 0 0.00 OR10AG1 282770 genome.wustl.edu 37 11 55735637 55735637 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 55735637 55735637 C T SNP OR10AG1 ENST00000312345 human ensembl 70_37 -1 known silent c.303 p.T101 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 68 14 17.07 83 0 0.00 OR10G2 26534 genome.wustl.edu 37 14 22102067 22102067 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 22102067 22102067 C T SNP OR10G2 ENST00000542433 human ensembl 70_37 -1 known silent c.932 p.*311 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 137 28 16.97 170 0 0.00 OR10G2 26534 genome.wustl.edu 37 14 22102290 22102290 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 22102290 22102290 C T SNP OR10G2 ENST00000542433 human ensembl 70_37 -1 known missense c.709 p.D237N 0.772 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 32 18 36.00 58 0 0.00 OR10G3 26533 genome.wustl.edu 37 14 22037976 22037976 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 22037976 22037976 C G SNP OR10G3 ENST00000303532 human ensembl 70_37 -1 known silent c.900 p.L300 0.996 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10G3 HGNC ENSG00000169208 72 32 30.77 114 0 0.00 OR10G3 26533 genome.wustl.edu 37 14 22038145 22038145 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 22038145 22038145 G C SNP OR10G3 ENST00000303532 human ensembl 70_37 -1 known missense c.731 p.A244G 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10G3 HGNC ENSG00000169208 32 27 44.26 53 0 0.00 OR10G4 390264 genome.wustl.edu 37 11 123886816 123886816 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 123886816 123886816 G A SNP OR10G4 ENST00000320891 human ensembl 70_37 +1 known missense c.535 p.D179N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 63 24 27.59 60 0 0.00 OR10G7 390265 genome.wustl.edu 37 11 123909245 123909245 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 123909245 123909245 G A SNP OR10G7 ENST00000330487 human ensembl 70_37 -1 known missense c.464 p.S155F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 73 35 32.41 113 0 0.00 OR10G7 390265 genome.wustl.edu 37 11 123909484 123909484 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123909484 123909484 C T SNP OR10G7 ENST00000330487 human ensembl 70_37 -1 known silent c.225 p.T75 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 120 24 16.67 178 0 0.00 OR10G8 219869 genome.wustl.edu 37 11 123901075 123901075 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 123901075 123901075 G T SNP OR10G8 ENST00000431524 human ensembl 70_37 +1 known missense c.746 p.C249F 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 117 42 26.42 156 0 0.00 OR10G8 219869 genome.wustl.edu 37 11 123901166 123901166 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 123901166 123901166 G A SNP OR10G8 ENST00000431524 human ensembl 70_37 +1 known silent c.837 p.T279 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 19 154 88.51 245 1 0.41 OR10G9 219870 genome.wustl.edu 37 11 123893793 123893793 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123893793 123893793 T A SNP OR10G9 ENST00000375024 human ensembl 70_37 +1 known missense c.74 p.L25H 0.836 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 113 32 22.07 213 1 0.47 OR10H1 26539 genome.wustl.edu 37 19 15917990 15917990 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15917990 15917990 G C SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known silent c.858 p.L286 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 43 24 35.82 50 0 0.00 OR10H1 26539 genome.wustl.edu 37 19 15918293 15918293 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15918293 15918293 C T SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known silent c.555 p.L185 0.689 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 96 30 23.81 181 0 0.00 OR10H1 26539 genome.wustl.edu 37 19 15918816 15918816 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15918816 15918816 T C SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known missense c.32 p.Q11R 0.019 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 30 33 52.38 106 0 0.00 OR10H2 26538 genome.wustl.edu 37 19 15839495 15839495 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15839495 15839495 C T SNP OR10H2 ENST00000305899 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 67 13 16.25 55 0 0.00 OR10H2 26538 genome.wustl.edu 37 19 15839584 15839584 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 15839584 15839584 C G SNP OR10H2 ENST00000305899 human ensembl 70_37 +1 known missense c.731 p.S244C 0.968 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 106 74 41.11 190 0 0.00 OR10H3 26532 genome.wustl.edu 37 19 15852820 15852820 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15852820 15852820 C T SNP OR10H3 ENST00000305892 human ensembl 70_37 +1 known silent c.618 p.V206 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 229 74 24.42 354 0 0.00 OR10H3 26532 genome.wustl.edu 37 19 15853003 15853003 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15853003 15853003 C A SNP OR10H3 ENST00000305892 human ensembl 70_37 +1 known silent c.801 p.L267 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 177 69 27.94 274 0 0.00 OR10H4 126541 genome.wustl.edu 37 19 16060198 16060198 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 16060198 16060198 C T SNP OR10H4 ENST00000322107 human ensembl 70_37 +1 known silent c.381 p.I127 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 106 30 22.06 117 0 0.00 OR10H5 284433 genome.wustl.edu 37 19 15905096 15905096 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15905096 15905096 C T SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known missense c.238 p.R80C 0.079 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 59 38 39.18 123 0 0.00 OR10H5 284433 genome.wustl.edu 37 19 15905236 15905236 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 15905236 15905236 C T SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known silent c.378 p.I126 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 44 14 24.14 92 0 0.00 OR10H5 284433 genome.wustl.edu 37 19 15905729 15905729 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15905729 15905729 T G SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known missense c.871 p.F291V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 53 19 26.39 73 0 0.00 OR10J1 26476 genome.wustl.edu 37 1 159410019 159410019 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 159410019 159410019 G T SNP OR10J1 ENST00000423932 human ensembl 70_37 +1 known silent c.471 p.L157 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 34 17 33.33 66 0 0.00 OR10J1 26476 genome.wustl.edu 37 1 159410128 159410128 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 159410128 159410128 G T SNP OR10J1 ENST00000423932 human ensembl 70_37 +1 known missense c.580 p.V194L 0.659 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 74 30 28.85 63 0 0.00 OR10J3 441911 genome.wustl.edu 37 1 159283820 159283820 + Silent SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159283820 159283820 T A SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known silent c.630 p.L210 0.044 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 20 16 44.44 35 0 0.00 OR10J3 441911 genome.wustl.edu 37 1 159283925 159283925 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159283925 159283925 G A SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known silent c.525 p.I175 0.133 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 10 10 50.00 25 0 0.00 OR10J3 441911 genome.wustl.edu 37 1 159284332 159284332 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159284332 159284332 G C SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known missense c.118 p.L40V 0.062 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 36 9 19.57 38 0 0.00 OR10J5 127385 genome.wustl.edu 37 1 159505066 159505066 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159505066 159505066 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.732 p.L244 0.807 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 57 21 26.92 72 0 0.00 OR10J5 127385 genome.wustl.edu 37 1 159505654 159505654 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159505654 159505654 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.144 p.I48 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 44 16 26.67 40 0 0.00 OR10J5 127385 genome.wustl.edu 37 1 159505756 159505756 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 159505756 159505756 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.42 p.F14 0.619 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 5 4 44.44 13 0 0.00 OR10K1 391109 genome.wustl.edu 37 1 158436055 158436055 + Missense_Mutation SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 158436055 158436055 A G SNP OR10K1 ENST00000289451 human ensembl 70_37 +1 known missense c.704 p.Y235C 0.909 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 56 38 40.43 41 0 0.00 OR10K2 391107 genome.wustl.edu 37 1 158389842 158389842 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 158389842 158389842 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known missense c.815 p.A272V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 38 12 24.00 40 0 0.00 OR10K2 391107 genome.wustl.edu 37 1 158389870 158389870 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 158389870 158389870 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known nonsense c.787 p.Q263* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 54 204 79.07 52 0 0.00 OR10K2 391107 genome.wustl.edu 37 1 158390018 158390018 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158390018 158390018 C G SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known missense c.639 p.L213F 0.660 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 156 18 10.34 114 0 0.00 OR10K2 391107 genome.wustl.edu 37 1 158390317 158390317 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158390317 158390317 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known silent c.340 p.L114 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 242 54 18.24 218 0 0.00 OR10Q1 219960 genome.wustl.edu 37 11 57995864 57995864 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 57995864 57995864 G A SNP OR10Q1 ENST00000316770 human ensembl 70_37 -1 known nonsense c.484 p.Q162* 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 24 7 22.58 51 0 0.00 OR10R2 343406 genome.wustl.edu 37 1 158449973 158449973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158449973 158449973 C T SNP OR10R2 ENST00000368152 human ensembl 70_37 +1 known silent c.306 p.L102 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 50 10 16.67 110 0 0.00 OR10S1 219873 genome.wustl.edu 37 11 123847819 123847819 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 123847819 123847819 C T SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.580 p.D194N 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 11 10 47.62 31 0 0.00 OR10S1 219873 genome.wustl.edu 37 11 123847899 123847899 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 123847899 123847899 G A SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.500 p.A167V 0.114 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 56 20 26.32 144 0 0.00 OR10S1 219873 genome.wustl.edu 37 11 123848062 123848062 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 123848062 123848062 C T SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.337 p.V113I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 33 5 13.16 36 0 0.00 OR10T2 128360 genome.wustl.edu 37 1 158368642 158368642 + Silent SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 158368642 158368642 G T SNP OR10T2 ENST00000334438 human ensembl 70_37 -1 known silent c.615 p.I205 0.632 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 23 10 30.30 38 0 0.00 OR10W1 81341 genome.wustl.edu 37 11 58034493 58034493 + Missense_Mutation SNP T T G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 58034493 58034493 T G SNP OR10W1 ENST00000395079 human ensembl 70_37 -1 known missense c.838 p.I280L 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 40 11 21.57 63 0 0.00 OR10W1 81341 genome.wustl.edu 37 11 58034737 58034737 + Silent SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 58034737 58034737 A G SNP OR10W1 ENST00000395079 human ensembl 70_37 -1 known silent c.594 p.I198 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 15 6 28.57 29 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158548787 158548787 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 158548787 158548787 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known missense c.903 p.I301M 0.540 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 39 38 49.35 87 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158549183 158549183 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158549183 158549183 G A SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.507 p.F169 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 86 22 20.37 84 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158549459 158549459 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549459 158549459 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.231 p.L77 0.832 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 47 17 26.56 61 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158549459 158549459 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 158549459 158549459 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.231 p.L77 0.832 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 32 8 20.00 49 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158549540 158549540 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549540 158549540 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.150 p.L50 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 30 7 18.92 40 0 0.00 OR10X1 128367 genome.wustl.edu 37 1 158549659 158549659 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549659 158549659 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known missense c.31 p.Q11E 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 21 5 19.23 33 0 0.00 OR10Z1 128368 genome.wustl.edu 37 1 158576330 158576330 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 158576330 158576330 G A SNP OR10Z1 ENST00000361284 human ensembl 70_37 +1 known silent c.102 p.L34 0.308 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 39 25 39.06 61 0 0.00 OR10Z1 128368 genome.wustl.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 158576486 158576487 - G INS OR10Z1 ENST00000361284 human ensembl 70_37 +1 known frame_shift_ins c.258_259 p.D88fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 110 14 11.29 83 0 0.00 OR11A1 26531 genome.wustl.edu 37 6 29395167 29395167 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 29395167 29395167 C T SNP OR11A1 ENST00000377147 human ensembl 70_37 -1 known silent c.252 p.L84 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR11A1 HGNC ENSG00000204694 40 70 63.64 85 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19377637 19377637 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 19377637 19377637 C T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.44 p.S15F 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 91 16 14.95 150 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19377728 19377728 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 19377728 19377728 C T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known silent c.135 p.L45 0.982 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 49 36 42.35 89 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19377748 19377748 + Missense_Mutation SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 19377748 19377748 T G SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.155 p.L52R 0.014 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 50 50 50.00 67 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19377859 19377859 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 19377859 19377859 T C SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.266 p.V89A 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 15 5 25.00 45 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19377962 19377962 + Silent SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 19377962 19377962 T C SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known silent c.369 p.G123 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 48 10 17.24 84 0 0.00 OR11H12 440153 genome.wustl.edu 37 14 19378189 19378189 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 19378189 19378189 G T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.596 p.R199L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 28 8 22.22 19 0 0.00 OR11H6 122748 genome.wustl.edu 37 14 20692813 20692813 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 20692813 20692813 G A SNP OR11H6 ENST00000315519 human ensembl 70_37 +1 known missense c.945 p.M315I 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11H6 HGNC ENSG00000176219 73 24 24.74 129 0 0.00 OR11L1 391189 genome.wustl.edu 37 1 248004471 248004471 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 248004471 248004471 G A SNP OR11L1 ENST00000355784 human ensembl 70_37 -1 known missense c.728 p.S243F 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 36 8 18.18 26 0 0.00 OR12D3 81797 genome.wustl.edu 37 6 29342268 29342268 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 29342268 29342268 G C SNP OR12D3 ENST00000377143 human ensembl 70_37 -1 known missense c.797 p.S266C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 36 8 18.18 56 0 0.00 OR13A1 79290 genome.wustl.edu 37 10 45799286 45799286 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 45799286 45799286 G T SNP OR13A1 ENST00000374401 human ensembl 70_37 -1 known missense c.585 p.F195L 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 9 4 30.77 11 0 0.00 OR13A1 79290 genome.wustl.edu 37 10 45799325 45799325 + Silent SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 45799325 45799325 C A SNP OR13A1 ENST00000374401 human ensembl 70_37 -1 known silent c.546 p.L182 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 5 7 58.33 20 0 0.00 OR13C2 392376 genome.wustl.edu 37 9 107366964 107366964 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 107366964 107366964 G A SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known silent c.945 p.F315 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 61 23 27.38 68 0 0.00 OR13C2 392376 genome.wustl.edu 37 9 107367625 107367625 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 107367625 107367625 G A SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.284 p.S95F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 44 13 22.81 54 0 0.00 OR13C2 392376 genome.wustl.edu 37 9 107367884 107367884 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 107367884 107367884 G C SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.25 p.L9V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 92 20 17.86 113 0 0.00 OR13C2 392376 genome.wustl.edu 37 9 107367884 107367884 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 107367884 107367884 G C SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.25 p.L9V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 23 10 30.30 36 0 0.00 OR13C3 138803 genome.wustl.edu 37 9 107298423 107298423 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 107298423 107298423 G C SNP OR13C3 ENST00000374781 human ensembl 70_37 -1 known silent c.672 p.L224 0.033 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 51 10 16.13 33 0 0.00 OR13C3 138803 genome.wustl.edu 37 9 107298510 107298510 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 107298510 107298510 T C SNP OR13C3 ENST00000374781 human ensembl 70_37 -1 known silent c.585 p.R195 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 12 8 40.00 32 0 0.00 OR13C4 138804 genome.wustl.edu 37 9 107288841 107288841 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 107288841 107288841 G T SNP OR13C4 ENST00000277216 human ensembl 70_37 -1 known missense c.650 p.S217Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 7 44 86.27 66 0 0.00 OR13C4 138804 genome.wustl.edu 37 9 107289124 107289124 + Missense_Mutation SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 107289124 107289124 A G SNP OR13C4 ENST00000277216 human ensembl 70_37 -1 known missense c.367 p.Y123H 0.894 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 36 15 29.41 68 0 0.00 OR13C8 138802 genome.wustl.edu 37 9 107331533 107331533 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 107331533 107331533 G A SNP OR13C8 ENST00000335040 human ensembl 70_37 +1 known missense c.85 p.V29I 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 65 25 27.78 56 0 0.00 OR13C9 286362 genome.wustl.edu 37 9 107379601 107379601 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 107379601 107379601 G C SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.885 p.I295M 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 151 39 20.53 66 0 0.00 OR13C9 286362 genome.wustl.edu 37 9 107379792 107379792 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 107379792 107379792 C G SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.694 p.E232Q 0.248 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 30 32 51.61 57 0 0.00 OR13C9 286362 genome.wustl.edu 37 9 107380216 107380216 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 107380216 107380216 C G SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.270 p.K90N 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 44 28 38.89 97 0 0.00 OR13D1 286365 genome.wustl.edu 37 9 107457367 107457367 + Nonsense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 107457367 107457367 C G SNP OR13D1 ENST00000318763 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.201 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13D1 HGNC ENSG00000179055 42 30 41.67 76 0 0.00 OR13F1 138805 genome.wustl.edu 37 9 107266772 107266772 + Missense_Mutation SNP G G T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 107266772 107266772 G T SNP OR13F1 ENST00000334726 human ensembl 70_37 +1 known missense c.229 p.A77S 0.833 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 84 19 18.45 131 1 0.76 OR13F1 138805 genome.wustl.edu 37 9 107267221 107267221 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 107267221 107267221 G C SNP OR13F1 ENST00000334726 human ensembl 70_37 +1 known silent c.678 p.L226 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 41 9 18.00 86 0 0.00 OR13H1 347468 genome.wustl.edu 37 X 130678497 130678497 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 130678497 130678497 G A SNP OR13H1 ENST00000338616 human ensembl 70_37 +1 known silent c.450 p.G150 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 53 79 58.96 98 0 0.00 OR13J1 392309 genome.wustl.edu 37 9 35870178 35870178 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 35870178 35870178 G A SNP OR13J1 ENST00000377981 human ensembl 70_37 -1 known missense c.221 p.T74M 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 62 31 33.33 116 0 0.00 OR14A2 388761 genome.wustl.edu 37 1 247886434 247886434 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 247886434 247886434 C A SNP OR14A2 ENST00000366485 human ensembl 70_37 -1 known missense c.912 p.Q304H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A2 HGNC ENSG00000241128 30 15 33.33 65 0 0.00 OR14C36 127066 genome.wustl.edu 37 1 248512656 248512656 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 248512656 248512656 G C SNP OR14C36 ENST00000317861 human ensembl 70_37 +1 known missense c.580 p.E194Q 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 31 21 40.38 42 0 0.00 OR1A1 8383 genome.wustl.edu 37 17 3119561 3119561 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 3119561 3119561 C A SNP OR1A1 ENST00000304094 human ensembl 70_37 +1 known missense c.647 p.S216Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 78 30 27.78 118 0 0.00 OR1A2 26189 genome.wustl.edu 37 17 3101385 3101385 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3101385 3101385 C T SNP OR1A2 ENST00000381951 human ensembl 70_37 +1 known silent c.573 p.D191 0.116 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 55 37 40.22 142 0 0.00 OR1B1 347169 genome.wustl.edu 37 9 125391128 125391128 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 125391128 125391128 G A SNP OR1B1 ENST00000304833 human ensembl 70_37 -1 novel silent c.687 p.A229 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 25 11 30.56 28 0 0.00 OR1B1 347169 genome.wustl.edu 37 9 125391770 125391771 + Frame_Shift_Ins INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 125391770 125391771 - A INS OR1B1 ENST00000304833 human ensembl 70_37 -1 novel frame_shift_ins c.45_44 p.L15fs 0.004:0.028 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 30 4 11.76 32 0 0.00 OR1C1 26188 genome.wustl.edu 37 1 247920819 247920819 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 247920819 247920819 A G SNP OR1C1 ENST00000408896 human ensembl 70_37 -1 known missense c.890 p.M297T 0.092 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 20 13 39.39 50 0 0.00 OR1C1 26188 genome.wustl.edu 37 1 247920940 247920940 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 247920940 247920940 C T SNP OR1C1 ENST00000408896 human ensembl 70_37 -1 known missense c.769 p.A257T 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 36 15 29.41 38 0 0.00 OR1D2 4991 genome.wustl.edu 37 17 2995364 2995364 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2995364 2995364 C G SNP OR1D2 ENST00000331459 human ensembl 70_37 -1 known missense c.927 p.K309N 0.005 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 34 33 49.25 104 0 0.00 OR1D2 4991 genome.wustl.edu 37 17 2995386 2995386 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2995386 2995386 C G SNP OR1D2 ENST00000331459 human ensembl 70_37 -1 known missense c.905 p.R302T 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 32 30 48.39 107 0 0.00 OR1D5 8386 genome.wustl.edu 37 17 2966374 2966374 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2966374 2966374 G A SNP OR1D5 ENST00000575751 human ensembl 70_37 -1 known silent c.528 p.Y176 0.117 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC ENSG00000262628 100 44 30.56 193 0 0.00 OR1D5 8386 genome.wustl.edu 37 17 2966880 2966880 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 2966880 2966880 C T SNP OR1D5 ENST00000575751 human ensembl 70_37 -1 known missense c.22 p.E8K 0.955 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC ENSG00000262628 42 23 35.38 76 0 0.00 OR1E1 8387 genome.wustl.edu 37 17 3301095 3301095 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3301095 3301095 C A SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known missense c.610 p.G204W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 32 17 34.00 56 0 0.00 OR1E1 8387 genome.wustl.edu 37 17 3301186 3301186 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 3301186 3301186 C G SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known silent c.519 p.V173 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 12 15 55.56 73 0 0.00 OR1E1 8387 genome.wustl.edu 37 17 3301252 3301252 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 3301252 3301252 C T SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known silent c.453 p.L151 0.020 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 42 23 35.38 70 0 0.00 OR1F1 4992 genome.wustl.edu 37 16 3254273 3254273 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 3254273 3254273 C G SNP OR1F1 ENST00000304646 human ensembl 70_37 +1 known silent c.27 p.V9 0.241 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 66 14 17.50 62 0 0.00 OR1F1 4992 genome.wustl.edu 37 16 3254342 3254342 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3254342 3254342 C G SNP OR1F1 ENST00000304646 human ensembl 70_37 +1 known silent c.96 p.L32 0.038 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 54 16 22.86 42 0 0.00 OR1G1 8390 genome.wustl.edu 37 17 3030623 3030623 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3030623 3030623 A G SNP OR1G1 ENST00000328890 human ensembl 70_37 -1 known missense c.223 p.S75P 0.601 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 12 9 42.86 22 0 0.00 OR1I1 126370 genome.wustl.edu 37 19 15198871 15198871 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15198871 15198871 G C SNP OR1I1 ENST00000209540 human ensembl 70_37 +1 known missense c.995 p.R332T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 18 11 37.93 35 0 0.00 OR1J1 347168 genome.wustl.edu 37 9 125239426 125239427 + Frame_Shift_Ins INS - - AAAT TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 9 125239426 125239427 - AAAT INS OR1J1 ENST00000259357 human ensembl 70_37 -1 known frame_shift_ins c.780_779 p.F260fs 0.007:0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J1 HGNC ENSG00000136834 198 40 16.81 201 0 0.00 OR1J2 26740 genome.wustl.edu 37 9 125273111 125273111 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 125273111 125273111 G C SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.31 p.E11Q 0.038 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 68 14 17.07 92 0 0.00 OR1J2 26740 genome.wustl.edu 37 9 125273356 125273356 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 125273356 125273356 C G SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.276 p.I92M 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 75 17 18.48 72 0 0.00 OR1J2 26740 genome.wustl.edu 37 9 125273828 125273828 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 125273828 125273828 C T SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.748 p.L250F 0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 171 39 18.57 155 0 0.00 OR1J4 26219 genome.wustl.edu 37 9 125281687 125281687 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125281687 125281687 C T SNP OR1J4 ENST00000340750 human ensembl 70_37 +1 known nonsense c.268 p.Q90* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 69 48 41.03 109 0 0.00 OR1L1 26737 genome.wustl.edu 37 9 125424911 125424911 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125424911 125424911 G C SNP OR1L1 ENST00000373686 human ensembl 70_37 +1 known missense c.1067 p.R356T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 13 21 61.76 18 0 0.00 OR1L3 26735 genome.wustl.edu 37 9 125437562 125437562 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 125437562 125437562 G A SNP OR1L3 ENST00000304820 human ensembl 70_37 +1 known missense c.154 p.D52N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 70 36 33.96 96 0 0.00 OR1L4 254973 genome.wustl.edu 37 9 125487177 125487177 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 125487177 125487177 G A SNP OR1L4 ENST00000259466 human ensembl 70_37 +1 known silent c.909 p.K303 0.089 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 23 15 39.47 25 0 0.00 OR1M1 125963 genome.wustl.edu 37 19 9204406 9204406 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 9204406 9204406 G A SNP OR1M1 ENST00000429566 human ensembl 70_37 +1 known silent c.486 p.L162 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 74 15 16.85 133 0 0.00 OR1N1 138883 genome.wustl.edu 37 9 125288641 125288641 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 125288641 125288641 G A SNP OR1N1 ENST00000304880 human ensembl 70_37 -1 known missense c.932 p.S311F 0.053 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 47 26 35.62 102 0 0.00 OR1N2 138882 genome.wustl.edu 37 9 125315488 125315488 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 125315488 125315488 G A SNP OR1N2 ENST00000373688 human ensembl 70_37 +1 known missense c.40 p.G14R 0.944 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N2 HGNC ENSG00000171501 57 10 14.93 52 0 0.00 OR1Q1 158131 genome.wustl.edu 37 9 125377520 125377520 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 125377520 125377520 C T SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known silent c.504 p.F168 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 62 22 26.19 75 0 0.00 OR1Q1 158131 genome.wustl.edu 37 9 125377527 125377527 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125377527 125377527 G C SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known missense c.511 p.D171H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 62 28 30.77 52 0 0.00 OR1Q1 158131 genome.wustl.edu 37 9 125377830 125377830 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 125377830 125377830 C T SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known missense c.814 p.R272C 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 47 14 22.95 92 0 0.00 OR1S1 219959 genome.wustl.edu 37 11 57982586 57982586 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57982586 57982586 G A SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known missense c.370 p.D124N 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 17 25 59.52 78 0 0.00 OR1S1 219959 genome.wustl.edu 37 11 57982597 57982597 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 57982597 57982597 C G SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known silent c.381 p.L127 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 37 29 43.28 76 0 0.00 OR1S1 219959 genome.wustl.edu 37 11 57983057 57983057 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57983057 57983057 G C SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known missense c.841 p.E281Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 7 27 79.41 100 0 0.00 OR1S1 219959 genome.wustl.edu 37 11 57983167 57983167 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 57983167 57983167 C T SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known silent c.951 p.L317 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 48 20 29.41 47 0 0.00 OR1S2 219958 genome.wustl.edu 37 11 57971060 57971060 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 57971060 57971060 G A SNP OR1S2 ENST00000302592 human ensembl 70_37 -1 known silent c.594 p.L198 0.073 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR1S2 HGNC ENSG00000197887 46 34 42.50 78 0 0.00 OR2A12 346525 genome.wustl.edu 37 7 143792716 143792716 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 143792716 143792716 G T SNP OR2A12 ENST00000408949 human ensembl 70_37 +1 known missense c.516 p.K172N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 125 16 11.27 156 0 0.00 OR2A12 346525 genome.wustl.edu 37 7 143792960 143792960 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 143792960 143792960 G A SNP OR2A12 ENST00000408949 human ensembl 70_37 +1 known missense c.760 p.A254T 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 17 55 75.34 59 0 0.00 OR2A2 442361 genome.wustl.edu 37 7 143807474 143807474 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 143807474 143807474 G C SNP OR2A2 ENST00000408979 human ensembl 70_37 +1 known missense c.799 p.E267Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 28 26 48.15 42 0 0.00 OR2A25 392138 genome.wustl.edu 37 7 143772059 143772059 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 143772059 143772059 C T SNP OR2A25 ENST00000408898 human ensembl 70_37 +1 known silent c.747 p.L249 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC ENSG00000221933 47 20 29.85 66 0 0.00 OR2A5 393046 genome.wustl.edu 37 7 143748007 143748007 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 143748007 143748007 C A SNP OR2A5 ENST00000408906 human ensembl 70_37 +1 known silent c.513 p.P171 0.815 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 111 80 41.67 194 1 0.51 OR2AE1 81392 genome.wustl.edu 37 7 99474453 99474453 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99474453 99474453 G C SNP OR2AE1 ENST00000316368 human ensembl 70_37 -1 known silent c.204 p.L68 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 33 16 32.65 56 0 0.00 OR2AE1 81392 genome.wustl.edu 37 7 99474518 99474518 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99474518 99474518 G C SNP OR2AE1 ENST00000316368 human ensembl 70_37 -1 known missense c.139 p.L47V 0.090 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 40 22 35.48 48 0 0.00 OR2AJ1 127608 genome.wustl.edu 37 1 248097469 248097469 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 248097469 248097469 G A SNP OR2AJ1 ENST00000318244 human ensembl 70_37 +1 known silent c.399 p.P133 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AJ1 HGNC ENSG00000177275 39 16 29.09 64 0 0.00 OR2AK2 391191 genome.wustl.edu 37 1 248128661 248128661 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 248128661 248128661 G C SNP OR2AK2 ENST00000366480 human ensembl 70_37 +1 known missense c.28 p.D10H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 16 14 46.67 49 0 0.00 OR2AK2 391191 genome.wustl.edu 37 1 248129394 248129394 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 248129394 248129394 C G SNP OR2AK2 ENST00000366480 human ensembl 70_37 +1 known missense c.761 p.S254C 0.091 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 94 44 31.88 106 0 0.00 OR2AP1 121129 genome.wustl.edu 37 12 55968825 55968825 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 55968825 55968825 G A SNP OR2AP1 ENST00000321688 human ensembl 70_37 +1 known silent c.627 p.L209 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AP1 HGNC ENSG00000179615 55 23 29.49 61 0 0.00 OR2AT4 341152 genome.wustl.edu 37 11 74800316 74800316 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 74800316 74800316 G A SNP OR2AT4 ENST00000305159 human ensembl 70_37 -1 known missense c.443 p.T148I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 57 15 20.83 59 0 0.00 OR2B2 81697 genome.wustl.edu 37 6 27879219 27879219 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 27879219 27879219 C G SNP OR2B2 ENST00000303324 human ensembl 70_37 -1 known missense c.879 p.R293S 0.178 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 39 125 76.22 158 0 0.00 OR2B3 442184 genome.wustl.edu 37 6 29054661 29054661 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29054661 29054661 C G SNP OR2B3 ENST00000377173 human ensembl 70_37 -1 known missense c.365 p.R122T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 18 12 40.00 35 0 0.00 OR2C1 4993 genome.wustl.edu 37 16 3406533 3406533 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 16 3406533 3406533 T C SNP OR2C1 ENST00000304936 human ensembl 70_37 +1 known missense c.593 p.V198A 0.954 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C1 HGNC ENSG00000168158 31 5 13.89 29 0 0.00 OR2D2 120776 genome.wustl.edu 37 11 6912833 6912833 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 6912833 6912833 C T SNP OR2D2 ENST00000299459 human ensembl 70_37 -1 known missense c.899 p.R300K 0.968 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 24 7 22.58 83 0 0.00 OR2D3 120775 genome.wustl.edu 37 11 6942995 6942995 + Missense_Mutation SNP T T G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 6942995 6942995 T G SNP OR2D3 ENST00000317834 human ensembl 70_37 +1 known missense c.763 p.S255A 0.037 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 77 37 32.46 116 0 0.00 OR2G2 81470 genome.wustl.edu 37 1 247752384 247752384 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 247752384 247752384 C T SNP OR2G2 ENST00000320065 human ensembl 70_37 +1 known silent c.723 p.F241 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 79 42 34.71 105 0 0.00 OR2G2 81470 genome.wustl.edu 37 1 247752483 247752483 + Silent SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 247752483 247752483 C A SNP OR2G2 ENST00000320065 human ensembl 70_37 +1 known silent c.822 p.G274 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 125 46 26.90 102 0 0.00 OR2G2 81470 genome.wustl.edu 37 1 247752501 247752501 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 247752501 247752501 C G SNP OR2G2 ENST00000320065 human ensembl 70_37 +1 known missense c.840 p.F280L 0.863 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 157 50 24.15 124 0 0.00 OR2G3 81469 genome.wustl.edu 37 1 247768978 247768978 + Missense_Mutation SNP G G C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 247768978 247768978 G C SNP OR2G3 ENST00000320002 human ensembl 70_37 +1 known missense c.91 p.V31L 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 32 10 23.81 40 0 0.00 OR2G6 391211 genome.wustl.edu 37 1 248685098 248685098 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 248685098 248685098 C G SNP OR2G6 ENST00000343414 human ensembl 70_37 +1 known missense c.151 p.L51V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 163 21 11.35 143 1 0.69 OR2H2 7932 genome.wustl.edu 37 6 29556211 29556211 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 29556211 29556211 C T SNP OR2H2 ENST00000383640 human ensembl 70_37 +1 known silent c.490 p.L164 0.954 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 16 3 15.79 20 0 0.00 OR2J1 442185 genome.wustl.edu 37 6 29069355 29069355 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 29069355 29069355 C T SNP OR2J1 ENST00000377171 human ensembl 70_37 +1 known silent c.636 p.L212 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 50 69 57.98 148 0 0.00 OR2K2 26248 genome.wustl.edu 37 9 114089963 114089963 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114089963 114089963 A T SNP OR2K2 ENST00000374428 human ensembl 70_37 -1 known missense c.838 p.Y280N 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 23 6 20.69 58 0 0.00 OR2K2 26248 genome.wustl.edu 37 9 114090765 114090765 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 114090765 114090765 G A SNP OR2K2 ENST00000374428 human ensembl 70_37 -1 known silent c.36 p.L12 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 10 5 33.33 14 0 0.00 OR2L2 26246 genome.wustl.edu 37 1 248202316 248202316 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 248202316 248202316 C T SNP OR2L2 ENST00000366479 human ensembl 70_37 +1 known silent c.747 p.F249 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 72 22 23.40 80 0 0.00 OR2L3 391192 genome.wustl.edu 37 1 248224124 248224124 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 248224124 248224124 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known silent c.141 p.L47 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 250 41 14.04 229 0 0.00 OR2L3 391192 genome.wustl.edu 37 1 248224230 248224230 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 248224230 248224230 G C SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.247 p.D83H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 112 58 33.92 174 1 0.57 OR2L3 391192 genome.wustl.edu 37 1 248224828 248224828 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 248224828 248224828 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.845 p.P282L 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 59 10 14.49 30 0 0.00 OR2L3 391192 genome.wustl.edu 37 1 248224828 248224828 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 248224828 248224828 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.845 p.P282L 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 77 17 18.09 56 0 0.00 OR2L8 391190 genome.wustl.edu 37 1 248112345 248112345 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 248112345 248112345 G C SNP OR2L8 ENST00000357191 human ensembl 70_37 +1 known silent c.186 p.L62 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 196 39 16.60 154 0 0.00 OR2M2 391194 genome.wustl.edu 37 1 248343443 248343443 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 248343443 248343443 C A SNP OR2M2 ENST00000359682 human ensembl 70_37 +1 known missense c.156 p.D52E 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 110 31 21.99 161 0 0.00 OR2M2 391194 genome.wustl.edu 37 1 248343929 248343929 + Silent SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 248343929 248343929 C A SNP OR2M2 ENST00000359682 human ensembl 70_37 +1 known silent c.642 p.I214 0.108 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 122 26 17.57 203 0 0.00 OR2M3 127062 genome.wustl.edu 37 1 248366381 248366381 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 248366381 248366381 G A SNP OR2M3 ENST00000456743 human ensembl 70_37 +1 known silent c.12 p.E4 0.095 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2M3 HGNC ENSG00000228198 69 19 21.59 84 0 0.00 OR2M3 127062 genome.wustl.edu 37 1 248366705 248366705 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248366705 248366705 C A SNP OR2M3 ENST00000456743 human ensembl 70_37 +1 known nonsense c.336 p.C112* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2M3 HGNC ENSG00000228198 55 32 36.78 121 0 0.00 OR2M4 26245 genome.wustl.edu 37 1 248402760 248402760 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248402760 248402760 T G SNP OR2M4 ENST00000306687 human ensembl 70_37 +1 known missense c.530 p.F177C 0.399 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 34 18 34.62 73 0 0.00 OR2M4 26245 genome.wustl.edu 37 1 248402986 248402986 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248402986 248402986 C T SNP OR2M4 ENST00000306687 human ensembl 70_37 +1 known silent c.756 p.Y252 0.375 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 22 14 38.89 52 0 0.00 OR2M5 127059 genome.wustl.edu 37 1 248308725 248308725 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248308725 248308725 T G SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.276 p.I92M 0.014 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 69 31 31.00 157 0 0.00 OR2M5 127059 genome.wustl.edu 37 1 248308766 248308766 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 248308766 248308766 C T SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.317 p.S106L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 103 40 27.97 195 1 0.51 OR2M5 127059 genome.wustl.edu 37 1 248309150 248309150 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 248309150 248309150 G A SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.701 p.R234H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 115 53 31.55 120 1 0.83 OR2M5 127059 genome.wustl.edu 37 1 248309230 248309230 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 248309230 248309230 C T SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.781 p.R261W 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 49 14 22.22 173 1 0.57 OR2M7 391196 genome.wustl.edu 37 1 248487506 248487506 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 248487506 248487506 C T SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 296 222 42.69 368 0 0.00 OR2M7 391196 genome.wustl.edu 37 1 248487506 248487506 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 248487506 248487506 C T SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 35 25 41.67 23 0 0.00 OR2M7 391196 genome.wustl.edu 37 1 248487754 248487754 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 248487754 248487754 G C SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.117 p.F39L 0.001 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 116 47 28.83 174 1 0.57 OR2S2 56656 genome.wustl.edu 37 9 35957557 35957557 + Missense_Mutation SNP C C A TCGA-C5-A2LY-01A-31D-A18J-09 TCGA-C5-A2LY-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 047f9e4d-86b5-4943-aef5-68199bf29e8c 433b41e8-d79a-4da0-a700-821cd97cc1b9 9 35957557 35957557 C A SNP OR2S2 ENST00000341959 human ensembl 70_37 -1 known missense c.539 p.C180F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2S2 HGNC ENSG00000122718 15 3 16.67 63 0 0.00 OR2T1 26696 genome.wustl.edu 37 1 248569550 248569550 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 248569550 248569550 C T SNP OR2T1 ENST00000366474 human ensembl 70_37 +1 known silent c.255 p.F85 0.090 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 29 8 21.62 38 0 0.00 OR2T10 127069 genome.wustl.edu 37 1 248756599 248756599 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 248756599 248756599 G A SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known silent c.471 p.F157 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC ENSG00000184022 61 15 19.74 64 0 0.00 OR2T10 127069 genome.wustl.edu 37 1 248756633 248756633 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 248756633 248756633 G A SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known missense c.437 p.S146L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC ENSG00000184022 50 34 40.48 113 0 0.00 OR2T10 127069 genome.wustl.edu 37 1 248756811 248756811 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248756811 248756811 C G SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known missense c.259 p.A87P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC ENSG00000184022 8 5 38.46 20 0 0.00 OR2T12 127064 genome.wustl.edu 37 1 248458876 248458876 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 248458876 248458876 T - DEL OR2T12 ENST00000317996 human ensembl 70_37 -1 known frame_shift_del c.5 p.E2fs 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 105 12 10.26 131 1 0.76 OR2T2 401992 genome.wustl.edu 37 1 248616299 248616299 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 248616299 248616299 C G SNP OR2T2 ENST00000342927 human ensembl 70_37 +1 known silent c.201 p.L67 0.787 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 160 33 17.10 167 0 0.00 OR2T2 401992 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 248616883 248616883 T A SNP OR2T2 ENST00000342927 human ensembl 70_37 +1 known missense c.785 p.L262Q 0.339 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 32 4 11.11 41 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813536 248813536 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 248813536 248813536 G C SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.650 p.S217C 0.402 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 25 6 19.35 12 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813636 248813636 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 248813636 248813636 G T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.550 p.L184I 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 32 21 39.62 21 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813733 248813734 + Frame_Shift_Ins INS - - C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248813733 248813734 - C INS OR2T27 ENST00000344889 human ensembl 70_37 -1 known frame_shift_ins c.453_452 p.G152fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 88 13 12.87 139 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813749 248813749 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248813749 248813749 G A SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.437 p.A146V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 92 18 16.36 143 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813752 248813752 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 248813752 248813752 A T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.434 p.V145E 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 58 16 21.62 77 0 0.00 OR2T27 403239 genome.wustl.edu 37 1 248813928 248813928 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 248813928 248813928 C T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known silent c.258 p.V86 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 52 19 26.76 45 0 0.00 OR2T33 391195 genome.wustl.edu 37 1 248437015 248437015 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 248437015 248437015 C G SNP OR2T33 ENST00000318021 human ensembl 70_37 -1 known missense c.102 p.L34F 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 53 38 41.76 84 0 0.00 OR2T34 127068 genome.wustl.edu 37 1 248737384 248737384 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 248737384 248737384 G A SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known silent c.675 p.L225 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 65 36 35.64 87 0 0.00 OR2T34 127068 genome.wustl.edu 37 1 248737420 248737420 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 248737420 248737420 G T SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known silent c.639 p.L213 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 69 17 19.77 57 0 0.00 OR2T34 127068 genome.wustl.edu 37 1 248737595 248737595 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248737595 248737595 A G SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known missense c.464 p.V155A 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 52 10 16.13 90 0 0.00 OR2T35 403244 genome.wustl.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 248801602 248801603 - CA INS OR2T35 ENST00000317450 human ensembl 70_37 -1 known frame_shift_ins c.958_957 p.I319fs 0.000:0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 3 2 40.00 8 0 0.00 OR2T5 401993 genome.wustl.edu 37 1 248651905 248651905 + Missense_Mutation SNP A A T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 248651905 248651905 A T SNP OR2T5 ENST00000366473 human ensembl 70_37 +1 known missense c.16 p.R6W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC ENSG00000203661 63 24 27.59 17 0 0.00 OR2T6 254879 genome.wustl.edu 37 1 248550938 248550938 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 248550938 248550938 G A SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known missense c.29 p.R10K 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T6 HGNC ENSG00000198104 143 22 13.25 141 0 0.00 OR2T6 254879 genome.wustl.edu 37 1 248551096 248551096 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 248551096 248551096 C T SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known missense c.187 p.L63F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T6 HGNC ENSG00000198104 55 25 31.25 101 0 0.00 OR2T6 254879 genome.wustl.edu 37 1 248551419 248551419 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 248551419 248551419 C G SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known silent c.510 p.A170 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T6 HGNC ENSG00000198104 54 41 43.16 83 0 0.00 OR2T8 343172 genome.wustl.edu 37 1 248084323 248084323 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 248084323 248084323 G C SNP OR2T8 ENST00000319968 human ensembl 70_37 +1 known missense c.4 p.E2Q 0.046 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 62 29 31.87 116 0 0.00 OR2T8 343172 genome.wustl.edu 37 1 248084909 248084909 + Missense_Mutation SNP T T G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 248084909 248084909 T G SNP OR2T8 ENST00000319968 human ensembl 70_37 +1 known missense c.590 p.M197R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 59 7 10.61 42 0 0.00 OR2V2 285659 genome.wustl.edu 37 5 180582416 180582416 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 180582416 180582416 G C SNP OR2V2 ENST00000328275 human ensembl 70_37 +1 known missense c.474 p.L158F 0.347 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 191 75 28.20 258 0 0.00 OR2W3 343171 genome.wustl.edu 37 1 248058947 248058947 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 248058947 248058947 G T SNP OR2W3 ENST00000360358 human ensembl 70_37 +1 known missense c.59 p.R20L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 41 10 19.61 45 0 0.00 OR2W5 441932 genome.wustl.edu 37 1 247654732 247654732 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 247654732 247654732 C G SNP OR2W5 ENST00000522351 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OR2W5 HGNC ENSG00000203664 16 4 20.00 26 0 0.00 OR3A1 4994 genome.wustl.edu 37 17 3195210 3195210 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 3195210 3195210 G A SNP OR3A1 ENST00000323404 human ensembl 70_37 -1 known missense c.667 p.H223Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 54 6 10.00 81 0 0.00 OR3A1 4994 genome.wustl.edu 37 17 3195220 3195220 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3195220 3195220 G A SNP OR3A1 ENST00000323404 human ensembl 70_37 -1 known silent c.657 p.I219 0.072 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 57 16 21.92 83 0 0.00 OR3A3 8392 genome.wustl.edu 37 17 3324457 3324457 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3324457 3324457 C G SNP OR3A3 ENST00000291231 human ensembl 70_37 +1 known missense c.596 p.S199C 0.877 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC ENSG00000159961 69 51 42.50 64 0 0.00 OR3A3 8392 genome.wustl.edu 37 17 3324577 3324577 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 3324577 3324577 C G SNP OR3A3 ENST00000291231 human ensembl 70_37 +1 known missense c.716 p.S239C 0.099 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC ENSG00000159961 27 11 28.95 46 0 0.00 OR3A4P 390756 genome.wustl.edu 37 17 3213841 3213841 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 3213841 3213841 C T SNP OR3A4P ENST00000323164 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors OR3A4P HGNC ENSG00000180068 47 26 35.62 87 0 0.00 OR3A4P 390756 genome.wustl.edu 37 17 3214692 3214692 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 3214692 3214692 C G SNP OR3A4P ENST00000323164 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors OR3A4P HGNC ENSG00000180068 36 15 29.41 44 0 0.00 OR4A16 81327 genome.wustl.edu 37 11 55111137 55111137 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 55111137 55111137 C G SNP OR4A16 ENST00000314721 human ensembl 70_37 +1 known missense c.461 p.S154C 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 172 53 23.56 235 0 0.00 OR4A16 81327 genome.wustl.edu 37 11 55111510 55111510 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 55111510 55111510 C T SNP OR4A16 ENST00000314721 human ensembl 70_37 +1 known silent c.834 p.L278 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 21 29 58.00 60 0 0.00 OR4A5 81318 genome.wustl.edu 37 11 51411741 51411741 + Missense_Mutation SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 51411741 51411741 G C SNP OR4A5 ENST00000319760 human ensembl 70_37 -1 known missense c.655 p.L219V 0.067 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 68 41 37.61 45 0 0.00 OR4A5 81318 genome.wustl.edu 37 11 51412303 51412303 + Silent SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 51412303 51412303 G C SNP OR4A5 ENST00000319760 human ensembl 70_37 -1 known silent c.93 p.L31 0.007 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 29 23 44.23 43 0 0.00 OR4B1 119765 genome.wustl.edu 37 11 48238908 48238908 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 48238908 48238908 T C SNP OR4B1 ENST00000309562 human ensembl 70_37 +1 known missense c.547 p.F183L 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 129 28 17.83 119 0 0.00 OR4C11 219429 genome.wustl.edu 37 11 55371330 55371330 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 55371330 55371330 G A SNP OR4C11 ENST00000302231 human ensembl 70_37 -1 known missense c.520 p.H174Y 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 10 4 28.57 8 0 0.00 OR4C12 283093 genome.wustl.edu 37 11 50003374 50003374 + Missense_Mutation SNP A A G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 50003374 50003374 A G SNP OR4C12 ENST00000335238 human ensembl 70_37 -1 known missense c.664 p.S222P 0.163 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C12 HGNC ENSG00000221954 40 9 18.37 23 0 0.00 OR4C12 283093 genome.wustl.edu 37 11 50003766 50003766 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 50003766 50003766 G A SNP OR4C12 ENST00000335238 human ensembl 70_37 -1 known missense c.272 p.S91F 0.635 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C12 HGNC ENSG00000221954 85 14 14.14 200 0 0.00 OR4C15 81309 genome.wustl.edu 37 11 55322127 55322127 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55322127 55322127 C T SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known silent c.345 p.F115 0.031 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 73 35 32.41 165 0 0.00 OR4C15 81309 genome.wustl.edu 37 11 55322251 55322251 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 55322251 55322251 G A SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known missense c.469 p.E157K 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 92 13 12.38 91 0 0.00 OR4C15 81309 genome.wustl.edu 37 11 55322729 55322729 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 55322729 55322729 C T SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known missense c.947 p.S316F 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 28 19 40.43 104 0 0.00 OR4C16 219428 genome.wustl.edu 37 11 55340452 55340452 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 55340452 55340452 G A SNP OR4C16 ENST00000314634 human ensembl 70_37 +1 known silent c.849 p.V283 0.374 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 60 19 24.05 90 0 0.00 OR4C3 256144 genome.wustl.edu 37 11 48346555 48346555 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 48346555 48346555 C G SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.63 p.F21L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 80 40 33.33 123 1 0.81 OR4C3 256144 genome.wustl.edu 37 11 48346648 48346648 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 48346648 48346648 C T SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known silent c.156 p.L52 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 70 12 14.46 141 0 0.00 OR4C3 256144 genome.wustl.edu 37 11 48346655 48346655 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 48346655 48346655 G A SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.163 p.V55I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 52 23 30.67 132 0 0.00 OR4C3 256144 genome.wustl.edu 37 11 48347189 48347189 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 48347189 48347189 C G SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.697 p.L233V 0.960 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 144 42 22.58 164 0 0.00 OR4C3 256144 genome.wustl.edu 37 11 48347369 48347369 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 48347369 48347369 G C SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.877 p.D293H 0.514 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 90 29 24.37 124 0 0.00 OR4C3 256144 genome.wustl.edu 37 11 48347444 48347444 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 48347444 48347444 G A SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.952 p.E318K 0.993 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 65 8 10.96 68 0 0.00 OR4C46 119749 genome.wustl.edu 37 11 51515606 51515606 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 51515606 51515606 G C SNP OR4C46 ENST00000328188 human ensembl 70_37 +1 known missense c.325 p.E109Q 0.239 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 86 33 27.73 149 0 0.00 OR4C5 79346 genome.wustl.edu 37 11 48387097 48387097 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 48387097 48387097 C A SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known silent c.921 p.V307 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 112 13 10.40 127 0 0.00 OR4C5 79346 genome.wustl.edu 37 11 48387825 48387825 + Missense_Mutation SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387825 48387825 T G SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known missense c.193 p.I65L 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 23 14 37.84 30 0 0.00 OR4C5 79346 genome.wustl.edu 37 11 48387833 48387833 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387833 48387833 T C SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known missense c.185 p.D62G 0.972 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 24 14 36.84 27 0 0.00 OR4C5 79346 genome.wustl.edu 37 11 48387850 48387850 + Nonsense_Mutation SNP G G T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 11 48387850 48387850 G T SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known nonsense c.168 p.Y56* 0.968 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 31 9 22.50 26 0 0.00 OR4C6 219432 genome.wustl.edu 37 11 55432790 55432790 + Missense_Mutation SNP A A T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 55432790 55432790 A T SNP OR4C6 ENST00000314259 human ensembl 70_37 +1 known missense c.148 p.S50C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 22 5 18.52 22 0 0.00 OR4C6 219432 genome.wustl.edu 37 11 55432918 55432918 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 55432918 55432918 C T SNP OR4C6 ENST00000314259 human ensembl 70_37 +1 known silent c.276 p.L92 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 102 52 33.77 168 0 0.00 OR4D10 390197 genome.wustl.edu 37 11 59245562 59245562 + Silent SNP C C A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 11 59245562 59245562 C A SNP OR4D10 ENST00000530162 human ensembl 70_37 +1 known silent c.660 p.V220 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 29 5 14.71 81 0 0.00 OR4D10 390197 genome.wustl.edu 37 11 59245699 59245699 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 59245699 59245699 C A SNP OR4D10 ENST00000530162 human ensembl 70_37 +1 known missense c.797 p.P266H 0.715 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 28 4 12.50 51 0 0.00 OR4D11 219986 genome.wustl.edu 37 11 59271208 59271208 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 59271208 59271208 C T SNP OR4D11 ENST00000313253 human ensembl 70_37 +1 known missense c.160 p.R54C 0.060 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 70 47 40.17 80 0 0.00 OR4D2 124538 genome.wustl.edu 37 17 56247563 56247563 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 56247563 56247563 C G SNP OR4D2 ENST00000545221 human ensembl 70_37 +1 known missense c.547 p.Q183E 0.957 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 45 45 50.00 74 0 0.00 OR4D5 219875 genome.wustl.edu 37 11 123810603 123810603 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 123810603 123810603 T C SNP OR4D5 ENST00000307033 human ensembl 70_37 +1 known missense c.280 p.F94L 0.977 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 30 9 23.08 41 0 0.00 OR4D5 219875 genome.wustl.edu 37 11 123811257 123811257 + Missense_Mutation SNP C C G TCGA-HM-A6W2-01A-21D-A33O-09 TCGA-HM-A6W2-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77da5f5d-4036-48c1-8992-651b8c0ed331 cd89b294-bf23-495d-a809-4ba324acc1ec 11 123811257 123811257 C G SNP OR4D5 ENST00000307033 human ensembl 70_37 +1 known missense c.934 p.L312V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 8 6 42.86 9 0 0.00 OR4D5 219875 genome.wustl.edu 37 11 123811269 123811269 + Missense_Mutation SNP C C A TCGA-HM-A6W2-01A-21D-A33O-09 TCGA-HM-A6W2-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77da5f5d-4036-48c1-8992-651b8c0ed331 cd89b294-bf23-495d-a809-4ba324acc1ec 11 123811269 123811269 C A SNP OR4D5 ENST00000307033 human ensembl 70_37 +1 known missense c.946 p.P316T 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 6 5 45.45 8 0 0.00 OR4D6 219983 genome.wustl.edu 37 11 59225108 59225108 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 59225108 59225108 G A SNP OR4D6 ENST00000300127 human ensembl 70_37 +1 known silent c.675 p.L225 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 36 9 20.00 38 0 0.00 OR4D9 390199 genome.wustl.edu 37 11 59282804 59282804 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 59282804 59282804 G A SNP OR4D9 ENST00000329328 human ensembl 70_37 +1 known missense c.419 p.R140Q 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 33 17 34.00 59 0 0.00 OR4E2 26686 genome.wustl.edu 37 14 22133660 22133660 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 22133660 22133660 C G SNP OR4E2 ENST00000408935 human ensembl 70_37 +1 known missense c.364 p.R122G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 72 17 19.10 85 0 0.00 OR4E2 26686 genome.wustl.edu 37 14 22133797 22133797 + Silent SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 14 22133797 22133797 T C SNP OR4E2 ENST00000408935 human ensembl 70_37 +1 known silent c.501 p.P167 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 127 18 12.41 88 0 0.00 OR4E2 26686 genome.wustl.edu 37 14 22134061 22134061 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 22134061 22134061 C G SNP OR4E2 ENST00000408935 human ensembl 70_37 +1 known missense c.765 p.I255M 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 22 12 35.29 30 0 0.00 OR4F13P 390651 genome.wustl.edu 37 15 102389537 102389537 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 102389537 102389537 C G SNP OR4F13P ENST00000560066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OR4F13P HGNC ENSG00000214344 60 151 71.23 135 0 0.00 OR4F15 390649 genome.wustl.edu 37 15 102359288 102359288 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 102359288 102359288 G A SNP OR4F15 ENST00000332238 human ensembl 70_37 +1 known missense c.899 p.R300K 0.157 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 52 20 27.78 48 0 0.00 OR4F4 26682 genome.wustl.edu 37 15 102462417 102462417 + Silent SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 102462417 102462417 C A SNP OR4F4 ENST00000326183 human ensembl 70_37 -1 known silent c.846 p.L282 0.984 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F4 HGNC ENSG00000177693 143 39 21.43 215 0 0.00 OR4F6 390648 genome.wustl.edu 37 15 102346506 102346506 + Missense_Mutation SNP T T G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 102346506 102346506 T G SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.584 p.L195W 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 34 6 15.00 44 0 0.00 OR4F6 390648 genome.wustl.edu 37 15 102346600 102346600 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 102346600 102346600 G C SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.678 p.Q226H 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 41 14 25.45 52 0 0.00 OR4F6 390648 genome.wustl.edu 37 15 102346624 102346624 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 102346624 102346624 C G SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.702 p.F234L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 57 21 26.92 87 0 0.00 OR4K1 79544 genome.wustl.edu 37 14 20403832 20403832 + Missense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 20403832 20403832 C A SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.7 p.H3N 0.796 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 127 22 14.77 147 1 0.68 OR4K1 79544 genome.wustl.edu 37 14 20404322 20404322 + Missense_Mutation SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20404322 20404322 T C SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.497 p.L166P 0.192 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 55 25 31.25 85 0 0.00 OR4K1 79544 genome.wustl.edu 37 14 20404526 20404526 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 20404526 20404526 C G SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.701 p.S234C 0.186 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 262 36 12.08 214 0 0.00 OR4K1 79544 genome.wustl.edu 37 14 20404680 20404680 + Silent SNP C C A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 14 20404680 20404680 C A SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known silent c.855 p.I285 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 99 22 18.18 126 0 0.00 OR4K1 79544 genome.wustl.edu 37 14 20404690 20404690 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 20404690 20404690 C T SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known silent c.865 p.L289 0.944 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 26 18 40.91 49 0 0.00 OR4K13 390433 genome.wustl.edu 37 14 20502384 20502384 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20502384 20502384 G T SNP OR4K13 ENST00000315693 human ensembl 70_37 -1 known missense c.534 p.F178L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 21 15 41.67 56 0 0.00 OR4K14 122740 genome.wustl.edu 37 14 20482425 20482425 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 20482425 20482425 G A SNP OR4K14 ENST00000305045 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.068 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4K14 HGNC ENSG00000169484 26 31 54.39 37 0 0.00 OR4K14 122740 genome.wustl.edu 37 14 20482425 20482425 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 20482425 20482425 G A SNP OR4K14 ENST00000305045 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.068 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4K14 HGNC ENSG00000169484 56 57 50.00 86 0 0.00 OR4K15 81127 genome.wustl.edu 37 14 20444114 20444114 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 14 20444114 20444114 G A SNP OR4K15 ENST00000305051 human ensembl 70_37 +1 known missense c.437 p.R146H 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 46 35 43.21 69 0 0.00 OR4K17 390436 genome.wustl.edu 37 14 20585871 20585871 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 20585871 20585871 G A SNP OR4K17 ENST00000315543 human ensembl 70_37 +1 known missense c.306 p.M102I 0.301 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 249 31 10.95 215 0 0.00 OR4K17 390436 genome.wustl.edu 37 14 20586347 20586347 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 20586347 20586347 C T SNP OR4K17 ENST00000315543 human ensembl 70_37 +1 known missense c.782 p.P261L 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 47 39 45.35 74 0 0.00 OR4L1 122742 genome.wustl.edu 37 14 20528220 20528220 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 20528220 20528220 G C SNP OR4L1 ENST00000315683 human ensembl 70_37 +1 known missense c.17 p.G6A 0.017 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4L1 HGNC ENSG00000176246 15 12 44.44 78 0 0.00 OR4L1 122742 genome.wustl.edu 37 14 20528262 20528262 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 20528262 20528262 G C SNP OR4L1 ENST00000315683 human ensembl 70_37 +1 known missense c.59 p.R20P 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4L1 HGNC ENSG00000176246 134 39 22.54 77 0 0.00 OR4M1 441670 genome.wustl.edu 37 14 20248702 20248702 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 20248702 20248702 C T SNP OR4M1 ENST00000315957 human ensembl 70_37 +1 known missense c.221 p.S74F 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 140 16 10.26 137 0 0.00 OR4M1 441670 genome.wustl.edu 37 14 20249054 20249054 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 20249054 20249054 C A SNP OR4M1 ENST00000315957 human ensembl 70_37 +1 known missense c.573 p.N191K 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 147 37 20.11 397 0 0.00 OR4M2 390538 genome.wustl.edu 37 15 22368878 22368878 + Silent SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 22368878 22368878 C G SNP OR4M2 ENST00000332663 human ensembl 70_37 +1 known silent c.303 p.L101 0.541 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 137 21 13.29 134 0 0.00 OR4N2 390429 genome.wustl.edu 37 14 20295947 20295947 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 20295947 20295947 C A SNP OR4N2 ENST00000315947 human ensembl 70_37 +1 known missense c.340 p.L114I 0.290 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 234 57 19.59 313 0 0.00 OR4N4 283694 genome.wustl.edu 37 15 22382811 22382811 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22382811 22382811 A G SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known silent c.339 p.L113 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 33 21 38.89 110 1 0.89 OR4N4 283694 genome.wustl.edu 37 15 22383199 22383199 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 22383199 22383199 C T SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known missense c.727 p.R243C 0.206 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 47 7 12.96 113 1 0.88 OR4N4 283694 genome.wustl.edu 37 15 22383378 22383378 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 22383378 22383378 G C SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known missense c.906 p.L302F 0.134 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 81 13 13.83 107 0 0.00 OR4N5 390437 genome.wustl.edu 37 14 20612227 20612227 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 20612227 20612227 G C SNP OR4N5 ENST00000333629 human ensembl 70_37 +1 known missense c.333 p.E111D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N5 HGNC ENSG00000184394 68 9 11.69 65 0 0.00 OR4S1 256148 genome.wustl.edu 37 11 48327879 48327879 + Silent SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 48327879 48327879 C G SNP OR4S1 ENST00000319988 human ensembl 70_37 +1 known silent c.105 p.L35 0.102 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 87 12 12.12 65 0 0.00 OR4S1 256148 genome.wustl.edu 37 11 48327898 48327898 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 48327898 48327898 C T SNP OR4S1 ENST00000319988 human ensembl 70_37 +1 known silent c.124 p.L42 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 30 16 34.78 55 0 0.00 OR4X1 390113 genome.wustl.edu 37 11 48285589 48285589 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 48285589 48285589 C T SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known silent c.177 p.F59 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 32 16 33.33 97 0 0.00 OR4X1 390113 genome.wustl.edu 37 11 48285667 48285667 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 48285667 48285667 C G SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known missense c.255 p.I85M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 42 12 22.22 62 0 0.00 OR4X1 390113 genome.wustl.edu 37 11 48286033 48286033 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 48286033 48286033 C T SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known silent c.621 p.V207 0.935 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 35 13 27.08 71 0 0.00 OR4X2 119764 genome.wustl.edu 37 11 48267500 48267500 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 48267500 48267500 G T SNP OR4X2 ENST00000302329 human ensembl 70_37 +1 known missense c.845 p.R282I 0.998 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 10 9 47.37 37 0 0.00 OR51A4 401666 genome.wustl.edu 37 11 4967395 4967395 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 11 4967395 4967395 C A SNP OR51A4 ENST00000380373 human ensembl 70_37 -1 known missense c.936 p.K312N 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 107 33 23.57 80 0 0.00 OR51A7 119687 genome.wustl.edu 37 11 4929287 4929287 + Silent SNP T T C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 4929287 4929287 T C SNP OR51A7 ENST00000359350 human ensembl 70_37 +1 known silent c.688 p.L230 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 38 16 29.63 55 0 0.00 OR51B4 79339 genome.wustl.edu 37 11 5322698 5322698 + Missense_Mutation SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 5322698 5322698 A G SNP OR51B4 ENST00000380224 human ensembl 70_37 -1 known missense c.479 p.L160P 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 25 11 30.56 41 0 0.00 OR51B5 282763 genome.wustl.edu 37 11 5364101 5364101 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5364101 5364101 C G SNP OR51B5 ENST00000300773 human ensembl 70_37 -1 known missense c.654 p.L218F 0.011 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 4 2 33.33 22 0 0.00 OR51C1P 401661 genome.wustl.edu 37 11 4712242 4712242 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 4712242 4712242 C A SNP OR51C1P ENST00000357764 human ensembl 70_37 -1 known missense c.685 p.A229S 0.529 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51C1P HGNC ENSG00000197674 28 4 12.50 47 0 0.00 OR51D1 390038 genome.wustl.edu 37 11 4661050 4661050 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 4661050 4661050 C T SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known silent c.30 p.I10 0.007 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 42 38 47.50 94 0 0.00 OR51D1 390038 genome.wustl.edu 37 11 4661593 4661593 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 4661593 4661593 C A SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.573 p.F191L 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 77 29 27.36 132 0 0.00 OR51D1 390038 genome.wustl.edu 37 11 4661675 4661675 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 4661675 4661675 G T SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.655 p.V219F 0.880 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 23 3 11.54 40 0 0.00 OR51D1 390038 genome.wustl.edu 37 11 4661948 4661948 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 4661948 4661948 G C SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 113 43 27.56 154 0 0.00 OR51E1 143503 genome.wustl.edu 37 11 4674564 4674564 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 4674564 4674564 C T SNP OR51E1 ENST00000396952 human ensembl 70_37 +1 known missense c.808 p.R270C 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51E1 HGNC ENSG00000180785 52 19 26.76 121 0 0.00 OR51F1 256892 genome.wustl.edu 37 11 4790839 4790839 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 4790839 4790839 C A SNP OR51F1 ENST00000380383 human ensembl 70_37 -1 known missense c.330 p.M110I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 31 9 22.50 17 0 0.00 OR51F2 119694 genome.wustl.edu 37 11 4843349 4843349 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 4843349 4843349 C T SNP OR51F2 ENST00000322110 human ensembl 70_37 +1 known missense c.734 p.S245L 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 30 10 25.00 52 0 0.00 OR51I1 390063 genome.wustl.edu 37 11 5462187 5462187 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 5462187 5462187 G A SNP OR51I1 ENST00000380211 human ensembl 70_37 -1 known silent c.558 p.L186 0.974 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 19 10 34.48 43 0 0.00 OR51I1 390063 genome.wustl.edu 37 11 5462433 5462433 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5462433 5462433 G T SNP OR51I1 ENST00000380211 human ensembl 70_37 -1 known missense c.312 p.F104L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 10 3 23.08 16 0 0.00 OR51J1 79470 genome.wustl.edu 37 11 5424118 5424118 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 5424118 5424118 G A SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.292 p.E98K 0.007 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC ENSG00000184321 21 4 16.00 23 0 0.00 OR51J1 79470 genome.wustl.edu 37 11 5424626 5424626 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 5424626 5424626 G T SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.800 p.G267V 0.890 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC ENSG00000184321 88 16 15.38 57 0 0.00 OR51J1 79470 genome.wustl.edu 37 11 5424757 5424757 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 5424757 5424757 G C SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.931 p.E311Q 0.023 NULL pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC ENSG00000184321 24 11 31.43 61 0 0.00 OR51M1 390059 genome.wustl.edu 37 11 5411111 5411111 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5411111 5411111 C G SNP OR51M1 ENST00000328611 human ensembl 70_37 +1 known missense c.483 p.I161M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 42 16 27.59 39 0 0.00 OR51M1 390059 genome.wustl.edu 37 11 5411548 5411548 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5411548 5411548 A C SNP OR51M1 ENST00000328611 human ensembl 70_37 +1 known missense c.920 p.K307T 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 24 13 35.14 50 0 0.00 OR51S1 119692 genome.wustl.edu 37 11 4869575 4869575 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4869575 4869575 G T SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.864 p.F288L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 51 7 12.07 83 0 0.00 OR51S1 119692 genome.wustl.edu 37 11 4869592 4869592 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4869592 4869592 G T SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.847 p.L283I 0.890 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 50 7 12.28 74 0 0.00 OR51S1 119692 genome.wustl.edu 37 11 4870037 4870037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 4870037 4870037 G C SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.402 p.I134M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 21 19 47.50 48 0 0.00 OR51V1 283111 genome.wustl.edu 37 11 5220979 5220979 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 5220979 5220979 G A SNP OR51V1 ENST00000321255 human ensembl 70_37 -1 known silent c.952 p.L318 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 68 10 12.82 67 0 0.00 OR51V1 283111 genome.wustl.edu 37 11 5221010 5221010 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5221010 5221010 C T SNP OR51V1 ENST00000321255 human ensembl 70_37 -1 known silent c.921 p.Q307 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 60 16 21.05 107 0 0.00 OR51V1 283111 genome.wustl.edu 37 11 5221348 5221348 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 5221348 5221348 G A SNP OR51V1 ENST00000321255 human ensembl 70_37 -1 known missense c.583 p.R195C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 15 8 34.78 11 0 0.00 OR52A1 23538 genome.wustl.edu 37 11 5172670 5172670 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 5172670 5172670 G C SNP OR52A1 ENST00000328942 human ensembl 70_37 -1 known missense c.930 p.F310L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 4 7 63.64 30 0 0.00 OR52A1 23538 genome.wustl.edu 37 11 5173437 5173437 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 5173437 5173437 G A SNP OR52A1 ENST00000328942 human ensembl 70_37 -1 known missense c.163 p.R55C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 23 15 39.47 38 0 0.00 OR52A4 390053 genome.wustl.edu 37 11 5142642 5142642 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5142642 5142642 T G SNP OR52A4 ENST00000481634 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors OR52A4 HGNC ENSG00000205494 7 5 41.67 37 0 0.00 OR52A5 390054 genome.wustl.edu 37 11 5153017 5153017 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5153017 5153017 C T SNP OR52A5 ENST00000307388 human ensembl 70_37 -1 known missense c.856 p.V286I 0.077 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 17 11 39.29 50 0 0.00 OR52A5 390054 genome.wustl.edu 37 11 5153659 5153659 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5153659 5153659 C A SNP OR52A5 ENST00000307388 human ensembl 70_37 -1 known missense c.214 p.D72Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 12 6 33.33 27 0 0.00 OR52B2 255725 genome.wustl.edu 37 11 6191249 6191249 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 6191249 6191249 C A SNP OR52B2 ENST00000530810 human ensembl 70_37 -1 known missense c.308 p.G103V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B2 HGNC ENSG00000255307 52 7 11.86 63 0 0.00 OR52D1 390066 genome.wustl.edu 37 11 5510628 5510628 + Missense_Mutation SNP T T A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5510628 5510628 T A SNP OR52D1 ENST00000322641 human ensembl 70_37 +1 known missense c.692 p.L231H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 215 71 24.83 264 0 0.00 OR52E2 119678 genome.wustl.edu 37 11 5079977 5079977 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5079977 5079977 C G SNP OR52E2 ENST00000321522 human ensembl 70_37 -1 known missense c.881 p.G294A 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E2 HGNC ENSG00000176787 27 10 27.03 42 0 0.00 OR52E2 119678 genome.wustl.edu 37 11 5080666 5080666 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 5080666 5080666 G A SNP OR52E2 ENST00000321522 human ensembl 70_37 -1 known silent c.192 p.F64 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E2 HGNC ENSG00000176787 16 46 74.19 69 0 0.00 OR52E4 390081 genome.wustl.edu 37 11 5905772 5905772 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5905772 5905772 C A SNP OR52E4 ENST00000316987 human ensembl 70_37 +1 known missense c.250 p.L84I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E4 HGNC ENSG00000180974 48 14 22.58 116 0 0.00 OR52H1 390067 genome.wustl.edu 37 11 5566215 5566215 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 5566215 5566215 C T SNP OR52H1 ENST00000322653 human ensembl 70_37 -1 known missense c.539 p.R180H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 11 3 21.43 22 0 0.00 OR52H1 390067 genome.wustl.edu 37 11 5566286 5566286 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 5566286 5566286 G A SNP OR52H1 ENST00000322653 human ensembl 70_37 -1 known silent c.468 p.I156 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 19 4 17.39 18 0 0.00 OR52I1 390037 genome.wustl.edu 37 11 4615380 4615380 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4615380 4615380 A C SNP OR52I1 ENST00000530443 human ensembl 70_37 +1 putative missense c.112 p.M38L 0.976 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC ENSG00000232268 35 11 23.91 63 0 0.00 OR52J3 119679 genome.wustl.edu 37 11 5068144 5068144 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 5068144 5068144 C A SNP OR52J3 ENST00000380370 human ensembl 70_37 +1 known missense c.389 p.A130D 0.050 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 88 43 32.82 138 0 0.00 OR52L1 338751 genome.wustl.edu 37 11 6007193 6007193 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 6007193 6007193 C G SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known missense c.968 p.R323T 0.398 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 53 14 20.90 75 0 0.00 OR52L1 338751 genome.wustl.edu 37 11 6007367 6007367 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6007367 6007367 A G SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known missense c.794 p.V265A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 20 7 25.00 48 0 0.00 OR52L1 338751 genome.wustl.edu 37 11 6007924 6007924 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6007924 6007924 G C SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known silent c.237 p.L79 0.551 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 79 24 23.30 101 0 0.00 OR52N1 79473 genome.wustl.edu 37 11 5809374 5809374 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 5809374 5809374 G A SNP OR52N1 ENST00000317078 human ensembl 70_37 -1 known nonsense c.673 p.Q225* 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 18 9 33.33 29 0 0.00 OR52N1 79473 genome.wustl.edu 37 11 5809764 5809764 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5809764 5809764 C T SNP OR52N1 ENST00000317078 human ensembl 70_37 -1 known missense c.283 p.D95N 0.064 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 142 33 18.86 180 0 0.00 OR52N4 390072 genome.wustl.edu 37 11 5775987 5775987 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5775987 5775987 A C SNP OR52N4 ENST00000317254 human ensembl 70_37 +1 known missense c.17 p.K6T 0.481 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 20 11 35.48 53 0 0.00 OR52N4 390072 genome.wustl.edu 37 11 5776878 5776878 + Missense_Mutation SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 5776878 5776878 G T SNP OR52N4 ENST00000317254 human ensembl 70_37 +1 known missense c.908 p.R303L 0.457 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 75 27 26.47 42 0 0.00 OR52N5 390075 genome.wustl.edu 37 11 5799592 5799592 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5799592 5799592 G A SNP OR52N5 ENST00000317093 human ensembl 70_37 -1 known silent c.273 p.L91 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 11 8 42.11 28 0 0.00 OR52N5 390075 genome.wustl.edu 37 11 5799825 5799825 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5799825 5799825 G A SNP OR52N5 ENST00000317093 human ensembl 70_37 -1 known missense c.40 p.H14Y 0.215 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 24 19 44.19 35 0 0.00 OR52R1 119695 genome.wustl.edu 37 11 4824913 4824913 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 4824913 4824913 G A SNP OR52R1 ENST00000380382 human ensembl 70_37 -1 known missense c.935 p.S312L 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 10 5 33.33 20 0 0.00 OR52R1 119695 genome.wustl.edu 37 11 4825165 4825165 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 4825165 4825165 G T SNP OR52R1 ENST00000380382 human ensembl 70_37 -1 known missense c.683 p.T228N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 15 3 16.67 33 0 0.00 OR52W1 120787 genome.wustl.edu 37 11 6221355 6221355 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 6221355 6221355 G A SNP OR52W1 ENST00000311352 human ensembl 70_37 +1 known missense c.902 p.R301H 0.749 prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 15 12 44.44 23 0 0.00 OR56A1 120796 genome.wustl.edu 37 11 6048725 6048725 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6048725 6048725 G C SNP OR56A1 ENST00000316650 human ensembl 70_37 -1 known silent c.210 p.L70 0.994 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 48 31 39.24 61 0 0.00 OR56A1 120796 genome.wustl.edu 37 11 6048812 6048812 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 6048812 6048812 G A SNP OR56A1 ENST00000316650 human ensembl 70_37 -1 known silent c.123 p.L41 0.516 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 50 25 33.33 47 0 0.00 OR56A4 120793 genome.wustl.edu 37 11 6024172 6024172 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6024172 6024172 G A SNP OR56A4 ENST00000330728 human ensembl 70_37 -1 known silent c.207 p.L69 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 32 14 30.43 50 0 0.00 OR56A4 120793 genome.wustl.edu 37 11 6024247 6024247 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 6024247 6024247 G A SNP OR56A4 ENST00000330728 human ensembl 70_37 -1 known silent c.132 p.V44 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 17 7 28.00 29 0 0.00 OR56B1 387748 genome.wustl.edu 37 11 5758467 5758467 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5758467 5758467 G C SNP OR56B1 ENST00000317121 human ensembl 70_37 +1 known missense c.721 p.E241Q 0.438 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56B1 HGNC ENSG00000181023 22 16 42.11 34 0 0.00 OR56B4 196335 genome.wustl.edu 37 11 6129417 6129417 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6129417 6129417 C T SNP OR56B4 ENST00000316529 human ensembl 70_37 +1 known nonsense c.409 p.Q137* 0.070 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 19 4 17.39 31 0 0.00 OR56B4 196335 genome.wustl.edu 37 11 6129931 6129931 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 6129931 6129931 A G SNP OR56B4 ENST00000316529 human ensembl 70_37 +1 known missense c.923 p.Q308R 0.014 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 56 19 25.33 100 0 0.00 OR5A2 219981 genome.wustl.edu 37 11 59189567 59189567 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 59189567 59189567 T A SNP OR5A2 ENST00000302040 human ensembl 70_37 -1 known missense c.860 p.N287I 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 63 13 17.11 51 0 0.00 OR5AC2 81050 genome.wustl.edu 37 3 97806600 97806600 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 97806600 97806600 C G SNP OR5AC2 ENST00000358642 human ensembl 70_37 +1 known missense c.584 p.S195C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 23 9 28.12 21 0 0.00 OR5AN1 390195 genome.wustl.edu 37 11 59132047 59132047 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 59132047 59132047 C A SNP OR5AN1 ENST00000313940 human ensembl 70_37 +1 known missense c.116 p.S39Y 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 26 9 25.71 74 0 0.00 OR5AN1 390195 genome.wustl.edu 37 11 59132687 59132687 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 59132687 59132687 C A SNP OR5AN1 ENST00000313940 human ensembl 70_37 +1 known missense c.756 p.F252L 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 36 18 33.33 97 0 0.00 OR5AP2 338675 genome.wustl.edu 37 11 56409223 56409223 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56409223 56409223 G T SNP OR5AP2 ENST00000544374 human ensembl 70_37 -1 known silent c.696 p.V232 0.700 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 37 11 22.92 60 0 0.00 OR5AR1 219493 genome.wustl.edu 37 11 56431445 56431445 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 56431445 56431445 C G SNP OR5AR1 ENST00000302969 human ensembl 70_37 +1 known missense c.284 p.S95C 0.089 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 29 8 21.62 55 0 0.00 OR5AR1 219493 genome.wustl.edu 37 11 56432011 56432011 + Missense_Mutation SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 56432011 56432011 A G SNP OR5AR1 ENST00000302969 human ensembl 70_37 +1 known missense c.850 p.M284V 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 12 25 67.57 68 0 0.00 OR5B21 219968 genome.wustl.edu 37 11 58275441 58275441 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 58275441 58275441 G A SNP OR5B21 ENST00000360374 human ensembl 70_37 -1 known silent c.138 p.I46 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 30 17 36.17 40 0 0.00 OR5B21 219968 genome.wustl.edu 37 11 58275515 58275515 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 58275515 58275515 G A SNP OR5B21 ENST00000360374 human ensembl 70_37 -1 known nonsense c.64 p.Q22* 0.131 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 35 14 28.57 59 0 0.00 OR5B3 441608 genome.wustl.edu 37 11 58170013 58170013 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 58170013 58170013 C G SNP OR5B3 ENST00000309403 human ensembl 70_37 -1 known silent c.870 p.L290 0.985 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 17 14 45.16 65 0 0.00 OR5D13 390142 genome.wustl.edu 37 11 55540930 55540930 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 55540930 55540930 G A SNP OR5D13 ENST00000361760 human ensembl 70_37 +1 known missense c.17 p.R6K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 13 7 35.00 39 0 0.00 OR5D14 219436 genome.wustl.edu 37 11 55563425 55563425 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 55563425 55563425 C G SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.394 p.L132V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 47 14 22.58 48 0 0.00 OR5D14 219436 genome.wustl.edu 37 11 55563486 55563486 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55563486 55563486 T C SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.455 p.L152P 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 77 39 33.05 128 1 0.78 OR5D14 219436 genome.wustl.edu 37 11 55563530 55563530 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 55563530 55563530 C T SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.499 p.R167W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 40 8 16.67 153 0 0.00 OR5D16 390144 genome.wustl.edu 37 11 55606424 55606424 + Missense_Mutation SNP A A C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55606424 55606424 A C SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.197 p.N66T 0.992 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC ENSG00000205029 60 28 31.82 107 0 0.00 OR5D16 390144 genome.wustl.edu 37 11 55606854 55606854 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 55606854 55606854 G C SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.627 p.E209D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC ENSG00000205029 124 16 11.43 162 0 0.00 OR5D16 390144 genome.wustl.edu 37 11 55607128 55607128 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55607128 55607128 G A SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.901 p.D301N 0.001 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC ENSG00000205029 17 8 32.00 50 0 0.00 OR5D18 219438 genome.wustl.edu 37 11 55587477 55587477 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 55587477 55587477 C T SNP OR5D18 ENST00000333976 human ensembl 70_37 +1 known silent c.372 p.F124 0.616 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 24 30 55.56 59 0 0.00 OR5F1 338674 genome.wustl.edu 37 11 55761413 55761413 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55761413 55761413 G A SNP OR5F1 ENST00000278409 human ensembl 70_37 -1 known missense c.689 p.S230L 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 10 6 37.50 17 0 0.00 OR5F1 338674 genome.wustl.edu 37 11 55762043 55762043 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55762043 55762043 G A SNP OR5F1 ENST00000278409 human ensembl 70_37 -1 known missense c.59 p.T20M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 9 5 35.71 17 0 0.00 OR5G5P 81191 genome.wustl.edu 37 11 56569578 56569578 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 56569578 56569578 C T SNP OR5G5P ENST00000378368 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR5G5P HGNC ENSG00000205025 13 5 27.78 25 0 0.00 OR5G5P 81191 genome.wustl.edu 37 11 56570111 56570111 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 56570111 56570111 G A SNP OR5G5P ENST00000378368 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR5G5P HGNC ENSG00000205025 10 7 41.18 41 0 0.00 OR5H1 26341 genome.wustl.edu 37 3 97851984 97851984 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 97851984 97851984 C T SNP OR5H1 ENST00000354565 human ensembl 70_37 +1 known missense c.443 p.S148L 0.092 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 146 26 15.12 42 0 0.00 OR5H15 403274 genome.wustl.edu 37 3 97887764 97887764 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 97887764 97887764 C T SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known missense c.221 p.S74L 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 120 24 16.67 68 0 0.00 OR5H15 403274 genome.wustl.edu 37 3 97888151 97888151 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 97888151 97888151 C G SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known nonsense c.608 p.S203* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 46 20 30.30 74 0 0.00 OR5H15 403274 genome.wustl.edu 37 3 97888338 97888338 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 97888338 97888338 G A SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known silent c.795 p.P265 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 152 20 11.63 93 0 0.00 OR5H2 79310 genome.wustl.edu 37 3 98002360 98002360 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 98002360 98002360 C G SNP OR5H2 ENST00000355273 human ensembl 70_37 +1 known nonsense c.629 p.S210* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 15 16 51.61 30 0 0.00 OR5H6 79295 genome.wustl.edu 37 3 97983234 97983234 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 97983234 97983234 C T SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known nonsense c.106 p.Q36* 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 366 118 24.28 402 0 0.00 OR5H6 79295 genome.wustl.edu 37 3 97983729 97983729 + Silent SNP T T C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 97983729 97983729 T C SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known silent c.601 p.L201 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 74 38 33.93 87 0 0.00 OR5H6 79295 genome.wustl.edu 37 3 97983880 97983880 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 97983880 97983880 G A SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known missense c.752 p.R251Q 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 17 8 32.00 86 0 0.00 OR5I1 10798 genome.wustl.edu 37 11 55703784 55703784 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 55703784 55703784 G C SNP OR5I1 ENST00000301532 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 22 15 40.54 16 0 0.00 OR5L1 219437 genome.wustl.edu 37 11 55579658 55579658 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 55579658 55579658 C G SNP OR5L1 ENST00000333973 human ensembl 70_37 +1 known missense c.716 p.S239C 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 55 47 46.08 57 0 0.00 OR5L1 219437 genome.wustl.edu 37 11 55579854 55579854 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 55579854 55579854 G C SNP OR5L1 ENST00000333973 human ensembl 70_37 +1 known silent c.912 p.V304 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 8 3 27.27 23 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55594997 55594997 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 55594997 55594997 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known silent c.303 p.F101 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 28 8 22.22 116 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55595001 55595001 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 55595001 55595001 T C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known silent c.307 p.L103 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 69 39 36.11 89 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55595169 55595169 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55595169 55595169 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.475 p.H159Y 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 35 41 53.95 52 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55595315 55595315 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 55595315 55595315 G C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.621 p.E207D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 50 6 10.71 34 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55595315 55595315 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 55595315 55595315 G C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.621 p.E207D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 53 10 15.87 300 0 0.00 OR5L2 26338 genome.wustl.edu 37 11 55595383 55595383 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 55595383 55595383 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.689 p.S230F 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 84 38 31.15 106 0 0.00 OR5M1 390168 genome.wustl.edu 37 11 56380559 56380559 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 56380559 56380559 G C SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known missense c.420 p.I140M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 2 20 90.91 32 0 0.00 OR5M1 390168 genome.wustl.edu 37 11 56380697 56380697 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 56380697 56380697 G A SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known silent c.282 p.Y94 0.015 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 31 23 42.59 46 0 0.00 OR5M1 390168 genome.wustl.edu 37 11 56380779 56380779 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 56380779 56380779 G T SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known missense c.200 p.S67Y 0.620 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 57 39 40.62 80 0 0.00 OR5M10 390167 genome.wustl.edu 37 11 56344766 56344766 + Silent SNP C C A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 11 56344766 56344766 C A SNP OR5M10 ENST00000526812 human ensembl 70_37 -1 known silent c.432 p.L144 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 61 34 35.79 94 0 0.00 OR5M10 390167 genome.wustl.edu 37 11 56344838 56344838 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 56344838 56344838 C G SNP OR5M10 ENST00000526812 human ensembl 70_37 -1 known missense c.360 p.L120F 0.101 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 27 10 27.03 47 0 0.00 OR5M11 219487 genome.wustl.edu 37 11 56309909 56309909 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56309909 56309909 G T SNP OR5M11 ENST00000528616 human ensembl 70_37 -1 known silent c.825 p.V275 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 8 3 27.27 24 0 0.00 OR5M11 219487 genome.wustl.edu 37 11 56310180 56310180 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56310180 56310180 T G SNP OR5M11 ENST00000528616 human ensembl 70_37 -1 known missense c.554 p.K185T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 12 14 53.85 46 0 0.00 OR5M3 219482 genome.wustl.edu 37 11 56237174 56237174 + Missense_Mutation SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 11 56237174 56237174 T C SNP OR5M3 ENST00000312240 human ensembl 70_37 -1 known missense c.800 p.E267G 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 6 5 45.45 17 0 0.00 OR5M8 219484 genome.wustl.edu 37 11 56258535 56258535 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 56258535 56258535 G A SNP OR5M8 ENST00000327216 human ensembl 70_37 -1 known silent c.312 p.I104 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 32 22 40.00 81 0 0.00 OR5M8 219484 genome.wustl.edu 37 11 56258761 56258761 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 56258761 56258761 A G SNP OR5M8 ENST00000327216 human ensembl 70_37 -1 known missense c.86 p.L29P 0.062 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 20 4 16.67 30 0 0.00 OR5P2 120065 genome.wustl.edu 37 11 7818375 7818375 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 7818375 7818375 G A SNP OR5P2 ENST00000329434 human ensembl 70_37 -1 known missense c.115 p.L39F 0.824 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 22 7 24.14 28 0 0.00 OR5P3 120066 genome.wustl.edu 37 11 7846834 7846834 + Missense_Mutation SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 7846834 7846834 T C SNP OR5P3 ENST00000328375 human ensembl 70_37 -1 known missense c.686 p.H229R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 51 11 17.74 76 0 0.00 OR5R1 219479 genome.wustl.edu 37 11 56185669 56185669 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 56185669 56185669 G C SNP OR5R1 ENST00000312253 human ensembl 70_37 -1 known missense c.40 p.L14V 0.969 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 15 3 16.67 21 0 0.00 OR5T2 219464 genome.wustl.edu 37 11 56000560 56000560 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 56000560 56000560 G A SNP OR5T2 ENST00000313264 human ensembl 70_37 -1 known silent c.102 p.F34 0.160 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 16 10 38.46 24 0 0.00 OR5T3 390154 genome.wustl.edu 37 11 56019727 56019727 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 56019727 56019727 G A SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.52 p.E18K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 40 11 21.57 47 0 0.00 OR5T3 390154 genome.wustl.edu 37 11 56020110 56020110 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 56020110 56020110 G C SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.435 p.L145F 0.697 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 59 44 42.72 83 0 0.00 OR5T3 390154 genome.wustl.edu 37 11 56020507 56020507 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 56020507 56020507 G A SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.832 p.V278M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 23 39 62.90 103 0 0.00 OR5T3 390154 genome.wustl.edu 37 11 56020545 56020545 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 56020545 56020545 G C SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.870 p.M290I 0.411 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 148 32 17.78 211 0 0.00 OR5W2 390148 genome.wustl.edu 37 11 55681195 55681195 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55681195 55681195 C G SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known silent c.864 p.L288 0.816 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 15 21 58.33 46 0 0.00 OR5W2 390148 genome.wustl.edu 37 11 55681343 55681343 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 55681343 55681343 G C SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known missense c.716 p.S239C 0.850 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 15 9 37.50 22 0 0.00 OR5W2 390148 genome.wustl.edu 37 11 55681565 55681565 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 55681565 55681565 C T SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known missense c.494 p.R165H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 86 10 10.42 120 0 0.00 OR6B1 135946 genome.wustl.edu 37 7 143701486 143701486 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143701486 143701486 C A SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known missense c.397 p.P133T 0.534 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 36 4 10.00 32 0 0.00 OR6B1 135946 genome.wustl.edu 37 7 143701561 143701561 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 143701561 143701561 G A SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known missense c.472 p.A158T 0.583 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 21 4 16.00 41 0 0.00 OR6B1 135946 genome.wustl.edu 37 7 143701854 143701854 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 143701854 143701854 C T SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known silent c.765 p.F255 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 48 17 26.15 53 0 0.00 OR6B2 389090 genome.wustl.edu 37 2 240969076 240969076 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 240969076 240969076 G A SNP OR6B2 ENST00000402971 human ensembl 70_37 -1 known silent c.771 p.F257 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 51 15 22.73 43 0 0.00 OR6B2 389090 genome.wustl.edu 37 2 240969469 240969469 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 240969469 240969469 G C SNP OR6B2 ENST00000402971 human ensembl 70_37 -1 known missense c.378 p.I126M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 7 6 46.15 12 0 0.00 OR6B3 150681 genome.wustl.edu 37 2 240984708 240984708 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 240984708 240984708 C T SNP OR6B3 ENST00000319423 human ensembl 70_37 -1 known missense c.782 p.R261Q 0.936 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 18 9 33.33 44 0 0.00 OR6C1 390321 genome.wustl.edu 37 12 55714406 55714407 + Frame_Shift_Ins INS - - A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 12 55714406 55714407 - A INS OR6C1 ENST00000379668 human ensembl 70_37 +1 known frame_shift_ins c.23_24 p.E9fs 0.038:0.306 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 34 4 10.53 32 0 0.00 OR6C1 390321 genome.wustl.edu 37 12 55714417 55714417 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 55714417 55714417 C G SNP OR6C1 ENST00000379668 human ensembl 70_37 +1 known missense c.34 p.L12V 0.909 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 16 23 58.97 25 0 0.00 OR6C1 390321 genome.wustl.edu 37 12 55714984 55714984 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 55714984 55714984 G T SNP OR6C1 ENST00000379668 human ensembl 70_37 +1 known missense c.601 p.A201S 0.606 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 33 14 29.79 26 0 0.00 OR6C2 341416 genome.wustl.edu 37 12 55846307 55846307 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 55846307 55846307 C G SNP OR6C2 ENST00000322678 human ensembl 70_37 +1 known missense c.310 p.L104V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 50 42 45.16 75 0 0.00 OR6C6 283365 genome.wustl.edu 37 12 55688303 55688303 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 55688303 55688303 G A SNP OR6C6 ENST00000358433 human ensembl 70_37 -1 known silent c.714 p.T238 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 87 10 10.31 47 0 0.00 OR6C6 283365 genome.wustl.edu 37 12 55688775 55688775 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 55688775 55688775 A G SNP OR6C6 ENST00000358433 human ensembl 70_37 -1 known missense c.242 p.I81T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 49 8 14.04 15 0 0.00 OR6C65 403282 genome.wustl.edu 37 12 55795184 55795184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 55795184 55795184 G A SNP OR6C65 ENST00000379665 human ensembl 70_37 +1 known missense c.872 p.R291K 0.968 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C65 HGNC ENSG00000205328 66 21 24.14 97 0 0.00 OR6C68 403284 genome.wustl.edu 37 12 55886453 55886453 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 55886453 55886453 C T SNP OR6C68 ENST00000379662 human ensembl 70_37 +1 known nonsense c.307 p.Q103* 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C68 HGNC ENSG00000205327 47 21 30.88 74 0 0.00 OR6C70 390327 genome.wustl.edu 37 12 55863491 55863491 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 55863491 55863491 G A SNP OR6C70 ENST00000327335 human ensembl 70_37 -1 known silent c.432 p.F144 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C70 HGNC ENSG00000184954 59 23 28.05 80 0 0.00 OR6C74 254783 genome.wustl.edu 37 12 55641088 55641088 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 55641088 55641088 C T SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known missense c.17 p.T6I 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 26 17 39.53 32 0 0.00 OR6C74 254783 genome.wustl.edu 37 12 55641611 55641611 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 55641611 55641611 T C SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known silent c.540 p.S180 0.274 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 48 10 17.24 42 0 0.00 OR6C74 254783 genome.wustl.edu 37 12 55641759 55641759 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 55641759 55641759 C G SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known missense c.688 p.Q230E 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 25 9 26.47 24 0 0.00 OR6C75 390323 genome.wustl.edu 37 12 55759219 55759219 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 55759219 55759219 G T SNP OR6C75 ENST00000343399 human ensembl 70_37 +1 known nonsense c.325 p.E109* 0.735 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 13 8 38.10 38 0 0.00 OR6C76 390326 genome.wustl.edu 37 12 55820622 55820622 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 55820622 55820622 G C SNP OR6C76 ENST00000328314 human ensembl 70_37 +1 known missense c.585 p.M195I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 13 5 27.78 21 0 0.00 OR6C76 390326 genome.wustl.edu 37 12 55820808 55820808 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 55820808 55820808 G A SNP OR6C76 ENST00000328314 human ensembl 70_37 +1 known silent c.771 p.V257 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 20 5 20.00 25 0 0.00 OR6J1 79549 genome.wustl.edu 37 14 23102873 23102873 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23102873 23102873 G T SNP OR6J1 ENST00000540461 human ensembl 70_37 -1 known missense c.844 p.P282T 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6J1 HGNC ENSG00000255804 19 14 42.42 29 0 0.00 OR6J1 79549 genome.wustl.edu 37 14 23103083 23103083 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 14 23103083 23103083 G T SNP OR6J1 ENST00000540461 human ensembl 70_37 -1 known missense c.634 p.L212I 0.029 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6J1 HGNC ENSG00000255804 27 4 12.90 42 0 0.00 OR6J1 79549 genome.wustl.edu 37 14 23103689 23103689 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 23103689 23103689 C G SNP OR6J1 ENST00000540461 human ensembl 70_37 -1 known missense c.28 p.E10Q 0.411 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6J1 HGNC ENSG00000255804 25 14 35.90 29 0 0.00 OR6K2 81448 genome.wustl.edu 37 1 158669694 158669694 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158669694 158669694 G A SNP OR6K2 ENST00000359610 human ensembl 70_37 -1 known missense c.749 p.S250L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 47 42 47.19 52 0 0.00 OR6K2 81448 genome.wustl.edu 37 1 158669736 158669736 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 158669736 158669736 C T SNP OR6K2 ENST00000359610 human ensembl 70_37 -1 known missense c.707 p.R236H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 27 14 34.15 26 0 0.00 OR6K3 391114 genome.wustl.edu 37 1 158686965 158686965 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 158686965 158686965 C T SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.989 p.G330E 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 18 10 35.71 29 0 0.00 OR6K3 391114 genome.wustl.edu 37 1 158687406 158687406 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 158687406 158687406 G A SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.548 p.P183L 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 87 19 17.92 143 0 0.00 OR6K3 391114 genome.wustl.edu 37 1 158687490 158687490 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 158687490 158687490 C T SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.464 p.R155Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 15 15 50.00 30 0 0.00 OR6K6 128371 genome.wustl.edu 37 1 158724677 158724677 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 158724677 158724677 G A SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.72 p.Q24 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 108 16 12.90 104 0 0.00 OR6K6 128371 genome.wustl.edu 37 1 158724728 158724728 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 158724728 158724728 C G SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.123 p.L41 0.959 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 34 39 53.42 67 0 0.00 OR6K6 128371 genome.wustl.edu 37 1 158725553 158725553 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 158725553 158725553 C T SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.948 p.I316 0.840 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 42 11 20.75 32 0 0.00 OR6M1 390261 genome.wustl.edu 37 11 123676287 123676287 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 123676287 123676287 C T SNP OR6M1 ENST00000309154 human ensembl 70_37 -1 known silent c.771 p.V257 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 83 26 23.85 111 0 0.00 OR6M1 390261 genome.wustl.edu 37 11 123676786 123676786 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123676786 123676786 G T SNP OR6M1 ENST00000309154 human ensembl 70_37 -1 known missense c.272 p.S91Y 0.162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 30 23 43.40 76 0 0.00 OR6N1 128372 genome.wustl.edu 37 1 158735560 158735560 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158735560 158735560 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.913 p.L305 0.101 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 73 28 27.72 76 0 0.00 OR6N1 128372 genome.wustl.edu 37 1 158735609 158735609 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158735609 158735609 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.864 p.F288 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 86 32 27.12 91 0 0.00 OR6N1 128372 genome.wustl.edu 37 1 158736195 158736195 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158736195 158736195 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known missense c.278 p.S93L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 27 12 30.77 44 0 0.00 OR6N1 128372 genome.wustl.edu 37 1 158736267 158736267 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158736267 158736267 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known missense c.206 p.S69L 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 33 9 21.43 19 0 0.00 OR6N1 128372 genome.wustl.edu 37 1 158736386 158736386 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158736386 158736386 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.87 p.L29 0.002 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 15 7 31.82 14 0 0.00 OR6N2 81442 genome.wustl.edu 37 1 158747044 158747044 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 158747044 158747044 G A SNP OR6N2 ENST00000339258 human ensembl 70_37 -1 known missense c.382 p.R128W 0.236 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 29 13 30.95 24 0 0.00 OR6Q1 219952 genome.wustl.edu 37 11 57799064 57799064 + Missense_Mutation SNP T T G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 57799064 57799064 T G SNP OR6Q1 ENST00000302622 human ensembl 70_37 +1 known missense c.640 p.S214A 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Q1 HGNC ENSG00000172381 22 4 15.38 36 0 0.00 OR6Q1 219952 genome.wustl.edu 37 11 57799099 57799099 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 57799099 57799099 C T SNP OR6Q1 ENST00000302622 human ensembl 70_37 +1 known silent c.675 p.I225 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Q1 HGNC ENSG00000172381 27 5 15.62 24 0 0.00 OR6S1 341799 genome.wustl.edu 37 14 21109728 21109728 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21109728 21109728 C G SNP OR6S1 ENST00000320704 human ensembl 70_37 -1 known silent c.123 p.L41 0.027 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6S1 HGNC ENSG00000181803 25 9 26.47 36 0 0.00 OR6T1 219874 genome.wustl.edu 37 11 123813598 123813598 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 123813598 123813598 C T SNP OR6T1 ENST00000321252 human ensembl 70_37 -1 known silent c.948 p.L316 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 160 32 16.67 193 0 0.00 OR6W1P 89883 genome.wustl.edu 37 7 142760157 142760157 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 142760157 142760157 G A SNP OR6W1P ENST00000496192 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OR6W1P HGNC ENSG00000179420 19 8 29.63 29 0 0.00 OR6Y1 391112 genome.wustl.edu 37 1 158517747 158517747 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 158517747 158517747 A G SNP OR6Y1 ENST00000302617 human ensembl 70_37 -1 known missense c.149 p.I50T 0.301 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 10 4 28.57 24 0 0.00 OR7A17 26333 genome.wustl.edu 37 19 14991727 14991727 + Silent SNP T T A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 14991727 14991727 T A SNP OR7A17 ENST00000327462 human ensembl 70_37 -1 known silent c.441 p.A147 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 84 36 30.00 130 0 0.00 OR7A5 26659 genome.wustl.edu 37 19 14938895 14938895 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 14938895 14938895 G A SNP OR7A5 ENST00000322301 human ensembl 70_37 -1 known silent c.159 p.S53 0.016 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A5 HGNC ENSG00000188269 89 19 17.59 113 0 0.00 OR7C1 26664 genome.wustl.edu 37 19 14910923 14910923 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 14910923 14910923 G T SNP OR7C1 ENST00000248073 human ensembl 70_37 -1 known missense c.26 p.A9D 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 44 5 10.20 56 0 0.00 OR7D2 162998 genome.wustl.edu 37 19 9296840 9296840 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9296840 9296840 A C SNP OR7D2 ENST00000344248 human ensembl 70_37 +1 known missense c.383 p.H128P 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 38 13 25.49 90 0 0.00 OR7E14P 10819 genome.wustl.edu 37 11 17073820 17073820 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 17073820 17073820 C T SNP OR7E14P ENST00000530490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OR7E14P HGNC ENSG00000184669 62 9 12.68 53 0 0.00 OR7E14P 10819 genome.wustl.edu 37 11 17074024 17074024 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 17074024 17074024 C A SNP OR7E14P ENST00000530490 human ensembl 70_37 +1 known rna NULL NULL 0.175 - - - no_errors OR7E14P HGNC ENSG00000184669 33 33 50.00 108 0 0.00 OR7E19P 26651 genome.wustl.edu 37 19 9376402 9376402 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9376402 9376402 G T SNP OR7E19P ENST00000588789 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR7E19P HGNC ENSG00000225980 15 10 40.00 52 0 0.00 OR7E19P 26651 genome.wustl.edu 37 19 9376479 9376479 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 9376479 9376479 C T SNP OR7E19P ENST00000588789 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors OR7E19P HGNC ENSG00000225980 20 11 35.48 24 0 0.00 OR7E24 26648 genome.wustl.edu 37 19 9362120 9362120 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 9362120 9362120 G T SNP OR7E24 ENST00000456448 human ensembl 70_37 +1 known missense c.401 p.S134I 0.042 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 159 35 18.04 154 0 0.00 OR7E5P 219445 genome.wustl.edu 37 12 52501261 52501261 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 52501261 52501261 G T SNP OR7E5P ENST00000546390 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OR7E5P HGNC ENSG00000257542 50 21 29.58 62 0 0.00 OR7E5P 219445 genome.wustl.edu 37 12 52501798 52501798 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 52501798 52501798 G A SNP OR7E5P ENST00000546390 human ensembl 70_37 +1 known rna NULL NULL 0.155 - - - no_errors OR7E5P HGNC ENSG00000257542 8 8 50.00 24 0 0.00 OR7E94P 79273 genome.wustl.edu 37 4 80508906 80508907 + RNA INS - - AA TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 80508906 80508907 - AA INS OR7E94P ENST00000601375 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.015 - - - no_errors OR7E94P HGNC ENSG00000249646 17 2 10.53 17 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9225565 9225565 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 9225565 9225565 A G SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.875 p.L292P 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 21 3 12.50 39 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9225923 9225923 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 9225923 9225923 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 44 10 18.52 38 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9225923 9225923 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 9225923 9225923 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 76 16 17.39 111 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9225957 9225957 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 9225957 9225957 C G SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known silent c.483 p.L161 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 30 11 26.83 26 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9225977 9225977 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 9225977 9225977 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.463 p.D155N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 22 5 18.52 37 0 0.00 OR7G1 125962 genome.wustl.edu 37 19 9226128 9226128 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 9226128 9226128 G C SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known silent c.312 p.V104 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 53 7 11.67 45 0 0.00 OR7G3 390883 genome.wustl.edu 37 19 9237587 9237587 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9237587 9237587 G T SNP OR7G3 ENST00000305444 human ensembl 70_37 -1 known missense c.40 p.L14I 0.735 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 16 15 48.39 60 0 0.00 OR8B12 219858 genome.wustl.edu 37 11 124413323 124413323 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 124413323 124413323 G C SNP OR8B12 ENST00000306842 human ensembl 70_37 -1 known missense c.228 p.I76M 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B12 HGNC ENSG00000170953 19 10 34.48 18 0 0.00 OR8B2 26595 genome.wustl.edu 37 11 124252641 124252641 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 124252641 124252641 A G SNP OR8B2 ENST00000375013 human ensembl 70_37 -1 known missense c.599 p.L200P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 48 10 17.24 82 0 0.00 OR8B2 26595 genome.wustl.edu 37 11 124253147 124253147 + Silent SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 124253147 124253147 A G SNP OR8B2 ENST00000375013 human ensembl 70_37 -1 known silent c.93 p.F31 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 32 6 15.79 35 0 0.00 OR8B3 390271 genome.wustl.edu 37 11 124267083 124267083 + Silent SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 124267083 124267083 G C SNP OR8B3 ENST00000354597 human ensembl 70_37 -1 known silent c.165 p.L55 0.892 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 40 26 39.39 61 0 0.00 OR8B4 283162 genome.wustl.edu 37 11 124293926 124293926 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 124293926 124293926 A G SNP OR8B4 ENST00000356130 human ensembl 70_37 -1 putative missense c.842 p.V281A 0.478 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B4 HGNC ENSG00000198657 5 7 58.33 32 0 0.00 OR8B8 26493 genome.wustl.edu 37 11 124310211 124310211 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 124310211 124310211 G C SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative missense c.771 p.F257L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 40 20 33.33 31 0 0.00 OR8B8 26493 genome.wustl.edu 37 11 124310324 124310324 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 124310324 124310324 G C SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative missense c.658 p.L220V 0.719 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 26 15 36.59 42 0 0.00 OR8B8 26493 genome.wustl.edu 37 11 124310460 124310460 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 124310460 124310460 G A SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative silent c.522 p.V174 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 26 31 54.39 92 0 0.00 OR8D1 283159 genome.wustl.edu 37 11 124179884 124179884 + Frame_Shift_Del DEL A A - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 124179884 124179884 A - DEL OR8D1 ENST00000357821 human ensembl 70_37 -1 known frame_shift_del c.779 p.F260fs 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 15 2 11.76 50 0 0.00 OR8D1 283159 genome.wustl.edu 37 11 124180213 124180213 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 124180213 124180213 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.450 p.F150L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 3 4 57.14 35 0 0.00 OR8D1 283159 genome.wustl.edu 37 11 124180213 124180213 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 124180213 124180213 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.450 p.F150L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 30 6 16.67 35 0 0.00 OR8D1 283159 genome.wustl.edu 37 11 124180503 124180503 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 124180503 124180503 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.160 p.L54V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 11 5 31.25 59 0 0.00 OR8D2 283160 genome.wustl.edu 37 11 124189609 124189609 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 124189609 124189609 C T SNP OR8D2 ENST00000357438 human ensembl 70_37 -1 known missense c.485 p.R162H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 19 16 45.71 39 0 0.00 OR8D4 338662 genome.wustl.edu 37 11 123777647 123777647 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 123777647 123777647 G A SNP OR8D4 ENST00000321355 human ensembl 70_37 +1 known missense c.509 p.G170E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 26 8 23.53 41 0 0.00 OR8D4 338662 genome.wustl.edu 37 11 123777849 123777849 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 123777849 123777849 G A SNP OR8D4 ENST00000321355 human ensembl 70_37 +1 known silent c.711 p.A237 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 14 7 33.33 33 0 0.00 OR8H1 219469 genome.wustl.edu 37 11 56057847 56057847 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 56057847 56057847 G A SNP OR8H1 ENST00000313022 human ensembl 70_37 -1 known missense c.692 p.S231L 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 41 13 24.07 72 0 0.00 OR8H2 390151 genome.wustl.edu 37 11 55872567 55872567 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 55872567 55872567 G T SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known nonsense c.49 p.G17* 0.935 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 91 46 33.58 210 1 0.47 OR8H2 390151 genome.wustl.edu 37 11 55872653 55872653 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 55872653 55872653 G A SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known silent c.135 p.G45 0.434 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 106 13 10.92 106 0 0.00 OR8H2 390151 genome.wustl.edu 37 11 55873012 55873012 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 55873012 55873012 G A SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known missense c.494 p.R165K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 56 13 18.84 97 0 0.00 OR8H3 390152 genome.wustl.edu 37 11 55890080 55890080 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 55890080 55890080 G A SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.232 p.V78I 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 57 39 40.62 132 1 0.75 OR8H3 390152 genome.wustl.edu 37 11 55890680 55890680 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 55890680 55890680 T C SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.832 p.Y278H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 17 7 29.17 51 0 0.00 OR8H3 390152 genome.wustl.edu 37 11 55890695 55890695 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 55890695 55890695 C G SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.847 p.P283A 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 3 21 87.50 35 0 0.00 OR8I2 120586 genome.wustl.edu 37 11 55861336 55861336 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 55861336 55861336 G T SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known missense c.553 p.A185S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 42 25 37.31 61 0 0.00 OR8I2 120586 genome.wustl.edu 37 11 55861422 55861422 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 55861422 55861422 C T SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known silent c.639 p.I213 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 49 35 41.67 79 0 0.00 OR8I2 120586 genome.wustl.edu 37 11 55861448 55861448 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55861448 55861448 C G SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.205 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 60 31 33.70 93 0 0.00 OR8J1 219477 genome.wustl.edu 37 11 56128642 56128642 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 56128642 56128642 C A SNP OR8J1 ENST00000303039 human ensembl 70_37 +1 known missense c.920 p.T307K 0.038 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 83 32 27.83 42 0 0.00 OR8J3 81168 genome.wustl.edu 37 11 55904545 55904545 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 55904545 55904545 G A SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known missense c.650 p.S217F 0.527 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 21 5 19.23 24 0 0.00 OR8J3 81168 genome.wustl.edu 37 11 55904865 55904865 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 55904865 55904865 C T SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known silent c.330 p.S110 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 39 12 23.53 29 0 0.00 OR8J3 81168 genome.wustl.edu 37 11 55904865 55904865 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 55904865 55904865 C T SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known silent c.330 p.S110 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 94 25 21.01 120 0 0.00 OR8K1 390157 genome.wustl.edu 37 11 56113585 56113585 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56113585 56113585 C A SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known missense c.71 p.T24K 0.648 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 41 26 38.81 124 0 0.00 OR8K1 390157 genome.wustl.edu 37 11 56113638 56113638 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56113638 56113638 C T SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known silent c.124 p.L42 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 54 27 32.93 115 0 0.00 OR8K1 390157 genome.wustl.edu 37 11 56114370 56114370 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 56114370 56114370 C A SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known missense c.856 p.L286M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 18 4 18.18 26 0 0.00 OR8K3 219473 genome.wustl.edu 37 11 56085805 56085805 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 56085805 56085805 C T SNP OR8K3 ENST00000312711 human ensembl 70_37 +1 known missense c.23 p.T8M 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 34 31 47.69 58 0 0.00 OR8K3 219473 genome.wustl.edu 37 11 56086680 56086681 + Frame_Shift_Ins INS - - A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 56086680 56086681 - A INS OR8K3 ENST00000312711 human ensembl 70_37 +1 known frame_shift_ins c.898_899 p.L300fs 0.004:0.022 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 22 8 26.67 68 0 0.00 OR8K5 219453 genome.wustl.edu 37 11 55926966 55926966 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 55926966 55926966 C T SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known silent c.828 p.V276 0.245 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 18 8 30.77 15 0 0.00 OR8K5 219453 genome.wustl.edu 37 11 55927085 55927085 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 55927085 55927085 C G SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.709 p.A237P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 18 5 21.74 25 0 0.00 OR8K5 219453 genome.wustl.edu 37 11 55927137 55927137 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 55927137 55927137 C T SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.657 p.M219I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 29 9 23.68 55 0 0.00 OR8K5 219453 genome.wustl.edu 37 11 55927228 55927228 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 55927228 55927228 C A SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.566 p.C189F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 40 10 20.00 43 0 0.00 OR8S1 341568 genome.wustl.edu 37 12 48919717 48919717 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 48919717 48919717 C T SNP OR8S1 ENST00000310194 human ensembl 70_37 +1 known silent c.303 p.V101 0.836 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 46 35 43.21 44 0 0.00 OR8U1 219417 genome.wustl.edu 37 11 56143163 56143163 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 56143163 56143163 G C SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.64 p.E22Q 0.041 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 29 9 23.68 44 0 0.00 OR8U1 219417 genome.wustl.edu 37 11 56143175 56143175 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 56143175 56143175 C T SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.76 p.P26S 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 32 7 17.95 33 0 0.00 OR8U1 219417 genome.wustl.edu 37 11 56143423 56143423 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56143423 56143423 G T SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.324 p.M108I 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 23 12 34.29 39 0 0.00 OR8U1 219417 genome.wustl.edu 37 11 56143745 56143745 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 56143745 56143745 G A SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.646 p.V216I 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 154 28 15.38 264 0 0.00 OR8U1 219417 genome.wustl.edu 37 11 56143873 56143873 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 56143873 56143873 G C SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.774 p.M258I 0.762 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 6 6 50.00 31 0 0.00 OR9G1 390174 genome.wustl.edu 37 11 56468523 56468523 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 56468523 56468523 C T SNP OR9G1 ENST00000312153 human ensembl 70_37 +1 known silent c.660 p.I220 0.954 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 81 21 20.39 84 0 0.00 OR9G4 283189 genome.wustl.edu 37 11 56510605 56510605 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 56510605 56510605 G T SNP OR9G4 ENST00000302957 human ensembl 70_37 -1 known missense c.683 p.A228D 0.162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 25 31 55.36 38 0 0.00 OR9K2 441639 genome.wustl.edu 37 12 55523629 55523629 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 55523629 55523629 G T SNP OR9K2 ENST00000305377 human ensembl 70_37 +1 known missense c.77 p.R26M 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 22 3 12.00 40 0 0.00 OR9Q1 219956 genome.wustl.edu 37 11 57947066 57947066 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 57947066 57947066 C T SNP OR9Q1 ENST00000335397 human ensembl 70_37 +1 known silent c.150 p.L50 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 245 107 30.31 375 1 0.27 OR9Q1 219956 genome.wustl.edu 37 11 57947066 57947066 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57947066 57947066 C T SNP OR9Q1 ENST00000335397 human ensembl 70_37 +1 known silent c.150 p.L50 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 4 36 90.00 56 0 0.00 OR9Q2 219957 genome.wustl.edu 37 11 57958484 57958484 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 57958484 57958484 C G SNP OR9Q2 ENST00000311591 human ensembl 70_37 +1 known missense c.522 p.I174M 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q2 HGNC ENSG00000186513 28 4 12.50 28 0 0.00 ORAI3 93129 genome.wustl.edu 37 16 30964697 30964697 + Silent SNP C C T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 16 30964697 30964697 C T SNP ORAI3 ENST00000318663 human ensembl 70_37 +1 known silent c.420 p.H140 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 22 14 38.89 21 0 0.00 ORAOV1 220064 genome.wustl.edu 37 11 69482387 69482387 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 69482387 69482387 C A SNP ORAOV1 ENST00000537324 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ORAOV1 HGNC ENSG00000149716 24 5 17.24 36 0 0.00 ORAOV1 220064 genome.wustl.edu 37 11 69486572 69486572 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 69486572 69486572 C A SNP ORAOV1 ENST00000279147 human ensembl 70_37 -1 known missense c.172 p.G58C 0.972 pfam_Essential_protein_Yae1_N pfam_Essential_protein_Yae1_N - no_errors ORAOV1 HGNC ENSG00000149716 39 12 23.53 50 0 0.00 ORC1 4998 genome.wustl.edu 37 1 52850273 52850273 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 52850273 52850273 G C SNP ORC1 ENST00000371566 human ensembl 70_37 -1 known silent c.1704 p.V568 1.000 pfam_ATPase_AAA_core,pfam_DUF2075,smart_AAA+_ATPase pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 31 9 22.50 40 0 0.00 ORC1 4998 genome.wustl.edu 37 1 52854276 52854276 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 52854276 52854276 C T SNP ORC1 ENST00000371566 human ensembl 70_37 -1 known silent c.1221 p.E407 0.662 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 37 14 27.45 77 0 0.00 ORC1 4998 genome.wustl.edu 37 1 52859356 52859356 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 52859356 52859356 C G SNP ORC1 ENST00000371566 human ensembl 70_37 -1 known missense c.841 p.D281H 0.017 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 32 13 28.89 55 0 0.00 ORC2 4999 genome.wustl.edu 37 2 201791584 201791584 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 201791584 201791584 C T SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known silent c.957 p.K319 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 12 12 50.00 41 0 0.00 ORC2 4999 genome.wustl.edu 37 2 201800483 201800483 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201800483 201800483 C G SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known missense c.647 p.R216T 0.049 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 45 18 28.57 25 0 0.00 ORC2 4999 genome.wustl.edu 37 2 201800579 201800579 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 201800579 201800579 G C SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known missense c.551 p.S184C 1.000 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 42 16 27.59 34 0 0.00 ORC3 23595 genome.wustl.edu 37 6 88367713 88367713 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 88367713 88367713 G C SNP ORC3 ENST00000257789 human ensembl 70_37 +1 known silent c.1671 p.V557 0.999 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 31 7 18.42 39 0 0.00 ORC4 5000 genome.wustl.edu 37 2 148705775 148705775 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 148705775 148705775 C G SNP ORC4 ENST00000264169 human ensembl 70_37 -1 known missense c.607 p.E203Q 1.000 pfam_ATPase_AAA_core,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 74 29 28.16 78 0 0.00 ORC4 5000 genome.wustl.edu 37 2 148710052 148710052 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 148710052 148710052 C T SNP ORC4 ENST00000264169 human ensembl 70_37 -1 known missense c.478 p.E160K 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 66 22 25.00 131 0 0.00 ORC5 5001 genome.wustl.edu 37 7 103767296 103767296 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 103767296 103767296 C T SNP ORC5 ENST00000297431 human ensembl 70_37 -1 known silent c.1307 p.*436 1.000 NULL NULL - no_errors ORC5 HGNC ENSG00000164815 22 22 50.00 38 0 0.00 ORC6 23594 genome.wustl.edu 37 16 46723632 46723632 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 46723632 46723632 G C SNP ORC6 ENST00000219097 human ensembl 70_37 +1 known silent c.15 p.L5 0.000 NULL pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 44 21 32.31 50 0 0.00 ORM1 5004 genome.wustl.edu 37 9 117085984 117085984 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 117085984 117085984 C T SNP ORM1 ENST00000538816 human ensembl 70_37 +1 known nonsense c.571 p.R191* 0.000 NULL NULL - no_errors ORM1 HGNC ENSG00000229314 52 8 13.33 66 0 0.00 ORM1 5004 genome.wustl.edu 37 9 117086070 117086070 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 117086070 117086070 G C SNP ORM1 ENST00000259396 human ensembl 70_37 +1 known missense c.242 p.R81T 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM1 HGNC ENSG00000229314 67 25 27.17 69 0 0.00 ORM2 5005 genome.wustl.edu 37 9 117092310 117092310 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 117092310 117092310 G A SNP ORM2 ENST00000412657 human ensembl 70_37 +1 known nonsense c.126 p.W42* 0.001 NULL NULL - no_errors ORM2 HGNC ENSG00000228278 53 16 23.19 74 0 0.00 ORMDL2 29095 genome.wustl.edu 37 12 56213206 56213206 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 12 56213206 56213206 C T SNP ORMDL2 ENST00000243045 human ensembl 70_37 +1 known silent c.255 p.H85 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC ENSG00000123353 65 33 33.67 54 0 0.00 ORMDL2 29095 genome.wustl.edu 37 12 56214128 56214128 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 56214128 56214128 G A SNP ORMDL2 ENST00000243045 human ensembl 70_37 +1 known silent c.411 p.P137 0.765 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC ENSG00000123353 102 26 20.31 116 0 0.00 OS9 10956 genome.wustl.edu 37 12 58088581 58088581 + Missense_Mutation SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 58088581 58088581 T A SNP OS9 ENST00000315970 human ensembl 70_37 +1 known missense c.211 p.Y71N 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 33 6 15.38 86 0 0.00 OS9 10956 genome.wustl.edu 37 12 58112097 58112097 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 58112097 58112097 G A SNP OS9 ENST00000315970 human ensembl 70_37 +1 known missense c.1303 p.E435K 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 82 21 20.39 145 0 0.00 OSBP 5007 genome.wustl.edu 37 11 59344396 59344396 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 59344396 59344396 C A SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.2163 p.Q721H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 27 10 27.03 47 0 0.00 OSBP 5007 genome.wustl.edu 37 11 59344396 59344396 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 59344396 59344396 C G SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.2163 p.Q721H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 35 15 30.00 31 0 0.00 OSBP 5007 genome.wustl.edu 37 11 59361137 59361137 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 59361137 59361137 G A SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.1618 p.R540C 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 40 17 29.82 47 0 0.00 OSBP2 23762 genome.wustl.edu 37 22 31266552 31266552 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31266552 31266552 C G SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known silent c.990 p.L330 0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 57 12 17.39 92 0 0.00 OSBP2 23762 genome.wustl.edu 37 22 31266626 31266626 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31266626 31266626 A T SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known missense c.1064 p.E355V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 61 16 20.78 96 0 0.00 OSBP2 23762 genome.wustl.edu 37 22 31283450 31283450 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 31283450 31283450 G T SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known missense c.1145 p.S382I 1.000 superfamily_DNA-bd_dom_put pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 36 12 24.49 48 0 0.00 OSBPL11 114885 genome.wustl.edu 37 3 125257330 125257330 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 125257330 125257330 C T SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known silent c.1989 p.V663 0.557 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 188 27 12.56 71 0 0.00 OSBPL11 114885 genome.wustl.edu 37 3 125271449 125271449 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 125271449 125271449 G A SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known silent c.1230 p.D410 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 16 7 30.43 24 0 0.00 OSBPL11 114885 genome.wustl.edu 37 3 125282577 125282577 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 125282577 125282577 C G SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known missense c.979 p.E327Q 0.786 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 145 34 18.99 194 0 0.00 OSBPL11 114885 genome.wustl.edu 37 3 125295085 125295085 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 125295085 125295085 G A SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known missense c.614 p.S205L 0.483 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 73 18 19.78 42 0 0.00 OSBPL1A 114876 genome.wustl.edu 37 18 21746657 21746657 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 21746657 21746657 A C SNP OSBPL1A ENST00000319481 human ensembl 70_37 -1 known missense c.2545 p.F849V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 31 16 34.04 62 0 0.00 OSBPL1A 114876 genome.wustl.edu 37 18 21750344 21750344 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 18 21750344 21750344 C T SNP OSBPL1A ENST00000319481 human ensembl 70_37 -1 known missense c.2365 p.A789T 0.997 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 13 12 48.00 82 0 0.00 OSBPL1A 114876 genome.wustl.edu 37 18 21819247 21819247 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 21819247 21819247 G C SNP OSBPL1A ENST00000319481 human ensembl 70_37 -1 known missense c.1381 p.L461V 0.991 NULL pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 53 10 15.87 42 0 0.00 OSBPL2 9885 genome.wustl.edu 37 20 60854321 60854321 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 60854321 60854321 C T SNP OSBPL2 ENST00000313733 human ensembl 70_37 +1 known silent c.600 p.I200 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 98 55 35.95 67 0 0.00 OSBPL2 9885 genome.wustl.edu 37 20 60856904 60856904 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 60856904 60856904 C G SNP OSBPL2 ENST00000313733 human ensembl 70_37 +1 known missense c.841 p.H281D 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 74 30 28.57 109 0 0.00 OSBPL3 26031 genome.wustl.edu 37 7 24854690 24854690 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 24854690 24854690 C A SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known silent c.2160 p.V720 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 22 19 46.34 47 0 0.00 OSBPL3 26031 genome.wustl.edu 37 7 24874252 24874252 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 7 24874252 24874252 C T SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known silent c.1599 p.R533 0.448 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 42 8 16.00 43 0 0.00 OSBPL3 26031 genome.wustl.edu 37 7 24910400 24910400 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 24910400 24910400 G A SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known missense c.332 p.S111L 0.994 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 28 6 17.65 26 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3114171 3114171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 3114171 3114171 C G SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.2058 p.E686D 0.742 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 72 42 36.84 123 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3114255 3114255 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 3114255 3114255 G C SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.1974 p.I658M 0.860 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 61 9 12.86 61 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3124503 3124503 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 3124503 3124503 C T SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.1292 p.R431Q 0.818 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 18 6 25.00 17 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3125479 3125479 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 3125479 3125479 C T SNP OSBPL5 ENST00000471998 human ensembl 70_37 -1 known missense c.335 p.R112H 0.005 NULL NULL - no_errors OSBPL5 HGNC ENSG00000021762 25 21 45.65 56 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3128499 3128499 + Silent SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 3128499 3128499 C G SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known silent c.1053 p.L351 0.448 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 30 19 38.78 63 0 0.00 OSBPL5 114879 genome.wustl.edu 37 11 3140812 3140812 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 3140812 3140812 C A SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.656 p.S219I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 24 4 14.29 43 0 0.00 OSBPL7 114881 genome.wustl.edu 37 17 45886521 45886521 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 45886521 45886521 G A SNP OSBPL7 ENST00000007414 human ensembl 70_37 -1 known silent c.2091 p.V697 0.991 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 28 11 28.21 31 0 0.00 OSBPL8 114882 genome.wustl.edu 37 12 76772318 76772318 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 76772318 76772318 G A SNP OSBPL8 ENST00000261183 human ensembl 70_37 -1 known missense c.1643 p.S548F 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 36 6 14.29 57 0 0.00 OSBPL8 114882 genome.wustl.edu 37 12 76778126 76778126 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 76778126 76778126 G A SNP OSBPL8 ENST00000261183 human ensembl 70_37 -1 known missense c.1538 p.S513F 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 54 6 10.00 64 0 0.00 OSBPL9 114883 genome.wustl.edu 37 1 52117690 52117690 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 52117690 52117690 C T SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known missense c.193 p.R65C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 38 23 37.70 39 0 0.00 OSBPL9 114883 genome.wustl.edu 37 1 52179728 52179728 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 52179728 52179728 C G SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known missense c.349 p.L117V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 36 30 45.45 55 0 0.00 OSBPL9 114883 genome.wustl.edu 37 1 52238276 52238276 + Splice_Site SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 52238276 52238276 G A SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known splice_site c.1106-1 e14-1 1.000 - - - no_errors OSBPL9 HGNC ENSG00000117859 39 10 20.41 68 0 0.00 OSCP1 127700 genome.wustl.edu 37 1 36883706 36883706 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 36883706 36883706 C T SNP OSCP1 ENST00000471369 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OSCP1 HGNC ENSG00000116885 25 20 44.44 25 0 0.00 OSCP1 127700 genome.wustl.edu 37 1 36883838 36883838 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 36883838 36883838 C G SNP OSCP1 ENST00000235532 human ensembl 70_37 -1 known missense c.1042 p.E348Q 1.000 NULL pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 81 16 16.49 96 0 0.00 OSCP1 127700 genome.wustl.edu 37 1 36889072 36889072 + RNA DEL A A - TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 36889072 36889072 A - DEL OSCP1 ENST00000495222 human ensembl 70_37 -1 known rna NULL NULL 0.273 - - - no_errors OSCP1 HGNC ENSG00000116885 13 6 31.58 21 0 0.00 OSCP1 127700 genome.wustl.edu 37 1 36904398 36904398 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36904398 36904398 G A SNP OSCP1 ENST00000235532 human ensembl 70_37 -1 known missense c.226 p.H76Y 1.000 pfam_OSCP1 pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 70 10 12.50 59 0 0.00 OSGEPL1 64172 genome.wustl.edu 37 2 190618675 190618675 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 190618675 190618675 C G SNP OSGEPL1 ENST00000264151 human ensembl 70_37 -1 known missense c.930 p.Q310H 0.999 pfam_Gcp-like_dom,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 32 22 40.74 35 0 0.00 OSGIN1 29948 genome.wustl.edu 37 16 83999202 83999202 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 83999202 83999202 C T SNP OSGIN1 ENST00000361711 human ensembl 70_37 +1 known nonsense c.1024 p.Q342* 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 28 19 40.43 76 0 0.00 OSGIN2 734 genome.wustl.edu 37 8 90937101 90937101 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 90937101 90937101 G C SNP OSGIN2 ENST00000451899 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 138 44 24.18 197 0 0.00 OSGIN2 734 genome.wustl.edu 37 8 90937187 90937187 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 90937187 90937187 C T SNP OSGIN2 ENST00000451899 human ensembl 70_37 +1 known silent c.1077 p.D359 0.998 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 32 4 11.11 41 0 0.00 OSMR 9180 genome.wustl.edu 37 5 38876431 38876431 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 38876431 38876431 C T SNP OSMR ENST00000274276 human ensembl 70_37 +1 known nonsense c.202 p.Q68* 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 114 18 13.64 79 0 0.00 OSMR 9180 genome.wustl.edu 37 5 38884119 38884119 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 38884119 38884119 G T SNP OSMR ENST00000274276 human ensembl 70_37 +1 known silent c.609 p.V203 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 44 12 21.43 42 0 0.00 OSR1 130497 genome.wustl.edu 37 2 19553095 19553095 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 19553095 19553095 G C SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known missense c.472 p.P158A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 21 18 46.15 75 0 0.00 OSR1 130497 genome.wustl.edu 37 2 19553114 19553114 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 19553114 19553114 G C SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known silent c.453 p.L151 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 18 17 48.57 74 0 0.00 OSR1 130497 genome.wustl.edu 37 2 19553221 19553221 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 19553221 19553221 G A SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known missense c.346 p.R116C 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 27 14 34.15 83 0 0.00 OSR2 116039 genome.wustl.edu 37 8 99962942 99962942 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 99962942 99962942 C A SNP OSR2 ENST00000457907 human ensembl 70_37 +1 known missense c.1078 p.Q360K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 42 107 71.81 72 0 0.00 OSTC 58505 genome.wustl.edu 37 4 109578771 109578771 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 109578771 109578771 C - DEL OSTC ENST00000361564 human ensembl 70_37 +1 known frame_shift_del c.399 p.F133fs 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6 - no_errors OSTC HGNC ENSG00000198856 53 9 14.52 69 0 0.00 OSTCP1 202459 genome.wustl.edu 37 6 159263077 159263077 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 159263077 159263077 G T SNP OSTCP1 ENST00000522287 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors OSTCP1 HGNC ENSG00000243775 34 4 10.53 79 0 0.00 OSTM1 28962 genome.wustl.edu 37 6 108365368 108365368 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 108365368 108365368 G C SNP OSTM1 ENST00000492130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OSTM1 HGNC ENSG00000081087 24 18 42.86 49 0 0.00 OTC 5009 genome.wustl.edu 37 X 38211866 38211866 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38211866 38211866 C A SNP OTC ENST00000488812 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors OTC HGNC ENSG00000036473 26 9 25.71 21 0 0.00 OTC 5009 genome.wustl.edu 37 X 38211946 38211946 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 38211946 38211946 G T SNP OTC ENST00000488812 human ensembl 70_37 +1 known rna NULL NULL 0.367 - - - no_errors OTC HGNC ENSG00000036473 25 14 35.90 44 0 0.00 OTC 5009 genome.wustl.edu 37 X 38271134 38271134 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 38271134 38271134 C G SNP OTC ENST00000039007 human ensembl 70_37 +1 known missense c.887 p.S296C 0.969 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 52 17 24.64 109 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21689852 21689852 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 16 21689852 21689852 C T SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.17 p.T6M 0.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 43 45 51.14 54 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21690505 21690505 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 21690505 21690505 C G SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.152 p.A51G 0.988 NULL NULL - no_errors OTOA HGNC ENSG00000155719 27 21 43.75 58 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21690532 21690532 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 21690532 21690532 G C SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.179 p.S60T 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 38 6 13.64 30 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21716722 21716722 + RNA SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 16 21716722 21716722 G A SNP OTOA ENST00000569064 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OTOA HGNC ENSG00000155719 40 7 14.58 28 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21721247 21721247 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 21721247 21721247 G A SNP OTOA ENST00000286149 human ensembl 70_37 +1 known silent c.1185 p.Q395 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 43 16 27.12 44 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21721391 21721391 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21721391 21721391 C A SNP OTOA ENST00000286149 human ensembl 70_37 +1 known silent c.1329 p.I443 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 36 27 42.86 73 0 0.00 OTOA 146183 genome.wustl.edu 37 16 21742211 21742211 + Missense_Mutation SNP T T C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 16 21742211 21742211 T C SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.2303 p.V768A 0.015 NULL NULL - no_errors OTOA HGNC ENSG00000155719 16 32 66.67 58 0 0.00 OTOF 9381 genome.wustl.edu 37 2 26680943 26680943 + Missense_Mutation SNP G G C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 26680943 26680943 G C SNP OTOF ENST00000339598 human ensembl 70_37 -1 known missense c.3658 p.P1220A 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 25 15 37.50 46 0 0.00 OTOF 9381 genome.wustl.edu 37 2 26690260 26690260 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 26690260 26690260 C T SNP OTOF ENST00000272371 human ensembl 70_37 -1 known silent c.4200 p.K1400 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 45 22 32.84 64 0 0.00 OTOF 9381 genome.wustl.edu 37 2 26691336 26691336 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26691336 26691336 G A SNP OTOF ENST00000272371 human ensembl 70_37 -1 known nonsense c.4030 p.R1344* 0.656 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 37 20 35.09 83 0 0.00 OTOF 9381 genome.wustl.edu 37 2 26702252 26702252 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 26702252 26702252 C A SNP OTOF ENST00000272371 human ensembl 70_37 -1 known missense c.2094 p.R698S 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 87 36 29.03 103 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17574730 17574730 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 17574730 17574730 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.393 p.F131 1.000 pfscan_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 30 5 14.29 31 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17596370 17596370 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 17596370 17596370 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.2433 p.G811 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 77 31 28.44 123 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17613067 17613067 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 17613067 17613067 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.2974 p.R992W 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 81 28 25.69 115 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17617633 17617633 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 17617633 17617633 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known nonsense c.3493 p.R1165* 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 36 13 26.53 57 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17632185 17632185 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 17632185 17632185 G A SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.5374 p.D1792N 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 52 23 30.67 58 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17632365 17632365 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 17632365 17632365 C A SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.5554 p.L1852M 0.011 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 11 3 21.43 27 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17633864 17633864 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 17633864 17633864 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.6315 p.L2105 0.960 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 27 17 38.64 25 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17653749 17653749 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 17653749 17653749 G C SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.7084 p.E2362Q 0.960 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 28 10 26.32 25 0 0.00 OTOG 340990 genome.wustl.edu 37 11 17655674 17655674 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 17655674 17655674 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.7362 p.L2454 0.934 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 54 6 10.00 49 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80613628 80613628 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80613628 80613628 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known silent c.243 p.F81 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 16 5 23.81 29 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80647248 80647248 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 80647248 80647248 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.1261 p.L421F 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 27 12 30.77 52 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80651706 80651706 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 80651706 80651706 C A SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.1786 p.Q596K 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 41 22 34.92 62 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80658837 80658837 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80658837 80658837 A C SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.2044 p.I682L 0.060 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 14 11 44.00 30 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80661098 80661098 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 80661098 80661098 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.2429 p.S810L 0.850 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 55 39 41.49 113 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80714324 80714324 + Frame_Shift_Del DEL T T - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 80714324 80714324 T - DEL OTOGL ENST00000458043 human ensembl 70_37 +1 known frame_shift_del c.3898 p.F1301fs 1.000 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 27 3 10.00 28 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80735734 80735734 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 80735734 80735734 G T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.5030 p.C1677F 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 17 3 15.00 22 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80764367 80764367 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 80764367 80764367 C A SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.6606 p.H2202Q 0.938 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 31 4 11.43 53 0 0.00 OTOGL 283310 genome.wustl.edu 37 12 80764416 80764416 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80764416 80764416 A C SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.6655 p.I2219L 0.938 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 50 6 10.71 94 0 0.00 OTOL1 131149 genome.wustl.edu 37 3 161214769 161214769 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 161214769 161214769 C G SNP OTOL1 ENST00000327928 human ensembl 70_37 +1 known silent c.174 p.L58 0.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 68 11 13.92 52 0 0.00 OTOP1 133060 genome.wustl.edu 37 4 4190576 4190576 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 4190576 4190576 C G SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1793 p.R598P 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 25 5 16.67 34 0 0.00 OTOP1 133060 genome.wustl.edu 37 4 4190577 4190577 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 4190577 4190577 G C SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1792 p.R598G 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 25 5 16.67 33 0 0.00 OTOP1 133060 genome.wustl.edu 37 4 4190672 4190672 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 4190672 4190672 C G SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1697 p.R566P 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 62 21 25.30 63 0 0.00 OTOP1 133060 genome.wustl.edu 37 4 4198908 4198908 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 4198908 4198908 G C SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1653 p.F551L 0.998 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 19 16 45.71 20 0 0.00 OTOP1 133060 genome.wustl.edu 37 4 4228450 4228450 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 4228450 4228450 C T SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.142 p.G48S 0.000 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 22 14 38.89 23 0 0.00 OTOP2 92736 genome.wustl.edu 37 17 72921682 72921682 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 72921682 72921682 C T SNP OTOP2 ENST00000331427 human ensembl 70_37 +1 known silent c.345 p.L115 0.003 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 150 38 20.21 180 0 0.00 OTOP2 92736 genome.wustl.edu 37 17 72926924 72926924 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72926924 72926924 G A SNP OTOP2 ENST00000331427 human ensembl 70_37 +1 known silent c.1194 p.L398 0.602 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 34 12 26.09 26 0 0.00 OTOP3 347741 genome.wustl.edu 37 17 72931871 72931871 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72931871 72931871 G A SNP OTOP3 ENST00000580749 human ensembl 70_37 +1 known missense c.5 p.R2K 1.000 NULL NULL - no_errors OTOP3 HGNC ENSG00000182938 49 15 23.44 44 0 0.00 OTOP3 347741 genome.wustl.edu 37 17 72945491 72945491 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 72945491 72945491 G C SNP OTOP3 ENST00000328801 human ensembl 70_37 +1 known missense c.1771 p.E591Q 1.000 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 97 11 10.19 43 0 0.00 OTOR 56914 genome.wustl.edu 37 20 16729605 16729605 + Nonsense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 16729605 16729605 C G SNP OTOR ENST00000246081 human ensembl 70_37 +1 known nonsense c.209 p.S70* 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 59 9 13.24 12 0 0.00 OTUB1 55611 genome.wustl.edu 37 11 63756108 63756108 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 63756108 63756108 G C SNP OTUB1 ENST00000543004 human ensembl 70_37 +1 known missense c.130 p.D44H 0.005 pirsf_Ubiquitin_thioesterase_Otubain pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 13 5 27.78 21 0 0.00 OTUD1 220213 genome.wustl.edu 37 10 23729371 23729371 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 23729371 23729371 G A SNP OTUD1 ENST00000376495 human ensembl 70_37 +1 known missense c.985 p.V329M 0.997 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD1 HGNC ENSG00000165312 52 6 10.34 34 0 0.00 OTUD3 23252 genome.wustl.edu 37 1 20216933 20216933 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20216933 20216933 C G SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known missense c.277 p.L93V 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 68 23 25.27 69 0 0.00 OTUD3 23252 genome.wustl.edu 37 1 20230837 20230837 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20230837 20230837 G A SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known silent c.684 p.L228 0.976 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 47 7 12.96 35 0 0.00 OTUD3 23252 genome.wustl.edu 37 1 20234066 20234069 + Frame_Shift_Del DEL ACAA ACAA - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 20234066 20234069 ACAA - DEL OTUD3 ENST00000375120 human ensembl 70_37 +1 known frame_shift_del c.1024_1027 p.K344fs 1.000:1.000:0.976:1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 50 20 28.57 59 0 0.00 OTUD3 23252 genome.wustl.edu 37 1 20234122 20234122 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20234122 20234122 G C SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known missense c.1080 p.E360D 0.980 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 49 14 22.22 29 0 0.00 OTUD4 54726 genome.wustl.edu 37 4 146058813 146058813 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 146058813 146058813 T A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known missense c.3114 p.R1038S 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 166 29 14.87 265 1 0.38 OTUD4 54726 genome.wustl.edu 37 4 146059410 146059410 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 146059410 146059410 C T SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known silent c.2517 p.Q839 0.112 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 36 27 42.86 41 0 0.00 OTUD4 54726 genome.wustl.edu 37 4 146059410 146059410 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 146059410 146059410 C T SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known silent c.2517 p.Q839 0.112 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 79 28 26.17 128 0 0.00 OTUD4 54726 genome.wustl.edu 37 4 146065559 146065559 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 146065559 146065559 G A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known nonsense c.1450 p.Q484* 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 31 27 46.55 34 0 0.00 OTUD4 54726 genome.wustl.edu 37 4 146065567 146065567 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 146065567 146065567 G A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known missense c.1442 p.S481L 0.911 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 30 27 47.37 35 0 0.00 OTUD5 55593 genome.wustl.edu 37 X 48781175 48781175 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 48781175 48781175 G T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.1433 p.P478Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 51 26 33.77 54 0 0.00 OTUD5 55593 genome.wustl.edu 37 X 48792055 48792055 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48792055 48792055 C T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.839 p.G280D 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 61 22 26.19 69 0 0.00 OTUD5 55593 genome.wustl.edu 37 X 48792259 48792259 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 48792259 48792259 C T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.721 p.E241K 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 39 9 18.75 83 0 0.00 OTUD5 55593 genome.wustl.edu 37 X 48801543 48801543 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 48801543 48801543 T C SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.596 p.Q199R 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 32 25 42.37 81 0 0.00 OTUD6A 139562 genome.wustl.edu 37 X 69282720 69282720 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 69282720 69282720 G C SNP OTUD6A ENST00000338352 human ensembl 70_37 +1 known missense c.346 p.E116Q 0.250 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 2 9 81.82 12 0 0.00 OTUD7A 161725 genome.wustl.edu 37 15 31795972 31795972 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 31795972 31795972 C T SNP OTUD7A ENST00000382902 human ensembl 70_37 -1 known missense c.943 p.V315I 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 7 26 78.79 46 0 0.00 OTUD7A 161725 genome.wustl.edu 37 15 31851254 31851254 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 31851254 31851254 C T SNP OTUD7A ENST00000382902 human ensembl 70_37 -1 known silent c.468 p.L156 0.985 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 38 10 20.41 49 0 0.00 OTUD7B 56957 genome.wustl.edu 37 1 149919220 149919220 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 149919220 149919220 C G SNP OTUD7B ENST00000369135 human ensembl 70_37 -1 known missense c.1255 p.E419Q 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 35 20 36.36 40 0 0.00 OTUD7B 56957 genome.wustl.edu 37 1 149921607 149921607 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 149921607 149921607 G A SNP OTUD7B ENST00000369135 human ensembl 70_37 -1 known silent c.1048 p.L350 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 21 26 55.32 65 0 0.00 OTX2 5015 genome.wustl.edu 37 14 57269054 57269054 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 57269054 57269054 C G SNP OTX2 ENST00000339475 human ensembl 70_37 -1 known missense c.293 p.R98T 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 35 19 35.19 62 0 0.00 OVCH1 341350 genome.wustl.edu 37 12 29631791 29631791 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 29631791 29631791 C T SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known missense c.1046 p.R349Q 0.959 superfamily_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 22 12 35.29 46 0 0.00 OVCH1 341350 genome.wustl.edu 37 12 29639271 29639271 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 29639271 29639271 C T SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known silent c.903 p.R301 0.002 NULL pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 118 49 29.34 140 0 0.00 OVCH1 341350 genome.wustl.edu 37 12 29649141 29649141 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 12 29649141 29649141 G A SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known missense c.254 p.A85V 0.774 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 12 8 40.00 23 0 0.00 OVCH1 341350 genome.wustl.edu 37 12 29649490 29649490 + Missense_Mutation SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 29649490 29649490 T C SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known missense c.182 p.Q61R 0.927 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 36 23 38.98 66 0 0.00 OVCH2 341277 genome.wustl.edu 37 11 7712481 7712481 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 7712481 7712481 G T SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known missense c.1658 p.P553Q 0.000 NULL pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 24 5 17.24 61 0 0.00 OVCH2 341277 genome.wustl.edu 37 11 7716913 7716913 + Splice_Site SNP T T A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 7716913 7716913 T A SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known splice_site c.1172-2 e12-2 0.581 - - - no_errors OVCH2 HGNC ENSG00000183378 13 2 13.33 17 0 0.00 OVCH2 341277 genome.wustl.edu 37 11 7723819 7723819 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 7723819 7723819 G C SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known missense c.348 p.D116E 0.084 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 28 10 26.32 26 0 0.00 OVOL2 58495 genome.wustl.edu 37 20 18022346 18022346 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 18022346 18022346 C T SNP OVOL2 ENST00000278780 human ensembl 70_37 -1 known missense c.343 p.D115N 0.611 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 12 11 47.83 15 0 0.00 OVOL2 58495 genome.wustl.edu 37 20 18038267 18038267 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 18038267 18038267 G T SNP OVOL2 ENST00000278780 human ensembl 70_37 -1 known silent c.12 p.V4 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 37 10 21.28 83 0 0.00 OVOL3 728361 genome.wustl.edu 37 19 36602321 36602321 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36602321 36602321 G A SNP OVOL3 ENST00000262637 human ensembl 70_37 +1 known missense c.145 p.D49N 0.669 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL3 HGNC ENSG00000105261 18 10 35.71 32 0 0.00 OXA1L 5018 genome.wustl.edu 37 14 23235776 23235776 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 23235776 23235776 G T SNP OXA1L ENST00000285848 human ensembl 70_37 +1 known missense c.46 p.A16S 0.829 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC - no_errors OXA1L HGNC ENSG00000155463 29 5 14.71 33 0 0.00 OXA1L 5018 genome.wustl.edu 37 14 23235786 23235786 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 14 23235786 23235786 G C SNP OXA1L ENST00000285848 human ensembl 70_37 +1 known missense c.56 p.R19P 0.000 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC - no_errors OXA1L HGNC ENSG00000155463 26 15 36.59 34 0 0.00 OXCT2 64064 genome.wustl.edu 37 1 40235401 40235401 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 40235401 40235401 G C SNP OXCT2 ENST00000327582 human ensembl 70_37 -1 known silent c.1527 p.L509 0.001 pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 58 13 18.31 76 0 0.00 OXGR1 27199 genome.wustl.edu 37 13 97639486 97639486 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 97639486 97639486 G C SNP OXGR1 ENST00000298440 human ensembl 70_37 -1 known missense c.528 p.N176K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC ENSG00000165621 31 6 16.22 41 0 0.00 OXLD1 339229 genome.wustl.edu 37 17 79632238 79632238 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 79632238 79632238 C T SNP OXLD1 ENST00000374741 human ensembl 70_37 -1 known missense c.437 p.G146E 0.000 NULL pfam_Oxidoreductase-like_N - no_errors OXLD1 HGNC ENSG00000204237 55 42 43.30 78 0 0.00 OXNAD1 92106 genome.wustl.edu 37 3 16313177 16313177 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 16313177 16313177 C T SNP OXNAD1 ENST00000544043 human ensembl 70_37 +1 known missense c.185 p.S62F 1.000 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 18 30 62.50 80 0 0.00 OXNAD1 92106 genome.wustl.edu 37 3 16345057 16345057 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 16345057 16345057 G T SNP OXNAD1 ENST00000544043 human ensembl 70_37 +1 known missense c.981 p.E327D 1.000 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 37 20 35.09 79 0 0.00 OXR1 55074 genome.wustl.edu 37 8 107695447 107695447 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 107695447 107695447 G C SNP OXR1 ENST00000442977 human ensembl 70_37 +1 known missense c.327 p.L109F 1.000 pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 39 16 29.09 42 0 0.00 OXR1 55074 genome.wustl.edu 37 8 107695462 107695462 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 107695462 107695462 G A SNP OXR1 ENST00000442977 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 45 16 26.23 45 0 0.00 OXSM 54995 genome.wustl.edu 37 3 25833167 25833167 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 25833167 25833167 C G SNP OXSM ENST00000280701 human ensembl 70_37 +1 known nonsense c.656 p.S219* 1.000 pfam_Ketoacyl_synth_N,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 54 35 39.33 59 0 0.00 OXSR1 9943 genome.wustl.edu 37 3 38232252 38232252 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 38232252 38232252 C G SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.214 p.H72D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC ENSG00000172939 31 20 39.22 57 0 0.00 OXSR1 9943 genome.wustl.edu 37 3 38240323 38240323 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38240323 38240323 G A SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.403 p.E135K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC ENSG00000172939 47 25 34.72 43 0 0.00 OXSR1 9943 genome.wustl.edu 37 3 38265307 38265307 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 38265307 38265307 G A SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.605 p.R202H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC ENSG00000172939 21 11 34.38 39 0 0.00 OXSR1 9943 genome.wustl.edu 37 3 38271862 38271862 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 3 38271862 38271862 G C SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.892 p.E298Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC ENSG00000172939 30 32 51.61 38 0 0.00 OXTR 5021 genome.wustl.edu 37 3 8794887 8794887 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 8794887 8794887 G A SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.946 p.L316F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 16 11 40.74 30 0 0.00 OXTR 5021 genome.wustl.edu 37 3 8809033 8809033 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 8809033 8809033 C T SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.841 p.V281M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 29 13 30.95 35 0 0.00 OXTR 5021 genome.wustl.edu 37 3 8809218 8809218 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 8809218 8809218 C T SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.656 p.C219Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 26 11 29.73 33 0 0.00 P2RX1 5023 genome.wustl.edu 37 17 3802962 3802962 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3802962 3802962 C T SNP P2RX1 ENST00000225538 human ensembl 70_37 -1 known missense c.841 p.E281K 0.936 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 27 6 18.18 36 0 0.00 P2RX1 5023 genome.wustl.edu 37 17 3806871 3806871 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 3806871 3806871 G A SNP P2RX1 ENST00000225538 human ensembl 70_37 -1 known silent c.579 p.I193 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 46 25 35.21 81 0 0.00 P2RX1 5023 genome.wustl.edu 37 17 3806895 3806895 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 3806895 3806895 G A SNP P2RX1 ENST00000225538 human ensembl 70_37 -1 known silent c.555 p.F185 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 12 5 29.41 38 0 0.00 P2RX2 22953 genome.wustl.edu 37 12 133196044 133196044 + Nonsense_Mutation SNP A A T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 133196044 133196044 A T SNP P2RX2 ENST00000343948 human ensembl 70_37 +1 known nonsense c.193 p.K65* 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 16 5 23.81 25 0 0.00 P2RX2 22953 genome.wustl.edu 37 12 133197112 133197112 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 133197112 133197112 C G SNP P2RX2 ENST00000343948 human ensembl 70_37 +1 known missense c.717 p.F239L 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 28 8 22.22 43 0 0.00 P2RX2 22953 genome.wustl.edu 37 12 133197642 133197642 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 12 133197642 133197642 C T SNP P2RX2 ENST00000343948 human ensembl 70_37 +1 known missense c.830 p.S277L 0.037 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 77 38 33.04 105 0 0.00 P2RX3 5024 genome.wustl.edu 37 11 57108108 57108108 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 57108108 57108108 C A SNP P2RX3 ENST00000533436 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors P2RX3 HGNC ENSG00000109991 36 9 20.00 41 0 0.00 P2RX4 5025 genome.wustl.edu 37 12 121647982 121647982 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 121647982 121647982 C T SNP P2RX4 ENST00000337233 human ensembl 70_37 +1 known silent c.15 p.C5 0.554 prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 8 9 52.94 15 0 0.00 P2RX6 9127 genome.wustl.edu 37 22 21369471 21369471 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 22 21369471 21369471 C T SNP P2RX6 ENST00000413302 human ensembl 70_37 +1 known missense c.8 p.P3L 0.000 NULL pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 38 6 13.64 30 0 0.00 P2RX6 9127 genome.wustl.edu 37 22 21377259 21377259 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 21377259 21377259 C G SNP P2RX6 ENST00000413302 human ensembl 70_37 +1 known missense c.492 p.F164L 0.288 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 28 12 30.00 45 0 0.00 P2RX6 9127 genome.wustl.edu 37 22 21380313 21380313 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 21380313 21380313 G C SNP P2RX6 ENST00000413302 human ensembl 70_37 +1 known missense c.998 p.G333A 0.909 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 0 2 100.00 19 0 0.00 P2RX7 5027 genome.wustl.edu 37 12 121622293 121622293 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 121622293 121622293 G A SNP P2RX7 ENST00000546057 human ensembl 70_37 +1 known silent c.1476 p.R492 0.000 NULL pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 31 14 31.11 34 0 0.00 P2RY1 5028 genome.wustl.edu 37 3 152554066 152554066 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 152554066 152554066 G C SNP P2RY1 ENST00000305097 human ensembl 70_37 +1 known missense c.495 p.K165N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY1 HGNC ENSG00000169860 77 22 22.22 93 0 0.00 P2RY10 27334 genome.wustl.edu 37 X 78216864 78216864 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 78216864 78216864 G A SNP P2RY10 ENST00000171757 human ensembl 70_37 +1 known missense c.847 p.A283T 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY10 HGNC ENSG00000078589 40 5 11.11 70 0 0.00 P2RY12 64805 genome.wustl.edu 37 3 151056222 151056222 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151056222 151056222 G T SNP P2RY12 ENST00000302632 human ensembl 70_37 -1 known missense c.412 p.L138I 0.207 pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY12 HGNC ENSG00000169313 14 8 36.36 30 0 0.00 P2RY13 53829 genome.wustl.edu 37 3 151046163 151046163 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151046163 151046163 A C SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.681 p.F227L 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 16 3 15.79 25 0 0.00 P2RY13 53829 genome.wustl.edu 37 3 151046485 151046485 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 151046485 151046485 G A SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.359 p.S120L 0.321 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 101 25 19.84 22 0 0.00 P2RY13 53829 genome.wustl.edu 37 3 151046611 151046611 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 151046611 151046611 A C SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.233 p.F78C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_UDPG_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 30 19 38.78 42 0 0.00 P2RY14 9934 genome.wustl.edu 37 3 150931786 150931786 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 150931786 150931786 C T SNP P2RY14 ENST00000309170 human ensembl 70_37 -1 known missense c.319 p.V107I 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_UDPG_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor - no_errors P2RY14 HGNC ENSG00000174944 33 16 32.65 38 0 0.00 P2RY4 5030 genome.wustl.edu 37 X 69478492 69478492 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 69478492 69478492 G A SNP P2RY4 ENST00000374519 human ensembl 70_37 -1 known missense c.983 p.P328L 0.001 prints_P2Y4_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor - no_errors P2RY4 HGNC ENSG00000186912 84 77 47.83 104 0 0.00 P2RY4 5030 genome.wustl.edu 37 X 69479287 69479287 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 69479287 69479287 C T SNP P2RY4 ENST00000374519 human ensembl 70_37 -1 known missense c.188 p.R63H 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2U_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor - no_errors P2RY4 HGNC ENSG00000186912 21 13 38.24 15 0 0.00 P2RY4 5030 genome.wustl.edu 37 X 69479359 69479359 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 69479359 69479359 G A SNP P2RY4 ENST00000374519 human ensembl 70_37 -1 known missense c.116 p.P39L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor - no_errors P2RY4 HGNC ENSG00000186912 24 12 33.33 36 0 0.00 P2RY8 286530 genome.wustl.edu 37 X 1584687 1584687 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 1584687 1584687 G A SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known silent c.765 p.F255 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 45 20 30.30 79 0 0.00 P2RY8 286530 genome.wustl.edu 37 X 1585079 1585079 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 1585079 1585079 C T SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known missense c.373 p.V125I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 52 6 10.34 64 0 0.00 P2RY8 286530 genome.wustl.edu 37 X 1585319 1585319 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 1585319 1585319 G C SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known missense c.133 p.L45V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 35 23 39.66 90 0 0.00 P4HA2 8974 genome.wustl.edu 37 5 131545021 131545021 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 131545021 131545021 G C SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.713 p.P238R 0.997 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 68 44 39.29 78 0 0.00 P4HA2 8974 genome.wustl.edu 37 5 131553006 131553006 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 131553006 131553006 G A SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.215 p.S72L 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 30 16 34.78 68 0 0.00 P4HA2 8974 genome.wustl.edu 37 5 131554244 131554244 + Missense_Mutation SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 131554244 131554244 A T SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.76 p.S26T 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 64 25 28.09 73 0 0.00 P4HB 5034 genome.wustl.edu 37 17 79801944 79801944 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79801944 79801944 C T SNP P4HB ENST00000331483 human ensembl 70_37 -1 known missense c.1471 p.E491K 0.620 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 40 13 24.53 75 0 0.00 P4HB 5034 genome.wustl.edu 37 17 79801950 79801950 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79801950 79801950 C T SNP P4HB ENST00000331483 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.997 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 41 10 19.61 72 0 0.00 P4HTM 54681 genome.wustl.edu 37 3 49044174 49044174 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49044174 49044174 G A SNP P4HTM ENST00000343546 human ensembl 70_37 +1 known missense c.1526 p.R509H 0.092 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 47 16 25.40 49 0 0.00 P4HTM 54681 genome.wustl.edu 37 3 49044293 49044293 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49044293 49044293 G A SNP P4HTM ENST00000343546 human ensembl 70_37 +1 known missense c.1645 p.E549K 0.998 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 48 23 32.39 95 0 0.00 PA2G4 5036 genome.wustl.edu 37 12 56503680 56503680 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56503680 56503680 G C SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known missense c.590 p.G197A 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 33 16 32.65 58 0 0.00 PA2G4 5036 genome.wustl.edu 37 12 56504248 56504248 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 56504248 56504248 C G SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known nonsense c.695 p.S232* 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 46 8 14.81 71 0 0.00 PA2G4 5036 genome.wustl.edu 37 12 56504386 56504386 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56504386 56504386 C T SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known missense c.752 p.P251L 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 46 42 47.73 59 0 0.00 PAAF1 80227 genome.wustl.edu 37 11 73611423 73611423 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 73611423 73611423 G T SNP PAAF1 ENST00000310571 human ensembl 70_37 +1 known nonsense c.490 p.E164* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 26 33 55.93 63 0 0.00 PAAF1 80227 genome.wustl.edu 37 11 73627672 73627672 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 73627672 73627672 G A SNP PAAF1 ENST00000310571 human ensembl 70_37 +1 known missense c.902 p.G301E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 63 10 13.70 53 0 0.00 PABPC1L 80336 genome.wustl.edu 37 20 43547895 43547895 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 43547895 43547895 G A SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.715 p.E239K 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 21 3 12.50 29 0 0.00 PABPC1L 80336 genome.wustl.edu 37 20 43550254 43550254 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 43550254 43550254 G T SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.758 p.G253V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 40 5 11.11 29 0 0.00 PABPC1L 80336 genome.wustl.edu 37 20 43564065 43564065 + Missense_Mutation SNP G G T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 43564065 43564065 G T SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.1478 p.G493V 0.000 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 26 4 13.33 49 0 0.00 PABPC1L 80336 genome.wustl.edu 37 20 43565406 43565406 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 43565406 43565406 G C SNP PABPC1L ENST00000465761 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PABPC1L HGNC ENSG00000101104 56 12 17.65 42 0 0.00 PABPC3 5042 genome.wustl.edu 37 13 25670507 25670507 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 25670507 25670507 G A SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known silent c.171 p.V57 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 32 23 41.82 82 0 0.00 PABPC3 5042 genome.wustl.edu 37 13 25670978 25670978 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 13 25670978 25670978 C T SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known silent c.642 p.F214 0.992 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 31 6 16.22 59 0 0.00 PABPC3 5042 genome.wustl.edu 37 13 25671015 25671015 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25671015 25671015 A G SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.679 p.S227G 0.980 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 112 13 10.40 118 1 0.84 PABPC3 5042 genome.wustl.edu 37 13 25671027 25671027 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 25671027 25671027 A G SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.691 p.K231E 0.999 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 17 8 32.00 46 0 0.00 PABPC3 5042 genome.wustl.edu 37 13 25671651 25671651 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25671651 25671651 C T SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.1315 p.H439Y 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 221 70 24.05 338 0 0.00 PABPC3 5042 genome.wustl.edu 37 13 25671667 25671667 + Missense_Mutation SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 13 25671667 25671667 A T SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.1331 p.K444M 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 31 5 13.89 31 0 0.00 PABPC4 8761 genome.wustl.edu 37 1 40030878 40030878 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 40030878 40030878 T C SNP PABPC4 ENST00000372858 human ensembl 70_37 -1 known missense c.1145 p.Y382C 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 33 10 23.26 42 0 0.00 PABPC4 8761 genome.wustl.edu 37 1 40036806 40036806 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 40036806 40036806 G A SNP PABPC4 ENST00000529216 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PABPC4 HGNC ENSG00000090621 60 21 25.93 83 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90690684 90690684 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 90690684 90690684 G A SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known silent c.108 p.K36 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 41 29 41.43 58 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90690779 90690779 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 90690779 90690779 T C SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known missense c.203 p.F68S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 26 22 45.83 58 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90690906 90690906 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 90690906 90690906 C G SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known missense c.330 p.I110M 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 57 9 13.64 64 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90690973 90690973 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 90690973 90690973 C T SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known silent c.397 p.L133 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 79 19 19.39 118 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90691095 90691095 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 90691095 90691095 C T SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known silent c.519 p.R173 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 68 19 21.84 69 0 0.00 PABPC5 140886 genome.wustl.edu 37 X 90691628 90691628 + Missense_Mutation SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 90691628 90691628 T C SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known missense c.1052 p.F351S 0.998 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 38 5 11.63 50 0 0.00 PABPN1 8106 genome.wustl.edu 37 14 23793450 23793450 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23793450 23793450 C G SNP PABPN1 ENST00000216727 human ensembl 70_37 +1 known missense c.833 p.S278C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 26 10 27.78 28 0 0.00 PABPN1L 390748 genome.wustl.edu 37 16 88930774 88930774 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 88930774 88930774 C G SNP PABPN1L ENST00000427766 human ensembl 70_37 -1 known missense c.561 p.K187N 1.000 NULL NULL - no_errors PABPN1L HGNC ENSG00000205022 14 7 33.33 34 0 0.00 PACRGL 133015 genome.wustl.edu 37 4 20715122 20715122 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 4 20715122 20715122 G C SNP PACRGL ENST00000503585 human ensembl 70_37 +1 known missense c.569 p.G190A 0.998 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC ENSG00000163138 70 17 19.54 121 0 0.00 PACS1 55690 genome.wustl.edu 37 11 65977848 65977848 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 65977848 65977848 C A SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.460 p.L154I 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 8 8 50.00 44 0 0.00 PACS1 55690 genome.wustl.edu 37 11 65983654 65983654 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 65983654 65983654 C G SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.725 p.S242C 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 28 8 22.22 22 0 0.00 PACS1 55690 genome.wustl.edu 37 11 65984233 65984233 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65984233 65984233 C T SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.965 p.S322F 0.993 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 61 25 29.07 77 0 0.00 PACS2 23241 genome.wustl.edu 37 14 105848285 105848285 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 105848285 105848285 A G SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known missense c.1303 p.S435G 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 29 4 12.12 35 0 0.00 PACS2 23241 genome.wustl.edu 37 14 105848292 105848292 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 105848292 105848292 C T SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known missense c.1310 p.S437F 0.994 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 44 10 18.52 76 0 0.00 PACS2 23241 genome.wustl.edu 37 14 105848350 105848350 + Silent SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 105848350 105848350 C T SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known silent c.1368 p.N456 0.922 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 59 10 14.49 99 0 0.00 PACSIN2 11252 genome.wustl.edu 37 22 43289475 43289475 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 43289475 43289475 G T SNP PACSIN2 ENST00000263246 human ensembl 70_37 -1 known missense c.205 p.L69I 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 80 22 21.57 108 0 0.00 PACSIN3 29763 genome.wustl.edu 37 11 47200581 47200581 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 47200581 47200581 C T SNP PACSIN3 ENST00000298838 human ensembl 70_37 -1 known missense c.901 p.E301K 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 72 11 13.25 42 0 0.00 PACSIN3 29763 genome.wustl.edu 37 11 47204045 47204045 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 47204045 47204045 G A SNP PACSIN3 ENST00000298838 human ensembl 70_37 -1 known silent c.120 p.V40 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 48 34 41.46 43 0 0.00 PADI1 29943 genome.wustl.edu 37 1 17548870 17548870 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 17548870 17548870 A G SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known missense c.178 p.K60E 0.256 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 65 9 12.16 62 0 0.00 PADI1 29943 genome.wustl.edu 37 1 17559361 17559361 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 17559361 17559361 C T SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known silent c.1209 p.P403 0.525 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 101 15 12.93 72 0 0.00 PADI1 29943 genome.wustl.edu 37 1 17567243 17567243 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17567243 17567243 C T SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known silent c.1746 p.F582 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 19 17 47.22 38 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17394881 17394881 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 17394881 17394881 G A SNP PADI2 ENST00000466151 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PADI2 HGNC ENSG00000117115 3 5 62.50 8 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17395384 17395384 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17395384 17395384 C T SNP PADI2 ENST00000466151 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors PADI2 HGNC ENSG00000117115 9 5 35.71 16 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17396669 17396669 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 17396669 17396669 C T SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known missense c.1678 p.G560R 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 140 75 34.88 185 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17409138 17409138 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17409138 17409138 C T SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known missense c.1060 p.E354K 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 13 4 23.53 13 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17409144 17409144 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 17409144 17409144 C A SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known nonsense c.1054 p.E352* 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 13 5 27.78 12 0 0.00 PADI2 11240 genome.wustl.edu 37 1 17422424 17422424 + Nonsense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 17422424 17422424 C A SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known nonsense c.391 p.E131* 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 147 32 17.88 114 0 0.00 PADI3 51702 genome.wustl.edu 37 1 17596733 17596733 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 17596733 17596733 G A SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known missense c.658 p.E220K 0.068 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 64 18 21.95 67 0 0.00 PADI3 51702 genome.wustl.edu 37 1 17597379 17597379 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17597379 17597379 C T SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known silent c.837 p.F279 1.000 superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 26 9 25.71 29 0 0.00 PADI3 51702 genome.wustl.edu 37 1 17597449 17597449 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17597449 17597449 C G SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known missense c.907 p.L303V 0.993 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 31 10 24.39 33 0 0.00 PADI3 51702 genome.wustl.edu 37 1 17601261 17601261 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17601261 17601261 C T SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known silent c.1287 p.L429 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 26 5 16.13 29 0 0.00 PADI4 23569 genome.wustl.edu 37 1 17672565 17672565 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 17672565 17672565 G C SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known silent c.978 p.L326 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 27 9 25.00 30 0 0.00 PADI4 23569 genome.wustl.edu 37 1 17681089 17681089 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17681089 17681089 C T SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known missense c.1217 p.S406F 0.998 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 77 18 18.95 69 0 0.00 PADI4 23569 genome.wustl.edu 37 1 17681157 17681157 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17681157 17681157 C G SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known missense c.1285 p.L429V 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 49 20 28.99 48 0 0.00 PAF1 54623 genome.wustl.edu 37 19 39876993 39876993 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 39876993 39876993 C G SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1234 p.E412Q 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 112 24 17.52 115 1 0.86 PAF1 54623 genome.wustl.edu 37 19 39877206 39877206 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 39877206 39877206 G A SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 41 22 34.92 54 0 0.00 PAF1 54623 genome.wustl.edu 37 19 39877206 39877206 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 39877206 39877206 G A SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 56 12 17.65 28 0 0.00 PAF1 54623 genome.wustl.edu 37 19 39879479 39879479 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 39879479 39879479 C T SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known silent c.663 p.V221 0.839 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 49 23 31.94 76 0 0.00 PAF1 54623 genome.wustl.edu 37 19 39879801 39879801 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 39879801 39879801 C T SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.499 p.E167K 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 51 20 27.78 78 0 0.00 PAF1 54623 genome.wustl.edu 37 19 39880311 39880311 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 39880311 39880311 G C SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.261 p.I87M 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 81 34 29.57 89 0 0.00 PAFAH1B1 5048 genome.wustl.edu 37 17 2568719 2568719 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 2568719 2568719 C A SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known nonsense c.86 p.S29* 0.997 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pirsf_Dynein_regulator,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC ENSG00000007168 21 3 12.50 36 0 0.00 PAFAH1B1 5048 genome.wustl.edu 37 17 2570453 2570453 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 2570453 2570453 C T SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known silent c.360 p.F120 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC ENSG00000007168 10 20 66.67 45 0 0.00 PAFAH1B1 5048 genome.wustl.edu 37 17 2585020 2585020 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2585020 2585020 C T SNP PAFAH1B1 ENST00000574213 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 18 12 40.00 17 0 0.00 PAFAH1B1 5048 genome.wustl.edu 37 17 2585025 2585025 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 2585025 2585025 T G SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known missense c.1162 p.F388V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC ENSG00000007168 21 9 30.00 21 0 0.00 PAFAH1B2 5049 genome.wustl.edu 37 11 117038362 117038362 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 117038362 117038362 A T SNP PAFAH1B2 ENST00000527958 human ensembl 70_37 +1 known missense c.637 p.I213F 1.000 superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PAFAH1B2 HGNC ENSG00000168092 46 22 32.35 53 0 0.00 PAG1 55824 genome.wustl.edu 37 8 81883062 81883062 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 81883062 81883062 G A SNP PAG1 ENST00000523463 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PAG1 HGNC ENSG00000076641 22 19 46.34 55 0 0.00 PAG1 55824 genome.wustl.edu 37 8 81892678 81892678 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 81892678 81892678 C T SNP PAG1 ENST00000220597 human ensembl 70_37 -1 known missense c.928 p.E310K 1.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 52 31 37.35 108 0 0.00 PAG1 55824 genome.wustl.edu 37 8 81903729 81903729 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 81903729 81903729 C T SNP PAG1 ENST00000220597 human ensembl 70_37 -1 known silent c.162 p.E54 1.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 52 24 31.58 42 0 0.00 PAGE1 8712 genome.wustl.edu 37 X 49459350 49459350 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 49459350 49459350 G C SNP PAGE1 ENST00000376150 human ensembl 70_37 -1 known missense c.24 p.I8M 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE1 HGNC ENSG00000068985 87 43 33.08 103 0 0.00 PAGE2B 389860 genome.wustl.edu 37 X 55102509 55102509 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 55102509 55102509 C T SNP PAGE2B ENST00000374971 human ensembl 70_37 +1 known missense c.35 p.S12L 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE2B HGNC ENSG00000238269 48 31 39.24 86 0 0.00 PAGE4 9506 genome.wustl.edu 37 X 49597149 49597149 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 X 49597149 49597149 G T SNP PAGE4 ENST00000218068 human ensembl 70_37 +1 known missense c.188 p.C63F 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE4 HGNC ENSG00000101951 101 47 31.76 131 0 0.00 PAGR1 79447 genome.wustl.edu 37 16 29828234 29828234 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 29828234 29828234 G A SNP PAGR1 ENST00000320330 human ensembl 70_37 +1 known missense c.388 p.E130K 0.885 NULL NULL - no_errors PAGR1 HGNC ENSG00000185928 21 4 16.00 37 0 0.00 PAH 5053 genome.wustl.edu 37 12 103249048 103249048 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 103249048 103249048 A C SNP PAH ENST00000553106 human ensembl 70_37 -1 known missense c.572 p.F191C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 34 13 27.66 64 0 0.00 PAH 5053 genome.wustl.edu 37 12 103288558 103288559 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 103288558 103288559 - A INS PAH ENST00000553106 human ensembl 70_37 -1 known frame_shift_ins c.307_306 p.G102fs 1.000:0.982 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 33 9 21.43 61 0 0.00 PAICS 10606 genome.wustl.edu 37 4 57312951 57312951 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57312951 57312951 G A SNP PAICS ENST00000264221 human ensembl 70_37 +1 known missense c.305 p.R102K 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 11 8 42.11 15 0 0.00 PAIP1 10605 genome.wustl.edu 37 5 43527498 43527498 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 43527498 43527498 C T SNP PAIP1 ENST00000306846 human ensembl 70_37 -1 known missense c.1420 p.E474K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 43 16 27.12 78 0 0.00 PAIP2B 400961 genome.wustl.edu 37 2 71417103 71417103 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 71417103 71417103 C G SNP PAIP2B ENST00000244221 human ensembl 70_37 -1 known missense c.187 p.E63Q 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2B HGNC ENSG00000124374 17 15 46.88 30 0 0.00 PAK1 5058 genome.wustl.edu 37 11 77043794 77043794 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 77043794 77043794 G A SNP PAK1 ENST00000278568 human ensembl 70_37 -1 known missense c.1532 p.S511L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK1 HGNC ENSG00000149269 38 30 44.12 137 0 0.00 PAK1 5058 genome.wustl.edu 37 11 77090969 77090969 + Silent SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 11 77090969 77090969 G A SNP PAK1 ENST00000278568 human ensembl 70_37 -1 known silent c.261 p.V87 1.000 pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK1 HGNC ENSG00000149269 18 6 25.00 52 0 0.00 PAK2 5062 genome.wustl.edu 37 3 196528862 196528862 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196528862 196528862 C T SNP PAK2 ENST00000327134 human ensembl 70_37 +1 known silent c.252 p.I84 0.996 pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK2 HGNC ENSG00000180370 46 22 32.35 33 0 0.00 PAK2 5062 genome.wustl.edu 37 3 196532222 196532222 + Splice_Site SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 196532222 196532222 G A SNP PAK2 ENST00000327134 human ensembl 70_37 +1 known splice_site c.437-1 e4-1 1.000 - - - no_errors PAK2 HGNC ENSG00000180370 114 28 19.72 152 0 0.00 PAK3 5063 genome.wustl.edu 37 X 110406215 110406215 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 110406215 110406215 G C SNP PAK3 ENST00000360648 human ensembl 70_37 +1 known missense c.649 p.E217Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC ENSG00000077264 187 68 26.67 146 0 0.00 PAK4 10298 genome.wustl.edu 37 19 39663791 39663791 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39663791 39663791 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known silent c.438 p.G146 0.021 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 19 3 13.64 11 0 0.00 PAK4 10298 genome.wustl.edu 37 19 39664289 39664289 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39664289 39664289 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known missense c.737 p.S246F 0.992 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 19 10 34.48 32 0 0.00 PAK4 10298 genome.wustl.edu 37 19 39664313 39664313 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 39664313 39664313 G A SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known missense c.761 p.R254Q 0.049 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 16 3 15.79 25 0 0.00 PAK4 10298 genome.wustl.edu 37 19 39666057 39666057 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 39666057 39666057 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known silent c.1338 p.I446 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 23 23 50.00 50 0 0.00 PAK6 56924 genome.wustl.edu 37 15 40558568 40558568 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 15 40558568 40558568 G A SNP PAK6 ENST00000260404 human ensembl 70_37 +1 known missense c.730 p.E244K 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 27 6 18.18 34 0 0.00 PAK6 56924 genome.wustl.edu 37 15 40565662 40565662 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 40565662 40565662 C T SNP PAK6 ENST00000260404 human ensembl 70_37 +1 known missense c.1606 p.L536F 0.015 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 46 19 29.23 46 0 0.00 PAK6 56924 genome.wustl.edu 37 15 40568273 40568273 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40568273 40568273 G A SNP PAK6 ENST00000260404 human ensembl 70_37 +1 known missense c.2024 p.R675Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 31 24 43.64 65 0 0.00 PAK7 57144 genome.wustl.edu 37 20 9543638 9543638 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 9543638 9543638 C A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known missense c.1516 p.V506L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 40 30 42.86 63 0 0.00 PAK7 57144 genome.wustl.edu 37 20 9546627 9546627 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 20 9546627 9546627 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known silent c.1395 p.I465 0.994 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 61 34 35.42 220 0 0.00 PAK7 57144 genome.wustl.edu 37 20 9546832 9546832 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 20 9546832 9546832 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known missense c.1190 p.T397M 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 42 8 16.00 68 0 0.00 PAK7 57144 genome.wustl.edu 37 20 9561029 9561029 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 9561029 9561029 C T SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known silent c.753 p.A251 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 68 8 10.53 48 0 0.00 PAK7 57144 genome.wustl.edu 37 20 9561269 9561269 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 9561269 9561269 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known silent c.513 p.H171 0.021 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 68 41 37.61 90 0 0.00 PALB2 79728 genome.wustl.edu 37 16 23619253 23619253 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 23619253 23619253 C G SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known silent c.3282 p.V1094 0.088 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 27 16 37.21 37 0 0.00 PALB2 79728 genome.wustl.edu 37 16 23634403 23634403 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 23634403 23634403 C T SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known silent c.2883 p.L961 0.897 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 44 14 24.14 61 0 0.00 PALB2 79728 genome.wustl.edu 37 16 23641068 23641068 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 23641068 23641068 C T SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known missense c.2407 p.D803N 0.042 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 57 36 38.71 94 0 0.00 PALB2 79728 genome.wustl.edu 37 16 23647106 23647106 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 23647106 23647106 G C SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known nonsense c.761 p.S254* 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 47 22 31.88 67 0 0.00 PALD1 27143 genome.wustl.edu 37 10 72293705 72293705 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 72293705 72293705 G C SNP PALD1 ENST00000263563 human ensembl 70_37 +1 known missense c.898 p.D300H 0.008 smart_Tyr_Pase_cat smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 26 19 41.30 40 0 0.00 PALD1 27143 genome.wustl.edu 37 10 72298040 72298040 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 72298040 72298040 C T SNP PALD1 ENST00000263563 human ensembl 70_37 +1 known missense c.1328 p.P443L 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 36 30 45.45 87 0 0.00 PALLD 23022 genome.wustl.edu 37 4 169433387 169433387 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 169433387 169433387 G A SNP PALLD ENST00000261509 human ensembl 70_37 +1 known silent c.732 p.Q244 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 51 25 32.89 98 0 0.00 PALLD 23022 genome.wustl.edu 37 4 169819769 169819769 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 169819769 169819769 G T SNP PALLD ENST00000261509 human ensembl 70_37 +1 known missense c.2325 p.M775I 0.441 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 33 4 10.81 67 0 0.00 PALLD 23022 genome.wustl.edu 37 4 169837137 169837137 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 169837137 169837137 C G SNP PALLD ENST00000261509 human ensembl 70_37 +1 known missense c.2758 p.L920V 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 19 11 36.67 38 0 0.00 PALM 5064 genome.wustl.edu 37 19 726146 726146 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 726146 726146 C T SNP PALM ENST00000338448 human ensembl 70_37 +1 known missense c.14 p.A5V 0.012 NULL pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 60 12 16.67 82 0 0.00 PALM 5064 genome.wustl.edu 37 19 727627 727627 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 727627 727627 G A SNP PALM ENST00000338448 human ensembl 70_37 +1 known missense c.202 p.E68K 0.986 NULL pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 38 7 15.56 55 0 0.00 PALM 5064 genome.wustl.edu 37 19 727657 727657 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 727657 727657 G A SNP PALM ENST00000338448 human ensembl 70_37 +1 known missense c.232 p.E78K 0.999 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 19 5 20.83 23 0 0.00 PALM 5064 genome.wustl.edu 37 19 736029 736029 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 736029 736029 C G SNP PALM ENST00000338448 human ensembl 70_37 +1 known silent c.453 p.V151 0.046 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 52 39 42.86 75 0 0.00 PALM 5064 genome.wustl.edu 37 19 736065 736065 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 736065 736065 C T SNP PALM ENST00000338448 human ensembl 70_37 +1 known silent c.489 p.P163 0.852 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 33 22 40.00 84 0 0.00 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112898781 112898781 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 112898781 112898781 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known silent c.957 p.G319 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 28 4 12.50 34 0 0.00 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899137 112899137 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 112899137 112899137 G C SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.1313 p.R438T 0.132 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 20 6 23.08 17 0 0.00 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899283 112899283 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 9 112899283 112899283 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.1459 p.E487K 0.926 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 12 8 40.00 24 0 0.00 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899896 112899896 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 112899896 112899896 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.2072 p.R691K 0.012 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 20 8 28.57 33 0 0.00 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112900327 112900327 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 112900327 112900327 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.2503 p.E835K 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 17 14 45.16 32 0 0.00 PALM3 342979 genome.wustl.edu 37 19 14165745 14165745 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 14165745 14165745 C T SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.694 p.A232T 0.571 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 25 19 43.18 34 0 0.00 PALM3 342979 genome.wustl.edu 37 19 14165969 14165969 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14165969 14165969 G C SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.470 p.S157C 0.001 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 26 21 44.68 35 0 0.00 PALM3 342979 genome.wustl.edu 37 19 14167476 14167476 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 14167476 14167476 G C SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.267 p.F89L 1.000 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 48 22 31.43 88 0 0.00 PALMD 54873 genome.wustl.edu 37 1 100152712 100152712 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 100152712 100152712 G A SNP PALMD ENST00000263174 human ensembl 70_37 +1 known missense c.481 p.E161K 0.997 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 25 8 24.24 16 0 0.00 PALMD 54873 genome.wustl.edu 37 1 100154591 100154591 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 100154591 100154591 G C SNP PALMD ENST00000263174 human ensembl 70_37 +1 known missense c.775 p.E259Q 1.000 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 18 16 47.06 39 0 0.00 PAM 5066 genome.wustl.edu 37 5 102262314 102262314 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 102262314 102262314 G A SNP PAM ENST00000345721 human ensembl 70_37 +1 known missense c.410 p.R137K 0.996 NULL NULL - no_errors PAM HGNC ENSG00000145730 229 47 16.91 254 0 0.00 PAM 5066 genome.wustl.edu 37 5 102309832 102309832 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 102309832 102309832 C T SNP PAM ENST00000304400 human ensembl 70_37 +1 known missense c.1175 p.S392L 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 17 10 37.04 18 0 0.00 PAMR1 25891 genome.wustl.edu 37 11 35454018 35454018 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 35454018 35454018 C T SNP PAMR1 ENST00000278360 human ensembl 70_37 -1 known nonsense c.2100 p.W700* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 13 3 18.75 38 0 0.00 PAMR1 25891 genome.wustl.edu 37 11 35454134 35454134 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 35454134 35454134 C T SNP PAMR1 ENST00000278360 human ensembl 70_37 -1 known missense c.1984 p.D662N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 21 11 34.38 29 0 0.00 PAMR1 25891 genome.wustl.edu 37 11 35492237 35492237 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 35492237 35492237 C G SNP PAMR1 ENST00000278360 human ensembl 70_37 -1 known missense c.624 p.Q208H 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 27 21 43.75 50 0 0.00 PAN2 9924 genome.wustl.edu 37 12 56718400 56718400 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56718400 56718400 G A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.1693 p.H565Y 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 53 17 24.29 56 0 0.00 PAN2 9924 genome.wustl.edu 37 12 56720435 56720435 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 56720435 56720435 C A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.1228 p.D410Y 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 30 4 11.76 26 0 0.00 PAN2 9924 genome.wustl.edu 37 12 56722356 56722356 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 56722356 56722356 C T SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 26 8 23.53 20 0 0.00 PAN2 9924 genome.wustl.edu 37 12 56726779 56726779 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 56726779 56726779 G A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known silent c.100 p.L34 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 45 12 20.69 81 0 0.00 PAN3 255967 genome.wustl.edu 37 13 28794441 28794441 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 28794441 28794441 C G SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known nonsense c.926 p.S309* 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 57 12 17.39 76 0 0.00 PAN3 255967 genome.wustl.edu 37 13 28834689 28834689 + Splice_Site SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 28834689 28834689 G T SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known splice_site c.1353+1 e8+1 1.000 - - - no_errors PAN3 HGNC ENSG00000152520 31 4 11.43 33 0 0.00 PAN3 255967 genome.wustl.edu 37 13 28841480 28841480 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 28841480 28841480 G A SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.1734 p.M578I 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 120 30 20.00 85 0 0.00 PAN3 255967 genome.wustl.edu 37 13 28854578 28854578 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 28854578 28854578 G A SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.2219 p.R740Q 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 9 7 43.75 41 0 0.00 PAN3 255967 genome.wustl.edu 37 13 28866556 28866556 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 28866556 28866556 C T SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.2561 p.S854F 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 88 13 12.87 124 0 0.00 PAN3-AS1 100288730 genome.wustl.edu 37 13 28710999 28711000 + RNA INS - - A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 13 28710999 28711000 - A INS PAN3-AS1 ENST00000563843 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.039 - - - no_errors PAN3-AS1 HGNC ENSG00000261485 69 41 37.27 39 0 0.00 PANK1 53354 genome.wustl.edu 37 10 91359024 91359024 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 91359024 91359024 C G SNP PANK1 ENST00000307534 human ensembl 70_37 -1 known missense c.1295 p.R432T 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 76 28 26.92 93 0 0.00 PANK1 53354 genome.wustl.edu 37 10 91404972 91404972 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 91404972 91404972 C G SNP PANK1 ENST00000307534 human ensembl 70_37 -1 known missense c.88 p.E30Q 1.000 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 2 6 75.00 9 0 0.00 PANK2 80025 genome.wustl.edu 37 20 3904042 3904042 + RNA SNP A A T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 3904042 3904042 A T SNP PANK2 ENST00000336066 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PANK2 HGNC ENSG00000125779 7 9 56.25 19 0 0.00 PANK2 80025 genome.wustl.edu 37 20 3904080 3904080 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3904080 3904080 C T SNP PANK2 ENST00000336066 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors PANK2 HGNC ENSG00000125779 15 8 34.78 19 0 0.00 PANK3 79646 genome.wustl.edu 37 5 167990942 167990942 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 167990942 167990942 C T SNP PANK3 ENST00000239231 human ensembl 70_37 -1 known missense c.764 p.G255E 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 25 11 30.56 52 0 0.00 PANK3 79646 genome.wustl.edu 37 5 167995799 167995799 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167995799 167995799 C T SNP PANK3 ENST00000239231 human ensembl 70_37 -1 known missense c.233 p.R78Q 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 155 36 18.85 174 0 0.00 PANK4 55229 genome.wustl.edu 37 1 2445807 2445807 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2445807 2445807 C T SNP PANK4 ENST00000378466 human ensembl 70_37 -1 known silent c.1473 p.L491 0.031 superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 108 15 12.20 127 0 0.00 PANK4 55229 genome.wustl.edu 37 1 2446787 2446787 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 2446787 2446787 C T SNP PANK4 ENST00000468002 human ensembl 70_37 -1 known silent c.546 p.A182 0.001 NULL pfam_Type_II_PanK,superfamily_DUF89 - no_errors PANK4 HGNC ENSG00000157881 6 5 45.45 11 0 0.00 PANK4 55229 genome.wustl.edu 37 1 2447098 2447100 + In_Frame_Del DEL AGG AGG - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 2447098 2447100 AGG - DEL PANK4 ENST00000378466 human ensembl 70_37 -1 known in_frame_del c.1277_1275 p.L426in_frame_del 0.995:1.000:1.000 superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 51 6 10.53 64 0 0.00 PANK4 55229 genome.wustl.edu 37 1 2453349 2453349 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2453349 2453349 G A SNP PANK4 ENST00000502770 human ensembl 70_37 -1 known silent c.156 p.L52 0.000 NULL NULL - no_errors PANK4 HGNC ENSG00000157881 21 6 22.22 22 0 0.00 PANX2 56666 genome.wustl.edu 37 22 50615649 50615649 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 50615649 50615649 G C SNP PANX2 ENST00000395842 human ensembl 70_37 +1 known missense c.508 p.E170Q 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 34 23 40.35 37 0 0.00 PANX2 56666 genome.wustl.edu 37 22 50615963 50615963 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 50615963 50615963 G A SNP PANX2 ENST00000395842 human ensembl 70_37 +1 known silent c.822 p.A274 0.358 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 19 12 38.71 29 0 0.00 PANX2 56666 genome.wustl.edu 37 22 50615969 50615969 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 50615969 50615969 C T SNP PANX2 ENST00000395842 human ensembl 70_37 +1 known silent c.828 p.R276 0.987 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 76 31 28.97 33 0 0.00 PANX3 116337 genome.wustl.edu 37 11 124481634 124481634 + Splice_Site SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 124481634 124481634 G T SNP PANX3 ENST00000284288 human ensembl 70_37 +1 known splice_site c.181+1 e1+1 1.000 - - - no_errors PANX3 HGNC ENSG00000154143 31 4 11.43 80 0 0.00 PANX3 116337 genome.wustl.edu 37 11 124489214 124489214 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 11 124489214 124489214 G A SNP PANX3 ENST00000284288 human ensembl 70_37 +1 known missense c.562 p.E188K 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 19 25 56.82 55 0 0.00 PAOX 196743 genome.wustl.edu 37 10 135193640 135193640 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 10 135193640 135193640 C T SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.319 p.H107Y 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 38 11 22.45 25 0 0.00 PAOX 196743 genome.wustl.edu 37 10 135193640 135193640 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 135193640 135193640 C T SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.319 p.H107Y 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 67 24 26.37 102 0 0.00 PAOX 196743 genome.wustl.edu 37 10 135195106 135195106 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 135195106 135195106 G C SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.811 p.E271Q 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 36 10 21.74 24 0 0.00 PAOX 196743 genome.wustl.edu 37 10 135195106 135195106 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 135195106 135195106 G C SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.811 p.E271Q 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 50 18 26.09 61 0 0.00 PAPD4 167153 genome.wustl.edu 37 5 78975427 78975427 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 78975427 78975427 C T SNP PAPD4 ENST00000296783 human ensembl 70_37 +1 known missense c.1234 p.R412C 1.000 pfam_PAP_assoc pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 27 15 35.71 62 0 0.00 PAPD5 64282 genome.wustl.edu 37 16 50265073 50265073 + RNA SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 50265073 50265073 G T SNP PAPD5 ENST00000573002 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors PAPD5 HGNC ENSG00000121274 25 3 10.71 33 0 0.00 PAPD7 11044 genome.wustl.edu 37 5 6749688 6749688 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 6749688 6749688 C G SNP PAPD7 ENST00000230859 human ensembl 70_37 +1 known missense c.855 p.I285M 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 69 13 15.85 70 0 0.00 PAPL 390928 genome.wustl.edu 37 19 39575922 39575922 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 39575922 39575922 C T SNP PAPL ENST00000331256 human ensembl 70_37 +1 known missense c.13 p.P5S 0.000 NULL pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_genename ENSG00000183760 7 9 56.25 35 0 0.00 PAPL 390928 genome.wustl.edu 37 19 39575960 39575960 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 39575960 39575960 C G SNP PAPL ENST00000331256 human ensembl 70_37 +1 known missense c.51 p.F17L 0.003 superfamily_Purple_acid_Pase-like_N pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_genename ENSG00000183760 47 9 16.07 53 0 0.00 PAPLN 89932 genome.wustl.edu 37 14 73719422 73719422 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 14 73719422 73719422 C T SNP PAPLN ENST00000427855 human ensembl 70_37 +1 known missense c.1033 p.R345C 0.496 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 40 8 16.67 49 0 0.00 PAPLN 89932 genome.wustl.edu 37 14 73733225 73733225 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 73733225 73733225 G A SNP PAPLN ENST00000427855 human ensembl 70_37 +1 known missense c.3280 p.D1094N 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 71 8 10.00 94 0 0.00 PAPOLA 10914 genome.wustl.edu 37 14 97009200 97009200 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 97009200 97009200 C G SNP PAPOLA ENST00000216277 human ensembl 70_37 +1 known nonsense c.1259 p.S420* 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 41 21 32.81 48 0 0.00 PAPOLB 56903 genome.wustl.edu 37 7 4901303 4901303 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 4901303 4901303 G A SNP PAPOLB ENST00000404991 human ensembl 70_37 -1 known missense c.136 p.L46F 0.962 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 25 7 21.21 44 0 0.00 PAPOLB 56903 genome.wustl.edu 37 7 4901303 4901303 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 4901303 4901303 G A SNP PAPOLB ENST00000404991 human ensembl 70_37 -1 known missense c.136 p.L46F 0.962 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 26 18 40.91 30 0 0.00 PAPOLG 64895 genome.wustl.edu 37 2 61018955 61018955 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 61018955 61018955 C G SNP PAPOLG ENST00000238714 human ensembl 70_37 +1 known missense c.1456 p.H486D 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 23 14 37.84 42 0 0.00 PAPOLG 64895 genome.wustl.edu 37 2 61018984 61018984 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 61018984 61018984 C T SNP PAPOLG ENST00000238714 human ensembl 70_37 +1 known silent c.1485 p.Y495 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 13 14 51.85 39 0 0.00 PAPPA 5069 genome.wustl.edu 37 9 118997560 118997560 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 118997560 118997560 C T SNP PAPPA ENST00000328252 human ensembl 70_37 +1 known silent c.2376 p.V792 0.878 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 29 29 50.00 80 0 0.00 PAPPA 5069 genome.wustl.edu 37 9 119094720 119094720 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 119094720 119094720 G A SNP PAPPA ENST00000328252 human ensembl 70_37 +1 known missense c.3370 p.D1124N 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 49 16 24.24 50 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176525551 176525551 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 176525551 176525551 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known silent c.93 p.K31 0.463 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 45 23 33.82 71 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176525786 176525786 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176525786 176525786 G C SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.328 p.D110H 0.001 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 391 86 18.03 387 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176564181 176564181 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 176564181 176564181 C T SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.1441 p.L481F 0.409 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 27 34 55.74 37 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176564676 176564676 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 176564676 176564676 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.1936 p.D646N 0.998 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 18 13 41.94 66 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176664908 176664908 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176664908 176664908 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.2659 p.D887N 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 229 56 19.65 177 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176671814 176671814 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176671814 176671814 C T SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.3308 p.S1103L 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 106 12 10.17 112 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176758970 176758970 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 176758970 176758970 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.4741 p.E1581K 0.999 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 33 6 15.38 33 0 0.00 PAPPA2 60676 genome.wustl.edu 37 1 176762738 176762738 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 176762738 176762738 C G SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.5063 p.P1688R 0.728 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 70 15 17.65 84 0 0.00 PAPSS1 9061 genome.wustl.edu 37 4 108615047 108615047 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 108615047 108615047 T G SNP PAPSS1 ENST00000265174 human ensembl 70_37 -1 known missense c.291 p.K97N 0.836 pfam_APS_kinase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 10 9 47.37 34 0 0.00 PAPSS1 9061 genome.wustl.edu 37 4 108641220 108641220 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 108641220 108641220 G C SNP PAPSS1 ENST00000504987 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PAPSS1 HGNC ENSG00000138801 13 5 27.78 24 0 0.00 PAPSS2 9060 genome.wustl.edu 37 10 89419750 89419750 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 89419750 89419750 C G SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known missense c.12 p.I4M 0.965 NULL pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 3 7 70.00 20 0 0.00 PAPSS2 9060 genome.wustl.edu 37 10 89473852 89473852 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 89473852 89473852 G C SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 pfam_APS_kinase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 11 7 38.89 22 0 0.00 PAPSS2 9060 genome.wustl.edu 37 10 89503210 89503210 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 89503210 89503210 C T SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known silent c.1303 p.L435 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 25 4 13.79 42 0 0.00 PAQR5 54852 genome.wustl.edu 37 15 69652359 69652359 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 69652359 69652359 G C SNP PAQR5 ENST00000561027 human ensembl 70_37 +1 known rna NULL NULL 0.218 - - - no_errors PAQR5 HGNC ENSG00000137819 31 8 20.51 60 0 0.00 PAQR6 79957 genome.wustl.edu 37 1 156214007 156214007 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156214007 156214007 G A SNP PAQR6 ENST00000335852 human ensembl 70_37 -1 known missense c.701 p.S234L 1.000 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 19 7 26.92 23 0 0.00 PAQR8 85315 genome.wustl.edu 37 6 52268056 52268056 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 52268056 52268056 C T SNP PAQR8 ENST00000360726 human ensembl 70_37 +1 known silent c.45 p.S15 0.850 NULL pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 15 6 28.57 32 0 0.00 PAQR9 344838 genome.wustl.edu 37 3 142681903 142681903 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142681903 142681903 G A SNP PAQR9 ENST00000340634 human ensembl 70_37 -1 known silent c.276 p.I92 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 102 28 21.37 52 0 0.00 PAQR9 344838 genome.wustl.edu 37 3 142681918 142681918 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142681918 142681918 G A SNP PAQR9 ENST00000340634 human ensembl 70_37 -1 known silent c.261 p.F87 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 106 27 20.30 46 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34400467 34400467 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 34400467 34400467 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.3701 p.S1234L 0.995 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 52 11 17.46 52 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34558760 34558760 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 34558760 34558760 C G SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.3253 p.D1085H 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 50 35 41.18 103 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34606252 34606252 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 34606252 34606252 C T SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2857 p.E953K 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 19 11 36.67 31 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34620159 34620159 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 34620159 34620159 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2728 p.R910C 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 38 12 24.00 51 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34626313 34626313 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 34626313 34626313 C T SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2459 p.R820Q 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 13 9 40.91 31 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34649003 34649003 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 34649003 34649003 G C SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.1892 p.S631C 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 13 26 66.67 29 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34739377 34739377 + Splice_Site SNP C C G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 10 34739377 34739377 C G SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known splice_site c.583-1 e5-1 1.000 - - - no_errors PARD3 HGNC ENSG00000148498 33 5 13.16 76 0 0.00 PARD3 56288 genome.wustl.edu 37 10 34805961 34805961 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 34805961 34805961 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known nonsense c.349 p.Q117* 1.000 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 53 19 26.39 73 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 205983657 205983657 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 205983657 205983657 C G SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known silent c.693 p.L231 0.995 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 50 15 23.08 41 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206023452 206023452 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 206023452 206023452 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.1441 p.E481K 1.000 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 58 19 24.68 51 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206036980 206036980 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 206036980 206036980 G T SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known nonsense c.1666 p.E556* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 26 4 12.90 66 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206165403 206165403 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 206165403 206165403 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2335 p.E779K 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 44 29 39.73 43 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206166584 206166584 + RNA SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 206166584 206166584 G C SNP PARD3B ENST00000462231 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PARD3B HGNC ENSG00000116117 9 8 47.06 26 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206265749 206265749 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 206265749 206265749 G T SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2643 p.K881N 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 27 13 32.50 34 0 0.00 PARD3B 117583 genome.wustl.edu 37 2 206265774 206265774 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 206265774 206265774 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2668 p.E890K 0.964 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 0 29 100.00 59 0 0.00 PARD6A 50855 genome.wustl.edu 37 16 67696338 67696338 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 67696338 67696338 G C SNP PARD6A ENST00000219255 human ensembl 70_37 +1 known missense c.829 p.D277H 0.995 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6A HGNC ENSG00000102981 54 21 28.00 90 0 0.00 PARD6B 84612 genome.wustl.edu 37 20 49366649 49366649 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 49366649 49366649 C T SNP PARD6B ENST00000371610 human ensembl 70_37 +1 known missense c.743 p.P248L 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 16 11 40.74 20 0 0.00 PARD6B 84612 genome.wustl.edu 37 20 49366912 49366912 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49366912 49366912 C T SNP PARD6B ENST00000371610 human ensembl 70_37 +1 known missense c.1006 p.P336S 0.977 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 13 10 43.48 30 0 0.00 PARD6G 84552 genome.wustl.edu 37 18 77917738 77917738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77917738 77917738 G A SNP PARD6G ENST00000353265 human ensembl 70_37 -1 known silent c.1047 p.L349 1.000 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 17 7 29.17 18 0 0.00 PARD6G 84552 genome.wustl.edu 37 18 77918347 77918347 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 77918347 77918347 G A SNP PARD6G ENST00000353265 human ensembl 70_37 -1 known silent c.438 p.I146 1.000 superfamily_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 53 25 32.05 49 0 0.00 PARK2 5071 genome.wustl.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 161969941 161969941 G A SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known missense c.1028 p.P343L 0.972 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr - no_errors PARK2 HGNC ENSG00000185345 53 43 44.79 115 0 0.00 PARK2 5071 genome.wustl.edu 37 6 162683699 162683699 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 162683699 162683699 G A SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known silent c.270 p.N90 0.000 pirsf_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr - no_errors PARK2 HGNC ENSG00000185345 13 11 45.83 44 0 0.00 PARK2 5071 genome.wustl.edu 37 6 162864488 162864488 + Missense_Mutation SNP A A C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 6 162864488 162864488 A C SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known missense c.25 p.S9A 1.000 pfam_SUMO,smart_Ubiquitin,pirsf_Parkin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr - no_errors PARK2 HGNC ENSG00000185345 14 41 74.55 64 0 0.00 PARK7 11315 genome.wustl.edu 37 1 8030977 8030977 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 8030977 8030977 G A SNP PARK7 ENST00000338639 human ensembl 70_37 +1 known silent c.276 p.L92 1.000 pfam_ThiJ/PfpI,tigrfam_DJ1 pfam_ThiJ/PfpI,tigrfam_DJ1 - no_errors PARK7 HGNC ENSG00000116288 37 6 13.95 76 0 0.00 PARL 55486 genome.wustl.edu 37 3 183585786 183585786 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 183585786 183585786 C T SNP PARL ENST00000317096 human ensembl 70_37 -1 known missense c.188 p.R63Q 1.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 64 8 10.96 87 0 0.00 PARN 5073 genome.wustl.edu 37 16 14540804 14540804 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 14540804 14540804 G A SNP PARN ENST00000437198 human ensembl 70_37 -1 known missense c.1805 p.S602L 1.000 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 106 17 13.71 133 0 0.00 PARP1 142 genome.wustl.edu 37 1 226549886 226549886 + RNA DEL T T - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 226549886 226549886 T - DEL PARP1 ENST00000491816 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors PARP1 HGNC ENSG00000143799 45 5 10.00 32 0 0.00 PARP1 142 genome.wustl.edu 37 1 226551836 226551836 + RNA SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 226551836 226551836 G A SNP PARP1 ENST00000463968 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PARP1 HGNC ENSG00000143799 33 7 17.50 33 0 0.00 PARP1 142 genome.wustl.edu 37 1 226561959 226561959 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226561959 226561959 C G SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known missense c.2038 p.E680Q 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 72 20 21.74 51 0 0.00 PARP1 142 genome.wustl.edu 37 1 226578157 226578157 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 226578157 226578157 C G SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known missense c.571 p.D191H 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 94 13 12.04 111 0 0.00 PARP1 142 genome.wustl.edu 37 1 226589952 226589952 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 226589952 226589952 C T SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known silent c.249 p.Q83 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 27 13 32.50 23 0 0.00 PARP10 84875 genome.wustl.edu 37 8 145051698 145051698 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145051698 145051698 G A SNP PARP10 ENST00000313028 human ensembl 70_37 -1 known missense c.3032 p.S1011F 0.295 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 5 6 54.55 13 0 0.00 PARP11 57097 genome.wustl.edu 37 12 3921552 3921552 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 3921552 3921552 T C SNP PARP11 ENST00000228820 human ensembl 70_37 -1 known missense c.754 p.I252V 0.998 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 14 3 17.65 20 0 0.00 PARP11 57097 genome.wustl.edu 37 12 3939163 3939163 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 3939163 3939163 C A SNP PARP11 ENST00000228820 human ensembl 70_37 -1 known nonsense c.40 p.E14* 0.993 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 20 19 48.72 74 0 0.00 PARP12 64761 genome.wustl.edu 37 7 139726044 139726044 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 139726044 139726044 T A SNP PARP12 ENST00000263549 human ensembl 70_37 -1 known missense c.1733 p.N578I 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 55 11 16.67 98 0 0.00 PARP12 64761 genome.wustl.edu 37 7 139734130 139734130 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 139734130 139734130 G T SNP PARP12 ENST00000473341 human ensembl 70_37 -1 known missense c.1184 p.P395H 0.278 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom - no_errors PARP12 HGNC ENSG00000059378 36 4 10.00 50 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122399840 122399840 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122399840 122399840 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.110 p.S37L 0.529 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 34 7 16.67 40 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122418266 122418266 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 122418266 122418266 G A SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.865 p.D289N 0.000 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 47 15 24.19 73 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122418737 122418737 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 122418737 122418737 G A SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.1336 p.E446K 0.204 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 19 18 48.65 18 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122418794 122418794 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 122418794 122418794 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.1393 p.Q465* 0.108 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 18 3 14.29 29 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122432391 122432391 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 122432391 122432391 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.3740 p.S1247* 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 74 24 24.49 106 1 0.93 PARP14 54625 genome.wustl.edu 37 3 122432403 122432403 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 122432403 122432403 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.3752 p.S1251L 0.980 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 25 8 24.24 41 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122432725 122432725 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 122432725 122432725 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.3776 p.S1259C 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 38 16 29.63 59 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122437682 122437682 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 122437682 122437682 G C SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.4684 p.E1562Q 0.000 pfam_WWE-dom,pfscan_WWE-dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 18 7 28.00 26 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122439176 122439176 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 122439176 122439176 G C SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.4882 p.E1628Q 0.981 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 34 14 29.17 32 0 0.00 PARP14 54625 genome.wustl.edu 37 3 122447317 122447317 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122447317 122447317 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.5279 p.S1760* 0.014 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 75 14 15.73 36 0 0.00 PARP15 165631 genome.wustl.edu 37 3 122345698 122345698 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 122345698 122345698 C A SNP PARP15 ENST00000464300 human ensembl 70_37 +1 known missense c.1256 p.T419K 0.000 smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 24 4 14.29 30 0 0.00 PARP16 54956 genome.wustl.edu 37 15 65558985 65558985 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 65558985 65558985 C A SNP PARP16 ENST00000261888 human ensembl 70_37 -1 known missense c.434 p.R145L 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 54 19 26.03 74 0 0.00 PARP2 10038 genome.wustl.edu 37 14 20815064 20815064 + Silent SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 14 20815064 20815064 C T SNP PARP2 ENST00000250416 human ensembl 70_37 +1 known silent c.355 p.L119 0.990 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 39 14 26.42 59 0 0.00 PARP2 10038 genome.wustl.edu 37 14 20818765 20818765 + Missense_Mutation SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 14 20818765 20818765 G C SNP PARP2 ENST00000250416 human ensembl 70_37 +1 known missense c.444 p.W148C 1.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 51 51 50.00 86 0 0.00 PARP4 143 genome.wustl.edu 37 13 25021201 25021201 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 13 25021201 25021201 G A SNP PARP4 ENST00000381989 human ensembl 70_37 -1 known missense c.3238 p.L1080F 0.979 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 46 6 11.54 65 0 0.00 PARP4 143 genome.wustl.edu 37 13 25021323 25021323 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 25021323 25021323 A G SNP PARP4 ENST00000381989 human ensembl 70_37 -1 known missense c.3116 p.I1039T 1.000 pfam_VWF_A,pfscan_VWF_A pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 30 6 16.67 39 0 0.00 PARP8 79668 genome.wustl.edu 37 5 50128632 50128632 + Frame_Shift_Del DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 50128632 50128632 A - DEL PARP8 ENST00000281631 human ensembl 70_37 +1 known frame_shift_del c.2251 p.K751fs 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 8 2 20.00 33 0 0.00 PARP9 83666 genome.wustl.edu 37 3 122247475 122247475 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 122247475 122247475 G A SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.2301 p.L767 0.972 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 37 5 11.90 61 0 0.00 PARP9 83666 genome.wustl.edu 37 3 122259323 122259323 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122259323 122259323 C T SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.1866 p.S622 0.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 94 16 14.55 113 0 0.00 PARP9 83666 genome.wustl.edu 37 3 122269447 122269447 + Missense_Mutation SNP T T A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 122269447 122269447 T A SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known missense c.1415 p.D472V 0.949 pfscan_A1pp pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 53 11 17.19 26 0 0.00 PARP9 83666 genome.wustl.edu 37 3 122274229 122274229 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 122274229 122274229 C T SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.894 p.K298 0.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 36 11 23.40 32 0 0.00 PARPBP 55010 genome.wustl.edu 37 12 102517807 102517807 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 102517807 102517807 G A SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known silent c.141 p.E47 1.000 NULL NULL - no_errors PARPBP HGNC ENSG00000185480 42 34 44.74 53 0 0.00 PARPBP 55010 genome.wustl.edu 37 12 102558365 102558366 + Frame_Shift_Ins INS - - A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 102558365 102558366 - A INS PARPBP ENST00000358383 human ensembl 70_37 +1 known frame_shift_ins c.645_646 p.Q216fs 1.000:1.000 NULL NULL - no_errors PARPBP HGNC ENSG00000185480 31 9 22.50 37 0 0.00 PARPBP 55010 genome.wustl.edu 37 12 102559603 102559603 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102559603 102559603 A G SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known missense c.763 p.N255D 0.420 NULL NULL - no_errors PARPBP HGNC ENSG00000185480 16 5 23.81 35 0 0.00 PARPBP 55010 genome.wustl.edu 37 12 102576370 102576370 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102576370 102576370 C T SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known missense c.1228 p.R410C 1.000 NULL NULL - no_errors PARPBP HGNC ENSG00000185480 12 10 45.45 36 0 0.00 PARPBP 55010 genome.wustl.edu 37 12 102590315 102590315 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102590315 102590315 C A SNP PARPBP ENST00000535811 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PARPBP HGNC ENSG00000185480 4 9 69.23 29 0 0.00 PARVB 29780 genome.wustl.edu 37 22 44514992 44514992 + Nonsense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 44514992 44514992 T A SNP PARVB ENST00000406477 human ensembl 70_37 +1 known nonsense c.447 p.Y149* 0.890 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 37 12 24.49 90 0 0.00 PARVB 29780 genome.wustl.edu 37 22 44547423 44547423 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 44547423 44547423 G A SNP PARVB ENST00000406477 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 11 21 65.62 64 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150793972 150793972 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 150793972 150793972 C T SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known missense c.599 p.S200L 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 72 10 12.20 72 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150840129 150840129 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 150840129 150840129 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known missense c.1315 p.A439T 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 79 19 19.39 83 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150840915 150840915 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 150840915 150840915 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1698 p.Q566 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 17 11 39.29 43 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150840924 150840924 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 150840924 150840924 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1707 p.E569 0.002 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 19 11 36.67 48 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150841059 150841059 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 150841059 150841059 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1842 p.Q614 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 106 53 33.33 147 0 0.00 PASD1 139135 genome.wustl.edu 37 X 150841059 150841059 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 150841059 150841059 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1842 p.Q614 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 26 17 39.53 32 0 0.00 PASK 23178 genome.wustl.edu 37 2 242047684 242047684 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 242047684 242047684 G A SNP PASK ENST00000358649 human ensembl 70_37 -1 known silent c.3586 p.L1196 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 29 18 38.30 44 0 0.00 PATE3 100169851 genome.wustl.edu 37 11 125660381 125660381 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 125660381 125660381 C T SNP PATE3 ENST00000445202 human ensembl 70_37 +1 known missense c.181 p.L61F 0.008 NULL NULL - no_errors PATE3 HGNC ENSG00000236027 21 12 36.36 20 0 0.00 PATE4 399968 genome.wustl.edu 37 11 125707802 125707802 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 125707802 125707802 G A SNP PATE4 ENST00000457514 human ensembl 70_37 +1 known missense c.98 p.G33E 0.000 NULL NULL - no_errors PATE4 HGNC ENSG00000237353 16 10 38.46 29 0 0.00 PATE4 399968 genome.wustl.edu 37 11 125708251 125708251 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 125708251 125708251 G C SNP PATE4 ENST00000457514 human ensembl 70_37 +1 known missense c.226 p.E76Q 0.008 NULL NULL - no_errors PATE4 HGNC ENSG00000237353 5 6 54.55 29 0 0.00 PATL1 219988 genome.wustl.edu 37 11 59421511 59421511 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 59421511 59421511 G A SNP PATL1 ENST00000300146 human ensembl 70_37 -1 known missense c.1066 p.H356Y 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 52 46 46.94 103 0 0.00 PATL1 219988 genome.wustl.edu 37 11 59426377 59426377 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 59426377 59426377 C G SNP PATL1 ENST00000300146 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 4 12 75.00 43 0 0.00 PATL2 197135 genome.wustl.edu 37 15 44965451 44965451 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 44965451 44965451 G A SNP PATL2 ENST00000434130 human ensembl 70_37 -1 known missense c.428 p.S143L 0.924 NULL pfam_Topo_II-assoc_PAT1 - no_errors PATL2 HGNC ENSG00000229474 99 28 22.05 57 0 0.00 PATZ1 23598 genome.wustl.edu 37 22 31740386 31740387 + Frame_Shift_Ins INS - - T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 31740386 31740387 - T INS PATZ1 ENST00000266269 human ensembl 70_37 -1 known frame_shift_ins c.1203_1202 p.H401fs 0.961:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 40 20 33.33 73 0 0.00 PATZ1 23598 genome.wustl.edu 37 22 31740573 31740573 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 31740573 31740573 G C SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.1016 p.S339C 0.996 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 46 7 13.21 79 0 0.00 PATZ1 23598 genome.wustl.edu 37 22 31741129 31741129 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 31741129 31741129 C A SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known nonsense c.460 p.E154* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 20 7 25.93 32 0 0.00 PATZ1 23598 genome.wustl.edu 37 22 31741282 31741282 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31741282 31741282 C G SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 22 11 33.33 53 0 0.00 PATZ1 23598 genome.wustl.edu 37 22 31741282 31741282 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31741282 31741282 C G SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 24 10 29.41 40 0 0.00 PAWR 5074 genome.wustl.edu 37 12 80014939 80014939 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 80014939 80014939 G A SNP PAWR ENST00000328827 human ensembl 70_37 -1 known nonsense c.565 p.R189* 1.000 NULL NULL - no_errors PAWR HGNC ENSG00000177425 13 32 71.11 39 0 0.00 PAWR 5074 genome.wustl.edu 37 12 80083663 80083663 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 80083663 80083663 G A SNP PAWR ENST00000328827 human ensembl 70_37 -1 known missense c.362 p.P121L 0.001 NULL NULL - no_errors PAWR HGNC ENSG00000177425 22 8 26.67 23 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21686349 21686349 + RNA SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 20 21686349 21686349 G A SNP PAX1 ENST00000460221 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PAX1 HGNC ENSG00000125813 47 19 28.79 106 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21686449 21686449 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 21686449 21686449 C T SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known silent c.99 p.L33 0.003 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 6 3 33.33 16 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21687070 21687070 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 21687070 21687070 C G SNP PAX1 ENST00000444366 human ensembl 70_37 +1 novel missense c.209 p.S70C 0.202 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 33 4 10.81 52 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21687618 21687618 + Missense_Mutation SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 20 21687618 21687618 G C SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known missense c.829 p.A277P 0.907 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 6 19 76.00 35 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21695175 21695175 + Missense_Mutation SNP T T A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 20 21695175 21695175 T A SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known missense c.1339 p.C447S 0.996 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 11 7 36.84 12 0 0.00 PAX1 5075 genome.wustl.edu 37 20 21695220 21695220 + Silent SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 21695220 21695220 C A SNP PAX1 ENST00000398485 human ensembl 70_37 +1 known silent c.1384 p.R462 0.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 15 7 31.82 19 0 0.00 PAX3 5077 genome.wustl.edu 37 2 223158986 223158986 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 223158986 223158986 G A SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known silent c.486 p.F162 0.995 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 49 7 12.50 63 0 0.00 PAX3 5077 genome.wustl.edu 37 2 223160330 223160330 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 223160330 223160330 C G SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known missense c.368 p.R123T 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 42 24 36.36 91 0 0.00 PAX3 5077 genome.wustl.edu 37 2 223160343 223160343 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 223160343 223160343 C T SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 35 24 40.68 89 0 0.00 PAX4 5078 genome.wustl.edu 37 7 127253524 127253524 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 127253524 127253524 G C SNP PAX4 ENST00000341640 human ensembl 70_37 -1 known missense c.601 p.L201V 0.998 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 10 23 69.70 69 0 0.00 PAX4 5078 genome.wustl.edu 37 7 127255468 127255468 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 127255468 127255468 G C SNP PAX4 ENST00000341640 human ensembl 70_37 -1 known nonsense c.107 p.S36* 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 17 21 55.26 63 0 0.00 PAX6 5080 genome.wustl.edu 37 11 31816307 31816307 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 31816307 31816307 C G SNP PAX6 ENST00000379107 human ensembl 70_37 -1 known missense c.595 p.E199Q 0.999 superfamily_Homeodomain-like pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 65 10 13.33 52 0 0.00 PAX7 5081 genome.wustl.edu 37 1 19027177 19027177 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 19027177 19027177 C T SNP PAX7 ENST00000375375 human ensembl 70_37 +1 known missense c.817 p.R273C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 45 8 14.81 93 0 0.00 PAX7 5081 genome.wustl.edu 37 1 19062470 19062470 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 19062470 19062470 G T SNP PAX7 ENST00000375375 human ensembl 70_37 +1 known silent c.1500 p.G500 0.007 NULL pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 35 4 10.26 40 0 0.00 PAX8 7849 genome.wustl.edu 37 2 113992973 113992973 + Nonsense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113992973 113992973 G C SNP PAX8 ENST00000429538 human ensembl 70_37 -1 known nonsense c.1085 p.S362* 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 29 8 21.62 33 0 0.00 PAX9 5083 genome.wustl.edu 37 14 37131133 37131133 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 37131133 37131133 C T SNP PAX9 ENST00000553267 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors PAX9 HGNC ENSG00000198807 49 30 37.50 74 0 0.00 PAX9 5083 genome.wustl.edu 37 14 37135651 37135651 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 37135651 37135651 C T SNP PAX9 ENST00000557107 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PAX9 HGNC ENSG00000198807 38 18 32.14 87 0 0.00 PAXIP1 22976 genome.wustl.edu 37 7 154751640 154751640 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 154751640 154751640 G A SNP PAXIP1 ENST00000397192 human ensembl 70_37 -1 known missense c.2438 p.A813V 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 13 9 40.91 40 0 0.00 PAXIP1 22976 genome.wustl.edu 37 7 154793209 154793210 + RNA INS - - T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 154793209 154793210 - T INS PAXIP1 ENST00000473219 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors PAXIP1 HGNC ENSG00000157212 25 4 13.79 22 0 0.00 PBLD 64081 genome.wustl.edu 37 10 70043943 70043943 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70043943 70043943 C T SNP PBLD ENST00000309049 human ensembl 70_37 -1 known silent c.858 p.L286 1.000 pirsf_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 64 32 33.33 70 0 0.00 PBLD 64081 genome.wustl.edu 37 10 70048324 70048324 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70048324 70048324 C T SNP PBLD ENST00000309049 human ensembl 70_37 -1 known missense c.607 p.E203K 0.090 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 26 16 38.10 31 0 0.00 PBLD 64081 genome.wustl.edu 37 10 70055968 70055968 + RNA DEL A A - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 70055968 70055968 A - DEL PBLD ENST00000478192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PBLD HGNC ENSG00000108187 13 4 23.53 22 0 0.00 PBLD 64081 genome.wustl.edu 37 10 70066543 70066543 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70066543 70066543 G A SNP PBLD ENST00000309049 human ensembl 70_37 -1 known missense c.59 p.P20L 1.000 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 47 10 17.54 63 0 0.00 PBRM1 55193 genome.wustl.edu 37 3 52651372 52651372 + Missense_Mutation SNP A A T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 52651372 52651372 A T SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known missense c.1724 p.I575N 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 43 55 56.12 131 0 0.00 PBRM1 55193 genome.wustl.edu 37 3 52668757 52668757 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52668757 52668757 G A SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known nonsense c.1162 p.Q388* 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 31 9 22.50 52 0 0.00 PBRM1 55193 genome.wustl.edu 37 3 52668775 52668775 + Frame_Shift_Del DEL C C - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 52668775 52668775 C - DEL PBRM1 ENST00000296302 human ensembl 70_37 -1 known frame_shift_del c.1144 p.V382fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 28 10 26.32 34 0 0.00 PBRM1 55193 genome.wustl.edu 37 3 52668791 52668791 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52668791 52668791 G C SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known missense c.1128 p.I376M 1.000 superfamily_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 26 9 25.71 41 0 0.00 PBX1 5087 genome.wustl.edu 37 1 164610544 164610544 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 164610544 164610544 C T SNP PBX1 ENST00000474046 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PBX1 HGNC ENSG00000185630 21 19 47.50 41 0 0.00 PBX1 5087 genome.wustl.edu 37 1 164761826 164761826 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 164761826 164761826 G C SNP PBX1 ENST00000420696 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX1 HGNC ENSG00000185630 69 32 31.68 63 0 0.00 PBX2 5089 genome.wustl.edu 37 6 32154456 32154456 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 32154456 32154456 G A SNP PBX2 ENST00000375050 human ensembl 70_37 -1 known silent c.1125 p.L375 0.998 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX2 HGNC ENSG00000204304 39 10 20.41 58 0 0.00 PBX2 5089 genome.wustl.edu 37 6 32154666 32154666 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 32154666 32154666 G C SNP PBX2 ENST00000375050 human ensembl 70_37 -1 known missense c.1037 p.S346C 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX2 HGNC ENSG00000204304 28 8 22.22 25 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142895468 142895468 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 142895468 142895468 C T SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors PBX2P1 HGNC ENSG00000244171 120 22 15.49 79 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142896297 142896297 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 142896297 142896297 C T SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 33 5 13.16 38 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142896395 142896395 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 142896395 142896395 G A SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors PBX2P1 HGNC ENSG00000244171 12 7 36.84 17 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142896496 142896496 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 142896496 142896496 C T SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.882 - - - no_errors PBX2P1 HGNC ENSG00000244171 35 14 28.57 25 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142897134 142897136 + RNA DEL TTT TTT - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 142897134 142897136 TTT - DEL PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.986:0.988:0.989 - - - no_errors PBX2P1 HGNC ENSG00000244171 31 5 13.89 34 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142897268 142897269 + RNA INS - - TTGT TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 142897268 142897269 - TTGT INS PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.430:0.352 - - - no_errors PBX2P1 HGNC ENSG00000244171 4 2 33.33 9 0 0.00 PBX2P1 5088 genome.wustl.edu 37 3 142897272 142897273 + RNA INS - - TTG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 3 142897272 142897273 - TTG INS PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.085:0.057 - - - no_errors PBX2P1 HGNC ENSG00000244171 18 2 10.00 18 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128678118 128678118 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 128678118 128678118 C T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.428 p.S143L 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 62 24 27.91 113 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128678194 128678194 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 128678194 128678194 G T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.504 p.E168D 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 24 19 44.19 67 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128697785 128697785 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 128697785 128697785 G T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known nonsense c.742 p.E248* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 29 13 30.95 32 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128723096 128723096 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 128723096 128723096 A G SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.977 p.N326S 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 15 9 37.50 40 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128724393 128724393 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 128724393 128724393 C A SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.1022 p.S341Y 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 19 6 24.00 37 0 0.00 PBX3 5090 genome.wustl.edu 37 9 128728131 128728131 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 128728131 128728131 G A SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.1234 p.A412T 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC ENSG00000167081 289 43 12.95 345 1 0.29 PBX3 5090 genome.wustl.edu 37 9 128729186 128729186 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 128729186 128729186 G T SNP PBX3 ENST00000492314 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX3 HGNC ENSG00000167081 62 20 24.39 67 0 0.00 PBXIP1 57326 genome.wustl.edu 37 1 154918210 154918210 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154918210 154918210 C T SNP PBXIP1 ENST00000368463 human ensembl 70_37 -1 known missense c.1940 p.G647D 0.972 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 28 4 12.50 23 0 0.00 PBXIP1 57326 genome.wustl.edu 37 1 154924206 154924206 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154924206 154924206 G C SNP PBXIP1 ENST00000493133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PBXIP1 HGNC ENSG00000163346 14 9 39.13 18 0 0.00 PC 5091 genome.wustl.edu 37 11 66616181 66616181 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 66616181 66616181 C G SNP PC ENST00000528224 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors PC HGNC ENSG00000173599 32 6 15.79 28 0 0.00 PC 5091 genome.wustl.edu 37 11 66618223 66618223 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 66618223 66618223 C T SNP PC ENST00000393958 human ensembl 70_37 -1 known missense c.2395 p.D799N 0.994 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 30 17 36.17 45 0 0.00 PCBD2 84105 genome.wustl.edu 37 5 134246123 134246123 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 134246123 134246123 C G SNP PCBD2 ENST00000254908 human ensembl 70_37 +1 known missense c.183 p.I61M 1.000 pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase - no_errors PCBD2 HGNC ENSG00000132570 19 27 58.70 35 0 0.00 PCBP1 5093 genome.wustl.edu 37 2 70314915 70314915 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 70314915 70314915 C G SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known missense c.40 p.L14V 1.000 smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 32 13 28.26 57 0 0.00 PCBP1 5093 genome.wustl.edu 37 2 70314924 70314924 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 70314924 70314924 C T SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known missense c.49 p.R17W 0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 31 13 29.55 62 0 0.00 PCBP1 5093 genome.wustl.edu 37 2 70315274 70315274 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 70315274 70315274 G A SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 26 14 35.00 48 0 0.00 PCBP1-AS1 400960 genome.wustl.edu 37 2 70190633 70190633 + Splice_Site SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 70190633 70190633 C A SNP PCBP1-AS1 ENST00000413436 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.002 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 15 4 21.05 21 0 0.00 PCBP1-AS1 400960 genome.wustl.edu 37 2 70191430 70191430 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 70191430 70191430 C T SNP PCBP1-AS1 ENST00000435880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 19 25 56.82 44 0 0.00 PCBP1-AS1 400960 genome.wustl.edu 37 2 70191501 70191501 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 70191501 70191501 C T SNP PCBP1-AS1 ENST00000435880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 34 25 42.37 26 0 0.00 PCBP1-AS1 400960 genome.wustl.edu 37 2 70314461 70314462 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 70314461 70314462 - T INS PCBP1-AS1 ENST00000413791 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 76 10 11.63 17 0 0.00 PCBP3 54039 genome.wustl.edu 37 21 47320525 47320525 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 21 47320525 47320525 G T SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known missense c.210 p.K70N 1.000 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 31 37 54.41 17 0 0.00 PCBP3 54039 genome.wustl.edu 37 21 47333873 47333873 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 21 47333873 47333873 G A SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known silent c.609 p.P203 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 7 28 80.00 38 0 0.00 PCBP3 54039 genome.wustl.edu 37 21 47337528 47337528 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 47337528 47337528 C A SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known silent c.702 p.A234 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 75 11 12.64 102 0 0.00 PCCA 5095 genome.wustl.edu 37 13 100741455 100741455 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 100741455 100741455 G A SNP PCCA ENST00000376285 human ensembl 70_37 +1 known silent c.81 p.L27 0.003 superfamily_PreATP-grasp_fold pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 4 6 60.00 16 0 0.00 PCCA 5095 genome.wustl.edu 37 13 100953745 100953745 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 13 100953745 100953745 G T SNP PCCA ENST00000376285 human ensembl 70_37 +1 known missense c.1097 p.G366V 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 34 4 10.53 81 0 0.00 PCCB 5096 genome.wustl.edu 37 3 135979188 135979188 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 135979188 135979188 G A SNP PCCB ENST00000468777 human ensembl 70_37 +1 putative silent c.456 p.L152 0.041 pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 28 21 42.86 34 0 0.00 PCCB 5096 genome.wustl.edu 37 3 135980905 135980905 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 135980905 135980905 C T SNP PCCB ENST00000251654 human ensembl 70_37 +1 known silent c.541 p.L181 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 44 15 25.42 42 0 0.00 PCDH1 5097 genome.wustl.edu 37 5 141233619 141233619 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 141233619 141233619 C G SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.3702 p.E1234D 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 36 19 34.55 63 0 0.00 PCDH1 5097 genome.wustl.edu 37 5 141236899 141236899 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 141236899 141236899 G A SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known silent c.3237 p.L1079 0.089 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 23 19 45.24 69 0 0.00 PCDH1 5097 genome.wustl.edu 37 5 141243154 141243154 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141243154 141243154 C G SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.2742 p.K914N 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 42 17 28.33 53 0 0.00 PCDH1 5097 genome.wustl.edu 37 5 141243226 141243226 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141243226 141243226 C T SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known silent c.2670 p.K890 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 66 19 22.35 67 0 0.00 PCDH1 5097 genome.wustl.edu 37 5 141243774 141243774 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 141243774 141243774 C T SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.2122 p.E708K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 19 5 20.83 15 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134071436 134071436 + Missense_Mutation SNP A A C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 134071436 134071436 A C SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.141 p.K47N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 56 22 27.85 89 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134071547 134071547 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 134071547 134071547 C A SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.252 p.I84 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 16 7 30.43 22 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134072049 134072049 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 134072049 134072049 C G SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.754 p.Q252E 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 20 3 13.04 26 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134072174 134072174 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 134072174 134072174 T G SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.879 p.I293M 0.976 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 18 10 35.71 50 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134072556 134072556 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 134072556 134072556 C T SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.1261 p.L421 0.952 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 45 28 38.36 55 0 0.00 PCDH10 57575 genome.wustl.edu 37 4 134073539 134073539 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 134073539 134073539 C T SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.2244 p.I748 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 30 7 18.92 62 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91090517 91090517 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 91090517 91090517 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.14 p.S5F 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 60 22 26.51 86 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91132649 91132649 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 91132649 91132649 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known silent c.1410 p.F470 0.076 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 49 43 46.74 95 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91133194 91133194 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 91133194 91133194 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.1955 p.S652L 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 40 21 34.43 81 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91133869 91133869 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 91133869 91133869 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.2630 p.S877F 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 14 7 33.33 29 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91642930 91642930 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 91642930 91642930 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.3341 p.S1114F 0.998 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 63 10 13.70 35 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91873845 91873845 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 91873845 91873845 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.3950 p.S1317L 0.998 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 137 67 32.68 187 0 0.00 PCDH11X 27328 genome.wustl.edu 37 X 91873933 91873933 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 91873933 91873933 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known silent c.4038 p.P1346 0.861 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 45 24 34.78 62 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141324975 141324975 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 141324975 141324975 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.3526 p.G1176S 0.010 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 45 11 19.64 30 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141324976 141324976 + Missense_Mutation SNP T T G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 141324976 141324976 T G SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.3525 p.R1175S 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 45 10 18.18 32 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141334932 141334932 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 141334932 141334932 G C SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.2485 p.Q829E 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 44 22 32.84 68 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141335086 141335086 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 141335086 141335086 G A SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.2331 p.L777 0.746 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 30 7 18.92 31 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141336211 141336211 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141336211 141336211 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.1206 p.L402 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 20 7 25.93 20 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141336489 141336489 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 141336489 141336489 G A SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.928 p.L310 0.922 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 11 9 45.00 32 0 0.00 PCDH12 51294 genome.wustl.edu 37 5 141337076 141337076 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 141337076 141337076 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.341 p.G114E 0.020 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 60 8 11.43 40 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55568613 55568613 + Nonsense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 55568613 55568613 C A SNP PCDH15 ENST00000395445 human ensembl 70_37 -1 novel nonsense c.5197 p.E1733* 0.161 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 58 43 42.57 89 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55581942 55581942 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 55581942 55581942 G A SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.5544 p.C1848 0.005 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 55 42 43.30 81 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55582403 55582403 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 55582403 55582403 C G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.5083 p.E1695Q 0.969 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 40 15 27.27 61 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55582734 55582734 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 55582734 55582734 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.4752 p.L1584 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 46 12 20.69 47 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55591180 55591180 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 55591180 55591180 C G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.4097 p.R1366T 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 20 8 28.57 46 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55600127 55600127 + Silent SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 55600127 55600127 T C SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.3936 p.A1312 0.989 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 28 15 34.88 46 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55626458 55626458 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 55626458 55626458 G A SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known nonsense c.3661 p.Q1221* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 45 9 16.67 54 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55698580 55698580 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 55698580 55698580 G C SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known nonsense c.3368 p.S1123* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 106 20 15.87 170 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55892704 55892704 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 55892704 55892704 G A SNP PCDH15 ENST00000373956 human ensembl 70_37 -1 known missense c.155 p.S52F 1.000 NULL NULL - no_errors PCDH15 HGNC ENSG00000150275 15 14 48.28 77 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55949126 55949126 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 55949126 55949126 G A SNP PCDH15 ENST00000409834 human ensembl 70_37 -1 putative missense c.136 p.P46S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 16 5 23.81 41 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55949131 55949131 + Missense_Mutation SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 10 55949131 55949131 C G SNP PCDH15 ENST00000409834 human ensembl 70_37 -1 putative missense c.131 p.G44A 0.969 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 27 4 12.90 23 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 55955586 55955586 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 55955586 55955586 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.1162 p.E388K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 120 26 17.81 136 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 56089395 56089395 + Silent SNP A A G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 56089395 56089395 A G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.666 p.Y222 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 14 6 30.00 23 0 0.00 PCDH15 65217 genome.wustl.edu 37 10 56138561 56138561 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 56138561 56138561 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.299 p.G100E 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 113 23 16.91 189 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58206826 58206826 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 13 58206826 58206826 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.146 p.P49L 0.978 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 16 6 27.27 11 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58207445 58207445 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 58207445 58207445 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known silent c.765 p.N255 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 66 11 14.29 43 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208026 58208026 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 58208026 58208026 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1346 p.S449F 0.624 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 28 41 59.42 75 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208055 58208055 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 58208055 58208055 G A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1375 p.A459T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 16 8 33.33 30 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208350 58208350 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 58208350 58208350 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1670 p.S557L 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 21 4 16.00 34 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208549 58208549 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 58208549 58208549 C G SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known silent c.1869 p.L623 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 18 11 37.93 28 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208837 58208837 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 58208837 58208837 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known silent c.2157 p.L719 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 20 9 31.03 32 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58208845 58208845 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 58208845 58208845 C A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.2165 p.A722D 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 35 4 10.26 34 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58298883 58298883 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 58298883 58298883 G A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.2935 p.E979K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 16 4 20.00 35 0 0.00 PCDH17 27253 genome.wustl.edu 37 13 58299233 58299233 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 58299233 58299233 G C SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.3285 p.Q1095H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 33 4 10.81 39 0 0.00 PCDH18 54510 genome.wustl.edu 37 4 138451499 138451499 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 138451499 138451499 G A SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known missense c.1744 p.R582C 0.988 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 15 11 42.31 31 0 0.00 PCDH18 54510 genome.wustl.edu 37 4 138451743 138451743 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 138451743 138451743 C G SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known silent c.1500 p.V500 0.347 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 19 16 45.71 22 0 0.00 PCDH18 54510 genome.wustl.edu 37 4 138453180 138453180 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 138453180 138453180 G A SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known silent c.63 p.F21 0.100 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 88 21 19.27 157 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99551216 99551216 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 99551216 99551216 G A SNP PCDH19 ENST00000464981 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCDH19 HGNC ENSG00000165194 15 9 37.50 28 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99597021 99597021 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 99597021 99597021 C T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.2728 p.E910K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 171 41 19.34 110 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99597061 99597061 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 99597061 99597061 G C SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.2688 p.F896L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 89 11 11.00 105 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99661981 99661981 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 99661981 99661981 C T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.1615 p.G539S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 49 15 23.44 54 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99662118 99662118 + Missense_Mutation SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 99662118 99662118 A G SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.1478 p.V493A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 41 20 32.79 76 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99662728 99662728 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 99662728 99662728 G A SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known nonsense c.868 p.Q290* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 41 12 22.64 63 0 0.00 PCDH19 57526 genome.wustl.edu 37 X 99663130 99663130 + Missense_Mutation SNP G G C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 X 99663130 99663130 G C SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.466 p.P156A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 45 26 36.62 114 1 0.87 PCDH19 57526 genome.wustl.edu 37 X 99663151 99663151 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 99663151 99663151 G T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.445 p.P149T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 7 24 77.42 32 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61986539 61986539 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 61986539 61986539 C T SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.1693 p.E565K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 20 9 31.03 21 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61987573 61987573 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 61987573 61987573 T C SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.659 p.E220G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 52 25 32.05 53 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61987574 61987574 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 61987574 61987574 C A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known nonsense c.658 p.E220* 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 53 24 31.17 53 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61987593 61987593 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 61987593 61987593 C A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.639 p.Q213H 0.975 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 59 32 35.16 42 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61987728 61987728 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 61987728 61987728 G A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known silent c.504 p.I168 0.979 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 16 16 50.00 43 0 0.00 PCDH20 64881 genome.wustl.edu 37 13 61988033 61988033 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 61988033 61988033 C T SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.199 p.E67K 1.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 17 5 22.73 11 0 0.00 PCDH7 5099 genome.wustl.edu 37 4 30723058 30723058 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 30723058 30723058 G A SNP PCDH7 ENST00000543491 human ensembl 70_37 +1 known missense c.14 p.R5Q 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 18 9 33.33 36 0 0.00 PCDH7 5099 genome.wustl.edu 37 4 30725352 30725352 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 30725352 30725352 G A SNP PCDH7 ENST00000543491 human ensembl 70_37 +1 known missense c.2308 p.D770N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 45 8 15.09 49 0 0.00 PCDH8 5100 genome.wustl.edu 37 13 53419040 53419040 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 53419040 53419040 C G SNP PCDH8 ENST00000377942 human ensembl 70_37 -1 known missense c.2868 p.K956N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 11 3 21.43 10 0 0.00 PCDH9 5101 genome.wustl.edu 37 13 66879055 66879055 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 66879055 66879055 C T SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.3446 p.G1149D 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 22 58 72.50 66 0 0.00 PCDH9 5101 genome.wustl.edu 37 13 67477724 67477724 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 67477724 67477724 C T SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.3050 p.S1017N 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 19 3 13.64 32 0 0.00 PCDH9 5101 genome.wustl.edu 37 13 67800080 67800080 + Silent SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 13 67800080 67800080 G A SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known silent c.2493 p.F831 0.938 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 20 57 74.03 105 0 0.00 PCDH9 5101 genome.wustl.edu 37 13 67800591 67800591 + Missense_Mutation SNP A A C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 67800591 67800591 A C SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.1982 p.V661G 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 12 10 45.45 45 0 0.00 PCDH9 5101 genome.wustl.edu 37 13 67801613 67801613 + Silent SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 13 67801613 67801613 T C SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known silent c.960 p.R320 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 180 67 27.13 231 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140165938 140165938 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 5 140165938 140165938 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 56 25 30.86 64 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140166014 140166014 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140166014 140166014 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known missense c.139 p.R47C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 52 32 38.10 109 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140166648 140166648 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140166648 140166648 G T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known missense c.773 p.G258V 0.585 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 19 11 36.67 36 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140167072 140167072 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 140167072 140167072 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1197 p.S399 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 151 19 11.18 121 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140167432 140167432 + Silent SNP A A G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167432 140167432 A G SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1557 p.A519 0.949 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 208 30 12.61 118 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140167441 140167441 + Silent SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167441 140167441 C G SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1566 p.P522 0.290 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 219 35 13.78 119 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140167459 140167459 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140167459 140167459 G A SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1584 p.L528 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 225 25 10.00 119 0 0.00 PCDHA1 56147 genome.wustl.edu 37 5 140167975 140167975 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140167975 140167975 G C SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.2100 p.L700 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 79 25 24.04 132 0 0.00 PCDHA10 56139 genome.wustl.edu 37 5 140236799 140236799 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140236799 140236799 C T SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known missense c.1166 p.T389M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 138 49 26.20 210 0 0.00 PCDHA10 56139 genome.wustl.edu 37 5 140236854 140236854 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140236854 140236854 G A SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known silent c.1221 p.V407 0.902 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 178 30 14.42 242 0 0.00 PCDHA10 56139 genome.wustl.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140237074 140237074 G A SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known missense c.1441 p.A481T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 108 111 50.68 213 0 0.00 PCDHA10 56139 genome.wustl.edu 37 5 140237263 140237263 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140237263 140237263 C T SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known silent c.1630 p.L544 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 88 82 48.24 172 0 0.00 PCDHA10 56139 genome.wustl.edu 37 5 140237744 140237744 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 140237744 140237744 C T SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known missense c.2111 p.A704V 0.914 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 42 43 50.59 94 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249108 140249108 + Silent SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 140249108 140249108 G T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.420 p.L140 0.336 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 33 4 10.81 41 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249474 140249474 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140249474 140249474 C G SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.786 p.L262 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 9 15 62.50 19 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249551 140249551 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140249551 140249551 G T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.863 p.G288V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 11 12 52.17 20 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249718 140249718 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140249718 140249718 G T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.1030 p.D344Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 23 20 46.51 46 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249735 140249735 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 5 140249735 140249735 C T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.1047 p.V349 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 35 20 36.36 47 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140249937 140249937 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140249937 140249937 G A SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.1249 p.V417M 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 167 31 15.66 236 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140250026 140250026 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 140250026 140250026 C T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.1338 p.D446 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 155 70 31.11 263 0 0.00 PCDHA11 56138 genome.wustl.edu 37 5 140250200 140250200 + Silent SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 5 140250200 140250200 G A SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.1512 p.S504 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 91 25 21.55 130 0 0.00 PCDHA12 56137 genome.wustl.edu 37 5 140256419 140256419 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140256419 140256419 G A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 72 85 54.14 171 0 0.00 PCDHA12 56137 genome.wustl.edu 37 5 140256735 140256735 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 140256735 140256735 G A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known missense c.1678 p.D560N 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 96 48 33.33 81 0 0.00 PCDHA12 56137 genome.wustl.edu 37 5 140257039 140257039 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 140257039 140257039 C A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known missense c.1982 p.S661Y 0.909 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 79 14 15.05 77 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262124 140262124 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 140262124 140262124 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.271 p.D91N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 17 16 48.48 30 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262124 140262124 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 140262124 140262124 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.271 p.D91N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 194 115 37.22 453 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262328 140262328 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140262328 140262328 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 19 12 38.71 53 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262422 140262422 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140262422 140262422 C G SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.569 p.S190C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 53 16 23.19 46 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262469 140262469 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140262469 140262469 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known nonsense c.616 p.Q206* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 41 17 29.31 32 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140262969 140262969 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140262969 140262969 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1116 p.I372 0.110 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 54 23 29.87 76 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140263052 140263052 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140263052 140263052 C G SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.1199 p.T400S 0.943 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 88 11 11.11 113 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140263676 140263676 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 140263676 140263676 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.1823 p.S608L 0.964 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 82 22 20.75 125 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140263677 140263677 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 140263677 140263677 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1824 p.S608 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 93 21 18.42 106 0 0.00 PCDHA13 56136 genome.wustl.edu 37 5 140263677 140263677 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 140263677 140263677 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1824 p.S608 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 84 22 20.75 124 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140174652 140174652 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 140174652 140174652 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.103 p.V35I 0.235 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 39 16 29.09 55 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140175000 140175000 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 5 140175000 140175000 C T SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.451 p.R151W 0.002 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 10 21 67.74 47 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140175999 140175999 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140175999 140175999 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.1450 p.A484T 0.280 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 197 33 14.35 95 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140176333 140176333 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 140176333 140176333 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.1784 p.R595H 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 135 37 21.51 173 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140176361 140176361 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140176361 140176361 C T SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known silent c.1812 p.N604 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 164 38 18.72 156 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140176634 140176634 + Missense_Mutation SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 140176634 140176634 T G SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.2085 p.D695E 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 87 14 13.86 100 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140176742 140176742 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140176742 140176742 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known silent c.2193 p.A731 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 82 24 22.64 145 0 0.00 PCDHA2 56146 genome.wustl.edu 37 5 140176967 140176967 + Silent SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 140176967 140176967 T C SNP PCDHA2 ENST00000378132 human ensembl 70_37 +1 known silent c.2418 p.S806 0.029 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 25 6 19.35 23 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140180798 140180798 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140180798 140180798 C T SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known nonsense c.16 p.R6* 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 53 9 14.52 50 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140182150 140182150 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140182150 140182150 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known silent c.1368 p.S456 0.004 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 165 79 32.38 188 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140182427 140182427 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 140182427 140182427 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.1645 p.V549M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 121 28 18.79 143 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140182480 140182480 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 140182480 140182480 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known silent c.1698 p.L566 0.993 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 97 35 26.52 151 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140183041 140183041 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140183041 140183041 G C SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.2259 p.Q753H 0.592 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 67 20 22.99 70 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140183169 140183169 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 140183169 140183169 C T SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.2387 p.S796L 0.033 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 11 4 26.67 26 0 0.00 PCDHA3 56145 genome.wustl.edu 37 5 140183220 140183220 + Nonsense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 5 140183220 140183220 C G SNP PCDHA3 ENST00000532566 human ensembl 70_37 +1 known nonsense c.2438 p.S813* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 17 7 29.17 16 0 0.00 PCDHA4 56144 genome.wustl.edu 37 5 140187459 140187459 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 140187459 140187459 C T SNP PCDHA4 ENST00000530339 human ensembl 70_37 +1 known silent c.687 p.L229 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 42 10 19.23 46 0 0.00 PCDHA5 56143 genome.wustl.edu 37 5 140201806 140201806 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140201806 140201806 C G SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known missense c.446 p.S149W 0.454 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 36 14 28.00 50 0 0.00 PCDHA5 56143 genome.wustl.edu 37 5 140202138 140202138 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140202138 140202138 G T SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known missense c.778 p.V260F 0.525 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 18 7 28.00 13 0 0.00 PCDHA5 56143 genome.wustl.edu 37 5 140202753 140202753 + Nonsense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 140202753 140202753 G T SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known nonsense c.1393 p.E465* 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 106 16 13.11 154 0 0.00 PCDHA5 56143 genome.wustl.edu 37 5 140203223 140203223 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 140203223 140203223 C G SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known missense c.1863 p.F621L 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 193 31 13.84 158 0 0.00 PCDHA6 56142 genome.wustl.edu 37 5 140208714 140208714 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140208714 140208714 C A SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known missense c.1038 p.N346K 0.039 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 27 14 34.15 42 0 0.00 PCDHA6 56142 genome.wustl.edu 37 5 140208780 140208780 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140208780 140208780 C T SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known silent c.1104 p.V368 0.555 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 193 52 21.22 267 1 0.37 PCDHA6 56142 genome.wustl.edu 37 5 140209119 140209119 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 140209119 140209119 C T SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known silent c.1443 p.D481 0.173 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 143 82 36.44 196 0 0.00 PCDHA6 56142 genome.wustl.edu 37 5 140209165 140209165 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 5 140209165 140209165 C T SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known missense c.1489 p.R497W 0.192 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 38 31 44.93 139 0 0.00 PCDHA6 56142 genome.wustl.edu 37 5 140209601 140209601 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 5 140209601 140209601 C G SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known missense c.1925 p.S642C 0.043 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 81 16 16.49 121 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140214113 140214113 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140214113 140214113 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.145 p.A49T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 48 20 29.41 55 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140214179 140214179 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140214179 140214179 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.211 p.R71C 0.012 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 94 13 12.15 109 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140214535 140214535 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140214535 140214535 A C SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known silent c.567 p.V189 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 3 7 70.00 12 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140215233 140215233 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140215233 140215233 A G SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1265 p.E422G 0.008 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 176 51 22.37 187 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140215295 140215295 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 140215295 140215295 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1327 p.V443M 0.891 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 94 26 21.49 112 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140215534 140215534 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140215534 140215534 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known silent c.1566 p.P522 0.132 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 230 59 20.42 187 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140215713 140215713 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 140215713 140215713 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1745 p.P582L 0.011 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 139 16 10.32 159 0 0.00 PCDHA7 56141 genome.wustl.edu 37 5 140216124 140216124 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 140216124 140216124 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.2156 p.T719M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 89 39 30.47 102 0 0.00 PCDHA8 56140 genome.wustl.edu 37 5 140220969 140220969 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 140220969 140220969 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 102 12 10.53 73 0 0.00 PCDHA8 56140 genome.wustl.edu 37 5 140221089 140221089 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 140221089 140221089 G A SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.183 p.P61 0.088 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 129 22 14.47 158 1 0.62 PCDHA8 56140 genome.wustl.edu 37 5 140221358 140221358 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140221358 140221358 G A SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.452 p.R151Q 0.932 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 45 28 38.36 42 0 0.00 PCDHA8 56140 genome.wustl.edu 37 5 140222139 140222139 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140222139 140222139 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.1233 p.S411 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 18 32 64.00 25 0 0.00 PCDHA8 56140 genome.wustl.edu 37 5 140222207 140222207 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140222207 140222207 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.1301 p.S434L 0.216 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 91 32 26.02 83 0 0.00 PCDHA8 56140 genome.wustl.edu 37 5 140222840 140222840 + Missense_Mutation SNP A A C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 5 140222840 140222840 A C SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.1934 p.H645P 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 51 24 32.00 128 1 0.77 PCDHA9 9752 genome.wustl.edu 37 5 140228212 140228212 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 140228212 140228212 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known silent c.132 p.F44 0.897 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 104 44 29.53 150 0 0.00 PCDHA9 9752 genome.wustl.edu 37 5 140228212 140228212 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 140228212 140228212 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known silent c.132 p.F44 0.897 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 35 11 23.91 43 0 0.00 PCDHA9 9752 genome.wustl.edu 37 5 140229588 140229588 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140229588 140229588 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known missense c.1508 p.S503L 0.584 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 54 38 41.30 89 0 0.00 PCDHA9 9752 genome.wustl.edu 37 5 140230162 140230162 + Silent SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 5 140230162 140230162 G T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known silent c.2082 p.V694 0.371 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 80 20 20.00 103 1 0.96 PCDHA9 9752 genome.wustl.edu 37 5 140230183 140230183 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 140230183 140230183 C G SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known missense c.2103 p.I701M 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 82 10 10.87 93 0 0.00 PCDHAC1 56135 genome.wustl.edu 37 5 140306841 140306841 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 140306841 140306841 C A SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.364 p.P122T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 94 19 16.81 106 0 0.00 PCDHAC1 56135 genome.wustl.edu 37 5 140308267 140308267 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 140308267 140308267 C T SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.1790 p.S597F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 34 23 40.35 29 0 0.00 PCDHAC1 56135 genome.wustl.edu 37 5 140308267 140308267 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 140308267 140308267 C T SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.1790 p.S597F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 81 36 30.77 80 0 0.00 PCDHAC1 56135 genome.wustl.edu 37 5 140308552 140308552 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 140308552 140308552 C G SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.2075 p.S692C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 2 6 75.00 10 0 0.00 PCDHAC2 56134 genome.wustl.edu 37 5 140347080 140347080 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140347080 140347080 C T SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known silent c.729 p.I243 0.967 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 22 3 12.00 27 0 0.00 PCDHAC2 56134 genome.wustl.edu 37 5 140347477 140347477 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140347477 140347477 G C SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known missense c.1126 p.E376Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 45 37 45.12 58 0 0.00 PCDHAC2 56134 genome.wustl.edu 37 5 140348363 140348363 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140348363 140348363 C T SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known missense c.2012 p.S671L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 34 20 37.04 73 0 0.00 PCDHB1 29930 genome.wustl.edu 37 5 140431083 140431083 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 140431083 140431083 C G SNP PCDHB1 ENST00000306549 human ensembl 70_37 +1 known missense c.28 p.Q10E 0.185 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 51 32 38.55 67 0 0.00 PCDHB1 29930 genome.wustl.edu 37 5 140433012 140433012 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 140433012 140433012 C T SNP PCDHB1 ENST00000306549 human ensembl 70_37 +1 known missense c.1957 p.L653F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 22 10 31.25 41 0 0.00 PCDHB10 56126 genome.wustl.edu 37 5 140573047 140573047 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 140573047 140573047 G C SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.922 p.D308H 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 29 8 21.62 50 0 0.00 PCDHB10 56126 genome.wustl.edu 37 5 140573239 140573239 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 140573239 140573239 G A SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.1114 p.D372N 0.929 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 18 3 14.29 38 0 0.00 PCDHB10 56126 genome.wustl.edu 37 5 140573806 140573806 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 5 140573806 140573806 G A SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.1681 p.V561M 0.894 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 89 36 28.80 219 0 0.00 PCDHB10 56126 genome.wustl.edu 37 5 140573946 140573946 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140573946 140573946 C G SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known silent c.1821 p.L607 0.072 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 48 27 36.00 52 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140579541 140579541 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140579541 140579541 G T SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.194 p.R65L 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 63 14 18.18 66 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140580141 140580141 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140580141 140580141 C T SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.794 p.S265L 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 40 14 25.93 35 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140580506 140580506 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 140580506 140580506 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.1159 p.E387K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 36 57 61.29 64 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140580667 140580667 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 5 140580667 140580667 G T SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.1320 p.L440F 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 30 58 65.91 171 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140580689 140580689 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 140580689 140580689 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.1342 p.A448T 0.467 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 77 16 17.20 83 0 0.00 PCDHB11 56125 genome.wustl.edu 37 5 140581381 140581381 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 140581381 140581381 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known silent c.2034 p.P678 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 97 54 35.76 158 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140589356 140589356 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140589356 140589356 G C SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.877 p.E293Q 0.068 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 36 9 20.00 26 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140589396 140589396 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 140589396 140589396 C G SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.917 p.P306R 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 38 8 16.67 57 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140589682 140589682 + Nonsense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 140589682 140589682 C A SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known nonsense c.1203 p.Y401* 0.650 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 17 3 15.00 30 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140589898 140589898 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140589898 140589898 C T SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known silent c.1419 p.I473 0.243 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 110 49 30.82 206 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140590433 140590433 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 140590433 140590433 C T SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.1954 p.R652C 0.879 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 21 13 38.24 34 0 0.00 PCDHB12 56124 genome.wustl.edu 37 5 140590708 140590708 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140590708 140590708 G A SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known silent c.2229 p.G743 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 72 55 43.31 90 0 0.00 PCDHB13 56123 genome.wustl.edu 37 5 140594526 140594526 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 140594526 140594526 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known silent c.831 p.E277 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 11 22 66.67 41 0 0.00 PCDHB13 56123 genome.wustl.edu 37 5 140595285 140595285 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 5 140595285 140595285 C T SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known silent c.1590 p.R530 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 115 88 43.35 181 0 0.00 PCDHB13 56123 genome.wustl.edu 37 5 140595330 140595330 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 140595330 140595330 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known silent c.1635 p.A545 0.181 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 143 73 33.80 127 0 0.00 PCDHB13 56123 genome.wustl.edu 37 5 140595503 140595503 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 5 140595503 140595503 C T SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known missense c.1808 p.S603L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 36 40 51.95 56 0 0.00 PCDHB13 56123 genome.wustl.edu 37 5 140595593 140595593 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 140595593 140595593 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known missense c.1898 p.R633H 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 131 42 24.28 110 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140603505 140603505 + Nonsense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140603505 140603505 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known nonsense c.428 p.S143* 0.311 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 55 10 15.38 64 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140603943 140603943 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 140603943 140603943 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.866 p.R289H 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 40 35 46.67 52 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140604233 140604233 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140604233 140604233 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.1156 p.Q386E 0.041 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 78 21 21.21 72 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140604874 140604874 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 140604874 140604874 C T SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known silent c.1797 p.N599 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 44 25 36.23 63 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140605043 140605043 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 140605043 140605043 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.1966 p.A656T 0.609 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 53 118 68.21 161 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140605131 140605131 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 140605131 140605131 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.2054 p.S685C 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 111 41 26.80 116 0 0.00 PCDHB14 56122 genome.wustl.edu 37 5 140605248 140605248 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140605248 140605248 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.2171 p.R724H 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 119 24 16.78 192 0 0.00 PCDHB15 56121 genome.wustl.edu 37 5 140625174 140625174 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 140625174 140625174 G A SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known missense c.28 p.E10K 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 27 28 50.00 49 0 0.00 PCDHB15 56121 genome.wustl.edu 37 5 140625700 140625700 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140625700 140625700 G C SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known missense c.554 p.R185P 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 8 10 55.56 26 0 0.00 PCDHB15 56121 genome.wustl.edu 37 5 140626409 140626409 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140626409 140626409 C T SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known silent c.1263 p.I421 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 125 38 23.31 132 0 0.00 PCDHB15 56121 genome.wustl.edu 37 5 140626529 140626529 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 140626529 140626529 C T SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known silent c.1383 p.R461 0.002 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 131 16 10.88 214 0 0.00 PCDHB15 56121 genome.wustl.edu 37 5 140627400 140627400 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 140627400 140627400 G A SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known missense c.2254 p.E752K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 163 43 20.87 212 0 0.00 PCDHB16 57717 genome.wustl.edu 37 5 140562422 140562422 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 140562422 140562422 C T SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known silent c.288 p.C96 0.212 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 20 11 35.48 30 0 0.00 PCDHB16 57717 genome.wustl.edu 37 5 140563728 140563728 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140563728 140563728 A G SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known missense c.1594 p.S532G 0.015 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 2 12 85.71 12 0 0.00 PCDHB16 57717 genome.wustl.edu 37 5 140563815 140563815 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 5 140563815 140563815 G A SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known missense c.1681 p.V561M 0.848 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 62 17 21.52 136 1 0.73 PCDHB18 54660 genome.wustl.edu 37 5 140615000 140615000 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 140615000 140615000 G A SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.272 - - - no_errors PCDHB18 HGNC ENSG00000146001 37 8 17.78 28 0 0.00 PCDHB18 54660 genome.wustl.edu 37 5 140615760 140615760 + RNA SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 140615760 140615760 T C SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.326 - - - no_errors PCDHB18 HGNC ENSG00000146001 110 52 31.71 129 0 0.00 PCDHB18 54660 genome.wustl.edu 37 5 140616070 140616070 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140616070 140616070 C T SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PCDHB18 HGNC ENSG00000146001 63 64 50.39 118 0 0.00 PCDHB18 54660 genome.wustl.edu 37 5 140616083 140616083 + RNA SNP T T A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 140616083 140616083 T A SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.935 - - - no_errors PCDHB18 HGNC ENSG00000146001 15 17 53.12 67 0 0.00 PCDHB2 56133 genome.wustl.edu 37 5 140475758 140475758 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140475758 140475758 G A SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.1384 p.V462I 0.022 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 123 21 14.58 137 0 0.00 PCDHB2 56133 genome.wustl.edu 37 5 140476487 140476487 + Missense_Mutation SNP T T C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 140476487 140476487 T C SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.2113 p.F705L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 78 29 26.85 127 0 0.00 PCDHB2 56133 genome.wustl.edu 37 5 140476557 140476557 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140476557 140476557 C T SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.2183 p.S728L 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 70 59 45.74 88 0 0.00 PCDHB2 56133 genome.wustl.edu 37 5 140476730 140476730 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 140476730 140476730 G A SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.2356 p.E786K 0.011 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 45 27 37.50 53 0 0.00 PCDHB3 56132 genome.wustl.edu 37 5 140480724 140480724 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140480724 140480724 G C SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.491 p.R164T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 24 15 38.46 24 0 0.00 PCDHB3 56132 genome.wustl.edu 37 5 140481518 140481518 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 140481518 140481518 C A SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.1285 p.P429T 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 39 21 35.00 100 0 0.00 PCDHB3 56132 genome.wustl.edu 37 5 140481796 140481796 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140481796 140481796 C T SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known silent c.1563 p.Y521 0.940 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 85 12 12.37 116 0 0.00 PCDHB3 56132 genome.wustl.edu 37 5 140482531 140482531 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140482531 140482531 C G SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.2298 p.F766L 0.964 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 35 37 51.39 52 0 0.00 PCDHB3 56132 genome.wustl.edu 37 5 140482562 140482562 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140482562 140482562 C G SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.2329 p.Q777E 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 62 23 26.74 122 0 0.00 PCDHB4 56131 genome.wustl.edu 37 5 140501901 140501901 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 140501901 140501901 G T SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known silent c.321 p.V107 0.011 pfam_Cadherin_N pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 14 3 17.65 30 0 0.00 PCDHB4 56131 genome.wustl.edu 37 5 140502130 140502130 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 140502130 140502130 C G SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.550 p.H184D 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 16 40 71.43 46 0 0.00 PCDHB4 56131 genome.wustl.edu 37 5 140502562 140502562 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 140502562 140502562 G C SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.982 p.G328R 0.932 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 20 3 13.04 24 0 0.00 PCDHB4 56131 genome.wustl.edu 37 5 140502607 140502607 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140502607 140502607 C T SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.1027 p.P343S 0.088 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 36 5 12.20 38 0 0.00 PCDHB5 26167 genome.wustl.edu 37 5 140515550 140515550 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140515550 140515550 T A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.534 p.F178L 0.163 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 23 6 20.69 51 0 0.00 PCDHB5 26167 genome.wustl.edu 37 5 140516882 140516882 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 140516882 140516882 G A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known silent c.1866 p.E622 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 175 56 24.24 165 0 0.00 PCDHB5 26167 genome.wustl.edu 37 5 140517210 140517210 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 140517210 140517210 C T SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.2194 p.P732S 0.052 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 107 51 32.28 123 0 0.00 PCDHB5 26167 genome.wustl.edu 37 5 140517297 140517297 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140517297 140517297 G A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.2281 p.G761S 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 54 45 45.00 103 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140530688 140530688 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140530688 140530688 G A SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.850 p.D284N 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 92 20 17.86 100 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140530897 140530897 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140530897 140530897 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1059 p.L353 0.005 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 30 19 38.78 45 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140530913 140530913 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140530913 140530913 C G SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.1075 p.P359A 0.863 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 17 6 26.09 46 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140531422 140531422 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 140531422 140531422 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1584 p.R528 0.119 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 145 24 14.20 168 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140531440 140531440 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 140531440 140531440 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1602 p.R534 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 98 22 18.33 219 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140531540 140531540 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 140531540 140531540 G A SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.1702 p.A568T 0.456 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 82 18 11.61 83 0 0.00 PCDHB6 56130 genome.wustl.edu 37 5 140532130 140532130 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 140532130 140532130 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.2292 p.F764 0.934 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 151 17 10.06 168 0 0.00 PCDHB7 56129 genome.wustl.edu 37 5 140552567 140552567 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140552567 140552567 G C SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.151 p.D51H 0.972 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 17 19 52.78 26 0 0.00 PCDHB7 56129 genome.wustl.edu 37 5 140553673 140553673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140553673 140553673 C G SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.1257 p.I419M 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 78 42 35.00 80 0 0.00 PCDHB7 56129 genome.wustl.edu 37 5 140553782 140553782 + Missense_Mutation SNP T T A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 140553782 140553782 T A SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.1366 p.Y456N 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 114 78 40.62 130 1 0.76 PCDHB7 56129 genome.wustl.edu 37 5 140553826 140553826 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 140553826 140553826 C T SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known silent c.1410 p.I470 0.044 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 90 80 47.06 116 0 0.00 PCDHB7 56129 genome.wustl.edu 37 5 140554024 140554024 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140554024 140554024 C T SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known silent c.1608 p.R536 0.346 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 99 69 41.07 183 0 0.00 PCDHB7 56129 genome.wustl.edu 37 5 140554795 140554795 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140554795 140554795 C T SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known silent c.2379 p.F793 0.017 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 69 36 34.29 63 0 0.00 PCDHB8 56128 genome.wustl.edu 37 5 140558959 140558959 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 140558959 140558959 C T SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1344 p.N448 0.994 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 42 47 52.81 147 0 0.00 PCDHB8 56128 genome.wustl.edu 37 5 140559550 140559550 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 140559550 140559550 C G SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1935 p.V645 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 125 19 13.19 132 0 0.00 PCDHB8 56128 genome.wustl.edu 37 5 140559613 140559613 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140559613 140559613 C A SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1998 p.G666 0.998 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 84 82 49.40 152 0 0.00 PCDHGA1 56114 genome.wustl.edu 37 5 140710561 140710561 + Missense_Mutation SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 5 140710561 140710561 G T SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known missense c.310 p.V104L 0.630 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 158 79 33.19 261 0 0.00 PCDHGA1 56114 genome.wustl.edu 37 5 140710615 140710615 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 140710615 140710615 G C SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 26 14 35.00 47 0 0.00 PCDHGA1 56114 genome.wustl.edu 37 5 140711085 140711085 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 140711085 140711085 G A SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known silent c.834 p.T278 0.963 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 14 21 60.00 13 0 0.00 PCDHGA1 56114 genome.wustl.edu 37 5 140711803 140711803 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140711803 140711803 C T SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known nonsense c.1552 p.R518* 0.216 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 26 5 16.13 45 0 0.00 PCDHGA1 56114 genome.wustl.edu 37 5 140712541 140712541 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 140712541 140712541 C T SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known missense c.2290 p.R764W 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 84 33 27.97 145 0 0.00 PCDHGA10 56106 genome.wustl.edu 37 5 140792799 140792799 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 140792799 140792799 G A SNP PCDHGA10 ENST00000398610 human ensembl 70_37 +1 known silent c.57 p.L19 0.709 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 48 6 11.11 61 0 0.00 PCDHGA10 56106 genome.wustl.edu 37 5 140793061 140793061 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140793061 140793061 G A SNP PCDHGA10 ENST00000398610 human ensembl 70_37 +1 known missense c.319 p.V107M 0.546 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 25 12 32.43 37 0 0.00 PCDHGA11 56105 genome.wustl.edu 37 5 140801036 140801036 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 140801036 140801036 G A SNP PCDHGA11 ENST00000398587 human ensembl 70_37 +1 known missense c.242 p.R81Q 0.391 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 41 36 46.75 52 0 0.00 PCDHGA11 56105 genome.wustl.edu 37 5 140802665 140802665 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 140802665 140802665 C T SNP PCDHGA11 ENST00000398587 human ensembl 70_37 +1 known missense c.1871 p.T624M 0.950 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 78 13 14.29 86 0 0.00 PCDHGA12 26025 genome.wustl.edu 37 5 140810713 140810713 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140810713 140810713 T C SNP PCDHGA12 ENST00000252085 human ensembl 70_37 +1 known silent c.387 p.N129 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 11 8 42.11 20 0 0.00 PCDHGA12 26025 genome.wustl.edu 37 5 140811189 140811189 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 140811189 140811189 C T SNP PCDHGA12 ENST00000252085 human ensembl 70_37 +1 known missense c.863 p.A288V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 91 14 13.33 126 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140719441 140719441 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140719441 140719441 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.903 p.L301 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 12 4 25.00 16 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140719441 140719441 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 140719441 140719441 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.903 p.L301 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 4 9 69.23 23 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140719613 140719613 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 140719613 140719613 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.1075 p.D359H 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 30 14 31.82 43 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720206 140720206 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 140720206 140720206 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1668 p.N556 0.364 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 56 15 21.13 132 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720212 140720212 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 140720212 140720212 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1674 p.N558 0.003 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 77 23 23.00 96 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720214 140720214 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 140720214 140720214 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.1676 p.A559V 0.005 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 83 51 38.06 123 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720392 140720392 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 140720392 140720392 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1854 p.S618 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 139 137 49.28 196 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720582 140720582 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 140720582 140720582 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2044 p.A682T 0.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 111 45 28.85 205 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720771 140720771 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140720771 140720771 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2233 p.G745R 0.987 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 57 28 32.94 169 0 0.00 PCDHGA2 56113 genome.wustl.edu 37 5 140720894 140720894 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 140720894 140720894 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2356 p.E786Q 0.340 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 57 9 13.64 74 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140723829 140723829 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140723829 140723829 C G SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.229 p.L77V 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 37 17 31.48 49 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140723925 140723925 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140723925 140723925 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.325 p.L109 0.133 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 37 8 17.78 64 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140724207 140724207 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 140724207 140724207 G C SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.607 p.E203Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 11 14 56.00 27 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140725511 140725511 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140725511 140725511 G A SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.1911 p.A637 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 127 42 24.56 217 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140725574 140725574 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140725574 140725574 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.1974 p.V658 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 79 73 48.03 100 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140725749 140725749 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140725749 140725749 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.2149 p.R717W 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 90 26 22.41 134 0 0.00 PCDHGA3 56112 genome.wustl.edu 37 5 140725995 140725995 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140725995 140725995 G C SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.2395 p.E799Q 0.006 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 30 22 42.31 45 0 0.00 PCDHGA4 56111 genome.wustl.edu 37 5 140736303 140736303 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 140736303 140736303 G A SNP PCDHGA4 ENST00000571252 human ensembl 70_37 +1 known silent c.1536 p.G512 0.073 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 8 10 55.56 62 0 0.00 PCDHGA4 56111 genome.wustl.edu 37 5 140737032 140737032 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 140737032 140737032 C T SNP PCDHGA4 ENST00000571252 human ensembl 70_37 +1 known silent c.2265 p.H755 0.548 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 82 25 23.36 96 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140744136 140744136 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 140744136 140744136 G A SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.239 p.R80Q 0.102 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 39 19 32.76 48 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140744563 140744563 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 140744563 140744563 C G SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known silent c.666 p.L222 0.243 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 88 28 24.14 93 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140744600 140744600 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140744600 140744600 G A SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.703 p.A235T 0.180 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 25 3 10.71 37 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140745349 140745349 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 140745349 140745349 C T SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known silent c.1452 p.N484 0.076 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 23 10 30.30 19 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140745607 140745607 + Silent SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 5 140745607 140745607 C T SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known silent c.1710 p.D570 0.437 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 75 36 32.43 95 0 0.00 PCDHGA5 56110 genome.wustl.edu 37 5 140746301 140746301 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140746301 140746301 G C SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.2404 p.E802Q 0.089 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 35 24 40.68 75 0 0.00 PCDHGA6 56109 genome.wustl.edu 37 5 140754203 140754203 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140754203 140754203 G A SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known missense c.553 p.E185K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 17 3 15.00 24 0 0.00 PCDHGA6 56109 genome.wustl.edu 37 5 140754711 140754711 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140754711 140754711 G A SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known missense c.1061 p.R354K 0.066 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 10 5 33.33 22 0 0.00 PCDHGA6 56109 genome.wustl.edu 37 5 140755393 140755393 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 140755393 140755393 C T SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known silent c.1743 p.S581 0.007 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 89 96 51.89 301 0 0.00 PCDHGA6 56109 genome.wustl.edu 37 5 140756057 140756057 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140756057 140756057 G T SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known nonsense c.2407 p.E803* 0.050 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 25 16 39.02 42 0 0.00 PCDHGA7 56108 genome.wustl.edu 37 5 140762733 140762733 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140762733 140762733 G C SNP PCDHGA7 ENST00000518325 human ensembl 70_37 +1 known missense c.267 p.R89S 0.981 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 39 7 15.22 33 0 0.00 PCDHGA7 56108 genome.wustl.edu 37 5 140764536 140764536 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 140764536 140764536 G A SNP PCDHGA7 ENST00000518325 human ensembl 70_37 +1 known silent c.2070 p.T690 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 95 17 15.18 88 0 0.00 PCDHGA8 9708 genome.wustl.edu 37 5 140772400 140772400 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 140772400 140772400 G A SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.20 p.R7H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 26 4 13.33 39 0 0.00 PCDHGA8 9708 genome.wustl.edu 37 5 140773110 140773110 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140773110 140773110 C T SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.730 p.H244Y 0.955 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 12 10 45.45 23 0 0.00 PCDHGA8 9708 genome.wustl.edu 37 5 140774125 140774125 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 140774125 140774125 C A SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.1745 p.A582E 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 84 19 18.45 163 0 0.00 PCDHGA8 9708 genome.wustl.edu 37 5 140774212 140774212 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140774212 140774212 C T SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.1832 p.A611V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 122 36 22.78 182 0 0.00 PCDHGA8 9708 genome.wustl.edu 37 5 140774555 140774555 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 5 140774555 140774555 C T SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known silent c.2175 p.L725 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 13 51 79.69 97 0 0.00 PCDHGA9 56107 genome.wustl.edu 37 5 140783709 140783709 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 140783709 140783709 C T SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1190 p.S397L 0.238 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 41 13 24.07 72 0 0.00 PCDHGA9 56107 genome.wustl.edu 37 5 140783879 140783879 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 140783879 140783879 C G SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1360 p.Q454E 0.015 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 21 5 19.23 34 0 0.00 PCDHGA9 56107 genome.wustl.edu 37 5 140783915 140783915 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140783915 140783915 G A SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1396 p.A466T 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 21 16 43.24 26 0 0.00 PCDHGA9 56107 genome.wustl.edu 37 5 140784703 140784703 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 140784703 140784703 C A SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known silent c.2184 p.T728 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 48 20 29.41 105 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140730212 140730212 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 140730212 140730212 C T SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.385 p.R129C 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 51 21 29.17 68 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140730746 140730746 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 5 140730746 140730746 G A SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.919 p.E307K 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 195 41 17.30 108 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140730998 140730998 + Nonsense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 140730998 140730998 G T SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known nonsense c.1171 p.E391* 0.049 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 26 3 10.34 20 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140731523 140731523 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140731523 140731523 G A SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.1696 p.D566N 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 70 25 26.32 63 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140731835 140731835 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140731835 140731835 G C SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.2008 p.D670H 0.941 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 46 30 39.47 58 0 0.00 PCDHGB1 56104 genome.wustl.edu 37 5 140731931 140731931 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 5 140731931 140731931 G A SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.2104 p.A702T 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 61 10 14.08 62 0 0.00 PCDHGB2 56103 genome.wustl.edu 37 5 140739720 140739720 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 140739720 140739720 G A SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known silent c.18 p.G6 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 71 11 13.41 54 0 0.00 PCDHGB2 56103 genome.wustl.edu 37 5 140741175 140741175 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741175 140741175 C G SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.1473 p.I491M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 50 26 34.21 96 0 0.00 PCDHGB2 56103 genome.wustl.edu 37 5 140741440 140741440 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741440 140741440 C G SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.1738 p.R580G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 40 25 38.46 65 0 0.00 PCDHGB2 56103 genome.wustl.edu 37 5 140741819 140741819 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741819 140741819 C T SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.2117 p.A706V 0.034 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 88 60 40.54 180 0 0.00 PCDHGB2 56103 genome.wustl.edu 37 5 140741884 140741884 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741884 140741884 C T SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known nonsense c.2182 p.Q728* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 104 62 37.35 224 0 0.00 PCDHGB3 56102 genome.wustl.edu 37 5 140750772 140750772 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140750772 140750772 G A SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.811 p.E271K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 38 19 33.33 27 0 0.00 PCDHGB3 56102 genome.wustl.edu 37 5 140750824 140750824 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 140750824 140750824 T C SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.863 p.V288A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 22 16 42.11 37 0 0.00 PCDHGB3 56102 genome.wustl.edu 37 5 140751844 140751844 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 5 140751844 140751844 C T SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.1883 p.T628M 0.490 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 29 6 16.67 38 0 0.00 PCDHGB4 8641 genome.wustl.edu 37 5 140768001 140768001 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 140768001 140768001 G C SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known missense c.550 p.E184Q 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 26 7 21.21 24 0 0.00 PCDHGB4 8641 genome.wustl.edu 37 5 140768904 140768904 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140768904 140768904 G A SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known missense c.1453 p.V485I 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 79 21 21.00 145 0 0.00 PCDHGB4 8641 genome.wustl.edu 37 5 140769353 140769353 + Silent SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 5 140769353 140769353 C T SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known silent c.1902 p.D634 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 16 7 30.43 58 0 0.00 PCDHGB6 56100 genome.wustl.edu 37 5 140788169 140788169 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 140788169 140788169 G C SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.400 p.D134H 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 28 17 37.78 37 0 0.00 PCDHGB6 56100 genome.wustl.edu 37 5 140788784 140788784 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 140788784 140788784 G C SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.1015 p.D339H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 38 21 35.59 39 0 0.00 PCDHGB6 56100 genome.wustl.edu 37 5 140789450 140789450 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 140789450 140789450 C T SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.1681 p.R561W 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 107 88 45.13 87 0 0.00 PCDHGB6 56100 genome.wustl.edu 37 5 140789474 140789474 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 140789474 140789474 C G SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.1705 p.P569A 0.011 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 162 20 10.99 105 0 0.00 PCDHGB7 56099 genome.wustl.edu 37 5 140797447 140797447 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140797447 140797447 G A SNP PCDHGB7 ENST00000398594 human ensembl 70_37 +1 known silent c.21 p.Q7 0.735 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 45 29 39.19 125 0 0.00 PCDHGB7 56099 genome.wustl.edu 37 5 140797792 140797792 + Silent SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140797792 140797792 G T SNP PCDHGB7 ENST00000398594 human ensembl 70_37 +1 known silent c.366 p.V122 0.012 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 73 14 16.09 139 0 0.00 PCDHGB8P 56120 genome.wustl.edu 37 5 140806704 140806704 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 140806704 140806704 G A SNP PCDHGB8P ENST00000502926 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 39 11 22.00 57 0 0.00 PCDHGB8P 56120 genome.wustl.edu 37 5 140806773 140806773 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140806773 140806773 G A SNP PCDHGB8P ENST00000502926 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 36 21 36.84 39 0 0.00 PCDHGC4 56098 genome.wustl.edu 37 5 140865903 140865903 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 140865903 140865903 G A SNP PCDHGC4 ENST00000306593 human ensembl 70_37 +1 known missense c.1163 p.R388H 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 36 4 10.00 49 0 0.00 PCDHGC4 56098 genome.wustl.edu 37 5 140866758 140866758 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140866758 140866758 T C SNP PCDHGC4 ENST00000306593 human ensembl 70_37 +1 known missense c.2018 p.V673A 0.958 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 24 24 50.00 49 0 0.00 PCDHGC5 56097 genome.wustl.edu 37 5 140870650 140870650 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140870650 140870650 G T SNP PCDHGC5 ENST00000252087 human ensembl 70_37 +1 known missense c.1843 p.A615S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 8 6 42.86 22 0 0.00 PCDP1 200373 genome.wustl.edu 37 2 120362840 120362840 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 120362840 120362840 G T SNP PCDP1 ENST00000602047 human ensembl 70_37 +1 known nonsense c.250 p.E84* 0.683 NULL NULL - no_errors PCDP1 Uniprot_genename ENSG00000163075 17 16 48.48 58 0 0.00 PCDP1 200373 genome.wustl.edu 37 2 120414017 120414017 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120414017 120414017 G T SNP PCDP1 ENST00000602047 human ensembl 70_37 +1 known missense c.1636 p.A546S 0.993 NULL NULL - no_errors PCDP1 Uniprot_genename ENSG00000163075 38 9 19.15 16 0 0.00 PCED1A 64773 genome.wustl.edu 37 20 2816721 2816721 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 20 2816721 2816721 T C SNP PCED1A ENST00000360652 human ensembl 70_37 -1 known missense c.1081 p.N361D 0.027 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC ENSG00000132635 26 4 13.33 28 0 0.00 PCED1A 64773 genome.wustl.edu 37 20 2816949 2816949 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 2816949 2816949 C T SNP PCED1A ENST00000360652 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC ENSG00000132635 30 9 23.08 24 0 0.00 PCED1B 91523 genome.wustl.edu 37 12 47629036 47629036 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 47629036 47629036 G C SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.190 p.G64R 0.989 superfamily_Esterase_SGNH_hydro-type superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 36 11 23.40 40 0 0.00 PCED1B 91523 genome.wustl.edu 37 12 47629064 47629064 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 47629064 47629064 G A SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.218 p.G73D 0.974 superfamily_Esterase_SGNH_hydro-type superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 12 3 20.00 22 0 0.00 PCED1B 91523 genome.wustl.edu 37 12 47629733 47629733 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 47629733 47629733 C T SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.887 p.S296F 0.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 8 5 38.46 9 0 0.00 PCED1B 91523 genome.wustl.edu 37 12 47629918 47629918 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 47629918 47629918 G A SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.1072 p.D358N 0.003 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 45 8 15.09 48 0 0.00 PCF11 51585 genome.wustl.edu 37 11 82876722 82876722 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 82876722 82876722 T A SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.783 p.I261 0.974 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 35 10 22.22 55 0 0.00 PCF11 51585 genome.wustl.edu 37 11 82877695 82877695 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 82877695 82877695 G A SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 14 15 51.72 26 0 0.00 PCF11 51585 genome.wustl.edu 37 11 82879498 82879498 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 82879498 82879498 C T SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.2121 p.F707 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 9 7 43.75 27 0 0.00 PCF11 51585 genome.wustl.edu 37 11 82879939 82879939 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 82879939 82879939 G C SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.2562 p.L854 0.998 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 119 23 16.20 83 0 0.00 PCF11 51585 genome.wustl.edu 37 11 82880510 82880510 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 82880510 82880510 C T SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known nonsense c.3133 p.Q1045* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 38 19 33.33 61 0 0.00 PCGF1 84759 genome.wustl.edu 37 2 74732735 74732735 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74732735 74732735 C T SNP PCGF1 ENST00000233630 human ensembl 70_37 -1 known missense c.595 p.E199K 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 18 8 30.77 23 0 0.00 PCGF3 10336 genome.wustl.edu 37 4 727716 727716 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 4 727716 727716 G A SNP PCGF3 ENST00000400151 human ensembl 70_37 +1 putative missense c.247 p.D83N 0.001 NULL NULL - no_errors PCGF3 HGNC ENSG00000185619 13 8 38.10 20 0 0.00 PCGF3 10336 genome.wustl.edu 37 4 728784 728784 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 728784 728784 G A SNP PCGF3 ENST00000362003 human ensembl 70_37 +1 known silent c.174 p.V58 0.989 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 19 13 40.62 39 0 0.00 PCGF3 10336 genome.wustl.edu 37 4 758843 758843 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 758843 758843 G T SNP PCGF3 ENST00000362003 human ensembl 70_37 +1 known missense c.672 p.W224C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 33 9 21.43 70 0 0.00 PCGF5 84333 genome.wustl.edu 37 10 93011180 93011180 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 93011180 93011180 G A SNP PCGF5 ENST00000336126 human ensembl 70_37 +1 known missense c.457 p.G153R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 20 3 13.04 20 0 0.00 PCGF5 84333 genome.wustl.edu 37 10 93021139 93021139 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 93021139 93021139 A C SNP PCGF5 ENST00000336126 human ensembl 70_37 +1 known missense c.531 p.K177N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 24 13 35.14 64 0 0.00 PCGF6 84108 genome.wustl.edu 37 10 105107191 105107191 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105107191 105107191 G C SNP PCGF6 ENST00000369847 human ensembl 70_37 -1 known missense c.574 p.Q192E 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 26 7 21.21 42 0 0.00 PCID2 55795 genome.wustl.edu 37 13 113835480 113835480 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113835480 113835480 C T SNP PCID2 ENST00000246505 human ensembl 70_37 -1 known missense c.912 p.M304I 1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 26 9 25.71 34 0 0.00 PCIF1 63935 genome.wustl.edu 37 20 44569771 44569771 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44569771 44569771 G A SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.598 p.E200K 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 16 13 44.83 51 0 0.00 PCIF1 63935 genome.wustl.edu 37 20 44569823 44569823 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 44569823 44569823 G A SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.650 p.R217Q 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 29 6 16.67 37 0 0.00 PCIF1 63935 genome.wustl.edu 37 20 44571747 44571747 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 20 44571747 44571747 C T SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.685 p.P229S 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 28 5 15.15 23 0 0.00 PCIF1 63935 genome.wustl.edu 37 20 44571761 44571761 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 44571761 44571761 C G SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.699 p.F233L 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 22 4 15.38 28 0 0.00 PCK2 5106 genome.wustl.edu 37 14 24568910 24568910 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24568910 24568910 G C SNP PCK2 ENST00000216780 human ensembl 70_37 +1 known missense c.996 p.W332C 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 31 19 36.54 50 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82390753 82390753 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 82390753 82390753 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.15064 p.D5022N 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 29 10 25.64 58 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82544421 82544421 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 82544421 82544421 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.12881 p.R4294T 0.998 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 21 13 38.24 31 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82544797 82544797 + Missense_Mutation SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 7 82544797 82544797 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.12505 p.L4169F 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 16 3 15.79 31 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82545481 82545481 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 82545481 82545481 G T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.11821 p.Q3941K 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 61 35 36.46 95 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82545961 82545961 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82545961 82545961 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known nonsense c.11341 p.R3781* 0.768 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 74 18 19.57 106 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82580629 82580629 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 82580629 82580629 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.9275 p.S3092L 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 70 48 40.68 104 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82580735 82580735 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 82580735 82580735 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.9169 p.G3057R 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 64 26 28.89 93 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82581809 82581809 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 82581809 82581809 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.8460 p.M2820I 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 205 51 19.92 163 1 0.61 PCLO 27445 genome.wustl.edu 37 7 82583425 82583425 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583425 82583425 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6844 p.E2282K 0.003 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 134 41 23.43 167 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82583502 82583502 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583502 82583502 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6767 p.R2256K 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 68 14 17.07 98 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82583509 82583509 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583509 82583509 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6760 p.D2254N 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 68 13 16.05 92 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82584937 82584937 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 82584937 82584937 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.5332 p.E1778K 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 102 13 11.30 125 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82585820 82585820 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 82585820 82585820 G C SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.4449 p.S1483R 0.082 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 53 14 20.90 80 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82585825 82585825 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 82585825 82585825 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.4444 p.D1482H 0.606 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 56 13 18.84 77 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82595426 82595426 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 82595426 82595426 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.3678 p.K1226N 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 301 51 14.45 376 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82595784 82595784 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 82595784 82595784 A C SNP PCLO ENST00000333891 human ensembl 70_37 -1 known nonsense c.3320 p.L1107* 1.000 pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 25 6 18.75 38 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82763807 82763807 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 82763807 82763807 C A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.3059 p.R1020I 0.854 superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 68 40 37.04 176 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82764156 82764156 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 82764156 82764156 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.2710 p.R904C 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 36 7 16.28 47 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82764339 82764339 + Nonsense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 82764339 82764339 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known nonsense c.2527 p.Q843* 0.421 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 103 86 45.50 163 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82764504 82764504 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82764504 82764504 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.600 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 168 46 21.50 218 0 0.00 PCLO 27445 genome.wustl.edu 37 7 82764745 82764745 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 82764745 82764745 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known silent c.2121 p.V707 0.917 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 66 26 28.26 114 0 0.00 PCM1 5108 genome.wustl.edu 37 8 17813125 17813125 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17813125 17813125 G A SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known missense c.1435 p.E479K 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 10 10 50.00 58 0 0.00 PCM1 5108 genome.wustl.edu 37 8 17817611 17817611 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17817611 17817611 C G SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known nonsense c.2129 p.S710* 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 28 10 26.32 51 0 0.00 PCM1 5108 genome.wustl.edu 37 8 17843594 17843594 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 17843594 17843594 G C SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known missense c.4408 p.D1470H 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 64 19 22.89 49 0 0.00 PCMTD1 115294 genome.wustl.edu 37 8 52732893 52732894 + RNA INS - - C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 70_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC ENSG00000168300 37 7 15.91 39 0 0.00 PCMTD2 55251 genome.wustl.edu 37 20 62891509 62891509 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62891509 62891509 C G SNP PCMTD2 ENST00000308824 human ensembl 70_37 +1 known nonsense c.191 p.S64* 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 33 75 69.44 65 0 0.00 PCMTD2 55251 genome.wustl.edu 37 20 62904609 62904609 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 62904609 62904609 C T SNP PCMTD2 ENST00000308824 human ensembl 70_37 +1 known missense c.742 p.R248C 1.000 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 12 35 74.47 42 0 0.00 PCNA 5111 genome.wustl.edu 37 20 5098124 5098124 + Nonsense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 5098124 5098124 C A SNP PCNA ENST00000379143 human ensembl 70_37 -1 known nonsense c.574 p.E192* 1.000 pfam_Pr_cel_nuc_antig_C,pfam_Rad9/Ddc1,tigrfam_Pr_cel_nuc_antig pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig - no_errors PCNA HGNC ENSG00000132646 22 14 38.89 50 0 0.00 PCNP 57092 genome.wustl.edu 37 3 101298450 101298450 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 101298450 101298450 C G SNP PCNP ENST00000498274 human ensembl 70_37 +1 known missense c.82 p.L28V 1.000 NULL NULL - no_errors PCNP HGNC ENSG00000081154 92 28 23.33 46 0 0.00 PCNP 57092 genome.wustl.edu 37 3 101311589 101311589 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 101311589 101311589 G C SNP PCNP ENST00000265260 human ensembl 70_37 +1 known missense c.529 p.D177H 1.000 NULL NULL - no_errors PCNP HGNC ENSG00000081154 104 27 20.61 120 0 0.00 PCNP 57092 genome.wustl.edu 37 3 101311687 101311687 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 101311687 101311687 G A SNP PCNP ENST00000486406 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PCNP HGNC ENSG00000081154 13 7 35.00 27 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47783729 47783729 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 47783729 47783729 C A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.2489 p.S830* 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 26 7 21.21 34 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47786940 47786940 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 21 47786940 47786940 G A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known silent c.3051 p.E1017 0.875 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 111 46 29.30 126 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47817292 47817292 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 47817292 47817292 G C SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.4330 p.E1444Q 0.997 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 17 10 37.04 29 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47831138 47831138 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 21 47831138 47831138 G A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known silent c.5151 p.L1717 0.629 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 18 12 38.71 37 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47831564 47831564 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 21 47831564 47831564 C T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known silent c.5577 p.F1859 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 79 46 36.51 129 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47836346 47836346 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 47836346 47836346 G C SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.6514 p.D2172H 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 52 7 11.86 57 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47845794 47845794 + Nonsense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 47845794 47845794 C G SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.7229 p.S2410* 0.920 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 67 11 14.10 71 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47851509 47851509 + Nonsense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 21 47851509 47851509 G T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.8131 p.E2711* 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 34 4 10.53 38 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47851552 47851552 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 47851552 47851552 A G SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.8174 p.E2725G 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 18 3 14.29 14 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47851644 47851644 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 47851644 47851644 G T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.8266 p.E2756* 0.994 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 22 9 29.03 25 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47860893 47860893 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 47860893 47860893 G A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.9519 p.M3173I 1.000 pfam_PACT_domain pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 23 4 14.29 30 0 0.00 PCNT 5116 genome.wustl.edu 37 21 47865279 47865279 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47865279 47865279 G A SNP PCNT ENST00000480896 human ensembl 70_37 +1 known rna NULL NULL 0.500 - - - no_errors PCNT HGNC ENSG00000160299 21 10 32.26 29 0 0.00 PCNX 22990 genome.wustl.edu 37 14 71489920 71489920 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 71489920 71489920 G T SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.3154 p.V1052F 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 36 4 10.00 47 0 0.00 PCNX 22990 genome.wustl.edu 37 14 71513704 71513704 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 71513704 71513704 G C SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.4042 p.E1348Q 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 39 16 29.09 77 0 0.00 PCNX 22990 genome.wustl.edu 37 14 71568837 71568837 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 71568837 71568837 C G SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.5720 p.S1907C 0.997 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 47 13 21.67 45 0 0.00 PCNX 22990 genome.wustl.edu 37 14 71575464 71575464 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 71575464 71575464 C T SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.6445 p.R2149W 0.997 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 18 30 62.50 52 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233152734 233152734 + Missense_Mutation SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 233152734 233152734 A G SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.4772 p.I1591T 0.935 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 19 7 26.92 27 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233372617 233372617 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 233372617 233372617 G A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.2332 p.R778C 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 264 62 18.90 201 1 0.50 PCNXL2 80003 genome.wustl.edu 37 1 233388160 233388160 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 233388160 233388160 C G SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.2068 p.E690Q 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 58 27 31.76 62 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233394164 233394164 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 233394164 233394164 G T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.1444 p.H482N 0.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 24 9 27.27 39 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233394536 233394536 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 233394536 233394536 G C SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.1072 p.L358V 0.947 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 32 16 33.33 33 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233394695 233394695 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 233394695 233394695 G A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known nonsense c.913 p.Q305* 0.037 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 16 16 50.00 40 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233394913 233394913 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 233394913 233394913 C A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.695 p.G232V 0.001 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 271 41 13.14 255 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233431150 233431150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 233431150 233431150 C T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known silent c.75 p.P25 0.084 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 11 8 42.11 20 0 0.00 PCNXL2 80003 genome.wustl.edu 37 1 233431150 233431150 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 233431150 233431150 C T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known silent c.75 p.P25 0.084 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 18 3 14.29 32 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65383829 65383829 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 65383829 65383829 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.47 p.S16L 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 19 22 52.38 55 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65390978 65390978 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 65390978 65390978 G A SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.2374 p.E792K 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 37 16 30.19 63 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65394439 65394439 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 65394439 65394439 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known silent c.3444 p.L1148 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 35 17 32.69 46 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65395032 65395032 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 65395032 65395032 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known silent c.3681 p.L1227 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 34 10 22.73 91 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65402860 65402860 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 11 65402860 65402860 T C SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.5125 p.S1709P 0.991 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 106 32 23.19 37 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65402863 65402863 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 11 65402863 65402863 G A SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.5128 p.D1710N 0.993 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 114 36 24.00 37 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65402865 65402865 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 65402865 65402865 C G SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.5130 p.D1710E 0.991 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 10 13 56.52 11 0 0.00 PCNXL3 399909 genome.wustl.edu 37 11 65403090 65403090 + Nonsense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 65403090 65403090 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known nonsense c.5275 p.Q1759* 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 111 99 47.14 86 0 0.00 PCNXL4 64430 genome.wustl.edu 37 14 60574948 60574948 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 60574948 60574948 G A SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.592 p.E198K 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 26 20 43.48 61 0 0.00 PCNXL4 64430 genome.wustl.edu 37 14 60581945 60581945 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 60581945 60581945 C G SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.1123 p.H375D 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 12 12 50.00 33 0 0.00 PCNXL4 64430 genome.wustl.edu 37 14 60591234 60591234 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 60591234 60591234 T C SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.2345 p.V782A 0.004 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 22 7 24.14 24 0 0.00 PCNXL4 64430 genome.wustl.edu 37 14 60591245 60591245 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 60591245 60591245 G A SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.2356 p.E786K 0.041 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 21 12 36.36 29 0 0.00 PCOLCE 5118 genome.wustl.edu 37 7 100201588 100201588 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 100201588 100201588 G A SNP PCOLCE ENST00000223061 human ensembl 70_37 +1 known missense c.211 p.E71K 0.998 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 58 31 34.83 42 0 0.00 PCOLCE 5118 genome.wustl.edu 37 7 100204157 100204157 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100204157 100204157 C T SNP PCOLCE ENST00000223061 human ensembl 70_37 +1 known nonsense c.844 p.Q282* 0.003 NULL pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 87 28 24.35 93 0 0.00 PCOLCE2 26577 genome.wustl.edu 37 3 142539879 142539879 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 142539879 142539879 C T SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.958 p.G320S 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 66 29 30.53 73 0 0.00 PCOLCE2 26577 genome.wustl.edu 37 3 142542411 142542411 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 3 142542411 142542411 C T SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known silent c.912 p.T304 0.030 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 40 6 13.04 39 0 0.00 PCOLCE2 26577 genome.wustl.edu 37 3 142561848 142561848 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 142561848 142561848 G A SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.491 p.S164F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 57 10 14.93 21 0 0.00 PCOLCE2 26577 genome.wustl.edu 37 3 142567129 142567129 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 142567129 142567129 C G SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.378 p.M126I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 32 52 61.90 45 0 0.00 PCP2 126006 genome.wustl.edu 37 19 7696640 7696640 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7696640 7696640 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known missense c.346 p.Q116E 0.959 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 26 12 31.58 28 0 0.00 PCP2 126006 genome.wustl.edu 37 19 7696640 7696640 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 7696640 7696640 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known missense c.346 p.Q116E 0.959 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 61 10 14.08 40 0 0.00 PCP2 126006 genome.wustl.edu 37 19 7696665 7696665 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 7696665 7696665 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known silent c.321 p.L107 1.000 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 58 9 13.43 66 0 0.00 PCP4 5121 genome.wustl.edu 37 21 41255441 41255441 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 21 41255441 41255441 C T SNP PCP4 ENST00000468717 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PCP4 HGNC ENSG00000183036 42 5 10.64 35 0 0.00 PCSK1 5122 genome.wustl.edu 37 5 95761604 95761604 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 95761604 95761604 C G SNP PCSK1 ENST00000311106 human ensembl 70_37 -1 known missense c.316 p.E106Q 0.997 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 77 22 22.00 113 0 0.00 PCSK2 5126 genome.wustl.edu 37 20 17434536 17434536 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 17434536 17434536 G C SNP PCSK2 ENST00000262545 human ensembl 70_37 +1 known missense c.1035 p.E345D 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 43 19 30.65 44 0 0.00 PCSK4 54760 genome.wustl.edu 37 19 1487169 1487169 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 1487169 1487169 G A SNP PCSK4 ENST00000300954 human ensembl 70_37 -1 known missense c.826 p.R276C 0.043 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 41 12 22.64 47 0 0.00 PCSK4 54760 genome.wustl.edu 37 19 1487842 1487842 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 1487842 1487842 C T SNP PCSK4 ENST00000300954 human ensembl 70_37 -1 known missense c.535 p.D179N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 11 5 31.25 16 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78638713 78638713 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 78638713 78638713 G C SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.471 p.K157N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 38 13 25.49 39 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78799601 78799601 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 78799601 78799601 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.2210 p.C737F 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 16 3 15.79 29 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78853949 78853949 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 78853949 78853949 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.2941 p.E981K 0.000 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 28 4 12.50 39 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78855546 78855546 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 78855546 78855546 C T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3088 p.P1030S 0.998 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 86 25 22.52 121 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78911633 78911633 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78911633 78911633 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3375 p.M1125I 0.274 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 46 24 34.29 69 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78911765 78911765 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 78911765 78911765 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3507 p.E1169D 0.430 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 19 4 17.39 35 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78936491 78936491 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 78936491 78936491 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known silent c.3957 p.V1319 0.988 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 18 5 21.74 18 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78938202 78938202 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 78938202 78938202 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4256 p.R1419K 0.997 superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 111 19 14.62 99 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78943113 78943113 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78943113 78943113 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4447 p.E1483K 0.035 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 24 14 36.84 32 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78953342 78953342 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 78953342 78953342 C A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4864 p.P1622T 0.978 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 7 7 50.00 26 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78968979 78968979 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78968979 78968979 G C SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.5017 p.E1673Q 0.986 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 32 15 31.91 32 0 0.00 PCSK5 5125 genome.wustl.edu 37 9 78973574 78973574 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 78973574 78973574 A T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known silent c.5319 p.P1773 0.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 39 15 27.78 66 0 0.00 PCSK6 5046 genome.wustl.edu 37 15 101858545 101858545 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 101858545 101858545 G A SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.2545 p.H849Y 0.983 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 25 4 13.79 36 0 0.00 PCSK6 5046 genome.wustl.edu 37 15 101865104 101865104 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 101865104 101865104 C T SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known silent c.2325 p.E775 0.014 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 8 11 57.89 20 0 0.00 PCSK6 5046 genome.wustl.edu 37 15 101872158 101872158 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 101872158 101872158 C T SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.1934 p.R645H 0.998 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 45 39 46.43 53 0 0.00 PCSK6 5046 genome.wustl.edu 37 15 101971654 101971654 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 101971654 101971654 C G SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.525 p.K175N 0.893 superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 26 8 23.53 41 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117076957 117076957 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 117076957 117076957 T C SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.2114 p.H705R 0.674 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 24 4 14.29 56 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117078531 117078532 + RNA INS - - TTCA TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 117078531 117078532 - TTCA INS PCSK7 ENST00000533135 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCSK7 HGNC ENSG00000160613 22 13 37.14 18 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117079626 117079626 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 117079626 117079626 G C SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.1678 p.R560G 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 19 4 17.39 18 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117089862 117089862 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 117089862 117089862 C G SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.1342 p.E448Q 0.995 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 7 5 41.67 17 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117094021 117094021 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 117094021 117094021 G A SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.1058 p.A353V 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 5 9 64.29 26 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117098005 117098005 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117098005 117098005 C G SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.637 p.D213H 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 39 9 18.75 57 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117098017 117098017 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117098017 117098017 G A SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.625 p.L209F 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 42 9 17.65 59 0 0.00 PCSK7 9159 genome.wustl.edu 37 11 117100428 117100428 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117100428 117100428 C G SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.133 p.D45H 0.003 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 36 7 16.28 47 0 0.00 PCSK9 255738 genome.wustl.edu 37 1 55505538 55505539 + Frame_Shift_Ins INS - - GA TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 55505538 55505539 - GA INS PCSK9 ENST00000302118 human ensembl 70_37 +1 known frame_shift_ins c.28_29 p.W10fs 0.000:0.154 NULL pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 90 41 31.30 78 0 0.00 PCYOX1 51449 genome.wustl.edu 37 2 70485306 70485306 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 70485306 70485306 G A SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.10 p.V4I 0.000 pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 16 7 30.43 25 0 0.00 PCYOX1 51449 genome.wustl.edu 37 2 70485372 70485372 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 70485372 70485372 G A SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.76 p.E26K 0.710 pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 11 5 31.25 17 0 0.00 PCYOX1 51449 genome.wustl.edu 37 2 70504018 70504018 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 70504018 70504018 C T SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known nonsense c.1012 p.Q338* 0.859 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 18 10 35.71 36 0 0.00 PCYOX1 51449 genome.wustl.edu 37 2 70504273 70504273 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 70504273 70504273 C G SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.1267 p.L423V 0.052 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 64 12 15.79 94 0 0.00 PCYOX1L 78991 genome.wustl.edu 37 5 148746982 148746982 + Missense_Mutation SNP C C G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 5 148746982 148746982 C G SNP PCYOX1L ENST00000274569 human ensembl 70_37 +1 known missense c.742 p.L248V 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 30 35 53.85 93 0 0.00 PCYOX1L 78991 genome.wustl.edu 37 5 148746985 148746985 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 148746985 148746985 G T SNP PCYOX1L ENST00000274569 human ensembl 70_37 +1 known missense c.745 p.V249F 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 49 13 20.97 88 0 0.00 PCYOX1L 78991 genome.wustl.edu 37 5 148747993 148747993 + Missense_Mutation SNP G G C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 148747993 148747993 G C SNP PCYOX1L ENST00000274569 human ensembl 70_37 +1 known missense c.1261 p.E421Q 0.936 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 62 10 13.89 62 0 0.00 PCYT1A 5130 genome.wustl.edu 37 3 195965567 195965567 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 195965567 195965567 C T SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 NULL pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 39 16 29.09 72 0 0.00 PCYT1A 5130 genome.wustl.edu 37 3 195968876 195968876 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 195968876 195968876 C T SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known silent c.651 p.A217 0.677 NULL pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 37 9 19.57 40 0 0.00 PCYT1A 5130 genome.wustl.edu 37 3 195969477 195969477 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195969477 195969477 G A SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known missense c.521 p.S174L 1.000 pfam_Cytidylyltransf pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 96 24 20.00 155 0 0.00 PCYT1B 9468 genome.wustl.edu 37 X 24580054 24580054 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 24580054 24580054 G A SNP PCYT1B ENST00000492876 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCYT1B HGNC ENSG00000102230 50 29 36.71 75 0 0.00 PCYT1B 9468 genome.wustl.edu 37 X 24593430 24593430 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 24593430 24593430 C G SNP PCYT1B ENST00000379144 human ensembl 70_37 -1 known missense c.714 p.K238N 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 21 45 68.18 99 0 0.00 PCYT2 5833 genome.wustl.edu 37 17 79863284 79863284 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79863284 79863284 C T SNP PCYT2 ENST00000538721 human ensembl 70_37 -1 known missense c.997 p.D333N 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 23 11 32.35 37 0 0.00 PCYT2 5833 genome.wustl.edu 37 17 79868881 79868881 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 79868881 79868881 C T SNP PCYT2 ENST00000573401 human ensembl 70_37 -1 known missense c.100 p.E34K 0.015 NULL NULL - no_errors PCYT2 HGNC ENSG00000185813 25 31 55.36 51 0 0.00 PDAP1 11333 genome.wustl.edu 37 7 99001128 99001128 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99001128 99001128 C T SNP PDAP1 ENST00000350498 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 NULL pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 25 13 34.21 54 0 0.00 PDCD10 11235 genome.wustl.edu 37 3 167405449 167405449 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 167405449 167405449 T C SNP PDCD10 ENST00000392750 human ensembl 70_37 -1 known missense c.428 p.D143G 1.000 pfam_DUF1241 pfam_DUF1241 - no_errors PDCD10 HGNC ENSG00000114209 21 8 27.59 32 0 0.00 PDCD11 22984 genome.wustl.edu 37 10 105201705 105201705 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 105201705 105201705 G A SNP PDCD11 ENST00000369797 human ensembl 70_37 +1 known silent c.4680 p.E1560 0.943 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 64 13 16.88 82 0 0.00 PDCD1LG2 80380 genome.wustl.edu 37 9 5549468 5549468 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5549468 5549468 C A SNP PDCD1LG2 ENST00000397747 human ensembl 70_37 +1 known missense c.495 p.S165R 0.831 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors PDCD1LG2 HGNC ENSG00000197646 26 3 10.34 49 0 0.00 PDCD2 5134 genome.wustl.edu 37 6 170892755 170892755 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 170892755 170892755 C A SNP PDCD2 ENST00000541970 human ensembl 70_37 -1 known nonsense c.364 p.E122* 0.000 NULL pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC ENSG00000071994 25 13 34.21 59 0 0.00 PDCD2L 84306 genome.wustl.edu 37 19 34912433 34912433 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 34912433 34912433 G C SNP PDCD2L ENST00000246535 human ensembl 70_37 +1 known missense c.807 p.W269C 1.000 pfam_PDCD2_C pfam_PDCD2_C - no_errors PDCD2L HGNC ENSG00000126249 86 24 21.82 128 0 0.00 PDCD2L 84306 genome.wustl.edu 37 19 34916921 34916921 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 34916921 34916921 C G SNP PDCD2L ENST00000246535 human ensembl 70_37 +1 known missense c.973 p.L325V 1.000 pfam_PDCD2_C pfam_PDCD2_C - no_errors PDCD2L HGNC ENSG00000126249 28 23 45.10 36 0 0.00 PDCD4 27250 genome.wustl.edu 37 10 112642770 112642770 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 112642770 112642770 G C SNP PDCD4 ENST00000280154 human ensembl 70_37 +1 known missense c.356 p.G119A 1.000 NULL pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 76 10 11.63 100 0 0.00 PDCD4 27250 genome.wustl.edu 37 10 112650326 112650326 + Missense_Mutation SNP T T A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 112650326 112650326 T A SNP PDCD4 ENST00000280154 human ensembl 70_37 +1 known missense c.888 p.D296E 0.999 superfamily_ARM-type_fold pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 66 15 18.52 72 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33855109 33855109 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 33855109 33855109 C G SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.323 p.S108C 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 31 13 29.55 53 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33863539 33863539 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 33863539 33863539 G A SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.427 p.D143N 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 27 22 44.90 58 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33866819 33866819 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33866819 33866819 A T SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.603 p.L201F 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 9 5 35.71 28 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33896794 33896794 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 33896794 33896794 C G SNP PDCD6IP ENST00000495235 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PDCD6IP HGNC ENSG00000170248 34 19 35.85 39 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33896806 33896806 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 33896806 33896806 C T SNP PDCD6IP ENST00000495235 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDCD6IP HGNC ENSG00000170248 33 17 34.00 33 0 0.00 PDCD6IP 10015 genome.wustl.edu 37 3 33906839 33906839 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33906839 33906839 G A SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known silent c.2364 p.A788 0.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 14 5 26.32 45 0 0.00 PDCD7 10081 genome.wustl.edu 37 15 65411147 65411147 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 65411147 65411147 C T SNP PDCD7 ENST00000204549 human ensembl 70_37 -1 known missense c.1366 p.D456N 0.991 NULL NULL - no_errors PDCD7 HGNC ENSG00000090470 80 11 12.09 66 0 0.00 PDCD7 10081 genome.wustl.edu 37 15 65412231 65412231 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65412231 65412231 T C SNP PDCD7 ENST00000204549 human ensembl 70_37 -1 known silent c.1071 p.K357 0.987 NULL NULL - no_errors PDCD7 HGNC ENSG00000090470 13 7 35.00 42 0 0.00 PDE10A 10846 genome.wustl.edu 37 6 165746607 165746607 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 165746607 165746607 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known silent c.2277 p.L759 0.996 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 26 11 29.73 29 0 0.00 PDE10A 10846 genome.wustl.edu 37 6 165756914 165756914 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 165756914 165756914 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known missense c.2063 p.T688M 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 12 8 40.00 20 0 0.00 PDE10A 10846 genome.wustl.edu 37 6 165801877 165801877 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 165801877 165801877 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known silent c.1722 p.Y574 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 55 23 29.49 55 0 0.00 PDE10A 10846 genome.wustl.edu 37 6 165848726 165848726 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 165848726 165848726 C T SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known missense c.536 p.G179E 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 30 11 26.83 47 0 0.00 PDE11A 50940 genome.wustl.edu 37 2 178682599 178682599 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 178682599 178682599 G C SNP PDE11A ENST00000286063 human ensembl 70_37 -1 known missense c.1630 p.Q544E 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 35 7 16.67 48 0 0.00 PDE11A 50940 genome.wustl.edu 37 2 178705049 178705049 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 178705049 178705049 C T SNP PDE11A ENST00000286063 human ensembl 70_37 -1 known missense c.1429 p.E477K 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 50 29 36.71 54 0 0.00 PDE12 201626 genome.wustl.edu 37 3 57542130 57542130 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 57542130 57542130 C A SNP PDE12 ENST00000311180 human ensembl 70_37 +1 known silent c.24 p.R8 0.996 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 29 13 30.95 56 0 0.00 PDE12 201626 genome.wustl.edu 37 3 57543266 57543266 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 57543266 57543266 G A SNP PDE12 ENST00000311180 human ensembl 70_37 +1 known missense c.1160 p.R387Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 25 18 41.86 45 0 0.00 PDE1A 5136 genome.wustl.edu 37 2 183066180 183066180 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 183066180 183066180 C T SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 10 7 41.18 31 0 0.00 PDE1A 5136 genome.wustl.edu 37 2 183070752 183070752 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 183070752 183070752 C G SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 39 13 25.00 28 0 0.00 PDE1A 5136 genome.wustl.edu 37 2 183099171 183099171 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 183099171 183099171 G A SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known silent c.453 p.I151 0.510 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 36 28 43.75 74 0 0.00 PDE1A 5136 genome.wustl.edu 37 2 183105003 183105003 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 183105003 183105003 C G SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.997 pfam_PDEase_N pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 13 16 55.17 27 0 0.00 PDE1A 5136 genome.wustl.edu 37 2 183387104 183387104 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 183387104 183387104 G T SNP PDE1A ENST00000482782 human ensembl 70_37 -1 known rna NULL NULL 0.343 - - - no_errors PDE1A HGNC ENSG00000115252 35 8 18.60 34 0 0.00 PDE1B 5153 genome.wustl.edu 37 12 54960780 54960780 + Silent SNP T T C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 54960780 54960780 T C SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known silent c.136 p.L46 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 26 6 18.75 30 0 0.00 PDE1B 5153 genome.wustl.edu 37 12 54967164 54967164 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 54967164 54967164 G C SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known missense c.862 p.D288H 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 45 34 43.04 42 0 0.00 PDE1B 5153 genome.wustl.edu 37 12 54968932 54968932 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 54968932 54968932 G A SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known missense c.1115 p.S372N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 22 19 45.24 40 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31864488 31864488 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 31864488 31864488 G A SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.1399 p.R467C 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 44 25 36.23 48 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31887617 31887617 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 31887617 31887617 C G SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.945 p.M315I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 38 8 17.39 65 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31890315 31890315 + Nonsense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 31890315 31890315 G C SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known nonsense c.791 p.S264* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 77 31 28.70 46 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31904683 31904683 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 7 31904683 31904683 G A SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.623 p.A208V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 39 23 37.10 50 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31917616 31917616 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 31917616 31917616 C T SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known silent c.459 p.L153 0.997 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 14 16 53.33 43 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 31920462 31920462 + Missense_Mutation SNP A A G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 31920462 31920462 A G SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.140 p.L47S 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 17 20 54.05 71 0 0.00 PDE1C 5137 genome.wustl.edu 37 7 32209496 32209496 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 32209496 32209496 C A SNP PDE1C ENST00000396193 human ensembl 70_37 -1 novel missense c.209 p.R70M 0.999 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 10 3 23.08 23 0 0.00 PDE2A 5138 genome.wustl.edu 37 11 72301026 72301026 + Splice_Site SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 72301026 72301026 C A SNP PDE2A ENST00000334456 human ensembl 70_37 -1 known splice_site c.757-1 e10-1 1.000 - - - no_errors PDE2A HGNC ENSG00000186642 13 3 18.75 25 0 0.00 PDE2A 5138 genome.wustl.edu 37 11 72308582 72308582 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 72308582 72308582 C A SNP PDE2A ENST00000485058 human ensembl 70_37 -1 known missense c.437 p.W146L 0.974 NULL NULL - no_errors PDE2A HGNC ENSG00000186642 92 38 29.23 71 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20522788 20522788 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 20522788 20522788 C T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.570 p.A190 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 19 4 17.39 18 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20522788 20522788 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 20522788 20522788 C T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.570 p.A190 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 49 41 45.05 28 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 20523043 20523043 G A SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.825 p.L275 0.011 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 31 12 27.91 33 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20709614 20709614 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 20709614 20709614 G T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.981 p.W327C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 32 15 31.91 102 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20766487 20766487 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 12 20766487 20766487 G C SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.1122 p.L374F 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 42 30 41.67 77 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20782869 20782869 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 20782869 20782869 C G SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known nonsense c.1568 p.S523* 0.127 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 106 41 27.89 74 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20799728 20799728 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 20799728 20799728 C G SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.2409 p.F803L 0.896 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 23 12 33.33 57 0 0.00 PDE3A 5139 genome.wustl.edu 37 12 20799820 20799820 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 20799820 20799820 C A SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.2501 p.A834D 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 17 9 34.62 53 0 0.00 PDE4A 5141 genome.wustl.edu 37 19 10557036 10557036 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 10557036 10557036 G A SNP PDE4A ENST00000352831 human ensembl 70_37 +1 known missense c.463 p.D155N 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 86 17 16.50 86 0 0.00 PDE4A 5141 genome.wustl.edu 37 19 10571734 10571734 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10571734 10571734 G A SNP PDE4A ENST00000352831 human ensembl 70_37 +1 known missense c.1420 p.D474N 0.997 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 25 34 57.63 48 0 0.00 PDE4A 5141 genome.wustl.edu 37 19 10572231 10572231 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 10572231 10572231 G A SNP PDE4A ENST00000352831 human ensembl 70_37 +1 known missense c.1495 p.E499K 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 64 34 34.69 76 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66384365 66384365 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 66384365 66384365 G A SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.128 p.R43K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 33 15 31.25 40 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66384436 66384436 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 66384436 66384436 G C SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.199 p.E67Q 0.998 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 109 31 21.99 84 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66458699 66458699 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66458699 66458699 G A SNP PDE4B ENST00000423207 human ensembl 70_37 +1 known missense c.110 p.G37E 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 8 10 55.56 33 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66723177 66723177 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 66723177 66723177 C T SNP PDE4B ENST00000371048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE4B HGNC ENSG00000184588 45 11 19.64 83 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66732396 66732396 + RNA SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 66732396 66732396 G C SNP PDE4B ENST00000371048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE4B HGNC ENSG00000184588 18 6 25.00 25 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66828900 66828900 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 66828900 66828900 G C SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.1070 p.G357A 0.999 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 70 44 38.60 53 0 0.00 PDE4B 5142 genome.wustl.edu 37 1 66833405 66833405 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 66833405 66833405 G A SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.1411 p.D471N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 91 13 12.50 53 0 0.00 PDE4C 5143 genome.wustl.edu 37 19 18322662 18322662 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 18322662 18322662 G A SNP PDE4C ENST00000355502 human ensembl 70_37 -1 known silent c.1698 p.A566 0.795 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 47 11 18.97 59 0 0.00 PDE4C 5143 genome.wustl.edu 37 19 18331127 18331127 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 18331127 18331127 G A SNP PDE4C ENST00000355502 human ensembl 70_37 -1 known silent c.711 p.F237 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 39 22 36.07 48 0 0.00 PDE4C 5143 genome.wustl.edu 37 19 18331347 18331347 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18331347 18331347 G T SNP PDE4C ENST00000593594 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4C HGNC ENSG00000105650 29 8 21.62 53 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144856866 144856866 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144856866 144856866 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.6619 p.L2207V 0.002 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 204 31 13.14 182 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144859829 144859829 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 144859829 144859829 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.6255 p.L2085 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 76 20 20.83 97 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144864276 144864276 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 144864276 144864276 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.5819 p.R1940Q 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 210 39 15.60 302 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144866706 144866706 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 144866706 144866706 C G SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.5536 p.E1846Q 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 82 20 19.61 47 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144874776 144874776 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 144874776 144874776 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.4832 p.S1611C 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 135 21 13.46 145 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144879063 144879063 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 144879063 144879063 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.4387 p.E1463K 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 252 30 10.64 200 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144879121 144879121 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 144879121 144879121 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.4329 p.Q1443 0.996 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 56 14 20.00 76 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144879256 144879256 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 144879256 144879256 C A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.4194 p.L1398 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 150 20 11.76 148 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144891398 144891398 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 144891398 144891398 C T SNP PDE4DIP ENST00000467859 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 23 6 20.69 65 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144904697 144904697 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 144904697 144904697 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.2615 p.R872Q 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 34 7 17.07 65 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144911895 144911895 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 144911895 144911895 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.2214 p.P738 0.649 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 98 12 10.91 75 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144911926 144911926 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 144911926 144911926 G T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known nonsense c.2183 p.S728* 0.040 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 54 12 18.18 73 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144915469 144915469 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 144915469 144915469 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.1956 p.V652 0.996 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 171 35 16.99 181 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144915534 144915534 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 144915534 144915534 G T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.1891 p.L631I 0.992 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 140 36 20.45 183 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144918884 144918884 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 144918884 144918884 T G SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.1302 p.Q434H 0.891 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 267 38 12.46 353 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144931290 144931290 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 144931290 144931290 C T SNP PDE4DIP ENST00000313431 human ensembl 70_37 -1 known missense c.419 p.C140Y 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 76 10 11.63 42 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144931628 144931628 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144931628 144931628 G C SNP PDE4DIP ENST00000313431 human ensembl 70_37 -1 known silent c.81 p.L27 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 58 10 14.71 44 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 144952297 144952297 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 144952297 144952297 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.422 p.S141L 0.168 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 167 20 10.70 106 1 0.93 PDE4DIP 9659 genome.wustl.edu 37 1 144952346 144952346 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 144952346 144952346 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.373 p.R125W 0.257 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 50 12 19.35 70 0 0.00 PDE4DIP 9659 genome.wustl.edu 37 1 145074997 145074997 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 145074997 145074997 G A SNP PDE4DIP ENST00000369345 human ensembl 70_37 -1 putative silent c.297 p.I99 0.000 NULL NULL - no_errors PDE4DIP HGNC ENSG00000178104 70 13 15.66 94 0 0.00 PDE5A 8654 genome.wustl.edu 37 4 120419875 120419875 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 120419875 120419875 C G SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.2509 p.E837Q 0.997 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 13 9 40.91 33 0 0.00 PDE5A 8654 genome.wustl.edu 37 4 120440276 120440276 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 120440276 120440276 C G SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.1924 p.E642Q 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 18 9 33.33 26 0 0.00 PDE5A 8654 genome.wustl.edu 37 4 120446713 120446713 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 120446713 120446713 C G SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.1770 p.M590I 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 36 4 10.00 29 0 0.00 PDE5A 8654 genome.wustl.edu 37 4 120549699 120549699 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 120549699 120549699 G A SNP PDE5A ENST00000354960 human ensembl 70_37 -1 known missense c.128 p.S43L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 40 28 41.18 48 0 0.00 PDE6A 5145 genome.wustl.edu 37 5 149276280 149276280 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 149276280 149276280 C G SNP PDE6A ENST00000255266 human ensembl 70_37 -1 known missense c.1467 p.E489D 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 39 12 23.53 89 0 0.00 PDE6A 5145 genome.wustl.edu 37 5 149324192 149324192 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 149324192 149324192 C T SNP PDE6A ENST00000255266 human ensembl 70_37 -1 known silent c.45 p.S15 0.124 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 28 23 45.10 32 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 647895 647895 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 647895 647895 G C SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.879 p.L293 0.990 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 72 14 16.28 106 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 654372 654372 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 654372 654372 C T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.1584 p.G528 0.849 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 20 13 39.39 54 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 657609 657609 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 657609 657609 C A SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.1971 p.I657 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 39 22 36.07 47 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 657639 657639 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 657639 657639 G A SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.2001 p.T667 0.014 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 31 4 11.43 31 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 657657 657657 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 657657 657657 C T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.2019 p.F673 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 13 10 43.48 13 0 0.00 PDE6B 5158 genome.wustl.edu 37 4 661666 661666 + Nonsense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 661666 661666 G T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known nonsense c.2374 p.E792* 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 27 9 25.00 23 0 0.00 PDE6C 5146 genome.wustl.edu 37 10 95372693 95372693 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 10 95372693 95372693 G A SNP PDE6C ENST00000371447 human ensembl 70_37 +1 known missense c.211 p.E71K 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 27 14 34.15 37 0 0.00 PDE6C 5146 genome.wustl.edu 37 10 95400710 95400710 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 95400710 95400710 G A SNP PDE6C ENST00000371447 human ensembl 70_37 +1 known missense c.1771 p.E591K 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 37 5 11.90 34 0 0.00 PDE6D 5147 genome.wustl.edu 37 2 232597737 232597737 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 232597737 232597737 G A SNP PDE6D ENST00000409772 human ensembl 70_37 -1 putative missense c.272 p.T91M 0.909 NULL pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors PDE6D HGNC ENSG00000156973 30 14 31.82 67 0 0.00 PDE6D 5147 genome.wustl.edu 37 2 232645809 232645809 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 232645809 232645809 C G SNP PDE6D ENST00000287600 human ensembl 70_37 -1 known missense c.16 p.E6Q 1.000 superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu - no_errors PDE6D HGNC ENSG00000156973 9 5 35.71 17 0 0.00 PDE7B 27115 genome.wustl.edu 37 6 136476786 136476786 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 136476786 136476786 C G SNP PDE7B ENST00000308191 human ensembl 70_37 +1 known missense c.601 p.L201V 0.998 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 37 7 15.91 71 0 0.00 PDE7B 27115 genome.wustl.edu 37 6 136512915 136512915 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 136512915 136512915 G A SNP PDE7B ENST00000308191 human ensembl 70_37 +1 known silent c.1290 p.G430 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 36 9 20.00 62 0 0.00 PDE8A 5151 genome.wustl.edu 37 15 85619134 85619134 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 85619134 85619134 T G SNP PDE8A ENST00000310298 human ensembl 70_37 +1 known missense c.476 p.V159G 1.000 pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 25 10 28.57 47 0 0.00 PDE8A 5151 genome.wustl.edu 37 15 85669515 85669515 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 85669515 85669515 G A SNP PDE8A ENST00000310298 human ensembl 70_37 +1 known silent c.2163 p.L721 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 38 6 13.64 32 0 0.00 PDE8B 8622 genome.wustl.edu 37 5 76633065 76633065 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 76633065 76633065 A C SNP PDE8B ENST00000264917 human ensembl 70_37 +1 known missense c.722 p.N241T 1.000 pfam_Sig_transdc_resp-reg_receiver pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 12 3 20.00 46 0 0.00 PDE9A 5152 genome.wustl.edu 37 21 44185528 44185528 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 44185528 44185528 G T SNP PDE9A ENST00000291539 human ensembl 70_37 +1 known missense c.1280 p.R427I 0.983 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 7 3 30.00 30 0 0.00 PDGFC 56034 genome.wustl.edu 37 4 157684185 157684185 + RNA SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 157684185 157684185 A G SNP PDGFC ENST00000504672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDGFC HGNC ENSG00000145431 11 5 31.25 33 0 0.00 PDGFC 56034 genome.wustl.edu 37 4 157688963 157688963 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 157688963 157688963 G A SNP PDGFC ENST00000502773 human ensembl 70_37 -1 known nonsense c.883 p.Q295* 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_CUB,pfam_PD_growth_factor,superfamily_CUB,smart_CUB,smart_PD_growth_factor,pfscan_CUB,pfscan_PD_growth_factor - no_errors PDGFC HGNC ENSG00000145431 74 46 38.33 197 0 0.00 PDGFRA 5156 genome.wustl.edu 37 4 55130043 55130043 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 55130043 55130043 G A SNP PDGFRA ENST00000257290 human ensembl 70_37 +1 known missense c.577 p.V193I 0.006 smart_Ig_sub,pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 5 10 66.67 20 0 0.00 PDGFRA 5156 genome.wustl.edu 37 4 55143649 55143649 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 55143649 55143649 G C SNP PDGFRA ENST00000257290 human ensembl 70_37 +1 known missense c.1881 p.K627N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 49 27 35.06 59 0 0.00 PDGFRB 5159 genome.wustl.edu 37 5 149501549 149501549 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149501549 149501549 G A SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known silent c.2238 p.D746 0.317 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC ENSG00000113721 34 16 32.00 60 0 0.00 PDGFRB 5159 genome.wustl.edu 37 5 149504303 149504303 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149504303 149504303 G C SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known silent c.1899 p.V633 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC ENSG00000113721 30 19 38.78 51 0 0.00 PDGFRB 5159 genome.wustl.edu 37 5 149506138 149506138 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 149506138 149506138 G A SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known missense c.1619 p.A540V 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC ENSG00000113721 63 14 18.18 95 0 0.00 PDGFRB 5159 genome.wustl.edu 37 5 149515391 149515391 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 149515391 149515391 G C SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known missense c.91 p.Q31E 0.004 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC ENSG00000113721 17 26 60.47 48 0 0.00 PDGFRL 5157 genome.wustl.edu 37 8 17447122 17447122 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 17447122 17447122 C T SNP PDGFRL ENST00000251630 human ensembl 70_37 +1 known silent c.201 p.I67 0.994 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PDGFRL HGNC ENSG00000104213 27 5 15.62 26 0 0.00 PDHA1 5160 genome.wustl.edu 37 X 19371082 19371082 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 19371082 19371082 G A SNP PDHA1 ENST00000479146 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDHA1 HGNC ENSG00000131828 97 28 22.40 126 0 0.00 PDHA1 5160 genome.wustl.edu 37 X 19372691 19372691 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 19372691 19372691 C A SNP PDHA1 ENST00000379806 human ensembl 70_37 +1 known missense c.707 p.A236D 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC ENSG00000131828 37 25 40.32 46 0 0.00 PDHA2 5161 genome.wustl.edu 37 4 96761857 96761857 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 96761857 96761857 G C SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.556 p.E186Q 0.182 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 23 17 42.50 37 0 0.00 PDHA2 5161 genome.wustl.edu 37 4 96761857 96761857 + Nonsense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 96761857 96761857 G T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.182 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 18 3 14.29 53 0 0.00 PDHA2 5161 genome.wustl.edu 37 4 96762017 96762017 + Missense_Mutation SNP A A T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 96762017 96762017 A T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.716 p.D239V 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 40 31 43.66 28 0 0.00 PDHA2 5161 genome.wustl.edu 37 4 96762017 96762017 + Missense_Mutation SNP A A T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 96762017 96762017 A T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.716 p.D239V 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 64 45 40.91 94 0 0.00 PDHA2 5161 genome.wustl.edu 37 4 96762259 96762259 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 96762259 96762259 G T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.958 p.D320Y 0.967 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 6 8 57.14 23 0 0.00 PDHB 5162 genome.wustl.edu 37 3 58413856 58413856 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 58413856 58413856 C T SNP PDHB ENST00000302746 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 38 25 39.68 39 0 0.00 PDHB 5162 genome.wustl.edu 37 3 58415943 58415943 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 58415943 58415943 C G SNP PDHB ENST00000302746 human ensembl 70_37 -1 known missense c.612 p.L204F 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 25 3 10.71 31 0 0.00 PDHX 8050 genome.wustl.edu 37 11 34988258 34988258 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 34988258 34988258 C T SNP PDHX ENST00000227868 human ensembl 70_37 +1 known missense c.713 p.T238I 0.030 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 40 28 41.18 50 0 0.00 PDHX 8050 genome.wustl.edu 37 11 34999698 34999698 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 34999698 34999698 T G SNP PDHX ENST00000227868 human ensembl 70_37 +1 known missense c.992 p.F331C 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 25 6 19.35 39 0 0.00 PDIA3 2923 genome.wustl.edu 37 15 44038783 44038783 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 44038783 44038783 C G SNP PDIA3 ENST00000300289 human ensembl 70_37 +1 known missense c.46 p.L16V 0.535 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 1 7 87.50 15 0 0.00 PDIA4 9601 genome.wustl.edu 37 7 148702242 148702242 + Missense_Mutation SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 148702242 148702242 A G SNP PDIA4 ENST00000286091 human ensembl 70_37 -1 known missense c.1513 p.F505L 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 38 9 19.15 80 0 0.00 PDIA5 10954 genome.wustl.edu 37 3 122821309 122821309 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122821309 122821309 G A SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known silent c.309 p.P103 0.899 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 57 21 26.58 30 0 0.00 PDIA5 10954 genome.wustl.edu 37 3 122865005 122865005 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 122865005 122865005 C T SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known silent c.1041 p.F347 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 43 8 15.69 24 0 0.00 PDIA5 10954 genome.wustl.edu 37 3 122865098 122865098 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 122865098 122865098 G A SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known nonsense c.1134 p.W378* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 33 5 13.16 24 0 0.00 PDIA5 10954 genome.wustl.edu 37 3 122869160 122869160 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 3 122869160 122869160 C T SNP PDIA5 ENST00000316218 human ensembl 70_37 +1 known missense c.1222 p.R408W 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 59 14 19.18 87 0 0.00 PDIA6 10130 genome.wustl.edu 37 2 10925075 10925075 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 10925075 10925075 G T SNP PDIA6 ENST00000381611 human ensembl 70_37 -1 known missense c.1254 p.D418E 0.757 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 21 4 16.00 28 0 0.00 PDIA6 10130 genome.wustl.edu 37 2 10959439 10959439 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 10959439 10959439 G C SNP PDIA6 ENST00000404371 human ensembl 70_37 -1 putative missense c.136 p.P46A 0.001 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 43 9 17.31 44 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20371898 20371898 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 20371898 20371898 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.1498 p.E500K 0.052 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 48 18 27.27 72 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20371898 20371898 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 20371898 20371898 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.1498 p.E500K 0.052 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 52 7 11.86 82 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20380942 20380942 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 20380942 20380942 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.988 p.E330K 0.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 41 9 18.00 60 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20380946 20380946 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 20380946 20380946 G T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known silent c.984 p.V328 0.058 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 42 5 10.64 58 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20396079 20396079 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 20396079 20396079 G T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known silent c.297 p.G99 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 32 4 11.11 53 0 0.00 PDILT 204474 genome.wustl.edu 37 16 20410556 20410556 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 20410556 20410556 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.67 p.E23K 0.131 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 38 25 39.68 77 0 0.00 PDK1 5163 genome.wustl.edu 37 2 173429744 173429744 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 173429744 173429744 C G SNP PDK1 ENST00000431718 human ensembl 70_37 +1 known nonsense c.449 p.S150* 1.000 NULL pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N - no_errors PDK1 HGNC ENSG00000152256 43 6 12.24 48 0 0.00 PDK1 5163 genome.wustl.edu 37 2 173451093 173451093 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 173451093 173451093 G C SNP PDK1 ENST00000282077 human ensembl 70_37 +1 known missense c.1033 p.E345Q 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 37 9 19.57 39 0 0.00 PDK1 5163 genome.wustl.edu 37 2 173451105 173451105 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 173451105 173451105 G A SNP PDK1 ENST00000282077 human ensembl 70_37 +1 known missense c.1045 p.A349T 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 16 20 55.56 29 0 0.00 PDK2 5164 genome.wustl.edu 37 17 48185735 48185735 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 48185735 48185735 C T SNP PDK2 ENST00000503176 human ensembl 70_37 +1 known missense c.815 p.P272L 0.990 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK2 HGNC ENSG00000005882 68 26 27.66 101 0 0.00 PDK3 5165 genome.wustl.edu 37 X 24517162 24517162 + RNA DEL T T - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 24517162 24517162 T - DEL PDK3 ENST00000493226 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors PDK3 HGNC ENSG00000067992 11 3 21.43 20 0 0.00 PDK3 5165 genome.wustl.edu 37 X 24523381 24523381 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 24523381 24523381 C A SNP PDK3 ENST00000441463 human ensembl 70_37 +1 known silent c.561 p.I187 1.000 pfam_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 40 18 31.03 70 0 0.00 PDK3 5165 genome.wustl.edu 37 X 24552121 24552121 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 24552121 24552121 G A SNP PDK3 ENST00000441463 human ensembl 70_37 +1 known missense c.1153 p.E385K 1.000 NULL pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 42 23 35.38 35 0 0.00 PDK4 5166 genome.wustl.edu 37 7 95216836 95216836 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 95216836 95216836 G A SNP PDK4 ENST00000005178 human ensembl 70_37 -1 known missense c.875 p.S292L 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 16 8 33.33 19 0 0.00 PDK4 5166 genome.wustl.edu 37 7 95219000 95219000 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 95219000 95219000 G A SNP PDK4 ENST00000005178 human ensembl 70_37 -1 known silent c.723 p.I241 0.453 superfamily_ATPase-like_ATP-bd pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 22 4 15.38 29 0 0.00 PDLIM1 9124 genome.wustl.edu 37 10 97050682 97050682 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 97050682 97050682 G A SNP PDLIM1 ENST00000477757 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDLIM1 HGNC ENSG00000107438 20 8 28.57 29 0 0.00 PDLIM1 9124 genome.wustl.edu 37 10 97050722 97050722 + RNA SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 10 97050722 97050722 G C SNP PDLIM1 ENST00000477757 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDLIM1 HGNC ENSG00000107438 9 17 65.38 13 0 0.00 PDLIM2 64236 genome.wustl.edu 37 8 22447189 22447189 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 22447189 22447189 G A SNP PDLIM2 ENST00000308354 human ensembl 70_37 +1 known missense c.1448 p.R483Q 0.797 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 53 42 44.21 131 0 0.00 PDLIM3 27295 genome.wustl.edu 37 4 186423481 186423481 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 186423481 186423481 G A SNP PDLIM3 ENST00000284770 human ensembl 70_37 -1 known silent c.1062 p.G354 0.998 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 21 8 27.59 55 0 0.00 PDLIM3 27295 genome.wustl.edu 37 4 186425697 186425697 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 186425697 186425697 C T SNP PDLIM3 ENST00000284770 human ensembl 70_37 -1 known silent c.837 p.T279 0.925 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 10 23 69.70 27 0 0.00 PDLIM5 10611 genome.wustl.edu 37 4 95444881 95444881 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 95444881 95444881 G C SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.103 p.D35H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 63 21 25.00 73 0 0.00 PDLIM5 10611 genome.wustl.edu 37 4 95444929 95444929 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 95444929 95444929 C G SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.151 p.L51V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 69 19 21.59 99 0 0.00 PDLIM5 10611 genome.wustl.edu 37 4 95444938 95444938 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 95444938 95444938 G C SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.160 p.D54H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 52 14 21.21 63 0 0.00 PDLIM5 10611 genome.wustl.edu 37 4 95539295 95539295 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 95539295 95539295 C T SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.279 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 17 8 32.00 40 0 0.00 PDLIM7 9260 genome.wustl.edu 37 5 176917893 176917893 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176917893 176917893 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 40 37 48.05 43 0 0.00 PDLIM7 9260 genome.wustl.edu 37 5 176917897 176917897 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 176917897 176917897 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known silent c.546 p.P182 0.998 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 59 10 14.49 74 0 0.00 PDLIM7 9260 genome.wustl.edu 37 5 176918017 176918017 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176918017 176918017 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known missense c.529 p.E177K 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 56 51 47.66 57 0 0.00 PDP1 54704 genome.wustl.edu 37 8 94934923 94934923 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 94934923 94934923 G C SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known missense c.711 p.L237F 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC ENSG00000164951 63 8 11.27 24 0 0.00 PDP1 54704 genome.wustl.edu 37 8 94934993 94934993 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 94934993 94934993 C T SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known silent c.781 p.L261 0.988 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC ENSG00000164951 16 11 40.74 21 0 0.00 PDP1 54704 genome.wustl.edu 37 8 94935385 94935385 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 94935385 94935385 G C SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known missense c.1173 p.K391N 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC ENSG00000164951 16 5 23.81 43 0 0.00 PDP2 57546 genome.wustl.edu 37 16 66919167 66919167 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 66919167 66919167 C T SNP PDP2 ENST00000311765 human ensembl 70_37 +1 known missense c.980 p.S327L 0.980 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP2 HGNC ENSG00000172840 46 13 22.03 82 0 0.00 PDPK1 5170 genome.wustl.edu 37 16 2607870 2607870 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 2607870 2607870 C T SNP PDPK1 ENST00000342085 human ensembl 70_37 +1 known missense c.191 p.S64F 0.275 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC ENSG00000140992 61 23 27.06 87 0 0.00 PDPK1 5170 genome.wustl.edu 37 16 2647264 2647264 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 2647264 2647264 C A SNP PDPK1 ENST00000342085 human ensembl 70_37 +1 known missense c.1542 p.F514L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC ENSG00000140992 15 8 34.78 47 0 0.00 PDPK1 5170 genome.wustl.edu 37 16 2651470 2651470 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2651470 2651470 G A SNP PDPK1 ENST00000561962 human ensembl 70_37 +1 putative rna NULL NULL 0.482 - - - no_errors PDPK1 HGNC ENSG00000140992 54 28 34.15 106 0 0.00 PDPR 55066 genome.wustl.edu 37 16 70190480 70190480 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 70190480 70190480 G C SNP PDPR ENST00000288050 human ensembl 70_37 +1 known missense c.2338 p.D780H 1.000 pfam_GCV_T_C pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 279 75 21.19 361 0 0.00 PDRG1 81572 genome.wustl.edu 37 20 30533645 30533645 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 30533645 30533645 C T SNP PDRG1 ENST00000202017 human ensembl 70_37 -1 known missense c.367 p.E123K 1.000 NULL pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 35 20 36.36 38 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39850476 39850476 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 39850476 39850476 C T SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.3334 p.E1112K 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 52 14 20.90 46 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39851196 39851196 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 39851196 39851196 C T SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.3163 p.E1055K 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 58 51 46.79 65 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39868518 39868518 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 39868518 39868518 C A SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.2605 p.V869F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 22 4 15.38 23 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39868556 39868556 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 4 39868556 39868556 G C SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.2567 p.S856C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 20 11 35.48 47 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39905724 39905724 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39905724 39905724 C G SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.1321 p.E441Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 33 5 13.16 36 0 0.00 PDS5A 23244 genome.wustl.edu 37 4 39924314 39924314 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 39924314 39924314 G A SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 26 8 23.53 34 0 0.00 PDS5B 23047 genome.wustl.edu 37 13 33222994 33222994 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 33222994 33222994 G C SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.85 p.E29Q 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 32 9 21.95 53 0 0.00 PDS5B 23047 genome.wustl.edu 37 13 33232590 33232590 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 33232590 33232590 C T SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.419 p.S140L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 26 6 18.75 44 0 0.00 PDS5B 23047 genome.wustl.edu 37 13 33261335 33261335 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 33261335 33261335 C T SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.1268 p.S423L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 31 14 31.11 57 0 0.00 PDSS1 23590 genome.wustl.edu 37 10 27009280 27009280 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 27009280 27009280 G A SNP PDSS1 ENST00000376215 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 28 4 12.50 29 0 0.00 PDSS2 57107 genome.wustl.edu 37 6 107780455 107780455 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 107780455 107780455 C G SNP PDSS2 ENST00000369037 human ensembl 70_37 -1 known missense c.35 p.R12P 0.028 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 31 19 38.00 43 0 0.00 PDSS2 57107 genome.wustl.edu 37 6 107780477 107780477 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 107780477 107780477 G A SNP PDSS2 ENST00000369037 human ensembl 70_37 -1 known nonsense c.13 p.Q5* 0.999 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 33 7 17.50 52 0 0.00 PDX1 3651 genome.wustl.edu 37 13 28498509 28498509 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 13 28498509 28498509 C T SNP PDX1 ENST00000381033 human ensembl 70_37 +1 known missense c.523 p.R175C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 9 17 65.38 53 0 0.00 PDXDC1 23042 genome.wustl.edu 37 16 15120537 15120537 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 15120537 15120537 G A SNP PDXDC1 ENST00000396410 human ensembl 70_37 +1 known missense c.1178 p.R393K 0.999 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors PDXDC1 HGNC ENSG00000179889 132 18 12.00 153 0 0.00 PDXDC2P 283970 genome.wustl.edu 37 16 70055830 70055830 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 70055830 70055830 G C SNP PDXDC2P ENST00000525331 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 81 21 20.39 104 0 0.00 PDXDC2P 283970 genome.wustl.edu 37 16 70068259 70068259 + RNA SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 70068259 70068259 C A SNP PDXDC2P ENST00000529089 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 62 16 20.51 69 0 0.00 PDXK 8566 genome.wustl.edu 37 21 45165934 45165934 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 45165934 45165934 G A SNP PDXK ENST00000468392 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PDXK HGNC ENSG00000160209 54 12 18.18 85 0 0.00 PDXK 8566 genome.wustl.edu 37 21 45176055 45176055 + RNA SNP C C G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 21 45176055 45176055 C G SNP PDXK ENST00000343528 human ensembl 70_37 +1 known rna NULL NULL 0.236 - - - no_errors PDXK HGNC ENSG00000160209 31 24 42.86 72 0 0.00 PDXK 8566 genome.wustl.edu 37 21 45176059 45176059 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 45176059 45176059 C T SNP PDXK ENST00000343528 human ensembl 70_37 +1 known rna NULL NULL 0.250 - - - no_errors PDXK HGNC ENSG00000160209 40 6 13.04 56 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 31799444 31799444 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 31799444 31799444 C T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.89 p.P30L 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 29 12 29.27 56 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32048674 32048674 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 32048674 32048674 G A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.1549 p.E517K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 55 43 43.88 76 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32053919 32053919 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 32053919 32053919 A G SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.1830 p.G610 0.945 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 29 22 43.14 66 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32074402 32074402 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 32074402 32074402 G T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known nonsense c.3190 p.E1064* 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 43 14 24.56 41 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32088583 32088583 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 32088583 32088583 G A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.5029 p.E1677K 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 113 86 43.22 179 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32088709 32088709 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 32088709 32088709 C A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.5155 p.H1719N 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 30 23 43.40 45 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32089653 32089653 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 32089653 32089653 C T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.6099 p.S2033 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 25 28 52.83 20 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32089706 32089706 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 32089706 32089706 G C SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.6152 p.R2051T 0.009 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 13 7 35.00 10 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32091009 32091009 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 32091009 32091009 G C SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.7455 p.L2485 0.980 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 20 16 44.44 25 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32091059 32091059 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 32091059 32091059 C G SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known nonsense c.7505 p.S2502* 0.031 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 121 42 25.77 189 0 0.00 PDZD2 23037 genome.wustl.edu 37 5 32110196 32110196 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 32110196 32110196 C G SNP PDZD2 ENST00000513490 human ensembl 70_37 +1 known rna NULL NULL 0.985 - - - no_errors PDZD2 HGNC ENSG00000133401 100 86 45.99 127 0 0.00 PDZD3 79849 genome.wustl.edu 37 11 119057178 119057178 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 119057178 119057178 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.307 p.H103Y 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 9 4 30.77 51 0 0.00 PDZD3 79849 genome.wustl.edu 37 11 119058009 119058009 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 119058009 119058009 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.559 p.R187W 0.983 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 38 11 22.45 47 0 0.00 PDZD3 79849 genome.wustl.edu 37 11 119059398 119059398 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119059398 119059398 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.1307 p.S436L 0.003 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 75 29 27.88 150 0 0.00 PDZD4 57595 genome.wustl.edu 37 X 153069804 153069804 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153069804 153069804 C G SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.1314 p.E438D 0.783 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 36 18 33.33 77 0 0.00 PDZD4 57595 genome.wustl.edu 37 X 153069983 153069983 + Silent SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 153069983 153069983 G T SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known silent c.1135 p.R379 0.021 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 30 44 59.46 44 0 0.00 PDZD4 57595 genome.wustl.edu 37 X 153070078 153070078 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 153070078 153070078 G A SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.1040 p.P347L 0.410 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 16 11 40.74 32 0 0.00 PDZD4 57595 genome.wustl.edu 37 X 153072748 153072748 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153072748 153072748 C T SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 24 14 36.84 50 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102770315 102770315 + RNA SNP A A G TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 10 102770315 102770315 A G SNP PDZD7 ENST00000474125 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors PDZD7 HGNC ENSG00000186862 22 7 24.14 14 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102770465 102770465 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 102770465 102770465 G T SNP PDZD7 ENST00000474125 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDZD7 HGNC ENSG00000186862 21 7 25.00 22 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102771481 102771481 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 102771481 102771481 C G SNP PDZD7 ENST00000474125 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors PDZD7 HGNC ENSG00000186862 49 11 18.33 43 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102778905 102778905 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 102778905 102778905 G A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.998 p.S333F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 2 9 81.82 12 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102778941 102778941 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 102778941 102778941 G T SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.962 p.A321D 0.988 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 10 3 23.08 22 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102780424 102780424 + Silent SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 102780424 102780424 C A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known silent c.879 p.R293 0.962 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 75 38 33.63 99 0 0.00 PDZD7 79955 genome.wustl.edu 37 10 102783339 102783339 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102783339 102783339 C A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.396 p.K132N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 12 12 50.00 42 0 0.00 PDZD8 118987 genome.wustl.edu 37 10 119043870 119043870 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 119043870 119043870 G C SNP PDZD8 ENST00000334464 human ensembl 70_37 -1 known missense c.2374 p.H792D 0.425 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 17 14 45.16 18 0 0.00 PDZD9 255762 genome.wustl.edu 37 16 21995716 21995716 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21995716 21995716 A G SNP PDZD9 ENST00000424898 human ensembl 70_37 -1 known missense c.667 p.W223R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 84 14 14.29 164 0 0.00 PDZK1 5174 genome.wustl.edu 37 1 145747058 145747058 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 145747058 145747058 C T SNP PDZK1 ENST00000344770 human ensembl 70_37 +1 known silent c.15 p.F5 0.832 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 37 10 21.28 29 0 0.00 PDZK1 5174 genome.wustl.edu 37 1 145763451 145763454 + RNA DEL GAAA GAAA - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 145763451 145763454 GAAA - DEL PDZK1 ENST00000465595 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001:0.002:0.001 - - - no_errors PDZK1 HGNC ENSG00000174827 1 3 75.00 9 0 0.00 PDZK1 5174 genome.wustl.edu 37 1 145763595 145763595 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 145763595 145763595 C T SNP PDZK1 ENST00000344770 human ensembl 70_37 +1 known missense c.1532 p.S511F 0.948 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 36 19 34.55 65 0 0.00 PDZK1IP1 10158 genome.wustl.edu 37 1 47650858 47650858 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 47650858 47650858 G A SNP PDZK1IP1 ENST00000491793 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors PDZK1IP1 HGNC ENSG00000162366 9 16 64.00 19 0 0.00 PDZRN3 23024 genome.wustl.edu 37 3 73450114 73450114 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 73450114 73450114 C T SNP PDZRN3 ENST00000263666 human ensembl 70_37 -1 known missense c.1213 p.D405N 0.998 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 24 27 52.94 49 0 0.00 PDZRN3 23024 genome.wustl.edu 37 3 73453428 73453428 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 73453428 73453428 G A SNP PDZRN3 ENST00000263666 human ensembl 70_37 -1 known missense c.1037 p.T346M 0.988 superfamily_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 75 20 21.05 90 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41582515 41582515 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 41582515 41582515 C T SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known silent c.258 p.R86 1.000 superfamily_TRAF-like pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 19 21 52.50 21 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41582515 41582515 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 41582515 41582515 C T SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known silent c.258 p.R86 1.000 superfamily_TRAF-like pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 5 7 58.33 11 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41871723 41871723 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 41871723 41871723 G C SNP PDZRN4 ENST00000298919 human ensembl 70_37 +1 known splice_site c.63+1 e2+1 0.002 - - - no_errors PDZRN4 HGNC ENSG00000165966 58 28 32.56 68 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41961654 41961654 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 41961654 41961654 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.1537 p.E513K 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 17 13 43.33 60 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 41966808 41966808 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.2227 p.E743K 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 17 4 19.05 29 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41966994 41966994 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 41966994 41966994 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.2413 p.E805K 0.998 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 25 11 30.56 30 0 0.00 PDZRN4 29951 genome.wustl.edu 37 12 41967170 41967170 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 41967170 41967170 C T SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known silent c.2589 p.V863 0.992 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 13 6 31.58 24 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77406906 77406906 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 77406906 77406906 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.4833 p.E1611 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 46 44 48.89 93 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77407290 77407290 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 77407290 77407290 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.4449 p.G1483 0.028 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 35 7 16.67 55 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77426003 77426003 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 77426003 77426003 C G SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.3421 p.D1141H 0.994 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 107 17 13.71 98 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77426049 77426049 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 77426049 77426049 C A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.3375 p.Q1125H 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 90 13 12.62 102 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77472802 77472802 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 77472802 77472802 G A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.1467 p.L489 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 111 232 67.44 192 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77472802 77472802 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 15 77472802 77472802 G A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.1467 p.L489 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 32 66 67.35 34 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77473482 77473482 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 77473482 77473482 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 12 8 40.00 26 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77473769 77473769 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77473769 77473769 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.500 p.G167E 0.754 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 65 26 28.57 83 0 0.00 PEAK1 79834 genome.wustl.edu 37 15 77474169 77474169 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 77474169 77474169 C G SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.100 p.E34Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename ENSG00000173517 71 23 24.47 86 0 0.00 PEAR1 375033 genome.wustl.edu 37 1 156875139 156875139 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 156875139 156875139 G A SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.230 p.R77H 0.990 superfamily_Growth_fac_rcpt,pfscan_EMI_domain pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 72 16 18.18 54 0 0.00 PEAR1 375033 genome.wustl.edu 37 1 156879698 156879698 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 156879698 156879698 C T SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.1567 p.P523S 0.964 superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 23 9 28.12 31 0 0.00 PEAR1 375033 genome.wustl.edu 37 1 156883832 156883832 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 156883832 156883832 C T SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.2902 p.R968W 0.015 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 49 47 48.96 57 0 0.00 PEAR1 375033 genome.wustl.edu 37 1 156884502 156884502 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156884502 156884502 C G SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known nonsense c.3026 p.S1009* 0.994 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 77 34 30.36 66 0 0.00 PEBP4 157310 genome.wustl.edu 37 8 22582443 22582443 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 8 22582443 22582443 G A SNP PEBP4 ENST00000256404 human ensembl 70_37 -1 known missense c.430 p.H144Y 0.000 pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP4 HGNC ENSG00000134020 35 4 10.26 51 0 0.00 PECR 55825 genome.wustl.edu 37 2 216930051 216930051 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 216930051 216930051 G A SNP PECR ENST00000265322 human ensembl 70_37 -1 known silent c.408 p.F136 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_NADP_OxRdtase_F420,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors PECR HGNC ENSG00000115425 31 10 24.39 58 0 0.00 PEF1 553115 genome.wustl.edu 37 1 32098193 32098193 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 32098193 32098193 G C SNP PEF1 ENST00000373703 human ensembl 70_37 -1 known missense c.528 p.F176L 1.000 smart_EF_hand_Ca-bd pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors PEF1 HGNC ENSG00000162517 30 27 46.55 56 0 0.00 PEG10 23089 genome.wustl.edu 37 7 94292667 94292667 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 94292667 94292667 A - DEL PEG10 ENST00000493935 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors PEG10 HGNC ENSG00000242265 10 2 16.67 20 0 0.00 PEG10 23089 genome.wustl.edu 37 7 94298361 94298361 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 94298361 94298361 G A SNP PEG10 ENST00000465184 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PEG10 HGNC ENSG00000242265 27 14 34.15 36 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57325574 57325574 + Missense_Mutation SNP T T G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 57325574 57325574 T G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.4236 p.E1412D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 57 10 14.93 83 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57325989 57325989 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 57325989 57325989 C G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.3821 p.R1274T 0.901 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 25 9 26.47 30 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57326753 57326753 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 57326753 57326753 G A SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known silent c.3057 p.Y1019 0.005 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 39 9 18.75 29 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57328738 57328738 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 57328738 57328738 C T SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.886 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 10 9 47.37 24 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57328826 57328826 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 19 57328826 57328826 C T SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known silent c.984 p.S328 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 11 5 31.25 33 0 0.00 PEG3 5178 genome.wustl.edu 37 19 57333033 57333033 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 57333033 57333033 C G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.655 p.E219Q 0.013 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 45 15 25.00 69 0 0.00 PELI2 57161 genome.wustl.edu 37 14 56746461 56746461 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 56746461 56746461 A G SNP PELI2 ENST00000267460 human ensembl 70_37 +1 known missense c.275 p.E92G 1.000 pfam_Pellino pfam_Pellino - no_errors PELI2 HGNC ENSG00000139946 15 11 42.31 44 0 0.00 PELI3 246330 genome.wustl.edu 37 11 66238754 66238754 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 66238754 66238754 G A SNP PELI3 ENST00000320740 human ensembl 70_37 +1 known missense c.266 p.R89Q 0.988 pfam_Pellino pfam_Pellino - no_errors PELI3 HGNC ENSG00000174516 123 16 11.51 178 0 0.00 PELI3 246330 genome.wustl.edu 37 11 66240739 66240739 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 66240739 66240739 G A SNP PELI3 ENST00000320740 human ensembl 70_37 +1 known missense c.484 p.D162N 1.000 pfam_Pellino pfam_Pellino - no_errors PELI3 HGNC ENSG00000174516 95 47 32.87 88 0 0.00 PELO 53918 genome.wustl.edu 37 5 52096723 52096723 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 52096723 52096723 G A SNP PELO ENST00000274311 human ensembl 70_37 +1 known silent c.495 p.V165 1.000 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 17 14 45.16 28 0 0.00 PELO 53918 genome.wustl.edu 37 5 52097658 52097658 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 52097658 52097658 G C SNP PELO ENST00000274311 human ensembl 70_37 +1 known missense c.1142 p.S381T 1.000 NULL pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 40 18 31.03 45 0 0.00 PELP1 27043 genome.wustl.edu 37 17 4576054 4576054 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 4576054 4576054 C T SNP PELP1 ENST00000301396 human ensembl 70_37 -1 known silent c.2664 p.G888 0.993 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 11 6 35.29 23 0 0.00 PEMT 10400 genome.wustl.edu 37 17 17412829 17412829 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17412829 17412829 C T SNP PEMT ENST00000255389 human ensembl 70_37 -1 known missense c.497 p.R166K 1.000 pfam_PEMT,pirsf_PEMT/MFAP pfam_PEMT,pirsf_PEMT/MFAP - no_errors PEMT HGNC ENSG00000133027 64 31 32.63 64 0 0.00 PEPD 5184 genome.wustl.edu 37 19 33878885 33878885 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 33878885 33878885 C T SNP PEPD ENST00000244137 human ensembl 70_37 -1 known missense c.1255 p.D419N 0.997 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 26 3 10.34 23 0 0.00 PEPD 5184 genome.wustl.edu 37 19 33904546 33904546 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 33904546 33904546 G A SNP PEPD ENST00000244137 human ensembl 70_37 -1 known silent c.675 p.L225 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 107 13 10.83 69 0 0.00 PER1 5187 genome.wustl.edu 37 17 8045610 8045610 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 8045610 8045610 C T SNP PER1 ENST00000317276 human ensembl 70_37 -1 known missense c.3426 p.M1142I 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 6 5 45.45 12 0 0.00 PER1 5187 genome.wustl.edu 37 17 8046090 8046090 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8046090 8046090 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.3136 p.L1046 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 26 28 51.85 40 0 0.00 PER1 5187 genome.wustl.edu 37 17 8050296 8050296 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8050296 8050296 C T SNP PER1 ENST00000317276 human ensembl 70_37 -1 known missense c.1654 p.D552N 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 18 10 35.71 30 0 0.00 PER1 5187 genome.wustl.edu 37 17 8050872 8050872 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8050872 8050872 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.1413 p.F471 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 59 22 27.16 85 0 0.00 PER1 5187 genome.wustl.edu 37 17 8051105 8051105 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 8051105 8051105 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.1275 p.I425 0.892 pfam_PAS_fold_3 pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 34 17 33.33 51 0 0.00 PER1 5187 genome.wustl.edu 37 17 8053162 8053162 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 17 8053162 8053162 C G SNP PER1 ENST00000317276 human ensembl 70_37 -1 known missense c.562 p.E188Q 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 27 14 34.15 63 0 0.00 PER2 8864 genome.wustl.edu 37 2 239161691 239161691 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 239161691 239161691 G A SNP PER2 ENST00000254657 human ensembl 70_37 -1 known silent c.2973 p.L991 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 23 24 51.06 59 0 0.00 PER2 8864 genome.wustl.edu 37 2 239180028 239180028 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 239180028 239180028 G A SNP PER2 ENST00000254657 human ensembl 70_37 -1 known missense c.697 p.P233S 1.000 smart_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 15 12 44.44 44 0 0.00 PER3 8863 genome.wustl.edu 37 1 7863191 7863191 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7863191 7863191 G C SNP PER3 ENST00000361923 human ensembl 70_37 +1 known silent c.954 p.L318 0.984 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 40 30 42.86 71 0 0.00 PER3 8863 genome.wustl.edu 37 1 7880210 7880210 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 7880210 7880210 G T SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.1670 p.R557I 0.995 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 13 3 18.75 28 0 0.00 PER3 8863 genome.wustl.edu 37 1 7880694 7880694 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 7880694 7880694 G A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.1927 p.E643K 0.920 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 32 15 31.25 30 0 0.00 PER3 8863 genome.wustl.edu 37 1 7890188 7890188 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 7890188 7890188 G A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3154 p.E1052K 0.005 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 80 12 12.90 69 0 0.00 PER3 8863 genome.wustl.edu 37 1 7895914 7895914 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 7895914 7895914 G C SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3280 p.E1094Q 0.001 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 60 21 25.93 86 0 0.00 PER3 8863 genome.wustl.edu 37 1 7895971 7895971 + Nonsense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 7895971 7895971 G T SNP PER3 ENST00000361923 human ensembl 70_37 +1 known nonsense c.3337 p.E1113* 0.287 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 20 4 16.67 27 0 0.00 PER3 8863 genome.wustl.edu 37 1 7897130 7897130 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 7897130 7897130 C A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3443 p.S1148Y 0.946 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 10 13 56.52 51 0 0.00 PER3 8863 genome.wustl.edu 37 1 7897139 7897139 + Frame_Shift_Del DEL A A - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 7897139 7897139 A - DEL PER3 ENST00000361923 human ensembl 70_37 +1 known frame_shift_del c.3452 p.K1152fs 0.998 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 47 36 43.37 55 0 0.00 PERP 64065 genome.wustl.edu 37 6 138428294 138428294 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 138428294 138428294 C T SNP PERP ENST00000421351 human ensembl 70_37 -1 known missense c.184 p.E62K 0.007 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 58 22 27.50 118 0 0.00 PES1 23481 genome.wustl.edu 37 22 30975182 30975182 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 30975182 30975182 G A SNP PES1 ENST00000354694 human ensembl 70_37 -1 known missense c.1463 p.S488L 0.157 NULL pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 14 3 17.65 24 0 0.00 PET112 5188 genome.wustl.edu 37 4 152622537 152622537 + Nonsense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 152622537 152622537 G A SNP PET112 ENST00000263985 human ensembl 70_37 -1 known nonsense c.1141 p.R381* 1.000 superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 28 17 37.78 38 0 0.00 PET112 5188 genome.wustl.edu 37 4 152640600 152640600 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 152640600 152640600 G A SNP PET112 ENST00000263985 human ensembl 70_37 -1 known missense c.418 p.H140Y 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 37 24 39.34 42 0 0.00 PET117 100303755 genome.wustl.edu 37 20 18122908 18122908 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 18122908 18122908 C T SNP PET117 ENST00000432901 human ensembl 70_37 +1 known silent c.153 p.N51 0.999 NULL NULL - no_errors PET117 HGNC ENSG00000232838 75 26 25.74 65 0 0.00 PEX11A 8800 genome.wustl.edu 37 15 90226789 90226789 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 90226789 90226789 A G SNP PEX11A ENST00000300056 human ensembl 70_37 -1 known missense c.563 p.L188P 0.976 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 38 20 34.48 58 0 0.00 PEX11A 8800 genome.wustl.edu 37 15 90233900 90233900 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 90233900 90233900 C G SNP PEX11A ENST00000557982 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PEX11A HGNC ENSG00000166821 35 6 14.63 85 0 0.00 PEX11A 8800 genome.wustl.edu 37 15 90233993 90233993 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 90233993 90233993 G C SNP PEX11A ENST00000557982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PEX11A HGNC ENSG00000166821 5 7 58.33 17 0 0.00 PEX12 5193 genome.wustl.edu 37 17 33904559 33904559 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 33904559 33904559 C G SNP PEX12 ENST00000225873 human ensembl 70_37 -1 known missense c.178 p.D60H 1.000 pfam_Pex_N,pirsf_PEX12 pfam_Pex_N,pirsf_PEX12 - no_errors PEX12 HGNC ENSG00000108733 149 93 38.11 249 0 0.00 PEX14 5195 genome.wustl.edu 37 1 10678417 10678417 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 10678417 10678417 C T SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known silent c.327 p.Y109 0.961 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 20 4 16.67 25 0 0.00 PEX14 5195 genome.wustl.edu 37 1 10689808 10689808 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 10689808 10689808 G A SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known missense c.898 p.E300K 0.947 NULL pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 24 12 33.33 32 0 0.00 PEX14 5195 genome.wustl.edu 37 1 10689811 10689811 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 10689811 10689811 G C SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known missense c.901 p.G301R 0.988 NULL pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 12 3 20.00 14 0 0.00 PEX19 5824 genome.wustl.edu 37 1 160249105 160249105 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160249105 160249105 G C SNP PEX19 ENST00000532508 human ensembl 70_37 -1 known rna NULL NULL 0.762 - - - no_errors PEX19 HGNC ENSG00000162735 35 10 22.22 38 0 0.00 PEX19 5824 genome.wustl.edu 37 1 160249182 160249182 + RNA DEL G G - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160249182 160249182 G - DEL PEX19 ENST00000532508 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors PEX19 HGNC ENSG00000162735 36 19 34.55 47 0 0.00 PEX2 5828 genome.wustl.edu 37 8 77895827 77895827 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 77895827 77895827 G C SNP PEX2 ENST00000357039 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 52 7 11.86 33 0 0.00 PEX2 5828 genome.wustl.edu 37 8 77912230 77912230 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 77912230 77912230 G T SNP PEX2 ENST00000520203 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors PEX2 HGNC ENSG00000164751 72 9 11.11 77 0 0.00 PEX5 5830 genome.wustl.edu 37 12 7356091 7356091 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7356091 7356091 G A SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known missense c.955 p.E319K 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 56 23 29.11 75 0 0.00 PEX5 5830 genome.wustl.edu 37 12 7360372 7360372 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 7360372 7360372 G T SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known missense c.1129 p.V377L 1.000 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 22 4 15.38 37 0 0.00 PEX5 5830 genome.wustl.edu 37 12 7361104 7361104 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7361104 7361104 G C SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known silent c.1278 p.V426 0.327 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 26 17 38.64 76 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179526207 179526207 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 179526207 179526207 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known silent c.1371 p.V457 0.999 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 58 7 10.77 43 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179533760 179533760 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 179533760 179533760 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known silent c.972 p.K324 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 56 9 13.85 22 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179576852 179576852 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 179576852 179576852 C G SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.820 p.E274Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 38 8 17.39 34 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179593161 179593161 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 179593161 179593161 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.610 p.G204R 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 113 260 69.33 210 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179593166 179593166 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 179593166 179593166 C G SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.605 p.R202T 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 134 16 10.67 118 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179593175 179593175 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 179593175 179593175 G A SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.596 p.S199F 0.976 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 29 21 42.00 96 0 0.00 PEX5L 51555 genome.wustl.edu 37 3 179754389 179754389 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 179754389 179754389 C T SNP PEX5L ENST00000474909 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PEX5L HGNC ENSG00000114757 43 11 20.37 39 0 0.00 PEX6 5190 genome.wustl.edu 37 6 42935173 42935173 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 42935173 42935173 C T SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1817 p.R606Q 0.216 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 53 24 31.17 52 0 0.00 PEX6 5190 genome.wustl.edu 37 6 42935238 42935238 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 42935238 42935238 C G SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1752 p.Q584H 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 44 32 42.11 46 0 0.00 PEX6 5190 genome.wustl.edu 37 6 42936212 42936212 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 42936212 42936212 C T SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1504 p.E502K 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 38 22 36.67 50 0 0.00 PEX6 5190 genome.wustl.edu 37 6 42942701 42942701 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 42942701 42942701 C G SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.958 p.E320Q 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 3 24 88.89 68 0 0.00 PFAS 5198 genome.wustl.edu 37 17 8159596 8159596 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 8159596 8159596 G T SNP PFAS ENST00000314666 human ensembl 70_37 +1 known missense c.692 p.R231L 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 30 4 11.76 46 0 0.00 PFAS 5198 genome.wustl.edu 37 17 8161487 8161487 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 8161487 8161487 G C SNP PFAS ENST00000314666 human ensembl 70_37 +1 known missense c.1306 p.D436H 0.073 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 14 19 57.58 26 0 0.00 PFDN1 5201 genome.wustl.edu 37 5 139680016 139680016 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139680016 139680016 T C SNP PFDN1 ENST00000261813 human ensembl 70_37 -1 known missense c.185 p.E62G 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN1 HGNC ENSG00000113068 45 31 40.79 99 0 0.00 PFDN2 5202 genome.wustl.edu 37 1 161072116 161072116 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 161072116 161072116 G T SNP PFDN2 ENST00000368010 human ensembl 70_37 -1 known missense c.125 p.S42Y 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN2 HGNC ENSG00000143256 116 34 22.67 172 0 0.00 PFDN4 5203 genome.wustl.edu 37 20 52835609 52835609 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 52835609 52835609 C T SNP PFDN4 ENST00000441080 human ensembl 70_37 +1 known nonsense c.325 p.Q109* 1.000 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4 - no_errors PFDN4 HGNC ENSG00000101132 85 40 32.00 140 0 0.00 PFDN5 5204 genome.wustl.edu 37 12 53689722 53689722 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 53689722 53689722 G A SNP PFDN5 ENST00000551018 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC ENSG00000123349 46 29 38.67 54 0 0.00 PFDN5 5204 genome.wustl.edu 37 12 53691642 53691642 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53691642 53691642 C T SNP PFDN5 ENST00000243040 human ensembl 70_37 +1 known missense c.184 p.P62S 1.000 NULL superfamily_Prefoldin - no_errors PFDN5 HGNC ENSG00000123349 43 32 42.67 115 0 0.00 PFDN6 10471 genome.wustl.edu 37 6 33258518 33258518 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 33258518 33258518 G A SNP PFDN6 ENST00000374606 human ensembl 70_37 +1 known missense c.286 p.D96N 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN6 HGNC ENSG00000204220 27 8 22.86 52 0 0.00 PFKFB1 5207 genome.wustl.edu 37 X 54982618 54982618 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 54982618 54982618 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known silent c.606 p.V202 0.645 pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 122 34 21.79 134 0 0.00 PFKFB1 5207 genome.wustl.edu 37 X 54984742 54984742 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 54984742 54984742 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known silent c.513 p.I171 0.997 pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 52 23 30.67 69 0 0.00 PFKFB1 5207 genome.wustl.edu 37 X 54985325 54985325 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 54985325 54985325 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known missense c.418 p.R140W 0.936 pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 72 42 36.84 141 0 0.00 PFKFB2 5208 genome.wustl.edu 37 1 207237151 207237151 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207237151 207237151 G A SNP PFKFB2 ENST00000367080 human ensembl 70_37 +1 known missense c.484 p.D162N 1.000 pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 149 26 14.86 131 0 0.00 PFKL 5211 genome.wustl.edu 37 21 45733844 45733844 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 21 45733844 45733844 C T SNP PFKL ENST00000403390 human ensembl 70_37 +1 known silent c.828 p.F276 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 104 83 44.39 151 1 0.66 PFKL 5211 genome.wustl.edu 37 21 45736150 45736150 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 45736150 45736150 G A SNP PFKL ENST00000403390 human ensembl 70_37 +1 known silent c.912 p.L304 0.984 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 127 28 18.06 161 0 0.00 PFKM 5213 genome.wustl.edu 37 12 48528576 48528576 + Silent SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 12 48528576 48528576 C T SNP PFKM ENST00000312352 human ensembl 70_37 +1 known silent c.711 p.D237 0.931 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 96 36 27.27 132 0 0.00 PFKP 5214 genome.wustl.edu 37 10 3147455 3147455 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 3147455 3147455 C A SNP PFKP ENST00000460445 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PFKP HGNC ENSG00000067057 25 6 19.35 41 0 0.00 PFN4 375189 genome.wustl.edu 37 2 24338428 24338428 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 24338428 24338428 T G SNP PFN4 ENST00000465360 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PFN4 HGNC ENSG00000176732 39 8 17.02 44 0 0.00 PFN4 375189 genome.wustl.edu 37 2 24345292 24345292 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 24345292 24345292 G A SNP PFN4 ENST00000313213 human ensembl 70_37 -1 known silent c.114 p.F38 0.861 pfam_Profilin,superfamily_Profilin,smart_Profilin pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin - no_errors PFN4 HGNC ENSG00000176732 25 19 43.18 46 0 0.00 PGAM1 5223 genome.wustl.edu 37 10 99190814 99190814 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 99190814 99190814 C T SNP PGAM1 ENST00000334828 human ensembl 70_37 +1 known missense c.517 p.P173S 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM1 HGNC ENSG00000171314 122 22 15.28 135 0 0.00 PGAM2 5224 genome.wustl.edu 37 7 44104528 44104528 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 44104528 44104528 G A SNP PGAM2 ENST00000297283 human ensembl 70_37 -1 known silent c.498 p.F166 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC ENSG00000164708 53 16 23.19 71 0 0.00 PGAM2 5224 genome.wustl.edu 37 7 44104591 44104591 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44104591 44104591 C T SNP PGAM2 ENST00000297283 human ensembl 70_37 -1 known silent c.435 p.L145 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC ENSG00000164708 37 25 40.32 69 0 0.00 PGAM5 192111 genome.wustl.edu 37 12 133297420 133297420 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133297420 133297420 C T SNP PGAM5 ENST00000541034 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PGAM5 HGNC ENSG00000247077 68 36 34.62 90 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197737724 197737724 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 197737724 197737724 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.1579 p.H527Y 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 19 10 34.48 28 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197744874 197744874 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 197744874 197744874 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known silent c.1276 p.L426 0.998 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 27 11 28.95 35 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197750186 197750186 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 197750186 197750186 C T SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.1234 p.D412N 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 40 13 24.53 72 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197777621 197777621 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 197777621 197777621 C T SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.634 p.D212N 1.000 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 23 17 41.46 56 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197784868 197784868 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 197784868 197784868 C G SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.154 p.E52Q 0.998 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 76 21 21.65 92 0 0.00 PGAP1 80055 genome.wustl.edu 37 2 197791251 197791251 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197791251 197791251 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known silent c.90 p.F30 0.995 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 36 21 36.84 60 0 0.00 PGAP2 27315 genome.wustl.edu 37 11 3846311 3846311 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 3846311 3846311 C T SNP PGAP2 ENST00000278243 human ensembl 70_37 +1 known missense c.770 p.S257L 0.991 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 65 26 28.57 68 0 0.00 PGBD1 84547 genome.wustl.edu 37 6 28254871 28254871 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28254871 28254871 G A SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.568 p.G190R 0.005 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 9 61 87.14 76 0 0.00 PGBD1 84547 genome.wustl.edu 37 6 28269029 28269029 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28269029 28269029 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1398 p.L466F 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 38 11 22.45 53 0 0.00 PGBD1 84547 genome.wustl.edu 37 6 28269225 28269225 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 28269225 28269225 A C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1594 p.N532H 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 10 9 47.37 30 0 0.00 PGBD1 84547 genome.wustl.edu 37 6 28269414 28269414 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 28269414 28269414 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1783 p.D595H 0.177 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 46 11 19.30 24 0 0.00 PGBD1 84547 genome.wustl.edu 37 6 28269414 28269414 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 28269414 28269414 G C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1783 p.D595H 0.177 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 66 23 25.56 269 0 0.00 PGBD2 267002 genome.wustl.edu 37 1 249212358 249212358 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 249212358 249212358 G A SNP PGBD2 ENST00000329291 human ensembl 70_37 +1 known silent c.1575 p.L525 0.977 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 62 9 12.68 60 0 0.00 PGBD4 161779 genome.wustl.edu 37 15 34395013 34395013 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 34395013 34395013 G A SNP PGBD4 ENST00000397766 human ensembl 70_37 +1 known missense c.281 p.R94K 0.236 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 21 11 34.38 23 0 0.00 PGBD5 79605 genome.wustl.edu 37 1 230486791 230486791 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 230486791 230486791 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known silent c.897 p.T299 0.644 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 87 50 36.50 57 0 0.00 PGBD5 79605 genome.wustl.edu 37 1 230486817 230486817 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 230486817 230486817 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known missense c.871 p.D291N 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 94 46 32.86 67 0 0.00 PGBD5 79605 genome.wustl.edu 37 1 230486821 230486821 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 230486821 230486821 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known silent c.867 p.L289 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 86 17 16.50 75 0 0.00 PGBD5 79605 genome.wustl.edu 37 1 230492790 230492790 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 230492790 230492790 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known missense c.699 p.M233I 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 123 18 12.77 101 1 0.98 PGBD5 79605 genome.wustl.edu 37 1 230493034 230493034 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 230493034 230493034 G A SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known missense c.455 p.A152V 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 11 4 26.67 22 0 0.00 PGCP1 441897 genome.wustl.edu 37 1 111927180 111927180 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111927180 111927180 C T SNP PGCP1 ENST00000411951 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors PGCP1 HGNC ENSG00000227179 39 9 18.75 46 0 0.00 PGCP1 441897 genome.wustl.edu 37 1 111927180 111927180 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 111927180 111927180 C T SNP PGCP1 ENST00000411951 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors PGCP1 HGNC ENSG00000227179 42 10 19.23 36 0 0.00 PGCP1 441897 genome.wustl.edu 37 1 111932468 111932468 + RNA SNP G G T TCGA-EK-A2RM-01A-21D-A18J-09 TCGA-EK-A2RM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 801e67c8-c506-410a-bdf0-856a66e974f4 b2a9b6b3-8ae5-4da7-ae2e-02cb5b0390b2 1 111932468 111932468 G T SNP PGCP1 ENST00000411951 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PGCP1 HGNC ENSG00000227179 40 8 16.67 39 0 0.00 PGD 5226 genome.wustl.edu 37 1 10460491 10460491 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 10460491 10460491 C A SNP PGD ENST00000270776 human ensembl 70_37 +1 known missense c.126 p.F42L 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 27 9 25.00 59 0 0.00 PGD 5226 genome.wustl.edu 37 1 10464329 10464329 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 10464329 10464329 G C SNP PGD ENST00000270776 human ensembl 70_37 +1 known missense c.442 p.E148Q 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 67 15 18.29 92 0 0.00 PGGT1B 5229 genome.wustl.edu 37 5 114598462 114598462 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 114598462 114598462 G A SNP PGGT1B ENST00000419445 human ensembl 70_37 -1 known silent c.87 p.F29 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 28 18 39.13 52 0 0.00 PGK1 5230 genome.wustl.edu 37 X 77378488 77378488 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 77378488 77378488 G A SNP PGK1 ENST00000474281 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC ENSG00000102144 35 22 38.60 57 0 0.00 PGK1 5230 genome.wustl.edu 37 X 77378713 77378713 + Nonsense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 77378713 77378713 G T SNP PGK1 ENST00000373316 human ensembl 70_37 +1 known nonsense c.778 p.E260* 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 19 3 13.64 31 0 0.00 PGK1 5230 genome.wustl.edu 37 X 77380791 77380791 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 77380791 77380791 C T SNP PGK1 ENST00000476531 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC ENSG00000102144 10 20 66.67 60 0 0.00 PGK1 5230 genome.wustl.edu 37 X 77381488 77381488 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 77381488 77381488 C T SNP PGK1 ENST00000476531 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors PGK1 HGNC ENSG00000102144 17 10 37.04 36 0 0.00 PGK2 5232 genome.wustl.edu 37 6 49754286 49754286 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 49754286 49754286 C T SNP PGK2 ENST00000304801 human ensembl 70_37 -1 known silent c.615 p.V205 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 72 18 20.00 58 0 0.00 PGK2 5232 genome.wustl.edu 37 6 49754714 49754714 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 49754714 49754714 G A SNP PGK2 ENST00000304801 human ensembl 70_37 -1 known missense c.187 p.H63Y 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 31 23 42.59 51 0 0.00 PGLYRP1 8993 genome.wustl.edu 37 19 46522675 46522675 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46522675 46522675 G A SNP PGLYRP1 ENST00000008938 human ensembl 70_37 -1 known missense c.412 p.R138W 0.078 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 26 7 21.21 25 0 0.00 PGLYRP2 114770 genome.wustl.edu 37 19 15580365 15580365 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 15580365 15580365 G A SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known silent c.1719 p.A573 0.031 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 39 13 25.00 46 0 0.00 PGLYRP2 114770 genome.wustl.edu 37 19 15586353 15586353 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 15586353 15586353 G T SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known missense c.1128 p.F376L 1.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 32 4 11.11 27 0 0.00 PGLYRP2 114770 genome.wustl.edu 37 19 15587259 15587259 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 15587259 15587259 C T SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known nonsense c.222 p.W74* 0.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 44 31 41.33 43 0 0.00 PGLYRP4 57115 genome.wustl.edu 37 1 153312886 153312886 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 153312886 153312886 G C SNP PGLYRP4 ENST00000359650 human ensembl 70_37 -1 known missense c.795 p.D265E 0.574 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 35 14 27.45 36 0 0.00 PGM1 5236 genome.wustl.edu 37 1 64117280 64117280 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 64117280 64117280 G C SNP PGM1 ENST00000483707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PGM1 HGNC ENSG00000079739 30 24 44.44 44 0 0.00 PGM2 55276 genome.wustl.edu 37 4 37851828 37851828 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 37851828 37851828 C T SNP PGM2 ENST00000381967 human ensembl 70_37 +1 known missense c.1436 p.A479V 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 18 6 25.00 22 0 0.00 PGM2L1 283209 genome.wustl.edu 37 11 74053662 74053662 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74053662 74053662 G A SNP PGM2L1 ENST00000298198 human ensembl 70_37 -1 known silent c.1476 p.F492 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 57 25 30.49 77 0 0.00 PGM2L1 283209 genome.wustl.edu 37 11 74085555 74085555 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 74085555 74085555 A G SNP PGM2L1 ENST00000298198 human ensembl 70_37 -1 known missense c.184 p.C62R 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 24 20 45.45 90 0 0.00 PGM3 5238 genome.wustl.edu 37 6 83898421 83898421 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 83898421 83898421 C T SNP PGM3 ENST00000513973 human ensembl 70_37 -1 known missense c.301 p.D101N 0.848 superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 39 9 18.75 30 0 0.00 PGM5 5239 genome.wustl.edu 37 9 70999424 70999424 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 70999424 70999424 G T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known nonsense c.535 p.E179* 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 40 33 45.21 127 0 0.00 PGM5 5239 genome.wustl.edu 37 9 71002420 71002420 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 71002420 71002420 C T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known missense c.613 p.R205W 0.971 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 89 54 37.76 90 0 0.00 PGM5 5239 genome.wustl.edu 37 9 71098826 71098826 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 71098826 71098826 G A SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known missense c.1341 p.M447I 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 32 24 42.86 95 0 0.00 PGM5 5239 genome.wustl.edu 37 9 71098931 71098931 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 71098931 71098931 G T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known silent c.1446 p.V482 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 46 6 11.54 79 0 0.00 PGM5P2 595135 genome.wustl.edu 37 9 69113626 69113626 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 9 69113626 69113626 C T SNP PGM5P2 ENST00000591037 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PGM5P2 HGNC ENSG00000227558 147 45 23.20 107 0 0.00 PGR 5241 genome.wustl.edu 37 11 100909965 100909965 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 100909965 100909965 A C SNP PGR ENST00000325455 human ensembl 70_37 -1 known missense c.2684 p.F895C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 15 12 44.44 33 0 0.00 PGR 5241 genome.wustl.edu 37 11 100912793 100912793 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 100912793 100912793 C G SNP PGR ENST00000325455 human ensembl 70_37 -1 known missense c.2529 p.E843D 0.936 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 42 16 27.59 63 0 0.00 PGRMC1 10857 genome.wustl.edu 37 X 118370404 118370404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 118370404 118370404 C T SNP PGRMC1 ENST00000217971 human ensembl 70_37 +1 known silent c.78 p.F26 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors PGRMC1 HGNC ENSG00000101856 58 39 40.21 82 0 0.00 PGRMC1 10857 genome.wustl.edu 37 X 118370416 118370416 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 118370416 118370416 C T SNP PGRMC1 ENST00000217971 human ensembl 70_37 +1 known silent c.90 p.L30 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors PGRMC1 HGNC ENSG00000101856 61 32 34.41 83 0 0.00 PHACTR1 221692 genome.wustl.edu 37 6 13206350 13206350 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 13206350 13206350 C T SNP PHACTR1 ENST00000432934 human ensembl 70_37 +1 known missense c.1175 p.T392I 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 41 30 41.67 55 0 0.00 PHACTR2 9749 genome.wustl.edu 37 6 144086865 144086865 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 144086865 144086865 G A SNP PHACTR2 ENST00000440869 human ensembl 70_37 +1 known missense c.1162 p.E388K 0.820 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 154 51 24.88 219 0 0.00 PHACTR3 116154 genome.wustl.edu 37 20 58381200 58381200 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 58381200 58381200 G C SNP PHACTR3 ENST00000371015 human ensembl 70_37 +1 known missense c.1279 p.D427H 0.985 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 23 15 39.47 23 0 0.00 PHACTR4 65979 genome.wustl.edu 37 1 28696259 28696259 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 28696259 28696259 G A SNP PHACTR4 ENST00000463428 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PHACTR4 HGNC ENSG00000204138 71 14 16.47 74 0 0.00 PHACTR4 65979 genome.wustl.edu 37 1 28793215 28793215 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28793215 28793215 C T SNP PHACTR4 ENST00000373836 human ensembl 70_37 +1 known silent c.789 p.V263 0.761 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 9 7 43.75 16 0 0.00 PHACTR4 65979 genome.wustl.edu 37 1 28816356 28816356 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28816356 28816356 G A SNP PHACTR4 ENST00000493669 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PHACTR4 HGNC ENSG00000204138 78 34 30.36 77 0 0.00 PHACTR4 65979 genome.wustl.edu 37 1 28823241 28823241 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 28823241 28823241 G A SNP PHACTR4 ENST00000493669 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PHACTR4 HGNC ENSG00000204138 6 4 36.36 19 0 0.00 PHAX 51808 genome.wustl.edu 37 5 125939337 125939337 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 125939337 125939337 C T SNP PHAX ENST00000297540 human ensembl 70_37 +1 known nonsense c.172 p.R58* 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 34 17 33.33 77 0 0.00 PHB 5245 genome.wustl.edu 37 17 47486448 47486448 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 47486448 47486448 C T SNP PHB ENST00000300408 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 38 18 32.14 53 0 0.00 PHB2 11331 genome.wustl.edu 37 12 7077021 7077021 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7077021 7077021 C G SNP PHB2 ENST00000543465 human ensembl 70_37 -1 known nonstop c.641 p.*214S 0.007 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 26 20 43.48 42 0 0.00 PHB2 11331 genome.wustl.edu 37 12 7077636 7077636 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7077636 7077636 C G SNP PHB2 ENST00000399433 human ensembl 70_37 -1 known missense c.415 p.E139Q 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 37 38 50.67 76 0 0.00 PHC1 1911 genome.wustl.edu 37 12 9089552 9089552 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 9089552 9089552 C T SNP PHC1 ENST00000251757 human ensembl 70_37 +1 known silent c.2469 p.C823 0.918 pfam_Znf_MYM,pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 22 25 53.19 70 0 0.00 PHC1 1911 genome.wustl.edu 37 12 9089894 9089894 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 12 9089894 9089894 G A SNP PHC1 ENST00000251757 human ensembl 70_37 +1 known missense c.2600 p.R867H 0.999 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 2 13 86.67 10 0 0.00 PHC1 1911 genome.wustl.edu 37 12 9091972 9091972 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 9091972 9091972 G C SNP PHC1 ENST00000251757 human ensembl 70_37 +1 known missense c.2932 p.E978Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 73 13 15.12 68 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33789883 33789883 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33789883 33789883 C G SNP PHC2 ENST00000485928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PHC2 HGNC ENSG00000134686 29 24 45.28 40 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33789941 33789941 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33789941 33789941 C G SNP PHC2 ENST00000485928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PHC2 HGNC ENSG00000134686 24 19 44.19 35 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33794581 33794581 + Missense_Mutation SNP A A C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 33794581 33794581 A C SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.2315 p.L772R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 116 35 23.03 128 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33799839 33799839 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 33799839 33799839 G T SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.1613 p.T538N 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 33 4 10.81 28 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33832940 33832940 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 33832940 33832940 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known silent c.753 p.A251 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 53 9 14.52 58 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33833011 33833011 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33833011 33833011 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known nonsense c.682 p.R228* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 101 47 31.76 130 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33837992 33837992 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 33837992 33837992 C G SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.231 p.Q77H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 82 35 29.91 100 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33838043 33838043 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33838043 33838043 G C SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.180 p.I60M 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 20 122 85.92 88 0 0.00 PHC2 1912 genome.wustl.edu 37 1 33841026 33841026 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 33841026 33841026 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 18 12 40.00 42 0 0.00 PHC3 80012 genome.wustl.edu 37 3 169896685 169896685 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 169896685 169896685 G A SNP PHC3 ENST00000495893 human ensembl 70_37 -1 known missense c.56 p.P19L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 143 47 24.74 168 0 0.00 PHEX 5251 genome.wustl.edu 37 X 22051181 22051181 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 22051181 22051181 C T SNP PHEX ENST00000379374 human ensembl 70_37 +1 known nonsense c.58 p.R20* 0.011 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 166 56 25.23 229 0 0.00 PHEX 5251 genome.wustl.edu 37 X 22095639 22095639 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 22095639 22095639 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.482 p.R161Q 0.998 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 45 16 26.23 38 0 0.00 PHEX 5251 genome.wustl.edu 37 X 22112215 22112215 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 22112215 22112215 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.847 p.E283K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 27 9 25.00 53 0 0.00 PHEX 5251 genome.wustl.edu 37 X 22115103 22115103 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 22115103 22115103 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 32 23 41.07 56 0 0.00 PHEX 5251 genome.wustl.edu 37 X 22239804 22239804 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 22239804 22239804 A G SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.1843 p.T615A 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 81 15 15.46 69 0 0.00 PHF1 5252 genome.wustl.edu 37 6 33383743 33383743 + Silent SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 33383743 33383743 G T SNP PHF1 ENST00000374516 human ensembl 70_37 +1 known silent c.1572 p.G524 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 21 20 48.78 41 0 0.00 PHF11 51131 genome.wustl.edu 37 13 50097352 50097352 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 50097352 50097352 G A SNP PHF11 ENST00000378319 human ensembl 70_37 +1 known silent c.612 p.V204 0.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 52 11 17.46 57 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27239783 27239783 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27239783 27239783 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1806 p.V602 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 54 33 37.93 83 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27240257 27240257 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27240257 27240257 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1332 p.L444 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 9 3 25.00 20 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27244306 27244306 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27244306 27244306 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1131 p.L377 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 24 15 38.46 34 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27251153 27251153 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 27251153 27251153 C A SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.489 p.R163S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 52 23 30.67 82 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27254014 27254014 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 27254014 27254014 G C SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.316 p.R106G 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 23 26 53.06 46 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27277153 27277153 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 27277153 27277153 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.178 p.D60N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 38 20 34.48 63 0 0.00 PHF12 57649 genome.wustl.edu 37 17 27277195 27277195 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 27277195 27277195 C G SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 33 17 34.00 51 0 0.00 PHF13 148479 genome.wustl.edu 37 1 6680211 6680211 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 6680211 6680211 C T SNP PHF13 ENST00000377648 human ensembl 70_37 +1 known missense c.490 p.P164S 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 22 9 29.03 32 0 0.00 PHF13 148479 genome.wustl.edu 37 1 6681563 6681563 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6681563 6681563 C T SNP PHF13 ENST00000377648 human ensembl 70_37 +1 known missense c.769 p.H257Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 61 11 15.28 46 0 0.00 PHF14 9678 genome.wustl.edu 37 7 11053396 11053396 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 11053396 11053396 G A SNP PHF14 ENST00000403050 human ensembl 70_37 +1 known silent c.1068 p.E356 0.993 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 9 7 43.75 18 0 0.00 PHF14 9678 genome.wustl.edu 37 7 11101423 11101423 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 11101423 11101423 C T SNP PHF14 ENST00000403050 human ensembl 70_37 +1 known silent c.2487 p.T829 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 11 6 35.29 20 0 0.00 PHF15 23338 genome.wustl.edu 37 5 133873703 133873703 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 133873703 133873703 C G SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known nonsense c.131 p.S44* 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 14 17 54.84 37 0 0.00 PHF15 23338 genome.wustl.edu 37 5 133909370 133909370 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 133909370 133909370 G C SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known missense c.1518 p.E506D 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 71 17 19.32 103 0 0.00 PHF15 23338 genome.wustl.edu 37 5 133914845 133914845 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 133914845 133914845 G C SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known missense c.2391 p.E797D 0.996 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 18 15 45.45 31 0 0.00 PHF16 9767 genome.wustl.edu 37 X 46898451 46898451 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46898451 46898451 C T SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known missense c.956 p.T319M 0.998 smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 13 16 55.17 41 0 0.00 PHF16 9767 genome.wustl.edu 37 X 46918303 46918303 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 46918303 46918303 G A SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known missense c.2296 p.G766S 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 63 29 31.18 84 0 0.00 PHF16 9767 genome.wustl.edu 37 X 46918324 46918324 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46918324 46918324 C T SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known silent c.2317 p.L773 0.983 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 9 13 59.09 62 0 0.00 PHF17 79960 genome.wustl.edu 37 4 129773220 129773220 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 129773220 129773220 G A SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known missense c.493 p.E165K 0.801 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 22 20 47.62 30 0 0.00 PHF17 79960 genome.wustl.edu 37 4 129776799 129776799 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 129776799 129776799 C T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known silent c.711 p.I237 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 43 23 34.85 69 0 0.00 PHF17 79960 genome.wustl.edu 37 4 129782960 129782960 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 4 129782960 129782960 C T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known silent c.1083 p.F361 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 21 7 25.00 59 0 0.00 PHF17 79960 genome.wustl.edu 37 4 129793030 129793030 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 4 129793030 129793030 G T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known missense c.2142 p.R714S 0.974 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 13 3 18.75 29 0 0.00 PHF2 5253 genome.wustl.edu 37 9 96339125 96339125 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 96339125 96339125 G C SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known missense c.70 p.D24H 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 5 2 28.57 11 0 0.00 PHF2 5253 genome.wustl.edu 37 9 96398778 96398778 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 96398778 96398778 C T SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known silent c.270 p.I90 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 39 28 41.79 51 0 0.00 PHF2 5253 genome.wustl.edu 37 9 96421802 96421802 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 96421802 96421802 G C SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known missense c.1249 p.E417Q 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 36 19 34.55 70 0 0.00 PHF20 51230 genome.wustl.edu 37 20 34435287 34435287 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 34435287 34435287 G C SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.271 p.E91Q 1.000 smart_Tudor pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 21 14 40.00 30 0 0.00 PHF20 51230 genome.wustl.edu 37 20 34487442 34487442 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 34487442 34487442 G T SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.1433 p.G478V 0.995 pfscan_Znf_C2H2 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 33 5 13.16 46 0 0.00 PHF20 51230 genome.wustl.edu 37 20 34505430 34505430 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 34505430 34505430 C G SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.1850 p.S617C 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 107 19 15.08 52 0 0.00 PHF20 51230 genome.wustl.edu 37 20 34526643 34526643 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34526643 34526643 G A SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known silent c.2325 p.P775 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 68 30 30.61 106 0 0.00 PHF20L1 51105 genome.wustl.edu 37 8 133806714 133806714 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 133806714 133806714 G C SNP PHF20L1 ENST00000315808 human ensembl 70_37 +1 known missense c.142 p.E48Q 1.000 smart_Tudor,smart_Tudor-like_plant pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 80 16 16.67 107 0 0.00 PHF20L1 51105 genome.wustl.edu 37 8 133837520 133837520 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 133837520 133837520 G T SNP PHF20L1 ENST00000395386 human ensembl 70_37 +1 putative nonsense c.1648 p.E550* 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 10 4 28.57 10 0 0.00 PHF20L1 51105 genome.wustl.edu 37 8 133848895 133848895 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 133848895 133848895 G T SNP PHF20L1 ENST00000220847 human ensembl 70_37 +1 known nonsense c.181 p.E61* 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 34 8 19.05 117 0 0.00 PHF20L1 51105 genome.wustl.edu 37 8 133858144 133858144 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 133858144 133858144 G A SNP PHF20L1 ENST00000220847 human ensembl 70_37 +1 known silent c.1191 p.Q397 0.965 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 69 17 19.77 44 0 0.00 PHF21A 51317 genome.wustl.edu 37 11 45955550 45955550 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 45955550 45955550 G A SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known missense c.2015 p.A672V 0.945 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 39 17 30.36 39 0 0.00 PHF21A 51317 genome.wustl.edu 37 11 45975137 45975137 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 45975137 45975137 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known missense c.1036 p.E346K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 50 10 16.67 31 0 0.00 PHF21A 51317 genome.wustl.edu 37 11 45975137 45975137 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 45975137 45975137 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known missense c.1036 p.E346K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 72 9 11.11 97 0 0.00 PHF21A 51317 genome.wustl.edu 37 11 45992778 45992778 + Silent SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 45992778 45992778 A G SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known silent c.501 p.A167 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 38 10 20.83 42 0 0.00 PHF21A 51317 genome.wustl.edu 37 11 45992865 45992865 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 45992865 45992865 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known silent c.414 p.L138 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 38 6 13.64 44 0 0.00 PHF21B 112885 genome.wustl.edu 37 22 45309894 45309894 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45309894 45309894 G C SNP PHF21B ENST00000313237 human ensembl 70_37 -1 known silent c.639 p.L213 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 13 21 61.76 32 0 0.00 PHF21B 112885 genome.wustl.edu 37 22 45312345 45312345 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 45312345 45312345 C T SNP PHF21B ENST00000313237 human ensembl 70_37 -1 known missense c.379 p.G127S 0.961 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 74 15 16.85 134 1 0.74 PHF23 79142 genome.wustl.edu 37 17 7140950 7140950 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 7140950 7140950 G T SNP PHF23 ENST00000320316 human ensembl 70_37 -1 known missense c.64 p.Q22K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 31 4 11.43 39 0 0.00 PHF3 23469 genome.wustl.edu 37 6 64394152 64394152 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 64394152 64394152 G C SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known missense c.529 p.E177Q 0.993 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 26 16 38.10 28 0 0.00 PHF3 23469 genome.wustl.edu 37 6 64395258 64395258 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 64395258 64395258 C G SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known silent c.1635 p.V545 0.988 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 58 11 15.94 76 0 0.00 PHF3 23469 genome.wustl.edu 37 6 64408465 64408465 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 64408465 64408465 G C SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known missense c.2952 p.L984F 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 44 25 36.23 57 0 0.00 PHF3 23469 genome.wustl.edu 37 6 64422276 64422276 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 64422276 64422276 C T SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known nonsense c.4792 p.Q1598* 0.054 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 79 13 13.83 72 0 0.00 PHF6 84295 genome.wustl.edu 37 X 133549136 133549136 + Nonsense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 133549136 133549136 C T SNP PHF6 ENST00000394292 human ensembl 70_37 +1 known nonsense c.823 p.R275* 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 169 19 10.11 173 0 0.00 PHF8 23133 genome.wustl.edu 37 X 53966697 53966697 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 53966697 53966697 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.3010 p.R1004C 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 40 28 41.18 81 0 0.00 PHF8 23133 genome.wustl.edu 37 X 54011586 54011586 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 54011586 54011586 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.2312 p.S771L 0.995 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 28 14 33.33 61 0 0.00 PHF8 23133 genome.wustl.edu 37 X 54022194 54022194 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 54022194 54022194 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.1363 p.E455K 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 64 9 12.33 54 0 0.00 PHF8 23133 genome.wustl.edu 37 X 54022200 54022200 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 54022200 54022200 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.1357 p.E453K 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 31 8 20.51 53 0 0.00 PHF8 23133 genome.wustl.edu 37 X 54040926 54040926 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 54040926 54040926 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 43 31 41.89 60 0 0.00 PHF8 23133 genome.wustl.edu 37 X 54048782 54048782 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54048782 54048782 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.311 p.S104F 0.989 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 51 16 23.88 78 0 0.00 PHGDH 26227 genome.wustl.edu 37 1 120286679 120286679 + RNA SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 120286679 120286679 G T SNP PHGDH ENST00000482968 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PHGDH HGNC ENSG00000092621 8 3 27.27 26 0 0.00 PHIP 55023 genome.wustl.edu 37 6 79650622 79650622 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 79650622 79650622 C T SNP PHIP ENST00000275034 human ensembl 70_37 -1 known missense c.5254 p.E1752K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 862 362 29.45 1006 0 0.00 PHIP 55023 genome.wustl.edu 37 6 79655921 79655921 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 79655921 79655921 G A SNP PHIP ENST00000275034 human ensembl 70_37 -1 known missense c.4427 p.S1476F 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 27 11 28.95 38 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71800867 71800867 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 71800867 71800867 G T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known silent c.3708 p.I1236 0.967 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 63 58 47.93 84 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71825220 71825220 + Nonsense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 71825220 71825220 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known nonsense c.2716 p.R906* 0.981 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 15 21 58.33 65 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71825423 71825423 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 71825423 71825423 C T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.2653 p.E885K 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 90 11 10.89 78 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71887265 71887265 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71887265 71887265 G T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known nonsense c.677 p.S226* 0.995 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 28 11 28.21 57 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71932674 71932674 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 71932674 71932674 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.184 p.R62W 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 1 30 96.77 42 0 0.00 PHKA1 5255 genome.wustl.edu 37 X 71932674 71932674 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 71932674 71932674 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.184 p.R62W 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 2 29 93.55 31 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18919625 18919625 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 18919625 18919625 C G SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.3005 p.R1002T 0.794 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 100 16 13.68 110 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18924858 18924858 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 18924858 18924858 G A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.2672 p.T891M 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 149 96 39.18 269 1 0.37 PHKA2 5256 genome.wustl.edu 37 X 18942509 18942509 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 18942509 18942509 G A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known silent c.1704 p.R568 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 266 58 17.90 368 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18944619 18944619 + Missense_Mutation SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 18944619 18944619 T C SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.1411 p.I471V 0.985 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 28 33 54.10 43 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18949833 18949833 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 18949833 18949833 C A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.1171 p.D391Y 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 31 18 36.73 74 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18959775 18959775 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 X 18959775 18959775 G T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.736 p.L246M 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 27 3 10.00 35 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18961874 18961874 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d X 18961874 18961874 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.671 p.R224H 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 19 13 40.62 80 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 18969235 18969235 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18969235 18969235 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known silent c.441 p.Q147 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 39 12 23.53 48 0 0.00 PHKA2 5256 genome.wustl.edu 37 X 19002029 19002029 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 19002029 19002029 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.22 p.G8R 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 79 10 11.24 93 0 0.00 PHKB 5257 genome.wustl.edu 37 16 47621660 47621660 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 47621660 47621660 G T SNP PHKB ENST00000299167 human ensembl 70_37 +1 known nonsense c.856 p.E286* 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 24 16 40.00 27 0 0.00 PHKB 5257 genome.wustl.edu 37 16 47630322 47630322 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 47630322 47630322 G A SNP PHKB ENST00000299167 human ensembl 70_37 +1 known missense c.1243 p.D415N 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 43 15 25.86 66 0 0.00 PHKB 5257 genome.wustl.edu 37 16 47699866 47699866 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 47699866 47699866 C T SNP PHKB ENST00000299167 human ensembl 70_37 +1 known missense c.2350 p.R784C 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 71 20 21.98 124 0 0.00 PHKG2 5261 genome.wustl.edu 37 16 30764777 30764777 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 30764777 30764777 G A SNP PHKG2 ENST00000563588 human ensembl 70_37 +1 known missense c.455 p.R152Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 63 24 27.59 86 0 0.00 PHKG2 5261 genome.wustl.edu 37 16 30768370 30768370 + Silent SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 30768370 30768370 A C SNP PHKG2 ENST00000563588 human ensembl 70_37 +1 known silent c.1173 p.G391 0.316 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 37 13 26.00 30 0 0.00 PHLDA1 22822 genome.wustl.edu 37 12 76424317 76424317 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 76424317 76424317 C T SNP PHLDA1 ENST00000266671 human ensembl 70_37 -1 known silent c.1205 p.*402 1.000 NULL smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 37 7 15.91 45 0 0.00 PHLDA1 22822 genome.wustl.edu 37 12 76424550 76424550 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 76424550 76424550 C T SNP PHLDA1 ENST00000266671 human ensembl 70_37 -1 known silent c.972 p.Q324 0.992 NULL smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 30 14 31.82 43 0 0.00 PHLDA1 22822 genome.wustl.edu 37 12 76424952 76424952 + Missense_Mutation SNP C C G TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 12 76424952 76424952 C G SNP PHLDA1 ENST00000266671 human ensembl 70_37 -1 known missense c.570 p.Q190H 0.996 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 12 4 25.00 12 0 0.00 PHLDA2 7262 genome.wustl.edu 37 11 2950567 2950567 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 2950567 2950567 C G SNP PHLDA2 ENST00000314222 human ensembl 70_37 -1 known missense c.28 p.E10Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology - no_errors PHLDA2 HGNC ENSG00000181649 0 5 100.00 14 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201435540 201435540 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 201435540 201435540 C G SNP PHLDA3 ENST00000497057 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PHLDA3 HGNC ENSG00000174307 44 10 18.52 22 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201437540 201437540 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201437540 201437540 G C SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.375 p.L125 0.805 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC ENSG00000174307 36 19 34.55 59 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201437540 201437540 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 201437540 201437540 G C SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.375 p.L125 0.805 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC ENSG00000174307 57 9 13.64 69 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201437555 201437555 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 201437555 201437555 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.360 p.L120 0.137 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC ENSG00000174307 43 11 20.37 38 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201437741 201437741 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 201437741 201437741 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.174 p.I58 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA3 HGNC ENSG00000174307 26 12 31.58 35 0 0.00 PHLDA3 23612 genome.wustl.edu 37 1 201437750 201437750 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 201437750 201437750 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.165 p.F55 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA3 HGNC ENSG00000174307 10 7 41.18 19 0 0.00 PHLDB1 23187 genome.wustl.edu 37 11 118478396 118478397 + RNA INS - - C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 118478396 118478397 - C INS PHLDB1 ENST00000530708 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors PHLDB1 HGNC ENSG00000019144 13 7 35.00 10 0 0.00 PHLDB1 23187 genome.wustl.edu 37 11 118498318 118498318 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 118498318 118498318 C T SNP PHLDB1 ENST00000361417 human ensembl 70_37 +1 known missense c.779 p.S260L 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 184 41 18.22 252 0 0.00 PHLDB2 90102 genome.wustl.edu 37 3 111603090 111603090 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111603090 111603090 T G SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known missense c.166 p.S56A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 16 3 15.79 35 0 0.00 PHLDB2 90102 genome.wustl.edu 37 3 111603801 111603801 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 111603801 111603801 C T SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known missense c.877 p.H293Y 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 45 9 16.67 33 0 0.00 PHLDB2 90102 genome.wustl.edu 37 3 111681103 111681103 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111681103 111681103 T C SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known silent c.3021 p.D1007 0.994 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 19 17 47.22 64 0 0.00 PHLDB3 653583 genome.wustl.edu 37 19 43979673 43979673 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 43979673 43979673 G C SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.1812 p.F604L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 26 11 29.73 20 0 0.00 PHLDB3 653583 genome.wustl.edu 37 19 43979673 43979673 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 43979673 43979673 G C SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.1812 p.F604L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 40 22 35.48 32 0 0.00 PHLDB3 653583 genome.wustl.edu 37 19 43999435 43999435 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 43999435 43999435 G A SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known silent c.1008 p.F336 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 41 10 19.61 52 0 0.00 PHLDB3 653583 genome.wustl.edu 37 19 44008063 44008063 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 44008063 44008063 C T SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.208 p.D70N 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 89 12 11.88 87 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60563237 60563237 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 60563237 60563237 G T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.2437 p.D813Y 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 30 4 11.43 43 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60587256 60587256 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 60587256 60587256 G C SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.2869 p.E957Q 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 51 10 16.13 61 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60645726 60645726 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 60645726 60645726 G T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4216 p.A1406S 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 36 4 10.00 34 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60645786 60645786 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 60645786 60645786 G C SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4276 p.E1426Q 0.999 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 45 23 33.82 54 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60645815 60645815 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 18 60645815 60645815 C T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known silent c.4305 p.S1435 0.068 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 22 8 26.67 36 0 0.00 PHLPP1 23239 genome.wustl.edu 37 18 60646371 60646371 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 60646371 60646371 C T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4861 p.R1621W 0.756 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 16 19 54.29 20 0 0.00 PHLPP2 23035 genome.wustl.edu 37 16 71697826 71697826 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 16 71697826 71697826 T C SNP PHLPP2 ENST00000356272 human ensembl 70_37 -1 known missense c.1961 p.N654S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC ENSG00000040199 18 8 30.77 27 0 0.00 PHLPP2 23035 genome.wustl.edu 37 16 71715677 71715677 + Frame_Shift_Del DEL G G - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 71715677 71715677 G - DEL PHLPP2 ENST00000356272 human ensembl 70_37 -1 known frame_shift_del c.867 p.G290fs 0.997 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC ENSG00000040199 12 2 14.29 57 0 0.00 PHLPP2 23035 genome.wustl.edu 37 16 71736609 71736609 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 71736609 71736609 G T SNP PHLPP2 ENST00000356272 human ensembl 70_37 -1 known missense c.310 p.L104I 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC ENSG00000040199 11 12 52.17 42 0 0.00 PHOSPHO1 162466 genome.wustl.edu 37 17 47301946 47301946 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 47301946 47301946 C T SNP PHOSPHO1 ENST00000413580 human ensembl 70_37 -1 known missense c.541 p.G181R 0.999 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC ENSG00000173868 16 5 23.81 19 0 0.00 PHOSPHO1 162466 genome.wustl.edu 37 17 47302015 47302015 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 47302015 47302015 G A SNP PHOSPHO1 ENST00000413580 human ensembl 70_37 -1 known silent c.472 p.L158 0.981 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC ENSG00000173868 11 5 31.25 23 0 0.00 PHOSPHO2 493911 genome.wustl.edu 37 2 170557671 170557671 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170557671 170557671 G C SNP PHOSPHO2 ENST00000359744 human ensembl 70_37 +1 known missense c.190 p.E64Q 1.000 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 19 8 29.63 32 0 0.00 PHOSPHO2 493911 genome.wustl.edu 37 2 170557827 170557827 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170557827 170557827 G C SNP PHOSPHO2 ENST00000359744 human ensembl 70_37 +1 known missense c.346 p.D116H 0.004 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 12 4 25.00 14 0 0.00 PHPT1 29085 genome.wustl.edu 37 9 139743790 139743790 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139743790 139743790 G A SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PHPT1 HGNC ENSG00000054148 33 13 28.26 34 0 0.00 PHPT1 29085 genome.wustl.edu 37 9 139743846 139743846 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139743846 139743846 G A SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors PHPT1 HGNC ENSG00000054148 56 13 18.84 54 0 0.00 PHPT1 29085 genome.wustl.edu 37 9 139743863 139743863 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139743863 139743863 G C SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors PHPT1 HGNC ENSG00000054148 66 18 21.43 110 0 0.00 PHPT1 29085 genome.wustl.edu 37 9 139744960 139744960 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139744960 139744960 G A SNP PHPT1 ENST00000371661 human ensembl 70_37 +1 known missense c.288 p.M96I 0.000 NULL pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 10 5 33.33 27 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 591399 591399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 591399 591399 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.436 p.P146A 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 43 28 39.44 68 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 605255 605255 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 605255 605255 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.1289 p.S430C 0.922 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 13 9 40.91 33 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 606580 606580 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 606580 606580 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known silent c.1593 p.L531 0.968 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 38 11 22.45 50 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 607352 607352 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 607352 607352 C T SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known silent c.1896 p.F632 0.002 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 173 44 20.28 232 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 608208 608208 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 608208 608208 G C SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.2752 p.E918Q 0.017 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 57 8 11.94 62 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 608302 608302 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 608302 608302 G A SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.2846 p.C949Y 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 13 2 13.33 22 0 0.00 PHRF1 57661 genome.wustl.edu 37 11 610993 610993 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 610993 610993 G A SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.4717 p.E1573K 1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 39 7 15.22 43 0 0.00 PHTF1 10745 genome.wustl.edu 37 1 114254388 114254388 + Nonsense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 114254388 114254388 C A SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known nonsense c.1027 p.E343* 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 28 5 15.15 42 0 0.00 PHTF1 10745 genome.wustl.edu 37 1 114254566 114254566 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 114254566 114254566 G C SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.953 p.S318C 0.986 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 37 21 36.21 30 0 0.00 PHTF1 10745 genome.wustl.edu 37 1 114255982 114255982 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114255982 114255982 C G SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.702 p.K234N 0.998 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 31 19 38.00 71 0 0.00 PHTF1 10745 genome.wustl.edu 37 1 114256082 114256082 + RNA SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 114256082 114256082 G C SNP PHTF1 ENST00000474926 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PHTF1 HGNC ENSG00000116793 10 6 37.50 11 0 0.00 PHTF1 10745 genome.wustl.edu 37 1 114300327 114300327 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 114300327 114300327 C G SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.96 p.Q32H 1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 99 17 14.66 47 0 0.00 PHTF2 57157 genome.wustl.edu 37 7 77484121 77484121 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 77484121 77484121 C G SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.117 p.L39 0.005 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 30 32 51.61 60 0 0.00 PHTF2 57157 genome.wustl.edu 37 7 77538189 77538189 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 77538189 77538189 G A SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.525 p.L175 0.996 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 39 6 13.33 62 0 0.00 PHTF2 57157 genome.wustl.edu 37 7 77567158 77567158 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 77567158 77567158 G T SNP PHTF2 ENST00000454592 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PHTF2 HGNC ENSG00000006576 31 6 16.22 52 0 0.00 PHTF2 57157 genome.wustl.edu 37 7 77580942 77580942 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 77580942 77580942 C G SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.2124 p.L708 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 44 9 16.98 57 0 0.00 PHYHIP 9796 genome.wustl.edu 37 8 22081786 22081786 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22081786 22081786 G A SNP PHYHIP ENST00000454243 human ensembl 70_37 -1 known silent c.411 p.F137 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 26 12 31.58 46 0 0.00 PHYHIP 9796 genome.wustl.edu 37 8 22085783 22085783 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 22085783 22085783 C T SNP PHYHIP ENST00000454243 human ensembl 70_37 -1 known missense c.88 p.D30N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 99 15 13.16 122 0 0.00 PHYHIPL 84457 genome.wustl.edu 37 10 61004878 61004878 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 61004878 61004878 C A SNP PHYHIPL ENST00000373880 human ensembl 70_37 +1 known missense c.658 p.P220T 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 27 4 12.90 29 0 0.00 PI4K2A 55361 genome.wustl.edu 37 10 99361706 99361706 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 99361706 99361706 G T SNP PI4K2A ENST00000555577 human ensembl 70_37 +1 known missense c.304 p.A102S 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 23 3 11.54 32 0 0.00 PI4K2A 55361 genome.wustl.edu 37 10 99416696 99416696 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 10 99416696 99416696 G T SNP PI4K2A ENST00000370631 human ensembl 70_37 +1 known missense c.887 p.R296L 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 44 35 44.30 84 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21065052 21065053 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 21065052 21065053 - C INS PI4KA ENST00000255882 human ensembl 70_37 -1 known frame_shift_ins c.6018_6017 p.K2007fs 1.000:1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 234 41 14.91 239 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21075635 21075635 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 21075635 21075635 C T SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known nonsense c.5067 p.W1689* 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 15 10 40.00 61 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21088097 21088097 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21088097 21088097 C T SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.4087 p.D1363N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 30 25 45.45 65 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21119489 21119489 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 21119489 21119489 C G SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.2473 p.E825Q 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 160 23 12.04 204 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21119958 21119958 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21119958 21119958 G A SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.2352 p.I784 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 46 23 33.33 58 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21167759 21167759 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 21167759 21167759 C G SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.892 p.E298Q 0.993 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 61 23 27.38 70 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21174094 21174094 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 21174094 21174094 G C SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.624 p.L208 0.997 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 30 13 30.23 54 0 0.00 PI4KA 5297 genome.wustl.edu 37 22 21188890 21188890 + Silent SNP T T C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 21188890 21188890 T C SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.327 p.K109 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 157 83 34.44 334 0 0.00 PI4KAP1 728233 genome.wustl.edu 37 22 20394631 20394631 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 20394631 20394631 G A SNP PI4KAP1 ENST00000416922 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors PI4KAP1 HGNC ENSG00000215513 14 9 39.13 24 0 0.00 PI4KAP1 728233 genome.wustl.edu 37 22 20402341 20402341 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 20402341 20402341 A G SNP PI4KAP1 ENST00000416922 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC ENSG00000215513 0 3 100.00 8 0 0.00 PI4KAP2 375133 genome.wustl.edu 37 22 21834057 21834057 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 21834057 21834057 C G SNP PI4KAP2 ENST00000450651 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 33 5 12.82 50 0 0.00 PI4KAP2 375133 genome.wustl.edu 37 22 21842196 21842196 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 21842196 21842196 C G SNP PI4KAP2 ENST00000450651 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 39 10 20.41 58 0 0.00 PI4KB 5298 genome.wustl.edu 37 1 151278698 151278698 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 151278698 151278698 G A SNP PI4KB ENST00000271657 human ensembl 70_37 -1 known nonsense c.1360 p.R454* 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 43 23 34.85 66 0 0.00 PI4KB 5298 genome.wustl.edu 37 1 151288811 151288811 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 151288811 151288811 C T SNP PI4KB ENST00000271657 human ensembl 70_37 -1 known silent c.183 p.Q61 1.000 NULL pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 42 10 19.23 52 0 0.00 PIANP 196500 genome.wustl.edu 37 12 6804739 6804739 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 6804739 6804739 C G SNP PIANP ENST00000320591 human ensembl 70_37 -1 known silent c.684 p.L228 1.000 NULL NULL - no_errors PIANP HGNC ENSG00000139200 33 29 46.77 74 0 0.00 PIAS2 9063 genome.wustl.edu 37 18 44407992 44407992 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 18 44407992 44407992 C T SNP PIAS2 ENST00000585916 human ensembl 70_37 -1 known missense c.1438 p.E480K 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC ENSG00000078043 55 13 19.12 188 0 0.00 PIAS3 10401 genome.wustl.edu 37 1 145579296 145579296 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145579296 145579296 C G SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known silent c.633 p.L211 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC ENSG00000131788 38 20 34.48 74 0 0.00 PIAS3 10401 genome.wustl.edu 37 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145584227 145584227 G A SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known missense c.1378 p.D460N 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC ENSG00000131788 333 41 10.96 287 0 0.00 PIAS3 10401 genome.wustl.edu 37 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145584227 145584227 G A SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known missense c.1378 p.D460N 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC ENSG00000131788 18 5 21.74 23 0 0.00 PIBF1 10464 genome.wustl.edu 37 13 73357704 73357704 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 73357704 73357704 G A SNP PIBF1 ENST00000326291 human ensembl 70_37 +1 known missense c.97 p.D33N 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 26 10 27.78 41 0 0.00 PIBF1 10464 genome.wustl.edu 37 13 73366588 73366588 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 73366588 73366588 G A SNP PIBF1 ENST00000326291 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 33 13 28.26 67 0 0.00 PIBF1 10464 genome.wustl.edu 37 13 73539531 73539531 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 73539531 73539531 G A SNP PIBF1 ENST00000326291 human ensembl 70_37 +1 known silent c.1953 p.E651 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 57 8 12.31 48 0 0.00 PICALM 8301 genome.wustl.edu 37 11 85723350 85723350 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 85723350 85723350 T C SNP PICALM ENST00000393346 human ensembl 70_37 -1 known missense c.632 p.Y211C 1.000 pfam_ANTH pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 26 19 42.22 31 0 0.00 PICALM 8301 genome.wustl.edu 37 11 85779764 85779764 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 85779764 85779764 G A SNP PICALM ENST00000393346 human ensembl 70_37 -1 known missense c.59 p.S20F 1.000 pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 23 5 17.86 23 0 0.00 PICK1 9463 genome.wustl.edu 37 22 38469791 38469791 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 38469791 38469791 G C SNP PICK1 ENST00000356976 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_Arfaptin_homology_dom,pfam_BAR_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 103 33 24.26 179 0 0.00 PID1 55022 genome.wustl.edu 37 2 229890630 229890630 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 229890630 229890630 G T SNP PID1 ENST00000354069 human ensembl 70_37 -1 known missense c.471 p.H157Q 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors PID1 HGNC ENSG00000153823 70 38 35.19 77 0 0.00 PID1 55022 genome.wustl.edu 37 2 230020601 230020601 + Missense_Mutation SNP T T G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 230020601 230020601 T G SNP PID1 ENST00000354069 human ensembl 70_37 -1 known missense c.209 p.E70A 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors PID1 HGNC ENSG00000153823 19 13 40.62 32 0 0.00 PIDD 55367 genome.wustl.edu 37 11 799341 799341 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 799341 799341 G C SNP PIDD ENST00000347755 human ensembl 70_37 -1 known missense c.2699 p.S900W 0.000 NULL pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 61 7 10.29 100 0 0.00 PIDD 55367 genome.wustl.edu 37 11 799519 799519 + Nonsense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 799519 799519 C A SNP PIDD ENST00000347755 human ensembl 70_37 -1 known nonsense c.2521 p.E841* 0.236 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 25 10 28.57 16 0 0.00 PIDD 55367 genome.wustl.edu 37 11 800015 800015 + Splice_Site SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 800015 800015 C T SNP PIDD ENST00000347755 human ensembl 70_37 -1 known splice_site c.2275-1 e14-1 0.977 - - - no_errors PIDD HGNC ENSG00000177595 152 65 29.95 145 0 0.00 PIDD 55367 genome.wustl.edu 37 11 800182 800182 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 800182 800182 C T SNP PIDD ENST00000347755 human ensembl 70_37 -1 known silent c.2223 p.Q741 1.000 NULL pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 34 9 20.45 33 0 0.00 PIEZO1 9780 genome.wustl.edu 37 16 88783292 88783292 + Missense_Mutation SNP C C G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 88783292 88783292 C G SNP PIEZO1 ENST00000327397 human ensembl 70_37 -1 known missense c.279 p.M93I 1.000 pfam_DUF3595 pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 29 10 25.64 53 0 0.00 PIEZO1 9780 genome.wustl.edu 37 16 88787119 88787119 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 88787119 88787119 C G SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel missense c.5706 p.E1902D 0.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 31 13 29.55 91 0 0.00 PIEZO1 9780 genome.wustl.edu 37 16 88792849 88792849 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 16 88792849 88792849 C T SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel missense c.3811 p.D1271N 0.001 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 57 15 20.83 86 0 0.00 PIEZO1 9780 genome.wustl.edu 37 16 88801158 88801158 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 88801158 88801158 C T SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel missense c.1897 p.V633M 1.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 70 22 23.91 104 1 0.95 PIEZO1 9780 genome.wustl.edu 37 16 88801568 88801568 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88801568 88801568 C T SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel silent c.1644 p.L548 0.016 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 26 23 46.94 46 0 0.00 PIEZO1 9780 genome.wustl.edu 37 16 88804492 88804492 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 88804492 88804492 G A SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel silent c.870 p.F290 0.985 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 36 19 33.93 29 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10704485 10704485 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 10704485 10704485 C T SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel silent c.5901 p.T1967 0.474 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC ENSG00000154864 17 19 52.78 18 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10704486 10704486 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 18 10704486 10704486 G A SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel missense c.5900 p.T1967M 1.000 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC ENSG00000154864 36 8 18.18 72 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10705483 10705483 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 10705483 10705483 G A SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel silent c.5586 p.F1862 0.034 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC ENSG00000154864 31 16 34.04 61 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10762946 10762946 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 10762946 10762946 C G SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.3064 p.E1022Q 0.026 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 22 21 48.84 50 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10773531 10773531 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 10773531 10773531 C A SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known silent c.2631 p.G877 0.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 24 4 14.29 28 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10789223 10789223 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 10789223 10789223 G T SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.2023 p.L675M 0.345 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 33 4 10.81 53 0 0.00 PIEZO2 63895 genome.wustl.edu 37 18 10857131 10857131 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 10857131 10857131 C T SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.571 p.E191K 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 50 20 28.57 88 0 0.00 PIFO 128344 genome.wustl.edu 37 1 111891340 111891340 + RNA SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111891340 111891340 A C SNP PIFO ENST00000484512 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIFO HGNC ENSG00000173947 28 18 39.13 34 0 0.00 PIFO 128344 genome.wustl.edu 37 1 111893946 111893946 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 111893946 111893946 T G SNP PIFO ENST00000369738 human ensembl 70_37 +1 known missense c.573 p.N191K 0.000 NULL NULL - no_errors PIFO HGNC ENSG00000173947 23 23 50.00 63 0 0.00 PIGA 5277 genome.wustl.edu 37 X 15349598 15349598 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 15349598 15349598 G A SNP PIGA ENST00000333590 human ensembl 70_37 -1 known missense c.455 p.T152M 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 22 8 26.67 13 0 0.00 PIGA 5277 genome.wustl.edu 37 X 15349650 15349650 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 15349650 15349650 C T SNP PIGA ENST00000333590 human ensembl 70_37 -1 known missense c.403 p.A135T 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 10 10 50.00 27 0 0.00 PIGC 5279 genome.wustl.edu 37 1 172366306 172366306 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 172366306 172366306 C G SNP PIGC ENST00000484368 human ensembl 70_37 -1 known rna NULL NULL 0.683 - - - no_errors PIGC HGNC ENSG00000135845 36 8 18.18 38 0 0.00 PIGC 5279 genome.wustl.edu 37 1 172412936 172412936 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 172412936 172412936 G A SNP PIGC ENST00000478184 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PIGC HGNC ENSG00000135845 57 11 16.18 38 0 0.00 PIGC 5279 genome.wustl.edu 37 1 172413191 172413191 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 172413191 172413191 G A SNP PIGC ENST00000484368 human ensembl 70_37 -1 known rna NULL NULL 0.965 - - - no_errors PIGC HGNC ENSG00000135845 17 14 45.16 19 0 0.00 PIGG 54872 genome.wustl.edu 37 4 493078 493078 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 493078 493078 G T SNP PIGG ENST00000502311 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIGG HGNC ENSG00000174227 32 26 44.83 41 0 0.00 PIGG 54872 genome.wustl.edu 37 4 502747 502747 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 502747 502747 G C SNP PIGG ENST00000453061 human ensembl 70_37 +1 known missense c.889 p.E297Q 0.998 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 23 4 14.81 14 0 0.00 PIGG 54872 genome.wustl.edu 37 4 524319 524319 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 524319 524319 G C SNP PIGG ENST00000453061 human ensembl 70_37 +1 known missense c.2356 p.D786H 0.129 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 57 28 32.94 114 0 0.00 PIGH 5283 genome.wustl.edu 37 14 68066806 68066806 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 68066806 68066806 G A SNP PIGH ENST00000216452 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 NULL pfam_GPI-GlcNAc_Trfase_PIG-H_dom - no_errors PIGH HGNC ENSG00000100564 51 40 43.96 83 0 0.00 PIGK 10026 genome.wustl.edu 37 1 77557973 77557973 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 77557973 77557973 G C SNP PIGK ENST00000487906 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors PIGK HGNC ENSG00000142892 22 6 21.43 26 0 0.00 PIGK 10026 genome.wustl.edu 37 1 77627018 77627018 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 77627018 77627018 C T SNP PIGK ENST00000370812 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 32 5 13.51 26 0 0.00 PIGK 10026 genome.wustl.edu 37 1 77627295 77627295 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 77627295 77627295 C G SNP PIGK ENST00000370812 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 15 15 50.00 19 0 0.00 PIGK 10026 genome.wustl.edu 37 1 77685079 77685079 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 77685079 77685079 G A SNP PIGK ENST00000370812 human ensembl 70_37 -1 known silent c.9 p.V3 0.014 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 32 9 21.95 27 0 0.00 PIGM 93183 genome.wustl.edu 37 1 160000262 160000262 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 160000262 160000262 T C SNP PIGM ENST00000368090 human ensembl 70_37 -1 known missense c.1268 p.D423G 0.649 NULL pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 8 7 46.67 24 0 0.00 PIGN 23556 genome.wustl.edu 37 18 59739947 59739947 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 59739947 59739947 G C SNP PIGN ENST00000357637 human ensembl 70_37 -1 known missense c.2631 p.F877L 0.996 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 17 4 19.05 29 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35089413 35089413 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35089413 35089413 C T SNP PIGO ENST00000341666 human ensembl 70_37 -1 known missense c.3104 p.R1035H 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 31 19 38.00 63 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35091215 35091215 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35091215 35091215 G A SNP PIGO ENST00000474436 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC ENSG00000165282 36 19 34.55 76 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35091686 35091686 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 35091686 35091686 C T SNP PIGO ENST00000341666 human ensembl 70_37 -1 known missense c.2198 p.R733Q 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 40 23 36.51 55 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35093126 35093126 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 35093126 35093126 G A SNP PIGO ENST00000341666 human ensembl 70_37 -1 known silent c.1020 p.I340 0.378 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 13 16 55.17 21 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35094192 35094192 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 35094192 35094192 G A SNP PIGO ENST00000465745 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC ENSG00000165282 44 8 15.38 51 0 0.00 PIGO 84720 genome.wustl.edu 37 9 35095707 35095707 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 35095707 35095707 T C SNP PIGO ENST00000474436 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC ENSG00000165282 70 32 31.37 35 0 0.00 PIGQ 9091 genome.wustl.edu 37 16 624234 624234 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 624234 624234 C T SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known nonsense c.160 p.Q54* 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 69 32 31.68 51 0 0.00 PIGQ 9091 genome.wustl.edu 37 16 624416 624416 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 624416 624416 G A SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known silent c.342 p.A114 0.001 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 24 11 31.43 25 0 0.00 PIGQ 9091 genome.wustl.edu 37 16 628881 628881 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 628881 628881 C G SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known missense c.1166 p.S389W 1.000 pfam_GlcNAc_Gpi1 pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 27 6 18.18 54 0 0.00 PIGR 5284 genome.wustl.edu 37 1 207110701 207110701 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 207110701 207110701 C T SNP PIGR ENST00000356495 human ensembl 70_37 -1 known missense c.784 p.E262K 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC ENSG00000162896 11 13 54.17 38 0 0.00 PIGR 5284 genome.wustl.edu 37 1 207112633 207112633 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 207112633 207112633 G A SNP PIGR ENST00000356495 human ensembl 70_37 -1 known silent c.219 p.Y73 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC ENSG00000162896 55 11 16.67 48 0 0.00 PIGU 128869 genome.wustl.edu 37 20 33173287 33173287 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33173287 33173287 G C SNP PIGU ENST00000217446 human ensembl 70_37 -1 known missense c.880 p.Q294E 1.000 pfam_PIG-U pfam_PIG-U - no_errors PIGU HGNC ENSG00000101464 9 22 70.97 31 0 0.00 PIGU 128869 genome.wustl.edu 37 20 33233093 33233093 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 33233093 33233093 C T SNP PIGU ENST00000217446 human ensembl 70_37 -1 known missense c.241 p.E81K 1.000 NULL pfam_PIG-U - no_errors PIGU HGNC ENSG00000101464 39 15 27.78 53 0 0.00 PIGV 55650 genome.wustl.edu 37 1 27117354 27117354 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27117354 27117354 C T SNP PIGV ENST00000078527 human ensembl 70_37 +1 known silent c.48 p.V16 0.129 pfam_GPI_Mannosyltransferase_2-like pfam_GPI_Mannosyltransferase_2-like - no_errors PIGV HGNC ENSG00000060642 54 29 34.94 71 0 0.00 PIGX 54965 genome.wustl.edu 37 3 196449344 196449344 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 196449344 196449344 C G SNP PIGX ENST00000296333 human ensembl 70_37 +1 known missense c.235 p.L79V 1.000 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 36 31 46.27 48 0 0.00 PIGZ 80235 genome.wustl.edu 37 3 196674919 196674919 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196674919 196674919 G T SNP PIGZ ENST00000412723 human ensembl 70_37 -1 known silent c.849 p.P283 0.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 126 45 26.01 59 0 0.00 PIH1D2 120379 genome.wustl.edu 37 11 111942361 111942361 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 111942361 111942361 G C SNP PIH1D2 ENST00000280350 human ensembl 70_37 -1 known nonsense c.299 p.S100* 1.000 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC ENSG00000150773 55 33 37.50 113 0 0.00 PIH1D2 120379 genome.wustl.edu 37 11 111943771 111943771 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111943771 111943771 T G SNP PIH1D2 ENST00000280350 human ensembl 70_37 -1 known missense c.128 p.Q43P 0.071 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC ENSG00000150773 17 13 43.33 55 0 0.00 PIH1D3 139212 genome.wustl.edu 37 X 106486435 106486435 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106486435 106486435 T C SNP PIH1D3 ENST00000336387 human ensembl 70_37 +1 known silent c.552 p.C184 0.000 pfam_PIH pfam_PIH - no_errors PIH1D3 HGNC ENSG00000080572 29 8 21.62 60 0 0.00 PIK3AP1 118788 genome.wustl.edu 37 10 98355335 98355335 + Nonstop_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 98355335 98355335 C G SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known nonstop c.2417 p.*806S 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 36 17 32.08 82 0 0.00 PIK3AP1 118788 genome.wustl.edu 37 10 98405365 98405365 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 98405365 98405365 C A SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known nonsense c.1240 p.E414* 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 108 31 22.30 154 0 0.00 PIK3AP1 118788 genome.wustl.edu 37 10 98408502 98408502 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 98408502 98408502 C T SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.1099 p.V367M 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 58 47 44.76 66 0 0.00 PIK3AP1 118788 genome.wustl.edu 37 10 98408550 98408550 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 98408550 98408550 G T SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.1051 p.L351I 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 25 4 13.79 34 0 0.00 PIK3AP1 118788 genome.wustl.edu 37 10 98469594 98469594 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 98469594 98469594 A C SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.160 p.S54A 0.954 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 33 19 36.54 95 0 0.00 PIK3C2A 5286 genome.wustl.edu 37 11 17118705 17118705 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 17118705 17118705 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.4225 p.L1409F 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 28 10 26.32 37 0 0.00 PIK3C2A 5286 genome.wustl.edu 37 11 17190537 17190537 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17190537 17190537 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.752 p.S251L 0.968 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 32 21 39.62 72 0 0.00 PIK3C2A 5286 genome.wustl.edu 37 11 17190670 17190670 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17190670 17190670 G T SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.619 p.H207N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 21 8 27.59 52 0 0.00 PIK3C2A 5286 genome.wustl.edu 37 11 17191131 17191131 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 17191131 17191131 C T SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.158 p.R53K 0.311 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 29 20 40.82 56 0 0.00 PIK3C2A 5286 genome.wustl.edu 37 11 17191265 17191265 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 17191265 17191265 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known silent c.24 p.S8 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 12 12 50.00 26 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204400760 204400760 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 204400760 204400760 G A SNP PIK3C2B ENST00000462752 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIK3C2B HGNC ENSG00000133056 34 26 43.33 61 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204403022 204403022 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 204403022 204403022 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.3742 p.D1248N 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 25 9 26.47 37 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204403616 204403616 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 204403616 204403616 C G SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.3637 p.D1213H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 20 27 57.45 48 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204408075 204408075 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 204408075 204408075 G A SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known silent c.3504 p.D1168 0.317 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 46 12 20.69 36 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204438027 204438027 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 204438027 204438027 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.904 p.G302S 0.983 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 47 19 28.79 77 0 0.00 PIK3C2B 5287 genome.wustl.edu 37 1 204438303 204438303 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 204438303 204438303 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.628 p.E210K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 20 12 37.50 23 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18435082 18435082 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18435082 18435082 G T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known nonsense c.67 p.E23* 0.021 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 10 15 60.00 30 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18435273 18435273 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 18435273 18435273 G A SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known silent c.258 p.L86 0.002 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 33 6 15.38 39 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18515721 18515721 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 18515721 18515721 G C SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.1649 p.C550S 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 24 6 20.00 21 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18552709 18552709 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 18552709 18552709 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.2243 p.S748L 0.917 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 85 24 22.02 92 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18576946 18576946 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18576946 18576946 G A SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.2477 p.S826N 0.999 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 19 10 34.48 35 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18658367 18658367 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 18658367 18658367 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.3295 p.H1099Y 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 55 11 16.67 57 0 0.00 PIK3C2G 5288 genome.wustl.edu 37 12 18715808 18715808 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 18715808 18715808 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known silent c.3762 p.F1254 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 17 12 41.38 29 0 0.00 PIK3C3 5289 genome.wustl.edu 37 18 39550410 39550410 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 39550410 39550410 G A SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.521 p.R174H 1.000 pfam_PI3K_C2_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 45 14 23.73 83 0 0.00 PIK3C3 5289 genome.wustl.edu 37 18 39593447 39593447 + Missense_Mutation SNP A A C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 18 39593447 39593447 A C SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.1212 p.K404N 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 18 48 72.73 100 0 0.00 PIK3C3 5289 genome.wustl.edu 37 18 39593471 39593471 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 39593471 39593471 G C SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.1236 p.K412N 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 29 19 39.58 38 0 0.00 PIK3C3 5289 genome.wustl.edu 37 18 39644745 39644745 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 39644745 39644745 A T SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.2474 p.D825V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 14 8 36.36 23 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 178916726 178916726 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.113 p.R38H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 27 16 37.21 30 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916836 178916836 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 178916836 178916836 C G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.223 p.Q75E 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 37 17 31.48 55 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916854 178916854 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 178916854 178916854 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.241 p.E81K 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 86 12 12.24 63 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916881 178916881 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 178916881 178916881 T C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.268 p.C90R 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 53 14 20.90 29 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916890 178916890 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 178916890 178916890 C T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.277 p.R93W 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 41 47 53.41 72 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916930 178916930 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 178916930 178916930 G T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.317 p.G106V 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 26 7 21.21 45 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 178916944 178916944 A G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.331 p.K111E 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 11 7 38.89 19 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.353 p.G118D 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 42 12 22.22 41 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178921533 178921533 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 178921533 178921533 C A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1015 p.L339I 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 10 8 44.44 32 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178921549 178921549 + Missense_Mutation SNP T T G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 3 178921549 178921549 T G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1031 p.V344G 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 72 28 28.00 104 1 0.95 PIK3CA 5290 genome.wustl.edu 37 3 178927432 178927432 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 178927432 178927432 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1195 p.A399T 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 70 11 13.58 101 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 77 17 18.09 25 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 105 20 16.00 88 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 47 32 40.51 66 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 54 18 25.00 61 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 23 32.39 48 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 16 26.67 50 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 22 35 61.40 64 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 50 7 12.28 50 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 157 100 38.91 102 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 102 52 33.55 38 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 56 35 38.46 47 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 55 26 32.10 135 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 13 22.81 80 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 51 15 22.73 42 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 14 24.14 20 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 215 49 18.56 29 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 279 59 17.30 35 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 51 12 19.05 34 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 56 14 20.00 54 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 52 57 52.29 66 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 33 14 29.79 43 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 71 28 28.28 53 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 32 17 34.69 59 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 59 36 37.89 40 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 50 31 38.27 49 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 41 26 38.81 68 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 30 30 50.00 37 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 32 52 61.90 67 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 11 14 56.00 43 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 58 15 20.55 67 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 50 41 45.05 67 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 11 18.33 51 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 70 25 26.32 39 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 124 155 55.56 61 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 59 18 23.38 60 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 192 50 20.66 97 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 57 16 21.92 61 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 52 66 55.93 45 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 178936091 178936091 G C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545Q 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 55 9 14.06 18 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 3 178936095 178936095 A G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1637 p.Q546R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 40 13 24.53 60 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178937410 178937410 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 178937410 178937410 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1798 p.E600K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 37 9 19.57 26 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 18 84 82.35 63 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 47 9 16.07 31 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 44 47.83 88 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 178951964 178951964 G C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3019 p.G1007R 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 41 5 10.87 31 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 12 5 29.41 15 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 11 7 38.89 14 0 0.00 PIK3CA 5290 genome.wustl.edu 37 3 178952086 178952086 + Missense_Mutation SNP T T G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 3 178952086 178952086 T G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3141 p.H1047Q 0.722 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 27 16 37.21 35 0 0.00 PIK3CB 5291 genome.wustl.edu 37 3 138383904 138383904 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 138383904 138383904 C T SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known silent c.2646 p.L882 0.941 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 12 3 20.00 20 0 0.00 PIK3CB 5291 genome.wustl.edu 37 3 138433528 138433528 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138433528 138433528 C T SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known missense c.1084 p.E362K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 22 10 31.25 49 0 0.00 PIK3CB 5291 genome.wustl.edu 37 3 138453525 138453525 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138453525 138453525 G A SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known missense c.923 p.S308L 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 70 12 14.46 68 0 0.00 PIK3CD 5293 genome.wustl.edu 37 1 9784049 9784049 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 9784049 9784049 G A SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known missense c.2689 p.E897K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 64 17 20.99 109 0 0.00 PIK3CD 5293 genome.wustl.edu 37 1 9784411 9784411 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 9784411 9784411 C T SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known silent c.2868 p.F956 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 25 23 47.92 46 0 0.00 PIK3CD 5293 genome.wustl.edu 37 1 9784991 9784991 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 9784991 9784991 C T SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known silent c.3066 p.L1022 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 36 4 10.00 21 0 0.00 PIK3CG 5294 genome.wustl.edu 37 7 106508173 106508173 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 106508173 106508173 C T SNP PIK3CG ENST00000359195 human ensembl 70_37 +1 known missense c.167 p.T56M 0.380 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 25 11 30.56 36 0 0.00 PIK3CG 5294 genome.wustl.edu 37 7 106508780 106508780 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 106508780 106508780 G C SNP PIK3CG ENST00000359195 human ensembl 70_37 +1 known silent c.774 p.L258 0.987 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 24 23 47.92 40 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67522531 67522531 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 67522531 67522531 G A SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.28 p.A10T 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 68 17 20.00 95 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67522532 67522532 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 67522532 67522532 C T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.29 p.A10V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 68 17 19.77 98 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67522828 67522828 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 67522828 67522828 G A SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 11 5 31.25 13 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67576382 67576382 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 67576382 67576382 C G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.661 p.Q221E 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 31 13 29.55 23 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67589255 67589255 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67589255 67589255 C T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known nonsense c.1243 p.Q415* 1.000 pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 56 19 25.00 58 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67589548 67589548 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 67589548 67589548 C G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known silent c.1311 p.V437 1.000 superfamily_Guanylate-bd_C,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 17 12 41.38 30 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67589631 67589631 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67589631 67589631 G C SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1394 p.R465T 1.000 superfamily_Guanylate-bd_C pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 55 16 22.22 47 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67591079 67591079 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67591079 67591079 G C SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1672 p.E558Q 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 49 29 37.18 70 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67591082 67591082 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 67591082 67591082 A G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1675 p.I559V 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 89 30 25.21 118 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67591128 67591128 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67591128 67591128 G T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1721 p.R574I 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 73 29 28.43 72 0 0.00 PIK3R1 5295 genome.wustl.edu 37 5 67591146 67591147 + In_Frame_Ins INS - - CTT TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 5 67591146 67591147 - CTT INS PIK3R1 ENST00000396611 human ensembl 70_37 +1 known in_frame_ins c.1739_1740 p.581in_frame_insF 1.000:1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 47 21 30.88 66 0 0.00 PIK3R2 5296 genome.wustl.edu 37 19 18271291 18271291 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18271291 18271291 C G SNP PIK3R2 ENST00000222254 human ensembl 70_37 +1 known silent c.333 p.L111 0.983 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 27 18 40.00 45 0 0.00 PIK3R2 5296 genome.wustl.edu 37 19 18273798 18273798 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 18273798 18273798 G C SNP PIK3R2 ENST00000222254 human ensembl 70_37 +1 known silent c.1131 p.L377 0.832 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 24 7 22.58 24 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46509193 46509193 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 46509193 46509193 C T SNP PIK3R3 ENST00000488808 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors PIK3R3 HGNC ENSG00000117461 22 15 40.54 29 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46509304 46509304 + RNA SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 46509304 46509304 G C SNP PIK3R3 ENST00000488808 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PIK3R3 HGNC ENSG00000117461 50 18 26.47 41 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46512224 46512224 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 46512224 46512224 C T SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.1153 p.E385K 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 37 17 31.48 57 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46512229 46512229 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 46512229 46512229 G C SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.1148 p.A383G 0.991 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 50 26 34.21 40 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46546413 46546413 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 46546413 46546413 G C SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.254 p.P85R 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 49 14 22.22 76 0 0.00 PIK3R3 8503 genome.wustl.edu 37 1 46546420 46546420 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 46546420 46546420 G A SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.247 p.L83F 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 77 18 18.95 62 0 0.00 PIK3R4 30849 genome.wustl.edu 37 3 130399528 130399528 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 130399528 130399528 C T SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known missense c.3835 p.V1279I 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 43 9 17.31 26 0 0.00 PIK3R4 30849 genome.wustl.edu 37 3 130435286 130435286 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 130435286 130435286 G A SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known missense c.2285 p.P762L 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 62 9 12.68 42 0 0.00 PIK3R4 30849 genome.wustl.edu 37 3 130463841 130463841 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 130463841 130463841 C G SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known silent c.222 p.L74 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 34 13 27.66 32 0 0.00 PIK3R6 146850 genome.wustl.edu 37 17 8736353 8736353 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 8736353 8736353 G C SNP PIK3R6 ENST00000311434 human ensembl 70_37 -1 known rna NULL NULL 0.786 - - - no_errors PIK3R6 HGNC ENSG00000174083 15 32 68.09 19 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209136281 209136281 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 209136281 209136281 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.38 p.S13F 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 29 23 44.23 56 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209138367 209138367 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 209138367 209138367 C G SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.232 p.Q78E 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 41 17 28.81 31 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209138439 209138439 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 209138439 209138439 C A SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.304 p.R102 0.993 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 28 15 34.88 70 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209192951 209192951 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 209192951 209192951 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.3666 p.F1222 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 37 13 26.00 36 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209192951 209192951 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 209192951 209192951 C T SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.3666 p.F1222 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 55 10 15.38 192 0 0.00 PIKFYVE 200576 genome.wustl.edu 37 2 209218783 209218783 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 209218783 209218783 C G SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.6006 p.I2002M 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 20 13 39.39 84 0 0.00 PILRA 29992 genome.wustl.edu 37 7 99997548 99997548 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99997548 99997548 C T SNP PILRA ENST00000453419 human ensembl 70_37 +1 novel nonsense c.673 p.Q225* 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PILRA HGNC ENSG00000085514 31 8 20.51 25 0 0.00 PILRA 29992 genome.wustl.edu 37 7 99997555 99997555 + Nonstop_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 99997555 99997555 G C SNP PILRA ENST00000453419 human ensembl 70_37 +1 novel nonstop c.680 p.*227S 0.006 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PILRA HGNC ENSG00000085514 16 8 33.33 35 0 0.00 PILRB 29990 genome.wustl.edu 37 7 99949970 99949970 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 99949970 99949970 G A SNP PILRB ENST00000470714 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors PILRB HGNC ENSG00000121716 19 8 29.63 63 0 0.00 PILRB 29990 genome.wustl.edu 37 7 99956689 99956689 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 99956689 99956689 C G SNP PILRB ENST00000448382 human ensembl 70_37 +1 known missense c.598 p.H200D 0.091 NULL NULL - no_errors PILRB HGNC ENSG00000121716 22 11 33.33 38 0 0.00 PIM1 5292 genome.wustl.edu 37 6 37138618 37138618 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 37138618 37138618 C G SNP PIM1 ENST00000373509 human ensembl 70_37 +1 known missense c.152 p.S51W 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM1 HGNC ENSG00000137193 6 9 60.00 14 0 0.00 PIM1 5292 genome.wustl.edu 37 6 37138993 37138993 + Silent SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 37138993 37138993 G A SNP PIM1 ENST00000373509 human ensembl 70_37 +1 known silent c.333 p.E111 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM1 HGNC ENSG00000137193 56 10 15.15 105 0 0.00 PIM1 5292 genome.wustl.edu 37 6 37141960 37141960 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 37141960 37141960 C T SNP PIM1 ENST00000468243 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIM1 HGNC ENSG00000137193 19 14 42.42 32 0 0.00 PIM2 11040 genome.wustl.edu 37 X 48772318 48772318 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c X 48772318 48772318 C G SNP PIM2 ENST00000376509 human ensembl 70_37 -1 known missense c.574 p.E192Q 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM2 HGNC ENSG00000102096 63 28 30.77 87 0 0.00 PIM3 415116 genome.wustl.edu 37 22 50355296 50355296 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 50355296 50355296 C T SNP PIM3 ENST00000360612 human ensembl 70_37 +1 known silent c.453 p.F151 0.971 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM3 HGNC ENSG00000198355 17 5 22.73 34 0 0.00 PIN1 5300 genome.wustl.edu 37 19 9959799 9959799 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 9959799 9959799 T C SNP PIN1 ENST00000247970 human ensembl 70_37 +1 known missense c.416 p.F139S 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 66 53 44.54 105 0 0.00 PIN1P1 5301 genome.wustl.edu 37 1 70385032 70385032 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70385032 70385032 G A SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors PIN1P1 HGNC ENSG00000229359 33 18 35.29 57 0 0.00 PIN1P1 5301 genome.wustl.edu 37 1 70385044 70385044 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 70385044 70385044 C T SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors PIN1P1 HGNC ENSG00000229359 76 9 10.59 65 0 0.00 PIN1P1 5301 genome.wustl.edu 37 1 70385093 70385093 + RNA SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 70385093 70385093 C T SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors PIN1P1 HGNC ENSG00000229359 59 10 14.49 60 0 0.00 PIN4 5303 genome.wustl.edu 37 X 71406221 71406221 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 71406221 71406221 G A SNP PIN4 ENST00000373662 human ensembl 70_37 +1 known missense c.256 p.D86N 0.000 NULL NULL - no_errors PIN4 HGNC ENSG00000102309 7 3 30.00 17 0 0.00 PINK1 65018 genome.wustl.edu 37 1 20966400 20966400 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 20966400 20966400 G A SNP PINK1 ENST00000321556 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PINK1 HGNC ENSG00000158828 37 19 33.93 75 0 0.00 PINK1 65018 genome.wustl.edu 37 1 20977197 20977197 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 20977197 20977197 G A SNP PINK1 ENST00000400490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PINK1 HGNC ENSG00000158828 27 14 34.15 54 0 0.00 PINK1 65018 genome.wustl.edu 37 1 20977205 20977205 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 20977205 20977205 G A SNP PINK1 ENST00000400490 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PINK1 HGNC ENSG00000158828 23 9 28.12 37 0 0.00 PINK1-AS 100861548 genome.wustl.edu 37 1 20976831 20976831 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 20976831 20976831 G T SNP PINK1-AS ENST00000451424 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors PINK1-AS HGNC ENSG00000117242 27 19 41.30 57 0 0.00 PINX1 54984 genome.wustl.edu 37 8 10623045 10623045 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 10623045 10623045 C T SNP PINX1 ENST00000314787 human ensembl 70_37 -1 known missense c.853 p.E285K 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 14 4 22.22 9 0 0.00 PINX1 54984 genome.wustl.edu 37 8 10623360 10623360 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 10623360 10623360 C T SNP PINX1 ENST00000314787 human ensembl 70_37 -1 known missense c.538 p.E180K 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 65 23 26.14 94 0 0.00 GSAP 54103 genome.wustl.edu 37 7 76982319 76982319 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76982319 76982319 G C SNP PION ENST00000257626 human ensembl 70_37 -1 known nonsense c.1433 p.S478* 0.026 NULL NULL - no_errors PION HGNC ENSG00000186088 0 8 100.00 41 0 0.00 GSAP 54103 genome.wustl.edu 37 7 77010632 77010632 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 77010632 77010632 C A SNP PION ENST00000257626 human ensembl 70_37 -1 known missense c.566 p.G189V 0.944 NULL NULL - no_errors PION HGNC ENSG00000186088 73 37 33.64 120 0 0.00 PIP4K2A 5305 genome.wustl.edu 37 10 22825873 22825873 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 22825873 22825873 C T SNP PIP4K2A ENST00000474335 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIP4K2A HGNC ENSG00000150867 8 10 55.56 17 0 0.00 PIP4K2A 5305 genome.wustl.edu 37 10 22839628 22839628 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 22839628 22839628 T C SNP PIP4K2A ENST00000376573 human ensembl 70_37 -1 known missense c.752 p.N251S 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 123 22 15.17 105 1 0.94 PIP4K2B 8396 genome.wustl.edu 37 17 36935684 36935684 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 36935684 36935684 C T SNP PIP4K2B ENST00000269554 human ensembl 70_37 -1 known silent c.606 p.R202 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 42 15 26.32 32 0 0.00 PIP4K2C 79837 genome.wustl.edu 37 12 57985144 57985144 + Silent SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 57985144 57985144 C T SNP PIP4K2C ENST00000354947 human ensembl 70_37 +1 known silent c.72 p.F24 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 55 32 36.78 29 0 0.00 PIP5K1A 8394 genome.wustl.edu 37 1 151206945 151206945 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 151206945 151206945 C T SNP PIP5K1A ENST00000368888 human ensembl 70_37 +1 known silent c.912 p.L304 0.254 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 190 35 15.56 174 0 0.00 PIP5K1A 8394 genome.wustl.edu 37 1 151220422 151220422 + Nonstop_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151220422 151220422 G C SNP PIP5K1A ENST00000414290 human ensembl 70_37 +1 known nonstop c.596 p.*199S 0.998 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 34 5 12.82 39 0 0.00 PIP5K1B 8395 genome.wustl.edu 37 9 71532470 71532470 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 71532470 71532470 G C SNP PIP5K1B ENST00000478500 human ensembl 70_37 +1 known missense c.898 p.E300Q 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1B HGNC ENSG00000107242 64 14 17.95 69 0 0.00 PIP5K1C 23396 genome.wustl.edu 37 19 3648672 3648672 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3648672 3648672 C T SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.1162 p.E388K 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 91 31 25.20 66 0 0.00 PIP5K1C 23396 genome.wustl.edu 37 19 3653299 3653299 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 3653299 3653299 G A SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.910 p.R304W 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 21 9 30.00 32 0 0.00 PIP5K1C 23396 genome.wustl.edu 37 19 3656474 3656474 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 3656474 3656474 C T SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 65 15 18.75 70 0 0.00 PIPSL 266971 genome.wustl.edu 37 10 95719284 95719284 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 95719284 95719284 C G SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 57 38 39.58 94 0 0.00 PIPSL 266971 genome.wustl.edu 37 10 95719906 95719906 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 95719906 95719906 G C SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 0.997 - - - no_errors PIPSL HGNC ENSG00000180764 50 32 39.02 65 0 0.00 PIPSL 266971 genome.wustl.edu 37 10 95720338 95720338 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 95720338 95720338 G C SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 0.858 - - - no_errors PIPSL HGNC ENSG00000180764 45 26 36.62 84 0 0.00 PIPSL 266971 genome.wustl.edu 37 10 95720477 95720477 + RNA SNP G G T TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 10 95720477 95720477 G T SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 46 8 14.81 77 0 0.00 PIR 8544 genome.wustl.edu 37 X 15408179 15408179 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 15408179 15408179 C T SNP PIR ENST00000484433 human ensembl 70_37 -1 known rna NULL NULL 0.086 - - - no_errors PIR HGNC ENSG00000087842 25 10 28.57 40 0 0.00 PIR 8544 genome.wustl.edu 37 X 15444055 15444055 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 15444055 15444055 G A SNP PIR ENST00000380420 human ensembl 70_37 -1 known missense c.539 p.A180V 1.000 pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 125 65 34.21 192 0 0.00 PIR 8544 genome.wustl.edu 37 X 15509413 15509413 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 15509413 15509413 G A SNP PIR ENST00000471725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIR HGNC ENSG00000087842 108 39 26.53 168 0 0.00 PIRT 644139 genome.wustl.edu 37 17 10728847 10728847 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10728847 10728847 G A SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.116 p.S39F 1.000 NULL NULL - no_errors PIRT HGNC ENSG00000233670 27 21 43.75 58 0 0.00 PIRT 644139 genome.wustl.edu 37 17 10728889 10728889 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 10728889 10728889 C A SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.74 p.S25I 1.000 NULL NULL - no_errors PIRT HGNC ENSG00000233670 40 14 25.93 31 0 0.00 PIRT 644139 genome.wustl.edu 37 17 10728932 10728932 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10728932 10728932 C G SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.990 NULL NULL - no_errors PIRT HGNC ENSG00000233670 18 21 53.85 35 0 0.00 PITHD1 57095 genome.wustl.edu 37 1 24112168 24112168 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 24112168 24112168 C G SNP PITHD1 ENST00000246151 human ensembl 70_37 +1 known nonsense c.324 p.Y108* 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC ENSG00000057757 97 12 11.01 65 0 0.00 PITHD1 57095 genome.wustl.edu 37 1 24113777 24113777 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 24113777 24113777 G A SNP PITHD1 ENST00000246151 human ensembl 70_37 +1 known missense c.547 p.E183K 1.000 NULL pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC ENSG00000057757 38 9 19.15 48 0 0.00 PITPNA 5306 genome.wustl.edu 37 17 1456312 1456312 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 1456312 1456312 G C SNP PITPNA ENST00000313486 human ensembl 70_37 -1 known missense c.183 p.I61M 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNA HGNC ENSG00000174238 56 45 44.55 89 0 0.00 PITPNB 23760 genome.wustl.edu 37 22 28307052 28307052 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 28307052 28307052 C G SNP PITPNB ENST00000455418 human ensembl 70_37 -1 known missense c.103 p.E35Q 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC ENSG00000180957 24 18 42.86 39 0 0.00 PITPNC1 26207 genome.wustl.edu 37 17 65671646 65671646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 65671646 65671646 G A SNP PITPNC1 ENST00000335257 human ensembl 70_37 +1 known missense c.670 p.D224N 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 51 26 33.77 93 0 0.00 PITPNM1 9600 genome.wustl.edu 37 11 67260519 67260519 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 67260519 67260519 G A SNP PITPNM1 ENST00000356404 human ensembl 70_37 -1 known silent c.3357 p.I1119 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 64 21 24.71 68 0 0.00 PITPNM1 9600 genome.wustl.edu 37 11 67267839 67267839 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67267839 67267839 C G SNP PITPNM1 ENST00000356404 human ensembl 70_37 -1 known missense c.694 p.E232Q 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 32 15 31.91 43 0 0.00 PITPNM2 57605 genome.wustl.edu 37 12 123471369 123471369 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 123471369 123471369 G T SNP PITPNM2 ENST00000320201 human ensembl 70_37 -1 known missense c.3421 p.Q1141K 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 42 19 31.15 73 0 0.00 PITPNM2 57605 genome.wustl.edu 37 12 123494554 123494554 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 123494554 123494554 G A SNP PITPNM2 ENST00000320201 human ensembl 70_37 -1 known silent c.486 p.F162 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 178 33 15.64 224 0 0.00 PITPNM3 83394 genome.wustl.edu 37 17 6360959 6360959 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6360959 6360959 G A SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known silent c.2574 p.I858 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 59 28 32.18 76 0 0.00 PITPNM3 83394 genome.wustl.edu 37 17 6367192 6367192 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 6367192 6367192 C G SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known missense c.2166 p.Q722H 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 28 19 40.43 54 0 0.00 PITPNM3 83394 genome.wustl.edu 37 17 6381313 6381313 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6381313 6381313 C A SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known silent c.882 p.G294 0.997 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 62 20 24.39 69 0 0.00 PITPNM3 83394 genome.wustl.edu 37 17 6387600 6387600 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 6387600 6387600 C T SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known missense c.287 p.R96Q 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 107 53 32.32 166 0 0.00 PITPNM3 83394 genome.wustl.edu 37 17 6387600 6387600 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 6387600 6387600 C T SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known missense c.287 p.R96Q 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 37 17 31.48 21 0 0.00 PITRM1 10531 genome.wustl.edu 37 10 3180157 3180157 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 3180157 3180157 G A SNP PITRM1 ENST00000464395 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 5 8 61.54 8 0 0.00 PITRM1 10531 genome.wustl.edu 37 10 3180552 3180552 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 3180552 3180552 G A SNP PITRM1 ENST00000490510 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 7 11 61.11 36 0 0.00 PITRM1 10531 genome.wustl.edu 37 10 3185849 3185849 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 3185849 3185849 C T SNP PITRM1 ENST00000464395 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 36 11 23.40 42 0 0.00 PITRM1 10531 genome.wustl.edu 37 10 3199698 3199698 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 3199698 3199698 C T SNP PITRM1 ENST00000380989 human ensembl 70_37 -1 known missense c.1276 p.E426K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd - no_errors PITRM1 HGNC ENSG00000107959 33 4 10.81 31 0 0.00 PITX1 5307 genome.wustl.edu 37 5 134364558 134364558 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364558 134364558 G T SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known silent c.856 p.R286 0.994 pfam_OAR_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 51 13 20.00 83 0 0.00 PITX1 5307 genome.wustl.edu 37 5 134364608 134364608 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364608 134364608 G C SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known missense c.806 p.S269W 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 46 14 23.33 77 0 0.00 PITX1 5307 genome.wustl.edu 37 5 134364763 134364763 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364763 134364763 G C SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known silent c.651 p.P217 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 114 52 31.33 172 0 0.00 PITX2 5308 genome.wustl.edu 37 4 111542526 111542526 + Splice_Site SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 111542526 111542526 C T SNP PITX2 ENST00000306732 human ensembl 70_37 -1 known splice_site c.206-1 e2-1 1.000 - - - no_errors PITX2 HGNC ENSG00000164093 82 16 16.33 91 0 0.00 PITX2 5308 genome.wustl.edu 37 4 111553603 111553603 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 111553603 111553603 G T SNP PITX2 ENST00000354925 human ensembl 70_37 -1 known missense c.80 p.S27Y 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX2 HGNC ENSG00000164093 14 8 36.36 15 0 0.00 PITX3 5309 genome.wustl.edu 37 10 103990664 103990664 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 103990664 103990664 G A SNP PITX3 ENST00000370002 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX3 HGNC ENSG00000107859 23 7 23.33 20 0 0.00 PITX3 5309 genome.wustl.edu 37 10 103990725 103990725 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 103990725 103990725 G T SNP PITX3 ENST00000370002 human ensembl 70_37 -1 known nonsense c.455 p.S152* 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX3 HGNC ENSG00000107859 9 4 30.77 15 0 0.00 PIWIL1 9271 genome.wustl.edu 37 12 130827568 130827568 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 130827568 130827568 C T SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known nonsense c.112 p.Q38* 0.817 pfam_GAGE pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 53 30 36.14 99 0 0.00 PIWIL1 9271 genome.wustl.edu 37 12 130842072 130842072 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 130842072 130842072 C T SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known nonsense c.1639 p.Q547* 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 43 35 44.87 97 0 0.00 PIWIL1 9271 genome.wustl.edu 37 12 130856118 130856118 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 130856118 130856118 T C SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known missense c.2561 p.L854P 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 104 49 32.03 147 0 0.00 PIWIL2 55124 genome.wustl.edu 37 8 22141712 22141712 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 22141712 22141712 C T SNP PIWIL2 ENST00000356766 human ensembl 70_37 +1 known nonsense c.670 p.Q224* 0.596 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 33 26 44.07 82 0 0.00 PIWIL2 55124 genome.wustl.edu 37 8 22171928 22171928 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 8 22171928 22171928 C A SNP PIWIL2 ENST00000356766 human ensembl 70_37 +1 known missense c.2077 p.P693T 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 24 4 14.29 30 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25115784 25115784 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 25115784 25115784 C T SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known silent c.2463 p.T821 0.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 47 20 29.85 87 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25123947 25123947 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 25123947 25123947 A C SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.2006 p.F669C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 21 24 53.33 83 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25144974 25144974 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 25144974 25144974 C T SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.1349 p.R450Q 0.009 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 34 9 20.93 30 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25150144 25150144 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25150144 25150144 G A SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.814 p.L272F 0.999 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 15 14 48.28 28 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25155919 25155919 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 25155919 25155919 G A SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.140 p.P47L 0.000 NULL pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 57 27 32.14 59 0 0.00 PIWIL3 440822 genome.wustl.edu 37 22 25158460 25158460 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 25158460 25158460 C G SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.7 p.G3R 0.736 NULL pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 21 6 22.22 33 0 0.00 PIWIL4 143689 genome.wustl.edu 37 11 94316638 94316638 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 94316638 94316638 C G SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known missense c.538 p.Q180E 0.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 29 9 23.68 45 0 0.00 PIWIL4 143689 genome.wustl.edu 37 11 94326762 94326762 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 94326762 94326762 G A SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known missense c.1105 p.E369K 0.441 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 109 19 14.84 141 0 0.00 PIWIL4 143689 genome.wustl.edu 37 11 94337148 94337148 + Splice_Site SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 94337148 94337148 A G SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known splice_site c.1566-2 e13-2 1.000 - - - no_errors PIWIL4 HGNC ENSG00000134627 26 7 21.21 21 0 0.00 PIWIL4 143689 genome.wustl.edu 37 11 94341823 94341823 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 94341823 94341823 C T SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known silent c.1914 p.C638 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 196 46 18.85 303 0 0.00 PJA1 64219 genome.wustl.edu 37 X 68381222 68381222 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 68381222 68381222 C T SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known silent c.1860 p.P620 0.144 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 48 23 32.39 47 0 0.00 PJA1 64219 genome.wustl.edu 37 X 68382228 68382228 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 68382228 68382228 T C SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known missense c.854 p.H285R 0.152 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 28 15 34.88 65 0 0.00 PJA1 64219 genome.wustl.edu 37 X 68383010 68383010 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 68383010 68383010 C T SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known silent c.72 p.R24 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 156 21 11.73 182 0 0.00 PJA2 9867 genome.wustl.edu 37 5 108698712 108698712 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 108698712 108698712 G A SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.1481 p.S494F 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 59 40 40.40 59 0 0.00 PJA2 9867 genome.wustl.edu 37 5 108698717 108698717 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 108698717 108698717 C G SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.1476 p.Q492H 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 55 38 40.86 53 0 0.00 PJA2 9867 genome.wustl.edu 37 5 108704312 108704312 + Silent SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 108704312 108704312 A G SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known silent c.1419 p.S473 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 22 10 31.25 29 0 0.00 PJA2 9867 genome.wustl.edu 37 5 108714347 108714347 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 108714347 108714347 G T SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.841 p.H281N 0.645 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 10 3 23.08 18 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2139796 2139796 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2139796 2139796 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.12844 p.D4282H 0.004 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 10 13 56.52 27 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2142996 2142996 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2142996 2142996 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.11115 p.I3705 1.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 26 13 33.33 44 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2143682 2143682 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 2143682 2143682 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.10879 p.D3627H 0.983 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 71 36 33.33 72 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2150481 2150481 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 2150481 2150481 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.9484 p.R3162C 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 147 70 32.11 149 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2152434 2152434 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 2152434 2152434 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.9149 p.A3050D 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 74 11 12.79 111 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2152631 2152631 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 2152631 2152631 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.8952 p.S2984R 0.006 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 84 43 33.86 87 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2155420 2155420 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2155420 2155420 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.7919 p.A2640V 0.873 pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 140 31 18.13 161 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2157691 2157691 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2157691 2157691 G C SNP PKD1 ENST00000483558 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PKD1 HGNC ENSG00000008710 34 8 19.05 45 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2158331 2158331 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 16 2158331 2158331 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.6837 p.S2279 0.946 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 24 29 54.72 96 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2158445 2158445 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2158445 2158445 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.6723 p.L2241 0.900 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 50 41 45.05 97 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2158464 2158464 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 2158464 2158464 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.6704 p.S2235L 1.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 40 9 18.37 39 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2158721 2158721 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2158721 2158721 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.6447 p.P2149 0.000 superfamily_PKD_dom,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 39 26 40.00 76 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2159612 2159612 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 2159612 2159612 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.5556 p.V1852 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 62 22 26.19 43 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2159882 2159882 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2159882 2159882 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.5286 p.T1762 0.069 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 154 44 22.22 162 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2160693 2160693 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2160693 2160693 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.4475 p.R1492H 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 78 26 25.00 119 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2161289 2161289 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2161289 2161289 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.3879 p.V1293 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 61 36 37.11 112 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2161292 2161292 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2161292 2161292 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.3876 p.F1292 0.975 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 155 77 33.19 76 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2164353 2164353 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2164353 2164353 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.2671 p.D891N 0.000 pfam_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 39 16 29.09 60 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2168330 2168330 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2168330 2168330 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.663 p.L221 0.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 29 11 27.50 43 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2168727 2168727 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 2168727 2168727 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.479 p.S160F 0.245 smart_Cys-rich_flank_reg_C,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 46 42 47.73 95 0 0.00 PKD1 5310 genome.wustl.edu 37 16 2169358 2169358 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 2169358 2169358 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.237 p.L79 0.965 smart_Leu-rich_rpt_typical-subtyp pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 198 28 12.33 176 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47869022 47869022 + Splice_Site SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 47869022 47869022 C A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known splice_site c.6735+1 e44+1 0.093 - - - no_errors PKD1L1 HGNC ENSG00000158683 31 4 11.11 33 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47879139 47879139 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 47879139 47879139 A G SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.5674 p.F1892L 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 58 66 52.80 31 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47880142 47880142 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 47880142 47880142 G A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known silent c.5469 p.D1823 0.769 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 80 28 25.93 87 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47886542 47886542 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 47886542 47886542 C A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.5088 p.K1696N 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 71 14 16.47 59 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47897295 47897295 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 47897295 47897295 G C SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.4498 p.P1500A 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 22 10 31.25 25 0 0.00 PKD1L1 168507 genome.wustl.edu 37 7 47942089 47942089 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 47942089 47942089 C T SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.1951 p.E651K 0.978 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 53 16 23.19 75 0 0.00 PKD1L2 114780 genome.wustl.edu 37 16 81208268 81208268 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 81208268 81208268 G A SNP PKD1L2 ENST00000527937 human ensembl 70_37 -1 known silent c.603 p.V201 0.057 pfscan_REJ-like superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like - no_errors DKFZP686J19100 Uniprot_genename ENSG00000166473 32 17 34.69 33 0 0.00 PKD1L2 114780 genome.wustl.edu 37 16 81248664 81248664 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 81248664 81248664 G A SNP PKD1L2 ENST00000337114 human ensembl 70_37 -1 known missense c.599 p.S200L 0.020 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors DKFZP686J19100 Uniprot_genename ENSG00000166473 37 13 26.00 61 0 0.00 PKD1L2 114780 genome.wustl.edu 37 16 81253777 81253777 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 81253777 81253777 G C SNP PKD1L2 ENST00000337114 human ensembl 70_37 -1 known missense c.199 p.Q67E 0.175 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors DKFZP686J19100 Uniprot_genename ENSG00000166473 29 21 42.00 50 0 0.00 PKD1L3 342372 genome.wustl.edu 37 16 71986853 71986853 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71986853 71986853 G C SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 3 12 80.00 16 0 0.00 PKD1L3 342372 genome.wustl.edu 37 16 71997209 71997209 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 71997209 71997209 C G SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.711 - - - no_errors PKD1L3 HGNC ENSG00000187008 41 13 24.07 75 0 0.00 PKD1L3 342372 genome.wustl.edu 37 16 72017957 72017957 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 72017957 72017957 G A SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PKD1L3 HGNC ENSG00000187008 42 10 19.23 89 0 0.00 PKD1P5 348156 genome.wustl.edu 37 16 18478352 18478352 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18478352 18478352 G T SNP PKD1P5 ENST00000538166 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P5 HGNC ENSG00000254681 98 40 28.99 147 0 0.00 PKD1P5 348156 genome.wustl.edu 37 16 18484682 18484682 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18484682 18484682 G A SNP PKD1P5 ENST00000542593 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors PKD1P5 HGNC ENSG00000254681 16 14 46.67 37 0 0.00 PKD1P6 353511 genome.wustl.edu 37 16 15227409 15227409 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 15227409 15227409 G A SNP PKD1P6 ENST00000540075 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors PKD1P6 HGNC ENSG00000250251 28 14 33.33 31 0 0.00 PKD1P6 353511 genome.wustl.edu 37 16 15230482 15230482 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 15230482 15230482 C T SNP PKD1P6 ENST00000538100 human ensembl 70_37 -1 known rna NULL NULL 0.871 - - - no_errors PKD1P6 HGNC ENSG00000250251 22 3 12.00 32 0 0.00 PKD2 5311 genome.wustl.edu 37 4 88959628 88959628 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 88959628 88959628 C T SNP PKD2 ENST00000237596 human ensembl 70_37 +1 known missense c.1069 p.P357S 0.999 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 20 10 33.33 20 0 0.00 PKD2 5311 genome.wustl.edu 37 4 88986631 88986631 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 88986631 88986631 C T SNP PKD2 ENST00000237596 human ensembl 70_37 +1 known nonsense c.2224 p.R742* 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 17 10 37.04 35 0 0.00 PKD2L1 9033 genome.wustl.edu 37 10 102051081 102051081 + Nonsense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 102051081 102051081 G A SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known nonsense c.1984 p.R662* 0.876 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 88 26 22.61 163 0 0.00 PKD2L1 9033 genome.wustl.edu 37 10 102057141 102057141 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 102057141 102057141 C G SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known silent c.954 p.L318 1.000 pfam_PKD1_2_channel,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 21 5 19.23 20 0 0.00 PKD2L1 9033 genome.wustl.edu 37 10 102057296 102057296 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 102057296 102057296 C T SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.799 p.G267R 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 15 18 54.55 27 0 0.00 PKD2L1 9033 genome.wustl.edu 37 10 102089003 102089003 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 102089003 102089003 A G SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.314 p.L105S 0.985 prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 39 27 40.91 88 0 0.00 PKD2L1 9033 genome.wustl.edu 37 10 102089754 102089754 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 102089754 102089754 C T SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.107 p.R36K 0.003 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 69 32 31.68 90 0 0.00 PKD2L2 27039 genome.wustl.edu 37 5 137235254 137235254 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 137235254 137235254 C G SNP PKD2L2 ENST00000508883 human ensembl 70_37 +1 known missense c.574 p.L192V 0.009 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 31 15 32.61 96 0 0.00 PKD2L2 27039 genome.wustl.edu 37 5 137275821 137275821 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 137275821 137275821 G C SNP PKD2L2 ENST00000290431 human ensembl 70_37 +1 known silent c.1827 p.L609 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 10 11 52.38 17 0 0.00 PKDCC 91461 genome.wustl.edu 37 2 42275816 42275816 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 42275816 42275816 C T SNP PKDCC ENST00000401498 human ensembl 70_37 +1 known missense c.335 p.A112V 1.000 NULL NULL - no_errors PKDCC HGNC ENSG00000162878 12 8 40.00 12 0 0.00 PKDCC 91461 genome.wustl.edu 37 2 42275817 42275817 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 42275817 42275817 G A SNP PKDCC ENST00000294964 human ensembl 70_37 +1 known missense c.478 p.G160S 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors PKDCC HGNC ENSG00000162878 11 11 50.00 12 0 0.00 PKDREJ 10343 genome.wustl.edu 37 22 46654350 46654350 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 46654350 46654350 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.4870 p.L1624 0.012 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC ENSG00000130943 16 8 33.33 33 0 0.00 PKDREJ 10343 genome.wustl.edu 37 22 46654366 46654366 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 46654366 46654366 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.4854 p.F1618 0.005 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC ENSG00000130943 18 12 40.00 36 0 0.00 PKDREJ 10343 genome.wustl.edu 37 22 46655437 46655437 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 46655437 46655437 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.3783 p.S1261 0.022 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC ENSG00000130943 27 17 38.64 56 0 0.00 PKDREJ 10343 genome.wustl.edu 37 22 46656322 46656322 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 46656322 46656322 G C SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.2898 p.L966 0.859 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC ENSG00000130943 31 18 36.73 41 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51483976 51483976 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 51483976 51483976 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.12128 p.S4043N 0.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 75 29 27.62 83 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51503660 51503660 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 51503660 51503660 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.11493 p.V3831 0.775 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 46 22 32.35 46 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51524491 51524491 + Frame_Shift_Del DEL G G - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 51524491 51524491 G - DEL PKHD1 ENST00000371117 human ensembl 70_37 -1 known frame_shift_del c.10433 p.P3478fs 0.986 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 11 2 15.38 43 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51613066 51613066 + Silent SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 51613066 51613066 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.9348 p.L3116 0.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 58 8 12.12 27 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51613210 51613210 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 51613210 51613210 C G SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.9204 p.M3068I 0.158 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 16 15 48.39 58 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51613396 51613396 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 51613396 51613396 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.9018 p.F3006L 0.905 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 12 7 36.84 16 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51619602 51619602 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 51619602 51619602 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8777 p.R2926Q 0.402 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 24 29 54.72 61 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51701256 51701256 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 51701256 51701256 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8119 p.G2707C 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 29 5 14.29 26 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51701256 51701256 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 51701256 51701256 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8119 p.G2707C 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 48 17 26.15 45 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51712645 51712645 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51712645 51712645 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8035 p.L2679V 0.042 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 47 17 26.15 48 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51732836 51732836 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 51732836 51732836 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.7558 p.H2520N 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 7 8 53.33 20 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51735351 51735351 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51735351 51735351 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.7437 p.L2479 0.000 smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 60 11 15.49 77 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51751999 51751999 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51751999 51751999 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.7041 p.L2347 0.989 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 74 28 27.45 72 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51799070 51799070 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 51799070 51799070 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.5959 p.A1987T 0.076 pfam_G8_domain pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 23 16 41.03 32 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51890945 51890945 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 51890945 51890945 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.3663 p.F1221L 0.168 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 12 7 36.84 13 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51907736 51907736 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 51907736 51907736 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.3018 p.I1006 0.027 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 38 8 17.39 65 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51907736 51907736 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51907736 51907736 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.3018 p.I1006 0.027 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 50 15 23.08 55 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51921520 51921520 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 51921520 51921520 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.1669 p.L557I 0.006 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 18 11 37.93 39 0 0.00 PKHD1 5314 genome.wustl.edu 37 6 51921587 51921587 + Splice_Site SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 51921587 51921587 C G SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known splice_site c.1603-1 e17-1 1.000 - - - no_errors PKHD1 HGNC ENSG00000170927 8 5 38.46 15 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110393634 110393634 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 110393634 110393634 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.199 p.D67N 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 17 5 22.73 18 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110400737 110400737 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 110400737 110400737 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.581 p.G194E 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 73 31 29.81 69 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110408272 110408272 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 110408272 110408272 C A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.828 p.F276L 0.326 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 43 32 42.11 51 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110417308 110417308 + Missense_Mutation SNP A A T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 8 110417308 110417308 A T SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.1618 p.N540Y 0.055 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 85 56 39.72 67 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110450559 110450559 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 110450559 110450559 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.3634 p.E1212K 0.997 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 51 13 20.31 50 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110456022 110456022 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 110456022 110456022 C G SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known nonsense c.4682 p.S1561* 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 40 13 24.53 68 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110460419 110460419 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 110460419 110460419 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.5824 p.E1942Q 0.770 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 58 13 18.31 50 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110461662 110461662 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110461662 110461662 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.6121 p.D2041N 0.133 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 23 11 32.35 66 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110463247 110463247 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 110463247 110463247 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.6219 p.G2073 0.979 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 42 14 25.00 32 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110476533 110476533 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 110476533 110476533 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.7472 p.R2491K 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 43 10 18.87 46 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110478922 110478922 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 110478922 110478922 C A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.8529 p.S2843R 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 23 4 14.29 25 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110478940 110478940 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 110478940 110478940 C T SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.8547 p.F2849 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 61 32 34.41 116 1 0.85 PKHD1L1 93035 genome.wustl.edu 37 8 110478968 110478968 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110478968 110478968 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.8575 p.E2859Q 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 77 19 19.79 55 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110497378 110497378 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 8 110497378 110497378 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.9682 p.D3228N 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 87 32 26.89 58 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110498980 110498980 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 110498980 110498980 T C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.9810 p.G3270 0.968 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 85 10 10.53 110 0 0.00 PKHD1L1 93035 genome.wustl.edu 37 8 110530692 110530692 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110530692 110530692 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.11986 p.E3996Q 0.998 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 22 8 26.67 45 0 0.00 PKIA 5569 genome.wustl.edu 37 8 79514021 79514021 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 79514021 79514021 G A SNP PKIA ENST00000352966 human ensembl 70_37 +1 known missense c.196 p.E66K 1.000 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC ENSG00000171033 79 11 12.22 49 0 0.00 PKIB 5570 genome.wustl.edu 37 6 123039060 123039060 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 123039060 123039060 G A SNP PKIB ENST00000368446 human ensembl 70_37 +1 known missense c.148 p.G50R 0.059 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIB HGNC ENSG00000135549 4 4 50.00 46 0 0.00 PKLR 5313 genome.wustl.edu 37 1 155263012 155263012 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155263012 155263012 G C SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.1392 p.F464L 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 44 34 43.59 53 0 0.00 PKLR 5313 genome.wustl.edu 37 1 155265458 155265458 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155265458 155265458 C T SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.373 p.E125K 0.997 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 56 15 21.13 66 0 0.00 PKLR 5313 genome.wustl.edu 37 1 155270044 155270044 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 155270044 155270044 C G SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.128 p.S43T 0.960 NULL pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 32 20 38.46 53 0 0.00 PKM 5315 genome.wustl.edu 37 15 72492830 72492830 + Missense_Mutation SNP A A T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 72492830 72492830 A T SNP PKM ENST00000319622 human ensembl 70_37 -1 known missense c.1474 p.F492I 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 48 24 32.88 70 0 0.00 PKM 5315 genome.wustl.edu 37 15 72502765 72502765 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 72502765 72502765 C T SNP PKM ENST00000319622 human ensembl 70_37 -1 known missense c.301 p.D101N 0.998 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 62 24 27.91 65 0 0.00 PKMYT1 9088 genome.wustl.edu 37 16 3022752 3022752 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 3022752 3022752 G C SNP PKMYT1 ENST00000431515 human ensembl 70_37 -1 putative silent c.1392 p.V464 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC ENSG00000127564 9 6 40.00 12 0 0.00 PKMYT1 9088 genome.wustl.edu 37 16 3025764 3025764 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 3025764 3025764 G T SNP PKMYT1 ENST00000262300 human ensembl 70_37 -1 known nonsense c.428 p.S143* 0.987 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC ENSG00000127564 30 16 34.78 83 0 0.00 PKMYT1 9088 genome.wustl.edu 37 16 3026898 3026898 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 3026898 3026898 G T SNP PKMYT1 ENST00000262300 human ensembl 70_37 -1 known silent c.145 p.R49 0.947 pirsf_Tyr/Thr_kinase_Cdc2_inhib pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC ENSG00000127564 96 45 31.69 91 0 0.00 PKN1 5585 genome.wustl.edu 37 19 14554355 14554355 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 14554355 14554355 G A SNP PKN1 ENST00000342216 human ensembl 70_37 +1 known silent c.414 p.E138 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN1 HGNC ENSG00000123143 23 12 34.29 29 0 0.00 PKN2 5586 genome.wustl.edu 37 1 89271180 89271180 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 89271180 89271180 G T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.1502 p.G501V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC ENSG00000065243 19 3 13.64 25 0 0.00 PKN2 5586 genome.wustl.edu 37 1 89273084 89273084 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 89273084 89273084 C T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.1892 p.S631L 0.235 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC ENSG00000065243 50 38 43.18 62 0 0.00 PKN2 5586 genome.wustl.edu 37 1 89273099 89273099 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 89273099 89273099 G T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.1907 p.S636I 0.512 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC ENSG00000065243 48 46 48.94 69 0 0.00 PKN2 5586 genome.wustl.edu 37 1 89287654 89287654 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 89287654 89287654 G T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.2310 p.L770F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC ENSG00000065243 35 4 10.26 32 0 0.00 PKN3 29941 genome.wustl.edu 37 9 131476384 131476384 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 131476384 131476384 C G SNP PKN3 ENST00000291906 human ensembl 70_37 +1 known missense c.1296 p.I432M 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC ENSG00000160447 68 40 37.04 131 0 0.00 PKN3 29941 genome.wustl.edu 37 9 131476870 131476870 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 131476870 131476870 G A SNP PKN3 ENST00000291906 human ensembl 70_37 +1 known missense c.1511 p.G504D 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC ENSG00000160447 60 7 10.45 107 0 0.00 PKNOX1 5316 genome.wustl.edu 37 21 44430227 44430227 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 44430227 44430227 G C SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.244 p.E82Q 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 84 22 20.75 93 0 0.00 PKNOX1 5316 genome.wustl.edu 37 21 44430276 44430276 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 44430276 44430276 G A SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.293 p.R98K 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 56 10 14.93 63 0 0.00 PKNOX1 5316 genome.wustl.edu 37 21 44430304 44430304 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 44430304 44430304 C G SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.321 p.F107L 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 7 3 30.00 11 0 0.00 PKNOX1 5316 genome.wustl.edu 37 21 44448897 44448897 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 44448897 44448897 C T SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known nonsense c.1012 p.Q338* 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 26 9 25.71 24 0 0.00 PKNOX2 63876 genome.wustl.edu 37 11 125280125 125280125 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 125280125 125280125 G C SNP PKNOX2 ENST00000298282 human ensembl 70_37 +1 known missense c.622 p.G208R 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX2 HGNC ENSG00000165495 6 7 53.85 19 0 0.00 PKP1 5317 genome.wustl.edu 37 1 201282404 201282404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 201282404 201282404 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known silent c.417 p.G139 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 21 13 38.24 24 0 0.00 PKP1 5317 genome.wustl.edu 37 1 201286771 201286771 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201286771 201286771 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known silent c.918 p.A306 0.002 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 52 8 13.33 64 0 0.00 PKP1 5317 genome.wustl.edu 37 1 201288982 201288982 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 201288982 201288982 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known missense c.1271 p.P424L 0.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 32 10 23.81 66 0 0.00 PKP2 5318 genome.wustl.edu 37 12 32945601 32945601 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 32945601 32945601 C T SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.2554 p.E852K 0.987 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 51 26 33.77 119 0 0.00 PKP2 5318 genome.wustl.edu 37 12 32975436 32975436 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 32975436 32975436 C G SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.1936 p.G646R 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 32 12 27.27 31 0 0.00 PKP2 5318 genome.wustl.edu 37 12 32975436 32975436 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 32975436 32975436 C G SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.1936 p.G646R 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 68 14 17.07 159 0 0.00 PKP2 5318 genome.wustl.edu 37 12 32996150 32996150 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 32996150 32996150 C A SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known silent c.1476 p.T492 0.001 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 13 9 40.91 23 0 0.00 PKP2 5318 genome.wustl.edu 37 12 33030840 33030840 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 12 33030840 33030840 G A SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.974 p.A325V 0.985 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 35 4 10.26 43 0 0.00 PKP3 11187 genome.wustl.edu 37 11 397562 397562 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 397562 397562 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.968 p.S323L 0.766 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 24 18 42.86 47 0 0.00 PKP3 11187 genome.wustl.edu 37 11 399985 399985 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 399985 399985 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.1292 p.S431L 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 10 3 21.43 22 0 0.00 PKP3 11187 genome.wustl.edu 37 11 400063 400063 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 400063 400063 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.1370 p.S457L 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 5 13 72.22 43 0 0.00 PKP3 11187 genome.wustl.edu 37 11 400353 400353 + Missense_Mutation SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 400353 400353 C A SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.1468 p.Q490K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 23 18 43.90 44 0 0.00 PKP4 8502 genome.wustl.edu 37 2 159314798 159314798 + RNA SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 159314798 159314798 C A SNP PKP4 ENST00000462335 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PKP4 HGNC ENSG00000144283 4 4 50.00 11 0 0.00 PKP4 8502 genome.wustl.edu 37 2 159477761 159477761 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 159477761 159477761 G A SNP PKP4 ENST00000389759 human ensembl 70_37 +1 known missense c.431 p.R144K 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 17 12 41.38 27 0 0.00 PLA1A 51365 genome.wustl.edu 37 3 119325689 119325689 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 119325689 119325689 G A SNP PLA1A ENST00000273371 human ensembl 70_37 +1 known missense c.142 p.D48N 0.260 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 41 15 26.79 46 0 0.00 PLA1A 51365 genome.wustl.edu 37 3 119344010 119344010 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 119344010 119344010 G C SNP PLA1A ENST00000273371 human ensembl 70_37 +1 known missense c.1052 p.R351T 0.995 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 101 18 15.13 65 0 0.00 PLA2G12A 81579 genome.wustl.edu 37 4 110650839 110650839 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 110650839 110650839 G A SNP PLA2G12A ENST00000243501 human ensembl 70_37 -1 known missense c.127 p.H43Y 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12A HGNC ENSG00000123739 29 11 27.50 41 0 0.00 PLA2G12B 84647 genome.wustl.edu 37 10 74695398 74695398 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 74695398 74695398 C G SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known missense c.565 p.E189Q 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC ENSG00000138308 44 9 16.98 45 0 0.00 PLA2G12B 84647 genome.wustl.edu 37 10 74695429 74695429 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 74695429 74695429 C T SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known missense c.534 p.M178I 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC ENSG00000138308 24 18 42.86 28 0 0.00 PLA2G12B 84647 genome.wustl.edu 37 10 74714349 74714349 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74714349 74714349 G C SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.056 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC ENSG00000138308 36 24 40.00 61 0 0.00 PLA2G16 11145 genome.wustl.edu 37 11 63342417 63342417 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 63342417 63342417 T G SNP PLA2G16 ENST00000323646 human ensembl 70_37 -1 known nonstop c.489 p.*163Y 0.503 NULL pfam_LRAT-like_dom - no_errors PLA2G16 HGNC ENSG00000176485 32 24 42.86 71 0 0.00 PLA2G2A 5320 genome.wustl.edu 37 1 20305077 20305077 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 20305077 20305077 C G SNP PLA2G2A ENST00000496748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G2A HGNC ENSG00000188257 33 20 37.74 35 0 0.00 PLA2G2A 5320 genome.wustl.edu 37 1 20305466 20305467 + RNA INS - - CA TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 20305466 20305467 - CA INS PLA2G2A ENST00000461140 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.006 - - - no_errors PLA2G2A HGNC ENSG00000188257 20 4 16.67 15 0 0.00 PLA2G2A 5320 genome.wustl.edu 37 1 20305477 20305477 + RNA DEL C C - TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 20305477 20305477 C - DEL PLA2G2A ENST00000461140 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G2A HGNC ENSG00000188257 4 2 33.33 12 0 0.00 PLA2G2C 391013 genome.wustl.edu 37 1 20490647 20490647 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 20490647 20490647 C A SNP PLA2G2C ENST00000247992 human ensembl 70_37 -1 known missense c.290 p.G97V 0.010 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2C HGNC ENSG00000187980 22 11 33.33 19 0 0.00 PLA2G2D 26279 genome.wustl.edu 37 1 20440630 20440630 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 20440630 20440630 G A SNP PLA2G2D ENST00000375105 human ensembl 70_37 -1 known missense c.415 p.R139W 0.000 superfamily_PLipase_A2,smart_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2D HGNC ENSG00000117215 32 11 25.58 51 0 0.00 PLA2G2F 64600 genome.wustl.edu 37 1 20471149 20471149 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 20471149 20471149 C G SNP PLA2G2F ENST00000375102 human ensembl 70_37 +1 known missense c.391 p.H131D 0.009 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2F HGNC ENSG00000158786 20 29 58.00 43 0 0.00 PLA2G4A 5321 genome.wustl.edu 37 1 186876127 186876127 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 186876127 186876127 G A SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.409 p.E137K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 44 12 21.43 25 0 0.00 PLA2G4A 5321 genome.wustl.edu 37 1 186880397 186880397 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186880397 186880397 G A SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.434 p.R145Q 0.976 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 30 16 34.78 87 0 0.00 PLA2G4A 5321 genome.wustl.edu 37 1 186901988 186901988 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 186901988 186901988 C T SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known silent c.652 p.L218 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 31 30 49.18 125 0 0.00 PLA2G4A 5321 genome.wustl.edu 37 1 186915853 186915853 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186915853 186915853 T G SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.1118 p.F373C 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 22 12 35.29 34 0 0.00 PLA2G4E 123745 genome.wustl.edu 37 15 42302330 42302330 + Missense_Mutation SNP G G C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 15 42302330 42302330 G C SNP PLA2G4E ENST00000413860 human ensembl 70_37 -1 known missense c.116 p.A39G 0.000 pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 83 21 20.19 145 1 0.68 PLA2G4F 255189 genome.wustl.edu 37 15 42434798 42434798 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 42434798 42434798 C T SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known missense c.2263 p.E755K 0.004 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 34 7 17.07 50 0 0.00 PLA2G4F 255189 genome.wustl.edu 37 15 42434897 42434897 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 42434897 42434897 C T SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known missense c.2164 p.E722K 0.998 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 34 15 30.61 39 0 0.00 PLA2G4F 255189 genome.wustl.edu 37 15 42442920 42442920 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42442920 42442920 C T SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known silent c.657 p.L219 0.593 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 88 26 22.81 106 0 0.00 PLA2G4F 255189 genome.wustl.edu 37 15 42446305 42446305 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 42446305 42446305 G A SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known silent c.435 p.F145 0.349 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 114 21 15.56 159 0 0.00 PLA2G4F 255189 genome.wustl.edu 37 15 42446400 42446400 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 42446400 42446400 G A SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known missense c.340 p.L114F 0.975 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 42 9 17.65 55 0 0.00 PLA2G6 8398 genome.wustl.edu 37 22 38512084 38512084 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38512084 38512084 G A SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known missense c.1877 p.S626L 0.992 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 46 16 25.81 39 0 0.00 PLA2G6 8398 genome.wustl.edu 37 22 38512097 38512097 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38512097 38512097 G C SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known missense c.1864 p.P622A 0.997 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 46 16 25.81 42 0 0.00 PLA2G6 8398 genome.wustl.edu 37 22 38512122 38512122 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 38512122 38512122 G A SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known silent c.1839 p.F613 0.006 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 36 29 44.62 69 0 0.00 PLA2G6 8398 genome.wustl.edu 37 22 38559436 38559436 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38559436 38559436 G C SNP PLA2G6 ENST00000445591 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PLA2G6 HGNC ENSG00000184381 15 8 34.78 23 0 0.00 PLA2G6 8398 genome.wustl.edu 37 22 38559594 38559594 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38559594 38559594 G A SNP PLA2G6 ENST00000445591 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors PLA2G6 HGNC ENSG00000184381 12 6 33.33 27 0 0.00 PLA2G7 7941 genome.wustl.edu 37 6 46675822 46675822 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46675822 46675822 A C SNP PLA2G7 ENST00000274793 human ensembl 70_37 -1 known missense c.946 p.F316V 1.000 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC ENSG00000146070 17 10 37.04 43 0 0.00 PLA2R1 22925 genome.wustl.edu 37 2 160885430 160885430 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 160885430 160885430 G C SNP PLA2R1 ENST00000283243 human ensembl 70_37 -1 known missense c.886 p.Q296E 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 29 16 35.56 45 0 0.00 PLA2R1 22925 genome.wustl.edu 37 2 160901448 160901448 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 160901448 160901448 G A SNP PLA2R1 ENST00000283243 human ensembl 70_37 -1 known silent c.330 p.L110 0.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 16 7 30.43 31 0 0.00 PLAC1 10761 genome.wustl.edu 37 X 133700283 133700283 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133700283 133700283 C A SNP PLAC1 ENST00000359237 human ensembl 70_37 -1 known nonsense c.430 p.E144* 0.002 NULL NULL - no_errors PLAC1 HGNC ENSG00000170965 103 26 20.16 134 0 0.00 TINCR 257000 genome.wustl.edu 37 19 5561091 5561091 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 5561091 5561091 G C SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLAC2 HGNC ENSG00000223573 48 23 32.39 99 0 0.00 TINCR 257000 genome.wustl.edu 37 19 5561140 5561140 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 5561140 5561140 C G SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PLAC2 HGNC ENSG00000223573 102 25 19.69 114 0 0.00 TINCR 257000 genome.wustl.edu 37 19 5562149 5562149 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5562149 5562149 C G SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors PLAC2 HGNC ENSG00000223573 23 15 39.47 44 0 0.00 PLAC9 219348 genome.wustl.edu 37 10 81904097 81904098 + In_Frame_Ins INS - - AGA TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81904097 81904098 - AGA INS PLAC9 ENST00000372263 human ensembl 70_37 +1 known in_frame_ins c.281_282 p.95in_frame_insE 0.062:0.007 NULL NULL - no_errors PLAC9 HGNC ENSG00000189129 20 3 13.04 57 0 0.00 PLAG1 5324 genome.wustl.edu 37 8 57079819 57079819 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 57079819 57079819 C T SNP PLAG1 ENST00000316981 human ensembl 70_37 -1 known silent c.486 p.T162 0.936 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 63 29 31.52 98 0 0.00 PLAGL1 5325 genome.wustl.edu 37 6 144269240 144269240 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 144269240 144269240 T C SNP PLAGL1 ENST00000354765 human ensembl 70_37 -1 known missense c.34 p.T12A 0.135 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 28 14 33.33 35 0 0.00 PLAT 5327 genome.wustl.edu 37 8 42038032 42038032 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 42038032 42038032 G C SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.1061 p.S354C 0.968 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 17 17 50.00 17 0 0.00 PLAT 5327 genome.wustl.edu 37 8 42045026 42045026 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 42045026 42045026 C A SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.429 p.E143D 0.008 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 35 4 10.26 52 0 0.00 PLAT 5327 genome.wustl.edu 37 8 42045454 42045454 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 42045454 42045454 C T SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.334 p.E112K 0.000 pfam_EG-like_dom,superfamily_Kringle-like,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 20 8 28.57 34 0 0.00 PLAU 5328 genome.wustl.edu 37 10 75672700 75672700 + Missense_Mutation SNP A A T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 75672700 75672700 A T SNP PLAU ENST00000372764 human ensembl 70_37 +1 known missense c.212 p.Y71F 0.598 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 35 33 48.53 80 0 0.00 PLAU 5328 genome.wustl.edu 37 10 75673834 75673834 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 75673834 75673834 C T SNP PLAU ENST00000372764 human ensembl 70_37 +1 known silent c.777 p.L259 0.988 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 53 24 31.17 35 0 0.00 PLB1 151056 genome.wustl.edu 37 2 28812907 28812908 + In_Frame_Ins INS - - TTT TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 28812907 28812908 - TTT INS PLB1 ENST00000422425 human ensembl 70_37 +1 known in_frame_ins c.2019_2020 p.674in_frame_insF 0.053:0.857 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 18 8 30.77 26 0 0.00 PLB1 151056 genome.wustl.edu 37 2 28863863 28863863 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 28863863 28863863 C G SNP PLB1 ENST00000422425 human ensembl 70_37 +1 known missense c.4136 p.S1379C 0.712 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 18 30 62.50 44 0 0.00 PLBD1 79887 genome.wustl.edu 37 12 14659146 14659146 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 14659146 14659146 C T SNP PLBD1 ENST00000240617 human ensembl 70_37 -1 known missense c.1429 p.E477K 0.224 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 33 18 35.29 65 0 0.00 PLBD1 79887 genome.wustl.edu 37 12 14659187 14659187 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 14659187 14659187 G T SNP PLBD1 ENST00000240617 human ensembl 70_37 -1 known missense c.1388 p.P463H 0.997 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 37 21 36.21 68 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8130983 8130983 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 8130983 8130983 C G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.142 p.Q48E 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 31 11 26.19 40 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8628578 8628578 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 8628578 8628578 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.496 p.E166K 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 26 26 50.00 36 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8632317 8632317 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 8632317 8632317 C G SNP PLCB1 ENST00000475958 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PLCB1 HGNC ENSG00000182621 5 10 66.67 16 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8637834 8637834 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 8637834 8637834 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 47 11 18.97 34 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8665620 8665620 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 8665620 8665620 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.904 p.E302K 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 31 12 27.91 43 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8665686 8665686 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 8665686 8665686 C G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.970 p.H324D 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 27 8 22.86 44 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8665705 8665705 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 8665705 8665705 C T SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.989 p.S330L 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 21 19 47.50 56 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8713980 8713980 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 8713980 8713980 T G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.1984 p.F662V 1.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 36 4 10.00 60 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8745835 8745835 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 8745835 8745835 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known silent c.2760 p.V920 0.995 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 26 13 33.33 35 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8755229 8755229 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 8755229 8755229 C A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.2974 p.Q992K 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 35 22 38.60 61 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8755253 8755253 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 8755253 8755253 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.2998 p.E1000K 0.998 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 30 20 40.00 63 0 0.00 PLCB1 23236 genome.wustl.edu 37 20 8769323 8769323 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 8769323 8769323 G T SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known nonsense c.3232 p.E1078* 1.000 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 31 4 11.43 21 0 0.00 PLCB2 5330 genome.wustl.edu 37 15 40582813 40582813 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 40582813 40582813 C A SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known missense c.3174 p.M1058I 1.000 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 388 82 17.45 517 0 0.00 PLCB2 5330 genome.wustl.edu 37 15 40589076 40589076 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 40589076 40589076 C T SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known missense c.1357 p.D453N 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 40 10 20.00 47 0 0.00 PLCB2 5330 genome.wustl.edu 37 15 40591117 40591117 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40591117 40591117 G A SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known silent c.732 p.F244 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 50 37 42.53 69 0 0.00 PLCB2 5330 genome.wustl.edu 37 15 40591367 40591367 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40591367 40591367 G C SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known silent c.645 p.L215 0.993 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 33 23 41.07 55 0 0.00 PLCB2-AS1 100874186 genome.wustl.edu 37 15 40592974 40592975 + RNA INS - - C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 40592974 40592975 - C INS PLCB2-AS1 ENST00000559520 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PLCB2-AS1 HGNC ENSG00000259307 53 27 33.75 27 0 0.00 PLCB3 5331 genome.wustl.edu 37 11 64023987 64023987 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 64023987 64023987 G A SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known missense c.838 p.E280K 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 32 24 42.86 61 0 0.00 PLCB3 5331 genome.wustl.edu 37 11 64026024 64026024 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 64026024 64026024 C T SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1092 p.D364 0.997 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 47 15 24.19 98 0 0.00 PLCB3 5331 genome.wustl.edu 37 11 64026147 64026147 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64026147 64026147 C G SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1215 p.P405 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 38 23 37.70 50 0 0.00 PLCB3 5331 genome.wustl.edu 37 11 64027557 64027557 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64027557 64027557 G C SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known missense c.1582 p.E528Q 0.977 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 28 6 17.65 33 0 0.00 PLCB3 5331 genome.wustl.edu 37 11 64027604 64027604 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 64027604 64027604 G C SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1629 p.L543 0.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 26 10 27.78 34 0 0.00 PLCB4 5332 genome.wustl.edu 37 20 9389808 9389808 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 9389808 9389808 C A SNP PLCB4 ENST00000334005 human ensembl 70_37 +1 known nonsense c.1943 p.S648* 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 64 17 20.99 73 0 0.00 PLCB4 5332 genome.wustl.edu 37 20 9438100 9438100 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 9438100 9438100 C A SNP PLCB4 ENST00000334005 human ensembl 70_37 +1 known silent c.3000 p.I1000 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 8 3 27.27 25 0 0.00 PLCB4 5332 genome.wustl.edu 37 20 9460165 9460165 + RNA SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 20 9460165 9460165 C T SNP PLCB4 ENST00000464199 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLCB4 HGNC ENSG00000101333 21 11 34.38 61 0 0.00 PLCD1 5333 genome.wustl.edu 37 3 38049577 38049577 + Nonsense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 38049577 38049577 C A SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known nonsense c.2176 p.E726* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 33 10 23.26 66 0 0.00 PLCD1 5333 genome.wustl.edu 37 3 38049823 38049823 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38049823 38049823 C T SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known silent c.2001 p.K667 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 25 30 54.55 61 0 0.00 PLCD1 5333 genome.wustl.edu 37 3 38051397 38051397 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 38051397 38051397 C G SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known missense c.1348 p.E450Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 10 6 37.50 9 0 0.00 PLCD1 5333 genome.wustl.edu 37 3 38065673 38065673 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 38065673 38065673 G A SNP PLCD1 ENST00000473834 human ensembl 70_37 -1 putative rna NULL NULL 0.065 - - - no_errors PLCD1 HGNC ENSG00000187091 14 3 17.65 24 0 0.00 PLCD3 113026 genome.wustl.edu 37 17 43192603 43192603 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43192603 43192603 C A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known missense c.1569 p.Q523H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 50 21 29.58 72 0 0.00 PLCD3 113026 genome.wustl.edu 37 17 43196206 43196206 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43196206 43196206 G A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known nonsense c.889 p.Q297* 0.997 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 18 11 37.93 36 0 0.00 PLCD3 113026 genome.wustl.edu 37 17 43196380 43196380 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 43196380 43196380 C T SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 39 8 16.67 51 0 0.00 PLCD3 113026 genome.wustl.edu 37 17 43197701 43197701 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 43197701 43197701 G T SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known silent c.675 p.L225 0.524 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 9 43 82.69 79 0 0.00 PLCD3 113026 genome.wustl.edu 37 17 43198400 43198400 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 43198400 43198400 G A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known silent c.423 p.I141 1.000 smart_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 15 4 21.05 20 0 0.00 PLCD4 84812 genome.wustl.edu 37 2 219494347 219494347 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 219494347 219494347 C G SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known missense c.1080 p.F360L 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 49 24 32.88 74 0 0.00 PLCD4 84812 genome.wustl.edu 37 2 219495403 219495403 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219495403 219495403 G A SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known missense c.1150 p.E384K 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 52 14 21.21 71 0 0.00 PLCD4 84812 genome.wustl.edu 37 2 219499242 219499242 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 219499242 219499242 G A SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known silent c.1785 p.Q595 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 42 24 36.36 41 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 95848926 95848926 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 10 95848926 95848926 C T SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known silent c.75 p.F25 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 94 19 16.67 160 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 95849033 95849033 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 95849033 95849033 C T SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known missense c.182 p.S61L 0.993 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 115 34 22.82 195 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 95849061 95849061 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 95849061 95849061 C G SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known missense c.210 p.F70L 0.131 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 47 6 11.32 28 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 95931118 95931118 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 95931118 95931118 C G SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.1674 p.F558L 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 19 24 55.81 63 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96006107 96006107 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 96006107 96006107 A G SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.2825 p.K942R 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 38 22 36.67 101 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96025689 96025689 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 96025689 96025689 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.4255 p.E1419Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 58 22 27.50 94 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96043642 96043642 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 96043642 96043642 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.4891 p.D1631H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 77 9 10.47 43 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96058365 96058365 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 96058365 96058365 G A SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known silent c.5397 p.P1799 0.997 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 20 6 23.08 59 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96064319 96064319 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 96064319 96064319 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.5539 p.D1847H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 43 22 33.85 66 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96066416 96066416 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96066416 96066416 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.5855 p.R1952T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 9 5 35.71 29 0 0.00 PLCE1 51196 genome.wustl.edu 37 10 96081752 96081752 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 96081752 96081752 C A SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.6437 p.P2146Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 12 3 20.00 29 0 0.00 PLCG1 5335 genome.wustl.edu 37 20 39793956 39793956 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 39793956 39793956 C G SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.1458 p.I486M 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 27 11 28.95 27 0 0.00 PLCG1 5335 genome.wustl.edu 37 20 39794458 39794458 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 39794458 39794458 C G SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known silent c.1791 p.L597 0.488 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 98 20 16.81 140 0 0.00 PLCG1 5335 genome.wustl.edu 37 20 39794982 39794982 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 39794982 39794982 G C SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.1948 p.E650Q 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 32 16 33.33 55 0 0.00 PLCG1 5335 genome.wustl.edu 37 20 39795201 39795201 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 39795201 39795201 C T SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.2086 p.R696W 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 72 17 19.10 99 0 0.00 PLCG2 5336 genome.wustl.edu 37 16 81892744 81892744 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 81892744 81892744 C G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.455 p.S152C 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 105 26 19.40 110 0 0.00 PLCG2 5336 genome.wustl.edu 37 16 81892744 81892744 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 81892744 81892744 C G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.455 p.S152C 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 43 15 25.86 42 0 0.00 PLCG2 5336 genome.wustl.edu 37 16 81927367 81927367 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 16 81927367 81927367 G A SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.1040 p.R347H 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 44 23 33.82 111 1 0.88 PLCG2 5336 genome.wustl.edu 37 16 81973535 81973535 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 81973535 81973535 G C SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.3352 p.E1118Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 43 34 44.16 52 0 0.00 PLCG2 5336 genome.wustl.edu 37 16 81990342 81990342 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 81990342 81990342 A G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.3613 p.R1205G 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 32 4 11.11 52 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155093577 155093578 + Frame_Shift_Ins INS - - TC TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 155093577 155093578 - TC INS PLCH1 ENST00000494598 human ensembl 70_37 -1 known frame_shift_ins c.2940_2939 p.D980fs 0.001:0.001 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 13 3 18.75 21 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155198792 155198792 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155198792 155198792 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.5047 p.D1683N 0.997 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 20 11 35.48 35 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155199221 155199221 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199221 155199221 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4618 p.D1540N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 19 13 40.62 48 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155199584 155199584 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199584 155199584 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4255 p.E1419K 0.002 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 13 14 51.85 32 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155199800 155199800 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199800 155199800 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4039 p.D1347N 0.009 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 23 5 17.86 42 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155200357 155200357 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 155200357 155200357 G C SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3482 p.S1161C 0.007 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 23 5 17.86 28 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155200384 155200384 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155200384 155200384 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3455 p.S1152F 0.992 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 15 6 28.57 23 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155200421 155200421 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 155200421 155200421 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3418 p.G1140S 0.001 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 26 8 23.53 25 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155200812 155200812 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155200812 155200812 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.3027 p.G1009 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 32 20 38.46 51 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155203219 155203219 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 155203219 155203219 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2924 p.R975K 0.007 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 38 5 11.63 27 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155203347 155203347 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 155203347 155203347 G T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2796 p.S932R 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 33 17 34.00 32 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155203488 155203488 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 155203488 155203488 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.2655 p.L885 0.994 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 54 9 14.29 26 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155203943 155203943 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 155203943 155203943 G C SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2636 p.A879G 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 16 4 20.00 18 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155206497 155206497 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 155206497 155206497 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known nonsense c.2455 p.R819* 0.260 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 60 14 18.92 62 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155271939 155271939 + Silent SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 155271939 155271939 A T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.1080 p.G360 0.946 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 92 20 17.86 46 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155311967 155311967 + Missense_Mutation SNP A A G TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 3 155311967 155311967 A G SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.197 p.I66T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 9 4 30.77 17 0 0.00 PLCH1 23007 genome.wustl.edu 37 3 155314020 155314020 + Splice_Site SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 155314020 155314020 C G SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known splice_site c.190+1 e2+1 1.000 - - - no_errors PLCH1 HGNC ENSG00000114805 105 18 14.63 76 0 0.00 PLCH2 9651 genome.wustl.edu 37 1 2435841 2435841 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 2435841 2435841 C A SNP PLCH2 ENST00000378486 human ensembl 70_37 +1 known missense c.3440 p.S1147Y 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 70 57 44.88 140 1 0.71 PLCL1 5334 genome.wustl.edu 37 2 198949616 198949616 + Nonsense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 198949616 198949616 C T SNP PLCL1 ENST00000428675 human ensembl 70_37 +1 known nonsense c.1375 p.R459* 0.998 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 12 4 25.00 24 0 0.00 PLCL1 5334 genome.wustl.edu 37 2 198949706 198949706 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 198949706 198949706 C G SNP PLCL1 ENST00000428675 human ensembl 70_37 +1 known missense c.1465 p.L489V 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 60 22 26.83 72 0 0.00 PLCL1 5334 genome.wustl.edu 37 2 198966046 198966047 + Frame_Shift_Del DEL AC AC - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 198966046 198966047 AC - DEL PLCL1 ENST00000428675 human ensembl 70_37 +1 known frame_shift_del c.2957_2958 p.T987fs 1.000:0.999 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 15 2 11.76 52 0 0.00 PLCL2 23228 genome.wustl.edu 37 3 17051428 17051428 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 17051428 17051428 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.212 p.G71E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 41 52 55.91 153 1 0.65 PLCL2 23228 genome.wustl.edu 37 3 17052159 17052159 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17052159 17052159 C T SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.943 p.H315Y 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 56 13 18.84 79 0 0.00 PLCL2 23228 genome.wustl.edu 37 3 17052190 17052190 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 17052190 17052190 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.974 p.R325Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 55 36 39.56 79 0 0.00 PLCL2 23228 genome.wustl.edu 37 3 17052521 17052521 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 17052521 17052521 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known silent c.1305 p.L435 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 6 3 33.33 21 0 0.00 PLCL2 23228 genome.wustl.edu 37 3 17053435 17053435 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 17053435 17053435 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.2219 p.G740E 0.999 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 23 29 55.77 47 0 0.00 PLCXD1 55344 genome.wustl.edu 37 X 207451 207451 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 207451 207451 C T SNP PLCXD1 ENST00000484611 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLCXD1 HGNC ENSG00000182378 161 28 14.81 191 0 0.00 PLCXD2 257068 genome.wustl.edu 37 3 111427075 111427075 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 111427075 111427075 G C SNP PLCXD2 ENST00000477665 human ensembl 70_37 +1 known missense c.466 p.E156Q 0.996 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC ENSG00000240891 53 14 20.90 56 0 0.00 PLCXD2 257068 genome.wustl.edu 37 3 111439761 111439761 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111439761 111439761 T G SNP PLCXD2 ENST00000472215 human ensembl 70_37 +1 putative rna NULL NULL 0.883 - - - no_errors PLCXD2 HGNC ENSG00000240891 7 8 53.33 17 0 0.00 PLCXD3 345557 genome.wustl.edu 37 5 41382227 41382227 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 41382227 41382227 G A SNP PLCXD3 ENST00000328457 human ensembl 70_37 -1 known silent c.513 p.C171 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 42 17 28.81 54 0 0.00 PLCXD3 345557 genome.wustl.edu 37 5 41510616 41510616 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 41510616 41510616 G A SNP PLCXD3 ENST00000328457 human ensembl 70_37 -1 known nonsense c.13 p.Q5* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 12 6 33.33 38 0 0.00 PLCZ1 89869 genome.wustl.edu 37 12 18836181 18836181 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 18836181 18836181 C T SNP PLCZ1 ENST00000266505 human ensembl 70_37 -1 known missense c.1819 p.V607I 0.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 5 10 66.67 27 0 0.00 PLCZ1 89869 genome.wustl.edu 37 12 18854471 18854471 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18854471 18854471 T G SNP PLCZ1 ENST00000266505 human ensembl 70_37 -1 known missense c.981 p.K327N 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 15 22 59.46 44 0 0.00 PLCZ1 89869 genome.wustl.edu 37 12 18889263 18889263 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 18889263 18889263 C G SNP PLCZ1 ENST00000541109 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.250 - - - no_errors PLCZ1 HGNC ENSG00000139151 22 9 29.03 36 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171377057 171377057 + Missense_Mutation SNP A A T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 171377057 171377057 A T SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known missense c.2375 p.V792D 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 25 8 23.53 18 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171394595 171394595 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 171394595 171394595 C G SNP PLD1 ENST00000342215 human ensembl 70_37 -1 known missense c.1697 p.G566A 0.998 NULL pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 44 8 15.38 83 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171406541 171406541 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 171406541 171406541 G A SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.1464 p.D488 0.998 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 63 7 10.00 42 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171406586 171406586 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 3 171406586 171406586 C T SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.1419 p.S473 0.054 pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 60 60 50.00 60 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171427491 171427491 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 171427491 171427491 A G SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known missense c.920 p.I307T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 39 32 45.07 55 0 0.00 PLD1 5337 genome.wustl.edu 37 3 171453323 171453323 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 171453323 171453323 G C SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.393 p.L131 0.807 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 68 10 12.82 40 0 0.00 PLD2 5338 genome.wustl.edu 37 17 4711670 4711670 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4711670 4711670 C T SNP PLD2 ENST00000263088 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 270 85 23.94 423 1 0.24 PLD5 200150 genome.wustl.edu 37 1 242687403 242687403 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 242687403 242687403 T G SNP PLD5 ENST00000536534 human ensembl 70_37 -1 known missense c.176 p.D59A 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 28 16 36.36 50 0 0.00 PLD5 200150 genome.wustl.edu 37 1 242687437 242687437 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 242687437 242687437 C T SNP PLD5 ENST00000536534 human ensembl 70_37 -1 known missense c.142 p.D48N 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 61 8 11.59 67 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144992696 144992696 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 144992696 144992696 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11704 p.E3902K 0.999 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 96 62 39.24 148 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144992701 144992701 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144992701 144992701 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11699 p.S3900L 0.878 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 100 49 32.89 113 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144992837 144992837 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 144992837 144992837 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11563 p.E3855K 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 66 38 36.54 95 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144993135 144993135 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 144993135 144993135 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11265 p.M3755I 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 54 26 32.50 57 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144993180 144993180 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 144993180 144993180 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.11220 p.Q3740 0.021 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 43 22 33.33 81 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144994196 144994196 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144994196 144994196 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.10204 p.E3402Q 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 30 7 18.92 23 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144994213 144994213 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 144994213 144994213 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.10187 p.S3396C 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 23 10 30.30 41 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144994596 144994596 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144994596 144994596 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.9804 p.L3268 0.982 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 66 15 18.52 51 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144995001 144995001 + Silent SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 144995001 144995001 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.9399 p.L3133 0.554 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 1 5 83.33 15 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144995513 144995513 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 8 144995513 144995513 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.8887 p.V2963M 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 97 83 45.86 101 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144996117 144996117 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144996117 144996117 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.8283 p.K2761N 0.367 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 4 5 55.56 11 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144996497 144996497 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144996497 144996497 C A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known nonsense c.7903 p.E2635* 0.998 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 17 6 26.09 22 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144996564 144996564 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144996564 144996564 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known splice_site c.7837-1 e32-1 1.000 - - - no_errors PLEC HGNC ENSG00000178209 108 28 20.59 136 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144996767 144996767 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144996767 144996767 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7741 p.D2581H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 61 11 15.28 63 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144996801 144996801 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 144996801 144996801 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7707 p.Q2569 0.980 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 40 14 25.93 61 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997172 144997172 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997172 144997172 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7336 p.E2446Q 1.000 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 23 3 11.54 41 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997377 144997377 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144997377 144997377 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7131 p.L2377 0.900 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 29 8 21.62 39 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997454 144997454 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144997454 144997454 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7054 p.E2352Q 0.998 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 22 4 15.38 15 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997455 144997455 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 144997455 144997455 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7053 p.A2351 0.007 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 8 4 33.33 11 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997494 144997494 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997494 144997494 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7014 p.Q2338H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 23 7 23.33 25 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144997691 144997691 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997691 144997691 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6817 p.E2273Q 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 21 7 25.00 32 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144998412 144998412 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 144998412 144998412 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.6096 p.L2032 0.917 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 17 4 19.05 28 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144998429 144998429 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144998429 144998429 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6079 p.D2027N 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 17 3 15.00 18 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144998486 144998486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144998486 144998486 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6022 p.E2008K 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 13 4 23.53 13 0 0.00 PLEC 5339 genome.wustl.edu 37 8 144999689 144999689 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144999689 144999689 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.4819 p.G1607R 0.978 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 14 7 31.82 31 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145002027 145002027 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 145002027 145002027 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.3805 p.L1269V 0.951 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 101 39 27.86 118 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145003949 145003949 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145003949 145003949 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.3199 p.E1067Q 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 16 2 11.11 16 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145004320 145004320 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145004320 145004320 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.3015 p.A1005 0.006 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 14 4 22.22 15 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145004627 145004627 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 8 145004627 145004627 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.2793 p.L931 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 22 4 15.38 37 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145006129 145006129 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145006129 145006129 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.2565 p.L855 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 59 13 18.06 35 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145007171 145007171 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 145007171 145007171 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.1938 p.Q646H 0.839 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 29 18 38.30 73 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145009251 145009251 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145009251 145009251 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.1164 p.I388 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 39 10 20.41 29 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145012332 145012332 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145012332 145012332 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.662 p.S221L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 54 46 46.00 40 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145024409 145024409 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 145024409 145024409 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.466 p.P156S 0.959 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 2 3 60.00 11 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145024566 145024566 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024566 145024566 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.309 p.P103 0.817 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 87 31 26.27 75 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145024586 145024586 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024586 145024586 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.289 p.L97V 0.997 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 101 36 26.28 83 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145024638 145024638 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024638 145024638 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.237 p.I79 0.325 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 89 41 31.54 94 0 0.00 PLEC 5339 genome.wustl.edu 37 8 145024811 145024811 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145024811 145024811 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.64 p.E22K 1.000 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 95 30 24.00 57 0 0.00 PLEK2 26499 genome.wustl.edu 37 14 67854156 67854156 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 67854156 67854156 G A SNP PLEK2 ENST00000216446 human ensembl 70_37 -1 known nonsense c.952 p.Q318* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 39 14 26.42 101 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124172455 124172455 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 124172455 124172455 C G SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known nonsense c.362 p.S121* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 35 18 32.73 37 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124172482 124172482 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 124172482 124172482 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known missense c.389 p.R130H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 68 11 13.92 26 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124177418 124177418 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124177418 124177418 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known missense c.615 p.M205I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 21 15 41.67 97 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124177430 124177430 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124177430 124177430 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known silent c.627 p.K209 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 31 8 20.51 96 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124184411 124184411 + Splice_Site SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 124184411 124184411 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known splice_site c.747-1 e9-1 1.000 - - - no_errors PLEKHA1 HGNC ENSG00000107679 52 7 11.86 81 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124187844 124187844 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 124187844 124187844 G A SNP PLEKHA1 ENST00000538022 human ensembl 70_37 +1 known missense c.953 p.R318K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 38 20 34.48 40 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124189979 124189979 + RNA SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 124189979 124189979 A G SNP PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors PLEKHA1 HGNC ENSG00000107679 26 9 25.71 45 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124190642 124190643 + RNA INS - - T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 10 124190642 124190643 - T INS PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.007 - - - no_errors PLEKHA1 HGNC ENSG00000107679 8 6 42.86 8 0 0.00 PLEKHA1 59338 genome.wustl.edu 37 10 124191267 124191267 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124191267 124191267 C G SNP PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors PLEKHA1 HGNC ENSG00000107679 13 9 40.91 11 0 0.00 PLEKHA2 59339 genome.wustl.edu 37 8 38830302 38830302 + RNA SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 38830302 38830302 A T SNP PLEKHA2 ENST00000388745 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PLEKHA2 HGNC ENSG00000169499 50 9 15.25 33 0 0.00 PLEKHA3 65977 genome.wustl.edu 37 2 179346649 179346649 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179346649 179346649 C T SNP PLEKHA3 ENST00000461474 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors PLEKHA3 HGNC ENSG00000116095 23 4 14.81 33 0 0.00 PLEKHA4 57664 genome.wustl.edu 37 19 49341352 49341352 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 49341352 49341352 C T SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.1999 p.E667K 0.405 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 32 28 46.67 85 0 0.00 PLEKHA4 57664 genome.wustl.edu 37 19 49351177 49351177 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 49351177 49351177 C T SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.1546 p.E516K 0.981 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 55 24 30.00 104 0 0.00 PLEKHA4 57664 genome.wustl.edu 37 19 49362362 49362362 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49362362 49362362 G C SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.727 p.L243V 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 5 5 50.00 8 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19282988 19282988 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 19282988 19282988 G A SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known silent c.93 p.E31 1.000 superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 38 15 28.30 53 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19459337 19459337 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 19459337 19459337 G A SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1850 p.G617D 0.006 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 68 39 36.45 93 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19459387 19459387 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 19459387 19459387 G A SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1900 p.D634N 0.051 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 126 28 18.18 145 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19459396 19459396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 19459396 19459396 C G SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1909 p.L637V 0.092 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 14 44 75.86 125 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19475477 19475477 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 19475477 19475477 C T SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.2015 p.S672L 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 35 15 30.00 33 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19506935 19506935 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 19506935 19506935 C T SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.2828 p.T943M 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 17 6 26.09 39 0 0.00 PLEKHA5 54477 genome.wustl.edu 37 12 19522680 19522680 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 19522680 19522680 C G SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.3499 p.Q1167E 0.984 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 56 10 15.15 43 0 0.00 PLEKHA6 22874 genome.wustl.edu 37 1 204197977 204197977 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 204197977 204197977 C G SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known missense c.2764 p.D922H 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 86 52 37.68 122 0 0.00 PLEKHA6 22874 genome.wustl.edu 37 1 204214041 204214041 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204214041 204214041 G T SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known nonsense c.2123 p.S708* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 20 16 44.44 61 0 0.00 PLEKHA6 22874 genome.wustl.edu 37 1 204214745 204214745 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 204214745 204214745 C T SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known missense c.2030 p.R677K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 22 3 12.00 33 0 0.00 PLEKHA7 144100 genome.wustl.edu 37 11 16807925 16807925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 16807925 16807925 C T SNP PLEKHA7 ENST00000531066 human ensembl 70_37 -1 putative missense c.3367 p.E1123K 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA7 HGNC ENSG00000166689 24 11 31.43 15 0 0.00 PLEKHA7 144100 genome.wustl.edu 37 11 16877407 16877407 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 16877407 16877407 G A SNP PLEKHA7 ENST00000448080 human ensembl 70_37 -1 known silent c.360 p.V120 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA7 HGNC ENSG00000166689 186 40 17.70 213 0 0.00 PLEKHA8 84725 genome.wustl.edu 37 7 30092483 30092483 + Splice_Site SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 30092483 30092483 G C SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known splice_site c.796+1 e7+1 1.000 - - - no_errors PLEKHA8 HGNC ENSG00000106086 10 9 47.37 32 0 0.00 PLEKHA8 84725 genome.wustl.edu 37 7 30101579 30101579 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 30101579 30101579 G A SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.997 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 22 5 18.52 56 0 0.00 PLEKHA8 84725 genome.wustl.edu 37 7 30118402 30118402 + Nonstop_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 30118402 30118402 G C SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known nonstop c.1559 p.*520S 1.000 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 47 35 42.68 61 0 0.00 PLEKHA8P1 51054 genome.wustl.edu 37 12 45568077 45568077 + RNA SNP A A T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 45568077 45568077 A T SNP PLEKHA8P1 ENST00000256692 human ensembl 70_37 -1 known rna NULL NULL 0.778 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 304 103 25.25 451 0 0.00 PLEKHA8P1 51054 genome.wustl.edu 37 12 45568252 45568252 + RNA SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 45568252 45568252 T A SNP PLEKHA8P1 ENST00000256692 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 73 10 12.05 55 0 0.00 PLEKHB2 55041 genome.wustl.edu 37 2 131890507 131890507 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 131890507 131890507 G A SNP PLEKHB2 ENST00000303908 human ensembl 70_37 +1 known silent c.366 p.E122 0.944 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 34 13 27.66 41 0 0.00 PLEKHD1 400224 genome.wustl.edu 37 14 69967306 69967306 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 69967306 69967306 C G SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.256 p.L86V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 30 6 16.67 34 0 0.00 PLEKHD1 400224 genome.wustl.edu 37 14 69968456 69968456 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69968456 69968456 G T SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.416 p.W139L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 36 9 20.00 36 0 0.00 PLEKHD1 400224 genome.wustl.edu 37 14 69992774 69992774 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 69992774 69992774 C A SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.858 p.S286R 0.922 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 20 11 35.48 37 0 0.00 PLEKHD1 400224 genome.wustl.edu 37 14 69995102 69995102 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 69995102 69995102 G A SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.1487 p.G496E 0.347 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 29 13 30.95 51 0 0.00 PLEKHD1 400224 genome.wustl.edu 37 14 69995111 69995111 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 69995111 69995111 C T SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.1496 p.S499L 0.006 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 36 28 43.75 40 0 0.00 PLEKHG1 57480 genome.wustl.edu 37 6 151055052 151055052 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 151055052 151055052 G A SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.235 p.A79T 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 32 23 41.82 24 0 0.00 PLEKHG1 57480 genome.wustl.edu 37 6 151055208 151055208 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 151055208 151055208 G T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.391 p.D131Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 13 5 27.78 25 0 0.00 PLEKHG1 57480 genome.wustl.edu 37 6 151089860 151089860 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 151089860 151089860 C T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known silent c.498 p.I166 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 29 14 32.56 35 0 0.00 PLEKHG1 57480 genome.wustl.edu 37 6 151121928 151121928 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 151121928 151121928 C G SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.703 p.L235V 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 55 20 26.32 63 0 0.00 PLEKHG1 57480 genome.wustl.edu 37 6 151152826 151152826 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 151152826 151152826 C T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.2579 p.A860V 0.985 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 22 4 15.38 37 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65194406 65194406 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 65194406 65194406 G C SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known silent c.57 p.L19 0.338 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 48 37 43.53 73 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65208125 65208125 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 65208125 65208125 G A SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known silent c.1890 p.G630 0.077 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 42 5 10.64 42 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65208577 65208577 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 65208577 65208577 C T SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2342 p.P781L 0.918 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 33 11 25.00 53 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65208765 65208765 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 65208765 65208765 G A SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2530 p.E844K 0.988 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 40 19 31.67 83 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65209118 65209118 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 65209118 65209118 G C SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2883 p.K961N 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 39 12 23.53 71 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65210858 65210858 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65210858 65210858 G C SNP PLEKHG3 ENST00000492928 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PLEKHG3 HGNC ENSG00000126822 11 17 60.71 20 0 0.00 PLEKHG3 26030 genome.wustl.edu 37 14 65210909 65210909 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 65210909 65210909 G C SNP PLEKHG3 ENST00000492928 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PLEKHG3 HGNC ENSG00000126822 29 27 48.21 39 0 0.00 PLEKHG4 25894 genome.wustl.edu 37 16 67313990 67313990 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 67313990 67313990 C G SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.43 p.Q15E 0.041 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 33 8 19.51 20 0 0.00 PLEKHG4 25894 genome.wustl.edu 37 16 67314851 67314851 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67314851 67314851 C G SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.662 p.S221C 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 42 16 27.59 57 0 0.00 PLEKHG4 25894 genome.wustl.edu 37 16 67315956 67315956 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 67315956 67315956 G A SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known silent c.1050 p.L350 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 9 26 74.29 40 0 0.00 PLEKHG4 25894 genome.wustl.edu 37 16 67318975 67318975 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 67318975 67318975 G C SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.2052 p.Q684H 0.185 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 34 14 29.17 71 0 0.00 PLEKHG4 25894 genome.wustl.edu 37 16 67322304 67322304 + Splice_Site SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 67322304 67322304 G T SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known splice_site c.3454+1 e19+1 1.000 - - - no_errors PLEKHG4 HGNC ENSG00000196155 35 15 30.00 48 0 0.00 PLEKHG4B 153478 genome.wustl.edu 37 5 143604 143604 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 143604 143604 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known silent c.729 p.F243 0.985 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 70 22 23.91 127 0 0.00 PLEKHG4B 153478 genome.wustl.edu 37 5 143605 143605 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 143605 143605 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.730 p.H244Y 0.871 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 69 21 23.33 125 0 0.00 PLEKHG4B 153478 genome.wustl.edu 37 5 155490 155490 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 155490 155490 G C SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.1072 p.E358Q 0.082 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 29 20 40.82 46 0 0.00 PLEKHG4B 153478 genome.wustl.edu 37 5 171548 171548 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 171548 171548 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.2971 p.R991C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 22 6 21.43 31 0 0.00 PLEKHG4B 153478 genome.wustl.edu 37 5 182327 182327 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 182327 182327 C G SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.3705 p.I1235M 0.004 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 44 15 25.42 39 0 0.00 PLEKHG5 57449 genome.wustl.edu 37 1 6531079 6531079 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 6531079 6531079 C T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.1600 p.D534N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 46 15 24.59 53 0 0.00 PLEKHG5 57449 genome.wustl.edu 37 1 6534167 6534167 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 6534167 6534167 G T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.734 p.S245Y 0.993 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 14 4 22.22 31 0 0.00 PLEKHG5 57449 genome.wustl.edu 37 1 6537661 6537661 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 6537661 6537661 C T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.208 p.E70K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 67 19 21.84 107 0 0.00 PLEKHG5 57449 genome.wustl.edu 37 1 6556607 6556607 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 6556607 6556607 C G SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.96 p.K32N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 47 23 32.86 88 0 0.00 PLEKHG6 55200 genome.wustl.edu 37 12 6422899 6422899 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 6422899 6422899 G C SNP PLEKHG6 ENST00000011684 human ensembl 70_37 +1 known missense c.243 p.K81N 0.905 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 75 88 53.99 144 0 0.00 PLEKHG6 55200 genome.wustl.edu 37 12 6425464 6425464 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 6425464 6425464 G A SNP PLEKHG6 ENST00000011684 human ensembl 70_37 +1 known missense c.650 p.R217Q 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 86 23 21.10 110 0 0.00 PLEKHG7 440107 genome.wustl.edu 37 12 93162806 93162806 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 93162806 93162806 C T SNP PLEKHG7 ENST00000344636 human ensembl 70_37 +1 known nonsense c.982 p.R328* 0.928 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 14 9 39.13 50 0 0.00 PLEKHH1 57475 genome.wustl.edu 37 14 68029086 68029086 + Silent SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 68029086 68029086 T G SNP PLEKHH1 ENST00000329153 human ensembl 70_37 +1 known silent c.738 p.S246 0.001 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 60 18 23.08 60 0 0.00 PLEKHH1 57475 genome.wustl.edu 37 14 68042668 68042668 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 68042668 68042668 C G SNP PLEKHH1 ENST00000329153 human ensembl 70_37 +1 known missense c.2298 p.I766M 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 19 19 50.00 30 0 0.00 PLEKHH2 130271 genome.wustl.edu 37 2 43919764 43919764 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 43919764 43919764 G A SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known missense c.298 p.D100N 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 45 6 11.76 26 0 0.00 PLEKHH2 130271 genome.wustl.edu 37 2 43924496 43924496 + Splice_Site SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 43924496 43924496 G T SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known splice_site c.688+1 e6+1 1.000 - - - no_errors PLEKHH2 HGNC ENSG00000152527 32 4 11.11 37 0 0.00 PLEKHH2 130271 genome.wustl.edu 37 2 43958683 43958683 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 43958683 43958683 C A SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known missense c.2885 p.S962Y 0.950 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 15 12 44.44 34 0 0.00 PLEKHH2 130271 genome.wustl.edu 37 2 43965569 43965569 + Silent SNP G G C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 2 43965569 43965569 G C SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known silent c.3033 p.L1011 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 18 4 18.18 33 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40820118 40820118 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40820118 40820118 G C SNP PLEKHH3 ENST00000456950 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors PLEKHH3 HGNC ENSG00000068137 61 22 26.51 58 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40820270 40820270 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 40820270 40820270 C T SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.2257 p.E753K 0.992 pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 59 14 19.18 79 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40823016 40823016 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 40823016 40823016 C G SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.1417 p.E473Q 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 51 16 23.88 69 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40823481 40823481 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 40823481 40823481 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.980 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 42 25 37.31 80 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40825805 40825805 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40825805 40825805 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.346 p.P116S 0.982 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 8 4 33.33 10 0 0.00 PLEKHH3 79990 genome.wustl.edu 37 17 40828531 40828531 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40828531 40828531 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known silent c.51 p.F17 1.000 NULL pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 26 24 48.00 73 0 0.00 PLEKHM1 9842 genome.wustl.edu 37 17 43513298 43513298 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43513298 43513298 C A SNP PLEKHM1 ENST00000580404 human ensembl 70_37 -1 known rna NULL NULL 0.802 - - - no_errors PLEKHM1 HGNC ENSG00000225190 18 13 41.94 46 0 0.00 PLEKHM1 9842 genome.wustl.edu 37 17 43516962 43516962 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43516962 43516962 C G SNP PLEKHM1 ENST00000430334 human ensembl 70_37 -1 known silent c.2940 p.L980 0.986 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 64 29 31.18 76 0 0.00 PLEKHM1 9842 genome.wustl.edu 37 17 43552613 43552613 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43552613 43552613 G A SNP PLEKHM1 ENST00000430334 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 62 34 35.42 68 0 0.00 PLEKHM1P 440456 genome.wustl.edu 37 17 62776322 62776322 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 62776322 62776322 G A SNP PLEKHM1P ENST00000578036 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 71 21 22.83 73 0 0.00 PLEKHM1P 440456 genome.wustl.edu 37 17 62788592 62788592 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62788592 62788592 C T SNP PLEKHM1P ENST00000578036 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 169 47 21.76 228 0 0.00 PLEKHM1P 440456 genome.wustl.edu 37 17 62811023 62811023 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 62811023 62811023 G A SNP PLEKHM1P ENST00000580919 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 30 6 16.67 32 0 0.00 PLEKHM2 23207 genome.wustl.edu 37 1 16044409 16044409 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 16044409 16044409 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.299 p.A100V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 11 10 45.45 14 0 0.00 PLEKHM2 23207 genome.wustl.edu 37 1 16044409 16044409 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 16044409 16044409 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.299 p.A100V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 51 34 40.00 36 0 0.00 PLEKHM2 23207 genome.wustl.edu 37 1 16054080 16054080 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16054080 16054080 G A SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.1513 p.E505K 0.998 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 17 13 43.33 45 0 0.00 PLEKHM2 23207 genome.wustl.edu 37 1 16060403 16060403 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16060403 16060403 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known nonsense c.3034 p.R1012* 0.997 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 38 33 46.48 79 0 0.00 PLEKHM3 389072 genome.wustl.edu 37 2 208693146 208693146 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 208693146 208693146 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.2183 p.R728Q 0.990 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 14 23 62.16 28 0 0.00 PLEKHM3 389072 genome.wustl.edu 37 2 208865987 208865987 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 208865987 208865987 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.377 p.R126Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 110 50 30.67 176 1 0.56 PLEKHM3 389072 genome.wustl.edu 37 2 208865987 208865987 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 208865987 208865987 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.377 p.R126Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 21 5 19.23 37 0 0.00 PLEKHO1 51177 genome.wustl.edu 37 1 150128266 150128266 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150128266 150128266 G C SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known missense c.184 p.D62H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 60 11 15.49 25 0 0.00 PLEKHO1 51177 genome.wustl.edu 37 1 150129152 150129152 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 150129152 150129152 G A SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known silent c.366 p.S122 0.140 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 24 7 22.58 52 0 0.00 PLEKHO1 51177 genome.wustl.edu 37 1 150131110 150131110 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 150131110 150131110 C T SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known missense c.622 p.R208W 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 81 12 12.90 73 0 0.00 PLEKHO2 80301 genome.wustl.edu 37 15 65157149 65157149 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 65157149 65157149 G A SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.535 p.D179N 0.986 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 169 47 21.76 263 0 0.00 PLEKHO2 80301 genome.wustl.edu 37 15 65157665 65157665 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 65157665 65157665 G C SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 15 11 42.31 42 0 0.00 PLEKHO2 80301 genome.wustl.edu 37 15 65157665 65157665 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 65157665 65157665 G C SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 13 16 55.17 23 0 0.00 PLEKHO2 80301 genome.wustl.edu 37 15 65157935 65157935 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 15 65157935 65157935 G A SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.1321 p.E441K 0.128 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 53 38 41.76 66 0 0.00 PLG 5340 genome.wustl.edu 37 6 161134305 161134306 + RNA INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 161134305 161134306 - T INS PLG ENST00000462918 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors PLG HGNC ENSG00000122194 17 12 41.38 8 0 0.00 PLG 5340 genome.wustl.edu 37 6 161143598 161143598 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 161143598 161143598 G A SNP PLG ENST00000308192 human ensembl 70_37 +1 known missense c.1255 p.A419T 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Pept_S1A_plasmin,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLG HGNC ENSG00000122194 121 46 27.38 84 0 0.00 PLG 5340 genome.wustl.edu 37 6 161174003 161174003 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161174003 161174003 T C SNP PLG ENST00000308192 human ensembl 70_37 +1 known silent c.2343 p.G781 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLG HGNC ENSG00000122194 33 21 38.89 89 0 0.00 PLGLB1 5343 genome.wustl.edu 37 2 87240096 87240096 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 87240096 87240096 G C SNP PLGLB1 ENST00000478636 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors PLGLB1 HGNC ENSG00000183281 28 215 88.11 68 0 0.00 PLGLB1 5343 genome.wustl.edu 37 2 87248858 87248858 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 87248858 87248858 C A SNP PLGLB1 ENST00000355705 human ensembl 70_37 -1 known missense c.49 p.G17C 0.975 pfscan_Pan_app pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors PLGLB1 HGNC ENSG00000183281 14 14 50.00 25 0 0.00 PLGLB2 5342 genome.wustl.edu 37 2 88047697 88047697 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 88047697 88047697 C T SNP PLGLB2 ENST00000359481 human ensembl 70_37 +1 known silent c.25 p.L9 0.982 NULL pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors PLGLB2 HGNC ENSG00000125551 45 7 13.46 45 0 0.00 PLIN2 123 genome.wustl.edu 37 9 19108575 19108575 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 19108575 19108575 C T SNP PLIN2 ENST00000464326 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLIN2 HGNC ENSG00000147872 21 8 27.59 27 0 0.00 PLIN2 123 genome.wustl.edu 37 9 19126026 19126026 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 19126026 19126026 G C SNP PLIN2 ENST00000472715 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLIN2 HGNC ENSG00000147872 11 6 35.29 9 0 0.00 PLIN2 123 genome.wustl.edu 37 9 19126395 19126395 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 19126395 19126395 C T SNP PLIN2 ENST00000276914 human ensembl 70_37 -1 known silent c.30 p.P10 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 27 8 22.86 31 0 0.00 PLIN3 10226 genome.wustl.edu 37 19 4844784 4844784 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 4844784 4844784 C T SNP PLIN3 ENST00000221957 human ensembl 70_37 -1 known missense c.856 p.V286I 0.004 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 59 53 47.32 95 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4504605 4504605 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 4504605 4504605 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.3940 p.E1314K 0.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 8 3 27.27 8 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4508870 4508870 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4508870 4508870 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.3570 p.Q1190 1.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 107 19 15.08 145 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4510708 4510708 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 4510708 4510708 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.3222 p.P1074 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 40 17 29.31 41 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4511413 4511413 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 4511413 4511413 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2517 p.T839 0.005 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 80 48 37.50 116 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4511479 4511479 + Silent SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 4511479 4511479 A T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2451 p.T817 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 34 7 16.67 27 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4511860 4511860 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 4511860 4511860 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2070 p.L690 0.155 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 411 76 15.57 502 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4512512 4512512 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 4512512 4512512 C A SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.1418 p.G473V 0.008 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 83 21 20.19 83 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4513036 4513036 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 4513036 4513036 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.894 p.M298I 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 45 9 16.67 44 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4513178 4513178 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 4513178 4513178 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.752 p.T251R 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 33 20 37.74 84 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4513500 4513500 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4513500 4513500 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.430 p.L144V 0.040 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 43 29 40.28 58 0 0.00 PLIN4 729359 genome.wustl.edu 37 19 4516671 4516671 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4516671 4516671 C G SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.171 p.Q57H 0.012 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 34 16 32.00 55 0 0.00 PLIN5 440503 genome.wustl.edu 37 19 4525653 4525653 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 4525653 4525653 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.712 p.L238 0.901 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 32 13 28.89 73 0 0.00 PLIN5 440503 genome.wustl.edu 37 19 4525777 4525777 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 4525777 4525777 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.588 p.G196 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 35 12 25.53 94 0 0.00 PLIN5 440503 genome.wustl.edu 37 19 4525824 4525824 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 4525824 4525824 C T SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known missense c.541 p.E181K 0.924 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 56 9 13.85 95 0 0.00 PLIN5 440503 genome.wustl.edu 37 19 4529814 4529814 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4529814 4529814 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.321 p.L107 0.855 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 58 45 43.69 61 0 0.00 PLK1 5347 genome.wustl.edu 37 16 23695351 23695351 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 23695351 23695351 C T SNP PLK1 ENST00000300093 human ensembl 70_37 +1 known missense c.977 p.S326L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK1 HGNC ENSG00000166851 49 6 10.91 56 0 0.00 PLK1S1 55857 genome.wustl.edu 37 20 21142657 21142657 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 21142657 21142657 A C SNP PLK1S1 ENST00000246027 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLK1S1 HGNC ENSG00000088970 21 8 27.59 38 0 0.00 PLK3 1263 genome.wustl.edu 37 1 45267370 45267370 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45267370 45267370 C T SNP PLK3 ENST00000372201 human ensembl 70_37 +1 known missense c.512 p.S171F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK3 HGNC ENSG00000173846 43 21 32.81 59 0 0.00 PLK3 1263 genome.wustl.edu 37 1 45270290 45270290 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 45270290 45270290 G A SNP PLK3 ENST00000465443 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors PLK3 HGNC ENSG00000173846 39 13 25.00 27 0 0.00 PLK3 1263 genome.wustl.edu 37 1 45270294 45270294 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 45270294 45270294 C G SNP PLK3 ENST00000465443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLK3 HGNC ENSG00000173846 45 14 23.33 41 0 0.00 PLK3 1263 genome.wustl.edu 37 1 45270790 45270791 + RNA INS - - AAAG TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 45270790 45270791 - AAAG INS PLK3 ENST00000461769 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.008 - - - no_errors PLK3 HGNC ENSG00000173846 4 2 33.33 14 0 0.00 PLK4 10733 genome.wustl.edu 37 4 128806882 128806882 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 128806882 128806882 G C SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known missense c.357 p.Q119H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 20 19 48.72 26 0 0.00 PLK4 10733 genome.wustl.edu 37 4 128811391 128811391 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 128811391 128811391 G C SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known silent c.1830 p.V610 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 68 22 24.44 92 0 0.00 PLK4 10733 genome.wustl.edu 37 4 128813661 128813661 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 128813661 128813661 T G SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known missense c.2180 p.F727C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 33 14 29.79 85 0 0.00 PLK4 10733 genome.wustl.edu 37 4 128814468 128814468 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 128814468 128814468 C T SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known silent c.2217 p.F739 0.579 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 5 3 37.50 9 0 0.00 PLK4 10733 genome.wustl.edu 37 4 128814472 128814472 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 128814472 128814472 C T SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known nonsense c.2221 p.Q741* 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 5 3 37.50 11 0 0.00 PLK5 126520 genome.wustl.edu 37 19 1529760 1529760 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 1529760 1529760 C T SNP PLK5 ENST00000334770 human ensembl 70_37 +1 known missense c.505 p.R169W 0.005 NULL superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK5 HGNC ENSG00000185988 103 52 33.55 120 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12004636 12004636 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12004636 12004636 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known missense c.134 p.R45K 0.001 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 31 5 13.89 32 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12009848 12009848 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 12009848 12009848 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known missense c.328 p.D110N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 16 7 29.17 21 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12009904 12009904 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 12009904 12009904 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known silent c.384 p.L128 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 166 62 27.07 279 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12032267 12032268 + RNA DEL CT CT - TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 12032267 12032268 CT - DEL PLOD1 ENST00000481933 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.004 - - - no_errors PLOD1 HGNC ENSG00000083444 2 4 66.67 10 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12032700 12032700 + RNA SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 1 12032700 12032700 C T SNP PLOD1 ENST00000481933 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLOD1 HGNC ENSG00000083444 27 7 20.59 24 0 0.00 PLOD1 5351 genome.wustl.edu 37 1 12032750 12032750 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 12032750 12032750 G A SNP PLOD1 ENST00000481933 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PLOD1 HGNC ENSG00000083444 35 22 38.60 42 0 0.00 PLOD3 8985 genome.wustl.edu 37 7 100853820 100853820 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 100853820 100853820 C T SNP PLOD3 ENST00000223127 human ensembl 70_37 -1 known missense c.1493 p.R498Q 0.659 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 54 9 14.29 57 0 0.00 PLP1 5354 genome.wustl.edu 37 X 103031869 103031869 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 103031869 103031869 C T SNP PLP1 ENST00000464776 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLP1 HGNC ENSG00000123560 30 15 33.33 38 0 0.00 PLP1 5354 genome.wustl.edu 37 X 103041064 103041064 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 103041064 103041064 C T SNP PLP1 ENST00000461231 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLP1 HGNC ENSG00000123560 95 22 18.80 111 0 0.00 PLP1 5354 genome.wustl.edu 37 X 103041101 103041101 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 103041101 103041101 G A SNP PLP1 ENST00000476160 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors PLP1 HGNC ENSG00000123560 93 20 17.70 121 0 0.00 PLP1 5354 genome.wustl.edu 37 X 103041593 103041593 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 103041593 103041593 C G SNP PLP1 ENST00000303958 human ensembl 70_37 +1 known missense c.391 p.Q131E 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 53 24 30.77 55 0 0.00 PLP1 5354 genome.wustl.edu 37 X 103042605 103042605 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 103042605 103042605 G A SNP PLP1 ENST00000466486 human ensembl 70_37 +1 known rna NULL NULL 0.840 - - - no_errors PLP1 HGNC ENSG00000123560 37 7 15.91 42 0 0.00 PLP2 5355 genome.wustl.edu 37 X 49030742 49030742 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 49030742 49030742 C T SNP PLP2 ENST00000376327 human ensembl 70_37 +1 known missense c.406 p.R136W 0.024 NULL pfam_MARVEL-like_dom - no_errors PLP2 HGNC ENSG00000102007 52 24 31.58 44 0 0.00 PLRG1 5356 genome.wustl.edu 37 4 155461841 155461841 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 155461841 155461841 G A SNP PLRG1 ENST00000393905 human ensembl 70_37 -1 known missense c.844 p.R282W 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 22 11 33.33 60 0 0.00 PLRG1 5356 genome.wustl.edu 37 4 155470015 155470015 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 155470015 155470015 C T SNP PLRG1 ENST00000393905 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 33 5 13.16 46 0 0.00 PLS1 5357 genome.wustl.edu 37 3 142388394 142388394 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142388394 142388394 C T SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.233 p.S78L 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 163 48 22.75 215 0 0.00 PLS1 5357 genome.wustl.edu 37 3 142396905 142396905 + Missense_Mutation SNP A A C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 3 142396905 142396905 A C SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.529 p.I177L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 23 6 20.69 17 0 0.00 PLS1 5357 genome.wustl.edu 37 3 142423314 142423314 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 142423314 142423314 G C SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.1515 p.L505F 1.000 superfamily_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 27 19 39.58 41 0 0.00 PLS1 5357 genome.wustl.edu 37 3 142430847 142430847 + Nonstop_Mutation SNP T T G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 142430847 142430847 T G SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known nonstop c.1888 p.*630E 1.000 NULL pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 78 32 29.09 72 0 0.00 PLS3 5358 genome.wustl.edu 37 X 114868346 114868346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 114868346 114868346 G C SNP PLS3 ENST00000355899 human ensembl 70_37 +1 known missense c.535 p.D179H 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 86 44 33.85 98 0 0.00 PLS3 5358 genome.wustl.edu 37 X 114880847 114880847 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 114880847 114880847 G A SNP PLS3 ENST00000355899 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 44 11 20.00 69 0 0.00 PLSCR3 57048 genome.wustl.edu 37 17 7296132 7296132 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 7296132 7296132 C T SNP PLSCR3 ENST00000324822 human ensembl 70_37 -1 known missense c.647 p.C216Y 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR3 HGNC ENSG00000187838 40 24 37.50 46 0 0.00 PLSCR4 57088 genome.wustl.edu 37 3 145913067 145913067 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 145913067 145913067 G C SNP PLSCR4 ENST00000354952 human ensembl 70_37 -1 known silent c.789 p.V263 0.020 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 42 33 44.00 42 0 0.00 PLSCR4 57088 genome.wustl.edu 37 3 145913067 145913067 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 145913067 145913067 G C SNP PLSCR4 ENST00000354952 human ensembl 70_37 -1 known silent c.789 p.V263 0.020 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 56 28 33.33 68 0 0.00 PLSCR5 389158 genome.wustl.edu 37 3 146318092 146318092 + Missense_Mutation SNP G G C TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 3 146318092 146318092 G C SNP PLSCR5 ENST00000443512 human ensembl 70_37 -1 known missense c.172 p.L58V 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 69 22 24.18 53 0 0.00 PLTP 5360 genome.wustl.edu 37 20 44536510 44536510 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44536510 44536510 G A SNP PLTP ENST00000542937 human ensembl 70_37 -1 known silent c.579 p.T193 0.999 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 58 14 19.44 48 0 0.00 PLTP 5360 genome.wustl.edu 37 20 44540071 44540071 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 20 44540071 44540071 G A SNP PLTP ENST00000542937 human ensembl 70_37 -1 known silent c.81 p.L27 0.266 NULL pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 58 27 31.76 45 0 0.00 PLVAP 83483 genome.wustl.edu 37 19 17471630 17471630 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17471630 17471630 C T SNP PLVAP ENST00000252590 human ensembl 70_37 -1 known missense c.1191 p.M397I 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 37 17 31.48 55 0 0.00 PLVAP 83483 genome.wustl.edu 37 19 17476175 17476175 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 17476175 17476175 C G SNP PLVAP ENST00000252590 human ensembl 70_37 -1 known missense c.1099 p.E367Q 0.970 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 149 47 23.98 197 0 0.00 PLXDC1 57125 genome.wustl.edu 37 17 37296064 37296064 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37296064 37296064 G A SNP PLXDC1 ENST00000315392 human ensembl 70_37 -1 known missense c.98 p.S33F 0.338 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 56 19 25.33 54 0 0.00 PLXDC2 84898 genome.wustl.edu 37 10 20466004 20466004 + Silent SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 20466004 20466004 G T SNP PLXDC2 ENST00000377252 human ensembl 70_37 +1 known silent c.960 p.V320 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like - no_errors PLXDC2 HGNC ENSG00000120594 105 14 11.67 198 0 0.00 PLXDC2 84898 genome.wustl.edu 37 10 20506461 20506461 + Missense_Mutation SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 10 20506461 20506461 G T SNP PLXDC2 ENST00000377252 human ensembl 70_37 +1 known missense c.1229 p.R410I 0.976 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like - no_errors PLXDC2 HGNC ENSG00000120594 12 3 20.00 50 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126707774 126707774 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 126707774 126707774 A G SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.338 p.N113S 0.999 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 58 13 18.31 21 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126707774 126707774 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 3 126707774 126707774 A G SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.338 p.N113S 0.999 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 66 11 13.92 53 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126708574 126708574 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 126708574 126708574 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.1138 p.E380K 0.959 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 74 23 23.71 100 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126723998 126723998 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 126723998 126723998 C T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known silent c.1809 p.F603 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 24 6 20.00 21 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126733114 126733114 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 126733114 126733114 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.2500 p.E834K 0.996 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 13 7 35.00 14 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126733396 126733396 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 126733396 126733396 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.2680 p.E894K 0.983 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 37 11 22.92 25 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126736417 126736417 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 126736417 126736417 C T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known silent c.3426 p.T1142 0.873 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 145 51 25.89 255 0 0.00 PLXNA1 5361 genome.wustl.edu 37 3 126737155 126737155 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 126737155 126737155 G T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known nonsense c.3679 p.E1227* 0.995 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 16 4 20.00 12 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208199993 208199994 + RNA INS - - TC TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 208199993 208199994 - TC INS PLXNA2 ENST00000483048 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PLXNA2 HGNC ENSG00000076356 11 4 26.67 8 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208201416 208201416 + Nonsense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 208201416 208201416 C A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known nonsense c.5527 p.E1843* 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 103 55 34.81 92 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208218010 208218010 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 208218010 208218010 G A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known silent c.3717 p.I1239 0.996 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 17 11 39.29 37 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208219282 208219282 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 208219282 208219282 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.3436 p.E1146K 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 22 11 33.33 31 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208224391 208224391 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 208224391 208224391 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.3218 p.R1073K 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 44 27 37.50 39 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208383573 208383573 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 208383573 208383573 C T SNP PLXNA2 ENST00000460870 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PLXNA2 HGNC ENSG00000076356 22 14 38.89 36 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208383784 208383784 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 208383784 208383784 G A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known silent c.1212 p.F404 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 35 18 33.96 45 0 0.00 PLXNA2 5362 genome.wustl.edu 37 1 208390910 208390910 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 208390910 208390910 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 72 24 25.00 83 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153692561 153692561 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 153692561 153692561 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1733 p.A578V 0.194 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 26 23 46.94 34 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153693147 153693147 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 153693147 153693147 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 12 3 18.75 23 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153693147 153693147 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 153693147 153693147 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 50 34 40.48 20 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153694021 153694021 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 153694021 153694021 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2363 p.A788V 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 15 3 16.67 30 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153694354 153694354 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 153694354 153694354 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2609 p.R870Q 0.007 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 62 13 17.33 35 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153694577 153694577 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153694577 153694577 C A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2763 p.D921E 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 136 27 16.56 195 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153694817 153694817 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 153694817 153694817 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known silent c.2898 p.V966 0.045 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 95 32 25.20 83 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153695476 153695476 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 153695476 153695476 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.3184 p.G1062S 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 87 28 24.35 154 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153696205 153696205 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153696205 153696205 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known silent c.3681 p.G1227 0.340 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 32 16 33.33 44 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153697028 153697028 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153697028 153697028 A G SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.4243 p.M1415V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 135 44 24.58 163 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153697543 153697543 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153697543 153697543 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.4579 p.E1527K 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 11 29 72.50 44 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153698895 153698895 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 153698895 153698895 G T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.5097 p.E1699D 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 19 8 29.63 47 0 0.00 PLXNA3 55558 genome.wustl.edu 37 X 153698913 153698913 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 153698913 153698913 G T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.5115 p.Q1705H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 93 24 20.51 91 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 131848964 131848964 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 131848964 131848964 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.4437 p.G1479 0.001 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 46 18 28.12 79 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 131853272 131853272 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 131853272 131853272 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.4077 p.I1359 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 42 16 27.59 68 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 131872231 131872231 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 131872231 131872231 T C SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.2992 p.R998G 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 50 14 21.88 46 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 131883280 131883280 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 131883280 131883280 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.2702 p.C901Y 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 40 7 14.89 61 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 131913203 131913203 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 131913203 131913203 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.1630 p.R544W 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 48 30 38.46 116 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 132169754 132169754 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 132169754 132169754 G T SNP PLXNA4 ENST00000378539 human ensembl 70_37 -1 known missense c.1390 p.Q464K 0.001 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 29 4 12.12 41 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 132192823 132192823 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 132192823 132192823 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.630 p.A210 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 16 4 20.00 25 0 0.00 PLXNA4 91584 genome.wustl.edu 37 7 132193251 132193251 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 132193251 132193251 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.202 p.V68I 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 53 18 25.00 53 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48459641 48459641 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48459641 48459641 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.3181 p.E1061K 0.994 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 45 15 25.00 60 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48459942 48459942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 48459942 48459942 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.2965 p.E989K 0.912 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 18 6 25.00 19 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48461614 48461614 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 48461614 48461614 G C SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.2081 p.P694R 0.976 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 8 5 38.46 9 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48463769 48463769 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 48463769 48463769 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.1390 p.E464K 0.993 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 16 11 40.74 20 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48465445 48465445 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48465445 48465445 G A SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known silent c.576 p.P192 0.018 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 16 8 33.33 37 0 0.00 PLXNB1 5364 genome.wustl.edu 37 3 48465618 48465618 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 48465618 48465618 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.403 p.E135K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 34 6 15.00 15 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719361 50719361 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 50719361 50719361 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3805 p.E1269K 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 61 14 18.67 102 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719367 50719367 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 50719367 50719367 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3799 p.V1267M 0.999 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 42 25 37.31 82 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719806 50719806 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 50719806 50719806 C A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.3645 p.V1215 0.557 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 23 15 39.47 43 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719808 50719808 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 50719808 50719808 C A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3643 p.V1215L 0.497 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 23 16 41.03 42 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719908 50719908 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50719908 50719908 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.3543 p.E1181 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 31 15 32.61 33 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50719913 50719913 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50719913 50719913 G A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3538 p.R1180C 0.213 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 28 14 33.33 32 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50724315 50724315 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 50724315 50724315 G A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known nonsense c.2002 p.Q668* 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 20 11 35.48 53 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50726395 50726395 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 50726395 50726395 G C SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.1452 p.P484 0.946 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 21 9 30.00 19 0 0.00 PLXNB2 23654 genome.wustl.edu 37 22 50728569 50728569 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50728569 50728569 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.445 p.E149K 0.998 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 61 10 14.08 91 0 0.00 PLXNB3 5365 genome.wustl.edu 37 X 153032607 153032607 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 153032607 153032607 C T SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known nonsense c.394 p.Q132* 0.903 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 20 7 25.93 29 0 0.00 PLXNB3 5365 genome.wustl.edu 37 X 153038720 153038720 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 153038720 153038720 G A SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known missense c.3011 p.R1004H 0.712 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 69 12 14.81 45 0 0.00 PLXNB3 5365 genome.wustl.edu 37 X 153039425 153039425 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 153039425 153039425 G T SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known missense c.3460 p.V1154L 0.092 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 75 9 10.71 69 0 0.00 PLXNB3 5365 genome.wustl.edu 37 X 153040415 153040415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153040415 153040415 G A SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known missense c.4081 p.E1361K 0.997 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 24 26 52.00 48 0 0.00 PLXNB3 5365 genome.wustl.edu 37 X 153042690 153042691 + Frame_Shift_Ins INS - - G TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d X 153042690 153042691 - G INS PLXNB3 ENST00000538966 human ensembl 70_37 +1 known frame_shift_ins c.5024_5025 p.V1678fs 0.998:0.849 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 9 3 25.00 10 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94543449 94543449 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 94543449 94543449 C A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.702 p.F234L 0.997 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 13 4 23.53 25 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94543449 94543449 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 94543449 94543449 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.702 p.F234 0.997 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 46 23 33.33 48 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94543544 94543544 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 94543544 94543544 G T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.797 p.R266L 0.999 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 42 16 27.59 60 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94543591 94543591 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 94543591 94543591 G C SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.844 p.D282H 0.999 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 18 8 29.63 35 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94653479 94653479 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 94653479 94653479 G A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.3220 p.E1074K 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 11 10 47.62 57 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94676114 94676114 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 94676114 94676114 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.3816 p.I1272 0.959 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 128 41 24.12 168 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94691157 94691157 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 94691157 94691157 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.4032 p.F1344 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 39 13 25.00 72 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94691184 94691184 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 94691184 94691184 G A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.4059 p.K1353 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 23 7 23.33 32 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94697586 94697586 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 94697586 94697586 G C SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.4441 p.E1481Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 65 19 22.62 69 0 0.00 PLXNC1 10154 genome.wustl.edu 37 12 94699043 94699043 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 94699043 94699043 G T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.4689 p.K1563N 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 23 17 42.50 75 0 0.00 PLXND1 23129 genome.wustl.edu 37 3 129284253 129284253 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 129284253 129284253 C T SNP PLXND1 ENST00000324093 human ensembl 70_37 -1 known missense c.4451 p.R1484Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 37 16 30.19 51 0 0.00 PLXND1 23129 genome.wustl.edu 37 3 129286613 129286613 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 129286613 129286613 C T SNP PLXND1 ENST00000324093 human ensembl 70_37 -1 known missense c.3901 p.E1301K 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 11 9 45.00 29 0 0.00 PM20D1 148811 genome.wustl.edu 37 1 205799287 205799287 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 205799287 205799287 C T SNP PM20D1 ENST00000469861 human ensembl 70_37 -1 putative rna NULL NULL 0.018 - - - no_errors PM20D1 HGNC ENSG00000162877 21 5 19.23 13 0 0.00 PM20D2 135293 genome.wustl.edu 37 6 89856088 89856088 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 89856088 89856088 G C SNP PM20D2 ENST00000275072 human ensembl 70_37 +1 known missense c.225 p.W75C 1.000 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 43 12 21.82 21 0 0.00 PM20D2 135293 genome.wustl.edu 37 6 89862863 89862863 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 89862863 89862863 C T SNP PM20D2 ENST00000275072 human ensembl 70_37 +1 known missense c.716 p.S239F 1.000 pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 93 20 17.70 130 0 0.00 PM20D2 135293 genome.wustl.edu 37 6 89871595 89871596 + Frame_Shift_Ins INS - - TACT TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 89871595 89871596 - TACT INS PM20D2 ENST00000275072 human ensembl 70_37 +1 known frame_shift_ins c.1142_1143 p.E383fs 1.000:0.993 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 72 33 31.43 94 0 0.00 PMCHL1 5369 genome.wustl.edu 37 5 22143074 22143074 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 22143074 22143074 G T SNP PMCHL1 ENST00000418902 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors PMCHL1 HGNC ENSG00000168967 23 4 14.81 25 0 0.00 PMCHL1 5369 genome.wustl.edu 37 5 22144060 22144060 + RNA DEL A A - TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 22144060 22144060 A - DEL PMCHL1 ENST00000418902 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PMCHL1 HGNC ENSG00000168967 8 3 27.27 8 0 0.00 PMEL 6490 genome.wustl.edu 37 12 56352293 56352293 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 56352293 56352293 G A SNP PMEL ENST00000360714 human ensembl 70_37 -1 known nonsense c.433 p.Q145* 0.994 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 35 29 44.62 47 0 0.00 PMEL 6490 genome.wustl.edu 37 12 56359789 56359789 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 56359789 56359789 G A SNP PMEL ENST00000360714 human ensembl 70_37 -1 known silent c.7 p.L3 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 27 16 37.21 57 0 0.00 PMF1 11243 genome.wustl.edu 37 1 156209491 156209491 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 156209491 156209491 G A SNP PMF1 ENST00000497069 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMF1 HGNC ENSG00000160783 5 4 44.44 15 0 0.00 PMFBP1 83449 genome.wustl.edu 37 16 72154011 72154011 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 72154011 72154011 G A SNP PMFBP1 ENST00000355636 human ensembl 70_37 -1 known missense c.2371 p.R791C 0.002 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 39 15 27.78 67 0 0.00 PMFBP1 83449 genome.wustl.edu 37 16 72159139 72159139 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 72159139 72159139 C G SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.2434 p.E812Q 0.983 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 48 12 20.00 62 0 0.00 PMFBP1 83449 genome.wustl.edu 37 16 72162565 72162565 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 72162565 72162565 C G SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.2094 p.L698F 0.010 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 60 19 24.05 64 0 0.00 PMFBP1 83449 genome.wustl.edu 37 16 72166674 72166674 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 72166674 72166674 C T SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.1420 p.E474K 0.396 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 68 26 27.66 75 0 0.00 PMFBP1 83449 genome.wustl.edu 37 16 72198702 72198702 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 72198702 72198702 G A SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known silent c.126 p.D42 0.982 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 24 10 29.41 33 0 0.00 PML 5371 genome.wustl.edu 37 15 74287202 74287202 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 74287202 74287202 C T SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.49 p.R17W 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 38 41 51.90 32 0 0.00 PML 5371 genome.wustl.edu 37 15 74290717 74290717 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 74290717 74290717 G A SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.502 p.E168K 0.992 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 22 9 29.03 33 0 0.00 PML 5371 genome.wustl.edu 37 15 74315241 74315241 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74315241 74315241 C G SNP PML ENST00000268058 human ensembl 70_37 +1 known silent c.675 p.L225 0.026 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 8 4 33.33 23 0 0.00 PML 5371 genome.wustl.edu 37 15 74315461 74315461 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 74315461 74315461 G C SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.895 p.E299Q 0.138 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 46 10 17.86 91 0 0.00 PML 5371 genome.wustl.edu 37 15 74315539 74315539 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 15 74315539 74315539 C T SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.973 p.R325C 1.000 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 20 7 25.93 31 0 0.00 PML 5371 genome.wustl.edu 37 15 74328176 74328176 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 74328176 74328176 G A SNP PML ENST00000268059 human ensembl 70_37 +1 known missense c.2374 p.E792K 0.004 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 59 25 29.76 76 0 0.00 PML 5371 genome.wustl.edu 37 15 74336918 74336918 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 74336918 74336918 G A SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.2218 p.E740K 0.025 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 21 16 43.24 24 0 0.00 PMM2 5373 genome.wustl.edu 37 16 8906893 8906893 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 8906893 8906893 G A SNP PMM2 ENST00000268261 human ensembl 70_37 +1 known missense c.569 p.R190K 0.992 pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC ENSG00000140650 133 50 27.32 201 0 0.00 PMP2 5375 genome.wustl.edu 37 8 82357056 82357056 + Missense_Mutation SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 82357056 82357056 G C SNP PMP2 ENST00000256103 human ensembl 70_37 -1 known missense c.242 p.T81S 0.186 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC ENSG00000147588 56 25 30.49 43 0 0.00 PMP2 5375 genome.wustl.edu 37 8 82357088 82357088 + Missense_Mutation SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 82357088 82357088 T A SNP PMP2 ENST00000256103 human ensembl 70_37 -1 known missense c.210 p.E70D 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC ENSG00000147588 58 7 10.77 71 0 0.00 PMP22 5376 genome.wustl.edu 37 17 15142858 15142858 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 15142858 15142858 G C SNP PMP22 ENST00000312280 human ensembl 70_37 -1 known missense c.249 p.F83L 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC ENSG00000109099 41 18 30.00 56 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 139309033 139309033 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.466 p.D156H 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 66 48 42.11 103 1 0.96 PMPCA 23203 genome.wustl.edu 37 9 139310756 139310756 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139310756 139310756 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.546 p.E182D 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 46 7 13.21 33 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139311359 139311359 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139311359 139311359 C T SNP PMPCA ENST00000462616 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMPCA HGNC ENSG00000165688 23 16 41.03 33 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139312472 139312472 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139312472 139312472 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.901 p.E301Q 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 55 15 21.13 55 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139312506 139312506 + Frame_Shift_Del DEL C C - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 139312506 139312506 C - DEL PMPCA ENST00000371717 human ensembl 70_37 +1 known frame_shift_del c.935 p.I314fs 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 94 49 34.27 76 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139312511 139312511 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 139312511 139312511 A G SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.940 p.I314V 0.993 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC ENSG00000165688 88 54 37.50 75 0 0.00 PMPCA 23203 genome.wustl.edu 37 9 139313653 139313653 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139313653 139313653 G C SNP PMPCA ENST00000462616 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMPCA HGNC ENSG00000165688 31 12 27.91 39 0 0.00 PMS1 5378 genome.wustl.edu 37 2 190660497 190660497 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 190660497 190660497 G T SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known missense c.135 p.E45D 0.999 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 17 10 37.04 45 0 0.00 PMS1 5378 genome.wustl.edu 37 2 190682823 190682823 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 190682823 190682823 G A SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known missense c.499 p.D167N 1.000 superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 12 4 25.00 28 0 0.00 PMS1 5378 genome.wustl.edu 37 2 190738302 190738302 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 190738302 190738302 G T SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known nonsense c.2554 p.E852* 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 15 7 31.82 25 0 0.00 PMS2 5395 genome.wustl.edu 37 7 6018285 6018285 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 6018285 6018285 C T SNP PMS2 ENST00000265849 human ensembl 70_37 -1 known silent c.2217 p.L739 0.988 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 2 27 93.10 42 0 0.00 PMS2 5395 genome.wustl.edu 37 7 6027075 6027075 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 6027075 6027075 C T SNP PMS2 ENST00000265849 human ensembl 70_37 -1 known missense c.1321 p.E441K 0.090 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 97 48 33.10 112 1 0.88 PMS2CL 441194 genome.wustl.edu 37 7 6777361 6777361 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 7 6777361 6777361 G A SNP PMS2CL ENST00000431453 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC ENSG00000187953 73 46 38.66 105 1 0.94 PMS2CL 441194 genome.wustl.edu 37 7 6777427 6777427 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 6777427 6777427 G A SNP PMS2CL ENST00000431453 human ensembl 70_37 +1 known rna NULL NULL 0.928 - - - no_errors PMS2CL HGNC ENSG00000187953 55 18 24.66 59 0 0.00 PMS2P3 5387 genome.wustl.edu 37 7 75145447 75145447 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75145447 75145447 C G SNP PMS2P3 ENST00000394921 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors PMS2P3 HGNC ENSG00000127957 58 40 40.82 108 0 0.00 PMS2P3 5387 genome.wustl.edu 37 7 75157021 75157021 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75157021 75157021 G A SNP PMS2P3 ENST00000394921 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors PMS2P3 HGNC ENSG00000127957 43 15 25.86 55 0 0.00 PMS2P4 5382 genome.wustl.edu 37 7 66760730 66760730 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 66760730 66760730 C T SNP PMS2P4 ENST00000414507 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PMS2P4 HGNC ENSG00000067601 166 67 28.76 218 1 0.46 PMVK 10654 genome.wustl.edu 37 1 154904829 154904829 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154904829 154904829 T A SNP PMVK ENST00000368467 human ensembl 70_37 -1 known missense c.158 p.Q53L 1.000 pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC ENSG00000163344 38 29 43.28 54 0 0.00 PNCK 139728 genome.wustl.edu 37 X 152935959 152935959 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 152935959 152935959 G T SNP PNCK ENST00000447676 human ensembl 70_37 -1 known missense c.1234 p.R412S 0.005 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PNCK HGNC ENSG00000130822 45 30 40.00 66 0 0.00 PNCK 139728 genome.wustl.edu 37 X 152938100 152938100 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 152938100 152938100 C T SNP PNCK ENST00000447676 human ensembl 70_37 -1 known missense c.370 p.V124M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PNCK HGNC ENSG00000130822 61 9 12.86 37 0 0.00 PNISR 25957 genome.wustl.edu 37 6 99849006 99849006 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 99849006 99849006 G A SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.1828 p.R610W 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 28 21 42.86 41 0 0.00 PNISR 25957 genome.wustl.edu 37 6 99849308 99849308 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 99849308 99849308 C G SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.1526 p.R509T 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 15 6 28.57 26 0 0.00 PNISR 25957 genome.wustl.edu 37 6 99854029 99854029 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 99854029 99854029 C T SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 24 14 36.84 34 0 0.00 PNISR 25957 genome.wustl.edu 37 6 99857071 99857071 + Silent SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 99857071 99857071 C A SNP PNISR ENST00000369239 human ensembl 70_37 -1 known silent c.651 p.V217 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 10 3 23.08 20 0 0.00 PNKD 25953 genome.wustl.edu 37 2 219209676 219209676 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 219209676 219209676 G A SNP PNKD ENST00000273077 human ensembl 70_37 +1 known missense c.1130 p.R377Q 0.198 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 2 4 66.67 19 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50364613 50364613 + Nonsense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 50364613 50364613 G A SNP PNKP ENST00000600910 human ensembl 70_37 -1 novel nonsense c.1348 p.R450* 0.993 NULL pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 50 34 40.00 80 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50365331 50365331 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50365331 50365331 G A SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.1158 p.L386 0.294 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 45 13 22.41 61 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50365343 50365343 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 50365343 50365343 G T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 43 15 25.86 60 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50365825 50365825 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 50365825 50365825 C T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.906 p.K302 1.000 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 30 7 18.92 36 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50368512 50368512 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 50368512 50368512 G A SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.370 p.L124 0.158 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 41 8 16.33 39 0 0.00 PNKP 11284 genome.wustl.edu 37 19 50369700 50369700 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50369700 50369700 C T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known missense c.154 p.E52K 1.000 superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 181 34 15.81 211 0 0.00 PNLDC1 154197 genome.wustl.edu 37 6 160222178 160222178 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 160222178 160222178 G C SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.135 p.K45N 0.994 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 83 11 11.70 124 0 0.00 PNLDC1 154197 genome.wustl.edu 37 6 160229830 160229830 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 160229830 160229830 G A SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known silent c.588 p.T196 0.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 27 7 20.59 30 0 0.00 PNLDC1 154197 genome.wustl.edu 37 6 160240108 160240108 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 160240108 160240108 G A SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.1355 p.R452Q 0.010 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 29 7 19.44 23 0 0.00 PNLDC1 154197 genome.wustl.edu 37 6 160240375 160240375 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 160240375 160240375 G T SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.1490 p.C497F 0.563 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 30 4 11.76 34 0 0.00 PNLIP 5406 genome.wustl.edu 37 10 118307944 118307944 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 118307944 118307944 C A SNP PNLIP ENST00000369221 human ensembl 70_37 +1 known missense c.274 p.H92N 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 14 13 48.15 37 0 0.00 PNLIP 5406 genome.wustl.edu 37 10 118314792 118314792 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 10 118314792 118314792 C T SNP PNLIP ENST00000369221 human ensembl 70_37 +1 known missense c.674 p.P225L 0.929 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 12 8 40.00 24 0 0.00 PNLIP 5406 genome.wustl.edu 37 10 118319999 118319999 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 118319999 118319999 G A SNP PNLIP ENST00000369221 human ensembl 70_37 +1 known missense c.1132 p.G378R 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2 pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 5 4 44.44 32 0 0.00 PNLIPRP1 5407 genome.wustl.edu 37 10 118353847 118353847 + Missense_Mutation SNP G G C TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 10 118353847 118353847 G C SNP PNLIPRP1 ENST00000497792 human ensembl 70_37 +1 known missense c.350 p.R117T 0.003 NULL pfam_Lipase_N,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 35 10 22.22 49 0 0.00 PNLIPRP1 5407 genome.wustl.edu 37 10 118354277 118354277 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 118354277 118354277 C T SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known silent c.366 p.C122 0.401 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 39 17 30.36 51 0 0.00 PNLIPRP1 5407 genome.wustl.edu 37 10 118357673 118357673 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 118357673 118357673 G C SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known missense c.809 p.W270S 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 43 20 31.75 80 0 0.00 PNLIPRP1 5407 genome.wustl.edu 37 10 118359565 118359565 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 118359565 118359565 G T SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known missense c.821 p.R274L 0.996 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 75 12 13.79 88 0 0.00 PNLIPRP2 5408 genome.wustl.edu 37 10 118380913 118380913 + RNA SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 118380913 118380913 G T SNP PNLIPRP2 ENST00000429325 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors PNLIPRP2 HGNC ENSG00000165862 30 4 11.76 34 0 0.00 PNLIPRP2 5408 genome.wustl.edu 37 10 118394403 118394403 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 118394403 118394403 C G SNP PNLIPRP2 ENST00000537242 human ensembl 70_37 +1 known nonsense c.869 p.S290* 0.037 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP2 HGNC ENSG00000165862 83 24 22.43 89 0 0.00 PNLIPRP2 5408 genome.wustl.edu 37 10 118404588 118404588 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 10 118404588 118404588 C T SNP PNLIPRP2 ENST00000537242 human ensembl 70_37 +1 known nonsense c.1387 p.Q463* 0.391 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP2 HGNC ENSG00000165862 36 27 42.19 69 0 0.00 PNLIPRP3 119548 genome.wustl.edu 37 10 118203952 118203952 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 118203952 118203952 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.383 p.R128L 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 22 4 15.38 44 0 0.00 PNLIPRP3 119548 genome.wustl.edu 37 10 118225615 118225615 + Nonsense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 118225615 118225615 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known nonsense c.862 p.E288* 0.066 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 54 28 34.15 88 0 0.00 PNLIPRP3 119548 genome.wustl.edu 37 10 118231381 118231381 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 118231381 118231381 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.1162 p.A388S 0.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 8 85 91.40 74 0 0.00 PNLIPRP3 119548 genome.wustl.edu 37 10 118236174 118236174 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 118236174 118236174 G C SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.1183 p.E395Q 0.055 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 120 30 20.00 146 0 0.00 PNMA1 9240 genome.wustl.edu 37 14 74179653 74179653 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74179653 74179653 C T SNP PNMA1 ENST00000316836 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 30 15 33.33 33 0 0.00 PNMA1 9240 genome.wustl.edu 37 14 74180160 74180160 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 74180160 74180160 C T SNP PNMA1 ENST00000316836 human ensembl 70_37 -1 known silent c.183 p.A61 0.994 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 41 12 22.64 38 0 0.00 PNMA2 10687 genome.wustl.edu 37 8 26366151 26366151 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 26366151 26366151 C A SNP PNMA2 ENST00000522362 human ensembl 70_37 -1 known nonsense c.121 p.E41* 1.000 NULL pfam_Retrotrans_gag - no_errors PNMA2 HGNC ENSG00000240694 6 9 60.00 24 0 0.00 PNMA3 29944 genome.wustl.edu 37 X 152226470 152226470 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 152226470 152226470 C T SNP PNMA3 ENST00000370264 human ensembl 70_37 +1 known missense c.1058 p.A353V 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 30 59 66.29 58 0 0.00 PNMA5 114824 genome.wustl.edu 37 X 152158873 152158873 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 152158873 152158873 G T SNP PNMA5 ENST00000361887 human ensembl 70_37 -1 known missense c.1270 p.P424T 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 34 27 44.26 57 0 0.00 PNMA5 114824 genome.wustl.edu 37 X 152159505 152159505 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 152159505 152159505 C T SNP PNMA5 ENST00000361887 human ensembl 70_37 -1 known missense c.638 p.R213Q 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 37 33 47.14 40 0 0.00 PNMAL1 55228 genome.wustl.edu 37 19 46974175 46974175 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 46974175 46974175 C G SNP PNMAL1 ENST00000313683 human ensembl 70_37 -1 known missense c.118 p.E40Q 0.944 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 21 4 16.00 17 0 0.00 PNN 5411 genome.wustl.edu 37 14 39648436 39648436 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 39648436 39648436 G C SNP PNN ENST00000216832 human ensembl 70_37 +1 known missense c.640 p.E214Q 1.000 pfam_Pinin_SDK_MemA pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 28 5 15.15 23 0 0.00 PNN 5411 genome.wustl.edu 37 14 39650617 39650617 + Missense_Mutation SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 39650617 39650617 T G SNP PNN ENST00000216832 human ensembl 70_37 +1 known missense c.1704 p.N568K 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 57 15 20.83 85 0 0.00 PNN 5411 genome.wustl.edu 37 14 39651657 39651657 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 39651657 39651657 C T SNP PNN ENST00000557680 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PNN HGNC ENSG00000100941 24 11 31.43 31 0 0.00 PNO1 56902 genome.wustl.edu 37 2 68388847 68388847 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 68388847 68388847 G C SNP PNO1 ENST00000263657 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors PNO1 HGNC ENSG00000115946 33 12 26.67 64 0 0.00 PNOC 5368 genome.wustl.edu 37 8 28186791 28186791 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 28186791 28186791 C T SNP PNOC ENST00000301908 human ensembl 70_37 +1 known silent c.117 p.F39 0.893 pfam_Opioid_neupept,prints_Nociceptin pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept - no_errors PNOC HGNC ENSG00000168081 18 9 33.33 39 0 0.00 PNP 4860 genome.wustl.edu 37 14 20944590 20944590 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 20944590 20944590 C T SNP PNP ENST00000361505 human ensembl 70_37 +1 known nonsense c.700 p.R234* 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase - no_errors PNP HGNC ENSG00000198805 110 42 27.63 159 0 0.00 PNPLA1 285848 genome.wustl.edu 37 6 36269960 36269960 + Silent SNP A A T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 36269960 36269960 A T SNP PNPLA1 ENST00000457797 human ensembl 70_37 +1 known silent c.1101 p.L367 0.005 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 33 18 35.29 54 0 0.00 PNPLA1 285848 genome.wustl.edu 37 6 36270034 36270034 + Frame_Shift_Del DEL C C - TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 6 36270034 36270034 C - DEL PNPLA1 ENST00000457797 human ensembl 70_37 +1 known frame_shift_del c.1175 p.P393fs 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 10 8 44.44 18 0 0.00 PNPLA2 57104 genome.wustl.edu 37 11 821706 821706 + Missense_Mutation SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 821706 821706 A G SNP PNPLA2 ENST00000336615 human ensembl 70_37 +1 known missense c.266 p.N89S 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 23 17 42.50 31 0 0.00 PNPLA3 80339 genome.wustl.edu 37 22 44319878 44319878 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 44319878 44319878 G A SNP PNPLA3 ENST00000216180 human ensembl 70_37 +1 known silent c.87 p.L29 0.998 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 23 7 23.33 53 0 0.00 PNPLA3 80339 genome.wustl.edu 37 22 44319931 44319931 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 44319931 44319931 C T SNP PNPLA3 ENST00000216180 human ensembl 70_37 +1 known missense c.140 p.S47L 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 15 10 40.00 13 0 0.00 PNPLA5 150379 genome.wustl.edu 37 22 44282265 44282266 + Frame_Shift_Ins INS - - C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 44282265 44282266 - C INS PNPLA5 ENST00000216177 human ensembl 70_37 -1 known frame_shift_ins c.867_866 p.L290fs 0.001:0.022 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 82 10 10.87 116 0 0.00 PNPLA5 150379 genome.wustl.edu 37 22 44287689 44287689 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 22 44287689 44287689 G A SNP PNPLA5 ENST00000216177 human ensembl 70_37 -1 known silent c.72 p.H24 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 13 7 33.33 14 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7606555 7606555 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 7606555 7606555 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known silent c.1180 p.L394 0.958 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 68 39 36.45 93 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7614939 7614939 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7614939 7614939 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known silent c.1782 p.F594 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 14 18 56.25 51 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7618874 7618874 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 7618874 7618874 G C SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.2404 p.E802Q 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 36 4 10.00 47 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7619550 7619550 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 7619550 7619550 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known nonsense c.2605 p.R869* 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 94 50 34.72 137 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7619897 7619897 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7619897 7619897 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.2783 p.C928Y 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 40 8 16.67 40 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7626141 7626141 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7626141 7626141 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.3991 p.D1331N 0.985 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 10 10 50.00 17 0 0.00 PNPLA6 10908 genome.wustl.edu 37 19 7626141 7626141 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7626141 7626141 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.3991 p.D1331N 0.985 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 16 16 50.00 27 0 0.00 PNPLA7 375775 genome.wustl.edu 37 9 140355119 140355119 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140355119 140355119 G A SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known silent c.3912 p.F1304 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 40 8 16.67 27 0 0.00 PNPLA7 375775 genome.wustl.edu 37 9 140356868 140356868 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 140356868 140356868 G A SNP PNPLA7 ENST00000492278 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 53 25 32.05 55 0 0.00 PNPLA7 375775 genome.wustl.edu 37 9 140396175 140396175 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 140396175 140396175 G A SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known missense c.1478 p.S493L 0.981 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 39 18 31.58 57 0 0.00 PNPLA7 375775 genome.wustl.edu 37 9 140400156 140400156 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140400156 140400156 C T SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known silent c.1383 p.E461 0.002 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 38 6 13.33 56 0 0.00 PNPLA8 50640 genome.wustl.edu 37 7 108136892 108136892 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 108136892 108136892 C G SNP PNPLA8 ENST00000483879 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA8 HGNC ENSG00000135241 4 4 50.00 9 0 0.00 PNPLA8 50640 genome.wustl.edu 37 7 108142958 108142958 + Silent SNP G G T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 108142958 108142958 G T SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known silent c.1335 p.L445 0.807 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 24 5 17.24 35 0 0.00 PNPLA8 50640 genome.wustl.edu 37 7 108154978 108154978 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 108154978 108154978 G A SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known nonsense c.958 p.Q320* 0.366 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 26 13 33.33 25 0 0.00 PNPLA8 50640 genome.wustl.edu 37 7 108154978 108154978 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 108154978 108154978 G A SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known nonsense c.958 p.Q320* 0.366 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 21 3 12.50 34 0 0.00 PNPO 55163 genome.wustl.edu 37 17 46019090 46019090 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 46019090 46019090 G A SNP PNPO ENST00000225573 human ensembl 70_37 +1 known missense c.49 p.E17K 0.000 NULL pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 11 44 80.00 34 0 0.00 PNPO 55163 genome.wustl.edu 37 17 46020749 46020749 + Nonsense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 46020749 46020749 T A SNP PNPO ENST00000225573 human ensembl 70_37 +1 known nonsense c.216 p.C72* 1.000 superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 32 19 37.25 79 0 0.00 PNPT1 87178 genome.wustl.edu 37 2 55883471 55883471 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 55883471 55883471 G A SNP PNPT1 ENST00000415374 human ensembl 70_37 -1 known silent c.1320 p.V440 0.951 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 33 16 32.65 46 0 0.00 PNPT1 87178 genome.wustl.edu 37 2 55906874 55906874 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55906874 55906874 C A SNP PNPT1 ENST00000415374 human ensembl 70_37 -1 known nonsense c.622 p.E208* 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 7 5 41.67 17 0 0.00 PNRC1 10957 genome.wustl.edu 37 6 89790830 89790830 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 89790830 89790830 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.217 p.R73C 0.115 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 21 5 19.23 18 0 0.00 PNRC1 10957 genome.wustl.edu 37 6 89790830 89790830 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 89790830 89790830 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.217 p.R73C 0.115 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 34 7 17.07 43 0 0.00 PNRC1 10957 genome.wustl.edu 37 6 89790884 89790884 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 89790884 89790884 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.271 p.R91W 0.995 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 22 6 21.43 19 0 0.00 POC1A 25886 genome.wustl.edu 37 3 52159161 52159161 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 52159161 52159161 C T SNP POC1A ENST00000296484 human ensembl 70_37 -1 known missense c.850 p.E284K 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1A HGNC ENSG00000164087 49 18 26.87 77 0 0.00 POC1B 282809 genome.wustl.edu 37 12 89815013 89815013 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 89815013 89815013 G T SNP POC1B ENST00000313546 human ensembl 70_37 -1 known silent c.1354 p.R452 1.000 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 25 4 13.79 16 0 0.00 POC1B 282809 genome.wustl.edu 37 12 89860565 89860565 + Missense_Mutation SNP T T C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 89860565 89860565 T C SNP POC1B ENST00000378528 human ensembl 70_37 -1 known missense c.374 p.K125R 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1B HGNC ENSG00000139323 44 12 21.43 60 0 0.00 POC1B 282809 genome.wustl.edu 37 12 89890968 89890968 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 89890968 89890968 C T SNP POC1B ENST00000313546 human ensembl 70_37 -1 known silent c.252 p.V84 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 33 14 29.79 53 0 0.00 PODN 127435 genome.wustl.edu 37 1 53537219 53537219 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53537219 53537219 G C SNP PODN ENST00000312553 human ensembl 70_37 +1 known missense c.469 p.E157Q 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 21 23 52.27 40 0 0.00 PODNL1 79883 genome.wustl.edu 37 19 14042666 14042666 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 14042666 14042666 C T SNP PODNL1 ENST00000587954 human ensembl 70_37 -1 putative silent c.407 p.*136 0.775 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 19 11 36.67 22 0 0.00 PODXL 5420 genome.wustl.edu 37 7 131195681 131195681 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 131195681 131195681 C T SNP PODXL ENST00000541194 human ensembl 70_37 -1 known silent c.618 p.S206 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 23 85 78.70 77 0 0.00 PODXL2 50512 genome.wustl.edu 37 3 127358323 127358323 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 127358323 127358323 G A SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known silent c.306 p.E102 1.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 81 30 27.03 71 0 0.00 PODXL2 50512 genome.wustl.edu 37 3 127379482 127379482 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 127379482 127379482 G A SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known missense c.611 p.R204H 0.001 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 54 6 10.00 37 0 0.00 PODXL2 50512 genome.wustl.edu 37 3 127381124 127381124 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 127381124 127381124 C G SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known missense c.1176 p.I392M 1.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 36 5 11.90 42 0 0.00 POFUT1 23509 genome.wustl.edu 37 20 30797944 30797944 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 30797944 30797944 G C SNP POFUT1 ENST00000375749 human ensembl 70_37 +1 known missense c.195 p.L65F 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 75 11 12.79 71 0 0.00 POFUT2 23275 genome.wustl.edu 37 21 46705580 46705580 + RNA SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 46705580 46705580 C G SNP POFUT2 ENST00000476653 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors POFUT2 HGNC ENSG00000186866 12 6 33.33 21 0 0.00 POGK 57645 genome.wustl.edu 37 1 166810229 166810229 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 166810229 166810229 G A SNP POGK ENST00000367875 human ensembl 70_37 +1 known silent c.36 p.L12 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 40 13 24.07 52 0 0.00 POGK 57645 genome.wustl.edu 37 1 166818801 166818801 + Missense_Mutation SNP C C A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 166818801 166818801 C A SNP POGK ENST00000367875 human ensembl 70_37 +1 known missense c.985 p.Q329K 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 23 20 46.51 23 0 0.00 POGLUT1 56983 genome.wustl.edu 37 3 119196263 119196263 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 119196263 119196263 G C SNP POGLUT1 ENST00000295588 human ensembl 70_37 +1 known missense c.424 p.E142Q 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 26 23 46.94 52 0 0.00 POGLUT1 56983 genome.wustl.edu 37 3 119204198 119204198 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 119204198 119204198 A G SNP POGLUT1 ENST00000295588 human ensembl 70_37 +1 known missense c.602 p.K201R 0.996 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 71 8 10.00 100 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151377334 151377334 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 151377334 151377334 C G SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.4177 p.E1393Q 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 15 9 37.50 15 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151379713 151379713 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 151379713 151379713 C G SNP POGZ ENST00000271715 human ensembl 70_37 -1 known silent c.2430 p.V810 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 32 4 11.11 29 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151380630 151380630 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 151380630 151380630 G C SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.2321 p.S774C 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 40 32 44.44 52 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151381262 151381262 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 151381262 151381262 G A SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.1969 p.L657F 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 39 23 37.10 59 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151400770 151400770 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151400770 151400770 C T SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.688 p.V230I 0.998 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 101 26 20.47 165 0 0.00 POGZ 23126 genome.wustl.edu 37 1 151403234 151403234 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 151403234 151403234 G A SNP POGZ ENST00000271715 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 60 14 18.92 84 0 0.00 POLA1 5422 genome.wustl.edu 37 X 24717569 24717569 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 24717569 24717569 C G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.71 p.S24C 0.415 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 48 26 35.14 75 0 0.00 POLA1 5422 genome.wustl.edu 37 X 24745188 24745188 + Missense_Mutation SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 24745188 24745188 C G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.1531 p.Q511E 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 23 19 45.24 33 0 0.00 POLA1 5422 genome.wustl.edu 37 X 24759593 24759593 + Missense_Mutation SNP A A G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 24759593 24759593 A G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.2318 p.Q773R 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 74 28 27.45 95 0 0.00 POLA1 5422 genome.wustl.edu 37 X 24859948 24859948 + Splice_Site SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 24859948 24859948 G C SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known splice_site c.3915+1 e33+1 1.000 - - - no_errors POLA1 HGNC ENSG00000101868 146 29 16.57 168 0 0.00 POLA1 5422 genome.wustl.edu 37 X 25013932 25013932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 25013932 25013932 G T SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.4272 p.K1424N 0.557 pfam_Znf_DNA-dir_DNA_pol_B_alpha pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 26 10 27.78 60 0 0.00 POLA2 23649 genome.wustl.edu 37 11 65062110 65062110 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 65062110 65062110 G A SNP POLA2 ENST00000265465 human ensembl 70_37 +1 known missense c.1447 p.E483K 1.000 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 80 17 17.53 57 0 0.00 POLA2 23649 genome.wustl.edu 37 11 65064734 65064734 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65064734 65064734 G A SNP POLA2 ENST00000265465 human ensembl 70_37 +1 known silent c.1791 p.R597 1.000 pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 25 44 63.77 57 0 0.00 POLA2 23649 genome.wustl.edu 37 11 65064746 65064746 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65064746 65064746 C G SNP POLA2 ENST00000534785 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLA2 HGNC ENSG00000014138 49 6 10.91 45 0 0.00 POLB 5423 genome.wustl.edu 37 8 42227439 42227439 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 42227439 42227439 G A SNP POLB ENST00000265421 human ensembl 70_37 +1 known missense c.846 p.M282I 1.000 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 29 22 43.14 48 0 0.00 POLD1 5424 genome.wustl.edu 37 19 50905324 50905324 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 50905324 50905324 G T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.532 p.G178W 0.061 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 77 72 48.32 127 0 0.00 POLD1 5424 genome.wustl.edu 37 19 50906815 50906815 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50906815 50906815 C T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known silent c.1203 p.F401 0.261 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 171 44 20.47 280 0 0.00 POLD1 5424 genome.wustl.edu 37 19 50906837 50906837 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 50906837 50906837 C T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.1225 p.R409W 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 34 47 58.02 33 0 0.00 POLD1 5424 genome.wustl.edu 37 19 50910593 50910593 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50910593 50910593 G A SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.1696 p.E566K 0.995 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 104 23 18.11 129 0 0.00 POLD1 5424 genome.wustl.edu 37 19 50912854 50912854 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50912854 50912854 G C SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known silent c.2085 p.V695 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 45 23 33.82 42 0 0.00 POLD2 5425 genome.wustl.edu 37 7 44155465 44155465 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 44155465 44155465 C G SNP POLD2 ENST00000406581 human ensembl 70_37 -1 known silent c.1047 p.V349 1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 15 11 42.31 28 0 0.00 POLD2 5425 genome.wustl.edu 37 7 44156597 44156597 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 44156597 44156597 G A SNP POLD2 ENST00000406581 human ensembl 70_37 -1 known missense c.599 p.S200F 1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 41 22 34.92 43 0 0.00 POLD3 10714 genome.wustl.edu 37 11 74323927 74323927 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74323927 74323927 G A SNP POLD3 ENST00000263681 human ensembl 70_37 +1 known silent c.264 p.V88 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 41 14 25.45 28 0 0.00 POLD3 10714 genome.wustl.edu 37 11 74329661 74329661 + Missense_Mutation SNP T T C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 74329661 74329661 T C SNP POLD3 ENST00000263681 human ensembl 70_37 +1 known missense c.472 p.S158P 0.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 9 4 30.77 24 0 0.00 POLE 5426 genome.wustl.edu 37 12 133215718 133215718 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133215718 133215718 A C SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.5578 p.F1860V 1.000 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 51 23 31.08 88 0 0.00 POLE 5426 genome.wustl.edu 37 12 133219510 133219510 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 133219510 133219510 C A SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.4657 p.G1553C 0.997 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 12 14 53.85 18 0 0.00 POLE 5426 genome.wustl.edu 37 12 133234542 133234542 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 133234542 133234542 G T SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.3323 p.A1108D 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 31 4 11.43 26 0 0.00 POLE 5426 genome.wustl.edu 37 12 133240966 133240966 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 133240966 133240966 C G SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.2584 p.E862Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 17 18 51.43 47 0 0.00 POLE 5426 genome.wustl.edu 37 12 133253151 133253151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133253151 133253151 G A SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.923 p.S308F 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 7 9 56.25 19 0 0.00 POLE 5426 genome.wustl.edu 37 12 133253176 133253176 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 12 133253176 133253176 C T SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.898 p.E300K 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 21 13 38.24 24 0 0.00 POLE 5426 genome.wustl.edu 37 12 133256810 133256810 + Splice_Site SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 133256810 133256810 T A SNP POLE ENST00000455752 human ensembl 70_37 -1 known splice_site c.319-2 e4-2 1.000 - - - no_errors POLE HGNC ENSG00000177084 33 12 26.67 41 0 0.00 POLE2 5427 genome.wustl.edu 37 14 50154889 50154889 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50154889 50154889 G A SNP POLE2 ENST00000216367 human ensembl 70_37 -1 known silent c.33 p.L11 0.006 pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 23 13 36.11 45 0 0.00 POLE4 56655 genome.wustl.edu 37 2 75196616 75196616 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 75196616 75196616 C T SNP POLE4 ENST00000233699 human ensembl 70_37 +1 known rna NULL NULL 0.976 - - - no_errors POLE4 HGNC ENSG00000115350 45 26 36.62 61 0 0.00 POLG 5428 genome.wustl.edu 37 15 89862178 89862178 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 89862178 89862178 G A SNP POLG ENST00000268124 human ensembl 70_37 -1 known missense c.3257 p.S1086L 0.004 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 116 14 10.77 148 0 0.00 POLG 5428 genome.wustl.edu 37 15 89864064 89864064 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89864064 89864064 G T SNP POLG ENST00000268124 human ensembl 70_37 -1 known silent c.2914 p.R972 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 31 4 11.43 28 0 0.00 POLG 5428 genome.wustl.edu 37 15 89864364 89864364 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 89864364 89864364 C A SNP POLG ENST00000268124 human ensembl 70_37 -1 known missense c.2726 p.G909V 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 35 4 10.26 34 0 0.00 POLG 5428 genome.wustl.edu 37 15 89876861 89876861 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 89876861 89876861 C T SNP POLG ENST00000268124 human ensembl 70_37 -1 known missense c.125 p.R42Q 0.003 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 14 6 30.00 31 0 0.00 POLG2 11232 genome.wustl.edu 37 17 62473998 62473998 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 62473998 62473998 T A SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known missense c.1400 p.H467L 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 48 12 20.00 117 0 0.00 POLG2 11232 genome.wustl.edu 37 17 62474003 62474003 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 62474003 62474003 C G SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known missense c.1395 p.M465I 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 51 23 31.08 63 0 0.00 POLG2 11232 genome.wustl.edu 37 17 62488865 62488865 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62488865 62488865 C T SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known silent c.714 p.S238 0.001 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 16 9 34.62 31 0 0.00 POLI 11201 genome.wustl.edu 37 18 51809299 51809299 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51809299 51809299 G T SNP POLI ENST00000579534 human ensembl 70_37 +1 known nonsense c.889 p.E297* 1.000 pfam_DNA_pol_Y-fam_little_finger pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 15 7 31.82 42 0 0.00 POLK 51426 genome.wustl.edu 37 5 74848348 74848348 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 74848348 74848348 C T SNP POLK ENST00000241436 human ensembl 70_37 +1 known nonsense c.187 p.R63* 1.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 14 11 44.00 22 0 0.00 POLK 51426 genome.wustl.edu 37 5 74865228 74865228 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 74865228 74865228 G A SNP POLK ENST00000241436 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 11 11 50.00 12 0 0.00 POLK 51426 genome.wustl.edu 37 5 74865282 74865282 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 74865282 74865282 G A SNP POLK ENST00000241436 human ensembl 70_37 +1 known missense c.373 p.D125N 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 15 10 40.00 14 0 0.00 POLK 51426 genome.wustl.edu 37 5 74877066 74877066 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 74877066 74877066 G T SNP POLK ENST00000241436 human ensembl 70_37 +1 known nonsense c.727 p.E243* 0.291 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 57 23 28.75 45 0 0.00 POLL 27343 genome.wustl.edu 37 10 103339545 103339545 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 103339545 103339545 C G SNP POLL ENST00000299206 human ensembl 70_37 -1 known missense c.1393 p.E465Q 1.000 smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 17 10 37.04 18 0 0.00 POLL 27343 genome.wustl.edu 37 10 103341567 103341568 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 103341567 103341568 - T INS POLL ENST00000463515 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors POLL HGNC ENSG00000166169 32 4 11.11 37 0 0.00 POLM 27434 genome.wustl.edu 37 7 44112891 44112891 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44112891 44112891 C T SNP POLM ENST00000395831 human ensembl 70_37 -1 novel missense c.1297 p.E433K 1.000 NULL superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X - no_errors POLM HGNC ENSG00000122678 14 19 55.88 61 0 0.00 POLM 27434 genome.wustl.edu 37 7 44113028 44113028 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44113028 44113028 C T SNP POLM ENST00000395831 human ensembl 70_37 -1 novel missense c.1160 p.G387E 0.002 smart_DNA-dir_DNA_pol_X superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X - no_errors POLM HGNC ENSG00000122678 16 19 54.29 33 0 0.00 POLM 27434 genome.wustl.edu 37 7 44113615 44113615 + Frame_Shift_Del DEL G G - TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 44113615 44113615 G - DEL POLM ENST00000242248 human ensembl 70_37 -1 known frame_shift_del c.1081 p.L361fs 0.999 smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 82 53 39.26 126 0 0.00 POLM 27434 genome.wustl.edu 37 7 44120006 44120006 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 44120006 44120006 C G SNP POLM ENST00000445616 human ensembl 70_37 -1 known missense c.437 p.G146A 0.001 NULL superfamily_BRCT_dom,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase - no_errors POLM HGNC ENSG00000122678 67 28 29.47 48 0 0.00 POLN 353497 genome.wustl.edu 37 4 2160903 2160903 + Missense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 2160903 2160903 C A SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1590 p.K530N 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 26 3 10.34 66 0 0.00 POLN 353497 genome.wustl.edu 37 4 2176453 2176453 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 2176453 2176453 C T SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1274 p.R425H 0.998 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 19 15 44.12 21 0 0.00 POLN 353497 genome.wustl.edu 37 4 2176478 2176478 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2176478 2176478 C A SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1249 p.D417Y 0.914 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 8 4 33.33 20 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121158950 121158950 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 121158950 121158950 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.7278 p.F2426L 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 85 13 13.27 56 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121186375 121186375 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 121186375 121186375 G T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6958 p.P2320T 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 22 20 47.62 32 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121186375 121186375 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 121186375 121186375 G T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6958 p.P2320T 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 23 17 42.50 24 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121190912 121190912 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 121190912 121190912 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known nonsense c.6643 p.Q2215* 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 20 17 45.95 122 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121195434 121195434 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 121195434 121195434 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6358 p.L2120V 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 39 15 27.78 72 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121206926 121206927 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121206926 121206927 - T INS POLQ ENST00000264233 human ensembl 70_37 -1 known frame_shift_ins c.4852_4851 p.S1617fs 0.000:0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 25 6 19.35 52 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121206962 121206962 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 121206962 121206962 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known nonsense c.4816 p.Q1606* 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 35 17 32.69 45 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121208086 121208086 + Nonsense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 121208086 121208086 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known nonsense c.3692 p.S1231* 0.001 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 65 10 13.33 41 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121208673 121208673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121208673 121208673 C G SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.3105 p.M1035I 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 68 21 23.60 50 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121208843 121208843 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121208843 121208843 C T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.2935 p.E979K 0.591 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 36 4 10.00 22 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121209199 121209199 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121209199 121209199 C T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.2579 p.R860Q 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 32 19 37.25 68 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121240856 121240856 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 121240856 121240856 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.1249 p.H417D 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 27 11 28.95 27 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121263576 121263576 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 121263576 121263576 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.341 p.S114L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 72 13 15.29 84 0 0.00 POLQ 10721 genome.wustl.edu 37 3 121263718 121263718 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121263718 121263718 C G SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.199 p.D67H 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 36 13 26.53 50 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86257483 86257483 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 86257483 86257483 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4615 p.D1539H 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 54 12 18.18 64 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86258468 86258468 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 86258468 86258468 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.4563 p.E1521 0.207 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 147 72 32.88 217 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86259429 86259429 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 86259429 86259429 G C SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4238 p.S1413C 0.988 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 92 17 15.60 156 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86259502 86259502 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 86259502 86259502 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4165 p.E1389Q 0.996 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 44 6 12.00 29 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86260836 86260836 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 86260836 86260836 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4109 p.R1370Q 0.299 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 80 15 15.79 54 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86265930 86265930 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 86265930 86265930 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.3927 p.Q1309 0.123 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 55 11 16.67 70 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86266016 86266016 + RNA SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 86266016 86266016 C A SNP POLR1A ENST00000492034 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors POLR1A HGNC ENSG00000068654 19 5 20.83 30 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86266480 86266480 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 86266480 86266480 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.3846 p.K1282 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 52 10 16.13 70 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86267661 86267661 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 86267661 86267661 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.3594 p.L1198 0.193 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 11 5 31.25 21 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86269049 86269049 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 86269049 86269049 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.3535 p.E1179Q 0.176 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 34 11 24.44 48 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86276325 86276325 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 86276325 86276325 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.2433 p.K811N 0.996 NULL pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 38 21 35.59 49 0 0.00 POLR1A 25885 genome.wustl.edu 37 2 86315726 86315727 + Frame_Shift_Del DEL CA CA - TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 86315726 86315727 CA - DEL POLR1A ENST00000263857 human ensembl 70_37 -1 known frame_shift_del c.693_692 p.V231fs 0.981:0.984 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 19 10 34.48 30 0 0.00 POLR1B 84172 genome.wustl.edu 37 2 113306925 113306925 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 113306925 113306925 G T SNP POLR1B ENST00000541869 human ensembl 70_37 +1 known missense c.688 p.A230S 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 28 4 12.50 24 0 0.00 POLR1B 84172 genome.wustl.edu 37 2 113306970 113306970 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 113306970 113306970 C G SNP POLR1B ENST00000541869 human ensembl 70_37 +1 known missense c.733 p.Q245E 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 11 9 45.00 26 0 0.00 POLR1B 84172 genome.wustl.edu 37 2 113333262 113333262 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 113333262 113333262 G A SNP POLR1B ENST00000541869 human ensembl 70_37 +1 known missense c.3478 p.E1160K 1.000 pfam_RNA_pol_Rpb2_7 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 27 11 28.95 34 0 0.00 POLR1C 9533 genome.wustl.edu 37 6 43487119 43487119 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43487119 43487119 G C SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.190 p.D64H 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 34 29 46.03 71 0 0.00 POLR1C 9533 genome.wustl.edu 37 6 43488402 43488402 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 43488402 43488402 G T SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.695 p.S232I 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 18 4 18.18 43 0 0.00 POLR1C 9533 genome.wustl.edu 37 6 43489001 43489001 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 43489001 43489001 G A SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.1004 p.R335H 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 18 6 25.00 25 0 0.00 POLR1D 51082 genome.wustl.edu 37 13 28196021 28196021 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 28196021 28196021 C G SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 53 17 24.29 33 0 0.00 POLR1D 51082 genome.wustl.edu 37 13 28196057 28196057 + RNA SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 28196057 28196057 C G SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 64 21 24.71 46 0 0.00 POLR1D 51082 genome.wustl.edu 37 13 28196057 28196057 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 28196057 28196057 C T SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 26 18 40.91 63 0 0.00 POLR1D 51082 genome.wustl.edu 37 13 28240167 28240167 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 28240167 28240167 G A SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors POLR1D HGNC ENSG00000186184 40 5 10.87 64 0 0.00 POLR1E 64425 genome.wustl.edu 37 9 37503116 37503116 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 37503116 37503116 G C SNP POLR1E ENST00000377792 human ensembl 70_37 +1 known missense c.1363 p.D455H 0.803 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 41 23 35.94 31 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7388154 7388154 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 7388154 7388154 G C SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.71 p.G24A 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 3 2 40.00 9 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7400231 7400231 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7400231 7400231 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.686 p.S229L 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 9 22 70.97 55 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7401106 7401106 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 7401106 7401106 C G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.1119 p.L373 0.982 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 70 30 30.00 46 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7403990 7403990 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7403990 7403990 G A SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.1704 p.S568 0.214 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 13 6 31.58 22 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7406444 7406444 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 7406444 7406444 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.2761 p.R921C 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 33 34 50.75 62 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7406712 7406712 + Silent SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 7406712 7406712 C G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.2937 p.L979 0.667 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 58 14 19.44 19 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7407087 7407087 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7407087 7407087 G C SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.3217 p.E1073Q 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 18 9 33.33 58 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7416456 7416456 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 7416456 7416456 A G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.4873 p.T1625A 0.927 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 93 52 35.14 122 0 0.00 POLR2A 5430 genome.wustl.edu 37 17 7416923 7416923 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7416923 7416923 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.5340 p.S1780 0.997 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 77 57 42.54 100 0 0.00 POLR2B 5431 genome.wustl.edu 37 4 57872999 57872999 + Missense_Mutation SNP T T G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 57872999 57872999 T G SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.1235 p.L412R 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 37 11 22.92 28 0 0.00 POLR2B 5431 genome.wustl.edu 37 4 57876625 57876625 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57876625 57876625 G A SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_RNA_pol_Rpb2_3 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 32 12 27.27 50 0 0.00 POLR2B 5431 genome.wustl.edu 37 4 57883348 57883348 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 57883348 57883348 C T SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.2095 p.H699Y 1.000 pfam_RNA_pol_Rpb2_5 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 64 12 15.79 69 0 0.00 POLR2B 5431 genome.wustl.edu 37 4 57888400 57888400 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 57888400 57888400 G A SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.2503 p.E835K 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 51 29 36.25 52 0 0.00 POLR2B 5431 genome.wustl.edu 37 4 57891674 57891674 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57891674 57891674 C T SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.957 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 36 15 29.41 34 0 0.00 POLR2C 5432 genome.wustl.edu 37 16 57496588 57496588 + RNA SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57496588 57496588 C A SNP POLR2C ENST00000564651 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2C HGNC ENSG00000102978 23 13 36.11 33 0 0.00 POLR2C 5432 genome.wustl.edu 37 16 57496672 57496672 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57496672 57496672 G A SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known silent c.36 p.T12 0.910 superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 50 6 10.71 49 0 0.00 POLR2C 5432 genome.wustl.edu 37 16 57496673 57496673 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57496673 57496673 G A SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known missense c.37 p.E13K 1.000 superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 50 6 10.71 51 0 0.00 POLR2C 5432 genome.wustl.edu 37 16 57503910 57503910 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57503910 57503910 G C SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known silent c.477 p.L159 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 69 16 18.82 72 0 0.00 POLR2E 5434 genome.wustl.edu 37 19 1090928 1090928 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 1090928 1090928 G A SNP POLR2E ENST00000215587 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su - no_errors POLR2E HGNC ENSG00000099817 93 33 26.19 116 0 0.00 POLR2E 5434 genome.wustl.edu 37 19 1093795 1093795 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1093795 1093795 G A SNP POLR2E ENST00000591767 human ensembl 70_37 -1 known silent c.165 p.L55 0.005 NULL superfamily_RNA_pol_Rpb5_N - no_errors POLR2E HGNC ENSG00000099817 50 34 40.48 50 0 0.00 POLR2E 5434 genome.wustl.edu 37 19 1093961 1093961 + Silent SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1093961 1093961 G T SNP POLR2E ENST00000215587 human ensembl 70_37 -1 known silent c.174 p.L58 0.986 pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su - no_errors POLR2E HGNC ENSG00000099817 72 39 35.14 96 0 0.00 POLR2F 5435 genome.wustl.edu 37 22 38349778 38349778 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38349778 38349778 G A SNP POLR2F ENST00000492213 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2F HGNC ENSG00000100142 56 19 25.33 74 0 0.00 POLR2F 5435 genome.wustl.edu 37 22 38355371 38355371 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38355371 38355371 G A SNP POLR2F ENST00000442738 human ensembl 70_37 +1 known missense c.109 p.E37K 0.994 superfamily_RNA_poly_omega/K/RPABC2 pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2 - no_errors POLR2F HGNC ENSG00000100142 36 11 23.40 40 0 0.00 POLR2H 5437 genome.wustl.edu 37 3 184082932 184082932 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184082932 184082932 C T SNP POLR2H ENST00000296223 human ensembl 70_37 +1 known missense c.169 p.R57W 1.000 pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8 pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8 - no_errors POLR2H HGNC ENSG00000163882 16 15 48.39 49 0 0.00 POLR2J3 548644 genome.wustl.edu 37 7 102212863 102212863 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102212863 102212863 G A SNP POLR2J3 ENST00000504157 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J3 HGNC ENSG00000168255 216 35 13.62 208 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 43982844 43982844 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 43982844 43982844 C T SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors POLR2J4 HGNC ENSG00000214783 39 12 23.53 34 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 43991565 43991565 + RNA SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 43991565 43991565 A G SNP POLR2J4 ENST00000454572 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors POLR2J4 HGNC ENSG00000214783 61 9 12.86 34 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 43992117 43992117 + RNA SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 43992117 43992117 C T SNP POLR2J4 ENST00000454572 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J4 HGNC ENSG00000214783 34 14 29.17 42 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 44009353 44009353 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 44009353 44009353 G A SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.965 - - - no_errors POLR2J4 HGNC ENSG00000214783 51 32 38.55 104 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 44009379 44009379 + RNA SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 44009379 44009379 C T SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.299 - - - no_errors POLR2J4 HGNC ENSG00000214783 8 7 43.75 9 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 44012259 44012259 + RNA SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 44012259 44012259 T A SNP POLR2J4 ENST00000422304 human ensembl 70_37 -1 known rna NULL NULL 0.855 - - - no_errors POLR2J4 HGNC ENSG00000214783 145 31 17.61 179 0 0.00 POLR2J4 84820 genome.wustl.edu 37 7 44056119 44056119 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 44056119 44056119 G A SNP POLR2J4 ENST00000326391 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors POLR2J4 HGNC ENSG00000214783 85 39 31.45 101 0 0.00 POLR2L 5441 genome.wustl.edu 37 11 842418 842418 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 842418 842418 C G SNP POLR2L ENST00000322028 human ensembl 70_37 -1 known missense c.91 p.E31Q 0.989 pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10 pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10 - no_errors POLR2L HGNC ENSG00000177700 24 20 45.45 40 0 0.00 POLR2M 81488 genome.wustl.edu 37 15 57999317 57999317 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 57999317 57999317 G A SNP POLR2M ENST00000464308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2M HGNC ENSG00000255529 30 8 21.05 64 0 0.00 POLR2M 81488 genome.wustl.edu 37 15 58027768 58027768 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 58027768 58027768 C T SNP POLR2M ENST00000380563 human ensembl 70_37 +1 known missense c.1067 p.S356F 0.192 NULL NULL - no_errors POLR2M HGNC ENSG00000255529 16 11 40.74 40 0 0.00 POLR3A 11128 genome.wustl.edu 37 10 79773485 79773485 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 79773485 79773485 C T SNP POLR3A ENST00000372371 human ensembl 70_37 -1 known missense c.1495 p.D499N 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 15 8 34.78 34 0 0.00 POLR3B 55703 genome.wustl.edu 37 12 106773811 106773811 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 106773811 106773811 C G SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.617 p.S206C 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 42 11 20.37 57 0 0.00 POLR3B 55703 genome.wustl.edu 37 12 106820975 106820975 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 106820975 106820975 C T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.1102 p.L368F 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 8 7 46.67 9 0 0.00 POLR3B 55703 genome.wustl.edu 37 12 106830853 106830853 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 106830853 106830853 G T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.1800 p.K600N 1.000 pfam_RNA_pol_Rpb2_4 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 14 17 54.84 50 0 0.00 POLR3B 55703 genome.wustl.edu 37 12 106853091 106853091 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 106853091 106853091 C T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.2515 p.P839S 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 85 26 23.42 119 0 0.00 POLR3C 10623 genome.wustl.edu 37 1 145592732 145592732 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 145592732 145592732 G A SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known silent c.1563 p.F521 0.999 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 47 10 17.54 52 0 0.00 POLR3C 10623 genome.wustl.edu 37 1 145596999 145596999 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 145596999 145596999 C G SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 26 19 41.30 29 0 0.00 POLR3C 10623 genome.wustl.edu 37 1 145606277 145606277 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145606277 145606277 C G SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known missense c.676 p.E226Q 1.000 pfam_RNA_pol_III_Rpc82_C pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 31 32 50.79 69 0 0.00 POLR3D 661 genome.wustl.edu 37 8 22105764 22105764 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 22105764 22105764 G C SNP POLR3D ENST00000397802 human ensembl 70_37 +1 known missense c.459 p.Q153H 0.998 NULL pfam_RNA_pol_III_Rpc4 - no_errors POLR3D HGNC ENSG00000168495 9 22 70.97 39 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22334233 22334233 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 22334233 22334233 G T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1049 p.C350F 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 16 17 51.52 28 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22334233 22334233 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 22334233 22334233 G T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1049 p.C350F 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 8 7 46.67 17 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22337138 22337138 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 22337138 22337138 C T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known nonsense c.1405 p.Q469* 0.996 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 44 6 12.00 32 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22337179 22337179 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22337179 22337179 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1446 p.R482 0.992 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 47 31 39.74 101 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22337467 22337467 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22337467 22337467 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1734 p.L578 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 49 53 51.96 116 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22339866 22339866 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 22339866 22339866 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1902 p.Q634 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 47 12 20.34 31 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22339899 22339899 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 22339899 22339899 G C SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1935 p.M645I 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 26 6 18.75 24 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22343428 22343428 + Silent SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 22343428 22343428 C G SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1992 p.R664 0.998 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 31 25 44.64 34 0 0.00 POLR3E 55718 genome.wustl.edu 37 16 22343428 22343428 + Silent SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 22343428 22343428 C G SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1992 p.R664 0.998 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 95 55 36.18 158 0 0.00 POLR3F 10621 genome.wustl.edu 37 20 18448223 18448223 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 18448223 18448223 G A SNP POLR3F ENST00000462997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR3F HGNC ENSG00000132664 87 20 18.69 77 0 0.00 POLR3F 10621 genome.wustl.edu 37 20 18455810 18455810 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18455810 18455810 C G SNP POLR3F ENST00000377603 human ensembl 70_37 +1 known missense c.408 p.I136M 0.994 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC ENSG00000132664 45 16 26.23 34 0 0.00 POLR3F 10621 genome.wustl.edu 37 20 18455810 18455810 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18455810 18455810 C G SNP POLR3F ENST00000377603 human ensembl 70_37 +1 known missense c.408 p.I136M 0.994 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC ENSG00000132664 70 33 31.73 34 0 0.00 POLR3F 10621 genome.wustl.edu 37 20 18464304 18464304 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 20 18464304 18464304 C T SNP POLR3F ENST00000462997 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors POLR3F HGNC ENSG00000132664 47 27 36.49 44 0 0.00 POLR3G 10622 genome.wustl.edu 37 5 89781433 89781433 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 89781433 89781433 G C SNP POLR3G ENST00000399107 human ensembl 70_37 +1 known missense c.49 p.E17Q 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 58 7 10.77 70 0 0.00 POLR3G 10622 genome.wustl.edu 37 5 89802378 89802378 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 5 89802378 89802378 G A SNP POLR3G ENST00000399107 human ensembl 70_37 +1 known missense c.472 p.D158N 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 37 24 38.71 40 0 0.00 POLRMT 5442 genome.wustl.edu 37 19 617576 617576 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 617576 617576 C A SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.3620 p.C1207F 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 23 4 14.81 23 0 0.00 POLRMT 5442 genome.wustl.edu 37 19 621156 621156 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 621156 621156 G C SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.2587 p.L863V 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 68 10 12.82 86 0 0.00 POLRMT 5442 genome.wustl.edu 37 19 621725 621725 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 621725 621725 G A SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.2018 p.P673L 0.298 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 44 5 10.20 49 0 0.00 POLRMT 5442 genome.wustl.edu 37 19 622168 622168 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 622168 622168 G T SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.1877 p.S626Y 1.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 34 14 29.17 40 0 0.00 POLRMT 5442 genome.wustl.edu 37 19 630038 630038 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 630038 630038 C G SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.369 p.Q123H 0.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 90 20 18.18 168 0 0.00 POM121 9883 genome.wustl.edu 37 7 72413868 72413868 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 72413868 72413868 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known silent c.3336 p.G1112 0.823 NULL NULL - no_errors POM121 HGNC ENSG00000196313 19 8 29.63 21 0 0.00 POM121 9883 genome.wustl.edu 37 7 72413868 72413868 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 72413868 72413868 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known silent c.3336 p.G1112 0.823 NULL NULL - no_errors POM121 HGNC ENSG00000196313 34 8 19.05 34 0 0.00 POM121 9883 genome.wustl.edu 37 7 72416226 72416226 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 72416226 72416226 T G SNP POM121 ENST00000434423 human ensembl 70_37 +1 known missense c.3631 p.F1211V 0.992 NULL NULL - no_errors POM121 HGNC ENSG00000196313 33 11 25.00 77 0 0.00 POM121 9883 genome.wustl.edu 37 7 72416748 72416748 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 72416748 72416748 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known missense c.3725 p.R1242Q 1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 67 15 18.29 84 0 0.00 POM121C 100101267 genome.wustl.edu 37 7 75048104 75048104 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 75048104 75048104 C T SNP POM121C ENST00000257665 human ensembl 70_37 -1 known missense c.3665 p.R1222Q 1.000 NULL NULL - no_errors POM121C HGNC ENSG00000135213 23 4 14.81 49 0 0.00 POM121C 100101267 genome.wustl.edu 37 7 75050940 75050940 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 75050940 75050940 G A SNP POM121C ENST00000257665 human ensembl 70_37 -1 known silent c.3321 p.F1107 0.188 NULL NULL - no_errors POM121C HGNC ENSG00000135213 60 14 18.92 61 0 0.00 POM121L12 285877 genome.wustl.edu 37 7 53103693 53103693 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 53103693 53103693 G A SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known missense c.329 p.R110Q 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 9 9 50.00 25 0 0.00 POM121L12 285877 genome.wustl.edu 37 7 53103781 53103781 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 53103781 53103781 C T SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known silent c.417 p.I139 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 13 4 23.53 20 0 0.00 POM121L12 285877 genome.wustl.edu 37 7 53103854 53103854 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 53103854 53103854 C T SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 22 6 21.43 24 0 0.00 POM121L1P 25812 genome.wustl.edu 37 22 22985454 22985454 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 22985454 22985454 C T SNP POM121L1P ENST00000402027 human ensembl 70_37 -1 putative missense c.1103 p.G368D 0.995 NULL NULL - no_errors POM121L1P HGNC ENSG00000183169 164 40 19.51 256 0 0.00 POM121L2 94026 genome.wustl.edu 37 6 27279745 27279745 + Missense_Mutation SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 27279745 27279745 T C SNP POM121L2 ENST00000444565 human ensembl 70_37 -1 known missense c.205 p.T69A 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 88 14 13.73 78 0 0.00 POM121L4P 266697 genome.wustl.edu 37 22 21044423 21044423 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 21044423 21044423 C G SNP POM121L4P ENST00000412250 human ensembl 70_37 +1 known silent c.105 p.L35 0.000 NULL NULL - no_errors POM121L4P HGNC ENSG00000217261 66 42 38.89 64 0 0.00 POM121L9P 29774 genome.wustl.edu 37 22 24647929 24647929 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 24647929 24647929 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 15 16 51.61 21 0 0.00 POM121L9P 29774 genome.wustl.edu 37 22 24656996 24656996 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 24656996 24656996 C G SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors POM121L9P HGNC ENSG00000128262 95 16 14.41 93 0 0.00 POM121L9P 29774 genome.wustl.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 24659813 24659813 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors POM121L9P HGNC ENSG00000128262 62 7 10.14 82 0 0.00 POM121L9P 29774 genome.wustl.edu 37 22 24659933 24659933 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 24659933 24659933 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 31 5 13.89 21 0 0.00 POMC 5443 genome.wustl.edu 37 2 25384145 25384145 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 25384145 25384145 G A SNP POMC ENST00000264708 human ensembl 70_37 -1 known silent c.609 p.A203 0.153 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 26 12 31.58 28 0 0.00 POMC 5443 genome.wustl.edu 37 2 25384197 25384197 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 2 25384197 25384197 C T SNP POMC ENST00000264708 human ensembl 70_37 -1 known missense c.557 p.R186Q 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 37 5 11.90 40 0 0.00 POMC 5443 genome.wustl.edu 37 2 25387630 25387630 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 25387630 25387630 C T SNP POMC ENST00000264708 human ensembl 70_37 -1 known silent c.12 p.S4 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 40 12 23.08 33 0 0.00 POMC 5443 genome.wustl.edu 37 2 25387631 25387631 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25387631 25387631 G A SNP POMC ENST00000264708 human ensembl 70_37 -1 known missense c.11 p.S4L 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 19 8 29.63 34 0 0.00 POMGNT1 55624 genome.wustl.edu 37 1 46657736 46657736 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 46657736 46657736 C T SNP POMGNT1 ENST00000463030 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors POMGNT1 HGNC ENSG00000085998 47 52 52.53 89 0 0.00 POMGNT1 55624 genome.wustl.edu 37 1 46657887 46657887 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 46657887 46657887 A C SNP POMGNT1 ENST00000371986 human ensembl 70_37 -1 known missense c.1422 p.D474E 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 32 16 33.33 66 0 0.00 POMT1 10585 genome.wustl.edu 37 9 134379625 134379625 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 134379625 134379625 G A SNP POMT1 ENST00000372228 human ensembl 70_37 +1 known missense c.20 p.R7H 0.182 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 63 15 19.23 65 0 0.00 POMT1 10585 genome.wustl.edu 37 9 134386533 134386533 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 134386533 134386533 G C SNP POMT1 ENST00000485278 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 25 18 41.86 38 0 0.00 POMT1 10585 genome.wustl.edu 37 9 134397656 134397656 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134397656 134397656 C T SNP POMT1 ENST00000494883 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 7 6 42.86 10 0 0.00 POMT2 29954 genome.wustl.edu 37 14 77751885 77751885 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77751885 77751885 G A SNP POMT2 ENST00000261534 human ensembl 70_37 -1 known missense c.1423 p.R475C 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 27 11 28.95 52 0 0.00 POMZP3 22932 genome.wustl.edu 37 7 76239480 76239480 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76239480 76239480 C A SNP POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.488 - - - no_errors POMZP3 HGNC ENSG00000146707 76 11 12.64 82 0 0.00 POMZP3 22932 genome.wustl.edu 37 7 76239503 76239504 + RNA INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76239503 76239504 - C INS POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.808:0.777 - - - no_errors POMZP3 HGNC ENSG00000146707 90 12 11.76 111 0 0.00 POMZP3 22932 genome.wustl.edu 37 7 76239524 76239524 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 76239524 76239524 C A SNP POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.587 - - - no_errors POMZP3 HGNC ENSG00000146707 43 11 20.37 64 0 0.00 POMZP3 22932 genome.wustl.edu 37 7 76254879 76254879 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76254879 76254879 C T SNP POMZP3 ENST00000310842 human ensembl 70_37 -1 known missense c.187 p.E63K 0.877 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 14 58 80.56 136 0 0.00 PON1 5444 genome.wustl.edu 37 7 95025649 95025649 + Missense_Mutation SNP A A G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 95025649 95025649 A G SNP PON1 ENST00000542556 human ensembl 70_37 -1 known missense c.14 p.V5A 0.056 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 62 89 58.94 71 0 0.00 PON2 5445 genome.wustl.edu 37 7 95041658 95041658 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 95041658 95041658 G C SNP PON2 ENST00000536183 human ensembl 70_37 -1 known missense c.396 p.F132L 0.998 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 113 58 33.92 146 0 0.00 PON2 5445 genome.wustl.edu 37 7 95053833 95053833 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 95053833 95053833 C T SNP PON2 ENST00000536183 human ensembl 70_37 -1 known missense c.202 p.G68R 1.000 prints_Arylesterase pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 22 11 33.33 75 0 0.00 PON3 5446 genome.wustl.edu 37 7 95001495 95001495 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 95001495 95001495 G A SNP PON3 ENST00000265627 human ensembl 70_37 -1 known silent c.357 p.F119 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 89 53 37.32 79 0 0.00 PON3 5446 genome.wustl.edu 37 7 95001611 95001611 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 95001611 95001611 C T SNP PON3 ENST00000265627 human ensembl 70_37 -1 known missense c.241 p.E81K 0.149 prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 88 39 30.71 154 0 0.00 POP4 10775 genome.wustl.edu 37 19 30104848 30104848 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 30104848 30104848 C T SNP POP4 ENST00000585603 human ensembl 70_37 +1 known silent c.495 p.F165 1.000 pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 32 5 13.51 17 0 0.00 POPDC3 64208 genome.wustl.edu 37 6 105607617 105607617 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 105607617 105607617 G A SNP POPDC3 ENST00000254765 human ensembl 70_37 -1 known missense c.563 p.S188L 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 25 4 13.79 41 0 0.00 POPDC3 64208 genome.wustl.edu 37 6 105607618 105607618 + Missense_Mutation SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 105607618 105607618 A T SNP POPDC3 ENST00000254765 human ensembl 70_37 -1 known missense c.562 p.S188T 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 25 4 13.79 41 0 0.00 PORCN 64840 genome.wustl.edu 37 X 48369723 48369723 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48369723 48369723 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known silent c.177 p.G59 0.787 NULL pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 43 5 10.20 81 0 0.00 PORCN 64840 genome.wustl.edu 37 X 48371045 48371045 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48371045 48371045 T G SNP PORCN ENST00000326194 human ensembl 70_37 +1 known silent c.624 p.T208 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 16 6 27.27 41 0 0.00 PORCN 64840 genome.wustl.edu 37 X 48371091 48371091 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 48371091 48371091 G C SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.670 p.D224H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 61 17 21.79 82 0 0.00 PORCN 64840 genome.wustl.edu 37 X 48374454 48374454 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 48374454 48374454 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.1093 p.R365W 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 74 15 16.85 96 0 0.00 PORCN 64840 genome.wustl.edu 37 X 48374529 48374529 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 48374529 48374529 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.1168 p.R390C 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 79 12 13.04 76 0 0.00 POSTN 10631 genome.wustl.edu 37 13 38145528 38145528 + Silent SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 38145528 38145528 T C SNP POSTN ENST00000379747 human ensembl 70_37 -1 known silent c.2157 p.T719 0.002 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 50 34 40.48 59 0 0.00 POSTN 10631 genome.wustl.edu 37 13 38164624 38164624 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 38164624 38164624 C T SNP POSTN ENST00000379747 human ensembl 70_37 -1 known missense c.326 p.G109E 1.000 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 51 7 12.07 56 0 0.00 POSTN 10631 genome.wustl.edu 37 13 38171338 38171338 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 38171338 38171338 G T SNP POSTN ENST00000379747 human ensembl 70_37 -1 known silent c.201 p.S67 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 19 6 24.00 52 0 0.00 POT1 25913 genome.wustl.edu 37 7 124475408 124475408 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 124475408 124475408 C T SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.1430 p.R477K 0.745 NULL pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC ENSG00000128513 48 8 14.29 31 0 0.00 POT1 25913 genome.wustl.edu 37 7 124493039 124493039 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 124493039 124493039 C T SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.856 p.D286N 0.985 superfamily_NA-bd_OB-fold-like pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC ENSG00000128513 46 18 28.12 56 0 0.00 POT1 25913 genome.wustl.edu 37 7 124503594 124503594 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 124503594 124503594 G A SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.356 p.S119L 1.000 pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC ENSG00000128513 17 11 39.29 33 0 0.00 POTEA 340441 genome.wustl.edu 37 8 43152239 43152239 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 43152239 43152239 C T SNP POTEA ENST00000522175 human ensembl 70_37 +1 known rna NULL NULL 0.663 - - - no_errors POTEA HGNC ENSG00000188877 134 37 21.64 162 0 0.00 POTEA 340441 genome.wustl.edu 37 8 43173647 43173647 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 43173647 43173647 G C SNP POTEA ENST00000522175 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors POTEA HGNC ENSG00000188877 163 20 10.93 151 1 0.66 POTEC 388468 genome.wustl.edu 37 18 14511988 14511988 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 14511988 14511988 G A SNP POTEC ENST00000358970 human ensembl 70_37 -1 known missense c.1538 p.S513F 0.856 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 28 16 36.36 116 0 0.00 POTEC 388468 genome.wustl.edu 37 18 14534913 14534913 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 14534913 14534913 C G SNP POTEC ENST00000358970 human ensembl 70_37 -1 known missense c.904 p.D302H 0.015 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 91 11 10.78 116 0 0.00 POTEC 388468 genome.wustl.edu 37 18 14543280 14543280 + RNA SNP C C G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 18 14543280 14543280 C G SNP POTEC ENST00000389891 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors POTEC HGNC ENSG00000183206 17 6 26.09 26 0 0.00 POTED 317754 genome.wustl.edu 37 21 14982955 14982955 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 21 14982955 14982955 C T SNP POTED ENST00000299443 human ensembl 70_37 +1 known missense c.406 p.R136C 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 14 44 75.86 48 0 0.00 POTED 317754 genome.wustl.edu 37 21 15003385 15003385 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 15003385 15003385 G A SNP POTED ENST00000299443 human ensembl 70_37 +1 known missense c.1366 p.E456K 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 1 8 88.89 12 0 0.00 POTEE 445582 genome.wustl.edu 37 2 131976013 131976013 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 131976013 131976013 C T SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.38 p.S13F 0.054 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 91 61 40.13 181 0 0.00 POTEE 445582 genome.wustl.edu 37 2 131976213 131976213 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 131976213 131976213 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.238 p.V80M 0.001 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 121 46 27.38 118 0 0.00 POTEE 445582 genome.wustl.edu 37 2 131976377 131976377 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 131976377 131976377 C T SNP POTEE ENST00000356920 human ensembl 70_37 +1 known silent c.402 p.H134 0.007 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 126 31 19.75 206 0 0.00 POTEE 445582 genome.wustl.edu 37 2 131984449 131984449 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 131984449 131984449 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known silent c.864 p.V288 0.340 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 275 59 17.66 390 1 0.26 POTEE 445582 genome.wustl.edu 37 2 132021997 132021997 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 132021997 132021997 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.2969 p.R990H 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 47 10 17.54 37 0 0.00 POTEE 445582 genome.wustl.edu 37 2 132022031 132022031 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 132022031 132022031 C T SNP POTEE ENST00000356920 human ensembl 70_37 +1 known silent c.3003 p.G1001 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename ENSG00000188219 15 7 31.82 9 0 0.00 POTEF 728378 genome.wustl.edu 37 2 130832389 130832389 + Missense_Mutation SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 2 130832389 130832389 G T SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.2656 p.P886T 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC ENSG00000196604 16 10 38.46 8 0 0.00 POTEF 728378 genome.wustl.edu 37 2 130877709 130877709 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 130877709 130877709 G A SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.380 p.A127V 0.000 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC ENSG00000196604 46 20 30.30 12 0 0.00 POTEF 728378 genome.wustl.edu 37 2 130877734 130877734 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 130877734 130877734 C T SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.355 p.A119T 0.001 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC ENSG00000196604 116 24 17.14 127 0 0.00 POTEF 728378 genome.wustl.edu 37 2 130877823 130877823 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 130877823 130877823 G C SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.266 p.S89C 0.005 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC ENSG00000196604 99 33 24.81 134 0 0.00 POTEF 728378 genome.wustl.edu 37 2 130877956 130877956 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 130877956 130877956 T C SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.133 p.T45A 0.022 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC ENSG00000196604 168 22 11.52 252 0 0.00 POTEG 404785 genome.wustl.edu 37 14 19553485 19553485 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 19553485 19553485 G C SNP POTEG ENST00000409832 human ensembl 70_37 +1 known missense c.69 p.K23N 0.009 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 324 37 10.19 365 0 0.00 POTEH 23784 genome.wustl.edu 37 22 16287382 16287382 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 16287382 16287382 C T SNP POTEH ENST00000343518 human ensembl 70_37 -1 known silent c.504 p.P168 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 213 43 16.80 209 0 0.00 POTEH 23784 genome.wustl.edu 37 22 16287509 16287509 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 16287509 16287509 G C SNP POTEH ENST00000343518 human ensembl 70_37 -1 known missense c.377 p.S126C 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 127 21 14.19 104 0 0.00 POTEH 23784 genome.wustl.edu 37 22 16287817 16287817 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 16287817 16287817 C T SNP POTEH ENST00000343518 human ensembl 70_37 -1 known silent c.69 p.K23 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 97 43 30.71 233 1 0.43 POTEI 653269 genome.wustl.edu 37 2 131221222 131221222 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 131221222 131221222 C T SNP POTEI ENST00000451531 human ensembl 70_37 -1 novel missense c.2395 p.E799K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEI HGNC ENSG00000196834 52 28 35.00 84 0 0.00 POTEJ 653781 genome.wustl.edu 37 2 131415303 131415303 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 131415303 131415303 C T SNP POTEJ ENST00000409602 human ensembl 70_37 +1 novel silent c.2970 p.I990 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC ENSG00000222038 18 10 35.71 13 0 0.00 POTEM 641455 genome.wustl.edu 37 14 20002266 20002266 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 20002266 20002266 C T SNP POTEM ENST00000547848 human ensembl 70_37 -1 known missense c.1156 p.E386K 0.152 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 133 30 18.40 244 0 0.00 POTEM 641455 genome.wustl.edu 37 14 20020102 20020102 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 20020102 20020102 T C SNP POTEM ENST00000547848 human ensembl 70_37 -1 known missense c.119 p.K40R 0.137 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 255 33 11.38 396 0 0.00 POU1F1 5449 genome.wustl.edu 37 3 87313556 87313556 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 87313556 87313556 G C SNP POU1F1 ENST00000344265 human ensembl 70_37 -1 known missense c.399 p.F133L 0.998 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC ENSG00000064835 47 11 18.97 44 0 0.00 POU2AF1 5450 genome.wustl.edu 37 11 111249962 111249962 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 111249962 111249962 G A SNP POU2AF1 ENST00000526535 human ensembl 70_37 -1 putative rna NULL NULL 0.864 - - - no_errors POU2AF1 HGNC ENSG00000110777 11 5 31.25 21 0 0.00 POU2F1 5451 genome.wustl.edu 37 1 167190159 167190159 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 167190159 167190159 C G SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known missense c.25 p.Q9E 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 37 24 39.34 84 0 0.00 POU2F1 5451 genome.wustl.edu 37 1 167190159 167190159 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 167190159 167190159 C T SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known nonsense c.25 p.Q9* 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 29 17 36.96 19 0 0.00 POU2F1 5451 genome.wustl.edu 37 1 167301706 167301706 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167301706 167301706 G C SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known splice_site c.62-1 e2-1 1.000 - - - no_errors POU2F1 HGNC ENSG00000143190 69 22 24.18 77 0 0.00 POU2F2 5452 genome.wustl.edu 37 19 42595605 42595605 + Missense_Mutation SNP A A T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 19 42595605 42595605 A T SNP POU2F2 ENST00000342301 human ensembl 70_37 -1 known missense c.1613 p.L538Q 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 37 12 24.49 56 0 0.00 POU2F2 5452 genome.wustl.edu 37 19 42595860 42595860 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42595860 42595860 C G SNP POU2F2 ENST00000560804 human ensembl 70_37 -1 putative missense c.1615 p.D539H 0.069 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 11 7 38.89 15 0 0.00 POU2F2 5452 genome.wustl.edu 37 19 42600013 42600013 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 42600013 42600013 G A SNP POU2F2 ENST00000342301 human ensembl 70_37 -1 known silent c.732 p.F244 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 68 11 13.92 70 0 0.00 POU2F3 25833 genome.wustl.edu 37 11 120111078 120111078 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120111078 120111078 C G SNP POU2F3 ENST00000260264 human ensembl 70_37 +1 known missense c.26 p.T9R 0.999 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 42 48 52.17 64 0 0.00 POU2F3 25833 genome.wustl.edu 37 11 120176482 120176482 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120176482 120176482 C T SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.763 p.L255 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 25 11 30.56 84 0 0.00 POU2F3 25833 genome.wustl.edu 37 11 120186099 120186099 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 120186099 120186099 C G SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.1104 p.L368 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 36 39 52.00 72 0 0.00 POU2F3 25833 genome.wustl.edu 37 11 120186099 120186099 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 11 120186099 120186099 C G SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.1104 p.L368 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 39 15 27.78 41 0 0.00 POU3F1 5453 genome.wustl.edu 37 1 38511656 38511656 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 38511656 38511656 C T SNP POU3F1 ENST00000373012 human ensembl 70_37 -1 known missense c.760 p.D254N 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 19 15 44.12 34 0 0.00 POU3F2 5454 genome.wustl.edu 37 6 99283888 99283888 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 99283888 99283888 C A SNP POU3F2 ENST00000328345 human ensembl 70_37 +1 known nonsense c.1139 p.S380* 1.000 pirsf_Transcription_factor_POU,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F2 HGNC ENSG00000184486 23 58 71.60 82 0 0.00 POU3F3 5455 genome.wustl.edu 37 2 105473121 105473121 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 105473121 105473121 G C SNP POU3F3 ENST00000361360 human ensembl 70_37 +1 known missense c.1153 p.E385Q 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,prints_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F3 HGNC ENSG00000198914 45 25 35.71 57 0 0.00 POU3F3 5455 genome.wustl.edu 37 2 105473394 105473394 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 105473394 105473394 G A SNP POU3F3 ENST00000361360 human ensembl 70_37 +1 known missense c.1426 p.D476N 1.000 superfamily_Homeodomain-like,pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F3 HGNC ENSG00000198914 15 16 51.61 23 0 0.00 POU3F4 5456 genome.wustl.edu 37 X 82763444 82763444 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 82763444 82763444 C A SNP POU3F4 ENST00000373200 human ensembl 70_37 +1 known missense c.112 p.L38I 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 36 11 22.92 50 0 0.00 POU4F2 5458 genome.wustl.edu 37 4 147560396 147560396 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 147560396 147560396 G T SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.104 p.G35V 0.994 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 7 4 36.36 12 0 0.00 POU4F2 5458 genome.wustl.edu 37 4 147560492 147560492 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 147560492 147560492 G A SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.200 p.G67E 0.974 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 5 4 44.44 22 0 0.00 POU4F2 5458 genome.wustl.edu 37 4 147561325 147561325 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 147561325 147561325 G A SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.595 p.G199R 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 23 17 42.50 33 0 0.00 POU4F3 5459 genome.wustl.edu 37 5 145718752 145718752 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 145718752 145718752 C G SNP POU4F3 ENST00000230732 human ensembl 70_37 +1 known missense c.77 p.S26C 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 79 9 10.23 39 0 0.00 POU4F3 5459 genome.wustl.edu 37 5 145719265 145719265 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 145719265 145719265 C T SNP POU4F3 ENST00000230732 human ensembl 70_37 +1 known missense c.275 p.S92L 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 10 6 37.50 44 0 0.00 POU5F1 5460 genome.wustl.edu 37 6 31138112 31138112 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31138112 31138112 C T SNP POU5F1 ENST00000259915 human ensembl 70_37 -1 known missense c.286 p.E96K 0.798 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 79 43 35.25 104 0 0.00 POU5F1B 5462 genome.wustl.edu 37 8 128428403 128428403 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 128428403 128428403 G A SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.292 p.E98K 0.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 75 12 13.79 107 0 0.00 POU5F1B 5462 genome.wustl.edu 37 8 128429025 128429025 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 128429025 128429025 C T SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.914 p.S305L 0.966 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 11 4 26.67 21 0 0.00 POU5F1B 5462 genome.wustl.edu 37 8 128429025 128429025 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 128429025 128429025 C T SNP POU5F1B ENST00000391675 human ensembl 70_37 +1 known missense c.914 p.S305L 0.966 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 38 11 22.45 22 0 0.00 POU5F2 134187 genome.wustl.edu 37 5 93076346 93076346 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 93076346 93076346 G C SNP POU5F2 ENST00000510627 human ensembl 70_37 -1 known silent c.924 p.L308 0.001 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 43 5 10.42 33 0 0.00 POU5F2 134187 genome.wustl.edu 37 5 93077198 93077198 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 93077198 93077198 C T SNP POU5F2 ENST00000510627 human ensembl 70_37 -1 known silent c.72 p.P24 0.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 6 6 50.00 21 0 0.00 POU6F2 11281 genome.wustl.edu 37 7 39446223 39446223 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 39446223 39446223 C T SNP POU6F2 ENST00000403058 human ensembl 70_37 +1 known nonsense c.910 p.Q304* 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 47 16 25.40 51 0 0.00 POU6F2 11281 genome.wustl.edu 37 7 39472873 39472873 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 39472873 39472873 C T SNP POU6F2 ENST00000403058 human ensembl 70_37 +1 known silent c.1224 p.P408 0.991 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 14 8 36.36 35 0 0.00 PP2D1 151649 genome.wustl.edu 37 3 20027557 20027557 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 20027557 20027557 G C SNP PP2D1 ENST00000389050 human ensembl 70_37 -1 known nonsense c.1208 p.S403* 0.059 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PP2D1 HGNC ENSG00000183977 13 10 43.48 60 0 0.00 PP2D1 151649 genome.wustl.edu 37 3 20043508 20043508 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 20043508 20043508 C A SNP PP2D1 ENST00000389050 human ensembl 70_37 -1 known missense c.104 p.R35I 0.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PP2D1 HGNC ENSG00000183977 43 24 35.82 107 0 0.00 PPAN-P2RY11 692312 genome.wustl.edu 37 19 10220911 10220911 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10220911 10220911 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 70_37 +1 known missense c.811 p.R271W 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 25 5 16.67 31 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 56962088 56962089 + RNA INS - - T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 56962088 56962089 - T INS PPAP2B ENST00000472957 human ensembl 70_37 -1 known rna NULL NULL 0.354:0.869 - - - no_errors PPAP2B HGNC ENSG00000162407 18 3 14.29 21 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 56977718 56977718 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 56977718 56977718 G C SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known nonsense c.740 p.S247* 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 42 23 35.38 48 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 56989993 56989993 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 56989993 56989993 C G SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.531 p.Q177H 0.995 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 57 23 28.75 55 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 56990047 56990047 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 56990047 56990047 C A SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.477 p.L159F 0.995 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 141 19 11.88 109 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 56990200 56990200 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 56990200 56990200 G C SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.324 p.I108M 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 16 5 23.81 10 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 57002687 57002687 + Silent SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 57002687 57002687 A G SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known silent c.237 p.T79 0.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 90 31 25.41 69 0 0.00 PPAP2B 8613 genome.wustl.edu 37 1 57044973 57044973 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 57044973 57044973 G C SNP PPAP2B ENST00000476206 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors PPAP2B HGNC ENSG00000162407 30 24 44.44 75 0 0.00 PPAPDC1A 196051 genome.wustl.edu 37 10 122348880 122348880 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 122348880 122348880 C A SNP PPAPDC1A ENST00000398250 human ensembl 70_37 +1 known missense c.682 p.P228T 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC ENSG00000203805 35 23 39.66 107 0 0.00 PPAPDC1B 84513 genome.wustl.edu 37 8 38124784 38124784 + Splice_Site SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 38124784 38124784 C T SNP PPAPDC1B ENST00000424479 human ensembl 70_37 -1 known splice_site c.463+1 e5+1 1.000 - - - no_errors PPAPDC1B HGNC ENSG00000147535 47 9 16.07 36 0 0.00 PPAPDC1B 84513 genome.wustl.edu 37 8 38124784 38124784 + Splice_Site SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 38124784 38124784 C T SNP PPAPDC1B ENST00000424479 human ensembl 70_37 -1 known splice_site c.463+1 e5+1 1.000 - - - no_errors PPAPDC1B HGNC ENSG00000147535 96 22 18.49 85 0 0.00 PPAPDC1B 84513 genome.wustl.edu 37 8 38126363 38126363 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38126363 38126363 C T SNP PPAPDC1B ENST00000527793 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPAPDC1B HGNC ENSG00000147535 35 27 43.55 57 0 0.00 PPAPDC2 403313 genome.wustl.edu 37 9 4663041 4663041 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4663041 4663041 G C SNP PPAPDC2 ENST00000381883 human ensembl 70_37 +1 known silent c.666 p.S222 0.003 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC2 HGNC ENSG00000205808 68 32 32.00 62 0 0.00 PPARA 5465 genome.wustl.edu 37 22 46631032 46631032 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 46631032 46631032 C T SNP PPARA ENST00000262735 human ensembl 70_37 +1 known missense c.1162 p.R388C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 39 18 31.58 56 0 0.00 PPARD 5467 genome.wustl.edu 37 6 35391729 35391729 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 35391729 35391729 G A SNP PPARD ENST00000311565 human ensembl 70_37 +1 known missense c.431 p.R144H 1.000 prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC ENSG00000112033 27 6 18.18 44 0 0.00 PPARD 5467 genome.wustl.edu 37 6 35392162 35392162 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 35392162 35392162 G C SNP PPARD ENST00000311565 human ensembl 70_37 +1 known missense c.684 p.W228C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt_B,prints_1Cnucl_rcpt_A pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC ENSG00000112033 17 20 54.05 39 0 0.00 PPARD 5467 genome.wustl.edu 37 6 35393787 35393787 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 35393787 35393787 G T SNP PPARD ENST00000311565 human ensembl 70_37 +1 known silent c.1257 p.R419 0.975 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC ENSG00000112033 23 3 11.54 40 0 0.00 PPARG 5468 genome.wustl.edu 37 3 12421301 12421301 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 12421301 12421301 G C SNP PPARG ENST00000287820 human ensembl 70_37 +1 known missense c.181 p.D61H 1.000 prints_1Cnucl_rcpt_G pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 31 5 13.89 41 0 0.00 PPARG 5468 genome.wustl.edu 37 3 12458466 12458466 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 12458466 12458466 G A SNP PPARG ENST00000287820 human ensembl 70_37 +1 known silent c.1083 p.L361 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 18 12 40.00 27 0 0.00 PPARGC1A 10891 genome.wustl.edu 37 4 23830116 23830116 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 23830116 23830116 G A SNP PPARGC1A ENST00000264867 human ensembl 70_37 -1 known missense c.664 p.H222Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 18 30 62.50 156 0 0.00 PPARGC1B 133522 genome.wustl.edu 37 5 149206428 149206428 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149206428 149206428 G A SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 29 14 32.56 37 0 0.00 PPARGC1B 133522 genome.wustl.edu 37 5 149212372 149212372 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 149212372 149212372 G A SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known missense c.736 p.E246K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 7 4 36.36 22 0 0.00 PPARGC1B 133522 genome.wustl.edu 37 5 149215909 149215909 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149215909 149215909 G T SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known nonsense c.1891 p.E631* 0.600 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 22 15 40.54 61 0 0.00 PPAT 5471 genome.wustl.edu 37 4 57273828 57273828 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 57273828 57273828 G C SNP PPAT ENST00000264220 human ensembl 70_37 -1 known missense c.183 p.F61L 0.992 pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 45 13 22.41 94 0 0.00 PPBP 5473 genome.wustl.edu 37 4 74853301 74853301 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 74853301 74853301 G A SNP PPBP ENST00000296028 human ensembl 70_37 -1 known missense c.217 p.H73Y 0.007 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors PPBP HGNC ENSG00000163736 49 20 28.99 64 0 0.00 PPCDC 60490 genome.wustl.edu 37 15 75335866 75335866 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 75335866 75335866 G A SNP PPCDC ENST00000342932 human ensembl 70_37 +1 known missense c.220 p.D74N 1.000 pfam_Flavoprotein,superfamily_Flavoprotein pfam_Flavoprotein,superfamily_Flavoprotein - no_errors PPCDC HGNC ENSG00000138621 22 5 18.52 28 0 0.00 PPCS 79717 genome.wustl.edu 37 1 42922779 42922779 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 42922779 42922779 G C SNP PPCS ENST00000472013 human ensembl 70_37 +1 known rna NULL NULL 0.234 - - - no_errors PPCS HGNC ENSG00000127125 62 43 40.95 66 0 0.00 PPEF1 5475 genome.wustl.edu 37 X 18748335 18748335 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 18748335 18748335 G A SNP PPEF1 ENST00000361511 human ensembl 70_37 +1 known missense c.83 p.R28Q 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_IQ_motif_EF-hand-BS pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 169 19 10.11 180 0 0.00 PPEF1 5475 genome.wustl.edu 37 X 18800495 18800495 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 X 18800495 18800495 C T SNP PPEF1 ENST00000361511 human ensembl 70_37 +1 known missense c.737 p.T246M 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 21 9 30.00 49 0 0.00 PPEF1 5475 genome.wustl.edu 37 X 18845465 18845465 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18845465 18845465 G C SNP PPEF1 ENST00000361511 human ensembl 70_37 +1 known missense c.1822 p.D608H 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2 pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 82 33 28.70 84 0 0.00 PPEF2 5470 genome.wustl.edu 37 4 76793176 76793176 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 76793176 76793176 G A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known splice_site c.1649+2 e12+2 1.000 - - - no_errors PPEF2 HGNC ENSG00000156194 40 6 12.77 42 0 0.00 PPEF2 5470 genome.wustl.edu 37 4 76794424 76794424 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 76794424 76794424 G A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known silent c.1362 p.G454 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF2 HGNC ENSG00000156194 37 16 30.19 63 0 0.00 PPEF2 5470 genome.wustl.edu 37 4 76797520 76797520 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 76797520 76797520 C A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known nonsense c.1240 p.E414* 0.016 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF2 HGNC ENSG00000156194 10 18 64.29 47 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70171018 70171018 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 70171018 70171018 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.432 p.V144 0.998 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 18 7 28.00 20 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70183532 70183532 + Missense_Mutation SNP A A G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 70183532 70183532 A G SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.1490 p.K497R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 66 19 22.35 77 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70194459 70194459 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 70194459 70194459 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.2096 p.R699H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 20 13 39.39 48 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70221172 70221172 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 70221172 70221172 G T SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.3288 p.L1096 0.001 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 32 4 11.11 41 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70222679 70222679 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 70222679 70222679 C T SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.3357 p.V1119 0.994 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 134 46 25.56 111 0 0.00 PPFIA1 8500 genome.wustl.edu 37 11 70222689 70222689 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 70222689 70222689 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.3367 p.D1123N 1.000 superfamily_SAM/pointed pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 61 34 35.79 65 0 0.00 PPFIA2 8499 genome.wustl.edu 37 12 81741424 81741424 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 81741424 81741424 G A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.2120 p.S707F 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 47 17 26.56 47 0 0.00 PPFIA2 8499 genome.wustl.edu 37 12 81746991 81746991 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 81746991 81746991 G A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.1901 p.S634L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 59 33 35.48 121 0 0.00 PPFIA2 8499 genome.wustl.edu 37 12 81747087 81747087 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 81747087 81747087 C A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.1805 p.R602I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 32 22 40.74 66 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49632266 49632266 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 49632266 49632266 G C SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.504 p.E168D 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 31 8 20.51 41 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49632647 49632647 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 49632647 49632647 G T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.518 p.R173L 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 30 26 46.43 70 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49632669 49632669 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49632669 49632669 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.540 p.R180 0.699 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 62 16 20.51 71 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49637098 49637098 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49637098 49637098 G C SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.1207 p.E403Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 65 29 30.85 75 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49652821 49652821 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49652821 49652821 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.3372 p.F1124 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 35 23 39.66 26 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49652821 49652821 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49652821 49652821 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.3372 p.F1124 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 49 25 33.78 23 0 0.00 PPFIA3 8541 genome.wustl.edu 37 19 49652868 49652868 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49652868 49652868 G A SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.3419 p.R1140Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 54 9 14.29 37 0 0.00 PPFIA4 8497 genome.wustl.edu 37 1 203008214 203008214 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 203008214 203008214 C T SNP PPFIA4 ENST00000367240 human ensembl 70_37 +1 novel silent c.78 p.F26 0.974 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 65 8 10.96 29 0 0.00 PPFIBP1 8496 genome.wustl.edu 37 12 27809592 27809592 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 27809592 27809592 C T SNP PPFIBP1 ENST00000318304 human ensembl 70_37 +1 known missense c.833 p.S278F 0.998 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 47 11 18.97 50 0 0.00 PPFIBP2 8495 genome.wustl.edu 37 11 7672960 7672960 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 7672960 7672960 G A SNP PPFIBP2 ENST00000299492 human ensembl 70_37 +1 known missense c.2321 p.R774K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 25 22 46.81 63 0 0.00 PPIAL4A 653505 genome.wustl.edu 37 1 147955236 147955236 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 147955236 147955236 G A SNP PPIAL4A ENST00000539781 human ensembl 70_37 -1 known missense c.109 p.R37C 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC ENSG00000255963 5 4 44.44 15 0 0.00 PPIAL4A 653505 genome.wustl.edu 37 1 147955334 147955334 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 147955334 147955334 G A SNP PPIAL4A ENST00000539781 human ensembl 70_37 -1 known missense c.11 p.S4F 0.996 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC ENSG00000255963 38 70 64.81 103 0 0.00 PPIAL4G 644591 genome.wustl.edu 37 1 143767596 143767596 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 143767596 143767596 C A SNP PPIAL4G ENST00000419275 human ensembl 70_37 -1 known missense c.253 p.D85Y 0.997 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4G HGNC ENSG00000236334 204 71 25.82 269 0 0.00 PPIB 5479 genome.wustl.edu 37 15 64454326 64454326 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 64454326 64454326 C A SNP PPIB ENST00000300026 human ensembl 70_37 -1 known nonsense c.163 p.E55* 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 49 14 22.22 36 0 0.00 PPID 5481 genome.wustl.edu 37 4 159631994 159631994 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 159631994 159631994 C G SNP PPID ENST00000307720 human ensembl 70_37 -1 known missense c.901 p.E301Q 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 26 14 35.00 27 0 0.00 PPID 5481 genome.wustl.edu 37 4 159634413 159634413 + Splice_Site SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 4 159634413 159634413 C T SNP PPID ENST00000307720 human ensembl 70_37 -1 known splice_site c.753-1 e7-1 1.000 - - - no_errors PPID HGNC ENSG00000171497 33 15 31.25 47 0 0.00 PPIE 10450 genome.wustl.edu 37 1 40204803 40204805 + RNA DEL CTT CTT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 40204803 40204805 CTT - DEL PPIE ENST00000480169 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PPIE HGNC ENSG00000084072 5 3 37.50 12 0 0.00 PPIG 9360 genome.wustl.edu 37 2 170488307 170488307 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170488307 170488307 G C SNP PPIG ENST00000260970 human ensembl 70_37 +1 known missense c.793 p.E265Q 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 125 33 20.89 178 0 0.00 PPIH 10465 genome.wustl.edu 37 1 43125213 43125213 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 43125213 43125213 G A SNP PPIH ENST00000304979 human ensembl 70_37 +1 known missense c.176 p.G59E 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIH HGNC ENSG00000171960 14 6 30.00 20 0 0.00 PPIL1 51645 genome.wustl.edu 37 6 36823502 36823503 + RNA INS - - A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 36823502 36823503 - A INS PPIL1 ENST00000483552 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PPIL1 HGNC ENSG00000137168 11 6 35.29 10 0 0.00 PPIL2 23759 genome.wustl.edu 37 22 22035640 22035640 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 22035640 22035640 C G SNP PPIL2 ENST00000412327 human ensembl 70_37 +1 known missense c.348 p.I116M 0.962 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 44 24 35.29 41 0 0.00 PPIL3 53938 genome.wustl.edu 37 2 201736079 201736079 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 201736079 201736079 C G SNP PPIL3 ENST00000465823 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PPIL3 HGNC ENSG00000240344 38 22 36.07 54 0 0.00 PPIL3 53938 genome.wustl.edu 37 2 201750451 201750451 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201750451 201750451 G T SNP PPIL3 ENST00000286175 human ensembl 70_37 -1 known silent c.48 p.V16 0.996 superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL3 HGNC ENSG00000240344 7 4 36.36 22 0 0.00 PPIL3 53938 genome.wustl.edu 37 2 201753716 201753716 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 201753716 201753716 A C SNP PPIL3 ENST00000409264 human ensembl 70_37 -1 putative missense c.23 p.F8C 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL3 HGNC ENSG00000240344 16 8 33.33 38 0 0.00 PPIL6 285755 genome.wustl.edu 37 6 109752404 109752404 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 109752404 109752404 C T SNP PPIL6 ENST00000521072 human ensembl 70_37 -1 known missense c.376 p.A126T 0.976 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 30 7 18.92 57 0 0.00 PPIP5K1 9677 genome.wustl.edu 37 15 43873496 43873496 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 43873496 43873496 C G SNP PPIP5K1 ENST00000420765 human ensembl 70_37 -1 known missense c.868 p.E290Q 1.000 NULL pfam_His_Pase_superF_clade-2,superfamily_MTCP1 - no_errors PPIP5K1 HGNC ENSG00000168781 408 63 13.35 380 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102484962 102484962 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 102484962 102484962 T G SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.851 p.V284G 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 23 7 23.33 42 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102490374 102490375 + Frame_Shift_Ins INS - - T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 102490374 102490375 - T INS PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known frame_shift_ins c.1218_1219 p.D408fs 0.992:1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 25 6 19.35 43 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102490381 102490381 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 102490381 102490381 G C SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.1225 p.D409H 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 35 10 22.22 48 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102491616 102491616 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 102491616 102491616 T C SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known silent c.1407 p.Y469 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 56 20 26.32 92 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102494886 102494886 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 102494886 102494886 C G SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.1774 p.L592V 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 24 13 35.14 35 0 0.00 PPIP5K2 23262 genome.wustl.edu 37 5 102515860 102515860 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 102515860 102515860 C T SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.2893 p.P965S 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 34 15 30.61 34 0 0.00 PPL 5493 genome.wustl.edu 37 16 4933425 4933425 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 4933425 4933425 G A SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.5231 p.S1744F 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 11 2 15.38 22 0 0.00 PPL 5493 genome.wustl.edu 37 16 4935649 4935649 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 4935649 4935649 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.3007 p.D1003H 0.997 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 33 11 25.00 38 0 0.00 PPL 5493 genome.wustl.edu 37 16 4936000 4936000 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 16 4936000 4936000 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2656 p.D886H 0.112 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 20 18 47.37 26 0 0.00 PPL 5493 genome.wustl.edu 37 16 4936024 4936024 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 4936024 4936024 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2632 p.E878Q 0.610 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 44 14 24.14 22 0 0.00 PPL 5493 genome.wustl.edu 37 16 4936024 4936024 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 4936024 4936024 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2632 p.E878Q 0.610 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 91 43 31.85 149 0 0.00 PPL 5493 genome.wustl.edu 37 16 4937187 4937187 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 4937187 4937187 G C SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2556 p.I852M 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 25 12 32.43 21 0 0.00 PPL 5493 genome.wustl.edu 37 16 4938172 4938172 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 4938172 4938172 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2445 p.E815D 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 39 66 62.86 97 0 0.00 PPL 5493 genome.wustl.edu 37 16 4942154 4942154 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 4942154 4942154 C T SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.1711 p.E571K 0.976 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 38 15 28.30 81 0 0.00 PPL 5493 genome.wustl.edu 37 16 4949362 4949362 + Missense_Mutation SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 4949362 4949362 C A SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.630 p.Q210H 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 51 22 30.14 44 0 0.00 PPL 5493 genome.wustl.edu 37 16 4960929 4960929 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 4960929 4960929 C T SNP PPL ENST00000345988 human ensembl 70_37 -1 known silent c.84 p.S28 0.977 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 87 32 26.45 39 0 0.00 PPL 5493 genome.wustl.edu 37 16 4987026 4987026 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 4987026 4987026 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.21 p.K7N 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 60 16 21.05 68 0 0.00 PPM1B 5495 genome.wustl.edu 37 2 44396048 44396048 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 44396048 44396048 G A SNP PPM1B ENST00000378540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC ENSG00000138032 43 44 50.57 85 0 0.00 PPM1B 5495 genome.wustl.edu 37 2 44396075 44396075 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 44396075 44396075 C T SNP PPM1B ENST00000378540 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PPM1B HGNC ENSG00000138032 109 20 15.50 104 0 0.00 PPM1B 5495 genome.wustl.edu 37 2 44428556 44428556 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 44428556 44428556 C T SNP PPM1B ENST00000282412 human ensembl 70_37 +1 known missense c.218 p.T73I 0.954 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1B HGNC ENSG00000138032 20 9 31.03 61 0 0.00 PPM1B 5495 genome.wustl.edu 37 2 44459672 44459672 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 44459672 44459672 C T SNP PPM1B ENST00000459690 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC ENSG00000138032 57 17 22.97 48 0 0.00 PPM1D 8493 genome.wustl.edu 37 17 58740432 58740432 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 58740432 58740432 C G SNP PPM1D ENST00000305921 human ensembl 70_37 +1 known nonsense c.1337 p.S446* 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 26 25 49.02 35 0 0.00 PPM1D 8493 genome.wustl.edu 37 17 58740887 58740887 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 58740887 58740887 C A SNP PPM1D ENST00000305921 human ensembl 70_37 +1 known missense c.1792 p.H598N 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 17 3 15.00 26 0 0.00 PPM1E 22843 genome.wustl.edu 37 17 56833491 56833491 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 56833491 56833491 T C SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.133 p.S45P 0.787 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 25 9 26.47 13 0 0.00 PPM1E 22843 genome.wustl.edu 37 17 56833497 56833497 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 56833497 56833497 C T SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.139 p.P47S 0.999 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 35 9 20.45 24 0 0.00 PPM1E 22843 genome.wustl.edu 37 17 57050206 57050206 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57050206 57050206 G C SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.1130 p.R377T 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 39 15 27.78 68 0 0.00 PPM1E 22843 genome.wustl.edu 37 17 57057649 57057649 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 57057649 57057649 C G SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.1525 p.Q509E 0.987 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 28 18 39.13 51 0 0.00 PPM1F 9647 genome.wustl.edu 37 22 22280022 22280022 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 22 22280022 22280022 C T SNP PPM1F ENST00000263212 human ensembl 70_37 -1 known missense c.905 p.R302H 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC ENSG00000100034 57 20 25.64 19 0 0.00 PPM1F 9647 genome.wustl.edu 37 22 22287817 22287817 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 22287817 22287817 G C SNP PPM1F ENST00000263212 human ensembl 70_37 -1 known silent c.693 p.L231 0.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC ENSG00000100034 26 16 38.10 58 0 0.00 PPM1G 5496 genome.wustl.edu 37 2 27607593 27607593 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27607593 27607593 C G SNP PPM1G ENST00000344034 human ensembl 70_37 -1 known missense c.772 p.E258Q 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1G HGNC ENSG00000115241 32 6 15.79 42 0 0.00 PPM1G 5496 genome.wustl.edu 37 2 27607771 27607771 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 27607771 27607771 T G SNP PPM1G ENST00000344034 human ensembl 70_37 -1 known missense c.594 p.E198D 0.993 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1G HGNC ENSG00000115241 43 15 25.86 62 0 0.00 PPM1J 333926 genome.wustl.edu 37 1 113256227 113256227 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 113256227 113256227 G C SNP PPM1J ENST00000309276 human ensembl 70_37 -1 known missense c.333 p.I111M 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1J HGNC ENSG00000155367 100 26 20.63 158 0 0.00 PPM1K 152926 genome.wustl.edu 37 4 89192227 89192227 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 89192227 89192227 G T SNP PPM1K ENST00000315194 human ensembl 70_37 -1 known missense c.656 p.S219Y 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like - no_errors PPM1K HGNC ENSG00000163644 16 5 23.81 20 0 0.00 PPM1M 132160 genome.wustl.edu 37 3 52280796 52280796 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52280796 52280796 G A SNP PPM1M ENST00000457351 human ensembl 70_37 +1 known missense c.310 p.E104K 0.066 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC ENSG00000164088 55 22 28.57 60 0 0.00 PPM1M 132160 genome.wustl.edu 37 3 52281193 52281193 + Frame_Shift_Del DEL C C - TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 52281193 52281193 C - DEL PPM1M ENST00000457351 human ensembl 70_37 +1 known frame_shift_del c.546 p.R183fs 0.812 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC ENSG00000164088 10 2 16.67 34 0 0.00 PPM1N 147699 genome.wustl.edu 37 19 46002355 46002355 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46002355 46002355 G C SNP PPM1N ENST00000451287 human ensembl 70_37 +1 known missense c.625 p.E209Q 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1N HGNC ENSG00000213889 26 8 23.53 41 0 0.00 PPM1N 147699 genome.wustl.edu 37 19 46003774 46003774 + Nonsense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 46003774 46003774 C G SNP PPM1N ENST00000451287 human ensembl 70_37 +1 known nonsense c.1118 p.S373* 0.988 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1N HGNC ENSG00000213889 28 11 28.21 26 0 0.00 PPME1 51400 genome.wustl.edu 37 11 73915461 73915461 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 73915461 73915461 C T SNP PPME1 ENST00000328257 human ensembl 70_37 +1 known missense c.259 p.H87Y 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 88 21 19.27 124 0 0.00 PPME1 51400 genome.wustl.edu 37 11 73915487 73915487 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 73915487 73915487 C A SNP PPME1 ENST00000328257 human ensembl 70_37 +1 known missense c.285 p.F95L 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 80 18 18.37 109 0 0.00 PPOX 5498 genome.wustl.edu 37 1 161139317 161139317 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 161139317 161139317 C T SNP PPOX ENST00000462977 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors PPOX HGNC ENSG00000143224 13 15 53.57 9 0 0.00 PPOX 5498 genome.wustl.edu 37 1 161139704 161139704 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 161139704 161139704 G T SNP PPOX ENST00000352210 human ensembl 70_37 +1 known nonsense c.877 p.E293* 0.273 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 72 27 27.27 98 0 0.00 PPOX 5498 genome.wustl.edu 37 1 161140467 161140467 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 161140467 161140467 C T SNP PPOX ENST00000352210 human ensembl 70_37 +1 known nonsense c.1156 p.Q386* 0.230 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 35 8 18.60 35 0 0.00 PPP1CA 5499 genome.wustl.edu 37 11 67168188 67168188 + Silent SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67168188 67168188 G T SNP PPP1CA ENST00000312989 human ensembl 70_37 -1 known silent c.423 p.I141 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 30 18 37.50 56 0 0.00 PPP1CA 5499 genome.wustl.edu 37 11 67168224 67168224 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67168224 67168224 G A SNP PPP1CA ENST00000312989 human ensembl 70_37 -1 known silent c.387 p.F129 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 38 12 24.00 58 0 0.00 PPP1CB 5500 genome.wustl.edu 37 2 29001749 29001749 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 29001749 29001749 C G SNP PPP1CB ENST00000296122 human ensembl 70_37 +1 known missense c.259 p.L87V 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC ENSG00000213639 21 12 36.36 43 0 0.00 PPP1CB 5500 genome.wustl.edu 37 2 29011673 29011673 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 29011673 29011673 C G SNP PPP1CB ENST00000296122 human ensembl 70_37 +1 known missense c.742 p.Q248E 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC ENSG00000213639 87 26 23.01 109 0 0.00 PPP1CC 5501 genome.wustl.edu 37 12 111160271 111160271 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111160271 111160271 C G SNP PPP1CC ENST00000551676 human ensembl 70_37 -1 putative missense c.753 p.L251F 1.000 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 12 7 36.84 20 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30571789 30571789 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30571789 30571789 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1504 p.E502K 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 19 12 38.71 19 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30571825 30571825 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30571825 30571825 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1468 p.E490Q 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 19 16 45.71 14 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30572132 30572132 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 30572132 30572132 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1259 p.R420Q 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 27 4 12.90 27 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30573980 30573980 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30573980 30573980 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.675 p.K225N 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 40 18 31.03 49 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30573986 30573986 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30573986 30573986 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known silent c.669 p.V223 0.999 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 75 26 25.74 72 0 0.00 PPP1R10 5514 genome.wustl.edu 37 6 30576637 30576637 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30576637 30576637 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.249 p.K83N 1.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 70 50 41.67 68 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80187678 80187678 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 80187678 80187678 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2614 p.D872H 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 43 17 28.33 63 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80191034 80191034 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 80191034 80191034 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2233 p.E745Q 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 59 19 24.36 55 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80191124 80191124 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 80191124 80191124 G A SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2143 p.R715C 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 18 15 45.45 62 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80192284 80192284 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 80192284 80192284 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2081 p.R694T 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 10 4 28.57 14 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80201041 80201042 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 80201041 80201042 - T INS PPP1R12A ENST00000261207 human ensembl 70_37 -1 known frame_shift_ins c.1620_1619 p.N540fs 1.000:1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 4 2 33.33 15 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80214673 80214673 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 80214673 80214673 G A SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.995 p.S332F 0.988 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 53 7 11.67 58 0 0.00 PPP1R12A 4659 genome.wustl.edu 37 12 80266643 80266643 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 80266643 80266643 C T SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 22 6 21.43 37 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202399874 202399874 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 202399874 202399874 G C SNP PPP1R12B ENST00000336894 human ensembl 70_37 +1 known missense c.937 p.E313Q 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 25 25 50.00 54 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 202407189 202407190 - T INS PPP1R12B ENST00000480184 human ensembl 70_37 +1 novel frame_shift_ins c.1495_1496 p.F503fs 0.085:0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 20 3 13.04 26 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202418211 202418211 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202418211 202418211 C T SNP PPP1R12B ENST00000336894 human ensembl 70_37 +1 known missense c.1762 p.L588F 0.181 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 59 17 22.37 55 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202471087 202471087 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 202471087 202471087 G T SNP PPP1R12B ENST00000466273 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PPP1R12B HGNC ENSG00000077157 136 92 40.35 355 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202471377 202471377 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 202471377 202471377 C G SNP PPP1R12B ENST00000498070 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R12B HGNC ENSG00000077157 7 5 41.67 9 0 0.00 PPP1R12B 4660 genome.wustl.edu 37 1 202550187 202550187 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 202550187 202550187 G C SNP PPP1R12B ENST00000290419 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R12B HGNC ENSG00000077157 62 32 34.04 95 0 0.00 PPP1R13B 23368 genome.wustl.edu 37 14 104219456 104219456 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 104219456 104219456 G A SNP PPP1R13B ENST00000202556 human ensembl 70_37 -1 known nonsense c.709 p.Q237* 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 46 9 16.36 69 0 0.00 PPP1R13B 23368 genome.wustl.edu 37 14 104224057 104224057 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 104224057 104224057 G C SNP PPP1R13B ENST00000202556 human ensembl 70_37 -1 known nonsense c.386 p.S129* 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 42 27 39.13 59 0 0.00 PPP1R13L 10848 genome.wustl.edu 37 19 45895174 45895174 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 45895174 45895174 C T SNP PPP1R13L ENST00000360957 human ensembl 70_37 -1 known silent c.1779 p.P593 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 56 31 35.63 34 0 0.00 PPP1R13L 10848 genome.wustl.edu 37 19 45895303 45895303 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45895303 45895303 G A SNP PPP1R13L ENST00000360957 human ensembl 70_37 -1 known silent c.1650 p.L550 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 26 25 49.02 53 0 0.00 PPP1R14A 94274 genome.wustl.edu 37 19 38742017 38742017 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 38742017 38742017 G T SNP PPP1R14A ENST00000301242 human ensembl 70_37 -1 known missense c.385 p.P129T 1.000 pfam_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC ENSG00000167641 28 10 26.32 18 0 0.00 PPP1R14B 26472 genome.wustl.edu 37 11 64012723 64012723 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64012723 64012723 C G SNP PPP1R14B ENST00000309318 human ensembl 70_37 -1 known missense c.295 p.E99Q 0.998 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 30 23 43.40 80 0 0.00 PPP1R14B 26472 genome.wustl.edu 37 11 64012732 64012732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64012732 64012732 C T SNP PPP1R14B ENST00000309318 human ensembl 70_37 -1 known missense c.286 p.D96N 0.997 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 31 21 40.38 78 0 0.00 PPP1R15A 23645 genome.wustl.edu 37 19 49377387 49377387 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 49377387 49377387 C G SNP PPP1R15A ENST00000200453 human ensembl 70_37 +1 known silent c.897 p.L299 0.000 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 35 7 16.67 30 0 0.00 PPP1R15A 23645 genome.wustl.edu 37 19 49377902 49377902 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 49377902 49377902 C T SNP PPP1R15A ENST00000200453 human ensembl 70_37 +1 known missense c.1412 p.S471F 0.005 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 52 16 23.53 52 0 0.00 PPP1R15B 84919 genome.wustl.edu 37 1 204380406 204380406 + Missense_Mutation SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 204380406 204380406 G C SNP PPP1R15B ENST00000367188 human ensembl 70_37 -1 known missense c.134 p.S45C 0.000 pfam_Prot_Pase1_reg-su15B_N pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 82 56 40.58 107 0 0.00 PPP1R16A 84988 genome.wustl.edu 37 8 145724337 145724337 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 145724337 145724337 C T SNP PPP1R16A ENST00000292539 human ensembl 70_37 +1 known silent c.369 p.L123 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 84 25 22.94 53 0 0.00 PPP1R16A 84988 genome.wustl.edu 37 8 145727029 145727029 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145727029 145727029 C G SNP PPP1R16A ENST00000292539 human ensembl 70_37 +1 known missense c.1330 p.P444A 0.044 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 89 30 25.00 81 0 0.00 PPP1R16B 26051 genome.wustl.edu 37 20 37531352 37531352 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 37531352 37531352 G A SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 30 17 36.17 48 0 0.00 PPP1R16B 26051 genome.wustl.edu 37 20 37536735 37536735 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 37536735 37536735 G C SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.1093 p.E365Q 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 99 13 11.50 115 0 0.00 PPP1R16B 26051 genome.wustl.edu 37 20 37536814 37536814 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 37536814 37536814 C A SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.1172 p.T391K 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 33 19 36.54 55 0 0.00 PPP1R17 10842 genome.wustl.edu 37 7 31736641 31736641 + Missense_Mutation SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 31736641 31736641 A G SNP PPP1R17 ENST00000342032 human ensembl 70_37 +1 known missense c.298 p.M100V 0.001 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 31 8 20.51 26 0 0.00 PPP1R17 10842 genome.wustl.edu 37 7 31746967 31746967 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 31746967 31746967 G A SNP PPP1R17 ENST00000498609 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors PPP1R17 HGNC ENSG00000106341 14 7 33.33 19 0 0.00 PPP1R1A 5502 genome.wustl.edu 37 12 54969542 54969542 + RNA SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 54969542 54969542 A G SNP PPP1R1A ENST00000547431 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PPP1R1A HGNC ENSG00000135447 9 7 43.75 10 0 0.00 PPP1R1A 5502 genome.wustl.edu 37 12 54975847 54975847 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 54975847 54975847 C T SNP PPP1R1A ENST00000257905 human ensembl 70_37 -1 known missense c.316 p.E106K 0.111 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 23 11 32.35 41 0 0.00 PPP1R1C 151242 genome.wustl.edu 37 2 182928496 182928496 + Silent SNP G G C TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 2 182928496 182928496 G C SNP PPP1R1C ENST00000409137 human ensembl 70_37 +1 known silent c.219 p.V73 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC ENSG00000150722 21 13 38.24 54 0 0.00 PPP1R21 129285 genome.wustl.edu 37 2 48718244 48718244 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 48718244 48718244 C G SNP PPP1R21 ENST00000294952 human ensembl 70_37 +1 known missense c.1534 p.L512V 0.981 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like - no_errors PPP1R21 HGNC ENSG00000162869 48 22 31.43 78 0 0.00 PPP1R21 129285 genome.wustl.edu 37 2 48725635 48725635 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 48725635 48725635 C T SNP PPP1R21 ENST00000294952 human ensembl 70_37 +1 known nonsense c.1696 p.Q566* 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like - no_errors PPP1R21 HGNC ENSG00000162869 52 11 17.46 65 0 0.00 PPP1R21 129285 genome.wustl.edu 37 2 48734366 48734366 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 48734366 48734366 C T SNP PPP1R21 ENST00000476199 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors PPP1R21 HGNC ENSG00000162869 25 8 24.24 46 0 0.00 PPP1R21 129285 genome.wustl.edu 37 2 48741940 48741940 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 48741940 48741940 C A SNP PPP1R21 ENST00000476199 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R21 HGNC ENSG00000162869 17 3 15.00 26 0 0.00 PPP1R26 9858 genome.wustl.edu 37 9 138377333 138377333 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 138377333 138377333 G A SNP PPP1R26 ENST00000356818 human ensembl 70_37 +1 known missense c.977 p.R326H 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 43 17 28.33 51 0 0.00 PPP1R26 9858 genome.wustl.edu 37 9 138379815 138379815 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 138379815 138379815 G C SNP PPP1R26 ENST00000356818 human ensembl 70_37 +1 known silent c.3459 p.L1153 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 17 8 32.00 26 0 0.00 PPP1R2P1 100507444 genome.wustl.edu 37 6 32847310 32847310 + RNA DEL C C - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32847310 32847310 C - DEL PPP1R2P1 ENST00000420261 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 122 23 15.86 195 0 0.00 PPP1R32 220004 genome.wustl.edu 37 11 61249366 61249366 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 61249366 61249366 G A SNP PPP1R32 ENST00000338608 human ensembl 70_37 +1 known missense c.85 p.A29T 0.979 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 47 10 17.54 75 0 0.00 PPP1R32 220004 genome.wustl.edu 37 11 61257393 61257393 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 61257393 61257393 C T SNP PPP1R32 ENST00000338608 human ensembl 70_37 +1 known missense c.1183 p.R395W 0.003 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 33 4 10.81 37 0 0.00 PPP1R37 284352 genome.wustl.edu 37 19 45645571 45645571 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 45645571 45645571 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.729 p.L243 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 23 13 36.11 46 0 0.00 PPP1R37 284352 genome.wustl.edu 37 19 45646855 45646855 + Silent SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 45646855 45646855 C G SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.951 p.L317 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 15 12 44.44 47 0 0.00 PPP1R37 284352 genome.wustl.edu 37 19 45648381 45648381 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45648381 45648381 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known missense c.1159 p.E387K 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 11 6 35.29 19 0 0.00 PPP1R37 284352 genome.wustl.edu 37 19 45648494 45648494 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 45648494 45648494 C T SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.1272 p.L424 0.003 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 18 9 33.33 28 0 0.00 PPP1R37 284352 genome.wustl.edu 37 19 45649049 45649049 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45649049 45649049 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known missense c.1735 p.E579K 0.989 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 9 6 40.00 8 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113517963 113517963 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 113517963 113517963 G C SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.3184 p.Q1062E 0.001 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 8 3 27.27 23 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113518156 113518156 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 113518156 113518156 G T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2991 p.F997L 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 20 16 44.44 38 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113518224 113518224 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 113518224 113518224 C A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known nonsense c.2923 p.E975* 0.250 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 14 3 17.65 35 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113518448 113518448 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 113518448 113518448 G A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2699 p.S900F 0.003 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 36 16 30.77 24 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113518481 113518481 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 113518481 113518481 G A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2666 p.S889L 0.477 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 24 6 20.00 23 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113518693 113518693 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 113518693 113518693 C T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known silent c.2454 p.E818 0.005 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 42 17 28.81 37 0 0.00 PPP1R3A 5506 genome.wustl.edu 37 7 113558804 113558804 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 113558804 113558804 C T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known nonsense c.248 p.W83* 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 119 24 16.78 171 0 0.00 PPP1R3F 89801 genome.wustl.edu 37 X 49142903 49142903 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49142903 49142903 C G SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known missense c.1751 p.S584C 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 16 21 56.76 44 0 0.00 PPP1R3F 89801 genome.wustl.edu 37 X 49143300 49143300 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 49143300 49143300 C G SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known silent c.2148 p.L716 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 33 7 17.50 31 0 0.00 PPP1R3F 89801 genome.wustl.edu 37 X 49143337 49143337 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 49143337 49143337 G A SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known missense c.2185 p.E729K 0.772 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 40 14 25.93 53 0 0.00 PPP1R3G 648791 genome.wustl.edu 37 6 5086746 5086746 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 5086746 5086746 G T SNP PPP1R3G ENST00000405617 human ensembl 70_37 +1 novel missense c.1027 p.A343S 0.275 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3G HGNC ENSG00000219607 23 3 11.54 16 0 0.00 PPP1R42 286187 genome.wustl.edu 37 8 67926753 67926753 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 67926753 67926753 C T SNP PPP1R42 ENST00000522909 human ensembl 70_37 -1 known silent c.204 p.L68 1.000 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 83 27 24.55 69 0 0.00 PPP1R7 5510 genome.wustl.edu 37 2 242092929 242092929 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 242092929 242092929 G A SNP PPP1R7 ENST00000234038 human ensembl 70_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 32 27 45.76 62 0 0.00 PPP1R8 5511 genome.wustl.edu 37 1 28165230 28165230 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28165230 28165230 G C SNP PPP1R8 ENST00000311772 human ensembl 70_37 +1 known missense c.138 p.K46N 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 80 20 19.80 56 0 0.00 PPP1R8 5511 genome.wustl.edu 37 1 28169737 28169737 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 28169737 28169737 C G SNP PPP1R8 ENST00000311772 human ensembl 70_37 +1 known missense c.533 p.S178C 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 131 31 19.14 170 0 0.00 PPP1R8 5511 genome.wustl.edu 37 1 28178052 28178052 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 28178052 28178052 C T SNP PPP1R8 ENST00000486634 human ensembl 70_37 +1 putative rna NULL NULL 0.050 - - - no_errors PPP1R8 HGNC ENSG00000117751 64 47 42.34 77 0 0.00 PPP1R9A 55607 genome.wustl.edu 37 7 94539853 94539853 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 94539853 94539853 G A SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.428 p.R143Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 13 3 18.75 22 0 0.00 PPP1R9A 55607 genome.wustl.edu 37 7 94540010 94540010 + Silent SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 94540010 94540010 T C SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known silent c.585 p.T195 0.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 23 4 14.81 38 0 0.00 PPP1R9A 55607 genome.wustl.edu 37 7 94540329 94540329 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 94540329 94540329 G T SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known nonsense c.904 p.E302* 0.973 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 24 17 41.46 41 0 0.00 PPP1R9A 55607 genome.wustl.edu 37 7 94740697 94740697 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 94740697 94740697 G C SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.1522 p.E508Q 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 90 29 24.37 110 0 0.00 PPP1R9A 55607 genome.wustl.edu 37 7 94855369 94855369 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 94855369 94855369 G A SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.1987 p.E663K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 21 8 27.59 23 0 0.00 PPP1R9B 84687 genome.wustl.edu 37 17 48211892 48211892 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 48211892 48211892 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 0.692 - - - no_errors PPP1R9B HGNC ENSG00000108819 4 11 73.33 20 0 0.00 PPP1R9B 84687 genome.wustl.edu 37 17 48211941 48211941 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 48211941 48211941 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 0.892 - - - no_errors PPP1R9B HGNC ENSG00000108819 6 19 76.00 29 0 0.00 PPP1R9B 84687 genome.wustl.edu 37 17 48221036 48221036 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48221036 48221036 C G SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC ENSG00000108819 61 13 17.57 62 0 0.00 PPP1R9B 84687 genome.wustl.edu 37 17 48222543 48222543 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48222543 48222543 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC ENSG00000108819 44 32 42.11 66 0 0.00 PPP1R9B 84687 genome.wustl.edu 37 17 48227731 48227731 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 48227731 48227731 C G SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC ENSG00000108819 39 24 38.10 60 0 0.00 PPP2CB 5516 genome.wustl.edu 37 8 30657146 30657146 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 30657146 30657146 C T SNP PPP2CB ENST00000221138 human ensembl 70_37 -1 known silent c.228 p.P76 0.994 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 95 44 31.65 114 0 0.00 PPP2R1A 5518 genome.wustl.edu 37 19 52714601 52714601 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 52714601 52714601 C T SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known missense c.359 p.S120L 0.999 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 107 51 32.28 147 0 0.00 PPP2R1A 5518 genome.wustl.edu 37 19 52723005 52723005 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 52723005 52723005 T A SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known missense c.1190 p.I397N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 92 14 13.21 101 0 0.00 PPP2R1A 5518 genome.wustl.edu 37 19 52723027 52723027 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 52723027 52723027 G C SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known silent c.1212 p.L404 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 36 11 23.40 42 0 0.00 PPP2R1B 5519 genome.wustl.edu 37 11 111635535 111635535 + Silent SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111635535 111635535 A G SNP PPP2R1B ENST00000311129 human ensembl 70_37 -1 known silent c.300 p.C100 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 10 16 61.54 61 0 0.00 PPP2R1B 5519 genome.wustl.edu 37 11 111635535 111635535 + Silent SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111635535 111635535 A G SNP PPP2R1B ENST00000311129 human ensembl 70_37 -1 known silent c.300 p.C100 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 20 18 47.37 30 0 0.00 PPP2R2A 5520 genome.wustl.edu 37 8 26217696 26217696 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 26217696 26217696 A C SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.358 p.K120Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 15 7 31.82 32 0 0.00 PPP2R2A 5520 genome.wustl.edu 37 8 26217714 26217714 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 26217714 26217714 G A SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.376 p.E126K 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 25 14 35.90 27 0 0.00 PPP2R2A 5520 genome.wustl.edu 37 8 26227787 26227787 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 26227787 26227787 G A SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.1202 p.G401D 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 14 3 17.65 27 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 145969475 145969475 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 145969475 145969475 C T SNP PPP2R2B ENST00000530902 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP2R2B HGNC ENSG00000156475 21 11 34.38 33 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 145969747 145969747 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145969747 145969747 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known silent c.1293 p.F431 0.995 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 10 8 44.44 41 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 145979889 145979889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 145979889 145979889 G C SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.1123 p.L375V 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 8 24 75.00 107 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 146070736 146070736 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 146070736 146070736 A C SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.600 p.D200E 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 19 36 65.45 66 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 146070742 146070742 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 146070742 146070742 C T SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known silent c.594 p.L198 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 18 35 66.04 63 0 0.00 PPP2R2B 5521 genome.wustl.edu 37 5 146257654 146257654 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 146257654 146257654 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.179 p.T60M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 36 8 18.18 41 0 0.00 PPP2R2C 5522 genome.wustl.edu 37 4 6325074 6325074 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 6325074 6325074 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.1299 p.N433K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 27 34 55.74 36 0 0.00 PPP2R2C 5522 genome.wustl.edu 37 4 6331054 6331054 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 6331054 6331054 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known silent c.987 p.L329 0.997 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 34 32 48.48 63 0 0.00 PPP2R2C 5522 genome.wustl.edu 37 4 6374374 6374374 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 6374374 6374374 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 50 10 16.67 32 0 0.00 PPP2R2C 5522 genome.wustl.edu 37 4 6382809 6382809 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 6382809 6382809 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.83 p.S28C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 65 60 48.00 111 0 0.00 PPP2R2D 55844 genome.wustl.edu 37 10 133757483 133757483 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 133757483 133757483 G C SNP PPP2R2D ENST00000455566 human ensembl 70_37 +1 known missense c.396 p.L132F 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 28 64 69.57 128 0 0.00 PPP2R2D 55844 genome.wustl.edu 37 10 133757608 133757608 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 133757608 133757608 G T SNP PPP2R2D ENST00000455566 human ensembl 70_37 +1 known missense c.521 p.R174I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 33 4 10.81 45 0 0.00 PPP2R2D 55844 genome.wustl.edu 37 10 133769261 133769261 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 10 133769261 133769261 G A SNP PPP2R2D ENST00000455566 human ensembl 70_37 +1 known missense c.1063 p.E355K 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 54 15 21.74 57 0 0.00 PPP2R3A 5523 genome.wustl.edu 37 3 135822161 135822161 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 135822161 135822161 C G SNP PPP2R3A ENST00000264977 human ensembl 70_37 +1 known missense c.3165 p.F1055L 1.000 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 37 13 26.00 48 0 0.00 PPP2R3B 28227 genome.wustl.edu 37 X 301537 301537 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 301537 301537 G A SNP PPP2R3B ENST00000390665 human ensembl 70_37 -1 known silent c.1314 p.L438 0.995 NULL pfscan_EF_HAND_2 - no_errors PPP2R3B HGNC ENSG00000167393 53 26 32.91 180 0 0.00 PPP2R4 5524 genome.wustl.edu 37 9 131882887 131882887 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131882887 131882887 C T SNP PPP2R4 ENST00000452489 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 71 44 38.26 114 0 0.00 PPP2R5A 5525 genome.wustl.edu 37 1 212502486 212502486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 212502486 212502486 C A SNP PPP2R5A ENST00000261461 human ensembl 70_37 +1 known nonsense c.191 p.S64* 1.000 pfam_PP2A_B56,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 12 9 42.86 46 0 0.00 PPP2R5B 5526 genome.wustl.edu 37 11 64693304 64693304 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 64693304 64693304 G A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known missense c.98 p.R33H 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 46 11 19.30 26 0 0.00 PPP2R5B 5526 genome.wustl.edu 37 11 64695769 64695769 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64695769 64695769 C A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known silent c.594 p.L198 0.986 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 22 16 42.11 45 0 0.00 PPP2R5B 5526 genome.wustl.edu 37 11 64698937 64698937 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 64698937 64698937 G A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known silent c.921 p.E307 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 29 20 40.82 55 0 0.00 PPP2R5C 5527 genome.wustl.edu 37 14 102368166 102368166 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 102368166 102368166 G A SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known silent c.1056 p.V352 0.998 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 59 7 10.61 70 0 0.00 PPP2R5C 5527 genome.wustl.edu 37 14 102372772 102372772 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 102372772 102372772 G C SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known missense c.1150 p.E384Q 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 34 18 34.62 50 0 0.00 PPP2R5C 5527 genome.wustl.edu 37 14 102391583 102391583 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 102391583 102391583 G A SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known missense c.1642 p.E548K 0.997 NULL pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 26 19 42.22 46 0 0.00 PPP2R5D 5528 genome.wustl.edu 37 6 42957400 42957400 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 6 42957400 42957400 G A SNP PPP2R5D ENST00000485511 human ensembl 70_37 +1 known missense c.79 p.D27N 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 35 25 41.67 57 0 0.00 PPP2R5E 5529 genome.wustl.edu 37 14 63848852 63848852 + Missense_Mutation SNP T T C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 63848852 63848852 T C SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known missense c.1226 p.N409S 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 26 17 39.53 54 0 0.00 PPP2R5E 5529 genome.wustl.edu 37 14 63888774 63888774 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 63888774 63888774 G A SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known silent c.393 p.D131 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 10 5 33.33 25 0 0.00 PPP2R5E 5529 genome.wustl.edu 37 14 64006361 64006361 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 64006361 64006361 C G SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known missense c.43 p.D15H 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 27 10 27.03 60 0 0.00 PPP3CA 5530 genome.wustl.edu 37 4 102004359 102004359 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 102004359 102004359 C T SNP PPP3CA ENST00000394854 human ensembl 70_37 -1 known missense c.844 p.E282K 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 19 10 34.48 37 0 0.00 PPP3CA 5530 genome.wustl.edu 37 4 102014971 102014971 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 102014971 102014971 G A SNP PPP3CA ENST00000394854 human ensembl 70_37 -1 known silent c.744 p.F248 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 28 16 36.36 56 0 0.00 PPP3CB 5532 genome.wustl.edu 37 10 75198056 75198056 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 75198056 75198056 G A SNP PPP3CB ENST00000394829 human ensembl 70_37 -1 known silent c.1522 p.L508 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 56 48 46.15 125 0 0.00 PPP3CB 5532 genome.wustl.edu 37 10 75204553 75204553 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 75204553 75204553 G C SNP PPP3CB ENST00000394829 human ensembl 70_37 -1 known silent c.1299 p.L433 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 35 10 22.22 40 0 0.00 PPP3CC 5533 genome.wustl.edu 37 8 22398215 22398215 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 22398215 22398215 G A SNP PPP3CC ENST00000240139 human ensembl 70_37 +1 known missense c.1439 p.R480Q 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 18 12 38.71 17 0 0.00 PPP3R2 5535 genome.wustl.edu 37 9 104356772 104356772 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 9 104356772 104356772 G A SNP PPP3R2 ENST00000374806 human ensembl 70_37 -1 known silent c.441 p.G147 0.678 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin,prints_Parvalbumin - no_errors PPP3R2 HGNC ENSG00000188386 40 21 34.43 63 0 0.00 PPP4R1 9989 genome.wustl.edu 37 18 9549288 9549288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9549288 9549288 G C SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.2596 p.L866V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 41 28 40.58 56 0 0.00 PPP4R1 9989 genome.wustl.edu 37 18 9557315 9557315 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 9557315 9557315 C T SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known silent c.2094 p.L698 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 16 10 38.46 30 0 0.00 PPP4R1 9989 genome.wustl.edu 37 18 9562029 9562029 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9562029 9562029 C G SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.1791 p.L597F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 18 11 37.93 34 0 0.00 PPP4R1 9989 genome.wustl.edu 37 18 9562029 9562029 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 9562029 9562029 C G SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.1791 p.L597F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 33 15 31.25 27 0 0.00 PPP4R1 9989 genome.wustl.edu 37 18 9570273 9570273 + Silent SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 9570273 9570273 T C SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known silent c.1455 p.P485 0.143 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 72 10 12.20 104 0 0.00 PPP4R1L 55370 genome.wustl.edu 37 20 56818699 56818699 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 56818699 56818699 C T SNP PPP4R1L ENST00000497138 human ensembl 70_37 -1 known missense c.85 p.E29K 0.000 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC ENSG00000124224 45 26 36.11 65 0 0.00 PPP4R1L 55370 genome.wustl.edu 37 20 56818705 56818705 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 56818705 56818705 C T SNP PPP4R1L ENST00000497138 human ensembl 70_37 -1 known missense c.79 p.E27K 0.005 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC ENSG00000124224 42 32 43.24 62 0 0.00 PPP4R1L 55370 genome.wustl.edu 37 20 56823266 56823266 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 56823266 56823266 A C SNP PPP4R1L ENST00000334187 human ensembl 70_37 -1 known missense c.673 p.C225G 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1L HGNC ENSG00000124224 16 4 20.00 49 0 0.00 PPP4R1L 55370 genome.wustl.edu 37 20 56825954 56825954 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 56825954 56825954 C G SNP PPP4R1L ENST00000334187 human ensembl 70_37 -1 known missense c.598 p.E200Q 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1L HGNC ENSG00000124224 13 11 45.83 29 0 0.00 PPP4R4 57718 genome.wustl.edu 37 14 94696987 94696987 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94696987 94696987 C G SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.358 p.L120V 0.947 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 15 19 55.88 40 0 0.00 PPP4R4 57718 genome.wustl.edu 37 14 94716590 94716590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 94716590 94716590 G C SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.1693 p.E565Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 28 19 40.43 39 0 0.00 PPP4R4 57718 genome.wustl.edu 37 14 94718190 94718190 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 94718190 94718190 C G SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.1822 p.L608V 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 32 27 45.76 60 0 0.00 PPP5C 5536 genome.wustl.edu 37 19 46850429 46850429 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46850429 46850429 A G SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.76 p.K26E 1.000 pirsf_Ser/Thr_PPase_5 pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 8 9 52.94 31 0 0.00 PPP5C 5536 genome.wustl.edu 37 19 46857221 46857221 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 46857221 46857221 G A SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.338 p.R113Q 1.000 pfam_TPR-1,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 20 5 20.00 43 0 0.00 PPP5C 5536 genome.wustl.edu 37 19 46887119 46887119 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 46887119 46887119 C T SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.782 p.S261L 0.996 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 53 6 10.17 50 0 0.00 PPP5C 5536 genome.wustl.edu 37 19 46891689 46891689 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 46891689 46891689 C G SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known nonsense c.1160 p.S387* 0.996 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 101 31 23.48 111 0 0.00 PPP6R1 22870 genome.wustl.edu 37 19 55743238 55743238 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 55743238 55743238 G A SNP PPP6R1 ENST00000412770 human ensembl 70_37 -1 known silent c.2238 p.L746 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 23 26 53.06 44 0 0.00 PPP6R1 22870 genome.wustl.edu 37 19 55743452 55743452 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55743452 55743452 G A SNP PPP6R1 ENST00000412770 human ensembl 70_37 -1 known nonsense c.2116 p.Q706* 0.196 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 54 20 27.03 35 0 0.00 PPP6R2 9701 genome.wustl.edu 37 22 50845122 50845122 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50845122 50845122 C G SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.232 p.P78A 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 21 9 29.03 41 0 0.00 PPP6R2 9701 genome.wustl.edu 37 22 50876641 50876641 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 50876641 50876641 C A SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known silent c.1878 p.R626 0.992 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 29 17 36.96 33 0 0.00 PPP6R2 9701 genome.wustl.edu 37 22 50877166 50877166 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 50877166 50877166 G - DEL PPP6R2 ENST00000216061 human ensembl 70_37 +1 known frame_shift_del c.2103 p.P703fs 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 32 12 27.27 27 0 0.00 PPP6R2 9701 genome.wustl.edu 37 22 50878267 50878267 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 50878267 50878267 G A SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.2266 p.D756N 0.999 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 44 17 27.87 49 0 0.00 PPP6R2 9701 genome.wustl.edu 37 22 50879329 50879329 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 50879329 50879329 C G SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.2474 p.S825C 0.997 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 46 16 25.81 109 0 0.00 PPP6R3 55291 genome.wustl.edu 37 11 68312347 68312347 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 11 68312347 68312347 C G SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known missense c.269 p.S90C 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 37 5 11.90 56 0 0.00 PPP6R3 55291 genome.wustl.edu 37 11 68312351 68312351 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 68312351 68312351 G A SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known silent c.273 p.Q91 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 36 9 20.00 31 0 0.00 PPP6R3 55291 genome.wustl.edu 37 11 68312450 68312450 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 11 68312450 68312450 C T SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known silent c.372 p.F124 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 75 10 11.76 95 0 0.00 PPP6R3 55291 genome.wustl.edu 37 11 68369359 68369359 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 68369359 68369359 C T SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known missense c.2221 p.P741S 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 32 14 30.43 32 0 0.00 PPRC1 23082 genome.wustl.edu 37 10 103901643 103901643 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103901643 103901643 G C SNP PPRC1 ENST00000278070 human ensembl 70_37 +1 known missense c.3378 p.Q1126H 0.880 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 46 9 16.36 63 0 0.00 PPRC1 23082 genome.wustl.edu 37 10 103907125 103907125 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 103907125 103907125 C A SNP PPRC1 ENST00000278070 human ensembl 70_37 +1 known missense c.4376 p.S1459Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 101 35 25.74 144 0 0.00 PPRC1 23082 genome.wustl.edu 37 10 103908292 103908292 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 103908292 103908292 C T SNP PPRC1 ENST00000495914 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPRC1 HGNC ENSG00000148840 27 17 38.64 43 0 0.00 PPT1 5538 genome.wustl.edu 37 1 40539719 40539719 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 40539719 40539719 G A SNP PPT1 ENST00000372775 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PPT1 HGNC ENSG00000131238 53 16 23.19 50 0 0.00 PPT1 5538 genome.wustl.edu 37 1 40557775 40557775 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40557775 40557775 C A SNP PPT1 ENST00000433473 human ensembl 70_37 -1 known missense c.304 p.D102Y 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 29 5 14.71 29 0 0.00 PPT2 9374 genome.wustl.edu 37 6 32122483 32122483 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 32122483 32122483 C T SNP PPT2 ENST00000361568 human ensembl 70_37 +1 known missense c.130 p.P44S 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 64 47 41.96 104 0 0.00 PPTC7 160760 genome.wustl.edu 37 12 110983707 110983707 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 110983707 110983707 C T SNP PPTC7 ENST00000354300 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPTC7 HGNC ENSG00000196850 36 27 42.86 29 0 0.00 PPTC7 160760 genome.wustl.edu 37 12 110983707 110983707 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 12 110983707 110983707 C T SNP PPTC7 ENST00000354300 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPTC7 HGNC ENSG00000196850 74 60 44.78 121 0 0.00 PPWD1 23398 genome.wustl.edu 37 5 64867770 64867770 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 64867770 64867770 G C SNP PPWD1 ENST00000261308 human ensembl 70_37 +1 known missense c.626 p.R209P 1.000 superfamily_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPWD1 HGNC ENSG00000113593 124 38 23.46 174 0 0.00 PPY2 23614 genome.wustl.edu 37 17 26575172 26575172 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 26575172 26575172 C G SNP PPY2 ENST00000583761 human ensembl 70_37 +1 known rna NULL NULL 0.277 - - - no_errors PPY2 HGNC ENSG00000265060 45 10 18.18 52 0 0.00 NPY4R 5540 genome.wustl.edu 37 10 47086912 47086912 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 47086912 47086912 C A SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known missense c.129 p.F43L 0.996 prints_NPY4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 126 42 25.00 198 0 0.00 NPY4R 5540 genome.wustl.edu 37 10 47087122 47087122 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 47087122 47087122 C T SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known silent c.339 p.L113 0.502 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 43 6 12.24 77 0 0.00 NPY4R 5540 genome.wustl.edu 37 10 47087829 47087829 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 47087829 47087829 C G SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known missense c.1046 p.S349W 0.047 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 78 17 17.89 77 0 0.00 PQBP1 10084 genome.wustl.edu 37 X 48755725 48755725 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48755725 48755725 G T SNP PQBP1 ENST00000473764 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PQBP1 HGNC ENSG00000102103 20 25 55.56 63 0 0.00 PQBP1 10084 genome.wustl.edu 37 X 48758478 48758478 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48758478 48758478 G C SNP PQBP1 ENST00000218224 human ensembl 70_37 +1 known missense c.79 p.E27Q 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PQBP1 HGNC ENSG00000102103 45 31 40.79 44 0 0.00 PQLC2 54896 genome.wustl.edu 37 1 19651254 19651254 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19651254 19651254 C A SNP PQLC2 ENST00000375153 human ensembl 70_37 +1 known missense c.292 p.Q98K 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 38 30 42.86 58 0 0.00 PQLC3 130814 genome.wustl.edu 37 2 11312118 11312118 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 11312118 11312118 A C SNP PQLC3 ENST00000295083 human ensembl 70_37 +1 known missense c.422 p.D141A 1.000 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC ENSG00000162976 23 4 14.81 38 0 0.00 PRADC1 84279 genome.wustl.edu 37 2 73456064 73456064 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 73456064 73456064 C A SNP PRADC1 ENST00000258083 human ensembl 70_37 -1 known missense c.305 p.R102L 0.988 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 28 5 15.15 32 0 0.00 PRADC1 84279 genome.wustl.edu 37 2 73456686 73456686 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 73456686 73456686 C T SNP PRADC1 ENST00000258083 human ensembl 70_37 -1 known missense c.181 p.E61K 1.000 NULL pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 26 6 18.75 34 0 0.00 PRAF2 11230 genome.wustl.edu 37 X 48931629 48931629 + Silent SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 X 48931629 48931629 C T SNP PRAF2 ENST00000376390 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors PRAF2 HGNC ENSG00000243279 59 21 26.25 88 0 0.00 PRAM1 84106 genome.wustl.edu 37 19 8563824 8563824 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 8563824 8563824 G T SNP PRAM1 ENST00000423345 human ensembl 70_37 -1 known missense c.868 p.L290I 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 33 4 10.81 37 0 0.00 PRAMEF1 65121 genome.wustl.edu 37 1 12854277 12854277 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12854277 12854277 C G SNP PRAMEF1 ENST00000332296 human ensembl 70_37 +1 known silent c.501 p.L167 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 228 51 18.21 356 1 0.28 PRAMEF1 65121 genome.wustl.edu 37 1 12855773 12855773 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12855773 12855773 C G SNP PRAMEF1 ENST00000332296 human ensembl 70_37 +1 known silent c.1053 p.L351 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 150 69 31.51 180 0 0.00 PRAMEF10 343071 genome.wustl.edu 37 1 12954896 12954896 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 12954896 12954896 C G SNP PRAMEF10 ENST00000235347 human ensembl 70_37 -1 known missense c.387 p.M129I 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 88 53 37.59 118 0 0.00 PRAMEF11 440560 genome.wustl.edu 37 1 12884934 12884934 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12884934 12884934 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1177 p.Q393E 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 122 73 37.44 194 0 0.00 PRAMEF11 440560 genome.wustl.edu 37 1 12885022 12885022 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12885022 12885022 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1089 p.I363M 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 114 75 39.68 200 0 0.00 PRAMEF11 440560 genome.wustl.edu 37 1 12885048 12885048 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12885048 12885048 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1063 p.L355V 0.002 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 96 72 42.86 179 0 0.00 PRAMEF11 440560 genome.wustl.edu 37 1 12885298 12885298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12885298 12885298 C T SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known silent c.813 p.L271 0.001 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 154 18 10.47 233 0 0.00 PRAMEF11 440560 genome.wustl.edu 37 1 12888364 12888364 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 12888364 12888364 G A SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.160 p.R54C 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 84 24 22.02 49 0 0.00 PRAMEF12 390999 genome.wustl.edu 37 1 12835064 12835064 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 12835064 12835064 G A SNP PRAMEF12 ENST00000357726 human ensembl 70_37 +1 known silent c.54 p.L18 0.019 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 94 32 25.40 147 0 0.00 PRAMEF12 390999 genome.wustl.edu 37 1 12837347 12837347 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 12837347 12837347 C G SNP PRAMEF12 ENST00000357726 human ensembl 70_37 +1 known missense c.1057 p.L353V 0.060 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 280 115 29.11 194 0 0.00 PRAMEF13 729528 genome.wustl.edu 37 1 13448422 13448422 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 13448422 13448422 G C SNP PRAMEF13 ENST00000376132 human ensembl 70_37 -1 known silent c.1053 p.L351 0.002 NULL NULL - no_errors PRAMEF13 HGNC ENSG00000204495 33 16 32.65 65 0 0.00 PRAMEF14 729528 genome.wustl.edu 37 1 13669173 13669173 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 13669173 13669173 C T SNP PRAMEF14 ENST00000334600 human ensembl 70_37 -1 known missense c.1157 p.R386K 0.000 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 99 28 22.05 165 0 0.00 PRAMEF18 391003 genome.wustl.edu 37 1 13475010 13475010 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 13475010 13475010 C T SNP PRAMEF18 ENST00000376126 human ensembl 70_37 -1 known silent c.1119 p.L373 0.955 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 163 51 23.83 187 0 0.00 PRAMEF2 65122 genome.wustl.edu 37 1 12918971 12918971 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 12918971 12918971 A G SNP PRAMEF2 ENST00000240189 human ensembl 70_37 +1 known missense c.107 p.Y36C 0.000 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 109 51 31.87 130 0 0.00 PRAMEF2 65122 genome.wustl.edu 37 1 12921152 12921152 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 12921152 12921152 C T SNP PRAMEF2 ENST00000240189 human ensembl 70_37 +1 known nonsense c.943 p.Q315* 0.068 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 93 27 22.50 123 0 0.00 PRAMEF2 65122 genome.wustl.edu 37 1 12921378 12921378 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12921378 12921378 C T SNP PRAMEF2 ENST00000240189 human ensembl 70_37 +1 known missense c.1169 p.S390F 0.003 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 115 92 44.44 187 0 0.00 PRAMEF20 645425 genome.wustl.edu 37 1 13743092 13743092 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 13743092 13743092 G A SNP PRAMEF20 ENST00000316412 human ensembl 70_37 +1 known missense c.281 p.R94H 0.001 NULL NULL - no_errors PRAMEF20 HGNC ENSG00000204478 80 38 32.20 93 0 0.00 PRAMEF22 653606 genome.wustl.edu 37 1 13038327 13038327 + Silent SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 1 13038327 13038327 G T SNP PRAMEF22 ENST00000376187 human ensembl 70_37 +1 known silent c.1392 p.T464 0.000 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 7 7 50.00 9 0 0.00 PRAMEF3 401940 genome.wustl.edu 37 1 13330569 13330569 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 13330569 13330569 G A SNP PRAMEF3 ENST00000376173 human ensembl 70_37 -1 known silent c.717 p.L239 0.014 NULL NULL - no_errors PRAMEF3 HGNC ENSG00000204503 7 30 81.08 59 0 0.00 PRAMEF4 400735 genome.wustl.edu 37 1 12939661 12939661 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 12939661 12939661 C G SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.1141 p.E381Q 0.010 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 296 87 22.72 475 0 0.00 PRAMEF4 400735 genome.wustl.edu 37 1 12941742 12941742 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 12941742 12941742 G A SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.808 p.R270C 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 101 45 30.82 79 0 0.00 PRAMEF4 400735 genome.wustl.edu 37 1 12941851 12941851 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 12941851 12941851 C T SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.699 p.M233I 0.004 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 297 64 17.73 352 1 0.28 PRAMEF4 400735 genome.wustl.edu 37 1 12941851 12941851 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 12941851 12941851 C T SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.699 p.M233I 0.004 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 31 13 29.55 39 0 0.00 PRAMEF4 400735 genome.wustl.edu 37 1 12943014 12943014 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 12943014 12943014 G C SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.202 p.L68V 0.014 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 92 75 44.91 167 0 0.00 PRAMEF7 441871 genome.wustl.edu 37 1 12979845 12979845 + Missense_Mutation SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12979845 12979845 T C SNP PRAMEF7 ENST00000330881 human ensembl 70_37 +1 known missense c.1037 p.V346A 0.001 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 166 19 10.27 182 0 0.00 PRAMEF7 441871 genome.wustl.edu 37 1 12979858 12979858 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 12979858 12979858 G A SNP PRAMEF7 ENST00000330881 human ensembl 70_37 +1 known silent c.1050 p.L350 0.493 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 168 42 20.00 160 0 0.00 PRB1 5542 genome.wustl.edu 37 12 11506810 11506810 + Missense_Mutation SNP T T A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 11506810 11506810 T A SNP PRB1 ENST00000500254 human ensembl 70_37 -1 known missense c.227 p.K76M 0.000 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 127 22 14.77 165 0 0.00 PRB2 653247 genome.wustl.edu 37 12 11545880 11545880 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 11545880 11545880 G A SNP PRB2 ENST00000389362 human ensembl 70_37 -1 known nonsense c.1132 p.Q378* 0.030 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 70 29 29.29 125 0 0.00 PRB2 653247 genome.wustl.edu 37 12 11547437 11547437 + Missense_Mutation SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 12 11547437 11547437 A G SNP PRB2 ENST00000389362 human ensembl 70_37 -1 known missense c.92 p.L31P 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 112 37 24.83 141 0 0.00 PRB3 5544 genome.wustl.edu 37 12 11420539 11420539 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 11420539 11420539 G A SNP PRB3 ENST00000538488 human ensembl 70_37 -1 known missense c.581 p.S194F 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 42 9 17.65 69 0 0.00 PRB3 5544 genome.wustl.edu 37 12 11420602 11420602 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 11420602 11420602 G A SNP PRB3 ENST00000381842 human ensembl 70_37 -1 known missense c.581 p.S194F 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 53 11 17.19 92 0 0.00 PRB3 5544 genome.wustl.edu 37 12 11420626 11420626 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 11420626 11420626 G T SNP PRB3 ENST00000381842 human ensembl 70_37 -1 known missense c.557 p.P186Q 0.048 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 18 6 24.00 15 0 0.00 PRB3 5544 genome.wustl.edu 37 12 11420837 11420837 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 11420837 11420837 G A SNP PRB3 ENST00000381842 human ensembl 70_37 -1 known missense c.346 p.R116C 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 26 13 33.33 54 0 0.00 PRB4 5545 genome.wustl.edu 37 12 11461645 11461645 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 11461645 11461645 C A SNP PRB4 ENST00000279575 human ensembl 70_37 -1 known missense c.272 p.G91V 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 125 55 30.56 148 0 0.00 PRB4 5545 genome.wustl.edu 37 12 11461706 11461706 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 11461706 11461706 G T SNP PRB4 ENST00000279575 human ensembl 70_37 -1 known missense c.211 p.P71T 0.001 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 22 13 37.14 20 0 0.00 PRC1 9055 genome.wustl.edu 37 15 91522427 91522427 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91522427 91522427 C G SNP PRC1 ENST00000394249 human ensembl 70_37 -1 known missense c.1068 p.Q356H 0.998 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 41 10 19.61 74 0 0.00 PRCD 768206 genome.wustl.edu 37 17 74542943 74542943 + RNA SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 74542943 74542943 G T SNP PRCD ENST00000592432 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors PRCD HGNC ENSG00000214140 48 7 12.73 36 0 0.00 PRCP 5547 genome.wustl.edu 37 11 82535964 82535964 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 82535964 82535964 G A SNP PRCP ENST00000393399 human ensembl 70_37 -1 known missense c.1538 p.A513V 0.000 NULL pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 8 20 71.43 34 0 0.00 PRCP 5547 genome.wustl.edu 37 11 82564294 82564294 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 82564294 82564294 T G SNP PRCP ENST00000393399 human ensembl 70_37 -1 known missense c.399 p.E133D 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 35 4 10.26 40 0 0.00 PRCP 5547 genome.wustl.edu 37 11 82564297 82564297 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 82564297 82564297 C T SNP PRCP ENST00000393399 human ensembl 70_37 -1 known silent c.396 p.E132 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 28 4 12.50 36 0 0.00 PRDM1 639 genome.wustl.edu 37 6 106555001 106555001 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 106555001 106555001 G A SNP PRDM1 ENST00000369096 human ensembl 70_37 +1 known silent c.2118 p.L706 0.998 smart_Znf_C2H2-like,pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 32 16 33.33 37 0 0.00 PRDM10 56980 genome.wustl.edu 37 11 129788548 129788548 + Silent SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 11 129788548 129788548 G A SNP PRDM10 ENST00000358825 human ensembl 70_37 -1 known silent c.2112 p.A704 0.019 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 37 21 36.21 34 0 0.00 PRDM10 56980 genome.wustl.edu 37 11 129830857 129830857 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 129830857 129830857 C T SNP PRDM10 ENST00000358825 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 24 10 29.41 40 0 0.00 PRDM11 56981 genome.wustl.edu 37 11 45203391 45203391 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 45203391 45203391 C T SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known missense c.176 p.T59M 0.998 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 26 13 33.33 64 0 0.00 PRDM11 56981 genome.wustl.edu 37 11 45204615 45204615 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 45204615 45204615 G A SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known missense c.529 p.G177S 0.999 pfscan_SET_dom pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 18 9 33.33 43 0 0.00 PRDM11 56981 genome.wustl.edu 37 11 45241295 45241295 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 45241295 45241295 C T SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known silent c.831 p.R277 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 27 12 30.77 26 0 0.00 PRDM11 56981 genome.wustl.edu 37 11 45245934 45245934 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 45245934 45245934 G A SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known silent c.1011 p.L337 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 15 7 31.82 33 0 0.00 PRDM12 59335 genome.wustl.edu 37 9 133556792 133556792 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 133556792 133556792 C T SNP PRDM12 ENST00000253008 human ensembl 70_37 +1 known silent c.840 p.F280 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM12 HGNC ENSG00000130711 3 3 50.00 10 0 0.00 PRDM14 63978 genome.wustl.edu 37 8 70964454 70964454 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 70964454 70964454 G C SNP PRDM14 ENST00000276594 human ensembl 70_37 -1 known missense c.1574 p.S525C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 104 111 51.63 122 0 0.00 PRDM15 63977 genome.wustl.edu 37 21 43223066 43223066 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 43223066 43223066 C T SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3847 p.E1283K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 25 20 44.44 43 0 0.00 PRDM15 63977 genome.wustl.edu 37 21 43231133 43231133 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43231133 43231133 C G SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3550 p.E1184Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 52 6 10.34 78 0 0.00 PRDM15 63977 genome.wustl.edu 37 21 43231143 43231143 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43231143 43231143 C A SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3540 p.R1180S 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 52 7 11.86 78 0 0.00 PRDM15 63977 genome.wustl.edu 37 21 43254644 43254645 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 43254644 43254645 - C INS PRDM15 ENST00000538201 human ensembl 70_37 -1 known frame_shift_ins c.1396_1395 p.P465fs 0.000:0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 25 23 47.92 41 0 0.00 PRDM15 63977 genome.wustl.edu 37 21 43256674 43256674 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 43256674 43256674 G C SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.2184 p.I728M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 20 11 35.48 26 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3102760 3102760 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 3102760 3102760 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.109 p.E37K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 31 23 42.59 56 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3301735 3301735 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 3301735 3301735 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.458 p.S153N 0.000 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 101 24 19.20 145 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3313156 3313156 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 3313156 3313156 C T SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.675 p.D225 0.987 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 6 6 50.00 16 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3319365 3319365 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 3319365 3319365 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.687 p.T229 0.237 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 32 13 28.89 57 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3319365 3319365 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 3319365 3319365 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.687 p.T229 0.237 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 32 17 34.00 33 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3319477 3319477 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 3319477 3319477 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.799 p.E267K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 28 11 28.21 53 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3328829 3328829 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 3328829 3328829 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.2068 p.G690R 0.776 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 51 15 22.73 39 0 0.00 PRDM16 63976 genome.wustl.edu 37 1 3334454 3334454 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 3334454 3334454 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.2754 p.S918 0.012 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 17 5 22.73 42 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14105137 14105139 + In_Frame_Del DEL GAT GAT - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 14105137 14105139 GAT - DEL PRDM2 ENST00000235372 human ensembl 70_37 +1 known in_frame_del c.847_849 p.D286in_frame_del 0.967:0.959:0.929 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 33 4 10.81 45 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14105433 14105433 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 14105433 14105433 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known silent c.1143 p.I381 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 52 17 24.64 52 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14105434 14105434 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 14105434 14105434 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.1144 p.H382Y 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 52 17 24.64 53 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14105740 14105740 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 14105740 14105740 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.1450 p.P484S 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 6 6 50.00 23 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14106831 14106831 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 14106831 14106831 C G SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known silent c.2541 p.V847 0.023 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 32 14 30.43 47 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14107417 14107417 + Missense_Mutation SNP G G T TCGA-HM-A6W2-01A-21D-A33O-09 TCGA-HM-A6W2-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77da5f5d-4036-48c1-8992-651b8c0ed331 cd89b294-bf23-495d-a809-4ba324acc1ec 1 14107417 14107417 G T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.3127 p.A1043S 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 24 3 11.11 28 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14107618 14107618 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 14107618 14107618 C G SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.3328 p.L1110V 0.002 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 39 14 26.42 45 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14108334 14108334 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 14108334 14108334 G A SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known silent c.4044 p.L1348 0.992 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 23 5 17.86 53 0 0.00 PRDM2 7799 genome.wustl.edu 37 1 14108373 14108373 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 14108373 14108373 G C SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.4083 p.K1361N 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 18 4 18.18 56 0 0.00 PRDM4 11108 genome.wustl.edu 37 12 108128300 108128300 + Splice_Site SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 108128300 108128300 C G SNP PRDM4 ENST00000228437 human ensembl 70_37 -1 known splice_site c.2094-1 e11-1 1.000 - - - no_errors PRDM4 HGNC ENSG00000110851 19 9 32.14 22 0 0.00 PRDM4 11108 genome.wustl.edu 37 12 108150630 108150630 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 108150630 108150630 G C SNP PRDM4 ENST00000228437 human ensembl 70_37 -1 known missense c.124 p.H42D 1.000 pirsf_Znf_PRDM4 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 13 17 56.67 37 0 0.00 PRDM5 11107 genome.wustl.edu 37 4 121702439 121702439 + Silent SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 121702439 121702439 G A SNP PRDM5 ENST00000264808 human ensembl 70_37 -1 known silent c.1302 p.C434 0.993 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 26 4 13.33 27 0 0.00 PRDM5 11107 genome.wustl.edu 37 4 121742343 121742343 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 121742343 121742343 G C SNP PRDM5 ENST00000264808 human ensembl 70_37 -1 known nonsense c.458 p.S153* 0.000 pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 30 23 43.40 87 0 0.00 PRDM5 11107 genome.wustl.edu 37 4 121774626 121774626 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 121774626 121774626 G A SNP PRDM5 ENST00000264808 human ensembl 70_37 -1 known missense c.247 p.R83C 1.000 smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 38 16 29.63 36 0 0.00 PRDM5 11107 genome.wustl.edu 37 4 121774626 121774626 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 4 121774626 121774626 G A SNP PRDM5 ENST00000264808 human ensembl 70_37 -1 known missense c.247 p.R83C 1.000 smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 472 139 22.68 385 0 0.00 PRDM7 11105 genome.wustl.edu 37 16 90124847 90124847 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 90124847 90124847 G C SNP PRDM7 ENST00000325921 human ensembl 70_37 -1 known nonsense c.428 p.S143* 0.066 NULL NULL - no_errors PRDM7 HGNC ENSG00000126856 74 26 26.00 93 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23509156 23509156 + Missense_Mutation SNP A A T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 23509156 23509156 A T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.14 p.K5M 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 43 44 50.57 52 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23509646 23509646 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 23509646 23509646 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known nonsense c.137 p.W46* 0.993 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 37 14 27.45 51 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23510065 23510065 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 23510065 23510065 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.230 p.R77Q 0.293 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 75 20 21.05 62 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23521142 23521142 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 23521142 23521142 A G SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.362 p.K121R 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 71 20 21.98 61 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23522499 23522499 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 23522499 23522499 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.595 p.D199N 1.000 pfam_SSXRD_motif pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 21 18 46.15 48 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23524509 23524509 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 23524509 23524509 C T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1017 p.I339 1.000 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 64 22 25.58 82 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23524514 23524514 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 23524514 23524514 A T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.1022 p.Y341F 1.000 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 37 25 40.32 81 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23526462 23526462 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 23526462 23526462 G T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.1265 p.R422I 0.994 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 30 16 34.78 78 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23526496 23526496 + Silent SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 23526496 23526496 G T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1299 p.G433 0.007 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 52 16 23.53 64 0 0.00 PRDM9 56979 genome.wustl.edu 37 5 23526850 23526850 + Silent SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 23526850 23526850 C G SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1653 p.L551 0.733 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 111 40 26.49 133 0 0.00 PRDX1 5052 genome.wustl.edu 37 1 45977049 45977049 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45977049 45977049 G C SNP PRDX1 ENST00000262746 human ensembl 70_37 -1 known missense c.552 p.I184M 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 19 18 48.65 37 0 0.00 PRDX1 5052 genome.wustl.edu 37 1 45980297 45980297 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45980297 45980297 G A SNP PRDX1 ENST00000262746 human ensembl 70_37 -1 known silent c.396 p.I132 0.992 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 27 17 38.64 48 0 0.00 PRDX3 10935 genome.wustl.edu 37 10 120928885 120928885 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 120928885 120928885 C G SNP PRDX3 ENST00000494433 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PRDX3 HGNC ENSG00000165672 11 4 26.67 23 0 0.00 PRDX5 25824 genome.wustl.edu 37 11 64089124 64089124 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 64089124 64089124 C T SNP PRDX5 ENST00000265462 human ensembl 70_37 +1 known silent c.606 p.L202 1.000 superfamily_Thioredoxin-like_fold pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold - no_errors PRDX5 HGNC ENSG00000126432 41 24 36.92 52 0 0.00 PRDX6 9588 genome.wustl.edu 37 1 173455459 173455459 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 173455459 173455459 G A SNP PRDX6 ENST00000340385 human ensembl 70_37 +1 known silent c.465 p.R155 0.956 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 28 32 53.33 84 0 0.00 PREB 10113 genome.wustl.edu 37 2 27354887 27354887 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 27354887 27354887 G C SNP PREB ENST00000260643 human ensembl 70_37 -1 known missense c.990 p.F330L 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 144 28 16.28 135 0 0.00 PREB 10113 genome.wustl.edu 37 2 27355999 27355999 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27355999 27355999 C T SNP PREB ENST00000260643 human ensembl 70_37 -1 known missense c.532 p.V178I 0.260 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 18 12 40.00 49 0 0.00 PRELID2 153768 genome.wustl.edu 37 5 145133734 145133734 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 145133734 145133734 C A SNP PRELID2 ENST00000515161 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors PRELID2 HGNC ENSG00000186314 26 4 13.33 28 0 0.00 PRELID2 153768 genome.wustl.edu 37 5 145198965 145198965 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 145198965 145198965 G C SNP PRELID2 ENST00000334744 human ensembl 70_37 -1 known missense c.220 p.L74V 0.973 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC ENSG00000186314 11 16 59.26 26 0 0.00 PRELID2 153768 genome.wustl.edu 37 5 145198976 145198976 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 145198976 145198976 G A SNP PRELID2 ENST00000334744 human ensembl 70_37 -1 known missense c.209 p.S70F 0.187 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC ENSG00000186314 29 14 32.56 34 0 0.00 PRELP 5549 genome.wustl.edu 37 1 203453017 203453017 + Missense_Mutation SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 203453017 203453017 G T SNP PRELP ENST00000343110 human ensembl 70_37 +1 known missense c.705 p.K235N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 191 55 22.27 170 0 0.00 PREP 5550 genome.wustl.edu 37 6 105736680 105736680 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 105736680 105736680 G C SNP PREP ENST00000369110 human ensembl 70_37 -1 known missense c.1407 p.F469L 1.000 prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 11 34 75.56 51 0 0.00 PREP 5550 genome.wustl.edu 37 6 105736680 105736680 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 105736680 105736680 G T SNP PREP ENST00000369110 human ensembl 70_37 -1 known missense c.1407 p.F469L 1.000 prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 32 4 11.11 64 0 0.00 PREPL 9581 genome.wustl.edu 37 2 44549013 44549013 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 44549013 44549013 C G SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.2047 p.D683H 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 43 18 29.51 35 0 0.00 PREPL 9581 genome.wustl.edu 37 2 44553900 44553900 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 44553900 44553900 C T SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.1697 p.G566E 1.000 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 44 11 20.00 35 0 0.00 PREPL 9581 genome.wustl.edu 37 2 44586667 44586667 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 44586667 44586667 C T SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.188 p.R63K 1.000 NULL pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 20 9 31.03 27 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47256415 47256415 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 47256415 47256415 C T SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3793 p.E1265K 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 39 27 40.91 69 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47258742 47258742 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 47258742 47258742 C G SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3739 p.E1247Q 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 81 12 12.90 78 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47258778 47258778 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 47258778 47258778 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3703 p.L1235V 0.906 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 18 32 64.00 51 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47260976 47260976 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 47260976 47260976 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3572 p.S1191C 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 29 12 29.27 26 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47274692 47274692 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 47274692 47274692 C G SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1956 p.Q652H 0.998 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 332 62 15.70 520 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47276504 47276504 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 47276504 47276504 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1834 p.R612G 0.983 superfamily_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 47 11 18.97 43 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47305245 47305245 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 47305245 47305245 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1284 p.I428M 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 118 28 19.18 84 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47307544 47307544 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 47307544 47307544 G A SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1127 p.T376M 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 37 53 58.89 28 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47361648 47361648 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 47361648 47361648 G A SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.328 p.H110Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 93 27 22.50 123 0 0.00 PREX1 57580 genome.wustl.edu 37 20 47444178 47444178 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 47444178 47444178 C T SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known splice_site c.219+1 e1+1 1.000 - - - no_errors PREX1 HGNC ENSG00000124126 36 5 12.20 76 0 0.00 PREX2 80243 genome.wustl.edu 37 8 68968202 68968202 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 68968202 68968202 C T SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.1231 p.L411F 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 68 16 19.05 90 0 0.00 PREX2 80243 genome.wustl.edu 37 8 68995620 68995620 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 68995620 68995620 G A SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.2024 p.R675K 1.000 superfamily_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 37 9 19.57 42 0 0.00 PREX2 80243 genome.wustl.edu 37 8 69069589 69069589 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 69069589 69069589 G T SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.4264 p.D1422Y 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 27 8 22.86 48 0 0.00 PRF1 5551 genome.wustl.edu 37 10 72357976 72357976 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 72357976 72357976 G A SNP PRF1 ENST00000318971 human ensembl 70_37 -1 known missense c.1501 p.P501S 0.019 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors PRF1 HGNC ENSG00000180644 39 18 31.58 45 0 0.00 PRG2 5553 genome.wustl.edu 37 11 57156581 57156581 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 57156581 57156581 G A SNP PRG2 ENST00000311862 human ensembl 70_37 -1 known missense c.268 p.P90S 0.204 smart_C-type_lectin,prints_Eosinophil_major_basic pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG2 HGNC ENSG00000186652 57 11 16.18 64 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186273271 186273271 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 186273271 186273271 G C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.351 p.K117N 0.836 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 62 17 21.52 33 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186275501 186275501 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 186275501 186275501 C A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.650 p.P217Q 0.808 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 176 57 24.36 169 1 0.59 PRG4 10216 genome.wustl.edu 37 1 186275501 186275501 + Missense_Mutation SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 186275501 186275501 C A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.650 p.P217Q 0.808 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 63 30 32.26 27 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186275597 186275597 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186275597 186275597 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.746 p.S249F 0.923 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 50 25 32.47 54 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186276247 186276247 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 186276247 186276247 G A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.1396 p.E466K 0.002 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 96 24 20.00 121 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186276585 186276585 + Silent SNP A A C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 186276585 186276585 A C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known silent c.1734 p.P578 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 44 5 10.20 53 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186277493 186277493 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277493 186277493 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.288 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 264 36 12.00 203 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186277493 186277493 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277493 186277493 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.288 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 67 12 15.19 38 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186277798 186277798 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277798 186277798 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2947 p.P983S 0.104 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 302 39 11.40 258 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186277798 186277798 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277798 186277798 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2947 p.P983S 0.104 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 84 12 12.37 39 0 0.00 PRG4 10216 genome.wustl.edu 37 1 186280599 186280599 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 186280599 186280599 G A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.3664 p.D1222N 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC ENSG00000116690 29 10 25.64 50 0 0.00 PRH2 5555 genome.wustl.edu 37 12 11083355 11083355 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 11083355 11083355 G C SNP PRH2 ENST00000381847 human ensembl 70_37 +1 known missense c.195 p.Q65H 0.000 NULL NULL - no_errors PRH2 HGNC ENSG00000134551 77 35 31.25 178 0 0.00 URAD 646625 genome.wustl.edu 37 13 28562708 28562708 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 13 28562708 28562708 C G SNP PRHOXNB ENST00000332715 human ensembl 70_37 -1 known missense c.67 p.E23Q 0.380 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 - no_errors PRHOXNB HGNC ENSG00000183463 78 13 14.29 67 0 0.00 PRICKLE1 144165 genome.wustl.edu 37 12 42858228 42858228 + Silent SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 42858228 42858228 C T SNP PRICKLE1 ENST00000345127 human ensembl 70_37 -1 known silent c.1608 p.S536 0.941 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 49 11 18.33 43 0 0.00 PRICKLE2 166336 genome.wustl.edu 37 3 64133026 64133026 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 64133026 64133026 G T SNP PRICKLE2 ENST00000295902 human ensembl 70_37 -1 known missense c.1140 p.S380R 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 43 15 25.86 50 0 0.00 PRICKLE2-AS1 100652759 genome.wustl.edu 37 3 64083625 64083625 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 64083625 64083625 C G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 24 12 33.33 33 0 0.00 PRICKLE3 4007 genome.wustl.edu 37 X 49032207 49032207 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 49032207 49032207 C T SNP PRICKLE3 ENST00000376317 human ensembl 70_37 -1 known missense c.1663 p.E555K 0.869 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 177 37 17.21 211 1 0.47 PRICKLE3 4007 genome.wustl.edu 37 X 49034710 49034710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 49034710 49034710 C G SNP PRICKLE3 ENST00000376317 human ensembl 70_37 -1 known missense c.679 p.D227H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 26 19 42.22 71 0 0.00 PRICKLE3 4007 genome.wustl.edu 37 X 49040116 49040119 + Frame_Shift_Del DEL GTGT GTGT - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 X 49040116 49040119 GTGT - DEL PRICKLE3 ENST00000536904 human ensembl 70_37 -1 known frame_shift_del c.179_176 p.H59fs 0.149:0.119:0.101:0.083 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 8 2 20.00 31 0 0.00 PRICKLE4 29964 genome.wustl.edu 37 6 41752606 41752606 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41752606 41752606 C A SNP PRICKLE4 ENST00000463606 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PRICKLE4 HGNC ENSG00000124593 60 44 42.31 78 0 0.00 PRICKLE4 29964 genome.wustl.edu 37 6 41754697 41754697 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 41754697 41754697 G C SNP PRICKLE4 ENST00000335515 human ensembl 70_37 +1 known missense c.985 p.E329Q 0.019 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 80 32 28.57 92 0 0.00 PRIM1 5557 genome.wustl.edu 37 12 57127958 57127958 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57127958 57127958 G A SNP PRIM1 ENST00000338193 human ensembl 70_37 -1 known nonsense c.1216 p.R406* 0.494 NULL pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC ENSG00000198056 14 8 36.36 21 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57393103 57393103 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 57393103 57393103 T G SNP PRIM2 ENST00000550475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRIM2 HGNC ENSG00000146143 36 7 16.28 47 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57398204 57398204 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 57398204 57398204 C T SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PRIM2 HGNC ENSG00000146143 45 8 15.09 135 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57512726 57512726 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 57512726 57512726 C G SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.106 - - - no_errors PRIM2 HGNC ENSG00000146143 41 5 10.87 45 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57512788 57512789 + RNA INS - - TA TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 57512788 57512789 - TA INS PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.034:0.053 - - - no_errors PRIM2 HGNC ENSG00000146143 6 4 40.00 11 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57512841 57512841 + RNA SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 57512841 57512841 A G SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.268 - - - no_errors PRIM2 HGNC ENSG00000146143 26 7 21.21 19 0 0.00 PRIM2 5558 genome.wustl.edu 37 6 57512874 57512874 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 57512874 57512874 G A SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors PRIM2 HGNC ENSG00000146143 9 5 35.71 9 0 0.00 PRIMA1 145270 genome.wustl.edu 37 14 94245521 94245521 + Splice_Site SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 94245521 94245521 C T SNP PRIMA1 ENST00000393140 human ensembl 70_37 -1 known splice_site c.229+1 e2+1 1.000 - - - no_errors PRIMA1 HGNC ENSG00000175785 18 10 35.71 23 0 0.00 PRKAA2 5563 genome.wustl.edu 37 1 57158046 57158046 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 57158046 57158046 G A SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.346 p.A116T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC ENSG00000162409 39 15 27.78 37 0 0.00 PRKAA2 5563 genome.wustl.edu 37 1 57161821 57161821 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 57161821 57161821 C G SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.777 p.I259M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC ENSG00000162409 22 7 24.14 34 0 0.00 PRKAA2 5563 genome.wustl.edu 37 1 57173318 57173318 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 57173318 57173318 C T SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.1591 p.R531C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC ENSG00000162409 52 23 30.67 39 0 0.00 PRKAB1 5564 genome.wustl.edu 37 12 120118157 120118157 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120118157 120118157 G A SNP PRKAB1 ENST00000537057 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRKAB1 HGNC ENSG00000111725 12 6 33.33 11 0 0.00 PRKAB2 5565 genome.wustl.edu 37 1 146631137 146631137 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 146631137 146631137 G A SNP PRKAB2 ENST00000496858 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors PRKAB2 HGNC ENSG00000131791 38 18 32.14 47 0 0.00 PRKACA 5566 genome.wustl.edu 37 19 14208228 14208228 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 14208228 14208228 G A SNP PRKACA ENST00000308677 human ensembl 70_37 -1 known missense c.710 p.P237L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 27 14 34.15 28 0 0.00 PRKACA 5566 genome.wustl.edu 37 19 14208672 14208672 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 14208672 14208672 C A SNP PRKACA ENST00000308677 human ensembl 70_37 -1 known missense c.450 p.Q150H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 20 5 20.00 35 0 0.00 PRKACB 5567 genome.wustl.edu 37 1 84644606 84644606 + RNA SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 84644606 84644606 A C SNP PRKACB ENST00000467507 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PRKACB HGNC ENSG00000142875 20 9 31.03 17 0 0.00 PRKACG 5568 genome.wustl.edu 37 9 71628379 71628379 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 71628379 71628379 G T SNP PRKACG ENST00000377276 human ensembl 70_37 -1 known silent c.630 p.I210 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 20 16 44.44 27 0 0.00 PRKAG1 5571 genome.wustl.edu 37 12 49399151 49399151 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49399151 49399151 G C SNP PRKAG1 ENST00000316299 human ensembl 70_37 -1 novel missense c.274 p.L92V 0.266 smart_Cysta_beta_synth_core pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG1 HGNC ENSG00000181929 39 15 27.78 27 0 0.00 PRKAG2 51422 genome.wustl.edu 37 7 151292526 151292526 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 151292526 151292526 C G SNP PRKAG2 ENST00000287878 human ensembl 70_37 -1 known missense c.769 p.E257Q 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG2 HGNC ENSG00000106617 34 16 32.00 64 0 0.00 PRKAG2 51422 genome.wustl.edu 37 7 151478481 151478481 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 151478481 151478481 C T SNP PRKAG2 ENST00000287878 human ensembl 70_37 -1 known missense c.223 p.G75R 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG2 HGNC ENSG00000106617 33 4 10.81 26 0 0.00 PRKAR1B 5575 genome.wustl.edu 37 7 590220 590220 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 590220 590220 C T SNP PRKAR1B ENST00000360274 human ensembl 70_37 -1 known silent c.993 p.L331 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 23 7 23.33 27 0 0.00 PRKAR2A 5576 genome.wustl.edu 37 3 48884906 48884906 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 48884906 48884906 C T SNP PRKAR2A ENST00000265563 human ensembl 70_37 -1 known missense c.124 p.E42K 1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2A HGNC ENSG00000114302 33 4 10.81 18 0 0.00 PRKCA 5578 genome.wustl.edu 37 17 64299116 64299116 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 64299116 64299116 C T SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known silent c.147 p.F49 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 67 8 10.67 33 0 0.00 PRKCA 5578 genome.wustl.edu 37 17 64685163 64685163 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 64685163 64685163 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 63 22 25.88 72 0 0.00 PRKCA 5578 genome.wustl.edu 37 17 64783006 64783006 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 64783006 64783006 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.1627 p.E543K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 54 33 37.93 75 0 0.00 PRKCA 5578 genome.wustl.edu 37 17 64800031 64800031 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 64800031 64800031 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.1895 p.R632Q 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 36 9 20.00 75 0 0.00 PRKCB 5579 genome.wustl.edu 37 16 24166139 24166139 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 24166139 24166139 G A SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known silent c.1200 p.P400 0.055 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 24 13 35.14 56 0 0.00 PRKCB 5579 genome.wustl.edu 37 16 24166169 24166169 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 24166169 24166169 C G SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known missense c.1230 p.F410L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 43 18 29.51 55 0 0.00 PRKCB 5579 genome.wustl.edu 37 16 24231365 24231365 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 24231365 24231365 C T SNP PRKCB ENST00000321728 human ensembl 70_37 +1 known silent c.1947 p.I649 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 34 23 39.66 62 0 0.00 PRKCD 5580 genome.wustl.edu 37 3 53213604 53213604 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 53213604 53213604 A C SNP PRKCD ENST00000330452 human ensembl 70_37 +1 known missense c.127 p.T43P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCD HGNC ENSG00000163932 41 7 14.58 73 0 0.00 PRKCDBP 112464 genome.wustl.edu 37 11 6340548 6340548 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 6340548 6340548 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.631 p.R211G 0.995 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 4 9 69.23 23 0 0.00 PRKCDBP 112464 genome.wustl.edu 37 11 6340598 6340598 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 6340598 6340598 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.581 p.S194W 0.486 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 9 3 25.00 20 0 0.00 PRKCDBP 112464 genome.wustl.edu 37 11 6341326 6341326 + Missense_Mutation SNP G G C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 6341326 6341326 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.381 p.F127L 1.000 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 16 18 52.94 29 0 0.00 PRKCDBP 112464 genome.wustl.edu 37 11 6341334 6341334 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6341334 6341334 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.373 p.L125V 0.999 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 19 3 13.64 20 0 0.00 PRKCE 5581 genome.wustl.edu 37 2 46378297 46378297 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 46378297 46378297 G A SNP PRKCE ENST00000306156 human ensembl 70_37 +1 known missense c.1849 p.E617K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 27 13 32.50 43 0 0.00 PRKCG 5582 genome.wustl.edu 37 19 54406378 54406378 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 54406378 54406378 G A SNP PRKCG ENST00000540413 human ensembl 70_37 +1 known missense c.1627 p.V543I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 30 9 23.08 46 0 0.00 PRKCH 5583 genome.wustl.edu 37 14 61789110 61789110 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 61789110 61789110 C G SNP PRKCH ENST00000332981 human ensembl 70_37 +1 known missense c.291 p.F97L 0.996 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 26 10 27.78 52 0 0.00 PRKCH 5583 genome.wustl.edu 37 14 62017244 62017244 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 62017244 62017244 C A SNP PRKCH ENST00000556245 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PRKCH HGNC ENSG00000027075 10 14 58.33 38 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 169953073 169953073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 169953073 169953073 G C SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.157 p.E53Q 1.000 pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 47 14 22.95 24 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 169981171 169981171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 169981171 169981171 C G SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.318 p.F106L 0.718 pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 44 31 41.33 76 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 169985710 169985710 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 169985710 169985710 C G SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.372 p.I124M 0.999 pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 94 11 10.48 49 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 169998171 169998171 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 169998171 169998171 G C SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.862 p.E288Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 72 18 19.78 68 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 169998189 169998189 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 169998189 169998189 G A SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 45 146 76.44 33 0 0.00 PRKCI 5584 genome.wustl.edu 37 3 170011255 170011255 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170011255 170011255 C T SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.1376 p.S459F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 115 40 25.81 73 0 0.00 PRKCQ 5588 genome.wustl.edu 37 10 6525506 6525506 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 6525506 6525506 G C SNP PRKCQ ENST00000263125 human ensembl 70_37 -1 known missense c.1075 p.L359V 0.019 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 53 9 14.52 59 0 0.00 PRKCSH 5589 genome.wustl.edu 37 19 11557090 11557090 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 11557090 11557090 C A SNP PRKCSH ENST00000252455 human ensembl 70_37 +1 known silent c.687 p.V229 0.833 pfscan_EF_HAND_2 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_HAND_2 - no_errors PRKCSH HGNC ENSG00000130175 41 8 16.33 34 0 0.00 PRKCZ 5590 genome.wustl.edu 37 1 1986919 1986919 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 1986919 1986919 C T SNP PRKCZ ENST00000378567 human ensembl 70_37 +1 known silent c.111 p.F37 0.903 pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 31 9 22.50 57 0 0.00 PRKCZ 5590 genome.wustl.edu 37 1 2087451 2087451 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 2087451 2087451 G A SNP PRKCZ ENST00000378567 human ensembl 70_37 +1 known silent c.894 p.Q298 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 34 16 32.00 43 0 0.00 PRKCZ 5590 genome.wustl.edu 37 1 2116133 2116133 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 2116133 2116133 G A SNP PRKCZ ENST00000378567 human ensembl 70_37 +1 known missense c.1687 p.D563N 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 28 8 22.22 24 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30046497 30046497 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 30046497 30046497 C T SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2686 p.E896K 0.958 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 37 21 36.21 75 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30046635 30046635 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 30046635 30046635 C G SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2548 p.E850Q 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 7 4 36.36 30 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30066829 30066829 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 30066829 30066829 A C SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2302 p.S768A 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 18 9 33.33 50 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30066911 30066911 + Silent SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 30066911 30066911 C A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known silent c.2220 p.R740 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 31 17 35.42 16 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30100144 30100144 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 14 30100144 30100144 G A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known silent c.1476 p.F492 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 22 9 29.03 53 0 0.00 PRKD1 5587 genome.wustl.edu 37 14 30396556 30396556 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 30396556 30396556 T A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.163 p.I55F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 6 4 40.00 11 0 0.00 PRKD2 25865 genome.wustl.edu 37 19 47197277 47197277 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 47197277 47197277 G A SNP PRKD2 ENST00000291281 human ensembl 70_37 -1 known silent c.1431 p.F477 0.953 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 52 19 26.76 63 0 0.00 PRKD2 25865 genome.wustl.edu 37 19 47200444 47200444 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 47200444 47200444 G T SNP PRKD2 ENST00000291281 human ensembl 70_37 -1 known missense c.1287 p.F429L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 30 12 28.57 58 0 0.00 PRKD3 23683 genome.wustl.edu 37 2 37543598 37543598 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 37543598 37543598 G A SNP PRKD3 ENST00000234179 human ensembl 70_37 -1 known missense c.70 p.P24S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 64 18 21.95 60 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48685753 48685754 + RNA INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 48685753 48685754 - A INS PRKDC ENST00000523565 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PRKDC HGNC ENSG00000253729 42 5 10.64 40 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48686800 48686800 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48686800 48686800 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.12318 p.L4106 0.933 pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 27 11 28.95 46 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48694968 48694968 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 48694968 48694968 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.11364 p.R3788 0.095 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 18 6 25.00 38 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48701765 48701765 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 48701765 48701765 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.10702 p.Q3568E 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 55 14 20.29 58 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48701765 48701765 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 48701765 48701765 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.10702 p.Q3568E 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 32 6 15.79 27 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48736444 48736444 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48736444 48736444 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.8894 p.S2965C 1.000 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 32 8 20.00 31 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48740909 48740909 + Splice_Site SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 48740909 48740909 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known splice_site c.8395-1 e63-1 1.000 - - - no_errors PRKDC HGNC ENSG00000253729 22 8 26.67 31 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48751794 48751794 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48751794 48751794 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.7465 p.E2489K 0.994 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 20 20 50.00 18 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48766714 48766714 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 48766714 48766714 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.6820 p.Q2274E 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 41 31 43.06 73 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48776016 48776016 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 48776016 48776016 T C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.5691 p.Q1897 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 50 8 13.79 55 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48777246 48777246 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 48777246 48777246 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.5439 p.F1813 0.027 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 45 14 23.73 38 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48792096 48792096 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 48792096 48792096 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.5188 p.P1730S 0.871 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 23 5 17.86 28 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48792189 48792189 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 48792189 48792189 T C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.5095 p.T1699A 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 8 10 55.56 30 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48794602 48794602 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 48794602 48794602 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.4830 p.Q1610H 0.990 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 170 35 16.91 167 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48794620 48794620 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 48794620 48794620 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.4812 p.F1604 0.997 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 59 39 39.39 73 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48830905 48830905 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 48830905 48830905 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.2458 p.R820W 0.955 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 18 3 14.29 20 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48839863 48839863 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 48839863 48839863 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.2310 p.L770 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 18 11 37.93 36 0 0.00 PRKDC 5591 genome.wustl.edu 37 8 48855777 48855777 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 48855777 48855777 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.958 p.L320V 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 43 6 12.24 34 0 0.00 PRKG1 5592 genome.wustl.edu 37 10 53667321 53667321 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 53667321 53667321 C T SNP PRKG1 ENST00000373980 human ensembl 70_37 +1 known silent c.753 p.V251 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 50 19 27.54 70 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82027008 82027008 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 82027008 82027008 C G SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known missense c.2022 p.K674N 0.973 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 38 19 33.33 28 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82056354 82056354 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 4 82056354 82056354 C T SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known silent c.1731 p.L577 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 31 25 44.64 72 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82056359 82056359 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 82056359 82056359 C A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known missense c.1726 p.D576Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 18 15 45.45 62 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82088333 82088333 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 82088333 82088333 G A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 17 4 18.18 46 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82125986 82125986 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 82125986 82125986 G C SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known silent c.216 p.L72 0.506 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 24 20 45.45 53 0 0.00 PRKG2 5593 genome.wustl.edu 37 4 82126091 82126091 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 82126091 82126091 C A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known missense c.111 p.L37F 1.000 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 8 4 33.33 37 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102004775 102004775 + RNA SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 102004775 102004775 C T SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors PRKRIP1 HGNC ENSG00000128563 54 23 29.87 60 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102006471 102006471 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102006471 102006471 C G SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PRKRIP1 HGNC ENSG00000128563 37 24 39.34 49 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102065520 102065520 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065520 102065520 G A SNP PRKRIP1 ENST00000397912 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 19 23 54.76 31 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102065730 102065730 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065730 102065730 G C SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PRKRIP1 HGNC ENSG00000128563 16 9 36.00 20 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102065804 102065804 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102065804 102065804 G C SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PRKRIP1 HGNC ENSG00000128563 18 17 48.57 27 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102066384 102066384 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 102066384 102066384 G T SNP PRKRIP1 ENST00000482465 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PRKRIP1 HGNC ENSG00000128563 43 43 49.43 63 0 0.00 PRKRIP1 79706 genome.wustl.edu 37 7 102066993 102066993 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 102066993 102066993 G C SNP PRKRIP1 ENST00000482465 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors PRKRIP1 HGNC ENSG00000128563 7 19 73.08 67 0 0.00 PRKRIR 5612 genome.wustl.edu 37 11 76062771 76062771 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 76062771 76062771 A G SNP PRKRIR ENST00000260045 human ensembl 70_37 -1 known missense c.1423 p.S475P 0.978 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 19 14 42.42 49 0 0.00 PRKRIR 5612 genome.wustl.edu 37 11 76063578 76063578 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 76063578 76063578 C G SNP PRKRIR ENST00000260045 human ensembl 70_37 -1 known missense c.616 p.E206Q 1.000 NULL pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 67 22 24.72 90 0 0.00 PRL 5617 genome.wustl.edu 37 6 22287684 22287684 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 22287684 22287684 C T SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.631 p.D211N 0.997 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 20 16 44.44 33 0 0.00 PRL 5617 genome.wustl.edu 37 6 22287704 22287704 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 22287704 22287704 C T SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.611 p.R204H 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 24 6 20.00 40 0 0.00 PRL 5617 genome.wustl.edu 37 6 22294638 22294638 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 22294638 22294638 G A SNP PRL ENST00000306482 human ensembl 70_37 -1 known silent c.204 p.F68 0.997 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 52 18 25.71 50 0 0.00 PRL 5617 genome.wustl.edu 37 6 22294655 22294655 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 22294655 22294655 C G SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.992 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 36 16 30.77 67 0 0.00 PRLH 51052 genome.wustl.edu 37 2 238475280 238475280 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 238475280 238475280 G A SNP PRLH ENST00000165524 human ensembl 70_37 +1 known missense c.64 p.A22T 0.001 NULL NULL - no_errors PRLH HGNC ENSG00000071677 38 21 35.59 46 0 0.00 PRLHR 2834 genome.wustl.edu 37 10 120353959 120353959 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 120353959 120353959 G A SNP PRLHR ENST00000239032 human ensembl 70_37 -1 known silent c.798 p.A266 0.204 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 7 5 41.67 24 0 0.00 PRLHR 2834 genome.wustl.edu 37 10 120354249 120354249 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 120354249 120354249 G A SNP PRLHR ENST00000239032 human ensembl 70_37 -1 known missense c.508 p.R170C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 12 6 33.33 19 0 0.00 PRLR 5618 genome.wustl.edu 37 5 35065310 35065310 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 35065310 35065310 C G SNP PRLR ENST00000382002 human ensembl 70_37 -1 known missense c.1750 p.E584Q 0.001 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 43 14 24.56 72 0 0.00 PRMT1 3276 genome.wustl.edu 37 19 50188017 50188017 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 50188017 50188017 G A SNP PRMT1 ENST00000454376 human ensembl 70_37 +1 known missense c.562 p.D188N 0.677 pfam_Arg_MeTrfase,pfam_Methyltransf_11 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 4 3 42.86 11 0 0.00 PRMT10 90826 genome.wustl.edu 37 4 148563981 148563981 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 148563981 148563981 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known missense c.2156 p.R719H 0.651 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 20 6 23.08 32 0 0.00 PRMT10 90826 genome.wustl.edu 37 4 148594246 148594246 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 148594246 148594246 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known missense c.607 p.V203M 0.998 pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 44 14 24.14 83 0 0.00 PRMT10 90826 genome.wustl.edu 37 4 148605133 148605133 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 148605133 148605133 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known silent c.6 p.S2 0.714 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 44 8 15.38 29 0 0.00 PRMT2 3275 genome.wustl.edu 37 21 48063477 48063477 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 48063477 48063477 G A SNP PRMT2 ENST00000355680 human ensembl 70_37 +1 known missense c.70 p.G24S 0.000 superfamily_SH3_domain pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 59 26 30.59 29 0 0.00 PRMT5 10419 genome.wustl.edu 37 14 23392312 23392312 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 23392312 23392312 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known missense c.1433 p.S478F 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 28 23 45.10 42 0 0.00 PRMT5 10419 genome.wustl.edu 37 14 23394235 23394235 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 23394235 23394235 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known silent c.792 p.F264 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 40 6 12.77 36 0 0.00 PRMT5 10419 genome.wustl.edu 37 14 23398532 23398532 + Silent SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 14 23398532 23398532 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known silent c.39 p.R13 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 88 11 11.11 80 0 0.00 PRMT6 55170 genome.wustl.edu 37 1 107599582 107599582 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 107599582 107599582 G A SNP PRMT6 ENST00000370078 human ensembl 70_37 +1 known missense c.245 p.R82Q 0.993 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 25 7 21.88 30 0 0.00 PRMT7 54496 genome.wustl.edu 37 16 68371361 68371361 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68371361 68371361 G A SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known splice_site c.392-1 e5-1 1.000 - - - no_errors PRMT7 HGNC ENSG00000132600 30 20 40.00 46 0 0.00 PRMT7 54496 genome.wustl.edu 37 16 68371400 68371400 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68371400 68371400 G C SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known missense c.430 p.E144Q 0.999 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 29 19 39.58 48 0 0.00 PRMT7 54496 genome.wustl.edu 37 16 68390620 68390620 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 68390620 68390620 G A SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known missense c.1828 p.A610T 0.833 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 15 2 11.76 33 0 0.00 PRMT8 56341 genome.wustl.edu 37 12 3677981 3677981 + Silent SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 3677981 3677981 C G SNP PRMT8 ENST00000382622 human ensembl 70_37 +1 known silent c.591 p.L197 1.000 pfam_Arg_MeTrfase,pfam_Methyltransf_11 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 38 28 42.42 71 0 0.00 PRMT8 56341 genome.wustl.edu 37 12 3703117 3703117 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 3703117 3703117 C G SNP PRMT8 ENST00000261252 human ensembl 70_37 +1 known rna NULL NULL 0.980 - - - no_errors PRMT8 HGNC ENSG00000111218 21 7 25.00 46 0 0.00 PRND 23627 genome.wustl.edu 37 20 4705251 4705251 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 4705251 4705251 C T SNP PRND ENST00000305817 human ensembl 70_37 +1 known silent c.54 p.F18 0.000 pfam_Doppel pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 39 14 26.42 35 0 0.00 PRND 23627 genome.wustl.edu 37 20 4705593 4705593 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 4705593 4705593 C G SNP PRND ENST00000305817 human ensembl 70_37 +1 known silent c.396 p.L132 0.324 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 52 18 25.71 37 0 0.00 PRNP 5621 genome.wustl.edu 37 20 4680258 4680258 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4680258 4680258 G T SNP PRNP ENST00000379440 human ensembl 70_37 +1 known missense c.392 p.G131V 1.000 superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 127 22 14.77 61 0 0.00 PRNP 5621 genome.wustl.edu 37 20 4680616 4680616 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 4680616 4680616 G C SNP PRNP ENST00000379440 human ensembl 70_37 +1 known silent c.750 p.L250 0.992 pfam_Prion/Doppel_prot_b-ribbon_dom,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 14 15 51.72 46 0 0.00 PROB1 389333 genome.wustl.edu 37 5 138727752 138727752 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 5 138727752 138727752 G T SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.3019 p.P1007T 0.002 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 21 4 16.00 19 0 0.00 PROB1 389333 genome.wustl.edu 37 5 138728516 138728516 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 138728516 138728516 C T SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.2255 p.R752Q 0.000 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 25 13 34.21 37 0 0.00 PROB1 389333 genome.wustl.edu 37 5 138728722 138728722 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 138728722 138728722 G A SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known silent c.2049 p.F683 0.244 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 38 20 34.48 80 0 0.00 PROB1 389333 genome.wustl.edu 37 5 138729801 138729801 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 138729801 138729801 G A SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.970 p.R324W 1.000 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 103 32 23.53 109 0 0.00 PROCA1 147011 genome.wustl.edu 37 17 27030957 27030957 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 27030957 27030957 C G SNP PROCA1 ENST00000439862 human ensembl 70_37 -1 known missense c.636 p.K212N 1.000 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2 - no_errors PROCA1 HGNC ENSG00000167525 57 14 19.72 35 0 0.00 PROCA1 147011 genome.wustl.edu 37 17 27037975 27037975 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27037975 27037975 G A SNP PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROCA1 HGNC ENSG00000167525 16 12 42.86 29 0 0.00 PROCA1 147011 genome.wustl.edu 37 17 27037983 27037983 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27037983 27037983 G A SNP PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROCA1 HGNC ENSG00000167525 14 12 46.15 27 0 0.00 PROCA1 147011 genome.wustl.edu 37 17 27038050 27038051 + RNA INS - - G TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 27038050 27038051 - G INS PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PROCA1 HGNC ENSG00000167525 29 9 23.68 21 0 0.00 PROCR 10544 genome.wustl.edu 37 20 33762727 33762727 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 33762727 33762727 G T SNP PROCR ENST00000216968 human ensembl 70_37 +1 known missense c.293 p.R98L 0.004 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 25 6 19.35 16 0 0.00 PROCR 10544 genome.wustl.edu 37 20 33764059 33764059 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33764059 33764059 G C SNP PROCR ENST00000216968 human ensembl 70_37 +1 known silent c.411 p.G137 0.998 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 11 35 76.09 46 0 0.00 PROCR 10544 genome.wustl.edu 37 20 33764083 33764083 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 33764083 33764083 G A SNP PROCR ENST00000216968 human ensembl 70_37 +1 known silent c.435 p.P145 0.020 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 36 15 29.41 38 0 0.00 PROCR 10544 genome.wustl.edu 37 20 33764165 33764165 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 33764165 33764165 C T SNP PROCR ENST00000216968 human ensembl 70_37 +1 known missense c.517 p.R173C 0.699 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 32 13 28.89 45 0 0.00 PRODH 5625 genome.wustl.edu 37 22 18910643 18910643 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 18910643 18910643 C T SNP PRODH ENST00000357068 human ensembl 70_37 -1 known silent c.717 p.G239 0.997 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC ENSG00000100033 40 11 21.57 33 0 0.00 PRODH 5625 genome.wustl.edu 37 22 18910678 18910678 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 18910678 18910678 C T SNP PRODH ENST00000357068 human ensembl 70_37 -1 known missense c.682 p.D228N 0.828 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC ENSG00000100033 31 6 16.22 24 0 0.00 PRODH2 58510 genome.wustl.edu 37 19 36303700 36303700 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 36303700 36303700 C T SNP PRODH2 ENST00000301175 human ensembl 70_37 -1 known missense c.236 p.R79Q 0.000 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 15 10 40.00 24 0 0.00 PROK1 84432 genome.wustl.edu 37 1 110993841 110993841 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 110993841 110993841 G A SNP PROK1 ENST00000271331 human ensembl 70_37 +1 known missense c.3 p.M1I 0.990 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC ENSG00000143125 33 4 10.81 68 0 0.00 PROKR1 10887 genome.wustl.edu 37 2 68882657 68882657 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 68882657 68882657 G A SNP PROKR1 ENST00000303786 human ensembl 70_37 +1 known silent c.1131 p.K377 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 24 6 20.00 12 0 0.00 PROKR2 128674 genome.wustl.edu 37 20 5294782 5294782 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 5294782 5294782 G A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.234 p.L78 0.193 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 60 13 17.81 85 0 0.00 PROKR2 128674 genome.wustl.edu 37 20 5294944 5294944 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 5294944 5294944 G C SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.72 p.L24 0.368 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 44 36 45.00 61 0 0.00 PROKR2 128674 genome.wustl.edu 37 20 5294961 5294961 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 5294961 5294961 C A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known missense c.55 p.D19Y 0.995 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 43 5 10.42 48 0 0.00 PROKR2 128674 genome.wustl.edu 37 20 5294986 5294986 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 5294986 5294986 G A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.30 p.F10 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 46 23 33.33 63 0 0.00 PROM1 8842 genome.wustl.edu 37 4 15995622 15995622 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 15995622 15995622 G C SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known silent c.1755 p.L585 0.974 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 16 17 51.52 30 0 0.00 PROM1 8842 genome.wustl.edu 37 4 15995625 15995625 + Missense_Mutation SNP A A T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 15995625 15995625 A T SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known missense c.1752 p.H584Q 0.018 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 35 8 18.60 40 0 0.00 PROM1 8842 genome.wustl.edu 37 4 16002130 16002130 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 4 16002130 16002130 C T SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known missense c.1567 p.E523K 0.015 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 24 4 14.29 23 0 0.00 PROM1 8842 genome.wustl.edu 37 4 16025931 16025931 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 16025931 16025931 G C SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known missense c.681 p.F227L 0.000 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 33 22 40.00 71 0 0.00 PROM2 150696 genome.wustl.edu 37 2 95940418 95940418 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 95940418 95940418 G C SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.85 p.D29H 0.416 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 20 13 39.39 39 0 0.00 PROM2 150696 genome.wustl.edu 37 2 95940548 95940548 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 95940548 95940548 C G SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.215 p.S72W 0.544 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 202 84 29.37 339 0 0.00 PROM2 150696 genome.wustl.edu 37 2 95943221 95943221 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 95943221 95943221 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known silent c.882 p.L294 0.013 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 25 5 16.67 27 0 0.00 PROM2 150696 genome.wustl.edu 37 2 95947744 95947744 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 95947744 95947744 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known silent c.1623 p.I541 0.984 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 64 38 36.89 89 0 0.00 PROM2 150696 genome.wustl.edu 37 2 95950732 95950732 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 95950732 95950732 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.1744 p.R582W 0.001 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 47 25 34.72 51 0 0.00 PROP1 5626 genome.wustl.edu 37 5 177419783 177419783 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 177419783 177419783 G A SNP PROP1 ENST00000308304 human ensembl 70_37 -1 known missense c.608 p.A203V 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 14 4 22.22 26 0 0.00 PROS1 5627 genome.wustl.edu 37 3 93595938 93595938 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 93595938 93595938 C T SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known missense c.1742 p.R581K 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 68 33 32.67 122 0 0.00 PROS1 5627 genome.wustl.edu 37 3 93624964 93624964 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 93624964 93624964 G A SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known silent c.370 p.L124 0.974 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 27 3 10.00 34 0 0.00 PROS1 5627 genome.wustl.edu 37 3 93646133 93646133 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 93646133 93646133 T C SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known silent c.195 p.K65 1.000 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 69 59 46.09 109 0 0.00 PROS1 5627 genome.wustl.edu 37 3 93692591 93692591 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 93692591 93692591 C G SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 14 4 22.22 20 0 0.00 PROSAPIP1 9762 genome.wustl.edu 37 20 3146539 3146539 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 3146539 3146539 G A SNP PROSAPIP1 ENST00000329152 human ensembl 70_37 -1 known silent c.927 p.F309 0.994 NULL pfam_Fez1 - no_errors PROSAPIP1 Uniprot_genename ENSG00000088899 7 3 30.00 12 0 0.00 PROSC 11212 genome.wustl.edu 37 8 37620216 37620216 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 37620216 37620216 C T SNP PROSC ENST00000328195 human ensembl 70_37 +1 known silent c.39 p.V13 0.917 pirsf_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 13 13 50.00 27 0 0.00 PROSC 11212 genome.wustl.edu 37 8 37630362 37630362 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 37630362 37630362 G A SNP PROSC ENST00000328195 human ensembl 70_37 +1 known missense c.409 p.E137K 0.978 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 145 35 19.44 141 0 0.00 PROSC 11212 genome.wustl.edu 37 8 37633451 37633451 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 37633451 37633451 C T SNP PROSC ENST00000328195 human ensembl 70_37 +1 known missense c.613 p.R205W 1.000 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 43 16 26.67 59 0 0.00 PROSER1 80209 genome.wustl.edu 37 13 39587134 39587134 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 39587134 39587134 G C SNP PROSER1 ENST00000350125 human ensembl 70_37 -1 known missense c.2189 p.S730C 0.376 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 28 13 31.71 65 0 0.00 PROSER1 80209 genome.wustl.edu 37 13 39608335 39608336 + Splice_Site INS - - A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 13 39608335 39608336 - A INS PROSER1 ENST00000352251 human ensembl 70_37 -1 novel splice_site_ins c.46-3_46-2 e2-2 1.000:0.899 - - - no_errors PROSER1 HGNC ENSG00000120685 17 3 15.00 21 0 0.00 PROX1 5629 genome.wustl.edu 37 1 214170276 214170276 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 214170276 214170276 C G SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known nonsense c.398 p.S133* 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 23 16 41.03 36 0 0.00 PROX1 5629 genome.wustl.edu 37 1 214170608 214170608 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214170608 214170608 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 50 8 13.79 53 0 0.00 PROX1 5629 genome.wustl.edu 37 1 214170875 214170875 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214170875 214170875 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.997 p.E333Q 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 37 14 27.45 53 0 0.00 PROX1 5629 genome.wustl.edu 37 1 214171342 214171342 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214171342 214171342 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.1464 p.L488F 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 110 27 19.71 120 0 0.00 PROX1-AS1 100505832 genome.wustl.edu 37 1 214152667 214152667 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 214152667 214152667 G A SNP PROX1-AS1 ENST00000598091 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROX1-AS1 HGNC ENSG00000230461 65 12 15.58 42 0 0.00 PROX2 283571 genome.wustl.edu 37 14 75323691 75323691 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75323691 75323691 C T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known missense c.1421 p.R474H 1.000 pfam_Prox1,superfamily_Homeodomain-like pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 18 6 25.00 37 0 0.00 PROX2 283571 genome.wustl.edu 37 14 75329296 75329296 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 75329296 75329296 C T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known silent c.1242 p.S414 0.000 NULL pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 62 9 12.68 50 0 0.00 PROX2 283571 genome.wustl.edu 37 14 75329962 75329962 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 75329962 75329962 G T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known missense c.576 p.H192Q 0.000 NULL pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 22 8 26.67 17 0 0.00 PRPF18 8559 genome.wustl.edu 37 10 13629114 13629114 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 13629114 13629114 C A SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known silent c.28 p.R10 0.995 NULL pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 72 45 38.46 98 0 0.00 PRPF18 8559 genome.wustl.edu 37 10 13652056 13652056 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 13652056 13652056 G C SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known missense c.381 p.L127F 0.998 smart_SFM pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 33 9 21.43 44 0 0.00 PRPF18 8559 genome.wustl.edu 37 10 13658486 13658486 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 13658486 13658486 G A SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known missense c.881 p.R294K 0.711 pfam_Prp18,superfamily_Prp18 pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 24 18 42.86 33 0 0.00 PRPF19 27339 genome.wustl.edu 37 11 60666347 60666347 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 60666347 60666347 C G SNP PRPF19 ENST00000227524 human ensembl 70_37 -1 known missense c.1041 p.E347D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 19 9 32.14 27 0 0.00 PRPF3 9129 genome.wustl.edu 37 1 150305545 150305545 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 150305545 150305545 G C SNP PRPF3 ENST00000324862 human ensembl 70_37 +1 known missense c.603 p.E201D 0.992 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC ENSG00000117360 21 11 34.38 66 0 0.00 PRPF3 9129 genome.wustl.edu 37 1 150307413 150307413 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 150307413 150307413 G C SNP PRPF3 ENST00000324862 human ensembl 70_37 +1 known missense c.736 p.E246Q 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC ENSG00000117360 24 7 22.58 27 0 0.00 PRPF31 26121 genome.wustl.edu 37 19 54627905 54627905 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54627905 54627905 C T SNP PRPF31 ENST00000321030 human ensembl 70_37 +1 known missense c.725 p.S242F 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 99 19 16.10 134 1 0.74 PRPF31 26121 genome.wustl.edu 37 19 54629910 54629910 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 54629910 54629910 G A SNP PRPF31 ENST00000321030 human ensembl 70_37 +1 known missense c.863 p.R288Q 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 22 11 33.33 40 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52870415 52870415 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 52870415 52870415 T G SNP PRPF38A ENST00000474048 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors PRPF38A HGNC ENSG00000134748 15 12 44.44 38 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52878201 52878201 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 52878201 52878201 G C SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known missense c.514 p.E172Q 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 52 6 10.34 40 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52882338 52882338 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 52882338 52882338 G C SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known missense c.915 p.K305N 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 46 12 20.34 53 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52882338 52882338 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 52882338 52882338 G A SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 15 19 55.88 24 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52882347 52882347 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 52882347 52882347 G C SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known silent c.924 p.R308 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 48 13 21.31 51 0 0.00 PRPF38A 84950 genome.wustl.edu 37 1 52882504 52882504 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 52882504 52882504 G A SNP PRPF38A ENST00000474048 human ensembl 70_37 +1 known rna NULL NULL 0.914 - - - no_errors PRPF38A HGNC ENSG00000134748 15 11 42.31 18 0 0.00 PRPF38B 55119 genome.wustl.edu 37 1 109241261 109241261 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 109241261 109241261 G A SNP PRPF38B ENST00000370025 human ensembl 70_37 +1 known missense c.594 p.M198I 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 48 23 32.39 63 0 0.00 PRPF39 55015 genome.wustl.edu 37 14 45564749 45564749 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 45564749 45564749 C T SNP PRPF39 ENST00000355765 human ensembl 70_37 +1 known nonsense c.307 p.Q103* 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 11 5 31.25 17 0 0.00 PRPF4 9128 genome.wustl.edu 37 9 116039003 116039003 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 116039003 116039003 C T SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.206 p.S69F 1.000 NULL pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 28 17 37.78 29 0 0.00 PRPF4 9128 genome.wustl.edu 37 9 116041407 116041407 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116041407 116041407 G C SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_PRP4,smart_SFM pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 40 13 24.53 30 0 0.00 PRPF4 9128 genome.wustl.edu 37 9 116045017 116045017 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 116045017 116045017 G C SNP PRPF4 ENST00000488937 human ensembl 70_37 +1 known rna NULL NULL 0.620 - - - no_errors PRPF4 HGNC ENSG00000136875 12 6 33.33 17 0 0.00 PRPF4 9128 genome.wustl.edu 37 9 116045409 116045409 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 116045409 116045409 C T SNP PRPF4 ENST00000488937 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors PRPF4 HGNC ENSG00000136875 31 14 31.11 45 0 0.00 PRPF4 9128 genome.wustl.edu 37 9 116048568 116048568 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116048568 116048568 G A SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.809 p.R270Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 39 16 28.57 60 0 0.00 PRPF40A 55660 genome.wustl.edu 37 2 153515691 153515691 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 153515691 153515691 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known missense c.2422 p.D808N 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP - no_errors PRPF40A HGNC ENSG00000196504 31 4 11.43 63 0 0.00 PRPF40A 55660 genome.wustl.edu 37 2 153526757 153526757 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 153526757 153526757 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known missense c.1618 p.E540K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP - no_errors PRPF40A HGNC ENSG00000196504 35 13 27.08 88 0 0.00 PRPF40A 55660 genome.wustl.edu 37 2 153533990 153533990 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 153533990 153533990 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known splice_site c.632-1 e9-1 1.000 - - - no_errors PRPF40A HGNC ENSG00000196504 34 11 24.44 32 0 0.00 PRPF40B 25766 genome.wustl.edu 37 12 50025307 50025307 + Missense_Mutation SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 12 50025307 50025307 G T SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.142 p.A48S 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 20 13 39.39 47 0 0.00 PRPF40B 25766 genome.wustl.edu 37 12 50025316 50025316 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50025316 50025316 C T SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.151 p.P51S 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 29 5 14.71 33 0 0.00 PRPF40B 25766 genome.wustl.edu 37 12 50027802 50027802 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 12 50027802 50027802 G A SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.673 p.D225N 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 42 44 51.16 64 0 0.00 PRPF40B 25766 genome.wustl.edu 37 12 50028990 50028990 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 50028990 50028990 G A SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known silent c.1044 p.Q348 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 35 17 32.69 39 0 0.00 PRPF40B 25766 genome.wustl.edu 37 12 50029253 50029253 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50029253 50029253 G T SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.1206 p.E402D 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 7 7 50.00 13 0 0.00 PRPF4B 8899 genome.wustl.edu 37 6 4037792 4037792 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 4037792 4037792 C T SNP PRPF4B ENST00000337659 human ensembl 70_37 +1 known missense c.1400 p.S467F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRPF4B HGNC ENSG00000112739 20 9 31.03 20 0 0.00 PRPF4B 8899 genome.wustl.edu 37 6 4058961 4058961 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 4058961 4058961 G A SNP PRPF4B ENST00000337659 human ensembl 70_37 +1 known splice_site c.2734-1 e14-1 1.000 - - - no_errors PRPF4B HGNC ENSG00000112739 59 26 30.59 99 0 0.00 PRPF6 24148 genome.wustl.edu 37 20 62632587 62632587 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 20 62632587 62632587 G A SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known missense c.1181 p.R394Q 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 58 9 13.43 38 0 0.00 PRPF6 24148 genome.wustl.edu 37 20 62654202 62654202 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 62654202 62654202 C T SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known silent c.1740 p.A580 0.003 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 84 12 12.50 76 0 0.00 PRPF6 24148 genome.wustl.edu 37 20 62660803 62660803 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 62660803 62660803 G C SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known missense c.2505 p.K835N 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 95 37 28.03 120 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1554817 1554817 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 1554817 1554817 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.6541 p.Q2181E 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 30 16 34.78 39 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1554945 1554945 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 1554945 1554945 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6507 p.L2169 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 17 12 41.38 29 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1556852 1556852 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 1556852 1556852 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.6353 p.S2118C 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 66 8 10.81 95 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1556890 1556890 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 1556890 1556890 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6315 p.I2105 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 52 36 40.45 100 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1557268 1557268 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 1557268 1557268 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6030 p.I2010 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 50 32 39.02 105 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1558693 1558693 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 1558693 1558693 C T SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5938 p.E1980K 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 168 99 37.08 259 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1560004 1560004 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 1560004 1560004 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5557 p.P1853S 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 34 11 24.44 27 0 0.00 PRPF8 10594 genome.wustl.edu 37 17 1561948 1561948 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 1561948 1561948 C G SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5248 p.G1750R 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 35 19 35.19 52 0 0.00 PRPH 5630 genome.wustl.edu 37 12 49689217 49689217 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49689217 49689217 C G SNP PRPH ENST00000257860 human ensembl 70_37 +1 known silent c.234 p.L78 0.972 pfam_Intermed_filament_DNA-bd pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 14 13 48.15 22 0 0.00 PRPH 5630 genome.wustl.edu 37 12 49691261 49691261 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 49691261 49691261 C T SNP PRPH ENST00000257860 human ensembl 70_37 +1 known missense c.1118 p.A373V 1.000 pfam_F,prints_Keratin_I pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 26 11 29.73 64 0 0.00 PRPH2 5961 genome.wustl.edu 37 6 42672348 42672348 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42672348 42672348 G C SNP PRPH2 ENST00000230381 human ensembl 70_37 -1 known missense c.583 p.R195G 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 51 29 36.25 40 0 0.00 PRPS2 5634 genome.wustl.edu 37 X 12828219 12828219 + Missense_Mutation SNP T T A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 12828219 12828219 T A SNP PRPS2 ENST00000398491 human ensembl 70_37 +1 known missense c.493 p.W165R 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 57 36 38.71 80 0 0.00 PRPS2 5634 genome.wustl.edu 37 X 12838851 12838851 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 12838851 12838851 G T SNP PRPS2 ENST00000398491 human ensembl 70_37 +1 known missense c.802 p.A268S 0.185 tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 32 7 17.95 22 0 0.00 PRPSAP1 5635 genome.wustl.edu 37 17 74324917 74324917 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 74324917 74324917 C T SNP PRPSAP1 ENST00000446526 human ensembl 70_37 -1 known missense c.662 p.R221H 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 96 23 19.33 95 0 0.00 PRPSAP2 5636 genome.wustl.edu 37 17 18832268 18832268 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 18832268 18832268 G C SNP PRPSAP2 ENST00000268835 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 45 26 36.62 66 0 0.00 PRR11 55771 genome.wustl.edu 37 17 57270858 57270858 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 57270858 57270858 C T SNP PRR11 ENST00000262293 human ensembl 70_37 +1 known silent c.408 p.I136 0.700 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 33 15 31.25 38 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50098327 50098327 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50098327 50098327 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.735 p.F245L 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 19 4 17.39 30 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50100877 50100877 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 50100877 50100877 C A SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel nonsense c.3285 p.Y1095* 0.795 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 18 15 45.45 32 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50102572 50102572 + Nonsense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 50102572 50102572 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel nonsense c.3722 p.S1241* 0.001 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 17 12 41.38 18 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50104804 50104804 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50104804 50104804 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.4402 p.Q1468E 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 17 4 19.05 14 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50105124 50105124 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 50105124 50105124 C T SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel silent c.4722 p.F1574 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 2 8 80.00 20 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50119035 50119035 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 50119035 50119035 G T SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5056 p.A1686S 0.003 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 22 3 12.00 71 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50119130 50119130 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50119130 50119130 G C SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5151 p.Q1717H 0.241 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 56 24 30.00 80 0 0.00 PRR12 57479 genome.wustl.edu 37 19 50119194 50119194 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50119194 50119194 G C SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5215 p.E1739Q 0.993 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 99 33 25.00 111 0 0.00 PRR13 54458 genome.wustl.edu 37 12 53839824 53839824 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 53839824 53839824 C T SNP PRR13 ENST00000429243 human ensembl 70_37 +1 known missense c.428 p.S143F 1.000 NULL NULL - no_errors PRR13 HGNC ENSG00000205352 49 23 31.94 67 0 0.00 PRR14 78994 genome.wustl.edu 37 16 30663238 30663238 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30663238 30663238 C G SNP PRR14 ENST00000300835 human ensembl 70_37 +1 known missense c.145 p.R49G 1.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 50 35 41.18 74 0 0.00 PRR14 78994 genome.wustl.edu 37 16 30666707 30666707 + Nonsense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 30666707 30666707 C G SNP PRR14 ENST00000300835 human ensembl 70_37 +1 known nonsense c.1280 p.S427* 0.484 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 22 6 21.43 29 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32108390 32108390 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 32108390 32108390 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.5435 p.R1812T 1.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 14 13 48.15 30 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32109761 32109761 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 32109761 32109761 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.4064 p.S1355C 0.011 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 33 18 35.29 33 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32111360 32111360 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111360 32111360 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.2465 p.T822R 0.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 10 49 83.05 68 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32111816 32111816 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111816 32111816 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.2009 p.S670C 0.006 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 7 41 85.42 70 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32111844 32111844 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111844 32111844 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.1981 p.Q661E 0.320 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 8 33 80.49 58 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32112817 32112817 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 32112817 32112817 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.1008 p.L336F 0.002 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 66 37 35.92 62 0 0.00 PRR14L 253143 genome.wustl.edu 37 22 32113264 32113264 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 32113264 32113264 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.561 p.Q187H 0.996 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 58 26 30.95 63 0 0.00 PRR15 222171 genome.wustl.edu 37 7 29606289 29606289 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 7 29606289 29606289 C T SNP PRR15 ENST00000319694 human ensembl 70_37 +1 known missense c.344 p.P115L 0.005 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 28 7 20.00 38 0 0.00 PRR16 51334 genome.wustl.edu 37 5 119800238 119800238 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 119800238 119800238 G T SNP PRR16 ENST00000407149 human ensembl 70_37 +1 known silent c.57 p.P19 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 48 6 11.11 36 0 0.00 PRR19 284338 genome.wustl.edu 37 19 42814499 42814499 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 42814499 42814499 G C SNP PRR19 ENST00000341747 human ensembl 70_37 +1 known missense c.678 p.E226D 0.595 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 35 10 22.22 31 0 0.00 PRR21 643905 genome.wustl.edu 37 2 240982052 240982052 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 240982052 240982052 C G SNP PRR21 ENST00000408934 human ensembl 70_37 -1 known silent c.348 p.S116 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 16 5 22.73 9 0 0.00 PRR22 163154 genome.wustl.edu 37 19 5783184 5783184 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 5783184 5783184 G A SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known silent c.1074 p.F358 1.000 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 33 5 13.16 24 0 0.00 PRR22 163154 genome.wustl.edu 37 19 5783426 5783426 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5783426 5783426 A C SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known missense c.832 p.L278V 0.001 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 53 9 14.52 60 0 0.00 PRR22 163154 genome.wustl.edu 37 19 5783499 5783499 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 5783499 5783499 G C SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known silent c.759 p.L253 0.001 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 19 3 13.64 26 0 0.00 PRR23B 389151 genome.wustl.edu 37 3 138738973 138738973 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 138738973 138738973 C T SNP PRR23B ENST00000329447 human ensembl 70_37 -1 known silent c.531 p.G177 0.002 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 56 8 12.50 58 0 0.00 PRR23B 389151 genome.wustl.edu 37 3 138739178 138739178 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 138739178 138739178 T C SNP PRR23B ENST00000329447 human ensembl 70_37 -1 known missense c.326 p.D109G 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 38 23 37.70 33 0 0.00 PRR23C 389152 genome.wustl.edu 37 3 138763254 138763254 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 138763254 138763254 C T SNP PRR23C ENST00000413199 human ensembl 70_37 -1 known missense c.209 p.R70H 0.017 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 31 38 55.07 65 0 0.00 PRR25 388199 genome.wustl.edu 37 16 863350 863350 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 863350 863350 C T SNP PRR25 ENST00000301698 human ensembl 70_37 +1 known missense c.698 p.P233L 0.005 NULL NULL - no_errors PRR25 HGNC ENSG00000167945 3 5 62.50 10 0 0.00 PRR3 80742 genome.wustl.edu 37 6 30525127 30525127 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30525127 30525127 G A SNP PRR3 ENST00000376560 human ensembl 70_37 +1 known silent c.6 p.P2 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC ENSG00000204576 13 10 43.48 21 0 0.00 PRR3 80742 genome.wustl.edu 37 6 30525185 30525185 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30525185 30525185 G T SNP PRR3 ENST00000376560 human ensembl 70_37 +1 known nonsense c.64 p.E22* 0.973 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC ENSG00000204576 17 3 15.00 26 0 0.00 PRR3 80742 genome.wustl.edu 37 6 30531427 30531428 + RNA INS - - T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30531427 30531428 - T INS PRR3 ENST00000481741 human ensembl 70_37 +1 known rna NULL NULL 0.021:0.005 - - - no_errors PRR3 HGNC ENSG00000204576 33 4 10.81 14 0 0.00 PRR3 80742 genome.wustl.edu 37 6 30531428 30531428 + RNA DEL T T - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 30531428 30531428 T - DEL PRR3 ENST00000481741 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors PRR3 HGNC ENSG00000204576 18 3 14.29 20 0 0.00 PRR4 11272 genome.wustl.edu 37 12 11001055 11001055 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11001055 11001055 C T SNP PRR4 ENST00000539285 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors PRR4 HGNC ENSG00000111215 22 11 33.33 39 0 0.00 PRR5 55615 genome.wustl.edu 37 22 45132663 45132663 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45132663 45132663 C T SNP PRR5 ENST00000336985 human ensembl 70_37 +1 known missense c.703 p.L235F 0.043 NULL pfam_HbrB - no_errors PRR5 HGNC ENSG00000186654 80 75 48.39 119 0 0.00 PRR5L 79899 genome.wustl.edu 37 11 36472765 36472765 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 36472765 36472765 C T SNP PRR5L ENST00000378867 human ensembl 70_37 +1 known missense c.592 p.H198Y 1.000 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 128 39 23.35 184 1 0.54 PRR5L 79899 genome.wustl.edu 37 11 36476882 36476882 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 36476882 36476882 G A SNP PRR5L ENST00000530627 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRR5L HGNC ENSG00000135362 15 9 37.50 25 0 0.00 PRR5L 79899 genome.wustl.edu 37 11 36476993 36476993 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 36476993 36476993 C G SNP PRR5L ENST00000530627 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PRR5L HGNC ENSG00000135362 34 10 22.73 24 0 0.00 PRR5L 79899 genome.wustl.edu 37 11 36484190 36484190 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 36484190 36484190 C T SNP PRR5L ENST00000378867 human ensembl 70_37 +1 known silent c.1011 p.S337 1.000 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 21 15 41.67 54 0 0.00 PRR7 80758 genome.wustl.edu 37 5 176882210 176882210 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 176882210 176882210 G C SNP PRR7 ENST00000323249 human ensembl 70_37 +1 known missense c.142 p.E48Q 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors PRR7 HGNC ENSG00000131188 13 6 31.58 27 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31591540 31591540 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 31591540 31591540 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known silent c.144 p.G48 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 44 33 42.86 67 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31595578 31595578 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 31595578 31595578 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1327 p.E443K 0.999 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 24 12 33.33 34 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31595770 31595770 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 31595770 31595770 G C SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1519 p.E507Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 30 20 40.00 50 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31597075 31597075 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31597075 31597075 G T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1920 p.Q640H 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 9 46 83.64 68 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31598979 31598979 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31598979 31598979 G C SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.2529 p.E843D 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 2 24 92.31 37 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31599370 31599370 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 31599370 31599370 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.2920 p.E974K 0.998 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 38 13 25.49 41 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31600193 31600193 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 31600193 31600193 C T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.3743 p.A1248V 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 56 9 13.85 92 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31600440 31600440 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31600440 31600440 C T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known silent c.3990 p.F1330 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 9 14 60.87 29 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31603372 31603372 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31603372 31603372 C G SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known nonsense c.5387 p.S1796* 0.910 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 20 11 35.48 12 0 0.00 PRRC2A 7916 genome.wustl.edu 37 6 31605302 31605302 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 31605302 31605302 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.6413 p.R2138Q 0.410 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 76 41 35.04 128 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134322565 134322565 + Nonsense_Mutation SNP A A T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 134322565 134322565 A T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known nonsense c.949 p.R317* 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 12 11 47.83 41 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134343102 134343102 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 134343102 134343102 C A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.1873 p.P625T 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 31 11 26.19 57 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134348985 134348985 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134348985 134348985 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2198 p.R733T 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 50 10 16.67 60 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134349046 134349046 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134349046 134349046 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2259 p.Q753H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 46 9 16.36 46 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134349845 134349845 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134349845 134349845 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2329 p.E777Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 44 22 33.33 44 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134350562 134350562 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134350562 134350562 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.3046 p.E1016K 0.769 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 42 23 35.38 49 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134351139 134351139 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 134351139 134351139 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.3623 p.R1208Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 28 17 37.78 35 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134353258 134353258 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 134353258 134353258 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.4534 p.E1512K 0.991 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 31 15 32.61 33 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134353258 134353258 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 134353258 134353258 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.4534 p.E1512K 0.991 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 33 27 45.00 62 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134362574 134362574 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 134362574 134362574 C T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known silent c.5877 p.I1959 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 48 17 26.15 51 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134362661 134362661 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 134362661 134362661 C T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known silent c.5964 p.F1988 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 19 14 42.42 27 0 0.00 PRRC2B 84726 genome.wustl.edu 37 9 134366255 134366255 + RNA SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 9 134366255 134366255 C G SNP PRRC2B ENST00000465931 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PRRC2B HGNC ENSG00000130723 25 23 47.92 20 0 0.00 PRRC2C 23215 genome.wustl.edu 37 1 171454842 171454842 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 171454842 171454842 C G SNP PRRC2C ENST00000467601 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRRC2C HGNC ENSG00000117523 4 5 55.56 10 0 0.00 PRRC2C 23215 genome.wustl.edu 37 1 171504696 171504696 + Missense_Mutation SNP A A T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 171504696 171504696 A T SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.2003 p.Q668L 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 20 4 16.67 49 0 0.00 PRRC2C 23215 genome.wustl.edu 37 1 171509483 171509483 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 171509483 171509483 G C SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.2878 p.E960Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 12 8 40.00 22 0 0.00 PRRC2C 23215 genome.wustl.edu 37 1 171509776 171509776 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 171509776 171509776 G C SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.3171 p.K1057N 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 17 9 34.62 28 0 0.00 PRRC2C 23215 genome.wustl.edu 37 1 171526764 171526764 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 171526764 171526764 C G SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known nonsense c.5513 p.S1838* 0.032 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 49 29 36.71 68 0 0.00 PRRG1 5638 genome.wustl.edu 37 X 37208597 37208597 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 37208597 37208597 G A SNP PRRG1 ENST00000491253 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors PRRG1 HGNC ENSG00000130962 14 7 33.33 10 0 0.00 PRRG1 5638 genome.wustl.edu 37 X 37312502 37312502 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 37312502 37312502 C G SNP PRRG1 ENST00000378628 human ensembl 70_37 +1 known silent c.285 p.L95 0.996 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 54 10 15.38 51 0 0.00 PRRG1 5638 genome.wustl.edu 37 X 37312800 37312800 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 37312800 37312800 G A SNP PRRG1 ENST00000378628 human ensembl 70_37 +1 known missense c.583 p.E195K 0.892 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 77 9 10.34 95 0 0.00 PRRG2 5639 genome.wustl.edu 37 19 50086923 50086923 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50086923 50086923 G T SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.210 p.E70D 0.398 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 13 14 51.85 33 0 0.00 PRRG2 5639 genome.wustl.edu 37 19 50093638 50093638 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 50093638 50093638 C G SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.601 p.P201A 0.010 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 177 120 40.13 324 0 0.00 PRRG2 5639 genome.wustl.edu 37 19 50093638 50093638 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 50093638 50093638 C G SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.601 p.P201A 0.010 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 32 23 41.82 26 0 0.00 PRRG3 79057 genome.wustl.edu 37 X 150869355 150869355 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 150869355 150869355 C G SNP PRRG3 ENST00000370353 human ensembl 70_37 +1 known silent c.546 p.L182 0.705 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 74 35 31.82 131 0 0.00 PRRT1 80863 genome.wustl.edu 37 6 32116549 32116549 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 32116549 32116549 G A SNP PRRT1 ENST00000467780 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PRRT1 HGNC ENSG00000204314 46 15 24.59 92 0 0.00 PRRT1 80863 genome.wustl.edu 37 6 32117007 32117007 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32117007 32117007 C T SNP PRRT1 ENST00000211413 human ensembl 70_37 -1 known missense c.913 p.D305N 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT1 HGNC ENSG00000204314 57 21 26.92 51 0 0.00 PRRT2 112476 genome.wustl.edu 37 16 29824354 29824354 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 29824354 29824354 C G SNP PRRT2 ENST00000567551 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors PRRT2 HGNC ENSG00000167371 17 18 51.43 40 0 0.00 PRRT2 112476 genome.wustl.edu 37 16 29825094 29825094 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 29825094 29825094 G A SNP PRRT2 ENST00000567659 human ensembl 70_37 +1 known missense c.719 p.R240Q 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT2 HGNC ENSG00000167371 29 23 44.23 73 0 0.00 PRRT4 401399 genome.wustl.edu 37 7 127990931 127990931 + Silent SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 127990931 127990931 G T SNP PRRT4 ENST00000446477 human ensembl 70_37 -1 known silent c.2679 p.G893 1.000 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 32 4 11.11 25 0 0.00 PRRT4 401399 genome.wustl.edu 37 7 127992694 127992694 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 127992694 127992694 G A SNP PRRT4 ENST00000446477 human ensembl 70_37 -1 known missense c.916 p.P306S 0.093 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 32 14 30.43 44 0 0.00 PRRX1 5396 genome.wustl.edu 37 1 170688882 170688882 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 170688882 170688882 C T SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known missense c.257 p.S86L 1.000 superfamily_Homeodomain-like pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 51 17 25.00 45 0 0.00 PRRX1 5396 genome.wustl.edu 37 1 170695370 170695370 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 170695370 170695370 C T SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known nonsense c.427 p.Q143* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 37 15 28.85 44 0 0.00 PRRX1 5396 genome.wustl.edu 37 1 170699449 170699449 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 170699449 170699449 G A SNP PRRX1 ENST00000367760 human ensembl 70_37 +1 known missense c.631 p.E211K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 89 21 19.09 59 0 0.00 PRRX1 5396 genome.wustl.edu 37 1 170705270 170705270 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 170705270 170705270 G C SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known silent c.681 p.L227 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 152 116 43.12 239 0 0.00 PRRX2 51450 genome.wustl.edu 37 9 132482886 132482886 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 132482886 132482886 G C SNP PRRX2 ENST00000372469 human ensembl 70_37 +1 known missense c.459 p.Q153H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX2 HGNC ENSG00000167157 91 48 34.53 104 0 0.00 PRSS1 5644 genome.wustl.edu 37 7 142458938 142458938 + Missense_Mutation SNP T T A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 142458938 142458938 T A SNP PRSS1 ENST00000486171 human ensembl 70_37 +1 novel missense c.219 p.F73L 0.043 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 12 6 33.33 27 0 0.00 PRSS1 5644 genome.wustl.edu 37 7 142459659 142459659 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 142459659 142459659 G T SNP PRSS1 ENST00000311737 human ensembl 70_37 +1 known nonsense c.235 p.E79* 0.373 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 42 26 38.24 107 0 0.00 PRSS12 8492 genome.wustl.edu 37 4 119204248 119204248 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 119204248 119204248 C T SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known silent c.2058 p.R686 0.989 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 30 20 40.00 39 0 0.00 PRSS12 8492 genome.wustl.edu 37 4 119239689 119239689 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 119239689 119239689 G C SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known missense c.994 p.Q332E 0.480 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 22 16 42.11 17 0 0.00 PRSS12 8492 genome.wustl.edu 37 4 119259365 119259365 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 119259365 119259365 C G SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known missense c.607 p.D203H 0.177 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 26 21 44.68 71 0 0.00 PRSS16 10279 genome.wustl.edu 37 6 27218887 27218887 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 27218887 27218887 G A SNP PRSS16 ENST00000230582 human ensembl 70_37 +1 known missense c.658 p.E220K 0.729 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 76 27 26.21 91 0 0.00 PRSS23 11098 genome.wustl.edu 37 11 86519256 86519256 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 86519256 86519256 C T SNP PRSS23 ENST00000280258 human ensembl 70_37 +1 known nonsense c.571 p.R191* 0.893 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS23 HGNC ENSG00000150687 5 3 37.50 19 0 0.00 PRSS23 11098 genome.wustl.edu 37 11 86519623 86519623 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 86519623 86519623 C T SNP PRSS23 ENST00000280258 human ensembl 70_37 +1 known missense c.938 p.P313L 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS23 HGNC ENSG00000150687 27 16 37.21 29 0 0.00 PRSS3 5646 genome.wustl.edu 37 9 33794809 33794809 + Missense_Mutation SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 9 33794809 33794809 G A SNP PRSS3 ENST00000342836 human ensembl 70_37 +1 known missense c.20 p.S7N 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 17 5 22.73 31 0 0.00 PRSS3 5646 genome.wustl.edu 37 9 33794812 33794812 + Missense_Mutation SNP G G T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 9 33794812 33794812 G T SNP PRSS3 ENST00000342836 human ensembl 70_37 +1 known missense c.23 p.G8V 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 17 5 22.73 30 0 0.00 PRSS35 167681 genome.wustl.edu 37 6 84234251 84234251 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 84234251 84234251 G A SNP PRSS35 ENST00000369700 human ensembl 70_37 +1 known missense c.1091 p.R364H 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS35 HGNC ENSG00000146250 24 22 47.83 51 0 0.00 PRSS36 146547 genome.wustl.edu 37 16 31150460 31150460 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31150460 31150460 C T SNP PRSS36 ENST00000268281 human ensembl 70_37 -1 known silent c.2567 p.*856 0.988 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_polyserase-2,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS36 HGNC ENSG00000178226 43 11 20.00 46 0 0.00 PRSS37 136242 genome.wustl.edu 37 7 141539208 141539208 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 141539208 141539208 G A SNP PRSS37 ENST00000350549 human ensembl 70_37 -1 known missense c.106 p.H36Y 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS37 HGNC ENSG00000165076 22 21 48.84 58 0 0.00 PRSS38 339501 genome.wustl.edu 37 1 228003518 228003518 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228003518 228003518 T C SNP PRSS38 ENST00000366757 human ensembl 70_37 +1 known missense c.101 p.V34A 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS38 HGNC ENSG00000185888 23 11 32.35 44 0 0.00 PRSS38 339501 genome.wustl.edu 37 1 228003831 228003831 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 228003831 228003831 C T SNP PRSS38 ENST00000366757 human ensembl 70_37 +1 known silent c.189 p.G63 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS38 HGNC ENSG00000185888 160 20 10.87 135 0 0.00 PRSS41 360226 genome.wustl.edu 37 16 2854483 2854483 + RNA SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 2854483 2854483 G A SNP PRSS41 ENST00000399677 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRSS41 HGNC ENSG00000215148 37 39 51.32 29 0 0.00 PRSS48 345062 genome.wustl.edu 37 4 152198351 152198351 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 152198351 152198351 G A SNP PRSS48 ENST00000455694 human ensembl 70_37 +1 known silent c.27 p.T9 0.001 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS48 HGNC ENSG00000189099 39 10 20.41 73 0 0.00 PRSS50 29122 genome.wustl.edu 37 3 46759249 46759249 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 46759249 46759249 G A SNP PRSS50 ENST00000315170 human ensembl 70_37 -1 known silent c.66 p.A22 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 26 20 43.48 28 0 0.00 PRSS53 339105 genome.wustl.edu 37 16 31098175 31098175 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31098175 31098175 G A SNP PRSS53 ENST00000280606 human ensembl 70_37 -1 known missense c.287 p.S96F 1.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 17 14 45.16 35 0 0.00 PRSS53 339105 genome.wustl.edu 37 16 31100087 31100087 + Missense_Mutation SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 16 31100087 31100087 G T SNP PRSS53 ENST00000280606 human ensembl 70_37 -1 known missense c.44 p.T15K 0.840 pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 73 20 21.51 77 0 0.00 PRSS55 203074 genome.wustl.edu 37 8 10395994 10395995 + Frame_Shift_Ins INS - - G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 10395994 10395995 - G INS PRSS55 ENST00000328655 human ensembl 70_37 +1 known frame_shift_ins c.750_751 p.P252fs 0.991:1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 36 12 25.00 33 0 0.00 PRSS55 203074 genome.wustl.edu 37 8 10396148 10396148 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 8 10396148 10396148 G A SNP PRSS55 ENST00000328655 human ensembl 70_37 +1 known missense c.904 p.E302K 0.341 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 37 18 32.73 52 0 0.00 PRSS58 136541 genome.wustl.edu 37 7 141952174 141952174 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 141952174 141952174 G A SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known missense c.593 p.P198L 0.988 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC ENSG00000258223 22 3 12.00 51 0 0.00 PRSS58 136541 genome.wustl.edu 37 7 141952378 141952378 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 141952378 141952378 G A SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known nonsense c.490 p.Q164* 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC ENSG00000258223 27 8 22.86 27 0 0.00 PRSS58 136541 genome.wustl.edu 37 7 141955406 141955406 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 141955406 141955406 C T SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known missense c.128 p.G43E 0.889 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC ENSG00000258223 25 13 34.21 55 0 0.00 PRTFDC1 56952 genome.wustl.edu 37 10 25140370 25140370 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25140370 25140370 A C SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.577 p.L193V 0.903 tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC ENSG00000099256 17 17 50.00 38 0 0.00 PRTFDC1 56952 genome.wustl.edu 37 10 25147323 25147323 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 25147323 25147323 C G SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.421 p.E141Q 1.000 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC ENSG00000099256 11 19 63.33 27 0 0.00 PRTFDC1 56952 genome.wustl.edu 37 10 25160966 25160966 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 25160966 25160966 C G SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.366 p.Q122H 0.998 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC ENSG00000099256 21 7 25.00 29 0 0.00 PRTG 283659 genome.wustl.edu 37 15 55912411 55912411 + Silent SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 55912411 55912411 T G SNP PRTG ENST00000389286 human ensembl 70_37 -1 known silent c.3252 p.V1084 0.243 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 26 3 10.34 59 0 0.00 PRTG 283659 genome.wustl.edu 37 15 55912932 55912932 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 55912932 55912932 G C SNP PRTG ENST00000389286 human ensembl 70_37 -1 known missense c.3127 p.P1043A 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 33 8 19.51 31 0 0.00 PRTG 283659 genome.wustl.edu 37 15 55972266 55972266 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 55972266 55972266 G A SNP PRTG ENST00000389286 human ensembl 70_37 -1 known missense c.959 p.T320I 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 71 9 11.11 89 0 0.00 PRUNE 58497 genome.wustl.edu 37 1 150999800 150999800 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150999800 150999800 G C SNP PRUNE ENST00000271620 human ensembl 70_37 +1 known missense c.771 p.L257F 1.000 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 59 8 11.94 56 0 0.00 PRUNE 58497 genome.wustl.edu 37 1 151001297 151001297 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151001297 151001297 C G SNP PRUNE ENST00000271620 human ensembl 70_37 +1 known silent c.810 p.L270 0.091 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 31 35 53.03 83 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79229482 79229482 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 79229482 79229482 C G SNP PRUNE2 ENST00000464414 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PRUNE2 HGNC ENSG00000106772 61 7 10.29 89 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79259658 79259658 + Nonsense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 79259658 79259658 C A SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known nonsense c.7651 p.G2551* 1.000 pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 40 17 29.82 52 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79318388 79318389 + Frame_Shift_Ins INS - - T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 79318388 79318389 - T INS PRUNE2 ENST00000428286 human ensembl 70_37 -1 known frame_shift_ins c.7064_7063 p.L2355fs 0.010:0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 7 2 22.22 46 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79319881 79319881 + Nonsense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 79319881 79319881 G A SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known nonsense c.6232 p.R2078* 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 23 5 17.86 44 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79320088 79320088 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 79320088 79320088 C T SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.6025 p.E2009K 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 9 16 64.00 23 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79320705 79320705 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 79320705 79320705 G C SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.5408 p.S1803C 0.590 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 9 7 43.75 28 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79322089 79322089 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 79322089 79322089 C G SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.4024 p.E1342Q 0.066 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 18 15 45.45 37 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79324401 79324401 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 9 79324401 79324401 C T SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.1712 p.G571E 0.483 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 20 16 44.44 65 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79328481 79328481 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 79328481 79328481 G A SNP PRUNE2 ENST00000376718 human ensembl 70_37 -1 novel nonsense c.913 p.Q305* 1.000 pfam_DHHA2 pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 24 8 25.00 23 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79465412 79465412 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 79465412 79465412 G A SNP PRUNE2 ENST00000376718 human ensembl 70_37 -1 novel missense c.311 p.S104L 0.922 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 22 32 59.26 29 0 0.00 PRUNE2 158471 genome.wustl.edu 37 9 79465412 79465412 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 79465412 79465412 G A SNP PRUNE2 ENST00000376718 human ensembl 70_37 -1 novel missense c.311 p.S104L 0.922 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 56 75 57.25 130 0 0.00 PRX 57716 genome.wustl.edu 37 19 40900087 40900087 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40900087 40900087 C T SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.4172 p.R1391Q 0.003 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 25 4 13.79 41 0 0.00 PRX 57716 genome.wustl.edu 37 19 40901211 40901211 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40901211 40901211 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known silent c.3048 p.F1016 0.985 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 33 12 26.67 27 0 0.00 PRX 57716 genome.wustl.edu 37 19 40901379 40901379 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40901379 40901379 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known silent c.2880 p.S960 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 40 20 33.33 40 0 0.00 PRX 57716 genome.wustl.edu 37 19 40901380 40901380 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 40901380 40901380 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.2879 p.S960F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 40 21 34.43 40 0 0.00 PRX 57716 genome.wustl.edu 37 19 40902578 40902578 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 40902578 40902578 C T SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.1681 p.E561K 0.232 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 81 17 17.35 76 0 0.00 PRX 57716 genome.wustl.edu 37 19 40902682 40902682 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 40902682 40902682 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.1577 p.S526L 0.007 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 158 77 32.77 290 0 0.00 PRX 57716 genome.wustl.edu 37 19 40904465 40904465 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 40904465 40904465 C T SNP PRX ENST00000291825 human ensembl 70_37 -1 known silent c.443 p.*148 0.010 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 39 6 13.33 40 0 0.00 PSAP 5660 genome.wustl.edu 37 10 73580086 73580086 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 73580086 73580086 C T SNP PSAP ENST00000373120 human ensembl 70_37 -1 known missense c.916 p.E306K 0.000 pirsf_Saposin_chordata pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 70 16 18.39 56 0 0.00 PSCA 8000 genome.wustl.edu 37 8 143763116 143763116 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 143763116 143763116 C T SNP PSCA ENST00000505305 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSCA HGNC ENSG00000167653 4 5 55.56 8 0 0.00 PSD 5662 genome.wustl.edu 37 10 104163067 104163067 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 104163067 104163067 G C SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2965 p.P989A 0.001 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 39 14 26.42 62 0 0.00 PSD 5662 genome.wustl.edu 37 10 104164743 104164743 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 104164743 104164743 G T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2467 p.L823M 0.962 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 27 14 34.15 26 0 0.00 PSD 5662 genome.wustl.edu 37 10 104170686 104170686 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 104170686 104170686 T A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2020 p.T674S 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 41 8 16.33 81 0 0.00 PSD 5662 genome.wustl.edu 37 10 104170845 104170845 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104170845 104170845 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known silent c.1971 p.L657 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 29 18 38.30 55 0 0.00 PSD 5662 genome.wustl.edu 37 10 104174660 104174660 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104174660 104174660 C T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.1084 p.D362N 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 31 7 18.42 76 0 0.00 PSD 5662 genome.wustl.edu 37 10 104176175 104176175 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 104176175 104176175 G T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.621 p.F207L 0.802 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 12 5 29.41 20 0 0.00 PSD 5662 genome.wustl.edu 37 10 104176302 104176302 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 104176302 104176302 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.494 p.S165L 0.033 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 23 9 28.12 34 0 0.00 PSD 5662 genome.wustl.edu 37 10 104176405 104176405 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 104176405 104176405 C T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.391 p.G131R 0.401 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 40 21 34.43 43 0 0.00 PSD 5662 genome.wustl.edu 37 10 104176486 104176486 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 104176486 104176486 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.310 p.R104C 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 68 10 12.82 43 0 0.00 PSD 5662 genome.wustl.edu 37 10 104180693 104180693 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 104180693 104180693 G A SNP PSD ENST00000492902 human ensembl 70_37 -1 known rna NULL NULL 0.370 - - - no_errors PSD HGNC ENSG00000059915 33 19 36.54 45 0 0.00 PSD2 84249 genome.wustl.edu 37 5 139193876 139193876 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 139193876 139193876 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known missense c.943 p.H315Y 0.789 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 85 28 24.78 138 0 0.00 PSD2 84249 genome.wustl.edu 37 5 139201535 139201535 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 139201535 139201535 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known silent c.1155 p.L385 0.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 15 19 55.88 30 0 0.00 PSD2 84249 genome.wustl.edu 37 5 139201535 139201535 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 139201535 139201535 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known silent c.1155 p.L385 0.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 32 5 13.51 38 0 0.00 PSD4 23550 genome.wustl.edu 37 2 113915040 113915040 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 113915040 113915040 C T SNP PSD4 ENST00000465917 human ensembl 70_37 +1 known rna NULL NULL 0.278 - - - no_errors PSD4 HGNC ENSG00000125637 8 8 50.00 15 0 0.00 PSD4 23550 genome.wustl.edu 37 2 113943595 113943595 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 113943595 113943595 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known missense c.1391 p.S464L 0.009 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 30 17 36.17 61 0 0.00 PSD4 23550 genome.wustl.edu 37 2 113955395 113955395 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 113955395 113955395 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known silent c.2529 p.H843 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 30 10 25.00 43 0 0.00 PSD4 23550 genome.wustl.edu 37 2 113955395 113955395 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 113955395 113955395 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known silent c.2529 p.H843 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 60 31 34.07 23 0 0.00 PSEN1 5663 genome.wustl.edu 37 14 73637568 73637568 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 14 73637568 73637568 T C SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.151 p.S51P 0.066 prints_Pept_A22A_PS1 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 28 17 37.78 51 0 0.00 PSEN1 5663 genome.wustl.edu 37 14 73637568 73637568 + Missense_Mutation SNP T T C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 14 73637568 73637568 T C SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.151 p.S51P 0.066 prints_Pept_A22A_PS1 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 35 23 39.66 27 0 0.00 PSEN1 5663 genome.wustl.edu 37 14 73659433 73659433 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 73659433 73659433 G T SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.630 p.M210I 1.000 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 25 19 43.18 78 0 0.00 PSEN1 5663 genome.wustl.edu 37 14 73678482 73678482 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 73678482 73678482 G A SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.961 p.E321K 0.034 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 82 24 22.64 92 0 0.00 PSEN1 5663 genome.wustl.edu 37 14 73685914 73685914 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 73685914 73685914 T G SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.1321 p.F441V 1.000 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 23 8 25.81 66 0 0.00 PSEN2 5664 genome.wustl.edu 37 1 227079026 227079026 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 227079026 227079026 C T SNP PSEN2 ENST00000391872 human ensembl 70_37 +1 known nonsense c.1033 p.Q345* 0.711 smart_Peptidase_A22,prints_Pept_A22A_PS2 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 35 29 45.31 56 0 0.00 PSENEN 55851 genome.wustl.edu 37 19 36237663 36237663 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 36237663 36237663 G T SNP PSENEN ENST00000222266 human ensembl 70_37 +1 known missense c.221 p.W74L 1.000 pfam_Gamma_Secretase_Asp_P_PEN2 pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC ENSG00000205155 37 5 11.90 41 0 0.00 PSG1 5669 genome.wustl.edu 37 19 43373185 43373185 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 43373185 43373185 C T SNP PSG1 ENST00000312439 human ensembl 70_37 -1 known silent c.711 p.P237 0.431 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC ENSG00000231924 98 81 45.25 164 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43348532 43348532 + RNA SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 43348532 43348532 A G SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC ENSG00000248257 106 28 20.90 27 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43348532 43348532 + RNA SNP A A G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 43348532 43348532 A G SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC ENSG00000248257 396 81 16.98 292 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43348637 43348637 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43348637 43348637 G C SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC ENSG00000248257 166 40 19.32 171 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43349407 43349407 + RNA SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 43349407 43349407 T A SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PSG10P HGNC ENSG00000248257 102 61 37.42 215 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43358124 43358124 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 43358124 43358124 C T SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PSG10P HGNC ENSG00000248257 93 74 44.31 173 0 0.00 PSG10P 653492 genome.wustl.edu 37 19 43358392 43358392 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 43358392 43358392 C G SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors PSG10P HGNC ENSG00000248257 216 66 23.40 262 0 0.00 PSG11 5680 genome.wustl.edu 37 19 43519492 43519492 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 43519492 43519492 G A SNP PSG11 ENST00000320078 human ensembl 70_37 -1 known missense c.740 p.S247L 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 69 29 29.59 77 0 0.00 PSG11 5680 genome.wustl.edu 37 19 43529135 43529135 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 43529135 43529135 G T SNP PSG11 ENST00000320078 human ensembl 70_37 -1 known silent c.138 p.S46 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 117 38 24.52 140 0 0.00 PSG2 5670 genome.wustl.edu 37 19 43579627 43579627 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 43579627 43579627 G A SNP PSG2 ENST00000406487 human ensembl 70_37 -1 known silent c.588 p.S196 0.009 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG2 HGNC ENSG00000242221 288 41 12.42 227 0 0.00 PSG2 5670 genome.wustl.edu 37 19 43586753 43586753 + RNA SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 43586753 43586753 G T SNP PSG2 ENST00000491995 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors PSG2 HGNC ENSG00000242221 67 26 27.96 102 0 0.00 PSG2 5670 genome.wustl.edu 37 19 43586776 43586776 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 43586776 43586776 C T SNP PSG2 ENST00000491995 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG2 HGNC ENSG00000242221 151 32 17.49 144 0 0.00 PSG4 5672 genome.wustl.edu 37 19 43708080 43708080 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 43708080 43708080 C A SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.388 p.G130W 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC ENSG00000243137 12 3 20.00 19 0 0.00 PSG4 5672 genome.wustl.edu 37 19 43708175 43708175 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 43708175 43708175 C G SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.293 p.R98T 0.007 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC ENSG00000243137 121 33 21.43 190 1 0.52 PSG4 5672 genome.wustl.edu 37 19 43708314 43708314 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 43708314 43708314 G A SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.154 p.L52F 0.021 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC ENSG00000243137 66 47 41.59 83 0 0.00 PSG5 5673 genome.wustl.edu 37 19 43688967 43688967 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 43688967 43688967 C T SNP PSG5 ENST00000342951 human ensembl 70_37 -1 known missense c.397 p.G133R 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG5 HGNC ENSG00000204941 186 21 10.14 235 0 0.00 PSG6 5675 genome.wustl.edu 37 19 43411200 43411200 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 43411200 43411200 G A SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known nonsense c.1114 p.Q372* 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 224 53 19.13 206 1 0.48 PSG6 5675 genome.wustl.edu 37 19 43411950 43411950 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 43411950 43411950 C G SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known missense c.763 p.D255H 0.006 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 144 109 43.08 197 0 0.00 PSG6 5675 genome.wustl.edu 37 19 43414888 43414888 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 43414888 43414888 G C SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known missense c.550 p.Q184E 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 93 67 41.61 150 0 0.00 PSG7 5676 genome.wustl.edu 37 19 43440462 43440462 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43440462 43440462 C T SNP PSG7 ENST00000471557 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors PSG7 HGNC ENSG00000221878 5 5 50.00 8 0 0.00 PSG8 440533 genome.wustl.edu 37 19 43257302 43257302 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 43257302 43257302 C T SNP PSG8 ENST00000600709 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors PSG8 HGNC ENSG00000124467 19 19 50.00 38 0 0.00 PSG8 440533 genome.wustl.edu 37 19 43259329 43259329 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 43259329 43259329 C T SNP PSG8 ENST00000306511 human ensembl 70_37 -1 known missense c.799 p.E267K 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 84 48 36.36 193 0 0.00 PSG8 440533 genome.wustl.edu 37 19 43268273 43268273 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 43268273 43268273 G A SNP PSG8 ENST00000306511 human ensembl 70_37 -1 known silent c.225 p.L75 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 167 66 28.33 206 0 0.00 PSG9 5678 genome.wustl.edu 37 19 43762460 43762460 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 43762460 43762460 G C SNP PSG9 ENST00000270077 human ensembl 70_37 -1 known silent c.1137 p.L379 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC ENSG00000183668 87 58 40.00 164 0 0.00 PSG9 5678 genome.wustl.edu 37 19 43762463 43762463 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 43762463 43762463 C G SNP PSG9 ENST00000270077 human ensembl 70_37 -1 known missense c.1134 p.K378N 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC ENSG00000183668 83 57 40.71 168 0 0.00 PSIP1 11168 genome.wustl.edu 37 9 15486008 15486008 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 15486008 15486008 C T SNP PSIP1 ENST00000380733 human ensembl 70_37 -1 known missense c.452 p.R151K 1.000 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 21 7 25.00 23 0 0.00 PSIP1 11168 genome.wustl.edu 37 9 15490010 15490010 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 15490010 15490010 G A SNP PSIP1 ENST00000380733 human ensembl 70_37 -1 known missense c.262 p.P88S 1.000 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 60 26 30.23 97 0 0.00 PSIP1 11168 genome.wustl.edu 37 9 15510234 15510234 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 15510234 15510234 G C SNP PSIP1 ENST00000463712 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 36 9 20.00 32 0 0.00 PSKH2 85481 genome.wustl.edu 37 8 87076230 87076230 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 87076230 87076230 C G SNP PSKH2 ENST00000276616 human ensembl 70_37 -1 known missense c.816 p.R272S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PSKH2 HGNC ENSG00000147613 10 18 64.29 19 0 0.00 PSKH2 85481 genome.wustl.edu 37 8 87076347 87076347 + Silent SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 87076347 87076347 A C SNP PSKH2 ENST00000276616 human ensembl 70_37 -1 known silent c.699 p.V233 0.841 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PSKH2 HGNC ENSG00000147613 10 5 33.33 14 0 0.00 PSMA1 5682 genome.wustl.edu 37 11 14535160 14535160 + Nonsense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 14535160 14535160 G C SNP PSMA1 ENST00000418988 human ensembl 70_37 -1 known nonsense c.518 p.S173* 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA1 HGNC ENSG00000129084 92 36 28.12 156 0 0.00 PSMA3 5684 genome.wustl.edu 37 14 58711623 58711623 + RNA SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 58711623 58711623 C G SNP PSMA3 ENST00000554456 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMA3 HGNC ENSG00000100567 130 29 18.12 100 0 0.00 PSMA3 5684 genome.wustl.edu 37 14 58737187 58737187 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 58737187 58737187 C T SNP PSMA3 ENST00000216455 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 42 26 38.24 77 0 0.00 PSMA8 143471 genome.wustl.edu 37 18 23714030 23714030 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 23714030 23714030 C T SNP PSMA8 ENST00000308268 human ensembl 70_37 +1 known missense c.101 p.A34V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 18 6 25.00 58 0 0.00 PSMA8 143471 genome.wustl.edu 37 18 23758844 23758844 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 23758844 23758844 G C SNP PSMA8 ENST00000308268 human ensembl 70_37 +1 known missense c.546 p.K182N 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 47 6 11.32 73 0 0.00 PSMB1 5689 genome.wustl.edu 37 6 170844466 170844466 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170844466 170844466 C G SNP PSMB1 ENST00000262193 human ensembl 70_37 -1 known missense c.568 p.E190Q 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB1 HGNC ENSG00000008018 16 4 20.00 22 0 0.00 PSMB10 5699 genome.wustl.edu 37 16 67970608 67970608 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67970608 67970608 C G SNP PSMB10 ENST00000358514 human ensembl 70_37 -1 known missense c.45 p.E15D 0.955 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 50 15 23.08 46 0 0.00 PSMB10 5699 genome.wustl.edu 37 16 67970623 67970626 + Frame_Shift_Del DEL CCCT CCCT - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CCCT CCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 67970623 67970626 CCCT - DEL PSMB10 ENST00000358514 human ensembl 70_37 -1 known frame_shift_del c.30_27 p.G10fs 1.000:0.999:0.928:0.344 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 37 5 11.90 68 0 0.00 PSMB11 122706 genome.wustl.edu 37 14 23511492 23511492 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23511492 23511492 C T SNP PSMB11 ENST00000408907 human ensembl 70_37 +1 known missense c.58 p.H20Y 0.639 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 35 23 39.66 51 0 0.00 PSMB2 5690 genome.wustl.edu 37 1 36107024 36107024 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 36107024 36107024 G A SNP PSMB2 ENST00000373237 human ensembl 70_37 -1 known missense c.10 p.L4F 1.000 NULL pfam_Proteasome_sua/b - no_errors PSMB2 HGNC ENSG00000126067 71 38 34.55 89 0 0.00 PSMB3 5691 genome.wustl.edu 37 17 36916830 36916830 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 36916830 36916830 G T SNP PSMB3 ENST00000225426 human ensembl 70_37 +1 known missense c.443 p.G148V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 35 4 10.26 17 0 0.00 PSMB6 5694 genome.wustl.edu 37 17 4700801 4700801 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 4700801 4700801 C G SNP PSMB6 ENST00000270586 human ensembl 70_37 +1 known nonsense c.239 p.S80* 0.998 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 9 21 70.00 35 0 0.00 PSMB6 5694 genome.wustl.edu 37 17 4701366 4701366 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 4701366 4701366 G C SNP PSMB6 ENST00000270586 human ensembl 70_37 +1 known silent c.495 p.G165 1.000 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 73 11 12.94 112 0 0.00 PSMB8 5696 genome.wustl.edu 37 6 32809936 32809936 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 32809936 32809936 C A SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.512 p.S171I 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 39 14 26.42 62 0 0.00 PSMB8 5696 genome.wustl.edu 37 6 32810552 32810552 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32810552 32810552 G A SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.304 p.R102W 0.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 9 11 55.00 28 0 0.00 PSMB8 5696 genome.wustl.edu 37 6 32810842 32810842 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 32810842 32810842 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.172 p.G58S 0.003 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 5 37 88.10 17 0 0.00 PSMB8 5696 genome.wustl.edu 37 6 32810842 32810842 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 32810842 32810842 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.172 p.G58S 0.003 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 9 38 80.85 59 0 0.00 PSMB8 5696 genome.wustl.edu 37 6 32810860 32810860 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 32810860 32810860 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.154 p.E52K 0.012 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 22 27 55.10 70 0 0.00 PSMB9 5698 genome.wustl.edu 37 6 32822041 32822041 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 32822041 32822041 C T SNP PSMB9 ENST00000374859 human ensembl 70_37 +1 known missense c.35 p.P12L 0.004 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC ENSG00000240065 56 31 35.63 115 0 0.00 PSMC1 5700 genome.wustl.edu 37 14 90726515 90726515 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 90726515 90726515 G C SNP PSMC1 ENST00000261303 human ensembl 70_37 +1 known missense c.114 p.K38N 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 35 4 10.26 37 0 0.00 PSMC1 5700 genome.wustl.edu 37 14 90734620 90734620 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 90734620 90734620 G C SNP PSMC1 ENST00000261303 human ensembl 70_37 +1 known missense c.744 p.L248F 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 29 16 35.56 34 0 0.00 PSMC2 5701 genome.wustl.edu 37 7 102988206 102988206 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 102988206 102988206 G T SNP PSMC2 ENST00000292644 human ensembl 70_37 +1 known missense c.48 p.E16D 0.998 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 34 15 30.61 26 0 0.00 PSMC2 5701 genome.wustl.edu 37 7 103008390 103008390 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 103008390 103008390 C G SNP PSMC2 ENST00000292644 human ensembl 70_37 +1 known missense c.1191 p.I397M 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 111 27 19.57 122 0 0.00 PSMC3 5702 genome.wustl.edu 37 11 47447758 47447758 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 47447758 47447758 C T SNP PSMC3 ENST00000298852 human ensembl 70_37 -1 known missense c.73 p.E25K 0.990 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 81 16 16.49 61 0 0.00 PSMC5 5705 genome.wustl.edu 37 17 61905260 61905260 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 61905260 61905260 C T SNP PSMC5 ENST00000582420 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMC5 HGNC ENSG00000087191 51 6 10.53 50 0 0.00 PSMC6 5706 genome.wustl.edu 37 14 53184808 53184808 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 53184808 53184808 A C SNP PSMC6 ENST00000445930 human ensembl 70_37 +1 known missense c.581 p.K194T 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 12 13 52.00 63 0 0.00 PSMC6 5706 genome.wustl.edu 37 14 53187672 53187672 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 53187672 53187672 C T SNP PSMC6 ENST00000445930 human ensembl 70_37 +1 known missense c.913 p.R305C 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 15 9 37.50 30 0 0.00 PSMD10 5716 genome.wustl.edu 37 X 107330968 107330968 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 107330968 107330968 G T SNP PSMD10 ENST00000217958 human ensembl 70_37 -1 known missense c.475 p.L159M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PSMD10 HGNC ENSG00000101843 19 14 42.42 46 0 0.00 PSMD11 5717 genome.wustl.edu 37 17 30771577 30771577 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 30771577 30771577 C T SNP PSMD11 ENST00000261712 human ensembl 70_37 +1 known silent c.36 p.A12 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 12 9 42.86 53 0 0.00 PSMD12 5718 genome.wustl.edu 37 17 65337163 65337163 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 65337163 65337163 G A SNP PSMD12 ENST00000356126 human ensembl 70_37 -1 known silent c.1167 p.S389 0.976 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 20 4 16.67 26 0 0.00 PSMD2 5708 genome.wustl.edu 37 3 184019826 184019826 + Missense_Mutation SNP A A T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 184019826 184019826 A T SNP PSMD2 ENST00000310118 human ensembl 70_37 +1 known missense c.671 p.N224I 0.999 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 25 4 13.79 17 0 0.00 PSMD2 5708 genome.wustl.edu 37 3 184026613 184026613 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 184026613 184026613 C T SNP PSMD2 ENST00000310118 human ensembl 70_37 +1 known missense c.2662 p.L888F 0.999 pirsf_26S_Psome_Rpn1 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 342 66 16.18 285 0 0.00 PSMD4 5710 genome.wustl.edu 37 1 151234722 151234722 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151234722 151234722 C T SNP PSMD4 ENST00000368884 human ensembl 70_37 +1 known missense c.112 p.H38Y 1.000 pfam_Ssl1-like,smart_VWF_A,pfscan_VWF_A pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A - no_errors PSMD4 HGNC ENSG00000159352 126 45 26.32 129 0 0.00 PSMD4 5710 genome.wustl.edu 37 1 151236293 151236293 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151236293 151236293 G C SNP PSMD4 ENST00000469786 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PSMD4 HGNC ENSG00000159352 15 5 25.00 22 0 0.00 PSMD5 5711 genome.wustl.edu 37 9 123605112 123605112 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 123605112 123605112 G A SNP PSMD5 ENST00000210313 human ensembl 70_37 -1 known missense c.76 p.H26Y 0.575 pfam_26S_Psome_nonATP_su5 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 19 22 53.66 28 0 0.00 PSMD6 9861 genome.wustl.edu 37 3 64009002 64009002 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 64009002 64009002 G A SNP PSMD6 ENST00000295901 human ensembl 70_37 -1 known missense c.94 p.R32C 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 11 9 45.00 10 0 0.00 PSMD9 5715 genome.wustl.edu 37 12 122326835 122326835 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 122326835 122326835 G C SNP PSMD9 ENST00000541212 human ensembl 70_37 +1 known missense c.73 p.E25Q 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 28 11 28.21 47 0 0.00 PSMD9 5715 genome.wustl.edu 37 12 122337767 122337767 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 122337767 122337767 G A SNP PSMD9 ENST00000543699 human ensembl 70_37 +1 known missense c.469 p.A157T 0.001 NULL NULL - no_errors PSMD9 HGNC ENSG00000110801 54 15 21.74 67 0 0.00 PSMD9 5715 genome.wustl.edu 37 12 122340930 122340930 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122340930 122340930 G A SNP PSMD9 ENST00000541212 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 31 25 44.64 63 0 0.00 PSMD9 5715 genome.wustl.edu 37 12 122353787 122353787 + Missense_Mutation SNP G G T TCGA-C5-A2LT-01A-11D-A18J-09 TCGA-C5-A2LT-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f6b355e-3898-4be6-be97-da0c3840a4ed aff606ff-0c62-4adf-b137-275bf4aafa5a 12 122353787 122353787 G T SNP PSMD9 ENST00000541212 human ensembl 70_37 +1 known missense c.581 p.R194L 0.992 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 36 4 10.00 24 0 0.00 PSME1 5720 genome.wustl.edu 37 14 24605456 24605457 + RNA INS - - C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 24605456 24605457 - C INS PSME1 ENST00000470718 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors PSME1 HGNC ENSG00000092010 7 3 30.00 15 0 0.00 PSME3 10197 genome.wustl.edu 37 17 40985912 40985912 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40985912 40985912 C G SNP PSME3 ENST00000592578 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSME3 HGNC ENSG00000131467 24 12 33.33 34 0 0.00 PSME3 10197 genome.wustl.edu 37 17 40991365 40991365 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 40991365 40991365 C T SNP PSME3 ENST00000293362 human ensembl 70_37 +1 known missense c.691 p.R231W 1.000 pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu - no_errors PSME3 HGNC ENSG00000131467 44 37 45.68 99 0 0.00 PSME3 10197 genome.wustl.edu 37 17 40991365 40991365 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 40991365 40991365 C T SNP PSME3 ENST00000293362 human ensembl 70_37 +1 known missense c.691 p.R231W 1.000 pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu - no_errors PSME3 HGNC ENSG00000131467 41 14 25.45 52 0 0.00 PSME4 23198 genome.wustl.edu 37 2 54127099 54127099 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 54127099 54127099 G C SNP PSME4 ENST00000404125 human ensembl 70_37 -1 known missense c.3341 p.S1114C 0.427 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 38 32 45.71 69 0 0.00 PSME4 23198 genome.wustl.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54154547 54154547 C A SNP PSME4 ENST00000404125 human ensembl 70_37 -1 known missense c.1577 p.R526I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 16 9 36.00 42 0 0.00 PSMF1 9491 genome.wustl.edu 37 20 1115859 1115859 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 1115859 1115859 C T SNP PSMF1 ENST00000333082 human ensembl 70_37 +1 known missense c.461 p.P154L 0.771 NULL pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 16 40 71.43 75 0 0.00 PSMF1 9491 genome.wustl.edu 37 20 1146841 1146841 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 1146841 1146841 G C SNP PSMF1 ENST00000484891 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors PSMF1 HGNC ENSG00000125818 54 8 12.90 53 0 0.00 PSMG1 8624 genome.wustl.edu 37 21 40550497 40550497 + Nonsense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 40550497 40550497 G C SNP PSMG1 ENST00000331573 human ensembl 70_37 -1 known nonsense c.533 p.S178* 0.945 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 58 10 14.71 49 0 0.00 PSMG1 8624 genome.wustl.edu 37 21 40551889 40551889 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 40551889 40551889 G T SNP PSMG1 ENST00000331573 human ensembl 70_37 -1 known nonsense c.417 p.C139* 1.000 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 33 4 10.81 27 0 0.00 PSMG3 84262 genome.wustl.edu 37 7 1607367 1607367 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 1607367 1607367 C G SNP PSMG3 ENST00000252329 human ensembl 70_37 -1 known silent c.336 p.L112 0.947 pfam_Proteasome_assmbl_chp_3 pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC ENSG00000157778 25 6 19.35 46 0 0.00 PSPC1 55269 genome.wustl.edu 37 13 20279828 20279828 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 20279828 20279828 G C SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.1360 p.P454A 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 123 34 21.66 138 0 0.00 PSPC1 55269 genome.wustl.edu 37 13 20279968 20279968 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 20279968 20279968 G A SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.1220 p.A407V 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 132 23 14.84 106 0 0.00 PSPC1 55269 genome.wustl.edu 37 13 20325522 20325522 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 20325522 20325522 C G SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.856 p.E286Q 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 35 13 27.08 68 0 0.00 PSPC1 55269 genome.wustl.edu 37 13 20325600 20325600 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 20325600 20325600 C G SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 29 7 19.44 52 0 0.00 PSPC1 55269 genome.wustl.edu 37 13 20356657 20356657 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 20356657 20356657 G A SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.241 p.R81C 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 16 26 61.90 33 0 0.00 PSPH 5723 genome.wustl.edu 37 7 56079283 56079283 + RNA DEL A A - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 7 56079283 56079283 A - DEL PSPH ENST00000459834 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSPH HGNC ENSG00000146733 12 5 29.41 16 0 0.00 PSPH 5723 genome.wustl.edu 37 7 56079283 56079283 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 56079283 56079283 A - DEL PSPH ENST00000459834 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSPH HGNC ENSG00000146733 8 5 38.46 8 0 0.00 PSPH 5723 genome.wustl.edu 37 7 56082739 56082739 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 56082739 56082739 C T SNP PSPH ENST00000275605 human ensembl 70_37 -1 known missense c.547 p.D183N 1.000 pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 85 33 27.97 140 0 0.00 PSPN 5623 genome.wustl.edu 37 19 6375622 6375622 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6375622 6375622 G A SNP PSPN ENST00000245810 human ensembl 70_37 -1 known missense c.154 p.H52Y 0.956 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors PSPN HGNC ENSG00000125650 35 43 55.13 103 0 0.00 PSRC1 84722 genome.wustl.edu 37 1 109823694 109823694 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 109823694 109823694 C T SNP PSRC1 ENST00000438534 human ensembl 70_37 -1 known silent c.699 p.L233 0.009 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 68 34 33.33 75 0 0.00 PSTK 118672 genome.wustl.edu 37 10 124746889 124746889 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124746889 124746889 G C SNP PSTK ENST00000368887 human ensembl 70_37 +1 known missense c.917 p.R306T 0.010 NULL pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 23 14 37.84 33 0 0.00 PSTPIP1 9051 genome.wustl.edu 37 15 77310554 77310554 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 77310554 77310554 G A SNP PSTPIP1 ENST00000559785 human ensembl 70_37 +1 known silent c.297 p.K99 1.000 pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC ENSG00000140368 44 17 27.87 60 0 0.00 PSTPIP1 9051 genome.wustl.edu 37 15 77317846 77317846 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 77317846 77317846 G C SNP PSTPIP1 ENST00000559785 human ensembl 70_37 +1 known missense c.450 p.E150D 1.000 pfam_FCH,superfamily_Prismane-like,smart_FCH pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC ENSG00000140368 17 18 51.43 93 0 0.00 PSTPIP1 9051 genome.wustl.edu 37 15 77320166 77320166 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 15 77320166 77320166 C T SNP PSTPIP1 ENST00000559750 human ensembl 70_37 +1 known missense c.380 p.S127L 0.289 NULL pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC ENSG00000140368 23 23 50.00 103 0 0.00 PSTPIP2 9050 genome.wustl.edu 37 18 43579406 43579406 + Missense_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 18 43579406 43579406 T C SNP PSTPIP2 ENST00000409746 human ensembl 70_37 -1 known missense c.512 p.E171G 1.000 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors PSTPIP2 HGNC ENSG00000152229 61 16 20.78 91 0 0.00 PSTPIP2 9050 genome.wustl.edu 37 18 43619965 43619965 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 43619965 43619965 G C SNP PSTPIP2 ENST00000409746 human ensembl 70_37 -1 known missense c.82 p.L28V 0.999 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,smart_FCH,pfscan_FCH - no_errors PSTPIP2 HGNC ENSG00000152229 61 27 30.68 84 0 0.00 PTAFR 5724 genome.wustl.edu 37 1 28476617 28476617 + Nonsense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 28476617 28476617 C A SNP PTAFR ENST00000305392 human ensembl 70_37 -1 known nonsense c.916 p.E306* 0.523 prints_PAF_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors PTAFR HGNC ENSG00000169403 98 109 52.66 165 0 0.00 PTAFR 5724 genome.wustl.edu 37 1 28476822 28476822 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 28476822 28476822 G A SNP PTAFR ENST00000305392 human ensembl 70_37 -1 known silent c.711 p.V237 0.439 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors PTAFR HGNC ENSG00000169403 47 18 27.69 68 0 0.00 PTAR1 375743 genome.wustl.edu 37 9 72365756 72365756 + Missense_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 72365756 72365756 G C SNP PTAR1 ENST00000340434 human ensembl 70_37 -1 known missense c.197 p.P66R 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 25 9 25.71 29 0 0.00 PTAR1 375743 genome.wustl.edu 37 9 72365756 72365756 + Missense_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 9 72365756 72365756 G C SNP PTAR1 ENST00000340434 human ensembl 70_37 -1 known missense c.197 p.P66R 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 34 16 32.00 23 0 0.00 PTBP1 5725 genome.wustl.edu 37 19 804855 804855 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 804855 804855 G A SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known silent c.633 p.L211 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 50 28 35.90 57 0 0.00 PTBP1 5725 genome.wustl.edu 37 19 807868 807868 + Splice_Site SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 807868 807868 G C SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known splice_site c.1120-1 e11-1 1.000 - - - no_errors PTBP1 HGNC ENSG00000011304 50 34 40.48 51 0 0.00 PTBP1 5725 genome.wustl.edu 37 19 808419 808419 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 808419 808419 G C SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known missense c.1213 p.V405L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 44 7 13.73 61 0 0.00 PTBP1 5725 genome.wustl.edu 37 19 810808 810808 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 810808 810808 C G SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known missense c.1656 p.F552L 1.000 pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 30 12 28.57 34 0 0.00 PTBP2 58155 genome.wustl.edu 37 1 97187332 97187332 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 97187332 97187332 C T SNP PTBP2 ENST00000482253 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTBP2 HGNC ENSG00000117569 28 25 47.17 39 0 0.00 PTBP2 58155 genome.wustl.edu 37 1 97236446 97236446 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 97236446 97236446 C T SNP PTBP2 ENST00000460706 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTBP2 HGNC ENSG00000117569 11 6 33.33 32 0 0.00 PTBP2 58155 genome.wustl.edu 37 1 97278931 97278931 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 97278931 97278931 G C SNP PTBP2 ENST00000394184 human ensembl 70_37 +1 known silent c.1617 p.L539 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 16 2 11.11 15 0 0.00 PTBP2 58155 genome.wustl.edu 37 1 97279084 97279084 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 97279084 97279084 T G SNP PTBP2 ENST00000482253 human ensembl 70_37 +1 known rna NULL NULL 0.341 - - - no_errors PTBP2 HGNC ENSG00000117569 11 4 26.67 20 0 0.00 PTBP3 9991 genome.wustl.edu 37 9 114986244 114986244 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 114986244 114986244 G C SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known missense c.1564 p.L522V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 17 12 41.38 23 0 0.00 PTBP3 9991 genome.wustl.edu 37 9 114990700 114990700 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 114990700 114990700 A G SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known silent c.1209 p.N403 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 10 6 37.50 30 0 0.00 PTBP3 9991 genome.wustl.edu 37 9 115013283 115013283 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 115013283 115013283 C G SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known missense c.830 p.R277T 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 29 10 25.64 32 0 0.00 PTCD1 26024 genome.wustl.edu 37 7 99032527 99032527 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 99032527 99032527 C T SNP PTCD1 ENST00000555673 human ensembl 70_37 -1 known silent c.486 p.R162 0.003 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC ENSG00000106246 76 12 13.64 124 0 0.00 PTCD1 26024 genome.wustl.edu 37 7 99032588 99032588 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 99032588 99032588 G C SNP PTCD1 ENST00000555673 human ensembl 70_37 -1 known missense c.425 p.S142C 0.998 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC ENSG00000106246 37 6 13.95 45 0 0.00 PTCD2 79810 genome.wustl.edu 37 5 71616231 71616231 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 71616231 71616231 G C SNP PTCD2 ENST00000308077 human ensembl 70_37 +1 known missense c.22 p.A8P 0.069 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC ENSG00000049883 31 21 40.38 92 0 0.00 PTCH1 5727 genome.wustl.edu 37 9 98209303 98209303 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 98209303 98209303 G T SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known missense c.4235 p.P1412H 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 21 4 16.00 24 0 0.00 PTCH1 5727 genome.wustl.edu 37 9 98211363 98211363 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 9 98211363 98211363 G A SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known silent c.3792 p.F1264 0.950 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 34 12 26.09 48 0 0.00 PTCH1 5727 genome.wustl.edu 37 9 98242341 98242341 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 98242341 98242341 C G SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known missense c.977 p.G326A 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 149 37 19.89 204 0 0.00 PTCH2 8643 genome.wustl.edu 37 1 45292359 45292359 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45292359 45292359 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.2777 p.A926V 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 26 13 33.33 33 0 0.00 PTCH2 8643 genome.wustl.edu 37 1 45292952 45292952 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 45292952 45292952 C T SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.2401 p.A801T 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 89 27 23.08 63 0 0.00 PTCH2 8643 genome.wustl.edu 37 1 45293815 45293815 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 45293815 45293815 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known silent c.1758 p.D586 0.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 116 38 24.68 174 0 0.00 PTCH2 8643 genome.wustl.edu 37 1 45293982 45293982 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 45293982 45293982 G C SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known silent c.1695 p.L565 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 39 10 20.41 47 0 0.00 PTCH2 8643 genome.wustl.edu 37 1 45294014 45294014 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 45294014 45294014 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.1663 p.R555W 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 20 12 37.50 38 0 0.00 PTCHD1 139411 genome.wustl.edu 37 X 23397865 23397865 + Missense_Mutation SNP A A G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 23397865 23397865 A G SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.509 p.N170S 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 64 20 23.81 97 0 0.00 PTCHD1 139411 genome.wustl.edu 37 X 23398156 23398156 + Missense_Mutation SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 23398156 23398156 T A SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.800 p.V267E 0.996 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 25 22 46.81 84 0 0.00 PTCHD1 139411 genome.wustl.edu 37 X 23411482 23411482 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 23411482 23411482 C T SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.1847 p.S616F 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 41 10 19.61 46 0 0.00 PTCHD1 139411 genome.wustl.edu 37 X 23411550 23411550 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 23411550 23411550 G A SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.1915 p.E639K 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 36 22 37.93 49 0 0.00 PTCHD1 139411 genome.wustl.edu 37 X 23412156 23412157 + Frame_Shift_Ins INS - - T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 23412156 23412157 - T INS PTCHD1 ENST00000379361 human ensembl 70_37 +1 known frame_shift_ins c.2521_2522 p.L842fs 1.000:1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 42 9 17.65 58 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11561252 11561252 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11561252 11561252 T C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known missense c.203 p.F68S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 16 14 46.67 33 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11561451 11561451 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 11561451 11561451 G A SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.402 p.G134 0.995 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 40 6 13.04 48 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11575526 11575526 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 11575526 11575526 G C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.1554 p.L518 1.000 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 28 25 47.17 29 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11575526 11575526 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 11575526 11575526 G C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.1554 p.L518 1.000 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 47 23 32.86 59 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11579820 11579820 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 11579820 11579820 G T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known nonsense c.2083 p.E695* 0.007 pfam_Patched pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 28 15 34.88 28 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11579839 11579839 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 11579839 11579839 C T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known missense c.2102 p.S701F 0.001 pfam_Patched pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 12 57 82.61 40 0 0.00 PTCHD2 57540 genome.wustl.edu 37 1 11589700 11589700 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 11589700 11589700 C T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.2886 p.P962 0.429 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 57 17 22.97 69 0 0.00 PTCHD3 374308 genome.wustl.edu 37 10 27702350 27702350 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 27702350 27702350 G A SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known missense c.830 p.T277M 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 82 22 21.15 85 0 0.00 PTCHD3 374308 genome.wustl.edu 37 10 27702694 27702694 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 27702694 27702694 G A SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.486 p.D162 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 56 31 35.63 64 0 0.00 PTCHD3 374308 genome.wustl.edu 37 10 27702727 27702727 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 27702727 27702727 C T SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.453 p.A151 0.007 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 31 8 20.51 39 0 0.00 PTCHD3 374308 genome.wustl.edu 37 10 27702730 27702730 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 27702730 27702730 G T SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.450 p.A150 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 31 4 11.43 53 0 0.00 PTCHD4 442213 genome.wustl.edu 37 6 47846225 47846225 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 47846225 47846225 G C SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known missense c.2355 p.F785L 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 24 3 11.11 28 0 0.00 PTCHD4 442213 genome.wustl.edu 37 6 47846660 47846660 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 47846660 47846660 G A SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known silent c.1920 p.F640 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 33 21 38.89 48 0 0.00 PTCHD4 442213 genome.wustl.edu 37 6 48036318 48036318 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 48036318 48036318 C T SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known missense c.74 p.R25K 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 37 5 11.90 32 0 0.00 PTDSS1 9791 genome.wustl.edu 37 8 97295861 97295861 + RNA SNP A A C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 8 97295861 97295861 A C SNP PTDSS1 ENST00000518776 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTDSS1 HGNC ENSG00000156471 29 29 50.00 31 0 0.00 PTDSS1 9791 genome.wustl.edu 37 8 97311943 97311943 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 97311943 97311943 C T SNP PTDSS1 ENST00000517309 human ensembl 70_37 +1 known missense c.622 p.P208S 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 132 95 41.67 169 0 0.00 PTDSS2 81490 genome.wustl.edu 37 11 488567 488567 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 488567 488567 C G SNP PTDSS2 ENST00000308020 human ensembl 70_37 +1 known missense c.774 p.I258M 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 102 31 23.31 164 0 0.00 PTDSS2 81490 genome.wustl.edu 37 11 489708 489708 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 489708 489708 G C SNP PTDSS2 ENST00000308020 human ensembl 70_37 +1 known missense c.1090 p.E364Q 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 5 4 44.44 26 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89624269 89624269 + Nonsense_Mutation SNP A A T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 89624269 89624269 A T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.43 p.R15* 1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 29 27 48.21 48 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89653925 89653925 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 89653925 89653925 C A SNP PTEN ENST00000462694 human ensembl 70_37 +1 known rna NULL NULL 0.244 - - - no_errors PTEN HGNC ENSG00000171862 45 7 13.21 34 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89685300 89685300 + Nonsense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 89685300 89685300 C G SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.195 p.Y65* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 11 7 38.89 12 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89685305 89685306 + Frame_Shift_Ins INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 89685305 89685306 - A INS PTEN ENST00000371953 human ensembl 70_37 +1 known frame_shift_ins c.200_201 p.Y68fs 1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 53 26 32.91 52 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89690847 89690847 + Splice_Site SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 89690847 89690847 G T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known splice_site c.253+1 e4+1 1.000 - - - no_errors PTEN HGNC ENSG00000171862 9 29 76.32 36 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 24 59 71.08 89 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 24 27 51.92 103 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 18 64 78.05 117 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89693162 89693162 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89693162 89693162 G C SNP PTEN ENST00000498703 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTEN HGNC ENSG00000171862 4 6 60.00 11 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89711893 89711893 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 89711893 89711893 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.511 p.Q171* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 26 18 40.91 59 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89717609 89717609 + Splice_Site SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 10 89717609 89717609 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known splice_site c.635-1 e7-1 1.000 - - - no_errors PTEN HGNC ENSG00000171862 21 47 69.12 69 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89717615 89717615 + Nonsense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 89717615 89717615 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.640 p.Q214* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 110 46 29.49 138 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89717661 89717661 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 89717661 89717661 C G SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.686 p.S229* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 31 23 42.59 106 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 89717672 89717672 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.697 p.R233* 0.984 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 8 129 94.16 61 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89717729 89717729 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89717729 89717729 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.754 p.D252N 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 19 31 62.00 75 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89720783 89720783 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89720783 89720783 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.934 p.D312N 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 14 9 39.13 53 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89720811 89720812 + Frame_Shift_Ins INS - - A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 89720811 89720812 - A INS PTEN ENST00000371953 human ensembl 70_37 +1 known frame_shift_ins c.962_963 p.N323fs 1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 26 8 23.53 79 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89720822 89720822 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 89720822 89720822 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.973 p.L325F 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 12 11 47.83 50 0 0.00 PTEN 5728 genome.wustl.edu 37 10 89725043 89725043 + Splice_Site SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 89725043 89725043 G T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known splice_site c.1027-1 e9-1 1.000 - - - no_errors PTEN HGNC ENSG00000171862 14 18 56.25 52 0 0.00 PTENP1 11191 genome.wustl.edu 37 9 33674656 33674656 + RNA SNP T T C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 33674656 33674656 T C SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 21 3 12.50 15 0 0.00 PTENP1 11191 genome.wustl.edu 37 9 33674910 33674910 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33674910 33674910 T G SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 0.701 - - - no_errors PTENP1 HGNC ENSG00000237984 10 5 33.33 20 0 0.00 PTENP1 11191 genome.wustl.edu 37 9 33676355 33676355 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 33676355 33676355 C T SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 64 22 25.58 123 0 0.00 PTENP1 11191 genome.wustl.edu 37 9 33676404 33676404 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33676404 33676404 A C SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 37 16 30.19 76 0 0.00 PTENP1 11191 genome.wustl.edu 37 9 33676899 33676899 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 33676899 33676899 G A SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 6 4 40.00 10 0 0.00 PTER 9317 genome.wustl.edu 37 10 16526443 16526443 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 16526443 16526443 G A SNP PTER ENST00000298942 human ensembl 70_37 +1 known silent c.60 p.L20 1.000 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 42 25 37.31 78 0 0.00 PTER 9317 genome.wustl.edu 37 10 16526606 16526606 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 16526606 16526606 C T SNP PTER ENST00000298942 human ensembl 70_37 +1 known nonsense c.223 p.Q75* 1.000 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 36 6 14.29 37 0 0.00 PTF1A 256297 genome.wustl.edu 37 10 23481515 23481515 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 23481515 23481515 C T SNP PTF1A ENST00000376504 human ensembl 70_37 +1 known missense c.56 p.S19L 0.795 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors PTF1A HGNC ENSG00000168267 38 20 34.48 41 0 0.00 PTGDR 5729 genome.wustl.edu 37 14 52734613 52734613 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 52734613 52734613 C A SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known missense c.81 p.F27L 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 32 22 40.74 54 0 0.00 PTGDR 5729 genome.wustl.edu 37 14 52734613 52734613 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 52734613 52734613 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.81 p.F27 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 22 18 45.00 66 0 0.00 PTGDR 5729 genome.wustl.edu 37 14 52734971 52734971 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 52734971 52734971 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known missense c.439 p.R147C 0.919 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 3 4 57.14 16 0 0.00 PTGDR 5729 genome.wustl.edu 37 14 52735042 52735042 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 52735042 52735042 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.510 p.G170 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 96 24 20.00 130 0 0.00 PTGDR 5729 genome.wustl.edu 37 14 52735240 52735240 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 14 52735240 52735240 G A SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.708 p.P236 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 9 7 43.75 16 0 0.00 PTGDR2 11251 genome.wustl.edu 37 11 60620887 60620887 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 60620887 60620887 G A SNP PTGDR2 ENST00000332539 human ensembl 70_37 -1 known silent c.309 p.F103 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt - no_errors PTGDR2 HGNC ENSG00000183134 45 5 10.00 59 0 0.00 PTGDS 5730 genome.wustl.edu 37 9 139874618 139874618 + RNA SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 139874618 139874618 T A SNP PTGDS ENST00000462514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTGDS HGNC ENSG00000107317 75 73 49.32 116 0 0.00 PTGDS 5730 genome.wustl.edu 37 9 139875331 139875331 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139875331 139875331 C A SNP PTGDS ENST00000462514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTGDS HGNC ENSG00000107317 37 7 15.91 41 0 0.00 PTGER2 5732 genome.wustl.edu 37 14 52781855 52781855 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 52781855 52781855 C T SNP PTGER2 ENST00000245457 human ensembl 70_37 +1 known silent c.589 p.L197 0.984 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 15 21 58.33 32 0 0.00 PTGER2 5732 genome.wustl.edu 37 14 52781935 52781935 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 52781935 52781935 C T SNP PTGER2 ENST00000245457 human ensembl 70_37 +1 known silent c.669 p.I223 0.694 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 26 14 35.00 41 0 0.00 PTGER3 5733 genome.wustl.edu 37 1 71418672 71418672 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 71418672 71418672 C T SNP PTGER3 ENST00000356595 human ensembl 70_37 -1 known missense c.1175 p.R392H 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 28 51 64.56 113 1 0.88 PTGER3 5733 genome.wustl.edu 37 1 71512631 71512631 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 71512631 71512631 G C SNP PTGER3 ENST00000354608 human ensembl 70_37 -1 known missense c.630 p.I210M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 9 6 40.00 15 0 0.00 PTGER3 5733 genome.wustl.edu 37 1 71512886 71512886 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 71512886 71512886 C T SNP PTGER3 ENST00000354608 human ensembl 70_37 -1 known silent c.375 p.P125 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 25 22 46.81 59 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681118 40681118 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 40681118 40681118 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known missense c.23 p.S8L 0.018 prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 21 9 30.00 59 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681122 40681122 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 40681122 40681122 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.27 p.S9 0.065 prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 49 15 23.44 42 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681722 40681722 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 40681722 40681722 G A SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.627 p.A209 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 19 4 17.39 12 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681884 40681884 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 40681884 40681884 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.789 p.I263 0.845 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 26 4 13.33 13 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681884 40681884 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 40681884 40681884 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.789 p.I263 0.845 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 9 3 25.00 12 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40681917 40681917 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 40681917 40681917 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.822 p.L274 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 30 6 16.67 17 0 0.00 PTGER4 5734 genome.wustl.edu 37 5 40691969 40691969 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 40691969 40691969 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known missense c.956 p.S319F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 42 35 45.45 60 0 0.00 PTGES 9536 genome.wustl.edu 37 9 132502013 132502013 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 132502013 132502013 T C SNP PTGES ENST00000340607 human ensembl 70_37 -1 known silent c.336 p.A112 0.060 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors PTGES HGNC ENSG00000148344 71 23 24.47 109 0 0.00 PTGES 9536 genome.wustl.edu 37 9 132510990 132510990 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 132510990 132510990 C G SNP PTGES ENST00000340607 human ensembl 70_37 -1 known silent c.153 p.L51 1.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors PTGES HGNC ENSG00000148344 27 30 52.63 62 0 0.00 PTGES3 10728 genome.wustl.edu 37 12 57057307 57057307 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57057307 57057307 C T SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTGES3 HGNC ENSG00000110958 7 10 58.82 14 0 0.00 PTGES3 10728 genome.wustl.edu 37 12 57057908 57057908 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 57057908 57057908 G A SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 0.127 - - - no_errors PTGES3 HGNC ENSG00000110958 29 7 19.44 44 0 0.00 PTGES3 10728 genome.wustl.edu 37 12 57081748 57081748 + RNA SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 57081748 57081748 C T SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTGES3 HGNC ENSG00000110958 12 4 25.00 25 0 0.00 PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41108566 41108566 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 41108566 41108566 C T SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.923 p.R308K 0.304 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 13 5 27.78 11 0 0.00 PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41113211 41113211 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41113211 41113211 G A SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.851 p.S284L 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 36 36 50.00 50 0 0.00 PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41132190 41132190 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 41132190 41132190 G C SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.10 p.L4V 0.000 NULL pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 25 14 35.90 63 0 0.00 PTGFR 5737 genome.wustl.edu 37 1 78958718 78958718 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 78958718 78958718 A G SNP PTGFR ENST00000370757 human ensembl 70_37 +1 known missense c.290 p.E97G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 27 5 15.62 74 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117487580 117487580 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 117487580 117487580 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.698 p.S233L 0.773 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 26 31 54.39 21 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117509651 117509651 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 117509651 117509651 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.1758 p.L586 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 8 3 27.27 18 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117509728 117509728 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 117509728 117509728 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.1835 p.S612F 0.518 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 14 7 33.33 14 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117509918 117509918 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 117509918 117509918 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.2025 p.L675 0.988 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 28 15 34.88 37 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117509918 117509918 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 117509918 117509918 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.2025 p.L675 0.988 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 26 19 42.22 27 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117509950 117509950 + Nonsense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 117509950 117509950 C G SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known nonsense c.2057 p.S686* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 8 5 38.46 17 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117527316 117527316 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 117527316 117527316 G A SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.2182 p.D728N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 37 12 24.49 52 0 0.00 PTGFRN 5738 genome.wustl.edu 37 1 117532752 117532752 + RNA SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 117532752 117532752 G T SNP PTGFRN ENST00000497385 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTGFRN HGNC ENSG00000134247 16 3 15.79 25 0 0.00 PTGR1 22949 genome.wustl.edu 37 9 114325402 114325402 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 114325402 114325402 C G SNP PTGR1 ENST00000309195 human ensembl 70_37 -1 known nonstop c.989 p.*330S 0.161 NULL pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 28 6 17.65 36 0 0.00 PTGR1 22949 genome.wustl.edu 37 9 114359674 114359674 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 114359674 114359674 T G SNP PTGR1 ENST00000309195 human ensembl 70_37 -1 known missense c.29 p.K10T 1.000 superfamily_GroES-like,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 15 8 34.78 37 0 0.00 PTGS2 5743 genome.wustl.edu 37 1 186645143 186645143 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 186645143 186645143 G A SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known nonsense c.1144 p.Q382* 0.989 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 113 64 36.16 126 0 0.00 PTGS2 5743 genome.wustl.edu 37 1 186646909 186646909 + Silent SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 186646909 186646909 T G SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known silent c.511 p.R171 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 18 10 35.71 26 0 0.00 PTGS2 5743 genome.wustl.edu 37 1 186648219 186648219 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186648219 186648219 C T SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known missense c.284 p.R95Q 0.848 superfamily_Haem_peroxidase pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 23 26 53.06 72 0 0.00 PTH1R 5745 genome.wustl.edu 37 3 46940273 46940273 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46940273 46940273 G C SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.760 p.E254Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 9 9 47.37 15 0 0.00 PTH1R 5745 genome.wustl.edu 37 3 46944832 46944832 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 46944832 46944832 G A SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1468 p.G490R 1.000 prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 6 16 72.73 29 0 0.00 PTH1R 5745 genome.wustl.edu 37 3 46944832 46944832 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 46944832 46944832 G A SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1468 p.G490R 1.000 prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 6 17 73.91 48 0 0.00 PTH1R 5745 genome.wustl.edu 37 3 46945099 46945099 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 46945099 46945099 G C SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1735 p.E579Q 0.113 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 48 14 22.58 61 0 0.00 PTH2 113091 genome.wustl.edu 37 19 49926559 49926559 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49926559 49926559 C A SNP PTH2 ENST00000270631 human ensembl 70_37 -1 known missense c.38 p.R13L 0.979 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 25 3 10.71 15 0 0.00 PTH2R 5746 genome.wustl.edu 37 2 209224740 209224740 + RNA SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 209224740 209224740 C G SNP PTH2R ENST00000413482 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PTH2R HGNC ENSG00000144407 11 7 38.89 27 0 0.00 PTH2R 5746 genome.wustl.edu 37 2 209224921 209224921 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 209224921 209224921 G A SNP PTH2R ENST00000413482 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors PTH2R HGNC ENSG00000144407 20 16 44.44 26 0 0.00 PTH2R 5746 genome.wustl.edu 37 2 209358187 209358187 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 209358187 209358187 C T SNP PTH2R ENST00000272847 human ensembl 70_37 +1 known missense c.1456 p.P486S 0.807 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 18 6 25.00 38 0 0.00 PTK2 5747 genome.wustl.edu 37 8 141685663 141685663 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141685663 141685663 C A SNP PTK2 ENST00000520460 human ensembl 70_37 -1 known rna NULL NULL 0.195 - - - no_errors PTK2 HGNC ENSG00000169398 37 15 28.85 58 0 0.00 PTK2 5747 genome.wustl.edu 37 8 141813692 141813692 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 141813692 141813692 C A SNP PTK2 ENST00000395218 human ensembl 70_37 -1 known missense c.925 p.D309Y 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 38 19 32.76 120 0 0.00 PTK2 5747 genome.wustl.edu 37 8 141874446 141874446 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 141874446 141874446 C T SNP PTK2 ENST00000395218 human ensembl 70_37 -1 known missense c.415 p.E139K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 93 11 10.48 98 0 0.00 PTK2B 2185 genome.wustl.edu 37 8 27279825 27279825 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 27279825 27279825 G A SNP PTK2B ENST00000346049 human ensembl 70_37 +1 known missense c.476 p.R159Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 34 14 29.17 55 0 0.00 PTK2B 2185 genome.wustl.edu 37 8 27294966 27294966 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 27294966 27294966 G A SNP PTK2B ENST00000346049 human ensembl 70_37 +1 known missense c.1480 p.E494K 0.983 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 29 6 17.14 42 0 0.00 PTK2B 2185 genome.wustl.edu 37 8 27296867 27296868 + Frame_Shift_Ins INS - - C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 27296867 27296868 - C INS PTK2B ENST00000346049 human ensembl 70_37 +1 known frame_shift_ins c.1786_1787 p.I597fs 1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 19 6 24.00 36 0 0.00 PTK6 5753 genome.wustl.edu 37 20 62160943 62160943 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 62160943 62160943 G A SNP PTK6 ENST00000217185 human ensembl 70_37 -1 known silent c.1302 p.F434 0.827 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 81 27 25.00 145 0 0.00 PTK6 5753 genome.wustl.edu 37 20 62163883 62163883 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62163883 62163883 G A SNP PTK6 ENST00000217185 human ensembl 70_37 -1 known silent c.828 p.L276 0.971 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 31 67 67.68 65 0 0.00 PTK7 5754 genome.wustl.edu 37 6 43100468 43100468 + Missense_Mutation SNP A A G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 6 43100468 43100468 A G SNP PTK7 ENST00000471863 human ensembl 70_37 +1 putative missense c.1271 p.N424S 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PTK7 HGNC ENSG00000112655 31 20 38.46 72 0 0.00 PTK7 5754 genome.wustl.edu 37 6 43109524 43109524 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 43109524 43109524 G T SNP PTK7 ENST00000230419 human ensembl 70_37 +1 known missense c.1737 p.Q579H 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 6 17 73.91 38 0 0.00 PTK7 5754 genome.wustl.edu 37 6 43112169 43112169 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43112169 43112169 C T SNP PTK7 ENST00000461389 human ensembl 70_37 +1 known silent c.36 p.L12 0.001 NULL NULL - no_errors PTK7 HGNC ENSG00000112655 20 8 28.57 47 0 0.00 PTMA 5757 genome.wustl.edu 37 2 232576648 232576648 + Nonsense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 232576648 232576648 G T SNP PTMA ENST00000341369 human ensembl 70_37 +1 known nonsense c.169 p.E57* 1.000 pfam_Pro/parathymosin pfam_Pro/parathymosin - no_errors PTMA HGNC ENSG00000187514 34 4 10.53 29 0 0.00 PTOV1 53635 genome.wustl.edu 37 19 50363362 50363362 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 50363362 50363362 C T SNP PTOV1 ENST00000221557 human ensembl 70_37 +1 known missense c.995 p.S332L 1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 32 11 25.58 51 0 0.00 PTOV1-AS1 100506033 genome.wustl.edu 37 19 50342092 50342092 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 50342092 50342092 G C SNP PTOV1-AS1 ENST00000596521 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PTOV1-AS1 HGNC ENSG00000268006 7 6 46.15 8 0 0.00 PTOV1-AS1 100506033 genome.wustl.edu 37 19 50354091 50354091 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 50354091 50354091 G A SNP PTOV1-AS1 ENST00000600742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTOV1-AS1 HGNC ENSG00000268006 50 10 16.67 30 0 0.00 PTP4A1 7803 genome.wustl.edu 37 6 64282609 64282609 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64282609 64282609 G A SNP PTP4A1 ENST00000578299 human ensembl 70_37 +1 putative missense c.24 p.M8I 1.000 NULL NULL - no_errors PTP4A1 HGNC ENSG00000112245 14 12 46.15 26 0 0.00 PTP4A2 8073 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 26 4 13.33 31 0 0.00 PTP4A2 8073 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 27 6 18.18 16 0 0.00 PTP4A3 11156 genome.wustl.edu 37 8 142437923 142437923 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 142437923 142437923 C A SNP PTP4A3 ENST00000329397 human ensembl 70_37 +1 known missense c.403 p.Q135K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTP4A3 HGNC ENSG00000184489 44 13 22.81 86 0 0.00 PTPDC1 138639 genome.wustl.edu 37 9 96850123 96850123 + Missense_Mutation SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 96850123 96850123 A G SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known missense c.265 p.N89D 0.002 smart_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 97 14 12.61 49 0 0.00 PTPDC1 138639 genome.wustl.edu 37 9 96857672 96857672 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 96857672 96857672 G A SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known silent c.528 p.V176 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 93 18 16.22 86 0 0.00 PTPDC1 138639 genome.wustl.edu 37 9 96860086 96860086 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 96860086 96860086 G C SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known missense c.1076 p.R359P 0.967 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 20 17 45.95 23 0 0.00 PTPLA 9200 genome.wustl.edu 37 10 17636383 17636383 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 17636383 17636383 C T SNP PTPLA ENST00000361271 human ensembl 70_37 -1 known splice_site c.606-1 e6-1 1.000 - - - no_errors PTPLA HGNC ENSG00000165996 60 17 22.08 78 0 0.00 PTPLA 9200 genome.wustl.edu 37 10 17646048 17646049 + Splice_Site INS - - A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 10 17646048 17646049 - A INS PTPLA ENST00000361271 human ensembl 70_37 -1 known splice_site_ins c.258-3_258-2 e2-2 1.000:0.005 - - - no_errors PTPLA HGNC ENSG00000165996 20 3 13.04 41 0 0.00 PTPLAD1 51495 genome.wustl.edu 37 15 65868827 65868827 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 65868827 65868827 C G SNP PTPLAD1 ENST00000561763 human ensembl 70_37 +1 putative rna NULL NULL 0.998 - - - no_errors PTPLAD1 HGNC ENSG00000074696 35 17 32.69 39 0 0.00 PTPN1 5770 genome.wustl.edu 37 20 49191165 49191165 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49191165 49191165 C T SNP PTPN1 ENST00000371621 human ensembl 70_37 +1 known nonsense c.466 p.R156* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 18 9 33.33 46 0 0.00 PTPN12 5782 genome.wustl.edu 37 7 77240091 77240091 + Missense_Mutation SNP G G C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 77240091 77240091 G C SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.772 p.E258Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 30 13 30.23 57 0 0.00 PTPN12 5782 genome.wustl.edu 37 7 77256266 77256266 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 77256266 77256266 G A SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.1270 p.E424K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 12 9 42.86 15 0 0.00 PTPN12 5782 genome.wustl.edu 37 7 77256663 77256663 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 77256663 77256663 C G SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known nonsense c.1667 p.S556* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 21 13 38.24 25 0 0.00 PTPN12 5782 genome.wustl.edu 37 7 77267950 77267950 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 77267950 77267950 C T SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.2183 p.A728V 0.009 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 12 33 73.33 25 0 0.00 PTPN12 5782 genome.wustl.edu 37 7 77267950 77267950 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 77267950 77267950 C T SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.2183 p.A728V 0.009 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 45 107 70.39 173 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87638211 87638211 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 87638211 87638211 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.1326 p.S442 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 17 4 19.05 20 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87643569 87643569 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 87643569 87643569 G C SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1590 p.M530I 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 94 51 35.17 141 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87653625 87653625 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 87653625 87653625 C G SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1681 p.L561V 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 32 16 33.33 40 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87653763 87653763 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 87653763 87653763 G A SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1702 p.E568K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,smart_Band_41_domain pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 44 27 38.03 75 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87671990 87671990 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 87671990 87671990 G A SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.3018 p.Q1006 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 35 19 35.19 34 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87685874 87685874 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 87685874 87685874 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.4146 p.V1382 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 29 9 23.68 32 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87693987 87693987 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 87693987 87693987 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.5240 p.S1747L 0.011 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 118 88 42.31 176 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87693987 87693987 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 4 87693987 87693987 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.5240 p.S1747L 0.011 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 53 27 33.75 24 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87707030 87707030 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 87707030 87707030 G C SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.6301 p.E2101Q 0.676 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 44 26 37.14 45 0 0.00 PTPN13 5783 genome.wustl.edu 37 4 87731118 87731118 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 87731118 87731118 T G SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known nonsense c.7295 p.L2432* 0.997 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 53 16 23.19 65 0 0.00 PTPN14 5784 genome.wustl.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 214549657 214549657 G A SNP PTPN14 ENST00000366956 human ensembl 70_37 -1 known nonsense c.2812 p.R938* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 35 28 43.75 35 0 0.00 PTPN14 5784 genome.wustl.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 214549657 214549657 G A SNP PTPN14 ENST00000366956 human ensembl 70_37 -1 known nonsense c.2812 p.R938* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 97 80 44.94 162 0 0.00 PTPN14 5784 genome.wustl.edu 37 1 214706239 214706239 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 214706239 214706239 C A SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 0.996 - - - no_errors PTPN14 HGNC ENSG00000152104 36 4 10.00 40 0 0.00 PTPN14 5784 genome.wustl.edu 37 1 214706660 214706660 + RNA SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 214706660 214706660 C A SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors PTPN14 HGNC ENSG00000152104 25 5 16.67 38 0 0.00 PTPN14 5784 genome.wustl.edu 37 1 214706672 214706672 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 214706672 214706672 G T SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PTPN14 HGNC ENSG00000152104 26 5 16.13 34 0 0.00 PTPN2 5771 genome.wustl.edu 37 18 12830990 12830990 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 12830990 12830990 C G SNP PTPN2 ENST00000309660 human ensembl 70_37 -1 known missense c.312 p.Q104H 1.000 pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 37 6 13.95 41 0 0.00 PTPN21 11099 genome.wustl.edu 37 14 88945915 88945915 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 88945915 88945915 G T SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known silent c.1860 p.V620 0.981 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 92 36 28.12 93 0 0.00 PTPN21 11099 genome.wustl.edu 37 14 88983588 88983588 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 88983588 88983588 G A SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known silent c.198 p.L66 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 83 24 22.43 124 0 0.00 PTPN21 11099 genome.wustl.edu 37 14 89016638 89016638 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 89016638 89016638 C G SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known missense c.124 p.E42Q 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 26 18 40.91 37 0 0.00 PTPN22 26191 genome.wustl.edu 37 1 114380957 114380957 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 114380957 114380957 G T SNP PTPN22 ENST00000359785 human ensembl 70_37 -1 known missense c.1065 p.D355E 0.001 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 34 9 20.93 37 0 0.00 PTPN22 26191 genome.wustl.edu 37 1 114401660 114401660 + Silent SNP A A G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 114401660 114401660 A G SNP PTPN22 ENST00000359785 human ensembl 70_37 -1 known silent c.237 p.D79 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 28 21 42.86 55 0 0.00 PTPN23 25930 genome.wustl.edu 37 3 47447426 47447426 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47447426 47447426 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known missense c.436 p.H146Y 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 23 13 36.11 59 0 0.00 PTPN23 25930 genome.wustl.edu 37 3 47447988 47447988 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 47447988 47447988 G T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known missense c.645 p.K215N 0.998 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 16 3 15.79 33 0 0.00 PTPN23 25930 genome.wustl.edu 37 3 47449934 47449934 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 47449934 47449934 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.1284 p.L428 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 35 47 57.32 58 0 0.00 PTPN23 25930 genome.wustl.edu 37 3 47451199 47451199 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 47451199 47451199 G A SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.2004 p.L668 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 35 18 33.96 42 0 0.00 PTPN23 25930 genome.wustl.edu 37 3 47454054 47454054 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 47454054 47454054 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.4368 p.V1456 0.995 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 22 19 46.34 27 0 0.00 PTPN3 5774 genome.wustl.edu 37 9 112200443 112200443 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 112200443 112200443 G C SNP PTPN3 ENST00000374541 human ensembl 70_37 -1 known missense c.538 p.Q180E 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN3 HGNC ENSG00000070159 88 32 26.45 126 0 0.00 PTPN4 5775 genome.wustl.edu 37 2 120658344 120658344 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 120658344 120658344 G A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known silent c.726 p.L242 1.000 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Ez/rad/moesin,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC ENSG00000088179 81 16 16.49 69 0 0.00 PTPN4 5775 genome.wustl.edu 37 2 120702698 120702698 + Missense_Mutation SNP C C G TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 120702698 120702698 C G SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.1397 p.P466R 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC ENSG00000088179 37 7 15.91 8 0 0.00 PTPN4 5775 genome.wustl.edu 37 2 120702805 120702805 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 120702805 120702805 G A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC ENSG00000088179 33 12 26.67 38 0 0.00 PTPN4 5775 genome.wustl.edu 37 2 120725438 120725438 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 120725438 120725438 C A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.2584 p.L862I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC ENSG00000088179 23 21 47.73 48 0 0.00 PTPN5 84867 genome.wustl.edu 37 11 18750523 18750523 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 18750523 18750523 C G SNP PTPN5 ENST00000358540 human ensembl 70_37 -1 known missense c.1656 p.M552I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 66 20 23.26 66 0 0.00 PTPN5 84867 genome.wustl.edu 37 11 18751071 18751071 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18751071 18751071 G T SNP PTPN5 ENST00000358540 human ensembl 70_37 -1 known silent c.1533 p.I511 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 30 21 41.18 93 0 0.00 PTPRA 5786 genome.wustl.edu 37 20 2945566 2945566 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 20 2945566 2945566 G C SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.998 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 72 12 14.29 60 0 0.00 PTPRA 5786 genome.wustl.edu 37 20 2945628 2945628 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 2945628 2945628 C T SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known silent c.228 p.F76 0.944 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 23 11 32.35 26 0 0.00 PTPRA 5786 genome.wustl.edu 37 20 2967413 2967413 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2967413 2967413 G A SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known missense c.478 p.E160K 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 105 76 41.99 152 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70946731 70946731 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 70946731 70946731 G T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.5213 p.S1738Y 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 50 11 18.03 62 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70954692 70954692 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 70954692 70954692 G A SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.4191 p.L1397 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 84 38 31.15 76 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70956771 70956771 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 70956771 70956771 C G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.4021 p.D1341H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 20 22 52.38 47 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70964988 70964988 + Missense_Mutation SNP T T G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 70964988 70964988 T G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.3188 p.D1063A 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 22 18 45.00 33 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70965766 70965766 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 70965766 70965766 C G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.2944 p.V982L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 19 11 35.48 36 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70983807 70983807 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 70983807 70983807 C T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.1987 p.E663K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 34 21 38.18 81 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 70989914 70989914 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 70989914 70989914 G A SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.1173 p.L391 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 40 27 40.30 80 0 0.00 PTPRB 5787 genome.wustl.edu 37 12 71029767 71029767 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 71029767 71029767 C T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.135 p.R45 0.967 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 39 12 23.53 42 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198663212 198663212 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 198663212 198663212 G A SNP PTPRC ENST00000413409 human ensembl 70_37 +1 putative missense c.166 p.D56N 0.056 NULL pfam_PTP_recept_N - no_errors PTPRC HGNC ENSG00000081237 22 20 47.62 58 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198700745 198700745 + Splice_Site SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 198700745 198700745 G C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known splice_site c.1865-1 e17-1 1.000 - - - no_errors PTPRC HGNC ENSG00000081237 34 7 17.07 65 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198701647 198701647 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 198701647 198701647 G C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.2104 p.D702H 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 22 10 31.25 41 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198701657 198701657 + Nonsense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 198701657 198701657 C G SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known nonsense c.2114 p.S705* 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 24 32 57.14 41 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198704312 198704314 + In_Frame_Del DEL TGT TGT - TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 198704312 198704314 TGT - DEL PTPRC ENST00000442510 human ensembl 70_37 +1 known in_frame_del c.2334_2336 p.V781in_frame_del 0.992:0.992:0.990 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 19 9 32.14 39 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198711006 198711006 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 198711006 198711006 A C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.2412 p.E804D 0.930 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 16 6 27.27 29 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198713197 198713197 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 198713197 198713197 G T SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.2712 p.L904F 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 18 3 14.29 80 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198718660 198718660 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 198718660 198718660 C G SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.3054 p.I1018M 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 17 5 22.73 25 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198721825 198721825 + Nonsense_Mutation SNP A A T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 198721825 198721825 A T SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known nonsense c.3433 p.K1145* 0.879 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 9 3 25.00 28 0 0.00 PTPRC 5788 genome.wustl.edu 37 1 198721850 198721850 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 198721850 198721850 C T SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.3458 p.S1153F 0.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 13 8 38.10 19 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8319890 8319890 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 8319890 8319890 C G SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.5611 p.D1871H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 37 15 28.85 62 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8341196 8341196 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 8341196 8341196 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.5020 p.R1674C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 22 10 31.25 46 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8341854 8341854 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 8341854 8341854 C A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4786 p.V1596F 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 42 16 27.59 84 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8389298 8389298 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 8389298 8389298 C G SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4320 p.W1440C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 66 25 27.47 118 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8389318 8389318 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 8389318 8389318 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4300 p.E1434K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 43 29 40.28 97 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8454584 8454584 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 8454584 8454584 C T SNP PTPRD ENST00000355233 human ensembl 70_37 -1 known missense c.2653 p.D885N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 15 4 21.05 35 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8465527 8465527 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 8465527 8465527 T C SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.3653 p.Q1218R 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 61 15 19.74 85 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8484375 8484375 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 8484375 8484375 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.3157 p.L1053F 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 54 9 14.29 58 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8486257 8486257 + Nonsense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 8486257 8486257 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known nonsense c.2560 p.Q854* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 70 19 21.35 90 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8499699 8499699 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 8499699 8499699 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.2270 p.G757D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 44 20 31.25 48 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8499796 8499796 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 8499796 8499796 A T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.2173 p.S725T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 13 6 31.58 16 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8504366 8504366 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 8504366 8504366 G T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.1717 p.Q573K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 27 3 10.00 33 0 0.00 PTPRD 5789 genome.wustl.edu 37 9 8518128 8518128 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 8518128 8518128 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known silent c.1263 p.P421 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 17 32 65.31 30 0 0.00 PTPRE 5791 genome.wustl.edu 37 10 129883836 129883836 + RNA SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 10 129883836 129883836 C T SNP PTPRE ENST00000479896 human ensembl 70_37 +1 known rna NULL NULL 0.929 - - - no_errors PTPRE HGNC ENSG00000132334 30 7 18.92 28 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44019601 44019601 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44019601 44019601 C G SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known nonsense c.368 p.S123* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 42 27 39.13 53 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44044575 44044575 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 44044575 44044575 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known silent c.663 p.A221 0.726 smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 5 10 66.67 36 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44054441 44054441 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 44054441 44054441 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.719 p.S240N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 26 15 36.59 31 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44057179 44057179 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44057179 44057179 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.1486 p.D496N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 6 9 60.00 9 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44063670 44063670 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 44063670 44063670 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.2065 p.D689N 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 70 17 19.54 90 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44070878 44070878 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 44070878 44070878 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.3153 p.Q1051H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 17 3 15.00 27 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44071938 44071938 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44071938 44071938 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.3511 p.E1171Q 0.006 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 83 37 30.83 71 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44086197 44086197 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 44086197 44086197 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.5311 p.E1771Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 94 20 17.54 116 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44087718 44087718 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 44087718 44087718 G A SNP PTPRF ENST00000477970 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC ENSG00000142949 28 16 36.36 43 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44088218 44088218 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 44088218 44088218 G C SNP PTPRF ENST00000477970 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPRF HGNC ENSG00000142949 8 8 50.00 12 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44088789 44088789 + RNA SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 44088789 44088789 G A SNP PTPRF ENST00000496447 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTPRF HGNC ENSG00000142949 20 7 25.93 26 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44088825 44088825 + RNA SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 44088825 44088825 C G SNP PTPRF ENST00000496447 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC ENSG00000142949 21 4 16.00 32 0 0.00 PTPRF 5792 genome.wustl.edu 37 1 44089323 44089323 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44089323 44089323 C T SNP PTPRF ENST00000496447 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC ENSG00000142949 19 15 44.12 15 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62063909 62063909 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 62063909 62063909 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.592 p.G198R 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 43 15 25.86 53 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62153697 62153697 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62153697 62153697 C T SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.893 p.S298L 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 9 9 50.00 24 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62180801 62180801 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 62180801 62180801 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known silent c.1284 p.R428 0.694 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 54 16 22.86 64 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62253428 62253428 + Nonsense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 62253428 62253428 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known nonsense c.2808 p.W936* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 51 26 33.77 40 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62263226 62263226 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 62263226 62263226 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.3637 p.G1213S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 11 7 38.89 111 0 0.00 PTPRG 5793 genome.wustl.edu 37 3 62267354 62267354 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 62267354 62267354 C T SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known silent c.3882 p.I1294 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 3 12 80.00 53 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55702891 55702891 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 55702891 55702891 C G SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known missense c.2362 p.E788Q 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 32 20 38.46 45 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55702910 55702910 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 55702910 55702910 C T SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.2343 p.K781 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 35 19 35.19 49 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55705544 55705544 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 55705544 55705544 C G SNP PTPRH ENST00000588559 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors PTPRH HGNC ENSG00000080031 31 9 22.50 31 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55708498 55708498 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 55708498 55708498 G A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.1977 p.L659 0.781 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 55 16 22.54 44 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55713513 55713513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55713513 55713513 C A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known missense c.1064 p.R355I 0.025 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 54 47 46.53 127 0 0.00 PTPRH 5794 genome.wustl.edu 37 19 55713638 55713638 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 55713638 55713638 G A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.939 p.I313 0.905 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 101 50 33.11 124 0 0.00 PTPRJ 5795 genome.wustl.edu 37 11 48149588 48149588 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 48149588 48149588 G T SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known silent c.1350 p.V450 0.952 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 23 29 55.77 32 0 0.00 PTPRJ 5795 genome.wustl.edu 37 11 48157793 48157793 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 48157793 48157793 C G SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known missense c.1818 p.I606M 0.144 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 23 10 30.30 36 0 0.00 PTPRJ 5795 genome.wustl.edu 37 11 48186061 48186061 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 48186061 48186061 G A SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known silent c.3849 p.Q1283 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 31 19 38.00 66 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128318103 128318103 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 128318103 128318103 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.2746 p.D916H 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 24 52 68.42 38 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128399990 128399990 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 128399990 128399990 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1851 p.L617F 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 36 29 44.62 52 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128403634 128403634 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 128403634 128403634 C T SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known silent c.1725 p.T575 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 18 4 18.18 148 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128411102 128411102 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 128411102 128411102 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1198 p.E400Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 22 17 43.59 43 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128505667 128505667 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 128505667 128505667 C T SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 51 11 17.74 53 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128643077 128643077 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 128643077 128643077 G C SNP PTPRK ENST00000525459 human ensembl 70_37 -1 putative missense c.602 p.S201C 0.004 NULL pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 32 23 41.82 47 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128643434 128643434 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 128643434 128643434 G C SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.245 p.S82C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 203 76 27.24 301 0 0.00 PTPRK 5796 genome.wustl.edu 37 6 128840283 128840283 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 128840283 128840283 G C SNP PTPRK ENST00000368202 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPRK HGNC ENSG00000152894 20 18 47.37 27 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8143731 8143731 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 18 8143731 8143731 C T SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.2254 p.L752 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 90 32 26.23 77 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8252485 8252485 + Splice_Site SNP G G T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 8252485 8252485 G T SNP PTPRM ENST00000580170 human ensembl 70_37 +1 novel splice_site c.2555-1 e18-1 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 55 19 25.68 99 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8253378 8253378 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 18 8253378 8253378 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.2723 p.C908Y 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 2 4 66.67 12 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8296421 8296421 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 8296421 8296421 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.2813 p.R938T 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 34 4 10.53 54 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8370921 8370921 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 8370921 8370921 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.3091 p.E1031Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 29 14 32.56 40 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8379198 8379198 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 8379198 8379198 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.3649 p.E1217Q 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 18 7 28.00 28 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8380408 8380408 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 18 8380408 8380408 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.3904 p.D1302N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 70 36 33.96 100 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8387204 8387204 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 8387204 8387204 C T SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4182 p.G1394 0.001 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 64 13 16.88 70 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8394576 8394576 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 8394576 8394576 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4314 p.L1438 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 63 14 18.18 62 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8394576 8394576 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 8394576 8394576 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4314 p.L1438 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 39 8 17.02 36 0 0.00 PTPRM 5797 genome.wustl.edu 37 18 8406235 8406235 + RNA SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 18 8406235 8406235 G A SNP PTPRM ENST00000580949 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 38 18 32.14 34 0 0.00 PTPRN 5798 genome.wustl.edu 37 2 220154978 220154978 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220154978 220154978 C T SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known silent c.2910 p.V970 1.000 smart_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 27 21 43.75 44 0 0.00 PTPRN 5798 genome.wustl.edu 37 2 220161732 220161732 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 220161732 220161732 C G SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known missense c.2211 p.K737N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 29 25 46.30 65 0 0.00 PTPRN 5798 genome.wustl.edu 37 2 220164721 220164721 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220164721 220164721 G A SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known silent c.1422 p.I474 0.984 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 37 28 43.08 103 0 0.00 PTPRN 5798 genome.wustl.edu 37 2 220172265 220172265 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 220172265 220172265 G A SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known nonsense c.181 p.Q61* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 24 16 40.00 60 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157333463 157333463 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 157333463 157333463 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.3062 p.A1021V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 67 28 29.47 96 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157361625 157361625 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 157361625 157361625 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known silent c.2940 p.L980 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 29 11 27.50 26 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157387953 157387953 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 7 157387953 157387953 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.2542 p.A848T 0.581 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 6 27 81.82 49 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157926524 157926524 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 157926524 157926524 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known silent c.1470 p.A490 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 103 15 12.71 130 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157926700 157926700 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 157926700 157926700 G C SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.1294 p.R432G 0.005 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 77 28 26.67 113 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 157985024 157985024 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 157985024 157985024 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.613 p.A205T 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 33 5 13.16 39 0 0.00 PTPRN2 5799 genome.wustl.edu 37 7 158109594 158109594 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 158109594 158109594 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.263 p.P88L 0.801 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 19 9 32.14 44 0 0.00 PTPRO 5800 genome.wustl.edu 37 12 15637046 15637046 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15637046 15637046 G C SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 6 12 66.67 45 0 0.00 PTPRO 5800 genome.wustl.edu 37 12 15661681 15661681 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15661681 15661681 G A SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.1444 p.E482K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 14 3 17.65 24 0 0.00 PTPRO 5800 genome.wustl.edu 37 12 15718545 15718545 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 15718545 15718545 G T SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.2730 p.K910N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 28 8 22.22 73 0 0.00 PTPRQ 374462 genome.wustl.edu 37 12 80838173 80838173 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80838173 80838173 G T SNP PTPRQ ENST00000266688 human ensembl 70_37 +1 known missense c.48 p.E16D 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 9 8 47.06 23 0 0.00 PTPRQ 374462 genome.wustl.edu 37 12 81064201 81064201 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 81064201 81064201 C G SNP PTPRQ ENST00000266688 human ensembl 70_37 +1 known missense c.6520 p.L2174V 0.612 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 66 12 15.38 80 0 0.00 PTPRR 5801 genome.wustl.edu 37 12 71050540 71050540 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 71050540 71050540 C T SNP PTPRR ENST00000283228 human ensembl 70_37 -1 known silent c.1824 p.L608 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 38 19 33.33 61 0 0.00 PTPRR 5801 genome.wustl.edu 37 12 71286716 71286716 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 71286716 71286716 G A SNP PTPRR ENST00000283228 human ensembl 70_37 -1 known nonsense c.100 p.Q34* 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 20 23 53.49 44 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5219479 5219479 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5219479 5219479 C T SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known splice_site c.3769-1 e22-1 1.000 - - - no_errors PTPRS HGNC ENSG00000105426 21 22 51.16 59 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5231417 5231417 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 5231417 5231417 C G SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known missense c.2062 p.E688Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 15 10 40.00 35 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5243946 5243946 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 5243946 5243946 G C SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.1539 p.L513 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 28 6 17.65 42 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5244287 5244287 + Missense_Mutation SNP C C T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 5244287 5244287 C T SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known missense c.1198 p.E400K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 52 13 20.00 92 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5265145 5265145 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 5265145 5265145 G T SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.442 p.R148 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 22 3 12.00 71 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5273571 5273571 + Silent SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5273571 5273571 T G SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.261 p.A87 0.079 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 39 12 23.53 75 0 0.00 PTPRS 5802 genome.wustl.edu 37 19 5274291 5274291 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 5274291 5274291 G A SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.156 p.F52 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 8 12 60.00 23 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40713386 40713386 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 40713386 40713386 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known nonsense c.4138 p.R1380* 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 70 11 13.58 64 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40713456 40713456 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 40713456 40713456 G T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.4068 p.H1356Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 54 44 44.90 61 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40714415 40714415 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 40714415 40714415 C A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.3991 p.D1331Y 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 45 32 41.56 42 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40727169 40727169 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 40727169 40727169 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.3804 p.F1268 0.976 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 50 17 25.37 55 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40733326 40733326 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 40733326 40733326 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.3489 p.L1163 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 26 12 31.58 39 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40735447 40735447 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 40735447 40735447 C A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.3435 p.R1145S 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 76 26 25.24 112 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40877392 40877392 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 40877392 40877392 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.2304 p.G768 0.542 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 21 5 19.23 39 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40944408 40944408 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 40944408 40944408 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.2094 p.L698 0.863 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 128 40 23.81 118 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 40979319 40979319 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 20 40979319 40979319 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.1814 p.T605M 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 92 15 14.02 130 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41101176 41101176 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 20 41101176 41101176 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 47 15 24.19 52 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41385239 41385239 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 41385239 41385239 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.722 p.R241H 0.998 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 19 12 38.71 27 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41400150 41400150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 41400150 41400150 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.609 p.V203 0.999 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 38 16 29.63 52 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41400170 41400170 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 41400170 41400170 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known nonsense c.589 p.R197* 1.000 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 25 5 16.67 62 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41400179 41400179 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 41400179 41400179 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.580 p.H194Y 1.000 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 17 28 62.22 34 0 0.00 PTPRT 11122 genome.wustl.edu 37 20 41408922 41408922 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 41408922 41408922 G C SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.504 p.V168 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 44 19 30.16 62 0 0.00 PTPRU 10076 genome.wustl.edu 37 1 29585841 29585841 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29585841 29585841 C T SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known silent c.546 p.L182 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 51 38 42.70 74 0 0.00 PTPRU 10076 genome.wustl.edu 37 1 29641984 29641984 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 29641984 29641984 C G SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3358 p.L1120V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 42 9 17.65 37 0 0.00 PTPRU 10076 genome.wustl.edu 37 1 29642524 29642524 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 29642524 29642524 T G SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3404 p.I1135S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 70 29 29.29 114 1 0.87 PTPRU 10076 genome.wustl.edu 37 1 29647330 29647330 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 29647330 29647330 C T SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3851 p.S1284F 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 32 13 28.89 46 0 0.00 PTPRU 10076 genome.wustl.edu 37 1 29652207 29652207 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 29652207 29652207 C G SNP PTPRU ENST00000465525 human ensembl 70_37 +1 known rna NULL NULL 0.857 - - - no_errors PTPRU HGNC ENSG00000060656 50 15 23.08 54 0 0.00 PTPRU 10076 genome.wustl.edu 37 1 29652239 29652239 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 29652239 29652239 G A SNP PTPRU ENST00000465525 human ensembl 70_37 +1 known rna NULL NULL 0.210 - - - no_errors PTPRU HGNC ENSG00000060656 26 20 43.48 32 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121513405 121513405 + RNA SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 121513405 121513405 A C SNP PTPRZ1 ENST00000471837 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPRZ1 HGNC ENSG00000106278 47 11 18.97 22 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121513476 121513476 + RNA SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 121513476 121513476 C T SNP PTPRZ1 ENST00000471837 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPRZ1 HGNC ENSG00000106278 22 6 21.43 32 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121608065 121608065 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 121608065 121608065 C A SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.185 p.S62Y 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 11 17 60.71 46 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121652525 121652525 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 121652525 121652525 C A SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.3425 p.P1142H 0.999 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 21 3 12.50 28 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121652558 121652558 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 121652558 121652558 C G SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.3458 p.S1153C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 63 10 13.70 62 0 0.00 PTPRZ1 5803 genome.wustl.edu 37 7 121659177 121659177 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 121659177 121659177 G C SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known splice_site c.4844-1 e13-1 1.000 - - - no_errors PTPRZ1 HGNC ENSG00000106278 48 13 21.31 67 0 0.00 PTRH1 138428 genome.wustl.edu 37 9 130476435 130476435 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 130476435 130476435 C T SNP PTRH1 ENST00000419060 human ensembl 70_37 -1 known missense c.589 p.D197N 0.997 pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro - no_errors PTRH1 HGNC ENSG00000187024 22 9 29.03 28 0 0.00 PTTG1IP 754 genome.wustl.edu 37 21 46285354 46285354 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 46285354 46285354 G C SNP PTTG1IP ENST00000330938 human ensembl 70_37 -1 known missense c.124 p.Q42E 0.043 smart_Plexin-like smart_Plexin-like - no_errors PTTG1IP HGNC ENSG00000183255 35 30 46.15 67 0 0.00 PTTG2 10744 genome.wustl.edu 37 4 37962321 37962321 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 37962321 37962321 C G SNP PTTG2 ENST00000504686 human ensembl 70_37 +1 known missense c.266 p.S89C 0.016 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC ENSG00000250254 72 14 16.28 65 0 0.00 PTX3 5806 genome.wustl.edu 37 3 157154774 157154774 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 157154774 157154774 G A SNP PTX3 ENST00000295927 human ensembl 70_37 +1 known missense c.52 p.E18K 0.175 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 93 16 14.68 83 0 0.00 PTX4 390667 genome.wustl.edu 37 16 1536174 1536174 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 1536174 1536174 G A SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known silent c.1203 p.L401 0.657 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 73 12 14.12 61 0 0.00 PTX4 390667 genome.wustl.edu 37 16 1536493 1536493 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 1536493 1536493 C T SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.884 p.R295Q 0.888 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 30 24 44.44 39 0 0.00 PTX4 390667 genome.wustl.edu 37 16 1537463 1537463 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 1537463 1537463 G C SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.650 p.S217C 0.000 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 59 29 32.95 78 0 0.00 PTX4 390667 genome.wustl.edu 37 16 1537772 1537772 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 1537772 1537772 C T SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.022 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 44 21 32.31 38 0 0.00 PTX4 390667 genome.wustl.edu 37 16 1538815 1538815 + Silent SNP C C A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 16 1538815 1538815 C A SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known silent c.96 p.G32 0.014 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 42 6 12.50 42 0 0.00 PUF60 22827 genome.wustl.edu 37 8 144900399 144900399 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 144900399 144900399 C G SNP PUF60 ENST00000526683 human ensembl 70_37 -1 known missense c.567 p.Q189H 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 69 50 42.02 54 0 0.00 PUF60 22827 genome.wustl.edu 37 8 144904017 144904017 + Missense_Mutation SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 144904017 144904017 T C SNP PUF60 ENST00000526683 human ensembl 70_37 -1 known missense c.178 p.T60A 1.000 tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 24 3 11.11 43 0 0.00 PUF60 22827 genome.wustl.edu 37 8 144904725 144904725 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144904725 144904725 C G SNP PUF60 ENST00000524570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PUF60 HGNC ENSG00000179950 76 51 40.16 67 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31406085 31406085 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 31406085 31406085 G C SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.3540 p.I1180M 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 38 29 43.28 51 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31409541 31409541 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 31409541 31409541 C G SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.3384 p.Q1128H 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 44 5 10.20 42 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31437722 31437722 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 31437722 31437722 C T SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.2122 p.D708N 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 42 23 35.38 109 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31438980 31438980 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 31438980 31438980 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known silent c.1935 p.F645 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 141 20 12.42 105 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31439030 31439030 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 31439030 31439030 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known nonsense c.1885 p.Q629* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 130 19 12.75 94 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31465384 31465384 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31465384 31465384 G C SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.1011 p.F337L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 22 13 37.14 24 0 0.00 PUM1 9698 genome.wustl.edu 37 1 31478834 31478834 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31478834 31478834 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known nonsense c.586 p.Q196* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 15 10 40.00 14 0 0.00 PUM2 23369 genome.wustl.edu 37 2 20453700 20453700 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 20453700 20453700 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.2952 p.Q984H 1.000 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 55 24 30.38 108 0 0.00 PUM2 23369 genome.wustl.edu 37 2 20458120 20458120 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 20458120 20458120 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.2368 p.D790H 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 35 10 22.22 30 0 0.00 PUM2 23369 genome.wustl.edu 37 2 20478361 20478361 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 20478361 20478361 G A SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.1940 p.S647L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 62 14 18.42 102 0 0.00 PUM2 23369 genome.wustl.edu 37 2 20494214 20494214 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 20494214 20494214 G C SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.1075 p.Q359E 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 30 8 21.05 78 0 0.00 PUM2 23369 genome.wustl.edu 37 2 20512059 20512059 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 20512059 20512059 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.286 p.E96Q 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 36 20 35.71 60 0 0.00 PURA 5813 genome.wustl.edu 37 5 139494072 139494072 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139494072 139494072 C T SNP PURA ENST00000331327 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 16 7 30.43 34 0 0.00 PURA 5813 genome.wustl.edu 37 5 139494400 139494400 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 139494400 139494400 G C SNP PURA ENST00000331327 human ensembl 70_37 +1 known missense c.634 p.E212Q 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 19 10 34.48 28 0 0.00 PURG 29942 genome.wustl.edu 37 8 30889857 30889857 + Missense_Mutation SNP T T A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 30889857 30889857 T A SNP PURG ENST00000475541 human ensembl 70_37 -1 known missense c.442 p.R148W 0.995 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 14 20 58.82 19 0 0.00 PURG 29942 genome.wustl.edu 37 8 30889906 30889906 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 30889906 30889906 C G SNP PURG ENST00000475541 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 175 37 17.37 200 0 0.00 PURG 29942 genome.wustl.edu 37 8 30890108 30890108 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 30890108 30890108 C G SNP PURG ENST00000475541 human ensembl 70_37 -1 known missense c.191 p.R64P 0.990 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 28 18 39.13 49 0 0.00 PURG 29942 genome.wustl.edu 37 8 30890282 30890282 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 30890282 30890282 C T SNP PURG ENST00000475541 human ensembl 70_37 -1 known missense c.17 p.R6Q 0.996 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 0 6 100.00 22 0 0.00 PUS1 80324 genome.wustl.edu 37 12 132425950 132425950 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132425950 132425950 G A SNP PUS1 ENST00000376649 human ensembl 70_37 +1 known missense c.658 p.E220K 0.550 superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 29 27 48.21 41 0 0.00 PUS10 150962 genome.wustl.edu 37 2 61175312 61175312 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 61175312 61175312 C G SNP PUS10 ENST00000316752 human ensembl 70_37 -1 known missense c.1317 p.K439N 0.996 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 35 23 39.66 37 0 0.00 PUS10 150962 genome.wustl.edu 37 2 61236108 61236108 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 61236108 61236108 C G SNP PUS10 ENST00000316752 human ensembl 70_37 -1 known missense c.169 p.D57H 0.996 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 36 9 20.00 57 0 0.00 PUS7 54517 genome.wustl.edu 37 7 105103125 105103125 + Missense_Mutation SNP T T C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 105103125 105103125 T C SNP PUS7 ENST00000356362 human ensembl 70_37 -1 known missense c.1700 p.D567G 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 21 24 53.33 55 0 0.00 PUS7 54517 genome.wustl.edu 37 7 105148719 105148719 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 105148719 105148719 C G SNP PUS7 ENST00000356362 human ensembl 70_37 -1 known missense c.241 p.E81Q 0.945 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 36 33 47.83 61 0 0.00 PUSL1 126789 genome.wustl.edu 37 1 1246426 1246426 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1246426 1246426 C G SNP PUSL1 ENST00000379031 human ensembl 70_37 +1 known silent c.837 p.L279 0.037 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA - no_errors PUSL1 HGNC ENSG00000169972 89 31 25.83 129 0 0.00 PVR 5817 genome.wustl.edu 37 19 45162162 45162162 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 45162162 45162162 C T SNP PVR ENST00000425690 human ensembl 70_37 +1 known missense c.1144 p.P382S 0.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVR HGNC ENSG00000073008 45 27 36.99 79 0 0.00 PVRIG 79037 genome.wustl.edu 37 7 99818034 99818034 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99818034 99818034 T A SNP PVRIG ENST00000317271 human ensembl 70_37 +1 known missense c.416 p.F139Y 0.917 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 72 24 25.00 111 0 0.00 PVRL1 5818 genome.wustl.edu 37 11 119494210 119494210 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 119494210 119494210 G A SNP PVRL1 ENST00000531468 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors PVRL1 HGNC ENSG00000110400 26 32 55.17 90 0 0.00 PVRL1 5818 genome.wustl.edu 37 11 119535753 119535753 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 119535753 119535753 C T SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known missense c.1258 p.D420N 0.959 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC ENSG00000110400 43 17 28.33 59 0 0.00 PVRL1 5818 genome.wustl.edu 37 11 119548547 119548547 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 119548547 119548547 C A SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known nonsense c.451 p.E151* 1.000 pfam_CD80_C2-set pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC ENSG00000110400 34 4 10.53 50 0 0.00 PVRL1 5818 genome.wustl.edu 37 11 119549182 119549182 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 119549182 119549182 C T SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC ENSG00000110400 6 3 33.33 22 0 0.00 PVRL2 5819 genome.wustl.edu 37 19 45375367 45375367 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 45375367 45375367 G A SNP PVRL2 ENST00000252483 human ensembl 70_37 +1 known missense c.736 p.E246K 0.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 55 7 11.29 36 0 0.00 PVRL2 5819 genome.wustl.edu 37 19 45381604 45381604 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 45381604 45381604 G A SNP PVRL2 ENST00000252485 human ensembl 70_37 +1 known silent c.1167 p.R389 0.999 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 44 6 12.00 41 0 0.00 PVRL2 5819 genome.wustl.edu 37 19 45381610 45381610 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 45381610 45381610 G A SNP PVRL2 ENST00000252485 human ensembl 70_37 +1 known silent c.1173 p.R391 1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 47 7 12.96 38 0 0.00 PVRL2 5819 genome.wustl.edu 37 19 45391612 45391612 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45391612 45391612 C A SNP PVRL2 ENST00000252483 human ensembl 70_37 +1 known silent c.1593 p.V531 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 33 21 38.89 42 0 0.00 PVRL3 25945 genome.wustl.edu 37 3 110837539 110837539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 110837539 110837539 C A SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.539 p.S180Y 1.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 15 3 16.67 30 0 0.00 PVRL3 25945 genome.wustl.edu 37 3 110837554 110837554 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 110837554 110837554 G T SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.554 p.G185V 1.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 53 22 29.33 35 0 0.00 PVRL3 25945 genome.wustl.edu 37 3 110852841 110852841 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 110852841 110852841 C G SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.1429 p.P477A 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 30 15 33.33 57 0 0.00 PVRL3 25945 genome.wustl.edu 37 3 110863797 110863797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 110863797 110863797 G C SNP PVRL3 ENST00000493615 human ensembl 70_37 +1 putative missense c.1052 p.G351A 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 140 43 23.37 60 0 0.00 PVRL3 25945 genome.wustl.edu 37 3 110912071 110912071 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 110912071 110912071 G A SNP PVRL3 ENST00000493615 human ensembl 70_37 +1 putative missense c.1309 p.D437N 0.985 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 31 21 40.38 52 0 0.00 PVRL4 81607 genome.wustl.edu 37 1 161043069 161043069 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 161043069 161043069 C G SNP PVRL4 ENST00000368012 human ensembl 70_37 -1 known silent c.1254 p.L418 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PVRL4 HGNC ENSG00000143217 50 8 13.79 70 0 0.00 PVT1 5820 genome.wustl.edu 37 8 129082589 129082589 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 129082589 129082589 G C SNP PVT1 ENST00000522875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PVT1 HGNC ENSG00000249859 31 19 38.00 28 0 0.00 PWP1 11137 genome.wustl.edu 37 12 108082489 108082489 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 108082489 108082489 G A SNP PWP1 ENST00000412830 human ensembl 70_37 +1 known missense c.229 p.E77K 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 27 7 20.59 25 0 0.00 PWP1 11137 genome.wustl.edu 37 12 108086770 108086770 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 108086770 108086770 C G SNP PWP1 ENST00000552760 human ensembl 70_37 +1 known missense c.427 p.H143D 0.000 NULL NULL - no_errors PWP1 HGNC ENSG00000136045 33 19 36.54 65 0 0.00 PWP2 5822 genome.wustl.edu 37 21 45538667 45538667 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45538667 45538667 C T SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.1004 p.S335L 0.711 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 62 35 36.08 68 0 0.00 PWP2 5822 genome.wustl.edu 37 21 45539369 45539369 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 21 45539369 45539369 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.1153 p.G385R 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 77 24 23.53 117 0 0.00 PWP2 5822 genome.wustl.edu 37 21 45547816 45547816 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 45547816 45547816 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.2144 p.R715H 1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 22 6 21.43 32 0 0.00 PWP2 5822 genome.wustl.edu 37 21 45547964 45547964 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 45547964 45547964 C G SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known silent c.2292 p.L764 0.998 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 23 8 25.81 30 0 0.00 PWP2 5822 genome.wustl.edu 37 21 45548023 45548023 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 21 45548023 45548023 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.2351 p.R784K 0.000 pfam_SSU_processome_Utp12 pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 12 8 40.00 25 0 0.00 PWWP2A 114825 genome.wustl.edu 37 5 159520131 159520131 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 159520131 159520131 C T SNP PWWP2A ENST00000307063 human ensembl 70_37 -1 known missense c.1526 p.R509H 1.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors PWWP2A HGNC ENSG00000170234 32 11 25.58 43 0 0.00 PWWP2A 114825 genome.wustl.edu 37 5 159520795 159520795 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 159520795 159520795 G C SNP PWWP2A ENST00000307063 human ensembl 70_37 -1 known missense c.862 p.Q288E 1.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors PWWP2A HGNC ENSG00000170234 63 21 24.71 65 0 0.00 PXDC1 221749 genome.wustl.edu 37 6 3738335 3738335 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 3738335 3738335 C T SNP PXDC1 ENST00000380283 human ensembl 70_37 -1 known missense c.304 p.E102K 1.000 pfam_Phox,superfamily_Phox pfam_Phox,superfamily_Phox - no_errors PXDC1 HGNC ENSG00000168994 58 23 28.40 71 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1647149 1647149 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 1647149 1647149 A T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.3943 p.C1315S 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 60 8 11.76 72 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1652209 1652209 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 1652209 1652209 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.3343 p.D1115N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 20 12 37.50 55 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1652918 1652918 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 1652918 1652918 G A SNP PXDN ENST00000252804 human ensembl 70_37 -1 known silent c.2634 p.F878 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 26 15 36.59 52 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1653335 1653335 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 1653335 1653335 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known silent c.2217 p.Q739 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 141 49 25.79 174 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1667376 1667376 + Splice_Site SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 1667376 1667376 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known splice_site c.1567+1 e12+1 1.000 - - - no_errors PXDN HGNC ENSG00000130508 38 24 38.71 57 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1677580 1677580 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 1677580 1677580 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 80 22 21.57 122 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1680739 1680739 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 1680739 1680739 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.808 p.E270K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 29 9 23.68 29 0 0.00 PXDN 7837 genome.wustl.edu 37 2 1687886 1687886 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1687886 1687886 C G SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.454 p.D152H 0.929 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 42 27 39.13 64 0 0.00 PXDNL 137902 genome.wustl.edu 37 8 52321474 52321474 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 52321474 52321474 C T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.2710 p.E904K 0.683 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC ENSG00000147485 13 17 56.67 18 0 0.00 PXDNL 137902 genome.wustl.edu 37 8 52325734 52325734 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 52325734 52325734 G C SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.1880 p.S627C 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC ENSG00000147485 31 24 43.64 51 0 0.00 PXDNL 137902 genome.wustl.edu 37 8 52359699 52359699 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 8 52359699 52359699 G T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.1390 p.Q464K 0.685 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC ENSG00000147485 37 18 32.73 41 0 0.00 PXDNL 137902 genome.wustl.edu 37 8 52384809 52384809 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 52384809 52384809 G A SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known silent c.750 p.T250 0.967 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC ENSG00000147485 43 9 17.31 42 0 0.00 PXDNL 137902 genome.wustl.edu 37 8 52721742 52721742 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 52721742 52721742 G T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.163 p.L55I 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC ENSG00000147485 45 11 19.64 99 0 0.00 PXK 54899 genome.wustl.edu 37 3 58394714 58394714 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 58394714 58394714 G C SNP PXK ENST00000356151 human ensembl 70_37 +1 known missense c.1294 p.E432Q 0.999 pfscan_Prot_kinase_cat_dom pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom - no_errors PXK HGNC ENSG00000168297 64 19 22.89 86 0 0.00 PXMP2 5827 genome.wustl.edu 37 12 133272473 133272473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 133272473 133272473 C G SNP PXMP2 ENST00000317479 human ensembl 70_37 +1 known missense c.240 p.F80L 0.991 NULL pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 33 18 35.29 32 0 0.00 PXMP2 5827 genome.wustl.edu 37 12 133272500 133272500 + Missense_Mutation SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 12 133272500 133272500 C G SNP PXMP2 ENST00000317479 human ensembl 70_37 +1 known missense c.267 p.F89L 0.930 NULL pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 64 10 13.51 64 0 0.00 PXN 5829 genome.wustl.edu 37 12 120650348 120650348 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 120650348 120650348 G A SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.1587 p.F529 0.510 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 40 21 34.43 35 0 0.00 PXN 5829 genome.wustl.edu 37 12 120650348 120650348 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 120650348 120650348 G A SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.1587 p.F529 0.510 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 53 9 14.52 60 0 0.00 PXN 5829 genome.wustl.edu 37 12 120652925 120652925 + Missense_Mutation SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 120652925 120652925 T C SNP PXN ENST00000267257 human ensembl 70_37 -1 known missense c.1127 p.K376R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 17 9 34.62 32 0 0.00 PXN 5829 genome.wustl.edu 37 12 120653737 120653737 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 120653737 120653737 C T SNP PXN ENST00000397506 human ensembl 70_37 -1 known missense c.119 p.R40H 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PXN HGNC ENSG00000089159 13 9 40.91 32 0 0.00 PXN 5829 genome.wustl.edu 37 12 120659471 120659471 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 120659471 120659471 G T SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.786 p.A262 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 29 4 12.12 63 0 0.00 PYCR1 5831 genome.wustl.edu 37 17 79892976 79892976 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 79892976 79892976 G A SNP PYCR1 ENST00000329875 human ensembl 70_37 -1 known silent c.366 p.T122 0.997 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_NADP_OxRdtase_F420,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 3 18 85.71 58 0 0.00 PYGB 5834 genome.wustl.edu 37 20 25228957 25228957 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 25228957 25228957 C T SNP PYGB ENST00000216962 human ensembl 70_37 +1 known missense c.143 p.T48M 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 63 20 24.10 100 1 0.99 PYGB 5834 genome.wustl.edu 37 20 25255328 25255328 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 25255328 25255328 C G SNP PYGB ENST00000216962 human ensembl 70_37 +1 known missense c.629 p.T210S 0.991 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 128 109 45.80 193 0 0.00 PYGB 5834 genome.wustl.edu 37 20 25258981 25258981 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 25258981 25258981 G A SNP PYGB ENST00000216962 human ensembl 70_37 +1 known silent c.882 p.L294 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 81 56 40.88 100 0 0.00 PYGB 5834 genome.wustl.edu 37 20 25260930 25260930 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 25260930 25260930 C G SNP PYGB ENST00000216962 human ensembl 70_37 +1 known missense c.1121 p.A374G 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 28 4 12.50 48 0 0.00 PYGL 5836 genome.wustl.edu 37 14 51404508 51404508 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 51404508 51404508 C T SNP PYGL ENST00000216392 human ensembl 70_37 -1 known silent c.291 p.Q97 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 161 35 17.86 214 1 0.47 PYGM 5837 genome.wustl.edu 37 11 64518734 64518734 + RNA SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 64518734 64518734 G A SNP PYGM ENST00000462303 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PYGM HGNC ENSG00000068976 9 4 30.77 23 0 0.00 PYGM 5837 genome.wustl.edu 37 11 64519472 64519472 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 64519472 64519472 G A SNP PYGM ENST00000164139 human ensembl 70_37 -1 known silent c.1692 p.F564 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 69 44 38.94 125 0 0.00 PYGM 5837 genome.wustl.edu 37 11 64525261 64525261 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 64525261 64525261 A G SNP PYGM ENST00000164139 human ensembl 70_37 -1 known missense c.650 p.V217A 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 27 25 48.08 67 0 0.00 PYGO1 26108 genome.wustl.edu 37 15 55839278 55839278 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 55839278 55839278 G T SNP PYGO1 ENST00000302000 human ensembl 70_37 -1 known missense c.203 p.A68D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 25 4 13.79 58 0 0.00 PYHIN1 149628 genome.wustl.edu 37 1 158908876 158908876 + Missense_Mutation SNP A A C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 158908876 158908876 A C SNP PYHIN1 ENST00000368140 human ensembl 70_37 +1 known missense c.418 p.K140Q 0.002 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 25 13 34.21 41 0 0.00 PYROXD1 79912 genome.wustl.edu 37 12 21621553 21621553 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 21621553 21621553 G A SNP PYROXD1 ENST00000240651 human ensembl 70_37 +1 known missense c.1368 p.M456I 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 40 13 24.53 22 0 0.00 PYROXD2 84795 genome.wustl.edu 37 10 100150489 100150489 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 100150489 100150489 G T SNP PYROXD2 ENST00000370575 human ensembl 70_37 -1 known missense c.1158 p.S386R 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 36 4 10.00 53 0 0.00 PYROXD2 84795 genome.wustl.edu 37 10 100152754 100152754 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 100152754 100152754 G C SNP PYROXD2 ENST00000370575 human ensembl 70_37 -1 known missense c.872 p.S291C 0.999 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 38 16 29.63 43 0 0.00 PYROXD2 84795 genome.wustl.edu 37 10 100154958 100154958 + Frame_Shift_Del DEL C C - TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 10 100154958 100154958 C - DEL PYROXD2 ENST00000370575 human ensembl 70_37 -1 known frame_shift_del c.780 p.S261fs 0.892 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 17 2 10.53 29 0 0.00 PYURF 100996939 genome.wustl.edu 37 4 89443102 89443102 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 89443102 89443102 C T SNP PYURF ENST00000273968 human ensembl 70_37 -1 known missense c.282 p.M94I 1.000 NULL pfam_UPF0434/Trm112 - no_errors PYURF HGNC ENSG00000145337 32 37 53.62 44 0 0.00 PYY 5697 genome.wustl.edu 37 17 42030544 42030544 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 42030544 42030544 C G SNP PYY ENST00000360085 human ensembl 70_37 -1 known missense c.202 p.D68H 0.009 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PYY HGNC ENSG00000131096 25 24 48.98 52 0 0.00 PZP 5858 genome.wustl.edu 37 12 9307355 9307355 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 9307355 9307355 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.3631 p.E1211K 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 71 61 46.21 96 0 0.00 PZP 5858 genome.wustl.edu 37 12 9316798 9316798 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 9316798 9316798 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.2545 p.E849K 0.000 pfam_SV_autoAg pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 32 20 38.46 33 0 0.00 PZP 5858 genome.wustl.edu 37 12 9321533 9321533 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 9321533 9321533 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.2039 p.R680Q 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 17 4 19.05 42 0 0.00 PZP 5858 genome.wustl.edu 37 12 9322060 9322060 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 9322060 9322060 G C SNP PZP ENST00000261336 human ensembl 70_37 -1 known nonsense c.1967 p.S656* 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 24 10 29.41 58 0 0.00 PZP 5858 genome.wustl.edu 37 12 9346779 9346779 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 9346779 9346779 G A SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.1148 p.S383F 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 63 36 36.36 103 0 0.00 PZP 5858 genome.wustl.edu 37 12 9354941 9354941 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 12 9354941 9354941 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.454 p.E152K 0.766 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 51 10 16.39 47 0 0.00 PZP 5858 genome.wustl.edu 37 12 9355190 9355190 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 9355190 9355190 G T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.358 p.L120M 0.002 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 87 47 35.07 145 0 0.00 QARS 5859 genome.wustl.edu 37 3 49137041 49137041 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 49137041 49137041 G A SNP QARS ENST00000306125 human ensembl 70_37 -1 known silent c.1428 p.V476 0.779 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC ENSG00000172053 28 11 28.21 37 0 0.00 QARS 5859 genome.wustl.edu 37 3 49137068 49137068 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49137068 49137068 G T SNP QARS ENST00000306125 human ensembl 70_37 -1 known nonsense c.1401 p.Y467* 0.999 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC ENSG00000172053 27 4 12.90 21 0 0.00 QARS 5859 genome.wustl.edu 37 3 49138860 49138860 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49138860 49138860 G A SNP QARS ENST00000420147 human ensembl 70_37 -1 known missense c.772 p.P258S 1.000 NULL pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Gln-tRNA-synth_Ib_RNA-bd_2 - no_errors QARS HGNC ENSG00000172053 31 13 29.55 57 0 0.00 QKI 9444 genome.wustl.edu 37 6 163984548 163984548 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 163984548 163984548 C T SNP QKI ENST00000361752 human ensembl 70_37 +1 known missense c.731 p.P244L 0.963 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 34 22 39.29 65 0 0.00 QKI 9444 genome.wustl.edu 37 6 163984559 163984559 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 163984559 163984559 G T SNP QKI ENST00000361752 human ensembl 70_37 +1 known missense c.742 p.G248C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 32 23 41.82 64 0 0.00 QPCT 25797 genome.wustl.edu 37 2 37596909 37596909 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 37596909 37596909 G A SNP QPCT ENST00000338415 human ensembl 70_37 +1 known missense c.805 p.E269K 0.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 112 68 37.78 140 0 0.00 QPCTL 54814 genome.wustl.edu 37 19 46198872 46198872 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46198872 46198872 G A SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.529 p.G177R 0.020 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 109 45 29.22 172 1 0.58 QPCTL 54814 genome.wustl.edu 37 19 46198873 46198873 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46198873 46198873 G T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.530 p.G177V 0.001 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 107 42 28.19 167 0 0.00 QPCTL 54814 genome.wustl.edu 37 19 46201892 46201892 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 46201892 46201892 C T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.721 p.R241W 1.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 38 7 15.56 54 0 0.00 QPCTL 54814 genome.wustl.edu 37 19 46206302 46206302 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 46206302 46206302 C T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.1144 p.L382F 1.000 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 62 12 16.22 97 0 0.00 QPRT 23475 genome.wustl.edu 37 16 29706186 29706186 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29706186 29706186 C G SNP QPRT ENST00000395384 human ensembl 70_37 +1 known missense c.215 p.S72C 0.503 pfam_Quinolinate_PRibosylTrfase_N,tigrfam_NadC pfam_Quinolinate_PRibosylTrfase_C,pfam_Quinolinate_PRibosylTrfase_N,superfamily_Quinolinate_PRibosylTrfase_C,tigrfam_NadC - no_errors QPRT HGNC ENSG00000103485 56 44 44.00 100 0 0.00 QRFP 347148 genome.wustl.edu 37 9 133769049 133769049 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 133769049 133769049 C A SNP QRFP ENST00000343079 human ensembl 70_37 -1 known silent c.177 p.L59 0.000 pfam_P518 pfam_P518 - no_errors QRFP HGNC ENSG00000188710 72 26 26.53 95 0 0.00 QRFPR 84109 genome.wustl.edu 37 4 122301714 122301714 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 122301714 122301714 C T SNP QRFPR ENST00000394427 human ensembl 70_37 -1 known missense c.89 p.R30Q 0.930 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 22 7 24.14 22 0 0.00 QRICH1 54870 genome.wustl.edu 37 3 49094619 49094619 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 49094619 49094619 G A SNP QRICH1 ENST00000357496 human ensembl 70_37 -1 known silent c.1014 p.N338 0.828 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC ENSG00000198218 7 12 63.16 37 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74276491 74276491 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74276491 74276491 G A SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known silent c.4005 p.V1335 0.996 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 21 14 40.00 34 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74287142 74287142 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 74287142 74287142 G A SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known silent c.3168 p.A1056 0.011 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 33 22 40.00 50 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74288410 74288410 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 74288410 74288410 C T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1900 p.G634S 0.007 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 38 10 20.83 17 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74288517 74288517 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 74288517 74288517 G T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1793 p.P598H 0.004 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 32 25 43.86 55 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74288517 74288517 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 74288517 74288517 G T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1793 p.P598H 0.004 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 34 26 43.33 49 0 0.00 QRICH2 84074 genome.wustl.edu 37 17 74289415 74289415 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 74289415 74289415 G C SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.895 p.L299V 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 58 39 40.21 134 1 0.74 QRSL1 55278 genome.wustl.edu 37 6 107110891 107110891 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 107110891 107110891 G A SNP QRSL1 ENST00000369046 human ensembl 70_37 +1 known silent c.1197 p.V399 0.993 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 20 16 44.44 28 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32948716 32948716 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 32948716 32948716 G A SNP QSER1 ENST00000527250 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors QSER1 HGNC ENSG00000060749 31 13 29.55 59 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32953621 32953621 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 32953621 32953621 C A SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.430 p.L144I 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 25 8 24.24 48 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32955319 32955319 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 32955319 32955319 C T SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.2128 p.H710Y 0.971 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 6 3 33.33 25 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32955635 32955635 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 32955635 32955635 T G SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.2444 p.F815C 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 12 10 45.45 30 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32975573 32975573 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 32975573 32975573 G C SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.3961 p.D1321H 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 18 18 50.00 40 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32975658 32975658 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 32975658 32975658 G A SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.4046 p.G1349E 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 16 18 52.94 24 0 0.00 QSER1 79832 genome.wustl.edu 37 11 32995031 32995031 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 32995031 32995031 T C SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.4907 p.M1636T 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 17 11 39.29 42 0 0.00 QSOX1 5768 genome.wustl.edu 37 1 180158779 180158779 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 180158779 180158779 C A SNP QSOX1 ENST00000367602 human ensembl 70_37 +1 known missense c.1110 p.F370L 0.025 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 10 10 50.00 37 0 0.00 QSOX2 169714 genome.wustl.edu 37 9 139108447 139108447 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 9 139108447 139108447 C T SNP QSOX2 ENST00000358701 human ensembl 70_37 -1 known missense c.1208 p.R403Q 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 69 73 51.41 143 0 0.00 QSOX2 169714 genome.wustl.edu 37 9 139113694 139113694 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 139113694 139113694 C A SNP QSOX2 ENST00000358701 human ensembl 70_37 -1 known missense c.769 p.V257F 0.601 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 42 10 19.23 57 0 0.00 QTRT1 81890 genome.wustl.edu 37 19 10823475 10823475 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 10823475 10823475 G A SNP QTRT1 ENST00000250237 human ensembl 70_37 +1 known silent c.903 p.L301 0.998 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans - no_errors QTRT1 HGNC ENSG00000213339 8 17 68.00 31 0 0.00 QTRTD1 79691 genome.wustl.edu 37 3 113798754 113798754 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 113798754 113798754 C A SNP QTRTD1 ENST00000281273 human ensembl 70_37 +1 known missense c.748 p.L250I 1.000 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC ENSG00000151576 27 3 10.00 36 0 0.00 QTRTD1 79691 genome.wustl.edu 37 3 113798870 113798870 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 113798870 113798870 C G SNP QTRTD1 ENST00000281273 human ensembl 70_37 +1 known missense c.864 p.F288L 1.000 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC ENSG00000151576 45 11 19.64 49 0 0.00 R3HCC1 203069 genome.wustl.edu 37 8 23148956 23148956 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 23148956 23148956 G C SNP R3HCC1 ENST00000411463 human ensembl 70_37 +1 known missense c.1055 p.G352A 0.982 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC ENSG00000104679 41 16 28.07 44 0 0.00 R3HCC1 203069 genome.wustl.edu 37 8 23153596 23153596 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 23153596 23153596 C T SNP R3HCC1 ENST00000411463 human ensembl 70_37 +1 known missense c.1429 p.P477S 0.002 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC ENSG00000104679 31 20 39.22 49 0 0.00 R3HCC1L 27291 genome.wustl.edu 37 10 99969375 99969375 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 99969375 99969375 G A SNP R3HCC1L ENST00000298999 human ensembl 70_37 +1 known missense c.1504 p.D502N 0.865 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 17 12 41.38 40 0 0.00 R3HCC1L 27291 genome.wustl.edu 37 10 99995795 99995795 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 99995795 99995795 G C SNP R3HCC1L ENST00000298999 human ensembl 70_37 +1 known missense c.2143 p.A715P 1.000 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 32 8 20.00 32 0 0.00 R3HDM1 23518 genome.wustl.edu 37 2 136389450 136389450 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 136389450 136389450 C T SNP R3HDM1 ENST00000264160 human ensembl 70_37 +1 known missense c.577 p.P193S 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 34 19 35.85 62 0 0.00 R3HDM2 22864 genome.wustl.edu 37 12 57677635 57677635 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 57677635 57677635 G A SNP R3HDM2 ENST00000347140 human ensembl 70_37 -1 known silent c.1101 p.G367 0.772 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 188 27 12.44 232 0 0.00 R3HDM4 91300 genome.wustl.edu 37 19 899468 899468 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 899468 899468 G A SNP R3HDM4 ENST00000361574 human ensembl 70_37 -1 known silent c.675 p.V225 0.630 pfscan_R3H_ss-bd pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC ENSG00000198858 23 20 46.51 27 0 0.00 RAB10 10890 genome.wustl.edu 37 2 26257498 26257498 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 26257498 26257498 C T SNP RAB10 ENST00000264710 human ensembl 70_37 +1 known silent c.21 p.D7 1.000 smart_Small_GTPase_ARF,smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC ENSG00000084733 47 26 35.62 83 0 0.00 RAB11A 8766 genome.wustl.edu 37 15 66180230 66180230 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 66180230 66180230 G C SNP RAB11A ENST00000569304 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RAB11A HGNC ENSG00000103769 83 23 21.50 116 0 0.00 RAB11B 9230 genome.wustl.edu 37 19 8464928 8464928 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 8464928 8464928 C T SNP RAB11B ENST00000328024 human ensembl 70_37 +1 known silent c.222 p.R74 0.914 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 30 8 21.05 42 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37729373 37729373 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 37729373 37729373 C A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known nonsense c.2947 p.E983* 0.019 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 10 15 60.00 21 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37729590 37729590 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 37729590 37729590 G C SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known silent c.2730 p.L910 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 11 12 52.17 21 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37730596 37730596 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 37730596 37730596 G C SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1724 p.S575C 0.001 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 31 14 31.11 53 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37730614 37730614 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 37730614 37730614 G A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1706 p.S569F 0.007 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 40 13 24.53 55 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37732367 37732367 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 37732367 37732367 C T SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1288 p.E430K 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 27 11 28.95 28 0 0.00 RAB11FIP1 80223 genome.wustl.edu 37 8 37734763 37734763 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 37734763 37734763 C A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.678 p.L226F 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 17 4 19.05 37 0 0.00 RAB11FIP2 22841 genome.wustl.edu 37 10 119793517 119793517 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 119793517 119793517 C T SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.1301 p.R434K 0.003 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC ENSG00000107560 16 9 36.00 17 0 0.00 RAB11FIP2 22841 genome.wustl.edu 37 10 119798568 119798568 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 119798568 119798568 C T SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC ENSG00000107560 40 9 18.37 44 0 0.00 RAB11FIP2 22841 genome.wustl.edu 37 10 119800044 119800044 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 119800044 119800044 C T SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.386 p.R129Q 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC ENSG00000107560 6 4 40.00 25 0 0.00 RAB11FIP2 22841 genome.wustl.edu 37 10 119805356 119805356 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 119805356 119805356 C A SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.319 p.D107Y 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC ENSG00000107560 37 14 27.45 42 0 0.00 RAB11FIP2 22841 genome.wustl.edu 37 10 119805360 119805360 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 119805360 119805360 G C SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known silent c.315 p.L105 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC ENSG00000107560 79 20 20.20 124 0 0.00 RAB11FIP3 9727 genome.wustl.edu 37 16 570765 570765 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 570765 570765 C A SNP RAB11FIP3 ENST00000457159 human ensembl 70_37 +1 known missense c.2332 p.R778S 1.000 pfam_Rab-bd_FIP-RBD pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP3 HGNC ENSG00000090565 16 3 15.79 50 0 0.00 RAB11FIP4 84440 genome.wustl.edu 37 17 29857424 29857424 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 29857424 29857424 C G SNP RAB11FIP4 ENST00000325874 human ensembl 70_37 +1 known silent c.1734 p.L578 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP4 HGNC ENSG00000131242 45 9 16.67 61 0 0.00 RAB11FIP5 26056 genome.wustl.edu 37 2 73302590 73302590 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 73302590 73302590 G A SNP RAB11FIP5 ENST00000493523 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RAB11FIP5 HGNC ENSG00000135631 18 7 28.00 26 0 0.00 RAB11FIP5 26056 genome.wustl.edu 37 2 73315528 73315528 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 73315528 73315528 C G SNP RAB11FIP5 ENST00000258098 human ensembl 70_37 -1 known silent c.1218 p.L406 0.293 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP5 HGNC ENSG00000135631 112 33 22.76 141 0 0.00 RAB12 201475 genome.wustl.edu 37 18 8638222 8638222 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 8638222 8638222 G C SNP RAB12 ENST00000329286 human ensembl 70_37 +1 known missense c.697 p.E233Q 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC ENSG00000206418 18 13 41.94 46 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153954778 153954779 + RNA INS - - AC TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 153954778 153954779 - AC INS RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RAB13 HGNC ENSG00000143545 34 5 12.82 33 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153954779 153954780 + RNA DEL AC AC - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 153954779 153954780 AC - DEL RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors RAB13 HGNC ENSG00000143545 32 5 13.51 38 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153954808 153954808 + RNA SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 153954808 153954808 C T SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RAB13 HGNC ENSG00000143545 30 6 16.67 27 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153954967 153954967 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 153954967 153954967 C G SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC ENSG00000143545 63 21 25.00 60 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153955952 153955952 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 153955952 153955952 C G SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC ENSG00000143545 57 13 18.57 66 0 0.00 RAB13 5872 genome.wustl.edu 37 1 153957217 153957217 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 153957217 153957217 C G SNP RAB13 ENST00000368575 human ensembl 70_37 -1 known missense c.165 p.K55N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC ENSG00000143545 37 14 27.45 60 0 0.00 RAB14 51552 genome.wustl.edu 37 9 123943695 123943695 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 123943695 123943695 C T SNP RAB14 ENST00000373840 human ensembl 70_37 -1 known silent c.627 p.Q209 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC ENSG00000119396 22 13 37.14 41 0 0.00 RAB14 51552 genome.wustl.edu 37 9 123952910 123952910 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 123952910 123952910 C G SNP RAB14 ENST00000373840 human ensembl 70_37 -1 known missense c.206 p.G69A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC ENSG00000119396 101 23 18.40 164 0 0.00 RAB17 64284 genome.wustl.edu 37 2 238494054 238494054 + RNA SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 238494054 238494054 G A SNP RAB17 ENST00000416106 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors RAB17 HGNC ENSG00000124839 60 7 10.45 77 0 0.00 RAB19 401409 genome.wustl.edu 37 7 140111670 140111670 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 140111670 140111670 C G SNP RAB19 ENST00000275874 human ensembl 70_37 +1 known silent c.339 p.L113 0.000 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB19 HGNC ENSG00000146955 42 13 23.64 63 0 0.00 RAB19 401409 genome.wustl.edu 37 7 140125875 140125875 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 140125875 140125875 G C SNP RAB19 ENST00000275874 human ensembl 70_37 +1 known silent c.720 p.L240 0.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB19 HGNC ENSG00000146955 18 14 43.75 36 0 0.00 RAB1B 81876 genome.wustl.edu 37 11 66039341 66039341 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66039341 66039341 G A SNP RAB1B ENST00000311481 human ensembl 70_37 +1 known splice_site c.87+1 e2+1 1.000 - - - no_errors RAB1B HGNC ENSG00000174903 40 11 21.57 75 0 0.00 RAB1B 81876 genome.wustl.edu 37 11 66039887 66039887 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66039887 66039887 C T SNP RAB1B ENST00000311481 human ensembl 70_37 +1 known missense c.235 p.R79W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1B HGNC ENSG00000174903 45 16 26.23 57 0 0.00 RAB20 55647 genome.wustl.edu 37 13 111176396 111176396 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 111176396 111176396 G C SNP RAB20 ENST00000267328 human ensembl 70_37 -1 known silent c.321 p.L107 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 22 20 47.62 48 0 0.00 RAB20 55647 genome.wustl.edu 37 13 111176517 111176517 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111176517 111176517 G A SNP RAB20 ENST00000267328 human ensembl 70_37 -1 known missense c.200 p.S67F 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 29 14 32.56 33 0 0.00 RAB23 51715 genome.wustl.edu 37 6 57054534 57054534 + RNA SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 57054534 57054534 A G SNP RAB23 ENST00000344445 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors RAB23 HGNC ENSG00000112210 9 26 74.29 49 0 0.00 RAB23 51715 genome.wustl.edu 37 6 57061377 57061377 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 57061377 57061377 G C SNP RAB23 ENST00000317483 human ensembl 70_37 -1 known missense c.269 p.S90C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB23 HGNC ENSG00000112210 8 4 33.33 9 0 0.00 RAB24 53917 genome.wustl.edu 37 5 176730095 176730095 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 176730095 176730095 G A SNP RAB24 ENST00000303270 human ensembl 70_37 -1 putative missense c.14 p.S5F 0.000 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB24 HGNC ENSG00000169228 123 41 25.00 133 0 0.00 RAB26 25837 genome.wustl.edu 37 16 2201859 2201859 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2201859 2201859 C G SNP RAB26 ENST00000210187 human ensembl 70_37 +1 known missense c.418 p.L140V 0.603 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC ENSG00000167964 79 42 34.71 78 0 0.00 RAB26 25837 genome.wustl.edu 37 16 2201870 2201870 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2201870 2201870 C G SNP RAB26 ENST00000210187 human ensembl 70_37 +1 known silent c.429 p.L143 0.973 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC ENSG00000167964 31 18 36.73 37 0 0.00 RAB28 9364 genome.wustl.edu 37 4 13462410 13462410 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 13462410 13462410 C G SNP RAB28 ENST00000330852 human ensembl 70_37 -1 known missense c.304 p.E102Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB28 HGNC ENSG00000157869 21 19 47.50 39 0 0.00 RAB2A 5862 genome.wustl.edu 37 8 61504434 61504434 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 61504434 61504434 G A SNP RAB2A ENST00000262646 human ensembl 70_37 +1 known missense c.380 p.R127K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 28 8 22.22 31 0 0.00 RAB2B 84932 genome.wustl.edu 37 14 21929394 21929394 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21929394 21929394 C T SNP RAB2B ENST00000397762 human ensembl 70_37 -1 known silent c.612 p.R204 0.033 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 36 30 45.45 47 0 0.00 RAB2B 84932 genome.wustl.edu 37 14 21936574 21936574 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 21936574 21936574 C G SNP RAB2B ENST00000397762 human ensembl 70_37 -1 known missense c.304 p.E102Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 26 5 16.13 50 0 0.00 RAB31 11031 genome.wustl.edu 37 18 9792156 9792156 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 9792156 9792156 C T SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.125 p.S42F 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB31 HGNC ENSG00000168461 27 23 46.00 50 0 0.00 RAB31 11031 genome.wustl.edu 37 18 9815133 9815133 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 9815133 9815133 G T SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.294 p.K98N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB31 HGNC ENSG00000168461 43 17 28.33 100 0 0.00 RAB31 11031 genome.wustl.edu 37 18 9845603 9845603 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 9845603 9845603 G C SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.405 p.K135N 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB31 HGNC ENSG00000168461 17 15 46.88 29 0 0.00 RAB33A 9363 genome.wustl.edu 37 X 129306117 129306117 + Silent SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 129306117 129306117 G T SNP RAB33A ENST00000257017 human ensembl 70_37 +1 known silent c.81 p.S27 0.988 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 60 35 36.84 89 0 0.00 RAB33A 9363 genome.wustl.edu 37 X 129306124 129306124 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 129306124 129306124 C A SNP RAB33A ENST00000257017 human ensembl 70_37 +1 known missense c.88 p.Q30K 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 74 14 15.91 129 0 0.00 RAB33A 9363 genome.wustl.edu 37 X 129306267 129306267 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 X 129306267 129306267 C T SNP RAB33A ENST00000257017 human ensembl 70_37 +1 known silent c.231 p.T77 0.958 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 38 27 41.54 62 0 0.00 RAB33B 83452 genome.wustl.edu 37 4 140375356 140375356 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 140375356 140375356 G A SNP RAB33B ENST00000305626 human ensembl 70_37 +1 known missense c.7 p.E3K 0.016 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 120 26 17.81 95 0 0.00 RAB33B 83452 genome.wustl.edu 37 4 140393933 140393933 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 140393933 140393933 G A SNP RAB33B ENST00000305626 human ensembl 70_37 +1 known missense c.343 p.D115N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 16 9 36.00 27 0 0.00 RAB34 83871 genome.wustl.edu 37 17 27043038 27043038 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 27043038 27043038 G A SNP RAB34 ENST00000447716 human ensembl 70_37 -1 known missense c.356 p.S119L 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 25 9 26.47 58 0 0.00 RAB35 11021 genome.wustl.edu 37 12 120534366 120534366 + Missense_Mutation SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 12 120534366 120534366 C A SNP RAB35 ENST00000432953 human ensembl 70_37 -1 known missense c.684 p.L228F 0.019 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 24 13 35.14 42 0 0.00 RAB35 11021 genome.wustl.edu 37 12 120534993 120534993 + Frame_Shift_Del DEL G G - TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 120534993 120534993 G - DEL RAB35 ENST00000432953 human ensembl 70_37 -1 known frame_shift_del c.57 p.T20fs 0.124 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 104 19 15.45 109 0 0.00 RAB35 11021 genome.wustl.edu 37 12 120535031 120535031 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 120535031 120535031 G A SNP RAB35 ENST00000432953 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 1.000 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 19 11 36.67 52 0 0.00 RAB35 11021 genome.wustl.edu 37 12 120541722 120541722 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 120541722 120541722 G A SNP RAB35 ENST00000544304 human ensembl 70_37 -1 known nonsense c.247 p.Q83* 1.000 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 44 10 18.52 66 0 0.00 RAB36 9609 genome.wustl.edu 37 22 23495275 23495275 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 22 23495275 23495275 G A SNP RAB36 ENST00000263116 human ensembl 70_37 +1 known missense c.481 p.E161K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 168 66 28.21 222 0 0.00 RAB37 326624 genome.wustl.edu 37 17 72741031 72741031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 72741031 72741031 G C SNP RAB37 ENST00000392614 human ensembl 70_37 +1 known missense c.467 p.R156T 1.000 pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 8 17 68.00 37 0 0.00 RAB39B 116442 genome.wustl.edu 37 X 154490247 154490247 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 154490247 154490247 C A SNP RAB39B ENST00000369454 human ensembl 70_37 -1 known missense c.483 p.E161D 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 30 17 36.17 67 0 0.00 RAB3C 115827 genome.wustl.edu 37 5 57879050 57879050 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 57879050 57879050 G A SNP RAB3C ENST00000282878 human ensembl 70_37 +1 known silent c.15 p.A5 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 22 18 43.90 26 0 0.00 RAB3D 9545 genome.wustl.edu 37 19 11446153 11446153 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 11446153 11446153 C T SNP RAB3D ENST00000222120 human ensembl 70_37 -1 known missense c.442 p.E148K 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3D HGNC ENSG00000105514 65 21 24.42 89 0 0.00 RAB3GAP1 22930 genome.wustl.edu 37 2 135888131 135888131 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 135888131 135888131 A G SNP RAB3GAP1 ENST00000264158 human ensembl 70_37 +1 known missense c.1076 p.D359G 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 22 6 21.43 18 0 0.00 RAB3GAP1 22930 genome.wustl.edu 37 2 135891462 135891462 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 135891462 135891462 C T SNP RAB3GAP1 ENST00000264158 human ensembl 70_37 +1 known missense c.1358 p.S453F 0.998 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 40 6 13.04 98 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220340971 220340971 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 220340971 220340971 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known silent c.2853 p.F951 0.868 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 50 9 15.25 63 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220363455 220363455 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 220363455 220363455 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known silent c.1665 p.H555 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 74 10 11.90 66 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220363789 220363789 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220363789 220363789 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known nonsense c.1561 p.Q521* 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 68 20 22.73 55 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220369645 220369645 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 220369645 220369645 G C SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known missense c.907 p.Q303E 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 81 32 28.32 101 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220440280 220440280 + RNA SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 220440280 220440280 G C SNP RAB3GAP2 ENST00000462353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 24 26 50.98 36 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220440280 220440280 + RNA SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 220440280 220440280 G C SNP RAB3GAP2 ENST00000462353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 49 41 45.05 85 0 0.00 RAB3GAP2 25782 genome.wustl.edu 37 1 220440682 220440682 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 220440682 220440682 A G SNP RAB3GAP2 ENST00000462353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 40 31 43.66 113 0 0.00 RAB3IL1 5866 genome.wustl.edu 37 11 61665758 61665758 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 61665758 61665758 C T SNP RAB3IL1 ENST00000394836 human ensembl 70_37 -1 known missense c.1141 p.E381K 1.000 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 32 5 13.51 38 0 0.00 RAB3IP 117177 genome.wustl.edu 37 12 70178523 70178523 + Missense_Mutation SNP A A C TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 70178523 70178523 A C SNP RAB3IP ENST00000550536 human ensembl 70_37 +1 known missense c.582 p.E194D 1.000 pfam_Sec2p pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 44 7 13.73 125 0 0.00 RAB40A 142684 genome.wustl.edu 37 X 102755559 102755559 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 X 102755559 102755559 C T SNP RAB40A ENST00000304236 human ensembl 70_37 -1 known silent c.126 p.P42 0.274 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 135 17 11.18 174 0 0.00 RAB40AL 282808 genome.wustl.edu 37 X 102192462 102192462 + Silent SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 102192462 102192462 G C SNP RAB40AL ENST00000218249 human ensembl 70_37 +1 known silent c.216 p.G72 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC ENSG00000102128 40 16 28.57 74 0 0.00 RAB40AL 282808 genome.wustl.edu 37 X 102192891 102192891 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 102192891 102192891 C T SNP RAB40AL ENST00000218249 human ensembl 70_37 +1 known silent c.645 p.P215 1.000 pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC ENSG00000102128 58 38 39.58 97 0 0.00 RAB40C 57799 genome.wustl.edu 37 16 675917 675917 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 675917 675917 C T SNP RAB40C ENST00000248139 human ensembl 70_37 +1 known missense c.361 p.R121W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 52 62 54.39 95 0 0.00 RAB40C 57799 genome.wustl.edu 37 16 676096 676096 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 676096 676096 G T SNP RAB40C ENST00000248139 human ensembl 70_37 +1 known missense c.540 p.M180I 1.000 smart_Ran_GTPase,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 25 4 13.79 21 0 0.00 RAB43 339122 genome.wustl.edu 37 3 128810189 128810189 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 128810189 128810189 C A SNP RAB43 ENST00000315150 human ensembl 70_37 -1 known missense c.389 p.G130V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB43 HGNC ENSG00000172780 47 6 11.32 26 0 0.00 RAB4A 5867 genome.wustl.edu 37 1 229422305 229422305 + Frame_Shift_Del DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 229422305 229422305 A - DEL RAB4A ENST00000366690 human ensembl 70_37 +1 known frame_shift_del c.104 p.K37fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4A HGNC ENSG00000168118 19 5 20.83 29 0 0.00 RAB5A 5868 genome.wustl.edu 37 3 20017662 20017662 + Splice_Site SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 20017662 20017662 G A SNP RAB5A ENST00000273047 human ensembl 70_37 +1 known splice_site c.438+1 e3+1 1.000 - - - no_errors RAB5A HGNC ENSG00000144566 43 25 36.23 53 0 0.00 RAB6A 5870 genome.wustl.edu 37 11 73431902 73431902 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 73431902 73431902 C G SNP RAB6A ENST00000310653 human ensembl 70_37 -1 known missense c.172 p.E58Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 45 12 21.05 57 0 0.00 RAB6C 84084 genome.wustl.edu 37 2 130737913 130737913 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130737913 130737913 C G SNP RAB6C ENST00000410061 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6C HGNC ENSG00000222014 19 17 47.22 11 0 0.00 RAB6C 84084 genome.wustl.edu 37 2 130738343 130738343 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 130738343 130738343 C G SNP RAB6C ENST00000410061 human ensembl 70_37 +1 known missense c.655 p.Q219E 0.160 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6C HGNC ENSG00000222014 42 26 38.24 43 0 0.00 RAB7A 7879 genome.wustl.edu 37 3 128516831 128516831 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 128516831 128516831 C G SNP RAB7A ENST00000265062 human ensembl 70_37 +1 known missense c.99 p.F33L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7A HGNC ENSG00000075785 23 20 46.51 40 0 0.00 RAB8A 4218 genome.wustl.edu 37 19 16222825 16222825 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 16222825 16222825 C G SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known missense c.114 p.I38M 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 47 16 25.40 53 0 0.00 RAB8A 4218 genome.wustl.edu 37 19 16229068 16229068 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 16229068 16229068 G A SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known missense c.157 p.D53N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 8 9 52.94 12 0 0.00 RAB8A 4218 genome.wustl.edu 37 19 16238844 16238844 + Silent SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 16238844 16238844 C G SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known silent c.423 p.L141 0.861 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 22 11 33.33 26 0 0.00 RAB8B 51762 genome.wustl.edu 37 15 63481897 63481897 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63481897 63481897 T G SNP RAB8B ENST00000321437 human ensembl 70_37 +1 known missense c.74 p.L25R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8B HGNC ENSG00000166128 31 15 32.61 62 0 0.00 RABEP1 9135 genome.wustl.edu 37 17 5257750 5257750 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5257750 5257750 C G SNP RABEP1 ENST00000262477 human ensembl 70_37 +1 known missense c.1060 p.Q354E 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 34 19 35.85 30 0 0.00 RABEP2 79874 genome.wustl.edu 37 16 28935744 28935744 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 28935744 28935744 G A SNP RABEP2 ENST00000358201 human ensembl 70_37 -1 known missense c.254 p.S85L 0.994 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 14 7 33.33 29 0 0.00 RABEPK 10244 genome.wustl.edu 37 9 127990332 127990332 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 127990332 127990332 G C SNP RABEPK ENST00000373538 human ensembl 70_37 +1 known missense c.670 p.D224H 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 74 16 17.78 43 0 0.00 RABEPK 10244 genome.wustl.edu 37 9 127995018 127995018 + Missense_Mutation SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 9 127995018 127995018 C G SNP RABEPK ENST00000373538 human ensembl 70_37 +1 known missense c.820 p.H274D 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 45 7 13.46 55 0 0.00 RABGAP1 23637 genome.wustl.edu 37 9 125748668 125748668 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125748668 125748668 C T SNP RABGAP1 ENST00000373647 human ensembl 70_37 +1 known missense c.560 p.S187L 0.991 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 24 9 27.27 64 0 0.00 RABGAP1 23637 genome.wustl.edu 37 9 125777841 125777841 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 125777841 125777841 G C SNP RABGAP1 ENST00000373647 human ensembl 70_37 +1 known silent c.1569 p.L523 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 97 12 11.01 77 0 0.00 RABGAP1 23637 genome.wustl.edu 37 9 125860125 125860125 + Splice_Site SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 9 125860125 125860125 G T SNP RABGAP1 ENST00000373647 human ensembl 70_37 +1 known splice_site c.2733+1 e21+1 1.000 - - - no_errors RABGAP1 HGNC ENSG00000011454 31 4 11.43 23 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174274226 174274226 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 174274226 174274226 G C SNP RABGAP1L ENST00000251507 human ensembl 70_37 +1 known missense c.1426 p.G476R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 26 26 50.00 24 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174274226 174274226 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 174274226 174274226 G C SNP RABGAP1L ENST00000251507 human ensembl 70_37 +1 known missense c.1426 p.G476R 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 30 26 46.43 57 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174769570 174769570 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 174769570 174769570 G A SNP RABGAP1L ENST00000489615 human ensembl 70_37 +1 known missense c.100 p.E34K 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 68 8 10.53 87 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174945277 174945277 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 174945277 174945277 G A SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known silent c.588 p.E196 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 50 10 16.67 41 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174951985 174951985 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 174951985 174951985 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.729 p.L243F 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 25 7 21.88 33 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174957856 174957856 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 174957856 174957856 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.865 p.E289Q 0.986 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 17 13 43.33 31 0 0.00 RABGAP1L 9910 genome.wustl.edu 37 1 174959019 174959019 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 174959019 174959019 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.1018 p.E340Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 39 25 39.06 54 0 0.00 RABGEF1 27342 genome.wustl.edu 37 7 66274797 66274797 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 66274797 66274797 G C SNP RABGEF1 ENST00000484547 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors RABGEF1 HGNC ENSG00000154710 27 8 22.86 54 0 0.00 RABGGTA 5875 genome.wustl.edu 37 14 24737824 24737824 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24737824 24737824 A G SNP RABGGTA ENST00000216840 human ensembl 70_37 -1 known missense c.902 p.L301P 1.000 pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 17 14 45.16 39 0 0.00 RABGGTB 5876 genome.wustl.edu 37 1 76252883 76252883 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 76252883 76252883 C T SNP RABGGTB ENST00000471759 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RABGGTB HGNC ENSG00000137955 65 22 25.29 62 0 0.00 RABGGTB 5876 genome.wustl.edu 37 1 76253045 76253046 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 76253045 76253046 - A INS RABGGTB ENST00000471759 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors RABGGTB HGNC ENSG00000137955 24 5 17.24 26 0 0.00 RABGGTB 5876 genome.wustl.edu 37 1 76255553 76255553 + RNA SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 76255553 76255553 C A SNP RABGGTB ENST00000461653 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RABGGTB HGNC ENSG00000137955 10 17 62.96 25 0 0.00 RABGGTB 5876 genome.wustl.edu 37 1 76255787 76255787 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 76255787 76255787 A C SNP RABGGTB ENST00000461653 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RABGGTB HGNC ENSG00000137955 22 5 18.52 39 0 0.00 RABIF 5877 genome.wustl.edu 37 1 202858203 202858203 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 202858203 202858203 G A SNP RABIF ENST00000367262 human ensembl 70_37 -1 known silent c.24 p.S8 0.829 NULL pfam_Mss4,superfamily_Mss4-like - no_errors RABIF HGNC ENSG00000183155 13 7 35.00 28 0 0.00 RABL2A 11159 genome.wustl.edu 37 2 114386172 114386172 + RNA SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 114386172 114386172 A G SNP RABL2A ENST00000465711 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RABL2A HGNC ENSG00000144134 1 9 90.00 16 0 0.00 RABL2B 11158 genome.wustl.edu 37 22 51205966 51205966 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 51205966 51205966 A C SNP RABL2B ENST00000465063 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 23 26 53.06 64 0 0.00 RABL2B 11158 genome.wustl.edu 37 22 51208152 51208152 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 51208152 51208152 G A SNP RABL2B ENST00000465063 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 9 8 47.06 10 0 0.00 RABL5 64792 genome.wustl.edu 37 7 100959676 100959676 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 100959676 100959676 C T SNP RABL5 ENST00000315322 human ensembl 70_37 -1 known missense c.354 p.M118I 0.132 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su - no_errors RABL5 HGNC ENSG00000128581 14 45 75.00 32 0 0.00 RABL6 55684 genome.wustl.edu 37 9 139733894 139733894 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 139733894 139733894 G T SNP RABL6 ENST00000371663 human ensembl 70_37 +1 known missense c.1717 p.D573Y 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 83 20 19.42 89 0 0.00 RABL6 55684 genome.wustl.edu 37 9 139735063 139735063 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139735063 139735063 C T SNP RABL6 ENST00000357466 human ensembl 70_37 +1 known silent c.1206 p.R402 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 23 24 51.06 65 0 0.00 RABL6 55684 genome.wustl.edu 37 9 139735412 139735412 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139735412 139735412 G C SNP RABL6 ENST00000357466 human ensembl 70_37 +1 known missense c.1555 p.E519Q 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 66 37 35.92 84 0 0.00 RAC1 5879 genome.wustl.edu 37 7 6441588 6441588 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 6441588 6441588 C T SNP RAC1 ENST00000356142 human ensembl 70_37 +1 known silent c.435 p.I145 0.074 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC ENSG00000136238 105 31 22.79 126 0 0.00 RAC1 5879 genome.wustl.edu 37 7 6441974 6441974 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 7 6441974 6441974 C T SNP RAC1 ENST00000356142 human ensembl 70_37 +1 known missense c.533 p.A178V 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC ENSG00000136238 20 10 32.26 31 0 0.00 RAC2 5880 genome.wustl.edu 37 22 37622806 37622806 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37622806 37622806 C G SNP RAC2 ENST00000249071 human ensembl 70_37 -1 known missense c.486 p.Q162H 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC2 HGNC ENSG00000128340 70 19 21.35 42 0 0.00 RAC3 5881 genome.wustl.edu 37 17 79991391 79991391 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 79991391 79991391 G T SNP RAC3 ENST00000306897 human ensembl 70_37 +1 known missense c.364 p.D122Y 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC3 HGNC ENSG00000169750 32 24 42.86 70 0 0.00 RACGAP1 29127 genome.wustl.edu 37 12 50384052 50384052 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 50384052 50384052 C T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known silent c.1898 p.*633 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 83 41 32.80 93 0 0.00 RACGAP1 29127 genome.wustl.edu 37 12 50398061 50398061 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50398061 50398061 G T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known missense c.452 p.S151Y 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 15 13 46.43 39 0 0.00 RACGAP1 29127 genome.wustl.edu 37 12 50410481 50410481 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 50410481 50410481 C T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 19 4 17.39 29 0 0.00 RAD17 5884 genome.wustl.edu 37 5 68666944 68666944 + RNA SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 68666944 68666944 T C SNP RAD17 ENST00000504177 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RAD17 HGNC ENSG00000152942 25 20 44.44 43 0 0.00 RAD17 5884 genome.wustl.edu 37 5 68680719 68680719 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 68680719 68680719 G A SNP RAD17 ENST00000380774 human ensembl 70_37 +1 known missense c.637 p.G213R 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 32 15 31.91 68 0 0.00 RAD21 5885 genome.wustl.edu 37 8 117864207 117864207 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 117864207 117864207 C G SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.1450 p.D484H 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 74 13 14.94 70 0 0.00 RAD21 5885 genome.wustl.edu 37 8 117868503 117868503 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 117868503 117868503 G A SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.839 p.S280L 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 20 5 20.00 38 0 0.00 RAD21 5885 genome.wustl.edu 37 8 117875458 117875458 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 117875458 117875458 C T SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.185 p.G62E 1.000 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 94 33 25.98 95 0 0.00 RAD21 5885 genome.wustl.edu 37 8 117875499 117875499 + Splice_Site SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 117875499 117875499 C T SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known splice_site c.145-1 e2-1 1.000 - - - no_errors RAD21 HGNC ENSG00000164754 59 19 24.36 132 0 0.00 RAD21 5885 genome.wustl.edu 37 8 117878870 117878870 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 117878870 117878870 G A SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known silent c.99 p.F33 0.996 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 64 15 18.99 44 0 0.00 RAD21L1 642636 genome.wustl.edu 37 20 1223271 1223271 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 1223271 1223271 G T SNP RAD21L1 ENST00000409241 human ensembl 70_37 +1 known nonsense c.865 p.E289* 0.961 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 19 11 36.67 30 0 0.00 RAD23A 5886 genome.wustl.edu 37 19 13059322 13059322 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13059322 13059322 C G SNP RAD23A ENST00000586534 human ensembl 70_37 +1 known missense c.428 p.S143C 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 23 51 68.92 44 0 0.00 RAD23B 5887 genome.wustl.edu 37 9 110068756 110068756 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 110068756 110068756 C T SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known nonsense c.325 p.Q109* 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 33 4 10.81 51 0 0.00 RAD23B 5887 genome.wustl.edu 37 9 110068879 110068879 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 110068879 110068879 G A SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.448 p.E150K 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 55 16 22.54 89 0 0.00 RAD23B 5887 genome.wustl.edu 37 9 110086276 110086276 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 110086276 110086276 G A SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.923 p.R308Q 1.000 pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 59 12 16.90 38 0 0.00 RAD23B 5887 genome.wustl.edu 37 9 110087185 110087185 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 110087185 110087185 G C SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.1016 p.G339A 1.000 superfamily_XPC-bd,superfamily_UBA-like,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 23 14 37.84 36 0 0.00 RAD50 10111 genome.wustl.edu 37 5 131893139 131893139 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 131893139 131893139 A G SNP RAD50 ENST00000265335 human ensembl 70_37 +1 known silent c.123 p.G41 0.999 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 30 6 16.67 43 0 0.00 RAD50 10111 genome.wustl.edu 37 5 131923747 131923747 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 131923747 131923747 C G SNP RAD50 ENST00000265335 human ensembl 70_37 +1 known silent c.1017 p.L339 0.993 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 8 7 46.67 13 0 0.00 RAD51 5888 genome.wustl.edu 37 15 41011012 41011012 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 41011012 41011012 G A SNP RAD51 ENST00000382643 human ensembl 70_37 +1 known missense c.448 p.D150N 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 19 58 75.32 112 0 0.00 RAD51AP1 10635 genome.wustl.edu 37 12 4657294 4657294 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 4657294 4657294 T C SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.407 p.M136T 0.000 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 24 10 28.57 27 0 0.00 RAD51AP1 10635 genome.wustl.edu 37 12 4657315 4657315 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 4657315 4657315 C G SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.428 p.S143C 0.998 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 7 6 46.15 30 0 0.00 RAD51AP1 10635 genome.wustl.edu 37 12 4668038 4668038 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 12 4668038 4668038 G A SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.938 p.S313N 0.884 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 97 23 19.17 98 0 0.00 RAD51AP2 729475 genome.wustl.edu 37 2 17696788 17696788 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 17696788 17696788 C G SNP RAD51AP2 ENST00000399080 human ensembl 70_37 -1 known missense c.2895 p.K965N 0.999 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 23 15 39.47 33 0 0.00 RAD51AP2 729475 genome.wustl.edu 37 2 17698314 17698314 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 17698314 17698314 C T SNP RAD51AP2 ENST00000399080 human ensembl 70_37 -1 known missense c.1369 p.E457K 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 25 14 35.90 20 0 0.00 RAD51B 5890 genome.wustl.edu 37 14 68290309 68290309 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 68290309 68290309 G T SNP RAD51B ENST00000487270 human ensembl 70_37 +1 known missense c.49 p.D17Y 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 34 9 20.93 39 0 0.00 RAD51B 5890 genome.wustl.edu 37 14 68290317 68290317 + Silent SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 14 68290317 68290317 G A SNP RAD51B ENST00000487270 human ensembl 70_37 +1 known silent c.57 p.L19 0.852 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 31 10 24.39 39 0 0.00 RAD51C 5889 genome.wustl.edu 37 17 56772321 56772321 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 56772321 56772321 G A SNP RAD51C ENST00000337432 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 20 11 35.48 32 0 0.00 RAD51C 5889 genome.wustl.edu 37 17 56809919 56809919 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56809919 56809919 G A SNP RAD51C ENST00000583539 human ensembl 70_37 +1 putative silent c.1040 p.*347 0.183 NULL pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 45 10 18.18 45 0 0.00 RAD51D 5892 genome.wustl.edu 37 17 33433235 33433235 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33433235 33433235 G A SNP RAD51D ENST00000588372 human ensembl 70_37 -1 known missense c.253 p.H85Y 0.009 NULL NULL - no_errors RAD51D HGNC ENSG00000185379 31 17 35.42 45 0 0.00 RAD51D 5892 genome.wustl.edu 37 17 33446700 33446700 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33446700 33446700 C G SNP RAD51D ENST00000590380 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RAD51D HGNC ENSG00000185379 24 11 31.43 39 0 0.00 RAD51D 5892 genome.wustl.edu 37 17 33448464 33448464 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33448464 33448464 C G SNP RAD51D ENST00000415064 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAD51D HGNC ENSG00000185379 16 14 46.67 18 0 0.00 RAD52 5893 genome.wustl.edu 37 12 1022548 1022548 + RNA SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 1022548 1022548 G C SNP RAD52 ENST00000535376 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAD52 HGNC ENSG00000002016 41 12 22.22 41 0 0.00 RAD54B 25788 genome.wustl.edu 37 8 95390835 95390835 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 95390835 95390835 G C SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known missense c.2275 p.Q759E 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 42 7 14.29 43 0 0.00 RAD54B 25788 genome.wustl.edu 37 8 95390835 95390835 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95390835 95390835 G A SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known nonsense c.2275 p.Q759* 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 34 20 37.04 32 0 0.00 RAD54B 25788 genome.wustl.edu 37 8 95470638 95470638 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 95470638 95470638 G A SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known silent c.162 p.L54 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 72 31 30.10 62 0 0.00 RAD54B 25788 genome.wustl.edu 37 8 95479678 95479678 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 95479678 95479678 C G SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known silent c.90 p.L30 0.011 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 86 18 17.31 23 0 0.00 RAD54L 8438 genome.wustl.edu 37 1 46714226 46714226 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 46714226 46714226 G A SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.46 p.E16K 0.088 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 28 8 22.22 37 0 0.00 RAD54L 8438 genome.wustl.edu 37 1 46715746 46715746 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 46715746 46715746 G C SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.165 p.L55F 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 40 21 34.43 67 0 0.00 RAD54L 8438 genome.wustl.edu 37 1 46726987 46726987 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46726987 46726987 C G SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.821 p.S274C 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 58 30 34.09 77 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51661692 51661692 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 51661692 51661692 A G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.263 p.H88R 0.949 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 24 3 11.11 23 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51667945 51667945 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51667945 51667945 G C SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1036 p.E346Q 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 48 28 36.84 47 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51669640 51669640 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 51669640 51669640 G T SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1174 p.D392Y 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 24 6 20.00 22 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51671288 51671288 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 51671288 51671288 C G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1451 p.S484C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 68 9 11.69 51 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51671320 51671320 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 51671320 51671320 C G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1483 p.L495V 0.999 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 55 16 22.54 42 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51696554 51696554 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 51696554 51696554 G C SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.3522 p.E1174D 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 12 11 47.83 34 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51697389 51697389 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 51697389 51697389 G A SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.4357 p.D1453N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 29 8 21.62 25 0 0.00 RAD54L2 23132 genome.wustl.edu 37 3 51697389 51697389 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 51697389 51697389 G A SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.4357 p.D1453N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 64 10 13.51 95 0 0.00 RAD9B 144715 genome.wustl.edu 37 12 110957694 110957694 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 110957694 110957694 C T SNP RAD9B ENST00000392672 human ensembl 70_37 +1 known missense c.863 p.S288L 0.101 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC ENSG00000151164 30 14 31.82 44 0 0.00 RAD9B 144715 genome.wustl.edu 37 12 110959986 110959986 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 110959986 110959986 G A SNP RAD9B ENST00000392672 human ensembl 70_37 +1 known missense c.895 p.D299N 0.956 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC ENSG00000151164 20 9 31.03 25 0 0.00 RADIL 55698 genome.wustl.edu 37 7 4874663 4874663 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 4874663 4874663 C T SNP RADIL ENST00000399583 human ensembl 70_37 -1 known missense c.991 p.E331K 0.753 superfamily_SMAD_FHA_domain pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 44 27 38.03 51 0 0.00 RADIL 55698 genome.wustl.edu 37 7 4917599 4917599 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 4917599 4917599 G A SNP RADIL ENST00000399583 human ensembl 70_37 -1 known nonsense c.172 p.Q58* 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 21 10 32.26 48 0 0.00 RAE1 8480 genome.wustl.edu 37 20 55931505 55931505 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 55931505 55931505 C T SNP RAE1 ENST00000371242 human ensembl 70_37 +1 known missense c.199 p.R67C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 83 13 13.54 59 0 0.00 RAET1E 135250 genome.wustl.edu 37 6 150205624 150205624 + Nonstop_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 150205624 150205624 C A SNP RAET1E ENST00000532335 human ensembl 70_37 -1 known nonstop c.639 p.*213Y 0.001 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 31 4 11.43 23 0 0.00 RAET1E 135250 genome.wustl.edu 37 6 150210680 150210680 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150210680 150210680 G C SNP RAET1E ENST00000392270 human ensembl 70_37 -1 known missense c.320 p.P107R 0.000 NULL superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 105 34 24.46 157 0 0.00 RAET1G 353091 genome.wustl.edu 37 6 150238164 150238164 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 150238164 150238164 C A SNP RAET1G ENST00000367360 human ensembl 70_37 -1 known missense c.889 p.V297L 0.006 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC ENSG00000203722 26 7 21.21 28 0 0.00 RAET1G 353091 genome.wustl.edu 37 6 150240369 150240369 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 150240369 150240369 G C SNP RAET1G ENST00000367360 human ensembl 70_37 -1 known missense c.441 p.I147M 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC ENSG00000203722 82 83 50.30 111 0 0.00 RAET1K 646024 genome.wustl.edu 37 6 150322552 150322552 + RNA SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 150322552 150322552 C G SNP RAET1K ENST00000533735 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAET1K HGNC ENSG00000218358 71 48 40.34 148 0 0.00 RAET1K 646024 genome.wustl.edu 37 6 150322616 150322616 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 150322616 150322616 C T SNP RAET1K ENST00000533735 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RAET1K HGNC ENSG00000218358 104 56 35.00 177 0 0.00 RAF1 5894 genome.wustl.edu 37 3 12660149 12660149 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 12660149 12660149 G C SNP RAF1 ENST00000442415 human ensembl 70_37 -1 known silent c.72 p.G24 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 37 22 36.67 29 0 0.00 RAF1 5894 genome.wustl.edu 37 3 12660149 12660149 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 12660149 12660149 G C SNP RAF1 ENST00000442415 human ensembl 70_37 -1 known silent c.72 p.G24 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 42 13 23.64 53 0 0.00 RAG1 5896 genome.wustl.edu 37 11 36595309 36595309 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 36595309 36595309 C T SNP RAG1 ENST00000299440 human ensembl 70_37 +1 known missense c.455 p.P152L 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 28 37 56.92 40 0 0.00 RAG1 5896 genome.wustl.edu 37 11 36596661 36596661 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 36596661 36596661 G C SNP RAG1 ENST00000299440 human ensembl 70_37 +1 known missense c.1807 p.D603H 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 20 23 53.49 40 0 0.00 RAG2 5897 genome.wustl.edu 37 11 36614675 36614675 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 36614675 36614675 C G SNP RAG2 ENST00000311485 human ensembl 70_37 -1 known missense c.1044 p.L348F 1.000 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 10 15 60.00 21 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17696863 17696863 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 17696863 17696863 C G SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.601 p.L201V 0.861 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 36 10 21.74 21 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17696863 17696863 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 17696863 17696863 C G SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.601 p.L201V 0.861 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 83 24 22.43 91 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17697094 17697096 + In_Frame_Del DEL CAG CAG - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 17697094 17697096 CAG - DEL RAI1 ENST00000353383 human ensembl 70_37 +1 known in_frame_del c.832_834 p.Q281in_frame_del 0.831:0.157:0.050 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 28 5 15.15 42 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17698750 17698750 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 17698750 17698750 G A SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2488 p.E830K 0.972 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 14 6 30.00 16 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17698867 17698867 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 17698867 17698867 G C SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2605 p.E869Q 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 38 24 38.71 40 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17699089 17699089 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 17699089 17699089 G C SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.2827 p.E943Q 0.984 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 53 35 39.77 67 0 0.00 RAI1 10743 genome.wustl.edu 37 17 17713347 17713347 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 17713347 17713347 C T SNP RAI1 ENST00000582514 human ensembl 70_37 +1 putative rna NULL NULL 0.916 - - - no_errors RAI1 HGNC ENSG00000108557 24 23 48.94 18 0 0.00 RAI14 26064 genome.wustl.edu 37 5 34823462 34823462 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 34823462 34823462 G C SNP RAI14 ENST00000515799 human ensembl 70_37 +1 known missense c.1524 p.Q508H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 14 2 12.50 18 0 0.00 RAI14 26064 genome.wustl.edu 37 5 34823849 34823849 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 34823849 34823849 G A SNP RAI14 ENST00000515799 human ensembl 70_37 +1 known missense c.1911 p.M637I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 28 4 12.50 24 0 0.00 RAI2 10742 genome.wustl.edu 37 X 17818545 17818545 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 17818545 17818545 C A SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known missense c.1586 p.R529I 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 32 18 36.00 75 0 0.00 RAI2 10742 genome.wustl.edu 37 X 17818979 17818979 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 17818979 17818979 A C SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known missense c.1152 p.I384M 0.012 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 19 14 42.42 45 0 0.00 RAI2 10742 genome.wustl.edu 37 X 17819933 17819933 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 17819933 17819933 C T SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known silent c.198 p.Q66 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 67 16 19.28 84 0 0.00 RALA 5898 genome.wustl.edu 37 7 39736381 39736381 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 39736381 39736381 G A SNP RALA ENST00000005257 human ensembl 70_37 +1 known missense c.421 p.E141K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALA HGNC ENSG00000006451 22 14 38.89 33 0 0.00 RALBP1 10928 genome.wustl.edu 37 18 9522346 9522346 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 9522346 9522346 G A SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known missense c.892 p.E298K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 87 11 11.22 116 0 0.00 RALBP1 10928 genome.wustl.edu 37 18 9533746 9533746 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 18 9533746 9533746 G T SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known missense c.1623 p.E541D 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 26 4 13.33 14 0 0.00 RALBP1 10928 genome.wustl.edu 37 18 9535792 9535792 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9535792 9535792 G A SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known missense c.1825 p.E609K 0.835 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 12 7 36.84 23 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36008548 36008549 + RNA INS - - A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 14 36008548 36008549 - A INS RALGAPA1 ENST00000556106 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors RALGAPA1 HGNC ENSG00000174373 22 3 12.00 31 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36121025 36121025 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 36121025 36121025 C T SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.4285 p.E1429K 1.000 superfamily_ARM-type_fold pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 48 7 12.73 57 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36125063 36125063 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 36125063 36125063 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.4069 p.H1357Y 1.000 superfamily_ARM-type_fold pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 218 56 20.44 304 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36147177 36147177 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 36147177 36147177 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.3226 p.L1076F 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 42 13 23.64 73 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36157725 36157725 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 36157725 36157725 C G SNP RALGAPA1 ENST00000382366 human ensembl 70_37 -1 novel missense c.2456 p.R819T 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 79 37 31.90 79 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36159158 36159158 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 36159158 36159158 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.2459 p.S820L 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 8 7 46.67 26 0 0.00 RALGAPA1 253959 genome.wustl.edu 37 14 36211632 36211632 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 36211632 36211632 C G SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.1391 p.C464S 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 19 9 32.14 19 0 0.00 RALGAPA2 57186 genome.wustl.edu 37 20 20491928 20491928 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 20491928 20491928 C G SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.4898 p.R1633T 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 20 8 28.57 35 0 0.00 RALGAPA2 57186 genome.wustl.edu 37 20 20553692 20553692 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 20553692 20553692 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.2728 p.D910N 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 16 14 46.67 28 0 0.00 RALGAPA2 57186 genome.wustl.edu 37 20 20596757 20596757 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 20596757 20596757 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.1618 p.D540N 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 55 7 11.29 44 0 0.00 RALGAPA2 57186 genome.wustl.edu 37 20 20621380 20621380 + Missense_Mutation SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 20 20621380 20621380 T A SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.515 p.E172V 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 47 20 29.85 40 0 0.00 RALGAPA2 57186 genome.wustl.edu 37 20 20621513 20621513 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 20621513 20621513 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.382 p.E128K 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 10 10 50.00 12 0 0.00 RALGAPB 57148 genome.wustl.edu 37 20 37153553 37153553 + Nonsense_Mutation SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 20 37153553 37153553 C A SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known nonsense c.1752 p.Y584* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 49 15 23.44 45 0 0.00 RALGAPB 57148 genome.wustl.edu 37 20 37154152 37154152 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 20 37154152 37154152 C G SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known silent c.1893 p.V631 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 69 25 26.32 51 0 0.00 RALGAPB 57148 genome.wustl.edu 37 20 37182681 37182681 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 37182681 37182681 C G SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3334 p.L1112V 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 53 7 11.67 46 0 0.00 RALGAPB 57148 genome.wustl.edu 37 20 37191319 37191319 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 37191319 37191319 G A SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3676 p.D1226N 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 219 133 37.78 200 0 0.00 RALGAPB 57148 genome.wustl.edu 37 20 37195831 37195831 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 37195831 37195831 G C SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3910 p.E1304Q 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 63 35 35.71 87 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135973188 135973188 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 135973188 135973188 C T SNP RALGDS ENST00000469972 human ensembl 70_37 -1 known rna NULL NULL 0.879 - - - no_errors RALGDS HGNC ENSG00000160271 33 9 21.43 28 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135973839 135973839 + RNA SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 135973839 135973839 C T SNP RALGDS ENST00000469972 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors RALGDS HGNC ENSG00000160271 37 8 17.39 63 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135975587 135975587 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135975587 135975587 C T SNP RALGDS ENST00000469972 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RALGDS HGNC ENSG00000160271 36 8 18.18 57 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135979179 135979179 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 135979179 135979179 G A SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known silent c.1926 p.L642 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 20 10 33.33 55 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135984132 135984132 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 135984132 135984132 C T SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known missense c.919 p.D307N 0.997 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 49 8 14.04 40 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135985048 135985048 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 135985048 135985048 G A SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known silent c.762 p.S254 0.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 23 16 41.03 83 0 0.00 RALGDS 5900 genome.wustl.edu 37 9 135985795 135985795 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135985795 135985795 C G SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 34 10 22.73 33 0 0.00 RALGPS1 9649 genome.wustl.edu 37 9 129728136 129728136 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 129728136 129728136 C T SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.71 p.S24L 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 14 6 30.00 31 0 0.00 RALGPS1 9649 genome.wustl.edu 37 9 129739991 129739991 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 129739991 129739991 G T SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.183 p.M61I 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 22 3 12.00 33 0 0.00 RALGPS1 9649 genome.wustl.edu 37 9 129972982 129972982 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 9 129972982 129972982 G A SNP RALGPS1 ENST00000424082 human ensembl 70_37 +1 known missense c.1046 p.R349H 1.000 NULL pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 33 25 43.10 85 0 0.00 RALGPS1 9649 genome.wustl.edu 37 9 129977105 129977105 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 129977105 129977105 A C SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.1628 p.K543T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 26 7 21.21 57 0 0.00 RALGPS2 55103 genome.wustl.edu 37 1 178753625 178753625 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178753625 178753625 G A SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.130 p.D44N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 18 19 51.35 82 0 0.00 RALGPS2 55103 genome.wustl.edu 37 1 178777210 178777210 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 178777210 178777210 G C SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.244 p.E82Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 42 12 22.22 29 0 0.00 RALGPS2 55103 genome.wustl.edu 37 1 178846666 178846666 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 178846666 178846666 C T SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.641 p.S214L 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 64 11 14.67 81 0 0.00 RALGPS2 55103 genome.wustl.edu 37 1 178855222 178855222 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 178855222 178855222 G A SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.1159 p.E387K 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 24 14 36.84 28 0 0.00 RALGPS2 55103 genome.wustl.edu 37 1 178875917 178875917 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178875917 178875917 C T SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.1637 p.S546L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 22 18 45.00 48 0 0.00 RALY 22913 genome.wustl.edu 37 20 32659947 32659947 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 32659947 32659947 G C SNP RALY ENST00000246194 human ensembl 70_37 +1 known missense c.67 p.V23L 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 42 8 16.00 38 0 0.00 RALY 22913 genome.wustl.edu 37 20 32661383 32661383 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 32661383 32661383 G A SNP RALY ENST00000246194 human ensembl 70_37 +1 known missense c.271 p.G91R 1.000 pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 65 9 12.16 42 0 0.00 RALY 22913 genome.wustl.edu 37 20 32664864 32664865 + In_Frame_Ins INS - - CAG TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 32664864 32664865 - CAG INS RALY ENST00000246194 human ensembl 70_37 +1 known in_frame_ins c.689_690 p.231in_frame_insS 0.001:0.001 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 11 5 31.25 8 0 0.00 RALYL 138046 genome.wustl.edu 37 8 85441636 85441636 + Missense_Mutation SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 85441636 85441636 A G SNP RALYL ENST00000521268 human ensembl 70_37 +1 known missense c.80 p.N27S 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 44 30 40.54 53 0 0.00 RALYL 138046 genome.wustl.edu 37 8 85717004 85717004 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 85717004 85717004 G C SNP RALYL ENST00000521268 human ensembl 70_37 +1 known splice_site c.333-1 e3-1 1.000 - - - no_errors RALYL HGNC ENSG00000184672 163 30 15.46 180 0 0.00 RALYL 138046 genome.wustl.edu 37 8 85762241 85762241 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 85762241 85762241 A G SNP RALYL ENST00000521268 human ensembl 70_37 +1 known missense c.392 p.Y131C 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 20 30 60.00 29 0 0.00 RAMP2 10266 genome.wustl.edu 37 17 40914675 40914675 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40914675 40914675 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.224 p.S75F 1.000 NULL NULL - no_errors RAMP2 HGNC ENSG00000131477 41 21 33.87 68 0 0.00 RAMP2 10266 genome.wustl.edu 37 17 40914699 40914699 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40914699 40914699 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.248 p.S83L 0.996 NULL NULL - no_errors RAMP2 HGNC ENSG00000131477 33 17 34.00 62 0 0.00 RAMP2 10266 genome.wustl.edu 37 17 40914699 40914699 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 40914699 40914699 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.248 p.S83L 0.996 NULL NULL - no_errors RAMP2 HGNC ENSG00000131477 36 4 10.00 57 0 0.00 RAN 5901 genome.wustl.edu 37 12 131360460 131360460 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 131360460 131360460 G A SNP RAN ENST00000392369 human ensembl 70_37 +1 known missense c.640 p.D214N 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 110 42 27.63 136 0 0.00 RANBP10 57610 genome.wustl.edu 37 16 67761744 67761744 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 67761744 67761744 C A SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.1530 p.R510S 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 29 11 27.50 40 0 0.00 RANBP10 57610 genome.wustl.edu 37 16 67763658 67763658 + Missense_Mutation SNP A A T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 67763658 67763658 A T SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.1072 p.S358T 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 34 27 44.26 22 0 0.00 RANBP10 57610 genome.wustl.edu 37 16 67805964 67805964 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 67805964 67805964 G C SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.373 p.Q125E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 13 14 51.85 22 0 0.00 RANBP17 64901 genome.wustl.edu 37 5 170722906 170722906 + Silent SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 170722906 170722906 A C SNP RANBP17 ENST00000523189 human ensembl 70_37 +1 known silent c.3058 p.R1020 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 11 7 38.89 30 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109345596 109345596 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109345596 109345596 G T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.81 p.M27I 1.000 pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 72 33 31.43 160 1 0.62 RANBP2 5903 genome.wustl.edu 37 2 109347309 109347309 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 109347309 109347309 G A SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.220 p.E74K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 290 142 32.79 467 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109347309 109347309 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 109347309 109347309 G A SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.220 p.E74K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 42 15 26.32 43 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109380099 109380099 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 109380099 109380099 C G SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known nonsense c.3104 p.S1035* 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 35 4 10.26 40 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109381095 109381095 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 109381095 109381095 C T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.4100 p.S1367L 0.994 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 15 8 34.78 25 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109381352 109381352 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109381352 109381352 C T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.4357 p.H1453Y 0.137 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 16 9 36.00 24 0 0.00 RANBP2 5903 genome.wustl.edu 37 2 109383853 109383853 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 109383853 109383853 G C SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.6858 p.Q2286H 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 64 58 47.15 130 0 0.00 RANBP3 8498 genome.wustl.edu 37 19 5925689 5925689 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5925689 5925689 G T SNP RANBP3 ENST00000340578 human ensembl 70_37 -1 known missense c.873 p.D291E 0.656 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 76 10 11.63 108 0 0.00 RANBP3 8498 genome.wustl.edu 37 19 5928059 5928059 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 5928059 5928059 C G SNP RANBP3 ENST00000340578 human ensembl 70_37 -1 known missense c.733 p.E245Q 0.003 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 62 16 20.51 94 0 0.00 RANBP3L 202151 genome.wustl.edu 37 5 36265092 36265092 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 36265092 36265092 G C SNP RANBP3L ENST00000296604 human ensembl 70_37 -1 known missense c.449 p.S150C 0.203 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 150 40 20.94 107 0 0.00 RANBP3L 202151 genome.wustl.edu 37 5 36271364 36271364 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 36271364 36271364 T G SNP RANBP3L ENST00000296604 human ensembl 70_37 -1 known missense c.141 p.Q47H 0.591 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 21 12 36.36 47 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6012370 6012370 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6012370 6012370 C T SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.3238 p.E1080K 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 36 27 42.86 39 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6012865 6012865 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 6012865 6012865 G A SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2743 p.R915W 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 18 4 18.18 28 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6012865 6012865 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6012865 6012865 G A SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2743 p.R915W 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 11 11 50.00 39 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6013147 6013147 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 6013147 6013147 C G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2461 p.V821L 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 55 50 47.62 84 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6013473 6013473 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6013473 6013473 A G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2135 p.V712A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 25 6 19.35 52 0 0.00 RANBP6 26953 genome.wustl.edu 37 9 6013755 6013755 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 6013755 6013755 C G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.1853 p.R618T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 169 62 26.84 216 0 0.00 RANBP9 10048 genome.wustl.edu 37 6 13644799 13644799 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 13644799 13644799 C G SNP RANBP9 ENST00000011619 human ensembl 70_37 -1 known missense c.1090 p.E364Q 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 39 6 13.33 29 0 0.00 RAP1A 5906 genome.wustl.edu 37 1 112247085 112247085 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 112247085 112247085 A G SNP RAP1A ENST00000356415 human ensembl 70_37 +1 known missense c.445 p.K149E 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1A HGNC ENSG00000116473 12 5 29.41 38 0 0.00 RAP1B 5908 genome.wustl.edu 37 12 69044238 69044238 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 69044238 69044238 C G SNP RAP1B ENST00000250559 human ensembl 70_37 +1 known missense c.116 p.S39C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1B HGNC ENSG00000127314 57 25 30.12 74 0 0.00 RAP1GAP 5909 genome.wustl.edu 37 1 21934836 21934836 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 21934836 21934836 G A SNP RAP1GAP ENST00000290101 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.999 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC ENSG00000076864 39 10 20.41 27 0 0.00 RAP1GAP 5909 genome.wustl.edu 37 1 21934836 21934836 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 21934836 21934836 G A SNP RAP1GAP ENST00000290101 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.999 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC ENSG00000076864 48 18 26.87 46 0 0.00 RAP1GAP 5909 genome.wustl.edu 37 1 21991720 21991720 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 21991720 21991720 G A SNP RAP1GAP ENST00000464457 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAP1GAP HGNC ENSG00000076864 40 10 20.00 71 0 0.00 RAP1GAP2 23108 genome.wustl.edu 37 17 2808623 2808623 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 2808623 2808623 G A SNP RAP1GAP2 ENST00000542807 human ensembl 70_37 +1 known silent c.126 p.R42 0.999 NULL pfam_Rap_GAP,pfscan_Rap_GAP - no_errors RAP1GAP2 HGNC ENSG00000132359 49 38 43.68 74 0 0.00 RAP1GAP2 23108 genome.wustl.edu 37 17 2923826 2923826 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 2923826 2923826 G T SNP RAP1GAP2 ENST00000542807 human ensembl 70_37 +1 known missense c.1688 p.R563L 1.000 NULL pfam_Rap_GAP,pfscan_Rap_GAP - no_errors RAP1GAP2 HGNC ENSG00000132359 22 3 12.00 45 0 0.00 RAP1GDS1 5910 genome.wustl.edu 37 4 99264323 99264323 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 99264323 99264323 G A SNP RAP1GDS1 ENST00000339360 human ensembl 70_37 +1 known missense c.149 p.G50E 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 28 5 15.15 37 0 0.00 RAP2B 5912 genome.wustl.edu 37 3 152880788 152880788 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 152880788 152880788 C T SNP RAP2B ENST00000323534 human ensembl 70_37 +1 known silent c.306 p.R102 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2B HGNC ENSG00000181467 56 14 20.00 72 0 0.00 RAP2C 57826 genome.wustl.edu 37 X 131351087 131351087 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 131351087 131351087 G C SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known silent c.210 p.L70 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 59 14 18.92 49 0 0.00 RAP2C 57826 genome.wustl.edu 37 X 131351094 131351094 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 131351094 131351094 C G SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known missense c.203 p.R68T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 52 12 18.75 52 0 0.00 RAP2C 57826 genome.wustl.edu 37 X 131351137 131351137 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 131351137 131351137 C T SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known missense c.160 p.E54K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 37 9 19.57 43 0 0.00 RAP2C 57826 genome.wustl.edu 37 X 131351213 131351213 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 131351213 131351213 G A SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known silent c.84 p.F28 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 29 13 30.95 41 0 0.00 RAPGEF1 2889 genome.wustl.edu 37 9 134458080 134458080 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 134458080 134458080 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.2920 p.E974K 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 63 18 22.22 74 0 0.00 RAPGEF1 2889 genome.wustl.edu 37 9 134459713 134459713 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 134459713 134459713 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known silent c.2895 p.Q965 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 16 10 38.46 29 0 0.00 RAPGEF1 2889 genome.wustl.edu 37 9 134465279 134465279 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 134465279 134465279 T C SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.2357 p.E786G 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 37 29 43.94 77 0 0.00 RAPGEF1 2889 genome.wustl.edu 37 9 134501771 134501771 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 9 134501771 134501771 G A SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.1243 p.L415F 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 45 6 11.76 49 0 0.00 RAPGEF1 2889 genome.wustl.edu 37 9 134503309 134503309 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 134503309 134503309 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 97 25 20.49 45 0 0.00 RAPGEF2 9693 genome.wustl.edu 37 4 160253725 160253725 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 160253725 160253725 G C SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.1528 p.E510Q 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 64 17 20.99 77 0 0.00 RAPGEF2 9693 genome.wustl.edu 37 4 160262865 160262865 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 160262865 160262865 G A SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2201 p.R734H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 21 7 25.00 28 0 0.00 RAPGEF2 9693 genome.wustl.edu 37 4 160266410 160266410 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 160266410 160266410 A G SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2948 p.N983S 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 14 41 74.55 41 0 0.00 RAPGEF2 9693 genome.wustl.edu 37 4 160266410 160266410 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 160266410 160266410 A G SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2948 p.N983S 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 27 65 69.89 161 0 0.00 RAPGEF2 9693 genome.wustl.edu 37 4 160275088 160275088 + Missense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 160275088 160275088 C A SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.4058 p.S1353Y 0.616 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 34 14 29.17 34 0 0.00 RAPGEF3 10411 genome.wustl.edu 37 12 48131380 48131380 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 48131380 48131380 G C SNP RAPGEF3 ENST00000389212 human ensembl 70_37 -1 known silent c.2742 p.L914 0.135 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 59 58 49.15 69 0 0.00 RAPGEF3 10411 genome.wustl.edu 37 12 48134546 48134546 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 48134546 48134546 G T SNP RAPGEF3 ENST00000389212 human ensembl 70_37 -1 known missense c.2110 p.L704M 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 35 4 10.00 18 0 0.00 RAPGEF4 11069 genome.wustl.edu 37 2 173679324 173679324 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 173679324 173679324 A G SNP RAPGEF4 ENST00000464976 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 40 25 38.46 57 0 0.00 RAPGEF4 11069 genome.wustl.edu 37 2 173832141 173832141 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 173832141 173832141 G A SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.973 p.D325N 1.000 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 34 8 19.05 63 0 0.00 RAPGEF4 11069 genome.wustl.edu 37 2 173832152 173832152 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 173832152 173832152 G C SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.984 p.M328I 1.000 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 54 18 25.00 52 0 0.00 RAPGEF4 11069 genome.wustl.edu 37 2 173881101 173881101 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 173881101 173881101 G A SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.1834 p.D612N 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 18 11 37.93 36 0 0.00 RAPGEF4 11069 genome.wustl.edu 37 2 173882163 173882163 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 173882163 173882163 C G SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.1939 p.L647V 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 17 20 54.05 49 0 0.00 RAPGEF6 51735 genome.wustl.edu 37 5 130846163 130846163 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 130846163 130846163 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known missense c.649 p.D217N 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 17 32 65.31 48 0 0.00 RAPGEF6 51735 genome.wustl.edu 37 5 130883758 130883758 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 130883758 130883758 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known silent c.477 p.E159 0.460 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 107 17 13.71 59 0 0.00 RAPGEF6 51735 genome.wustl.edu 37 5 130883862 130883862 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 130883862 130883862 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 54 24 30.38 61 0 0.00 RAPGEFL1 51195 genome.wustl.edu 37 17 38340914 38340914 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 38340914 38340914 G A SNP RAPGEFL1 ENST00000264644 human ensembl 70_37 +1 known missense c.199 p.E67K 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC ENSG00000108352 19 14 42.42 27 0 0.00 RAPH1 65059 genome.wustl.edu 37 2 204304738 204304738 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 204304738 204304738 C A SNP RAPH1 ENST00000374493 human ensembl 70_37 -1 known missense c.3331 p.D1111Y 0.995 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 34 17 33.33 42 0 0.00 RAPH1 65059 genome.wustl.edu 37 2 204360053 204360053 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 204360053 204360053 T G SNP RAPH1 ENST00000374493 human ensembl 70_37 -1 known missense c.24 p.E8D 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 31 14 31.11 71 0 0.00 RAPSN 5913 genome.wustl.edu 37 11 47460263 47460264 + Frame_Shift_Ins INS - - C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 47460263 47460264 - C INS RAPSN ENST00000529341 human ensembl 70_37 -1 novel frame_shift_ins c.1009_1008 p.W336fs 0.013:0.005 NULL pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 44 11 20.00 64 0 0.00 RARB 5915 genome.wustl.edu 37 3 25542705 25542705 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 25542705 25542705 G C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.360 p.M120I 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 30 7 18.92 28 0 0.00 RARB 5915 genome.wustl.edu 37 3 25542806 25542806 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 25542806 25542806 C T SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.461 p.S154F 1.000 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 9 7 43.75 46 0 0.00 RARB 5915 genome.wustl.edu 37 3 25636077 25636077 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 25636077 25636077 A C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.1079 p.K360T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 14 12 46.15 38 0 0.00 RARB 5915 genome.wustl.edu 37 3 25636104 25636104 + Frame_Shift_Del DEL G G - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 25636104 25636104 G - DEL RARB ENST00000404969 human ensembl 70_37 +1 known frame_shift_del c.1106 p.S369fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 33 5 13.16 44 0 0.00 RARB 5915 genome.wustl.edu 37 3 25637933 25637933 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 25637933 25637933 G C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.1194 p.L398F 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 128 35 21.47 214 0 0.00 RARG 5916 genome.wustl.edu 37 12 53605639 53605639 + Missense_Mutation SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 12 53605639 53605639 T C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.1186 p.R396G 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 25 7 21.88 28 0 0.00 RARG 5916 genome.wustl.edu 37 12 53607434 53607434 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53607434 53607434 G C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.864 p.F288L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 33 33 49.25 62 0 0.00 RARG 5916 genome.wustl.edu 37 12 53607872 53607872 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 53607872 53607872 G C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.784 p.L262V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 11 15 57.69 19 0 0.00 RARG 5916 genome.wustl.edu 37 12 53608258 53608258 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 53608258 53608258 G A SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.608 p.S203L 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 55 37 40.22 84 0 0.00 RARG 5916 genome.wustl.edu 37 12 53608313 53608313 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53608313 53608313 G A SNP RARG ENST00000394426 human ensembl 70_37 -1 known nonsense c.553 p.Q185* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 49 20 28.57 67 0 0.00 RARRES1 5918 genome.wustl.edu 37 3 158428576 158428576 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 158428576 158428576 G A SNP RARRES1 ENST00000237696 human ensembl 70_37 -1 known silent c.486 p.Y162 0.966 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors RARRES1 HGNC ENSG00000118849 69 20 22.47 99 0 0.00 RARS2 57038 genome.wustl.edu 37 6 88265133 88265133 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 88265133 88265133 C T SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.388 p.E130K 1.000 pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 27 9 25.00 42 0 0.00 RARS2 57038 genome.wustl.edu 37 6 88265183 88265183 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 88265183 88265183 C G SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.338 p.G113A 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 21 14 40.00 42 0 0.00 RARS2 57038 genome.wustl.edu 37 6 88265183 88265183 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 88265183 88265183 C T SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.338 p.G113E 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 29 7 19.44 46 0 0.00 RARS2 57038 genome.wustl.edu 37 6 88265199 88265199 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 88265199 88265199 C G SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.322 p.D108H 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 51 12 19.05 69 0 0.00 RARS2 57038 genome.wustl.edu 37 6 88273904 88273904 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 88273904 88273904 C A SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.157 p.D53Y 0.022 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 20 3 13.04 55 0 0.00 RASA1 5921 genome.wustl.edu 37 5 86564633 86564633 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 86564633 86564633 C A SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known nonsense c.365 p.S122* 0.126 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 21 43 67.19 90 0 0.00 RASA1 5921 genome.wustl.edu 37 5 86658380 86658380 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 86658380 86658380 G T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known missense c.1345 p.V449L 1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 17 5 22.73 34 0 0.00 RASA1 5921 genome.wustl.edu 37 5 86672329 86672329 + Nonsense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 86672329 86672329 C T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known nonsense c.2131 p.R711* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 57 10 14.93 92 0 0.00 RASA1 5921 genome.wustl.edu 37 5 86682684 86682684 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 86682684 86682684 C G SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known missense c.2889 p.N963K 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 15 12 44.44 109 0 0.00 RASA1 5921 genome.wustl.edu 37 5 86682699 86682699 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 86682699 86682699 C T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known silent c.2904 p.I968 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 60 10 14.29 61 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141289800 141289800 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141289800 141289800 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.910 p.D304N 1.000 smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 79 16 16.84 55 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141289803 141289803 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141289803 141289803 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.913 p.D305N 1.000 smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 77 17 18.09 55 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141290341 141290341 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141290341 141290341 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1114 p.D372N 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 65 13 16.67 33 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141291503 141291503 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141291503 141291503 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1222 p.E408K 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 80 17 17.53 48 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141291508 141291508 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 141291508 141291508 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1227 p.M409I 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 38 5 11.63 48 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141291535 141291535 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 141291535 141291535 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known silent c.1254 p.L418 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 58 14 19.44 50 0 0.00 RASA2 5922 genome.wustl.edu 37 3 141292835 141292835 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 141292835 141292835 C G SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known nonsense c.1409 p.S470* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 52 15 22.39 25 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114751116 114751116 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114751116 114751116 T C SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.2399 p.D800G 1.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 40 18 31.03 83 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114758023 114758023 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 114758023 114758023 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.2183 p.R728H 1.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 66 23 25.84 50 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114762093 114762093 + Silent SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 13 114762093 114762093 G C SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.2055 p.V685 1.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 17 8 32.00 56 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114773065 114773065 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 114773065 114773065 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.1686 p.S562 0.453 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 52 12 18.75 74 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114780743 114780743 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 114780743 114780743 C G SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.1347 p.P449 0.128 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 108 52 32.50 194 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114806481 114806481 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 114806481 114806481 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.367 p.V123M 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 39 39 49.37 28 0 0.00 RASA3 22821 genome.wustl.edu 37 13 114806481 114806481 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 114806481 114806481 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.367 p.V123M 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 82 60 41.38 116 0 0.00 RASA4 10156 genome.wustl.edu 37 7 102246352 102246352 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 102246352 102246352 C A SNP RASA4 ENST00000262940 human ensembl 70_37 -1 known missense c.381 p.W127C 0.405 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC ENSG00000105808 171 20 10.47 162 1 0.61 RASA4B 100271927 genome.wustl.edu 37 7 102129561 102129561 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 102129561 102129561 G A SNP RASA4B ENST00000488284 human ensembl 70_37 -1 known missense c.553 p.R185W 0.453 NULL superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP - no_errors RASA4B HGNC ENSG00000170667 10 4 28.57 12 0 0.00 RASA4CP 401331 genome.wustl.edu 37 7 44070415 44070415 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44070415 44070415 G A SNP RASA4CP ENST00000425524 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RASA4CP HGNC ENSG00000228903 29 26 47.27 46 0 0.00 RASAL1 8437 genome.wustl.edu 37 12 113537723 113537723 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 113537723 113537723 C G SNP RASAL1 ENST00000549444 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RASAL1 HGNC ENSG00000111344 34 9 20.93 54 0 0.00 RASAL1 8437 genome.wustl.edu 37 12 113537812 113537812 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 113537812 113537812 G A SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known silent c.2343 p.L781 0.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 45 20 30.77 54 0 0.00 RASAL1 8437 genome.wustl.edu 37 12 113546012 113546012 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113546012 113546012 C T SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known missense c.1393 p.A465T 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 26 10 27.78 48 0 0.00 RASAL1 8437 genome.wustl.edu 37 12 113553053 113553053 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 113553053 113553053 G A SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known silent c.1020 p.L340 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 56 27 32.14 49 0 0.00 RASAL2 9462 genome.wustl.edu 37 1 178269208 178269208 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 178269208 178269208 G A SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known missense c.412 p.E138K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 45 12 21.05 36 0 0.00 RASAL2 9462 genome.wustl.edu 37 1 178408665 178408665 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 178408665 178408665 G A SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known silent c.783 p.V261 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 60 16 21.05 57 0 0.00 RASAL2 9462 genome.wustl.edu 37 1 178411962 178411962 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 178411962 178411962 G T SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known missense c.1080 p.W360C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 52 51 49.04 84 0 0.00 RASAL2-AS1 100302401 genome.wustl.edu 37 1 178061994 178061994 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178061994 178061994 A C SNP RASAL2-AS1 ENST00000419458 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RASAL2-AS1 HGNC ENSG00000224687 6 9 60.00 17 0 0.00 RASAL3 64926 genome.wustl.edu 37 19 15562617 15562617 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 15562617 15562617 C T SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.3025 p.D1009N 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 45 34 43.04 104 0 0.00 RASAL3 64926 genome.wustl.edu 37 19 15563952 15563952 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15563952 15563952 T C SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.2636 p.N879S 0.065 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 39 17 30.36 82 0 0.00 RASAL3 64926 genome.wustl.edu 37 19 15568600 15568600 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 15568600 15568600 C A SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known nonsense c.934 p.E312* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 31 6 16.22 21 0 0.00 RASAL3 64926 genome.wustl.edu 37 19 15575085 15575085 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 15575085 15575085 C T SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.85 p.G29S 0.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 12 9 42.86 16 0 0.00 RASD1 51655 genome.wustl.edu 37 17 17399274 17399274 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 17399274 17399274 G C SNP RASD1 ENST00000225688 human ensembl 70_37 -1 known silent c.222 p.L74 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 23 5 17.86 50 0 0.00 RASD1 51655 genome.wustl.edu 37 17 17399452 17399452 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 17399452 17399452 G C SNP RASD1 ENST00000225688 human ensembl 70_37 -1 known missense c.44 p.S15W 0.999 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 46 25 35.21 68 0 0.00 RASD1 51655 genome.wustl.edu 37 17 17399493 17399493 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 17399493 17399493 C G SNP RASD1 ENST00000225688 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 21 19 47.50 46 0 0.00 RASD2 23551 genome.wustl.edu 37 22 35947704 35947704 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 22 35947704 35947704 C T SNP RASD2 ENST00000216127 human ensembl 70_37 +1 known silent c.426 p.N142 0.809 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC ENSG00000100302 33 11 25.00 26 0 0.00 RASEF 158158 genome.wustl.edu 37 9 85615963 85615963 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 85615963 85615963 C G SNP RASEF ENST00000376447 human ensembl 70_37 -1 known missense c.1285 p.D429H 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 7 40 85.11 64 0 0.00 RASGEF1A 221002 genome.wustl.edu 37 10 43692548 43692548 + Splice_Site SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 10 43692548 43692548 C T SNP RASGEF1A ENST00000395809 human ensembl 70_37 -1 known splice_site c.1225-1 e10-1 1.000 - - - no_errors RASGEF1A HGNC ENSG00000198915 77 52 40.31 126 0 0.00 RASGEF1A 221002 genome.wustl.edu 37 10 43696186 43696186 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 43696186 43696186 C T SNP RASGEF1A ENST00000395809 human ensembl 70_37 -1 known missense c.610 p.A204T 0.001 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 79 35 30.70 109 0 0.00 RASGEF1B 153020 genome.wustl.edu 37 4 82377721 82377721 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 82377721 82377721 G A SNP RASGEF1B ENST00000436139 human ensembl 70_37 -1 putative silent c.522 p.I174 0.000 superfamily_Ras_GEF_dom pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 25 9 26.47 40 0 0.00 RASGEF1C 255426 genome.wustl.edu 37 5 179545796 179545796 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 179545796 179545796 G A SNP RASGEF1C ENST00000361132 human ensembl 70_37 -1 known silent c.978 p.F326 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 95 33 25.78 108 0 0.00 RASGRF1 5923 genome.wustl.edu 37 15 79294079 79294079 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 79294079 79294079 C T SNP RASGRF1 ENST00000419573 human ensembl 70_37 -1 known missense c.2548 p.D850N 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 101 25 19.84 100 0 0.00 RASGRF1 5923 genome.wustl.edu 37 15 79327552 79327552 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 79327552 79327552 G A SNP RASGRF1 ENST00000419573 human ensembl 70_37 -1 known silent c.879 p.S293 0.908 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 22 7 24.14 20 0 0.00 RASGRF2 5924 genome.wustl.edu 37 5 80256591 80256591 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 80256591 80256591 G A SNP RASGRF2 ENST00000265080 human ensembl 70_37 +1 known missense c.34 p.A12T 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 93 25 21.19 104 0 0.00 RASGRF2 5924 genome.wustl.edu 37 5 80256695 80256695 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 80256695 80256695 C T SNP RASGRF2 ENST00000265080 human ensembl 70_37 +1 known silent c.138 p.L46 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 40 28 41.18 98 0 0.00 RASGRF2 5924 genome.wustl.edu 37 5 80383974 80383974 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 5 80383974 80383974 G C SNP RASGRF2 ENST00000502677 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RASGRF2 HGNC ENSG00000113319 35 5 12.50 29 0 0.00 RASGRF2 5924 genome.wustl.edu 37 5 80497154 80497154 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 5 80497154 80497154 C T SNP RASGRF2 ENST00000265080 human ensembl 70_37 +1 known silent c.2799 p.F933 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 21 8 27.59 26 0 0.00 RASGRP1 10125 genome.wustl.edu 37 15 38786816 38786816 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 38786816 38786816 C T SNP RASGRP1 ENST00000310803 human ensembl 70_37 -1 known missense c.2026 p.E676K 0.986 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 24 10 29.41 23 0 0.00 RASGRP2 10235 genome.wustl.edu 37 11 64496388 64496388 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 64496388 64496388 C T SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.1718 p.R573H 0.883 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 37 30 44.78 76 0 0.00 RASGRP2 10235 genome.wustl.edu 37 11 64507254 64507254 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 64507254 64507254 G A SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.550 p.H184Y 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 15 6 28.57 17 0 0.00 RASGRP2 10235 genome.wustl.edu 37 11 64508425 64508425 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 64508425 64508425 G T SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.366 p.D122E 0.993 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 31 4 11.43 38 0 0.00 RASGRP2 10235 genome.wustl.edu 37 11 64508520 64508520 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64508520 64508520 C G SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.271 p.D91H 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 16 13 44.83 28 0 0.00 RASGRP2 10235 genome.wustl.edu 37 11 64509578 64509578 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 64509578 64509578 G A SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.80 p.S27F 0.986 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 33 27 45.00 52 0 0.00 RASGRP3 25780 genome.wustl.edu 37 2 33736799 33736799 + RNA SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 33736799 33736799 C T SNP RASGRP3 ENST00000497723 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RASGRP3 HGNC ENSG00000152689 35 8 18.60 42 0 0.00 RASGRP3 25780 genome.wustl.edu 37 2 33783806 33783806 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 33783806 33783806 C T SNP RASGRP3 ENST00000402538 human ensembl 70_37 +1 known silent c.1773 p.I591 1.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 24 9 27.27 18 0 0.00 RASGRP4 115727 genome.wustl.edu 37 19 38905556 38905556 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 38905556 38905556 C G SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.1162 p.E388Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 41 12 22.64 45 0 0.00 RASGRP4 115727 genome.wustl.edu 37 19 38905607 38905607 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 38905607 38905607 C T SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.1111 p.D371N 0.983 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 59 12 16.90 97 0 0.00 RASGRP4 115727 genome.wustl.edu 37 19 38910797 38910797 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38910797 38910797 C G SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.483 p.Q161H 0.979 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 35 28 44.44 57 0 0.00 RASGRP4 115727 genome.wustl.edu 37 19 38910838 38910838 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38910838 38910838 G C SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.442 p.R148G 0.934 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 23 13 36.11 42 0 0.00 RASGRP4 115727 genome.wustl.edu 37 19 38912755 38912755 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 38912755 38912755 C T SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.62 p.R21Q 0.072 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 127 41 24.40 148 0 0.00 RASIP1 54922 genome.wustl.edu 37 19 49225250 49225250 + Nonsense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 49225250 49225250 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known nonsense c.2553 p.W851* 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 63 14 18.18 97 0 0.00 RASIP1 54922 genome.wustl.edu 37 19 49230285 49230285 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 49230285 49230285 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.2002 p.E668K 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 26 30 53.57 29 0 0.00 RASIP1 54922 genome.wustl.edu 37 19 49230396 49230396 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 49230396 49230396 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.957 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 12 5 29.41 35 0 0.00 RASIP1 54922 genome.wustl.edu 37 19 49230681 49230681 + Missense_Mutation SNP T T A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49230681 49230681 T A SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.1840 p.I614F 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 37 39 50.65 64 0 0.00 RASL10A 10633 genome.wustl.edu 37 22 29709663 29709664 + RNA INS - - C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 29709663 29709664 - C INS RASL10A ENST00000474590 human ensembl 70_37 -1 known rna NULL NULL 0.008:0.008 - - - no_errors RASL10A HGNC ENSG00000100276 7 8 53.33 8 0 0.00 RASL12 51285 genome.wustl.edu 37 15 65350926 65350926 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 65350926 65350926 C T SNP RASL12 ENST00000220062 human ensembl 70_37 -1 known silent c.264 p.L88 0.985 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL12 HGNC ENSG00000103710 20 9 31.03 33 0 0.00 RASSF1 11186 genome.wustl.edu 37 3 50368087 50368087 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 50368087 50368087 G A SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known silent c.960 p.L320 0.995 pfscan_SARAH pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 29 20 40.82 49 0 0.00 RASSF1 11186 genome.wustl.edu 37 3 50369018 50369018 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 50369018 50369018 G C SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known silent c.744 p.L248 0.898 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 16 3 15.79 25 0 0.00 RASSF1 11186 genome.wustl.edu 37 3 50369054 50369054 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 50369054 50369054 C G SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known missense c.708 p.K236N 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 72 27 27.00 118 0 0.00 RASSF1 11186 genome.wustl.edu 37 3 50374657 50374657 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 3 50374657 50374657 C T SNP RASSF1 ENST00000327761 human ensembl 70_37 -1 known missense c.94 p.E32K 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF1 HGNC ENSG00000068028 18 4 18.18 34 0 0.00 RASSF2 9770 genome.wustl.edu 37 20 4764157 4764157 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 4764157 4764157 G C SNP RASSF2 ENST00000478553 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RASSF2 HGNC ENSG00000101265 13 9 40.91 16 0 0.00 RASSF2 9770 genome.wustl.edu 37 20 4764948 4764948 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 4764948 4764948 C G SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.952 p.E318Q 1.000 pfscan_SARAH pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC ENSG00000101265 46 12 20.69 77 0 0.00 RASSF2 9770 genome.wustl.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 4770300 4770300 C T SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.581 p.R194H 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC ENSG00000101265 31 6 16.22 54 0 0.00 RASSF2 9770 genome.wustl.edu 37 20 4776485 4776485 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4776485 4776485 G C SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.263 p.S88C 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC ENSG00000101265 103 19 15.57 62 0 0.00 RASSF3 283349 genome.wustl.edu 37 12 65082182 65082182 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 65082182 65082182 G A SNP RASSF3 ENST00000336061 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF3 HGNC ENSG00000153179 92 37 28.68 147 0 0.00 RASSF4 83937 genome.wustl.edu 37 10 45477983 45477983 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 45477983 45477983 G A SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC ENSG00000107551 54 35 39.33 61 0 0.00 RASSF4 83937 genome.wustl.edu 37 10 45479462 45479462 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 10 45479462 45479462 G A SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known missense c.301 p.V101I 0.352 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC ENSG00000107551 40 16 28.57 56 0 0.00 RASSF4 83937 genome.wustl.edu 37 10 45480397 45480397 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 45480397 45480397 C T SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known silent c.537 p.N179 0.586 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC ENSG00000107551 18 3 14.29 29 0 0.00 RASSF4 83937 genome.wustl.edu 37 10 45485136 45485136 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 45485136 45485136 G C SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known missense c.679 p.E227Q 0.995 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC ENSG00000107551 33 22 39.29 67 0 0.00 RASSF5 83593 genome.wustl.edu 37 1 206758446 206758446 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 206758446 206758446 C T SNP RASSF5 ENST00000481486 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors RASSF5 HGNC ENSG00000136653 59 18 23.38 80 0 0.00 RASSF5 83593 genome.wustl.edu 37 1 206762592 206762592 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 206762592 206762592 C T SNP RASSF5 ENST00000481486 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RASSF5 HGNC ENSG00000136653 24 16 40.00 54 0 0.00 RASSF7 8045 genome.wustl.edu 37 11 561798 561798 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 561798 561798 G C SNP RASSF7 ENST00000344375 human ensembl 70_37 +1 known silent c.30 p.L10 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 25 12 32.43 60 0 0.00 RASSF7 8045 genome.wustl.edu 37 11 562206 562206 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 562206 562206 G A SNP RASSF7 ENST00000414138 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL NULL - no_errors RASSF7 HGNC ENSG00000099849 26 22 45.83 43 0 0.00 RASSF7 8045 genome.wustl.edu 37 11 563402 563402 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 563402 563402 C G SNP RASSF7 ENST00000344375 human ensembl 70_37 +1 known missense c.958 p.L320V 0.004 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 28 10 26.32 33 0 0.00 RASSF8 11228 genome.wustl.edu 37 12 26217828 26217828 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 26217828 26217828 G T SNP RASSF8 ENST00000282884 human ensembl 70_37 +1 known missense c.501 p.K167N 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 4 3 42.86 21 0 0.00 RASSF9 9182 genome.wustl.edu 37 12 86198527 86198527 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 86198527 86198527 G C SNP RASSF9 ENST00000361228 human ensembl 70_37 -1 known missense c.1261 p.Q421E 1.000 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 43 23 34.85 74 0 0.00 RASSF9 9182 genome.wustl.edu 37 12 86199213 86199213 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 86199213 86199213 G T SNP RASSF9 ENST00000361228 human ensembl 70_37 -1 known missense c.575 p.S192Y 1.000 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 8 3 27.27 24 0 0.00 RAVER1 125950 genome.wustl.edu 37 19 10432283 10432283 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 10432283 10432283 G C SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known missense c.1236 p.I412M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 48 22 31.43 54 0 0.00 RAVER1 125950 genome.wustl.edu 37 19 10432289 10432289 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 10432289 10432289 G A SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known silent c.1230 p.P410 0.142 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 26 9 25.71 28 0 0.00 RAVER1 125950 genome.wustl.edu 37 19 10441138 10441138 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10441138 10441138 G T SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known missense c.335 p.T112K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 36 4 10.00 25 0 0.00 RAX 30062 genome.wustl.edu 37 18 56936292 56936292 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 18 56936292 56936292 G A SNP RAX ENST00000334889 human ensembl 70_37 -1 known missense c.985 p.R329C 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors RAX HGNC ENSG00000134438 3 3 50.00 17 0 0.00 RB1 5925 genome.wustl.edu 37 13 48923137 48923137 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 48923137 48923137 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.585 p.W195C 1.000 pfam_DUF3452_retinoblatoma-assoc pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 15 11 42.31 73 0 0.00 RB1 5925 genome.wustl.edu 37 13 48942685 48942685 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 13 48942685 48942685 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.1072 p.R358* 0.738 NULL pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 23 21 47.73 68 0 0.00 RB1 5925 genome.wustl.edu 37 13 48942733 48942733 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 48942733 48942733 C G SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.1120 p.P374A 1.000 pfam_RB_A pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 93 24 20.51 78 0 0.00 RB1 5925 genome.wustl.edu 37 13 48953743 48953743 + Missense_Mutation SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 13 48953743 48953743 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.1346 p.G449V 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 24 38 61.29 45 0 0.00 RB1 5925 genome.wustl.edu 37 13 48954327 48954328 + Frame_Shift_Del DEL AT AT - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 13 48954327 48954328 AT - DEL RB1 ENST00000267163 human ensembl 70_37 +1 known frame_shift_del c.1448_1449 p.M484fs 1.000:1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 32 11 25.58 66 0 0.00 RB1 5925 genome.wustl.edu 37 13 48955382 48955382 + Splice_Site SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 48955382 48955382 G C SNP RB1 ENST00000267163 human ensembl 70_37 +1 known splice_site c.1499-1 e17-1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 9 17 65.38 13 0 0.00 RB1 5925 genome.wustl.edu 37 13 48955492 48955492 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 13 48955492 48955492 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known silent c.1608 p.I536 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 8 20 71.43 11 0 0.00 RB1 5925 genome.wustl.edu 37 13 49030426 49030426 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 49030426 49030426 C A SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.1901 p.S634* 1.000 NULL pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 33 13 28.26 42 0 0.00 RB1 5925 genome.wustl.edu 37 13 49039158 49039158 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49039158 49039158 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.2236 p.E746* 1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 35 19 35.19 80 0 0.00 RB1 5925 genome.wustl.edu 37 13 49039374 49039374 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49039374 49039374 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.2359 p.R787* 1.000 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 22 8 26.67 50 0 0.00 RB1 5925 genome.wustl.edu 37 13 49047512 49047512 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49047512 49047512 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.2506 p.G836C 1.000 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 8 10 55.56 30 0 0.00 RB1 5925 genome.wustl.edu 37 13 49050678 49050678 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49050678 49050678 G A SNP RB1 ENST00000484879 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RB1 HGNC ENSG00000139687 5 25 83.33 44 0 0.00 RB1 5925 genome.wustl.edu 37 13 49050707 49050707 + RNA SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 13 49050707 49050707 G A SNP RB1 ENST00000484879 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors RB1 HGNC ENSG00000139687 6 36 85.71 59 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53569888 53569888 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 53569888 53569888 G C SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known nonsense c.2501 p.S834* 0.991 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 94 29 23.58 162 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53570327 53570327 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 53570327 53570327 C T SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.2062 p.E688K 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 9 3 25.00 24 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53570460 53570460 + Silent SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 53570460 53570460 C G SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known silent c.1929 p.V643 0.005 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 12 5 29.41 19 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53573785 53573785 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 53573785 53573785 A C SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.1415 p.L472W 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 12 7 36.84 56 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53586728 53586728 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 53586728 53586728 C G SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.679 p.E227Q 0.998 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 218 77 26.10 299 0 0.00 RB1CC1 9821 genome.wustl.edu 37 8 53626647 53626647 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 53626647 53626647 C T SNP RB1CC1 ENST00000518211 human ensembl 70_37 -1 known missense c.47 p.G16E 1.000 NULL NULL - no_errors RB1CC1 HGNC ENSG00000023287 25 15 37.50 27 0 0.00 RBAK 57786 genome.wustl.edu 37 7 5104371 5104371 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 5104371 5104371 C G SNP RBAK ENST00000353796 human ensembl 70_37 +1 known silent c.1284 p.P428 0.979 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 20 6 23.08 28 0 0.00 RBBP4 5928 genome.wustl.edu 37 1 33145259 33145259 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33145259 33145259 G C SNP RBBP4 ENST00000373493 human ensembl 70_37 +1 known missense c.1231 p.D411H 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 32 22 40.74 43 0 0.00 RBBP6 5930 genome.wustl.edu 37 16 24557495 24557495 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 24557495 24557495 G A SNP RBBP6 ENST00000319715 human ensembl 70_37 +1 known missense c.178 p.D60N 1.000 pfam_DWNN_domain pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 49 16 24.24 70 0 0.00 RBBP6 5930 genome.wustl.edu 37 16 24578503 24578503 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 24578503 24578503 G A SNP RBBP6 ENST00000319715 human ensembl 70_37 +1 known silent c.1629 p.Q543 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 43 40 48.19 80 0 0.00 RBBP7 5931 genome.wustl.edu 37 X 16870688 16870688 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 16870688 16870688 C T SNP RBBP7 ENST00000380087 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP7 HGNC ENSG00000102054 21 18 46.15 51 0 0.00 RBBP8 5932 genome.wustl.edu 37 18 20564878 20564878 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 20564878 20564878 C T SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.634 p.H212Y 0.986 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 89 28 23.93 104 0 0.00 RBBP8 5932 genome.wustl.edu 37 18 20573147 20573147 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 20573147 20573147 G C SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.1357 p.E453Q 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 29 27 48.21 23 0 0.00 RBBP8 5932 genome.wustl.edu 37 18 20573283 20573283 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 20573283 20573283 C A SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known nonsense c.1493 p.S498* 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 65 46 41.44 114 0 0.00 RBBP8 5932 genome.wustl.edu 37 18 20573291 20573291 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 20573291 20573291 C T SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known nonsense c.1501 p.Q501* 0.253 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 64 41 39.05 110 0 0.00 RBBP8 5932 genome.wustl.edu 37 18 20576348 20576348 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 18 20576348 20576348 G C SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.1951 p.E651Q 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 17 15 46.88 39 0 0.00 RBBP8NL 140893 genome.wustl.edu 37 20 60994665 60994665 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 60994665 60994665 C G SNP RBBP8NL ENST00000252998 human ensembl 70_37 -1 known missense c.39 p.E13D 0.137 pfam_CtIP_N pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 81 20 19.61 80 0 0.00 RBCK1 10616 genome.wustl.edu 37 20 389369 389369 + RNA SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 389369 389369 T C SNP RBCK1 ENST00000400245 human ensembl 70_37 +1 known rna NULL NULL 0.936 - - - no_errors RBCK1 HGNC ENSG00000125826 31 8 20.00 40 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 6367009 6367009 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 6367009 6367009 G T SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.17 p.R6I 0.967 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 14 3 17.65 16 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7629836 7629836 + Missense_Mutation SNP A A G TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 16 7629836 7629836 A G SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.457 p.T153A 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 20 7 25.93 25 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7645614 7645614 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 7645614 7645614 G A SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.661 p.G221S 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 64 36 36.00 74 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7657297 7657297 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 7657297 7657297 G C SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.762 p.L254F 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 34 18 34.62 75 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7743345 7743345 + Nonsense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 7743345 7743345 G T SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known nonsense c.1153 p.E385* 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 36 4 10.00 61 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7760713 7760713 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 7760713 7760713 A G SNP RBFOX1 ENST00000311745 human ensembl 70_37 +1 known missense c.1223 p.Y408C 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 40 16 28.57 69 0 0.00 RBFOX1 54715 genome.wustl.edu 37 16 7760730 7760730 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 7760730 7760730 C T SNP RBFOX1 ENST00000311745 human ensembl 70_37 +1 known missense c.1240 p.R414C 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 25 11 30.56 63 0 0.00 RBFOX2 23543 genome.wustl.edu 37 22 36155971 36155971 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 36155971 36155971 C T SNP RBFOX2 ENST00000438146 human ensembl 70_37 -1 known missense c.1073 p.R358Q 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC ENSG00000100320 38 6 13.64 45 0 0.00 RBL1 5933 genome.wustl.edu 37 20 35661206 35661206 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 35661206 35661206 C A SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.2244 p.K748N 0.996 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 97 42 30.22 105 1 0.94 RBL1 5933 genome.wustl.edu 37 20 35690616 35690616 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 35690616 35690616 C G SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.954 p.E318D 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 38 35 47.95 69 0 0.00 RBL1 5933 genome.wustl.edu 37 20 35717489 35717489 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 35717489 35717489 C T SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.193 p.V65I 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 40 18 31.03 58 0 0.00 RBL2 5934 genome.wustl.edu 37 16 53503923 53503923 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 53503923 53503923 G A SNP RBL2 ENST00000262133 human ensembl 70_37 +1 known missense c.2071 p.D691N 0.998 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 13 5 27.78 55 0 0.00 RBL2 5934 genome.wustl.edu 37 16 53504396 53504396 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 53504396 53504396 C T SNP RBL2 ENST00000262133 human ensembl 70_37 +1 known nonsense c.2347 p.Q783* 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 19 9 32.14 23 0 0.00 RBL2 5934 genome.wustl.edu 37 16 53524767 53524767 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 53524767 53524767 C T SNP RBL2 ENST00000379935 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RBL2 HGNC ENSG00000103479 54 16 22.86 44 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47034434 47034434 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47034434 47034434 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.519 p.F173 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 104 31 22.96 136 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47038524 47038524 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47038524 47038524 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.686 p.R229H 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 27 18 40.00 59 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47040952 47040952 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 47040952 47040952 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.1482 p.Q494 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 46 26 36.11 58 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47040962 47040962 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 47040962 47040962 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.1492 p.R498C 0.942 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 40 29 42.03 50 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47041150 47041150 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47041150 47041150 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.1578 p.S526 0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 54 15 21.74 62 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47041164 47041164 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47041164 47041164 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.1592 p.S531L 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 34 15 30.61 49 0 0.00 RBM10 8241 genome.wustl.edu 37 X 47045755 47045755 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 47045755 47045755 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.2636 p.R879H 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 72 13 15.29 62 0 0.00 RBM11 54033 genome.wustl.edu 37 21 15596832 15596832 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 15596832 15596832 C T SNP RBM11 ENST00000400577 human ensembl 70_37 +1 known nonsense c.406 p.Q136* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 6 6 50.00 44 0 0.00 RBM12 10137 genome.wustl.edu 37 20 34241792 34241792 + Missense_Mutation SNP T T G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 34241792 34241792 T G SNP RBM12 ENST00000359646 human ensembl 70_37 -1 known missense c.1453 p.K485Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 23 32 58.18 41 0 0.00 RBM12 10137 genome.wustl.edu 37 20 34242510 34242510 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 34242510 34242510 C T SNP RBM12 ENST00000359646 human ensembl 70_37 -1 known silent c.735 p.P245 0.836 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 42 23 35.38 47 0 0.00 RBM12B 389677 genome.wustl.edu 37 8 94745772 94745772 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 8 94745772 94745772 G A SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known missense c.2867 p.S956L 0.991 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 35 5 12.50 49 0 0.00 RBM12B 389677 genome.wustl.edu 37 8 94746938 94746938 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 94746938 94746938 G A SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known silent c.1701 p.F567 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 48 19 27.54 26 0 0.00 RBM12B 389677 genome.wustl.edu 37 8 94747681 94747681 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 94747681 94747681 C G SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known missense c.958 p.D320H 0.771 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 41 7 14.58 21 0 0.00 RBM12B 389677 genome.wustl.edu 37 8 94747717 94747717 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 94747717 94747717 C G SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known missense c.922 p.D308H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 54 11 16.92 22 0 0.00 RBM12B-AS1 55472 genome.wustl.edu 37 8 94752736 94752736 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 94752736 94752736 G T SNP RBM12B-AS1 ENST00000391680 human ensembl 70_37 +1 known nonsense c.256 p.E86* 0.000 NULL NULL - no_errors RBM12B-AS1 HGNC ENSG00000212998 29 20 40.82 41 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66384308 66384308 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66384308 66384308 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.117 p.F39 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 34 17 32.69 32 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66384308 66384308 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66384308 66384308 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.117 p.F39 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 31 16 34.04 56 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66384488 66384488 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66384488 66384488 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.297 p.F99 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 36 7 16.28 30 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66392285 66392285 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66392285 66392285 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known missense c.938 p.S313L 0.984 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 6 14 70.00 40 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66392783 66392783 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66392783 66392783 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known missense c.1436 p.S479L 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 19 28 59.57 101 0 0.00 RBM14 10432 genome.wustl.edu 37 11 66393087 66393087 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66393087 66393087 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.1740 p.R580 0.990 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 28 25 47.17 46 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110882124 110882124 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 110882124 110882124 C T SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known nonsense c.97 p.Q33* 0.772 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 45 12 21.05 67 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110882167 110882167 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 110882167 110882167 G A SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known missense c.140 p.G47E 1.000 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 46 65 58.56 118 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110882622 110882622 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110882622 110882622 G T SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known missense c.595 p.D199Y 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 88 25 21.93 160 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110882687 110882687 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110882687 110882687 G A SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known silent c.660 p.V220 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 104 26 20.00 137 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110888941 110888941 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 110888941 110888941 G A SNP RBM15 ENST00000487146 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM15 HGNC ENSG00000162775 41 17 29.31 42 0 0.00 RBM15 64783 genome.wustl.edu 37 1 110889277 110889277 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 110889277 110889277 T C SNP RBM15 ENST00000487146 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM15 HGNC ENSG00000162775 5 4 44.44 11 0 0.00 RBM17 84991 genome.wustl.edu 37 10 6139113 6139113 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 6139113 6139113 C T SNP RBM17 ENST00000379888 human ensembl 70_37 +1 known nonsense c.85 p.Q29* 1.000 pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 21 9 30.00 32 0 0.00 RBM17 84991 genome.wustl.edu 37 10 6154309 6154309 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 6154309 6154309 G A SNP RBM17 ENST00000379888 human ensembl 70_37 +1 known missense c.841 p.D281N 0.996 pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 45 7 13.46 78 0 0.00 RBM19 9904 genome.wustl.edu 37 12 114387954 114387954 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 114387954 114387954 T C SNP RBM19 ENST00000261741 human ensembl 70_37 -1 known missense c.1006 p.I336V 0.988 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 44 5 10.00 41 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112541279 112541279 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 112541279 112541279 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.912 p.L304 0.557 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 40 20 33.33 53 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112541507 112541507 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 112541507 112541507 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1140 p.R380 0.512 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 50 15 23.08 38 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112541564 112541564 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112541564 112541564 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1197 p.L399 0.949 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 70 52 42.62 84 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112541612 112541612 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112541612 112541612 C T SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1245 p.S415 1.000 smart_Znf_U1 smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 56 42 42.86 58 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112572653 112572653 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112572653 112572653 G C SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2498 p.R833T 0.932 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 10 6 37.50 10 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112581168 112581168 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112581168 112581168 G C SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2791 p.E931Q 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 27 20 42.55 54 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112581300 112581300 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112581300 112581300 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.2923 p.E975K 0.993 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 25 17 40.48 15 0 0.00 RBM20 282996 genome.wustl.edu 37 10 112590901 112590901 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 112590901 112590901 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.3534 p.M1178I 0.675 smart_Znf_U1,pfscan_Znf_C2H2_matrin smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 32 17 34.00 38 0 0.00 RBM23 55147 genome.wustl.edu 37 14 23371498 23371498 + Nonsense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 23371498 23371498 G A SNP RBM23 ENST00000359890 human ensembl 70_37 -1 known nonsense c.1024 p.R342* 0.945 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC ENSG00000100461 23 5 17.86 44 0 0.00 RBM24 221662 genome.wustl.edu 37 6 17292448 17292449 + RNA INS - - AAA TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 17292448 17292449 - AAA INS RBM24 ENST00000504055 human ensembl 70_37 +1 known rna NULL NULL 0.997:0.915 - - - no_errors RBM24 HGNC ENSG00000112183 7 6 46.15 8 0 0.00 RBM25 58517 genome.wustl.edu 37 14 73563725 73563725 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 73563725 73563725 C T SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 37 11 22.92 44 0 0.00 RBM25 58517 genome.wustl.edu 37 14 73566412 73566412 + Missense_Mutation SNP G G C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 14 73566412 73566412 G C SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.821 p.R274T 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 159 35 18.04 179 0 0.00 RBM25 58517 genome.wustl.edu 37 14 73572954 73572954 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 73572954 73572954 G T SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.1428 p.E476D 0.997 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 26 4 13.33 15 0 0.00 RBM25 58517 genome.wustl.edu 37 14 73578379 73578379 + Missense_Mutation SNP G G C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 73578379 73578379 G C SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.2161 p.D721H 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 67 29 30.21 53 0 0.00 RBM26 64062 genome.wustl.edu 37 13 79916921 79916921 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 79916921 79916921 C G SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known missense c.2305 p.D769H 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 80 28 25.93 109 0 0.00 RBM26 64062 genome.wustl.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 13 79918806 79918807 - T INS RBM26 ENST00000327303 human ensembl 70_37 -1 known frame_shift_ins c.2182_2181 p.Q727fs 1.000:1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 37 5 11.90 42 0 0.00 RBM26 64062 genome.wustl.edu 37 13 79927342 79927342 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 79927342 79927342 A G SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known silent c.2004 p.S668 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 28 17 37.78 28 0 0.00 RBM26 64062 genome.wustl.edu 37 13 79942903 79942903 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 79942903 79942903 C T SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known missense c.857 p.R286K 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 88 22 20.00 99 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145603092 145603092 + Splice_Site SNP T T A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 5 145603092 145603092 T A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known splice_site c.303+2 e3+2 0.989 - - - no_errors RBM27 HGNC ENSG00000091009 15 5 25.00 27 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145608539 145608539 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 145608539 145608539 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.334 p.D112N 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 25 8 24.24 43 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145613045 145613045 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145613045 145613045 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.883 p.Q295* 1.000 pfam_Znf_CCCH pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 34 9 20.93 32 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145643181 145643181 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 145643181 145643181 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.2318 p.G773E 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 9 7 43.75 39 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145648833 145648833 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145648833 145648833 G T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.2515 p.E839* 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 6 7 53.85 29 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145651103 145651103 + Nonsense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 145651103 145651103 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.2854 p.R952* 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 37 17 31.48 37 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145651202 145651202 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145651202 145651202 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.2953 p.E985K 0.998 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 33 9 21.43 27 0 0.00 RBM27 54439 genome.wustl.edu 37 5 145665548 145665548 + Silent SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 5 145665548 145665548 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known silent c.3138 p.D1046 0.855 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 34 7 17.07 35 0 0.00 RBM3 5935 genome.wustl.edu 37 X 48433775 48433775 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 48433775 48433775 C T SNP RBM3 ENST00000491240 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM3 HGNC ENSG00000102317 33 5 13.16 28 0 0.00 RBM3 5935 genome.wustl.edu 37 X 48434070 48434070 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 48434070 48434070 C T SNP RBM3 ENST00000485213 human ensembl 70_37 +1 known rna NULL NULL 0.206 - - - no_errors RBM3 HGNC ENSG00000102317 56 17 23.29 44 0 0.00 RBM3 5935 genome.wustl.edu 37 X 48434778 48434778 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e X 48434778 48434778 C T SNP RBM3 ENST00000430348 human ensembl 70_37 +1 known missense c.205 p.P69S 0.332 NULL NULL - no_errors RBM3 HGNC ENSG00000102317 90 15 14.29 96 0 0.00 RBM33 155435 genome.wustl.edu 37 7 155473423 155473423 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 155473423 155473423 C T SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.388 p.H130Y 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 36 6 14.29 35 0 0.00 RBM33 155435 genome.wustl.edu 37 7 155534643 155534643 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 155534643 155534643 C G SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.2180 p.S727C 0.672 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 7 13 65.00 32 0 0.00 RBM33 155435 genome.wustl.edu 37 7 155537712 155537712 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 155537712 155537712 C T SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.2395 p.R799C 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 31 7 18.42 19 0 0.00 RBM34 23029 genome.wustl.edu 37 1 235294965 235294965 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 235294965 235294965 C T SNP RBM34 ENST00000495224 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RBM34 HGNC ENSG00000188739 44 11 20.00 42 0 0.00 RBM34 23029 genome.wustl.edu 37 1 235295079 235295079 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 235295079 235295079 C G SNP RBM34 ENST00000408888 human ensembl 70_37 -1 known missense c.1242 p.K414N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 160 43 21.08 190 0 0.00 RBM34 23029 genome.wustl.edu 37 1 235295225 235295225 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 235295225 235295225 C G SNP RBM34 ENST00000408888 human ensembl 70_37 -1 known missense c.1096 p.E366Q 0.519 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 71 15 17.44 57 0 0.00 RBM34 23029 genome.wustl.edu 37 1 235299401 235299401 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235299401 235299401 G C SNP RBM34 ENST00000495224 human ensembl 70_37 -1 known rna NULL NULL 0.096 - - - no_errors RBM34 HGNC ENSG00000188739 38 12 24.00 35 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34297229 34297229 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 34297229 34297229 C G SNP RBM39 ENST00000476806 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBM39 HGNC ENSG00000131051 29 4 12.12 29 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34304707 34304707 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 34304707 34304707 C T SNP RBM39 ENST00000253363 human ensembl 70_37 -1 known missense c.846 p.M282I 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 45 17 27.42 46 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34324513 34324513 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34324513 34324513 G C SNP RBM39 ENST00000498280 human ensembl 70_37 -1 putative rna NULL NULL 0.115 - - - no_errors RBM39 HGNC ENSG00000131051 66 28 29.79 79 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34326959 34326959 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 34326959 34326959 G C SNP RBM39 ENST00000487604 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RBM39 HGNC ENSG00000131051 87 106 54.92 98 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34327244 34327244 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 34327244 34327244 T C SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors RBM39 HGNC ENSG00000131051 17 4 19.05 29 0 0.00 RBM39 9584 genome.wustl.edu 37 20 34329876 34329876 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34329876 34329876 C T SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.933 - - - no_errors RBM39 HGNC ENSG00000131051 91 38 29.46 99 1 0.99 RBM39 9584 genome.wustl.edu 37 20 34330028 34330028 + RNA SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 34330028 34330028 G C SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors RBM39 HGNC ENSG00000131051 21 6 22.22 39 0 0.00 RBM4 5936 genome.wustl.edu 37 11 66411229 66411229 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 66411229 66411229 G A SNP RBM4 ENST00000310092 human ensembl 70_37 +1 known missense c.721 p.V241M 0.998 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 28 13 30.95 58 0 0.00 RBM4 5936 genome.wustl.edu 37 11 66411229 66411229 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 66411229 66411229 G A SNP RBM4 ENST00000310092 human ensembl 70_37 +1 known missense c.721 p.V241M 0.998 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 30 9 23.08 23 0 0.00 RBM42 79171 genome.wustl.edu 37 19 36125187 36125187 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 36125187 36125187 G A SNP RBM42 ENST00000262633 human ensembl 70_37 +1 known silent c.1047 p.K349 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 34 26 43.33 47 0 0.00 RBM42 79171 genome.wustl.edu 37 19 36128198 36128198 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 36128198 36128198 G A SNP RBM42 ENST00000262633 human ensembl 70_37 +1 known missense c.1274 p.G425D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 36 9 20.00 34 0 0.00 RBM43 375287 genome.wustl.edu 37 2 152107565 152107565 + Missense_Mutation SNP T T G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 152107565 152107565 T G SNP RBM43 ENST00000331426 human ensembl 70_37 -1 known missense c.929 p.K310T 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 37 15 28.85 39 0 0.00 RBM43 375287 genome.wustl.edu 37 2 152112048 152112048 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 2 152112048 152112048 T - DEL RBM43 ENST00000331426 human ensembl 70_37 -1 known frame_shift_del c.213 p.V72fs 0.948 pfscan_RRM_dom pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 11 5 31.25 9 0 0.00 RBM43 375287 genome.wustl.edu 37 2 152117885 152117885 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152117885 152117885 G T SNP RBM43 ENST00000409092 human ensembl 70_37 -1 putative missense c.142 p.R48S 0.001 NULL NULL - no_errors RBM43 HGNC ENSG00000184898 111 33 22.92 116 0 0.00 RBM44 375316 genome.wustl.edu 37 2 238725989 238725989 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 238725989 238725989 G T SNP RBM44 ENST00000316997 human ensembl 70_37 +1 known missense c.430 p.V144F 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 10 11 52.38 29 0 0.00 RBM45 129831 genome.wustl.edu 37 2 178982797 178982797 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 178982797 178982797 G A SNP RBM45 ENST00000286070 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 9 5 35.71 22 0 0.00 RBM45 129831 genome.wustl.edu 37 2 178985070 178985070 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 178985070 178985070 G C SNP RBM45 ENST00000286070 human ensembl 70_37 +1 known missense c.607 p.D203H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 16 15 48.39 44 0 0.00 RBM46 166863 genome.wustl.edu 37 4 155718042 155718042 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 155718042 155718042 C T SNP RBM46 ENST00000281722 human ensembl 70_37 +1 known silent c.138 p.G46 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 42 27 39.13 100 1 0.99 RBM46 166863 genome.wustl.edu 37 4 155719379 155719379 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 155719379 155719379 G T SNP RBM46 ENST00000281722 human ensembl 70_37 +1 known nonsense c.568 p.E190* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 35 4 10.26 33 0 0.00 RBM4B 83759 genome.wustl.edu 37 11 66444408 66444408 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 66444408 66444408 G A SNP RBM4B ENST00000310046 human ensembl 70_37 -1 known missense c.143 p.A48V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 81 10 10.99 129 0 0.00 RBM4B 83759 genome.wustl.edu 37 11 66444539 66444539 + Silent SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 66444539 66444539 C G SNP RBM4B ENST00000310046 human ensembl 70_37 -1 known silent c.12 p.L4 0.996 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 27 15 35.71 42 0 0.00 RBM5 10181 genome.wustl.edu 37 3 50137419 50137419 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50137419 50137419 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.344 p.R115P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 36 10 21.74 32 0 0.00 RBM5 10181 genome.wustl.edu 37 3 50138005 50138005 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 50138005 50138005 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.450 p.L150F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 33 25 43.10 60 0 0.00 RBM5 10181 genome.wustl.edu 37 3 50141706 50141706 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 50141706 50141706 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.593 p.R198T 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 45 19 29.69 51 0 0.00 RBM5 10181 genome.wustl.edu 37 3 50151469 50151469 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50151469 50151469 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.1704 p.L568F 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 66 22 25.00 87 0 0.00 RBM5 10181 genome.wustl.edu 37 3 50155888 50155889 + Frame_Shift_Del DEL GA GA - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 50155888 50155889 GA - DEL RBM5 ENST00000347869 human ensembl 70_37 +1 known frame_shift_del c.2447_2448 p.*816fs 1.000:0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 16 7 30.43 35 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50005788 50005788 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50005788 50005788 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known silent c.930 p.V310 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 18 8 30.77 21 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50005798 50005798 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 50005798 50005798 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.940 p.E314K 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 22 8 26.67 24 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50005813 50005813 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 50005813 50005813 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.955 p.D319N 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 20 8 28.57 25 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50006066 50006066 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 50006066 50006066 G T SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.1208 p.S403I 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 24 3 11.11 29 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50095409 50095409 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 50095409 50095409 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.1942 p.E648K 0.999 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 25 13 34.21 45 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50098409 50098409 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 50098409 50098409 C G SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.2249 p.S750C 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 76 37 32.74 143 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50114529 50114529 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 50114529 50114529 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.3335 p.R1112Q 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 42 33 44.00 56 0 0.00 RBM6 10180 genome.wustl.edu 37 3 50114561 50114561 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 50114561 50114561 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.3367 p.D1123N 0.997 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 79 37 31.90 119 0 0.00 RBM7 10179 genome.wustl.edu 37 11 114278508 114278508 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114278508 114278508 A C SNP RBM7 ENST00000540163 human ensembl 70_37 +1 known missense c.780 p.K260N 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC ENSG00000076053 31 14 31.11 101 0 0.00 RBMS1 5937 genome.wustl.edu 37 2 161130832 161130832 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 161130832 161130832 C T SNP RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMS1 HGNC ENSG00000153250 9 15 62.50 27 0 0.00 RBMS1 5937 genome.wustl.edu 37 2 161130979 161130982 + RNA DEL TTTC TTTC - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 161130979 161130982 TTTC - DEL RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC ENSG00000153250 18 4 18.18 12 0 0.00 RBMS1 5937 genome.wustl.edu 37 2 161130979 161130982 + RNA DEL TTTC TTTC - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 161130979 161130982 TTTC - DEL RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC ENSG00000153250 24 4 14.29 28 0 0.00 RBMS1 5937 genome.wustl.edu 37 2 161143497 161143497 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 161143497 161143497 C G SNP RBMS1 ENST00000392753 human ensembl 70_37 -1 known missense c.739 p.E247Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 117 18 13.33 114 0 0.00 RBMS1 5937 genome.wustl.edu 37 2 161157214 161157214 + Silent SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 161157214 161157214 A G SNP RBMS1 ENST00000392753 human ensembl 70_37 -1 known silent c.588 p.A196 0.889 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 27 20 42.55 31 0 0.00 RBMS3 27303 genome.wustl.edu 37 3 29781258 29781258 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 29781258 29781258 T G SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known missense c.447 p.I149M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 30 18 37.50 57 0 0.00 RBMS3 27303 genome.wustl.edu 37 3 29781260 29781260 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 29781260 29781260 C A SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known missense c.449 p.S150Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 30 18 37.50 57 0 0.00 RBMX 27316 genome.wustl.edu 37 X 135955584 135955584 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 135955584 135955584 G A SNP RBMX ENST00000496459 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMX HGNC ENSG00000147274 23 15 39.47 29 0 0.00 RBMX 27316 genome.wustl.edu 37 X 135961560 135961560 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 135961560 135961560 C G SNP RBMX ENST00000320676 human ensembl 70_37 -1 known missense c.27 p.K9N 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 37 27 42.19 37 0 0.00 RBMX2 51634 genome.wustl.edu 37 X 129535995 129535995 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129535995 129535995 G C SNP RBMX2 ENST00000469953 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBMX2 HGNC ENSG00000134597 28 27 49.09 75 0 0.00 RBMX2 51634 genome.wustl.edu 37 X 129536100 129536100 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129536100 129536100 G A SNP RBMX2 ENST00000469953 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBMX2 HGNC ENSG00000134597 36 22 37.93 59 0 0.00 RBMX2 51634 genome.wustl.edu 37 X 129543342 129543342 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 129543342 129543342 C T SNP RBMX2 ENST00000305536 human ensembl 70_37 +1 known silent c.285 p.D95 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 50 6 10.71 47 0 0.00 RBMX2 51634 genome.wustl.edu 37 X 129546420 129546420 + Silent SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 129546420 129546420 C A SNP RBMX2 ENST00000305536 human ensembl 70_37 +1 known silent c.567 p.P189 0.277 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 37 13 26.00 46 0 0.00 RBMXL1 494115 genome.wustl.edu 37 1 89448377 89448377 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 89448377 89448377 C T SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.1133 p.G378E 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 56 40 41.67 88 0 0.00 RBMXL1 494115 genome.wustl.edu 37 1 89448812 89448812 + Missense_Mutation SNP T T G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 89448812 89448812 T G SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.698 p.D233A 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 140 40 22.22 168 1 0.59 RBMXL1 494115 genome.wustl.edu 37 1 89448842 89448842 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 89448842 89448842 C G SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.668 p.R223T 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 90 55 37.93 91 0 0.00 RBMXL1 494115 genome.wustl.edu 37 1 89449631 89449631 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 89449631 89449631 G A SNP RBMXL1 ENST00000413769 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RBMXL1 HGNC ENSG00000213516 32 7 17.95 33 0 0.00 RBMXL2 27288 genome.wustl.edu 37 11 7110706 7110706 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 7110706 7110706 C T SNP RBMXL2 ENST00000306904 human ensembl 70_37 +1 known missense c.355 p.R119W 0.415 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 4 6 50.00 16 0 0.00 RBMXL2 27288 genome.wustl.edu 37 11 7111523 7111523 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 7111523 7111523 G C SNP RBMXL2 ENST00000306904 human ensembl 70_37 +1 known missense c.1172 p.R391T 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 28 18 39.13 45 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424064 114424064 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 114424064 114424064 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.60 p.D20 0.890 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 25 8 24.24 29 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424169 114424169 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 114424169 114424169 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.165 p.T55 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 54 18 25.00 82 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424716 114424716 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 114424716 114424716 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known missense c.712 p.R238W 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 22 3 12.00 11 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424872 114424872 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 114424872 114424872 G C SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.029 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 85 31 26.72 73 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424925 114424925 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 114424925 114424925 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.921 p.Y307 0.180 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 93 18 16.22 117 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114424964 114424964 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 114424964 114424964 G A SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.960 p.P320 0.203 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 114 23 16.79 154 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114426138 114426138 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 114426138 114426138 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known nonsense c.2134 p.R712* 0.021 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 86 12 12.24 76 0 0.00 RBMXL3 139804 genome.wustl.edu 37 X 114427079 114427079 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 114427079 114427079 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.3075 p.L1025 0.439 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 23 13 36.11 44 0 0.00 RBP3 5949 genome.wustl.edu 37 10 48388081 48388081 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 48388081 48388081 G A SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known silent c.2797 p.L933 0.997 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 19 7 26.92 25 0 0.00 RBP3 5949 genome.wustl.edu 37 10 48388181 48388181 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 48388181 48388181 C G SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known missense c.2697 p.M899I 0.988 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 32 13 28.89 69 0 0.00 RBP3 5949 genome.wustl.edu 37 10 48388541 48388541 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 48388541 48388541 C T SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known silent c.2337 p.V779 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 89 33 27.05 79 0 0.00 RBP3 5949 genome.wustl.edu 37 10 48390628 48390628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 48390628 48390628 C T SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known missense c.250 p.D84N 1.000 pfam_Interphotorcpt_retinol-bd_N pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 113 37 24.67 176 0 0.00 RBP5 83758 genome.wustl.edu 37 12 7277327 7277327 + Splice_Site SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 7277327 7277327 C G SNP RBP5 ENST00000266560 human ensembl 70_37 -1 known splice_site c.253-1 e3-1 1.000 - - - no_errors RBP5 HGNC ENSG00000139194 20 9 31.03 35 0 0.00 RBP7 116362 genome.wustl.edu 37 1 10075889 10075889 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 10075889 10075889 G A SNP RBP7 ENST00000315901 human ensembl 70_37 +1 known silent c.545 p.*182 0.994 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors RBP7 HGNC ENSG00000162444 33 13 28.26 51 0 0.00 RBPJ 3516 genome.wustl.edu 37 4 26364133 26364133 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 26364133 26364133 C G SNP RBPJ ENST00000511401 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBPJ HGNC ENSG00000168214 24 7 22.58 27 0 0.00 RBPJ 3516 genome.wustl.edu 37 4 26417194 26417194 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 26417194 26417194 C T SNP RBPJ ENST00000342295 human ensembl 70_37 +1 known nonsense c.292 p.Q98* 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT_TIG_rcpt,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 12 4 25.00 9 0 0.00 RBPJL 11317 genome.wustl.edu 37 20 43944934 43944934 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 43944934 43944934 G A SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known silent c.1128 p.A376 0.601 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 124 65 34.03 63 0 0.00 RBPJL 11317 genome.wustl.edu 37 20 43944948 43944948 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 43944948 43944948 C T SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known missense c.1142 p.P381L 0.999 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 32 31 49.21 75 0 0.00 RBPJL 11317 genome.wustl.edu 37 20 43945198 43945198 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 43945198 43945198 G A SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known missense c.1258 p.V420M 0.995 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 38 46 54.76 43 0 0.00 RBPMS 11030 genome.wustl.edu 37 8 30416465 30416465 + Nonstop_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 30416465 30416465 G T SNP RBPMS ENST00000320203 human ensembl 70_37 +1 known nonstop c.590 p.*197L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 17 4 19.05 46 0 0.00 RBX1 9978 genome.wustl.edu 37 22 41349561 41349561 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41349561 41349561 G C SNP RBX1 ENST00000216225 human ensembl 70_37 +1 known missense c.81 p.W27C 1.000 NULL pfscan_Znf_RING - no_errors RBX1 HGNC ENSG00000100387 57 29 33.72 87 0 0.00 RC3H1 149041 genome.wustl.edu 37 1 173915654 173915654 + Missense_Mutation SNP T T A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 173915654 173915654 T A SNP RC3H1 ENST00000258349 human ensembl 70_37 -1 known missense c.2921 p.N974I 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 49 45 47.87 54 0 0.00 RC3H1 149041 genome.wustl.edu 37 1 173961967 173961967 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 173961967 173961967 C G SNP RC3H1 ENST00000258349 human ensembl 70_37 -1 known missense c.157 p.D53H 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 53 41 43.62 44 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125613673 125613673 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125613673 125613673 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.3160 p.D1054H 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 23 17 42.50 36 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125616293 125616293 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 125616293 125616293 C A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.3055 p.D1019Y 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 71 28 28.28 144 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125617541 125617541 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 125617541 125617541 G A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.2737 p.R913C 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 56 14 20.00 64 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125621235 125621235 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 125621235 125621235 G A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known nonsense c.1996 p.R666* 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 26 5 16.13 34 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125639816 125639816 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 125639816 125639816 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.1259 p.R420P 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 30 25 45.45 36 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125645647 125645647 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125645647 125645647 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.595 p.E199Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 33 13 28.26 56 0 0.00 RC3H2 54542 genome.wustl.edu 37 9 125667492 125667492 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 125667492 125667492 G A SNP RC3H2 ENST00000478216 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RC3H2 HGNC ENSG00000056586 4 4 50.00 11 0 0.00 RCAN2 10231 genome.wustl.edu 37 6 46214590 46214590 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46214590 46214590 G T SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known missense c.466 p.L156I 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN2 HGNC ENSG00000172348 21 7 25.00 33 0 0.00 RCAN2 10231 genome.wustl.edu 37 6 46424540 46424540 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 46424540 46424540 C T SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known silent c.174 p.S58 0.035 NULL pfam_Calcipressin - no_errors RCAN2 HGNC ENSG00000172348 30 15 33.33 30 0 0.00 RCAN3 11123 genome.wustl.edu 37 1 24857861 24857861 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 24857861 24857861 C G SNP RCAN3 ENST00000374395 human ensembl 70_37 +1 known missense c.349 p.L117V 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC ENSG00000117602 30 9 23.08 43 0 0.00 RCAN3 11123 genome.wustl.edu 37 1 24861651 24861651 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 24861651 24861651 G A SNP RCAN3 ENST00000374395 human ensembl 70_37 +1 known missense c.610 p.E204K 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC ENSG00000117602 51 20 27.78 95 0 0.00 RCBTB2 1102 genome.wustl.edu 37 13 49075957 49075957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 49075957 49075957 C G SNP RCBTB2 ENST00000430805 human ensembl 70_37 -1 known missense c.1180 p.D394H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 29 31 51.67 51 0 0.00 RCBTB2 1102 genome.wustl.edu 37 13 49075967 49075967 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 49075967 49075967 C T SNP RCBTB2 ENST00000430805 human ensembl 70_37 -1 known silent c.1170 p.K390 1.000 superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 34 31 47.69 49 0 0.00 RCC1 1104 genome.wustl.edu 37 1 28861792 28861792 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 28861792 28861792 G A SNP RCC1 ENST00000373831 human ensembl 70_37 +1 known silent c.654 p.L218 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 36 29 44.62 68 0 0.00 RCC1 1104 genome.wustl.edu 37 1 28862519 28862519 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 28862519 28862519 C T SNP RCC1 ENST00000373831 human ensembl 70_37 +1 known silent c.891 p.L297 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 48 14 22.58 60 0 0.00 RCC2 55920 genome.wustl.edu 37 1 17735520 17735520 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 17735520 17735520 G A SNP RCC2 ENST00000474892 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors RCC2 HGNC ENSG00000179051 53 14 20.90 43 0 0.00 RCE1 9986 genome.wustl.edu 37 11 66612502 66612502 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 66612502 66612502 G C SNP RCE1 ENST00000309657 human ensembl 70_37 +1 known missense c.614 p.G205A 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 69 24 25.53 73 0 0.00 RCHY1 25898 genome.wustl.edu 37 4 76439453 76439453 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 4 76439453 76439453 C T SNP RCHY1 ENST00000324439 human ensembl 70_37 -1 known missense c.44 p.R15Q 0.005 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 66 16 19.51 75 0 0.00 RCN2 5955 genome.wustl.edu 37 15 77239850 77239850 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 77239850 77239850 G T SNP RCN2 ENST00000394885 human ensembl 70_37 +1 known missense c.650 p.W217L 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN2 HGNC ENSG00000117906 26 4 13.33 36 0 0.00 RCOR1 23186 genome.wustl.edu 37 14 103173771 103173771 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 103173771 103173771 G A SNP RCOR1 ENST00000262241 human ensembl 70_37 +1 known silent c.582 p.E194 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom - no_errors RCOR1 HGNC ENSG00000089902 49 6 10.91 52 0 0.00 RCOR1 23186 genome.wustl.edu 37 14 103180763 103180763 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 103180763 103180763 C T SNP RCOR1 ENST00000262241 human ensembl 70_37 +1 known missense c.862 p.P288S 0.997 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom - no_errors RCOR1 HGNC ENSG00000089902 43 6 12.24 19 0 0.00 RCOR2 283248 genome.wustl.edu 37 11 63682379 63682379 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 63682379 63682379 C G SNP RCOR2 ENST00000301459 human ensembl 70_37 -1 known missense c.313 p.E105Q 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 23 38 62.30 48 0 0.00 RCSD1 92241 genome.wustl.edu 37 1 167663477 167663477 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 167663477 167663477 G A SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known missense c.412 p.E138K 1.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 29 12 29.27 30 0 0.00 RCSD1 92241 genome.wustl.edu 37 1 167666419 167666419 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 167666419 167666419 T C SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known silent c.558 p.D186 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 7 13 65.00 33 0 0.00 RCSD1 92241 genome.wustl.edu 37 1 167666535 167666535 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167666535 167666535 G A SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known missense c.674 p.G225E 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 67 46 40.71 79 0 0.00 RCSD1 92241 genome.wustl.edu 37 1 167673909 167673909 + Silent SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167673909 167673909 T C SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known silent c.1227 p.T409 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 48 19 28.36 46 0 0.00 NELFE 7936 genome.wustl.edu 37 6 31922450 31922450 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 31922450 31922450 C T SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.624 p.R208 0.004 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC ENSG00000204356 13 5 27.78 23 0 0.00 NELFE 7936 genome.wustl.edu 37 6 31926158 31926158 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 31926158 31926158 G C SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.66 p.L22 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC ENSG00000204356 158 28 15.05 236 0 0.00 NELFE 7936 genome.wustl.edu 37 6 31926167 31926167 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 31926167 31926167 G A SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.57 p.F19 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC ENSG00000204356 164 28 14.58 238 0 0.00 RDH10 157506 genome.wustl.edu 37 8 74235004 74235004 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 74235004 74235004 C G SNP RDH10 ENST00000240285 human ensembl 70_37 +1 known missense c.861 p.I287M 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 32 7 17.95 35 0 0.00 RDH13 112724 genome.wustl.edu 37 19 55558771 55558771 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55558771 55558771 G A SNP RDH13 ENST00000415061 human ensembl 70_37 -1 known silent c.744 p.F248 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 85 20 19.05 75 0 0.00 RDH13 112724 genome.wustl.edu 37 19 55559864 55559864 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 55559864 55559864 G A SNP RDH13 ENST00000415061 human ensembl 70_37 -1 known missense c.491 p.S164L 0.978 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 62 8 11.27 51 0 0.00 RDH16 8608 genome.wustl.edu 37 12 57351166 57351166 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57351166 57351166 C T SNP RDH16 ENST00000398138 human ensembl 70_37 -1 known silent c.81 p.L27 0.007 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 48 29 37.18 46 0 0.00 RDH8 50700 genome.wustl.edu 37 19 10131965 10131965 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 10131965 10131965 G A SNP RDH8 ENST00000591589 human ensembl 70_37 +1 known missense c.631 p.E211K 0.979 pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 26 8 23.53 50 0 0.00 RDM1 201299 genome.wustl.edu 37 17 34251737 34251737 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 34251737 34251737 C G SNP RDM1 ENST00000293273 human ensembl 70_37 -1 known missense c.439 p.D147H 0.198 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 36 14 28.00 19 0 0.00 RDM1 201299 genome.wustl.edu 37 17 34252522 34252522 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 34252522 34252522 G A SNP RDM1 ENST00000293273 human ensembl 70_37 -1 known silent c.396 p.I132 0.996 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 14 6 30.00 29 0 0.00 RDX 5962 genome.wustl.edu 37 11 110124692 110124692 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 110124692 110124692 T G SNP RDX ENST00000530749 human ensembl 70_37 -1 known missense c.938 p.K313T 1.000 pirsf_ERM pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 38 5 11.63 68 0 0.00 RDX 5962 genome.wustl.edu 37 11 110135560 110135560 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 110135560 110135560 C T SNP RDX ENST00000530749 human ensembl 70_37 -1 known missense c.136 p.G46R 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 29 15 34.09 44 0 0.00 REC8 9985 genome.wustl.edu 37 14 24649099 24649099 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 24649099 24649099 C T SNP REC8 ENST00000311457 human ensembl 70_37 +1 known silent c.1542 p.F514 1.000 pfam_Rad21/Rec8_C_eu pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 24 17 40.48 32 0 0.00 RECK 8434 genome.wustl.edu 37 9 36063807 36063807 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36063807 36063807 C G SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.287 p.S96C 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC ENSG00000122707 56 35 38.46 85 0 0.00 RECK 8434 genome.wustl.edu 37 9 36065608 36065608 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 36065608 36065608 G T SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.392 p.R131I 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC ENSG00000122707 21 4 16.00 23 0 0.00 RECK 8434 genome.wustl.edu 37 9 36117064 36117064 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 36117064 36117064 G A SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.2143 p.A715T 0.030 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC ENSG00000122707 23 18 43.90 22 0 0.00 RECK 8434 genome.wustl.edu 37 9 36117064 36117064 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 36117064 36117064 G A SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.2143 p.A715T 0.030 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC ENSG00000122707 59 54 47.37 98 0 0.00 RECQL 5965 genome.wustl.edu 37 12 21624448 21624448 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 21624448 21624448 C T SNP RECQL ENST00000421138 human ensembl 70_37 -1 known silent c.1581 p.L527 0.040 pfam_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 41 5 10.87 84 0 0.00 RECQL 5965 genome.wustl.edu 37 12 21629873 21629873 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 21629873 21629873 G C SNP RECQL ENST00000421138 human ensembl 70_37 -1 known silent c.921 p.L307 1.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 26 12 31.58 28 0 0.00 RECQL 5965 genome.wustl.edu 37 12 21636484 21636484 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 21636484 21636484 C T SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.526 p.E176K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 43 13 23.21 44 0 0.00 RECQL 5965 genome.wustl.edu 37 12 21639444 21639444 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 21639444 21639444 G A SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.470 p.S157L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 55 14 20.29 77 0 0.00 RECQL 5965 genome.wustl.edu 37 12 21643286 21643286 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21643286 21643286 C A SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.241 p.D81Y 0.676 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 12 7 36.84 30 0 0.00 RECQL4 9401 genome.wustl.edu 37 8 145737344 145737344 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145737344 145737344 C G SNP RECQL4 ENST00000301323 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RECQL4 HGNC ENSG00000160957 28 11 28.21 24 0 0.00 RECQL4 9401 genome.wustl.edu 37 8 145742524 145742524 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 145742524 145742524 C A SNP RECQL4 ENST00000428558 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RECQL4 HGNC ENSG00000160957 53 14 20.90 56 0 0.00 RECQL5 9400 genome.wustl.edu 37 17 73624459 73624459 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 73624459 73624459 C T SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known missense c.2644 p.E882K 0.831 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 40 5 11.11 50 0 0.00 RECQL5 9400 genome.wustl.edu 37 17 73624482 73624482 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 73624482 73624482 G A SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known missense c.2621 p.S874L 0.027 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 81 15 15.62 105 0 0.00 RECQL5 9400 genome.wustl.edu 37 17 73654526 73654526 + Nonsense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 73654526 73654526 C T SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known nonsense c.1001 p.W334* 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 117 21 15.22 175 0 0.00 REEP1 65055 genome.wustl.edu 37 2 86444209 86444209 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 86444209 86444209 G C SNP REEP1 ENST00000541910 human ensembl 70_37 -1 known missense c.385 p.R129G 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP1 HGNC ENSG00000068615 58 50 46.30 109 0 0.00 REEP2 51308 genome.wustl.edu 37 5 137780478 137780478 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 137780478 137780478 G C SNP REEP2 ENST00000378339 human ensembl 70_37 +1 known missense c.339 p.K113N 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP2 HGNC ENSG00000132563 44 14 24.14 49 0 0.00 REEP4 80346 genome.wustl.edu 37 8 21995920 21995920 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 21995920 21995920 G C SNP REEP4 ENST00000523293 human ensembl 70_37 -1 putative missense c.699 p.I233M 0.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 25 7 21.88 22 0 0.00 REEP4 80346 genome.wustl.edu 37 8 21995954 21995954 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 21995954 21995954 G C SNP REEP4 ENST00000523293 human ensembl 70_37 -1 putative missense c.665 p.S222C 0.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 41 17 29.31 44 0 0.00 REEP4 80346 genome.wustl.edu 37 8 21996983 21996983 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 8 21996983 21996983 G T SNP REEP4 ENST00000306306 human ensembl 70_37 -1 known missense c.363 p.F121L 0.998 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 34 12 26.09 59 0 0.00 REEP5 7905 genome.wustl.edu 37 5 112257809 112257809 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 112257809 112257809 C T SNP REEP5 ENST00000379638 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP5 HGNC ENSG00000129625 69 13 15.85 101 0 0.00 REEP6 92840 genome.wustl.edu 37 19 1496286 1496286 + Nonsense_Mutation SNP C C A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 1496286 1496286 C A SNP REEP6 ENST00000233596 human ensembl 70_37 +1 known nonsense c.351 p.C117* 0.979 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC ENSG00000115255 9 8 44.44 62 0 0.00 REEP6 92840 genome.wustl.edu 37 19 1496287 1496287 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 1496287 1496287 G A SNP REEP6 ENST00000233596 human ensembl 70_37 +1 known missense c.352 p.A118T 0.969 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC ENSG00000115255 30 13 30.23 52 0 0.00 REG1A 5967 genome.wustl.edu 37 2 79348029 79348029 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 79348029 79348029 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known silent c.42 p.L14 0.117 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 37 13 26.00 67 0 0.00 REG1A 5967 genome.wustl.edu 37 2 79348786 79348786 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 79348786 79348786 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known missense c.163 p.E55K 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 55 36 39.56 122 0 0.00 REG1A 5967 genome.wustl.edu 37 2 79349971 79349971 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 79349971 79349971 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known missense c.326 p.R109H 0.865 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 131 49 27.22 71 0 0.00 REG1B 5968 genome.wustl.edu 37 2 79312385 79312385 + Missense_Mutation SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 79312385 79312385 G C SNP REG1B ENST00000305089 human ensembl 70_37 -1 known missense c.458 p.S153C 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 34 11 24.44 58 0 0.00 REG1B 5968 genome.wustl.edu 37 2 79313499 79313499 + Silent SNP T T G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 79313499 79313499 T G SNP REG1B ENST00000305089 human ensembl 70_37 -1 known silent c.315 p.P105 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 20 13 39.39 57 0 0.00 REG1B 5968 genome.wustl.edu 37 2 79313951 79313951 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 79313951 79313951 C A SNP REG1B ENST00000305089 human ensembl 70_37 -1 known missense c.170 p.W57L 0.871 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 155 63 28.90 222 0 0.00 REG1P 5969 genome.wustl.edu 37 2 79363999 79363999 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 79363999 79363999 C G SNP REG1P ENST00000377435 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors REG1P HGNC ENSG00000204787 7 11 61.11 9 0 0.00 REG3A 5068 genome.wustl.edu 37 2 79385787 79385787 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 79385787 79385787 G A SNP REG3A ENST00000305165 human ensembl 70_37 -1 known missense c.185 p.T62I 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC ENSG00000172016 38 10 20.83 47 0 0.00 REG3A 5068 genome.wustl.edu 37 2 79386527 79386527 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 79386527 79386527 A G SNP REG3A ENST00000305165 human ensembl 70_37 -1 known missense c.5 p.L2P 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC ENSG00000172016 119 16 11.85 109 1 0.91 REG4 83998 genome.wustl.edu 37 1 120342438 120342438 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 120342438 120342438 C T SNP REG4 ENST00000256585 human ensembl 70_37 -1 known silent c.213 p.L71 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG4 HGNC ENSG00000134193 181 78 30.00 218 0 0.00 REL 5966 genome.wustl.edu 37 2 61144086 61144086 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 61144086 61144086 C G SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 105 74 41.11 169 0 0.00 REL 5966 genome.wustl.edu 37 2 61144086 61144086 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 61144086 61144086 C G SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.469 p.P157A 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 46 34 42.50 31 0 0.00 REL 5966 genome.wustl.edu 37 2 61145397 61145397 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 61145397 61145397 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.607 p.E203K 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 30 24 44.44 48 0 0.00 REL 5966 genome.wustl.edu 37 2 61147541 61147541 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 61147541 61147541 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.946 p.D316N 0.006 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 17 13 43.33 42 0 0.00 REL 5966 genome.wustl.edu 37 2 61149532 61149532 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 61149532 61149532 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.1722 p.M574I 0.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 23 14 37.84 56 0 0.00 RELA 5970 genome.wustl.edu 37 11 65422192 65422192 + Missense_Mutation SNP T T A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65422192 65422192 T A SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.1313 p.E438V 0.992 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 13 5 27.78 10 0 0.00 RELA 5970 genome.wustl.edu 37 11 65422193 65422193 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65422193 65422193 C G SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.1312 p.E438Q 0.932 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 13 5 27.78 9 0 0.00 RELA 5970 genome.wustl.edu 37 11 65423153 65423153 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423153 65423153 C A SNP RELA ENST00000525693 human ensembl 70_37 -1 putative missense c.1039 p.D347Y 0.702 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 27 8 22.86 31 0 0.00 RELA 5970 genome.wustl.edu 37 11 65423345 65423345 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423345 65423345 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.939 p.M313I 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 28 10 26.32 30 0 0.00 RELA 5970 genome.wustl.edu 37 11 65423365 65423365 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423365 65423365 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.919 p.E307K 0.991 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 25 8 24.24 24 0 0.00 RELA 5970 genome.wustl.edu 37 11 65423404 65423404 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423404 65423404 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.880 p.D294N 1.000 superfamily_Ig_E-set,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 24 3 11.11 24 0 0.00 RELA 5970 genome.wustl.edu 37 11 65429479 65429479 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 65429479 65429479 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.115 p.E39K 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 32 23 41.82 47 0 0.00 RELA 5970 genome.wustl.edu 37 11 65429492 65429492 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65429492 65429492 G A SNP RELA ENST00000406246 human ensembl 70_37 -1 known silent c.102 p.F34 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 11 8 42.11 16 0 0.00 RELB 5971 genome.wustl.edu 37 19 45506232 45506232 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 45506232 45506232 G A SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.132 p.S44 0.086 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC ENSG00000104856 15 8 34.78 30 0 0.00 RELB 5971 genome.wustl.edu 37 19 45532204 45532204 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 45532204 45532204 C T SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.945 p.C315 0.913 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC ENSG00000104856 30 28 48.28 28 0 0.00 RELB 5971 genome.wustl.edu 37 19 45537560 45537560 + Silent SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 45537560 45537560 G C SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.1266 p.L422 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC ENSG00000104856 116 13 10.08 128 0 0.00 RELL2 285613 genome.wustl.edu 37 5 141017340 141017340 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 141017340 141017340 G A SNP RELL2 ENST00000518025 human ensembl 70_37 +1 known rna NULL NULL 0.582 - - - no_errors RELL2 HGNC ENSG00000164620 22 9 29.03 49 0 0.00 RELL2 285613 genome.wustl.edu 37 5 141017496 141017496 + RNA SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 141017496 141017496 G C SNP RELL2 ENST00000518025 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RELL2 HGNC ENSG00000164620 16 4 20.00 9 0 0.00 RELL2 285613 genome.wustl.edu 37 5 141018420 141018420 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141018420 141018420 G A SNP RELL2 ENST00000297164 human ensembl 70_37 +1 known silent c.243 p.Q81 1.000 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC ENSG00000164620 33 13 28.26 51 0 0.00 RELL2 285613 genome.wustl.edu 37 5 141019656 141019656 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 141019656 141019656 G A SNP RELL2 ENST00000297164 human ensembl 70_37 +1 known missense c.673 p.E225K 0.023 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC ENSG00000164620 32 18 36.00 28 0 0.00 RELN 5649 genome.wustl.edu 37 7 103138565 103138565 + Silent SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 103138565 103138565 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.8802 p.V2934 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 45 12 21.05 61 0 0.00 RELN 5649 genome.wustl.edu 37 7 103141295 103141295 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 103141295 103141295 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.8564 p.G2855E 1.000 superfamily_Neuraminidase,smart_EG-like_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 189 27 12.44 267 0 0.00 RELN 5649 genome.wustl.edu 37 7 103143563 103143563 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 103143563 103143563 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.8389 p.D2797N 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 48 38 44.19 62 0 0.00 RELN 5649 genome.wustl.edu 37 7 103162496 103162496 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 103162496 103162496 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.7641 p.A2547 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 20 24 54.55 35 0 0.00 RELN 5649 genome.wustl.edu 37 7 103183222 103183222 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 103183222 103183222 G T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.6627 p.G2209 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 35 4 10.26 29 0 0.00 RELN 5649 genome.wustl.edu 37 7 103191670 103191670 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 103191670 103191670 G A SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6146 p.A2049V 1.000 pfam_BNR_rpt,superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 27 4 12.50 35 0 0.00 RELN 5649 genome.wustl.edu 37 7 103191723 103191723 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 103191723 103191723 A T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.6093 p.T2031 0.987 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 33 18 35.29 42 0 0.00 RELN 5649 genome.wustl.edu 37 7 103193976 103193976 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 103193976 103193976 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6004 p.E2002K 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 49 6 10.91 36 0 0.00 RELN 5649 genome.wustl.edu 37 7 103193976 103193976 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 103193976 103193976 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6004 p.E2002K 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 67 13 16.25 118 0 0.00 RELN 5649 genome.wustl.edu 37 7 103214561 103214561 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 103214561 103214561 G T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.4489 p.P1497T 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 26 20 43.48 57 0 0.00 RELN 5649 genome.wustl.edu 37 7 103243750 103243750 + Splice_Site SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 103243750 103243750 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known splice_site c.3333+1 e24+1 1.000 - - - no_errors RELN HGNC ENSG00000189056 46 18 28.12 71 0 0.00 RELN 5649 genome.wustl.edu 37 7 103268373 103268373 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 103268373 103268373 C T SNP RELN ENST00000473457 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RELN HGNC ENSG00000189056 27 28 50.00 52 0 0.00 RELN 5649 genome.wustl.edu 37 7 103270624 103270624 + Splice_Site SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 103270624 103270624 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known splice_site c.2466-1 e20-1 1.000 - - - no_errors RELN HGNC ENSG00000189056 10 4 28.57 9 0 0.00 REM1 28954 genome.wustl.edu 37 20 30064251 30064251 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 30064251 30064251 G A SNP REM1 ENST00000201979 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 113 21 15.56 95 0 0.00 REM1 28954 genome.wustl.edu 37 20 30064251 30064251 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 30064251 30064251 G A SNP REM1 ENST00000201979 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 38 7 15.56 23 0 0.00 REM2 161253 genome.wustl.edu 37 14 23354206 23354206 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 23354206 23354206 C G SNP REM2 ENST00000267396 human ensembl 70_37 +1 known missense c.427 p.H143D 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase - no_errors REM2 HGNC ENSG00000139890 51 12 19.05 90 0 0.00 REN 5972 genome.wustl.edu 37 1 204129706 204129706 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 204129706 204129706 G A SNP REN ENST00000272190 human ensembl 70_37 -1 known silent c.474 p.L158 0.763 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC ENSG00000143839 35 15 30.00 61 0 0.00 REN 5972 genome.wustl.edu 37 1 204131240 204131240 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 204131240 204131240 A G SNP REN ENST00000272190 human ensembl 70_37 -1 known silent c.150 p.G50 0.120 pfam_Propep_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC ENSG00000143839 67 17 20.24 108 0 0.00 REN 5972 genome.wustl.edu 37 1 204131262 204131262 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 204131262 204131262 C G SNP REN ENST00000272190 human ensembl 70_37 -1 known missense c.128 p.R43P 0.946 pfam_Propep_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC ENSG00000143839 72 19 20.88 55 0 0.00 REPIN1 29803 genome.wustl.edu 37 7 150069177 150069177 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 150069177 150069177 C T SNP REPIN1 ENST00000489432 human ensembl 70_37 +1 known missense c.1018 p.R340W 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 27 6 18.18 44 0 0.00 REPIN1 29803 genome.wustl.edu 37 7 150069696 150069696 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 150069696 150069696 G A SNP REPIN1 ENST00000489432 human ensembl 70_37 +1 known missense c.1537 p.D513N 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 37 6 13.95 37 0 0.00 REPS1 85021 genome.wustl.edu 37 6 139229911 139229911 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 139229911 139229911 G A SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known nonsense c.2110 p.R704* 0.965 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 87 34 27.87 118 0 0.00 REPS1 85021 genome.wustl.edu 37 6 139241454 139241454 + Splice_Site SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 139241454 139241454 C G SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known splice_site c.1427-1 e12-1 1.000 - - - no_errors REPS1 HGNC ENSG00000135597 41 22 34.92 29 0 0.00 REPS1 85021 genome.wustl.edu 37 6 139241454 139241454 + Splice_Site SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 6 139241454 139241454 C G SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known splice_site c.1427-1 e12-1 1.000 - - - no_errors REPS1 HGNC ENSG00000135597 49 24 32.88 80 0 0.00 REPS1 85021 genome.wustl.edu 37 6 139265136 139265136 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 139265136 139265136 C T SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known missense c.770 p.R257Q 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 52 32 37.65 43 0 0.00 REPS2 9185 genome.wustl.edu 37 X 17092270 17092270 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 17092270 17092270 G A SNP REPS2 ENST00000357277 human ensembl 70_37 +1 known missense c.1367 p.R456K 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 35 6 14.29 52 0 0.00 REPS2 9185 genome.wustl.edu 37 X 17095395 17095395 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 17095395 17095395 T G SNP REPS2 ENST00000357277 human ensembl 70_37 +1 known missense c.1381 p.S461A 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 47 12 20.34 82 0 0.00 RERE 473 genome.wustl.edu 37 1 8415034 8415034 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 8415034 8415034 G T SNP RERE ENST00000467350 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RERE HGNC ENSG00000142599 6 3 33.33 23 0 0.00 RERE 473 genome.wustl.edu 37 1 8418579 8418579 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 8418579 8418579 G A SNP RERE ENST00000337907 human ensembl 70_37 -1 known missense c.4016 p.P1339L 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 28 21 42.86 44 0 0.00 RERE 473 genome.wustl.edu 37 1 8419925 8419925 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 8419925 8419925 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known missense c.3517 p.E1173K 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 82 29 26.13 109 0 0.00 RERE 473 genome.wustl.edu 37 1 8426005 8426005 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 8426005 8426005 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known nonsense c.1314 p.W438* 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 54 13 19.40 78 0 0.00 RERE 473 genome.wustl.edu 37 1 8568728 8568728 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 8568728 8568728 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known silent c.837 p.L279 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 15 10 40.00 24 0 0.00 RERE 473 genome.wustl.edu 37 1 8716253 8716253 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 8716253 8716253 G C SNP RERE ENST00000337907 human ensembl 70_37 -1 known nonsense c.104 p.S35* 1.000 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 46 31 40.26 95 0 0.00 RERG 85004 genome.wustl.edu 37 12 15262451 15262451 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 15262451 15262451 C T SNP RERG ENST00000256953 human ensembl 70_37 -1 known missense c.193 p.E65K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 69 8 10.39 61 0 0.00 RERGL 79785 genome.wustl.edu 37 12 18234322 18234322 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 18234322 18234322 G T SNP RERGL ENST00000229002 human ensembl 70_37 -1 known missense c.421 p.L141M 0.996 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 16 13 43.33 25 0 0.00 RERGL 79785 genome.wustl.edu 37 12 18238556 18238556 + Nonsense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 18238556 18238556 G A SNP RERGL ENST00000229002 human ensembl 70_37 -1 known nonsense c.184 p.Q62* 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 11 20 64.52 42 0 0.00 RERGL 79785 genome.wustl.edu 37 12 18238577 18238577 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 18238577 18238577 C G SNP RERGL ENST00000229002 human ensembl 70_37 -1 known missense c.163 p.E55Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 22 11 33.33 44 0 0.00 REST 5978 genome.wustl.edu 37 4 57777658 57777658 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 57777658 57777658 C T SNP REST ENST00000309042 human ensembl 70_37 +1 known missense c.854 p.S285L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 15 5 25.00 38 0 0.00 REST 5978 genome.wustl.edu 37 4 57797419 57797419 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 57797419 57797419 C G SNP REST ENST00000309042 human ensembl 70_37 +1 known missense c.2395 p.P799A 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 7 6 46.15 22 0 0.00 RET 5979 genome.wustl.edu 37 10 43608311 43608311 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 43608311 43608311 G A SNP RET ENST00000355710 human ensembl 70_37 +1 known silent c.1659 p.R553 1.000 pirsf_Tyr_kinase_Ret_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC ENSG00000165731 16 17 51.52 31 0 0.00 RET 5979 genome.wustl.edu 37 10 43609028 43609028 + Missense_Mutation SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 43609028 43609028 A C SNP RET ENST00000355710 human ensembl 70_37 +1 known missense c.1784 p.E595A 0.998 pirsf_Tyr_kinase_Ret_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC ENSG00000165731 33 11 25.00 24 0 0.00 RET 5979 genome.wustl.edu 37 10 43615040 43615040 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 43615040 43615040 G A SNP RET ENST00000355710 human ensembl 70_37 +1 known silent c.2454 p.E818 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC ENSG00000165731 27 8 22.86 33 0 0.00 RET 5979 genome.wustl.edu 37 10 43617418 43617418 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 43617418 43617418 G T SNP RET ENST00000355710 human ensembl 70_37 +1 known missense c.2755 p.A919S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC ENSG00000165731 36 4 10.00 37 0 0.00 RETSAT 54884 genome.wustl.edu 37 2 85576669 85576669 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85576669 85576669 C T SNP RETSAT ENST00000295802 human ensembl 70_37 -1 known missense c.835 p.A279T 0.251 pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 36 7 15.56 33 0 0.00 RETSAT 54884 genome.wustl.edu 37 2 85577274 85577274 + Missense_Mutation SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 2 85577274 85577274 G A SNP RETSAT ENST00000295802 human ensembl 70_37 -1 known missense c.688 p.R230C 0.000 pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 18 3 14.29 25 0 0.00 REV1 51455 genome.wustl.edu 37 2 100040681 100040681 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 100040681 100040681 G A SNP REV1 ENST00000258428 human ensembl 70_37 -1 known nonsense c.1609 p.Q537* 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 29 13 30.95 62 0 0.00 REV1 51455 genome.wustl.edu 37 2 100058894 100058894 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 100058894 100058894 G C SNP REV1 ENST00000258428 human ensembl 70_37 -1 known missense c.388 p.Q130E 1.000 superfamily_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 47 17 26.56 64 0 0.00 REV3L 5980 genome.wustl.edu 37 6 111620606 111620608 + RNA DEL AAA AAA - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 111620606 111620608 AAA - DEL REV3L ENST00000462119 human ensembl 70_37 -1 known rna NULL NULL 0.997:1.000:1.000 - - - no_errors REV3L HGNC ENSG00000009413 1 8 88.89 8 0 0.00 REV3L 5980 genome.wustl.edu 37 6 111634580 111634580 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 111634580 111634580 C G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.8579 p.R2860T 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 19 13 40.62 57 0 0.00 REV3L 5980 genome.wustl.edu 37 6 111689105 111689105 + Silent SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 111689105 111689105 A G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known silent c.5886 p.N1962 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 32 14 30.43 58 0 0.00 REV3L 5980 genome.wustl.edu 37 6 111694699 111694699 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 111694699 111694699 C G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.4859 p.S1620T 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 12 6 33.33 22 0 0.00 REV3L 5980 genome.wustl.edu 37 6 111697429 111697429 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 111697429 111697429 G C SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.2129 p.S710C 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 31 14 31.11 39 0 0.00 REXO1 57455 genome.wustl.edu 37 19 1816128 1816128 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 1816128 1816128 G A SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known silent c.3603 p.D1201 0.990 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 35 35 50.00 31 0 0.00 REXO1 57455 genome.wustl.edu 37 19 1817261 1817261 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 1817261 1817261 G C SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known nonsense c.3158 p.S1053* 0.031 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 47 14 22.95 71 0 0.00 REXO1 57455 genome.wustl.edu 37 19 1819021 1819021 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1819021 1819021 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known silent c.2760 p.L920 0.880 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 115 16 12.21 148 1 0.67 REXO1 57455 genome.wustl.edu 37 19 1826912 1826912 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 1826912 1826912 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known missense c.1876 p.V626I 0.998 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 22 10 31.25 40 0 0.00 REXO1 57455 genome.wustl.edu 37 19 1827430 1827430 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 1827430 1827430 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known missense c.1358 p.R453Q 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 7 11 61.11 15 0 0.00 REXO2 25996 genome.wustl.edu 37 11 114315254 114315254 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 114315254 114315254 C G SNP REXO2 ENST00000538791 human ensembl 70_37 +1 putative missense c.31 p.L11V 1.000 smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC ENSG00000076043 24 16 40.00 50 0 0.00 REXO2 25996 genome.wustl.edu 37 11 114320605 114320605 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 114320605 114320605 C T SNP REXO2 ENST00000265881 human ensembl 70_37 +1 known nonsense c.622 p.Q208* 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC ENSG00000076043 158 50 24.04 184 0 0.00 REXO4 57109 genome.wustl.edu 37 9 136276150 136276150 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 136276150 136276150 C T SNP REXO4 ENST00000371942 human ensembl 70_37 -1 known silent c.954 p.L318 0.981 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 15 70 82.35 68 0 0.00 REXO4 57109 genome.wustl.edu 37 9 136277936 136277936 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 136277936 136277936 G A SNP REXO4 ENST00000371942 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 21 14 40.00 24 0 0.00 REXO4 57109 genome.wustl.edu 37 9 136277936 136277936 + Silent SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 136277936 136277936 G A SNP REXO4 ENST00000371942 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 35 19 35.19 42 0 0.00 RFC1 5981 genome.wustl.edu 37 4 39313115 39313115 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39313115 39313115 G A SNP RFC1 ENST00000381897 human ensembl 70_37 -1 known missense c.1438 p.R480W 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 29 12 29.27 45 0 0.00 RFC1 5981 genome.wustl.edu 37 4 39329178 39329178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39329178 39329178 G C SNP RFC1 ENST00000381897 human ensembl 70_37 -1 known missense c.530 p.S177C 1.000 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 70 25 26.32 119 0 0.00 RFC2 5982 genome.wustl.edu 37 7 73646450 73646450 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 73646450 73646450 G C SNP RFC2 ENST00000055077 human ensembl 70_37 -1 known missense c.1051 p.P351A 1.000 NULL pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC ENSG00000049541 106 14 11.57 148 0 0.00 RFC2 5982 genome.wustl.edu 37 7 73657531 73657531 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 73657531 73657531 G A SNP RFC2 ENST00000055077 human ensembl 70_37 -1 known silent c.480 p.I160 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC ENSG00000049541 73 18 19.57 121 0 0.00 RFC3 5983 genome.wustl.edu 37 13 34395290 34395290 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 34395290 34395290 C T SNP RFC3 ENST00000380071 human ensembl 70_37 +1 known missense c.109 p.H37Y 1.000 smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 37 8 17.78 51 0 0.00 RFC5 5985 genome.wustl.edu 37 12 118454660 118454660 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 118454660 118454660 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known missense c.28 p.E10K 0.920 NULL pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 37 28 43.08 114 0 0.00 RFC5 5985 genome.wustl.edu 37 12 118454686 118454686 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 118454686 118454686 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known silent c.54 p.R18 0.997 pfam_DUF815 pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 32 22 40.74 102 0 0.00 RFC5 5985 genome.wustl.edu 37 12 118467597 118467597 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 118467597 118467597 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known missense c.893 p.R298Q 1.000 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 31 18 36.73 65 0 0.00 RFC5 5985 genome.wustl.edu 37 12 118469182 118469182 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118469182 118469182 C G SNP RFC5 ENST00000543153 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RFC5 HGNC ENSG00000111445 7 4 36.36 18 0 0.00 RFFL 117584 genome.wustl.edu 37 17 33348478 33348478 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 33348478 33348478 C A SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.503 p.S168I 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 35 17 32.69 46 0 0.00 RFFL 117584 genome.wustl.edu 37 17 33348478 33348478 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 33348478 33348478 C A SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.503 p.S168I 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 40 8 16.67 25 0 0.00 RFFL 117584 genome.wustl.edu 37 17 33348523 33348523 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 33348523 33348523 G C SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.458 p.P153R 0.002 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 50 17 25.37 66 0 0.00 RFFL 117584 genome.wustl.edu 37 17 33353531 33353531 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 33353531 33353531 C G SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.42 p.Q14H 0.999 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 30 17 36.17 28 0 0.00 RFK 55312 genome.wustl.edu 37 9 79002231 79002231 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 79002231 79002231 C G SNP RFK ENST00000472900 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RFK HGNC ENSG00000135002 21 42 66.67 26 0 0.00 RFNG 5986 genome.wustl.edu 37 17 80008563 80008563 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 80008563 80008563 C T SNP RFNG ENST00000310496 human ensembl 70_37 -1 known missense c.394 p.D132N 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors RFNG HGNC ENSG00000169733 13 23 63.89 73 0 0.00 RFPL1S 10740 genome.wustl.edu 37 22 29833658 29833658 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 29833658 29833658 C T SNP RFPL1-AS1 ENST00000461286 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RFPL1-AS1 HGNC ENSG00000225465 36 31 46.27 71 0 0.00 RFPL1S 10740 genome.wustl.edu 37 22 29833943 29833943 + RNA DEL T T - TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 22 29833943 29833943 T - DEL RFPL1-AS1 ENST00000461286 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RFPL1-AS1 HGNC ENSG00000225465 6 3 33.33 10 0 0.00 RFPL2 10739 genome.wustl.edu 37 22 32586724 32586724 + RNA SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32586724 32586724 T G SNP RFPL2 ENST00000489846 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors RFPL2 HGNC ENSG00000128253 47 9 16.07 65 0 0.00 RFPL2 10739 genome.wustl.edu 37 22 32587262 32587262 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 32587262 32587262 G A SNP RFPL2 ENST00000400237 human ensembl 70_37 -1 known missense c.634 p.R212C 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 41 34 45.33 120 0 0.00 RFPL2 10739 genome.wustl.edu 37 22 32589259 32589259 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 32589259 32589259 C G SNP RFPL2 ENST00000248980 human ensembl 70_37 -1 known missense c.3 p.M1I 0.002 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 61 28 31.46 65 0 0.00 RFPL3 10738 genome.wustl.edu 37 22 32754152 32754152 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 32754152 32754152 G C SNP RFPL3 ENST00000249007 human ensembl 70_37 +1 known missense c.94 p.A32P 0.031 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 113 42 27.10 165 0 0.00 RFPL4A 342931 genome.wustl.edu 37 19 56273173 56273173 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56273173 56273173 G C SNP RFPL4A ENST00000434937 human ensembl 70_37 +1 novel missense c.7 p.E3Q 0.004 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4A HGNC ENSG00000223638 28 12 30.00 26 0 0.00 RFPL4B 442247 genome.wustl.edu 37 6 112671103 112671103 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 112671103 112671103 C A SNP RFPL4B ENST00000441065 human ensembl 70_37 +1 known missense c.193 p.Q65K 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 34 4 10.53 27 0 0.00 RFPL4B 442247 genome.wustl.edu 37 6 112671250 112671250 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 112671250 112671250 C G SNP RFPL4B ENST00000441065 human ensembl 70_37 +1 known missense c.340 p.L114V 0.010 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 11 7 38.89 28 0 0.00 RFT1 91869 genome.wustl.edu 37 3 53133448 53133448 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 53133448 53133448 C A SNP RFT1 ENST00000296292 human ensembl 70_37 -1 known missense c.1157 p.G386V 1.000 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 35 12 25.53 45 0 0.00 RFTN1 23180 genome.wustl.edu 37 3 16419401 16419401 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 16419401 16419401 C T SNP RFTN1 ENST00000334133 human ensembl 70_37 -1 known missense c.650 p.R217K 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 31 16 34.04 60 0 0.00 RFTN2 130132 genome.wustl.edu 37 2 198480650 198480650 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 198480650 198480650 G A SNP RFTN2 ENST00000295049 human ensembl 70_37 -1 known silent c.1104 p.F368 0.996 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 17 21 55.26 44 0 0.00 RFWD2 64326 genome.wustl.edu 37 1 175996801 175996801 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 175996801 175996801 C G SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known missense c.1636 p.D546H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 31 14 31.11 41 0 0.00 RFWD2 64326 genome.wustl.edu 37 1 175996812 175996812 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 175996812 175996812 G C SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known missense c.1625 p.S542C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 44 7 13.73 38 0 0.00 RFWD2 64326 genome.wustl.edu 37 1 176133017 176133017 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 176133017 176133017 G C SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known silent c.576 p.L192 0.993 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 18 6 25.00 44 0 0.00 RFWD3 55159 genome.wustl.edu 37 16 74685965 74685965 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 74685965 74685965 G T SNP RFWD3 ENST00000361070 human ensembl 70_37 -1 known missense c.574 p.P192T 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 21 3 12.50 28 0 0.00 RFX1 5989 genome.wustl.edu 37 19 14073659 14073659 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 14073659 14073659 C T SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known missense c.2788 p.E930K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 13 13 50.00 17 0 0.00 RFX1 5989 genome.wustl.edu 37 19 14073987 14073987 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 14073987 14073987 C T SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known missense c.2671 p.E891K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 35 8 18.60 52 0 0.00 RFX1 5989 genome.wustl.edu 37 19 14074708 14074708 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 19 14074708 14074708 G A SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known silent c.2323 p.L775 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 22 4 15.38 23 0 0.00 RFX2 5990 genome.wustl.edu 37 19 6042128 6042128 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 6042128 6042128 G A SNP RFX2 ENST00000303657 human ensembl 70_37 -1 known missense c.187 p.P63S 0.993 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 44 14 24.14 56 0 0.00 RFX2 5990 genome.wustl.edu 37 19 6047497 6047497 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 6047497 6047497 G T SNP RFX2 ENST00000303657 human ensembl 70_37 -1 known missense c.11 p.S4Y 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 30 4 11.76 40 0 0.00 RFX2 5990 genome.wustl.edu 37 19 6176278 6176278 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 6176278 6176278 C T SNP RFX2 ENST00000589712 human ensembl 70_37 -1 known rna NULL NULL 0.475 - - - no_errors RFX2 HGNC ENSG00000087903 15 8 34.78 20 0 0.00 RFX2 5990 genome.wustl.edu 37 19 6176353 6176353 + RNA SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 6176353 6176353 C A SNP RFX2 ENST00000585324 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RFX2 HGNC ENSG00000087903 23 10 30.30 41 0 0.00 RFX3 5991 genome.wustl.edu 37 9 3275524 3275524 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 3275524 3275524 C G SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.1062 p.Q354H 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 22 13 37.14 38 0 0.00 RFX3 5991 genome.wustl.edu 37 9 3275593 3275593 + Silent SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 3275593 3275593 T C SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known silent c.993 p.P331 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 18 4 18.18 29 0 0.00 RFX3 5991 genome.wustl.edu 37 9 3277378 3277378 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 3277378 3277378 G A SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.935 p.T312I 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 151 38 20.11 185 0 0.00 RFX3 5991 genome.wustl.edu 37 9 3277390 3277390 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 3277390 3277390 G C SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.923 p.S308C 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 152 31 16.94 177 0 0.00 RFX4 5992 genome.wustl.edu 37 12 107083095 107083095 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 107083095 107083095 C G SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known missense c.649 p.H217D 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 39 8 17.02 74 0 0.00 RFX4 5992 genome.wustl.edu 37 12 107109195 107109195 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 107109195 107109195 C G SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known missense c.1038 p.I346M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 34 23 40.35 44 0 0.00 RFX4 5992 genome.wustl.edu 37 12 107125951 107125951 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 107125951 107125951 C T SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known silent c.1422 p.L474 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 32 31 49.21 66 0 0.00 RFX4 5992 genome.wustl.edu 37 12 107126766 107126766 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 107126766 107126766 G A SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known silent c.1563 p.S521 0.036 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 13 12 48.00 13 0 0.00 RFX5 5993 genome.wustl.edu 37 1 151315475 151315475 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151315475 151315475 G T SNP RFX5 ENST00000290524 human ensembl 70_37 -1 known silent c.1038 p.V346 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 31 19 38.00 62 0 0.00 RFX5 5993 genome.wustl.edu 37 1 151316236 151316236 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 151316236 151316236 G A SNP RFX5 ENST00000290524 human ensembl 70_37 -1 known silent c.678 p.V226 0.255 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 10 3 23.08 15 0 0.00 RFX5 5993 genome.wustl.edu 37 1 151317606 151317606 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151317606 151317606 G A SNP RFX5 ENST00000290524 human ensembl 70_37 -1 known missense c.209 p.S70L 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 38 21 35.59 63 0 0.00 RFX6 222546 genome.wustl.edu 37 6 117199067 117199067 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 117199067 117199067 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.332 p.T111M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 45 7 13.46 62 0 0.00 RFX6 222546 genome.wustl.edu 37 6 117240424 117240424 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 117240424 117240424 C G SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.1147 p.L383V 0.988 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 8 21 72.41 56 0 0.00 RFX6 222546 genome.wustl.edu 37 6 117241490 117241490 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 117241490 117241490 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known silent c.1200 p.L400 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 54 13 19.40 64 0 0.00 RFX6 222546 genome.wustl.edu 37 6 117250102 117250102 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 117250102 117250102 C T SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.2579 p.S860L 0.486 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 32 6 15.79 46 0 0.00 RFX7 64864 genome.wustl.edu 37 15 56387634 56387634 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56387634 56387634 G T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known silent c.2292 p.V764 0.996 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 12 3 20.00 26 0 0.00 RFX7 64864 genome.wustl.edu 37 15 56387701 56387701 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 56387701 56387701 G A SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.2225 p.S742L 0.881 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 29 25 46.30 53 0 0.00 RFX7 64864 genome.wustl.edu 37 15 56394437 56394437 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 56394437 56394437 C T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.533 p.G178E 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 27 5 15.62 26 0 0.00 RFX7 64864 genome.wustl.edu 37 15 56435016 56435016 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 56435016 56435016 C T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.361 p.E121K 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 48 23 32.39 77 0 0.00 RFX8 731220 genome.wustl.edu 37 2 102034125 102034125 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 102034125 102034125 G T SNP RFX8 ENST00000376826 human ensembl 70_37 -1 known missense c.712 p.H238N 0.837 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC ENSG00000196460 25 4 13.79 50 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109695460 109695460 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 109695460 109695460 C G SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.1615 p.L539V 0.093 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 253 96 27.51 357 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109696047 109696047 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 109696047 109696047 G A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known silent c.2202 p.S734 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 19 10 34.48 59 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109696520 109696520 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 109696520 109696520 C A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.2675 p.P892Q 0.053 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 54 12 18.18 69 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109696640 109696640 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 109696640 109696640 C A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.2795 p.A932D 0.020 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 91 30 24.79 67 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109696778 109696778 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 X 109696778 109696778 C T SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.2933 p.P978L 0.112 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 264 92 25.77 342 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109696910 109696910 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 109696910 109696910 C T SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.3065 p.S1022F 0.086 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 25 8 24.24 17 0 0.00 RGAG1 57529 genome.wustl.edu 37 X 109697207 109697207 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 109697207 109697207 C T SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.3362 p.S1121L 0.036 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 24 7 22.58 20 0 0.00 RGAG4 340526 genome.wustl.edu 37 X 71349694 71349694 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 71349694 71349694 C T SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known missense c.1697 p.R566Q 0.107 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC ENSG00000242732 42 13 23.64 41 0 0.00 RGAG4 340526 genome.wustl.edu 37 X 71350359 71350359 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 71350359 71350359 G A SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known silent c.1032 p.Y344 0.828 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC ENSG00000242732 87 18 17.14 106 0 0.00 RGAG4 340526 genome.wustl.edu 37 X 71350409 71350409 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 71350409 71350409 G A SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known missense c.982 p.P328S 0.001 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC ENSG00000242732 64 30 31.91 72 0 0.00 RGCC 28984 genome.wustl.edu 37 13 42032533 42032533 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 42032533 42032533 G T SNP RGCC ENST00000379359 human ensembl 70_37 +1 known missense c.162 p.E54D 1.000 NULL NULL - no_errors RGCC HGNC ENSG00000102760 26 4 13.33 114 0 0.00 RGL1 23179 genome.wustl.edu 37 1 183861279 183861279 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 183861279 183861279 G A SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known missense c.1229 p.R410Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 53 17 23.94 54 0 0.00 RGL1 23179 genome.wustl.edu 37 1 183874076 183874076 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 183874076 183874076 G A SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known silent c.1548 p.Q516 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 98 72 42.35 146 0 0.00 RGL1 23179 genome.wustl.edu 37 1 183891454 183891454 + Silent SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 183891454 183891454 C G SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known silent c.2208 p.V736 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 29 16 35.56 30 0 0.00 RGL1 23179 genome.wustl.edu 37 1 183895267 183895268 + Frame_Shift_Ins INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 183895267 183895268 - T INS RGL1 ENST00000304685 human ensembl 70_37 +1 known frame_shift_ins c.2253_2254 p.Y752fs 1.000:1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 16 10 38.46 24 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33260080 33260080 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 33260080 33260080 G C SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.2133 p.I711M 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 34 15 30.61 59 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33261017 33261017 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 33261017 33261017 G C SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.1783 p.P595A 0.035 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 52 25 32.47 53 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33263121 33263121 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 33263121 33263121 G A SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.1099 p.R367W 0.984 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 84 25 22.94 61 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33263343 33263343 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 33263343 33263343 C T SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.962 p.R321Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 23 4 14.81 38 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33264531 33264531 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33264531 33264531 G C SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.263 p.S88C 0.994 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 64 26 28.89 120 0 0.00 RGL2 5863 genome.wustl.edu 37 6 33266252 33266252 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 33266252 33266252 C G SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 6 5 45.45 20 0 0.00 RGL3 57139 genome.wustl.edu 37 19 11529983 11529983 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11529983 11529983 C A SNP RGL3 ENST00000561570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RGL3 HGNC ENSG00000205517 8 4 33.33 14 0 0.00 RGL4 266747 genome.wustl.edu 37 22 24034903 24034903 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 24034903 24034903 G C SNP RGL4 ENST00000290691 human ensembl 70_37 +1 known missense c.421 p.E141Q 0.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 22 23 51.11 25 0 0.00 RGP1 9827 genome.wustl.edu 37 9 35749263 35749263 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 35749263 35749263 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 24 18 42.86 67 0 0.00 RGP1 9827 genome.wustl.edu 37 9 35749382 35749382 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 35749382 35749382 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known silent c.78 p.P26 0.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 124 59 32.24 214 0 0.00 RGP1 9827 genome.wustl.edu 37 9 35749827 35749827 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 35749827 35749827 C T SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known silent c.195 p.T65 0.280 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 72 25 25.77 126 0 0.00 RGP1 9827 genome.wustl.edu 37 9 35752745 35752745 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 35752745 35752745 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known nonsense c.1170 p.W390* 1.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 29 18 38.30 25 0 0.00 RGP1 9827 genome.wustl.edu 37 9 35752745 35752745 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 35752745 35752745 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known nonsense c.1170 p.W390* 1.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 56 37 39.78 25 0 0.00 RGPD2 729857 genome.wustl.edu 37 2 88071757 88071757 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 88071757 88071757 G A SNP RGPD2 ENST00000398146 human ensembl 70_37 -1 known missense c.5167 p.L1723F 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 39 17 30.36 42 0 0.00 RGPD2 729857 genome.wustl.edu 37 2 88082561 88082561 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 88082561 88082561 C G SNP RGPD2 ENST00000398146 human ensembl 70_37 -1 known missense c.3982 p.E1328Q 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 56 29 34.12 110 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107029640 107029640 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 107029640 107029640 G A SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known silent c.5166 p.F1722 1.000 pfam_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 155 155 50.00 310 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107032375 107032375 + Missense_Mutation SNP A A T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 2 107032375 107032375 A T SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.4995 p.S1665R 0.999 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 94 96 50.26 245 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107041079 107041079 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 107041079 107041079 G A SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.3344 p.T1115M 0.998 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 143 31 17.82 173 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107041359 107041359 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 107041359 107041359 C T SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.3064 p.E1022K 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 94 41 30.15 131 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107049624 107049624 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 107049624 107049624 C G SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.2323 p.E775Q 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 291 70 19.39 323 0 0.00 RGPD3 653489 genome.wustl.edu 37 2 107052631 107052631 + Missense_Mutation SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 107052631 107052631 T C SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.1706 p.H569R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 280 33 10.54 298 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108443522 108443522 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 108443522 108443522 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.53 p.S18Y 0.587 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 99 43 30.28 119 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108443524 108443524 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 108443524 108443524 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.55 p.A19T 0.521 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 100 29 22.31 186 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108478125 108478125 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 108478125 108478125 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2134 p.L712M 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 49 28 36.36 86 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108478127 108478127 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 108478127 108478127 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known silent c.2136 p.L712 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 66 28 29.47 150 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108479165 108479165 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 108479165 108479165 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2233 p.E745Q 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 26 3 10.34 51 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108479255 108479255 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 108479255 108479255 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2323 p.E775Q 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 28 17 37.78 42 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108487458 108487458 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 108487458 108487458 G T SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known nonsense c.2998 p.G1000* 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 65 67 50.76 125 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108487587 108487587 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 108487587 108487587 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.3127 p.Q1043K 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 186 80 30.08 257 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108487596 108487596 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 108487596 108487596 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.3136 p.E1046Q 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 353 50 12.38 359 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108489090 108489090 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 108489090 108489090 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.4630 p.E1544K 0.994 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 22 11 33.33 58 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108489230 108489230 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 108489230 108489230 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known silent c.4770 p.Q1590 0.985 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 282 127 30.98 499 0 0.00 RGPD4 285190 genome.wustl.edu 37 2 108489281 108489281 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 108489281 108489281 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.4821 p.N1607K 0.008 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 61 22 26.19 127 0 0.00 RGPD8 727851 genome.wustl.edu 37 2 113145814 113145814 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 113145814 113145814 C T SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.4708 p.G1570R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 12 10 45.45 14 0 0.00 RGPD8 727851 genome.wustl.edu 37 2 113146919 113146919 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 113146919 113146919 C G SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known silent c.3603 p.L1201 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 36 17 32.08 79 0 0.00 RGPD8 727851 genome.wustl.edu 37 2 113147110 113147110 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 113147110 113147110 C T SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.3412 p.D1138N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 109 20 15.50 222 0 0.00 RGPD8 727851 genome.wustl.edu 37 2 113147114 113147114 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113147114 113147114 G A SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known silent c.3408 p.F1136 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 393 56 12.47 456 0 0.00 RGPD8 727851 genome.wustl.edu 37 2 113157331 113157331 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113157331 113157331 C G SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.1933 p.E645Q 0.891 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 144 52 26.53 151 0 0.00 RGR 5995 genome.wustl.edu 37 10 86008021 86008021 + RNA SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 86008021 86008021 G T SNP RGR ENST00000483771 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors RGR HGNC ENSG00000148604 9 4 30.77 8 0 0.00 RGR 5995 genome.wustl.edu 37 10 86010161 86010161 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 10 86010161 86010161 C T SNP RGR ENST00000372092 human ensembl 70_37 +1 known missense c.341 p.S114F 0.002 NULL NULL - no_errors RGR HGNC ENSG00000148604 58 16 21.62 80 0 0.00 RGR 5995 genome.wustl.edu 37 10 86018409 86018409 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 86018409 86018409 G C SNP RGR ENST00000479725 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGR HGNC ENSG00000148604 23 19 45.24 20 0 0.00 RGR 5995 genome.wustl.edu 37 10 86018409 86018409 + RNA SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 10 86018409 86018409 G C SNP RGR ENST00000479725 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGR HGNC ENSG00000148604 32 11 25.58 48 0 0.00 RGS10 6001 genome.wustl.edu 37 10 121285616 121285617 + Frame_Shift_Ins INS - - T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 121285616 121285617 - T INS RGS10 ENST00000369103 human ensembl 70_37 -1 known frame_shift_ins c.183_182 p.E62fs 1.000:1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS10 HGNC ENSG00000148908 21 4 16.00 26 0 0.00 RGS10 6001 genome.wustl.edu 37 10 121295974 121295974 + Splice_Site SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 121295974 121295974 A G SNP RGS10 ENST00000392865 human ensembl 70_37 -1 known splice_site c.7+2 e1+2 1.000 - - - no_errors RGS10 HGNC ENSG00000148908 18 8 30.77 35 0 0.00 RGS11 8786 genome.wustl.edu 37 16 321285 321285 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 321285 321285 G T SNP RGS11 ENST00000397770 human ensembl 70_37 -1 known missense c.779 p.P260H 0.060 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS11 HGNC ENSG00000076344 10 3 23.08 17 0 0.00 RGS12 6002 genome.wustl.edu 37 4 3344302 3344302 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 3344302 3344302 C T SNP RGS12 ENST00000306648 human ensembl 70_37 +1 known silent c.72 p.L24 0.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC ENSG00000159788 11 11 50.00 16 0 0.00 RGS12 6002 genome.wustl.edu 37 4 3430419 3430419 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 3430419 3430419 T G SNP RGS12 ENST00000344733 human ensembl 70_37 +1 known missense c.3546 p.I1182M 1.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC ENSG00000159788 14 10 41.67 51 0 0.00 RGS13 6003 genome.wustl.edu 37 1 192614607 192614607 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 192614607 192614607 G A SNP RGS13 ENST00000482095 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RGS13 HGNC ENSG00000127074 30 32 51.61 35 0 0.00 RGS14 10636 genome.wustl.edu 37 5 176794490 176794490 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 176794490 176794490 G A SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.559 p.E187K 0.998 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC ENSG00000169220 9 13 59.09 27 0 0.00 RGS14 10636 genome.wustl.edu 37 5 176797663 176797663 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 176797663 176797663 C G SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.1125 p.F375L 1.000 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC ENSG00000169220 30 15 33.33 55 0 0.00 RGS14 10636 genome.wustl.edu 37 5 176798942 176798942 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 176798942 176798942 G C SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.1567 p.E523Q 1.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC ENSG00000169220 69 8 10.39 55 0 0.00 RGS17 26575 genome.wustl.edu 37 6 153332762 153332762 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 153332762 153332762 G C SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.580 p.Q194E 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC ENSG00000091844 25 10 28.57 55 0 0.00 RGS17 26575 genome.wustl.edu 37 6 153332806 153332806 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153332806 153332806 T C SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.536 p.Y179C 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC ENSG00000091844 4 4 50.00 21 0 0.00 RGS17 26575 genome.wustl.edu 37 6 153332811 153332811 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 153332811 153332811 C G SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.531 p.Q177H 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC ENSG00000091844 84 29 25.66 104 0 0.00 RGS18 64407 genome.wustl.edu 37 1 192127615 192127615 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 192127615 192127615 G A SNP RGS18 ENST00000481707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGS18 HGNC ENSG00000150681 23 6 20.69 19 0 0.00 RGS18 64407 genome.wustl.edu 37 1 192127819 192127819 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 192127819 192127819 G C SNP RGS18 ENST00000367460 human ensembl 70_37 +1 known missense c.52 p.E18Q 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS18 HGNC ENSG00000150681 11 23 67.65 25 0 0.00 RGS19 10287 genome.wustl.edu 37 20 62705529 62705529 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 20 62705529 62705529 C A SNP RGS19 ENST00000332298 human ensembl 70_37 -1 known nonsense c.430 p.E144* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS19 HGNC ENSG00000171700 30 4 11.76 35 0 0.00 RGS19 10287 genome.wustl.edu 37 20 62705602 62705602 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 62705602 62705602 G A SNP RGS19 ENST00000332298 human ensembl 70_37 -1 known silent c.357 p.F119 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS19 HGNC ENSG00000171700 16 6 27.27 19 0 0.00 RGS19 10287 genome.wustl.edu 37 20 62708283 62708283 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 62708283 62708283 C T SNP RGS19 ENST00000493165 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RGS19 HGNC ENSG00000171700 42 37 46.84 68 0 0.00 RGS2 5997 genome.wustl.edu 37 1 192778294 192778294 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 192778294 192778294 A C SNP RGS2 ENST00000235382 human ensembl 70_37 +1 known missense c.93 p.E31D 0.946 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS2 HGNC ENSG00000116741 36 11 23.40 55 0 0.00 RGS2 5997 genome.wustl.edu 37 1 192779519 192779519 + Nonsense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 192779519 192779519 C T SNP RGS2 ENST00000235382 human ensembl 70_37 +1 known nonsense c.232 p.Q78* 0.829 superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS2 HGNC ENSG00000116741 96 25 20.66 91 0 0.00 RGS20 8601 genome.wustl.edu 37 8 54870854 54870854 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 54870854 54870854 G C SNP RGS20 ENST00000297313 human ensembl 70_37 +1 known missense c.1003 p.E335Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS20 HGNC ENSG00000147509 17 9 34.62 44 0 0.00 RGS22 26166 genome.wustl.edu 37 8 100994308 100994308 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100994308 100994308 G A SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known nonsense c.3217 p.Q1073* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 81 20 19.61 37 0 0.00 RGS22 26166 genome.wustl.edu 37 8 101076270 101076270 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 101076270 101076270 C A SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known missense c.726 p.E242D 0.977 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 12 13 52.00 38 0 0.00 RGS22 26166 genome.wustl.edu 37 8 101078512 101078512 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 101078512 101078512 G C SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known missense c.607 p.Q203E 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 162 52 24.30 183 0 0.00 RGS22 26166 genome.wustl.edu 37 8 101084453 101084453 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 101084453 101084453 G C SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known silent c.345 p.L115 0.985 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 30 9 23.08 39 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116224348 116224348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116224348 116224348 G C SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.282 p.L94F 0.015 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 38 50 56.82 44 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116263868 116263868 + Missense_Mutation SNP C C A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 116263868 116263868 C A SNP RGS3 ENST00000343817 human ensembl 70_37 +1 known missense c.12 p.F4L 1.000 NULL pfam_Regulat_G_prot_signal,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 69 20 22.47 99 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116346022 116346022 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 116346022 116346022 C T SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.2330 p.S777L 0.003 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 222 74 25.00 356 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116346522 116346522 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 116346522 116346522 G A SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.2830 p.E944K 1.000 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 16 4 20.00 17 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116356554 116356554 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116356554 116356554 G C SNP RGS3 ENST00000462403 human ensembl 70_37 +1 known missense c.355 p.E119Q 0.970 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 11 17 60.71 13 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116356797 116356797 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116356797 116356797 G C SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3168 p.M1056I 1.000 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 14 17 54.84 18 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116357919 116357919 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 116357919 116357919 C A SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3285 p.F1095L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 49 11 18.33 108 0 0.00 RGS3 5998 genome.wustl.edu 37 9 116359190 116359190 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 116359190 116359190 A G SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3554 p.Y1185C 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 76 19 20.00 86 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163042594 163042594 + Splice_Site SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 163042594 163042594 G C SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known splice_site c.441-1 e4-1 1.000 - - - no_errors RGS4 HGNC ENSG00000117152 16 6 27.27 35 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163044242 163044242 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163044242 163044242 G T SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known missense c.801 p.K267N 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 47 31 39.74 120 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163044339 163044339 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 163044339 163044339 C T SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known nonsense c.898 p.Q300* 0.926 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 34 44 56.41 80 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163045609 163045609 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163045609 163045609 A C SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RGS4 HGNC ENSG00000117152 6 5 45.45 14 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163045932 163045932 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 163045932 163045932 G T SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RGS4 HGNC ENSG00000117152 19 23 54.76 44 0 0.00 RGS4 5999 genome.wustl.edu 37 1 163046287 163046287 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 163046287 163046287 C T SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RGS4 HGNC ENSG00000117152 39 10 20.41 26 0 0.00 RGS5 8490 genome.wustl.edu 37 1 163117208 163117208 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 163117208 163117208 C G SNP RGS5 ENST00000313961 human ensembl 70_37 -1 known missense c.470 p.R157T 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS5 HGNC ENSG00000143248 18 18 50.00 104 0 0.00 RGS5 8490 genome.wustl.edu 37 1 163187355 163187355 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163187355 163187355 A G SNP RGS5 ENST00000367903 human ensembl 70_37 -1 putative silent c.30 p.I10 0.001 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS5 HGNC ENSG00000143248 5 5 50.00 34 0 0.00 RGS6 9628 genome.wustl.edu 37 14 72818871 72818871 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 72818871 72818871 C T SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.153 p.S51 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 23 7 23.33 35 0 0.00 RGS6 9628 genome.wustl.edu 37 14 72945011 72945011 + Silent SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 72945011 72945011 T C SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.828 p.C276 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 43 27 38.57 63 0 0.00 RGS6 9628 genome.wustl.edu 37 14 73006802 73006802 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 73006802 73006802 G A SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.1422 p.V474 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 26 38 59.38 62 0 0.00 RGS7 6000 genome.wustl.edu 37 1 241032110 241032110 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 241032110 241032110 C T SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 15 6 28.57 22 0 0.00 RGS7 6000 genome.wustl.edu 37 1 241032132 241032132 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 241032132 241032132 C G SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known missense c.471 p.Q157H 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 20 17 45.95 38 0 0.00 RGS7 6000 genome.wustl.edu 37 1 241099999 241099999 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 241099999 241099999 C T SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known silent c.234 p.A78 0.310 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 33 11 25.00 36 0 0.00 RGS7BP 401190 genome.wustl.edu 37 5 63802466 63802466 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 63802466 63802466 G A SNP RGS7BP ENST00000334025 human ensembl 70_37 +1 known silent c.15 p.P5 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 31 5 13.51 33 0 0.00 RGS8 85397 genome.wustl.edu 37 1 182616020 182616020 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 182616020 182616020 C T SNP RGS8 ENST00000258302 human ensembl 70_37 -1 known silent c.447 p.T149 0.946 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS8 HGNC ENSG00000135824 53 25 32.05 99 0 0.00 RGS9 8787 genome.wustl.edu 37 17 63198172 63198172 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 63198172 63198172 C G SNP RGS9 ENST00000262406 human ensembl 70_37 +1 known silent c.1038 p.V346 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC ENSG00000108370 37 43 53.75 71 0 0.00 RGS9 8787 genome.wustl.edu 37 17 63204072 63204072 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 63204072 63204072 C G SNP RGS9 ENST00000262406 human ensembl 70_37 +1 known missense c.1236 p.I412M 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC ENSG00000108370 32 12 27.27 38 0 0.00 RGSL1 353299 genome.wustl.edu 37 1 182523782 182523782 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 182523782 182523782 C T SNP RGSL1 ENST00000294854 human ensembl 70_37 +1 known nonsense c.3151 p.Q1051* 0.001 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 56 13 18.84 65 0 0.00 RHAG 6005 genome.wustl.edu 37 6 49578773 49578773 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 49578773 49578773 G A SNP RHAG ENST00000371175 human ensembl 70_37 -1 known missense c.1031 p.A344V 0.830 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 55 20 26.67 56 0 0.00 RHAG 6005 genome.wustl.edu 37 6 49582479 49582479 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 49582479 49582479 G A SNP RHAG ENST00000371175 human ensembl 70_37 -1 known missense c.728 p.T243M 1.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 59 29 32.95 86 0 0.00 RHBDD1 84236 genome.wustl.edu 37 2 227773550 227773550 + Frame_Shift_Del DEL C C - TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 227773550 227773550 C - DEL RHBDD1 ENST00000341329 human ensembl 70_37 +1 known frame_shift_del c.668 p.S224fs 0.190 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 17 2 10.53 137 0 0.00 RHBDD2 57414 genome.wustl.edu 37 7 75510757 75510757 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 75510757 75510757 C T SNP RHBDD2 ENST00000466232 human ensembl 70_37 +1 putative rna NULL NULL 0.125 - - - no_errors RHBDD2 HGNC ENSG00000005486 31 19 38.00 33 0 0.00 RHBDD2 57414 genome.wustl.edu 37 7 75517728 75517728 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 75517728 75517728 G C SNP RHBDD2 ENST00000468304 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors RHBDD2 HGNC ENSG00000005486 17 8 32.00 37 0 0.00 RHBDF1 64285 genome.wustl.edu 37 16 109765 109765 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 109765 109765 G A SNP RHBDF1 ENST00000262316 human ensembl 70_37 -1 known silent c.1782 p.I594 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 29 15 34.09 34 0 0.00 RHBDF1 64285 genome.wustl.edu 37 16 114768 114768 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 114768 114768 G C SNP RHBDF1 ENST00000262316 human ensembl 70_37 -1 known missense c.177 p.I59M 0.016 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 92 35 27.56 182 0 0.00 RHBDF2 79651 genome.wustl.edu 37 17 74467961 74467961 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74467961 74467961 G A SNP RHBDF2 ENST00000313080 human ensembl 70_37 -1 known silent c.2325 p.F775 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 32 31 49.21 64 0 0.00 RHBDF2 79651 genome.wustl.edu 37 17 74475004 74475004 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 74475004 74475004 C A SNP RHBDF2 ENST00000313080 human ensembl 70_37 -1 known nonsense c.643 p.G215* 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 18 4 18.18 9 0 0.00 RHBDL2 54933 genome.wustl.edu 37 1 39361710 39361710 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 39361710 39361710 G C SNP RHBDL2 ENST00000372985 human ensembl 70_37 -1 known silent c.780 p.L260 0.986 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL2 HGNC ENSG00000158315 25 4 13.79 13 0 0.00 RHBDL2 54933 genome.wustl.edu 37 1 39384655 39384655 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 39384655 39384655 G C SNP RHBDL2 ENST00000372985 human ensembl 70_37 -1 known missense c.470 p.S157C 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL2 HGNC ENSG00000158315 51 14 21.54 53 0 0.00 RHBDL3 162494 genome.wustl.edu 37 17 30615838 30615838 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 30615838 30615838 C T SNP RHBDL3 ENST00000269051 human ensembl 70_37 +1 known missense c.322 p.R108C 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_HAND_2 - no_errors RHBDL3 HGNC ENSG00000141314 25 6 19.35 20 0 0.00 RHBG 57127 genome.wustl.edu 37 1 156354268 156354268 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 156354268 156354268 C T SNP RHBG ENST00000451864 human ensembl 70_37 +1 known missense c.1064 p.S355F 0.017 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 37 14 26.92 33 0 0.00 RHBG 57127 genome.wustl.edu 37 1 156354578 156354578 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 156354578 156354578 G A SNP RHBG ENST00000368246 human ensembl 70_37 +1 known missense c.1315 p.E439K 0.010 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 44 43 49.43 42 0 0.00 RHCE 6006 genome.wustl.edu 37 1 25715555 25715555 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 25715555 25715555 G T SNP RHCE ENST00000294413 human ensembl 70_37 -1 known nonsense c.851 p.S284* 0.002 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 104 26 20.00 112 0 0.00 RHCE 6006 genome.wustl.edu 37 1 25737867 25737867 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 25737867 25737867 G A SNP RHCE ENST00000374352 human ensembl 70_37 -1 known missense c.64 p.H22Y 0.002 superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 58 23 28.40 55 0 0.00 RHCG 51458 genome.wustl.edu 37 15 90016047 90016047 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 90016047 90016047 G T SNP RHCG ENST00000268122 human ensembl 70_37 -1 known missense c.1359 p.F453L 0.044 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 21 5 19.23 41 0 0.00 RHCG 51458 genome.wustl.edu 37 15 90016088 90016088 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 90016088 90016088 C G SNP RHCG ENST00000268122 human ensembl 70_37 -1 known missense c.1318 p.E440Q 0.016 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 43 18 29.51 34 0 0.00 RHD 6007 genome.wustl.edu 37 1 25599101 25599101 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25599101 25599101 A C SNP RHD ENST00000328664 human ensembl 70_37 +1 known missense c.63 p.E21D 0.002 pfam_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 66 11 14.29 130 0 0.00 RHD 6007 genome.wustl.edu 37 1 25633194 25633194 + Silent SNP T T A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 25633194 25633194 T A SNP RHD ENST00000328664 human ensembl 70_37 +1 known silent c.1047 p.L349 0.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 94 18 16.07 54 0 0.00 RHD 6007 genome.wustl.edu 37 1 25633204 25633204 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 25633204 25633204 G A SNP RHD ENST00000328664 human ensembl 70_37 +1 known missense c.1057 p.G353R 0.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 88 19 17.59 55 0 0.00 RHD 6007 genome.wustl.edu 37 1 25634165 25634165 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25634165 25634165 A C SNP RHD ENST00000342055 human ensembl 70_37 +1 putative missense c.1101 p.K367N 0.006 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 50 38 43.18 110 0 0.00 RHD 6007 genome.wustl.edu 37 1 25634201 25634201 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 25634201 25634201 G C SNP RHD ENST00000342055 human ensembl 70_37 +1 putative missense c.1137 p.L379F 0.005 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 68 22 24.44 118 0 0.00 RHEBL1 121268 genome.wustl.edu 37 12 49459141 49459141 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49459141 49459141 C G SNP RHEBL1 ENST00000301068 human ensembl 70_37 -1 known missense c.454 p.E152Q 0.995 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEBL1 HGNC ENSG00000167550 42 25 37.31 28 0 0.00 RHNO1 83695 genome.wustl.edu 37 12 2997539 2997539 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 2997539 2997539 G C SNP RHNO1 ENST00000489288 human ensembl 70_37 +1 known missense c.631 p.V211L 1.000 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 10 10 50.00 38 0 0.00 RHOA 387 genome.wustl.edu 37 3 49397643 49397643 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49397643 49397643 C T SNP RHOA ENST00000418115 human ensembl 70_37 -1 known silent c.581 p.*194 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 56 18 24.32 55 0 0.00 RHOA 387 genome.wustl.edu 37 3 49397710 49397710 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49397710 49397710 C G SNP RHOA ENST00000418115 human ensembl 70_37 -1 known missense c.514 p.E172Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 31 10 24.39 35 0 0.00 RHOA 387 genome.wustl.edu 37 3 49400019 49400019 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49400019 49400019 G C SNP RHOA ENST00000418115 human ensembl 70_37 -1 known missense c.318 p.F106L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 112 31 21.68 152 0 0.00 RHOA 387 genome.wustl.edu 37 3 49405880 49405880 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 49405880 49405880 G A SNP RHOA ENST00000418115 human ensembl 70_37 -1 known silent c.258 p.I86 0.859 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 27 31 53.45 29 0 0.00 RHOB 388 genome.wustl.edu 37 2 20647696 20647697 + Frame_Shift_Ins INS - - TG TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 20647696 20647697 - TG INS RHOB ENST00000272233 human ensembl 70_37 +1 known frame_shift_ins c.470_471 p.E158fs 1.000:1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 14 8 36.36 33 0 0.00 RHOB 388 genome.wustl.edu 37 2 20647697 20647697 + Silent SNP C C A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 20647697 20647697 C A SNP RHOB ENST00000272233 human ensembl 70_37 +1 known silent c.471 p.L157 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 14 8 36.36 33 0 0.00 RHOBTB1 9886 genome.wustl.edu 37 10 62632020 62632020 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 62632020 62632020 C T SNP RHOBTB1 ENST00000337910 human ensembl 70_37 -1 known nonsense c.1844 p.W615* 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 97 30 23.62 122 0 0.00 RHOBTB2 23221 genome.wustl.edu 37 8 22852085 22852085 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22852085 22852085 G A SNP RHOBTB2 ENST00000518534 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RHOBTB2 HGNC ENSG00000008853 33 10 23.26 20 0 0.00 RHOBTB2 23221 genome.wustl.edu 37 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 22862930 22862930 C T SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.238 p.L80 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 36 5 12.20 51 0 0.00 RHOBTB2 23221 genome.wustl.edu 37 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 22862930 22862930 C T SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.238 p.L80 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 48 6 11.11 40 0 0.00 RHOBTB2 23221 genome.wustl.edu 37 8 22865591 22865591 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 22865591 22865591 T C SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.1587 p.F529 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 23 5 17.86 43 0 0.00 RHOBTB3 22836 genome.wustl.edu 37 5 95067706 95067706 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 95067706 95067706 C T SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known missense c.146 p.T49M 0.999 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 23 4 14.81 22 0 0.00 RHOBTB3 22836 genome.wustl.edu 37 5 95067751 95067751 + Missense_Mutation SNP G G T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 95067751 95067751 G T SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known missense c.191 p.G64V 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 24 4 14.29 29 0 0.00 RHOBTB3 22836 genome.wustl.edu 37 5 95067758 95067758 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 95067758 95067758 C G SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known silent c.198 p.V66 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 16 7 30.43 43 0 0.00 RHOBTB3 22836 genome.wustl.edu 37 5 95067758 95067758 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 95067758 95067758 C G SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known silent c.198 p.V66 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 24 9 27.27 45 0 0.00 RHOBTB3 22836 genome.wustl.edu 37 5 95128826 95128826 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 95128826 95128826 C T SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known missense c.1784 p.A595V 0.998 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 41 22 34.92 65 0 0.00 RHOD 29984 genome.wustl.edu 37 11 66838947 66838947 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 66838947 66838947 C T SNP RHOD ENST00000308831 human ensembl 70_37 +1 known silent c.507 p.L169 0.759 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC ENSG00000173156 168 58 25.66 149 1 0.67 RHOD 29984 genome.wustl.edu 37 11 66838981 66838981 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 66838981 66838981 G A SNP RHOD ENST00000308831 human ensembl 70_37 +1 known missense c.541 p.A181T 0.012 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC ENSG00000173156 36 26 41.27 100 0 0.00 RHOG 391 genome.wustl.edu 37 11 3848823 3848823 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 3848823 3848823 G C SNP RHOG ENST00000351018 human ensembl 70_37 -1 known missense c.546 p.I182M 0.923 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOG HGNC ENSG00000177105 22 16 42.11 40 0 0.00 RHOH 399 genome.wustl.edu 37 4 40245542 40245542 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 40245542 40245542 G C SNP RHOH ENST00000381799 human ensembl 70_37 +1 known missense c.536 p.R179T 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOH HGNC ENSG00000168421 8 7 46.67 15 0 0.00 RHOJ 57381 genome.wustl.edu 37 14 63747800 63747800 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 63747800 63747800 C G SNP RHOJ ENST00000316754 human ensembl 70_37 +1 known missense c.349 p.P117A 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 101 12 10.62 147 0 0.00 RHOT1 55288 genome.wustl.edu 37 17 30520179 30520179 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 30520179 30520179 G A SNP RHOT1 ENST00000358365 human ensembl 70_37 +1 known missense c.664 p.A222T 1.000 pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 33 9 21.43 40 0 0.00 RHOT1 55288 genome.wustl.edu 37 17 30520242 30520242 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 30520242 30520242 G A SNP RHOT1 ENST00000358365 human ensembl 70_37 +1 known missense c.727 p.D243N 1.000 pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 86 33 27.50 86 0 0.00 RHOT2 89941 genome.wustl.edu 37 16 720883 720883 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 720883 720883 C T SNP RHOT2 ENST00000569943 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RHOT2 HGNC ENSG00000140983 104 45 30.20 150 0 0.00 RHOT2 89941 genome.wustl.edu 37 16 721776 721776 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 721776 721776 G A SNP RHOT2 ENST00000315082 human ensembl 70_37 +1 known missense c.949 p.D317N 1.000 pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2 - no_errors RHOT2 HGNC ENSG00000140983 42 17 28.81 74 0 0.00 RHOT2 89941 genome.wustl.edu 37 16 722267 722267 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 722267 722267 G C SNP RHOT2 ENST00000315082 human ensembl 70_37 +1 known missense c.1209 p.K403N 0.998 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_1 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2 - no_errors RHOT2 HGNC ENSG00000140983 55 10 15.38 94 0 0.00 RHOU 58480 genome.wustl.edu 37 1 228871693 228871693 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228871693 228871693 C T SNP RHOU ENST00000366691 human ensembl 70_37 +1 known silent c.204 p.S68 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 10 4 28.57 10 0 0.00 RHOU 58480 genome.wustl.edu 37 1 228871718 228871718 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 228871718 228871718 G A SNP RHOU ENST00000366691 human ensembl 70_37 +1 known missense c.229 p.E77K 0.999 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 35 9 20.00 29 0 0.00 RHOU 58480 genome.wustl.edu 37 1 228879058 228879058 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 228879058 228879058 C G SNP RHOU ENST00000366691 human ensembl 70_37 +1 known silent c.348 p.L116 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 35 30 46.15 42 0 0.00 RHOV 171177 genome.wustl.edu 37 15 41165482 41165482 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 41165482 41165482 C A SNP RHOV ENST00000220507 human ensembl 70_37 -1 known missense c.485 p.R162L 1.000 pfam_Small_GTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC ENSG00000104140 19 13 40.62 34 0 0.00 RHOV 171177 genome.wustl.edu 37 15 41165905 41165905 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 41165905 41165905 C G SNP RHOV ENST00000220507 human ensembl 70_37 -1 known missense c.244 p.E82Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC ENSG00000104140 67 32 32.32 148 0 0.00 RHOXF1 158800 genome.wustl.edu 37 X 119249758 119249758 + Silent SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119249758 119249758 G T SNP RHOXF1 ENST00000217999 human ensembl 70_37 -1 known silent c.15 p.L5 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 59 9 13.24 85 0 0.00 RHOXF1 158800 genome.wustl.edu 37 X 119249759 119249759 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 119249759 119249759 A G SNP RHOXF1 ENST00000217999 human ensembl 70_37 -1 known missense c.14 p.L5P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 58 9 13.43 81 0 0.00 RHPN1 114822 genome.wustl.edu 37 8 144458729 144458729 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 144458729 144458729 G A SNP RHPN1 ENST00000289013 human ensembl 70_37 +1 known missense c.211 p.A71T 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 60 18 23.08 116 1 0.85 RHPN1 114822 genome.wustl.edu 37 8 144460463 144460463 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 144460463 144460463 G A SNP RHPN1 ENST00000289013 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 60 14 18.92 51 0 0.00 RHPN1 114822 genome.wustl.edu 37 8 144463474 144463474 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 144463474 144463474 G A SNP RHPN1 ENST00000289013 human ensembl 70_37 +1 known missense c.1448 p.R483H 0.531 pfam_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 24 4 13.79 31 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33470790 33470790 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 33470790 33470790 G T SNP RHPN2 ENST00000588683 human ensembl 70_37 -1 putative rna NULL NULL 0.045 - - - no_errors RHPN2 HGNC ENSG00000131941 9 3 25.00 18 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33490562 33490562 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 33490562 33490562 G C SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.1155 p.L385 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 98 19 16.24 116 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33493247 33493247 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 33493247 33493247 G A SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.1011 p.I337 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 67 28 29.17 77 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33493743 33493743 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 33493743 33493743 C T SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.924 p.V308 0.994 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 76 95 55.56 100 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33502623 33502623 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 33502623 33502623 G A SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.555 p.F185 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 50 14 21.54 67 0 0.00 RHPN2 85415 genome.wustl.edu 37 19 33535269 33535269 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 33535269 33535269 C T SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known missense c.71 p.G24D 1.000 superfamily_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 35 4 10.26 47 0 0.00 RIBC1 158787 genome.wustl.edu 37 X 53457907 53457907 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 53457907 53457907 C T SNP RIBC1 ENST00000375327 human ensembl 70_37 +1 known missense c.1111 p.H371Y 0.003 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 56 14 20.00 72 0 0.00 RIBC2 26150 genome.wustl.edu 37 22 45810212 45810212 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 45810212 45810212 G A SNP RIBC2 ENST00000538017 human ensembl 70_37 +1 known missense c.124 p.E42K 0.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 176 24 11.94 328 0 0.00 RIBC2 26150 genome.wustl.edu 37 22 45813487 45813487 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 45813487 45813487 G A SNP RIBC2 ENST00000538017 human ensembl 70_37 +1 known missense c.202 p.E68K 0.999 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 13 10 43.48 13 0 0.00 RIC3 79608 genome.wustl.edu 37 11 8159966 8159967 + RNA INS - - A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 8159966 8159967 - A INS RIC3 ENST00000524799 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 30 5 14.29 22 0 0.00 RIC3 79608 genome.wustl.edu 37 11 8160038 8160039 + RNA INS - - A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 11 8160038 8160039 - A INS RIC3 ENST00000524799 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 13 3 18.75 18 0 0.00 RIC8A 60626 genome.wustl.edu 37 11 213324 213324 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 213324 213324 G T SNP RIC8A ENST00000325207 human ensembl 70_37 +1 known nonsense c.1399 p.E467* 1.000 pfam_Gua_nucleotide_exch_fac_Ric8 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 52 14 21.21 55 0 0.00 RIC8B 55188 genome.wustl.edu 37 12 107208551 107208551 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 107208551 107208551 C T SNP RIC8B ENST00000392837 human ensembl 70_37 +1 known silent c.210 p.L70 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 25 7 21.88 47 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38954960 38954960 + Silent SNP T T C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 38954960 38954960 T C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2613 p.L871 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 30 5 14.29 28 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38957799 38957799 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 38957799 38957799 C T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2454 p.L818 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 16 4 20.00 34 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38957801 38957801 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 38957801 38957801 G C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.2452 p.L818V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 106 27 20.30 137 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38957826 38957826 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 38957826 38957826 G A SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2427 p.L809 0.797 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 28 15 34.88 55 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38963010 38963010 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 38963010 38963010 G T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.1534 p.L512I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 19 11 36.67 47 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38963098 38963098 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 38963098 38963098 C T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.1446 p.M482I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 30 15 33.33 36 0 0.00 RICTOR 253260 genome.wustl.edu 37 5 38975684 38975684 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38975684 38975684 G C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.844 p.L282V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 28 10 26.32 55 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152266964 152266964 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 152266964 152266964 C T SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known silent c.27 p.L9 0.010 superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 46 27 36.99 76 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152273185 152273185 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 152273185 152273185 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.391 p.E131K 0.998 superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 45 21 31.82 71 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152285401 152285401 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 152285401 152285401 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known nonsense c.890 p.W297* 1.000 pfam_Rif1_N,superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 51 15 22.73 72 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152301883 152301883 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152301883 152301883 A C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.2018 p.E673A 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 13 3 18.75 39 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152316615 152316616 + Frame_Shift_Ins INS - - A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152316615 152316616 - A INS RIF1 ENST00000243326 human ensembl 70_37 +1 known frame_shift_ins c.3057_3058 p.M1019fs 0.455:0.405 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 38 7 15.56 30 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152316618 152316618 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 152316618 152316618 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.3060 p.M1020I 0.413 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 34 10 21.74 29 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152320916 152320916 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 152320916 152320916 G C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.4882 p.V1628L 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 15 3 16.67 18 0 0.00 RIF1 55183 genome.wustl.edu 37 2 152321064 152321064 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 152321064 152321064 G C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.5030 p.R1677T 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 22 12 35.29 13 0 0.00 RILP 83547 genome.wustl.edu 37 17 1551691 1551691 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 1551691 1551691 G C SNP RILP ENST00000301336 human ensembl 70_37 -1 known silent c.774 p.L258 1.000 pfam_RILP pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC ENSG00000167705 29 17 36.17 41 0 0.00 RILPL1 353116 genome.wustl.edu 37 12 123957223 123957223 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 123957223 123957223 G T SNP RILPL1 ENST00000376874 human ensembl 70_37 -1 known missense c.1074 p.S358R 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 60 10 14.29 62 0 0.00 RILPL1 353116 genome.wustl.edu 37 12 123983273 123983273 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 123983273 123983273 C G SNP RILPL1 ENST00000376874 human ensembl 70_37 -1 known missense c.619 p.D207H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 20 8 28.57 22 0 0.00 RILPL2 196383 genome.wustl.edu 37 12 123920680 123920680 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 123920680 123920680 G A SNP RILPL2 ENST00000280571 human ensembl 70_37 -1 known silent c.288 p.L96 0.000 NULL pfam_RILP - no_errors RILPL2 HGNC ENSG00000150977 18 28 60.87 48 0 0.00 RIMBP3 85376 genome.wustl.edu 37 22 20457501 20457501 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 20457501 20457501 C T SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known silent c.3801 p.P1267 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 58 7 10.77 40 0 0.00 RIMBP3 85376 genome.wustl.edu 37 22 20457737 20457737 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20457737 20457737 G A SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known missense c.3565 p.H1189Y 0.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 66 13 16.46 73 0 0.00 RIMBP3 85376 genome.wustl.edu 37 22 20457822 20457822 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 20457822 20457822 C T SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known silent c.3480 p.Q1160 1.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 198 48 19.51 144 0 0.00 RIMKLA 284716 genome.wustl.edu 37 1 42865153 42865153 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 42865153 42865153 C T SNP RIMKLA ENST00000431473 human ensembl 70_37 +1 known missense c.242 p.S81L 0.988 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 34 19 35.85 30 0 0.00 RIMKLB 57494 genome.wustl.edu 37 12 8906507 8906507 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 8906507 8906507 G C SNP RIMKLB ENST00000357529 human ensembl 70_37 +1 known missense c.515 p.R172P 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 95 25 20.83 86 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72678707 72678707 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 72678707 72678707 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.186 p.A62 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 32 20 38.46 56 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72678707 72678707 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 72678707 72678707 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.186 p.A62 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 19 8 29.63 43 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72889509 72889509 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 72889509 72889509 C T SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.703 p.P235S 0.066 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 35 8 18.60 47 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72892124 72892124 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 72892124 72892124 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.950 p.R317Q 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 14 8 36.36 24 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72922844 72922844 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 72922844 72922844 C T SNP RIMS1 ENST00000401910 human ensembl 70_37 +1 putative missense c.19 p.H7Y 0.049 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS1 HGNC ENSG00000079841 15 12 44.44 67 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72926938 72926938 + Nonsense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 72926938 72926938 C G SNP RIMS1 ENST00000517827 human ensembl 70_37 +1 putative nonsense c.47 p.S16* 0.995 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS1 HGNC ENSG00000079841 27 11 28.95 58 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72975693 72975693 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 72975693 72975693 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.3339 p.R1113 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 35 5 12.50 60 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72975721 72975721 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 72975721 72975721 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.3367 p.D1123N 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 15 6 28.57 61 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72984074 72984074 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 72984074 72984074 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.3421 p.D1141N 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 29 19 39.58 76 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 72984127 72984127 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 72984127 72984127 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.3474 p.E1158 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 62 11 15.07 39 0 0.00 RIMS1 22999 genome.wustl.edu 37 6 73110490 73110490 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 73110490 73110490 C T SNP RIMS1 ENST00000431478 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 6 6 50.00 18 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104513169 104513169 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 104513169 104513169 C G SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.55 p.Q19E 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 50 12 19.35 29 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104513213 104513213 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 104513213 104513213 G A SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.99 p.T33 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 34 42 55.26 49 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104513288 104513288 + Silent SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 104513288 104513288 C A SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.174 p.L58 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 14 33 70.21 17 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104780598 104780598 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 104780598 104780598 G A SNP RIMS2 ENST00000395361 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS2 HGNC ENSG00000176406 17 4 19.05 16 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104927785 104927785 + Missense_Mutation SNP A A C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 104927785 104927785 A C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.1875 p.K625N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 30 18 36.73 38 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104933999 104933999 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 104933999 104933999 C G SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known nonsense c.2183 p.S728* 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 119 80 40.20 150 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104973324 104973324 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 104973324 104973324 T C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.2733 p.S911 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 32 20 38.46 38 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 104973324 104973324 + Silent SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 104973324 104973324 T C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.2733 p.S911 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 70 19 21.35 124 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 105010465 105010465 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 105010465 105010465 C T SNP RIMS2 ENST00000436393 human ensembl 70_37 +1 novel missense c.2431 p.H811Y 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 28 16 36.36 48 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 105235920 105235920 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 105235920 105235920 G T SNP RIMS2 ENST00000339750 human ensembl 70_37 +1 known missense c.41 p.R14L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RIMS2 HGNC ENSG00000176406 87 24 21.62 88 0 0.00 RIMS2 9699 genome.wustl.edu 37 8 105260960 105260960 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 105260960 105260960 G A SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.3508 p.D1170N 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 93 23 19.83 150 0 0.00 RIMS4 140730 genome.wustl.edu 37 20 43386811 43386811 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 20 43386811 43386811 C T SNP RIMS4 ENST00000541604 human ensembl 70_37 -1 known missense c.254 p.G85E 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RIMS4 HGNC ENSG00000101098 20 17 45.95 55 0 0.00 RIMS4 140730 genome.wustl.edu 37 20 43438835 43438835 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 43438835 43438835 G A SNP RIMS4 ENST00000541604 human ensembl 70_37 -1 known silent c.78 p.S26 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RIMS4 HGNC ENSG00000101098 10 9 47.37 23 0 0.00 RIN1 9610 genome.wustl.edu 37 11 66099733 66099733 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66099733 66099733 C T SNP RIN1 ENST00000424433 human ensembl 70_37 -1 known missense c.1768 p.E590K 0.002 pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 76 22 22.22 77 0 0.00 RIN1 9610 genome.wustl.edu 37 11 66102954 66102954 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66102954 66102954 G A SNP RIN1 ENST00000311320 human ensembl 70_37 -1 known silent c.471 p.L157 0.987 pfscan_SH2 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 29 19 39.58 63 0 0.00 RIN2 54453 genome.wustl.edu 37 20 19870110 19870110 + RNA SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 19870110 19870110 G C SNP RIN2 ENST00000488077 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIN2 HGNC ENSG00000132669 27 7 20.00 29 0 0.00 RIN2 54453 genome.wustl.edu 37 20 19916187 19916187 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 19916187 19916187 G A SNP RIN2 ENST00000467569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RIN2 HGNC ENSG00000132669 61 11 15.28 29 0 0.00 RIN2 54453 genome.wustl.edu 37 20 19977442 19977442 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 20 19977442 19977442 C T SNP RIN2 ENST00000255006 human ensembl 70_37 +1 known missense c.2467 p.R823W 0.779 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 55 14 20.29 62 0 0.00 RIN2 54453 genome.wustl.edu 37 20 19982068 19982068 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 19982068 19982068 A C SNP RIN2 ENST00000484638 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIN2 HGNC ENSG00000132669 26 22 45.83 63 0 0.00 RIN3 79890 genome.wustl.edu 37 14 93118693 93118693 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93118693 93118693 C T SNP RIN3 ENST00000216487 human ensembl 70_37 +1 known silent c.1299 p.G433 0.046 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 21 5 19.23 33 0 0.00 RING1 6015 genome.wustl.edu 37 6 33180148 33180148 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 33180148 33180148 G A SNP RING1 ENST00000374656 human ensembl 70_37 +1 known missense c.1193 p.C398Y 0.965 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 62 14 18.42 56 0 0.00 RINL 126432 genome.wustl.edu 37 19 39361534 39361534 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39361534 39361534 C T SNP RINL ENST00000591812 human ensembl 70_37 -1 known missense c.700 p.E234K 0.038 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors RINL HGNC ENSG00000187994 49 31 38.75 92 0 0.00 RINT1 60561 genome.wustl.edu 37 7 105177056 105177056 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 105177056 105177056 G T SNP RINT1 ENST00000257700 human ensembl 70_37 +1 known nonsense c.133 p.E45* 0.001 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 36 4 10.00 52 0 0.00 RINT1 60561 genome.wustl.edu 37 7 105177177 105177177 + Missense_Mutation SNP A A C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 105177177 105177177 A C SNP RINT1 ENST00000257700 human ensembl 70_37 +1 known missense c.254 p.K85T 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 20 4 16.67 15 0 0.00 RINT1 60561 genome.wustl.edu 37 7 105177178 105177178 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 105177178 105177178 A T SNP RINT1 ENST00000257700 human ensembl 70_37 +1 known missense c.255 p.K85N 0.995 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 20 4 16.67 15 0 0.00 RIOK1 83732 genome.wustl.edu 37 6 7413155 7413155 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7413155 7413155 G C SNP RIOK1 ENST00000379834 human ensembl 70_37 +1 known missense c.1423 p.D475H 1.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 45 12 21.05 69 0 0.00 RIOK1 83732 genome.wustl.edu 37 6 7414492 7414492 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 7414492 7414492 C G SNP RIOK1 ENST00000379834 human ensembl 70_37 +1 known missense c.1465 p.Q489E 0.006 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 21 9 30.00 32 0 0.00 RIOK2 55781 genome.wustl.edu 37 5 96506914 96506914 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 96506914 96506914 C G SNP RIOK2 ENST00000283109 human ensembl 70_37 -1 known missense c.775 p.E259Q 1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 24 17 41.46 26 0 0.00 RIOK3 8780 genome.wustl.edu 37 18 21046196 21046196 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 21046196 21046196 C T SNP RIOK3 ENST00000339486 human ensembl 70_37 +1 known missense c.643 p.R215C 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 31 18 36.73 54 0 0.00 RIOK3 8780 genome.wustl.edu 37 18 21061177 21061177 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 21061177 21061177 G A SNP RIOK3 ENST00000339486 human ensembl 70_37 +1 known silent c.1494 p.K498 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 30 10 25.00 48 0 0.00 RIPK1 8737 genome.wustl.edu 37 6 3077045 3077045 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 3077045 3077045 C G SNP RIPK1 ENST00000490396 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RIPK1 HGNC ENSG00000137275 20 15 42.86 22 0 0.00 RIPK1 8737 genome.wustl.edu 37 6 3078028 3078028 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 3078028 3078028 C T SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known silent c.180 p.L60 0.991 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 18 20 52.63 57 0 0.00 RIPK1 8737 genome.wustl.edu 37 6 3081215 3081215 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 3081215 3081215 G C SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known missense c.324 p.M108I 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 65 36 35.64 63 0 0.00 RIPK1 8737 genome.wustl.edu 37 6 3106006 3106006 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 3106006 3106006 G A SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known missense c.1297 p.E433K 0.006 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 20 5 20.00 20 0 0.00 RIPK2 8767 genome.wustl.edu 37 8 90792331 90792331 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 90792331 90792331 G A SNP RIPK2 ENST00000220751 human ensembl 70_37 +1 known silent c.882 p.L294 0.998 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK2 HGNC ENSG00000104312 19 3 13.64 26 0 0.00 RIPK3 11035 genome.wustl.edu 37 14 24807137 24807137 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24807137 24807137 C T SNP RIPK3 ENST00000216274 human ensembl 70_37 -1 known silent c.774 p.L258 0.393 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 16 8 33.33 26 0 0.00 RIPK4 54101 genome.wustl.edu 37 21 43171267 43171267 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 43171267 43171267 C T SNP RIPK4 ENST00000352483 human ensembl 70_37 -1 known missense c.613 p.D205N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 35 15 30.00 69 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155870325 155870325 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155870325 155870325 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.514 p.D172N 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 75 15 16.67 76 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155874117 155874117 + Silent SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 155874117 155874117 G T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known silent c.414 p.L138 0.006 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 28 4 12.12 36 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155874261 155874261 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 37 14 27.45 53 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155874261 155874261 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 43 20 31.75 39 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155874548 155874548 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 155874548 155874548 G C SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.211 p.L71V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 39 16 29.09 49 0 0.00 RIT1 6016 genome.wustl.edu 37 1 155880451 155880451 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155880451 155880451 C G SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.102 p.K34N 0.910 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 38 14 26.92 33 0 0.00 RLBP1 6017 genome.wustl.edu 37 15 89760507 89760507 + Nonsense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 89760507 89760507 G A SNP RLBP1 ENST00000268125 human ensembl 70_37 -1 known nonsense c.190 p.R64* 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors RLBP1 HGNC ENSG00000140522 88 19 17.76 72 0 0.00 RLF 6018 genome.wustl.edu 37 1 40702077 40702077 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 40702077 40702077 G C SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.1703 p.R568T 0.999 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 14 7 33.33 27 0 0.00 RLF 6018 genome.wustl.edu 37 1 40704800 40704800 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40704800 40704800 T G SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.4426 p.L1476V 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 8 5 38.46 15 0 0.00 RLF 6018 genome.wustl.edu 37 1 40705038 40705038 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 40705038 40705038 G C SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.4664 p.G1555A 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 11 6 35.29 8 0 0.00 RLF 6018 genome.wustl.edu 37 1 40705375 40705375 + Silent SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 40705375 40705375 C A SNP RLF ENST00000372771 human ensembl 70_37 +1 known silent c.5001 p.L1667 0.326 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 21 3 12.50 25 0 0.00 RLF 6018 genome.wustl.edu 37 1 40705543 40705543 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 40705543 40705543 C G SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.5169 p.I1723M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 14 2 12.50 14 0 0.00 RLF 6018 genome.wustl.edu 37 1 40706021 40706021 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 40706021 40706021 C T SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.5647 p.R1883W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 64 29 31.18 85 0 0.00 RLIM 51132 genome.wustl.edu 37 X 73811719 73811719 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73811719 73811719 A C SNP RLIM ENST00000332687 human ensembl 70_37 -1 known silent c.1431 p.P477 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 130 29 18.24 159 0 0.00 RLIM 51132 genome.wustl.edu 37 X 73812025 73812025 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 73812025 73812025 C G SNP RLIM ENST00000332687 human ensembl 70_37 -1 known silent c.1125 p.V375 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 32 27 45.76 38 0 0.00 RLIM 51132 genome.wustl.edu 37 X 73812278 73812278 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73812278 73812278 G T SNP RLIM ENST00000332687 human ensembl 70_37 -1 known missense c.872 p.T291K 0.032 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 42 18 30.00 36 0 0.00 RLIM 51132 genome.wustl.edu 37 X 73812297 73812297 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73812297 73812297 G A SNP RLIM ENST00000332687 human ensembl 70_37 -1 known missense c.853 p.L285F 0.023 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 48 21 30.43 38 0 0.00 RLN1 6013 genome.wustl.edu 37 9 5335539 5335539 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 5335539 5335539 G C SNP RLN1 ENST00000223862 human ensembl 70_37 -1 known missense c.270 p.F90L 0.001 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 44 16 26.67 33 0 0.00 RLN2 6019 genome.wustl.edu 37 9 5300256 5300256 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 5300256 5300256 G A SNP RLN2 ENST00000381627 human ensembl 70_37 -1 known missense c.400 p.R134C 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 29 27 48.21 53 0 0.00 RLN3 117579 genome.wustl.edu 37 19 14141637 14141637 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14141637 14141637 G T SNP RLN3 ENST00000431365 human ensembl 70_37 +1 known missense c.306 p.R102S 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family - no_errors RLN3 HGNC ENSG00000171136 34 13 27.66 37 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67680824 67680824 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67680824 67680824 C T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.559 p.R187C 0.046 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 36 14 28.00 70 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67680869 67680869 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 16 67680869 67680869 G A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.604 p.G202S 0.918 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 56 18 24.32 52 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67683738 67683738 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 67683738 67683738 C T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.1949 p.S650F 0.998 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 13 12 48.00 26 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67685598 67685598 + Missense_Mutation SNP A A G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 67685598 67685598 A G SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.2438 p.Q813R 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 36 4 10.00 30 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67685860 67685860 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 67685860 67685860 G C SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.2625 p.E875D 0.994 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 52 16 23.53 80 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67688120 67688120 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67688120 67688120 C A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3189 p.F1063L 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 34 22 39.29 62 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67688566 67688566 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 67688566 67688566 G C SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3553 p.E1185Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 100 33 24.81 140 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67688786 67688786 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67688786 67688786 G A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3688 p.E1230K 0.972 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 59 36 37.89 100 0 0.00 RLTPR 146206 genome.wustl.edu 37 16 67688786 67688786 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 67688786 67688786 G T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known nonsense c.3688 p.E1230* 0.972 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 100 42 29.58 149 0 0.00 RMI1 80010 genome.wustl.edu 37 9 86617085 86617085 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 86617085 86617085 G C SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known missense c.1184 p.R395T 0.724 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 10 4 28.57 18 0 0.00 RMI1 80010 genome.wustl.edu 37 9 86617223 86617223 + Missense_Mutation SNP A A G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 86617223 86617223 A G SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known missense c.1322 p.K441R 0.019 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 16 5 23.81 32 0 0.00 RMI1 80010 genome.wustl.edu 37 9 86617752 86617752 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 86617752 86617752 G A SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known silent c.1851 p.E617 0.816 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 45 15 25.00 49 0 0.00 RMI2 116028 genome.wustl.edu 37 16 11410844 11410844 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11410844 11410844 G A SNP RMI2 ENST00000572992 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RMI2 HGNC ENSG00000175643 27 12 30.77 20 0 0.00 RMND1 55005 genome.wustl.edu 37 6 151766898 151766898 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 151766898 151766898 A G SNP RMND1 ENST00000367303 human ensembl 70_37 -1 known missense c.49 p.S17P 0.000 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 12 6 33.33 42 0 0.00 RMND5B 64777 genome.wustl.edu 37 5 177570673 177570673 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 177570673 177570673 G C SNP RMND5B ENST00000313386 human ensembl 70_37 +1 known missense c.472 p.E158Q 1.000 smart_CTLH_C,pfscan_CTLH_C smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 35 22 38.60 59 0 0.00 RMND5B 64777 genome.wustl.edu 37 5 177571073 177571073 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 177571073 177571073 C T SNP RMND5B ENST00000313386 human ensembl 70_37 +1 known missense c.658 p.R220W 0.992 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 29 62 67.39 118 0 0.00 RNA5-8SP2 100873571 genome.wustl.edu 37 16 33965549 33965549 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 33965549 33965549 C A SNP RNA5-8SP2 ENST00000363564 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP2 HGNC ENSG00000200434 50 15 23.08 119 0 0.00 RNA5SP174 0 genome.wustl.edu 37 4 190936378 190936379 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 190936378 190936379 - A INS RNA5SP174 ENST00000362702 human ensembl 70_37 +1 known rna NULL NULL 0.177:0.178 - - - no_errors RNA5SP174 HGNC ENSG00000199572 52 11 17.46 15 0 0.00 RNASE1 6035 genome.wustl.edu 37 14 21269764 21269764 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21269764 21269764 G C SNP RNASE1 ENST00000340900 human ensembl 70_37 -1 known missense c.464 p.S155C 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE1 HGNC ENSG00000129538 39 21 35.00 70 0 0.00 RNASE10 338879 genome.wustl.edu 37 14 20978826 20978826 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 20978826 20978826 G A SNP RNASE10 ENST00000328444 human ensembl 70_37 +1 known missense c.196 p.E66K 0.052 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 25 14 35.90 30 0 0.00 RNASE11 122651 genome.wustl.edu 37 14 21052552 21052552 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 21052552 21052552 C G SNP RNASE11 ENST00000335950 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.935 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 38 14 26.92 46 0 0.00 RNASE12 493901 genome.wustl.edu 37 14 21058829 21058829 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21058829 21058829 C T SNP RNASE12 ENST00000382999 human ensembl 70_37 -1 known silent c.54 p.V18 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE12 Uniprot_genename ENSG00000206171 16 19 54.29 62 0 0.00 RNASE13 440163 genome.wustl.edu 37 14 21502046 21502046 + Silent SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 21502046 21502046 G C SNP RNASE13 ENST00000382951 human ensembl 70_37 -1 known silent c.402 p.L134 0.952 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC ENSG00000206150 269 56 17.23 357 0 0.00 RNASE13 440163 genome.wustl.edu 37 14 21502283 21502283 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21502283 21502283 C A SNP RNASE13 ENST00000382951 human ensembl 70_37 -1 known silent c.165 p.L55 0.061 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC ENSG00000206150 59 16 21.33 63 0 0.00 RNASE6 6039 genome.wustl.edu 37 14 21250155 21250155 + Silent SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 21250155 21250155 C A SNP RNASE6 ENST00000304677 human ensembl 70_37 +1 known silent c.297 p.V99 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC ENSG00000169413 67 52 43.33 230 0 0.00 RNASE8 122665 genome.wustl.edu 37 14 21526193 21526193 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 21526193 21526193 C G SNP RNASE8 ENST00000308227 human ensembl 70_37 +1 known missense c.142 p.Q48E 0.001 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE8 HGNC ENSG00000173431 24 25 51.02 35 0 0.00 RNASE9 390443 genome.wustl.edu 37 14 21026810 21026810 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 21026810 21026810 C T SNP RNASE9 ENST00000555230 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.001 - - - no_errors RNASE9 HGNC ENSG00000188655 23 18 43.90 39 0 0.00 RNASEH1 246243 genome.wustl.edu 37 2 3595526 3595526 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 3595526 3595526 G A SNP RNASEH1 ENST00000315212 human ensembl 70_37 -1 known nonsense c.769 p.Q257* 0.992 pfam_RNaseH_domain,superfamily_RNaseH-like_dom,pirsf_RNase_H1_euk,pfscan_RNaseH_domain pfam_RNaseH_domain,pfam_RNase_H1_N,superfamily_RNaseH-like_dom,superfamily_Ribosomal_L9/RNase_H1_N,pirsf_RNase_H1_euk,pfscan_RNaseH_domain - no_errors RNASEH1 HGNC ENSG00000171865 38 5 11.63 36 0 0.00 RNASEH2C 84153 genome.wustl.edu 37 11 65487294 65487294 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 65487294 65487294 C G SNP RNASEH2C ENST00000527610 human ensembl 70_37 -1 putative silent c.690 p.A230 0.082 NULL pfam_RNase_H2_suC - no_errors RNASEH2C HGNC ENSG00000172922 29 6 17.14 29 0 0.00 RNASEL 6041 genome.wustl.edu 37 1 182555093 182555093 + Silent SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 1 182555093 182555093 G C SNP RNASEL ENST00000367559 human ensembl 70_37 -1 known silent c.849 p.L283 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 11 5 31.25 19 0 0.00 RNASEL 6041 genome.wustl.edu 37 1 182555233 182555233 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 182555233 182555233 C G SNP RNASEL ENST00000367559 human ensembl 70_37 -1 known missense c.709 p.E237Q 0.701 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 12 8 40.00 17 0 0.00 RNASET2 8635 genome.wustl.edu 37 6 167347552 167347552 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 167347552 167347552 G C SNP RNASET2 ENST00000509073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RNASET2 HGNC ENSG00000026297 45 14 23.73 59 0 0.00 RNASET2 8635 genome.wustl.edu 37 6 167347552 167347552 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 167347552 167347552 G C SNP RNASET2 ENST00000509073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RNASET2 HGNC ENSG00000026297 53 9 14.52 33 0 0.00 RNASET2 8635 genome.wustl.edu 37 6 167357213 167357213 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167357213 167357213 A C SNP RNASET2 ENST00000421787 human ensembl 70_37 -1 known missense c.346 p.L116V 0.000 NULL pfam_RNase_T2-like,superfamily_RNase_T2-like - no_errors RNASET2 HGNC ENSG00000026297 15 13 46.43 59 0 0.00 RND1 27289 genome.wustl.edu 37 12 49254855 49254855 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 49254855 49254855 C G SNP RND1 ENST00000309739 human ensembl 70_37 -1 known missense c.378 p.K126N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 10 7 41.18 27 0 0.00 RND2 8153 genome.wustl.edu 37 17 41177413 41177413 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 41177413 41177413 G C SNP RND2 ENST00000544533 human ensembl 70_37 +1 known missense c.49 p.E17Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 14 6 30.00 23 0 0.00 RND2 8153 genome.wustl.edu 37 17 41177998 41177998 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 41177998 41177998 G C SNP RND2 ENST00000544533 human ensembl 70_37 +1 known missense c.124 p.E42Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 66 49 42.61 69 0 0.00 RND2 8153 genome.wustl.edu 37 17 41178062 41178062 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41178062 41178062 C G SNP RND2 ENST00000544533 human ensembl 70_37 +1 known nonsense c.188 p.S63* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 79 32 28.83 71 0 0.00 RNF10 9921 genome.wustl.edu 37 12 121000862 121000862 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 121000862 121000862 C G SNP RNF10 ENST00000413266 human ensembl 70_37 +1 known missense c.1243 p.Q415E 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 67 19 22.09 62 0 0.00 RNF10 9921 genome.wustl.edu 37 12 121014518 121014518 + RNA SNP T T G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 12 121014518 121014518 T G SNP RNF10 ENST00000535470 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors RNF10 HGNC ENSG00000022840 21 25 54.35 44 0 0.00 RNF103 7844 genome.wustl.edu 37 2 86831217 86831217 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 86831217 86831217 C G SNP RNF103 ENST00000237455 human ensembl 70_37 -1 known missense c.1807 p.D603H 0.980 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 34 19 35.85 49 0 0.00 RNF103 7844 genome.wustl.edu 37 2 86831408 86831408 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 86831408 86831408 G A SNP RNF103 ENST00000237455 human ensembl 70_37 -1 known missense c.1616 p.S539L 0.999 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 12 10 45.45 37 0 0.00 RNF11 26994 genome.wustl.edu 37 1 51737136 51737136 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 51737136 51737136 G A SNP RNF11 ENST00000486691 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RNF11 HGNC ENSG00000123091 47 14 22.95 73 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59323793 59323793 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 59323793 59323793 G A SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 113 30 20.98 174 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59344533 59344533 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 59344533 59344533 G C SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.910 p.E304Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 55 16 22.22 93 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59373346 59373346 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 59373346 59373346 C G SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.2160 p.I720M 0.995 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 39 64 62.14 116 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59387098 59387098 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59387098 59387098 G C SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known nonstop c.3011 p.*1004S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 52 39 42.86 111 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59387291 59387292 + RNA INS - - T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 59387291 59387292 - T INS RNF111 ENST00000560080 human ensembl 70_37 +1 known rna NULL NULL 0.977:0.995 - - - no_errors RNF111 HGNC ENSG00000157450 76 28 26.92 94 0 0.00 RNF111 54778 genome.wustl.edu 37 15 59387334 59387335 + RNA INS - - T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 15 59387334 59387335 - T INS RNF111 ENST00000560080 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RNF111 HGNC ENSG00000157450 47 31 39.74 106 0 0.00 RNF112 7732 genome.wustl.edu 37 17 19316316 19316316 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19316316 19316316 C G SNP RNF112 ENST00000461366 human ensembl 70_37 +1 novel missense c.447 p.I149M 0.581 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 43 17 28.33 45 0 0.00 RNF112 7732 genome.wustl.edu 37 17 19318403 19318403 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19318403 19318403 G C SNP RNF112 ENST00000453070 human ensembl 70_37 +1 known silent c.828 p.L276 0.012 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 23 19 45.24 24 0 0.00 RNF112 7732 genome.wustl.edu 37 17 19318606 19318606 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 19318606 19318606 C G SNP RNF112 ENST00000461366 human ensembl 70_37 +1 novel nonsense c.1304 p.S435* 0.634 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 13 27 67.50 67 0 0.00 RNF113A 7737 genome.wustl.edu 37 X 119004829 119004829 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 119004829 119004829 C G SNP RNF113A ENST00000371442 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 37 20 35.09 54 0 0.00 RNF113A 7737 genome.wustl.edu 37 X 119005291 119005291 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 119005291 119005291 G C SNP RNF113A ENST00000371442 human ensembl 70_37 -1 known missense c.286 p.L96V 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 220 117 34.72 387 0 0.00 RNF114 55905 genome.wustl.edu 37 20 48553058 48553058 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 20 48553058 48553058 G C SNP RNF114 ENST00000244061 human ensembl 70_37 +1 known missense c.109 p.E37Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Di19_RING_finger_144,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF114 HGNC ENSG00000124226 12 5 29.41 13 0 0.00 RNF115 27246 genome.wustl.edu 37 1 145650536 145650536 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 145650536 145650536 C T SNP RNF115 ENST00000369291 human ensembl 70_37 +1 known missense c.215 p.A72V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF115 HGNC ENSG00000121848 91 15 14.02 107 0 0.00 RNF121 55298 genome.wustl.edu 37 11 71705867 71705867 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 71705867 71705867 G C SNP RNF121 ENST00000361756 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF121 HGNC ENSG00000137522 43 12 21.82 68 0 0.00 RNF123 63891 genome.wustl.edu 37 3 49751254 49751254 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49751254 49751254 G C SNP RNF123 ENST00000327697 human ensembl 70_37 +1 known missense c.2833 p.E945Q 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 32 14 30.43 38 0 0.00 RNF123 63891 genome.wustl.edu 37 3 49758728 49758728 + Nonsense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 49758728 49758728 C A SNP RNF123 ENST00000327697 human ensembl 70_37 +1 known nonsense c.3935 p.S1312* 0.997 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 229 30 11.54 277 1 0.36 RNF125 54941 genome.wustl.edu 37 18 29598847 29598847 + Silent SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 18 29598847 29598847 C A SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known silent c.21 p.T7 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 46 40 46.51 73 0 0.00 RNF125 54941 genome.wustl.edu 37 18 29617087 29617087 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 18 29617087 29617087 G A SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.173 p.R58H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 60 28 31.82 59 0 0.00 RNF125 54941 genome.wustl.edu 37 18 29617208 29617208 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 29617208 29617208 G C SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.294 p.K98N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 42 13 23.64 45 0 0.00 RNF125 54941 genome.wustl.edu 37 18 29622159 29622159 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 29622159 29622159 G T SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.336 p.M112I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 39 22 36.07 71 0 0.00 RNF125 54941 genome.wustl.edu 37 18 29645950 29645950 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 18 29645950 29645950 C G SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.590 p.T197S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 37 5 11.90 32 0 0.00 RNF125 54941 genome.wustl.edu 37 18 29648335 29648335 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 18 29648335 29648335 G A SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known silent c.687 p.S229 0.324 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 50 16 24.24 66 0 0.00 RNF126 55658 genome.wustl.edu 37 19 648229 648229 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 648229 648229 C A SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known missense c.835 p.A279S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 13 3 18.75 12 0 0.00 RNF126 55658 genome.wustl.edu 37 19 648250 648250 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 648250 648250 T A SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known missense c.814 p.S272C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 54 13 19.40 57 0 0.00 RNF126 55658 genome.wustl.edu 37 19 651748 651748 + Silent SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 651748 651748 A C SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known silent c.306 p.A102 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 27 6 18.18 33 0 0.00 RNF126P1 376412 genome.wustl.edu 37 17 55122996 55122996 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 55122996 55122996 T G SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors RNF126P1 HGNC ENSG00000261192 7 12 63.16 33 0 0.00 RNF126P1 376412 genome.wustl.edu 37 17 55123001 55123001 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55123001 55123001 G A SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors RNF126P1 HGNC ENSG00000261192 21 16 43.24 29 0 0.00 RNF126P1 376412 genome.wustl.edu 37 17 55123418 55123418 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 55123418 55123418 G A SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNF126P1 HGNC ENSG00000261192 131 42 24.28 149 0 0.00 RNF126P1 376412 genome.wustl.edu 37 17 55123547 55123547 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 55123547 55123547 C T SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors RNF126P1 HGNC ENSG00000261192 67 28 29.47 87 0 0.00 RNF126P1 376412 genome.wustl.edu 37 17 55123846 55123846 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 55123846 55123846 G C SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors RNF126P1 HGNC ENSG00000261192 9 12 57.14 16 0 0.00 RNF128 79589 genome.wustl.edu 37 X 105937389 105937389 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 X 105937389 105937389 G A SNP RNF128 ENST00000324342 human ensembl 70_37 +1 known missense c.157 p.V53I 0.981 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 81 28 25.69 87 0 0.00 RNF128 79589 genome.wustl.edu 37 X 105970452 105970452 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 105970452 105970452 G A SNP RNF128 ENST00000255499 human ensembl 70_37 +1 known silent c.309 p.T103 0.998 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 60 16 21.05 110 0 0.00 RNF128 79589 genome.wustl.edu 37 X 105970628 105970628 + Splice_Site SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 105970628 105970628 G A SNP RNF128 ENST00000255499 human ensembl 70_37 +1 known splice_site c.484+1 e1+1 1.000 - - - no_errors RNF128 HGNC ENSG00000133135 37 16 29.63 48 0 0.00 RNF130 55819 genome.wustl.edu 37 5 179440305 179440305 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 179440305 179440305 C G SNP RNF130 ENST00000521389 human ensembl 70_37 -1 known missense c.449 p.G150A 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF130 HGNC ENSG00000113269 13 6 31.58 26 0 0.00 RNF133 168433 genome.wustl.edu 37 7 122338231 122338231 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 122338231 122338231 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 34 22 39.29 43 0 0.00 RNF133 168433 genome.wustl.edu 37 7 122338409 122338409 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 122338409 122338409 A G SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known silent c.564 p.N188 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 31 16 34.04 17 0 0.00 RNF133 168433 genome.wustl.edu 37 7 122338412 122338412 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 122338412 122338412 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.561 p.M187I 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 22 9 29.03 19 0 0.00 RNF133 168433 genome.wustl.edu 37 7 122338779 122338779 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 122338779 122338779 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.194 p.S65N 0.999 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 15 8 34.78 44 0 0.00 RNF135 84282 genome.wustl.edu 37 17 29314963 29314963 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 29314963 29314963 C G SNP RNF135 ENST00000328381 human ensembl 70_37 +1 known missense c.518 p.A173G 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF135 HGNC ENSG00000181481 112 70 38.04 168 0 0.00 RNF139 11236 genome.wustl.edu 37 8 125499264 125499264 + Missense_Mutation SNP C C G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 8 125499264 125499264 C G SNP RNF139 ENST00000303545 human ensembl 70_37 +1 known missense c.1374 p.D458E 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 15 4 21.05 12 0 0.00 RNF14 9604 genome.wustl.edu 37 5 141359694 141359694 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 141359694 141359694 G C SNP RNF14 ENST00000347642 human ensembl 70_37 +1 known missense c.841 p.E281Q 1.000 NULL pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 157 51 24.52 229 0 0.00 RNF14 9604 genome.wustl.edu 37 5 141363115 141363115 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141363115 141363115 G C SNP RNF14 ENST00000347642 human ensembl 70_37 +1 known missense c.1234 p.E412Q 0.999 pfam_Znf_C6HC,smart_Znf_C6HC pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 24 11 30.56 29 0 0.00 RNF141 50862 genome.wustl.edu 37 11 10546848 10546848 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 10546848 10546848 C A SNP RNF141 ENST00000265981 human ensembl 70_37 -1 known missense c.325 p.D109Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF141 HGNC ENSG00000110315 35 4 10.26 36 0 0.00 RNF141 50862 genome.wustl.edu 37 11 10555624 10555624 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 10555624 10555624 G A SNP RNF141 ENST00000265981 human ensembl 70_37 -1 known nonsense c.82 p.R28* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF141 HGNC ENSG00000110315 31 23 42.59 104 0 0.00 RNF145 153830 genome.wustl.edu 37 5 158584523 158584523 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 158584523 158584523 G C SNP RNF145 ENST00000518284 human ensembl 70_37 -1 known rna NULL NULL 0.900 - - - no_errors RNF145 HGNC ENSG00000145860 29 10 25.64 24 0 0.00 RNF145 153830 genome.wustl.edu 37 5 158585861 158585861 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 158585861 158585861 G A SNP RNF145 ENST00000274542 human ensembl 70_37 -1 known silent c.1893 p.V631 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 73 30 29.13 123 0 0.00 RNF145 153830 genome.wustl.edu 37 5 158596779 158596779 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 158596779 158596779 G C SNP RNF145 ENST00000274542 human ensembl 70_37 -1 known missense c.930 p.F310L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 18 7 28.00 27 0 0.00 RNF145 153830 genome.wustl.edu 37 5 158630642 158630643 + Frame_Shift_Del DEL TT TT - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 158630642 158630643 TT - DEL RNF145 ENST00000274542 human ensembl 70_37 -1 known frame_shift_del c.68_67 p.K23fs 0.000:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 26 7 21.21 32 0 0.00 RNF146 81847 genome.wustl.edu 37 6 127608557 127608557 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 127608557 127608557 G C SNP RNF146 ENST00000368314 human ensembl 70_37 +1 known missense c.799 p.E267Q 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 28 7 19.44 52 0 0.00 RNF146 81847 genome.wustl.edu 37 6 127608657 127608657 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 127608657 127608657 C G SNP RNF146 ENST00000368314 human ensembl 70_37 +1 known missense c.899 p.S300C 0.970 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 4 4 44.44 22 0 0.00 RNF148 378925 genome.wustl.edu 37 7 122342331 122342331 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 122342331 122342331 C G SNP RNF148 ENST00000434824 human ensembl 70_37 -1 known silent c.474 p.L158 0.996 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 25 20 44.44 37 0 0.00 RNF149 284996 genome.wustl.edu 37 2 101905451 101905453 + In_Frame_Del DEL TAA TAA - TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 TAA TAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 101905451 101905453 TAA - DEL RNF149 ENST00000295317 human ensembl 70_37 -1 known in_frame_del c.847_845 p.I282in_frame_del 0.999:0.991:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 64 9 12.33 103 0 0.00 RNF149 284996 genome.wustl.edu 37 2 101911471 101911471 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 101911471 101911471 C A SNP RNF149 ENST00000295317 human ensembl 70_37 -1 known missense c.633 p.M211I 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 36 4 10.00 29 0 0.00 RNF149 284996 genome.wustl.edu 37 2 101924597 101924597 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 101924597 101924597 G A SNP RNF149 ENST00000295317 human ensembl 70_37 -1 known missense c.454 p.H152Y 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 10 2 16.67 9 0 0.00 RNF150 57484 genome.wustl.edu 37 4 142053952 142053952 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 4 142053952 142053952 G A SNP RNF150 ENST00000515673 human ensembl 70_37 -1 known missense c.11 p.S4F 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 39 11 22.00 71 0 0.00 RNF151 146310 genome.wustl.edu 37 16 2017754 2017754 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 2017754 2017754 G C SNP RNF151 ENST00000569714 human ensembl 70_37 +1 known missense c.178 p.E60Q 0.966 pfam_Ubox_domain pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF - no_errors RNF151 HGNC ENSG00000179580 11 3 21.43 11 0 0.00 RNF151 146310 genome.wustl.edu 37 16 2018792 2018792 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2018792 2018792 G A SNP RNF151 ENST00000569714 human ensembl 70_37 +1 known missense c.604 p.E202K 0.996 superfamily_TRAF-like pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF - no_errors RNF151 HGNC ENSG00000179580 23 15 39.47 48 0 0.00 RNF152 220441 genome.wustl.edu 37 18 59483144 59483144 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 59483144 59483144 T C SNP RNF152 ENST00000312828 human ensembl 70_37 -1 known missense c.553 p.I185V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 48 11 18.64 101 0 0.00 RNF152 220441 genome.wustl.edu 37 18 59560071 59560071 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 59560071 59560071 C T SNP RNF152 ENST00000588396 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RNF152 HGNC ENSG00000176641 31 4 11.11 26 0 0.00 RNF157 114804 genome.wustl.edu 37 17 74158697 74158697 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74158697 74158697 C T SNP RNF157 ENST00000269391 human ensembl 70_37 -1 known missense c.728 p.G243E 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 55 13 19.12 68 0 0.00 RNF157 114804 genome.wustl.edu 37 17 74158698 74158698 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 74158698 74158698 C A SNP RNF157 ENST00000269391 human ensembl 70_37 -1 known missense c.727 p.G243W 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 32 5 13.51 34 0 0.00 RNF157 114804 genome.wustl.edu 37 17 74163187 74163187 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74163187 74163187 C A SNP RNF157 ENST00000269391 human ensembl 70_37 -1 known missense c.464 p.S155I 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 13 10 43.48 28 0 0.00 RNF165 494470 genome.wustl.edu 37 18 43914264 43914264 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 18 43914264 43914264 C T SNP RNF165 ENST00000269439 human ensembl 70_37 +1 known silent c.27 p.L9 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 11 18 62.07 15 0 0.00 RNF167 26001 genome.wustl.edu 37 17 4844434 4844434 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4844434 4844434 G A SNP RNF167 ENST00000262482 human ensembl 70_37 +1 known silent c.147 p.L49 0.998 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 27 13 32.50 38 0 0.00 RNF168 165918 genome.wustl.edu 37 3 196198875 196198875 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 196198875 196198875 C G SNP RNF168 ENST00000318037 human ensembl 70_37 -1 known missense c.1531 p.E511Q 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 85 98 53.55 127 1 0.78 RNF168 165918 genome.wustl.edu 37 3 196210737 196210737 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196210737 196210737 G A SNP RNF168 ENST00000318037 human ensembl 70_37 -1 known missense c.584 p.S195L 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 51 25 32.89 46 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25338448 25338448 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 25338448 25338448 G A SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.107 p.G36E 0.539 pfscan_Znf_RING pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 31 14 31.11 68 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25378559 25378559 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25378559 25378559 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.2083 p.L695V 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 43 7 14.00 48 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25417973 25417973 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25417973 25417973 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.2695 p.P899A 0.005 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 81 19 19.00 91 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25442795 25442795 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 25442795 25442795 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4219 p.L1407V 0.993 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 46 29 38.67 54 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25444740 25444740 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 25444740 25444740 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4310 p.S1437C 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 43 5 10.42 45 0 0.00 RNF17 56163 genome.wustl.edu 37 13 25451154 25451154 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 25451154 25451154 C T SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4603 p.H1535Y 0.015 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 56 13 18.84 65 0 0.00 RNF180 285671 genome.wustl.edu 37 5 63496634 63496634 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 63496634 63496634 G C SNP RNF180 ENST00000389100 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors RNF180 HGNC ENSG00000164197 16 17 51.52 42 0 0.00 RNF180 285671 genome.wustl.edu 37 5 63621060 63621060 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 63621060 63621060 A G SNP RNF180 ENST00000389100 human ensembl 70_37 +1 known silent c.1275 p.E425 0.865 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 64 26 28.89 64 0 0.00 RNF185 91445 genome.wustl.edu 37 22 31592952 31592952 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 31592952 31592952 G C SNP RNF185 ENST00000326132 human ensembl 70_37 +1 known missense c.339 p.Q113H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF185 HGNC ENSG00000138942 35 21 37.50 42 0 0.00 RNF19A 25897 genome.wustl.edu 37 8 101270981 101270981 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 101270981 101270981 G C SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.2320 p.Q774E 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 104 22 17.46 51 0 0.00 RNF19A 25897 genome.wustl.edu 37 8 101273866 101273866 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 101273866 101273866 C T SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.1586 p.R529Q 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 71 27 27.55 129 1 0.77 RNF19A 25897 genome.wustl.edu 37 8 101300374 101300374 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 101300374 101300374 G C SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.29 p.S10C 0.177 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 31 5 13.89 28 0 0.00 RNF19B 127544 genome.wustl.edu 37 1 33409700 33409700 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 33409700 33409700 C T SNP RNF19B ENST00000373456 human ensembl 70_37 -1 known missense c.1325 p.R442H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 41 34 44.74 30 0 0.00 RNF19B 127544 genome.wustl.edu 37 1 33409700 33409700 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 33409700 33409700 C T SNP RNF19B ENST00000373456 human ensembl 70_37 -1 known missense c.1325 p.R442H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 52 42 44.68 73 0 0.00 RNF2 6045 genome.wustl.edu 37 1 185069364 185069364 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185069364 185069364 C T SNP RNF2 ENST00000367510 human ensembl 70_37 +1 known silent c.942 p.V314 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF2 HGNC ENSG00000121481 23 4 14.81 36 0 0.00 RNF20 56254 genome.wustl.edu 37 9 104312939 104312939 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 104312939 104312939 C T SNP RNF20 ENST00000389120 human ensembl 70_37 +1 known missense c.1144 p.R382C 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 55 26 32.10 60 0 0.00 RNF207 388591 genome.wustl.edu 37 1 6270935 6270935 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 6270935 6270935 G C SNP RNF207 ENST00000377939 human ensembl 70_37 +1 novel silent c.948 p.L316 1.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 39 30 43.48 51 0 0.00 RNF207 388591 genome.wustl.edu 37 1 6273207 6273207 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 6273207 6273207 G A SNP RNF207 ENST00000377939 human ensembl 70_37 +1 novel missense c.1616 p.R539H 1.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 37 5 11.90 31 0 0.00 RNF208 727800 genome.wustl.edu 37 9 140114971 140114971 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 140114971 140114971 C T SNP RNF208 ENST00000391553 human ensembl 70_37 -1 known missense c.694 p.E232K 0.996 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 7 4 36.36 13 0 0.00 RNF212 285498 genome.wustl.edu 37 4 1084614 1084614 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 1084614 1084614 G C SNP RNF212 ENST00000433731 human ensembl 70_37 -1 known missense c.259 p.Q87E 1.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 19 18 48.65 56 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78261737 78261737 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 78261737 78261737 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known nonsense c.385 p.Q129* 0.006 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 26 9 25.71 18 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78262101 78262101 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 78262101 78262101 G T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.749 p.S250I 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 24 3 11.11 35 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78269550 78269550 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 78269550 78269550 C G SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known nonsense c.1949 p.S650* 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 53 40 43.01 93 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78269596 78269596 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 78269596 78269596 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.1995 p.I665 0.021 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 33 25 43.10 62 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78280985 78280985 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 78280985 78280985 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.2485 p.D829H 0.210 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 26 28 51.85 41 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78317800 78317800 + Silent SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 78317800 78317800 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.6327 p.R2109 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 35 11 23.91 78 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78318498 78318498 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 78318498 78318498 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.6363 p.F2121 0.382 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 147 111 43.02 300 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78318661 78318661 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 78318661 78318661 C G SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.6526 p.Q2176E 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 48 32 40.00 88 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78318879 78318879 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78318879 78318879 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.6744 p.K2248N 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 19 12 38.71 29 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78319163 78319163 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78319163 78319163 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.7028 p.R2343T 0.003 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 28 15 34.88 42 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78320002 78320002 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 78320002 78320002 C G SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.7867 p.Q2623E 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 54 22 28.95 47 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78320023 78320023 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78320023 78320023 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.7888 p.E2630K 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 51 18 26.09 43 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78321462 78321462 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 78321462 78321462 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.9327 p.Y3109 0.721 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 21 8 27.59 26 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78326837 78326837 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 78326837 78326837 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.10401 p.F3467 0.479 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 43 5 10.42 55 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78328272 78328272 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 78328272 78328272 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.10758 p.L3586 0.221 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 83 17 17.00 130 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78328309 78328309 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 78328309 78328309 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.10795 p.H3599Y 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 49 23 31.94 40 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78332128 78332128 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 78332128 78332128 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.10903 p.L3635 0.940 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 76 35 31.53 145 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78336962 78336962 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 78336962 78336962 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.11416 p.E3806K 0.008 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 42 23 35.38 48 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78337555 78337555 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 78337555 78337555 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.11715 p.S3905 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 14 16 53.33 39 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78355466 78355466 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 78355466 78355466 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.13917 p.I4639 0.002 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 46 26 36.11 69 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78360057 78360057 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 78360057 78360057 C A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.14547 p.I4849 0.997 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 51 29 36.25 41 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78360193 78360193 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 78360193 78360193 G T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.14683 p.V4895F 0.055 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 34 5 12.82 23 0 0.00 RNF213 57674 genome.wustl.edu 37 17 78367415 78367415 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 78367415 78367415 G A SNP RNF213 ENST00000427003 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF213 HGNC ENSG00000173821 2 9 81.82 15 0 0.00 RNF214 257160 genome.wustl.edu 37 11 117109497 117109497 + Silent SNP A A C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 117109497 117109497 A C SNP RNF214 ENST00000300650 human ensembl 70_37 +1 known silent c.288 p.T96 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 134 21 13.55 198 0 0.00 RNF214 257160 genome.wustl.edu 37 11 117150913 117150913 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 117150913 117150913 G A SNP RNF214 ENST00000300650 human ensembl 70_37 +1 known silent c.1083 p.E361 0.998 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 69 41 37.27 155 0 0.00 RNF216 54476 genome.wustl.edu 37 7 5663694 5663694 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5663694 5663694 C T SNP RNF216 ENST00000389902 human ensembl 70_37 -1 known silent c.2445 p.K815 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 6 8 57.14 24 0 0.00 RNF216 54476 genome.wustl.edu 37 7 5779184 5779184 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5779184 5779184 G C SNP RNF216 ENST00000389900 human ensembl 70_37 -1 known silent c.942 p.L314 0.001 NULL NULL - no_errors RNF216 HGNC ENSG00000011275 14 7 33.33 21 0 0.00 RNF216 54476 genome.wustl.edu 37 7 5780712 5780712 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 5780712 5780712 A G SNP RNF216 ENST00000389902 human ensembl 70_37 -1 known silent c.936 p.G312 0.537 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 35 12 25.53 48 0 0.00 RNF216 54476 genome.wustl.edu 37 7 5800731 5800731 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5800731 5800731 G C SNP RNF216 ENST00000476345 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors RNF216 HGNC ENSG00000011275 49 30 37.97 55 0 0.00 RNF216P1 441191 genome.wustl.edu 37 7 5033260 5033260 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5033260 5033260 G A SNP RNF216P1 ENST00000471244 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors RNF216P1 HGNC ENSG00000196204 20 12 37.50 38 0 0.00 RNF216P1 441191 genome.wustl.edu 37 7 5033261 5033261 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5033261 5033261 G A SNP RNF216P1 ENST00000471244 human ensembl 70_37 +1 known rna NULL NULL 0.985 - - - no_errors RNF216P1 HGNC ENSG00000196204 20 12 37.50 36 0 0.00 RNF217 154214 genome.wustl.edu 37 6 125284221 125284221 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 125284221 125284221 C T SNP RNF217 ENST00000521654 human ensembl 70_37 +1 novel silent c.531 p.P177 0.001 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 36 10 21.74 29 0 0.00 RNF217 154214 genome.wustl.edu 37 6 125379248 125379248 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 125379248 125379248 G A SNP RNF217 ENST00000560949 human ensembl 70_37 +1 known missense c.572 p.C191Y 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 11 8 42.11 28 0 0.00 RNF217 154214 genome.wustl.edu 37 6 125404041 125404042 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 125404041 125404042 - A INS RNF217 ENST00000560949 human ensembl 70_37 +1 known frame_shift_ins c.882_883 p.Q296fs 1.000:1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 23 8 25.81 44 0 0.00 RNF219 79596 genome.wustl.edu 37 13 79189884 79189884 + Missense_Mutation SNP G G C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 13 79189884 79189884 G C SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known missense c.2012 p.S671C 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 114 53 31.74 235 0 0.00 RNF219 79596 genome.wustl.edu 37 13 79190472 79190472 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 13 79190472 79190472 G T SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known missense c.1424 p.A475D 0.999 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 28 4 12.50 17 0 0.00 RNF219 79596 genome.wustl.edu 37 13 79190810 79190810 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 79190810 79190810 A C SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known silent c.1086 p.T362 0.973 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 18 4 18.18 26 0 0.00 RNF219 79596 genome.wustl.edu 37 13 79190976 79190976 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 79190976 79190976 G T SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known missense c.920 p.S307Y 0.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 37 7 15.91 36 0 0.00 RNF220 55182 genome.wustl.edu 37 1 44877992 44877992 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 44877992 44877992 C T SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.223 p.R75W 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 61 15 19.74 118 0 0.00 RNF220 55182 genome.wustl.edu 37 1 44878382 44878382 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 44878382 44878382 C G SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.613 p.R205G 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 37 23 38.33 53 0 0.00 RNF220 55182 genome.wustl.edu 37 1 45115222 45115222 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 45115222 45115222 G C SNP RNF220 ENST00000474956 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RNF220 HGNC ENSG00000187147 33 5 13.16 37 0 0.00 RNF220 55182 genome.wustl.edu 37 1 45115372 45115372 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 45115372 45115372 G C SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known silent c.1485 p.L495 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 30 10 25.00 63 0 0.00 RNF220 55182 genome.wustl.edu 37 1 45115398 45115398 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 45115398 45115398 G A SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.1511 p.R504Q 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 172 27 13.57 138 0 0.00 RNF26 79102 genome.wustl.edu 37 11 119206814 119206814 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 11 119206814 119206814 C T SNP RNF26 ENST00000311413 human ensembl 70_37 +1 known missense c.982 p.L328F 0.000 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 31 16 34.04 48 0 0.00 RNF26 79102 genome.wustl.edu 37 11 119207071 119207071 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119207071 119207071 C T SNP RNF26 ENST00000311413 human ensembl 70_37 +1 known silent c.1239 p.V413 0.985 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 149 59 28.37 223 0 0.00 RNF26 79102 genome.wustl.edu 37 11 119207121 119207121 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119207121 119207121 A C SNP RNF26 ENST00000311413 human ensembl 70_37 +1 known missense c.1289 p.N430T 1.000 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 21 4 16.00 46 0 0.00 RNF31 55072 genome.wustl.edu 37 14 24619469 24619469 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 14 24619469 24619469 G A SNP RNF31 ENST00000324103 human ensembl 70_37 +1 known missense c.1009 p.E337K 0.187 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 56 22 28.21 71 0 0.00 RNF31 55072 genome.wustl.edu 37 14 24626844 24626844 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 24626844 24626844 G C SNP RNF31 ENST00000324103 human ensembl 70_37 +1 known missense c.2724 p.K908N 1.000 smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 33 9 21.43 50 0 0.00 RNF32 140545 genome.wustl.edu 37 7 156468504 156468504 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 156468504 156468504 G C SNP RNF32 ENST00000317955 human ensembl 70_37 +1 known missense c.799 p.E267Q 0.047 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 80 15 15.79 146 0 0.00 RNF32 140545 genome.wustl.edu 37 7 156468519 156468519 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 156468519 156468519 G A SNP RNF32 ENST00000317955 human ensembl 70_37 +1 known missense c.814 p.E272K 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 73 14 16.09 137 0 0.00 RNF39 80352 genome.wustl.edu 37 6 30043421 30043421 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 30043421 30043421 G A SNP RNF39 ENST00000244360 human ensembl 70_37 -1 known missense c.146 p.A49V 0.020 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 11 3 21.43 22 0 0.00 RNF39 80352 genome.wustl.edu 37 6 30043424 30043424 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 30043424 30043424 G C SNP RNF39 ENST00000244360 human ensembl 70_37 -1 known missense c.143 p.S48C 0.002 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 45 5 10.00 39 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30776605 30776605 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 30776605 30776605 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.875 p.R292Q 0.998 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 72 25 25.77 126 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30777520 30777520 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30777520 30777520 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1030 p.E344Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 29 28 49.12 41 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30778082 30778082 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30778082 30778082 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known silent c.1314 p.Q438 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 32 18 36.00 40 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30778146 30778146 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30778146 30778146 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1378 p.E460K 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 42 32 43.24 62 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30779455 30779455 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30779455 30779455 C G SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1583 p.S528C 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 36 18 33.33 35 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30779514 30779514 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 30779514 30779514 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1642 p.E548Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 107 13 10.83 116 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30779554 30779554 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30779554 30779554 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1682 p.R561T 0.534 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 39 17 30.36 54 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30780684 30780684 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30780684 30780684 G T SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known nonsense c.2425 p.E809* 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 65 11 14.47 46 0 0.00 RNF40 9810 genome.wustl.edu 37 16 30783259 30783259 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30783259 30783259 C G SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.2692 p.R898G 0.996 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 60 18 23.08 71 0 0.00 RNF41 10193 genome.wustl.edu 37 12 56600311 56600311 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56600311 56600311 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.874 p.E292K 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 21 10 32.26 32 0 0.00 RNF41 10193 genome.wustl.edu 37 12 56600398 56600398 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56600398 56600398 C G SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 44 31 41.33 56 0 0.00 RNF41 10193 genome.wustl.edu 37 12 56601988 56601988 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56601988 56601988 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.457 p.E153K 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 43 32 42.67 86 0 0.00 RNF41 10193 genome.wustl.edu 37 12 56602063 56602063 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56602063 56602063 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.382 p.E128K 1.000 superfamily_TRAF-like,pfscan_Znf_SIAH pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 39 9 18.75 45 0 0.00 RNF43 54894 genome.wustl.edu 37 17 56434537 56434537 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 56434537 56434537 G A SNP RNF43 ENST00000581868 human ensembl 70_37 -1 putative missense c.2219 p.S740L 0.027 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 11 13 54.17 30 0 0.00 RNF43 54894 genome.wustl.edu 37 17 56435253 56435253 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 56435253 56435253 G A SNP RNF43 ENST00000407977 human ensembl 70_37 -1 known silent c.1884 p.D628 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 57 49 46.23 46 0 0.00 RNF43 54894 genome.wustl.edu 37 17 56435412 56435412 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 56435412 56435412 G A SNP RNF43 ENST00000407977 human ensembl 70_37 -1 known silent c.1725 p.V575 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 92 24 20.69 119 0 0.00 RNF44 22838 genome.wustl.edu 37 5 175956299 175956299 + Frame_Shift_Del DEL T T - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 175956299 175956299 T - DEL RNF44 ENST00000274811 human ensembl 70_37 -1 known frame_shift_del c.1226 p.K409fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 16 6 27.27 38 0 0.00 RNF5 6048 genome.wustl.edu 37 6 32148026 32148026 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 32148026 32148026 C T SNP RNF5 ENST00000375094 human ensembl 70_37 +1 known missense c.466 p.H156Y 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 16 9 36.00 37 0 0.00 RNF6 6049 genome.wustl.edu 37 13 26788558 26788558 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 26788558 26788558 G A SNP RNF6 ENST00000346166 human ensembl 70_37 -1 known silent c.1461 p.I487 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 103 31 23.13 146 0 0.00 RNF6 6049 genome.wustl.edu 37 13 26789310 26789310 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 26789310 26789310 T G SNP RNF6 ENST00000346166 human ensembl 70_37 -1 known missense c.709 p.N237H 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 33 22 40.00 89 0 0.00 RNF8 9025 genome.wustl.edu 37 6 37321864 37321864 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 37321864 37321864 G A SNP RNF8 ENST00000479516 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF8 HGNC ENSG00000112130 10 6 37.50 26 0 0.00 RNGTT 8732 genome.wustl.edu 37 6 89322520 89322520 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 89322520 89322520 C G SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.1712 p.G571A 0.997 superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 102 19 15.70 61 0 0.00 RNGTT 8732 genome.wustl.edu 37 6 89563357 89563357 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 89563357 89563357 G A SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known silent c.1023 p.L341 0.500 pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 14 5 26.32 34 0 0.00 RNGTT 8732 genome.wustl.edu 37 6 89614556 89614556 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 89614556 89614556 G C SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.562 p.L188V 0.045 pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 29 21 42.00 21 0 0.00 RNGTT 8732 genome.wustl.edu 37 6 89616098 89616098 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89616098 89616098 C A SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.429 p.E143D 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 15 3 16.67 42 0 0.00 RNH1 6050 genome.wustl.edu 37 11 494945 494945 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 494945 494945 G A SNP RNH1 ENST00000354420 human ensembl 70_37 -1 known silent c.1236 p.D412 0.003 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 70 17 19.54 101 0 0.00 RNMT 8731 genome.wustl.edu 37 18 13731616 13731616 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 13731616 13731616 G C SNP RNMT ENST00000262173 human ensembl 70_37 +1 known missense c.100 p.E34Q 0.958 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 189 39 17.11 268 0 0.00 RNMT 8731 genome.wustl.edu 37 18 13731787 13731787 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 13731787 13731787 G C SNP RNMT ENST00000262173 human ensembl 70_37 +1 known missense c.271 p.E91Q 0.986 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 17 11 39.29 17 0 0.00 RNMTL1 55178 genome.wustl.edu 37 17 685696 685696 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 685696 685696 G C SNP RNMTL1 ENST00000304478 human ensembl 70_37 +1 known silent c.78 p.A26 0.220 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 91 65 41.67 124 0 0.00 RNMTL1 55178 genome.wustl.edu 37 17 695084 695084 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 695084 695084 G T SNP RNMTL1 ENST00000304478 human ensembl 70_37 +1 known missense c.1038 p.W346C 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 31 15 32.61 93 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104068792 104068792 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 104068792 104068792 C T SNP RNPC3 ENST00000423855 human ensembl 70_37 +1 known silent c.100 p.L34 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 47 14 22.58 84 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104076466 104076467 + Frame_Shift_Ins INS - - A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 104076466 104076467 - A INS RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_ins c.346_347 p.K120fs 0.748:0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 20 4 16.67 28 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 14 3 17.65 17 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 29 5 14.71 33 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104085920 104085920 + Splice_Site SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 104085920 104085920 G T SNP RNPC3 ENST00000524631 human ensembl 70_37 +1 novel splice_site c.894-1 e9-1 0.715 - - - no_errors RNPC3 HGNC ENSG00000185946 11 3 21.43 23 0 0.00 RNPC3 55599 genome.wustl.edu 37 1 104086054 104086054 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 104086054 104086054 G A SNP RNPC3 ENST00000423855 human ensembl 70_37 +1 known missense c.1030 p.E344K 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 31 5 13.89 27 0 0.00 RNPEP 6051 genome.wustl.edu 37 1 201966484 201966484 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 201966484 201966484 G C SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.892 p.G298R 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 32 12 27.27 55 0 0.00 RNPEP 6051 genome.wustl.edu 37 1 201970518 201970518 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 201970518 201970518 G A SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.1219 p.D407N 0.931 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 42 31 42.47 50 0 0.00 RNPEP 6051 genome.wustl.edu 37 1 201970888 201970888 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201970888 201970888 C A SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known silent c.1419 p.I473 0.994 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 11 18 62.07 25 0 0.00 RNPEP 6051 genome.wustl.edu 37 1 201973512 201973512 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 201973512 201973512 C G SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.1682 p.P561R 0.956 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 23 15 39.47 32 0 0.00 RNPEPL1 57140 genome.wustl.edu 37 2 241513702 241513702 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 241513702 241513702 G A SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 35 10 22.22 44 0 0.00 RNPEPL1 57140 genome.wustl.edu 37 2 241514236 241514236 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 241514236 241514236 G A SNP RNPEPL1 ENST00000464550 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RNPEPL1 HGNC ENSG00000142327 7 4 36.36 9 0 0.00 RNPEPL1 57140 genome.wustl.edu 37 2 241516041 241516041 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 241516041 241516041 G C SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.907 p.E303Q 1.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 13 28 68.29 91 0 0.00 RNPEPL1 57140 genome.wustl.edu 37 2 241517259 241517259 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 241517259 241517259 G A SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.1435 p.E479K 0.815 NULL pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 52 8 13.33 64 0 0.00 RNU1-2 26870 genome.wustl.edu 37 1 17222572 17222572 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 17222572 17222572 C T SNP RNU1-2 ENST00000384278 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RNU1-2 HGNC ENSG00000207005 29 13 30.95 22 0 0.00 RNU6-26 100873741 genome.wustl.edu 37 19 1021614 1021614 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 1021614 1021614 C T SNP RNU6-26 ENST00000384627 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNU6-26 HGNC ENSG00000207357 17 14 45.16 29 0 0.00 RNU6V 6071 genome.wustl.edu 37 1 110134211 110134211 + RNA DEL A A - TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 1 110134211 110134211 A - DEL RNU6V ENST00000384105 human ensembl 70_37 -1 known rna NULL NULL 0.851 - - - no_errors RNU6V HGNC ENSG00000206832 6 8 57.14 17 0 0.00 RNU7-22P 100147770 genome.wustl.edu 37 10 32462672 32462673 + RNA INS - - AAAT TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 32462672 32462673 - AAAT INS RNU7-22P ENST00000516673 human ensembl 70_37 +1 known rna NULL NULL 0.025:0.047 - - - no_errors RNU7-22P HGNC ENSG00000252482 30 9 23.08 9 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78649291 78649291 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 78649291 78649291 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.4913 p.R1638T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 9 36 80.00 81 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78663894 78663894 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 78663894 78663894 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.4339 p.D1447H 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 29 14 32.56 38 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78666904 78666904 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 78666904 78666904 G C SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.4163 p.S1388C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 18 19 51.35 50 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78676546 78676546 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 78676546 78676546 G T SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.3800 p.P1267Q 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 29 4 12.12 34 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78680360 78680360 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 78680360 78680360 G C SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.3577 p.P1193A 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 91 64 41.29 135 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78706263 78706263 + Nonsense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 78706263 78706263 G A SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known nonsense c.2599 p.Q867* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 34 22 39.29 50 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78734954 78734954 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 78734954 78734954 G A SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known silent c.1284 p.C428 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 15 15 50.00 55 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78735011 78735011 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 78735011 78735011 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.1227 p.Q409H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 42 22 34.38 48 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78987932 78987932 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 78987932 78987932 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.318 p.E106D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 2 40 95.24 62 0 0.00 ROBO1 6091 genome.wustl.edu 37 3 78987932 78987932 + Missense_Mutation SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 78987932 78987932 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.318 p.E106D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 3 26 89.66 26 0 0.00 ROBO2 6092 genome.wustl.edu 37 3 77147203 77147203 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 3 77147203 77147203 G T SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known missense c.100 p.V34L 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 24 7 22.58 21 0 0.00 ROBO2 6092 genome.wustl.edu 37 3 77611801 77611801 + Splice_Site SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 77611801 77611801 G C SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known splice_site c.1438-1 e10-1 1.000 - - - no_errors ROBO2 HGNC ENSG00000185008 89 12 11.88 92 0 0.00 ROBO2 6092 genome.wustl.edu 37 3 77623803 77623803 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 77623803 77623803 G C SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known missense c.2125 p.E709Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 76 23 23.23 118 0 0.00 ROBO2 6092 genome.wustl.edu 37 3 77671452 77671452 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 77671452 77671452 C G SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known missense c.3629 p.S1210C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 32 24 42.86 69 0 0.00 ROBO3 64221 genome.wustl.edu 37 11 124739926 124739926 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 124739926 124739926 G A SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.728 p.G243E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC ENSG00000154134 64 16 20.00 63 0 0.00 ROBO3 64221 genome.wustl.edu 37 11 124740508 124740508 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 124740508 124740508 G A SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.917 p.R306Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC ENSG00000154134 43 7 13.46 72 0 0.00 ROBO3 64221 genome.wustl.edu 37 11 124743605 124743605 + Missense_Mutation SNP T T C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 124743605 124743605 T C SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.1631 p.V544A 0.012 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC ENSG00000154134 48 9 15.79 51 0 0.00 ROBO3 64221 genome.wustl.edu 37 11 124747913 124747913 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 124747913 124747913 G T SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.3067 p.D1023Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC ENSG00000154134 5 3 37.50 25 0 0.00 ROBO4 54538 genome.wustl.edu 37 11 124761385 124761385 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124761385 124761385 G C SNP ROBO4 ENST00000306534 human ensembl 70_37 -1 known missense c.1758 p.I586M 0.912 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ENSG00000154133 49 8 14.04 63 0 0.00 ROCK1 6093 genome.wustl.edu 37 18 18534772 18534772 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 18534772 18534772 C T SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known silent c.3825 p.K1275 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 77 14 15.38 66 0 0.00 ROCK1 6093 genome.wustl.edu 37 18 18539802 18539802 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 18539802 18539802 C G SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known missense c.3511 p.D1171H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 29 18 38.30 49 0 0.00 ROCK1 6093 genome.wustl.edu 37 18 18562727 18562727 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 18 18562727 18562727 G A SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known silent c.2556 p.F852 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 70 28 28.57 154 0 0.00 ROCK1 6093 genome.wustl.edu 37 18 18571173 18571173 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 18571173 18571173 G C SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known missense c.2107 p.Q703E 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 32 23 41.82 92 0 0.00 ROCK1 6093 genome.wustl.edu 37 18 18586468 18586468 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 18586468 18586468 G A SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known nonsense c.1729 p.Q577* 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 117 38 24.52 97 0 0.00 ROCK1P1 727758 genome.wustl.edu 37 18 112533 112533 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 112533 112533 C G SNP ROCK1P1 ENST00000576266 human ensembl 70_37 +1 known rna NULL NULL 0.774 - - - no_errors ROCK1P1 HGNC ENSG00000263006 19 5 20.83 10 0 0.00 ROCK2 9475 genome.wustl.edu 37 2 11332586 11332586 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 11332586 11332586 G A SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.3940 p.P1314S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 87 10 10.31 107 0 0.00 ROCK2 9475 genome.wustl.edu 37 2 11337678 11337678 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 11337678 11337678 G C SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.3253 p.Q1085E 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 23 6 20.69 13 0 0.00 ROCK2 9475 genome.wustl.edu 37 2 11341440 11341440 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 11341440 11341440 C T SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.2719 p.E907K 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 57 12 17.39 55 0 0.00 ROCK2 9475 genome.wustl.edu 37 2 11356289 11356289 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 11356289 11356289 C G SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.1456 p.E486Q 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ENSG00000134318 28 19 40.43 62 0 0.00 ROMO1 140823 genome.wustl.edu 37 20 34287611 34287611 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34287611 34287611 C T SNP ROMO1 ENST00000336695 human ensembl 70_37 +1 known silent c.57 p.V19 1.000 pfam_Romo1 pfam_Romo1 - no_errors ROMO1 HGNC ENSG00000125995 261 80 23.46 402 0 0.00 ROPN1 54763 genome.wustl.edu 37 3 123699316 123699316 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 123699316 123699316 C T SNP ROPN1 ENST00000184183 human ensembl 70_37 -1 known missense c.13 p.D5N 0.981 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC ENSG00000065371 19 3 13.64 37 0 0.00 ROPN1B 152015 genome.wustl.edu 37 3 125694413 125694413 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 125694413 125694413 G A SNP ROPN1B ENST00000251776 human ensembl 70_37 +1 known missense c.124 p.E42K 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 78 52 39.69 111 0 0.00 ROPN1B 152015 genome.wustl.edu 37 3 125702118 125702118 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 125702118 125702118 C G SNP ROPN1B ENST00000251776 human ensembl 70_37 +1 known missense c.594 p.I198M 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 54 40 42.55 95 0 0.00 ROR1 4919 genome.wustl.edu 37 1 64644127 64644127 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 64644127 64644127 G C SNP ROR1 ENST00000371079 human ensembl 70_37 +1 known missense c.2403 p.Q801H 1.000 pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR1 HGNC ENSG00000185483 46 27 36.99 73 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94486597 94486597 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 94486597 94486597 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.2179 p.E727K 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 25 3 10.71 27 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94488984 94488984 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 9 94488984 94488984 C A SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.1225 p.V409F 1.000 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 20 27 57.45 49 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94493270 94493270 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 94493270 94493270 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.1105 p.G369R 0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Kringle pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 21 38 64.41 95 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94495419 94495419 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 94495419 94495419 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.922 p.E308K 0.999 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 17 21 55.26 29 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94495419 94495419 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 94495419 94495419 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.922 p.E308K 0.999 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 5 11 68.75 14 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94495547 94495547 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 94495547 94495547 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.794 p.R265H 1.000 pfam_Frizzled_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 68 10 12.82 81 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94519831 94519831 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 94519831 94519831 C G SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known silent c.186 p.L62 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 28 5 15.15 29 0 0.00 ROR2 4920 genome.wustl.edu 37 9 94538029 94538029 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 94538029 94538029 G A SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known silent c.169 p.L57 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 18 18 50.00 66 0 0.00 RORA 6095 genome.wustl.edu 37 15 60803653 60803653 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 60803653 60803653 C T SNP RORA ENST00000261523 human ensembl 70_37 -1 known missense c.691 p.D231N 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 50 29 36.71 134 0 0.00 RORA 6095 genome.wustl.edu 37 15 60803666 60803666 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 60803666 60803666 C T SNP RORA ENST00000261523 human ensembl 70_37 -1 known silent c.678 p.L226 0.940 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 100 13 11.50 100 0 0.00 RORA 6095 genome.wustl.edu 37 15 61468389 61468389 + RNA SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 15 61468389 61468389 A G SNP RORA ENST00000558904 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RORA HGNC ENSG00000069667 36 13 26.53 22 0 0.00 RORC 6097 genome.wustl.edu 37 1 151780038 151780038 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151780038 151780038 G C SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1629 p.L543 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC ENSG00000143365 43 24 35.82 63 0 0.00 RORC 6097 genome.wustl.edu 37 1 151783893 151783893 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 151783893 151783893 C G SNP RORC ENST00000392697 human ensembl 70_37 -1 known missense c.1465 p.E489Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC ENSG00000143365 26 5 16.13 43 0 0.00 RORC 6097 genome.wustl.edu 37 1 151783995 151783995 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151783995 151783995 C T SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RORC HGNC ENSG00000143365 11 6 35.29 15 0 0.00 RORC 6097 genome.wustl.edu 37 1 151785499 151785499 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151785499 151785499 G A SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1371 p.F457 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC ENSG00000143365 31 17 35.42 71 0 0.00 RORC 6097 genome.wustl.edu 37 1 151785517 151785517 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 151785517 151785517 G A SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1353 p.I451 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC ENSG00000143365 79 19 19.39 71 0 0.00 RORC 6097 genome.wustl.edu 37 1 151785550 151785550 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 151785550 151785550 G A SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RORC HGNC ENSG00000143365 42 18 30.00 70 0 0.00 RORC 6097 genome.wustl.edu 37 1 151785700 151785700 + RNA SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151785700 151785700 C G SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors RORC HGNC ENSG00000143365 35 5 12.50 27 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117622176 117622176 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 117622176 117622176 C A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known nonsense c.6694 p.E2232* 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 31 10 24.39 35 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117622181 117622181 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 117622181 117622181 C G SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.6689 p.R2230T 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 30 8 21.05 32 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117642486 117642486 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 117642486 117642486 C G SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.5713 p.E1905Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 27 5 15.62 51 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117650503 117650503 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 117650503 117650503 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known silent c.5355 p.I1785 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 42 13 23.64 74 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117658469 117658469 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 117658469 117658469 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.5114 p.S1705L 0.822 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 17 10 37.04 63 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117662663 117662663 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 117662663 117662663 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.4802 p.A1601V 0.027 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 77 21 21.43 126 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117710546 117710546 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 6 117710546 117710546 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known nonsense c.1726 p.Q576* 0.748 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 23 4 14.81 30 0 0.00 ROS1 6098 genome.wustl.edu 37 6 117710731 117710731 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 117710731 117710731 C A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.1541 p.G514V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 15 3 16.67 20 0 0.00 RP1 6101 genome.wustl.edu 37 8 55533806 55533806 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 55533806 55533806 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.280 p.R94C 0.000 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 24 15 38.46 43 0 0.00 RP1 6101 genome.wustl.edu 37 8 55534096 55534096 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 55534096 55534096 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known silent c.570 p.V190 0.368 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 39 10 20.41 62 0 0.00 RP1 6101 genome.wustl.edu 37 8 55537806 55537806 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 55537806 55537806 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.1364 p.R455T 0.998 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 14 10 41.67 24 0 0.00 RP1 6101 genome.wustl.edu 37 8 55538851 55538851 + Silent SNP T T A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 55538851 55538851 T A SNP RP1 ENST00000220676 human ensembl 70_37 +1 known silent c.2409 p.P803 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 19 6 24.00 19 0 0.00 RP1 6101 genome.wustl.edu 37 8 55538983 55538983 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 55538983 55538983 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2541 p.L847F 0.895 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 66 17 20.48 80 0 0.00 RP1 6101 genome.wustl.edu 37 8 55539114 55539114 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 55539114 55539114 G T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2672 p.R891M 0.080 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 39 5 11.36 57 0 0.00 RP1 6101 genome.wustl.edu 37 8 55539381 55539381 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 55539381 55539381 G T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2939 p.G980V 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 24 4 14.29 32 0 0.00 RP1 6101 genome.wustl.edu 37 8 55540312 55540312 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 55540312 55540312 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.3870 p.Q1290H 0.969 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 217 38 14.90 164 1 0.61 RP1 6101 genome.wustl.edu 37 8 55541492 55541492 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 55541492 55541492 G A SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.5050 p.E1684K 0.049 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 27 7 20.59 31 0 0.00 RP1 6101 genome.wustl.edu 37 8 55542413 55542413 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 55542413 55542413 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known nonsense c.5971 p.Q1991* 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 19 8 29.63 23 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10465315 10465315 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 10465315 10465315 G A SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.6293 p.S2098L 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 85 60 41.38 73 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10466019 10466019 + Silent SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 10466019 10466019 A T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.5589 p.A1863 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 24 10 28.57 20 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10466144 10466144 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 10466144 10466144 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.5464 p.G1822S 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 46 30 39.47 77 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10466630 10466630 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 10466630 10466630 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.4978 p.E1660K 0.502 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 41 34 45.33 149 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10466721 10466721 + Silent SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 10466721 10466721 G C SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.4887 p.L1629 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 26 35 57.38 45 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10469371 10469371 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 10469371 10469371 G A SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.2237 p.S746L 0.040 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 29 20 40.82 34 0 0.00 RP1L1 94137 genome.wustl.edu 37 8 10480214 10480214 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 10480214 10480214 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.498 p.Q166 0.180 superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 199 48 19.43 295 0 0.00 RP2 6102 genome.wustl.edu 37 X 46719528 46719528 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 46719528 46719528 C A SNP RP2 ENST00000218340 human ensembl 70_37 +1 known missense c.874 p.L292M 0.921 superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 88 13 12.87 90 0 0.00 RP9 6100 genome.wustl.edu 37 7 33136969 33136969 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 33136969 33136969 G T SNP RP9 ENST00000297157 human ensembl 70_37 -1 known missense c.319 p.R107S 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 22 8 26.67 32 0 0.00 RPA1 6117 genome.wustl.edu 37 17 1756397 1756397 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1756397 1756397 G C SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known missense c.275 p.R92T 1.000 pfam_Rep_factor-A_N,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 39 12 23.53 33 0 0.00 RPA1 6117 genome.wustl.edu 37 17 1782335 1782335 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 1782335 1782335 C G SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known missense c.739 p.P247A 0.995 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 27 13 32.50 70 0 0.00 RPA1 6117 genome.wustl.edu 37 17 1798302 1798302 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1798302 1798302 G A SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known splice_site c.1660-1 e16-1 1.000 - - - no_errors RPA1 HGNC ENSG00000132383 16 34 68.00 110 1 0.89 RPA1 6117 genome.wustl.edu 37 17 1798346 1798346 + Missense_Mutation SNP G G T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 17 1798346 1798346 G T SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known missense c.1703 p.R568L 0.874 pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 52 18 25.71 65 0 0.00 RPA2 6118 genome.wustl.edu 37 1 28240755 28240755 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 28240755 28240755 C T SNP RPA2 ENST00000313433 human ensembl 70_37 -1 known missense c.200 p.R67Q 0.001 NULL pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors RPA2 HGNC ENSG00000117748 25 25 50.00 49 0 0.00 RPA4 29935 genome.wustl.edu 37 X 96139472 96139472 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139472 96139472 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.163 p.L55F 0.081 superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 51 27 34.62 98 0 0.00 RPA4 29935 genome.wustl.edu 37 X 96139479 96139479 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139479 96139479 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.170 p.S57F 0.000 superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 50 23 31.51 97 0 0.00 RPA4 29935 genome.wustl.edu 37 X 96139684 96139684 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139684 96139684 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known silent c.375 p.V125 0.056 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 15 10 40.00 27 0 0.00 RPA4 29935 genome.wustl.edu 37 X 96139912 96139912 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139912 96139912 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known silent c.603 p.I201 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 26 11 29.73 74 0 0.00 RPA4 29935 genome.wustl.edu 37 X 96139949 96139949 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139949 96139949 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.640 p.H214Y 0.001 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 19 9 32.14 56 0 0.00 RPAIN 84268 genome.wustl.edu 37 17 5324784 5324784 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 5324784 5324784 C T SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known nonsense c.250 p.Q84* 0.998 NULL NULL - no_errors RPAIN HGNC ENSG00000129197 29 16 35.56 57 0 0.00 RPAIN 84268 genome.wustl.edu 37 17 5329310 5329310 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 5329310 5329310 G T SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known missense c.333 p.E111D 0.979 NULL NULL - no_errors RPAIN HGNC ENSG00000129197 36 4 10.00 38 0 0.00 RPAIN 84268 genome.wustl.edu 37 17 5329587 5329587 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 5329587 5329587 G C SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known missense c.457 p.V153L 0.000 NULL NULL - no_errors RPAIN HGNC ENSG00000129197 142 83 36.73 264 0 0.00 RPAP1 26015 genome.wustl.edu 37 15 41812581 41812581 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41812581 41812581 G A SNP RPAP1 ENST00000562303 human ensembl 70_37 -1 known missense c.3803 p.S1268F 0.046 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 43 17 28.33 40 0 0.00 RPAP1 26015 genome.wustl.edu 37 15 41812658 41812658 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 41812658 41812658 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known silent c.3726 p.V1242 0.998 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 56 26 31.71 51 0 0.00 RPAP1 26015 genome.wustl.edu 37 15 41815045 41815045 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 41815045 41815045 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known missense c.2660 p.S887L 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 44 17 27.87 56 0 0.00 RPAP1 26015 genome.wustl.edu 37 15 41815045 41815045 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41815045 41815045 G C SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known nonsense c.2660 p.S887* 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 36 10 21.74 32 0 0.00 RPAP1 26015 genome.wustl.edu 37 15 41819251 41819251 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 41819251 41819251 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known missense c.1762 p.R588W 0.994 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 3 12 80.00 48 0 0.00 RPAP2 79871 genome.wustl.edu 37 1 92789379 92789379 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92789379 92789379 C A SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known nonsense c.902 p.S301* 0.035 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 19 8 29.63 14 0 0.00 RPAP2 79871 genome.wustl.edu 37 1 92789846 92789846 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 92789846 92789846 G A SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known missense c.1369 p.E457K 0.525 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 47 12 20.34 42 0 0.00 RPAP2 79871 genome.wustl.edu 37 1 92798963 92798963 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 92798963 92798963 C G SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known missense c.1471 p.P491A 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 40 31 43.66 36 0 0.00 RPAP2 79871 genome.wustl.edu 37 1 92798963 92798963 + Missense_Mutation SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 92798963 92798963 C G SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known missense c.1471 p.P491A 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 82 48 36.64 101 0 0.00 RPAP2 79871 genome.wustl.edu 37 1 92846426 92846426 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 92846426 92846426 G C SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known missense c.1834 p.E612Q 0.001 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 48 7 12.73 46 0 0.00 RPAP3 79657 genome.wustl.edu 37 12 48061569 48061569 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 48061569 48061569 C G SNP RPAP3 ENST00000005386 human ensembl 70_37 -1 known missense c.1779 p.Q593H 0.951 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 14 3 16.67 12 0 0.00 RPE65 6121 genome.wustl.edu 37 1 68896859 68896859 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 68896859 68896859 G T SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1339 p.L447I 0.996 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 21 3 12.50 51 0 0.00 RPE65 6121 genome.wustl.edu 37 1 68896970 68896970 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 68896970 68896970 C G SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1333 p.D445H 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 9 16 64.00 25 0 0.00 RPE65 6121 genome.wustl.edu 37 1 68903995 68903995 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 68903995 68903995 C G SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1003 p.E335Q 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 36 5 11.90 25 0 0.00 RPE65 6121 genome.wustl.edu 37 1 68906582 68906582 + Missense_Mutation SNP A A T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 68906582 68906582 A T SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.597 p.N199K 0.997 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 24 10 29.41 45 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38132722 38132722 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38132722 38132722 G A SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2773 p.L925F 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 34 8 19.05 44 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38135962 38135962 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 38135962 38135962 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2584 p.E862K 0.001 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 59 38 39.18 121 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38145271 38145272 + In_Frame_Ins INS - - CCC TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 X 38145271 38145272 - CCC INS RPGR ENST00000378505 human ensembl 70_37 -1 known in_frame_ins c.2981_2980 p.994in_frame_insG 0.060:0.135 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 4 2 33.33 15 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146058 38146058 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 38146058 38146058 C A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known nonsense c.2194 p.E732* 0.002 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 131 71 34.98 142 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146175 38146175 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 38146175 38146175 C G SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.2077 p.E693Q 0.440 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 52 11 17.46 67 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146372 38146372 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 38146372 38146372 G C SNP RPGR ENST00000378505 human ensembl 70_37 -1 known nonsense c.1880 p.S627* 0.153 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 22 20 47.62 38 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146592 38146592 + Silent SNP T T G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 38146592 38146592 T G SNP RPGR ENST00000339363 human ensembl 70_37 -1 known silent c.2275 p.R759 0.069 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 120 22 15.49 96 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146664 38146664 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 38146664 38146664 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2203 p.E735K 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 75 13 14.77 86 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38146820 38146820 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38146820 38146820 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2047 p.E683K 0.008 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 101 23 18.55 95 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38156567 38156567 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 38156567 38156567 C T SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.1384 p.E462K 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 37 22 37.29 57 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38156574 38156574 + Silent SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 38156574 38156574 G C SNP RPGR ENST00000378505 human ensembl 70_37 -1 known silent c.1377 p.V459 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 22 5 18.52 68 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38158229 38158229 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38158229 38158229 G A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.1225 p.R409C 0.952 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 50 13 20.63 61 0 0.00 RPGR 6103 genome.wustl.edu 37 X 38180282 38180282 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 38180282 38180282 G A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.308 p.T103I 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 50 11 18.03 52 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21756215 21756215 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21756215 21756215 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known nonsense c.80 p.S27* 0.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 14 17 54.84 15 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21769221 21769221 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 21769221 21769221 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.315 p.Q105 0.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 26 12 31.58 29 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21771580 21771580 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21771580 21771580 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.678 p.I226M 0.004 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 12 13 52.00 16 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21771605 21771605 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21771605 21771605 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.703 p.E235K 0.998 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 11 8 42.11 11 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21780021 21780021 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 21780021 21780021 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.969 p.L323 0.001 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 46 13 22.03 47 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21780094 21780094 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21780094 21780094 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1042 p.E348K 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 10 7 41.18 14 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21780626 21780626 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 21780626 21780626 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1112 p.R371Q 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 24 17 40.48 42 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21788328 21788328 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 21788328 21788328 C T SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known nonsense c.1459 p.Q487* 0.015 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 32 4 10.81 37 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21789513 21789513 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21789513 21789513 G C SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1563 p.K521N 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 36 20 35.71 59 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21790060 21790060 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21790060 21790060 T A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1659 p.D553E 0.006 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 40 5 11.11 48 0 0.00 RPGRIP1 57096 genome.wustl.edu 37 14 21793410 21793410 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 21793410 21793410 C T SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.2235 p.F745 0.550 pfam_DUF3250 pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 38 15 28.30 54 0 0.00 RPGRIP1L 23322 genome.wustl.edu 37 16 53670409 53670409 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 53670409 53670409 G A SNP RPGRIP1L ENST00000379925 human ensembl 70_37 -1 known missense c.3236 p.S1079L 0.774 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 18 8 30.77 34 0 0.00 RPGRIP1L 23322 genome.wustl.edu 37 16 53686744 53686744 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 53686744 53686744 C G SNP RPGRIP1L ENST00000379925 human ensembl 70_37 -1 known missense c.1855 p.E619Q 0.999 pfam_DUF3250,smart_C2_Ca-dep pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 18 9 33.33 32 0 0.00 RPGRIP1L 23322 genome.wustl.edu 37 16 53729285 53729285 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 53729285 53729285 G A SNP RPGRIP1L ENST00000568653 human ensembl 70_37 -1 putative nonsense c.316 p.Q106* 0.000 NULL NULL - no_errors RPGRIP1L HGNC ENSG00000103494 39 6 13.33 29 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113266130 113266130 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 113266130 113266130 G C SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.7 p.D3H 1.000 pfam_Rabphilin3A_effector_Zn-bd pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 74 13 14.94 101 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113285528 113285528 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 113285528 113285528 C A SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known silent c.111 p.P37 0.018 pfam_Rabphilin3A_effector_Zn-bd pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 13 8 38.10 29 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113307748 113307748 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113307748 113307748 C T SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.700 p.R234C 1.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 36 14 28.00 53 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113314457 113314457 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 12 113314457 113314457 G C SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known silent c.957 p.P319 0.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 11 3 21.43 26 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113325694 113325694 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 113325694 113325694 A C SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.1529 p.K510T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 22 11 33.33 43 0 0.00 RPH3A 22895 genome.wustl.edu 37 12 113327880 113327880 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113327880 113327880 G A SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.1615 p.E539K 1.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 26 16 38.10 40 0 0.00 RPH3AL 9501 genome.wustl.edu 37 17 63648 63648 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 63648 63648 C T SNP RPH3AL ENST00000331302 human ensembl 70_37 -1 known missense c.943 p.G315S 0.006 NULL pfam_Rabphilin3A_effector_Zn-bd,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 22 11 33.33 54 0 0.00 RPIA 22934 genome.wustl.edu 37 2 88991297 88991297 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 88991297 88991297 C T SNP RPIA ENST00000283646 human ensembl 70_37 +1 known silent c.81 p.S27 0.001 NULL pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC ENSG00000153574 11 5 31.25 9 0 0.00 RPL10 6134 genome.wustl.edu 37 X 153629109 153629109 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 153629109 153629109 G A SNP RPL10 ENST00000344746 human ensembl 70_37 +1 known missense c.559 p.E187K 1.000 pirsf_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 27 6 18.18 32 0 0.00 RPL10A 4736 genome.wustl.edu 37 6 35436196 35436196 + RNA SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 35436196 35436196 C G SNP RPL10A ENST00000467020 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC ENSG00000198755 40 21 34.43 43 0 0.00 RPL10A 4736 genome.wustl.edu 37 6 35436227 35436227 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 35436227 35436227 C T SNP RPL10A ENST00000464112 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC ENSG00000198755 23 21 47.73 53 0 0.00 RPL10A 4736 genome.wustl.edu 37 6 35436280 35436280 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 35436280 35436280 C G SNP RPL10A ENST00000464112 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC ENSG00000198755 20 10 33.33 20 0 0.00 RPL11 6135 genome.wustl.edu 37 1 24022845 24022845 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 24022845 24022845 C T SNP RPL11 ENST00000374550 human ensembl 70_37 +1 known silent c.519 p.I173 1.000 superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC ENSG00000142676 66 40 37.74 90 0 0.00 RPL11 6135 genome.wustl.edu 37 1 24022863 24022863 + Nonstop_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 24022863 24022863 A C SNP RPL11 ENST00000374550 human ensembl 70_37 +1 known nonstop c.537 p.*179Y 1.000 NULL pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC ENSG00000142676 36 22 37.93 86 0 0.00 RPL13A 23521 genome.wustl.edu 37 19 49993523 49993523 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 49993523 49993523 C G SNP RPL13A ENST00000391857 human ensembl 70_37 +1 known missense c.123 p.I41M 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 44 26 37.14 66 0 0.00 RPL13A 23521 genome.wustl.edu 37 19 49993803 49993803 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 49993803 49993803 C T SNP RPL13A ENST00000391857 human ensembl 70_37 +1 known missense c.226 p.P76S 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 27 7 20.59 30 0 0.00 RPL13AP3 645683 genome.wustl.edu 37 14 56233559 56233559 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 56233559 56233559 C G SNP RPL13AP3 ENST00000494676 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors RPL13AP3 HGNC ENSG00000177350 14 10 41.67 38 0 0.00 RPL13P5 283345 genome.wustl.edu 37 12 6993274 6993274 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 6993274 6993274 C T SNP RPL13P5 ENST00000412023 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RPL13P5 HGNC ENSG00000240370 33 12 26.67 36 0 0.00 RPL13P5 283345 genome.wustl.edu 37 12 6993598 6993598 + RNA SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 6993598 6993598 G A SNP RPL13P5 ENST00000412023 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors RPL13P5 HGNC ENSG00000240370 51 6 10.53 57 0 0.00 RPL14 9045 genome.wustl.edu 37 3 40503459 40503459 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 40503459 40503459 G A SNP RPL14 ENST00000338970 human ensembl 70_37 +1 known silent c.384 p.K128 1.000 NULL pfam_Ribosomal_L14 - no_errors RPL14 HGNC ENSG00000188846 28 17 37.78 23 0 0.00 RPL18 6141 genome.wustl.edu 37 19 49119188 49119188 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49119188 49119188 C T SNP RPL18 ENST00000549920 human ensembl 70_37 -1 known missense c.437 p.R146Q 1.000 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors RPL18 HGNC ENSG00000063177 35 13 27.08 44 0 0.00 RPL22P19 644022 genome.wustl.edu 37 12 125420292 125420292 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 125420292 125420292 C G SNP RPL22P19 ENST00000480427 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 27 24 46.15 41 0 0.00 RPL23AP7 118433 genome.wustl.edu 37 2 114369640 114369640 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 114369640 114369640 C G SNP RPL23AP7 ENST00000391616 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP7 HGNC ENSG00000240356 16 59 78.67 70 0 0.00 RPL23AP79 100271626 genome.wustl.edu 37 19 59093704 59093704 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 59093704 59093704 C A SNP RPL23AP79 ENST00000493504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL23AP79 HGNC ENSG00000213753 36 5 12.20 38 0 0.00 RPL23AP79 100271626 genome.wustl.edu 37 19 59110367 59110367 + RNA SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 59110367 59110367 C A SNP RPL23AP79 ENST00000473164 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL23AP79 HGNC ENSG00000213753 34 19 35.85 43 0 0.00 RPL23AP82 284942 genome.wustl.edu 37 22 51237617 51237617 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 51237617 51237617 C G SNP RPL23AP82 ENST00000462238 human ensembl 70_37 +1 known rna NULL NULL 0.597 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 21 9 30.00 24 0 0.00 RPL23AP82 284942 genome.wustl.edu 37 22 51237643 51237643 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 51237643 51237643 C G SNP RPL23AP82 ENST00000462238 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 14 9 39.13 32 0 0.00 RPL27 6155 genome.wustl.edu 37 17 41154798 41154798 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41154798 41154798 G C SNP RPL27 ENST00000253788 human ensembl 70_37 +1 known missense c.360 p.E120D 1.000 pfam_Ribosomal_L27e pfam_Ribosomal_L27e,pfam_KOW,smart_KOW - no_errors RPL27 HGNC ENSG00000131469 139 24 14.72 174 0 0.00 RPL28 6158 genome.wustl.edu 37 19 55898086 55898086 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 55898086 55898086 G C SNP RPL28 ENST00000431533 human ensembl 70_37 +1 known missense c.230 p.R77T 0.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 24 13 35.14 34 0 0.00 RPL28 6158 genome.wustl.edu 37 19 55899502 55899502 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899502 55899502 G A SNP RPL28 ENST00000560583 human ensembl 70_37 +1 known nonsense c.410 p.W137* 0.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 30 14 31.82 29 0 0.00 RPL28 6158 genome.wustl.edu 37 19 55899505 55899505 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899505 55899505 G A SNP RPL28 ENST00000560583 human ensembl 70_37 +1 known missense c.413 p.R138K 0.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 29 13 30.95 27 0 0.00 RPL28 6158 genome.wustl.edu 37 19 55899664 55899664 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899664 55899664 G A SNP RPL28 ENST00000344063 human ensembl 70_37 +1 known silent c.378 p.V126 1.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 22 9 29.03 12 0 0.00 RPL29 6159 genome.wustl.edu 37 3 52027809 52027809 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 52027809 52027809 G A SNP RPL29 ENST00000294189 human ensembl 70_37 -1 known nonsense c.436 p.Q146* 0.491 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 33 5 13.16 84 0 0.00 RPL29 6159 genome.wustl.edu 37 3 52027880 52027880 + Frame_Shift_Del DEL T T - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 52027880 52027880 T - DEL RPL29 ENST00000294189 human ensembl 70_37 -1 known frame_shift_del c.365 p.K122fs 0.982 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 41 6 12.77 110 0 0.00 RPL3 6122 genome.wustl.edu 37 22 39708974 39708974 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 22 39708974 39708974 C T SNP RPL3 ENST00000216146 human ensembl 70_37 -1 known missense c.1183 p.D395N 1.000 NULL pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3 HGNC ENSG00000100316 50 7 12.28 44 0 0.00 RPL3 6122 genome.wustl.edu 37 22 39709277 39709277 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 39709277 39709277 C G SNP RPL3 ENST00000216146 human ensembl 70_37 -1 known missense c.1086 p.K362N 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3 HGNC ENSG00000100316 51 14 21.21 55 0 0.00 RPL31 6160 genome.wustl.edu 37 2 101619193 101619193 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 101619193 101619193 G T SNP RPL31 ENST00000264258 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom - no_errors RPL31 HGNC ENSG00000071082 36 29 44.62 46 0 0.00 RPL31P11 641311 genome.wustl.edu 37 1 161654571 161654572 + RNA INS - - T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 161654571 161654572 - T INS RPL31P11 ENST00000426558 human ensembl 70_37 -1 known rna NULL NULL 0.140:0.150 - - - no_errors RPL31P11 HGNC ENSG00000213075 3 5 62.50 8 0 0.00 RPL32P3 132241 genome.wustl.edu 37 3 129111991 129111991 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 129111991 129111991 C G SNP RPL32P3 ENST00000514355 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RPL32P3 HGNC ENSG00000251474 51 14 21.54 33 0 0.00 RPL34-AS1 285456 genome.wustl.edu 37 4 109519750 109519750 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 109519750 109519750 C G SNP RPL34-AS1 ENST00000510212 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RPL34-AS1 HGNC ENSG00000234492 54 14 20.59 28 0 0.00 RPL35 11224 genome.wustl.edu 37 9 127622541 127622541 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 127622541 127622541 C T SNP RPL35 ENST00000348462 human ensembl 70_37 -1 known missense c.143 p.R48Q 1.000 pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 - no_errors RPL35 HGNC ENSG00000136942 47 36 43.37 87 0 0.00 RPL35 11224 genome.wustl.edu 37 9 127623691 127623691 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 127623691 127623691 C T SNP RPL35 ENST00000495728 human ensembl 70_37 -1 known rna NULL NULL 0.241 - - - no_errors RPL35 HGNC ENSG00000136942 58 13 18.31 30 0 0.00 RPL36 25873 genome.wustl.edu 37 19 5691504 5691504 + Nonsense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 5691504 5691504 G T SNP RPL36 ENST00000579446 human ensembl 70_37 +1 putative nonsense c.268 p.E90* 0.000 NULL pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 60 14 18.92 44 0 0.00 RPL36 25873 genome.wustl.edu 37 19 5691566 5691566 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 5691566 5691566 G A SNP RPL36 ENST00000347512 human ensembl 70_37 +1 known silent c.252 p.K84 1.000 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 49 18 26.87 38 0 0.00 RPL39 6170 genome.wustl.edu 37 X 118920604 118920604 + RNA SNP C C A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 118920604 118920604 C A SNP RPL39 ENST00000468844 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPL39 HGNC ENSG00000198918 28 19 40.43 38 0 0.00 RPL39 6170 genome.wustl.edu 37 X 118920604 118920604 + RNA SNP C C A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 118920604 118920604 C A SNP RPL39 ENST00000468844 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPL39 HGNC ENSG00000198918 96 46 32.17 157 0 0.00 RPL39 6170 genome.wustl.edu 37 X 118921285 118921285 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118921285 118921285 C T SNP RPL39 ENST00000477403 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RPL39 HGNC ENSG00000198918 15 8 34.78 40 0 0.00 RPL4 6124 genome.wustl.edu 37 15 66792466 66792466 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 66792466 66792466 C G SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.966 p.L322F 1.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 26 31 54.39 63 0 0.00 RPL4 6124 genome.wustl.edu 37 15 66793301 66793301 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 66793301 66793301 G C SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known silent c.819 p.L273 0.993 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 25 10 28.57 27 0 0.00 RPL4 6124 genome.wustl.edu 37 15 66793822 66793822 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 66793822 66793822 C G SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.567 p.M189I 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 20 6 23.08 19 0 0.00 RPL4 6124 genome.wustl.edu 37 15 66795497 66795497 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 66795497 66795497 G C SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.181 p.Q61E 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 17 11 39.29 26 0 0.00 RPL4 6124 genome.wustl.edu 37 15 66797732 66797732 + RNA SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 66797732 66797732 G A SNP RPL4 ENST00000564517 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RPL4 HGNC ENSG00000174444 104 14 11.86 61 0 0.00 RPL41 6171 genome.wustl.edu 37 12 56510565 56510565 + RNA SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 56510565 56510565 C G SNP RPL41 ENST00000358888 human ensembl 70_37 +1 known rna NULL NULL 0.733 - - - no_errors RPL41 HGNC ENSG00000229117 73 18 19.78 89 0 0.00 RPL6 6128 genome.wustl.edu 37 12 112843702 112843702 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112843702 112843702 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known silent c.669 p.R223 0.997 pfam_Ribosomal_L6E,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 19 15 44.12 30 0 0.00 RPL6 6128 genome.wustl.edu 37 12 112844564 112844564 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 112844564 112844564 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known missense c.467 p.R156H 1.000 superfamily_Translation_prot_SH3-like pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 41 21 33.87 69 0 0.00 RPL6 6128 genome.wustl.edu 37 12 112846139 112846139 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 112846139 112846139 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known missense c.241 p.E81K 1.000 pfam_Ribosomal_L6_N pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 119 62 34.25 166 0 0.00 RPL6P27 645387 genome.wustl.edu 37 18 6462298 6462298 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 6462298 6462298 C G SNP RPL6P27 ENST00000583065 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL6P27 HGNC ENSG00000235552 21 11 34.38 12 0 0.00 RPL6P27 645387 genome.wustl.edu 37 18 6462383 6462383 + RNA SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 18 6462383 6462383 T C SNP RPL6P27 ENST00000583065 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL6P27 HGNC ENSG00000235552 14 4 22.22 19 0 0.00 RPL7 6129 genome.wustl.edu 37 8 74203306 74203306 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 74203306 74203306 G A SNP RPL7 ENST00000352983 human ensembl 70_37 -1 known silent c.720 p.I240 1.000 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC ENSG00000147604 42 24 36.36 47 0 0.00 RPL7A 6130 genome.wustl.edu 37 9 136215803 136215803 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 136215803 136215803 G C SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 30 20 40.00 33 0 0.00 RPL7A 6130 genome.wustl.edu 37 9 136216355 136216355 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 136216355 136216355 G A SNP RPL7A ENST00000489392 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL7A HGNC ENSG00000148303 73 23 23.96 107 0 0.00 RPL7A 6130 genome.wustl.edu 37 9 136216849 136216849 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136216849 136216849 G A SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known silent c.357 p.E119 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 43 23 34.85 31 0 0.00 RPL7A 6130 genome.wustl.edu 37 9 136217463 136217463 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 136217463 136217463 C G SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known missense c.507 p.F169L 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 27 22 44.90 65 0 0.00 RPL7L1 285855 genome.wustl.edu 37 6 42852380 42852380 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 42852380 42852380 G T SNP RPL7L1 ENST00000304734 human ensembl 70_37 +1 known missense c.314 p.R105I 0.184 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC ENSG00000146223 39 41 51.25 82 0 0.00 RPL7L1 285855 genome.wustl.edu 37 6 42853756 42853756 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 42853756 42853756 G C SNP RPL7L1 ENST00000304734 human ensembl 70_37 +1 known missense c.467 p.G156A 1.000 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC ENSG00000146223 21 6 22.22 33 0 0.00 RPL8 6132 genome.wustl.edu 37 8 146015306 146015306 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 146015306 146015306 G A SNP RPL8 ENST00000262584 human ensembl 70_37 -1 known silent c.657 p.I219 0.636 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 17 14 45.16 15 0 0.00 RPL8 6132 genome.wustl.edu 37 8 146016665 146016665 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 146016665 146016665 C A SNP RPL8 ENST00000262584 human ensembl 70_37 -1 known missense c.496 p.V166F 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 38 16 29.63 54 0 0.00 RPL9 6133 genome.wustl.edu 37 4 39458080 39458080 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 39458080 39458080 C T SNP RPL9 ENST00000295955 human ensembl 70_37 -1 known missense c.337 p.E113K 1.000 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC ENSG00000163682 40 11 21.57 98 0 0.00 RPLP0 6175 genome.wustl.edu 37 12 120634585 120634585 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120634585 120634585 G C SNP RPLP0 ENST00000228306 human ensembl 70_37 -1 known silent c.945 p.L315 0.995 pfam_Ribosomal_60S pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S - no_errors RPLP0 HGNC ENSG00000089157 141 48 25.13 145 0 0.00 RPLP0 6175 genome.wustl.edu 37 12 120638791 120638791 + RNA SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 120638791 120638791 G A SNP RPLP0 ENST00000551336 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RPLP0 HGNC ENSG00000089157 4 34 89.47 46 0 0.00 RPLP0P2 113157 genome.wustl.edu 37 11 61404313 61404313 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 61404313 61404313 G A SNP RPLP0P2 ENST00000496593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 25 13 34.21 32 0 0.00 RPLP0P2 113157 genome.wustl.edu 37 11 61404631 61404631 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 61404631 61404631 G A SNP RPLP0P2 ENST00000496593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 13 14 51.85 26 0 0.00 RPN1 6184 genome.wustl.edu 37 3 128339366 128339366 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 128339366 128339366 C T SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known missense c.1712 p.R571H 1.000 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 35 10 22.22 54 0 0.00 RPN1 6184 genome.wustl.edu 37 3 128341190 128341190 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128341190 128341190 G C SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known silent c.1458 p.V486 1.000 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 159 50 23.81 95 0 0.00 RPN1 6184 genome.wustl.edu 37 3 128345602 128345602 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 128345602 128345602 C T SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known silent c.1110 p.V370 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 89 33 27.05 50 0 0.00 RPN1 6184 genome.wustl.edu 37 3 128363805 128363805 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 128363805 128363805 C G SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known missense c.283 p.E95Q 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 67 25 27.17 87 0 0.00 RPP14 11102 genome.wustl.edu 37 3 58303748 58303748 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58303748 58303748 C T SNP RPP14 ENST00000544156 human ensembl 70_37 +1 known silent c.408 p.F136 0.000 pfam_MaoC_deHydtase pfam_MaoC_deHydtase - no_errors RPP14 Uniprot_genename ENSG00000255154 28 10 26.32 18 0 0.00 RPP30 10556 genome.wustl.edu 37 10 92631788 92631788 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 92631788 92631788 G A SNP RPP30 ENST00000413330 human ensembl 70_37 +1 known silent c.45 p.L15 0.498 superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 36 11 23.40 43 0 0.00 RPPH1 85495 genome.wustl.edu 37 14 20811367 20811367 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 20811367 20811367 G A SNP RPPH1 ENST00000516869 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPPH1 HGNC ENSG00000252678 37 17 31.48 28 0 0.00 RPPH1 85495 genome.wustl.edu 37 14 20811630 20811630 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 20811630 20811630 T G SNP RPPH1 ENST00000554988 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPPH1 Clone_based_vega_gene ENSG00000259001 10 6 37.50 29 0 0.00 RPPH1 85495 genome.wustl.edu 37 14 20811642 20811642 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 20811642 20811642 C T SNP RPPH1 ENST00000554988 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RPPH1 Clone_based_vega_gene ENSG00000259001 18 8 30.77 22 0 0.00 RPRD1B 58490 genome.wustl.edu 37 20 36694563 36694563 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 36694563 36694563 G T SNP RPRD1B ENST00000373433 human ensembl 70_37 +1 known missense c.736 p.A246S 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1B HGNC ENSG00000101413 45 5 10.00 34 0 0.00 RPRD2 23248 genome.wustl.edu 37 1 150390097 150390097 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150390097 150390097 C G SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known silent c.231 p.L77 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 76 32 29.63 106 1 0.93 RPRD2 23248 genome.wustl.edu 37 1 150413444 150413444 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 150413444 150413444 G T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.381 p.W127C 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 20 14 41.18 16 0 0.00 RPRD2 23248 genome.wustl.edu 37 1 150429953 150429953 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150429953 150429953 G A SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.1060 p.E354K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 51 21 29.17 50 0 0.00 RPRD2 23248 genome.wustl.edu 37 1 150443762 150443762 + Silent SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 150443762 150443762 C A SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known silent c.2338 p.R780 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 17 3 15.00 22 0 0.00 RPRD2 23248 genome.wustl.edu 37 1 150444968 150444968 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150444968 150444968 C T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.3544 p.R1182C 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 24 17 41.46 35 0 0.00 RPRD2 23248 genome.wustl.edu 37 1 150445007 150445007 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150445007 150445007 C T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.3583 p.P1195S 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 17 15 45.45 23 0 0.00 RPS10 6204 genome.wustl.edu 37 6 34386188 34386188 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34386188 34386188 C G SNP RPS10 ENST00000326199 human ensembl 70_37 -1 known missense c.414 p.K138N 1.000 NULL pfam_S10_plectin_N - no_errors RPS10 HGNC ENSG00000124614 64 33 34.02 125 0 0.00 RPS10P7 376693 genome.wustl.edu 37 1 201489718 201489719 + RNA INS - - A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 1 201489718 201489719 - A INS RPS10P7 ENST00000441932 human ensembl 70_37 +1 known rna NULL NULL 0.051:0.056 - - - no_errors RPS10P7 HGNC ENSG00000223396 8 2 20.00 14 0 0.00 RPS10P7 376693 genome.wustl.edu 37 1 201489719 201489719 + RNA DEL A A - TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 201489719 201489719 A - DEL RPS10P7 ENST00000441932 human ensembl 70_37 +1 known rna NULL NULL 0.056 - - - no_errors RPS10P7 HGNC ENSG00000223396 14 4 22.22 22 0 0.00 RPS13 6207 genome.wustl.edu 37 11 17097005 17097005 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17097005 17097005 C G SNP RPS13 ENST00000525634 human ensembl 70_37 -1 known missense c.317 p.R106T 1.000 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 34 16 32.00 39 0 0.00 RPS13 6207 genome.wustl.edu 37 11 17098993 17098993 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 17098993 17098993 G C SNP RPS13 ENST00000525634 human ensembl 70_37 -1 known missense c.55 p.R19G 1.000 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 36 7 16.28 47 0 0.00 RPS16 6217 genome.wustl.edu 37 19 39923928 39923928 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 39923928 39923928 C T SNP RPS16 ENST00000251453 human ensembl 70_37 -1 known silent c.426 p.Q142 1.000 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors RPS16 HGNC ENSG00000105193 63 7 10.00 45 0 0.00 RPS18 6222 genome.wustl.edu 37 6 33239880 33239880 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 33239880 33239880 C A SNP RPS18 ENST00000476222 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS18 HGNC ENSG00000231500 16 11 40.74 30 0 0.00 RPS19 6223 genome.wustl.edu 37 19 42364871 42364871 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42364871 42364871 G C SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known silent c.27 p.V9 0.998 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 48 20 28.99 37 0 0.00 RPS19 6223 genome.wustl.edu 37 19 42364896 42364896 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 42364896 42364896 C G SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known missense c.52 p.L18V 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 50 21 29.58 56 0 0.00 RPS19 6223 genome.wustl.edu 37 19 42365220 42365220 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 42365220 42365220 C A SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known silent c.111 p.V37 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 67 39 36.79 104 0 0.00 RPS19BP1 91582 genome.wustl.edu 37 22 39928446 39928446 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 39928446 39928446 C G SNP RPS19BP1 ENST00000334678 human ensembl 70_37 -1 known missense c.135 p.Q45H 0.944 NULL prints_Active_regulator_of_SIRT1 - no_errors RPS19BP1 HGNC ENSG00000187051 57 40 41.24 78 0 0.00 RPS2 6187 genome.wustl.edu 37 16 2012214 2012214 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2012214 2012214 C T SNP RPS2 ENST00000343262 human ensembl 70_37 -1 known nonsense c.767 p.W256* 1.000 pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Ribosomal_S5_euk/arc pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC ENSG00000140988 61 25 29.07 63 0 0.00 RPS21 6227 genome.wustl.edu 37 20 60962391 60962391 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 60962391 60962391 C G SNP RPS21 ENST00000492356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS21 HGNC ENSG00000171858 43 12 21.43 40 0 0.00 RPS21 6227 genome.wustl.edu 37 20 60962962 60962962 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 60962962 60962962 C T SNP RPS21 ENST00000370592 human ensembl 70_37 +1 known missense c.178 p.R60C 1.000 pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e - no_errors RPS21 HGNC ENSG00000171858 91 11 10.78 108 0 0.00 RPS23 6228 genome.wustl.edu 37 5 81573526 81573526 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 81573526 81573526 G A SNP RPS23 ENST00000296674 human ensembl 70_37 -1 known silent c.150 p.I50 0.827 pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC ENSG00000186468 181 49 21.30 245 0 0.00 RPS23 6228 genome.wustl.edu 37 5 81573540 81573540 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 81573540 81573540 G A SNP RPS23 ENST00000296674 human ensembl 70_37 -1 known missense c.136 p.H46Y 1.000 pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC ENSG00000186468 159 50 23.92 225 0 0.00 RPS24 6229 genome.wustl.edu 37 10 79814352 79814352 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 79814352 79814352 G C SNP RPS24 ENST00000440692 human ensembl 70_37 +1 known missense c.454 p.D152H 0.001 NULL pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPS24 HGNC ENSG00000138326 83 14 14.29 65 0 0.00 RPS25 6230 genome.wustl.edu 37 11 118888132 118888132 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 118888132 118888132 C T SNP RPS25 ENST00000527673 human ensembl 70_37 -1 known missense c.223 p.E75K 1.000 pfam_Ribosomal_S25 pfam_Ribosomal_S25 - no_errors RPS25 HGNC ENSG00000118181 41 20 32.79 58 0 0.00 RPS27A 6233 genome.wustl.edu 37 2 55459972 55459972 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 55459972 55459972 C T SNP RPS27A ENST00000272317 human ensembl 70_37 +1 known silent c.12 p.F4 1.000 pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_Ribosomal_S27a,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors RPS27A HGNC ENSG00000143947 19 17 47.22 28 0 0.00 RPS28 6234 genome.wustl.edu 37 19 8386420 8386420 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 19 8386420 8386420 C T SNP RPS28 ENST00000600659 human ensembl 70_37 +1 known silent c.6 p.D2 0.941 pfam_Ribosomal_S28e pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like - no_errors RPS28 HGNC ENSG00000233927 29 22 43.14 49 0 0.00 RPS28 6234 genome.wustl.edu 37 19 8386554 8386554 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 8386554 8386554 G A SNP RPS28 ENST00000600659 human ensembl 70_37 +1 known silent c.54 p.L18 1.000 pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like - no_errors RPS28 HGNC ENSG00000233927 22 12 35.29 41 0 0.00 RPS29 6235 genome.wustl.edu 37 14 50050372 50050372 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50050372 50050372 G C SNP RPS29 ENST00000557111 human ensembl 70_37 -1 putative rna NULL NULL 0.043 - - - no_errors RPS29 HGNC ENSG00000213741 60 8 11.76 65 0 0.00 RPS3A 6189 genome.wustl.edu 37 4 152022192 152022192 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 152022192 152022192 G A SNP RPS3A ENST00000274065 human ensembl 70_37 +1 known missense c.232 p.E78K 1.000 pfam_Ribosomal_S3Ae pfam_Ribosomal_S3Ae - no_errors RPS3A HGNC ENSG00000145425 11 15 57.69 18 0 0.00 RPS4X 6191 genome.wustl.edu 37 X 71493751 71493751 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 71493751 71493751 G A SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known silent c.432 p.A144 0.995 pfam_Ribosomal_S4e_central,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 50 11 18.03 52 0 0.00 RPS4X 6191 genome.wustl.edu 37 X 71494328 71494328 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71494328 71494328 A C SNP RPS4X ENST00000486733 human ensembl 70_37 -1 known rna NULL NULL 0.919 - - - no_errors RPS4X HGNC ENSG00000198034 15 15 50.00 59 0 0.00 RPS4X 6191 genome.wustl.edu 37 X 71495421 71495421 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 71495421 71495421 C T SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known missense c.235 p.D79N 1.000 pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 71 24 25.26 63 0 0.00 RPS4X 6191 genome.wustl.edu 37 X 71495568 71495568 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 71495568 71495568 G A SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known missense c.88 p.R30C 1.000 pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 17 7 29.17 36 0 0.00 RPS5 6193 genome.wustl.edu 37 19 58904758 58904758 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58904758 58904758 C G SNP RPS5 ENST00000196551 human ensembl 70_37 +1 known missense c.351 p.I117M 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 86 23 20.91 115 0 0.00 RPS5 6193 genome.wustl.edu 37 19 58906057 58906057 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58906057 58906057 G A SNP RPS5 ENST00000196551 human ensembl 70_37 +1 known silent c.555 p.S185 0.970 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 197 58 22.75 264 0 0.00 RPS6 6194 genome.wustl.edu 37 9 19376658 19376658 + RNA SNP T T G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 9 19376658 19376658 T G SNP RPS6 ENST00000498815 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS6 HGNC ENSG00000137154 58 26 30.95 26 0 0.00 RPS6 6194 genome.wustl.edu 37 9 19378854 19378854 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19378854 19378854 G T SNP RPS6 ENST00000380394 human ensembl 70_37 -1 known silent c.201 p.V67 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC ENSG00000137154 17 10 37.04 41 0 0.00 RPS6KA1 6195 genome.wustl.edu 37 1 26898762 26898763 + Frame_Shift_Del DEL AC AC - TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 26898762 26898763 AC - DEL RPS6KA1 ENST00000531382 human ensembl 70_37 +1 known frame_shift_del c.1952_1953 p.T652fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 46 10 17.86 94 0 0.00 RPS6KA2 6196 genome.wustl.edu 37 6 166826326 166826326 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 166826326 166826326 G A SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known missense c.2201 p.P734L 0.997 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 30 27 47.37 44 0 0.00 RPS6KA2 6196 genome.wustl.edu 37 6 166827357 166827357 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 166827357 166827357 G A SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.2076 p.L692 0.933 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 35 25 40.98 76 0 0.00 RPS6KA2 6196 genome.wustl.edu 37 6 166872944 166872944 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 166872944 166872944 C T SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.1143 p.T381 0.999 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 28 10 26.32 60 0 0.00 RPS6KA2 6196 genome.wustl.edu 37 6 166873007 166873007 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 166873007 166873007 G C SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known missense c.1080 p.F360L 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 37 7 15.91 44 0 0.00 RPS6KA2 6196 genome.wustl.edu 37 6 166918098 166918098 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 166918098 166918098 G C SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.537 p.V179 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 121 35 22.44 152 0 0.00 RPS6KA2-IT1 100874353 genome.wustl.edu 37 6 166876574 166876574 + RNA SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 166876574 166876574 G C SNP RPS6KA2-IT1 ENST00000416770 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS6KA2-IT1 HGNC ENSG00000232082 1 30 96.77 26 0 0.00 RPS6KA3 6197 genome.wustl.edu 37 X 20179862 20179862 + Missense_Mutation SNP T T A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 20179862 20179862 T A SNP RPS6KA3 ENST00000379565 human ensembl 70_37 -1 known missense c.1859 p.N620I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 62 47 43.12 75 0 0.00 RPS6KA3 6197 genome.wustl.edu 37 X 20185772 20185772 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 20185772 20185772 C T SNP RPS6KA3 ENST00000379565 human ensembl 70_37 -1 known missense c.1537 p.E513K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 75 16 17.58 74 0 0.00 RPS6KA4 8986 genome.wustl.edu 37 11 64127764 64127764 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64127764 64127764 G A SNP RPS6KA4 ENST00000334205 human ensembl 70_37 +1 known missense c.257 p.R86H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA4 HGNC ENSG00000162302 7 3 30.00 14 0 0.00 RPS6KA5 9252 genome.wustl.edu 37 14 91340105 91340105 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 91340105 91340105 T G SNP RPS6KA5 ENST00000261991 human ensembl 70_37 -1 known missense c.2031 p.K677N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC ENSG00000100784 10 8 44.44 32 0 0.00 RPS6KA5 9252 genome.wustl.edu 37 14 91413850 91413850 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 91413850 91413850 C G SNP RPS6KA5 ENST00000261991 human ensembl 70_37 -1 known missense c.439 p.E147Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC ENSG00000100784 10 9 47.37 28 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83320049 83320049 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 83320049 83320049 G A SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.2042 p.S681L 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 81 14 14.74 56 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83351215 83351215 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 83351215 83351215 G A SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1958 p.S653L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 65 11 14.47 60 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83351282 83351282 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 83351282 83351282 C G SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1891 p.E631Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 94 29 23.58 125 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83357098 83357098 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 83357098 83357098 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1723 p.E575K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 36 19 34.55 92 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83362646 83362646 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 83362646 83362646 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1096 p.A366T 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 57 39 40.62 140 0 0.00 RPS6KA6 27330 genome.wustl.edu 37 X 83372122 83372122 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad X 83372122 83372122 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.895 p.E299K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC ENSG00000072133 33 18 35.29 60 0 0.00 RPS6KB1 6198 genome.wustl.edu 37 17 58011881 58011881 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 58011881 58011881 G A SNP RPS6KB1 ENST00000225577 human ensembl 70_37 +1 known missense c.866 p.G289E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB1 HGNC ENSG00000108443 23 25 52.08 40 0 0.00 RPS6KB2 6199 genome.wustl.edu 37 11 67200648 67200648 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 67200648 67200648 G A SNP RPS6KB2 ENST00000312629 human ensembl 70_37 +1 known nonsense c.759 p.W253* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB2 HGNC ENSG00000175634 51 29 36.25 94 0 0.00 RPS6KB2 6199 genome.wustl.edu 37 11 67200801 67200801 + RNA SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 67200801 67200801 C A SNP RPS6KB2 ENST00000526268 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors RPS6KB2 HGNC ENSG00000175634 41 33 44.59 72 0 0.00 RPS6KB2 6199 genome.wustl.edu 37 11 67202296 67202296 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 67202296 67202296 C T SNP RPS6KB2 ENST00000531765 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RPS6KB2 HGNC ENSG00000175634 23 8 25.81 52 0 0.00 RPS6KB2 6199 genome.wustl.edu 37 11 67202364 67202364 + RNA SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67202364 67202364 C A SNP RPS6KB2 ENST00000531765 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RPS6KB2 HGNC ENSG00000175634 147 49 25.00 200 0 0.00 RPS6KC1 26750 genome.wustl.edu 37 1 213251114 213251114 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 213251114 213251114 G A SNP RPS6KC1 ENST00000366960 human ensembl 70_37 +1 known missense c.218 p.R73Q 0.998 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors RPS6KC1 HGNC ENSG00000136643 14 15 51.72 61 0 0.00 RPS6KC1 26750 genome.wustl.edu 37 1 213414589 213414589 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 213414589 213414589 C T SNP RPS6KC1 ENST00000366960 human ensembl 70_37 +1 known silent c.1770 p.L590 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors RPS6KC1 HGNC ENSG00000136643 9 7 43.75 26 0 0.00 RPS6KC1 26750 genome.wustl.edu 37 1 213446676 213446676 + RNA SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 213446676 213446676 C T SNP RPS6KC1 ENST00000490299 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RPS6KC1 HGNC ENSG00000136643 39 69 63.89 56 0 0.00 RPS6KC1 26750 genome.wustl.edu 37 1 213446895 213446895 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 213446895 213446895 C G SNP RPS6KC1 ENST00000490299 human ensembl 70_37 +1 known rna NULL NULL 0.065 - - - no_errors RPS6KC1 HGNC ENSG00000136643 38 7 15.56 33 0 0.00 RPS6KL1 83694 genome.wustl.edu 37 14 75376458 75376458 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 75376458 75376458 C T SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known missense c.1058 p.G353D 0.179 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC ENSG00000198208 36 23 38.98 55 0 0.00 RPS6KL1 83694 genome.wustl.edu 37 14 75376468 75376468 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 75376468 75376468 C T SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known missense c.1048 p.E350K 0.187 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC ENSG00000198208 40 27 40.30 67 0 0.00 RPS6KL1 83694 genome.wustl.edu 37 14 75377988 75377988 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75377988 75377988 G A SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known silent c.627 p.S209 0.718 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC ENSG00000198208 27 4 12.90 32 0 0.00 RPS7 6201 genome.wustl.edu 37 2 3623257 3623257 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 3623257 3623257 G C SNP RPS7 ENST00000304921 human ensembl 70_37 +1 known missense c.58 p.E20Q 1.000 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC ENSG00000171863 52 11 17.46 43 0 0.00 RPS9 6203 genome.wustl.edu 37 19 54711421 54711421 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54711421 54711421 G C SNP RPS9 ENST00000302907 human ensembl 70_37 +1 known missense c.563 p.G188A 0.418 NULL pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 26 9 25.71 23 0 0.00 RPSAP58 388524 genome.wustl.edu 37 19 24010138 24010138 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 24010138 24010138 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known silent c.175 p.L59 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 17 4 19.05 24 0 0.00 RPSAP58 388524 genome.wustl.edu 37 19 24010572 24010572 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 24010572 24010572 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known silent c.609 p.F203 1.000 tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 32 4 11.11 46 0 0.00 RPSAP58 388524 genome.wustl.edu 37 19 24010639 24010639 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 24010639 24010639 G A SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known missense c.676 p.E226K 1.000 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 14 11 44.00 29 0 0.00 RPSAP58 388524 genome.wustl.edu 37 19 24010669 24010669 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 24010669 24010669 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known missense c.706 p.P236S 0.816 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 9 9 50.00 18 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78518703 78518703 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 78518703 78518703 G C SNP RPTOR ENST00000577161 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPTOR HGNC ENSG00000141564 37 10 21.28 54 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78681708 78681708 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 78681708 78681708 G A SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.416 p.R139H 0.906 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 45 18 28.57 67 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78796982 78796982 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78796982 78796982 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known silent c.1095 p.V365 1.000 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 8 21 72.41 67 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78796986 78796986 + Missense_Mutation SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 78796986 78796986 A T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1099 p.S367C 1.000 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 18 15 44.12 53 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78857241 78857241 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 78857241 78857241 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1607 p.A536V 0.893 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 30 44 59.46 59 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78858868 78858868 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78858868 78858868 G A SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1903 p.D635N 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 46 26 35.62 78 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78866583 78866583 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 78866583 78866583 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.2156 p.S719F 0.992 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 7 12 63.16 30 0 0.00 RPTOR 57521 genome.wustl.edu 37 17 78939906 78939906 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 78939906 78939906 G A SNP RPTOR ENST00000575542 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RPTOR HGNC ENSG00000141564 17 16 45.71 21 0 0.00 RPUSD2 27079 genome.wustl.edu 37 15 40864067 40864067 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 40864067 40864067 G C SNP RPUSD2 ENST00000315616 human ensembl 70_37 +1 known missense c.871 p.E291Q 0.905 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 3 13 81.25 36 0 0.00 RPUSD2 27079 genome.wustl.edu 37 15 40865974 40865974 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40865974 40865974 C G SNP RPUSD2 ENST00000315616 human ensembl 70_37 +1 known silent c.1152 p.L384 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 29 5 14.71 44 0 0.00 RPUSD3 285367 genome.wustl.edu 37 3 9879801 9879801 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9879801 9879801 G C SNP RPUSD3 ENST00000383820 human ensembl 70_37 -1 known missense c.955 p.L319V 0.913 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC ENSG00000156990 41 18 30.51 60 0 0.00 RPUSD3 285367 genome.wustl.edu 37 3 9882239 9882239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9882239 9882239 C G SNP RPUSD3 ENST00000383820 human ensembl 70_37 -1 known missense c.577 p.E193Q 0.264 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC ENSG00000156990 17 11 37.93 31 0 0.00 RPUSD3 285367 genome.wustl.edu 37 3 9885374 9885374 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 9885374 9885374 G A SNP RPUSD3 ENST00000473522 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPUSD3 HGNC ENSG00000156990 10 38 79.17 48 0 0.00 RPUSD4 84881 genome.wustl.edu 37 11 126081456 126081456 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 126081456 126081456 G A SNP RPUSD4 ENST00000298317 human ensembl 70_37 -1 known silent c.78 p.L26 0.000 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 124 27 17.88 147 0 0.00 RQCD1 9125 genome.wustl.edu 37 2 219445325 219445325 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 219445325 219445325 C G SNP RQCD1 ENST00000509807 human ensembl 70_37 +1 known missense c.66 p.I22M 1.000 NULL pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC ENSG00000144580 15 75 83.33 127 0 0.00 RRAD 6236 genome.wustl.edu 37 16 66956094 66956094 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 66956094 66956094 C T SNP RRAD ENST00000299759 human ensembl 70_37 -1 known missense c.812 p.R271Q 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 67 9 11.84 53 0 0.00 RRAD 6236 genome.wustl.edu 37 16 66957536 66957536 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 66957536 66957536 C G SNP RRAD ENST00000299759 human ensembl 70_37 -1 known missense c.532 p.E178Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 27 16 37.21 55 0 0.00 RRAGC 64121 genome.wustl.edu 37 1 39318163 39318163 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 39318163 39318163 G A SNP RRAGC ENST00000496778 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RRAGC HGNC ENSG00000116954 148 137 47.57 211 0 0.00 RRAS 6237 genome.wustl.edu 37 19 50139083 50139083 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50139083 50139083 G A SNP RRAS ENST00000246792 human ensembl 70_37 -1 known silent c.480 p.F160 0.006 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC ENSG00000126458 31 9 22.50 24 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17596576 17596576 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 17596576 17596576 C G SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.3946 p.E1316Q 0.998 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 49 8 14.04 58 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17596583 17596583 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 20 17596583 17596583 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known silent c.3939 p.A1313 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 49 8 14.04 33 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17606199 17606199 + Silent SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 17606199 17606199 G T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known silent c.3012 p.I1004 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 17 3 15.00 32 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17622492 17622492 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 17622492 17622492 C T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.2134 p.E712K 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 34 40 54.05 49 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17639306 17639306 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 17639306 17639306 G T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.1847 p.P616Q 0.971 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 36 4 10.00 35 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17639699 17639699 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 17639699 17639699 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.1454 p.A485V 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 228 40 14.93 303 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17640216 17640216 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 17640216 17640216 C T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.937 p.E313K 0.004 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 201 56 21.79 178 0 0.00 RRBP1 6238 genome.wustl.edu 37 20 17640441 17640441 + Nonsense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 20 17640441 17640441 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known nonsense c.712 p.Q238* 0.872 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 84 53 38.69 136 0 0.00 RREB1 6239 genome.wustl.edu 37 6 7182252 7182252 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 7182252 7182252 C A SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known missense c.108 p.S36R 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 33 24 40.00 46 0 0.00 RREB1 6239 genome.wustl.edu 37 6 7189489 7189489 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 7189489 7189489 C G SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known missense c.359 p.S120C 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 29 22 43.14 28 0 0.00 RREB1 6239 genome.wustl.edu 37 6 7229752 7229752 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 7229752 7229752 C T SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known silent c.1420 p.L474 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 30 11 26.83 20 0 0.00 RRH 10692 genome.wustl.edu 37 4 110758730 110758730 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 110758730 110758730 G A SNP RRH ENST00000317735 human ensembl 70_37 +1 known missense c.689 p.R230K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 30 11 26.83 35 0 0.00 RRH 10692 genome.wustl.edu 37 4 110765315 110765315 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 110765315 110765315 G C SNP RRH ENST00000317735 human ensembl 70_37 +1 known missense c.976 p.D326H 0.970 prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 114 15 11.54 184 0 0.00 RRM1 6240 genome.wustl.edu 37 11 4116010 4116010 + RNA SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 4116010 4116010 C A SNP RRM1 ENST00000532710 human ensembl 70_37 +1 known rna NULL NULL 0.866 - - - no_errors RRM1 HGNC ENSG00000167325 6 4 40.00 9 0 0.00 RRM1 6240 genome.wustl.edu 37 11 4142936 4142936 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 4142936 4142936 G T SNP RRM1 ENST00000300738 human ensembl 70_37 +1 known missense c.979 p.D327Y 1.000 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 33 13 28.26 56 0 0.00 RRM1 6240 genome.wustl.edu 37 11 4159525 4159525 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 4159525 4159525 C G SNP RRM1 ENST00000300738 human ensembl 70_37 +1 known nonsense c.2291 p.S764* 0.103 NULL pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 30 14 31.11 35 0 0.00 RRM2 6241 genome.wustl.edu 37 2 10263000 10263000 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 10263000 10263000 C T SNP RRM2 ENST00000360566 human ensembl 70_37 +1 known silent c.255 p.L85 0.004 NULL pfam_RNR_small,superfamily_Ferritin/RNR-like - no_errors RRM2 HGNC ENSG00000171848 3 7 70.00 12 0 0.00 RRM2 6241 genome.wustl.edu 37 2 10263582 10263582 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 10263582 10263582 C T SNP RRM2 ENST00000360566 human ensembl 70_37 +1 known silent c.423 p.V141 0.999 pfam_RNR_small,superfamily_Ferritin/RNR-like pfam_RNR_small,superfamily_Ferritin/RNR-like - no_errors RRM2 HGNC ENSG00000171848 63 19 23.17 56 0 0.00 RRM2B 50484 genome.wustl.edu 37 8 103226329 103226329 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 103226329 103226329 C T SNP RRM2B ENST00000251810 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 pfam_RNR_small,superfamily_Ferritin/RNR-like pfam_RNR_small,superfamily_Ferritin/RNR-like - no_errors RRM2B HGNC ENSG00000048392 34 16 32.00 54 0 0.00 RRN3 54700 genome.wustl.edu 37 16 15155747 15155747 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 15155747 15155747 C A SNP RRN3 ENST00000198767 human ensembl 70_37 -1 known nonsense c.1810 p.E604* 1.000 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 106 34 24.11 109 1 0.91 RRN3 54700 genome.wustl.edu 37 16 15188041 15188041 + Nonsense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 15188041 15188041 G T SNP RRN3 ENST00000198767 human ensembl 70_37 -1 known nonsense c.50 p.S17* 0.004 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 86 45 34.09 121 0 0.00 RRN3P1 730092 genome.wustl.edu 37 16 21812093 21812093 + RNA SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 21812093 21812093 G T SNP RRN3P1 ENST00000546471 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 113 24 17.52 151 1 0.66 RRN3P1 730092 genome.wustl.edu 37 16 21817457 21817457 + RNA SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 16 21817457 21817457 G A SNP RRN3P1 ENST00000546471 human ensembl 70_37 -1 known rna NULL NULL 0.981 - - - no_errors RRN3P1 HGNC ENSG00000248124 33 7 17.50 18 0 0.00 RRN3P1 730092 genome.wustl.edu 37 16 21823710 21823710 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21823710 21823710 T G SNP RRN3P1 ENST00000551681 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RRN3P1 HGNC ENSG00000248124 49 16 24.62 124 0 0.00 RRN3P2 653390 genome.wustl.edu 37 16 29088021 29088021 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 29088021 29088021 C T SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors RRN3P2 HGNC ENSG00000103472 95 83 46.63 169 0 0.00 RRN3P2 653390 genome.wustl.edu 37 16 29102154 29102154 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 29102154 29102154 T C SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RRN3P2 HGNC ENSG00000103472 12 4 25.00 15 0 0.00 RRN3P2 653390 genome.wustl.edu 37 16 29113431 29113431 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 29113431 29113431 C T SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RRN3P2 HGNC ENSG00000103472 50 36 41.86 65 0 0.00 RRNAD1 51093 genome.wustl.edu 37 1 156704179 156704179 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 156704179 156704179 C G SNP RRNAD1 ENST00000368216 human ensembl 70_37 +1 known missense c.1015 p.H339D 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 64 10 13.51 56 0 0.00 RRNAD1 51093 genome.wustl.edu 37 1 156705540 156705540 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 156705540 156705540 G A SNP RRNAD1 ENST00000368216 human ensembl 70_37 +1 known missense c.1145 p.R382Q 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 36 39 52.00 30 0 0.00 RRNAD1 51093 genome.wustl.edu 37 1 156706166 156706166 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 156706166 156706166 C T SNP RRNAD1 ENST00000481920 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors RRNAD1 HGNC ENSG00000143303 57 39 40.21 31 0 0.00 RRNAD1 51093 genome.wustl.edu 37 1 156706681 156706681 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 156706681 156706681 C T SNP RRNAD1 ENST00000481920 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors RRNAD1 HGNC ENSG00000143303 14 10 41.67 18 0 0.00 RRP1 8568 genome.wustl.edu 37 21 45215091 45215091 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 21 45215091 45215091 G A SNP RRP1 ENST00000497547 human ensembl 70_37 +1 known missense c.382 p.E128K 0.993 pfam_Nop52 pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 33 20 37.74 48 0 0.00 RRP12 23223 genome.wustl.edu 37 10 99125952 99125952 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 99125952 99125952 G C SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.3430 p.H1144D 1.000 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 44 14 24.14 44 0 0.00 RRP12 23223 genome.wustl.edu 37 10 99129987 99129987 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 99129987 99129987 C A SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.2734 p.G912C 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 35 4 10.26 61 0 0.00 RRP12 23223 genome.wustl.edu 37 10 99132923 99132923 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 99132923 99132923 C G SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.2061 p.K687N 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 19 12 38.71 41 0 0.00 RRP12 23223 genome.wustl.edu 37 10 99160214 99160214 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 99160214 99160214 C T SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.217 p.E73K 0.515 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 161 42 20.69 236 0 0.00 RRP15 51018 genome.wustl.edu 37 1 218458788 218458788 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 218458788 218458788 G C SNP RRP15 ENST00000366932 human ensembl 70_37 +1 known missense c.130 p.D44H 0.001 NULL pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 25 21 45.65 63 0 0.00 RRP15 51018 genome.wustl.edu 37 1 218475649 218475649 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 218475649 218475649 G A SNP RRP15 ENST00000366932 human ensembl 70_37 +1 known silent c.153 p.S51 0.000 NULL pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 5 18 78.26 36 0 0.00 RRP1B 23076 genome.wustl.edu 37 21 45092192 45092192 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 21 45092192 45092192 G C SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.217 p.E73Q 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 36 10 21.74 54 0 0.00 RRP1B 23076 genome.wustl.edu 37 21 45094547 45094547 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45094547 45094547 G A SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.388 p.E130K 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 34 11 24.44 43 0 0.00 RRP1B 23076 genome.wustl.edu 37 21 45094945 45094945 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45094945 45094945 G C SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.450 p.M150I 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 22 3 12.00 37 0 0.00 RRP1B 23076 genome.wustl.edu 37 21 45103223 45103223 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 45103223 45103223 G T SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.860 p.G287V 0.001 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 15 6 28.57 18 0 0.00 RRP1B 23076 genome.wustl.edu 37 21 45104458 45104458 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 45104458 45104458 C T SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known nonsense c.916 p.R306* 0.993 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 96 55 35.95 173 0 0.00 RRP7B 91695 genome.wustl.edu 37 22 42970720 42970720 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 42970720 42970720 C G SNP RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RRP7B HGNC ENSG00000182841 49 49 50.00 79 0 0.00 RRP7B 91695 genome.wustl.edu 37 22 42971969 42971970 + RNA INS - - AGA TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 42971969 42971970 - AGA INS RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors RRP7B HGNC ENSG00000182841 17 3 15.00 33 0 0.00 RRP7B 91695 genome.wustl.edu 37 22 42977984 42977984 + RNA SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 42977984 42977984 G T SNP RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RRP7B HGNC ENSG00000182841 12 4 25.00 9 0 0.00 RRP9 9136 genome.wustl.edu 37 3 51967558 51967558 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 51967558 51967558 G T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known silent c.1392 p.L464 0.990 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 29 17 36.96 38 0 0.00 RRP9 9136 genome.wustl.edu 37 3 51969651 51969651 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 51969651 51969651 C T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known missense c.793 p.V265M 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 49 9 15.52 85 0 0.00 RRP9 9136 genome.wustl.edu 37 3 51970552 51970552 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 51970552 51970552 C T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known silent c.537 p.R179 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 33 20 37.74 38 0 0.00 RRS1 23212 genome.wustl.edu 37 8 67342188 67342188 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 67342188 67342188 C T SNP RRS1 ENST00000320270 human ensembl 70_37 +1 known silent c.822 p.V274 0.995 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 26 9 25.71 28 0 0.00 RRS1 23212 genome.wustl.edu 37 8 67342458 67342458 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67342458 67342458 G A SNP RRS1 ENST00000320270 human ensembl 70_37 +1 known silent c.1092 p.R364 0.976 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 17 3 15.00 34 0 0.00 RS1 6247 genome.wustl.edu 37 X 18660271 18660271 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 18660271 18660271 G C SNP RS1 ENST00000379984 human ensembl 70_37 -1 known missense c.528 p.F176L 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 43 35 44.87 48 0 0.00 RS1 6247 genome.wustl.edu 37 X 18662565 18662565 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 18662565 18662565 C T SNP RS1 ENST00000379984 human ensembl 70_37 -1 known silent c.507 p.Q169 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 86 35 28.93 151 0 0.00 RS1 6247 genome.wustl.edu 37 X 18662593 18662593 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 18662593 18662593 C T SNP RS1 ENST00000379984 human ensembl 70_37 -1 known missense c.479 p.R160H 0.979 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 247 145 36.99 295 0 0.00 RSAD1 55316 genome.wustl.edu 37 17 48559580 48559580 + Silent SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 17 48559580 48559580 G A SNP RSAD1 ENST00000258955 human ensembl 70_37 +1 known silent c.603 p.P201 0.005 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 60 23 27.71 71 0 0.00 RSAD2 91543 genome.wustl.edu 37 2 7033825 7033825 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 7033825 7033825 G C SNP RSAD2 ENST00000382040 human ensembl 70_37 +1 known silent c.912 p.L304 1.000 NULL pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC ENSG00000134321 32 12 27.27 40 0 0.00 RSAD2 91543 genome.wustl.edu 37 2 7036006 7036006 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 7036006 7036006 A G SNP RSAD2 ENST00000382040 human ensembl 70_37 +1 known missense c.1019 p.E340G 1.000 NULL pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC ENSG00000134321 22 22 50.00 78 0 0.00 RSBN1 54665 genome.wustl.edu 37 1 114308986 114308986 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 114308986 114308986 G C SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.2025 p.I675M 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 22 4 15.38 23 0 0.00 RSBN1 54665 genome.wustl.edu 37 1 114311001 114311001 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 114311001 114311001 C T SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 45 18 28.57 63 0 0.00 RSBN1 54665 genome.wustl.edu 37 1 114340197 114340197 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114340197 114340197 C G SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.1165 p.E389Q 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 32 8 20.00 31 0 0.00 RSBN1L 222194 genome.wustl.edu 37 7 77325884 77325884 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 77325884 77325884 C T SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known missense c.98 p.S33F 0.180 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 16 5 23.81 26 0 0.00 RSBN1L 222194 genome.wustl.edu 37 7 77326009 77326009 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 77326009 77326009 C T SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known missense c.223 p.P75S 0.642 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 37 15 28.85 47 0 0.00 RSBN1L 222194 genome.wustl.edu 37 7 77326305 77326305 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 7 77326305 77326305 C T SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known silent c.519 p.L173 0.929 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 45 10 18.18 57 0 0.00 RSBN1L-AS1 100505854 genome.wustl.edu 37 7 77313371 77313371 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 77313371 77313371 C T SNP RSBN1L-AS1 ENST00000416650 human ensembl 70_37 -1 putative rna NULL NULL 0.074 - - - no_errors RSBN1L-AS1 HGNC ENSG00000214293 31 19 38.00 43 0 0.00 RSF1 51773 genome.wustl.edu 37 11 77378488 77378488 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 77378488 77378488 G C SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known nonsense c.3800 p.S1267* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 10 44 81.48 70 0 0.00 RSF1 51773 genome.wustl.edu 37 11 77412845 77412845 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 77412845 77412845 C T SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known missense c.1429 p.D477N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 66 29 30.53 59 0 0.00 RSF1 51773 genome.wustl.edu 37 11 77436745 77436745 + Splice_Site SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 77436745 77436745 C G SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known splice_site c.579-1 e5-1 1.000 - - - no_errors RSF1 HGNC ENSG00000048649 85 16 15.69 42 0 0.00 RSF1 51773 genome.wustl.edu 37 11 77458164 77458164 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 77458164 77458164 C G SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known missense c.289 p.E97Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 21 4 16.00 36 0 0.00 RSG1 79363 genome.wustl.edu 37 1 16558560 16558560 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16558560 16558560 C G SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.760 p.E254Q 0.140 NULL pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 15 59 79.73 78 0 0.00 RSG1 79363 genome.wustl.edu 37 1 16558560 16558560 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 16558560 16558560 C T SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.760 p.E254K 0.140 NULL pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 60 33 35.48 50 0 0.00 RSG1 79363 genome.wustl.edu 37 1 16558761 16558761 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16558761 16558761 C T SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.559 p.E187K 0.999 pfam_Small_GTPase pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 30 8 21.05 44 0 0.00 RSL24D1 51187 genome.wustl.edu 37 15 55489063 55489063 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 55489063 55489063 C G SNP RSL24D1 ENST00000260443 human ensembl 70_37 -1 known missense c.26 p.C9S 1.000 pfam_Ribosomal_L24e_rel,smart_TRASH pfam_Ribosomal_L24e_rel,smart_TRASH - no_errors RSL24D1 HGNC ENSG00000137876 18 19 51.35 24 0 0.00 RSPH1 89765 genome.wustl.edu 37 21 43912934 43912934 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43912934 43912934 C G SNP RSPH1 ENST00000291536 human ensembl 70_37 -1 known missense c.208 p.E70Q 0.999 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 40 13 24.53 48 0 0.00 RSPH10B 222967 genome.wustl.edu 37 7 5967906 5967906 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 5967906 5967906 C G SNP RSPH10B ENST00000337579 human ensembl 70_37 -1 known missense c.2353 p.E785Q 1.000 NULL pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 177 40 18.35 318 0 0.00 RSPH10B2 728194 genome.wustl.edu 37 7 6797357 6797357 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 6797357 6797357 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.49 p.R17C 0.965 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 14 10 41.67 21 0 0.00 RSPH10B2 728194 genome.wustl.edu 37 7 6798735 6798735 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 6798735 6798735 G A SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.275 p.R92H 0.378 pfam_MORN pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 7 5 41.67 8 0 0.00 RSPH10B2 728194 genome.wustl.edu 37 7 6820458 6820458 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 6820458 6820458 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known silent c.1548 p.L516 0.989 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 46 22 32.35 69 0 0.00 RSPH10B2 728194 genome.wustl.edu 37 7 6825630 6825630 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 6825630 6825630 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known silent c.1809 p.V603 0.950 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 24 8 25.00 17 0 0.00 RSPH10B2 728194 genome.wustl.edu 37 7 6836318 6836318 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 6836318 6836318 G C SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.2353 p.E785Q 0.943 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 4 8 66.67 19 0 0.00 RSPH3 83861 genome.wustl.edu 37 6 159403702 159403702 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 159403702 159403702 C G SNP RSPH3 ENST00000252655 human ensembl 70_37 -1 known missense c.937 p.E313Q 0.992 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 24 6 20.00 36 0 0.00 RSPH4A 345895 genome.wustl.edu 37 6 116938064 116938064 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 116938064 116938064 C G SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.278 p.S93C 0.000 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 18 5 21.74 24 0 0.00 RSPH4A 345895 genome.wustl.edu 37 6 116943980 116943980 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 116943980 116943980 G A SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.736 p.E246K 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 13 7 35.00 15 0 0.00 RSPH4A 345895 genome.wustl.edu 37 6 116953401 116953401 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 116953401 116953401 C T SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.1948 p.H650Y 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 9 9 50.00 36 0 0.00 RSPH6A 81492 genome.wustl.edu 37 19 46305454 46305454 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 46305454 46305454 C G SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1722 p.E574D 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 67 22 24.72 46 0 0.00 RSPH6A 81492 genome.wustl.edu 37 19 46307553 46307553 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 46307553 46307553 G C SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1610 p.S537C 0.995 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 83 25 23.15 125 0 0.00 RSPH6A 81492 genome.wustl.edu 37 19 46307697 46307697 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 46307697 46307697 G C SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1466 p.S489W 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 42 5 10.64 66 0 0.00 RSPH6A 81492 genome.wustl.edu 37 19 46313965 46313965 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 46313965 46313965 C T SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.784 p.D262N 0.995 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 135 16 10.60 49 0 0.00 RSPO2 340419 genome.wustl.edu 37 8 108913363 108913363 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 108913363 108913363 C T SNP RSPO2 ENST00000276659 human ensembl 70_37 -1 known silent c.672 p.L224 1.000 NULL superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 33 24 41.38 32 0 0.00 RSPO2 340419 genome.wustl.edu 37 8 109094785 109094785 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 109094785 109094785 G A SNP RSPO2 ENST00000276659 human ensembl 70_37 -1 known missense c.82 p.R28C 1.000 superfamily_Growth_fac_rcpt superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 98 19 16.24 67 0 0.00 RSPO3 84870 genome.wustl.edu 37 6 127469843 127469843 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 127469843 127469843 G C SNP RSPO3 ENST00000368317 human ensembl 70_37 +1 known missense c.148 p.D50H 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 107 26 19.55 138 0 0.00 RSPRY1 89970 genome.wustl.edu 37 16 57238640 57238640 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57238640 57238640 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.70 p.E24K 0.996 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 30 28 48.28 42 0 0.00 RSPRY1 89970 genome.wustl.edu 37 16 57254652 57254652 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 57254652 57254652 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 42 6 12.00 40 0 0.00 RSPRY1 89970 genome.wustl.edu 37 16 57264655 57264655 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 57264655 57264655 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.1306 p.E436K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 20 3 13.04 17 0 0.00 RSRC1 51319 genome.wustl.edu 37 3 157920935 157920935 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 157920935 157920935 G A SNP RSRC1 ENST00000295930 human ensembl 70_37 +1 known missense c.395 p.R132Q 0.031 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 21 6 22.22 19 0 0.00 RSRC2 65117 genome.wustl.edu 37 12 122995725 122995725 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 122995725 122995725 C A SNP RSRC2 ENST00000331738 human ensembl 70_37 -1 known missense c.736 p.A246S 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 31 4 11.43 42 0 0.00 RTBDN 83546 genome.wustl.edu 37 19 12936535 12936535 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12936535 12936535 G A SNP RTBDN ENST00000322912 human ensembl 70_37 -1 known silent c.771 p.S257 1.000 NULL pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 22 15 40.54 23 0 0.00 RTBDN 83546 genome.wustl.edu 37 19 12936680 12936680 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 12936680 12936680 C T SNP RTBDN ENST00000322912 human ensembl 70_37 -1 known missense c.626 p.G209E 0.071 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 68 16 19.05 55 0 0.00 RTDR1 27156 genome.wustl.edu 37 22 23478486 23478486 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 23478486 23478486 C T SNP RTDR1 ENST00000406876 human ensembl 70_37 -1 putative silent c.326 p.*109 0.021 NULL superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 73 25 25.51 83 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62293291 62293291 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62293291 62293291 C G SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known silent c.390 p.S130 0.826 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 59 11 15.71 43 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62319733 62319733 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 62319733 62319733 C A SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.1716 p.F572L 1.000 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 52 21 28.77 35 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62320895 62320895 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 62320895 62320895 G T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.1919 p.G640V 0.846 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 80 29 26.36 103 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62321665 62321665 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62321665 62321665 C T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.2284 p.R762W 0.002 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 55 14 20.29 28 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62324337 62324337 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 62324337 62324337 G A SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known silent c.2832 p.K944 0.916 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 50 27 35.06 65 0 0.00 RTEL1 51750 genome.wustl.edu 37 20 62326563 62326563 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 62326563 62326563 C T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.3488 p.A1163V 0.001 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 43 28 36.84 26 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41745177 41745177 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 15 41745177 41745177 G T SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.388 p.A130S 0.953 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 32 6 15.79 25 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41750013 41750013 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750013 41750013 G A SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 53 51 49.04 80 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41750014 41750014 + Missense_Mutation SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750014 41750014 A T SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.602 p.E201V 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 54 50 48.08 80 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41750066 41750066 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750066 41750066 G C SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.654 p.L218F 0.993 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 50 40 44.44 80 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41766883 41766883 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41766883 41766883 C G SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.1269 p.N423K 1.000 pfam_Plus-3,smart_Plus3-dom_subgr pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 58 18 23.38 42 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41768712 41768712 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 15 41768712 41768712 G A SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known silent c.1551 p.L517 0.723 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 62 29 31.87 97 0 0.00 RTF1 23168 genome.wustl.edu 37 15 41772871 41772871 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 41772871 41772871 C T SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known nonsense c.2119 p.R707* 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 14 9 39.13 29 0 0.00 RTKN2 219790 genome.wustl.edu 37 10 63944087 63944087 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 63944087 63944087 G T SNP RTKN2 ENST00000395265 human ensembl 70_37 -1 known missense c.1578 p.F526L 0.210 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 45 15 25.00 51 0 0.00 RTKN2 219790 genome.wustl.edu 37 10 63957838 63957838 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 63957838 63957838 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known silent c.1659 p.Q553 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 54 24 30.38 114 0 0.00 RTKN2 219790 genome.wustl.edu 37 10 64022535 64022535 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 64022535 64022535 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 29 11 27.50 36 0 0.00 RTKN2 219790 genome.wustl.edu 37 10 64028352 64028352 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 64028352 64028352 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 15 8 34.78 12 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101347453 101347453 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 101347453 101347453 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.3673 p.V1225I 0.211 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 30 6 16.67 39 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101348185 101348185 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 101348185 101348185 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.2941 p.V981I 0.414 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 25 16 39.02 23 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101348269 101348269 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 101348269 101348269 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.2857 p.D953N 1.000 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 15 18 54.55 39 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101348765 101348765 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 101348765 101348765 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known silent c.2361 p.V787 0.058 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 22 3 12.00 17 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101349520 101349520 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 101349520 101349520 G A SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.1606 p.R536C 0.988 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 27 16 37.21 55 0 0.00 RTL1 388015 genome.wustl.edu 37 14 101350763 101350763 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 101350763 101350763 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.363 p.M121I 0.001 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 64 20 23.81 62 0 0.00 RTN1 6252 genome.wustl.edu 37 14 60074026 60074026 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 60074026 60074026 T G SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.1950 p.K650N 0.999 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 30 4 11.76 40 0 0.00 RTN1 6252 genome.wustl.edu 37 14 60074196 60074196 + Missense_Mutation SNP A A T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 60074196 60074196 A T SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.1780 p.Y594N 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 25 12 32.43 34 0 0.00 RTN1 6252 genome.wustl.edu 37 14 60212537 60212537 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 60212537 60212537 C T SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.904 p.E302K 0.899 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 55 25 31.25 93 0 0.00 RTN1 6252 genome.wustl.edu 37 14 60212576 60212576 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 60212576 60212576 C G SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.865 p.E289Q 0.081 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 45 24 34.78 109 0 0.00 RTN1 6252 genome.wustl.edu 37 14 60212965 60212965 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 14 60212965 60212965 C A SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.476 p.R159L 0.018 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 31 4 11.43 50 0 0.00 RTN2 6253 genome.wustl.edu 37 19 45997562 45997562 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 45997562 45997562 C T SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known missense c.676 p.D226N 0.975 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 21 12 36.36 52 0 0.00 RTN2 6253 genome.wustl.edu 37 19 45997610 45997610 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 45997610 45997610 C A SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known missense c.628 p.G210C 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 70 32 31.37 125 0 0.00 RTN2 6253 genome.wustl.edu 37 19 45997641 45997641 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 45997641 45997641 C T SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known silent c.597 p.S199 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 58 55 48.67 25 0 0.00 RTN2 6253 genome.wustl.edu 37 19 45998373 45998373 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 45998373 45998373 G C SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known nonsense c.59 p.S20* 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 32 11 25.58 51 0 0.00 RTN3 10313 genome.wustl.edu 37 11 63486746 63486746 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63486746 63486746 G A SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.772 p.D258N 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 73 27 27.00 77 0 0.00 RTN3 10313 genome.wustl.edu 37 11 63487457 63487457 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 63487457 63487457 G C SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.1483 p.D495H 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 19 12 38.71 39 0 0.00 RTN3 10313 genome.wustl.edu 37 11 63488091 63488091 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 63488091 63488091 T G SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.2117 p.I706S 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 13 4 23.53 26 0 0.00 RTN3 10313 genome.wustl.edu 37 11 63488456 63488456 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63488456 63488456 G A SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.2482 p.E828K 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 57 15 20.83 45 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55201029 55201029 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 55201029 55201029 C T SNP RTN4 ENST00000485749 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RTN4 HGNC ENSG00000115310 10 14 56.00 26 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55252291 55252291 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 55252291 55252291 G A SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.2944 p.P982S 0.978 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 77 28 26.67 42 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55253040 55253040 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 55253040 55253040 G C SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.2195 p.S732C 0.957 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 76 33 30.28 56 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55253525 55253525 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 55253525 55253525 C G SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.1710 p.K570N 0.505 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 40 18 31.03 53 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55253894 55253894 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 55253894 55253894 G A SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known silent c.1341 p.F447 0.931 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 42 7 14.29 70 0 0.00 RTN4 57142 genome.wustl.edu 37 2 55254364 55254364 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 55254364 55254364 C T SNP RTN4 ENST00000354474 human ensembl 70_37 -1 known splice_site c.176-1 e2-1 0.288 - - - no_errors RTN4 HGNC ENSG00000115310 23 26 53.06 47 0 0.00 RTN4IP1 84816 genome.wustl.edu 37 6 107076725 107076725 + Silent SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 107076725 107076725 G T SNP RTN4IP1 ENST00000369063 human ensembl 70_37 -1 known silent c.172 p.R58 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 15 9 37.50 31 0 0.00 RTN4IP1 84816 genome.wustl.edu 37 6 107076841 107076841 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 107076841 107076841 A G SNP RTN4IP1 ENST00000369063 human ensembl 70_37 -1 known missense c.56 p.F19S 0.278 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 11 2 15.38 24 0 0.00 RTN4RL1 146760 genome.wustl.edu 37 17 1840152 1840152 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 1840152 1840152 C T SNP RTN4RL1 ENST00000331238 human ensembl 70_37 -1 known missense c.964 p.D322N 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 29 17 36.96 65 0 0.00 RTN4RL1 146760 genome.wustl.edu 37 17 1840862 1840862 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 1840862 1840862 G C SNP RTN4RL1 ENST00000331238 human ensembl 70_37 -1 known missense c.254 p.S85W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 71 57 44.53 89 0 0.00 RTN4RL2 349667 genome.wustl.edu 37 11 57235245 57235245 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 57235245 57235245 C G SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known silent c.195 p.L65 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 46 11 19.30 70 0 0.00 RTN4RL2 349667 genome.wustl.edu 37 11 57235468 57235468 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 11 57235468 57235468 C T SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known missense c.418 p.R140C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 45 31 40.79 74 0 0.00 RTN4RL2 349667 genome.wustl.edu 37 11 57244279 57244279 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 57244279 57244279 C T SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known silent c.1158 p.P386 0.883 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 14 25 64.10 28 0 0.00 RTP1 132112 genome.wustl.edu 37 3 186917516 186917516 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 186917516 186917516 C T SNP RTP1 ENST00000312295 human ensembl 70_37 +1 known silent c.450 p.I150 1.000 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 42 16 27.59 58 0 0.00 RTP2 344892 genome.wustl.edu 37 3 187416340 187416340 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 187416340 187416340 G A SNP RTP2 ENST00000358241 human ensembl 70_37 -1 known silent c.624 p.L208 0.926 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 77 25 24.51 56 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67684778 67684778 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 67684778 67684778 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.6286 p.L2096 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 21 15 41.67 56 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67718769 67718769 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 18 67718769 67718769 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known nonsense c.5201 p.S1734* 0.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 6 4 40.00 10 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67727191 67727191 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 67727191 67727191 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.4835 p.S1612F 0.650 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 28 18 39.13 57 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 43 9 17.31 39 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 60 23 27.71 59 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 14 16 53.33 37 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67833312 67833312 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 67833312 67833312 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.1915 p.L639V 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 47 10 17.54 64 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67857917 67857917 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 67857917 67857917 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.1046 p.S349C 0.844 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 45 10 17.86 57 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67860578 67860578 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 67860578 67860578 C G SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.953 p.R318P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 28 7 20.00 51 0 0.00 RTTN 25914 genome.wustl.edu 37 18 67864892 67864892 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 67864892 67864892 C T SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.661 p.E221K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 42 17 28.81 60 0 0.00 RUFY1 80230 genome.wustl.edu 37 5 179013335 179013335 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 179013335 179013335 G C SNP RUFY1 ENST00000377001 human ensembl 70_37 +1 known missense c.1030 p.E344Q 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUFY1 HGNC ENSG00000176783 21 22 51.16 40 0 0.00 RUFY1 80230 genome.wustl.edu 37 5 179021873 179021873 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 179021873 179021873 G C SNP RUFY1 ENST00000319449 human ensembl 70_37 +1 known missense c.1420 p.E474Q 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 31 11 26.19 69 0 0.00 RUFY2 55680 genome.wustl.edu 37 10 70103367 70103367 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 70103367 70103367 C T SNP RUFY2 ENST00000466187 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RUFY2 HGNC ENSG00000204130 36 20 35.71 55 0 0.00 RUFY2 55680 genome.wustl.edu 37 10 70105422 70105422 + RNA SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 70105422 70105422 C A SNP RUFY2 ENST00000466187 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RUFY2 HGNC ENSG00000204130 7 5 41.67 15 0 0.00 RUFY2 55680 genome.wustl.edu 37 10 70139148 70139148 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70139148 70139148 G C SNP RUFY2 ENST00000491118 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RUFY2 HGNC ENSG00000204130 2 5 71.43 16 0 0.00 RUFY3 22902 genome.wustl.edu 37 4 71588332 71588332 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 71588332 71588332 C T SNP RUFY3 ENST00000226328 human ensembl 70_37 +1 known silent c.42 p.T14 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 82 18 18.00 105 0 0.00 RUFY3 22902 genome.wustl.edu 37 4 71656969 71656969 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 71656969 71656969 G T SNP RUFY3 ENST00000226328 human ensembl 70_37 +1 known missense c.1365 p.K455N 1.000 superfamily_Prefoldin pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 20 9 31.03 55 0 0.00 RUFY3 22902 genome.wustl.edu 37 4 71659536 71659536 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 71659536 71659536 G C SNP RUFY3 ENST00000381006 human ensembl 70_37 +1 novel missense c.1372 p.E458Q 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 14 4 22.22 17 0 0.00 RUFY4 285180 genome.wustl.edu 37 2 218938012 218938012 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 218938012 218938012 G T SNP RUFY4 ENST00000374155 human ensembl 70_37 +1 known nonsense c.433 p.E145* 0.001 pfam_Run,smart_Run,pfscan_Run pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC ENSG00000188282 19 18 47.37 42 0 0.00 RUFY4 285180 genome.wustl.edu 37 2 218940282 218940282 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 218940282 218940282 G A SNP RUFY4 ENST00000374155 human ensembl 70_37 +1 known missense c.1127 p.G376E 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC ENSG00000188282 24 6 20.00 30 0 0.00 RUNDC1 146923 genome.wustl.edu 37 17 41142345 41142345 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 41142345 41142345 A G SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known missense c.868 p.S290G 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 22 3 12.00 25 0 0.00 RUNDC1 146923 genome.wustl.edu 37 17 41143001 41143001 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41143001 41143001 G A SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known silent c.1110 p.Q370 0.648 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 47 10 17.54 34 0 0.00 RUNDC1 146923 genome.wustl.edu 37 17 41143037 41143037 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41143037 41143037 G T SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known silent c.1146 p.L382 0.490 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 49 13 20.97 42 0 0.00 RUNDC3A 10900 genome.wustl.edu 37 17 42390802 42390802 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 42390802 42390802 G A SNP RUNDC3A ENST00000426726 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 37 32 46.38 58 0 0.00 RUNDC3A 10900 genome.wustl.edu 37 17 42395476 42395476 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 42395476 42395476 C T SNP RUNDC3A ENST00000426726 human ensembl 70_37 +1 known missense c.1211 p.T404M 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 35 21 37.50 58 0 0.00 RUNX1 861 genome.wustl.edu 37 21 36164595 36164595 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 21 36164595 36164595 C T SNP RUNX1 ENST00000300305 human ensembl 70_37 -1 known missense c.1280 p.R427H 1.000 pfam_RunxI,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 9 6 40.00 14 0 0.00 RUNX1 861 genome.wustl.edu 37 21 36228598 36228598 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 36228598 36228598 C G SNP RUNX1 ENST00000467577 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RUNX1 HGNC ENSG00000159216 14 16 53.33 33 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 92972690 92972690 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 92972690 92972690 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.1628 p.A543V 1.000 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 31 31 50.00 60 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 92982945 92982945 + Nonsense_Mutation SNP T T A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 92982945 92982945 T A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.1513 p.K505* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 39 10 20.41 74 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 92983038 92983038 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 92983038 92983038 C T SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.1420 p.E474K 1.000 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 24 64 72.73 55 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 92988170 92988170 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 92988170 92988170 C T SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.1344 p.A448 0.766 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 44 13 22.81 26 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93004062 93004062 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 93004062 93004062 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.829 p.R277* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 41 10 19.61 29 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93004062 93004062 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 93004062 93004062 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.829 p.R277* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 44 8 15.38 117 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93023292 93023292 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 93023292 93023292 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.529 p.H177Y 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 10 15 60.00 20 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93026941 93026941 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 93026941 93026941 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 64 15 18.99 80 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93026984 93026984 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 93026984 93026984 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.324 p.F108 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 20 17 45.95 48 0 0.00 RUNX1T1 862 genome.wustl.edu 37 8 93027008 93027008 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 93027008 93027008 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.300 p.G100 0.876 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 34 24 41.38 57 0 0.00 RUNX2 860 genome.wustl.edu 37 6 45390610 45390610 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 45390610 45390610 C G SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known silent c.543 p.L181 0.988 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 29 15 34.09 19 0 0.00 RUNX2 860 genome.wustl.edu 37 6 45399640 45399640 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 45399640 45399640 C T SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known missense c.668 p.T223I 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 66 34 34.00 108 0 0.00 RUNX2 860 genome.wustl.edu 37 6 45480058 45480058 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 45480058 45480058 C T SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known missense c.1139 p.S380F 1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 28 18 39.13 51 0 0.00 RUNX2 860 genome.wustl.edu 37 6 45480078 45480079 + Frame_Shift_Ins INS - - C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 45480078 45480079 - C INS RUNX2 ENST00000352853 human ensembl 70_37 +1 known frame_shift_ins c.1159_1160 p.L389fs 1.000:1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 24 21 46.67 51 0 0.00 RUNX3 864 genome.wustl.edu 37 1 25228968 25228968 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 25228968 25228968 G A SNP RUNX3 ENST00000338888 human ensembl 70_37 -1 known missense c.935 p.P312L 1.000 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC ENSG00000020633 41 9 18.00 37 0 0.00 RUNX3 864 genome.wustl.edu 37 1 25254140 25254140 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25254140 25254140 G A SNP RUNX3 ENST00000338888 human ensembl 70_37 -1 known missense c.406 p.R136C 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC ENSG00000020633 55 18 24.32 92 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155291885 155291885 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 155291885 155291885 C G SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known missense c.321 p.S107R 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 8 7 46.67 14 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155291887 155291887 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 155291887 155291887 C T SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known missense c.323 p.S108F 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 8 7 46.67 13 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155294395 155294395 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 155294395 155294395 G A SNP RUSC1 ENST00000471876 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RUSC1 HGNC ENSG00000160753 47 9 16.07 35 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155295080 155295080 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 155295080 155295080 G A SNP RUSC1 ENST00000462780 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC ENSG00000160753 34 4 10.53 28 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155296726 155296726 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155296726 155296726 C G SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known silent c.2217 p.V739 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 31 17 35.42 33 0 0.00 RUSC1 23623 genome.wustl.edu 37 1 155300518 155300518 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 155300518 155300518 C G SNP RUSC1 ENST00000462780 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC ENSG00000160753 20 11 35.48 14 0 0.00 RUSC1-AS1 284618 genome.wustl.edu 37 1 155290563 155290563 + RNA DEL A A - TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 155290563 155290563 A - DEL RUSC1-AS1 ENST00000450199 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 4 2 33.33 11 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35546762 35546762 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 35546762 35546762 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.244 p.D82N 0.989 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 11 4 26.67 32 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35546837 35546837 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 35546837 35546837 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 35 11 23.91 58 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35548064 35548064 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 35548064 35548064 C T SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.1546 p.R516C 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 23 7 23.33 30 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35548154 35548154 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 35548154 35548154 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.1636 p.E546K 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 18 26 59.09 29 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35560361 35560361 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35560361 35560361 G C SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.3724 p.E1242Q 0.995 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 23 15 39.47 34 0 0.00 RUSC2 9853 genome.wustl.edu 37 9 35560823 35560823 + Nonsense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 9 35560823 35560823 C T SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known nonsense c.4186 p.Q1396* 0.068 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 12 11 47.83 19 0 0.00 RUVBL1 8607 genome.wustl.edu 37 3 127816255 127816255 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 127816255 127816255 C T SNP RUVBL1 ENST00000322623 human ensembl 70_37 -1 known missense c.904 p.D302N 1.000 pfam_TIP49_C,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 66 10 12.99 39 0 0.00 RUVBL1 8607 genome.wustl.edu 37 3 127817765 127817765 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 127817765 127817765 C T SNP RUVBL1 ENST00000322623 human ensembl 70_37 -1 known missense c.777 p.M259I 1.000 pfam_TIP49_C,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 46 21 31.34 50 0 0.00 RUVBL2 10856 genome.wustl.edu 37 19 49510586 49510586 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49510586 49510586 G A SNP RUVBL2 ENST00000595090 human ensembl 70_37 +1 known silent c.423 p.E141 1.000 pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 51 6 10.53 49 0 0.00 RUVBL2 10856 genome.wustl.edu 37 19 49518398 49518398 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 49518398 49518398 G C SNP RUVBL2 ENST00000595090 human ensembl 70_37 +1 known silent c.1242 p.R414 1.000 NULL pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 38 21 35.59 71 0 0.00 RWDD2A 112611 genome.wustl.edu 37 6 83904315 83904315 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 6 83904315 83904315 G A SNP RWDD2A ENST00000369724 human ensembl 70_37 +1 known missense c.145 p.E49K 0.675 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 14 31 68.89 71 0 0.00 RWDD2B 10069 genome.wustl.edu 37 21 30391569 30391569 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 30391569 30391569 C G SNP RWDD2B ENST00000493196 human ensembl 70_37 -1 known missense c.30 p.W10C 0.000 NULL pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 45 13 22.41 81 0 0.00 RWDD2B 10069 genome.wustl.edu 37 21 30391662 30391662 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 21 30391662 30391662 G A SNP RWDD2B ENST00000286777 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 6 10 62.50 20 0 0.00 RWDD3 25950 genome.wustl.edu 37 1 95712057 95712057 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 95712057 95712057 C G SNP RWDD3 ENST00000460571 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RWDD3 HGNC ENSG00000122481 10 21 67.74 45 0 0.00 RWDD3 25950 genome.wustl.edu 37 1 95712057 95712057 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 95712057 95712057 C G SNP RWDD3 ENST00000460571 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RWDD3 HGNC ENSG00000122481 37 9 19.57 23 0 0.00 RWDD4 201965 genome.wustl.edu 37 4 184572285 184572285 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 184572285 184572285 C G SNP RWDD4 ENST00000326397 human ensembl 70_37 -1 known splice_site c.216-1 e4-1 1.000 - - - no_errors RWDD4 HGNC ENSG00000182552 41 10 19.61 73 0 0.00 RXFP1 59350 genome.wustl.edu 37 4 159568153 159568153 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 159568153 159568153 G C SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known missense c.1556 p.R519T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC ENSG00000171509 40 6 13.04 38 0 0.00 RXFP1 59350 genome.wustl.edu 37 4 159568311 159568311 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 159568311 159568311 G C SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known missense c.1714 p.E572Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC ENSG00000171509 15 3 16.67 22 0 0.00 RXFP1 59350 genome.wustl.edu 37 4 159573124 159573124 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 159573124 159573124 G A SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known missense c.2191 p.E731K 0.011 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC ENSG00000171509 14 9 39.13 29 0 0.00 RXFP2 122042 genome.wustl.edu 37 13 32367059 32367059 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 32367059 32367059 C T SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known silent c.1620 p.V540 0.203 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC ENSG00000133105 28 58 67.44 79 0 0.00 RXFP2 122042 genome.wustl.edu 37 13 32367085 32367085 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 32367085 32367085 G A SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known missense c.1646 p.G549E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC ENSG00000133105 37 9 19.57 66 0 0.00 RXFP2 122042 genome.wustl.edu 37 13 32371488 32371488 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 32371488 32371488 C G SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known missense c.1937 p.S646C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC ENSG00000133105 132 27 16.98 193 0 0.00 RXFP4 339403 genome.wustl.edu 37 1 155912316 155912316 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155912316 155912316 G A SNP RXFP4 ENST00000368318 human ensembl 70_37 +1 known silent c.816 p.V272 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC ENSG00000173080 56 17 23.29 66 0 0.00 RXRA 6256 genome.wustl.edu 37 9 137300845 137300845 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 137300845 137300845 C T SNP RXRA ENST00000481739 human ensembl 70_37 +1 known missense c.490 p.R164C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 57 25 30.49 94 0 0.00 RXRA 6256 genome.wustl.edu 37 9 137330789 137330789 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 137330789 137330789 C T SNP RXRA ENST00000356384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RXRA HGNC ENSG00000186350 21 11 34.38 27 0 0.00 RXRA 6256 genome.wustl.edu 37 9 137330790 137330790 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 137330790 137330790 G A SNP RXRA ENST00000356384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RXRA HGNC ENSG00000186350 28 18 38.30 29 0 0.00 RXRB 6257 genome.wustl.edu 37 6 33162460 33162460 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 33162460 33162460 C T SNP RXRB ENST00000374680 human ensembl 70_37 -1 known silent c.1601 p.*534 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 30 4 11.76 26 0 0.00 RXRB 6257 genome.wustl.edu 37 6 33163791 33163791 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 33163791 33163791 A C SNP RXRB ENST00000374680 human ensembl 70_37 -1 known missense c.1016 p.I339S 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 38 15 28.30 88 0 0.00 RXRB 6257 genome.wustl.edu 37 6 33164323 33164323 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 33164323 33164323 C T SNP RXRB ENST00000374680 human ensembl 70_37 -1 known missense c.881 p.G294E 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 15 13 46.43 35 0 0.00 RXRB 6257 genome.wustl.edu 37 6 33168158 33168158 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 33168158 33168158 G A SNP RXRB ENST00000413614 human ensembl 70_37 -1 known missense c.56 p.S19L 1.000 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors RXRB HGNC ENSG00000204231 12 10 45.45 13 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38945895 38945895 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 38945895 38945895 G C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.1461 p.L487 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 57 76 57.14 64 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38948806 38948806 + Silent SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 38948806 38948806 T C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.2041 p.L681 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 29 4 12.12 21 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38949865 38949865 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38949865 38949865 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.2247 p.L749 0.885 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 40 11 21.57 36 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38964397 38964397 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 38964397 38964397 G C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.4146 p.K1382N 1.000 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 4 3 42.86 8 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38973965 38973965 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38973965 38973965 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.4743 p.S1581 0.906 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 29 7 19.44 43 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38976785 38976785 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 38976785 38976785 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.5490 p.V1830 0.857 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 154 61 28.37 143 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38976785 38976785 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 38976785 38976785 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.5490 p.V1830 0.857 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 33 10 23.26 28 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38979846 38979846 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 38979846 38979846 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.5577 p.V1859 0.887 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 39 21 35.00 76 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38990352 38990352 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 38990352 38990352 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.7105 p.R2369W 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 24 9 27.27 37 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38990368 38990368 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 38990368 38990368 C G SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known nonsense c.7121 p.S2374* 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 16 10 38.46 47 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38991553 38991553 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38991553 38991553 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.7537 p.E2513K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 59 7 10.61 43 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38991620 38991620 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 38991620 38991620 C A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known nonsense c.7604 p.S2535* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 25 5 16.67 40 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38995470 38995470 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 38995470 38995470 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.8150 p.A2717V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 39 39 50.00 35 0 0.00 RYR1 6261 genome.wustl.edu 37 19 38995490 38995490 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 38995490 38995490 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.8170 p.E2724K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 26 18 40.91 60 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39002929 39002929 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 39002929 39002929 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.9278 p.R3093H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 33 5 13.16 36 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39051944 39051944 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39051944 39051944 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12474 p.R4158 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 13 23 63.89 24 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39051944 39051944 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39051944 39051944 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12474 p.R4158 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 32 20 38.46 73 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39055628 39055628 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39055628 39055628 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12654 p.F4218 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 26 16 38.10 30 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39056336 39056336 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39056336 39056336 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.13362 p.L4454 0.999 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 20 9 31.03 25 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39063838 39063838 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 39063838 39063838 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.14020 p.R4674W 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 52 23 30.67 46 0 0.00 RYR1 6261 genome.wustl.edu 37 19 39063865 39063865 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39063865 39063865 G C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.14047 p.E4683Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 66 16 19.51 44 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237433906 237433906 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 237433906 237433906 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.151 p.P51S 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 70 10 12.50 51 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237532889 237532889 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 237532889 237532889 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.359 p.R120H 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 96 16 14.29 171 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237617847 237617847 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 237617847 237617847 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.1443 p.K481 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 41 31 41.89 53 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237729972 237729972 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 237729972 237729972 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.3314 p.T1105M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 16 8 33.33 43 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237754039 237754039 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 237754039 237754039 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.3901 p.R1301C 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 343 54 13.60 314 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237756843 237756843 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 237756843 237756843 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4337 p.S1446L 0.811 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 58 8 12.12 74 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237758810 237758810 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 237758810 237758810 C A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4443 p.S1481R 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 63 9 12.50 111 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237765394 237765394 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 237765394 237765394 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4660 p.E1554Q 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 45 20 30.77 61 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237774171 237774171 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 237774171 237774171 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4787 p.R1596K 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 20 7 25.93 38 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237777443 237777443 + Missense_Mutation SNP T T A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 237777443 237777443 T A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5009 p.V1670E 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 66 31 31.63 121 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237777446 237777446 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 237777446 237777446 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5012 p.A1671V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 17 15 45.45 52 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237777871 237777871 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 237777871 237777871 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5437 p.E1813K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 19 9 32.14 22 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237780711 237780711 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 237780711 237780711 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.5835 p.V1945 0.050 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 17 9 34.62 18 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237787089 237787089 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 237787089 237787089 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5935 p.D1979N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 50 9 15.25 26 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237789071 237789071 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 237789071 237789071 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.6127 p.E2043Q 0.997 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 75 21 21.88 62 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237811805 237811805 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 237811805 237811805 G T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.7398 p.M2466I 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 50 31 38.27 81 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237819136 237819136 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 237819136 237819136 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.7975 p.L2659F 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 23 14 37.84 20 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237824116 237824116 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237824116 237824116 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8299 p.E2767K 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 13 4 22.22 18 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237838107 237838107 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237838107 237838107 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8785 p.R2929C 0.875 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 42 12 22.22 107 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237841392 237841392 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 237841392 237841392 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8869 p.E2957Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 20 6 23.08 18 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237841392 237841392 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 237841392 237841392 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8869 p.E2957Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 38 11 22.45 31 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237870322 237870322 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 237870322 237870322 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.9648 p.I3216 0.124 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 10 4 28.57 30 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237872193 237872193 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 237872193 237872193 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known nonsense c.9931 p.Q3311* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 33 6 15.38 33 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237880502 237880502 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 237880502 237880502 C A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10322 p.A3441D 0.981 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 37 80 68.38 83 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237886488 237886488 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 237886488 237886488 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10609 p.D3537N 0.997 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 152 22 12.64 107 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237890472 237890472 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 237890472 237890472 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10805 p.R3602Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 123 17 12.06 103 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237905645 237905645 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 237905645 237905645 T C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.11135 p.F3712S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 28 14 33.33 91 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237919656 237919656 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 237919656 237919656 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.11232 p.E3744 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 38 9 19.15 64 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237935342 237935342 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 237935342 237935342 G T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.11606 p.G3869V 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 30 7 18.92 41 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237936946 237936946 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 237936946 237936946 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known nonsense c.11791 p.Q3931* 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 26 4 13.33 45 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237947390 237947390 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 237947390 237947390 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.12396 p.L4132 0.990 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 16 8 33.33 22 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237947564 237947564 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 237947564 237947564 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.12570 p.E4190 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 17 15 46.88 46 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237947567 237947567 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 237947567 237947567 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.12573 p.K4191 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 91 25 21.55 63 0 0.00 RYR2 6262 genome.wustl.edu 37 1 237957284 237957284 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 237957284 237957284 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.13918 p.V4640I 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 27 17 38.64 34 0 0.00 RYR3 6263 genome.wustl.edu 37 15 33872331 33872331 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 33872331 33872331 C G SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.1423 p.L475V 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 15 5 23.81 22 0 0.00 RYR3 6263 genome.wustl.edu 37 15 33927942 33927942 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 33927942 33927942 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.3303 p.V1101 0.003 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 14 6 30.00 31 0 0.00 RYR3 6263 genome.wustl.edu 37 15 33944986 33944986 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 33944986 33944986 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.4210 p.R1404W 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 25 16 39.02 67 0 0.00 RYR3 6263 genome.wustl.edu 37 15 33955938 33955938 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 15 33955938 33955938 G T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.5619 p.Q1873H 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 23 4 14.81 54 0 0.00 RYR3 6263 genome.wustl.edu 37 15 33988603 33988603 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 33988603 33988603 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.6045 p.I2015 0.996 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 106 39 26.90 141 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34021064 34021064 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 34021064 34021064 C A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known nonsense c.7040 p.S2347* 0.868 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 39 5 11.36 73 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34047363 34047363 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 34047363 34047363 G C SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.8497 p.E2833Q 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 4 26 86.67 48 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34080589 34080589 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 34080589 34080589 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.9760 p.E3254K 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 56 12 17.65 41 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34109084 34109084 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 34109084 34109084 C A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.10524 p.F3508L 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 14 10 41.67 19 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34112005 34112005 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 34112005 34112005 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.10755 p.A3585 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 87 23 20.54 61 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34113779 34113779 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 34113779 34113779 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.10971 p.N3657 0.995 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 55 7 11.29 55 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34130203 34130203 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 34130203 34130203 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12022 p.D4008N 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 95 28 22.76 88 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34130561 34130561 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 34130561 34130561 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12380 p.A4127V 0.001 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 36 5 12.20 55 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34131094 34131094 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 34131094 34131094 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12913 p.E4305K 1.000 pfam_Ryanrecept_TM4-6,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 25 16 38.10 24 0 0.00 RYR3 6263 genome.wustl.edu 37 15 34151870 34151870 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 34151870 34151870 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.14237 p.R4746H 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 49 23 31.94 186 1 0.53 S100A1 6271 genome.wustl.edu 37 1 153603994 153603994 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 153603994 153603994 G C SNP S100A1 ENST00000368696 human ensembl 70_37 +1 known missense c.148 p.E50Q 0.000 NULL pfam_S100_Ca-bd_sub - no_errors S100A1 HGNC ENSG00000160678 57 21 26.92 88 0 0.00 S100A1 6271 genome.wustl.edu 37 1 153604234 153604234 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 153604234 153604234 G A SNP S100A1 ENST00000368698 human ensembl 70_37 +1 known missense c.361 p.G121R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A1 HGNC ENSG00000160678 298 224 42.91 581 1 0.17 S100A1 6271 genome.wustl.edu 37 1 153604234 153604234 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 153604234 153604234 G A SNP S100A1 ENST00000368698 human ensembl 70_37 +1 known missense c.361 p.G121R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A1 HGNC ENSG00000160678 31 22 41.51 29 0 0.00 S100A14 57402 genome.wustl.edu 37 1 153588400 153588400 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 153588400 153588400 G C SNP S100A14 ENST00000368700 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors S100A14 HGNC ENSG00000189334 108 19 14.96 131 0 0.00 S100A16 140576 genome.wustl.edu 37 1 153580076 153580076 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153580076 153580076 C G SNP S100A16 ENST00000368703 human ensembl 70_37 -1 known missense c.246 p.L82F 1.000 pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors S100A16 HGNC ENSG00000188643 24 17 41.46 48 0 0.00 S100A3 6274 genome.wustl.edu 37 1 153520280 153520280 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 153520280 153520280 G A SNP S100A3 ENST00000368712 human ensembl 70_37 -1 known silent c.184 p.L62 0.543 NULL pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC ENSG00000188015 26 11 29.73 70 0 0.00 S100A4 6275 genome.wustl.edu 37 1 153516163 153516163 + RNA DEL A A - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 153516163 153516163 A - DEL S100A4 ENST00000468373 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A4 HGNC ENSG00000196154 29 4 12.12 35 0 0.00 S100A4 6275 genome.wustl.edu 37 1 153516163 153516163 + RNA DEL A A - TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 153516163 153516163 A - DEL S100A4 ENST00000468373 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A4 HGNC ENSG00000196154 38 5 11.63 35 0 0.00 S100A9 6280 genome.wustl.edu 37 1 153330788 153330788 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 153330788 153330788 G C SNP S100A9 ENST00000368738 human ensembl 70_37 +1 known missense c.29 p.R10P 0.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A9 HGNC ENSG00000163220 22 19 46.34 37 0 0.00 S100PBP 64766 genome.wustl.edu 37 1 33291767 33291767 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 33291767 33291767 C G SNP S100PBP ENST00000373475 human ensembl 70_37 +1 known missense c.67 p.P23A 0.480 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 66 41 38.32 82 0 0.00 S100PBP 64766 genome.wustl.edu 37 1 33293677 33293677 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33293677 33293677 G C SNP S100PBP ENST00000373475 human ensembl 70_37 +1 known missense c.915 p.K305N 0.833 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 24 20 45.45 32 0 0.00 S1PR1 1901 genome.wustl.edu 37 1 101704600 101704600 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 101704600 101704600 C T SNP S1PR1 ENST00000305352 human ensembl 70_37 +1 known silent c.60 p.V20 1.000 prints_S1P_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 53 10 15.87 63 0 0.00 S1PR1 1901 genome.wustl.edu 37 1 101705515 101705515 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 101705515 101705515 C T SNP S1PR1 ENST00000305352 human ensembl 70_37 +1 known silent c.975 p.I325 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_EDG1_rcpt,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 21 4 16.00 19 0 0.00 S1PR2 9294 genome.wustl.edu 37 19 10333441 10333441 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 10333441 10333441 G T SNP S1PR2 ENST00000317726 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors S1PR2 HGNC ENSG00000175898 38 5 11.63 30 0 0.00 S1PR3 1903 genome.wustl.edu 37 9 91616292 91616292 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 9 91616292 91616292 G T SNP S1PR3 ENST00000358157 human ensembl 70_37 +1 known missense c.177 p.M59I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 24 3 11.11 76 0 0.00 S1PR3 1903 genome.wustl.edu 37 9 91616521 91616521 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 91616521 91616521 C T SNP S1PR3 ENST00000358157 human ensembl 70_37 +1 known missense c.406 p.R136W 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 21 7 25.00 26 0 0.00 S1PR5 53637 genome.wustl.edu 37 19 10625529 10625529 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 10625529 10625529 C T SNP S1PR5 ENST00000333430 human ensembl 70_37 -1 known silent c.159 p.E53 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 22 3 12.00 29 0 0.00 SAA1 6288 genome.wustl.edu 37 11 18290819 18290819 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 18290819 18290819 C T SNP SAA1 ENST00000356524 human ensembl 70_37 +1 known missense c.169 p.R57W 0.999 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA1 HGNC ENSG00000173432 44 5 10.20 39 0 0.00 SAA1 6288 genome.wustl.edu 37 11 18291272 18291272 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 18291272 18291272 G C SNP SAA1 ENST00000356524 human ensembl 70_37 +1 known missense c.239 p.R80T 0.998 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA1 HGNC ENSG00000173432 42 33 44.00 63 0 0.00 SAA2 6289 genome.wustl.edu 37 11 18267518 18267518 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 18267518 18267518 G A SNP SAA2 ENST00000256733 human ensembl 70_37 -1 known missense c.169 p.R57W 0.987 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA2 HGNC ENSG00000134339 89 34 27.64 124 1 0.80 SAA3P 6290 genome.wustl.edu 37 11 18134228 18134228 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18134228 18134228 T G SNP SAA3P ENST00000534768 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SAA3P HGNC ENSG00000166787 43 5 10.42 68 0 0.00 SAA3P 6290 genome.wustl.edu 37 11 18134753 18134753 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 18134753 18134753 C A SNP SAA3P ENST00000534768 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SAA3P HGNC ENSG00000166787 44 5 10.20 32 0 0.00 SAAL1 113174 genome.wustl.edu 37 11 18105253 18105253 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 18105253 18105253 G T SNP SAAL1 ENST00000524803 human ensembl 70_37 -1 known silent c.1068 p.L356 1.000 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 19 17 47.22 72 0 0.00 SACM1L 22908 genome.wustl.edu 37 3 45751043 45751043 + Silent SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 45751043 45751043 T C SNP SACM1L ENST00000389061 human ensembl 70_37 +1 known silent c.387 p.D129 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 55 19 25.68 62 0 0.00 SACS 26278 genome.wustl.edu 37 13 23905671 23905671 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 23905671 23905671 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.12344 p.S4115C 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 22 6 21.43 17 0 0.00 SACS 26278 genome.wustl.edu 37 13 23907093 23907093 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 23907093 23907093 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.10922 p.S3641C 0.783 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 14 8 36.36 33 0 0.00 SACS 26278 genome.wustl.edu 37 13 23907900 23907900 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 23907900 23907900 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.10115 p.S3372L 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 21 17 44.74 58 0 0.00 SACS 26278 genome.wustl.edu 37 13 23908103 23908103 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 23908103 23908103 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known silent c.9912 p.L3304 0.146 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 9 7 43.75 16 0 0.00 SACS 26278 genome.wustl.edu 37 13 23909371 23909371 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 23909371 23909371 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.8644 p.H2882Y 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 2 7 77.78 31 0 0.00 SACS 26278 genome.wustl.edu 37 13 23911873 23911873 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 23911873 23911873 C T SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.6142 p.E2048K 0.999 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 10 9 47.37 24 0 0.00 SACS 26278 genome.wustl.edu 37 13 23913856 23913856 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 23913856 23913856 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.4159 p.P1387S 0.997 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 69 26 27.08 151 0 0.00 SACS 26278 genome.wustl.edu 37 13 23914001 23914001 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 23914001 23914001 C T SNP SACS ENST00000382292 human ensembl 70_37 -1 known silent c.4014 p.K1338 0.998 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 54 32 37.21 62 0 0.00 SAE1 10055 genome.wustl.edu 37 19 47658464 47658464 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 47658464 47658464 C G SNP SAE1 ENST00000270225 human ensembl 70_37 +1 known silent c.621 p.V207 0.989 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 11 26 70.27 48 0 0.00 SAFB 6294 genome.wustl.edu 37 19 5641634 5641634 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 5641634 5641634 G C SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.304 p.D102H 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 63 50 44.25 106 0 0.00 SAFB 6294 genome.wustl.edu 37 19 5654185 5654185 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5654185 5654185 C T SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.1640 p.S547L 0.674 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 133 36 21.18 164 0 0.00 SAFB 6294 genome.wustl.edu 37 19 5667852 5667852 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 5667852 5667852 G C SNP SAFB ENST00000588852 human ensembl 70_37 +1 known missense c.2579 p.G860A 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 26 16 38.10 46 0 0.00 SAFB2 9667 genome.wustl.edu 37 19 5600247 5600247 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5600247 5600247 C G SNP SAFB2 ENST00000252542 human ensembl 70_37 -1 known missense c.1584 p.K528N 0.889 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 22 12 35.29 29 0 0.00 SAFB2 9667 genome.wustl.edu 37 19 5622699 5622699 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5622699 5622699 C A SNP SAFB2 ENST00000252542 human ensembl 70_37 -1 known missense c.28 p.D10Y 0.936 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 82 11 11.83 94 0 0.00 SAG 6295 genome.wustl.edu 37 2 234229394 234229394 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 234229394 234229394 C T SNP SAG ENST00000409110 human ensembl 70_37 +1 known silent c.300 p.A100 0.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 16 22 57.89 40 0 0.00 SAG 6295 genome.wustl.edu 37 2 234255520 234255520 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 234255520 234255520 G A SNP SAG ENST00000409110 human ensembl 70_37 +1 known missense c.1180 p.E394K 0.447 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 24 3 11.11 36 0 0.00 SAGE1 55511 genome.wustl.edu 37 X 134989157 134989157 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 134989157 134989157 C T SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.809 p.S270L 0.045 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 58 9 13.43 52 0 0.00 SAGE1 55511 genome.wustl.edu 37 X 134989560 134989560 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 134989560 134989560 G A SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known silent c.966 p.V322 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 34 14 29.17 46 0 0.00 SAGE1 55511 genome.wustl.edu 37 X 134991912 134991912 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134991912 134991912 T C SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.1697 p.I566T 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 15 6 28.57 40 0 0.00 SAGE1 55511 genome.wustl.edu 37 X 134994496 134994496 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 134994496 134994496 C G SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.2538 p.F846L 0.818 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 25 3 10.71 47 0 0.00 SAGE1 55511 genome.wustl.edu 37 X 134994537 134994537 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134994537 134994537 G T SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.2579 p.R860I 0.711 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 34 4 10.53 41 0 0.00 SALL1 6299 genome.wustl.edu 37 16 51172627 51172627 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 51172627 51172627 C G SNP SALL1 ENST00000251020 human ensembl 70_37 -1 known missense c.3506 p.R1169T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 6 44 86.27 92 0 0.00 SALL1 6299 genome.wustl.edu 37 16 51174607 51174607 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 51174607 51174607 T C SNP SALL1 ENST00000251020 human ensembl 70_37 -1 known missense c.1526 p.N509S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 44 10 18.18 39 0 0.00 SALL2 6297 genome.wustl.edu 37 14 21994234 21994234 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 21994234 21994234 G A SNP SALL2 ENST00000450879 human ensembl 70_37 -1 putative missense c.28 p.R10C 0.498 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 19 5 20.83 11 0 0.00 SALL3 27164 genome.wustl.edu 37 18 76754104 76754104 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 76754104 76754104 C T SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known missense c.2113 p.R705W 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 27 19 41.30 23 0 0.00 SALL3 27164 genome.wustl.edu 37 18 76754229 76754229 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 76754229 76754229 G A SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known silent c.2238 p.K746 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 19 16 45.71 27 0 0.00 SALL3 27164 genome.wustl.edu 37 18 76754968 76754968 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 76754968 76754968 G C SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known missense c.2977 p.E993Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 42 11 20.75 52 0 0.00 SALL4 57167 genome.wustl.edu 37 20 50406888 50406888 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 50406888 50406888 G A SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.2134 p.L712F 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 27 15 35.71 49 0 0.00 SALL4 57167 genome.wustl.edu 37 20 50407220 50407220 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 20 50407220 50407220 C T SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.1802 p.R601Q 0.984 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 106 21 16.54 69 0 0.00 SALL4 57167 genome.wustl.edu 37 20 50407563 50407563 + Nonsense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 20 50407563 50407563 G A SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known nonsense c.1459 p.Q487* 0.993 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 227 57 20.00 228 0 0.00 SALL4 57167 genome.wustl.edu 37 20 50408527 50408527 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 50408527 50408527 G T SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known silent c.495 p.P165 0.121 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 27 4 12.90 30 0 0.00 SALL4 57167 genome.wustl.edu 37 20 50418912 50418912 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 50418912 50418912 G C SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.36 p.I12M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 19 4 17.39 14 0 0.00 SAMD1 90378 genome.wustl.edu 37 19 14199246 14199246 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 14199246 14199246 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.1282 p.D428N 0.931 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 22 3 12.00 36 0 0.00 SAMD1 90378 genome.wustl.edu 37 19 14200004 14200004 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 14200004 14200004 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel silent c.807 p.E269 0.954 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 48 9 15.79 98 0 0.00 SAMD1 90378 genome.wustl.edu 37 19 14200150 14200150 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 14200150 14200150 C G SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.661 p.E221Q 0.999 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 35 10 22.22 46 0 0.00 SAMD1 90378 genome.wustl.edu 37 19 14200167 14200167 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 14200167 14200167 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.644 p.G215E 1.000 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 29 16 35.56 41 0 0.00 SAMD10 140700 genome.wustl.edu 37 20 62608706 62608706 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62608706 62608706 C T SNP SAMD10 ENST00000369886 human ensembl 70_37 -1 known missense c.145 p.E49K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD10 HGNC ENSG00000130590 90 23 20.35 81 0 0.00 SAMD12 401474 genome.wustl.edu 37 8 119391662 119391662 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 119391662 119391662 C A SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.600 p.Q200H 0.006 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC ENSG00000177570 18 4 18.18 29 0 0.00 SAMD12 401474 genome.wustl.edu 37 8 119391817 119391817 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 119391817 119391817 G C SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.445 p.L149V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC ENSG00000177570 152 55 26.44 81 0 0.00 SAMD12 401474 genome.wustl.edu 37 8 119391916 119391916 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 119391916 119391916 C T SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.346 p.D116N 1.000 pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC ENSG00000177570 109 50 31.45 89 0 0.00 SAMD13 148418 genome.wustl.edu 37 1 84768891 84768891 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 84768891 84768891 G A SNP SAMD13 ENST00000370671 human ensembl 70_37 +1 known missense c.34 p.E12K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD13 HGNC ENSG00000203943 45 26 36.62 52 0 0.00 SAMD15 161394 genome.wustl.edu 37 14 77844148 77844148 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77844148 77844148 G A SNP SAMD15 ENST00000216471 human ensembl 70_37 +1 known silent c.387 p.T129 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 14 3 17.65 23 0 0.00 SAMD3 154075 genome.wustl.edu 37 6 130505720 130505720 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 130505720 130505720 C T SNP SAMD3 ENST00000368134 human ensembl 70_37 -1 known silent c.432 p.T144 0.176 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 28 4 12.50 57 0 0.00 SAMD3 154075 genome.wustl.edu 37 6 130536361 130536361 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 130536361 130536361 C T SNP SAMD3 ENST00000368134 human ensembl 70_37 -1 known missense c.58 p.E20K 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 17 10 37.04 30 0 0.00 SAMD4A 23034 genome.wustl.edu 37 14 55168941 55168941 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 55168941 55168941 G C SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.358 p.E120Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 61 19 23.75 124 0 0.00 SAMD4A 23034 genome.wustl.edu 37 14 55169040 55169040 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 55169040 55169040 C T SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.457 p.R153C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 14 9 39.13 34 0 0.00 SAMD4A 23034 genome.wustl.edu 37 14 55203957 55203957 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 55203957 55203957 C G SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.931 p.Q311E 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 140 47 25.13 192 0 0.00 SAMD4A 23034 genome.wustl.edu 37 14 55231202 55231202 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 55231202 55231202 G A SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.1540 p.D514N 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 43 25 36.76 80 0 0.00 SAMD4B 55095 genome.wustl.edu 37 19 39850655 39850655 + RNA SNP C C G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 39850655 39850655 C G SNP SAMD4B ENST00000594204 human ensembl 70_37 +1 known rna NULL NULL 0.061 - - - no_errors SAMD4B HGNC ENSG00000179134 17 23 57.50 26 0 0.00 SAMD4B 55095 genome.wustl.edu 37 19 39868421 39868421 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 39868421 39868421 C T SNP SAMD4B ENST00000314471 human ensembl 70_37 +1 known silent c.1401 p.A467 0.490 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 15 33 68.75 28 0 0.00 SAMD4B 55095 genome.wustl.edu 37 19 39871358 39871358 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 39871358 39871358 C T SNP SAMD4B ENST00000314471 human ensembl 70_37 +1 known missense c.1781 p.S594L 0.982 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 14 6 30.00 29 0 0.00 SAMD5 389432 genome.wustl.edu 37 6 147830478 147830478 + Silent SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 147830478 147830478 C A SNP SAMD5 ENST00000367474 human ensembl 70_37 +1 known silent c.414 p.L138 0.977 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD5 HGNC ENSG00000203727 25 10 28.57 42 0 0.00 SAMD8 142891 genome.wustl.edu 37 10 76910349 76910349 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 10 76910349 76910349 G A SNP SAMD8 ENST00000372690 human ensembl 70_37 +1 known silent c.252 p.L84 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 45 11 19.30 38 0 0.00 SAMD8 142891 genome.wustl.edu 37 10 76924411 76924411 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 76924411 76924411 G C SNP SAMD8 ENST00000372690 human ensembl 70_37 +1 known missense c.776 p.R259T 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 48 27 36.00 101 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92732753 92732753 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 92732753 92732753 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.2658 p.M886I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 20 9 31.03 30 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92733737 92733737 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92733737 92733737 C A SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.1674 p.E558D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 14 6 30.00 34 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92734909 92734909 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 92734909 92734909 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.502 p.E168K 0.260 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 28 32 53.33 55 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92735050 92735050 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 92735050 92735050 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.361 p.D121N 0.006 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 141 35 19.89 107 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92735170 92735170 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92735170 92735170 C A SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.241 p.D81Y 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 33 17 34.00 93 0 0.00 SAMD9 54809 genome.wustl.edu 37 7 92735353 92735353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92735353 92735353 T G SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.58 p.N20H 0.535 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 26 10 27.78 58 0 0.00 SAMD9L 219285 genome.wustl.edu 37 7 92764218 92764218 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92764218 92764218 G A SNP SAMD9L ENST00000318238 human ensembl 70_37 -1 known missense c.1067 p.S356F 0.000 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 19 11 36.67 40 0 0.00 SAMM50 25813 genome.wustl.edu 37 22 44368762 44368762 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 44368762 44368762 C T SNP SAMM50 ENST00000350028 human ensembl 70_37 +1 known silent c.441 p.L147 1.000 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 27 9 25.00 36 0 0.00 SAMM50 25813 genome.wustl.edu 37 22 44372002 44372002 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 44372002 44372002 C T SNP SAMM50 ENST00000350028 human ensembl 70_37 +1 known missense c.716 p.S239L 0.771 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 48 25 34.25 63 0 0.00 SAMSN1 64092 genome.wustl.edu 37 21 15858251 15858251 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 15858251 15858251 G A SNP SAMSN1 ENST00000400566 human ensembl 70_37 -1 known silent c.1104 p.I368 0.993 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 28 9 24.32 25 0 0.00 SAMSN1 64092 genome.wustl.edu 37 21 15884885 15884885 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 15884885 15884885 C G SNP SAMSN1 ENST00000400566 human ensembl 70_37 -1 known missense c.289 p.D97H 0.996 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 35 18 33.96 21 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128712902 128712902 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 128712902 128712902 C T SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.2158 p.E720K 0.999 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 54 18 25.00 54 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128747378 128747378 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 128747378 128747378 C T SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.1618 p.V540I 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 31 15 32.61 61 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128767909 128767909 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 128767909 128767909 G C SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known nonsense c.881 p.S294* 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 24 3 11.11 22 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128774091 128774091 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 128774091 128774091 G A SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.457 p.P153S 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 19 8 29.63 19 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128775373 128775373 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128775373 128775373 G C SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.307 p.Q103E 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 26 8 23.53 28 0 0.00 SAP130 79595 genome.wustl.edu 37 2 128783857 128783857 + Nonsense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 128783857 128783857 G A SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known nonsense c.88 p.Q30* 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 47 13 21.67 51 0 0.00 SAP18 10284 genome.wustl.edu 37 13 21720741 21720741 + RNA SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 13 21720741 21720741 C T SNP SAP18 ENST00000471009 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SAP18 HGNC ENSG00000150459 5 5 50.00 12 0 0.00 SAP25 100316904 genome.wustl.edu 37 7 100170081 100170081 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100170081 100170081 C G SNP SAP25 ENST00000538735 human ensembl 70_37 -1 known silent c.429 p.L143 0.867 NULL NULL - no_errors SAP25 HGNC ENSG00000205307 21 9 30.00 28 0 0.00 SAP30 8819 genome.wustl.edu 37 4 174292224 174292224 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 174292224 174292224 C T SNP SAP30 ENST00000504618 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SAP30 HGNC ENSG00000164105 8 24 75.00 38 0 0.00 SAPCD1 401251 genome.wustl.edu 37 6 31732268 31732268 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 31732268 31732268 G A SNP SAPCD1 ENST00000415669 human ensembl 70_37 +1 known missense c.497 p.R166Q 0.000 NULL pfam_APC_dom - no_errors SAPCD1 HGNC ENSG00000228727 91 39 30.00 110 0 0.00 SAPCD2 89958 genome.wustl.edu 37 9 139960103 139960105 + In_Frame_Del DEL CTC CTC - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 139960103 139960105 CTC - DEL SAPCD2 ENST00000409687 human ensembl 70_37 -1 known in_frame_del c.702_700 p.E234in_frame_del 1.000:1.000:1.000 pfam_APC_dom pfam_APC_dom - no_errors SAPCD2 HGNC ENSG00000186193 24 7 22.58 28 0 0.00 SAR1A 56681 genome.wustl.edu 37 10 71917551 71917551 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 71917551 71917551 G C SNP SAR1A ENST00000373238 human ensembl 70_37 -1 known missense c.317 p.S106C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC ENSG00000079332 21 13 38.24 36 0 0.00 SAR1B 51128 genome.wustl.edu 37 5 133944129 133944129 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 5 133944129 133944129 C T SNP SAR1B ENST00000402673 human ensembl 70_37 -1 known missense c.413 p.R138K 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1B HGNC ENSG00000152700 34 16 32.00 51 0 0.00 SARDH 1757 genome.wustl.edu 37 9 136555521 136555521 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136555521 136555521 T G SNP SARDH ENST00000371872 human ensembl 70_37 -1 known missense c.2050 p.S684R 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 27 12 30.77 67 0 0.00 SARDH 1757 genome.wustl.edu 37 9 136577743 136577743 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 136577743 136577743 G A SNP SARDH ENST00000371872 human ensembl 70_37 -1 known silent c.1326 p.I442 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 41 16 28.07 42 0 0.00 SARDH 1757 genome.wustl.edu 37 9 136583881 136583881 + Splice_Site SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 136583881 136583881 T C SNP SARDH ENST00000371867 human ensembl 70_37 -1 known splice_site c.754-2 e7-2 0.000 - - - no_errors SARDH HGNC ENSG00000123453 19 3 13.64 29 0 0.00 SARM1 23098 genome.wustl.edu 37 17 26712222 26712222 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 26712222 26712222 G C SNP SARM1 ENST00000457710 human ensembl 70_37 +1 novel missense c.1456 p.E486Q 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 13 13 50.00 33 0 0.00 SARM1 23098 genome.wustl.edu 37 17 26715280 26715280 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 26715280 26715280 G C SNP SARM1 ENST00000457710 human ensembl 70_37 +1 novel missense c.1616 p.G539A 1.000 superfamily_TIR_dom,smart_TIR_dom pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 26 27 50.94 18 0 0.00 SARS 6301 genome.wustl.edu 37 1 109779286 109779286 + RNA SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 109779286 109779286 C G SNP SARS ENST00000468588 human ensembl 70_37 +1 known rna NULL NULL 0.078 - - - no_errors SARS HGNC ENSG00000031698 33 9 21.43 42 0 0.00 SARS 6301 genome.wustl.edu 37 1 109779449 109779449 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 109779449 109779449 C G SNP SARS ENST00000369923 human ensembl 70_37 +1 known missense c.1280 p.S427C 1.000 pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 21 8 27.59 31 0 0.00 SARS 6301 genome.wustl.edu 37 1 109780429 109780429 + Silent SNP T T C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 109780429 109780429 T C SNP SARS ENST00000369923 human ensembl 70_37 +1 known silent c.1530 p.H510 0.239 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 50 37 42.53 102 1 0.97 SARS2 54938 genome.wustl.edu 37 19 39408399 39408399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39408399 39408399 C G SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.1131 p.Q377H 1.000 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 36 27 42.19 35 0 0.00 SARS2 54938 genome.wustl.edu 37 19 39408622 39408622 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 39408622 39408622 C T SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.995 p.R332Q 1.000 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 3 3 50.00 18 0 0.00 SARS2 54938 genome.wustl.edu 37 19 39416865 39416865 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 39416865 39416865 C T SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.343 p.E115K 0.925 pirsf_Ser-tRNA-ligase_type_1,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 63 22 25.88 64 0 0.00 SART1 9092 genome.wustl.edu 37 11 65733421 65733421 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65733421 65733421 G A SNP SART1 ENST00000312397 human ensembl 70_37 +1 known missense c.802 p.E268K 0.997 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 31 26 45.61 33 0 0.00 SART1 9092 genome.wustl.edu 37 11 65735054 65735054 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65735054 65735054 G C SNP SART1 ENST00000312397 human ensembl 70_37 +1 known missense c.1426 p.E476Q 0.989 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 51 33 39.29 59 0 0.00 SART3 9733 genome.wustl.edu 37 12 108919340 108919340 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 108919340 108919340 G C SNP SART3 ENST00000228284 human ensembl 70_37 -1 known nonsense c.2417 p.S806* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 29 18 38.30 39 0 0.00 SART3 9733 genome.wustl.edu 37 12 108923992 108923992 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108923992 108923992 C G SNP SART3 ENST00000228284 human ensembl 70_37 -1 known missense c.1842 p.K614N 0.988 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 16 15 48.39 25 0 0.00 SART3 9733 genome.wustl.edu 37 12 108942982 108942982 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 108942982 108942982 G A SNP SART3 ENST00000228284 human ensembl 70_37 -1 known silent c.321 p.I107 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 35 13 27.08 42 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148664255 148664255 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 148664255 148664255 G C SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.001 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 18 8 30.77 23 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148761536 148761536 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 148761536 148761536 G C SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 18 10 35.71 22 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148840845 148840845 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 148840845 148840845 A G SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.1025 p.D342G 0.995 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 11 6 35.29 29 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148846469 148846469 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 148846469 148846469 C T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known silent c.1252 p.L418 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 17 42 71.19 59 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148855021 148855021 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 148855021 148855021 G A SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.1849 p.E617K 0.999 superfamily_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 15 9 37.50 21 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148864862 148864862 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 148864862 148864862 G T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.2256 p.E752D 0.095 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 27 5 15.62 68 0 0.00 SASH1 23328 genome.wustl.edu 37 6 148865568 148865568 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 148865568 148865568 C T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.2962 p.P988S 0.998 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 25 9 26.47 42 0 0.00 SASH3 54440 genome.wustl.edu 37 X 128913963 128913963 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 128913963 128913963 G A SNP SASH3 ENST00000476532 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SASH3 HGNC ENSG00000122122 49 22 30.56 41 0 0.00 SASH3 54440 genome.wustl.edu 37 X 128914080 128914080 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 128914080 128914080 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known missense c.7 p.R3C 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 59 55 48.25 107 0 0.00 SASH3 54440 genome.wustl.edu 37 X 128922006 128922006 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 128922006 128922006 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known missense c.113 p.S38F 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 84 35 29.41 118 0 0.00 SASH3 54440 genome.wustl.edu 37 X 128926434 128926434 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 128926434 128926434 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known silent c.573 p.H191 0.062 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 52 21 28.77 49 0 0.00 SASS6 163786 genome.wustl.edu 37 1 100571329 100571329 + Silent SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 100571329 100571329 C G SNP SASS6 ENST00000287482 human ensembl 70_37 -1 known silent c.1539 p.L513 0.388 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 54 18 25.00 65 0 0.00 SASS6 163786 genome.wustl.edu 37 1 100586960 100586960 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 100586960 100586960 G A SNP SASS6 ENST00000287482 human ensembl 70_37 -1 known missense c.457 p.L153F 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 39 16 29.09 46 0 0.00 SASS6 163786 genome.wustl.edu 37 1 100598423 100598423 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 100598423 100598423 C T SNP SASS6 ENST00000462159 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SASS6 HGNC ENSG00000156876 58 34 36.96 90 0 0.00 SAT1 6303 genome.wustl.edu 37 X 23803877 23803878 + Frame_Shift_Ins INS - - A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 23803877 23803878 - A INS SAT1 ENST00000379270 human ensembl 70_37 +1 known frame_shift_ins c.420_421 p.R141fs 1.000:1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors SAT1 HGNC ENSG00000130066 15 7 31.82 42 0 0.00 SATB1 6304 genome.wustl.edu 37 3 18427918 18427918 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 18427918 18427918 G C SNP SATB1 ENST00000338745 human ensembl 70_37 -1 known missense c.1392 p.I464M 0.993 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 57 18 24.00 66 0 0.00 SATB2 23314 genome.wustl.edu 37 2 200173588 200173588 + Silent SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 200173588 200173588 C A SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known silent c.1635 p.L545 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 49 24 32.88 57 0 0.00 SATB2 23314 genome.wustl.edu 37 2 200213501 200213501 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 200213501 200213501 G A SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known nonsense c.1096 p.Q366* 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 43 37 46.25 63 0 0.00 SATB2 23314 genome.wustl.edu 37 2 200298085 200298085 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 200298085 200298085 G C SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known missense c.322 p.H108D 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 17 13 43.33 36 0 0.00 SATL1 340562 genome.wustl.edu 37 X 84362391 84362391 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 84362391 84362391 G A SNP SATL1 ENST00000509231 human ensembl 70_37 -1 known silent c.1584 p.Y528 0.003 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 11 7 38.89 55 0 0.00 SAYSD1 55776 genome.wustl.edu 37 6 39082734 39082734 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39082734 39082734 G A SNP SAYSD1 ENST00000229903 human ensembl 70_37 -1 known silent c.132 p.A44 0.459 NULL pfam_Uncharacterised_SAYSvFN - no_errors SAYSD1 HGNC ENSG00000112167 29 10 25.64 23 0 0.00 SBDS 51119 genome.wustl.edu 37 7 66453398 66453398 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 66453398 66453398 T C SNP SBDS ENST00000246868 human ensembl 70_37 -1 known missense c.713 p.N238S 0.396 NULL pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC ENSG00000126524 99 56 36.13 140 0 0.00 SBDS 51119 genome.wustl.edu 37 7 66460307 66460307 + Missense_Mutation SNP T T A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 66460307 66460307 T A SNP SBDS ENST00000246868 human ensembl 70_37 -1 known missense c.98 p.K33I 1.000 pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC ENSG00000126524 143 79 35.59 123 0 0.00 SBDS 51119 genome.wustl.edu 37 7 66460333 66460333 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 66460333 66460333 C T SNP SBDS ENST00000246868 human ensembl 70_37 -1 known silent c.72 p.G24 0.998 pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC ENSG00000126524 43 17 28.33 86 0 0.00 SBF1 6305 genome.wustl.edu 37 22 50893488 50893488 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50893488 50893488 G C SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.4638 p.F1546L 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 36 9 19.57 23 0 0.00 SBF1 6305 genome.wustl.edu 37 22 50897698 50897698 + Missense_Mutation SNP T T C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 22 50897698 50897698 T C SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.3812 p.H1271R 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 80 21 20.59 126 0 0.00 SBF1 6305 genome.wustl.edu 37 22 50902823 50902823 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 50902823 50902823 G A SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.1684 p.R562W 0.986 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 25 21 45.65 40 0 0.00 SBF1 6305 genome.wustl.edu 37 22 50903265 50903265 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 50903265 50903265 C G SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.1414 p.E472Q 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 58 53 47.75 74 0 0.00 SBF2 81846 genome.wustl.edu 37 11 10024135 10024135 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10024135 10024135 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known silent c.721 p.L241 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 46 34 41.98 95 0 0.00 SBF2 81846 genome.wustl.edu 37 11 10024173 10024173 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 10024173 10024173 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.683 p.S228F 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 25 11 30.56 29 0 0.00 SBF2 81846 genome.wustl.edu 37 11 9851041 9851041 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 9851041 9851041 G C SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.3655 p.P1219A 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 16 15 48.39 31 0 0.00 SBF2 81846 genome.wustl.edu 37 11 9867227 9867227 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 9867227 9867227 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known nonsense c.2995 p.Q999* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 21 10 32.26 43 0 0.00 SBF2 81846 genome.wustl.edu 37 11 9879898 9879898 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 9879898 9879898 C T SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.1975 p.D659N 1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 59 38 39.18 77 0 0.00 SBK2 646643 genome.wustl.edu 37 19 56042597 56042597 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 19 56042597 56042597 G A SNP SBK2 ENST00000344158 human ensembl 70_37 -1 known silent c.369 p.Y123 0.995 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SBK2 HGNC ENSG00000187550 40 36 47.37 74 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123782609 123782609 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 123782609 123782609 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3955 p.E1319K 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 45 27 37.50 25 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123798237 123798237 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123798237 123798237 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3150 p.M1050I 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 16 15 48.39 43 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123799990 123799990 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 123799990 123799990 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3050 p.G1017E 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 51 18 26.09 120 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123801789 123801789 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123801789 123801789 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.2914 p.D972N 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 28 8 22.22 84 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123804981 123804981 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123804981 123804981 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.2665 p.E889K 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 52 16 23.53 75 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123805113 123805113 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123805113 123805113 G A SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known nonsense c.2533 p.Q845* 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 28 23 45.10 104 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123813354 123813354 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 123813354 123813354 C G SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.1223 p.S408T 1.000 pfam_Helicase/UvrB_dom pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 55 21 27.63 47 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123818692 123818692 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 123818692 123818692 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.817 p.D273N 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 28 13 31.71 55 0 0.00 SBNO1 55206 genome.wustl.edu 37 12 123829879 123829879 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123829879 123829879 T G SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.476 p.K159T 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 66 18 21.43 112 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1111509 1111509 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 1111509 1111509 G C SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.2805 p.F935L 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 50 13 20.63 43 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1116100 1116100 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 1116100 1116100 C A SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1805 p.G602V 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 83 12 12.63 80 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1117401 1117401 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 1117401 1117401 C T SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1625 p.R542H 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 44 26 36.62 60 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1119067 1119067 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1119067 1119067 G A SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known silent c.1470 p.I490 0.868 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 49 17 25.76 80 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1119543 1119543 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 1119543 1119543 C G SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1345 p.E449Q 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 76 11 12.64 63 0 0.00 SBNO2 22904 genome.wustl.edu 37 19 1127732 1127732 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 1127732 1127732 G C SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.312 p.I104M 0.954 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 9 9 50.00 26 0 0.00 SBSN 374897 genome.wustl.edu 37 19 36017549 36017549 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36017549 36017549 C T SNP SBSN ENST00000518157 human ensembl 70_37 -1 known silent c.606 p.L202 1.000 NULL NULL - no_errors SBSN HGNC ENSG00000189001 37 14 27.45 31 0 0.00 SBSN 374897 genome.wustl.edu 37 19 36018715 36018715 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 19 36018715 36018715 C T SNP SBSN ENST00000452271 human ensembl 70_37 -1 novel missense c.469 p.D157N 0.200 NULL NULL - no_errors SBSN HGNC ENSG00000189001 75 34 31.19 134 0 0.00 SBSPON 157869 genome.wustl.edu 37 8 73979371 73979371 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 73979371 73979371 G C SNP SBSPON ENST00000519697 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SBSPON HGNC ENSG00000164764 68 13 16.05 46 0 0.00 SBSPON 157869 genome.wustl.edu 37 8 73979488 73979488 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 8 73979488 73979488 C A SNP SBSPON ENST00000519697 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SBSPON HGNC ENSG00000164764 106 32 22.86 98 0 0.00 SBSPON 157869 genome.wustl.edu 37 8 73982179 73982179 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 73982179 73982179 G A SNP SBSPON ENST00000297354 human ensembl 70_37 -1 known missense c.538 p.H180Y 0.856 NULL superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt - no_errors SBSPON HGNC ENSG00000164764 50 23 31.51 74 0 0.00 SCAF1 58506 genome.wustl.edu 37 19 50154543 50154543 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50154543 50154543 G A SNP SCAF1 ENST00000360565 human ensembl 70_37 +1 known silent c.897 p.E299 0.621 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 32 12 27.27 51 0 0.00 SCAF11 9169 genome.wustl.edu 37 12 46320408 46320408 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 46320408 46320408 C T SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.3076 p.E1026K 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 13 2 13.33 37 0 0.00 SCAF11 9169 genome.wustl.edu 37 12 46320695 46320695 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 46320695 46320695 C T SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.2789 p.R930K 0.995 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 26 4 13.33 48 0 0.00 SCAF11 9169 genome.wustl.edu 37 12 46322156 46322156 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 46322156 46322156 G A SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.1328 p.S443F 0.986 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 24 8 25.00 35 0 0.00 SCAF4 57466 genome.wustl.edu 37 21 33060778 33060778 + Splice_Site SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 33060778 33060778 C A SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known splice_site c.1886-1 e16-1 1.000 - - - no_errors SCAF4 HGNC ENSG00000156304 48 33 40.74 60 0 0.00 SCAF4 57466 genome.wustl.edu 37 21 33064673 33064673 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33064673 33064673 C A SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known nonsense c.1603 p.E535* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 2 12 85.71 20 0 0.00 SCAF4 57466 genome.wustl.edu 37 21 33065619 33065619 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 33065619 33065619 C T SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known missense c.1501 p.E501K 0.997 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 47 18 27.69 53 0 0.00 SCAF4 57466 genome.wustl.edu 37 21 33065777 33065777 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 33065777 33065777 G C SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known missense c.1343 p.S448C 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 15 17 53.12 22 0 0.00 SCAF8 22828 genome.wustl.edu 37 6 155114064 155114064 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 155114064 155114064 C T SNP SCAF8 ENST00000367186 human ensembl 70_37 +1 known silent c.627 p.V209 1.000 superfamily_ENTH_VHS pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 37 13 26.00 59 0 0.00 SCAF8 22828 genome.wustl.edu 37 6 155143334 155143334 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 155143334 155143334 G A SNP SCAF8 ENST00000479234 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SCAF8 HGNC ENSG00000213079 17 4 19.05 20 0 0.00 SCAI 286205 genome.wustl.edu 37 9 127734084 127734084 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 127734084 127734084 T C SNP SCAI ENST00000373549 human ensembl 70_37 -1 known missense c.1508 p.N503S 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 19 11 36.67 47 0 0.00 SCAI 286205 genome.wustl.edu 37 9 127738408 127738408 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 127738408 127738408 G C SNP SCAI ENST00000373549 human ensembl 70_37 -1 known missense c.1453 p.P485A 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 19 13 40.62 34 0 0.00 SCAI 286205 genome.wustl.edu 37 9 127765467 127765467 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 127765467 127765467 C G SNP SCAI ENST00000373549 human ensembl 70_37 -1 known missense c.1060 p.E354Q 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 50 20 28.57 59 0 0.00 SCAI 286205 genome.wustl.edu 37 9 127828300 127828300 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 127828300 127828300 G A SNP SCAI ENST00000373549 human ensembl 70_37 -1 known nonsense c.136 p.Q46* 0.422 pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 50 12 19.35 66 0 0.00 SCAMP2 10066 genome.wustl.edu 37 15 75137833 75137833 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 75137833 75137833 G A SNP SCAMP2 ENST00000268099 human ensembl 70_37 -1 known missense c.836 p.S279L 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 22 6 21.43 22 0 0.00 SCAMP3 10067 genome.wustl.edu 37 1 155226555 155226555 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 155226555 155226555 C T SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known silent c.807 p.P269 0.416 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 24 4 14.29 19 0 0.00 SCAMP3 10067 genome.wustl.edu 37 1 155230175 155230175 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155230175 155230175 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.334 p.E112Q 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 30 27 47.37 37 0 0.00 SCAMP3 10067 genome.wustl.edu 37 1 155230178 155230178 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155230178 155230178 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.331 p.E111Q 0.998 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 26 18 40.91 46 0 0.00 SCAMP3 10067 genome.wustl.edu 37 1 155231477 155231477 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 155231477 155231477 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.115 p.D39H 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 64 33 34.02 67 0 0.00 SCAND2P 54581 genome.wustl.edu 37 15 85177859 85177859 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 85177859 85177859 C T SNP SCAND2 ENST00000427525 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors SCAND2 HGNC ENSG00000176700 18 11 37.93 36 0 0.00 SCAND3 114821 genome.wustl.edu 37 6 28540339 28540339 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 28540339 28540339 G A SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known silent c.3327 p.F1109 0.999 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 25 7 21.88 50 0 0.00 SCAND3 114821 genome.wustl.edu 37 6 28540724 28540724 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 28540724 28540724 G C SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.2942 p.S981C 0.998 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 74 23 23.71 56 0 0.00 SCAND3 114821 genome.wustl.edu 37 6 28543779 28543779 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28543779 28543779 C G SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.703 p.E235Q 0.874 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 27 5 15.62 69 0 0.00 SCAND3 114821 genome.wustl.edu 37 6 28543884 28543884 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 28543884 28543884 G C SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.598 p.Q200E 0.811 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 22 21 48.84 50 0 0.00 SCAP 22937 genome.wustl.edu 37 3 47465422 47465422 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47465422 47465422 C G SNP SCAP ENST00000265565 human ensembl 70_37 -1 known splice_site c.1150+1 e8+1 1.000 - - - no_errors SCAP HGNC ENSG00000114650 27 13 32.50 46 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 76866515 76866515 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 76866515 76866515 C G SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2822 p.R941T 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 51 25 32.89 91 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 76994121 76994121 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 76994121 76994121 C T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2486 p.R829H 0.999 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 64 13 16.88 53 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 76998282 76998282 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 76998282 76998282 C T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2209 p.E737K 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 28 33 54.10 52 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 76998298 76998298 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 15 76998298 76998298 G T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known silent c.2193 p.L731 0.588 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 19 3 13.64 36 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 77021070 77021070 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 77021070 77021070 C G SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2031 p.K677N 0.992 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 72 8 10.00 43 0 0.00 SCAPER 49855 genome.wustl.edu 37 15 77096936 77096936 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 77096936 77096936 G C SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.432 p.F144L 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 21 6 22.22 39 0 0.00 SCARA5 286133 genome.wustl.edu 37 8 27737165 27737165 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 27737165 27737165 C T SNP SCARA5 ENST00000354914 human ensembl 70_37 -1 known silent c.1272 p.K424 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC ENSG00000168079 37 27 42.19 111 0 0.00 SCARB1 949 genome.wustl.edu 37 12 125296452 125296452 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 125296452 125296452 C T SNP SCARB1 ENST00000415380 human ensembl 70_37 -1 known silent c.690 p.R230 0.929 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 37 15 28.85 46 0 0.00 SCARB1 949 genome.wustl.edu 37 12 125298946 125298946 + Silent SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 125298946 125298946 C A SNP SCARB1 ENST00000415380 human ensembl 70_37 -1 known silent c.432 p.A144 0.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 101 24 19.20 91 0 0.00 SCARB2 950 genome.wustl.edu 37 4 77089622 77089622 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77089622 77089622 C A SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.1121 p.G374V 1.000 pfam_CD36,prints_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 36 13 26.53 54 0 0.00 SCARB2 950 genome.wustl.edu 37 4 77095431 77095431 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77095431 77095431 A G SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.860 p.V287A 0.902 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 10 7 41.18 32 0 0.00 SCARB2 950 genome.wustl.edu 37 4 77097666 77097666 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 77097666 77097666 C T SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.628 p.D210N 1.000 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 32 12 27.27 34 0 0.00 SCARF1 8578 genome.wustl.edu 37 17 1538734 1538734 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 1538734 1538734 C T SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1811 p.R604Q 0.970 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 24 25 51.02 88 0 0.00 SCARF1 8578 genome.wustl.edu 37 17 1538767 1538767 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 1538767 1538767 G A SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1778 p.A593V 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 14 27 65.85 43 0 0.00 SCARF1 8578 genome.wustl.edu 37 17 1540334 1540334 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 17 1540334 1540334 C T SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1387 p.V463M 0.052 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 26 6 18.75 34 0 0.00 SCARF1 8578 genome.wustl.edu 37 17 1543025 1543025 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 17 1543025 1543025 G C SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1151 p.S384C 0.999 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 53 33 38.37 112 0 0.00 SCARF2 91179 genome.wustl.edu 37 22 20781775 20781775 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20781775 20781775 C G SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known missense c.1603 p.E535Q 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 62 23 27.06 59 0 0.00 SCARF2 91179 genome.wustl.edu 37 22 20784796 20784796 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20784796 20784796 G A SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known silent c.1122 p.F374 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 21 6 22.22 28 0 0.00 SCARF2 91179 genome.wustl.edu 37 22 20786051 20786051 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 20786051 20786051 G C SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known missense c.315 p.F105L 1.000 smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 8 19 70.37 16 0 0.00 SCARF2 91179 genome.wustl.edu 37 22 20786087 20786087 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 20786087 20786087 C G SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known silent c.279 p.V93 1.000 smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 18 8 30.77 30 0 0.00 SCARNA13 677768 genome.wustl.edu 37 14 95999781 95999781 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 95999781 95999781 G A SNP SCARNA13 ENST00000516672 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA13 HGNC ENSG00000252481 8 14 63.64 24 0 0.00 SCARNA14 692149 genome.wustl.edu 37 15 66639586 66639586 + RNA SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 66639586 66639586 G C SNP SCARNA14 ENST00000516903 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA14 HGNC ENSG00000252712 39 20 33.90 54 0 0.00 SCARNA14 692149 genome.wustl.edu 37 15 66639623 66639623 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 66639623 66639623 G A SNP SCARNA14 ENST00000516903 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA14 HGNC ENSG00000252712 36 11 23.40 58 0 0.00 SCARNA22 677770 genome.wustl.edu 37 4 1976411 1976411 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 1976411 1976411 G A SNP SCARNA22 ENST00000503991 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SCARNA22 HGNC ENSG00000249784 57 12 17.39 59 0 0.00 SCCPDH 51097 genome.wustl.edu 37 1 246890254 246890254 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 246890254 246890254 C T SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known missense c.251 p.S84L 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 29 42 59.15 76 0 0.00 SCCPDH 51097 genome.wustl.edu 37 1 246903556 246903556 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 246903556 246903556 C A SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known missense c.467 p.S156Y 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 30 7 18.92 32 0 0.00 SCCPDH 51097 genome.wustl.edu 37 1 246927547 246927547 + Splice_Site SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 246927547 246927547 G A SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known splice_site c.991-1 e10-1 1.000 - - - no_errors SCCPDH HGNC ENSG00000143653 66 38 36.54 123 0 0.00 SCD5 79966 genome.wustl.edu 37 4 83601868 83601868 + Silent SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 4 83601868 83601868 G A SNP SCD5 ENST00000319540 human ensembl 70_37 -1 known silent c.561 p.I187 1.000 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 27 10 27.03 31 0 0.00 SCD5 79966 genome.wustl.edu 37 4 83719652 83719652 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 83719652 83719652 G A SNP SCD5 ENST00000319540 human ensembl 70_37 -1 known silent c.39 p.F13 0.018 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 21 14 38.89 40 0 0.00 SCEL 8796 genome.wustl.edu 37 13 78176203 78176203 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 78176203 78176203 C T SNP SCEL ENST00000349847 human ensembl 70_37 +1 known silent c.921 p.I307 0.828 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 68 8 10.53 89 0 0.00 SCEL-AS1 0 genome.wustl.edu 37 13 78176270 78176270 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 78176270 78176270 C T SNP SCEL-AS1 ENST00000456280 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors SCEL-AS1 HGNC ENSG00000224347 18 5 21.74 26 0 0.00 SCFD2 152579 genome.wustl.edu 37 4 53752028 53752028 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 53752028 53752028 G A SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known silent c.1848 p.S616 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 30 4 11.76 45 0 0.00 SCFD2 152579 genome.wustl.edu 37 4 54231279 54231279 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 54231279 54231279 T C SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known missense c.830 p.D277G 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 16 14 46.67 32 0 0.00 SCFD2 152579 genome.wustl.edu 37 4 54231379 54231379 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 54231379 54231379 G C SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known missense c.730 p.Q244E 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 38 20 34.48 37 0 0.00 SCG2 7857 genome.wustl.edu 37 2 224462210 224462210 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 224462210 224462210 G A SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known silent c.1791 p.L597 0.999 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 26 9 25.71 39 0 0.00 SCG2 7857 genome.wustl.edu 37 2 224462577 224462577 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 224462577 224462577 G A SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known missense c.1424 p.S475L 0.010 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 40 13 24.53 68 0 0.00 SCG2 7857 genome.wustl.edu 37 2 224462894 224462894 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 224462894 224462894 G C SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known silent c.1107 p.L369 0.010 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 44 7 13.46 39 0 0.00 SCG2 7857 genome.wustl.edu 37 2 224463757 224463757 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 224463757 224463757 G C SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known missense c.244 p.Q82E 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 12 5 29.41 57 0 0.00 SCG5 6447 genome.wustl.edu 37 15 32972022 32972022 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 32972022 32972022 C T SNP SCG5 ENST00000300175 human ensembl 70_37 +1 known silent c.282 p.I94 0.120 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 38 9 19.15 55 0 0.00 SCG5 6447 genome.wustl.edu 37 15 32983947 32983947 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 32983947 32983947 G A SNP SCG5 ENST00000300175 human ensembl 70_37 +1 known missense c.526 p.E176K 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 67 47 41.23 76 0 0.00 SCGB1D1 10648 genome.wustl.edu 37 11 61959649 61959649 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 61959649 61959649 G T SNP SCGB1D1 ENST00000306238 human ensembl 70_37 +1 known missense c.177 p.K59N 0.000 pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1D1 HGNC ENSG00000168515 36 4 10.00 49 0 0.00 SCGB1D2 10647 genome.wustl.edu 37 11 62010802 62010802 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 62010802 62010802 G C SNP SCGB1D2 ENST00000244926 human ensembl 70_37 +1 known missense c.97 p.D33H 0.000 pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1D2 HGNC ENSG00000124935 14 36 72.00 63 0 0.00 SCGB2B2 284402 genome.wustl.edu 37 19 35085427 35085427 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 35085427 35085427 C T SNP SCGB2B2 ENST00000379204 human ensembl 70_37 -1 known silent c.42 p.L14 0.093 pfam_Uteroglobin-like_superfam pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC ENSG00000205209 88 28 24.14 115 0 0.00 SCGN 10590 genome.wustl.edu 37 6 25689739 25689739 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 25689739 25689739 A G SNP SCGN ENST00000377961 human ensembl 70_37 +1 known silent c.612 p.K204 0.996 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SCGN HGNC ENSG00000079689 63 11 14.86 62 0 0.00 SCIN 85477 genome.wustl.edu 37 7 12675747 12675747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 12675747 12675747 G C SNP SCIN ENST00000297029 human ensembl 70_37 +1 known missense c.1397 p.G466A 0.993 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors SCIN HGNC ENSG00000006747 25 18 41.86 33 0 0.00 SCLT1 132320 genome.wustl.edu 37 4 129857841 129857841 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 129857841 129857841 C T SNP SCLT1 ENST00000281142 human ensembl 70_37 -1 known missense c.1798 p.E600K 0.994 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 23 9 28.12 41 0 0.00 SCLT1 132320 genome.wustl.edu 37 4 129878270 129878270 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 129878270 129878270 C G SNP SCLT1 ENST00000281142 human ensembl 70_37 -1 known missense c.1057 p.E353Q 0.986 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 35 6 14.63 31 0 0.00 SCLY 51540 genome.wustl.edu 37 2 239005466 239005466 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 239005466 239005466 G A SNP SCLY ENST00000254663 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.400 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 54 57 51.35 62 0 0.00 SCMH1 22955 genome.wustl.edu 37 1 41494305 41494305 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 41494305 41494305 C T SNP SCMH1 ENST00000326197 human ensembl 70_37 -1 known missense c.1808 p.R603Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 55 12 17.91 46 0 0.00 SCMH1 22955 genome.wustl.edu 37 1 41503061 41503061 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 41503061 41503061 A C SNP SCMH1 ENST00000326197 human ensembl 70_37 -1 known missense c.1621 p.S541A 0.939 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 15 9 37.50 36 0 0.00 SCMH1 22955 genome.wustl.edu 37 1 41651896 41651896 + RNA SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 41651896 41651896 A C SNP SCMH1 ENST00000488592 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors SCMH1 HGNC ENSG00000010803 35 5 12.50 52 0 0.00 SCML1 6322 genome.wustl.edu 37 X 17768235 17768235 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 17768235 17768235 C T SNP SCML1 ENST00000380041 human ensembl 70_37 +1 known silent c.525 p.L175 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 37 7 15.91 20 0 0.00 SCML2 10389 genome.wustl.edu 37 X 18283732 18283732 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 18283732 18283732 C G SNP SCML2 ENST00000251900 human ensembl 70_37 -1 known missense c.921 p.R307S 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 255 74 22.36 351 0 0.00 SCML4 256380 genome.wustl.edu 37 6 108066240 108066240 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 108066240 108066240 C T SNP SCML4 ENST00000369021 human ensembl 70_37 -1 known missense c.508 p.D170N 1.000 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 59 10 14.49 32 0 0.00 SCML4 256380 genome.wustl.edu 37 6 108070974 108070974 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108070974 108070974 G A SNP SCML4 ENST00000369021 human ensembl 70_37 -1 known missense c.113 p.P38L 0.998 NULL pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 17 13 43.33 55 0 0.00 SCN10A 6336 genome.wustl.edu 37 3 38739815 38739815 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 38739815 38739815 C T SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known silent c.4896 p.V1632 0.019 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 54 25 31.65 73 0 0.00 SCN10A 6336 genome.wustl.edu 37 3 38743431 38743431 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 38743431 38743431 A C SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.4556 p.F1519C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 55 20 26.67 130 0 0.00 SCN10A 6336 genome.wustl.edu 37 3 38768438 38768438 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 38768438 38768438 G A SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.2746 p.R916W 0.747 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 44 15 25.42 59 0 0.00 SCN10A 6336 genome.wustl.edu 37 3 38781028 38781028 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38781028 38781028 G C SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.2258 p.S753C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 19 5 20.83 18 0 0.00 SCN10A 6336 genome.wustl.edu 37 3 38793865 38793865 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 38793865 38793865 G A SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.1600 p.R534W 0.002 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 7 12 63.16 46 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38888327 38888327 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38888327 38888327 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.5234 p.R1745Q 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 76 64 45.71 209 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38888598 38888598 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 38888598 38888598 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.4963 p.E1655K 0.880 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 48 9 15.79 50 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38889083 38889083 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 38889083 38889083 G A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.4478 p.S1493L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 21 16 42.11 32 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38924826 38924826 + Missense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 38924826 38924826 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.3117 p.W1039C 0.023 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 22 3 12.00 47 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38926868 38926868 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38926868 38926868 G C SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known nonsense c.2975 p.S992* 0.749 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 88 16 15.38 118 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38936403 38936403 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38936403 38936403 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.2456 p.R819I 0.364 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 3 6 66.67 12 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38938634 38938634 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 38938634 38938634 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.2105 p.G702E 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 26 6 18.75 29 0 0.00 SCN11A 11280 genome.wustl.edu 37 3 38946787 38946787 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38946787 38946787 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.1499 p.R500L 0.980 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 147 33 18.33 174 0 0.00 SCN1A 6323 genome.wustl.edu 37 2 166848682 166848682 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 166848682 166848682 G C SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.5103 p.I1701M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 55 24 30.38 77 0 0.00 SCN1A 6323 genome.wustl.edu 37 2 166848733 166848733 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 166848733 166848733 G A SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known silent c.5052 p.Y1684 0.934 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 91 59 39.33 129 0 0.00 SCN1A 6323 genome.wustl.edu 37 2 166894582 166894582 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 166894582 166894582 C T SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.2650 p.G884S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 40 14 25.93 70 0 0.00 SCN1A 6323 genome.wustl.edu 37 2 166896082 166896082 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 166896082 166896082 C T SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.2440 p.E814K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 28 10 26.32 28 0 0.00 SCN1B 6324 genome.wustl.edu 37 19 35523455 35523455 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 35523455 35523455 G A SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.64 p.V22M 0.999 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 14 14 50.00 42 0 0.00 SCN1B 6324 genome.wustl.edu 37 19 35524562 35524562 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 35524562 35524562 G A SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.367 p.V123I 1.000 pfam_Immunoglobulin,pfam_Ig_V-set pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 73 24 24.74 65 0 0.00 SCN1B 6324 genome.wustl.edu 37 19 35530121 35530121 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 35530121 35530121 G C SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.549 p.K183N 1.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 72 12 14.29 66 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166152517 166152517 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 166152517 166152517 C G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.184 p.L62V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 60 19 24.05 65 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166165187 166165187 + Missense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 166165187 166165187 C A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.488 p.T163K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 32 4 11.11 54 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166167041 166167041 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 166167041 166167041 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.906 p.G302 0.640 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 46 17 26.98 48 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166170502 166170502 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 166170502 166170502 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.1267 p.V423M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 38 13 25.49 86 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166179831 166179831 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166179831 166179831 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.1837 p.V613M 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 16 15 48.39 36 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166188012 166188012 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 166188012 166188012 C G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.2322 p.L774 0.966 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 51 14 21.54 47 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166198953 166198953 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166198953 166198953 T G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.2536 p.L846V 0.452 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 26 6 18.75 40 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166211085 166211085 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 166211085 166211085 C T SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.3303 p.L1101 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 53 40 43.01 78 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166226734 166226734 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 166226734 166226734 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.3774 p.L1258 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 62 8 11.27 47 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166237192 166237192 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166237192 166237192 C A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.4399 p.L1467I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 23 8 25.81 46 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166245843 166245843 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 166245843 166245843 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.5527 p.D1843N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 74 9 10.71 72 0 0.00 SCN2A 6326 genome.wustl.edu 37 2 166246238 166246238 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166246238 166246238 G T SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.5922 p.S1974 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 12 7 36.84 43 0 0.00 SCN2B 6327 genome.wustl.edu 37 11 118037789 118037789 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 118037789 118037789 C T SNP SCN2B ENST00000278947 human ensembl 70_37 -1 known missense c.461 p.R154Q 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 10 8 44.44 25 0 0.00 SCN2B 6327 genome.wustl.edu 37 11 118038997 118038997 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 118038997 118038997 C T SNP SCN2B ENST00000278947 human ensembl 70_37 -1 known missense c.251 p.R84H 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 16 3 15.79 30 0 0.00 SCN3A 6328 genome.wustl.edu 37 2 165946749 165946749 + Missense_Mutation SNP T T A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 2 165946749 165946749 T A SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.5914 p.S1972C 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 70 8 10.26 60 0 0.00 SCN3A 6328 genome.wustl.edu 37 2 165947650 165947650 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 165947650 165947650 G C SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.5013 p.I1671M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 113 51 30.91 77 0 0.00 SCN3A 6328 genome.wustl.edu 37 2 165956849 165956849 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 165956849 165956849 C G SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.3929 p.R1310T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 9 10 52.63 25 0 0.00 SCN3A 6328 genome.wustl.edu 37 2 165984182 165984182 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 165984182 165984182 C T SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.3352 p.E1118K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 36 19 34.55 62 0 0.00 SCN3A 6328 genome.wustl.edu 37 2 166027044 166027044 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 166027044 166027044 C T SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.279 p.M93I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 13 3 18.75 20 0 0.00 SCN3B 55800 genome.wustl.edu 37 11 123508894 123508894 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 11 123508894 123508894 G A SNP SCN3B ENST00000299333 human ensembl 70_37 -1 known missense c.584 p.A195V 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SCN3B HGNC ENSG00000166257 50 20 28.57 73 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62019319 62019319 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 62019319 62019319 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4323 p.F1441 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 16 5 23.81 18 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62020421 62020421 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 62020421 62020421 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4053 p.T1351 0.453 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 122 34 21.66 184 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62020421 62020421 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 62020421 62020421 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4053 p.T1351 0.453 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 37 24 39.34 56 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62022075 62022075 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 62022075 62022075 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3870 p.F1290 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 42 8 16.00 40 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62022108 62022108 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 62022108 62022108 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3837 p.I1279 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 44 10 18.52 43 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62022990 62022990 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 62022990 62022990 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3450 p.V1150 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 28 25 47.17 50 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62025267 62025267 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62025267 62025267 C G SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.3301 p.D1101H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 50 27 35.06 41 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62029154 62029154 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62029154 62029154 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.2483 p.R828H 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 3 4 57.14 12 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62034657 62034657 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62034657 62034657 G C SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.2241 p.F747L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 42 9 17.65 71 0 0.00 SCN4A 6329 genome.wustl.edu 37 17 62041962 62041962 + Missense_Mutation SNP T T C TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 62041962 62041962 T C SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.1318 p.N440D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 37 7 15.91 34 0 0.00 SCN4B 6330 genome.wustl.edu 37 11 118006542 118006542 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 118006542 118006542 C G SNP SCN4B ENST00000423160 human ensembl 70_37 -1 known rna NULL NULL 0.113 - - - no_errors SCN4B HGNC ENSG00000177098 39 25 39.06 45 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38592173 38592173 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 38592173 38592173 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.5690 p.R1897Q 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 70 35 33.33 190 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38595846 38595846 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 38595846 38595846 C A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.4737 p.L1579 0.926 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 35 4 10.26 47 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38627473 38627473 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 38627473 38627473 G A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.2496 p.I832 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 49 28 36.36 107 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38645227 38645227 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 38645227 38645227 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.1866 p.V622 0.811 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 49 6 10.91 61 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38648201 38648201 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 38648201 38648201 G A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.1099 p.R367C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 26 29 52.73 70 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38648291 38648291 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38648291 38648291 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.1009 p.E337K 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 102 24 19.05 145 0 0.00 SCN5A 6331 genome.wustl.edu 37 3 38674567 38674567 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 38674567 38674567 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 29 6 17.14 55 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167262620 167262620 + Missense_Mutation SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 167262620 167262620 T G SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.4519 p.N1507H 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 25 4 13.79 43 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167266421 167266421 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 167266421 167266421 C T SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.3736 p.D1246N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 33 6 15.38 32 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167289033 167289033 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 167289033 167289033 G C SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.2387 p.S796C 0.947 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 19 15 44.12 54 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167289236 167289236 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 167289236 167289236 C T SNP SCN7A ENST00000424326 human ensembl 70_37 -1 known missense c.2278 p.E760K 0.999 NULL pfam_Ion_trans_dom - no_errors SCN7A HGNC ENSG00000136546 35 6 14.63 36 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167298100 167298100 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 167298100 167298100 C G SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.1963 p.E655Q 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 33 9 21.43 86 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167319021 167319021 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 2 167319021 167319021 C T SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.961 p.V321M 0.013 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 37 17 31.48 57 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167319025 167319025 + Silent SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 167319025 167319025 T A SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known silent c.957 p.G319 0.242 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 20 11 35.48 39 0 0.00 SCN7A 6332 genome.wustl.edu 37 2 167328850 167328850 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 167328850 167328850 G A SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known silent c.549 p.L183 0.482 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 25 10 28.57 31 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52139775 52139775 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 52139775 52139775 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2087 p.R696T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 36 29 44.62 44 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52139775 52139775 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 52139775 52139775 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2087 p.R696T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 63 27 30.00 111 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52159647 52159647 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 52159647 52159647 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2737 p.E913K 0.987 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 71 36 33.64 104 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52159725 52159725 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 52159725 52159725 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2815 p.E939Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 324 132 28.95 490 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52159746 52159746 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 52159746 52159746 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2836 p.E946K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 64 34 34.69 72 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52163093 52163093 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 52163093 52163093 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.3346 p.E1116K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 16 26 61.90 40 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52168059 52168059 + Silent SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 12 52168059 52168059 C A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known silent c.3732 p.I1244 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 134 53 28.34 187 1 0.53 SCN8A 6334 genome.wustl.edu 37 12 52168096 52168096 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 52168096 52168096 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.3769 p.V1257I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 83 14 14.43 81 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52180553 52180553 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 52180553 52180553 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known silent c.4170 p.K1390 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 48 7 12.73 60 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52200522 52200522 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 52200522 52200522 T G SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.5252 p.I1751S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 18 15 45.45 61 0 0.00 SCN8A 6334 genome.wustl.edu 37 12 52200842 52200842 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 52200842 52200842 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.5572 p.D1858N 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 30 15 33.33 36 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167055379 167055379 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 167055379 167055379 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.5773 p.D1925N 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 52 23 30.67 65 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167055593 167055593 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 167055593 167055593 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known silent c.5559 p.E1853 0.013 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 42 37 46.84 79 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167055975 167055975 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 167055975 167055975 G A SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.5177 p.S1726L 0.653 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 46 8 14.81 53 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167056375 167056375 + Splice_Site SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 167056375 167056375 C A SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known splice_site c.4778-1 e26-1 1.000 - - - no_errors SCN9A HGNC ENSG00000169432 22 11 33.33 63 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167108373 167108373 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 167108373 167108373 G C SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known nonsense c.3377 p.S1126* 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 61 12 16.22 63 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167138232 167138232 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 167138232 167138232 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known silent c.2064 p.Q688 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 46 7 13.21 26 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167141147 167141147 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167141147 167141147 C G SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1793 p.R598P 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 104 39 27.27 74 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167142954 167142954 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167142954 167142954 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known silent c.1497 p.E499 0.999 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 70 24 25.53 66 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167143087 167143087 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167143087 167143087 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1364 p.R455K 0.875 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 22 7 24.14 13 0 0.00 SCN9A 6335 genome.wustl.edu 37 2 167143093 167143093 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 167143093 167143093 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known missense c.1358 p.R453K 0.830 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 22 7 24.14 12 0 0.00 SCNM1 79005 genome.wustl.edu 37 1 151139288 151139288 + RNA SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 151139288 151139288 G A SNP SCNM1 ENST00000497147 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors SCNM1 HGNC ENSG00000163156 3 4 57.14 8 0 0.00 SCNN1A 6337 genome.wustl.edu 37 12 6457040 6457040 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 6457040 6457040 C T SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known silent c.2075 p.*692 0.992 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 24 20 45.45 55 0 0.00 SCNN1A 6337 genome.wustl.edu 37 12 6457203 6457203 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6457203 6457203 G A SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.1912 p.H638Y 0.017 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 25 23 47.92 37 0 0.00 SCNN1A 6337 genome.wustl.edu 37 12 6464457 6464457 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6464457 6464457 G T SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.1124 p.T375N 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 49 43 46.74 31 0 0.00 SCNN1A 6337 genome.wustl.edu 37 12 6472857 6472857 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6472857 6472857 C G SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.436 p.E146Q 0.715 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 53 13 19.70 42 0 0.00 SCNN1B 6338 genome.wustl.edu 37 16 23366649 23366649 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 23366649 23366649 C T SNP SCNN1B ENST00000307331 human ensembl 70_37 +1 known silent c.750 p.F250 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 43 11 20.37 53 0 0.00 SCNN1D 6339 genome.wustl.edu 37 1 1217634 1217634 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1217634 1217634 C G SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.290 p.S97C 0.010 NULL pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 21 11 34.38 24 0 0.00 SCNN1D 6339 genome.wustl.edu 37 1 1221039 1221039 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 1221039 1221039 G A SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.553 p.G185S 0.000 NULL pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 28 18 39.13 30 0 0.00 SCNN1D 6339 genome.wustl.edu 37 1 1221594 1221594 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 1221594 1221594 G T SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.847 p.V283F 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 12 4 25.00 28 0 0.00 SCNN1D 6339 genome.wustl.edu 37 1 1223059 1223059 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1223059 1223059 G A SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.1406 p.G469D 0.310 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 19 3 13.64 30 0 0.00 SCNN1D 6339 genome.wustl.edu 37 1 1225898 1225898 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1225898 1225898 C G SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.1822 p.R608G 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 78 22 22.00 79 0 0.00 SCNN1G 6340 genome.wustl.edu 37 16 23197694 23197694 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 23197694 23197694 C G SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known silent c.102 p.L34 0.329 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 16 13 44.83 36 0 0.00 SCNN1G 6340 genome.wustl.edu 37 16 23224211 23224211 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 23224211 23224211 C T SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1427 p.S476L 0.968 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 51 13 20.00 82 0 0.00 SCNN1G 6340 genome.wustl.edu 37 16 23224213 23224213 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 23224213 23224213 G A SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1429 p.E477K 0.972 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 74 29 28.16 69 0 0.00 SCNN1G 6340 genome.wustl.edu 37 16 23224213 23224213 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 23224213 23224213 G C SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1429 p.E477Q 0.972 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 31 15 32.61 47 0 0.00 SCNN1G 6340 genome.wustl.edu 37 16 23226541 23226541 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 23226541 23226541 G A SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known silent c.1701 p.Q567 1.000 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 20 11 35.48 39 0 0.00 SCO1 6341 genome.wustl.edu 37 17 10590073 10590073 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 10590073 10590073 C A SNP SCO1 ENST00000255390 human ensembl 70_37 -1 known missense c.742 p.G248C 1.000 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC ENSG00000133028 35 21 37.50 77 0 0.00 SCO1 6341 genome.wustl.edu 37 17 10600725 10600725 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 10600725 10600725 C T SNP SCO1 ENST00000255390 human ensembl 70_37 -1 known missense c.100 p.E34K 0.000 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC ENSG00000133028 31 11 25.58 60 0 0.00 SCO1 6341 genome.wustl.edu 37 17 10600752 10600752 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 10600752 10600752 G C SNP SCO1 ENST00000255390 human ensembl 70_37 -1 known missense c.73 p.R25G 0.001 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC ENSG00000133028 17 8 32.00 27 0 0.00 SCO2 9997 genome.wustl.edu 37 22 50962089 50962089 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 50962089 50962089 G T SNP SCO2 ENST00000252785 human ensembl 70_37 -1 known nonsense c.752 p.S251* 0.009 superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 40 28 40.58 97 0 0.00 SCO2 9997 genome.wustl.edu 37 22 50962744 50962744 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 50962744 50962744 G C SNP SCO2 ENST00000252785 human ensembl 70_37 -1 known missense c.97 p.L33V 0.000 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 20 6 23.08 37 0 0.00 SCOC 60592 genome.wustl.edu 37 4 141264834 141264834 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 4 141264834 141264834 C G SNP SCOC ENST00000338517 human ensembl 70_37 +1 known missense c.42 p.F14L 1.000 NULL pfam_DUF2205_coiled-coil - no_errors SCOC HGNC ENSG00000153130 64 46 41.82 112 0 0.00 SCP2 6342 genome.wustl.edu 37 1 53413706 53413706 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 53413706 53413706 G C SNP SCP2 ENST00000371514 human ensembl 70_37 +1 known missense c.153 p.Q51H 0.997 pfam_Thiolase_N,superfamily_Thiolase-like pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 23 16 41.03 40 0 0.00 SCPEP1 59342 genome.wustl.edu 37 17 55055543 55055543 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 17 55055543 55055543 C T SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known missense c.23 p.S8F 0.000 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 40 26 39.39 41 0 0.00 SCPEP1 59342 genome.wustl.edu 37 17 55058454 55058454 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 55058454 55058454 G C SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known missense c.88 p.D30H 0.000 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 38 19 33.33 54 0 0.00 SCPEP1 59342 genome.wustl.edu 37 17 55065599 55065599 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55065599 55065599 C G SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known nonsense c.494 p.S165* 1.000 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 43 21 32.81 70 0 0.00 SCPEP1 59342 genome.wustl.edu 37 17 55072350 55072350 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 55072350 55072350 C A SNP SCPEP1 ENST00000572591 human ensembl 70_37 +1 known nonsense c.357 p.C119* 1.000 NULL pfam_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 35 4 10.26 27 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144874460 144874460 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144874460 144874460 C T SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.4444 p.E1482K 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 6 4 40.00 11 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144876128 144876128 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144876128 144876128 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.3851 p.P1284L 0.003 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 33 50 60.24 75 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144877630 144877630 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 144877630 144877630 G C SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.3674 p.S1225C 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 77 16 17.20 83 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144887379 144887379 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 8 144887379 144887379 C T SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.2573 p.R858H 0.109 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 39 6 13.33 48 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144889724 144889724 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144889724 144889724 C G SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.2176 p.E726Q 1.000 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 80 29 26.61 67 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144891727 144891727 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 144891727 144891727 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known silent c.1692 p.Y564 0.337 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 37 17 31.48 30 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144894477 144894477 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 144894477 144894477 C G SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 54 19 25.68 50 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144896051 144896051 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 144896051 144896051 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.293 p.P98L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 35 13 27.08 85 0 0.00 SCRIB 23513 genome.wustl.edu 37 8 144896062 144896062 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144896062 144896062 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known silent c.282 p.I94 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 18 23 56.10 39 0 0.00 SCRN1 9805 genome.wustl.edu 37 7 29994813 29994813 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 29994813 29994813 A G SNP SCRN1 ENST00000434476 human ensembl 70_37 -1 known missense c.383 p.L128P 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 55 24 30.38 61 0 0.00 SCRN2 90507 genome.wustl.edu 37 17 45918126 45918126 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 45918126 45918126 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known silent c.84 p.I28 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 33 7 17.50 28 0 0.00 SCRN2 90507 genome.wustl.edu 37 17 45918151 45918151 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 45918151 45918151 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.59 p.P20L 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 44 19 30.16 40 0 0.00 SCRN2 90507 genome.wustl.edu 37 17 45918160 45918160 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 45918160 45918160 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.50 p.S17F 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 42 18 30.00 42 0 0.00 SCRN2 90507 genome.wustl.edu 37 17 45918202 45918202 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 45918202 45918202 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.8 p.S3L 0.007 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 23 23 50.00 43 0 0.00 SCRN3 79634 genome.wustl.edu 37 2 175260629 175260629 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 175260629 175260629 G C SNP SCRN3 ENST00000488349 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SCRN3 HGNC ENSG00000144306 29 10 25.64 16 0 0.00 SCRN3 79634 genome.wustl.edu 37 2 175265809 175265809 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 175265809 175265809 G C SNP SCRN3 ENST00000272732 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 42 7 14.29 56 0 0.00 SCRT1 83482 genome.wustl.edu 37 8 145556955 145556955 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 145556955 145556955 G C SNP SCRT1 ENST00000332135 human ensembl 70_37 -1 known missense c.939 p.F313L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 55 12 17.91 51 0 0.00 SCTR 6344 genome.wustl.edu 37 2 120209612 120209612 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 120209612 120209612 G A SNP SCTR ENST00000019103 human ensembl 70_37 -1 known missense c.895 p.R299C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 20 5 20.00 49 0 0.00 SCUBE1 80274 genome.wustl.edu 37 22 43604187 43604187 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 43604187 43604187 G A SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known silent c.2625 p.Y875 0.989 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 39 34 46.58 84 0 0.00 SCUBE1 80274 genome.wustl.edu 37 22 43606203 43606203 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 43606203 43606203 G T SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known silent c.2427 p.I809 0.993 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 33 4 10.81 36 0 0.00 SCUBE1 80274 genome.wustl.edu 37 22 43608440 43608440 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 43608440 43608440 C A SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known nonsense c.2212 p.E738* 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 98 36 26.87 150 0 0.00 SCUBE1 80274 genome.wustl.edu 37 22 43627873 43627873 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 43627873 43627873 C T SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 11 15 57.69 13 0 0.00 SCUBE2 57758 genome.wustl.edu 37 11 9055196 9055196 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 9055196 9055196 G T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.2150 p.A717D 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 27 4 12.90 24 0 0.00 SCUBE2 57758 genome.wustl.edu 37 11 9072167 9072167 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 9072167 9072167 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.1625 p.R542Q 0.957 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 70 13 15.66 66 0 0.00 SCUBE2 57758 genome.wustl.edu 37 11 9074758 9074758 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 9074758 9074758 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known silent c.1335 p.V445 0.960 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 18 5 21.74 38 0 0.00 SCUBE2 57758 genome.wustl.edu 37 11 9080863 9080863 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 9080863 9080863 C A SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.1077 p.E359D 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 21 16 43.24 55 0 0.00 SCUBE2 57758 genome.wustl.edu 37 11 9088340 9088340 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 9088340 9088340 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.664 p.G222S 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 22 17 43.59 24 0 0.00 SCUBE3 222663 genome.wustl.edu 37 6 35210024 35210024 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35210024 35210024 C G SNP SCUBE3 ENST00000394681 human ensembl 70_37 +1 known missense c.1509 p.I503M 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 24 20 45.45 57 0 0.00 SCUBE3 222663 genome.wustl.edu 37 6 35214037 35214037 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 35214037 35214037 C T SNP SCUBE3 ENST00000394681 human ensembl 70_37 +1 known missense c.2855 p.S952F 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 68 9 11.69 53 0 0.00 SCYL2 55681 genome.wustl.edu 37 12 100704857 100704857 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100704857 100704857 G A SNP SCYL2 ENST00000360820 human ensembl 70_37 +1 known silent c.516 p.V172 0.994 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 53 32 37.65 82 0 0.00 SCYL3 57147 genome.wustl.edu 37 1 169823722 169823722 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 169823722 169823722 G A SNP SCYL3 ENST00000367770 human ensembl 70_37 -1 known missense c.1858 p.P620S 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 82 45 35.43 127 1 0.78 SDAD1 55153 genome.wustl.edu 37 4 76911940 76911940 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76911940 76911940 G C SNP SDAD1 ENST00000356260 human ensembl 70_37 -1 known missense c.55 p.L19V 1.000 superfamily_ARM-type_fold pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 83 43 34.13 109 0 0.00 SDAD1P1 157489 genome.wustl.edu 37 8 26237175 26237175 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 26237175 26237175 G A SNP SDAD1P1 ENST00000519902 human ensembl 70_37 -1 known rna NULL NULL 0.750 - - - no_errors SDAD1P1 HGNC ENSG00000228451 54 48 46.60 34 0 0.00 SDAD1P1 157489 genome.wustl.edu 37 8 26238480 26238480 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 26238480 26238480 C T SNP SDAD1P1 ENST00000519902 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 47 31 39.74 72 0 0.00 SDC1 6382 genome.wustl.edu 37 2 20402528 20402528 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20402528 20402528 C T SNP SDC1 ENST00000254351 human ensembl 70_37 -1 known silent c.932 p.*311 1.000 NULL pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 25 9 26.47 39 0 0.00 SDC1 6382 genome.wustl.edu 37 2 20403710 20403710 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 20403710 20403710 G C SNP SDC1 ENST00000254351 human ensembl 70_37 -1 known missense c.491 p.T164S 0.938 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 42 21 33.33 78 0 0.00 SDC2 6383 genome.wustl.edu 37 8 97614702 97614702 + Silent SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 97614702 97614702 A G SNP SDC2 ENST00000302190 human ensembl 70_37 +1 known silent c.252 p.P84 0.006 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 40 19 32.20 39 0 0.00 SDC4 6385 genome.wustl.edu 37 20 43955982 43955982 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 43955982 43955982 C T SNP SDC4 ENST00000372733 human ensembl 70_37 -1 known silent c.519 p.K173 1.000 pfam_Syndecan,smart_Neurexin-like pfam_Syndecan,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 32 4 11.11 30 0 0.00 SDC4 6385 genome.wustl.edu 37 20 43959178 43959178 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 43959178 43959178 C T SNP SDC4 ENST00000372733 human ensembl 70_37 -1 known silent c.273 p.E91 0.707 NULL pfam_Syndecan,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 43 23 34.33 98 0 0.00 SDCBP 6386 genome.wustl.edu 37 8 59484844 59484844 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 59484844 59484844 G T SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.211 p.A71S 0.888 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 19 13 40.62 33 0 0.00 SDCBP 6386 genome.wustl.edu 37 8 59490703 59490703 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 59490703 59490703 G C SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.514 p.D172H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 97 15 13.27 116 0 0.00 SDCBP 6386 genome.wustl.edu 37 8 59493158 59493158 + Missense_Mutation SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 59493158 59493158 T C SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.833 p.I278T 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 38 25 39.06 83 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139298550 139298550 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139298550 139298550 G A SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known nonsense c.1165 p.Q389* 1.000 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 38 21 35.59 57 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139299684 139299684 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139299684 139299684 T G SNP SDCCAG3 ENST00000461693 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SDCCAG3 HGNC ENSG00000165689 16 10 38.46 16 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139301724 139301724 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 9 139301724 139301724 G A SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known missense c.692 p.A231V 0.935 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 34 4 10.53 32 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139302311 139302311 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139302311 139302311 C T SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known silent c.369 p.S123 0.000 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 156 26 14.29 242 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139302311 139302311 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139302311 139302311 C T SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known silent c.369 p.S123 0.000 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 48 14 22.58 37 0 0.00 SDCCAG3 10807 genome.wustl.edu 37 9 139302363 139302363 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139302363 139302363 G C SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known missense c.317 p.A106G 0.999 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 32 13 28.89 55 0 0.00 SDCCAG8 10806 genome.wustl.edu 37 1 243507587 243507587 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 243507587 243507587 G A SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.1427 p.R476K 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 19 7 26.92 25 0 0.00 SDCCAG8 10806 genome.wustl.edu 37 1 243507589 243507589 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 243507589 243507589 G C SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.1429 p.E477Q 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 13 7 35.00 24 0 0.00 SDCCAG8 10806 genome.wustl.edu 37 1 243579062 243579062 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 243579062 243579062 C T SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known nonsense c.1675 p.Q559* 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 30 9 23.08 23 0 0.00 SDCCAG8 10806 genome.wustl.edu 37 1 243652402 243652402 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 243652402 243652402 G C SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.2072 p.R691T 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 109 28 20.44 98 0 0.00 SDE2 163859 genome.wustl.edu 37 1 226179020 226179020 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226179020 226179020 C T SNP SDE2 ENST00000272091 human ensembl 70_37 -1 known missense c.565 p.E189K 0.145 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 42 19 31.15 57 0 0.00 SDE2 163859 genome.wustl.edu 37 1 226180117 226180117 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 226180117 226180117 C G SNP SDE2 ENST00000272091 human ensembl 70_37 -1 known missense c.502 p.E168Q 1.000 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 44 10 18.52 35 0 0.00 SDF2 6388 genome.wustl.edu 37 17 26989106 26989106 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 26989106 26989106 C A SNP SDF2 ENST00000585749 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SDF2 HGNC ENSG00000132581 37 28 43.08 61 0 0.00 SDHA 6389 genome.wustl.edu 37 5 224502 224502 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 224502 224502 C T SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.178 p.H60Y 1.000 tigrfam_Succ_DH_flav_su_fwd pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 186 24 11.43 269 0 0.00 SDHA 6389 genome.wustl.edu 37 5 224575 224575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 224575 224575 G A SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.251 p.G84E 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 143 48 25.13 144 0 0.00 SDHA 6389 genome.wustl.edu 37 5 226026 226026 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 226026 226026 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.485 p.R162T 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 126 18 12.50 115 0 0.00 SDHA 6389 genome.wustl.edu 37 5 228353 228353 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 228353 228353 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known silent c.675 p.L225 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 44 19 30.16 81 0 0.00 SDHA 6389 genome.wustl.edu 37 5 235338 235338 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 235338 235338 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.1144 p.G382R 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 42 5 10.64 82 0 0.00 SDHA 6389 genome.wustl.edu 37 5 236602 236602 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 236602 236602 G A SNP SDHA ENST00000264932 human ensembl 70_37 +1 known silent c.1320 p.E440 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 116 16 12.12 139 0 0.00 SDHAF2 54949 genome.wustl.edu 37 11 61197647 61197647 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61197647 61197647 C T SNP SDHAF2 ENST00000301761 human ensembl 70_37 +1 known missense c.29 p.S10L 0.009 NULL pfam_DUF339,superfamily_DUF339 - no_errors SDHAF2 HGNC ENSG00000167985 78 33 29.73 88 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195692347 195692347 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 195692347 195692347 G A SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 11 7 38.89 11 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195692347 195692347 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 195692347 195692347 G A SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 62 29 31.52 18 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195692388 195692388 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195692388 195692388 G C SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 39 5 11.36 39 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195692419 195692419 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 195692419 195692419 C G SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 0.082 - - - no_errors SDHAP1 HGNC ENSG00000185485 111 41 26.62 43 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195698251 195698251 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195698251 195698251 C G SNP SDHAP1 ENST00000427841 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 133 25 15.82 113 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195711042 195711042 + RNA SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 195711042 195711042 C G SNP SDHAP1 ENST00000413474 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SDHAP1 HGNC ENSG00000185485 21 28 57.14 34 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195711096 195711096 + RNA SNP G G C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 3 195711096 195711096 G C SNP SDHAP1 ENST00000413474 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 100 27 21.26 100 0 0.00 SDHAP1 255812 genome.wustl.edu 37 3 195713453 195713453 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195713453 195713453 C A SNP SDHAP1 ENST00000413474 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 138 20 12.66 123 0 0.00 SDHB 6390 genome.wustl.edu 37 1 17349636 17349636 + RNA SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 17349636 17349636 T A SNP SDHB ENST00000475049 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SDHB HGNC ENSG00000117118 43 27 38.57 27 0 0.00 SDHB 6390 genome.wustl.edu 37 1 17350561 17350561 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 17350561 17350561 G C SNP SDHB ENST00000375499 human ensembl 70_37 -1 known silent c.549 p.L183 0.741 superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 26 12 31.58 31 0 0.00 SDHB 6390 genome.wustl.edu 37 1 17371366 17371366 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 17371366 17371366 C G SNP SDHB ENST00000375499 human ensembl 70_37 -1 known missense c.90 p.Q30H 1.000 NULL superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 20 11 35.48 30 0 0.00 SDHC 6391 genome.wustl.edu 37 1 161284265 161284265 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161284265 161284265 G C SNP SDHC ENST00000515731 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SDHC HGNC ENSG00000143252 69 31 31.00 99 0 0.00 SDHC 6391 genome.wustl.edu 37 1 161326588 161326588 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161326588 161326588 C T SNP SDHC ENST00000367975 human ensembl 70_37 +1 known silent c.363 p.V121 0.921 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 - no_errors SDHC HGNC ENSG00000143252 64 37 36.63 73 0 0.00 SDHC 6391 genome.wustl.edu 37 1 161326591 161326591 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 161326591 161326591 C T SNP SDHC ENST00000367975 human ensembl 70_37 +1 known silent c.366 p.F122 0.903 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 - no_errors SDHC HGNC ENSG00000143252 81 31 27.68 97 0 0.00 SDHD 6392 genome.wustl.edu 37 11 111965693 111965693 + Nonstop_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 111965693 111965693 G C SNP SDHD ENST00000375549 human ensembl 70_37 +1 known nonstop c.479 p.*160S 1.000 NULL pfam_Cyt_b_succ_DH_CybS - no_errors SDHD HGNC ENSG00000204370 214 39 15.42 248 0 0.00 SDK1 221935 genome.wustl.edu 37 7 3991463 3991463 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 3991463 3991463 C T SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.057 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 16 10 38.46 28 0 0.00 SDK1 221935 genome.wustl.edu 37 7 3998591 3998591 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 3998591 3998591 G C SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.1179 p.E393D 0.041 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 129 54 29.51 230 0 0.00 SDK1 221935 genome.wustl.edu 37 7 4011173 4011173 + Frame_Shift_Del DEL C C - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 4011173 4011173 C - DEL SDK1 ENST00000404826 human ensembl 70_37 +1 known frame_shift_del c.1790 p.T598fs 0.961 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 30 9 23.08 19 0 0.00 SDK1 221935 genome.wustl.edu 37 7 4050690 4050690 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 4050690 4050690 C T SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.2224 p.R742W 0.659 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 26 18 40.91 46 0 0.00 SDK1 221935 genome.wustl.edu 37 7 4213923 4213923 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 4213923 4213923 G A SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.4870 p.E1624K 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 41 20 32.79 57 0 0.00 SDK1 221935 genome.wustl.edu 37 7 4260916 4260916 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 4260916 4260916 C G SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.5747 p.S1916C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 43 5 10.42 75 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71354234 71354234 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 71354234 71354234 G C SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.5577 p.I1859M 0.901 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 36 6 14.29 64 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71354291 71354291 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 71354291 71354291 G A SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known silent c.5520 p.I1840 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 60 15 20.00 63 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71380101 71380101 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 71380101 71380101 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.4619 p.R1540Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 44 21 32.31 79 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71420166 71420166 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 71420166 71420166 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1649 p.R550K 0.013 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 27 14 34.15 41 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71427680 71427680 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 71427680 71427680 G A SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1441 p.R481W 0.826 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 15 8 34.78 57 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71429875 71429875 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 71429875 71429875 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known silent c.1308 p.Q436 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 39 15 27.78 38 0 0.00 SDK2 54549 genome.wustl.edu 37 17 71431603 71431603 + Missense_Mutation SNP T T G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 71431603 71431603 T G SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1181 p.Y394S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 19 4 17.39 14 0 0.00 SDPR 8436 genome.wustl.edu 37 2 192701229 192701229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 192701229 192701229 C G SNP SDPR ENST00000304141 human ensembl 70_37 -1 known missense c.698 p.R233T 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 250 105 29.58 392 1 0.25 SDPR 8436 genome.wustl.edu 37 2 192711513 192711513 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 192711513 192711513 T A SNP SDPR ENST00000304141 human ensembl 70_37 -1 known missense c.139 p.I47F 0.999 NULL NULL - no_errors SDPR HGNC ENSG00000168497 101 23 18.55 104 0 0.00 SDR16C5 195814 genome.wustl.edu 37 8 57214059 57214059 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 57214059 57214059 C T SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.910 p.D304N 0.034 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 40 14 25.93 52 0 0.00 SDR16C5 195814 genome.wustl.edu 37 8 57218217 57218217 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 57218217 57218217 G T SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.775 p.L259I 0.992 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 10 11 52.38 62 0 0.00 SDR16C5 195814 genome.wustl.edu 37 8 57219286 57219286 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 57219286 57219286 A G SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.659 p.I220T 0.976 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 16 6 27.27 15 0 0.00 SDR39U1 56948 genome.wustl.edu 37 14 24909401 24909401 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 24909401 24909401 C T SNP SDR39U1 ENST00000399395 human ensembl 70_37 -1 known missense c.770 p.R257H 1.000 pfam_DUF1731_C,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 24 19 44.19 59 0 0.00 SDR9C7 121214 genome.wustl.edu 37 12 57324159 57324159 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 57324159 57324159 C G SNP SDR9C7 ENST00000293502 human ensembl 70_37 -1 known silent c.411 p.L137 0.941 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 12 9 42.86 31 0 0.00 SDS 10993 genome.wustl.edu 37 12 113836322 113836322 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113836322 113836322 G C SNP SDS ENST00000257549 human ensembl 70_37 -1 known missense c.423 p.I141M 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 12 9 42.86 35 0 0.00 SEBOX 645832 genome.wustl.edu 37 17 26692212 26692212 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 26692212 26692212 G A SNP SEBOX ENST00000431468 human ensembl 70_37 -1 known silent c.40 p.L14 0.327 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SEBOX HGNC ENSG00000109072 35 22 38.60 87 0 0.00 SEC14L1 6397 genome.wustl.edu 37 17 75186917 75186917 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 75186917 75186917 G A SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known silent c.96 p.L32 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 124 66 34.55 171 0 0.00 SEC14L1 6397 genome.wustl.edu 37 17 75186917 75186917 + Silent SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 75186917 75186917 G A SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known silent c.96 p.L32 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 32 31 48.44 32 0 0.00 SEC14L1 6397 genome.wustl.edu 37 17 75186956 75186956 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 75186956 75186956 C G SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known missense c.135 p.F45L 0.045 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 51 17 25.00 46 0 0.00 SEC14L1 6397 genome.wustl.edu 37 17 75205475 75205475 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 75205475 75205475 G A SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known missense c.1528 p.E510K 1.000 superfamily_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 40 11 21.57 64 0 0.00 SEC14L2 23541 genome.wustl.edu 37 22 30793105 30793105 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 30793105 30793105 G T SNP SEC14L2 ENST00000459728 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors SEC14L2 HGNC ENSG00000100003 24 22 47.83 23 0 0.00 SEC14L2 23541 genome.wustl.edu 37 22 30805241 30805241 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 30805241 30805241 C G SNP SEC14L2 ENST00000312932 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 24 10 29.41 27 0 0.00 SEC14L2 23541 genome.wustl.edu 37 22 30805418 30805418 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 22 30805418 30805418 C T SNP SEC14L2 ENST00000312932 human ensembl 70_37 +1 known missense c.523 p.L175F 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 33 45 57.69 71 0 0.00 SEC14L3 266629 genome.wustl.edu 37 22 30866217 30866217 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 30866217 30866217 C T SNP SEC14L3 ENST00000215812 human ensembl 70_37 -1 known silent c.156 p.S52 0.826 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 42 9 17.65 88 0 0.00 SEC14L3 266629 genome.wustl.edu 37 22 30867221 30867221 + Nonsense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 30867221 30867221 G C SNP SEC14L3 ENST00000434642 human ensembl 70_37 -1 known nonsense c.98 p.S33* 0.006 NULL NULL - no_errors SEC14L3 HGNC ENSG00000100012 20 33 61.11 28 0 0.00 SEC14L4 284904 genome.wustl.edu 37 22 30885864 30885864 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 30885864 30885864 C G SNP SEC14L4 ENST00000381982 human ensembl 70_37 -1 putative nonstop c.1083 p.*361Y 0.262 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 82 23 21.90 49 0 0.00 SEC14L4 284904 genome.wustl.edu 37 22 30887561 30887561 + Silent SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 30887561 30887561 G C SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known silent c.1080 p.V360 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 44 26 37.14 49 0 0.00 SEC14L4 284904 genome.wustl.edu 37 22 30890146 30890146 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 30890146 30890146 C G SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known missense c.571 p.V191L 0.009 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 49 11 18.33 57 0 0.00 SEC14L4 284904 genome.wustl.edu 37 22 30890922 30890922 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 30890922 30890922 C G SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known silent c.450 p.L150 0.974 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 44 16 26.67 73 0 0.00 SEC14L5 9717 genome.wustl.edu 37 16 5058617 5058617 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 5058617 5058617 C G SNP SEC14L5 ENST00000251170 human ensembl 70_37 +1 known missense c.1768 p.P590A 0.803 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 101 16 13.68 143 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139342933 139342933 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 139342933 139342933 G A SNP SEC16A ENST00000313084 human ensembl 70_37 -1 known silent c.99 p.I33 0.878 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 38 5 11.63 32 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139348716 139348716 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 139348716 139348716 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.5921 p.P1974L 0.004 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 41 27 39.71 78 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139357483 139357483 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 139357483 139357483 C A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.4749 p.T1583 0.006 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 33 5 13.16 31 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139357926 139357926 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139357926 139357926 T C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.4636 p.R1546G 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 18 11 37.93 18 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139368804 139368804 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139368804 139368804 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.3264 p.P1088 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 7 8 53.33 12 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139369984 139369984 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139369984 139369984 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.2084 p.P695L 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 17 12 41.38 17 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139370924 139370924 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139370924 139370924 C G SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.1144 p.E382Q 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 19 3 13.64 34 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139371076 139371076 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 139371076 139371076 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.992 p.S331F 0.002 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 24 6 20.00 31 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139371510 139371510 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139371510 139371510 C T SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.558 p.L186 0.001 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 32 10 23.81 44 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139371760 139371760 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139371760 139371760 G C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.308 p.S103C 0.011 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 52 14 21.21 41 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139371806 139371806 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139371806 139371806 G C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.262 p.Q88E 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 49 10 16.95 37 0 0.00 SEC16A 9919 genome.wustl.edu 37 9 139371806 139371806 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139371806 139371806 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 38 26 40.62 56 0 0.00 SEC16B 89866 genome.wustl.edu 37 1 177906448 177906448 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 177906448 177906448 G A SNP SEC16B ENST00000308284 human ensembl 70_37 -1 known missense c.2404 p.P802S 0.169 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 78 11 12.36 61 0 0.00 SEC22A 26984 genome.wustl.edu 37 3 122920797 122920797 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 122920797 122920797 G T SNP SEC22A ENST00000477063 human ensembl 70_37 +1 known rna NULL NULL 0.448 - - - no_errors SEC22A HGNC ENSG00000121542 174 25 12.50 173 0 0.00 SEC22B 9554 genome.wustl.edu 37 1 145116147 145116148 + RNA INS - - A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 145116147 145116148 - A INS SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.382:0.029 - - - no_errors SEC22B HGNC ENSG00000223380 13 4 23.53 14 0 0.00 SEC22B 9554 genome.wustl.edu 37 1 145116147 145116148 + RNA INS - - A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 145116147 145116148 - A INS SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.382:0.029 - - - no_errors SEC22B HGNC ENSG00000223380 27 5 15.62 16 0 0.00 SEC22B 9554 genome.wustl.edu 37 1 145116215 145116215 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 145116215 145116215 G C SNP SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.945 - - - no_errors SEC22B HGNC ENSG00000223380 27 3 10.00 26 0 0.00 SEC22B 9554 genome.wustl.edu 37 1 145116679 145116679 + RNA SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 145116679 145116679 T C SNP SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC22B HGNC ENSG00000223380 29 11 27.50 16 0 0.00 SEC23A 10484 genome.wustl.edu 37 14 39514438 39514438 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 39514438 39514438 G C SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.1828 p.Q610E 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 18 12 40.00 31 0 0.00 SEC23A 10484 genome.wustl.edu 37 14 39530996 39530996 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 39530996 39530996 C T SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.1478 p.R493H 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 23 12 34.29 66 0 0.00 SEC23A 10484 genome.wustl.edu 37 14 39561767 39561767 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 39561767 39561767 G C SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.344 p.S115C 1.000 superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 23 17 42.50 46 0 0.00 SEC23B 10483 genome.wustl.edu 37 20 18492926 18492926 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 18492926 18492926 G C SNP SEC23B ENST00000262544 human ensembl 70_37 +1 known missense c.279 p.Q93H 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 36 26 41.94 28 0 0.00 SEC23B 10483 genome.wustl.edu 37 20 18505236 18505236 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 18505236 18505236 C T SNP SEC23B ENST00000262544 human ensembl 70_37 +1 known missense c.526 p.H176Y 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 43 20 31.75 92 0 0.00 SEC23IP 11196 genome.wustl.edu 37 10 121652374 121652374 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 121652374 121652374 C T SNP SEC23IP ENST00000369075 human ensembl 70_37 +1 known missense c.80 p.S27L 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 45 34 43.04 83 0 0.00 SEC23IP 11196 genome.wustl.edu 37 10 121680416 121680416 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 121680416 121680416 G C SNP SEC23IP ENST00000369075 human ensembl 70_37 +1 known missense c.2041 p.D681H 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 36 30 45.45 63 0 0.00 SEC24A 10802 genome.wustl.edu 37 5 134002535 134002535 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 134002535 134002535 G A SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known silent c.588 p.V196 0.580 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 65 44 40.37 143 0 0.00 SEC24A 10802 genome.wustl.edu 37 5 134010893 134010893 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 134010893 134010893 C G SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known silent c.1137 p.L379 0.999 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 31 15 32.61 51 0 0.00 SEC24A 10802 genome.wustl.edu 37 5 134059323 134059323 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 134059323 134059323 G A SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known missense c.3130 p.E1044K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 70 9 11.39 58 0 0.00 SEC24B 10427 genome.wustl.edu 37 4 110415812 110415812 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 110415812 110415812 G A SNP SEC24B ENST00000265175 human ensembl 70_37 +1 known missense c.1288 p.A430T 0.002 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 21 12 36.36 41 0 0.00 SEC24B 10427 genome.wustl.edu 37 4 110427532 110427532 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 110427532 110427532 C T SNP SEC24B ENST00000265175 human ensembl 70_37 +1 known missense c.1537 p.L513F 0.994 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 24 6 20.00 29 0 0.00 SEC24B-AS1 100533182 genome.wustl.edu 37 4 110268728 110268728 + RNA SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 110268728 110268728 G C SNP SEC24B-AS1 ENST00000499713 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SEC24B-AS1 HGNC ENSG00000247950 36 5 12.20 27 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75511672 75511672 + RNA SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 75511672 75511672 C G SNP SEC24C ENST00000477008 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC24C HGNC ENSG00000176986 41 9 18.00 37 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75523302 75523302 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 75523302 75523302 G T SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known nonsense c.1042 p.G348* 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 36 4 10.00 61 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75525312 75525312 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 75525312 75525312 G A SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.1331 p.R444H 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 30 5 14.29 62 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75527640 75527640 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 75527640 75527640 G C SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.2056 p.E686Q 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 55 13 19.12 58 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75529389 75529389 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75529389 75529389 G T SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known silent c.2580 p.L860 0.150 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 50 17 25.37 56 0 0.00 SEC24C 9632 genome.wustl.edu 37 10 75530081 75530081 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 10 75530081 75530081 G A SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.2906 p.R969Q 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 29 10 25.64 56 0 0.00 SEC24D 9871 genome.wustl.edu 37 4 119653979 119653979 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 119653979 119653979 G C SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known nonsense c.2588 p.S863* 0.997 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 19 49 72.06 96 0 0.00 SEC24D 9871 genome.wustl.edu 37 4 119736623 119736623 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 119736623 119736623 C A SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known missense c.656 p.G219V 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 60 18 23.08 97 0 0.00 SEC24D 9871 genome.wustl.edu 37 4 119738426 119738426 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 119738426 119738426 G T SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known missense c.390 p.N130K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 55 22 28.57 63 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83740402 83740402 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 83740402 83740402 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.3527 p.S1176L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 24 13 35.14 43 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83745823 83745823 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 83745823 83745823 A G SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.3335 p.V1112A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 46 10 17.86 48 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83774807 83774807 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 83774807 83774807 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known silent c.2070 p.L690 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 26 15 36.59 33 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83778199 83778199 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 83778199 83778199 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.1787 p.A596V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 34 8 19.05 36 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83787987 83787987 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 83787987 83787987 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known nonsense c.1171 p.R391* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 10 8 44.44 25 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83788337 83788337 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 83788337 83788337 C G SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.1015 p.D339H 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 16 6 26.09 20 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83793119 83793119 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 83793119 83793119 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.760 p.R254C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 17 18 51.43 69 0 0.00 SEC31A 22872 genome.wustl.edu 37 4 83802025 83802025 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 83802025 83802025 C T SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.130 p.E44K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 19 3 13.64 29 0 0.00 SEC31B 25956 genome.wustl.edu 37 10 102247514 102247514 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 102247514 102247514 G T SNP SEC31B ENST00000370345 human ensembl 70_37 -1 known silent c.3399 p.A1133 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 13 4 23.53 22 0 0.00 SEC31B 25956 genome.wustl.edu 37 10 102247537 102247537 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 102247537 102247537 C T SNP SEC31B ENST00000370345 human ensembl 70_37 -1 known missense c.3376 p.V1126M 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 18 7 28.00 45 0 0.00 SEC61A2 55176 genome.wustl.edu 37 10 12198972 12198972 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 12198972 12198972 G A SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.683 p.R228Q 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 18 29 61.70 27 0 0.00 SEC61A2 55176 genome.wustl.edu 37 10 12198972 12198972 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 12198972 12198972 G A SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.683 p.R228Q 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 37 64 63.37 137 0 0.00 SEC61A2 55176 genome.wustl.edu 37 10 12203080 12203080 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 12203080 12203080 C G SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.1127 p.S376C 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 77 46 37.40 198 0 0.00 SEC61B 10952 genome.wustl.edu 37 9 101984964 101984964 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 101984964 101984964 G C SNP SEC61B ENST00000481573 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC61B HGNC ENSG00000106803 44 25 35.21 54 0 0.00 SEC63 11231 genome.wustl.edu 37 6 108202401 108202401 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108202401 108202401 T G SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known missense c.1887 p.E629D 1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 36 16 30.77 81 0 0.00 SEC63 11231 genome.wustl.edu 37 6 108204293 108204293 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 108204293 108204293 C G SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known missense c.1732 p.E578Q 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 43 14 24.56 105 0 0.00 SEC63 11231 genome.wustl.edu 37 6 108243115 108243116 + Splice_Site INS - - GGG TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 108243115 108243116 - GGG INS SEC63 ENST00000369002 human ensembl 70_37 -1 known splice_site_ins c.340-3_340-2 e4-2 1.000:0.980 - - - no_errors SEC63 HGNC ENSG00000025796 41 8 16.33 36 0 0.00 SECISBP2 79048 genome.wustl.edu 37 9 91939384 91939384 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 91939384 91939384 C T SNP SECISBP2 ENST00000470305 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SECISBP2 HGNC ENSG00000187742 73 10 12.05 41 0 0.00 SECISBP2 79048 genome.wustl.edu 37 9 91964815 91964815 + Missense_Mutation SNP C C G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 91964815 91964815 C G SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.1863 p.F621L 0.429 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 53 17 24.29 38 0 0.00 SECISBP2 79048 genome.wustl.edu 37 9 91972358 91972358 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 91972358 91972358 G A SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.2146 p.D716N 0.341 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 8 9 52.94 18 0 0.00 SECISBP2 79048 genome.wustl.edu 37 9 91973638 91973638 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 91973638 91973638 G A SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.2464 p.E822K 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 18 16 47.06 29 0 0.00 SECTM1 6398 genome.wustl.edu 37 17 80280224 80280224 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 80280224 80280224 G T SNP SECTM1 ENST00000269389 human ensembl 70_37 -1 known missense c.560 p.P187H 0.000 NULL NULL - no_errors SECTM1 HGNC ENSG00000141574 34 4 10.53 36 0 0.00 SEL1L2 80343 genome.wustl.edu 37 20 13894427 13894427 + Splice_Site SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 13894427 13894427 C T SNP SEL1L2 ENST00000284951 human ensembl 70_37 -1 known splice_site c.549+1 e5+1 0.993 - - - no_errors SEL1L2 HGNC ENSG00000101251 88 30 25.42 44 0 0.00 SEL1L2 80343 genome.wustl.edu 37 20 13899729 13899729 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 13899729 13899729 G A SNP SEL1L2 ENST00000284951 human ensembl 70_37 -1 known silent c.324 p.D108 0.026 smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 182 25 12.02 154 0 0.00 SEL1L3 23231 genome.wustl.edu 37 4 25806242 25806242 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 25806242 25806242 C T SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known missense c.1697 p.C566Y 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 41 16 28.07 82 0 0.00 SEL1L3 23231 genome.wustl.edu 37 4 25806331 25806331 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 25806331 25806331 C G SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known missense c.1608 p.K536N 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 46 22 32.35 64 0 0.00 SEL1L3 23231 genome.wustl.edu 37 4 25848925 25848925 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 25848925 25848925 G A SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known silent c.724 p.L242 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 17 16 48.48 32 0 0.00 SELE 6401 genome.wustl.edu 37 1 169695912 169695912 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 169695912 169695912 G A SNP SELE ENST00000333360 human ensembl 70_37 -1 known missense c.1681 p.L561F 0.900 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 52 14 21.21 25 0 0.00 SELENBP1 8991 genome.wustl.edu 37 1 151337064 151337064 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 151337064 151337064 C A SNP SELENBP1 ENST00000368868 human ensembl 70_37 -1 known missense c.1374 p.E458D 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 25 4 13.79 27 0 0.00 SELK 58515 genome.wustl.edu 37 3 53920923 53920923 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 53920923 53920923 C T SNP SELK ENST00000541726 human ensembl 70_37 -1 known missense c.149 p.R50K 1.000 pfam_Se_SelK/SelG pfam_Se_SelK/SelG - no_errors SELK Uniprot_genename ENSG00000113811 17 7 29.17 42 0 0.00 SELK 58515 genome.wustl.edu 37 3 53925851 53925851 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 53925851 53925851 C A SNP SELK ENST00000485414 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SELK Uniprot_genename ENSG00000113811 73 23 23.96 46 0 0.00 SELL 6402 genome.wustl.edu 37 1 169670640 169670640 + RNA DEL T T - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 169670640 169670640 T - DEL SELL ENST00000463108 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors SELL HGNC ENSG00000188404 42 5 10.64 41 0 0.00 SELL 6402 genome.wustl.edu 37 1 169676572 169676572 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 169676572 169676572 G C SNP SELL ENST00000236147 human ensembl 70_37 -1 known nonsense c.530 p.S177* 0.861 pfam_EG-like_dom,smart_EG-like_dom,pirsf_L-selectin,pfscan_EG-like_dom pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 40 12 23.08 70 0 0.00 SELL 6402 genome.wustl.edu 37 1 169677748 169677748 + Silent SNP T T G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 169677748 169677748 T G SNP SELL ENST00000236147 human ensembl 70_37 -1 known silent c.321 p.I107 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 31 11 26.19 38 0 0.00 SELL 6402 genome.wustl.edu 37 1 169677817 169677817 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 169677817 169677817 C T SNP SELL ENST00000236147 human ensembl 70_37 -1 known silent c.252 p.A84 0.071 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 67 11 14.10 74 0 0.00 SELP 6403 genome.wustl.edu 37 1 169560702 169560702 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 169560702 169560702 C T SNP SELP ENST00000466167 human ensembl 70_37 -1 known rna NULL NULL 0.173 - - - no_errors SELP HGNC ENSG00000174175 87 14 13.86 66 0 0.00 SELP 6403 genome.wustl.edu 37 1 169560727 169560728 + RNA INS - - AAAA TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 169560727 169560728 - AAAA INS SELP ENST00000466167 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.079 - - - no_errors SELP HGNC ENSG00000174175 35 4 10.26 28 0 0.00 SELRC1 65260 genome.wustl.edu 37 1 53163902 53163902 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 53163902 53163902 C G SNP SELRC1 ENST00000371538 human ensembl 70_37 -1 known missense c.97 p.D33H 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 43 7 14.00 64 0 0.00 SELRC1 65260 genome.wustl.edu 37 1 53163968 53163968 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 53163968 53163968 C G SNP SELRC1 ENST00000371538 human ensembl 70_37 -1 known missense c.31 p.E11Q 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 20 8 28.57 52 0 0.00 SELV 348303 genome.wustl.edu 37 19 40006584 40006584 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40006584 40006584 G T SNP SELV ENST00000423711 human ensembl 70_37 +1 known missense c.732 p.Q244H 0.000 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_genename ENSG00000186838 28 17 37.78 71 0 0.00 SEMA3A 10371 genome.wustl.edu 37 7 83610701 83610701 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 83610701 83610701 C T SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.1588 p.A530T 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 26 5 16.13 37 0 0.00 SEMA3A 10371 genome.wustl.edu 37 7 83610767 83610767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 83610767 83610767 C T SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.1522 p.G508R 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 22 6 21.43 43 0 0.00 SEMA3A 10371 genome.wustl.edu 37 7 83640560 83640560 + Silent SNP T T C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 83640560 83640560 T C SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known silent c.864 p.K288 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 10 4 28.57 24 0 0.00 SEMA3A 10371 genome.wustl.edu 37 7 83640567 83640567 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 83640567 83640567 A G SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.857 p.F286S 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 39 24 38.10 85 0 0.00 SEMA3D 223117 genome.wustl.edu 37 7 84680064 84680064 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 84680064 84680064 C A SNP SEMA3D ENST00000444867 human ensembl 70_37 -1 putative missense c.864 p.E288D 0.001 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA3D HGNC ENSG00000153993 16 5 23.81 39 0 0.00 SEMA3D 223117 genome.wustl.edu 37 7 84751142 84751142 + Silent SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 7 84751142 84751142 C T SNP SEMA3D ENST00000284136 human ensembl 70_37 -1 known silent c.66 p.L22 0.021 NULL pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3D HGNC ENSG00000153993 50 23 31.51 38 0 0.00 SEMA3E 9723 genome.wustl.edu 37 7 83014705 83014705 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 83014705 83014705 C T SNP SEMA3E ENST00000307792 human ensembl 70_37 -1 known missense c.1780 p.E594K 1.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC ENSG00000170381 45 28 38.36 95 0 0.00 SEMA3E 9723 genome.wustl.edu 37 7 83021871 83021871 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 83021871 83021871 C A SNP SEMA3E ENST00000307792 human ensembl 70_37 -1 known missense c.1667 p.R556M 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC ENSG00000170381 23 4 14.81 36 0 0.00 SEMA3F 6405 genome.wustl.edu 37 3 50220166 50220166 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 50220166 50220166 G A SNP SEMA3F ENST00000002829 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3F HGNC ENSG00000001617 20 5 20.00 19 0 0.00 SEMA3G 56920 genome.wustl.edu 37 3 52475372 52475372 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52475372 52475372 C A SNP SEMA3G ENST00000231721 human ensembl 70_37 -1 known missense c.721 p.D241Y 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC ENSG00000010319 29 4 12.12 44 0 0.00 SEMA3G 56920 genome.wustl.edu 37 3 52476766 52476766 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 52476766 52476766 C T SNP SEMA3G ENST00000231721 human ensembl 70_37 -1 known silent c.273 p.R91 0.971 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC ENSG00000010319 23 6 20.69 22 0 0.00 SEMA4A 64218 genome.wustl.edu 37 1 156126185 156126185 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156126185 156126185 C G SNP SEMA4A ENST00000470306 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEMA4A HGNC ENSG00000196189 124 16 11.43 118 0 0.00 SEMA4A 64218 genome.wustl.edu 37 1 156126335 156126335 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 156126335 156126335 G T SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.270 p.Q90H 0.144 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC ENSG00000196189 33 4 10.26 48 0 0.00 SEMA4A 64218 genome.wustl.edu 37 1 156131245 156131245 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 156131245 156131245 G A SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.919 p.A307T 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC ENSG00000196189 63 8 11.27 70 0 0.00 SEMA4A 64218 genome.wustl.edu 37 1 156131286 156131286 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156131286 156131286 C G SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.960 p.I320M 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC ENSG00000196189 138 17 10.97 146 0 0.00 SEMA4A 64218 genome.wustl.edu 37 1 156132829 156132829 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 156132829 156132829 G A SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.1078 p.E360K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC ENSG00000196189 54 39 41.94 118 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90744874 90744874 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 90744874 90744874 C T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.64 p.R22W 0.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 10 4 28.57 11 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90766915 90766915 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 90766915 90766915 G T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.986 p.S329I 0.647 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 34 4 10.53 40 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90767093 90767093 + Missense_Mutation SNP C C G TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 15 90767093 90767093 C G SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.1067 p.S356C 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 38 15 28.30 46 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90768237 90768237 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 90768237 90768237 C T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.1232 p.S411L 0.997 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 61 12 16.22 70 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90768586 90768586 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 90768586 90768586 C G SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known nonsense c.1478 p.S493* 0.587 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 36 23 38.98 58 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90771663 90771663 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90771663 90771663 G C SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.2302 p.E768Q 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 13 15 53.57 44 0 0.00 SEMA4B 10509 genome.wustl.edu 37 15 90771715 90771715 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 90771715 90771715 G A SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.2354 p.R785Q 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC ENSG00000185033 19 23 54.76 37 0 0.00 SEMA4C 54910 genome.wustl.edu 37 2 97533520 97533520 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 97533520 97533520 G A SNP SEMA4C ENST00000305476 human ensembl 70_37 -1 known missense c.104 p.S35F 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4C HGNC ENSG00000168758 35 8 18.60 24 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74900842 74900842 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74900842 74900842 G A SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known missense c.709 p.E237K 0.304 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 46 19 29.23 50 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74902126 74902126 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 74902126 74902126 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1113 p.V371 0.981 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 49 28 36.36 23 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74902126 74902126 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 74902126 74902126 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1113 p.V371 0.981 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 69 18 20.69 56 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74902651 74902651 + Splice_Site SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74902651 74902651 G C SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known splice_site c.1373-1 e11-1 1.000 - - - no_errors SEMA4F HGNC ENSG00000135622 37 39 51.32 88 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74902683 74902683 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 74902683 74902683 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1404 p.I468 0.011 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 90 16 15.09 75 0 0.00 SEMA4F 10505 genome.wustl.edu 37 2 74902895 74902895 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74902895 74902895 C A SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known missense c.1502 p.S501Y 0.937 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 31 12 27.91 56 0 0.00 SEMA4G 57715 genome.wustl.edu 37 10 102738363 102738363 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 102738363 102738363 G A SNP SEMA4G ENST00000210633 human ensembl 70_37 +1 known silent c.609 p.L203 0.996 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 11 8 42.11 16 0 0.00 SEMA4G 57715 genome.wustl.edu 37 10 102740026 102740026 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 102740026 102740026 C A SNP SEMA4G ENST00000210633 human ensembl 70_37 +1 known missense c.1276 p.R426S 0.959 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 19 15 44.12 34 0 0.00 SEMA5A 9037 genome.wustl.edu 37 5 9119177 9119177 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 9119177 9119177 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known missense c.1858 p.R620C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 13 16 48.48 14 0 0.00 SEMA5A 9037 genome.wustl.edu 37 5 9122803 9122803 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 9122803 9122803 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known silent c.1746 p.C582 0.023 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 71 21 22.83 88 0 0.00 SEMA5A 9037 genome.wustl.edu 37 5 9197373 9197373 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 5 9197373 9197373 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known silent c.975 p.S325 0.763 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 117 18 13.24 56 0 0.00 SEMA5A 9037 genome.wustl.edu 37 5 9202081 9202081 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 9202081 9202081 G C SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known missense c.918 p.I306M 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 13 8 38.10 16 0 0.00 SEMA5B 54437 genome.wustl.edu 37 3 122634439 122634439 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 122634439 122634439 G A SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known silent c.1998 p.F666 0.966 superfamily_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 53 8 13.11 57 0 0.00 SEMA5B 54437 genome.wustl.edu 37 3 122641210 122641210 + Missense_Mutation SNP C C T TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 3 122641210 122641210 C T SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known missense c.1519 p.E507K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 37 18 32.73 30 0 0.00 SEMA5B 54437 genome.wustl.edu 37 3 122645303 122645303 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 122645303 122645303 C T SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known missense c.1234 p.E412K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 30 4 11.76 32 0 0.00 SEMA6A 57556 genome.wustl.edu 37 5 115783191 115783192 + Frame_Shift_Ins INS - - T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 115783191 115783192 - T INS SEMA6A ENST00000257414 human ensembl 70_37 -1 known frame_shift_ins c.2262_2261 p.N754fs 0.997:0.990 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 182 80 30.53 274 0 0.00 SEMA6A 57556 genome.wustl.edu 37 5 115808598 115808598 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 115808598 115808598 G T SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known missense c.1763 p.S588Y 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 35 19 34.55 33 0 0.00 SEMA6A 57556 genome.wustl.edu 37 5 115814368 115814368 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 115814368 115814368 G C SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known missense c.1297 p.Q433E 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 69 15 17.86 62 0 0.00 SEMA6A 57556 genome.wustl.edu 37 5 115822519 115822519 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 115822519 115822519 G T SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known silent c.888 p.L296 0.695 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 24 19 43.18 52 0 0.00 SEMA6B 10501 genome.wustl.edu 37 19 4548371 4548371 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 4548371 4548371 G A SNP SEMA6B ENST00000301293 human ensembl 70_37 -1 known missense c.1358 p.T453M 0.998 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6B HGNC ENSG00000167680 87 25 22.32 91 0 0.00 SEMA6B 10501 genome.wustl.edu 37 19 4550843 4550843 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 4550843 4550843 C T SNP SEMA6B ENST00000301293 human ensembl 70_37 -1 known silent c.1089 p.T363 0.161 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6B HGNC ENSG00000167680 40 12 23.08 54 0 0.00 SEMA6C 10500 genome.wustl.edu 37 1 151104757 151104757 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 151104757 151104757 C T SNP SEMA6C ENST00000479820 human ensembl 70_37 -1 known rna NULL NULL 0.854 - - - no_errors SEMA6C HGNC ENSG00000143434 11 4 26.67 12 0 0.00 SEMA6C 10500 genome.wustl.edu 37 1 151106454 151106454 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151106454 151106454 G C SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1837 p.L613V 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC ENSG00000143434 26 49 65.33 42 0 0.00 SEMA6C 10500 genome.wustl.edu 37 1 151107724 151107724 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 151107724 151107724 C T SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1495 p.E499K 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC ENSG00000143434 30 7 18.92 27 0 0.00 SEMA6C 10500 genome.wustl.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 151108092 151108092 C T SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1408 p.E470K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC ENSG00000143434 50 39 43.82 34 0 0.00 SEMA6D 80031 genome.wustl.edu 37 15 48052058 48052058 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 48052058 48052058 C T SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known silent c.63 p.V21 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC ENSG00000137872 35 19 35.19 138 1 0.72 SEMA6D 80031 genome.wustl.edu 37 15 48056112 48056112 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 48056112 48056112 G A SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known silent c.813 p.E271 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC ENSG00000137872 138 42 23.33 76 0 0.00 SEMA6D 80031 genome.wustl.edu 37 15 48056979 48056979 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 48056979 48056979 G C SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known missense c.1242 p.K414N 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC ENSG00000137872 78 23 22.77 75 0 0.00 SEMA6D 80031 genome.wustl.edu 37 15 48058792 48058792 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48058792 48058792 C A SNP SEMA6D ENST00000389432 human ensembl 70_37 +1 known missense c.1665 p.F555L 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC ENSG00000137872 25 16 39.02 60 0 0.00 SEMA6D 80031 genome.wustl.edu 37 15 48058809 48058809 + Missense_Mutation SNP A A C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 48058809 48058809 A C SNP SEMA6D ENST00000389432 human ensembl 70_37 +1 known missense c.1682 p.H561P 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC ENSG00000137872 46 21 31.34 51 0 0.00 SEMA7A 8482 genome.wustl.edu 37 15 74704301 74704301 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 74704301 74704301 G A SNP SEMA7A ENST00000261918 human ensembl 70_37 -1 known silent c.1347 p.F449 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA7A HGNC ENSG00000138623 27 17 38.64 35 0 0.00 SEMG1 6406 genome.wustl.edu 37 20 43836630 43836630 + Nonsense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 43836630 43836630 C G SNP SEMG1 ENST00000372781 human ensembl 70_37 +1 known nonsense c.692 p.S231* 0.002 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 80 46 36.51 125 1 0.79 SEMG2 6407 genome.wustl.edu 37 20 43850898 43850898 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 43850898 43850898 G A SNP SEMG2 ENST00000372769 human ensembl 70_37 +1 known missense c.625 p.E209K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 24 4 14.29 24 0 0.00 SENP1 29843 genome.wustl.edu 37 12 48457495 48457495 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 48457495 48457495 C T SNP SENP1 ENST00000004980 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 45 44 49.44 71 0 0.00 SENP1 29843 genome.wustl.edu 37 12 48477376 48477376 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 48477376 48477376 C T SNP SENP1 ENST00000004980 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 13 11 45.83 20 0 0.00 SENP1 29843 genome.wustl.edu 37 12 48482958 48482958 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 48482958 48482958 G A SNP SENP1 ENST00000339976 human ensembl 70_37 -1 known silent c.435 p.F145 1.000 NULL NULL - no_errors SENP1 HGNC ENSG00000079387 19 6 24.00 33 0 0.00 SENP2 59343 genome.wustl.edu 37 3 185329515 185329515 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 185329515 185329515 C G SNP SENP2 ENST00000296257 human ensembl 70_37 +1 known missense c.799 p.Q267E 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 21 4 15.38 41 0 0.00 SENP2 59343 genome.wustl.edu 37 3 185344103 185344103 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 185344103 185344103 G C SNP SENP2 ENST00000296257 human ensembl 70_37 +1 known silent c.1629 p.L543 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 50 12 19.35 36 0 0.00 SENP3 26168 genome.wustl.edu 37 17 7474944 7474945 + RNA INS - - T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 7474944 7474945 - T INS SENP3 ENST00000578868 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.999 - - - no_errors SENP3 HGNC ENSG00000161956 27 3 10.00 44 0 0.00 SENP5 205564 genome.wustl.edu 37 3 196612055 196612055 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196612055 196612055 G C SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 23 5 17.86 12 0 0.00 SENP5 205564 genome.wustl.edu 37 3 196612651 196612651 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 196612651 196612651 G A SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.599 p.C200Y 0.985 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 37 10 21.28 26 0 0.00 SENP5 205564 genome.wustl.edu 37 3 196613394 196613394 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 196613394 196613394 C T SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.1342 p.L448F 0.486 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 83 21 20.19 41 0 0.00 SENP6 26054 genome.wustl.edu 37 6 76380320 76380320 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 76380320 76380320 C G SNP SENP6 ENST00000370014 human ensembl 70_37 +1 known missense c.1276 p.Q426E 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 61 34 35.79 124 0 0.00 SENP6 26054 genome.wustl.edu 37 6 76425309 76425309 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 76425309 76425309 G A SNP SENP6 ENST00000370014 human ensembl 70_37 +1 known silent c.3338 p.*1113 0.817 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 9 6 40.00 19 0 0.00 SENP7 57337 genome.wustl.edu 37 3 101044797 101044797 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 101044797 101044797 C T SNP SENP7 ENST00000394095 human ensembl 70_37 -1 known missense c.3143 p.S1048N 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 25 8 24.24 31 0 0.00 SENP7 57337 genome.wustl.edu 37 3 101046647 101046647 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 101046647 101046647 C G SNP SENP7 ENST00000394095 human ensembl 70_37 -1 known missense c.2878 p.E960Q 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 96 38 28.36 64 0 0.00 SENP7 57337 genome.wustl.edu 37 3 101056409 101056409 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 101056409 101056409 G C SNP SENP7 ENST00000394095 human ensembl 70_37 -1 known missense c.2424 p.F808L 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 20 9 31.03 43 0 0.00 SENP8 123228 genome.wustl.edu 37 15 72432489 72432489 + Silent SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 72432489 72432489 T C SNP SENP8 ENST00000340912 human ensembl 70_37 +1 known silent c.525 p.C175 0.985 pfam_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC ENSG00000166192 20 4 16.67 17 0 0.00 SEPHS1 22929 genome.wustl.edu 37 10 13386938 13386938 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 13386938 13386938 C T SNP SEPHS1 ENST00000327347 human ensembl 70_37 -1 known missense c.13 p.E5K 1.000 NULL pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 159 136 46.10 194 0 0.00 SEPHS2 22928 genome.wustl.edu 37 16 30455997 30455997 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 30455997 30455997 G A SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.881 p.A294V 0.997 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 21 7 25.00 31 0 0.00 SEPHS2 22928 genome.wustl.edu 37 16 30456155 30456155 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30456155 30456155 G C SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known silent c.723 p.L241 0.010 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 38 11 22.45 33 0 0.00 SEPHS2 22928 genome.wustl.edu 37 16 30456484 30456484 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 30456484 30456484 C T SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.394 p.E132K 0.994 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 45 11 19.64 34 0 0.00 SEPHS2 22928 genome.wustl.edu 37 16 30456484 30456484 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 30456484 30456484 C T SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.394 p.E132K 0.994 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 92 27 22.69 158 0 0.00 SEPSECS 51091 genome.wustl.edu 37 4 25125674 25125674 + Missense_Mutation SNP C C G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 4 25125674 25125674 C G SNP SEPSECS ENST00000382103 human ensembl 70_37 -1 known missense c.1385 p.R462T 0.996 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase - no_errors SEPSECS HGNC ENSG00000109618 40 7 14.89 40 0 0.00 SEPT1 1731 genome.wustl.edu 37 16 30390802 30390802 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30390802 30390802 C T SNP SEPT1 ENST00000321367 human ensembl 70_37 -1 known silent c.729 p.G243 0.001 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 76 27 26.21 85 0 0.00 SEPT1 1731 genome.wustl.edu 37 16 30392728 30392728 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30392728 30392728 C G SNP SEPT1 ENST00000321367 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 107 25 18.94 122 0 0.00 SEPT1 1731 genome.wustl.edu 37 16 30394217 30394217 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30394217 30394217 G T SNP SEPT1 ENST00000567783 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SEPT1 HGNC ENSG00000180096 34 12 26.09 36 0 0.00 SEPT11 55752 genome.wustl.edu 37 4 77917577 77917577 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 77917577 77917577 G C SNP SEPT11 ENST00000541121 human ensembl 70_37 +1 known splice_site c.58-1 e2-1 1.000 - - - no_errors SEPT11 HGNC ENSG00000138758 61 34 35.79 128 0 0.00 SEPT12 124404 genome.wustl.edu 37 16 4827818 4827818 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4827818 4827818 C T SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known missense c.1057 p.D353N 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 37 24 39.34 28 0 0.00 SEPT12 124404 genome.wustl.edu 37 16 4833397 4833397 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4833397 4833397 C A SNP SEPT12 ENST00000587603 human ensembl 70_37 -1 known missense c.792 p.K264N 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pfam_Cell_div_FtsK/SpoIIIE,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 34 16 32.00 37 0 0.00 SEPT12 124404 genome.wustl.edu 37 16 4833501 4833501 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4833501 4833501 C A SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known nonsense c.688 p.E230* 0.998 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 46 17 26.98 55 0 0.00 SEPT12 124404 genome.wustl.edu 37 16 4835864 4835864 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4835864 4835864 C A SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known silent c.318 p.L106 1.000 pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 80 36 31.03 52 0 0.00 SEPT12 124404 genome.wustl.edu 37 16 4836063 4836063 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 4836063 4836063 G C SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known missense c.210 p.F70L 1.000 pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 37 14 27.45 39 0 0.00 SEPT14 346288 genome.wustl.edu 37 7 55863714 55863714 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 55863714 55863714 T G SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known missense c.1191 p.K397N 0.067 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 35 4 10.26 62 0 0.00 SEPT14 346288 genome.wustl.edu 37 7 55874943 55874943 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 55874943 55874943 C T SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known missense c.826 p.E276K 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 33 24 42.11 35 0 0.00 SEPT14 346288 genome.wustl.edu 37 7 55902133 55902133 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 55902133 55902133 C T SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known silent c.705 p.A235 0.312 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 23 6 20.69 32 0 0.00 SEPT14 346288 genome.wustl.edu 37 7 55929647 55929647 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 55929647 55929647 C T SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known missense c.43 p.D15N 0.001 NULL pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 26 9 25.71 52 0 0.00 SEPT2 4735 genome.wustl.edu 37 2 242265494 242265495 + Frame_Shift_Ins INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 242265494 242265495 - A INS SEPT2 ENST00000360051 human ensembl 70_37 +1 known frame_shift_ins c.96_97 p.G34fs 0.999:1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 39 21 35.00 34 0 0.00 SEPT2 4735 genome.wustl.edu 37 2 242265494 242265495 + Frame_Shift_Ins INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 242265494 242265495 - A INS SEPT2 ENST00000360051 human ensembl 70_37 +1 known frame_shift_ins c.96_97 p.G34fs 0.999:1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 44 24 35.29 45 0 0.00 SEPT3 55964 genome.wustl.edu 37 22 42383277 42383277 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 42383277 42383277 C G SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.399 p.I133M 1.000 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 14 17 54.84 18 0 0.00 SEPT3 55964 genome.wustl.edu 37 22 42385647 42385647 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42385647 42385647 G A SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.628 p.D210N 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 31 25 44.64 80 0 0.00 SEPT3 55964 genome.wustl.edu 37 22 42385672 42385672 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 42385672 42385672 C G SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.653 p.S218C 0.738 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 33 108 76.06 71 0 0.00 SEPT3 55964 genome.wustl.edu 37 22 42387592 42387592 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 42387592 42387592 G C SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.685 p.E229Q 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 60 36 37.50 88 0 0.00 SEPT5 5413 genome.wustl.edu 37 22 19709399 19709399 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 19709399 19709399 C T SNP SEPT5 ENST00000383045 human ensembl 70_37 +1 known missense c.896 p.T299M 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 27 7 20.59 39 0 0.00 SEPT5 5413 genome.wustl.edu 37 22 19709996 19709996 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 19709996 19709996 C G SNP SEPT5 ENST00000383045 human ensembl 70_37 +1 known missense c.1126 p.Q376E 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 2 4 66.67 8 0 0.00 SEPT6 23157 genome.wustl.edu 37 X 118763247 118763247 + RNA SNP A A T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 118763247 118763247 A T SNP SEPT6 ENST00000481072 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SEPT6 HGNC ENSG00000125354 33 16 32.65 55 0 0.00 SEPT6 23157 genome.wustl.edu 37 X 118763424 118763424 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 118763424 118763424 C T SNP SEPT6 ENST00000394617 human ensembl 70_37 -1 known silent c.1227 p.K409 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 66 20 23.26 91 0 0.00 SEPT7 989 genome.wustl.edu 37 7 35937985 35937985 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 35937985 35937985 G C SNP SEPT7 ENST00000399034 human ensembl 70_37 +1 known missense c.1129 p.E377Q 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 50 47 48.45 90 0 0.00 SEPT9 10801 genome.wustl.edu 37 17 75370193 75370193 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 75370193 75370193 C T SNP SEPT9 ENST00000587514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SEPT9 HGNC ENSG00000184640 28 21 42.86 22 0 0.00 SEPT9 10801 genome.wustl.edu 37 17 75398439 75398439 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 75398439 75398439 C T SNP SEPT9 ENST00000427177 human ensembl 70_37 +1 known silent c.375 p.I125 0.240 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC ENSG00000184640 9 13 59.09 37 0 0.00 SEPT9 10801 genome.wustl.edu 37 17 75398515 75398515 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 75398515 75398515 G A SNP SEPT9 ENST00000427177 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC ENSG00000184640 28 18 39.13 40 0 0.00 SEPT9 10801 genome.wustl.edu 37 17 75478551 75478551 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 75478551 75478551 G T SNP SEPT9 ENST00000592420 human ensembl 70_37 +1 putative missense c.474 p.L158F 0.000 NULL NULL - no_errors SEPT9 HGNC ENSG00000184640 20 20 50.00 63 0 0.00 SERAC1 84947 genome.wustl.edu 37 6 158538838 158538838 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 158538838 158538838 C G SNP SERAC1 ENST00000367104 human ensembl 70_37 -1 known missense c.1324 p.D442H 0.007 pfam_PGAP1-like pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 23 3 11.54 22 0 0.00 SERBP1 26135 genome.wustl.edu 37 1 67885742 67885742 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 67885742 67885742 C T SNP SERBP1 ENST00000370995 human ensembl 70_37 -1 known missense c.946 p.D316N 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 55 17 23.29 45 0 0.00 SERBP1 26135 genome.wustl.edu 37 1 67890585 67890585 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 67890585 67890585 G C SNP SERBP1 ENST00000370995 human ensembl 70_37 -1 known silent c.681 p.V227 1.000 pfam_HABP4_PAIRBP1-bd pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 31 8 20.00 46 0 0.00 SERF2 10169 genome.wustl.edu 37 15 44086132 44086132 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44086132 44086132 C G SNP SERF2 ENST00000409960 human ensembl 70_37 +1 putative missense c.475 p.Q159E 1.000 NULL pfam_Uncharacterised_SERF - no_errors SERF2 HGNC ENSG00000140264 20 33 62.26 51 0 0.00 SERF2 10169 genome.wustl.edu 37 15 44092743 44092743 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 44092743 44092743 C T SNP SERF2 ENST00000594896 human ensembl 70_37 +1 known missense c.85 p.P29S 0.057 NULL NULL - no_errors SERF2 HGNC ENSG00000140264 30 41 57.75 56 0 0.00 SERF2 10169 genome.wustl.edu 37 15 44092974 44092974 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 44092974 44092974 C T SNP SERF2 ENST00000594896 human ensembl 70_37 +1 known silent c.316 p.L106 0.532 NULL NULL - no_errors SERF2 HGNC ENSG00000140264 10 4 28.57 24 0 0.00 SERGEF 26297 genome.wustl.edu 37 11 17899778 17899778 + Nonsense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 17899778 17899778 G C SNP SERGEF ENST00000265965 human ensembl 70_37 -1 known nonsense c.1025 p.S342* 0.997 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors SERGEF HGNC ENSG00000129158 9 9 50.00 24 0 0.00 SERHL 94009 genome.wustl.edu 37 22 42896607 42896607 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 42896607 42896607 G C SNP SERHL ENST00000359906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERHL HGNC ENSG00000172250 82 18 18.00 43 0 0.00 SERINC2 347735 genome.wustl.edu 37 1 31896551 31896551 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 31896551 31896551 C T SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known silent c.78 p.L26 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 104 13 11.11 79 0 0.00 SERINC2 347735 genome.wustl.edu 37 1 31897655 31897655 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 31897655 31897655 C G SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known missense c.354 p.F118L 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 13 12 48.00 17 0 0.00 SERINC2 347735 genome.wustl.edu 37 1 31898746 31898746 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 31898746 31898746 G A SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known missense c.623 p.R208H 0.006 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 31 11 26.19 62 0 0.00 SERINC2 347735 genome.wustl.edu 37 1 31907413 31907413 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 31907413 31907413 G A SNP SERINC2 ENST00000491976 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SERINC2 HGNC ENSG00000168528 50 15 23.08 48 0 0.00 SERINC3 10955 genome.wustl.edu 37 20 43132618 43132618 + Missense_Mutation SNP T T C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 43132618 43132618 T C SNP SERINC3 ENST00000255175 human ensembl 70_37 -1 known missense c.893 p.N298S 0.892 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 40 8 16.67 53 0 0.00 SERINC5 256987 genome.wustl.edu 37 5 79465309 79465309 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 79465309 79465309 G A SNP SERINC5 ENST00000509193 human ensembl 70_37 -1 known silent c.612 p.I204 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 28 18 39.13 57 0 0.00 SERINC5 256987 genome.wustl.edu 37 5 79465312 79465312 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 79465312 79465312 G A SNP SERINC5 ENST00000509193 human ensembl 70_37 -1 known silent c.609 p.L203 0.405 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 31 19 38.00 57 0 0.00 SERP1 27230 genome.wustl.edu 37 3 150263566 150263566 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 150263566 150263566 C T SNP SERP1 ENST00000239944 human ensembl 70_37 -1 known splice_site c.85-1 e2-1 1.000 - - - no_errors SERP1 HGNC ENSG00000120742 62 18 22.50 34 0 0.00 SERP1 27230 genome.wustl.edu 37 3 150264652 150264652 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 150264652 150264652 C T SNP SERP1 ENST00000491195 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SERP1 HGNC ENSG00000120742 100 30 23.08 52 0 0.00 SERP2 387923 genome.wustl.edu 37 13 44948221 44948221 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 44948221 44948221 G A SNP SERP2 ENST00000493476 human ensembl 70_37 +1 known silent c.60 p.Q20 1.000 pfam_ER_stress-assoc_Ramp4 pfam_ER_stress-assoc_Ramp4 - no_errors SERP2 HGNC ENSG00000151778 22 17 43.59 30 0 0.00 SERPINA1 5265 genome.wustl.edu 37 14 94849131 94849131 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 94849131 94849131 C T SNP SERPINA1 ENST00000355814 human ensembl 70_37 -1 known silent c.444 p.L148 0.019 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 30 14 31.82 47 0 0.00 SERPINA10 51156 genome.wustl.edu 37 14 94754777 94754777 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 94754777 94754777 C G SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.838 p.D280H 0.983 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 49 9 15.52 42 0 0.00 SERPINA10 51156 genome.wustl.edu 37 14 94756352 94756352 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 14 94756352 94756352 C T SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.579 p.M193I 0.174 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 40 22 35.48 46 0 0.00 SERPINA10 51156 genome.wustl.edu 37 14 94756366 94756366 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94756366 94756366 C G SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.565 p.E189Q 0.071 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 18 13 41.94 42 0 0.00 SERPINA11 256394 genome.wustl.edu 37 14 94914645 94914645 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 94914645 94914645 C T SNP SERPINA11 ENST00000334708 human ensembl 70_37 -1 known missense c.467 p.S156N 0.028 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 24 4 14.29 59 0 0.00 SERPINA13P 388007 genome.wustl.edu 37 14 95107197 95107197 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 95107197 95107197 G A SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINA13P HGNC ENSG00000187483 15 9 37.50 19 0 0.00 SERPINA13P 388007 genome.wustl.edu 37 14 95107717 95107717 + RNA SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 95107717 95107717 C A SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINA13P HGNC ENSG00000187483 62 26 29.55 77 0 0.00 SERPINA13P 388007 genome.wustl.edu 37 14 95109805 95109805 + Splice_Site SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 95109805 95109805 G T SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.430 - - - no_errors SERPINA13P HGNC ENSG00000187483 32 4 11.11 37 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95081043 95081043 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 95081043 95081043 C T SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known silent c.340 p.L114 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 26 8 23.53 20 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95081110 95081110 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 95081110 95081110 C T SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.407 p.S136F 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 30 13 29.55 23 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95081252 95081252 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 95081252 95081252 G C SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.549 p.K183N 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 24 12 33.33 43 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95081252 95081252 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 95081252 95081252 G C SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.549 p.K183N 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 45 7 13.46 60 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95085756 95085756 + Missense_Mutation SNP A A C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 14 95085756 95085756 A C SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.943 p.M315L 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 126 26 17.11 33 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95085757 95085757 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 14 95085757 95085757 T A SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.944 p.M315K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 125 25 16.67 33 0 0.00 SERPINA3 12 genome.wustl.edu 37 14 95085798 95085798 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 14 95085798 95085798 G A SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.985 p.E329K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 20 10 33.33 30 0 0.00 SERPINA4 5267 genome.wustl.edu 37 14 95030000 95030000 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 14 95030000 95030000 C T SNP SERPINA4 ENST00000298841 human ensembl 70_37 +1 known missense c.181 p.R61C 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 9 5 35.71 31 0 0.00 SERPINA4 5267 genome.wustl.edu 37 14 95030000 95030000 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 95030000 95030000 C T SNP SERPINA4 ENST00000298841 human ensembl 70_37 +1 known missense c.181 p.R61C 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 12 10 45.45 24 0 0.00 SERPINA5 5104 genome.wustl.edu 37 14 95053975 95053975 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 95053975 95053975 G A SNP SERPINA5 ENST00000329597 human ensembl 70_37 +1 known silent c.276 p.L92 0.031 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 14 7 33.33 18 0 0.00 SERPINA6 866 genome.wustl.edu 37 14 94780392 94780392 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 94780392 94780392 G C SNP SERPINA6 ENST00000341584 human ensembl 70_37 -1 known silent c.594 p.V198 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA6 HGNC ENSG00000170099 81 24 22.86 93 0 0.00 SERPINA6 866 genome.wustl.edu 37 14 94780691 94780691 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 14 94780691 94780691 C T SNP SERPINA6 ENST00000341584 human ensembl 70_37 -1 known missense c.295 p.E99K 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA6 HGNC ENSG00000170099 38 23 37.70 67 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105277520 105277520 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 105277520 105277520 C A SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known missense c.1219 p.G407W 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 3 10 76.92 23 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105279118 105279118 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 105279118 105279118 C T SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known missense c.881 p.R294H 0.231 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 22 9 29.03 33 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105279279 105279279 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 105279279 105279279 C T SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.720 p.Q240 0.470 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 29 14 32.56 72 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105280684 105280684 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105280684 105280684 T C SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.366 p.P122 0.066 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 17 14 45.16 29 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105280795 105280795 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105280795 105280795 G A SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.255 p.C85 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 8 4 33.33 36 0 0.00 SERPINA7 6906 genome.wustl.edu 37 X 105281067 105281067 + Splice_Site SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 105281067 105281067 C G SNP SERPINA7 ENST00000372563 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.521 - - - no_errors SERPINA7 HGNC ENSG00000123561 6 6 50.00 47 0 0.00 SERPINA9 327657 genome.wustl.edu 37 14 94935613 94935613 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 94935613 94935613 C T SNP SERPINA9 ENST00000337425 human ensembl 70_37 -1 known missense c.619 p.D207N 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA9 HGNC ENSG00000170054 45 10 18.18 75 0 0.00 SERPINA9 327657 genome.wustl.edu 37 14 94936056 94936056 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 94936056 94936056 G T SNP SERPINA9 ENST00000538527 human ensembl 70_37 -1 known nonsense c.258 p.C86* 0.001 NULL NULL - no_errors SERPINA9 HGNC ENSG00000170054 36 4 10.00 49 0 0.00 SERPINA9 327657 genome.wustl.edu 37 14 94945595 94945595 + RNA SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 14 94945595 94945595 C T SNP SERPINA9 ENST00000539349 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SERPINA9 HGNC ENSG00000170054 36 7 16.28 59 0 0.00 SERPINB1 1992 genome.wustl.edu 37 6 2836096 2836096 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 2836096 2836096 C T SNP SERPINB1 ENST00000380739 human ensembl 70_37 -1 known silent c.729 p.L243 0.368 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC ENSG00000021355 60 12 16.67 83 0 0.00 SERPINB1 1992 genome.wustl.edu 37 6 2836122 2836122 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 6 2836122 2836122 C T SNP SERPINB1 ENST00000380739 human ensembl 70_37 -1 known missense c.703 p.D235N 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC ENSG00000021355 32 11 25.58 54 0 0.00 SERPINB10 5273 genome.wustl.edu 37 18 61597293 61597293 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 61597293 61597293 C T SNP SERPINB10 ENST00000238508 human ensembl 70_37 +1 known missense c.505 p.L169F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 21 17 44.74 45 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61322841 61322841 + RNA SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 61322841 61322841 G T SNP SERPINB11 ENST00000489748 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINB11 HGNC ENSG00000206072 15 4 21.05 50 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61377475 61377475 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61377475 61377475 C G SNP SERPINB11 ENST00000538847 human ensembl 70_37 +1 known missense c.48 p.F16L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 23 9 28.12 32 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61377519 61377519 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61377519 61377519 C G SNP SERPINB11 ENST00000538847 human ensembl 70_37 +1 known missense c.92 p.S31C 0.993 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 16 8 33.33 33 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61387323 61387323 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 61387323 61387323 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.27 p.F9L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 15 8 34.78 22 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61388146 61388146 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 61388146 61388146 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.175 p.L59V 0.989 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 99 28 22.05 77 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61390278 61390278 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 18 61390278 61390278 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.299 p.S100C 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 17 14 45.16 21 0 0.00 SERPINB11 89778 genome.wustl.edu 37 18 61390407 61390407 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 18 61390407 61390407 C T SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.428 p.S143F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 31 11 26.19 36 0 0.00 SERPINB12 89777 genome.wustl.edu 37 18 61228375 61228376 + Frame_Shift_Ins INS - - A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 61228375 61228376 - A INS SERPINB12 ENST00000269491 human ensembl 70_37 +1 known frame_shift_ins c.442_443 p.N150fs 0.524:0.009 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 98 14 12.50 91 0 0.00 SERPINB13 5275 genome.wustl.edu 37 18 61261713 61261713 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 61261713 61261713 G T SNP SERPINB13 ENST00000344731 human ensembl 70_37 +1 known missense c.597 p.E199D 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 30 5 14.29 39 0 0.00 SERPINB3 6317 genome.wustl.edu 37 18 61324221 61324221 + Splice_Site SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61324221 61324221 C G SNP SERPINB3 ENST00000283752 human ensembl 70_37 -1 known splice_site c.613-1 e6-1 0.035 - - - no_errors SERPINB3 HGNC ENSG00000057149 23 13 36.11 40 0 0.00 SERPINB5 5268 genome.wustl.edu 37 18 61156662 61156662 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 61156662 61156662 G T SNP SERPINB5 ENST00000382771 human ensembl 70_37 +1 known missense c.389 p.G130V 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 23 4 14.81 24 0 0.00 SERPINB6 5269 genome.wustl.edu 37 6 2955781 2955781 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 2955781 2955781 C T SNP SERPINB6 ENST00000335686 human ensembl 70_37 -1 known missense c.289 p.E97K 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 144 34 18.99 158 0 0.00 SERPINB7 8710 genome.wustl.edu 37 18 61449742 61449742 + Missense_Mutation SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 61449742 61449742 G C SNP SERPINB7 ENST00000336429 human ensembl 70_37 +1 known missense c.136 p.A46P 0.436 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 40 10 20.00 59 0 0.00 SERPINB7 8710 genome.wustl.edu 37 18 61468247 61468247 + Splice_Site SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 61468247 61468247 G T SNP SERPINB7 ENST00000336429 human ensembl 70_37 +1 known splice_site c.744+1 e6+1 0.994 - - - no_errors SERPINB7 HGNC ENSG00000166396 19 3 13.64 40 0 0.00 SERPINB8 5271 genome.wustl.edu 37 18 61649015 61649015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 61649015 61649015 G A SNP SERPINB8 ENST00000353706 human ensembl 70_37 +1 known missense c.367 p.E123K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 42 28 40.00 57 0 0.00 SERPINB9 5272 genome.wustl.edu 37 6 2890801 2890801 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 2890801 2890801 C A SNP SERPINB9 ENST00000380698 human ensembl 70_37 -1 known nonsense c.727 p.E243* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 29 4 12.12 37 0 0.00 SERPINB9 5272 genome.wustl.edu 37 6 2900832 2900832 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 2900832 2900832 G C SNP SERPINB9 ENST00000380698 human ensembl 70_37 -1 known missense c.14 p.S5C 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 26 25 49.02 38 0 0.00 SERPINC1 462 genome.wustl.edu 37 1 173876634 173876634 + Missense_Mutation SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 173876634 173876634 C T SNP SERPINC1 ENST00000367698 human ensembl 70_37 -1 known missense c.1172 p.R391Q 0.769 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 67 10 12.99 64 0 0.00 SERPINC1 462 genome.wustl.edu 37 1 173878880 173878880 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 173878880 173878880 C T SNP SERPINC1 ENST00000367698 human ensembl 70_37 -1 known silent c.963 p.E321 0.018 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 59 12 16.90 62 0 0.00 SERPIND1 3053 genome.wustl.edu 37 22 21134114 21134114 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 21134114 21134114 G C SNP SERPIND1 ENST00000215727 human ensembl 70_37 +1 known missense c.514 p.E172Q 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPIND1 HGNC ENSG00000099937 24 12 33.33 38 0 0.00 SERPIND1 3053 genome.wustl.edu 37 22 21141329 21141329 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 21141329 21141329 G A SNP SERPIND1 ENST00000215727 human ensembl 70_37 +1 known missense c.1475 p.R492K 0.951 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPIND1 HGNC ENSG00000099937 22 38 63.33 42 0 0.00 SERPINE2 5270 genome.wustl.edu 37 2 224866375 224866375 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 224866375 224866375 C T SNP SERPINE2 ENST00000258405 human ensembl 70_37 -1 known missense c.243 p.M81I 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 48 17 26.15 70 0 0.00 SERPINE3 647174 genome.wustl.edu 37 13 51936064 51936064 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51936064 51936064 T G SNP SERPINE3 ENST00000521255 human ensembl 70_37 +1 known missense c.1206 p.I402M 0.000 smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 8 5 38.46 39 0 0.00 SERPINF2 5345 genome.wustl.edu 37 17 1657566 1657566 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 1657566 1657566 C T SNP SERPINF2 ENST00000324015 human ensembl 70_37 +1 known missense c.1214 p.S405F 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 65 14 17.72 70 0 0.00 SERPING1 710 genome.wustl.edu 37 11 57369616 57369616 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 57369616 57369616 C T SNP SERPING1 ENST00000278407 human ensembl 70_37 +1 known missense c.659 p.S220L 0.041 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 83 18 17.65 120 0 0.00 SERPING1 710 genome.wustl.edu 37 11 57379217 57379217 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 57379217 57379217 C G SNP SERPING1 ENST00000278407 human ensembl 70_37 +1 known missense c.1057 p.L353V 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 40 9 18.37 52 0 0.00 SERPINH1 871 genome.wustl.edu 37 11 75277832 75277832 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 75277832 75277832 C T SNP SERPINH1 ENST00000358171 human ensembl 70_37 +1 known silent c.438 p.F146 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 58 17 22.67 72 0 0.00 SERPINH1 871 genome.wustl.edu 37 11 75278009 75278009 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 75278009 75278009 C T SNP SERPINH1 ENST00000358171 human ensembl 70_37 +1 known silent c.615 p.F205 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 5 9 64.29 20 0 0.00 SERPINI1 5274 genome.wustl.edu 37 3 167508190 167508190 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 167508190 167508190 C G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known nonsense c.281 p.S94* 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 109 19 14.73 115 0 0.00 SERPINI1 5274 genome.wustl.edu 37 3 167508283 167508283 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 3 167508283 167508283 T G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known missense c.374 p.L125W 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 99 12 10.81 43 0 0.00 SERPINI1 5274 genome.wustl.edu 37 3 167512530 167512530 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 167512530 167512530 C G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known missense c.799 p.L267V 0.982 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 54 20 27.03 22 0 0.00 SERPINI2 5276 genome.wustl.edu 37 3 167183309 167183309 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 3 167183309 167183309 C T SNP SERPINI2 ENST00000264677 human ensembl 70_37 -1 known missense c.631 p.V211I 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 30 48 61.54 26 0 0.00 SERPINI2 5276 genome.wustl.edu 37 3 167185055 167185055 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 167185055 167185055 A G SNP SERPINI2 ENST00000264677 human ensembl 70_37 -1 known missense c.266 p.L89P 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 17 8 32.00 30 0 0.00 SERTAD3 29946 genome.wustl.edu 37 19 40946982 40946982 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40946982 40946982 C G SNP SERTAD3 ENST00000601217 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SERTAD3 HGNC ENSG00000167565 57 38 39.18 100 0 0.00 SERTAD3 29946 genome.wustl.edu 37 19 40947907 40947907 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 40947907 40947907 C G SNP SERTAD3 ENST00000322354 human ensembl 70_37 -1 known missense c.81 p.Q27H 0.447 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 64 15 18.99 68 0 0.00 SERTAD4 56256 genome.wustl.edu 37 1 210415303 210415303 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 210415303 210415303 C T SNP SERTAD4 ENST00000367012 human ensembl 70_37 +1 known missense c.692 p.S231F 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 59 13 18.06 68 0 0.00 SESN2 83667 genome.wustl.edu 37 1 28595719 28595719 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 28595719 28595719 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known missense c.116 p.R39Q 0.893 NULL pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 17 10 37.04 31 0 0.00 SESN2 83667 genome.wustl.edu 37 1 28598238 28598238 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28598238 28598238 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known silent c.210 p.L70 0.781 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 27 12 30.77 57 0 0.00 SESN2 83667 genome.wustl.edu 37 1 28599131 28599131 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 28599131 28599131 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 70 69 49.64 246 0 0.00 SESN2 83667 genome.wustl.edu 37 1 28600017 28600017 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 28600017 28600017 C G SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known nonsense c.899 p.S300* 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 30 4 11.76 37 0 0.00 SESN2 83667 genome.wustl.edu 37 1 28601431 28601431 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 28601431 28601431 C T SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known silent c.1116 p.S372 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 34 4 10.53 59 0 0.00 SESN3 143686 genome.wustl.edu 37 11 94908718 94908718 + Nonsense_Mutation SNP T T A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 94908718 94908718 T A SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known nonsense c.1336 p.R446* 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 44 38 46.34 54 0 0.00 SESN3 143686 genome.wustl.edu 37 11 94924717 94924717 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 94924717 94924717 C G SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known missense c.193 p.E65Q 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 5 26 83.87 37 0 0.00 SESN3 143686 genome.wustl.edu 37 11 94926637 94926637 + Missense_Mutation SNP A A C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 94926637 94926637 A C SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known missense c.128 p.F43C 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 41 9 18.00 53 0 0.00 SET 6418 genome.wustl.edu 37 9 131454136 131454136 + Splice_Site SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 131454136 131454136 G C SNP SET ENST00000372692 human ensembl 70_37 +1 known splice_site c.171-1 e3-1 1.000 - - - no_errors SET HGNC ENSG00000119335 33 12 26.67 26 0 0.00 SET 6418 genome.wustl.edu 37 9 131456028 131456028 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131456028 131456028 G T SNP SET ENST00000372692 human ensembl 70_37 +1 known missense c.643 p.D215Y 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 14 3 17.65 31 0 0.00 SET 6418 genome.wustl.edu 37 9 131457120 131457120 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 131457120 131457120 G C SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC ENSG00000119335 59 21 26.25 56 0 0.00 SET 6418 genome.wustl.edu 37 9 131457173 131457173 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 131457173 131457173 T G SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC ENSG00000119335 26 6 18.75 38 0 0.00 SET 6418 genome.wustl.edu 37 9 131457727 131457727 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131457727 131457727 C T SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC ENSG00000119335 48 13 21.31 72 0 0.00 SETBP1 26040 genome.wustl.edu 37 18 42456540 42456540 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 42456540 42456540 C G SNP SETBP1 ENST00000426838 human ensembl 70_37 +1 known missense c.551 p.S184C 0.001 NULL NULL - no_errors SETBP1 HGNC ENSG00000152217 65 55 45.45 97 0 0.00 SETBP1 26040 genome.wustl.edu 37 18 42532104 42532104 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 42532104 42532104 C G SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known silent c.2799 p.L933 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 16 13 43.33 38 0 0.00 SETBP1 26040 genome.wustl.edu 37 18 42532180 42532180 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 42532180 42532180 G A SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known missense c.2875 p.E959K 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 39 12 23.53 54 0 0.00 SETBP1 26040 genome.wustl.edu 37 18 42533025 42533025 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 42533025 42533025 G C SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known missense c.3720 p.Q1240H 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 30 9 23.08 24 0 0.00 SETD1A 9739 genome.wustl.edu 37 16 30982737 30982737 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 30982737 30982737 C T SNP SETD1A ENST00000262519 human ensembl 70_37 +1 known silent c.3055 p.L1019 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 24 13 35.14 20 0 0.00 SETD1A 9739 genome.wustl.edu 37 16 30991903 30991903 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30991903 30991903 C T SNP SETD1A ENST00000262519 human ensembl 70_37 +1 known silent c.4506 p.I1502 1.000 pfam_COMPASS_Set1_N-SET pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 29 9 23.68 31 0 0.00 SETD1B 23067 genome.wustl.edu 37 12 122265698 122265698 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 122265698 122265698 G A SNP SETD1B ENST00000267197 human ensembl 70_37 +1 known missense c.5398 p.A1800T 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 25 25 50.00 23 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47098367 47098367 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 47098367 47098367 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.6907 p.P2303S 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 113 41 26.45 110 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47125724 47125724 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 47125724 47125724 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.5546 p.S1849L 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 34 24 40.68 60 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47162374 47162374 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47162374 47162374 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3752 p.S1251L 0.995 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 36 21 36.84 54 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47162506 47162506 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 47162506 47162506 G C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3620 p.S1207C 0.850 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 11 21 65.62 28 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47162506 47162506 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 47162506 47162506 G C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3620 p.S1207C 0.850 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 40 58 59.18 173 0 0.00 SETD2 29072 genome.wustl.edu 37 3 47163506 47163506 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 47163506 47163506 T C SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.2620 p.I874V 0.001 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 15 8 34.78 24 0 0.00 SETD3 84193 genome.wustl.edu 37 14 99865319 99865319 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 99865319 99865319 C T SNP SETD3 ENST00000331768 human ensembl 70_37 -1 known silent c.1482 p.E494 0.996 superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 238 46 16.20 294 0 0.00 SETD5 55209 genome.wustl.edu 37 3 9476152 9476152 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 9476152 9476152 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known silent c.312 p.L104 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 51 27 34.62 73 0 0.00 SETD5 55209 genome.wustl.edu 37 3 9477417 9477417 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 9477417 9477417 G C SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.394 p.D132H 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 8 8 50.00 13 0 0.00 SETD5 55209 genome.wustl.edu 37 3 9512245 9512245 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 9512245 9512245 G C SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.2827 p.D943H 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 36 31 46.27 61 0 0.00 SETD5 55209 genome.wustl.edu 37 3 9515122 9515122 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 9515122 9515122 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.3398 p.S1133F 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 18 27 60.00 81 0 0.00 SETD5 55209 genome.wustl.edu 37 3 9515167 9515167 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 9515167 9515167 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.3443 p.S1148F 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 48 14 22.22 41 0 0.00 SETD5-AS1 440944 genome.wustl.edu 37 3 9438177 9438177 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9438177 9438177 G C SNP SETD5-AS1 ENST00000383834 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SETD5-AS1 HGNC ENSG00000206573 18 19 51.35 37 0 0.00 SETD6 79918 genome.wustl.edu 37 16 58550511 58550511 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 58550511 58550511 C G SNP SETD6 ENST00000219315 human ensembl 70_37 +1 known silent c.606 p.L202 0.994 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 50 43 46.24 63 0 0.00 SETD8 387893 genome.wustl.edu 37 12 123875255 123875255 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 123875255 123875255 C T SNP SETD8 ENST00000330479 human ensembl 70_37 +1 known nonsense c.211 p.Q71* 1.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 56 26 31.71 95 0 0.00 SETD8 387893 genome.wustl.edu 37 12 123879787 123879787 + Silent SNP C C A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 12 123879787 123879787 C A SNP SETD8 ENST00000330479 human ensembl 70_37 +1 known silent c.483 p.I161 0.425 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 42 7 14.29 43 0 0.00 SETD8 387893 genome.wustl.edu 37 12 123888168 123888168 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 123888168 123888168 G A SNP SETD8 ENST00000330479 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 12 6 33.33 34 0 0.00 SETD9 133383 genome.wustl.edu 37 5 56205485 56205485 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 56205485 56205485 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known silent c.13 p.L5 0.924 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 16 8 33.33 26 0 0.00 SETD9 133383 genome.wustl.edu 37 5 56207082 56207082 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 56207082 56207082 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known missense c.185 p.A62V 1.000 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 60 30 33.33 44 0 0.00 SETD9 133383 genome.wustl.edu 37 5 56209780 56209780 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 56209780 56209780 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known silent c.670 p.L224 1.000 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 59 7 10.29 73 0 0.00 SETD9 133383 genome.wustl.edu 37 5 56212732 56212732 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56212732 56212732 C T SNP SETD9 ENST00000463805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SETD9 HGNC ENSG00000155542 34 28 45.16 46 0 0.00 SETD9 133383 genome.wustl.edu 37 5 56212740 56212740 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 56212740 56212740 C T SNP SETD9 ENST00000463805 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors SETD9 HGNC ENSG00000155542 35 28 44.44 41 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150902570 150902570 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 150902570 150902570 G A SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.388 p.D130N 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 65 12 15.58 40 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150913850 150913850 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 150913850 150913850 C G SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.493 p.Q165E 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 44 16 26.67 45 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150917569 150917569 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 150917569 150917569 C T SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known silent c.1125 p.V375 1.000 smart_Tudor pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 79 48 37.80 80 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150917615 150917615 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 150917615 150917615 G C SNP SETDB1 ENST00000368962 human ensembl 70_37 +1 known missense c.1171 p.E391Q 0.015 smart_Tudor smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 110 14 11.29 80 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150922972 150922972 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 150922972 150922972 C T SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.1619 p.S540L 0.358 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 74 31 29.52 35 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150923106 150923106 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150923106 150923106 C A SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known silent c.1753 p.R585 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 35 5 12.50 38 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150935585 150935585 + Missense_Mutation SNP G G T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 150935585 150935585 G T SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.3427 p.D1143Y 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 60 27 31.03 101 0 0.00 SETDB1 9869 genome.wustl.edu 37 1 150936781 150936781 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 150936781 150936781 G C SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.3817 p.E1273Q 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 81 39 32.50 141 0 0.00 SETDB2 83852 genome.wustl.edu 37 13 50034278 50034278 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 50034278 50034278 G A SNP SETDB2 ENST00000317257 human ensembl 70_37 +1 known missense c.52 p.D18N 0.999 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 107 21 16.41 193 0 0.00 SETMAR 6419 genome.wustl.edu 37 3 4345118 4345118 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 4345118 4345118 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.64 p.E22K 0.006 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 54 34 38.64 83 0 0.00 SETMAR 6419 genome.wustl.edu 37 3 4354762 4354762 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 4354762 4354762 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.337 p.E113K 0.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 21 21 50.00 47 0 0.00 SETMAR 6419 genome.wustl.edu 37 3 4358097 4358097 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 4358097 4358097 C T SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.1222 p.R408W 0.867 pfam_Transposase_14,superfamily_Homeodomain-like pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 1 12 92.31 23 0 0.00 SETMAR 6419 genome.wustl.edu 37 3 4358139 4358139 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 4358139 4358139 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.1264 p.E422K 0.525 pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 8 2 20.00 15 0 0.00 SETMAR 6419 genome.wustl.edu 37 3 4358681 4358681 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 4358681 4358681 G C SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.1806 p.L602F 0.954 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 19 8 29.63 32 0 0.00 SETX 23064 genome.wustl.edu 37 9 135150445 135150445 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 135150445 135150445 C A SNP SETX ENST00000464133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SETX HGNC ENSG00000107290 7 9 56.25 9 0 0.00 SETX 23064 genome.wustl.edu 37 9 135202135 135202135 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 135202135 135202135 G A SNP SETX ENST00000372169 human ensembl 70_37 -1 known missense c.4850 p.S1617F 0.000 NULL NULL - no_errors SETX HGNC ENSG00000107290 158 30 15.96 218 0 0.00 SETX 23064 genome.wustl.edu 37 9 135204702 135204702 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 135204702 135204702 C T SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.2283 p.S761 0.031 NULL NULL - no_errors SETX HGNC ENSG00000107290 11 6 35.29 20 0 0.00 SETX 23064 genome.wustl.edu 37 9 135205161 135205161 + Silent SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 135205161 135205161 C G SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.1824 p.L608 0.007 NULL NULL - no_errors SETX HGNC ENSG00000107290 23 10 30.30 37 0 0.00 SETX 23064 genome.wustl.edu 37 9 135205299 135205299 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135205299 135205299 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.1686 p.L562 1.000 NULL NULL - no_errors SETX HGNC ENSG00000107290 16 15 48.39 53 0 0.00 SETX 23064 genome.wustl.edu 37 9 135205465 135205465 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 135205465 135205465 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known nonsense c.1520 p.S507* 0.372 NULL NULL - no_errors SETX HGNC ENSG00000107290 19 9 32.14 46 0 0.00 SETX 23064 genome.wustl.edu 37 9 135211731 135211731 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135211731 135211731 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known missense c.670 p.L224V 1.000 NULL NULL - no_errors SETX HGNC ENSG00000107290 54 13 19.40 49 0 0.00 SEZ6 124925 genome.wustl.edu 37 17 27283392 27283392 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27283392 27283392 C G SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.2825 p.G942A 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 6 7 53.85 18 0 0.00 SEZ6 124925 genome.wustl.edu 37 17 27291100 27291100 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 27291100 27291100 G A SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.1120 p.H374Y 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 62 31 33.33 125 0 0.00 SEZ6 124925 genome.wustl.edu 37 17 27308731 27308731 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 27308731 27308731 C T SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.382 p.A128T 0.010 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 51 9 15.00 32 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26565671 26565671 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 26565671 26565671 C T SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.36 p.R12 0.066 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 38 16 29.63 15 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26688508 26688508 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 26688508 26688508 G A SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.231 p.A77 0.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 58 11 15.94 49 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26688897 26688897 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26688897 26688897 C T SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.620 p.S207L 0.136 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 6 6 50.00 22 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26688956 26688956 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 26688956 26688956 G C SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.679 p.D227H 0.021 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 12 4 25.00 10 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26707735 26707735 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 26707735 26707735 G A SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.1683 p.A561 0.682 superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 22 12 35.29 14 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26707926 26707926 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 26707926 26707926 G C SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.1874 p.R625T 1.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 13 10 43.48 16 0 0.00 SEZ6L 23544 genome.wustl.edu 37 22 26747131 26747131 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 26747131 26747131 G C SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.2521 p.E841Q 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 60 14 18.92 66 0 0.00 SEZ6L2 26470 genome.wustl.edu 37 16 29883600 29883600 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 29883600 29883600 G A SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known nonsense c.2611 p.Q871* 0.996 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 23 18 43.90 21 0 0.00 SEZ6L2 26470 genome.wustl.edu 37 16 29883830 29883830 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 29883830 29883830 G T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known missense c.2506 p.P836T 0.998 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 125 22 14.97 206 0 0.00 SEZ6L2 26470 genome.wustl.edu 37 16 29906726 29906726 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29906726 29906726 C T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known missense c.707 p.G236E 0.995 superfamily_CUB,smart_CUB,pfscan_CUB pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 84 27 24.11 80 0 0.00 SEZ6L2 26470 genome.wustl.edu 37 16 29910335 29910335 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 29910335 29910335 C T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known silent c.6 p.G2 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 28 10 26.32 34 0 0.00 SF1 7536 genome.wustl.edu 37 11 64535724 64535724 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 64535724 64535724 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.922 p.R308W 0.990 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 28 12 30.00 39 0 0.00 SF1 7536 genome.wustl.edu 37 11 64536694 64536694 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64536694 64536694 C A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known splice_site c.779+1 e7+1 1.000 - - - no_errors SF1 HGNC ENSG00000168066 16 6 27.27 39 0 0.00 SF1 7536 genome.wustl.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 64536711 64536711 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.763 p.R255W 0.989 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 38 19 33.33 50 0 0.00 SF1 7536 genome.wustl.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64536711 64536711 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.763 p.R255W 0.989 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 31 7 18.42 33 0 0.00 SF3A1 10291 genome.wustl.edu 37 22 30736706 30736706 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 30736706 30736706 G C SNP SF3A1 ENST00000215793 human ensembl 70_37 -1 known silent c.1167 p.V389 0.957 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 39 6 13.33 43 0 0.00 SF3A3 10946 genome.wustl.edu 37 1 38444671 38444671 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 38444671 38444671 C G SNP SF3A3 ENST00000373019 human ensembl 70_37 -1 known missense c.816 p.L272F 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 43 7 14.00 26 0 0.00 SF3A3 10946 genome.wustl.edu 37 1 38444715 38444715 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 38444715 38444715 G A SNP SF3A3 ENST00000373019 human ensembl 70_37 -1 known silent c.772 p.L258 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 76 17 18.28 72 0 0.00 SF3B1 23451 genome.wustl.edu 37 2 198260882 198260882 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 198260882 198260882 C G SNP SF3B1 ENST00000335508 human ensembl 70_37 -1 known missense c.3437 p.G1146A 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 59 14 19.18 68 0 0.00 SF3B1 23451 genome.wustl.edu 37 2 198260896 198260896 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 198260896 198260896 C T SNP SF3B1 ENST00000335508 human ensembl 70_37 -1 known silent c.3423 p.L1141 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 62 13 17.33 70 0 0.00 SF3B2 10992 genome.wustl.edu 37 11 65825538 65825538 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 65825538 65825538 C T SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known missense c.791 p.S264F 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 12 5 29.41 21 0 0.00 SF3B2 10992 genome.wustl.edu 37 11 65827432 65827432 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 65827432 65827432 C T SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known silent c.1581 p.F527 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 27 4 12.90 17 0 0.00 SF3B2 10992 genome.wustl.edu 37 11 65830913 65830913 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65830913 65830913 G A SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known missense c.2128 p.E710K 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 12 10 45.45 30 0 0.00 SF3B3 23450 genome.wustl.edu 37 16 70590890 70590890 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 70590890 70590890 G A SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known silent c.1968 p.E656 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 39 16 29.09 94 0 0.00 SF3B3 23450 genome.wustl.edu 37 16 70597901 70597901 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 70597901 70597901 A G SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known missense c.2411 p.H804R 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 23 11 32.35 41 0 0.00 SF3B3 23450 genome.wustl.edu 37 16 70603912 70603912 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 70603912 70603912 G A SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known missense c.3268 p.E1090K 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 42 11 20.75 28 0 0.00 SF3B4 10262 genome.wustl.edu 37 1 149898637 149898637 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 149898637 149898637 C G SNP SF3B4 ENST00000271628 human ensembl 70_37 -1 known missense c.337 p.E113Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 94 29 23.58 99 0 0.00 SF3B4 10262 genome.wustl.edu 37 1 149898700 149898700 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 149898700 149898700 G A SNP SF3B4 ENST00000271628 human ensembl 70_37 -1 known missense c.274 p.H92Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 113 19 14.39 98 0 0.00 SFI1 9814 genome.wustl.edu 37 22 31942899 31942899 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 31942899 31942899 G A SNP SFI1 ENST00000400288 human ensembl 70_37 +1 known missense c.391 p.E131K 1.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 22 7 24.14 27 0 0.00 SFI1 9814 genome.wustl.edu 37 22 32009453 32009453 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 32009453 32009453 C T SNP SFI1 ENST00000400288 human ensembl 70_37 +1 known silent c.2679 p.L893 0.982 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 22 4 15.38 23 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52939266 52939266 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52939266 52939266 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known silent c.2487 p.L829 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 18 4 18.18 33 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52941132 52941132 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52941132 52941132 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2284 p.R762C 0.976 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 57 16 21.92 73 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52941312 52941312 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 52941312 52941312 C T SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2104 p.E702K 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 14 5 26.32 37 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52941608 52941608 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52941608 52941608 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2048 p.S683F 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 40 20 33.33 54 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52962220 52962220 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 52962220 52962220 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known silent c.1035 p.I345 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 14 13 48.15 23 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 52988418 52988418 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52988418 52988418 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.38 p.S13F 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 38 18 32.14 49 0 0.00 SFMBT1 51460 genome.wustl.edu 37 3 53003241 53003241 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 53003241 53003241 G A SNP SFMBT1 ENST00000470575 human ensembl 70_37 -1 known rna NULL NULL 0.335 - - - no_errors SFMBT1 HGNC ENSG00000163935 36 13 26.53 46 0 0.00 SFMBT2 57713 genome.wustl.edu 37 10 7218004 7218004 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 7218004 7218004 C T SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known silent c.1932 p.L644 0.981 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 65 12 15.58 81 0 0.00 SFMBT2 57713 genome.wustl.edu 37 10 7244472 7244472 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 7244472 7244472 C G SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known missense c.1457 p.R486T 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 30 21 41.18 61 0 0.00 SFMBT2 57713 genome.wustl.edu 37 10 7318929 7318929 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 7318929 7318929 G A SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known silent c.795 p.A265 0.871 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 10 3 23.08 29 0 0.00 SFMBT2 57713 genome.wustl.edu 37 10 7423844 7423844 + Nonsense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 7423844 7423844 G C SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.049 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 49 7 12.28 117 0 0.00 SFN 2810 genome.wustl.edu 37 1 27189709 27189709 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27189709 27189709 G A SNP SFN ENST00000339276 human ensembl 70_37 +1 known silent c.6 p.E2 0.984 superfamily_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC ENSG00000175793 47 21 30.88 65 0 0.00 SFN 2810 genome.wustl.edu 37 1 27190424 27190424 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27190424 27190424 G A SNP SFN ENST00000339276 human ensembl 70_37 +1 known missense c.721 p.E241K 1.000 smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC ENSG00000175793 28 27 49.09 55 0 0.00 SFPQ 6421 genome.wustl.edu 37 1 35645341 35645341 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 35645341 35645341 G T SNP SFPQ ENST00000468598 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors SFPQ HGNC ENSG00000116560 35 25 41.67 40 0 0.00 SFPQ 6421 genome.wustl.edu 37 1 35650092 35650092 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35650092 35650092 C G SNP SFPQ ENST00000357214 human ensembl 70_37 -1 known missense c.2089 p.E697Q 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 21 20 48.78 30 0 0.00 SFPQ 6421 genome.wustl.edu 37 1 35654964 35654964 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 35654964 35654964 G A SNP SFPQ ENST00000357214 human ensembl 70_37 -1 known missense c.1435 p.R479C 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 30 21 41.18 35 0 0.00 SFR1 119392 genome.wustl.edu 37 10 105882805 105882805 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105882805 105882805 G A SNP SFR1 ENST00000336358 human ensembl 70_37 +1 known silent c.282 p.A94 0.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC ENSG00000156384 9 4 30.77 22 0 0.00 SFR1 119392 genome.wustl.edu 37 10 105885337 105885337 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105885337 105885337 G A SNP SFR1 ENST00000336358 human ensembl 70_37 +1 known missense c.799 p.E267K 1.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC ENSG00000156384 29 36 55.38 71 0 0.00 SFRP1 6422 genome.wustl.edu 37 8 41122839 41122839 + Silent SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 41122839 41122839 G C SNP SFRP1 ENST00000220772 human ensembl 70_37 -1 known silent c.792 p.L264 0.969 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 50 25 33.33 82 0 0.00 SFRP2 6423 genome.wustl.edu 37 4 154709955 154709956 + In_Frame_Ins INS - - AGC TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 154709955 154709956 - AGC INS SFRP2 ENST00000274063 human ensembl 70_37 -1 known in_frame_ins c.33_32 p.12in_frame_insL 0.009:0.677 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 11 8 42.11 11 0 0.00 SFRP4 6424 genome.wustl.edu 37 7 37956057 37956057 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 37956057 37956057 C T SNP SFRP4 ENST00000436072 human ensembl 70_37 -1 known missense c.83 p.R28H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 53 22 29.33 23 0 0.00 SFRP5 6425 genome.wustl.edu 37 10 99527272 99527272 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 99527272 99527272 C T SNP SFRP5 ENST00000266066 human ensembl 70_37 -1 known silent c.953 p.*318 0.998 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP5 HGNC ENSG00000120057 24 13 34.21 40 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132195808 132195808 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 132195808 132195808 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.34 p.E12K 0.940 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 12 13 52.00 15 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132211567 132211567 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 132211567 132211567 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 52 8 13.33 79 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132239001 132239001 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 132239001 132239001 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1411 p.G471S 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 63 42 40.00 71 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132239006 132239006 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 132239006 132239006 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known silent c.1416 p.L472 0.430 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 71 20 21.98 93 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132249087 132249087 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132249087 132249087 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1807 p.D603N 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 27 15 35.71 56 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132249105 132249105 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132249105 132249105 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1825 p.E609K 0.995 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 26 13 33.33 54 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132250835 132250835 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 132250835 132250835 G C SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.2124 p.E708D 0.118 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 37 14 27.45 29 0 0.00 SFSWAP 6433 genome.wustl.edu 37 12 132284171 132284171 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 132284171 132284171 G C SNP SFSWAP ENST00000539506 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SFSWAP HGNC ENSG00000061936 18 8 30.77 61 0 0.00 SFTPA1 653509 genome.wustl.edu 37 10 81373001 81373001 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 81373001 81373001 C G SNP SFTPA1 ENST00000419470 human ensembl 70_37 +1 known missense c.394 p.Q132E 0.836 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC ENSG00000122852 34 25 42.37 97 0 0.00 SFTPA2 729238 genome.wustl.edu 37 10 81317074 81317074 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 81317074 81317074 C T SNP SFTPA2 ENST00000372325 human ensembl 70_37 -1 known missense c.638 p.R213Q 0.994 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 50 6 10.71 43 0 0.00 SFTPA2 729238 genome.wustl.edu 37 10 81319157 81319157 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 81319157 81319157 C G SNP SFTPA2 ENST00000372325 human ensembl 70_37 -1 known missense c.83 p.G28A 0.079 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 19 8 29.63 38 0 0.00 SFTPC 6440 genome.wustl.edu 37 8 22017204 22017204 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 22017204 22017204 C G SNP SFTPC ENST00000524318 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SFTPC HGNC ENSG00000168484 11 8 42.11 14 0 0.00 SFTPC 6440 genome.wustl.edu 37 8 22021029 22021029 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 22021029 22021029 G T SNP SFTPC ENST00000318561 human ensembl 70_37 +1 known missense c.405 p.E135D 0.980 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 15 4 21.05 12 0 0.00 SFTPC 6440 genome.wustl.edu 37 8 22021506 22021506 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 22021506 22021506 C T SNP SFTPC ENST00000318561 human ensembl 70_37 +1 known silent c.546 p.G182 0.843 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 33 13 28.26 59 0 0.00 SFTPD 6441 genome.wustl.edu 37 10 81701751 81701751 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 81701751 81701751 A G SNP SFTPD ENST00000372292 human ensembl 70_37 -1 known missense c.509 p.V170A 0.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 17 12 41.38 53 0 0.00 SFXN1 94081 genome.wustl.edu 37 5 174940540 174940540 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 174940540 174940540 A C SNP SFXN1 ENST00000321442 human ensembl 70_37 +1 known missense c.671 p.Q224P 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN1 HGNC ENSG00000164466 27 10 27.03 48 0 0.00 SFXN2 118980 genome.wustl.edu 37 10 104491964 104491964 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104491964 104491964 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known missense c.710 p.A237V 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 64 29 31.18 78 0 0.00 SFXN2 118980 genome.wustl.edu 37 10 104492659 104492659 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 104492659 104492659 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 30 7 18.42 34 0 0.00 SFXN2 118980 genome.wustl.edu 37 10 104492659 104492659 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 104492659 104492659 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 32 14 30.43 66 0 0.00 SFXN4 119559 genome.wustl.edu 37 10 120916222 120916222 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120916222 120916222 C A SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known missense c.584 p.W195L 0.000 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 17 3 15.00 36 0 0.00 SFXN4 119559 genome.wustl.edu 37 10 120917551 120917551 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 10 120917551 120917551 C T SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known silent c.384 p.L128 0.000 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 56 37 39.78 118 0 0.00 SFXN4 119559 genome.wustl.edu 37 10 120920455 120920455 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 120920455 120920455 G T SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known missense c.306 p.N102K 0.015 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 98 44 30.99 81 0 0.00 SFXN5 94097 genome.wustl.edu 37 2 73171779 73171779 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 73171779 73171779 C G SNP SFXN5 ENST00000461352 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SFXN5 HGNC ENSG00000144040 31 10 24.39 33 0 0.00 SFXN5 94097 genome.wustl.edu 37 2 73285676 73285676 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 73285676 73285676 C T SNP SFXN5 ENST00000272433 human ensembl 70_37 -1 known missense c.152 p.R51H 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 52 29 35.80 57 0 0.00 SGCA 6442 genome.wustl.edu 37 17 48246517 48246517 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 48246517 48246517 G A SNP SGCA ENST00000262018 human ensembl 70_37 +1 known missense c.649 p.D217N 0.567 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 15 10 40.00 31 0 0.00 SGCD 6444 genome.wustl.edu 37 5 155771677 155771677 + Missense_Mutation SNP A A C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 155771677 155771677 A C SNP SGCD ENST00000337851 human ensembl 70_37 +1 known missense c.182 p.N61T 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 96 16 14.29 115 1 0.86 SGCD 6444 genome.wustl.edu 37 5 156016295 156016295 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 156016295 156016295 G A SNP SGCD ENST00000337851 human ensembl 70_37 +1 known missense c.349 p.D117N 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 44 16 26.67 46 0 0.00 SGCE 8910 genome.wustl.edu 37 7 94257516 94257516 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 94257516 94257516 C G SNP SGCE ENST00000445866 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 43 39 47.56 60 0 0.00 SGCG 6445 genome.wustl.edu 37 13 23777968 23777968 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 23777968 23777968 C T SNP SGCG ENST00000218867 human ensembl 70_37 +1 known silent c.135 p.I45 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 54 15 21.74 54 0 0.00 SGCG 6445 genome.wustl.edu 37 13 23898522 23898522 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 23898522 23898522 G A SNP SGCG ENST00000218867 human ensembl 70_37 +1 known missense c.718 p.E240K 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 95 23 19.49 97 0 0.00 SGCZ 137868 genome.wustl.edu 37 8 15095119 15095119 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 15095119 15095119 G A SNP SGCZ ENST00000382080 human ensembl 70_37 -1 known missense c.14 p.T5M 0.033 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 12 4 25.00 29 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 66999882 66999882 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 66999882 66999882 C A SNP SGIP1 ENST00000468286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SGIP1 HGNC ENSG00000118473 18 3 14.29 26 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67109411 67109412 + RNA DEL TG TG - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 67109411 67109412 TG - DEL SGIP1 ENST00000483060 human ensembl 70_37 +1 known rna NULL NULL 0.058:0.051 - - - no_errors SGIP1 HGNC ENSG00000118473 4 2 33.33 19 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67139031 67139031 + Missense_Mutation SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 67139031 67139031 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.640 p.D214H 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 178 82 31.42 273 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67139039 67139039 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 67139039 67139039 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.648 p.Q216H 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 21 16 43.24 34 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67154849 67154849 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 67154849 67154849 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.1427 p.R476P 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 14 20 58.82 32 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67160939 67160939 + RNA DEL A A - TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 67160939 67160939 A - DEL SGIP1 ENST00000320161 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors SGIP1 HGNC ENSG00000118473 25 4 13.79 18 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67160939 67160939 + RNA DEL A A - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 67160939 67160939 A - DEL SGIP1 ENST00000320161 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors SGIP1 HGNC ENSG00000118473 23 3 11.54 27 0 0.00 SGIP1 84251 genome.wustl.edu 37 1 67185048 67185048 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 67185048 67185048 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.1795 p.E599Q 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 36 23 38.33 70 0 0.00 SGK1 6446 genome.wustl.edu 37 6 134498933 134498933 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 134498933 134498933 C G SNP SGK1 ENST00000528577 human ensembl 70_37 -1 known missense c.28 p.E10Q 0.038 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK1 HGNC ENSG00000118515 41 24 36.92 50 0 0.00 SGK2 10110 genome.wustl.edu 37 20 42198062 42198062 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 42198062 42198062 A C SNP SGK2 ENST00000341458 human ensembl 70_37 +1 known missense c.446 p.K149T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 46 9 16.36 79 0 0.00 SGK223 157285 genome.wustl.edu 37 8 8176083 8176083 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 8 8176083 8176083 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.3802 p.E1268K 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename ENSG00000182319 62 17 21.52 67 0 0.00 SGK223 157285 genome.wustl.edu 37 8 8176255 8176255 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 8176255 8176255 G A SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known silent c.3630 p.I1210 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename ENSG00000182319 22 8 26.67 43 0 0.00 SGK223 157285 genome.wustl.edu 37 8 8185835 8185835 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 8185835 8185835 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known silent c.2457 p.V819 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename ENSG00000182319 32 19 36.54 43 0 0.00 SGK223 157285 genome.wustl.edu 37 8 8185888 8185888 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 8185888 8185888 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.2404 p.V802M 0.966 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename ENSG00000182319 19 9 32.14 29 0 0.00 SGK223 157285 genome.wustl.edu 37 8 8235381 8235381 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 8235381 8235381 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.538 p.V180M 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename ENSG00000182319 38 58 60.42 102 0 0.00 SGK3 23678 genome.wustl.edu 37 8 67748022 67748022 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67748022 67748022 G C SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.550 p.D184H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 50 19 27.54 76 0 0.00 SGK3 23678 genome.wustl.edu 37 8 67748196 67748196 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67748196 67748196 G A SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.628 p.E210K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 41 15 26.79 54 0 0.00 SGK3 23678 genome.wustl.edu 37 8 67748268 67748268 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67748268 67748268 G A SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 29 7 18.92 54 0 0.00 SGK3 23678 genome.wustl.edu 37 8 67753177 67753177 + RNA DEL A A - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 67753177 67753177 A - DEL SGK3 ENST00000523260 human ensembl 70_37 +1 putative rna NULL NULL 0.034 - - - no_errors SGK3 HGNC ENSG00000104205 11 5 31.25 14 0 0.00 SGK494 124923 genome.wustl.edu 37 17 26938458 26938458 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26938458 26938458 C T SNP SGK494 ENST00000301037 human ensembl 70_37 -1 known missense c.853 p.D285N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK494 Uniprot_genename ENSG00000167524 43 18 29.51 61 0 0.00 SGK494 124923 genome.wustl.edu 37 17 26940567 26940567 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 26940567 26940567 G A SNP SGK494 ENST00000301037 human ensembl 70_37 -1 known missense c.215 p.A72V 0.735 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK494 Uniprot_genename ENSG00000167524 92 31 25.00 46 0 0.00 SGMS1 259230 genome.wustl.edu 37 10 52067007 52067007 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 52067007 52067007 C G SNP SGMS1 ENST00000361781 human ensembl 70_37 -1 known missense c.1137 p.K379N 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 19 7 26.92 41 0 0.00 SGOL1 151648 genome.wustl.edu 37 3 20202665 20202665 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 20202665 20202665 G A SNP SGOL1 ENST00000263753 human ensembl 70_37 -1 known nonsense c.1618 p.R540* 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 7 8 53.33 48 0 0.00 SGOL1 151648 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 10 2 16.67 17 0 0.00 SGOL1 151648 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 13 4 23.53 18 0 0.00 SGOL1 151648 genome.wustl.edu 37 3 20225407 20225407 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 20225407 20225407 G C SNP SGOL1 ENST00000263753 human ensembl 70_37 -1 known missense c.113 p.S38C 0.195 pfam_Shugoshin_N pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 17 13 43.33 22 0 0.00 SGOL2 151246 genome.wustl.edu 37 2 201436969 201436969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201436969 201436969 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.1900 p.D634H 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 18 9 33.33 30 0 0.00 SGOL2 151246 genome.wustl.edu 37 2 201437743 201437743 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 201437743 201437743 G T SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.2674 p.D892Y 0.062 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 5 7 58.33 15 0 0.00 SGOL2 151246 genome.wustl.edu 37 2 201438500 201438500 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 201438500 201438500 C T SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3431 p.S1144L 0.882 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 43 17 28.33 51 0 0.00 SGOL2 151246 genome.wustl.edu 37 2 201438514 201438514 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 201438514 201438514 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3445 p.D1149H 0.121 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 108 33 23.40 119 0 0.00 SGOL2 151246 genome.wustl.edu 37 2 201440108 201440108 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 201440108 201440108 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3706 p.E1236Q 0.540 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 99 37 27.21 112 0 0.00 SGPL1 8879 genome.wustl.edu 37 10 72614556 72614556 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 72614556 72614556 C A SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.353 p.S118Y 0.354 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 27 4 12.90 48 0 0.00 SGPL1 8879 genome.wustl.edu 37 10 72631650 72631650 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 72631650 72631650 C G SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known silent c.966 p.L322 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 34 22 39.29 52 0 0.00 SGPL1 8879 genome.wustl.edu 37 10 72633155 72633155 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 72633155 72633155 G A SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known silent c.1107 p.K369 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 33 20 37.74 80 0 0.00 SGPL1 8879 genome.wustl.edu 37 10 72633330 72633330 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 72633330 72633330 C T SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.1282 p.R428C 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 166 72 30.13 219 0 0.00 SGPL1 8879 genome.wustl.edu 37 10 72637064 72637064 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 72637064 72637064 A G SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.1679 p.Q560R 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 34 16 31.37 75 0 0.00 SGPP1 81537 genome.wustl.edu 37 14 64194288 64194288 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 64194288 64194288 G T SNP SGPP1 ENST00000247225 human ensembl 70_37 -1 known missense c.375 p.N125K 0.999 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 15 3 16.67 18 0 0.00 SGPP2 130367 genome.wustl.edu 37 2 223423365 223423365 + Silent SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 223423365 223423365 C G SNP SGPP2 ENST00000321276 human ensembl 70_37 +1 known silent c.948 p.L316 0.991 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC ENSG00000163082 69 30 30.30 121 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25264726 25264726 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25264726 25264726 C G SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.1195 p.Q399E 0.997 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 37 28 43.08 47 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25280109 25280109 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 25280109 25280109 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.1750 p.D584N 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 36 25 40.98 43 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25282579 25282579 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 25282579 25282579 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known nonsense c.1819 p.Q607* 0.999 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 35 4 10.26 45 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25289571 25289571 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 25289571 25289571 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known silent c.2109 p.I703 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 36 16 30.77 61 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 39 7 15.22 29 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 44 16 26.67 42 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 16 20 55.56 13 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25297862 25297862 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 22 25297862 25297862 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known silent c.2838 p.C946 0.244 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 15 33 67.35 35 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25320198 25320198 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 22 25320198 25320198 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.3404 p.R1135Q 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 29 12 29.27 39 0 0.00 SGSM1 129049 genome.wustl.edu 37 22 25320198 25320198 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 22 25320198 25320198 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.3404 p.R1135Q 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 34 25 42.37 31 0 0.00 SGSM2 9905 genome.wustl.edu 37 17 2276743 2276743 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 2276743 2276743 C T SNP SGSM2 ENST00000268989 human ensembl 70_37 +1 known missense c.2036 p.S679L 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 135 45 25.00 74 0 0.00 SGSM3 27352 genome.wustl.edu 37 22 40800404 40800404 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 40800404 40800404 C T SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.311 p.S104F 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 59 36 37.89 122 0 0.00 SGSM3 27352 genome.wustl.edu 37 22 40801689 40801689 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 40801689 40801689 G A SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.655 p.D219N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 21 22 51.16 71 0 0.00 SGSM3 27352 genome.wustl.edu 37 22 40803462 40803462 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 40803462 40803462 G A SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.1414 p.E472K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 39 5 11.36 61 0 0.00 SGSM3 27352 genome.wustl.edu 37 22 40803462 40803462 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 40803462 40803462 G A SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.1414 p.E472K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 43 5 10.42 37 0 0.00 SGSM3 27352 genome.wustl.edu 37 22 40804696 40804697 + Frame_Shift_Ins INS - - T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 40804696 40804697 - T INS SGSM3 ENST00000248929 human ensembl 70_37 +1 known frame_shift_ins c.1848_1849 p.R617fs 0.300:0.997 pfam_Run,pfscan_Run pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 57 8 12.31 69 0 0.00 SGTA 6449 genome.wustl.edu 37 19 2762565 2762565 + Missense_Mutation SNP T T C TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 2762565 2762565 T C SNP SGTA ENST00000221566 human ensembl 70_37 -1 known missense c.575 p.N192S 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 1 6 85.71 29 0 0.00 SGTA 6449 genome.wustl.edu 37 19 2765192 2765192 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 2765192 2765192 G C SNP SGTA ENST00000221566 human ensembl 70_37 -1 known missense c.384 p.F128L 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 14 8 36.36 27 0 0.00 SGTA 6449 genome.wustl.edu 37 19 2767201 2767201 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 2767201 2767201 C T SNP SGTA ENST00000221566 human ensembl 70_37 -1 known silent c.225 p.L75 0.038 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 61 23 27.38 107 0 0.00 SGTB 54557 genome.wustl.edu 37 5 64966100 64966100 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64966100 64966100 G A SNP SGTB ENST00000381007 human ensembl 70_37 -1 known silent c.888 p.F296 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 42 18 30.00 64 0 0.00 SGTB 54557 genome.wustl.edu 37 5 64976529 64976529 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 64976529 64976529 G A SNP SGTB ENST00000381007 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 20 9 31.03 17 0 0.00 SH2B1 25970 genome.wustl.edu 37 16 28877623 28877623 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 28877623 28877623 G C SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.208 p.E70Q 1.000 pfam_Phe_ZIP,superfamily_Phe_ZIP pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 17 4 19.05 15 0 0.00 SH2B1 25970 genome.wustl.edu 37 16 28877740 28877740 + Missense_Mutation SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 16 28877740 28877740 G C SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.325 p.E109Q 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 15 3 16.67 27 0 0.00 SH2B1 25970 genome.wustl.edu 37 16 28878683 28878683 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 28878683 28878683 C G SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.971 p.S324C 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 34 20 37.04 65 0 0.00 SH2B1 25970 genome.wustl.edu 37 16 28884849 28884849 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 28884849 28884849 C A SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.1979 p.A660E 0.994 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 14 5 26.32 11 0 0.00 SH2B1 25970 genome.wustl.edu 37 16 28884923 28884923 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 28884923 28884923 G A SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.2053 p.G685S 0.985 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 33 9 21.43 19 0 0.00 SH2D3A 10045 genome.wustl.edu 37 19 6754258 6754258 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 6754258 6754258 G A SNP SH2D3A ENST00000437152 human ensembl 70_37 -1 novel missense c.910 p.R304C 0.111 NULL superfamily_Ras_GEF_dom - no_errors SH2D3A HGNC ENSG00000125731 1 9 90.00 22 0 0.00 SH2D3A 10045 genome.wustl.edu 37 19 6755149 6755149 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 6755149 6755149 G C SNP SH2D3A ENST00000245908 human ensembl 70_37 -1 known missense c.674 p.S225C 0.297 superfamily_Ras_GEF_dom pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 354 71 16.71 336 0 0.00 SH2D3A 10045 genome.wustl.edu 37 19 6760703 6760703 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6760703 6760703 C T SNP SH2D3A ENST00000245908 human ensembl 70_37 -1 known missense c.365 p.R122H 0.249 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 41 10 19.61 50 0 0.00 SH2D4A 63898 genome.wustl.edu 37 8 19250842 19250842 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 19250842 19250842 C G SNP SH2D4A ENST00000265807 human ensembl 70_37 +1 known silent c.1062 p.L354 0.015 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 23 22 47.83 94 0 0.00 SH2D5 400745 genome.wustl.edu 37 1 21048338 21048338 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 21048338 21048338 G C SNP SH2D5 ENST00000444387 human ensembl 70_37 -1 known missense c.1219 p.L407V 0.093 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 23 21 46.67 49 0 0.00 SH2D5 400745 genome.wustl.edu 37 1 21050664 21050664 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 21050664 21050664 C G SNP SH2D5 ENST00000444387 human ensembl 70_37 -1 known missense c.711 p.K237N 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 18 3 14.29 19 0 0.00 SH2D6 284948 genome.wustl.edu 37 2 85657723 85657723 + RNA SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 85657723 85657723 C A SNP SH2D6 ENST00000481426 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors SH2D6 HGNC ENSG00000152292 29 38 56.72 61 0 0.00 SH2D6 284948 genome.wustl.edu 37 2 85660240 85660240 + RNA SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 85660240 85660240 G C SNP SH2D6 ENST00000481426 human ensembl 70_37 +1 known rna NULL NULL 0.244 - - - no_errors SH2D6 HGNC ENSG00000152292 29 11 27.50 19 0 0.00 SH2D7 646892 genome.wustl.edu 37 15 78385042 78385042 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 78385042 78385042 C A SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel missense c.116 p.A39D 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 19 17 47.22 25 0 0.00 SH2D7 646892 genome.wustl.edu 37 15 78386459 78386459 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 78386459 78386459 C T SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel missense c.182 p.T61M 0.998 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 26 10 27.78 54 0 0.00 SH2D7 646892 genome.wustl.edu 37 15 78386532 78386532 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 78386532 78386532 C T SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel silent c.255 p.I85 0.989 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 21 14 40.00 50 0 0.00 SH3BP1 23616 genome.wustl.edu 37 22 38041472 38041472 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 38041472 38041472 C T SNP SH3BP1 ENST00000357436 human ensembl 70_37 +1 known silent c.879 p.I293 0.494 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 40 49 55.06 76 0 0.00 SH3BP1 23616 genome.wustl.edu 37 22 38046109 38046109 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 38046109 38046109 G C SNP SH3BP1 ENST00000336738 human ensembl 70_37 +1 known missense c.1333 p.E445Q 0.002 smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 40 7 14.89 38 0 0.00 SH3BP1 23616 genome.wustl.edu 37 22 38046671 38046671 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38046671 38046671 C A SNP SH3BP1 ENST00000357436 human ensembl 70_37 +1 known missense c.1537 p.P513T 0.059 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 135 28 17.18 57 0 0.00 SH3BP2 6452 genome.wustl.edu 37 4 2831361 2831361 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 2831361 2831361 G A SNP SH3BP2 ENST00000503393 human ensembl 70_37 +1 known missense c.899 p.G300D 0.870 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 65 8 10.96 81 0 0.00 SH3BP2 6452 genome.wustl.edu 37 4 2831494 2831494 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 2831494 2831494 C T SNP SH3BP2 ENST00000503393 human ensembl 70_37 +1 known silent c.1032 p.T344 0.000 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 11 15 57.69 62 0 0.00 SH3BP4 23677 genome.wustl.edu 37 2 235949858 235949858 + Missense_Mutation SNP A A C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 235949858 235949858 A C SNP SH3BP4 ENST00000344528 human ensembl 70_37 +1 known missense c.445 p.K149Q 0.091 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 4 11 73.33 16 0 0.00 SH3BP5 9467 genome.wustl.edu 37 3 15311349 15311349 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 15311349 15311349 G T SNP SH3BP5 ENST00000383791 human ensembl 70_37 -1 known missense c.366 p.F122L 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 9 11 55.00 34 0 0.00 SH3BP5-AS1 100505696 genome.wustl.edu 37 3 15297502 15297502 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 15297502 15297502 G C SNP SH3BP5-AS1 ENST00000420195 human ensembl 70_37 +1 known rna NULL NULL 0.435 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 25 6 19.35 39 0 0.00 SH3BP5L 80851 genome.wustl.edu 37 1 249105132 249105132 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 249105132 249105132 G A SNP SH3BP5L ENST00000475978 human ensembl 70_37 -1 known rna NULL NULL 0.318 - - - no_errors SH3BP5L HGNC ENSG00000175137 35 10 22.22 27 0 0.00 SH3D19 152503 genome.wustl.edu 37 4 152054300 152054300 + Missense_Mutation SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 4 152054300 152054300 C G SNP SH3D19 ENST00000304527 human ensembl 70_37 -1 known missense c.1804 p.E602Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 12 6 31.58 35 0 0.00 SH3D19 152503 genome.wustl.edu 37 4 152065075 152065075 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 152065075 152065075 C G SNP SH3D19 ENST00000304527 human ensembl 70_37 -1 known missense c.1439 p.R480T 0.008 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 34 11 24.44 32 0 0.00 SH3D21 79729 genome.wustl.edu 37 1 36784876 36784876 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 36784876 36784876 C T SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known silent c.879 p.P293 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 25 8 24.24 36 0 0.00 SH3D21 79729 genome.wustl.edu 37 1 36785319 36785319 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36785319 36785319 G A SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known missense c.1055 p.R352K 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 66 21 24.14 61 0 0.00 SH3D21 79729 genome.wustl.edu 37 1 36786140 36786142 + In_Frame_Del DEL GAG GAG - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36786140 36786142 GAG - DEL SH3D21 ENST00000453908 human ensembl 70_37 +1 known in_frame_del c.1876_1878 p.E627in_frame_del 0.000:0.004:0.017 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 24 14 36.84 49 0 0.00 SH3D21 79729 genome.wustl.edu 37 1 36786216 36786216 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 36786216 36786216 G C SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known missense c.1952 p.R651T 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 54 12 18.18 54 0 0.00 SH3GL1 6455 genome.wustl.edu 37 19 4361723 4361723 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 4361723 4361723 G A SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known silent c.981 p.F327 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 48 19 28.36 71 0 0.00 SH3GL1 6455 genome.wustl.edu 37 19 4362348 4362348 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4362348 4362348 G C SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known missense c.888 p.I296M 0.701 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 51 28 35.44 50 0 0.00 SH3GL1 6455 genome.wustl.edu 37 19 4362616 4362616 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 4362616 4362616 C G SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known missense c.846 p.K282N 0.447 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 39 6 13.33 70 0 0.00 SH3GL1 6455 genome.wustl.edu 37 19 4364097 4364097 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 4364097 4364097 C T SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known silent c.453 p.L151 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 55 11 16.67 77 0 0.00 SH3GL1P1 6458 genome.wustl.edu 37 17 30367387 30367387 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 30367387 30367387 G C SNP SH3GL1P1 ENST00000582640 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 3 10 76.92 9 0 0.00 SH3GL1P1 6458 genome.wustl.edu 37 17 30367483 30367483 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 30367483 30367483 C G SNP SH3GL1P1 ENST00000582640 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 7 5 41.67 20 0 0.00 SH3GL1P1 6458 genome.wustl.edu 37 17 30368536 30368536 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 30368536 30368536 C G SNP SH3GL1P1 ENST00000579186 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 10 17 62.96 39 0 0.00 SH3GLB1 51100 genome.wustl.edu 37 1 87185229 87185229 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 87185229 87185229 G C SNP SH3GLB1 ENST00000482504 human ensembl 70_37 +1 known missense c.254 p.R85T 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 17 8 32.00 38 0 0.00 SH3GLB1 51100 genome.wustl.edu 37 1 87188292 87188292 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 87188292 87188292 C T SNP SH3GLB1 ENST00000482504 human ensembl 70_37 +1 known missense c.413 p.T138M 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 31 14 31.11 27 0 0.00 SH3KBP1 30011 genome.wustl.edu 37 X 19568181 19568181 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 19568181 19568181 C T SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known missense c.1405 p.V469M 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 21 71 77.17 82 0 0.00 SH3KBP1 30011 genome.wustl.edu 37 X 19626095 19626095 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 19626095 19626095 G A SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known silent c.966 p.F322 0.989 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 42 15 26.32 51 0 0.00 SH3KBP1 30011 genome.wustl.edu 37 X 19713767 19713767 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 19713767 19713767 C T SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known silent c.483 p.E161 0.510 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 138 36 20.69 75 0 0.00 SH3KBP1 30011 genome.wustl.edu 37 X 19764468 19764468 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 19764468 19764468 G C SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known missense c.254 p.S85C 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 26 16 38.10 31 0 0.00 SH3PXD2B 285590 genome.wustl.edu 37 5 171765890 171765890 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 171765890 171765890 G C SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.2219 p.S740C 0.002 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 24 9 27.27 42 0 0.00 SH3PXD2B 285590 genome.wustl.edu 37 5 171766545 171766545 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 171766545 171766545 G C SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.1564 p.L522V 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 45 18 28.57 64 0 0.00 SH3PXD2B 285590 genome.wustl.edu 37 5 171766800 171766800 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 171766800 171766800 G A SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known silent c.1309 p.L437 0.985 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 33 13 28.26 44 0 0.00 SH3PXD2B 285590 genome.wustl.edu 37 5 171777403 171777403 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 171777403 171777403 C G SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.976 p.E326Q 0.729 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 47 11 18.97 41 0 0.00 SH3RF1 57630 genome.wustl.edu 37 4 170037479 170037479 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 170037479 170037479 C T SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.2080 p.D694N 0.951 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 28 60 68.18 41 0 0.00 SH3RF1 57630 genome.wustl.edu 37 4 170038882 170038882 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 170038882 170038882 C G SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.1569 p.Q523H 0.799 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 4 5 55.56 9 0 0.00 SH3RF1 57630 genome.wustl.edu 37 4 170077646 170077646 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 170077646 170077646 G A SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.578 p.P193L 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 51 14 21.54 66 0 0.00 SH3RF2 153769 genome.wustl.edu 37 5 145317770 145317770 + Silent SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 145317770 145317770 G T SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known silent c.279 p.T93 0.320 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 22 3 12.00 24 0 0.00 SH3RF2 153769 genome.wustl.edu 37 5 145379738 145379738 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145379738 145379738 G A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.496 p.E166K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 53 16 23.19 35 0 0.00 SH3RF2 153769 genome.wustl.edu 37 5 145379827 145379827 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 145379827 145379827 C G SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known silent c.585 p.L195 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 33 7 17.50 26 0 0.00 SH3RF2 153769 genome.wustl.edu 37 5 145428792 145428792 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 145428792 145428792 G A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.1306 p.V436I 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 22 7 24.14 53 0 0.00 SH3RF2 153769 genome.wustl.edu 37 5 145435737 145435737 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 145435737 145435737 C A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.1516 p.Q506K 0.990 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 14 7 33.33 23 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8211480 8211480 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 8211480 8211480 G T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.178 p.A60S 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 21 11 34.38 48 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8218729 8218729 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 8218729 8218729 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.674 p.T225M 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 44 28 38.89 83 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8228872 8228872 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 8228872 8228872 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.1451 p.S484F 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 27 10 27.03 51 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8229939 8229939 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 8229939 8229939 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known nonsense c.2518 p.Q840* 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 21 21 50.00 68 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8233776 8233776 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 8233776 8233776 C G SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.3024 p.I1008M 1.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 50 46 47.92 86 0 0.00 SH3TC1 54436 genome.wustl.edu 37 4 8239286 8239286 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 8239286 8239286 C G SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.3642 p.F1214L 1.000 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 31 4 11.43 48 0 0.00 SH3TC2 79628 genome.wustl.edu 37 5 148386525 148386525 + Silent SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 148386525 148386525 T G SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known silent c.3594 p.P1198 0.142 smart_TPR_repeat pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 60 8 11.76 77 0 0.00 SH3TC2 79628 genome.wustl.edu 37 5 148406351 148406351 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 148406351 148406351 G A SNP SH3TC2 ENST00000394358 human ensembl 70_37 -1 known nonsense c.2599 p.Q867* 0.000 NULL pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 58 87 60.00 206 0 0.00 SH3TC2 79628 genome.wustl.edu 37 5 148407944 148407944 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 148407944 148407944 C T SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known missense c.1351 p.E451K 0.978 NULL pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 21 6 22.22 16 0 0.00 SH3TC2 79628 genome.wustl.edu 37 5 148422400 148422400 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 148422400 148422400 C A SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known missense c.386 p.G129V 1.000 NULL pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 34 39 53.42 58 0 0.00 SHANK1 50944 genome.wustl.edu 37 19 51165386 51165386 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51165386 51165386 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.6346 p.E2116Q 0.998 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 50 6 10.71 59 0 0.00 SHANK1 50944 genome.wustl.edu 37 19 51169762 51169762 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51169762 51169762 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.5479 p.E1827Q 0.964 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 12 2 14.29 15 0 0.00 SHANK1 50944 genome.wustl.edu 37 19 51169762 51169762 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51169762 51169762 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.5479 p.E1827Q 0.964 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 39 12 23.53 27 0 0.00 SHANK2 22941 genome.wustl.edu 37 11 70319407 70319407 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 70319407 70319407 C T SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.5120 p.R1707H 0.864 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 52 13 20.00 101 0 0.00 SHANK2 22941 genome.wustl.edu 37 11 70332901 70332901 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 70332901 70332901 G A SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.3500 p.P1167L 0.997 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 11 6 35.29 23 0 0.00 SHANK2 22941 genome.wustl.edu 37 11 70333107 70333107 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 70333107 70333107 C T SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known silent c.3294 p.R1098 0.999 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 73 20 21.51 83 0 0.00 SHANK2 22941 genome.wustl.edu 37 11 70333726 70333726 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 70333726 70333726 G A SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.2675 p.P892L 0.996 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 191 22 10.28 57 0 0.00 SHANK2 22941 genome.wustl.edu 37 11 70672691 70672691 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 70672691 70672691 C T SNP SHANK2 ENST00000468619 human ensembl 70_37 -1 known rna NULL NULL 0.053 - - - no_errors SHANK2 HGNC ENSG00000162105 15 6 28.57 19 0 0.00 SHANK3 85358 genome.wustl.edu 37 22 51113565 51113565 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 51113565 51113565 C T SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known silent c.153 p.L51 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 4 5 55.56 14 0 0.00 SHANK3 85358 genome.wustl.edu 37 22 51117841 51117841 + Silent SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 22 51117841 51117841 T C SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known silent c.870 p.C290 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 46 15 24.59 62 0 0.00 SHANK3 85358 genome.wustl.edu 37 22 51121780 51121780 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 51121780 51121780 C T SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known missense c.898 p.R300C 0.945 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 30 5 14.29 30 0 0.00 SHARPIN 81858 genome.wustl.edu 37 8 145153884 145153884 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 145153884 145153884 C T SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.1061 p.C354Y 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 20 3 13.04 64 0 0.00 SHARPIN 81858 genome.wustl.edu 37 8 145154745 145154745 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 145154745 145154745 C G SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.520 p.E174Q 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 32 10 23.81 20 0 0.00 SHARPIN 81858 genome.wustl.edu 37 8 145158082 145158082 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145158082 145158082 C T SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.248 p.G83D 0.131 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 48 15 23.81 47 0 0.00 SHB 6461 genome.wustl.edu 37 9 37955983 37955983 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 37955983 37955983 G A SNP SHB ENST00000377707 human ensembl 70_37 -1 known missense c.1123 p.R375C 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 38 21 35.59 63 0 0.00 SHBG 6462 genome.wustl.edu 37 17 7533799 7533799 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 7533799 7533799 G C SNP SHBG ENST00000380450 human ensembl 70_37 +1 known missense c.177 p.M59I 0.951 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 15 4 20.00 20 0 0.00 SHBG 6462 genome.wustl.edu 37 17 7534569 7534569 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 7534569 7534569 G C SNP SHBG ENST00000380450 human ensembl 70_37 +1 known missense c.445 p.E149Q 0.929 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 14 4 22.22 13 0 0.00 SHC2 25759 genome.wustl.edu 37 19 422217 422217 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 422217 422217 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.1549 p.G517R 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 124 27 17.88 139 0 0.00 SHC2 25759 genome.wustl.edu 37 19 422299 422299 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 422299 422299 G A SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known silent c.1467 p.H489 0.972 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 10 32 76.19 101 0 0.00 SHC2 25759 genome.wustl.edu 37 19 434715 434715 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 434715 434715 G T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known silent c.1104 p.L368 0.988 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 47 29 38.16 41 0 0.00 SHC2 25759 genome.wustl.edu 37 19 438722 438722 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 438722 438722 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.716 p.R239H 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 45 10 18.18 111 0 0.00 SHC2 25759 genome.wustl.edu 37 19 438806 438806 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 438806 438806 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.632 p.G211D 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 152 34 18.18 175 0 0.00 SHC3 53358 genome.wustl.edu 37 9 91661881 91661881 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 91661881 91661881 C T SNP SHC3 ENST00000375835 human ensembl 70_37 -1 known missense c.991 p.E331K 0.993 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 24 6 20.00 61 0 0.00 SHCBP1 79801 genome.wustl.edu 37 16 46655178 46655178 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 46655178 46655178 G A SNP SHCBP1 ENST00000303383 human ensembl 70_37 -1 known silent c.94 p.L32 0.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 64 19 22.89 107 0 0.00 SHCBP1L 81626 genome.wustl.edu 37 1 182869349 182869349 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 182869349 182869349 C T SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known silent c.1731 p.L577 0.998 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 34 28 45.16 55 0 0.00 SHCBP1L 81626 genome.wustl.edu 37 1 182873370 182873370 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 182873370 182873370 C T SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.1532 p.C511Y 1.000 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 44 13 22.81 68 0 0.00 SHCBP1L 81626 genome.wustl.edu 37 1 182908672 182908672 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 182908672 182908672 G C SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.787 p.L263V 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 22 21 47.73 26 0 0.00 SHCBP1L 81626 genome.wustl.edu 37 1 182908672 182908672 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 182908672 182908672 G C SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.787 p.L263V 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 30 26 46.43 34 0 0.00 SHD 56961 genome.wustl.edu 37 19 4280112 4280112 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 4280112 4280112 C T SNP SHD ENST00000543264 human ensembl 70_37 +1 known missense c.52 p.P18S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 42 9 17.65 67 0 0.00 SHD 56961 genome.wustl.edu 37 19 4283076 4283076 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 4283076 4283076 C G SNP SHD ENST00000543264 human ensembl 70_37 +1 known silent c.429 p.L143 0.887 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 15 7 31.82 16 0 0.00 SHD 56961 genome.wustl.edu 37 19 4284538 4284538 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 4284538 4284538 C G SNP SHD ENST00000600475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SHD HGNC ENSG00000105251 7 4 36.36 8 0 0.00 SHE 126669 genome.wustl.edu 37 1 154459064 154459064 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154459064 154459064 C T SNP SHE ENST00000304760 human ensembl 70_37 -1 known missense c.1120 p.A374T 0.142 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 22 15 40.54 47 0 0.00 SHF 90525 genome.wustl.edu 37 15 45467558 45467558 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 45467558 45467558 C T SNP SHF ENST00000318390 human ensembl 70_37 -1 known missense c.682 p.E228K 0.997 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC ENSG00000138606 32 12 27.27 38 0 0.00 SHF 90525 genome.wustl.edu 37 15 45491047 45491047 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 45491047 45491047 G C SNP SHF ENST00000318390 human ensembl 70_37 -1 known missense c.397 p.Q133E 0.014 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC ENSG00000138606 12 23 65.71 51 0 0.00 SHH 6469 genome.wustl.edu 37 7 155604778 155604778 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 155604778 155604778 G C SNP SHH ENST00000297261 human ensembl 70_37 -1 known silent c.39 p.V13 1.000 pirsf_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog - no_errors SHH HGNC ENSG00000164690 31 26 45.61 42 0 0.00 SHISA2 387914 genome.wustl.edu 37 13 26621171 26621171 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 26621171 26621171 G A SNP SHISA2 ENST00000319420 human ensembl 70_37 -1 known missense c.368 p.S123F 1.000 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 25 15 36.59 33 0 0.00 SHISA4 149345 genome.wustl.edu 37 1 201859683 201859683 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201859683 201859683 G A SNP SHISA4 ENST00000362011 human ensembl 70_37 +1 known missense c.347 p.R116H 1.000 NULL NULL - no_errors SHISA4 HGNC ENSG00000198892 33 8 19.51 23 0 0.00 SHISA4 149345 genome.wustl.edu 37 1 201860929 201860929 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201860929 201860929 T C SNP SHISA4 ENST00000362011 human ensembl 70_37 +1 known silent c.549 p.A183 0.999 NULL NULL - no_errors SHISA4 HGNC ENSG00000198892 33 27 45.00 84 0 0.00 SHISA5 51246 genome.wustl.edu 37 3 48509961 48509961 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48509961 48509961 C G SNP SHISA5 ENST00000465449 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors SHISA5 HGNC ENSG00000164054 11 11 50.00 24 0 0.00 SHISA5 51246 genome.wustl.edu 37 3 48538599 48538599 + Silent SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 48538599 48538599 G A SNP SHISA5 ENST00000296444 human ensembl 70_37 -1 known silent c.204 p.S68 0.000 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 16 7 30.43 37 0 0.00 SHISA6 388336 genome.wustl.edu 37 17 11144958 11144958 + Silent SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 11144958 11144958 G A SNP SHISA6 ENST00000441885 human ensembl 70_37 +1 known silent c.219 p.R73 0.943 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 8 4 33.33 13 0 0.00 SHISA6 388336 genome.wustl.edu 37 17 11166735 11166735 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 11166735 11166735 G A SNP SHISA6 ENST00000441885 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 57 9 13.64 63 0 0.00 SHISA9 729993 genome.wustl.edu 37 16 13328988 13328988 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 13328988 13328988 C G SNP SHISA9 ENST00000558583 human ensembl 70_37 +1 known missense c.1120 p.P374A 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 43 21 32.81 49 0 0.00 SHKBP1 92799 genome.wustl.edu 37 19 41083465 41083465 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 41083465 41083465 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.17 p.S6F 1.000 NULL NULL - no_errors SHKBP1 HGNC ENSG00000160410 81 11 11.96 64 0 0.00 SHKBP1 92799 genome.wustl.edu 37 19 41083468 41083468 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 41083468 41083468 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.20 p.S7L 1.000 NULL NULL - no_errors SHKBP1 HGNC ENSG00000160410 255 150 37.04 416 1 0.24 SHKBP1 92799 genome.wustl.edu 37 19 41083468 41083468 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 41083468 41083468 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.20 p.S7L 1.000 NULL NULL - no_errors SHKBP1 HGNC ENSG00000160410 44 23 34.33 39 0 0.00 SHKBP1 92799 genome.wustl.edu 37 19 41094630 41094630 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 41094630 41094630 C G SNP SHKBP1 ENST00000291842 human ensembl 70_37 +1 known missense c.1437 p.I479M 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 27 16 37.21 40 0 0.00 SHKBP1 92799 genome.wustl.edu 37 19 41096211 41096211 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 41096211 41096211 G A SNP SHKBP1 ENST00000291842 human ensembl 70_37 +1 known missense c.1651 p.E551K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 41 10 19.61 54 0 0.00 SHMT1 6470 genome.wustl.edu 37 17 18232688 18232688 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18232688 18232688 G C SNP SHMT1 ENST00000316694 human ensembl 70_37 -1 known missense c.1186 p.L396V 0.531 pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 50 15 22.73 67 0 0.00 SHMT1 6470 genome.wustl.edu 37 17 18250855 18250855 + Nonsense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 18250855 18250855 C A SNP SHMT1 ENST00000580002 human ensembl 70_37 -1 known nonsense c.358 p.E120* 1.000 pfscan_Josephin pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pfscan_Josephin - no_errors SHMT1 HGNC ENSG00000176974 13 3 18.75 25 0 0.00 SHMT2 6472 genome.wustl.edu 37 12 57625512 57625512 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57625512 57625512 G C SNP SHMT2 ENST00000328923 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 32 9 21.95 36 0 0.00 SHMT2 6472 genome.wustl.edu 37 12 57628084 57628084 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 57628084 57628084 C G SNP SHMT2 ENST00000328923 human ensembl 70_37 +1 known silent c.1455 p.L485 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 32 4 11.11 37 0 0.00 SHOC2 8036 genome.wustl.edu 37 10 112679831 112679831 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 10 112679831 112679831 G T SNP SHOC2 ENST00000489783 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SHOC2 HGNC ENSG00000108061 23 16 41.03 20 0 0.00 SHOC2 8036 genome.wustl.edu 37 10 112724609 112724609 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 112724609 112724609 C T SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known missense c.493 p.L165F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 13 14 51.85 40 0 0.00 SHOC2 8036 genome.wustl.edu 37 10 112724639 112724639 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 112724639 112724639 G A SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known missense c.523 p.D175N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 27 9 25.00 56 0 0.00 SHOC2 8036 genome.wustl.edu 37 10 112724698 112724698 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 112724698 112724698 C T SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known silent c.582 p.L194 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 28 16 36.36 48 0 0.00 SHOC2 8036 genome.wustl.edu 37 10 112771399 112771399 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 112771399 112771399 G A SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known silent c.1572 p.L524 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 20 7 25.93 38 0 0.00 SHOX 6473 genome.wustl.edu 37 X 595405 595405 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 595405 595405 C T SNP SHOX ENST00000381578 human ensembl 70_37 +1 known silent c.330 p.D110 1.000 superfamily_Homeodomain-like pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 64 27 29.67 170 0 0.00 SHOX2 6474 genome.wustl.edu 37 3 157815852 157815852 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 157815852 157815852 C G SNP SHOX2 ENST00000425436 human ensembl 70_37 -1 known silent c.1032 p.L344 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 62 69 52.67 94 0 0.00 SHPK 23729 genome.wustl.edu 37 17 3539499 3539499 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 3539499 3539499 C T SNP SHPK ENST00000225519 human ensembl 70_37 -1 known silent c.15 p.P5 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors SHPK HGNC ENSG00000197417 57 8 12.31 60 0 0.00 SHPRH 257218 genome.wustl.edu 37 6 146256116 146256116 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 146256116 146256116 G A SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.2917 p.P973S 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 57 20 25.97 108 0 0.00 SHPRH 257218 genome.wustl.edu 37 6 146264850 146264850 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 146264850 146264850 G A SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.1667 p.S556F 0.997 smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 33 33 50.00 64 0 0.00 SHPRH 257218 genome.wustl.edu 37 6 146275945 146275945 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 146275945 146275945 C T SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.514 p.D172N 0.492 NULL pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 10 10 50.00 33 0 0.00 SHQ1 55164 genome.wustl.edu 37 3 72890222 72890222 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 72890222 72890222 G A SNP SHQ1 ENST00000325599 human ensembl 70_37 -1 known nonsense c.460 p.R154* 0.007 NULL pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors SHQ1 HGNC ENSG00000144736 22 13 37.14 18 0 0.00 SHROOM1 134549 genome.wustl.edu 37 5 132159474 132159474 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 132159474 132159474 G A SNP SHROOM1 ENST00000488072 human ensembl 70_37 -1 putative rna NULL NULL 0.028 - - - no_errors SHROOM1 HGNC ENSG00000164403 48 7 12.73 86 0 0.00 SHROOM1 134549 genome.wustl.edu 37 5 132159867 132159867 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 132159867 132159867 C T SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known missense c.1486 p.E496K 0.141 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 42 19 31.15 73 0 0.00 SHROOM1 134549 genome.wustl.edu 37 5 132161042 132161042 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 132161042 132161042 G A SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known missense c.791 p.A264V 0.000 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 38 14 26.92 61 0 0.00 SHROOM1 134549 genome.wustl.edu 37 5 132161162 132161162 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 132161162 132161162 G C SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known nonsense c.671 p.S224* 0.977 pfam_ASD1 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 15 5 25.00 16 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9864180 9864180 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 9864180 9864180 C T SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known silent c.2232 p.H744 0.002 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 45 25 35.71 77 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9864427 9864427 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 9864427 9864427 G A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2479 p.E827K 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 79 30 27.52 97 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9864525 9864525 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 9864525 9864525 G T SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2577 p.E859D 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 36 22 37.93 70 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9864526 9864526 + Missense_Mutation SNP A A G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 9864526 9864526 A G SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2578 p.K860E 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 36 22 37.93 69 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9900723 9900723 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 9900723 9900723 C A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.3400 p.R1134S 0.615 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 104 14 11.76 116 0 0.00 SHROOM2 357 genome.wustl.edu 37 X 9914963 9914963 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 9914963 9914963 G A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.4837 p.E1613K 0.939 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 18 7 28.00 14 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77476820 77476820 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 77476820 77476820 T C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.227 p.V76A 0.988 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 52 17 24.64 95 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77476856 77476856 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 77476856 77476856 G C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.263 p.R88T 0.882 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 50 9 15.25 52 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77659914 77659914 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 77659914 77659914 C A SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.588 p.S196R 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 24 4 14.29 34 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77660882 77660882 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77660882 77660882 A C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.1556 p.N519T 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 15 7 31.82 37 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77661028 77661028 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 77661028 77661028 G C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.1702 p.D568H 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 10 6 37.50 24 0 0.00 SHROOM3 57619 genome.wustl.edu 37 4 77677800 77677800 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 77677800 77677800 G A SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known silent c.4908 p.Q1636 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 113 30 20.98 131 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50341494 50341494 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 50341494 50341494 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known silent c.3984 p.L1328 1.000 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 48 10 17.24 33 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50345650 50345650 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50345650 50345650 C A SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known nonsense c.3925 p.E1309* 0.998 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 20 12 37.50 61 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50350419 50350419 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50350419 50350419 A C SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known silent c.3723 p.L1241 0.985 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 34 27 43.55 83 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50350549 50350549 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 50350549 50350549 G A SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.3593 p.S1198L 0.002 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 111 41 26.97 116 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50351126 50351126 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 50351126 50351126 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.3016 p.E1006K 0.994 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 41 6 12.77 37 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50377022 50377022 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 50377022 50377022 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.2051 p.R684Q 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 46 10 17.86 53 0 0.00 SHROOM4 57477 genome.wustl.edu 37 X 50378576 50378576 + Missense_Mutation SNP C C A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 X 50378576 50378576 C A SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.497 p.G166V 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 74 12 13.95 68 0 0.00 SI 6476 genome.wustl.edu 37 3 164697172 164697172 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 164697172 164697172 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5462 p.P1821Q 0.948 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 161 37 18.69 136 0 0.00 SI 6476 genome.wustl.edu 37 3 164700155 164700155 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 164700155 164700155 T A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5291 p.K1764I 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 49 23 31.94 41 0 0.00 SI 6476 genome.wustl.edu 37 3 164700184 164700184 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 164700184 164700184 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5262 p.S1754R 0.964 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 26 4 13.33 62 0 0.00 SI 6476 genome.wustl.edu 37 3 164709259 164709259 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 164709259 164709259 C G SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.4990 p.D1664H 0.827 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 52 12 18.75 54 0 0.00 SI 6476 genome.wustl.edu 37 3 164710130 164710130 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 164710130 164710130 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.4897 p.A1633T 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 141 40 21.86 162 0 0.00 SI 6476 genome.wustl.edu 37 3 164714322 164714322 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 164714322 164714322 C A SNP SI ENST00000264382 human ensembl 70_37 -1 known splice_site c.4692+1 e39+1 0.991 - - - no_errors SI HGNC ENSG00000090402 5 8 61.54 37 0 0.00 SI 6476 genome.wustl.edu 37 3 164732962 164732962 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 164732962 164732962 C A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.3948 p.Q1316H 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 18 11 37.93 49 0 0.00 SI 6476 genome.wustl.edu 37 3 164735793 164735793 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 164735793 164735793 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.3485 p.A1162D 1.000 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 24 3 11.11 59 0 0.00 SI 6476 genome.wustl.edu 37 3 164741481 164741481 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 164741481 164741481 G A SNP SI ENST00000264382 human ensembl 70_37 -1 known silent c.2976 p.S992 0.015 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 34 4 10.53 48 0 0.00 SI 6476 genome.wustl.edu 37 3 164750342 164750342 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 164750342 164750342 G C SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.2704 p.H902D 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 41 16 28.07 51 0 0.00 SI 6476 genome.wustl.edu 37 3 164757752 164757752 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 164757752 164757752 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.2167 p.E723K 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 19 6 24.00 38 0 0.00 SI 6476 genome.wustl.edu 37 3 164764781 164764781 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 164764781 164764781 G A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.1735 p.P579S 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 27 4 12.90 13 0 0.00 SI 6476 genome.wustl.edu 37 3 164780194 164780194 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 164780194 164780194 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_Glyco_hydro_31,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 114 32 21.92 66 0 0.00 SIAH3 283514 genome.wustl.edu 37 13 46357699 46357699 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 46357699 46357699 C T SNP SIAH3 ENST00000400405 human ensembl 70_37 -1 known missense c.629 p.R210Q 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 25 10 28.57 30 0 0.00 SIDT1 54847 genome.wustl.edu 37 3 113345005 113345005 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 113345005 113345005 C T SNP SIDT1 ENST00000393830 human ensembl 70_37 +1 known silent c.2379 p.F793 0.999 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 67 31 31.63 117 0 0.00 SIDT1 54847 genome.wustl.edu 37 3 113345005 113345005 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113345005 113345005 C T SNP SIDT1 ENST00000393830 human ensembl 70_37 +1 known silent c.2379 p.F793 0.999 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 45 29 38.67 99 0 0.00 SIDT2 51092 genome.wustl.edu 37 11 117050146 117050146 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 117050146 117050146 C T SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.167 p.T56I 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 43 16 27.12 41 0 0.00 SIDT2 51092 genome.wustl.edu 37 11 117053326 117053326 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 117053326 117053326 A C SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.608 p.Q203P 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 59 28 32.18 115 0 0.00 SIDT2 51092 genome.wustl.edu 37 11 117054546 117054546 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 117054546 117054546 G A SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.754 p.E252K 0.999 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 42 12 22.22 34 0 0.00 SIDT2 51092 genome.wustl.edu 37 11 117063944 117063944 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 117063944 117063944 C T SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known silent c.2244 p.L748 0.820 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 69 8 10.39 59 0 0.00 SIGIRR 59307 genome.wustl.edu 37 11 405938 405938 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 405938 405938 G A SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.1480 p.P494S 0.920 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC ENSG00000185187 32 11 25.58 44 0 0.00 SIGIRR 59307 genome.wustl.edu 37 11 406528 406528 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 406528 406528 G A SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.890 p.S297F 0.998 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC ENSG00000185187 61 19 23.75 108 0 0.00 SIGIRR 59307 genome.wustl.edu 37 11 408113 408113 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 408113 408113 G C SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.300 p.I100M 0.003 pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC ENSG00000185187 202 60 22.90 239 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3677876 3677876 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 3677876 3677876 G A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known nonsense c.2236 p.R746* 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 55 7 11.29 50 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3677954 3677954 + Nonsense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 3677954 3677954 G A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known nonsense c.2158 p.Q720* 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 20 14 40.00 31 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3682139 3682139 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 3682139 3682139 C A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.1378 p.D460Y 0.018 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 63 17 21.25 56 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3684082 3684082 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 3684082 3684082 C T SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known silent c.990 p.V330 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 42 16 27.59 68 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3684498 3684498 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3684498 3684498 G A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.947 p.S316L 0.035 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 72 11 13.25 65 0 0.00 SIGLEC1 6614 genome.wustl.edu 37 20 3686628 3686628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 3686628 3686628 C T SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.469 p.D157N 0.016 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 142 38 21.11 175 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51914460 51914460 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 51914460 51914460 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.201 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 142 23 13.94 149 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51917047 51917047 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 51917047 51917047 C T SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known silent c.1740 p.Q580 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 68 14 17.07 64 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51918103 51918103 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 51918103 51918103 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1590 p.Q530H 0.637 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 190 27 12.44 140 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51918103 51918103 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 51918103 51918103 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1590 p.Q530H 0.637 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 55 10 15.38 26 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51918168 51918168 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 51918168 51918168 G T SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1525 p.L509I 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 49 26 34.67 69 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51918459 51918459 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 19 51918459 51918459 C T SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1306 p.V436I 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 84 39 31.45 95 0 0.00 SIGLEC10 89790 genome.wustl.edu 37 19 51920033 51920033 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 51920033 51920033 G A SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.593 p.S198L 0.168 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 36 9 20.00 47 0 0.00 SIGLEC11 114132 genome.wustl.edu 37 19 50453275 50453275 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50453275 50453275 G A SNP SIGLEC11 ENST00000447370 human ensembl 70_37 -1 known silent c.2049 p.G683 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC ENSG00000161640 18 8 30.77 37 0 0.00 SIGLEC11 114132 genome.wustl.edu 37 19 50462671 50462671 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 50462671 50462671 G C SNP SIGLEC11 ENST00000447370 human ensembl 70_37 -1 known missense c.1003 p.R335G 0.974 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC ENSG00000161640 97 11 10.00 62 0 0.00 SIGLEC11 114132 genome.wustl.edu 37 19 50464184 50464184 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 19 50464184 50464184 T C SNP SIGLEC11 ENST00000447370 human ensembl 70_37 -1 known missense c.85 p.N29D 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC ENSG00000161640 12 6 33.33 9 0 0.00 SIGLEC12 89858 genome.wustl.edu 37 19 52001271 52001271 + Splice_Site SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52001271 52001271 C A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known splice_site c.1405+1 e5+1 0.001 - - - no_errors SIGLEC12 HGNC ENSG00000254521 74 24 24.49 66 0 0.00 SIGLEC12 89858 genome.wustl.edu 37 19 52001468 52001468 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 52001468 52001468 G A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.1209 p.V403 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC ENSG00000254521 68 32 32.00 57 0 0.00 SIGLEC12 89858 genome.wustl.edu 37 19 52002702 52002702 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 52002702 52002702 G A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.1077 p.L359 0.061 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC ENSG00000254521 37 15 28.85 43 0 0.00 SIGLEC12 89858 genome.wustl.edu 37 19 52002798 52002798 + Silent SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 52002798 52002798 G C SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.981 p.L327 0.007 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC ENSG00000254521 30 26 46.43 68 0 0.00 SIGLEC12 89858 genome.wustl.edu 37 19 52003582 52003582 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52003582 52003582 C A SNP SIGLEC12 ENST00000598614 human ensembl 70_37 -1 putative missense c.46 p.G16C 0.005 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC ENSG00000254521 44 8 15.38 38 0 0.00 SIGLEC14 100049587 genome.wustl.edu 37 19 52149138 52149138 + Silent SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 52149138 52149138 G T SNP SIGLEC14 ENST00000360844 human ensembl 70_37 -1 known silent c.597 p.T199 0.011 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC14 HGNC ENSG00000254415 31 5 13.89 45 0 0.00 SIGLEC14 100049587 genome.wustl.edu 37 19 52149143 52149143 + Missense_Mutation SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 52149143 52149143 G T SNP SIGLEC14 ENST00000360844 human ensembl 70_37 -1 known missense c.592 p.L198I 0.001 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC14 HGNC ENSG00000254415 44 23 34.33 48 0 0.00 SIGLEC16 400709 genome.wustl.edu 37 19 50475333 50475333 + RNA SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 50475333 50475333 C T SNP SIGLEC16 ENST00000602139 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 25 20 44.44 64 0 0.00 SIGLEC17P 284367 genome.wustl.edu 37 19 51670960 51670960 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51670960 51670960 C G SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 30 17 36.17 45 0 0.00 SIGLEC17P 284367 genome.wustl.edu 37 19 51671001 51671001 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 51671001 51671001 C T SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 31 8 20.00 36 0 0.00 SIGLEC17P 284367 genome.wustl.edu 37 19 51671124 51671124 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51671124 51671124 C G SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 39 21 35.00 40 0 0.00 SIGLEC17P 284367 genome.wustl.edu 37 19 51671575 51671575 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51671575 51671575 C T SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.079 - - - no_errors SIGLEC17P HGNC ENSG00000171101 25 17 40.48 55 0 0.00 SIGLEC22P 114195 genome.wustl.edu 37 19 51715073 51715073 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51715073 51715073 C T SNP SIGLEC22P ENST00000602065 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC22P HGNC ENSG00000268849 34 25 42.37 36 0 0.00 SIGLEC5 8778 genome.wustl.edu 37 19 52115563 52115563 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52115563 52115563 G C SNP SIGLEC5 ENST00000222107 human ensembl 70_37 -1 known missense c.1577 p.S526C 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 23 14 37.84 42 0 0.00 SIGLEC5 8778 genome.wustl.edu 37 19 52115604 52115604 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 52115604 52115604 C T SNP SIGLEC5 ENST00000222107 human ensembl 70_37 -1 known silent c.1536 p.L512 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 15 12 44.44 28 0 0.00 SIGLEC6 946 genome.wustl.edu 37 19 52033111 52033111 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 52033111 52033111 C G SNP SIGLEC6 ENST00000425629 human ensembl 70_37 -1 known silent c.879 p.L293 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 47 17 26.15 41 0 0.00 SIGLEC6 946 genome.wustl.edu 37 19 52034738 52034738 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 52034738 52034738 C T SNP SIGLEC6 ENST00000425629 human ensembl 70_37 -1 known missense c.103 p.G35R 0.000 pfam_Ig_V-set pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 58 9 13.24 63 0 0.00 SIGLEC7 27036 genome.wustl.edu 37 19 51645837 51645837 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 51645837 51645837 G C SNP SIGLEC7 ENST00000317643 human ensembl 70_37 +1 known missense c.211 p.D71H 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 55 29 34.52 61 0 0.00 SIGLEC8 27181 genome.wustl.edu 37 19 51957937 51957937 + Splice_Site SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 51957937 51957937 C T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known splice_site c.1148+1 e5+1 0.177 - - - no_errors SIGLEC8 HGNC ENSG00000105366 68 10 12.82 47 0 0.00 SIGLEC8 27181 genome.wustl.edu 37 19 51958774 51958774 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51958774 51958774 G A SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known nonsense c.949 p.R317* 0.000 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 33 7 17.50 38 0 0.00 SIGLEC8 27181 genome.wustl.edu 37 19 51960463 51960463 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51960463 51960463 C T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known missense c.756 p.M252I 0.000 pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 55 16 22.54 58 0 0.00 SIGLEC8 27181 genome.wustl.edu 37 19 51961226 51961226 + Nonsense_Mutation SNP A A T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 51961226 51961226 A T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known nonsense c.416 p.L139* 0.001 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 45 22 32.84 109 0 0.00 SIGLEC8 27181 genome.wustl.edu 37 19 51961392 51961392 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 51961392 51961392 G T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known missense c.250 p.P84T 0.185 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 59 54 47.79 76 0 0.00 SIGLEC9 27180 genome.wustl.edu 37 19 51631765 51631765 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51631765 51631765 C T SNP SIGLEC9 ENST00000440804 human ensembl 70_37 +1 known nonsense c.1201 p.Q401* 0.106 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 53 8 12.90 62 0 0.00 SIGLECL1 284369 genome.wustl.edu 37 19 51767223 51767223 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 51767223 51767223 C T SNP SIGLECL1 ENST00000593968 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SIGLECL1 HGNC ENSG00000179213 52 11 17.46 57 0 0.00 SIGLECL1 284369 genome.wustl.edu 37 19 51769113 51769113 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51769113 51769113 C T SNP SIGLECL1 ENST00000316401 human ensembl 70_37 +1 known silent c.387 p.L129 0.498 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 40 28 41.18 74 0 0.00 SIGLECL1 284369 genome.wustl.edu 37 19 51769119 51769119 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51769119 51769119 C T SNP SIGLECL1 ENST00000316401 human ensembl 70_37 +1 known silent c.393 p.L131 0.990 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 36 27 42.86 70 0 0.00 SIGMAR1 10280 genome.wustl.edu 37 9 34636875 34636875 + RNA SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 9 34636875 34636875 G T SNP SIGMAR1 ENST00000478146 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SIGMAR1 HGNC ENSG00000147955 32 4 11.11 43 0 0.00 SIGMAR1 10280 genome.wustl.edu 37 9 34637231 34637231 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 34637231 34637231 G C SNP SIGMAR1 ENST00000277010 human ensembl 70_37 -1 known missense c.338 p.S113C 1.000 pfam_ERG2_sigma1_rcpt-like pfam_ERG2_sigma1_rcpt-like - no_errors SIGMAR1 HGNC ENSG00000147955 5 4 44.44 14 0 0.00 SIK1 150094 genome.wustl.edu 37 21 44839823 44839823 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 44839823 44839823 G C SNP SIK1 ENST00000270162 human ensembl 70_37 -1 known silent c.1035 p.L345 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 47 6 11.32 20 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111487074 111487074 + Missense_Mutation SNP A A T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 111487074 111487074 A T SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.243 p.K81N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 45 35 43.75 57 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111571629 111571629 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 11 111571629 111571629 C G SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.498 p.F166L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 58 34 36.56 104 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111572232 111572232 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 111572232 111572232 G A SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known silent c.660 p.P220 0.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 229 32 12.26 297 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111573944 111573944 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111573944 111573944 C T SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known nonsense c.745 p.R249* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 41 16 28.07 40 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111591721 111591721 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 111591721 111591721 G A SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.1879 p.E627K 0.986 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 129 35 21.34 148 0 0.00 SIK2 23235 genome.wustl.edu 37 11 111594257 111594257 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111594257 111594257 C G SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.2185 p.Q729E 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 45 15 25.00 45 0 0.00 SIK3 23387 genome.wustl.edu 37 11 116728696 116728696 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 116728696 116728696 G C SNP SIK3 ENST00000375300 human ensembl 70_37 -1 known nonsense c.3341 p.S1114* 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC ENSG00000160584 26 28 51.85 103 1 0.96 SIL1 64374 genome.wustl.edu 37 5 138282845 138282845 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138282845 138282845 C G SNP SIL1 ENST00000265195 human ensembl 70_37 -1 known silent c.1347 p.L449 1.000 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 54 33 37.93 121 0 0.00 SIL1 64374 genome.wustl.edu 37 5 138463538 138463538 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 138463538 138463538 G C SNP SIL1 ENST00000509534 human ensembl 70_37 -1 putative missense c.19 p.L7V 0.001 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 43 8 15.69 50 0 0.00 SIM1 6492 genome.wustl.edu 37 6 100896461 100896461 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 6 100896461 100896461 C T SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.637 p.V213M 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC ENSG00000112246 50 27 35.06 89 0 0.00 SIM1 6492 genome.wustl.edu 37 6 100896461 100896461 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 100896461 100896461 C T SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.637 p.V213M 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC ENSG00000112246 40 31 43.66 49 0 0.00 SIM1 6492 genome.wustl.edu 37 6 100911253 100911253 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 100911253 100911253 G A SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.92 p.S31L 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC ENSG00000112246 52 41 44.09 57 0 0.00 SIM2 6493 genome.wustl.edu 37 21 38081692 38081692 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38081692 38081692 C A SNP SIM2 ENST00000460783 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIM2 HGNC ENSG00000159263 15 13 46.43 15 0 0.00 SIM2 6493 genome.wustl.edu 37 21 38115793 38115793 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 38115793 38115793 A C SNP SIM2 ENST00000290399 human ensembl 70_37 +1 known missense c.1104 p.K368N 0.023 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM2 HGNC ENSG00000159263 19 3 13.64 32 0 0.00 SIM2 6493 genome.wustl.edu 37 21 38117369 38117369 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 38117369 38117369 C A SNP SIM2 ENST00000290399 human ensembl 70_37 +1 known missense c.1508 p.S503Y 0.725 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM2 HGNC ENSG00000159263 29 13 30.95 35 0 0.00 SIMC1 375484 genome.wustl.edu 37 5 175763857 175763857 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 175763857 175763857 C T SNP SIMC1 ENST00000443967 human ensembl 70_37 +1 known missense c.2249 p.S750F 0.990 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 19 11 35.48 38 0 0.00 SIMC1 375484 genome.wustl.edu 37 5 175772332 175772332 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 175772332 175772332 G A SNP SIMC1 ENST00000443967 human ensembl 70_37 +1 known missense c.2503 p.E835K 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 26 17 39.53 31 0 0.00 SIN3A 25942 genome.wustl.edu 37 15 75682011 75682011 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 75682011 75682011 G A SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known silent c.3003 p.I1001 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 56 13 18.84 35 0 0.00 SIN3A 25942 genome.wustl.edu 37 15 75692404 75692404 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75692404 75692404 G C SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.1831 p.R611G 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 156 37 19.17 216 0 0.00 SIN3A 25942 genome.wustl.edu 37 15 75693150 75693150 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 75693150 75693150 C T SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.1658 p.R553Q 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 35 15 30.00 85 0 0.00 SIN3A 25942 genome.wustl.edu 37 15 75705130 75705130 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 75705130 75705130 G C SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.730 p.Q244E 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 37 15 28.85 51 0 0.00 SIN3B 23309 genome.wustl.edu 37 19 16977349 16977349 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16977349 16977349 C T SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known silent c.1884 p.I628 0.781 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 6 7 53.85 26 0 0.00 SIN3B 23309 genome.wustl.edu 37 19 16986961 16986961 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 16986961 16986961 C T SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known silent c.2784 p.S928 0.950 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 120 52 30.06 105 0 0.00 SIN3B 23309 genome.wustl.edu 37 19 16988416 16988416 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16988416 16988416 G A SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known missense c.3016 p.E1006K 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 34 15 30.61 38 0 0.00 SIN3B 23309 genome.wustl.edu 37 19 16989122 16989122 + Missense_Mutation SNP T T C TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 19 16989122 16989122 T C SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known missense c.3179 p.L1060P 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 20 4 16.67 24 0 0.00 SIPA1 6494 genome.wustl.edu 37 11 65409788 65409788 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65409788 65409788 G A SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known silent c.747 p.E249 1.000 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC ENSG00000213445 54 12 18.18 67 0 0.00 SIPA1 6494 genome.wustl.edu 37 11 65409844 65409844 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 65409844 65409844 C T SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known missense c.803 p.T268M 0.855 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC ENSG00000213445 64 55 46.22 78 0 0.00 SIPA1 6494 genome.wustl.edu 37 11 65417036 65417036 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 65417036 65417036 C G SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known missense c.2530 p.L844V 0.999 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC ENSG00000213445 127 46 26.59 175 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72054767 72054767 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 72054767 72054767 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.178 p.E60K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 22 18 45.00 33 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72054863 72054863 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 72054863 72054863 G T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known nonsense c.274 p.E92* 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 8 8 50.00 19 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72055659 72055659 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 72055659 72055659 G C SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.1070 p.R357T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 77 14 15.38 106 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72090905 72090905 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 72090905 72090905 C T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.1770 p.F590 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 37 19 33.93 22 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72128168 72128168 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 72128168 72128168 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.2239 p.D747N 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 38 9 19.15 103 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72169169 72169169 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 72169169 72169169 G C SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.3593 p.G1198A 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 40 15 27.27 31 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72176352 72176352 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 72176352 72176352 C T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.4242 p.F1414 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 34 10 22.73 57 0 0.00 SIPA1L1 26037 genome.wustl.edu 37 14 72196849 72196849 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 72196849 72196849 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.4755 p.S1585 0.781 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 51 44 46.32 66 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232534989 232534989 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 232534989 232534989 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.5053 p.E1685K 0.913 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 41 26 38.81 68 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232538176 232538176 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 232538176 232538176 C G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.4984 p.E1662Q 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 19 15 44.12 46 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232581533 232581533 + Splice_Site SNP C C G TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 1 232581533 232581533 C G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known splice_site c.3096-1 e9-1 1.000 - - - no_errors SIPA1L2 HGNC ENSG00000116991 69 8 10.39 61 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232600674 232600674 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 232600674 232600674 T C SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.2732 p.K911R 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 17 13 43.33 30 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232600891 232600891 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 232600891 232600891 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.2515 p.E839K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 57 7 10.94 48 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232626797 232626797 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 232626797 232626797 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known silent c.1629 p.L543 0.990 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 21 27 56.25 31 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232626797 232626797 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 232626797 232626797 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known silent c.1629 p.L543 0.990 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 31 30 48.39 46 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232650310 232650310 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 232650310 232650310 G A SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 90 24 21.05 151 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232650405 232650405 + Silent SNP A A G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 232650405 232650405 A G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known silent c.681 p.P227 0.032 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 24 4 14.29 25 0 0.00 SIPA1L2 57568 genome.wustl.edu 37 1 232650491 232650491 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 232650491 232650491 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.595 p.D199N 0.999 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 13 11 45.83 32 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38572047 38572047 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 38572047 38572047 G A SNP SIPA1L3 ENST00000476317 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SIPA1L3 HGNC ENSG00000105738 27 8 22.86 42 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38572484 38572484 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 38572484 38572484 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.279 p.L93 0.995 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 51 29 36.25 46 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38579389 38579389 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 38579389 38579389 G C SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.1563 p.E521D 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 17 13 43.33 29 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38610012 38610012 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38610012 38610012 C T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.2358 p.F786 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 43 15 25.86 76 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38610312 38610312 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38610312 38610312 C T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.2658 p.I886 0.660 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 43 27 38.57 120 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38655260 38655260 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 19 38655260 38655260 G T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.3922 p.D1308Y 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 85 33 27.97 89 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38684202 38684202 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38684202 38684202 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.4622 p.R1541Q 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 18 5 21.74 20 0 0.00 SIPA1L3 23094 genome.wustl.edu 37 19 38684216 38684216 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38684216 38684216 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.4636 p.E1546K 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 14 5 26.32 15 0 0.00 SIRPA 140885 genome.wustl.edu 37 20 1896052 1896052 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 20 1896052 1896052 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known silent c.387 p.P129 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC ENSG00000198053 69 8 10.39 76 0 0.00 SIRPA 140885 genome.wustl.edu 37 20 1902137 1902137 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 1902137 1902137 G C SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known missense c.533 p.R178T 0.995 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC ENSG00000198053 103 72 40.68 140 0 0.00 SIRPA 140885 genome.wustl.edu 37 20 1902277 1902277 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 1902277 1902277 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known nonsense c.673 p.Q225* 0.437 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC ENSG00000198053 92 23 20.00 113 0 0.00 SIRPA 140885 genome.wustl.edu 37 20 1915398 1915398 + Nonsense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 1915398 1915398 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known nonsense c.1264 p.Q422* 1.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC ENSG00000198053 57 22 27.85 63 0 0.00 SIRPA 140885 genome.wustl.edu 37 20 1918151 1918151 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 1918151 1918151 G A SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known silent c.1464 p.Q488 0.015 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC ENSG00000198053 31 5 13.89 38 0 0.00 SIRPB1 10326 genome.wustl.edu 37 20 1559191 1559191 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 1559191 1559191 C T SNP SIRPB1 ENST00000381605 human ensembl 70_37 -1 known missense c.226 p.E76K 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 83 49 37.12 133 0 0.00 SIRPD 128646 genome.wustl.edu 37 20 1532404 1532404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 1532404 1532404 C T SNP SIRPD ENST00000381621 human ensembl 70_37 -1 known silent c.354 p.V118 0.996 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIRPD HGNC ENSG00000125900 62 32 34.04 66 0 0.00 SIRPD 128646 genome.wustl.edu 37 20 1532442 1532442 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 1532442 1532442 C T SNP SIRPD ENST00000381621 human ensembl 70_37 -1 known missense c.316 p.E106K 0.003 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIRPD HGNC ENSG00000125900 76 33 30.28 76 0 0.00 SIRPG 55423 genome.wustl.edu 37 20 1615977 1615977 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 1615977 1615977 G A SNP SIRPG ENST00000303415 human ensembl 70_37 -1 known silent c.1017 p.V339 0.022 smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPG HGNC ENSG00000089012 62 28 31.11 74 0 0.00 SIRT1 23411 genome.wustl.edu 37 10 69648778 69648778 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 69648778 69648778 C G SNP SIRT1 ENST00000212015 human ensembl 70_37 +1 known nonsense c.686 p.S229* 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 37 6 13.95 31 0 0.00 SIRT1 23411 genome.wustl.edu 37 10 69672357 69672357 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 69672357 69672357 G A SNP SIRT1 ENST00000212015 human ensembl 70_37 +1 known missense c.1484 p.G495D 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 29 4 12.12 39 0 0.00 SIRT2 22933 genome.wustl.edu 37 19 39370308 39370308 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 39370308 39370308 C T SNP SIRT2 ENST00000249396 human ensembl 70_37 -1 known missense c.911 p.G304E 1.000 pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 32 6 15.79 41 0 0.00 SIRT4 23409 genome.wustl.edu 37 12 120741408 120741408 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 120741408 120741408 G A SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.44 p.R15H 0.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 31 13 29.55 33 0 0.00 SIRT4 23409 genome.wustl.edu 37 12 120750316 120750316 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120750316 120750316 C G SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.555 p.F185L 0.015 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 30 12 28.57 45 0 0.00 SIRT4 23409 genome.wustl.edu 37 12 120750384 120750384 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120750384 120750384 C T SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.623 p.S208L 0.995 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 46 6 11.54 45 0 0.00 SIRT4 23409 genome.wustl.edu 37 12 120750454 120750454 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 120750454 120750454 C G SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known silent c.693 p.V231 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 78 23 22.77 73 0 0.00 SIRT4 23409 genome.wustl.edu 37 12 120751013 120751013 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 120751013 120751013 C G SNP SIRT4 ENST00000537892 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIRT4 HGNC ENSG00000089163 7 6 46.15 10 0 0.00 SIRT5 23408 genome.wustl.edu 37 6 13595753 13595753 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 13595753 13595753 G C SNP SIRT5 ENST00000379250 human ensembl 70_37 +1 known missense c.520 p.E174Q 0.988 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 26 5 16.13 38 0 0.00 SIRT5 23408 genome.wustl.edu 37 6 13601168 13601168 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 13601168 13601168 A G SNP SIRT5 ENST00000379250 human ensembl 70_37 +1 known missense c.844 p.T282A 0.998 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 27 14 34.15 78 0 0.00 SIRT6 51548 genome.wustl.edu 37 19 4174895 4174895 + Missense_Mutation SNP T T G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 4174895 4174895 T G SNP SIRT6 ENST00000337491 human ensembl 70_37 -1 known missense c.787 p.T263P 0.474 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 13 9 40.91 39 0 0.00 SIRT6 51548 genome.wustl.edu 37 19 4174895 4174895 + Missense_Mutation SNP T T G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 4174895 4174895 T G SNP SIRT6 ENST00000337491 human ensembl 70_37 -1 known missense c.787 p.T263P 0.474 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 3 17 85.00 22 0 0.00 SIRT7 51547 genome.wustl.edu 37 17 79870304 79870304 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 79870304 79870304 C G SNP SIRT7 ENST00000328666 human ensembl 70_37 -1 known missense c.1191 p.K397N 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT7 HGNC ENSG00000187531 36 15 29.41 48 0 0.00 SIT1 27240 genome.wustl.edu 37 9 35649944 35649944 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 35649944 35649944 G C SNP SIT1 ENST00000259608 human ensembl 70_37 -1 known silent c.492 p.P164 0.000 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 90 10 10.00 124 0 0.00 SIX3 6496 genome.wustl.edu 37 2 45169636 45169636 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 45169636 45169636 C T SNP SIX3 ENST00000260653 human ensembl 70_37 +1 known silent c.393 p.I131 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC ENSG00000138083 12 7 36.84 26 0 0.00 SIX3 6496 genome.wustl.edu 37 2 45169642 45169642 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 45169642 45169642 C A SNP SIX3 ENST00000260653 human ensembl 70_37 +1 known silent c.399 p.R133 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC ENSG00000138083 29 4 12.12 27 0 0.00 SIX4 51804 genome.wustl.edu 37 14 61190355 61190355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 61190355 61190355 C G SNP SIX4 ENST00000216513 human ensembl 70_37 -1 known missense c.438 p.E146D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX4 HGNC ENSG00000100625 26 19 42.22 29 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46268875 46268875 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46268875 46268875 C A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known nonsense c.2104 p.E702* 0.732 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 68 25 26.88 88 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46268897 46268897 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46268897 46268897 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known silent c.2082 p.L694 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 49 50 50.51 83 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46268958 46268958 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46268958 46268958 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.2021 p.G674E 0.042 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 60 50 45.45 105 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46270163 46270163 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 46270163 46270163 C G SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 9 5 35.71 12 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46270270 46270270 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 46270270 46270270 G A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.947 p.P316L 0.993 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 13 4 23.53 23 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46270372 46270372 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46270372 46270372 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.845 p.R282Q 0.671 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 3 4 57.14 12 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46271345 46271345 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46271345 46271345 C G SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.758 p.R253P 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 25 9 26.47 37 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46271586 46271586 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46271586 46271586 C A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known nonsense c.517 p.E173* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 21 11 34.38 24 0 0.00 SIX5 147912 genome.wustl.edu 37 19 46271604 46271604 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46271604 46271604 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.499 p.A167T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 13 15 53.57 18 0 0.00 SIX6 4990 genome.wustl.edu 37 14 60976393 60976393 + Missense_Mutation SNP G G C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 14 60976393 60976393 G C SNP SIX6 ENST00000327720 human ensembl 70_37 +1 known missense c.277 p.E93Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX6 HGNC ENSG00000184302 51 13 20.31 46 0 0.00 SIX6 4990 genome.wustl.edu 37 14 60976683 60976683 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 14 60976683 60976683 G A SNP SIX6 ENST00000327720 human ensembl 70_37 +1 known silent c.567 p.K189 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX6 HGNC ENSG00000184302 41 17 29.31 48 0 0.00 SKA1 220134 genome.wustl.edu 37 18 47917639 47917639 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 47917639 47917639 G C SNP SKA1 ENST00000285116 human ensembl 70_37 +1 known missense c.595 p.D199H 1.000 pfam_DUF1395 pfam_DUF1395 - no_errors SKA1 HGNC ENSG00000154839 12 6 33.33 23 0 0.00 SKA2 348235 genome.wustl.edu 37 17 57189557 57189557 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 57189557 57189557 C G SNP SKA2 ENST00000583927 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SKA2 HGNC ENSG00000182628 52 11 17.46 56 0 0.00 SKAP1 8631 genome.wustl.edu 37 17 46214610 46214610 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46214610 46214610 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known silent c.1068 p.V356 0.988 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 84 20 19.23 79 0 0.00 SKAP1 8631 genome.wustl.edu 37 17 46239875 46239875 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 46239875 46239875 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known missense c.934 p.E312K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 47 7 12.96 76 0 0.00 SKAP1 8631 genome.wustl.edu 37 17 46262164 46262164 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 46262164 46262164 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known missense c.488 p.R163Q 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 24 21 46.67 81 0 0.00 SKAP2 8935 genome.wustl.edu 37 7 26883654 26883654 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 26883654 26883654 G A SNP SKAP2 ENST00000345317 human ensembl 70_37 -1 known missense c.302 p.S101F 0.996 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 60 16 21.05 75 0 0.00 SKI 6497 genome.wustl.edu 37 1 2235502 2235502 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 2235502 2235502 G A SNP SKI ENST00000378536 human ensembl 70_37 +1 known missense c.1435 p.D479N 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 10 5 33.33 19 0 0.00 SKIDA1 387640 genome.wustl.edu 37 10 21805509 21805509 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 21805509 21805509 C T SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known missense c.1243 p.E415K 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 44 29 39.73 69 0 0.00 SKIDA1 387640 genome.wustl.edu 37 10 21805717 21805717 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 21805717 21805717 G A SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known silent c.1035 p.H345 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 17 5 22.73 13 0 0.00 SKIDA1 387640 genome.wustl.edu 37 10 21806653 21806653 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 21806653 21806653 G A SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known silent c.99 p.F33 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 36 8 18.18 48 0 0.00 SKIL 6498 genome.wustl.edu 37 3 170078591 170078591 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 170078591 170078591 C G SNP SKIL ENST00000259119 human ensembl 70_37 +1 known missense c.472 p.Q158E 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 64 8 11.11 35 0 0.00 SKIL 6498 genome.wustl.edu 37 3 170079084 170079084 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170079084 170079084 C G SNP SKIL ENST00000259119 human ensembl 70_37 +1 known nonsense c.965 p.S322* 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 81 22 21.36 33 0 0.00 SKIV2L 6499 genome.wustl.edu 37 6 31929372 31929372 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31929372 31929372 C G SNP SKIV2L ENST00000461073 human ensembl 70_37 +1 known nonsense c.647 p.S216* 0.999 NULL NULL - no_errors SKIV2L HGNC ENSG00000204351 19 12 38.71 26 0 0.00 SKIV2L 6499 genome.wustl.edu 37 6 31933633 31933633 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31933633 31933633 G A SNP SKIV2L ENST00000375394 human ensembl 70_37 +1 known missense c.2045 p.R682H 1.000 pfam_Helicase_C,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 28 4 12.50 56 0 0.00 SKIV2L2 23517 genome.wustl.edu 37 5 54618187 54618187 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 54618187 54618187 C G SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known nonsense c.167 p.S56* 0.164 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 40 24 37.50 61 0 0.00 SKIV2L2 23517 genome.wustl.edu 37 5 54654485 54654485 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 54654485 54654485 G C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.1618 p.D540H 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 35 21 37.50 43 0 0.00 SKIV2L2 23517 genome.wustl.edu 37 5 54696067 54696067 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 54696067 54696067 C T SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known nonsense c.2299 p.Q767* 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 53 34 39.08 68 0 0.00 SKIV2L2 23517 genome.wustl.edu 37 5 54706374 54706374 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54706374 54706374 G C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.2668 p.E890Q 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 58 42 42.00 64 0 0.00 SKIV2L2 23517 genome.wustl.edu 37 5 54706386 54706386 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 54706386 54706386 A C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.2680 p.N894H 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 54 42 43.75 61 0 0.00 SKOR1 390598 genome.wustl.edu 37 15 68120237 68120237 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 68120237 68120237 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2071 p.G691S 0.001 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 52 14 21.21 64 0 0.00 SKOR1 390598 genome.wustl.edu 37 15 68120303 68120303 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 68120303 68120303 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2137 p.D713N 0.933 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 8 13 61.90 16 0 0.00 SKOR1 390598 genome.wustl.edu 37 15 68122618 68122618 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 68122618 68122618 C T SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2497 p.P833S 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 32 20 38.46 61 0 0.00 SKOR1 390598 genome.wustl.edu 37 15 68125560 68125560 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 15 68125560 68125560 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2768 p.R923Q 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 31 6 16.22 53 0 0.00 SKOR1 390598 genome.wustl.edu 37 15 68126105 68126105 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 68126105 68126105 C T SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known silent c.2829 p.F943 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 53 36 40.45 119 0 0.00 SKOR2 652991 genome.wustl.edu 37 18 44746342 44746342 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 44746342 44746342 C T SNP SKOR2 ENST00000425639 human ensembl 70_37 -1 novel missense c.2957 p.R986Q 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like,superfamily_FH2_actin-bd - no_errors SKOR2 HGNC ENSG00000215474 30 16 34.78 44 0 0.00 SKP2 6502 genome.wustl.edu 37 5 36183987 36183987 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 36183987 36183987 C T SNP SKP2 ENST00000274254 human ensembl 70_37 +1 known silent c.1107 p.I369 0.018 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors SKP2 HGNC ENSG00000145604 22 10 31.25 49 0 0.00 SLA 6503 genome.wustl.edu 37 8 134072369 134072369 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 134072369 134072369 C T SNP SLA ENST00000427060 human ensembl 70_37 -1 known missense c.157 p.E53K 0.983 superfamily_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 72 38 34.55 105 1 0.94 SLAIN1 122060 genome.wustl.edu 37 13 78320653 78320653 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 78320653 78320653 C T SNP SLAIN1 ENST00000466548 human ensembl 70_37 +1 known silent c.855 p.L285 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 48 19 28.36 61 0 0.00 SLAMF1 6504 genome.wustl.edu 37 1 160582348 160582348 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 160582348 160582348 G C SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known missense c.887 p.S296C 0.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 21 6 22.22 31 0 0.00 SLAMF1 6504 genome.wustl.edu 37 1 160593894 160593894 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 160593894 160593894 C T SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known missense c.782 p.R261K 0.255 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 57 34 37.36 30 0 0.00 SLAMF1 6504 genome.wustl.edu 37 1 160604405 160604405 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160604405 160604405 G C SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known nonsense c.698 p.S233* 0.786 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 33 41 55.41 45 0 0.00 SLAMF1 6504 genome.wustl.edu 37 1 160616718 160616718 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160616718 160616718 G A SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 18 18 50.00 33 0 0.00 SLAMF6 114836 genome.wustl.edu 37 1 160466129 160466129 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 160466129 160466129 C T SNP SLAMF6 ENST00000368057 human ensembl 70_37 -1 known missense c.104 p.G35E 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SLAMF6 HGNC ENSG00000162739 19 18 48.65 27 0 0.00 SLAMF7 57823 genome.wustl.edu 37 1 160721404 160721404 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 160721404 160721404 C T SNP SLAMF7 ENST00000484221 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SLAMF7 HGNC ENSG00000026751 8 10 55.56 22 0 0.00 SLAMF7 57823 genome.wustl.edu 37 1 160722997 160722998 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 160722997 160722998 - A INS SLAMF7 ENST00000484221 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors SLAMF7 HGNC ENSG00000026751 21 3 12.50 25 0 0.00 SLAMF8 56833 genome.wustl.edu 37 1 159799818 159799818 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159799818 159799818 T A SNP SLAMF8 ENST00000289707 human ensembl 70_37 +1 known missense c.203 p.L68Q 0.002 NULL pfscan_Ig-like - no_errors SLAMF8 HGNC ENSG00000158714 39 19 32.76 44 0 0.00 SLAMF8 56833 genome.wustl.edu 37 1 159799975 159799975 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 159799975 159799975 G C SNP SLAMF8 ENST00000289707 human ensembl 70_37 +1 known missense c.360 p.K120N 0.977 NULL pfscan_Ig-like - no_errors SLAMF8 HGNC ENSG00000158714 27 28 50.91 36 0 0.00 SLAMF9 89886 genome.wustl.edu 37 1 159922138 159922138 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 159922138 159922138 T C SNP SLAMF9 ENST00000368093 human ensembl 70_37 -1 known missense c.578 p.D193G 0.055 pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 49 22 30.99 58 0 0.00 SLC10A2 6555 genome.wustl.edu 37 13 103698551 103698551 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 103698551 103698551 C G SNP SLC10A2 ENST00000245312 human ensembl 70_37 -1 known missense c.979 p.E327Q 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 43 14 24.56 43 0 0.00 SLC10A3 8273 genome.wustl.edu 37 X 153716084 153716084 + Missense_Mutation SNP A A G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 153716084 153716084 A G SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known missense c.1196 p.V399A 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 49 7 12.50 48 0 0.00 SLC10A3 8273 genome.wustl.edu 37 X 153716978 153716978 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 153716978 153716978 G A SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known missense c.302 p.P101L 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 91 44 32.59 83 0 0.00 SLC10A3 8273 genome.wustl.edu 37 X 153717091 153717091 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 153717091 153717091 G C SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known silent c.189 p.G63 0.122 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 165 51 23.61 230 0 0.00 SLC10A4 201780 genome.wustl.edu 37 4 48490485 48490485 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 48490485 48490485 C G SNP SLC10A4 ENST00000273861 human ensembl 70_37 +1 known missense c.843 p.F281L 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 43 29 40.28 44 0 0.00 SLC10A4 201780 genome.wustl.edu 37 4 48490485 48490485 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48490485 48490485 C G SNP SLC10A4 ENST00000273861 human ensembl 70_37 +1 known missense c.843 p.F281L 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 30 19 38.78 41 0 0.00 SLC10A5 347051 genome.wustl.edu 37 8 82606649 82606650 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 82606649 82606650 - A INS SLC10A5 ENST00000518568 human ensembl 70_37 -1 known frame_shift_ins c.559_558 p.L186fs 1.000:1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 8 4 33.33 27 0 0.00 SLC10A7 84068 genome.wustl.edu 37 4 147247123 147247123 + Frame_Shift_Del DEL A A - TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 4 147247123 147247123 A - DEL SLC10A7 ENST00000394062 human ensembl 70_37 -1 known frame_shift_del c.461 p.L154fs 1.000 pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC ENSG00000120519 17 2 10.53 47 0 0.00 SLC11A2 4891 genome.wustl.edu 37 12 51382141 51382141 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51382141 51382141 C T SNP SLC11A2 ENST00000394904 human ensembl 70_37 -1 known silent c.1740 p.L580 0.978 NULL pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A2 HGNC ENSG00000110911 34 13 27.66 32 0 0.00 SLC11A2 4891 genome.wustl.edu 37 12 51394105 51394105 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 51394105 51394105 G C SNP SLC11A2 ENST00000394904 human ensembl 70_37 -1 known missense c.614 p.S205C 1.000 pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A2 HGNC ENSG00000110911 72 27 27.27 67 0 0.00 SLC12A1 6557 genome.wustl.edu 37 15 48539623 48539623 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 48539623 48539623 C T SNP SLC12A1 ENST00000380993 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 47 14 22.95 71 0 0.00 SLC12A1 6557 genome.wustl.edu 37 15 48584057 48584057 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 48584057 48584057 G A SNP SLC12A1 ENST00000380993 human ensembl 70_37 +1 known missense c.2956 p.E986K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 22 10 31.25 18 0 0.00 SLC12A2 6558 genome.wustl.edu 37 5 127449946 127449946 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 127449946 127449946 A T SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known nonsense c.919 p.R307* 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 36 17 32.08 73 0 0.00 SLC12A2 6558 genome.wustl.edu 37 5 127469859 127469859 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 127469859 127469859 A G SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known silent c.1191 p.E397 0.995 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 54 8 12.90 45 0 0.00 SLC12A2 6558 genome.wustl.edu 37 5 127493755 127493755 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 127493755 127493755 C T SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known missense c.2374 p.L792F 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 45 7 13.46 49 0 0.00 SLC12A2 6558 genome.wustl.edu 37 5 127507426 127507426 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 127507426 127507426 C G SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known missense c.2791 p.L931V 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 48 8 14.29 80 0 0.00 SLC12A3 6559 genome.wustl.edu 37 16 56899245 56899245 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 56899245 56899245 C A SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known missense c.98 p.P33Q 0.000 NULL pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 34 4 10.53 33 0 0.00 SLC12A3 6559 genome.wustl.edu 37 16 56906600 56906600 + Missense_Mutation SNP T T A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 56906600 56906600 T A SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known missense c.997 p.W333R 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 25 13 34.21 42 0 0.00 SLC12A3 6559 genome.wustl.edu 37 16 56918016 56918016 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 56918016 56918016 C T SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known silent c.1725 p.I575 0.019 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 86 18 17.14 135 0 0.00 SLC12A3 6559 genome.wustl.edu 37 16 56920999 56920999 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 56920999 56920999 C T SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known silent c.2172 p.L724 0.950 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 25 22 46.81 41 0 0.00 SLC12A4 6560 genome.wustl.edu 37 16 67986291 67986291 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67986291 67986291 G A SNP SLC12A4 ENST00000422611 human ensembl 70_37 -1 known missense c.719 p.S240L 0.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 96 42 30.43 160 0 0.00 SLC12A4 6560 genome.wustl.edu 37 16 67995560 67995560 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67995560 67995560 A G SNP SLC12A4 ENST00000422611 human ensembl 70_37 -1 known missense c.266 p.V89A 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 24 5 17.24 32 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44665926 44665926 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 44665926 44665926 C G SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.583 p.L195V 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 12 7 35.00 41 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44665958 44665958 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 20 44665958 44665958 C T SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known silent c.615 p.L205 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 31 5 13.89 54 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44669971 44669971 + Silent SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 20 44669971 44669971 C A SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known silent c.927 p.I309 1.000 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 22 28 56.00 50 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44670127 44670127 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 44670127 44670127 C A SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.1083 p.N361K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 22 4 15.38 37 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44671866 44671866 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 44671866 44671866 G A SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.1210 p.D404N 0.986 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 25 31 55.36 61 0 0.00 SLC12A5 57468 genome.wustl.edu 37 20 44681732 44681732 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 44681732 44681732 C G SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known silent c.2583 p.L861 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 156 41 20.81 125 0 0.00 SLC12A6 9990 genome.wustl.edu 37 15 34529007 34529007 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 34529007 34529007 C T SNP SLC12A6 ENST00000558589 human ensembl 70_37 -1 known missense c.2917 p.D973N 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 8 20 71.43 50 0 0.00 SLC12A6 9990 genome.wustl.edu 37 15 34553159 34553159 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 34553159 34553159 C T SNP SLC12A6 ENST00000558589 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 77 13 14.44 98 0 0.00 SLC12A7 10723 genome.wustl.edu 37 5 1076263 1076263 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 1076263 1076263 A T SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known missense c.1837 p.F613I 0.995 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 124 39 23.78 131 0 0.00 SLC12A7 10723 genome.wustl.edu 37 5 1078023 1078023 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 5 1078023 1078023 G A SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known silent c.1554 p.A518 0.553 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 71 15 17.44 26 0 0.00 SLC12A7 10723 genome.wustl.edu 37 5 1081831 1081831 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 1081831 1081831 C T SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known silent c.1158 p.A386 0.010 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 46 39 45.88 54 0 0.00 SLC12A7 10723 genome.wustl.edu 37 5 1087130 1087130 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 1087130 1087130 A G SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known missense c.563 p.M188T 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 38 13 25.49 46 0 0.00 SLC12A8 84561 genome.wustl.edu 37 3 124802869 124802869 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 124802869 124802869 G A SNP SLC12A8 ENST00000423114 human ensembl 70_37 -1 known silent c.2097 p.I699 0.725 NULL pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1 - no_errors SLC12A8 HGNC ENSG00000221955 30 7 18.92 10 0 0.00 SLC12A8 84561 genome.wustl.edu 37 3 124837625 124837625 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 124837625 124837625 C G SNP SLC12A8 ENST00000423114 human ensembl 70_37 -1 known silent c.987 p.L329 1.000 pfam_AA-permease_dom pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1 - no_errors SLC12A8 HGNC ENSG00000221955 20 5 20.00 16 0 0.00 SLC12A9 56996 genome.wustl.edu 37 7 100424587 100424587 + RNA DEL G G - TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 100424587 100424587 G - DEL SLC12A9 ENST00000461016 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors SLC12A9 HGNC ENSG00000146828 7 2 22.22 9 0 0.00 SLC12A9 56996 genome.wustl.edu 37 7 100463436 100463436 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 100463436 100463436 G A SNP SLC12A9 ENST00000354161 human ensembl 70_37 +1 known missense c.1954 p.D652N 0.006 NULL pfam_AA-permease_dom - no_errors SLC12A9 HGNC ENSG00000146828 49 8 14.04 31 0 0.00 SLC13A1 6561 genome.wustl.edu 37 7 122755586 122755586 + Nonsense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 122755586 122755586 C A SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known nonsense c.1774 p.E592* 0.001 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 70 11 13.58 52 0 0.00 SLC13A1 6561 genome.wustl.edu 37 7 122774466 122774466 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 122774466 122774466 G A SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known silent c.930 p.F310 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 8 24 75.00 49 0 0.00 SLC13A1 6561 genome.wustl.edu 37 7 122787347 122787347 + Silent SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 122787347 122787347 G T SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known silent c.678 p.T226 0.001 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 54 18 25.00 75 0 0.00 SLC13A1 6561 genome.wustl.edu 37 7 122821030 122821030 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 122821030 122821030 C G SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known missense c.225 p.K75N 0.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 2 8 80.00 40 0 0.00 SLC13A2 9058 genome.wustl.edu 37 17 26820598 26820598 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 26820598 26820598 G A SNP SLC13A2 ENST00000444914 human ensembl 70_37 +1 known silent c.1035 p.K345 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 30 5 14.29 26 0 0.00 SLC13A4 26266 genome.wustl.edu 37 7 135390911 135390911 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 7 135390911 135390911 G A SNP SLC13A4 ENST00000354042 human ensembl 70_37 -1 known missense c.503 p.A168V 0.003 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 46 8 14.81 41 0 0.00 SLC13A5 284111 genome.wustl.edu 37 17 6589534 6589534 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6589534 6589534 C G SNP SLC13A5 ENST00000433363 human ensembl 70_37 -1 known missense c.1699 p.E567Q 0.001 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 26 24 48.00 41 0 0.00 SLC13A5 284111 genome.wustl.edu 37 17 6604421 6604421 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6604421 6604421 G A SNP SLC13A5 ENST00000433363 human ensembl 70_37 -1 known silent c.741 p.L247 0.003 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 43 13 23.21 39 0 0.00 SLC14A2 8170 genome.wustl.edu 37 18 43223998 43223998 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 18 43223998 43223998 C G SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known missense c.1224 p.I408M 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 64 12 15.79 110 0 0.00 SLC14A2 8170 genome.wustl.edu 37 18 43224034 43224034 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 43224034 43224034 C T SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known silent c.1260 p.F420 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 72 24 25.00 104 0 0.00 SLC14A2 8170 genome.wustl.edu 37 18 43224124 43224124 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 18 43224124 43224124 C T SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known silent c.1350 p.S450 0.437 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 28 7 20.00 41 0 0.00 SLC15A1 6564 genome.wustl.edu 37 13 99338473 99338473 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 99338473 99338473 C T SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known missense c.1906 p.V636M 0.993 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 55 31 36.05 100 0 0.00 SLC15A1 6564 genome.wustl.edu 37 13 99356572 99356572 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 99356572 99356572 G A SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known silent c.1387 p.L463 0.610 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 24 41 63.08 54 0 0.00 SLC15A1 6564 genome.wustl.edu 37 13 99361909 99361909 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 99361909 99361909 C G SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known silent c.984 p.V328 0.998 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 58 7 10.77 52 0 0.00 SLC15A2 6565 genome.wustl.edu 37 3 121631876 121631876 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 121631876 121631876 C T SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known missense c.437 p.S146L 0.975 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 59 48 44.86 100 0 0.00 SLC15A2 6565 genome.wustl.edu 37 3 121646562 121646562 + RNA SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 121646562 121646562 G A SNP SLC15A2 ENST00000489957 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SLC15A2 HGNC ENSG00000163406 18 10 35.71 24 0 0.00 SLC15A2 6565 genome.wustl.edu 37 3 121647222 121647222 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121647222 121647222 G A SNP SLC15A2 ENST00000465060 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC15A2 HGNC ENSG00000163406 61 17 21.79 37 0 0.00 SLC15A2 6565 genome.wustl.edu 37 3 121647918 121647918 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 121647918 121647918 T C SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known silent c.1431 p.T477 0.329 pfam_POT_fam,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 86 21 19.63 123 0 0.00 SLC15A2 6565 genome.wustl.edu 37 3 121648193 121648193 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 121648193 121648193 G C SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known silent c.1551 p.V517 0.739 tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 65 20 23.53 30 0 0.00 SLC15A3 51296 genome.wustl.edu 37 11 60714117 60714117 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60714117 60714117 G C SNP SLC15A3 ENST00000227880 human ensembl 70_37 -1 known silent c.735 p.L245 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 53 8 13.11 59 0 0.00 SLC15A4 121260 genome.wustl.edu 37 12 129283957 129283957 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 129283957 129283957 C G SNP SLC15A4 ENST00000266771 human ensembl 70_37 -1 known missense c.1420 p.E474Q 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 17 22 56.41 26 0 0.00 SLC15A4 121260 genome.wustl.edu 37 12 129299439 129299439 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 129299439 129299439 G A SNP SLC15A4 ENST00000266771 human ensembl 70_37 -1 known silent c.723 p.L241 0.993 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 29 20 40.82 37 0 0.00 SLC15A5 729025 genome.wustl.edu 37 12 16430513 16430513 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 16430513 16430513 G A SNP SLC15A5 ENST00000344941 human ensembl 70_37 -1 novel missense c.107 p.S36F 0.006 NULL pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 11 4 26.67 64 0 0.00 SLC16A11 162515 genome.wustl.edu 37 17 6945572 6945572 + Missense_Mutation SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 17 6945572 6945572 C T SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known missense c.929 p.R310Q 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 9 4 30.77 13 0 0.00 SLC16A11 162515 genome.wustl.edu 37 17 6945690 6945690 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6945690 6945690 C G SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known missense c.811 p.D271H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 19 16 45.71 40 0 0.00 SLC16A11 162515 genome.wustl.edu 37 17 6945799 6945799 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 6945799 6945799 G T SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known silent c.702 p.L234 0.395 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 5 3 37.50 16 0 0.00 SLC16A12 387700 genome.wustl.edu 37 10 91195879 91195879 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 91195879 91195879 G C SNP SLC16A12 ENST00000371790 human ensembl 70_37 -1 known nonsense c.1226 p.S409* 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 27 3 10.00 26 0 0.00 SLC16A13 201232 genome.wustl.edu 37 17 6940071 6940071 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6940071 6940071 G A SNP SLC16A13 ENST00000308027 human ensembl 70_37 +1 known silent c.225 p.T75 0.903 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 23 13 36.11 45 0 0.00 SLC16A13 201232 genome.wustl.edu 37 17 6940134 6940134 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 6940134 6940134 C G SNP SLC16A13 ENST00000308027 human ensembl 70_37 +1 known silent c.288 p.L96 0.185 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 38 8 17.39 38 0 0.00 SLC16A14 151473 genome.wustl.edu 37 2 230902230 230902230 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 230902230 230902230 T C SNP SLC16A14 ENST00000295190 human ensembl 70_37 -1 known missense c.1399 p.T467A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 13 7 35.00 23 0 0.00 SLC16A14 151473 genome.wustl.edu 37 2 230910660 230910660 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 230910660 230910660 G T SNP SLC16A14 ENST00000295190 human ensembl 70_37 -1 known silent c.1182 p.L394 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 75 20 21.05 96 0 0.00 SLC16A2 6567 genome.wustl.edu 37 X 73740862 73740862 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 73740862 73740862 C G SNP SLC16A2 ENST00000276033 human ensembl 70_37 +1 known missense c.690 p.F230L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 63 55 46.22 62 0 0.00 SLC16A3 9123 genome.wustl.edu 37 17 80195168 80195168 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 80195168 80195168 C T SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known silent c.522 p.Y174 0.214 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 18 8 30.77 27 0 0.00 SLC16A3 9123 genome.wustl.edu 37 17 80195570 80195570 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 80195570 80195570 G A SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known silent c.924 p.A308 0.051 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 31 14 31.11 43 0 0.00 SLC16A3 9123 genome.wustl.edu 37 17 80195676 80195676 + Missense_Mutation SNP A A G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 80195676 80195676 A G SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known missense c.1030 p.M344V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 62 47 42.73 42 0 0.00 SLC16A4 9122 genome.wustl.edu 37 1 110919773 110919773 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 110919773 110919773 C T SNP SLC16A4 ENST00000369779 human ensembl 70_37 -1 known silent c.1041 p.E347 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 31 15 32.61 36 0 0.00 SLC16A4 9122 genome.wustl.edu 37 1 110921794 110921794 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 110921794 110921794 G C SNP SLC16A4 ENST00000369779 human ensembl 70_37 -1 known missense c.711 p.I237M 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 51 7 12.07 44 0 0.00 SLC16A5 9121 genome.wustl.edu 37 17 73094242 73094242 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73094242 73094242 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.309 p.L103 0.604 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 40 29 42.03 49 0 0.00 SLC16A5 9121 genome.wustl.edu 37 17 73096055 73096055 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 73096055 73096055 G A SNP SLC16A5 ENST00000582048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC16A5 HGNC ENSG00000170190 40 6 13.04 33 0 0.00 SLC16A5 9121 genome.wustl.edu 37 17 73096514 73096514 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 73096514 73096514 C G SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known missense c.756 p.F252L 0.333 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 315 141 30.85 467 0 0.00 SLC16A5 9121 genome.wustl.edu 37 17 73096595 73096595 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 73096595 73096595 C G SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known missense c.837 p.I279M 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 739 393 34.72 1280 1 0.08 SLC16A5 9121 genome.wustl.edu 37 17 73100198 73100198 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 17 73100198 73100198 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.1287 p.V429 0.000 pfam_MFS,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 35 7 16.67 30 0 0.00 SLC16A5 9121 genome.wustl.edu 37 17 73101990 73101990 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73101990 73101990 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.1380 p.R460 0.006 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 35 4 10.26 44 0 0.00 SLC16A7 9194 genome.wustl.edu 37 12 60168711 60168711 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 60168711 60168711 G T SNP SLC16A7 ENST00000261187 human ensembl 70_37 +1 known missense c.635 p.G212V 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 29 4 12.12 33 0 0.00 SLC16A9 220963 genome.wustl.edu 37 10 61412606 61412606 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 61412606 61412606 G C SNP SLC16A9 ENST00000395347 human ensembl 70_37 -1 known missense c.1454 p.S485C 0.001 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 21 26 55.32 42 0 0.00 SLC17A1 6568 genome.wustl.edu 37 6 25826704 25826704 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 25826704 25826704 G A SNP SLC17A1 ENST00000244527 human ensembl 70_37 -1 known silent c.192 p.L64 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 185 46 19.91 300 0 0.00 SLC17A1 6568 genome.wustl.edu 37 6 25826752 25826752 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 6 25826752 25826752 C T SNP SLC17A1 ENST00000244527 human ensembl 70_37 -1 known silent c.144 p.V48 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 81 43 34.40 197 0 0.00 SLC17A2 10246 genome.wustl.edu 37 6 25916060 25916060 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 25916060 25916060 C G SNP SLC17A2 ENST00000377850 human ensembl 70_37 -1 known missense c.967 p.A323P 0.160 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 23 10 30.30 33 0 0.00 SLC17A2 10246 genome.wustl.edu 37 6 25916994 25916995 + Frame_Shift_Ins INS - - A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 25916994 25916995 - A INS SLC17A2 ENST00000377850 human ensembl 70_37 -1 known frame_shift_ins c.849_848 p.S284fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 46 13 22.03 62 0 0.00 SLC17A2 10246 genome.wustl.edu 37 6 25917219 25917219 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25917219 25917219 A G SNP SLC17A2 ENST00000377850 human ensembl 70_37 -1 known missense c.746 p.I249T 0.986 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 19 12 38.71 43 0 0.00 SLC17A3 10786 genome.wustl.edu 37 6 25855375 25855375 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 25855375 25855375 A G SNP SLC17A3 ENST00000397060 human ensembl 70_37 -1 known missense c.709 p.F237L 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 42 9 17.65 38 0 0.00 SLC17A3 10786 genome.wustl.edu 37 6 25868604 25868604 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25868604 25868604 C A SNP SLC17A3 ENST00000397060 human ensembl 70_37 -1 known missense c.12 p.K4N 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 102 49 32.45 201 0 0.00 SLC17A4 10050 genome.wustl.edu 37 6 25770363 25770363 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25770363 25770363 C T SNP SLC17A4 ENST00000377905 human ensembl 70_37 +1 known silent c.366 p.F122 0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 45 38 45.78 106 0 0.00 SLC17A6 57084 genome.wustl.edu 37 11 22363242 22363242 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 22363242 22363242 C T SNP SLC17A6 ENST00000263160 human ensembl 70_37 +1 known silent c.255 p.F85 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 139 17 10.90 122 0 0.00 SLC17A6 57084 genome.wustl.edu 37 11 22363305 22363305 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 22363305 22363305 C T SNP SLC17A6 ENST00000263160 human ensembl 70_37 +1 known silent c.318 p.R106 0.636 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 129 27 17.31 86 0 0.00 SLC17A7 57030 genome.wustl.edu 37 19 49934353 49934353 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 49934353 49934353 G C SNP SLC17A7 ENST00000221485 human ensembl 70_37 -1 known missense c.1308 p.I436M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 11 8 40.00 30 0 0.00 SLC17A7 57030 genome.wustl.edu 37 19 49934389 49934389 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49934389 49934389 C A SNP SLC17A7 ENST00000221485 human ensembl 70_37 -1 known silent c.1272 p.V424 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 14 5 26.32 14 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100784871 100784871 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100784871 100784871 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.447 p.F149 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 19 12 38.71 44 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100787219 100787219 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 100787219 100787219 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.546 p.Y182 0.978 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 80 17 17.35 112 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100787237 100787237 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 100787237 100787237 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.564 p.V188 0.397 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 47 31 39.74 78 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100796201 100796201 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 100796201 100796201 G A SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known missense c.847 p.E283K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 28 17 37.78 32 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100813787 100813787 + Silent SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 100813787 100813787 G T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.1620 p.A540 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 30 11 26.83 42 0 0.00 SLC17A8 246213 genome.wustl.edu 37 12 100813924 100813924 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100813924 100813924 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known missense c.1757 p.S586L 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 17 4 19.05 11 0 0.00 SLC17A9 63910 genome.wustl.edu 37 20 61588825 61588825 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 61588825 61588825 C T SNP SLC17A9 ENST00000370351 human ensembl 70_37 +1 known missense c.290 p.A97V 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 6 3 33.33 28 0 0.00 SLC17A9 63910 genome.wustl.edu 37 20 61595652 61595652 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 61595652 61595652 C G SNP SLC17A9 ENST00000370351 human ensembl 70_37 +1 known missense c.895 p.H299D 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 27 40 59.70 123 0 0.00 SLC17A9 63910 genome.wustl.edu 37 20 61598100 61598100 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 61598100 61598100 C G SNP SLC17A9 ENST00000488738 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC17A9 HGNC ENSG00000101194 74 32 30.19 75 0 0.00 SLC18A1 6570 genome.wustl.edu 37 8 20004823 20004823 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 20004823 20004823 G A SNP SLC18A1 ENST00000276373 human ensembl 70_37 -1 known silent c.1410 p.V470 0.130 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 33 17 34.00 39 0 0.00 SLC18A1 6570 genome.wustl.edu 37 8 20036736 20036736 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 20036736 20036736 G A SNP SLC18A1 ENST00000276373 human ensembl 70_37 -1 known silent c.384 p.G128 0.769 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 64 32 33.33 95 0 0.00 SLC18A2 6571 genome.wustl.edu 37 10 119015165 119015165 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 119015165 119015165 G A SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.892 p.A298T 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 28 11 28.21 62 0 0.00 SLC18A2 6571 genome.wustl.edu 37 10 119029903 119029903 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 119029903 119029903 G A SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.1369 p.G457R 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 96 26 21.31 112 0 0.00 SLC18A2 6571 genome.wustl.edu 37 10 119036742 119036742 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 119036742 119036742 C G SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.1510 p.P504A 0.990 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 10 3 23.08 22 0 0.00 SLC18A3 6572 genome.wustl.edu 37 10 50819083 50819083 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 50819083 50819083 G A SNP SLC18A3 ENST00000374115 human ensembl 70_37 +1 known silent c.297 p.A99 0.690 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 17 6 26.09 25 0 0.00 SLC18A3 6572 genome.wustl.edu 37 10 50819456 50819456 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 50819456 50819456 G A SNP SLC18A3 ENST00000374115 human ensembl 70_37 +1 known missense c.670 p.G224R 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 39 7 15.22 35 0 0.00 SLC18A3 6572 genome.wustl.edu 37 10 50819881 50819881 + Silent SNP T T G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 50819881 50819881 T G SNP SLC18A3 ENST00000374115 human ensembl 70_37 +1 known silent c.1095 p.A365 0.995 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 34 14 29.17 66 0 0.00 SLC18B1 116843 genome.wustl.edu 37 6 133100476 133100476 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 133100476 133100476 G A SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known silent c.726 p.F242 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 27 7 20.59 66 0 0.00 SLC18B1 116843 genome.wustl.edu 37 6 133100529 133100529 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 133100529 133100529 C T SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known missense c.673 p.E225K 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 69 35 33.65 149 0 0.00 SLC18B1 116843 genome.wustl.edu 37 6 133111362 133111362 + Splice_Site SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 133111362 133111362 C T SNP SLC18B1 ENST00000367918 human ensembl 70_37 -1 known splice_site c.232+1 e3+1 1.000 - - - no_errors SLC18B1 HGNC ENSG00000146409 90 19 17.43 72 0 0.00 SLC18B1 116843 genome.wustl.edu 37 6 133111403 133111403 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 133111403 133111403 C G SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known missense c.192 p.K64N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 9 6 40.00 14 0 0.00 SLC19A1 6573 genome.wustl.edu 37 21 46935896 46935896 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46935896 46935896 C T SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known silent c.1452 p.L484 0.001 pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 24 11 31.43 10 0 0.00 SLC19A1 6573 genome.wustl.edu 37 21 46951727 46951727 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46951727 46951727 G A SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known silent c.525 p.V175 0.993 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 68 25 26.88 82 0 0.00 SLC19A1 6573 genome.wustl.edu 37 21 46951839 46951839 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46951839 46951839 G C SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known missense c.413 p.S138C 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 40 10 20.00 50 0 0.00 SLC19A1 6573 genome.wustl.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 46951916 46951918 CAG - DEL SLC19A1 ENST00000311124 human ensembl 70_37 -1 known in_frame_del c.336_334 p.L112in_frame_del 0.002:0.005:0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 28 4 12.50 37 0 0.00 SLC19A2 10560 genome.wustl.edu 37 1 169435091 169435091 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 169435091 169435091 G A SNP SLC19A2 ENST00000236137 human ensembl 70_37 -1 known missense c.1490 p.S497L 0.017 pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 20 9 31.03 23 0 0.00 SLC19A2 10560 genome.wustl.edu 37 1 169437992 169437992 + Silent SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 1 169437992 169437992 G A SNP SLC19A2 ENST00000236137 human ensembl 70_37 -1 known silent c.1113 p.L371 0.931 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 25 6 19.35 47 0 0.00 SLC19A3 80704 genome.wustl.edu 37 2 228552884 228552884 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 228552884 228552884 G A SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known nonsense c.1312 p.Q438* 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 11 10 47.62 27 0 0.00 SLC19A3 80704 genome.wustl.edu 37 2 228552884 228552884 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 228552884 228552884 G A SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known nonsense c.1312 p.Q438* 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 13 6 31.58 19 0 0.00 SLC19A3 80704 genome.wustl.edu 37 2 228563510 228563510 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 228563510 228563510 C T SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known silent c.921 p.A307 0.991 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 45 5 10.00 34 0 0.00 SLC19A3 80704 genome.wustl.edu 37 2 228564076 228564076 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 228564076 228564076 C T SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known missense c.355 p.A119T 0.988 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 13 63 82.89 116 1 0.85 SLC1A1 6505 genome.wustl.edu 37 9 4576646 4576646 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 4576646 4576646 T G SNP SLC1A1 ENST00000262352 human ensembl 70_37 +1 known nonsense c.1076 p.L359* 0.764 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 27 4 12.90 68 0 0.00 SLC1A2 6506 genome.wustl.edu 37 11 35308464 35308464 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 35308464 35308464 C G SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 32 8 20.00 38 0 0.00 SLC1A2 6506 genome.wustl.edu 37 11 35308464 35308464 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 11 35308464 35308464 C G SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.1126 p.E376Q 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 84 24 22.02 246 0 0.00 SLC1A2 6506 genome.wustl.edu 37 11 35323113 35323113 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 35323113 35323113 G C SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.810 p.F270L 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 76 11 12.64 43 0 0.00 SLC1A2 6506 genome.wustl.edu 37 11 35336587 35336587 + Missense_Mutation SNP A A T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 35336587 35336587 A T SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.293 p.I98N 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 39 18 31.58 52 0 0.00 SLC1A3 6507 genome.wustl.edu 37 5 36677065 36677065 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 36677065 36677065 G C SNP SLC1A3 ENST00000265113 human ensembl 70_37 +1 known silent c.639 p.V213 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 32 24 42.86 50 0 0.00 SLC1A4 6509 genome.wustl.edu 37 2 65217093 65217093 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 65217093 65217093 G A SNP SLC1A4 ENST00000234256 human ensembl 70_37 +1 known missense c.316 p.D106N 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 3 3 50.00 10 0 0.00 SLC1A5 6510 genome.wustl.edu 37 19 47278773 47278773 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47278773 47278773 G C SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known silent c.1620 p.V540 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 31 14 31.11 50 0 0.00 SLC1A5 6510 genome.wustl.edu 37 19 47282071 47282071 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 47282071 47282071 G C SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known missense c.919 p.L307V 0.989 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 47 16 25.40 36 0 0.00 SLC1A5 6510 genome.wustl.edu 37 19 47287779 47287779 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 47287779 47287779 G A SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known missense c.604 p.R202C 0.998 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 234 119 33.62 377 0 0.00 SLC1A6 6511 genome.wustl.edu 37 19 15067377 15067377 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 15067377 15067377 G T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known silent c.1080 p.L360 0.999 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 39 7 15.22 44 0 0.00 SLC1A6 6511 genome.wustl.edu 37 19 15079227 15079227 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15079227 15079227 C T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known missense c.436 p.G146S 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 33 9 21.43 40 0 0.00 SLC1A6 6511 genome.wustl.edu 37 19 15083604 15083604 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 15083604 15083604 C T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known missense c.119 p.R40H 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 20 3 13.04 28 0 0.00 SLC1A6 6511 genome.wustl.edu 37 19 15083604 15083604 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 15083604 15083604 C T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known missense c.119 p.R40H 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 27 5 15.62 31 0 0.00 SLC1A7 6512 genome.wustl.edu 37 1 53580588 53580588 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 53580588 53580588 G A SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known silent c.273 p.L91 0.988 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 41 20 32.79 60 0 0.00 SLC1A7 6512 genome.wustl.edu 37 1 53580642 53580642 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 53580642 53580642 C G SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known missense c.219 p.L73F 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 18 4 18.18 17 0 0.00 SLC1A7 6512 genome.wustl.edu 37 1 53600054 53600054 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53600054 53600054 C T SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known silent c.183 p.L61 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 18 19 51.35 21 0 0.00 SLC20A1 6574 genome.wustl.edu 37 2 113416402 113416402 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113416402 113416402 G A SNP SLC20A1 ENST00000272542 human ensembl 70_37 +1 known missense c.779 p.R260Q 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 96 23 19.33 127 0 0.00 SLC20A2 6575 genome.wustl.edu 37 8 42286294 42286294 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 42286294 42286294 G T SNP SLC20A2 ENST00000342228 human ensembl 70_37 -1 known silent c.1776 p.V592 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 23 5 17.86 46 0 0.00 SLC20A2 6575 genome.wustl.edu 37 8 42294923 42294923 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 42294923 42294923 C T SNP SLC20A2 ENST00000342228 human ensembl 70_37 -1 known silent c.1107 p.E369 0.694 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 60 16 21.05 84 0 0.00 SLC20A2 6575 genome.wustl.edu 37 8 42296980 42296980 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 42296980 42296980 G A SNP SLC20A2 ENST00000342228 human ensembl 70_37 -1 known missense c.922 p.R308W 0.947 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 36 30 45.45 55 0 0.00 SLC22A1 6580 genome.wustl.edu 37 6 160557675 160557675 + Missense_Mutation SNP T T A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 160557675 160557675 T A SNP SLC22A1 ENST00000366963 human ensembl 70_37 +1 known missense c.1054 p.Y352N 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 70 8 10.26 70 0 0.00 SLC22A1 6580 genome.wustl.edu 37 6 160560881 160560883 + In_Frame_Del DEL ATG ATG - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160560881 160560883 ATG - DEL SLC22A1 ENST00000366963 human ensembl 70_37 +1 known in_frame_del c.1258_1260 p.M420in_frame_del 0.394:0.028:0.014 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 117 16 12.03 148 0 0.00 SLC22A10 387775 genome.wustl.edu 37 11 63072163 63072163 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 63072163 63072163 G C SNP SLC22A10 ENST00000332793 human ensembl 70_37 +1 known missense c.1400 p.R467T 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 12 3 20.00 41 0 0.00 SLC22A10 387775 genome.wustl.edu 37 11 63072233 63072233 + Silent SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 63072233 63072233 G T SNP SLC22A10 ENST00000332793 human ensembl 70_37 +1 known silent c.1470 p.T490 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 65 22 25.29 60 0 0.00 SLC22A12 116085 genome.wustl.edu 37 11 64366018 64366018 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64366018 64366018 C T SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known silent c.861 p.L287 0.321 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 44 14 24.14 70 0 0.00 SLC22A12 116085 genome.wustl.edu 37 11 64366282 64366282 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64366282 64366282 C G SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known silent c.957 p.V319 0.003 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 30 14 31.82 48 0 0.00 SLC22A12 116085 genome.wustl.edu 37 11 64367308 64367308 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 64367308 64367308 G C SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known missense c.1231 p.A411P 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 36 24 40.00 45 0 0.00 SLC22A13 9390 genome.wustl.edu 37 3 38307700 38307700 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38307700 38307700 G A SNP SLC22A13 ENST00000311856 human ensembl 70_37 +1 known missense c.349 p.E117K 0.015 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 20 3 13.04 22 0 0.00 SLC22A13 9390 genome.wustl.edu 37 3 38315826 38315826 + Missense_Mutation SNP C C G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 3 38315826 38315826 C G SNP SLC22A13 ENST00000311856 human ensembl 70_37 +1 known missense c.442 p.L148V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 38 25 39.68 51 0 0.00 SLC22A13 9390 genome.wustl.edu 37 3 38316945 38316945 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 38316945 38316945 C G SNP SLC22A13 ENST00000450935 human ensembl 70_37 +1 known missense c.613 p.Q205E 0.527 NULL NULL - no_errors SLC22A13 HGNC ENSG00000172940 17 20 52.63 53 0 0.00 SLC22A14 9389 genome.wustl.edu 37 3 38347923 38347923 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 38347923 38347923 C A SNP SLC22A14 ENST00000273173 human ensembl 70_37 +1 known missense c.406 p.P136T 0.998 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 50 19 27.54 51 0 0.00 SLC22A14 9389 genome.wustl.edu 37 3 38354944 38354944 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38354944 38354944 C G SNP SLC22A14 ENST00000273173 human ensembl 70_37 +1 known silent c.1131 p.L377 0.592 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 34 13 27.66 35 0 0.00 SLC22A15 55356 genome.wustl.edu 37 1 116534855 116534855 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 116534855 116534855 C T SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known silent c.291 p.I97 0.940 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 6 3 33.33 9 0 0.00 SLC22A15 55356 genome.wustl.edu 37 1 116574045 116574045 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 116574045 116574045 G C SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known missense c.787 p.E263Q 0.987 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 31 25 44.64 64 0 0.00 SLC22A15 55356 genome.wustl.edu 37 1 116574197 116574197 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 116574197 116574197 C A SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known missense c.939 p.F313L 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 11 5 31.25 40 0 0.00 SLC22A16 85413 genome.wustl.edu 37 6 110759974 110759974 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110759974 110759974 G A SNP SLC22A16 ENST00000368919 human ensembl 70_37 -1 known silent c.1260 p.Y420 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 31 13 29.55 54 0 0.00 SLC22A17 51310 genome.wustl.edu 37 14 23821025 23821025 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23821025 23821025 C G SNP SLC22A17 ENST00000206544 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_MFS,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 75 14 15.73 105 0 0.00 SLC22A18AS 5003 genome.wustl.edu 37 11 2909859 2909859 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 11 2909859 2909859 G A SNP SLC22A18AS ENST00000533594 human ensembl 70_37 -1 known missense c.313 p.R105W 0.000 NULL NULL - no_errors SLC22A18AS HGNC ENSG00000254827 24 4 14.29 37 0 0.00 SLC22A2 6582 genome.wustl.edu 37 6 160638427 160638427 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 160638427 160638427 C G SNP SLC22A2 ENST00000498556 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC22A2 HGNC ENSG00000112499 32 9 21.95 46 0 0.00 SLC22A2 6582 genome.wustl.edu 37 6 160662520 160662520 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 160662520 160662520 G A SNP SLC22A2 ENST00000366953 human ensembl 70_37 -1 known missense c.1487 p.P496L 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 12 19 61.29 23 0 0.00 SLC22A2 6582 genome.wustl.edu 37 6 160666565 160666565 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 160666565 160666565 C G SNP SLC22A2 ENST00000366953 human ensembl 70_37 -1 known missense c.970 p.E324Q 0.022 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 6 19 76.00 20 0 0.00 SLC22A20 440044 genome.wustl.edu 37 11 64993027 64993027 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64993027 64993027 G T SNP SLC22A20 ENST00000525264 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC22A20 HGNC ENSG00000197847 96 39 28.89 133 0 0.00 SLC22A20 440044 genome.wustl.edu 37 11 64993248 64993248 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64993248 64993248 C T SNP SLC22A20 ENST00000525264 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC22A20 HGNC ENSG00000197847 22 8 26.67 23 0 0.00 SLC22A20 440044 genome.wustl.edu 37 11 65009468 65009468 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 65009468 65009468 G C SNP SLC22A20 ENST00000525437 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SLC22A20 HGNC ENSG00000197847 54 22 28.95 38 0 0.00 SLC22A23 63027 genome.wustl.edu 37 6 3287169 3287169 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 3287169 3287169 G A SNP SLC22A23 ENST00000406686 human ensembl 70_37 -1 known silent c.1470 p.L490 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 27 11 28.95 47 0 0.00 SLC22A23 63027 genome.wustl.edu 37 6 3323946 3323946 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 3323946 3323946 C G SNP SLC22A23 ENST00000433689 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors SLC22A23 HGNC ENSG00000137266 19 22 53.66 43 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62871649 62871649 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 62871649 62871649 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative missense c.952 p.E318K 0.417 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 29 13 30.95 31 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62871656 62871656 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 62871656 62871656 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.945 p.L315 0.147 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 4 28 87.50 46 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62871743 62871743 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 62871743 62871743 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.858 p.L286 0.913 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 24 4 14.29 27 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62871743 62871743 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 62871743 62871743 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.858 p.L286 0.913 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 29 11 27.50 30 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62886398 62886398 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 62886398 62886398 G C SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known silent c.816 p.L272 0.015 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 42 24 35.82 53 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62886681 62886681 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 62886681 62886681 C G SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known missense c.633 p.M211I 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 20 5 20.00 23 0 0.00 SLC22A24 283238 genome.wustl.edu 37 11 62886759 62886759 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 62886759 62886759 G C SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known missense c.555 p.I185M 0.028 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 11 11 50.00 19 0 0.00 SLC22A25 387601 genome.wustl.edu 37 11 62933611 62933611 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 62933611 62933611 G A SNP SLC22A25 ENST00000306494 human ensembl 70_37 -1 known missense c.1190 p.P397L 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 49 15 23.44 82 0 0.00 SLC22A31 146429 genome.wustl.edu 37 16 89264650 89264650 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 89264650 89264650 C G SNP SLC22A31 ENST00000562855 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SLC22A31 HGNC ENSG00000259803 31 6 16.22 31 0 0.00 SLC22A31 146429 genome.wustl.edu 37 16 89265101 89265101 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 89265101 89265101 C T SNP SLC22A31 ENST00000562855 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC22A31 HGNC ENSG00000259803 43 5 10.42 71 0 0.00 SLC22A4 6583 genome.wustl.edu 37 5 131671652 131671652 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 131671652 131671652 C G SNP SLC22A4 ENST00000200652 human ensembl 70_37 +1 known missense c.1403 p.S468C 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 63 18 21.95 54 0 0.00 SLC22A4 6583 genome.wustl.edu 37 5 131676382 131676382 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 131676382 131676382 G A SNP SLC22A4 ENST00000200652 human ensembl 70_37 +1 known silent c.1569 p.Q523 0.999 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 51 16 23.53 70 0 0.00 SLC22A5 6584 genome.wustl.edu 37 5 131714085 131714085 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 131714085 131714085 G C SNP SLC22A5 ENST00000435065 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 pfam_Sub_transporter,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 32 20 38.46 58 0 0.00 SLC22A6 9356 genome.wustl.edu 37 11 62744783 62744783 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 62744783 62744783 C T SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known missense c.1438 p.E480K 0.999 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 16 6 27.27 17 0 0.00 SLC22A6 9356 genome.wustl.edu 37 11 62747277 62747277 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 62747277 62747277 C T SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known missense c.1181 p.R394H 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 38 19 33.33 14 0 0.00 SLC22A6 9356 genome.wustl.edu 37 11 62752043 62752043 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62752043 62752043 G A SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known silent c.120 p.F40 1.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 46 34 42.50 56 0 0.00 SLC22A6 9356 genome.wustl.edu 37 11 62752073 62752073 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 11 62752073 62752073 C T SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known silent c.90 p.L30 1.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 39 43 52.44 93 0 0.00 SLC22A7 10864 genome.wustl.edu 37 6 43267781 43267781 + Silent SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 43267781 43267781 T C SNP SLC22A7 ENST00000372585 human ensembl 70_37 +1 known silent c.804 p.C268 0.002 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 20 8 28.57 33 0 0.00 SLC22A7 10864 genome.wustl.edu 37 6 43270123 43270123 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 43270123 43270123 C T SNP SLC22A7 ENST00000372585 human ensembl 70_37 +1 known missense c.1247 p.A416V 0.007 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 24 7 22.58 45 0 0.00 SLC22A8 9376 genome.wustl.edu 37 11 62762218 62762218 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 62762218 62762218 C T SNP SLC22A8 ENST00000336232 human ensembl 70_37 -1 known missense c.1012 p.G338S 0.438 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 23 25 52.08 19 0 0.00 SLC22A8 9376 genome.wustl.edu 37 11 62762218 62762218 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 62762218 62762218 C T SNP SLC22A8 ENST00000336232 human ensembl 70_37 -1 known missense c.1012 p.G338S 0.438 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 45 31 40.79 81 0 0.00 SLC22A8 9376 genome.wustl.edu 37 11 62766483 62766483 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62766483 62766483 A C SNP SLC22A8 ENST00000336232 human ensembl 70_37 -1 known missense c.671 p.I224S 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 13 5 27.78 28 0 0.00 SLC22A9 114571 genome.wustl.edu 37 11 63138626 63138626 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63138626 63138626 C T SNP SLC22A9 ENST00000279178 human ensembl 70_37 +1 known missense c.422 p.S141F 0.022 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 68 18 20.93 125 0 0.00 SLC22A9 114571 genome.wustl.edu 37 11 63149671 63149671 + Frame_Shift_Del DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 63149671 63149671 A - DEL SLC22A9 ENST00000279178 human ensembl 70_37 +1 known frame_shift_del c.995 p.K335fs 0.005 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 31 5 13.89 53 0 0.00 SLC22A9 114571 genome.wustl.edu 37 11 63176208 63176208 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 63176208 63176208 C G SNP SLC22A9 ENST00000279178 human ensembl 70_37 +1 known silent c.1458 p.L486 0.476 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 71 52 42.28 87 0 0.00 SLC23A2 9962 genome.wustl.edu 37 20 4864395 4864395 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 4864395 4864395 C T SNP SLC23A2 ENST00000338244 human ensembl 70_37 -1 known silent c.717 p.L239 0.999 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 7 19 73.08 29 0 0.00 SLC23A3 151295 genome.wustl.edu 37 2 220029972 220029972 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220029972 220029972 G C SNP SLC23A3 ENST00000455516 human ensembl 70_37 -1 known silent c.1110 p.G370 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 7 13 65.00 34 0 0.00 SLC23A3 151295 genome.wustl.edu 37 2 220030095 220030095 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220030095 220030095 G C SNP SLC23A3 ENST00000455516 human ensembl 70_37 -1 known missense c.987 p.I329M 0.993 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 16 6 27.27 24 0 0.00 SLC24A1 9187 genome.wustl.edu 37 15 65917451 65917451 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 65917451 65917451 C G SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.1033 p.L345V 0.000 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 30 6 16.67 9 0 0.00 SLC24A1 9187 genome.wustl.edu 37 15 65918097 65918097 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 65918097 65918097 G A SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.1679 p.R560H 1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 63 31 32.98 135 0 0.00 SLC24A1 9187 genome.wustl.edu 37 15 65942798 65942798 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 65942798 65942798 G A SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.2311 p.E771K 0.044 tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 25 19 43.18 26 0 0.00 SLC24A2 25769 genome.wustl.edu 37 9 19786763 19786763 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 19786763 19786763 C T SNP SLC24A2 ENST00000341998 human ensembl 70_37 -1 known silent c.102 p.L34 0.998 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 29 21 42.00 55 0 0.00 SLC24A2 25769 genome.wustl.edu 37 9 19786828 19786828 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 19786828 19786828 C T SNP SLC24A2 ENST00000341998 human ensembl 70_37 -1 known missense c.37 p.E13K 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 22 12 35.29 45 0 0.00 SLC24A3 57419 genome.wustl.edu 37 20 19634743 19634743 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 19634743 19634743 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known missense c.650 p.S217F 0.979 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 26 20 43.48 34 0 0.00 SLC24A3 57419 genome.wustl.edu 37 20 19666001 19666001 + Silent SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 19666001 19666001 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known silent c.1320 p.T440 0.995 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 59 17 22.37 64 0 0.00 SLC24A3 57419 genome.wustl.edu 37 20 19701772 19701772 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 19701772 19701772 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known silent c.1923 p.C641 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 39 8 17.02 66 0 0.00 SLC24A4 123041 genome.wustl.edu 37 14 92905693 92905693 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 92905693 92905693 C G SNP SLC24A4 ENST00000532405 human ensembl 70_37 +1 known missense c.333 p.F111L 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 170 53 23.77 263 0 0.00 SLC24A4 123041 genome.wustl.edu 37 14 92923626 92923626 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 92923626 92923626 A G SNP SLC24A4 ENST00000556739 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC24A4 HGNC ENSG00000140090 40 5 11.11 60 0 0.00 SLC24A5 283652 genome.wustl.edu 37 15 48414129 48414129 + Missense_Mutation SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 48414129 48414129 A G SNP SLC24A5 ENST00000341459 human ensembl 70_37 +1 known missense c.197 p.D66G 0.984 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 112 51 31.10 174 0 0.00 SLC24A5 283652 genome.wustl.edu 37 15 48434526 48434526 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48434526 48434526 A C SNP SLC24A5 ENST00000341459 human ensembl 70_37 +1 known missense c.1481 p.K494T 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 24 3 11.11 37 0 0.00 SLC8B1 80024 genome.wustl.edu 37 12 113753242 113753242 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 113753242 113753242 C T SNP SLC24A6 ENST00000202831 human ensembl 70_37 -1 known missense c.1033 p.V345M 0.983 NULL pfam_NaCa_Exmemb - no_errors SLC24A6 HGNC ENSG00000089060 40 9 18.37 84 0 0.00 SLC25A1 6576 genome.wustl.edu 37 22 19165323 19165323 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 19165323 19165323 C T SNP SLC25A1 ENST00000215882 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 16 15 48.39 36 0 0.00 SLC25A1 6576 genome.wustl.edu 37 22 19165323 19165323 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 19165323 19165323 C T SNP SLC25A1 ENST00000215882 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 70 39 35.78 26 0 0.00 SLC25A10 1468 genome.wustl.edu 37 17 79674001 79674001 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79674001 79674001 G A SNP SLC25A10 ENST00000541223 human ensembl 70_37 +1 known silent c.411 p.A137 0.034 pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 60 10 14.29 29 0 0.00 SLC25A11 8402 genome.wustl.edu 37 17 4842251 4842251 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 4842251 4842251 G A SNP SLC25A11 ENST00000225665 human ensembl 70_37 -1 known missense c.268 p.R90C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A11 HGNC ENSG00000108528 56 20 26.32 110 0 0.00 SLC25A12 8604 genome.wustl.edu 37 2 172648021 172648021 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 172648021 172648021 G C SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.1525 p.L509V 0.213 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 42 26 38.24 55 0 0.00 SLC25A12 8604 genome.wustl.edu 37 2 172648021 172648021 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 172648021 172648021 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known silent c.1525 p.L509 0.213 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 59 21 26.25 78 0 0.00 SLC25A12 8604 genome.wustl.edu 37 2 172690498 172690498 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 172690498 172690498 G T SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.820 p.L274I 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 31 4 11.43 70 0 0.00 SLC25A12 8604 genome.wustl.edu 37 2 172691340 172691340 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 172691340 172691340 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known silent c.648 p.F216 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 47 19 28.79 59 0 0.00 SLC25A12 8604 genome.wustl.edu 37 2 172693632 172693632 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172693632 172693632 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.611 p.S204L 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 27 11 28.95 27 0 0.00 SLC25A13 10165 genome.wustl.edu 37 7 95818668 95818668 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 95818668 95818668 C T SNP SLC25A13 ENST00000416240 human ensembl 70_37 -1 known missense c.871 p.E291K 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 66 18 21.43 72 0 0.00 SLC25A13 10165 genome.wustl.edu 37 7 95820510 95820510 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 95820510 95820510 C A SNP SLC25A13 ENST00000416240 human ensembl 70_37 -1 known missense c.665 p.G222V 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 36 4 10.00 31 0 0.00 SLC25A14 9016 genome.wustl.edu 37 X 129499593 129499593 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129499593 129499593 G C SNP SLC25A14 ENST00000339231 human ensembl 70_37 +1 known missense c.882 p.Q294H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 53 46 46.46 105 0 0.00 SLC25A14 9016 genome.wustl.edu 37 X 129506941 129506941 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 129506941 129506941 G A SNP SLC25A14 ENST00000465988 human ensembl 70_37 +1 known rna NULL NULL 0.243 - - - no_errors SLC25A14 HGNC ENSG00000102078 93 36 27.69 115 1 0.86 SLC25A15 10166 genome.wustl.edu 37 13 41379374 41379374 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 41379374 41379374 G C SNP SLC25A15 ENST00000338625 human ensembl 70_37 +1 known missense c.435 p.K145N 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A15 HGNC ENSG00000102743 49 29 36.71 69 0 0.00 SLC25A16 8034 genome.wustl.edu 37 10 70243195 70243195 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70243195 70243195 G C SNP SLC25A16 ENST00000265870 human ensembl 70_37 -1 known silent c.993 p.L331 0.989 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC ENSG00000122912 22 18 45.00 18 0 0.00 SLC25A16 8034 genome.wustl.edu 37 10 70243298 70243298 + Missense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 70243298 70243298 C A SNP SLC25A16 ENST00000265870 human ensembl 70_37 -1 known missense c.890 p.R297L 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC ENSG00000122912 27 15 35.71 55 0 0.00 SLC25A17 10478 genome.wustl.edu 37 22 41166798 41166798 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 41166798 41166798 C T SNP SLC25A17 ENST00000491545 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC25A17 HGNC ENSG00000100372 60 11 15.49 78 0 0.00 SLC25A18 83733 genome.wustl.edu 37 22 18069913 18069913 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 18069913 18069913 C G SNP SLC25A18 ENST00000327451 human ensembl 70_37 +1 known missense c.421 p.Q141E 0.757 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 31 30 49.18 62 0 0.00 SLC25A2 83884 genome.wustl.edu 37 5 140683187 140683187 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 140683187 140683187 G A SNP SLC25A2 ENST00000239451 human ensembl 70_37 -1 known silent c.246 p.F82 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 16 11 40.74 34 0 0.00 SLC25A21 89874 genome.wustl.edu 37 14 37194846 37194846 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 37194846 37194846 C T SNP SLC25A21 ENST00000331299 human ensembl 70_37 -1 known missense c.367 p.E123K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 25 19 43.18 25 0 0.00 SLC25A21 89874 genome.wustl.edu 37 14 37283178 37283178 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 37283178 37283178 G A SNP SLC25A21 ENST00000331299 human ensembl 70_37 -1 known missense c.148 p.P50S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 11 25 69.44 106 0 0.00 SLC25A22 79751 genome.wustl.edu 37 11 794835 794835 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 794835 794835 G A SNP SLC25A22 ENST00000320230 human ensembl 70_37 -1 known silent c.87 p.I29 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A22 HGNC ENSG00000177542 45 11 19.64 39 0 0.00 SLC25A23 79085 genome.wustl.edu 37 19 6454376 6454376 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 6454376 6454376 C G SNP SLC25A23 ENST00000264088 human ensembl 70_37 -1 known missense c.894 p.K298N 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 141 19 11.88 180 1 0.55 SLC25A24 29957 genome.wustl.edu 37 1 108681794 108681794 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 108681794 108681794 C G SNP SLC25A24 ENST00000565488 human ensembl 70_37 -1 known missense c.1135 p.D379H 0.998 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 52 10 16.13 39 0 0.00 SLC25A24 29957 genome.wustl.edu 37 1 108735196 108735196 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 108735196 108735196 C A SNP SLC25A24 ENST00000370041 human ensembl 70_37 -1 known missense c.48 p.K16N 0.000 smart_EF_hand_Ca-bd pfam_Mitochondrial_sb/sol_carrier,pfam_EF-hand,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 20 3 13.04 42 0 0.00 SLC25A28 81894 genome.wustl.edu 37 10 101370574 101370574 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 101370574 101370574 C T SNP SLC25A28 ENST00000497217 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC25A28 HGNC ENSG00000155287 35 23 39.66 80 0 0.00 SLC25A28 81894 genome.wustl.edu 37 10 101371144 101371144 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 101371144 101371144 G A SNP SLC25A28 ENST00000489307 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors SLC25A28 HGNC ENSG00000155287 19 10 34.48 24 0 0.00 SLC25A3 5250 genome.wustl.edu 37 12 98995213 98995213 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 98995213 98995213 C G SNP SLC25A3 ENST00000228318 human ensembl 70_37 +1 known missense c.996 p.I332M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 56 32 36.36 98 0 0.00 SLC25A3 5250 genome.wustl.edu 37 12 98995275 98995275 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 98995275 98995275 C G SNP SLC25A3 ENST00000228318 human ensembl 70_37 +1 known missense c.1058 p.S353C 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 28 10 25.64 66 0 0.00 SLC25A30 253512 genome.wustl.edu 37 13 45971465 45971465 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 45971465 45971465 C T SNP SLC25A30 ENST00000519676 human ensembl 70_37 -1 known silent c.762 p.K254 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 22 13 37.14 29 0 0.00 SLC25A30 253512 genome.wustl.edu 37 13 45975286 45975286 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 45975286 45975286 G C SNP SLC25A30 ENST00000519676 human ensembl 70_37 -1 known silent c.546 p.V182 0.999 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 25 13 34.21 31 0 0.00 SLC25A32 81034 genome.wustl.edu 37 8 104413815 104413815 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 104413815 104413815 G A SNP SLC25A32 ENST00000297578 human ensembl 70_37 -1 known silent c.741 p.V247 0.989 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 23 23 50.00 40 0 0.00 SLC25A32 81034 genome.wustl.edu 37 8 104427124 104427124 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 104427124 104427124 C T SNP SLC25A32 ENST00000297578 human ensembl 70_37 -1 known nonsense c.42 p.W14* 0.397 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 40 28 41.18 71 0 0.00 SLC25A33 84275 genome.wustl.edu 37 1 9630370 9630370 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 9630370 9630370 C T SNP SLC25A33 ENST00000302692 human ensembl 70_37 +1 known silent c.369 p.F123 0.992 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A33 HGNC ENSG00000171612 82 11 11.83 77 0 0.00 SLC25A34 284723 genome.wustl.edu 37 1 16064484 16064484 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16064484 16064484 C G SNP SLC25A34 ENST00000294454 human ensembl 70_37 +1 known missense c.439 p.H147D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A34 HGNC ENSG00000162461 33 30 47.62 53 0 0.00 SLC25A35 399512 genome.wustl.edu 37 17 8194264 8194264 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 8194264 8194264 G A SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known silent c.625 p.L209 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 19 8 29.63 37 0 0.00 SLC25A35 399512 genome.wustl.edu 37 17 8197763 8197763 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 8197763 8197763 G A SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known silent c.363 p.S121 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 4 12 75.00 29 0 0.00 SLC25A35 399512 genome.wustl.edu 37 17 8197858 8197858 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 8197858 8197858 C T SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known missense c.268 p.G90R 0.110 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 14 18 56.25 32 0 0.00 SLC25A36 55186 genome.wustl.edu 37 3 140692697 140692697 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 140692697 140692697 G C SNP SLC25A36 ENST00000324194 human ensembl 70_37 +1 known missense c.592 p.E198Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 33 7 17.50 28 0 0.00 SLC25A37 51312 genome.wustl.edu 37 8 23429092 23429092 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 23429092 23429092 C T SNP SLC25A37 ENST00000519973 human ensembl 70_37 +1 known silent c.741 p.L247 0.047 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 25 22 46.81 54 0 0.00 SLC25A37 51312 genome.wustl.edu 37 8 23429135 23429135 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 23429135 23429135 C T SNP SLC25A37 ENST00000519973 human ensembl 70_37 +1 known silent c.784 p.L262 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 35 13 27.08 48 0 0.00 SLC25A38 54977 genome.wustl.edu 37 3 39433016 39433016 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 39433016 39433016 C G SNP SLC25A38 ENST00000273158 human ensembl 70_37 +1 known missense c.361 p.P121A 0.994 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 26 34 56.67 71 0 0.00 SLC25A39 51629 genome.wustl.edu 37 17 42397999 42397999 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42397999 42397999 G C SNP SLC25A39 ENST00000377095 human ensembl 70_37 -1 known missense c.792 p.I264M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 14 15 51.72 26 0 0.00 SLC25A39 51629 genome.wustl.edu 37 17 42400685 42400685 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 42400685 42400685 G A SNP SLC25A39 ENST00000377095 human ensembl 70_37 -1 known missense c.112 p.R38C 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 26 23 46.94 37 0 0.00 SLC25A3P1 163742 genome.wustl.edu 37 1 53903859 53903859 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 53903859 53903859 G A SNP SLC25A3P1 ENST00000566100 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 41 6 12.77 23 0 0.00 SLC25A3P1 163742 genome.wustl.edu 37 1 53904244 53904244 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 53904244 53904244 G A SNP SLC25A3P1 ENST00000566100 human ensembl 70_37 -1 known rna NULL NULL 0.762 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 24 20 45.45 37 0 0.00 SLC25A4 291 genome.wustl.edu 37 4 186064507 186064507 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 186064507 186064507 G A SNP SLC25A4 ENST00000515584 human ensembl 70_37 +1 putative rna NULL NULL 0.227 - - - no_errors SLC25A4 HGNC ENSG00000151729 28 7 20.00 42 0 0.00 SLC25A40 55972 genome.wustl.edu 37 7 87487978 87487978 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 87487978 87487978 G C SNP SLC25A40 ENST00000341119 human ensembl 70_37 -1 known nonsense c.65 p.S22* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A40 HGNC ENSG00000075303 36 11 23.40 54 0 0.00 SLC25A41 284427 genome.wustl.edu 37 19 6426421 6426421 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 6426421 6426421 C T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.1092 p.M364I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 44 30 40.54 76 0 0.00 SLC25A41 284427 genome.wustl.edu 37 19 6426429 6426429 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 6426429 6426429 C T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.1084 p.E362K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 44 30 40.54 74 0 0.00 SLC25A41 284427 genome.wustl.edu 37 19 6433595 6433595 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 6433595 6433595 G T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.110 p.P37H 0.068 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 51 6 10.53 55 0 0.00 SLC25A41 284427 genome.wustl.edu 37 19 6433680 6433680 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 6433680 6433680 G C SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.25 p.Q9E 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 27 16 37.21 61 0 0.00 SLC25A41 284427 genome.wustl.edu 37 19 6433695 6433695 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 6433695 6433695 G A SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known nonsense c.10 p.Q4* 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 22 8 26.67 47 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19206970 19206970 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 19206970 19206970 C A SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known missense c.37 p.H13N 0.033 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 56 29 33.72 71 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19216387 19216387 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19216387 19216387 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.231 p.L77 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 44 10 18.52 75 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 19221580 19221580 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 10 19 65.52 32 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 19221580 19221580 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 5 16 76.19 22 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 19221580 19221580 C T SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 21 14 40.00 57 0 0.00 SLC25A42 284439 genome.wustl.edu 37 19 19221592 19221592 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 19221592 19221592 G C SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known missense c.864 p.L288F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 66 12 15.38 81 0 0.00 SLC25A43 203427 genome.wustl.edu 37 X 118588170 118588170 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 118588170 118588170 C G SNP SLC25A43 ENST00000488158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A43 HGNC ENSG00000077713 39 13 25.00 52 0 0.00 SLC25A44 9673 genome.wustl.edu 37 1 156163946 156163946 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156163946 156163946 C T SNP SLC25A44 ENST00000468973 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC25A44 HGNC ENSG00000160785 54 28 34.15 36 0 0.00 SLC25A44 9673 genome.wustl.edu 37 1 156169884 156169884 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156169884 156169884 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known silent c.246 p.F82 0.999 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 19 3 13.64 15 0 0.00 SLC25A44 9673 genome.wustl.edu 37 1 156177684 156177684 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 156177684 156177684 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known silent c.633 p.L211 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 63 15 19.23 53 0 0.00 SLC25A44 9673 genome.wustl.edu 37 1 156177734 156177734 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 156177734 156177734 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known missense c.683 p.S228L 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 35 29 45.31 98 0 0.00 SLC25A44 9673 genome.wustl.edu 37 1 156177791 156177791 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 156177791 156177791 G A SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known missense c.740 p.R247Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 39 5 10.87 51 0 0.00 SLC25A46 91137 genome.wustl.edu 37 5 110089020 110089020 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 110089020 110089020 A T SNP SLC25A46 ENST00000513706 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors SLC25A46 HGNC ENSG00000164209 40 7 14.89 34 0 0.00 SLC25A46 91137 genome.wustl.edu 37 5 110091080 110091080 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 110091080 110091080 G C SNP SLC25A46 ENST00000513706 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC25A46 HGNC ENSG00000164209 94 24 20.17 94 0 0.00 SLC25A47 283600 genome.wustl.edu 37 14 100792566 100792566 + Splice_Site SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 100792566 100792566 G A SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known splice_site c.144+1 e3+1 1.000 - - - no_errors SLC25A47 HGNC ENSG00000140107 44 29 39.73 86 0 0.00 SLC25A47 283600 genome.wustl.edu 37 14 100795252 100795252 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 100795252 100795252 G A SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 71 32 31.07 93 0 0.00 SLC25A47 283600 genome.wustl.edu 37 14 100795778 100795778 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 100795778 100795778 C G SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known missense c.723 p.I241M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 42 35 45.45 99 0 0.00 SLC25A5 292 genome.wustl.edu 37 X 118603742 118603742 + Missense_Mutation SNP A A C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 118603742 118603742 A C SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.230 p.N77T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 76 12 13.64 80 0 0.00 SLC25A5 292 genome.wustl.edu 37 X 118603747 118603747 + Missense_Mutation SNP A A T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 118603747 118603747 A T SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.235 p.I79F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 77 12 13.48 79 0 0.00 SLC25A5 292 genome.wustl.edu 37 X 118603747 118603747 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 118603747 118603747 A T SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.235 p.I79F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 53 6 10.17 49 0 0.00 SLC25A5 292 genome.wustl.edu 37 X 118604462 118604462 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 118604462 118604462 C G SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known nonsense c.725 p.S242* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 20 6 23.08 41 0 0.00 SLC25A5 292 genome.wustl.edu 37 X 118604982 118604982 + Missense_Mutation SNP T T G TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 118604982 118604982 T G SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.858 p.F286L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 25 18 41.86 49 0 0.00 SLC25A51 92014 genome.wustl.edu 37 9 37888412 37888412 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 37888412 37888412 C T SNP SLC25A51 ENST00000242275 human ensembl 70_37 -1 known missense c.136 p.A46T 0.182 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 65 21 24.42 146 0 0.00 SLC25A52 147407 genome.wustl.edu 37 18 29340254 29340254 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 29340254 29340254 G A SNP SLC25A52 ENST00000269205 human ensembl 70_37 -1 known missense c.401 p.A134V 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 58 34 36.96 86 0 0.00 SLC25A53 401612 genome.wustl.edu 37 X 103349718 103349718 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 103349718 103349718 G C SNP SLC25A53 ENST00000357421 human ensembl 70_37 -1 known missense c.223 p.Q75E 0.180 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 32 25 43.86 64 0 0.00 SLC25A6 293 genome.wustl.edu 37 X 1508324 1508324 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 1508324 1508324 G A SNP SLC25A6 ENST00000381401 human ensembl 70_37 -1 known silent c.408 p.F136 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 80 10 10.99 146 0 0.00 SLC25A6 293 genome.wustl.edu 37 X 1508375 1508375 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 1508375 1508375 G A SNP SLC25A6 ENST00000381401 human ensembl 70_37 -1 known silent c.357 p.S119 0.689 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 75 20 21.05 104 0 0.00 SLC26A1 10861 genome.wustl.edu 37 4 983041 983041 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 983041 983041 C A SNP SLC26A1 ENST00000361661 human ensembl 70_37 -1 known silent c.1686 p.T562 0.007 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 6 3 33.33 35 0 0.00 SLC26A1 10861 genome.wustl.edu 37 4 983329 983329 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 983329 983329 C T SNP SLC26A1 ENST00000361661 human ensembl 70_37 -1 known missense c.1398 p.M466I 0.799 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 10 9 47.37 10 0 0.00 SLC26A10 65012 genome.wustl.edu 37 12 58019065 58019065 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 58019065 58019065 C T SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known silent c.1425 p.T475 0.806 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 28 10 26.32 27 0 0.00 SLC26A10 65012 genome.wustl.edu 37 12 58019065 58019065 + Silent SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 58019065 58019065 C T SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known silent c.1425 p.T475 0.806 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 63 50 44.25 128 0 0.00 SLC26A10 65012 genome.wustl.edu 37 12 58019078 58019078 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 58019078 58019078 G A SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known missense c.1438 p.A480T 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 10 12 54.55 24 0 0.00 SLC26A11 284129 genome.wustl.edu 37 17 78196495 78196495 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78196495 78196495 C T SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known silent c.276 p.F92 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 35 31 46.97 56 0 0.00 SLC26A11 284129 genome.wustl.edu 37 17 78196636 78196636 + Silent SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78196636 78196636 C G SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known silent c.417 p.V139 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 35 21 37.50 58 0 0.00 SLC26A11 284129 genome.wustl.edu 37 17 78196986 78196986 + RNA SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 78196986 78196986 C G SNP SLC26A11 ENST00000571602 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC26A11 HGNC ENSG00000181045 26 9 25.71 30 0 0.00 SLC26A11 284129 genome.wustl.edu 37 17 78211333 78211333 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 78211333 78211333 G A SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known missense c.925 p.G309R 0.999 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 18 4 18.18 32 0 0.00 SLC26A11 284129 genome.wustl.edu 37 17 78222034 78222034 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 78222034 78222034 C G SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known missense c.1400 p.S467C 0.014 superfamily_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 28 18 39.13 63 0 0.00 SLC26A2 1836 genome.wustl.edu 37 5 149360293 149360293 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149360293 149360293 T C SNP SLC26A2 ENST00000286298 human ensembl 70_37 +1 known silent c.1137 p.I379 0.993 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 11 14 56.00 49 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107423751 107423751 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 107423751 107423751 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.1018 p.V340I 0.018 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 13 15 53.57 40 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107431506 107431506 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 107431506 107431506 G C SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.557 p.S186C 0.982 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 27 7 20.59 47 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107431574 107431574 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 107431574 107431574 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known silent c.489 p.S163 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 20 24 54.55 31 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107431638 107431638 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 107431638 107431638 G A SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.425 p.S142L 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 67 8 10.67 60 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107434305 107434305 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 107434305 107434305 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known silent c.153 p.K51 0.991 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 70 34 32.69 99 0 0.00 SLC26A3 1811 genome.wustl.edu 37 7 107434312 107434312 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 107434312 107434312 T C SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.146 p.K49R 0.998 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 36 21 36.84 69 0 0.00 SLC26A4 5172 genome.wustl.edu 37 7 107303837 107303837 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 107303837 107303837 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known silent c.261 p.D87 0.668 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 37 20 35.09 61 0 0.00 SLC26A4 5172 genome.wustl.edu 37 7 107312607 107312607 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 107312607 107312607 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.329 p.A110V 0.998 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 49 23 31.94 50 0 0.00 SLC26A4 5172 genome.wustl.edu 37 7 107314773 107314773 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 107314773 107314773 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known silent c.580 p.L194 0.985 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 40 7 14.89 69 0 0.00 SLC26A4 5172 genome.wustl.edu 37 7 107338524 107338524 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 107338524 107338524 G T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.1582 p.D528Y 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 37 28 43.08 63 0 0.00 SLC26A4 5172 genome.wustl.edu 37 7 107342344 107342344 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 107342344 107342344 G A SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.1876 p.E626K 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 30 18 37.50 26 0 0.00 SLC26A5 375611 genome.wustl.edu 37 7 103030907 103030907 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 103030907 103030907 G C SNP SLC26A5 ENST00000306312 human ensembl 70_37 -1 known missense c.1280 p.A427G 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 114 33 22.45 165 0 0.00 SLC26A6 65010 genome.wustl.edu 37 3 48663652 48663652 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 48663652 48663652 G A SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known missense c.2264 p.S755L 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 15 8 34.78 24 0 0.00 SLC26A6 65010 genome.wustl.edu 37 3 48667573 48667573 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 48667573 48667573 G A SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known silent c.1344 p.I448 0.008 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 102 33 24.44 140 0 0.00 SLC26A6 65010 genome.wustl.edu 37 3 48670795 48670795 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 48670795 48670795 G T SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known missense c.211 p.L71M 0.698 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 30 4 11.76 32 0 0.00 SLC26A7 115111 genome.wustl.edu 37 8 92374634 92374634 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92374634 92374634 A G SNP SLC26A7 ENST00000309536 human ensembl 70_37 +1 known silent c.1368 p.G456 0.999 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 58 41 41.41 190 0 0.00 SLC26A7 115111 genome.wustl.edu 37 8 92375748 92375748 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 92375748 92375748 G A SNP SLC26A7 ENST00000309536 human ensembl 70_37 +1 known silent c.1470 p.V490 1.000 superfamily_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 51 64 55.65 52 0 0.00 SLC26A8 116369 genome.wustl.edu 37 6 35911729 35911729 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 35911729 35911729 C T SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.2861 p.R954H 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 26 15 36.59 76 0 0.00 SLC26A8 116369 genome.wustl.edu 37 6 35927343 35927343 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 35927343 35927343 T A SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.1757 p.K586I 0.731 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 45 113 71.52 115 0 0.00 SLC26A8 116369 genome.wustl.edu 37 6 35928783 35928783 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35928783 35928783 C T SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.1555 p.V519I 0.499 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 85 19 18.27 107 0 0.00 SLC26A9 115019 genome.wustl.edu 37 1 205890709 205890709 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 205890709 205890709 G C SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known missense c.2040 p.I680M 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 31 19 38.00 59 0 0.00 SLC26A9 115019 genome.wustl.edu 37 1 205892288 205892288 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 205892288 205892288 C T SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known silent c.1695 p.K565 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 18 22 55.00 55 0 0.00 SLC26A9 115019 genome.wustl.edu 37 1 205897082 205897082 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 205897082 205897082 G A SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known missense c.1049 p.A350V 0.999 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 27 38 57.58 77 0 0.00 SLC27A1 376497 genome.wustl.edu 37 19 17597707 17597707 + Missense_Mutation SNP C C G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 19 17597707 17597707 C G SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known missense c.503 p.A168G 0.029 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 10 5 33.33 9 0 0.00 SLC27A1 376497 genome.wustl.edu 37 19 17598092 17598092 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 17598092 17598092 G A SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known silent c.672 p.L224 0.962 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 50 15 22.73 42 0 0.00 SLC27A1 376497 genome.wustl.edu 37 19 17599875 17599875 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17599875 17599875 G T SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known missense c.945 p.K315N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 43 14 24.56 84 0 0.00 SLC27A1 376497 genome.wustl.edu 37 19 17611439 17611439 + Nonsense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 17611439 17611439 C G SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known nonsense c.1469 p.S490* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 28 19 40.43 37 0 0.00 SLC27A2 11001 genome.wustl.edu 37 15 50489719 50489719 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 50489719 50489719 G C SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.501 p.E167D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 20 7 25.93 38 0 0.00 SLC27A2 11001 genome.wustl.edu 37 15 50521170 50521170 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 50521170 50521170 G A SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1486 p.E496K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 62 19 23.46 62 0 0.00 SLC27A2 11001 genome.wustl.edu 37 15 50526076 50526076 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 50526076 50526076 C T SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1567 p.R523C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 55 14 20.00 38 0 0.00 SLC27A2 11001 genome.wustl.edu 37 15 50528249 50528249 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 50528249 50528249 G A SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1819 p.E607K 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 34 16 32.00 55 0 0.00 SLC27A3 11000 genome.wustl.edu 37 1 153750818 153750818 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 153750818 153750818 C A SNP SLC27A3 ENST00000368661 human ensembl 70_37 +1 known missense c.1484 p.S495Y 0.994 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 44 16 26.67 43 0 0.00 SLC27A3 11000 genome.wustl.edu 37 1 153752449 153752449 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 153752449 153752449 G A SNP SLC27A3 ENST00000368661 human ensembl 70_37 +1 known missense c.2164 p.A722T 0.384 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 24 13 35.14 17 0 0.00 SLC27A3 11000 genome.wustl.edu 37 1 153752449 153752449 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 153752449 153752449 G A SNP SLC27A3 ENST00000368661 human ensembl 70_37 +1 known missense c.2164 p.A722T 0.384 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 6 9 56.25 14 0 0.00 SLC27A4 10999 genome.wustl.edu 37 9 131105558 131105558 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131105558 131105558 C G SNP SLC27A4 ENST00000300456 human ensembl 70_37 +1 known missense c.147 p.I49M 0.355 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 85 52 37.96 128 1 0.78 SLC27A4 10999 genome.wustl.edu 37 9 131118060 131118060 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 131118060 131118060 G C SNP SLC27A4 ENST00000300456 human ensembl 70_37 +1 known missense c.1759 p.E587Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 47 14 22.95 48 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59010279 59010279 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 59010279 59010279 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.1769 p.C590S 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 59 32 34.78 83 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59010559 59010559 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 59010559 59010559 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.1696 p.E566K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 41 43 51.19 59 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59010588 59010588 + Splice_Site SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 59010588 59010588 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known splice_site c.1668-1 e8-1 0.997 - - - no_errors SLC27A5 HGNC ENSG00000083807 35 5 12.50 34 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59021320 59021320 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 59021320 59021320 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.951 p.K317N 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 39 29 42.65 78 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59021339 59021339 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 59021339 59021339 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.932 p.R311Q 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 25 19 43.18 69 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59022833 59022833 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 59022833 59022833 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.490 p.G164R 0.050 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 19 8 29.63 36 0 0.00 SLC27A5 10998 genome.wustl.edu 37 19 59022902 59022902 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 59022902 59022902 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.421 p.G141S 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 33 4 10.81 26 0 0.00 SLC27A6 28965 genome.wustl.edu 37 5 128368800 128368800 + Missense_Mutation SNP A A G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 128368800 128368800 A G SNP SLC27A6 ENST00000262462 human ensembl 70_37 +1 known missense c.1685 p.E562G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 23 11 32.35 25 0 0.00 SLC28A1 9154 genome.wustl.edu 37 15 85438326 85438326 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 85438326 85438326 C T SNP SLC28A1 ENST00000286749 human ensembl 70_37 +1 known missense c.433 p.H145Y 0.019 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 26 15 36.59 94 0 0.00 SLC28A1 9154 genome.wustl.edu 37 15 85451977 85451977 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 85451977 85451977 C T SNP SLC28A1 ENST00000286749 human ensembl 70_37 +1 known missense c.746 p.S249F 1.000 pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 54 14 20.59 89 0 0.00 SLC28A1 9154 genome.wustl.edu 37 15 85476463 85476463 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 85476463 85476463 G A SNP SLC28A1 ENST00000286749 human ensembl 70_37 +1 known missense c.1171 p.E391K 1.000 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 23 18 43.90 79 0 0.00 SLC28A2 9153 genome.wustl.edu 37 15 45559935 45559935 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 45559935 45559935 G A SNP SLC28A2 ENST00000347644 human ensembl 70_37 +1 known silent c.1140 p.A380 0.328 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 69 17 19.77 54 0 0.00 SLC28A3 64078 genome.wustl.edu 37 9 86900261 86900261 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 86900261 86900261 G T SNP SLC28A3 ENST00000376238 human ensembl 70_37 -1 known nonsense c.1646 p.S549* 0.997 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 27 6 18.18 32 0 0.00 SLC29A1 2030 genome.wustl.edu 37 6 44197428 44197428 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44197428 44197428 G C SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known missense c.451 p.E151Q 0.001 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 6 3 33.33 13 0 0.00 SLC29A1 2030 genome.wustl.edu 37 6 44197647 44197647 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 6 44197647 44197647 C T SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known silent c.555 p.I185 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 28 14 33.33 34 0 0.00 SLC29A1 2030 genome.wustl.edu 37 6 44197920 44197920 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44197920 44197920 G A SNP SLC29A1 ENST00000472176 human ensembl 70_37 +1 known rna NULL NULL 0.159 - - - no_errors SLC29A1 HGNC ENSG00000112759 30 12 27.91 25 0 0.00 SLC29A1 2030 genome.wustl.edu 37 6 44199824 44199824 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 44199824 44199824 C T SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known silent c.1191 p.I397 0.123 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 35 5 12.50 50 0 0.00 SLC29A1 2030 genome.wustl.edu 37 6 44201202 44201202 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 44201202 44201202 C T SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known silent c.1545 p.F515 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 44 26 37.14 74 0 0.00 SLC29A2 3177 genome.wustl.edu 37 11 66130959 66130959 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 66130959 66130959 A G SNP SLC29A2 ENST00000357440 human ensembl 70_37 -1 known missense c.1319 p.L440P 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 34 4 10.53 33 0 0.00 SLC29A3 55315 genome.wustl.edu 37 10 73115968 73115968 + Silent SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 73115968 73115968 C G SNP SLC29A3 ENST00000373189 human ensembl 70_37 +1 known silent c.741 p.L247 0.924 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 55 25 31.25 105 0 0.00 SLC29A3 55315 genome.wustl.edu 37 10 73122362 73122362 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 73122362 73122362 C G SNP SLC29A3 ENST00000373189 human ensembl 70_37 +1 known missense c.1425 p.I475M 1.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 12 5 29.41 14 0 0.00 SLC29A4 222962 genome.wustl.edu 37 7 5327568 5327568 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5327568 5327568 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.121 p.Q41E 0.078 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 47 33 41.25 83 0 0.00 SLC29A4 222962 genome.wustl.edu 37 7 5331358 5331358 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5331358 5331358 C A SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known silent c.450 p.I150 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 92 21 18.58 117 0 0.00 SLC29A4 222962 genome.wustl.edu 37 7 5340136 5340136 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 5340136 5340136 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.1293 p.F431L 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 112 51 31.29 202 0 0.00 SLC29A4 222962 genome.wustl.edu 37 7 5340178 5340178 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5340178 5340178 C A SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.1335 p.H445Q 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 120 105 46.67 199 0 0.00 SLC29A4 222962 genome.wustl.edu 37 7 5342455 5342455 + Nonsense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 5342455 5342455 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known nonsense c.1478 p.S493* 0.999 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 38 11 22.45 97 0 0.00 SLC2A1 6513 genome.wustl.edu 37 1 43392500 43392500 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 43392500 43392500 G A SNP SLC2A1 ENST00000475162 human ensembl 70_37 -1 known rna NULL NULL 0.668 - - - no_errors SLC2A1 HGNC ENSG00000117394 14 12 46.15 33 0 0.00 SLC2A1 6513 genome.wustl.edu 37 1 43392510 43392510 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 43392510 43392510 G A SNP SLC2A1 ENST00000475162 human ensembl 70_37 -1 known rna NULL NULL 0.078 - - - no_errors SLC2A1 HGNC ENSG00000117394 14 12 46.15 36 0 0.00 SLC2A1 6513 genome.wustl.edu 37 1 43395578 43395578 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43395578 43395578 G C SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known silent c.645 p.L215 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 42 27 39.13 50 0 0.00 SLC2A1 6513 genome.wustl.edu 37 1 43395647 43395647 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 43395647 43395647 G A SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known silent c.576 p.I192 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 37 9 19.57 37 0 0.00 SLC2A1 6513 genome.wustl.edu 37 1 43396313 43396313 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 43396313 43396313 C A SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known missense c.500 p.G167V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 10 8 44.44 40 0 0.00 SLC2A11 66035 genome.wustl.edu 37 22 24227028 24227028 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 22 24227028 24227028 G T SNP SLC2A11 ENST00000398356 human ensembl 70_37 +1 known nonsense c.1504 p.E502* 0.439 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A11 HGNC ENSG00000133460 28 4 12.50 24 0 0.00 SLC2A12 154091 genome.wustl.edu 37 6 134349710 134349710 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 134349710 134349710 G C SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known nonsense c.1253 p.S418* 0.001 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 43 24 35.82 67 0 0.00 SLC2A12 154091 genome.wustl.edu 37 6 134350293 134350293 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 134350293 134350293 G T SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known missense c.670 p.L224M 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 9 6 40.00 9 0 0.00 SLC2A12 154091 genome.wustl.edu 37 6 134350492 134350492 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 134350492 134350492 C A SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known missense c.471 p.E157D 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 17 13 43.33 33 0 0.00 SLC2A13 114134 genome.wustl.edu 37 12 40422238 40422238 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 40422238 40422238 G A SNP SLC2A13 ENST00000280871 human ensembl 70_37 -1 known nonsense c.790 p.R264* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 12 4 25.00 26 0 0.00 SLC2A2 6514 genome.wustl.edu 37 3 170716153 170716153 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170716153 170716153 C G SNP SLC2A2 ENST00000314251 human ensembl 70_37 -1 known missense c.1203 p.M401I 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 27 8 22.86 11 0 0.00 SLC2A3 6515 genome.wustl.edu 37 12 8085688 8085688 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 8085688 8085688 G C SNP SLC2A3 ENST00000075120 human ensembl 70_37 -1 known missense c.164 p.S55C 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 205 28 12.02 229 0 0.00 SLC2A4RG 56731 genome.wustl.edu 37 20 62374737 62374737 + RNA SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 62374737 62374737 T G SNP SLC2A4RG ENST00000473157 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A4RG HGNC ENSG00000125520 55 21 27.63 95 0 0.00 SLC2A6 11182 genome.wustl.edu 37 9 136338667 136338667 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136338667 136338667 G A SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.1092 p.P364 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 67 26 27.66 49 0 0.00 SLC2A6 11182 genome.wustl.edu 37 9 136340663 136340663 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 136340663 136340663 G C SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.633 p.L211 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 17 7 29.17 35 0 0.00 SLC2A6 11182 genome.wustl.edu 37 9 136343502 136343502 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 136343502 136343502 G A SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.129 p.F43 0.987 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 113 20 15.04 85 0 0.00 SLC2A8 29988 genome.wustl.edu 37 9 130164919 130164919 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 130164919 130164919 G A SNP SLC2A8 ENST00000373371 human ensembl 70_37 +1 known missense c.610 p.E204K 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 114 23 16.79 127 0 0.00 SLC2A8 29988 genome.wustl.edu 37 9 130166349 130166349 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130166349 130166349 G A SNP SLC2A8 ENST00000485806 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors SLC2A8 HGNC ENSG00000136856 22 16 42.11 37 0 0.00 SLC2A8 29988 genome.wustl.edu 37 9 130167088 130167088 + RNA SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 130167088 130167088 C T SNP SLC2A8 ENST00000485806 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A8 HGNC ENSG00000136856 61 27 30.68 108 0 0.00 SLC2A8 29988 genome.wustl.edu 37 9 130167187 130167187 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 130167187 130167187 C T SNP SLC2A8 ENST00000373371 human ensembl 70_37 +1 known missense c.1067 p.S356L 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 93 48 34.04 149 0 0.00 SLC2A9 56606 genome.wustl.edu 37 4 9836556 9836556 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 9836556 9836556 G A SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known silent c.1368 p.T456 0.553 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 26 7 21.21 21 0 0.00 SLC2A9 56606 genome.wustl.edu 37 4 9982227 9982227 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 9982227 9982227 G A SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known silent c.670 p.L224 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 14 7 33.33 21 0 0.00 SLC2A9 56606 genome.wustl.edu 37 4 9987312 9987312 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 9987312 9987312 G T SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known missense c.516 p.F172L 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 22 4 15.38 40 0 0.00 SLC30A1 7779 genome.wustl.edu 37 1 211748962 211748962 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 211748962 211748962 A G SNP SLC30A1 ENST00000367001 human ensembl 70_37 -1 known missense c.1292 p.V431A 0.784 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 33 17 34.00 62 0 0.00 SLC30A1 7779 genome.wustl.edu 37 1 211749179 211749179 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 211749179 211749179 C G SNP SLC30A1 ENST00000367001 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 36 4 10.00 20 0 0.00 SLC30A10 55532 genome.wustl.edu 37 1 220091631 220091631 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220091631 220091631 C T SNP SLC30A10 ENST00000366926 human ensembl 70_37 -1 known silent c.924 p.Q308 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 26 7 21.21 23 0 0.00 SLC30A10 55532 genome.wustl.edu 37 1 220100374 220100374 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 220100374 220100374 G A SNP SLC30A10 ENST00000366926 human ensembl 70_37 -1 known silent c.714 p.I238 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 33 6 15.38 66 0 0.00 SLC30A2 7780 genome.wustl.edu 37 1 26368273 26368273 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 26368273 26368273 G A SNP SLC30A2 ENST00000374276 human ensembl 70_37 -1 known silent c.756 p.P252 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 32 17 34.69 74 0 0.00 SLC30A3 7781 genome.wustl.edu 37 2 27480103 27480103 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27480103 27480103 G A SNP SLC30A3 ENST00000233535 human ensembl 70_37 -1 known silent c.696 p.V232 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 28 23 45.10 42 0 0.00 SLC30A3 7781 genome.wustl.edu 37 2 27485720 27485720 + Frame_Shift_Del DEL G G - TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 27485720 27485720 G - DEL SLC30A3 ENST00000233535 human ensembl 70_37 -1 known frame_shift_del c.55 p.R19fs 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 4 2 33.33 11 0 0.00 SLC30A4 7782 genome.wustl.edu 37 15 45814223 45814223 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 45814223 45814223 C T SNP SLC30A4 ENST00000261867 human ensembl 70_37 -1 known silent c.330 p.V110 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 67 21 23.86 79 0 0.00 SLC30A5 64924 genome.wustl.edu 37 5 68409018 68409018 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 68409018 68409018 G C SNP SLC30A5 ENST00000396591 human ensembl 70_37 +1 known missense c.499 p.D167H 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 36 4 10.00 44 0 0.00 SLC30A5 64924 genome.wustl.edu 37 5 68417706 68417706 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 68417706 68417706 G A SNP SLC30A5 ENST00000396591 human ensembl 70_37 +1 known missense c.1755 p.M585I 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 9 12 57.14 45 0 0.00 SLC30A6 55676 genome.wustl.edu 37 2 32399192 32399192 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32399192 32399192 T C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.151 p.W51R 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 30 17 36.17 62 0 0.00 SLC30A6 55676 genome.wustl.edu 37 2 32432000 32432000 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32432000 32432000 G C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 144 35 19.55 218 0 0.00 SLC30A6 55676 genome.wustl.edu 37 2 32432000 32432000 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32432000 32432000 G C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 43 12 21.82 41 0 0.00 SLC30A6 55676 genome.wustl.edu 37 2 32445705 32445705 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 32445705 32445705 C G SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.1309 p.Q437E 0.997 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 55 50 47.62 60 0 0.00 SLC32A1 140679 genome.wustl.edu 37 20 37356217 37356217 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 37356217 37356217 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known silent c.513 p.Y171 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 40 12 23.08 32 0 0.00 SLC32A1 140679 genome.wustl.edu 37 20 37356217 37356217 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 37356217 37356217 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known silent c.513 p.Y171 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 62 16 20.25 83 0 0.00 SLC32A1 140679 genome.wustl.edu 37 20 37357017 37357017 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 37357017 37357017 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known missense c.1313 p.A438V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 82 24 22.64 91 0 0.00 SLC33A1 9197 genome.wustl.edu 37 3 155551785 155551785 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 155551785 155551785 C T SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.1009 p.E337K 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 85 17 16.67 66 0 0.00 SLC33A1 9197 genome.wustl.edu 37 3 155571018 155571018 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 3 155571018 155571018 G C SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.769 p.L257V 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 72 11 13.25 76 0 0.00 SLC33A1 9197 genome.wustl.edu 37 3 155571228 155571228 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 155571228 155571228 C T SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.559 p.E187K 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 70 10 12.50 16 0 0.00 SLC34A1 6569 genome.wustl.edu 37 5 176824801 176824801 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824801 176824801 C T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1434 p.F478 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 25 5 16.67 16 0 0.00 SLC34A1 6569 genome.wustl.edu 37 5 176824804 176824804 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 176824804 176824804 C G SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known missense c.1437 p.F479L 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 137 42 23.46 181 0 0.00 SLC34A1 6569 genome.wustl.edu 37 5 176824813 176824813 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824813 176824813 C A SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1446 p.I482 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 22 4 15.38 19 0 0.00 SLC34A1 6569 genome.wustl.edu 37 5 176824930 176824930 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824930 176824930 C T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1563 p.V521 0.962 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 35 8 18.60 33 0 0.00 SLC34A1 6569 genome.wustl.edu 37 5 176825089 176825089 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 176825089 176825089 G T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known missense c.1722 p.Q574H 0.931 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 26 5 16.13 48 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25665907 25665907 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 25665907 25665907 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.334 p.V112M 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 66 34 34.00 87 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25665934 25665934 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 25665934 25665934 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.361 p.A121T 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 26 25 49.02 102 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25677795 25677795 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 25677795 25677795 C T SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known silent c.1497 p.I499 0.403 pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 49 14 22.22 96 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25677909 25677909 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 25677909 25677909 C A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.1611 p.F537L 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 109 19 14.84 137 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25677956 25677956 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 25677956 25677956 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.1658 p.R553Q 0.294 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 69 30 30.30 140 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25677984 25677984 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 25677984 25677984 C T SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known silent c.1686 p.V562 0.005 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 28 12 30.00 65 0 0.00 SLC34A2 10568 genome.wustl.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 4 25678148 25678150 GCT - DEL SLC34A2 ENST00000382051 human ensembl 70_37 +1 known in_frame_del c.1850_1852 p.C621in_frame_del 0.353:0.958:1.000 NULL pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 30 4 11.76 48 0 0.00 SLC34A3 142680 genome.wustl.edu 37 9 140126613 140126613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 140126613 140126613 G A SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 48 7 12.73 29 0 0.00 SLC34A3 142680 genome.wustl.edu 37 9 140126613 140126613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 140126613 140126613 G A SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 85 10 10.53 107 0 0.00 SLC34A3 142680 genome.wustl.edu 37 9 140128658 140128658 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 9 140128658 140128658 C T SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known silent c.1023 p.L341 0.998 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 35 18 33.96 50 0 0.00 SLC34A3 142680 genome.wustl.edu 37 9 140128914 140128914 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 140128914 140128914 C T SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known silent c.1140 p.L380 0.749 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 25 8 24.24 27 0 0.00 SLC35A1 10559 genome.wustl.edu 37 6 88218210 88218210 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 88218210 88218210 C T SNP SLC35A1 ENST00000369552 human ensembl 70_37 +1 known missense c.647 p.S216L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 63 24 27.59 61 0 0.00 SLC35A2 7355 genome.wustl.edu 37 X 48760736 48760736 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48760736 48760736 G A SNP SLC35A2 ENST00000376529 human ensembl 70_37 -1 known missense c.580 p.H194Y 1.000 NULL pfam_Nuc_sug_transpt - no_errors SLC35A2 HGNC ENSG00000102100 70 11 13.58 79 0 0.00 SLC35A2 7355 genome.wustl.edu 37 X 48762065 48762065 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 48762065 48762065 G A SNP SLC35A2 ENST00000452555 human ensembl 70_37 -1 known missense c.1205 p.S402F 1.000 NULL pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 34 4 10.53 27 0 0.00 SLC35A3 23443 genome.wustl.edu 37 1 100483336 100483336 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 100483336 100483336 C T SNP SLC35A3 ENST00000370153 human ensembl 70_37 +1 known silent c.978 p.I326 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 16 10 38.46 46 0 0.00 SLC35A3 23443 genome.wustl.edu 37 1 100488414 100488414 + RNA SNP C C A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 100488414 100488414 C A SNP SLC35A3 ENST00000370156 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors SLC35A3 HGNC ENSG00000117620 62 13 17.33 54 0 0.00 SLC35A4 113829 genome.wustl.edu 37 5 139946203 139946203 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 139946203 139946203 G A SNP SLC35A4 ENST00000508770 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC35A4 HGNC ENSG00000176087 34 4 10.53 29 0 0.00 SLC35A4 113829 genome.wustl.edu 37 5 139947395 139947395 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 139947395 139947395 G A SNP SLC35A4 ENST00000323146 human ensembl 70_37 +1 known missense c.641 p.R214Q 0.990 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 28 32 53.33 21 0 0.00 SLC35A5 55032 genome.wustl.edu 37 3 112299501 112299501 + Silent SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 112299501 112299501 A G SNP SLC35A5 ENST00000492406 human ensembl 70_37 +1 known silent c.537 p.G179 0.910 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 46 14 23.33 30 0 0.00 SLC35A5 55032 genome.wustl.edu 37 3 112301776 112301776 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 112301776 112301776 G A SNP SLC35A5 ENST00000460713 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC35A5 HGNC ENSG00000138459 11 9 45.00 15 0 0.00 SLC35B1 10237 genome.wustl.edu 37 17 47780371 47780371 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 47780371 47780371 G T SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known missense c.876 p.S292R 0.997 pfam_UAA,pfam_DMT,pfam_DUF250 pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC ENSG00000121073 32 4 11.11 29 0 0.00 SLC35B1 10237 genome.wustl.edu 37 17 47781577 47781577 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 47781577 47781577 C T SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known silent c.651 p.L217 1.000 pfam_UAA pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC ENSG00000121073 40 15 27.27 36 0 0.00 SLC35B1 10237 genome.wustl.edu 37 17 47785258 47785258 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 47785258 47785258 G A SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known missense c.49 p.P17S 0.978 NULL pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC ENSG00000121073 23 6 20.69 24 0 0.00 SLC35B2 347734 genome.wustl.edu 37 6 44222490 44222490 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 44222490 44222490 G A SNP SLC35B2 ENST00000393812 human ensembl 70_37 -1 known missense c.1252 p.R418W 0.135 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 49 7 12.50 30 0 0.00 SLC35B3 51000 genome.wustl.edu 37 6 8413801 8413801 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 8413801 8413801 G A SNP SLC35B3 ENST00000379660 human ensembl 70_37 -1 known missense c.1187 p.T396M 1.000 NULL pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 6 17 73.91 41 0 0.00 SLC35C1 55343 genome.wustl.edu 37 11 45832868 45832868 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 45832868 45832868 G C SNP SLC35C1 ENST00000314134 human ensembl 70_37 +1 known missense c.1077 p.K359N 0.659 NULL pfam_DUF250,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 18 8 30.77 17 0 0.00 SLC35C2 51006 genome.wustl.edu 37 20 44980847 44980847 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44980847 44980847 G C SNP SLC35C2 ENST00000543605 human ensembl 70_37 -1 known missense c.767 p.S256C 1.000 pfam_DUF250,pfam_UAA pfam_DUF250,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 121 29 19.33 175 0 0.00 SLC35D1 23169 genome.wustl.edu 37 1 67512952 67512952 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 67512952 67512952 G A SNP SLC35D1 ENST00000235345 human ensembl 70_37 -1 known missense c.632 p.S211L 1.000 pfam_DUF250 pfam_DUF250 - no_errors SLC35D1 HGNC ENSG00000116704 25 15 37.50 25 0 0.00 SLC35E1 79939 genome.wustl.edu 37 19 16664393 16664393 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 16664393 16664393 C T SNP SLC35E1 ENST00000600356 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SLC35E1 HGNC ENSG00000127526 23 23 50.00 45 0 0.00 SLC35E1 79939 genome.wustl.edu 37 19 16664607 16664607 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 16664607 16664607 G C SNP SLC35E1 ENST00000595753 human ensembl 70_37 -1 known silent c.1116 p.L372 0.003 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 37 19 33.93 51 0 0.00 SLC35E1 79939 genome.wustl.edu 37 19 16683100 16683100 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 16683100 16683100 C T SNP SLC35E1 ENST00000595753 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 15 7 31.82 20 0 0.00 SLC35E2B 728661 genome.wustl.edu 37 1 1601573 1601573 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 1601573 1601573 G A SNP SLC35E2B ENST00000234800 human ensembl 70_37 -1 known missense c.725 p.S242L 1.000 pfam_DUF250,pfam_DMT,pfam_UAA pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E2B HGNC ENSG00000189339 31 13 29.55 30 0 0.00 SLC35E3 55508 genome.wustl.edu 37 12 69145963 69145963 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 69145963 69145963 C T SNP SLC35E3 ENST00000398004 human ensembl 70_37 +1 known missense c.665 p.S222F 1.000 pfam_DUF250,pfam_DMT pfam_DUF250,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 267 66 19.64 378 0 0.00 SLC35F1 222553 genome.wustl.edu 37 6 118606347 118606347 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 118606347 118606347 G A SNP SLC35F1 ENST00000360388 human ensembl 70_37 +1 known missense c.848 p.G283E 0.998 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 68 10 12.82 68 0 0.00 SLC35F1 222553 genome.wustl.edu 37 6 118635200 118635200 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 118635200 118635200 C A SNP SLC35F1 ENST00000360388 human ensembl 70_37 +1 known missense c.1012 p.L338I 1.000 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 43 20 31.75 96 0 0.00 SLC35F3 148641 genome.wustl.edu 37 1 234444857 234444857 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 234444857 234444857 C T SNP SLC35F3 ENST00000366618 human ensembl 70_37 +1 known nonsense c.619 p.R207* 1.000 NULL pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 29 11 27.50 37 0 0.00 SLC35F5 80255 genome.wustl.edu 37 2 114513965 114513965 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 114513965 114513965 G A SNP SLC35F5 ENST00000245680 human ensembl 70_37 -1 known missense c.22 p.R8C 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 72 31 30.10 41 0 0.00 SLC35G2 80723 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 70_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 20 4 16.67 22 0 0.00 SLC35G2 80723 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 70_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 16 2 11.11 19 0 0.00 SLC35G2 80723 genome.wustl.edu 37 3 136574394 136574394 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 136574394 136574394 C T SNP SLC35G2 ENST00000393079 human ensembl 70_37 +1 known silent c.1092 p.L364 0.999 pfam_DMT pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 434 127 22.64 369 1 0.27 SLC35G5 83650 genome.wustl.edu 37 8 11189300 11189300 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 11189300 11189300 G T SNP SLC35G5 ENST00000382435 human ensembl 70_37 +1 known missense c.685 p.V229L 0.938 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 75 22 22.68 87 0 0.00 SLC35G5 83650 genome.wustl.edu 37 8 11189627 11189627 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 11189627 11189627 G C SNP SLC35G5 ENST00000382435 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.993 NULL pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 92 15 14.02 104 0 0.00 SLC35G6 643664 genome.wustl.edu 37 17 7386113 7386113 + Silent SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 7386113 7386113 G A SNP SLC35G6 ENST00000412468 human ensembl 70_37 +1 known silent c.810 p.V270 0.996 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 78 31 28.44 133 0 0.00 SLC36A2 153201 genome.wustl.edu 37 5 150696422 150696422 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 150696422 150696422 C T SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.1408 p.E470K 0.000 NULL pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 43 47 52.22 80 0 0.00 SLC36A2 153201 genome.wustl.edu 37 5 150696640 150696640 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 150696640 150696640 G A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.1190 p.A397V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 48 12 20.00 27 0 0.00 SLC36A2 153201 genome.wustl.edu 37 5 150714911 150714911 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150714911 150714911 G A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known silent c.723 p.I241 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 28 10 26.32 25 0 0.00 SLC36A2 153201 genome.wustl.edu 37 5 150718698 150718698 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 150718698 150718698 C A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.448 p.V150L 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 49 22 30.99 75 0 0.00 SLC36A3 285641 genome.wustl.edu 37 5 150663650 150663650 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150663650 150663650 C A SNP SLC36A3 ENST00000377713 human ensembl 70_37 -1 known missense c.1052 p.G351V 0.996 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 18 3 14.29 38 0 0.00 SLC37A1 54020 genome.wustl.edu 37 21 43955658 43955658 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 43955658 43955658 C T SNP SLC37A1 ENST00000352133 human ensembl 70_37 +1 known silent c.348 p.L116 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 52 22 29.73 106 0 0.00 SLC37A1 54020 genome.wustl.edu 37 21 43959704 43959704 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 43959704 43959704 G C SNP SLC37A1 ENST00000352133 human ensembl 70_37 +1 known missense c.433 p.G145R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 60 18 23.08 101 0 0.00 SLC37A2 219855 genome.wustl.edu 37 11 124955860 124955860 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 124955860 124955860 G A SNP SLC37A2 ENST00000308074 human ensembl 70_37 +1 known missense c.1436 p.R479Q 0.996 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 53 26 32.91 96 0 0.00 SLC37A3 84255 genome.wustl.edu 37 7 140051159 140051159 + Missense_Mutation SNP T T G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 140051159 140051159 T G SNP SLC37A3 ENST00000326232 human ensembl 70_37 -1 known missense c.796 p.N266H 0.872 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 61 33 35.11 48 0 0.00 SLC37A3 84255 genome.wustl.edu 37 7 140051183 140051183 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 140051183 140051183 C T SNP SLC37A3 ENST00000326232 human ensembl 70_37 -1 known missense c.772 p.E258K 0.822 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 9 25 73.53 72 0 0.00 SLC37A4 2542 genome.wustl.edu 37 11 118897365 118897365 + RNA SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 118897365 118897365 C A SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC37A4 HGNC ENSG00000137700 18 4 18.18 24 0 0.00 SLC37A4 2542 genome.wustl.edu 37 11 118898959 118898959 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 118898959 118898959 A C SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC37A4 HGNC ENSG00000137700 9 6 40.00 26 0 0.00 SLC37A4 2542 genome.wustl.edu 37 11 118900036 118900036 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 118900036 118900036 G A SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 0.292 - - - no_errors SLC37A4 HGNC ENSG00000137700 40 28 41.18 69 0 0.00 SLC38A1 81539 genome.wustl.edu 37 12 46589960 46589960 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 12 46589960 46589960 C A SNP SLC38A1 ENST00000552197 human ensembl 70_37 -1 novel nonsense c.1462 p.E488* 0.001 NULL pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 10 3 23.08 25 0 0.00 SLC38A1 81539 genome.wustl.edu 37 12 46591766 46591766 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 46591766 46591766 G C SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known silent c.1200 p.L400 0.999 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 18 5 21.74 30 0 0.00 SLC38A1 81539 genome.wustl.edu 37 12 46599882 46599882 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 46599882 46599882 C G SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known silent c.627 p.L209 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 29 4 12.12 27 0 0.00 SLC38A1 81539 genome.wustl.edu 37 12 46600991 46600991 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 46600991 46600991 T G SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known missense c.510 p.K170N 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 31 7 18.42 44 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79219518 79219518 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79219518 79219518 C T SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.3198 p.P1066 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 30 12 28.57 29 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79219761 79219761 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79219761 79219761 C T SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known missense c.2955 p.M985I 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 30 8 21.05 41 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79225149 79225149 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 79225149 79225149 G A SNP SLC38A10 ENST00000288439 human ensembl 70_37 -1 known missense c.2209 p.R737W 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 14 14 50.00 66 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79226316 79226316 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 79226316 79226316 G A SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.1624 p.L542 0.013 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 14 8 36.36 38 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79234147 79234147 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 79234147 79234147 G A SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.1179 p.T393 0.913 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 19 4 17.39 18 0 0.00 SLC38A10 124565 genome.wustl.edu 37 17 79244820 79244820 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79244820 79244820 C G SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known missense c.1029 p.E343D 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 21 10 32.26 22 0 0.00 SLC38A11 151258 genome.wustl.edu 37 2 165755097 165755097 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 165755097 165755097 G A SNP SLC38A11 ENST00000409149 human ensembl 70_37 -1 known silent c.1071 p.F357 0.990 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 60 8 11.76 50 0 0.00 SLC38A11 151258 genome.wustl.edu 37 2 165772440 165772440 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 165772440 165772440 T C SNP SLC38A11 ENST00000409149 human ensembl 70_37 -1 known missense c.493 p.I165V 0.799 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 25 13 33.33 35 0 0.00 SLC38A2 54407 genome.wustl.edu 37 12 46754939 46754939 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 46754939 46754939 C G SNP SLC38A2 ENST00000256689 human ensembl 70_37 -1 known missense c.1476 p.L492F 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 52 13 20.00 81 0 0.00 SLC38A2 54407 genome.wustl.edu 37 12 46756857 46756857 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 46756857 46756857 G A SNP SLC38A2 ENST00000256689 human ensembl 70_37 -1 known missense c.1126 p.R376C 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 15 9 37.50 27 0 0.00 SLC38A2 54407 genome.wustl.edu 37 12 46759016 46759016 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 46759016 46759016 C G SNP SLC38A2 ENST00000551374 human ensembl 70_37 -1 novel missense c.34 p.E12Q 0.017 NULL pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 14 8 34.78 27 0 0.00 SLC38A3 10991 genome.wustl.edu 37 3 50251894 50251894 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 50251894 50251894 C A SNP SLC38A3 ENST00000414604 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 14 25 64.10 64 0 0.00 SLC38A3 10991 genome.wustl.edu 37 3 50252126 50252126 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50252126 50252126 C T SNP SLC38A3 ENST00000414604 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 28 6 17.65 48 0 0.00 SLC38A4 55089 genome.wustl.edu 37 12 47170786 47170786 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 47170786 47170786 G A SNP SLC38A4 ENST00000266579 human ensembl 70_37 -1 known missense c.1075 p.R359W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 32 5 13.51 25 0 0.00 SLC38A4 55089 genome.wustl.edu 37 12 47186809 47186809 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 47186809 47186809 C T SNP SLC38A4 ENST00000266579 human ensembl 70_37 -1 known missense c.46 p.E16K 0.906 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 49 18 26.87 112 0 0.00 SLC38A5 92745 genome.wustl.edu 37 X 48317943 48317943 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 48317943 48317943 G C SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.1296 p.F432L 0.001 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 30 6 16.67 31 0 0.00 SLC38A5 92745 genome.wustl.edu 37 X 48318139 48318139 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48318139 48318139 G A SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.1192 p.R398W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 19 10 34.48 34 0 0.00 SLC38A5 92745 genome.wustl.edu 37 X 48324406 48324406 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 48324406 48324406 C T SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.487 p.E163K 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 91 31 25.41 122 0 0.00 SLC38A5 92745 genome.wustl.edu 37 X 48325234 48325234 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48325234 48325234 G A SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known silent c.271 p.L91 0.976 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 39 12 23.53 51 0 0.00 SLC38A7 55238 genome.wustl.edu 37 16 58712778 58712778 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 58712778 58712778 G A SNP SLC38A7 ENST00000219320 human ensembl 70_37 -1 known silent c.291 p.I97 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 13 5 27.78 42 0 0.00 SLC38A8 146167 genome.wustl.edu 37 16 84065527 84065527 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 84065527 84065527 C T SNP SLC38A8 ENST00000299709 human ensembl 70_37 -1 known missense c.577 p.V193M 0.986 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 28 28 49.12 52 0 0.00 SLC38A9 153129 genome.wustl.edu 37 5 54948506 54948506 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 54948506 54948506 G C SNP SLC38A9 ENST00000318672 human ensembl 70_37 -1 known missense c.803 p.S268C 0.011 NULL pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 34 22 39.29 62 0 0.00 SLC38A9 153129 genome.wustl.edu 37 5 55008344 55008344 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 55008344 55008344 G T SNP SLC38A9 ENST00000504880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC38A9 HGNC ENSG00000177058 15 16 51.61 22 0 0.00 SLC38A9 153129 genome.wustl.edu 37 5 55008363 55008363 + RNA SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 55008363 55008363 G T SNP SLC38A9 ENST00000504880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC38A9 HGNC ENSG00000177058 16 5 23.81 17 0 0.00 SLC39A1 27173 genome.wustl.edu 37 1 153935074 153935074 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153935074 153935074 G A SNP SLC39A1 ENST00000310483 human ensembl 70_37 -1 known missense c.118 p.L40F 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 11 18 62.07 46 0 0.00 SLC39A10 57181 genome.wustl.edu 37 2 196573389 196573389 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 196573389 196573389 G A SNP SLC39A10 ENST00000359634 human ensembl 70_37 +1 known missense c.1396 p.G466R 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 59 12 16.90 88 0 0.00 SLC39A11 201266 genome.wustl.edu 37 17 70645373 70645373 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 70645373 70645373 G A SNP SLC39A11 ENST00000542342 human ensembl 70_37 -1 known missense c.727 p.P243S 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 7 20 74.07 34 0 0.00 SLC39A12 221074 genome.wustl.edu 37 10 18331702 18331702 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 18331702 18331702 G A SNP SLC39A12 ENST00000377369 human ensembl 70_37 +1 known silent c.2016 p.L672 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 32 7 17.95 60 0 0.00 SLC39A14 23516 genome.wustl.edu 37 8 22262421 22262421 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 22262421 22262421 C G SNP SLC39A14 ENST00000359741 human ensembl 70_37 +1 known silent c.198 p.L66 1.000 NULL pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 21 17 44.74 29 0 0.00 SLC39A3 29985 genome.wustl.edu 37 19 2732803 2732803 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 2732803 2732803 G C SNP SLC39A3 ENST00000269740 human ensembl 70_37 -1 known silent c.891 p.L297 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 84 15 15.00 93 0 0.00 SLC39A3 29985 genome.wustl.edu 37 19 2733271 2733271 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 2733271 2733271 C T SNP SLC39A3 ENST00000269740 human ensembl 70_37 -1 known silent c.423 p.A141 0.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 11 10 47.62 20 0 0.00 SLC39A5 283375 genome.wustl.edu 37 12 56625235 56625235 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 56625235 56625235 G A SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known silent c.177 p.A59 0.004 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 82 59 41.84 172 1 0.58 SLC39A5 283375 genome.wustl.edu 37 12 56629106 56629106 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 56629106 56629106 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.800 p.P267L 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 125 24 16.11 93 0 0.00 SLC39A5 283375 genome.wustl.edu 37 12 56630255 56630255 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56630255 56630255 C A SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1021 p.Q341K 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 101 56 35.67 177 0 0.00 SLC39A5 283375 genome.wustl.edu 37 12 56630940 56630940 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56630940 56630940 T C SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1295 p.F432S 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 19 12 38.71 43 0 0.00 SLC39A5 283375 genome.wustl.edu 37 12 56630958 56630958 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56630958 56630958 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1313 p.S438L 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 135 46 25.41 150 0 0.00 SLC39A5 283375 genome.wustl.edu 37 12 56631000 56631000 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56631000 56631000 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1355 p.S452F 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 99 31 23.85 111 0 0.00 SLC39A6 25800 genome.wustl.edu 37 18 33706184 33706184 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 18 33706184 33706184 C G SNP SLC39A6 ENST00000269187 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 26 8 23.53 62 0 0.00 SLC39A7 7922 genome.wustl.edu 37 6 33169070 33169070 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33169070 33169070 G A SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known silent c.48 p.L16 1.000 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 13 66 83.54 43 0 0.00 SLC39A7 7922 genome.wustl.edu 37 6 33169685 33169685 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33169685 33169685 C T SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known missense c.575 p.A192V 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 13 9 40.91 41 0 0.00 SLC39A7 7922 genome.wustl.edu 37 6 33171585 33171585 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 33171585 33171585 G C SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known missense c.1405 p.E469Q 0.999 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 6 27 81.82 31 0 0.00 SLC39A7 7922 genome.wustl.edu 37 6 33171909 33171909 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33171909 33171909 C G SNP SLC39A7 ENST00000463972 human ensembl 70_37 +1 putative rna NULL NULL 0.020 - - - no_errors SLC39A7 HGNC ENSG00000112473 43 31 41.89 73 0 0.00 SLC39A8 64116 genome.wustl.edu 37 4 103180638 103180638 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 103180638 103180638 G C SNP SLC39A8 ENST00000424970 human ensembl 70_37 -1 known missense c.1300 p.Q434E 0.015 NULL pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 79 18 18.56 59 0 0.00 SLC39A8 64116 genome.wustl.edu 37 4 103226232 103226232 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 103226232 103226232 C G SNP SLC39A8 ENST00000356736 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 75 19 20.21 83 0 0.00 SLC39A9 55334 genome.wustl.edu 37 14 69864945 69864945 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 69864945 69864945 C T SNP SLC39A9 ENST00000556125 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC39A9 HGNC ENSG00000029364 99 22 18.03 104 0 0.00 SLC39A9 55334 genome.wustl.edu 37 14 69864951 69864951 + RNA SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 69864951 69864951 C G SNP SLC39A9 ENST00000556125 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC39A9 HGNC ENSG00000029364 20 10 33.33 27 0 0.00 SLC3A2 6520 genome.wustl.edu 37 11 62648619 62648619 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 62648619 62648619 C T SNP SLC3A2 ENST00000377892 human ensembl 70_37 +1 known silent c.520 p.L174 0.957 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 119 31 20.67 108 0 0.00 SLC3A2 6520 genome.wustl.edu 37 11 62649362 62649362 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62649362 62649362 C T SNP SLC3A2 ENST00000457660 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors SLC3A2 HGNC ENSG00000168003 29 28 49.12 57 0 0.00 SLC3A2 6520 genome.wustl.edu 37 11 62651929 62651929 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 62651929 62651929 G A SNP SLC3A2 ENST00000377892 human ensembl 70_37 +1 known missense c.1087 p.D363N 0.750 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 47 15 24.19 72 0 0.00 SLC40A1 30061 genome.wustl.edu 37 2 190430189 190430189 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 190430189 190430189 G A SNP SLC40A1 ENST00000261024 human ensembl 70_37 -1 known silent c.651 p.C217 0.998 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 32 4 11.11 46 0 0.00 SLC40A1 30061 genome.wustl.edu 37 2 190443129 190443129 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 190443129 190443129 G A SNP SLC40A1 ENST00000418714 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC40A1 HGNC ENSG00000138449 39 23 37.10 75 0 0.00 SLC40A1 30061 genome.wustl.edu 37 2 190445311 190445311 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 190445311 190445311 C T SNP SLC40A1 ENST00000418714 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors SLC40A1 HGNC ENSG00000138449 20 5 20.00 24 0 0.00 SLC41A1 254428 genome.wustl.edu 37 1 205764045 205764045 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 205764045 205764045 G T SNP SLC41A1 ENST00000367137 human ensembl 70_37 -1 known missense c.1309 p.L437I 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 25 4 13.79 37 0 0.00 SLC41A1 254428 genome.wustl.edu 37 1 205764636 205764636 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205764636 205764636 G A SNP SLC41A1 ENST00000484228 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors SLC41A1 HGNC ENSG00000133065 30 23 42.59 52 0 0.00 SLC41A1 254428 genome.wustl.edu 37 1 205767910 205767910 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 205767910 205767910 C T SNP SLC41A1 ENST00000367137 human ensembl 70_37 -1 known missense c.731 p.R244H 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 23 16 41.03 50 0 0.00 SLC41A1 254428 genome.wustl.edu 37 1 205768158 205768158 + Silent SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 1 205768158 205768158 G A SNP SLC41A1 ENST00000367137 human ensembl 70_37 -1 known silent c.624 p.H208 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 16 6 27.27 16 0 0.00 SLC41A1 254428 genome.wustl.edu 37 1 205779628 205779628 + RNA SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 205779628 205779628 C G SNP SLC41A1 ENST00000484000 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors SLC41A1 HGNC ENSG00000133065 78 45 36.59 147 0 0.00 SLC41A2 84102 genome.wustl.edu 37 12 105321797 105321797 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 105321797 105321797 G A SNP SLC41A2 ENST00000258538 human ensembl 70_37 -1 known missense c.509 p.A170V 1.000 NULL pfam_MgtE_Mg_transptr_membr - no_errors SLC41A2 HGNC ENSG00000136052 28 7 20.00 53 0 0.00 SLC41A3 54946 genome.wustl.edu 37 3 125727581 125727581 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 125727581 125727581 C T SNP SLC41A3 ENST00000315891 human ensembl 70_37 -1 known silent c.1248 p.L416 0.977 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 14 3 17.65 24 0 0.00 SLC41A3 54946 genome.wustl.edu 37 3 125745256 125745256 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 125745256 125745256 C G SNP SLC41A3 ENST00000315891 human ensembl 70_37 -1 known missense c.520 p.E174Q 0.008 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 32 14 30.43 27 0 0.00 SLC43A1 8501 genome.wustl.edu 37 11 57256402 57256402 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 57256402 57256402 G A SNP SLC43A1 ENST00000278426 human ensembl 70_37 -1 known missense c.1396 p.L466F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 6 6 50.00 28 0 0.00 SLC43A3 29015 genome.wustl.edu 37 11 57175269 57175269 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 57175269 57175269 G C SNP SLC43A3 ENST00000352187 human ensembl 70_37 -1 known missense c.1472 p.A491G 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 29 6 17.14 17 0 0.00 SLC43A3 29015 genome.wustl.edu 37 11 57185336 57185336 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 57185336 57185336 G A SNP SLC43A3 ENST00000352187 human ensembl 70_37 -1 known missense c.556 p.L186F 0.916 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 45 11 19.64 82 0 0.00 SLC44A1 23446 genome.wustl.edu 37 9 108061569 108061569 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 108061569 108061569 C T SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known silent c.105 p.F35 0.976 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 112 32 22.22 184 1 0.54 SLC44A1 23446 genome.wustl.edu 37 9 108110672 108110672 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 108110672 108110672 C T SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.440 p.S147F 0.994 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 36 48 56.47 73 0 0.00 SLC44A1 23446 genome.wustl.edu 37 9 108128639 108128639 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 108128639 108128639 G C SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.1423 p.A475P 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 56 26 31.71 83 0 0.00 SLC44A1 23446 genome.wustl.edu 37 9 108147760 108147760 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 108147760 108147760 G C SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.1927 p.D643H 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 34 18 33.33 41 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10741799 10741799 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 19 10741799 10741799 C G SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known missense c.312 p.F104L 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 26 19 42.22 37 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10741983 10741983 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 10741983 10741983 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.363 p.L121 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 123 18 12.77 143 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10742318 10742318 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 10742318 10742318 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.519 p.F173 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 23 17 42.50 24 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10753987 10753987 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 10753987 10753987 G A SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known missense c.2047 p.E683K 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 46 7 13.21 38 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10754001 10754001 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10754001 10754001 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.2061 p.F687 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 35 18 33.96 53 0 0.00 SLC44A2 57153 genome.wustl.edu 37 19 10754060 10754060 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 10754060 10754060 G A SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.2120 p.*707 0.494 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 32 11 25.58 30 0 0.00 SLC44A3 126969 genome.wustl.edu 37 1 95293118 95293118 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 95293118 95293118 C T SNP SLC44A3 ENST00000271227 human ensembl 70_37 +1 known missense c.334 p.R112C 0.103 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 22 3 12.00 41 0 0.00 SLC44A3 126969 genome.wustl.edu 37 1 95332942 95332942 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 95332942 95332942 G A SNP SLC44A3 ENST00000271227 human ensembl 70_37 +1 known missense c.1451 p.C484Y 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 74 40 35.09 103 0 0.00 SLC44A4 80736 genome.wustl.edu 37 6 31831514 31831514 + Missense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 6 31831514 31831514 C G SNP SLC44A4 ENST00000229729 human ensembl 70_37 -1 known missense c.2023 p.E675Q 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 14 38 73.08 56 0 0.00 SLC44A4 80736 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 70_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC ENSG00000204385 10 3 23.08 14 0 0.00 SLC44A4 80736 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 70_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC ENSG00000204385 10 5 33.33 12 0 0.00 SLC44A5 204962 genome.wustl.edu 37 1 75683550 75683550 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 75683550 75683550 C T SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known splice_site c.1624+1 e17+1 1.000 - - - no_errors SLC44A5 HGNC ENSG00000137968 25 11 30.56 38 0 0.00 SLC44A5 204962 genome.wustl.edu 37 1 75699774 75699774 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 75699774 75699774 C G SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known silent c.750 p.T250 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 14 5 26.32 13 0 0.00 SLC44A5 204962 genome.wustl.edu 37 1 75702683 75702683 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 75702683 75702683 A T SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known nonsense c.729 p.Y243* 0.994 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 13 5 27.78 29 0 0.00 SLC45A1 50651 genome.wustl.edu 37 1 8390366 8390366 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 8390366 8390366 C T SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.915 p.L305 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 37 33 46.48 76 0 0.00 SLC45A1 50651 genome.wustl.edu 37 1 8399605 8399605 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 8399605 8399605 C T SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.1929 p.I643 0.961 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 25 9 25.71 32 0 0.00 SLC45A1 50651 genome.wustl.edu 37 1 8399734 8399734 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 8399734 8399734 C A SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.2058 p.L686 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 271 34 11.15 188 0 0.00 SLC45A2 51151 genome.wustl.edu 37 5 33963886 33963886 + Nonsense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 33963886 33963886 G T SNP SLC45A2 ENST00000296589 human ensembl 70_37 -1 known nonsense c.798 p.Y266* 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 39 10 20.41 37 0 0.00 SLC45A3 85414 genome.wustl.edu 37 1 205628400 205628400 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 205628400 205628400 C T SNP SLC45A3 ENST00000367145 human ensembl 70_37 -1 known missense c.1624 p.V542I 0.999 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 23 15 39.47 32 0 0.00 SLC45A3 85414 genome.wustl.edu 37 1 205632701 205632701 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 205632701 205632701 G A SNP SLC45A3 ENST00000367145 human ensembl 70_37 -1 known missense c.218 p.S73L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 51 75 59.52 69 0 0.00 SLC45A4 57210 genome.wustl.edu 37 8 142225950 142225950 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 142225950 142225950 C T SNP SLC45A4 ENST00000517878 human ensembl 70_37 -1 known missense c.1849 p.A617T 0.952 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 54 8 12.90 65 0 0.00 SLC46A2 57864 genome.wustl.edu 37 9 115652031 115652031 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 9 115652031 115652031 C T SNP SLC46A2 ENST00000374228 human ensembl 70_37 -1 known missense c.931 p.E311K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 19 46 70.77 75 0 0.00 SLC46A2 57864 genome.wustl.edu 37 9 115652152 115652152 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 115652152 115652152 A G SNP SLC46A2 ENST00000374228 human ensembl 70_37 -1 known silent c.810 p.P270 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 29 7 19.44 34 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29275325 29275325 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 29275325 29275325 C G SNP SLC46A3 ENST00000475385 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 25 7 21.88 46 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29278264 29278265 + RNA INS - - A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 29278264 29278265 - A INS SLC46A3 ENST00000475385 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 18 6 25.00 13 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29284946 29284946 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 29284946 29284946 G A SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known silent c.1095 p.F365 0.088 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 31 5 13.89 37 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29286975 29286975 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 29286975 29286975 G C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known nonsense c.902 p.S301* 0.599 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 52 18 25.00 102 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29287142 29287142 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 29287142 29287142 A C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known silent c.735 p.T245 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 7 7 50.00 21 0 0.00 SLC46A3 283537 genome.wustl.edu 37 13 29292084 29292084 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 29292084 29292084 T C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known missense c.52 p.T18A 0.000 pfam_MFS pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 19 22 53.66 64 0 0.00 SLC47A1 55244 genome.wustl.edu 37 17 19451432 19451432 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 17 19451432 19451432 C G SNP SLC47A1 ENST00000395585 human ensembl 70_37 +1 known missense c.441 p.D147E 1.000 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 45 10 18.18 45 0 0.00 SLC47A2 146802 genome.wustl.edu 37 17 19584766 19584767 + Frame_Shift_Ins INS - - C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 19584766 19584767 - C INS SLC47A2 ENST00000325411 human ensembl 70_37 -1 known frame_shift_ins c.1414_1413 p.L471fs 0.997:1.000 tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 27 16 37.21 62 0 0.00 SLC47A2 146802 genome.wustl.edu 37 17 19605921 19605921 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19605921 19605921 G C SNP SLC47A2 ENST00000325411 human ensembl 70_37 -1 known missense c.1269 p.I423M 0.919 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 38 29 43.28 52 0 0.00 SLC47A2 146802 genome.wustl.edu 37 17 19611826 19611826 + Nonsense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 19611826 19611826 G C SNP SLC47A2 ENST00000574239 human ensembl 70_37 -1 known nonsense c.572 p.S191* 0.000 NULL pfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 38 14 26.92 60 0 0.00 SLC4A1 6521 genome.wustl.edu 37 17 42335066 42335066 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 42335066 42335066 G A SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known silent c.1392 p.F464 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 47 6 11.32 30 0 0.00 SLC4A1 6521 genome.wustl.edu 37 17 42335069 42335069 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 42335069 42335069 G A SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known silent c.1389 p.G463 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 46 6 11.54 34 0 0.00 SLC4A1 6521 genome.wustl.edu 37 17 42337808 42337808 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 42337808 42337808 C G SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known missense c.449 p.R150P 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 38 24 38.71 42 0 0.00 SLC4A1 6521 genome.wustl.edu 37 17 42337837 42337837 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 42337837 42337837 G A SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known silent c.420 p.I140 0.991 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 21 8 27.59 56 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162281186 162281186 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 162281186 162281186 C T SNP SLC4A10 ENST00000482861 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC4A10 HGNC ENSG00000144290 43 23 34.85 71 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162661046 162661046 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 162661046 162661046 G A SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.218 p.R73K 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 36 37 50.68 70 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162696379 162696379 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 162696379 162696379 G T SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known nonsense c.358 p.E120* 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 23 9 28.12 53 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162757477 162757477 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 162757477 162757477 G C SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.1398 p.E466D 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 1 2 66.67 12 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162813641 162813641 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 162813641 162813641 C T SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.2684 p.S895L 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 49 20 28.99 70 0 0.00 SLC4A10 57282 genome.wustl.edu 37 2 162833298 162833298 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 162833298 162833298 G C SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.3256 p.D1086H 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 26 19 42.22 46 0 0.00 SLC4A11 83959 genome.wustl.edu 37 20 3210347 3210347 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 3210347 3210347 G C SNP SLC4A11 ENST00000380059 human ensembl 70_37 -1 known nonsense c.1694 p.S565* 0.003 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 25 5 16.13 42 0 0.00 SLC4A11 83959 genome.wustl.edu 37 20 3211114 3211114 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 3211114 3211114 G A SNP SLC4A11 ENST00000470631 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC4A11 HGNC ENSG00000088836 30 16 34.78 28 0 0.00 SLC4A11 83959 genome.wustl.edu 37 20 3214933 3214933 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3214933 3214933 C G SNP SLC4A11 ENST00000380059 human ensembl 70_37 -1 known missense c.448 p.E150Q 1.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 47 8 14.55 30 0 0.00 SLC4A1AP 22950 genome.wustl.edu 37 2 27886730 27886730 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 27886730 27886730 G C SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known missense c.111 p.K37N 0.001 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 201 48 19.28 251 0 0.00 SLC4A1AP 22950 genome.wustl.edu 37 2 27892132 27892132 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 27892132 27892132 C G SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1223 p.S408* 1.000 pfam_Ds-RNA-bd pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 351 92 20.77 393 0 0.00 SLC4A1AP 22950 genome.wustl.edu 37 2 27892132 27892132 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 27892132 27892132 C G SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1223 p.S408* 1.000 pfam_Ds-RNA-bd pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 38 9 19.15 34 0 0.00 SLC4A1AP 22950 genome.wustl.edu 37 2 27898427 27898427 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 27898427 27898427 G A SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1374 p.W458* 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 63 27 30.00 82 0 0.00 SLC4A1AP 22950 genome.wustl.edu 37 2 27905202 27905202 + Missense_Mutation SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 27905202 27905202 C A SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known missense c.1851 p.F617L 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 10 7 41.18 29 0 0.00 SLC4A2 6522 genome.wustl.edu 37 7 150768846 150768846 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150768846 150768846 C T SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known silent c.2262 p.F754 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 24 14 36.84 41 0 0.00 SLC4A2 6522 genome.wustl.edu 37 7 150771157 150771157 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150771157 150771157 C T SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known missense c.2567 p.S856L 0.440 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 30 25 45.45 65 0 0.00 SLC4A2 6522 genome.wustl.edu 37 7 150771163 150771163 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150771163 150771163 C A SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known missense c.2573 p.S858Y 0.989 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 33 26 44.07 72 0 0.00 SLC4A3 6508 genome.wustl.edu 37 2 220494063 220494063 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 220494063 220494063 G A SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 19 20 51.28 37 0 0.00 SLC4A3 6508 genome.wustl.edu 37 2 220498102 220498102 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 220498102 220498102 G C SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.1465 p.D489H 0.987 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 94 24 20.34 129 1 0.77 SLC4A3 6508 genome.wustl.edu 37 2 220502342 220502342 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220502342 220502342 G T SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known nonsense c.2656 p.E886* 0.025 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 10 12 54.55 15 0 0.00 SLC4A3 6508 genome.wustl.edu 37 2 220502408 220502408 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220502408 220502408 G T SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known nonsense c.2722 p.E908* 0.008 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 12 18 60.00 22 0 0.00 SLC4A3 6508 genome.wustl.edu 37 2 220506409 220506409 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 220506409 220506409 G A SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.3739 p.D1247N 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 54 8 12.90 77 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72102354 72102354 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 72102354 72102354 G T SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known nonsense c.61 p.E21* 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 17 7 29.17 50 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72319242 72319242 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 72319242 72319242 G C SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.1353 p.K451N 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 52 67 56.30 78 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72363244 72363245 + Frame_Shift_Ins INS - - T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 72363244 72363245 - T INS SLC4A4 ENST00000425175 human ensembl 70_37 +1 known frame_shift_ins c.2001_2002 p.L668fs 0.007:0.005 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 88 11 11.11 61 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72412243 72412243 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 72412243 72412243 G A SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known silent c.2619 p.V873 0.988 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 21 52 71.23 64 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72413402 72413402 + Missense_Mutation SNP A A T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 72413402 72413402 A T SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.2659 p.T887S 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 210 31 12.81 245 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72432749 72432749 + Frame_Shift_Del DEL C C - TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 72432749 72432749 C - DEL SLC4A4 ENST00000425175 human ensembl 70_37 +1 known frame_shift_del c.3128 p.T1044fs 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 16 2 11.11 147 0 0.00 SLC4A4 8671 genome.wustl.edu 37 4 72433560 72433560 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 72433560 72433560 G C SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.3235 p.E1079Q 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 24 4 14.29 24 0 0.00 SLC4A5 57835 genome.wustl.edu 37 2 74479361 74479361 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 74479361 74479361 C T SNP SLC4A5 ENST00000357822 human ensembl 70_37 -1 known missense c.1423 p.D475N 0.989 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 24 7 22.58 29 0 0.00 SLC4A5 57835 genome.wustl.edu 37 2 74486733 74486733 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74486733 74486733 G A SNP SLC4A5 ENST00000357822 human ensembl 70_37 -1 known silent c.849 p.L283 0.970 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 67 36 34.95 118 0 0.00 SLC4A7 9497 genome.wustl.edu 37 3 27427470 27427470 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 27427470 27427470 G A SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known silent c.3405 p.F1135 0.998 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 14 14 50.00 69 0 0.00 SLC4A7 9497 genome.wustl.edu 37 3 27427485 27427485 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 27427485 27427485 G T SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known silent c.3390 p.L1130 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 12 17 58.62 69 0 0.00 SLC4A7 9497 genome.wustl.edu 37 3 27473106 27473106 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 27473106 27473106 T C SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known missense c.833 p.N278S 1.000 pfam_HCO3_transpt_cyt pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 15 9 37.50 24 0 0.00 SLC4A7 9497 genome.wustl.edu 37 3 27493983 27493983 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 27493983 27493983 C T SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known missense c.67 p.D23N 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 26 19 42.22 28 0 0.00 SLC4A8 9498 genome.wustl.edu 37 12 51863470 51863470 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 51863470 51863470 C G SNP SLC4A8 ENST00000453097 human ensembl 70_37 +1 known silent c.1422 p.L474 0.999 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 45 22 32.84 88 0 0.00 SLC4A8 9498 genome.wustl.edu 37 12 51888824 51888824 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 51888824 51888824 C T SNP SLC4A8 ENST00000453097 human ensembl 70_37 +1 known silent c.2865 p.F955 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 88 15 14.56 49 0 0.00 SLC4A9 83697 genome.wustl.edu 37 5 139745485 139745485 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 139745485 139745485 C T SNP SLC4A9 ENST00000230993 human ensembl 70_37 +1 known missense c.1849 p.R617C 0.970 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 52 10 16.13 57 0 0.00 SLC4A9 83697 genome.wustl.edu 37 5 139745485 139745485 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 139745485 139745485 C T SNP SLC4A9 ENST00000230993 human ensembl 70_37 +1 known missense c.1849 p.R617C 0.970 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 15 12 44.44 35 0 0.00 SLC52A2 79581 genome.wustl.edu 37 8 145584267 145584267 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 145584267 145584267 G A SNP SLC52A2 ENST00000329994 human ensembl 70_37 +1 known missense c.1019 p.G340D 0.871 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 132 117 46.99 150 0 0.00 SLC52A3 113278 genome.wustl.edu 37 20 741808 741808 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 741808 741808 G C SNP SLC52A3 ENST00000217254 human ensembl 70_37 -1 known silent c.1272 p.L424 0.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 9 10 52.63 26 0 0.00 SLC52A3 113278 genome.wustl.edu 37 20 744585 744585 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 744585 744585 C T SNP SLC52A3 ENST00000217254 human ensembl 70_37 -1 known silent c.630 p.E210 0.995 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 15 14 48.28 43 0 0.00 SLC5A1 6523 genome.wustl.edu 37 22 32495249 32495249 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 22 32495249 32495249 G A SNP SLC5A1 ENST00000266088 human ensembl 70_37 +1 known missense c.1360 p.D454N 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 297 49 14.12 318 0 0.00 SLC5A11 115584 genome.wustl.edu 37 16 24873933 24873933 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 24873933 24873933 G C SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.147 p.K49N 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 62 15 19.48 78 0 0.00 SLC5A11 115584 genome.wustl.edu 37 16 24895396 24895396 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 24895396 24895396 C T SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.608 p.T203M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 23 15 39.47 33 0 0.00 SLC5A11 115584 genome.wustl.edu 37 16 24902257 24902257 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 24902257 24902257 G C SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known silent c.732 p.R244 0.864 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 178 34 15.96 223 0 0.00 SLC5A11 115584 genome.wustl.edu 37 16 24921753 24921753 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 24921753 24921753 G A SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.1777 p.V593I 0.011 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 29 13 30.95 66 0 0.00 SLC5A11 115584 genome.wustl.edu 37 16 24922824 24922824 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 24922824 24922824 C T SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known silent c.1998 p.C666 0.006 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 37 7 15.91 25 0 0.00 SLC5A12 159963 genome.wustl.edu 37 11 26705375 26705375 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 26705375 26705375 G T SNP SLC5A12 ENST00000527405 human ensembl 70_37 -1 known nonsense c.677 p.S226* 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A12 HGNC ENSG00000148942 29 15 34.09 41 0 0.00 SLC5A12 159963 genome.wustl.edu 37 11 26732861 26732861 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 26732861 26732861 G A SNP SLC5A12 ENST00000396005 human ensembl 70_37 -1 known silent c.450 p.L150 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 35 5 12.50 33 0 0.00 SLC5A2 6524 genome.wustl.edu 37 16 31496157 31496157 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 31496157 31496157 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.216 p.F72 0.997 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 47 9 16.07 77 0 0.00 SLC5A2 6524 genome.wustl.edu 37 16 31500280 31500280 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 31500280 31500280 G A SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known missense c.1360 p.D454N 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 53 37 41.11 142 1 0.70 SLC5A2 6524 genome.wustl.edu 37 16 31500316 31500316 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 16 31500316 31500316 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known missense c.1396 p.P466S 0.996 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 51 29 36.25 95 0 0.00 SLC5A2 6524 genome.wustl.edu 37 16 31500333 31500333 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 31500333 31500333 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.1413 p.F471 0.238 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 68 26 27.66 135 0 0.00 SLC5A2 6524 genome.wustl.edu 37 16 31501802 31501802 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31501802 31501802 C G SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.1965 p.L655 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 51 23 30.67 96 0 0.00 SLC5A3 6526 genome.wustl.edu 37 21 35469242 35469242 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 35469242 35469242 T G SNP SLC5A3 ENST00000381151 human ensembl 70_37 +1 known missense c.1745 p.I582S 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 21 14 40.00 43 0 0.00 SLC5A3 6526 genome.wustl.edu 37 21 35469468 35469468 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 35469468 35469468 C G SNP SLC5A3 ENST00000381151 human ensembl 70_37 +1 known missense c.1971 p.F657L 0.998 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 8 8 50.00 32 0 0.00 SLC5A4 6527 genome.wustl.edu 37 22 32625325 32625325 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 22 32625325 32625325 C G SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known missense c.1136 p.R379P 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 36 14 28.00 58 0 0.00 SLC5A4 6527 genome.wustl.edu 37 22 32630960 32630960 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 32630960 32630960 G A SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known missense c.785 p.S262F 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 45 15 25.00 51 0 0.00 SLC5A4 6527 genome.wustl.edu 37 22 32633298 32633298 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 32633298 32633298 C T SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known silent c.597 p.S199 0.065 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 28 15 34.88 67 0 0.00 SLC5A5 6528 genome.wustl.edu 37 19 18001725 18001725 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18001725 18001725 G A SNP SLC5A5 ENST00000222248 human ensembl 70_37 +1 known missense c.1682 p.G561E 0.978 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 249 85 25.45 392 0 0.00 SLC5A5 6528 genome.wustl.edu 37 19 18004651 18004651 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18004651 18004651 G A SNP SLC5A5 ENST00000222248 human ensembl 70_37 +1 known missense c.1897 p.D633N 0.001 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 47 25 34.72 63 0 0.00 SLC5A6 8884 genome.wustl.edu 37 2 27424300 27424300 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27424300 27424300 G C SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known missense c.1566 p.F522L 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 20 9 31.03 41 0 0.00 SLC5A6 8884 genome.wustl.edu 37 2 27424683 27424683 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 27424683 27424683 G C SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known silent c.1395 p.V465 0.994 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 32 7 17.95 35 0 0.00 SLC5A6 8884 genome.wustl.edu 37 2 27426071 27426071 + RNA SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 27426071 27426071 G A SNP SLC5A6 ENST00000461319 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC5A6 HGNC ENSG00000138074 20 15 42.86 22 0 0.00 SLC5A6 8884 genome.wustl.edu 37 2 27429780 27429780 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 27429780 27429780 G A SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known nonsense c.424 p.R142* 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 25 3 10.71 37 0 0.00 SLC5A6 8884 genome.wustl.edu 37 2 27430367 27430367 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27430367 27430367 C T SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known nonsense c.152 p.W51* 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 30 6 16.67 41 0 0.00 SLC5A8 160728 genome.wustl.edu 37 12 101551157 101551157 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101551157 101551157 T G SNP SLC5A8 ENST00000536262 human ensembl 70_37 -1 known missense c.1733 p.K578T 0.474 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 24 15 38.46 59 0 0.00 SLC5A9 200010 genome.wustl.edu 37 1 48688468 48688468 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 48688468 48688468 G C SNP SLC5A9 ENST00000236495 human ensembl 70_37 +1 known missense c.60 p.E20D 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 97 13 11.71 62 0 0.00 SLC5A9 200010 genome.wustl.edu 37 1 48688562 48688562 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 48688562 48688562 G C SNP SLC5A9 ENST00000236495 human ensembl 70_37 +1 known missense c.154 p.G52R 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 126 16 11.27 73 0 0.00 SLC5A9 200010 genome.wustl.edu 37 1 48703375 48703375 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 48703375 48703375 C T SNP SLC5A9 ENST00000236495 human ensembl 70_37 +1 known silent c.1392 p.V464 0.511 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 46 15 24.59 55 0 0.00 SLC5A9 200010 genome.wustl.edu 37 1 48713406 48713406 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 48713406 48713406 C G SNP SLC5A9 ENST00000471020 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC5A9 HGNC ENSG00000117834 17 7 29.17 17 0 0.00 SLC6A1 6529 genome.wustl.edu 37 3 11059595 11059595 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 11059595 11059595 G T SNP SLC6A1 ENST00000287766 human ensembl 70_37 +1 known missense c.305 p.C102F 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC ENSG00000157103 36 4 10.00 55 0 0.00 SLC6A1 6529 genome.wustl.edu 37 3 11061998 11061998 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 11061998 11061998 G C SNP SLC6A1 ENST00000287766 human ensembl 70_37 +1 known missense c.571 p.E191Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC ENSG00000157103 13 6 31.58 20 0 0.00 SLC6A10P 386757 genome.wustl.edu 37 16 32893360 32893360 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 32893360 32893360 G C SNP SLC6A10P ENST00000330048 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors SLC6A10P HGNC ENSG00000214617 23 8 25.81 31 0 0.00 SLC6A11 6538 genome.wustl.edu 37 3 10858057 10858057 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 10858057 10858057 C T SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known missense c.107 p.A36V 0.663 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 19 5 20.83 33 0 0.00 SLC6A11 6538 genome.wustl.edu 37 3 10916770 10916770 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 10916770 10916770 C G SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known missense c.881 p.S294C 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 56 32 36.36 106 0 0.00 SLC6A11 6538 genome.wustl.edu 37 3 10960013 10960013 + Splice_Site SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 10960013 10960013 G A SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known splice_site c.996-1 e8-1 1.000 - - - no_errors SLC6A11 HGNC ENSG00000132164 36 19 34.55 75 0 0.00 SLC6A11 6538 genome.wustl.edu 37 3 10976837 10976837 + Silent SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 10976837 10976837 G A SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known silent c.1698 p.P566 0.001 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 7 3 30.00 36 0 0.00 SLC6A12 6539 genome.wustl.edu 37 12 318945 318945 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 318945 318945 C T SNP SLC6A12 ENST00000359674 human ensembl 70_37 -1 known missense c.208 p.G70R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 66 16 19.51 62 0 0.00 SLC6A13 6540 genome.wustl.edu 37 12 333602 333602 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 333602 333602 A C SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known missense c.1138 p.F380V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 8 6 42.86 24 0 0.00 SLC6A13 6540 genome.wustl.edu 37 12 344275 344275 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 344275 344275 G A SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known missense c.812 p.T271M 0.954 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 41 15 26.79 48 0 0.00 SLC6A13 6540 genome.wustl.edu 37 12 369036 369036 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 369036 369036 G C SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known silent c.183 p.L61 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 31 37 54.41 67 0 0.00 SLC6A14 11254 genome.wustl.edu 37 X 115574018 115574018 + Splice_Site SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 115574018 115574018 T A SNP SLC6A14 ENST00000371900 human ensembl 70_37 +1 known splice_site c.508+2 e4+2 1.000 - - - no_errors SLC6A14 HGNC ENSG00000087916 81 18 18.00 86 0 0.00 SLC6A14 11254 genome.wustl.edu 37 X 115582693 115582693 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 115582693 115582693 C G SNP SLC6A14 ENST00000371900 human ensembl 70_37 +1 known missense c.1017 p.F339L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 31 18 36.73 68 0 0.00 SLC6A17 388662 genome.wustl.edu 37 1 110714769 110714769 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 110714769 110714769 G A SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known missense c.374 p.R125H 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 23 7 23.33 23 0 0.00 SLC6A17 388662 genome.wustl.edu 37 1 110734758 110734758 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 110734758 110734758 G A SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known silent c.1029 p.T343 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 57 26 31.33 66 0 0.00 SLC6A17 388662 genome.wustl.edu 37 1 110734776 110734776 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 110734776 110734776 C T SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known silent c.1047 p.L349 0.983 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 65 10 13.33 62 0 0.00 SLC6A17 388662 genome.wustl.edu 37 1 110738295 110738295 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 110738295 110738295 C G SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known missense c.1580 p.S527W 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 56 29 34.12 72 0 0.00 SLC6A18 348932 genome.wustl.edu 37 5 1244730 1244730 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1244730 1244730 G A SNP SLC6A18 ENST00000324642 human ensembl 70_37 +1 known missense c.1504 p.D502N 0.922 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 54 11 16.92 70 0 0.00 SLC6A19 340024 genome.wustl.edu 37 5 1216712 1216712 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 5 1216712 1216712 C G SNP SLC6A19 ENST00000304460 human ensembl 70_37 +1 known missense c.927 p.I309M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 51 27 34.62 109 0 0.00 SLC6A19 340024 genome.wustl.edu 37 5 1219645 1219645 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 1219645 1219645 C T SNP SLC6A19 ENST00000304460 human ensembl 70_37 +1 known silent c.1404 p.L468 0.001 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 73 17 18.89 41 0 0.00 SLC6A2 6530 genome.wustl.edu 37 16 55690662 55690662 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 55690662 55690662 C T SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.56 p.T19M 0.155 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 35 36 50.70 26 0 0.00 SLC6A2 6530 genome.wustl.edu 37 16 55725925 55725925 + Silent SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 55725925 55725925 C G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known silent c.879 p.A293 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 28 4 12.50 38 0 0.00 SLC6A2 6530 genome.wustl.edu 37 16 55727946 55727946 + Missense_Mutation SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 55727946 55727946 A G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.943 p.I315V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 24 3 11.11 41 0 0.00 SLC6A2 6530 genome.wustl.edu 37 16 55734065 55734065 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 55734065 55734065 C G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known silent c.1605 p.V535 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 47 9 16.07 48 0 0.00 SLC6A2 6530 genome.wustl.edu 37 16 55734174 55734174 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 55734174 55734174 T C SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.1714 p.Y572H 0.823 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 39 6 13.33 85 0 0.00 SLC6A20 54716 genome.wustl.edu 37 3 45812709 45812709 + Missense_Mutation SNP T T G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 45812709 45812709 T G SNP SLC6A20 ENST00000358525 human ensembl 70_37 -1 known missense c.935 p.K312T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 29 10 25.64 56 0 0.00 SLC6A3 6531 genome.wustl.edu 37 5 1409223 1409223 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 1409223 1409223 G A SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known silent c.1416 p.F472 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 35 8 18.60 32 0 0.00 SLC6A3 6531 genome.wustl.edu 37 5 1409228 1409228 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 1409228 1409228 C T SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known missense c.1411 p.V471I 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 18 8 30.77 38 0 0.00 SLC6A3 6531 genome.wustl.edu 37 5 1422122 1422122 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 1422122 1422122 C T SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known missense c.661 p.V221M 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 41 33 44.59 71 0 0.00 SLC6A5 9152 genome.wustl.edu 37 11 20623184 20623184 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20623184 20623184 G A SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known silent c.513 p.P171 0.996 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 48 40 45.45 44 0 0.00 SLC6A5 9152 genome.wustl.edu 37 11 20657923 20657923 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 20657923 20657923 C T SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known silent c.1695 p.I565 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 43 39 47.56 93 0 0.00 SLC6A5 9152 genome.wustl.edu 37 11 20676353 20676353 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 20676353 20676353 G C SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known missense c.2333 p.G778A 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 63 43 40.57 110 0 0.00 SLC6A5 9152 genome.wustl.edu 37 11 20676507 20676507 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 20676507 20676507 C G SNP SLC6A5 ENST00000528440 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SLC6A5 HGNC ENSG00000165970 95 30 24.00 107 0 0.00 SLC6A5 9152 genome.wustl.edu 37 11 20676574 20676574 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 20676574 20676574 C G SNP SLC6A5 ENST00000528440 human ensembl 70_37 +1 known rna NULL NULL 0.831 - - - no_errors SLC6A5 HGNC ENSG00000165970 14 6 30.00 20 0 0.00 SLC6A6 6533 genome.wustl.edu 37 3 14485210 14485210 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 14485210 14485210 G T SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known missense c.68 p.G23V 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 31 26 45.61 52 0 0.00 SLC6A6 6533 genome.wustl.edu 37 3 14486250 14486250 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 14486250 14486250 C T SNP SLC6A6 ENST00000435095 human ensembl 70_37 +1 known silent c.234 p.L78 0.744 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport - no_errors SLC6A6 HGNC ENSG00000131389 9 34 79.07 72 0 0.00 SLC6A6 6533 genome.wustl.edu 37 3 14487300 14487300 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 14487300 14487300 G A SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known missense c.305 p.G102D 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 21 19 47.50 125 0 0.00 SLC6A6 6533 genome.wustl.edu 37 3 14499524 14499524 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 14499524 14499524 C G SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known silent c.666 p.L222 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 80 12 13.04 60 0 0.00 SLC6A7 6534 genome.wustl.edu 37 5 149576289 149576289 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 149576289 149576289 C A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.228 p.L76 0.576 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 42 14 25.00 58 0 0.00 SLC6A7 6534 genome.wustl.edu 37 5 149576737 149576737 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149576737 149576737 G A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known nonsense c.482 p.W161* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 13 3 18.75 18 0 0.00 SLC6A7 6534 genome.wustl.edu 37 5 149581972 149581972 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 149581972 149581972 C G SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.921 p.L307 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 27 23 46.00 60 0 0.00 SLC6A7 6534 genome.wustl.edu 37 5 149583497 149583497 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 5 149583497 149583497 G T SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known missense c.1228 p.A410S 0.978 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 25 4 13.79 16 0 0.00 SLC6A7 6534 genome.wustl.edu 37 5 149583535 149583535 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 149583535 149583535 G A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.1266 p.K422 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 66 12 15.38 50 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152954233 152954233 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 152954233 152954233 C T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known silent c.204 p.F68 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 65 10 13.33 56 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152954237 152954237 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152954237 152954237 G T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known missense c.208 p.V70L 0.994 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 31 12 27.91 42 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152955984 152955984 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 152955984 152955984 C T SNP SLC6A8 ENST00000476466 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC ENSG00000130821 68 32 32.00 99 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152957007 152957007 + Nonsense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 152957007 152957007 G T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known nonsense c.643 p.E215* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 68 46 40.35 64 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152958162 152958162 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 152958162 152958162 C G SNP SLC6A8 ENST00000485324 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SLC6A8 HGNC ENSG00000130821 3 21 87.50 29 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152959018 152959018 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 152959018 152959018 A C SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known missense c.1118 p.H373P 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 47 7 12.96 91 0 0.00 SLC6A8 6535 genome.wustl.edu 37 X 152959915 152959915 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152959915 152959915 G C SNP SLC6A8 ENST00000485324 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC ENSG00000130821 128 54 29.67 109 0 0.00 SLC6A9 6536 genome.wustl.edu 37 1 44466890 44466890 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 44466890 44466890 C G SNP SLC6A9 ENST00000360584 human ensembl 70_37 -1 known silent c.1500 p.V500 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 44 30 40.54 51 0 0.00 SLC6A9 6536 genome.wustl.edu 37 1 44467157 44467157 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 44467157 44467157 C T SNP SLC6A9 ENST00000360584 human ensembl 70_37 -1 known missense c.1324 p.V442M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 39 14 26.42 42 0 0.00 SLC6A9 6536 genome.wustl.edu 37 1 44490015 44490015 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 44490015 44490015 C T SNP SLC6A9 ENST00000492434 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A9 HGNC ENSG00000196517 36 21 36.84 58 0 0.00 SLC7A1 6541 genome.wustl.edu 37 13 30090363 30090363 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 13 30090363 30090363 G T SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known silent c.1698 p.L566 0.028 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 31 4 11.43 36 0 0.00 SLC7A1 6541 genome.wustl.edu 37 13 30091325 30091325 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 13 30091325 30091325 C T SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known missense c.1633 p.V545I 0.013 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 6 8 57.14 35 0 0.00 SLC7A1 6541 genome.wustl.edu 37 13 30110018 30110018 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 30110018 30110018 A G SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known missense c.308 p.V103A 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 21 25 54.35 61 0 0.00 SLC7A10 56301 genome.wustl.edu 37 19 33703233 33703233 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 33703233 33703233 G A SNP SLC7A10 ENST00000253188 human ensembl 70_37 -1 known silent c.753 p.L251 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 40 40 50.00 56 0 0.00 SLC7A10 56301 genome.wustl.edu 37 19 33706703 33706703 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 33706703 33706703 C T SNP SLC7A10 ENST00000253188 human ensembl 70_37 -1 known missense c.328 p.V110I 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 58 17 22.67 55 0 0.00 SLC7A11 23657 genome.wustl.edu 37 4 139135743 139135743 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 139135743 139135743 C T SNP SLC7A11 ENST00000280612 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 25 11 30.56 45 0 0.00 SLC7A11 23657 genome.wustl.edu 37 4 139153538 139153539 + Splice_Site INS - - A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 139153538 139153539 - A INS SLC7A11 ENST00000280612 human ensembl 70_37 -1 known splice_site_ins c.405-3_405-2 e3-2 1.000:0.006 - - - no_errors SLC7A11 HGNC ENSG00000151012 21 4 16.00 24 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170184915 170184915 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 170184915 170184915 C T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known silent c.2244 p.K748 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 150 34 18.48 90 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170185087 170185087 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 170185087 170185087 C A SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.2072 p.S691I 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 22 9 29.03 27 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170204044 170204044 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 170204044 170204044 G A SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known silent c.873 p.A291 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 26 6 18.75 61 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170204088 170204088 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 170204088 170204088 C G SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.829 p.E277Q 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 31 18 36.73 46 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170204151 170204151 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 170204151 170204151 G T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.766 p.Q256K 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 57 8 12.31 31 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170216629 170216629 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 170216629 170216629 C T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.586 p.A196T 0.996 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 31 4 11.43 20 0 0.00 SLC7A14 57709 genome.wustl.edu 37 3 170244566 170244566 + Missense_Mutation SNP T T C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 3 170244566 170244566 T C SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.160 p.T54A 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 120 17 12.41 66 0 0.00 SLC7A2 6542 genome.wustl.edu 37 8 17396334 17396334 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 17396334 17396334 A G SNP SLC7A2 ENST00000004531 human ensembl 70_37 +1 known missense c.1 p.M1V 0.001 NULL pfam_AA-permease_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 25 14 35.90 71 0 0.00 SLC7A2 6542 genome.wustl.edu 37 8 17401053 17401053 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 8 17401053 17401053 G A SNP SLC7A2 ENST00000004531 human ensembl 70_37 +1 known missense c.325 p.V109M 0.960 pfam_AA-permease_dom,tigrfam_Cat_AA_permease pfam_AA-permease_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 68 30 30.61 100 0 0.00 SLC7A3 84889 genome.wustl.edu 37 X 70145747 70145747 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70145747 70145747 C G SNP SLC7A3 ENST00000298085 human ensembl 70_37 -1 known missense c.1776 p.E592D 0.374 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 74 27 26.73 105 0 0.00 SLC7A3 84889 genome.wustl.edu 37 X 70148314 70148314 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 70148314 70148314 G A SNP SLC7A3 ENST00000298085 human ensembl 70_37 -1 known silent c.699 p.D233 0.580 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 17 5 22.73 23 0 0.00 SLC7A4 6545 genome.wustl.edu 37 22 21385831 21385831 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 21385831 21385831 C T SNP SLC7A4 ENST00000382932 human ensembl 70_37 -1 known missense c.271 p.E91K 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 27 8 22.86 60 0 0.00 SLC7A4 6545 genome.wustl.edu 37 22 21385937 21385937 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21385937 21385937 G C SNP SLC7A4 ENST00000382932 human ensembl 70_37 -1 known silent c.165 p.L55 0.945 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 56 31 35.63 97 0 0.00 SLC7A5 8140 genome.wustl.edu 37 16 87872349 87872349 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 87872349 87872349 G A SNP SLC7A5 ENST00000261622 human ensembl 70_37 -1 known silent c.1014 p.S338 0.014 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 8 9 52.94 30 0 0.00 SLC7A5 8140 genome.wustl.edu 37 16 87902738 87902738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 87902738 87902738 G A SNP SLC7A5 ENST00000261622 human ensembl 70_37 -1 known silent c.291 p.I97 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 45 12 20.69 47 0 0.00 SLC7A6 9057 genome.wustl.edu 37 16 68328701 68328701 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 16 68328701 68328701 C T SNP SLC7A6 ENST00000219343 human ensembl 70_37 +1 known silent c.1116 p.F372 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 25 10 28.57 42 0 0.00 SLC7A6OS 84138 genome.wustl.edu 37 16 68344279 68344279 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 68344279 68344279 C G SNP SLC7A6OS ENST00000263997 human ensembl 70_37 -1 known missense c.430 p.E144Q 1.000 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 11 13 54.17 27 0 0.00 SLC7A8 23428 genome.wustl.edu 37 14 23624564 23624564 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 23624564 23624564 C T SNP SLC7A8 ENST00000529705 human ensembl 70_37 -1 putative missense c.4 p.G2R 0.002 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A8 HGNC ENSG00000092068 45 29 39.19 47 0 0.00 SLC7A9 11136 genome.wustl.edu 37 19 33355545 33355545 + Silent SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 33355545 33355545 G C SNP SLC7A9 ENST00000023064 human ensembl 70_37 -1 known silent c.225 p.L75 0.023 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 50 6 10.71 33 0 0.00 SLC7A9 11136 genome.wustl.edu 37 19 33355560 33355560 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 19 33355560 33355560 C T SNP SLC7A9 ENST00000023064 human ensembl 70_37 -1 known silent c.210 p.A70 0.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 20 24 54.55 73 0 0.00 SLC7A9 11136 genome.wustl.edu 37 19 33359429 33359429 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 33359429 33359429 A G SNP SLC7A9 ENST00000023064 human ensembl 70_37 -1 known silent c.12 p.T4 0.000 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 23 5 17.86 37 0 0.00 SLC8A1 6546 genome.wustl.edu 37 2 40405622 40405622 + Nonsense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 40405622 40405622 G T SNP SLC8A1 ENST00000332839 human ensembl 70_37 -1 known nonsense c.1820 p.S607* 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 10 4 28.57 30 0 0.00 SLC8A2 6543 genome.wustl.edu 37 19 47941204 47941204 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 47941204 47941204 C T SNP SLC8A2 ENST00000236877 human ensembl 70_37 -1 known missense c.1912 p.E638K 0.997 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 20 11 35.48 25 0 0.00 SLC8A2 6543 genome.wustl.edu 37 19 47960516 47960516 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47960516 47960516 G A SNP SLC8A2 ENST00000236877 human ensembl 70_37 -1 known silent c.1011 p.I337 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 3 7 70.00 9 0 0.00 SLC8A3 6547 genome.wustl.edu 37 14 70512940 70512940 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 14 70512940 70512940 G A SNP SLC8A3 ENST00000381269 human ensembl 70_37 -1 known silent c.2508 p.I836 0.817 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 6 3 33.33 38 0 0.00 SLC9A1 6548 genome.wustl.edu 37 1 27425851 27425851 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 27425851 27425851 C T SNP SLC9A1 ENST00000490329 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors SLC9A1 HGNC ENSG00000090020 57 36 38.71 50 0 0.00 SLC9A1 6548 genome.wustl.edu 37 1 27426904 27426904 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 27426904 27426904 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.2342 p.A781V 0.002 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 131 30 18.63 147 0 0.00 SLC9A1 6548 genome.wustl.edu 37 1 27440643 27440643 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 27440643 27440643 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.487 p.L163F 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 68 45 39.82 32 0 0.00 SLC9A1 6548 genome.wustl.edu 37 1 27440672 27440672 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 27440672 27440672 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.458 p.P153L 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 37 27 42.19 44 0 0.00 SLC9A1 6548 genome.wustl.edu 37 1 27440753 27440753 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 27440753 27440753 G C SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known nonsense c.377 p.S126* 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 71 24 25.00 83 0 0.00 SLC9A2 6549 genome.wustl.edu 37 2 103274408 103274408 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 103274408 103274408 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known silent c.675 p.V225 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 84 27 24.32 154 0 0.00 SLC9A2 6549 genome.wustl.edu 37 2 103299770 103299770 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 103299770 103299770 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.1055 p.S352F 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 35 15 30.00 54 0 0.00 SLC9A2 6549 genome.wustl.edu 37 2 103318928 103318928 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 103318928 103318928 C G SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known silent c.1812 p.L604 0.811 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 19 17 47.22 27 0 0.00 SLC9A2 6549 genome.wustl.edu 37 2 103322309 103322309 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 103322309 103322309 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.1982 p.S661F 0.999 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 30 13 30.23 62 0 0.00 SLC9A2 6549 genome.wustl.edu 37 2 103324666 103324666 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 103324666 103324666 C G SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.2157 p.F719L 0.996 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 40 14 25.00 51 0 0.00 SLC9A3 6550 genome.wustl.edu 37 5 476336 476336 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 476336 476336 C T SNP SLC9A3 ENST00000264938 human ensembl 70_37 -1 known missense c.2048 p.R683Q 1.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 24 18 42.86 33 0 0.00 SLC9A3 6550 genome.wustl.edu 37 5 476352 476353 + Frame_Shift_Ins INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 476352 476353 - T INS SLC9A3 ENST00000264938 human ensembl 70_37 -1 known frame_shift_ins c.2032_2031 p.A677fs 0.042:0.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 56 10 15.15 52 0 0.00 SLC9A3R2 9351 genome.wustl.edu 37 16 2087934 2087934 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 2087934 2087934 C T SNP SLC9A3R2 ENST00000424542 human ensembl 70_37 +1 known silent c.963 p.R321 1.000 pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R2 HGNC ENSG00000065054 131 42 24.28 214 0 0.00 SLC9A4 389015 genome.wustl.edu 37 2 103090436 103090436 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 103090436 103090436 T G SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known missense c.218 p.V73G 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 38 5 11.63 58 0 0.00 SLC9A4 389015 genome.wustl.edu 37 2 103095452 103095452 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 103095452 103095452 C A SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known silent c.411 p.P137 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 102 35 25.55 167 0 0.00 SLC9A4 389015 genome.wustl.edu 37 2 103149013 103149013 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 103149013 103149013 G T SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known missense c.2263 p.D755Y 0.040 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 32 16 33.33 46 0 0.00 SLC9A5 6553 genome.wustl.edu 37 16 67283103 67283103 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67283103 67283103 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known silent c.186 p.I62 0.977 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 47 27 36.49 50 0 0.00 SLC9A5 6553 genome.wustl.edu 37 16 67288978 67288978 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67288978 67288978 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known missense c.545 p.S182L 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 95 48 33.57 157 0 0.00 SLC9A5 6553 genome.wustl.edu 37 16 67290582 67290582 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67290582 67290582 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known silent c.1122 p.F374 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 4 3 42.86 13 0 0.00 SLC9A6 10479 genome.wustl.edu 37 X 135067841 135067841 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 135067841 135067841 G C SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known missense c.180 p.E60D 1.000 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 56 22 28.21 108 0 0.00 SLC9A6 10479 genome.wustl.edu 37 X 135080293 135080293 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 135080293 135080293 C T SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known silent c.552 p.F184 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 98 27 21.60 65 0 0.00 SLC9A6 10479 genome.wustl.edu 37 X 135095119 135095119 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 135095119 135095119 C T SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known silent c.1053 p.F351 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 49 22 30.99 99 0 0.00 SLC9A6 10479 genome.wustl.edu 37 X 135106633 135106633 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 135106633 135106633 T C SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known missense c.1607 p.L536S 1.000 prints_Na/H_exchanger_6,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 114 35 23.49 123 0 0.00 SLC9A7 84679 genome.wustl.edu 37 X 46466593 46466593 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46466593 46466593 C T SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.1972 p.E658K 0.998 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 24 16 40.00 59 0 0.00 SLC9A7 84679 genome.wustl.edu 37 X 46513050 46513050 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 46513050 46513050 A C SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.1138 p.F380V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 58 21 26.58 93 0 0.00 SLC9A7 84679 genome.wustl.edu 37 X 46522066 46522066 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 46522066 46522066 G A SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.806 p.A269V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 56 9 13.85 70 0 0.00 SLC9A7 84679 genome.wustl.edu 37 X 46541920 46541920 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 46541920 46541920 G A SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.376 p.R126C 1.000 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 36 11 22.92 31 0 0.00 SLC9A7 84679 genome.wustl.edu 37 X 46618353 46618353 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 46618353 46618353 C T SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.112 p.A38T 0.941 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 21 9 30.00 33 0 0.00 SLC9A7P1 121456 genome.wustl.edu 37 12 98848804 98848804 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 98848804 98848804 G A SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 0.985 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 72 38 34.55 108 0 0.00 SLC9A7P1 121456 genome.wustl.edu 37 12 98849969 98849969 + RNA SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 98849969 98849969 G C SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 0.997 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 37 11 22.92 25 0 0.00 SLC9A7P1 121456 genome.wustl.edu 37 12 98850422 98850422 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 98850422 98850422 C G SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 51 42 45.16 85 0 0.00 SLC9A8 23315 genome.wustl.edu 37 20 48467300 48467301 + Frame_Shift_Ins INS - - T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 48467300 48467301 - T INS SLC9A8 ENST00000417961 human ensembl 70_37 +1 known frame_shift_ins c.536_537 p.F183fs 0.284:0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 17 2 10.53 15 0 0.00 SLC9A9 285195 genome.wustl.edu 37 3 143082369 143082369 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 143082369 143082369 C G SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.1561 p.E521Q 0.998 prints_Na/H_exchanger_6,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 61 7 10.29 40 0 0.00 SLC9A9 285195 genome.wustl.edu 37 3 143271214 143271214 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 143271214 143271214 C G SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.1079 p.R360T 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 13 7 35.00 59 0 0.00 SLC9A9 285195 genome.wustl.edu 37 3 143515691 143515691 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 143515691 143515691 G C SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.433 p.H145D 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 57 12 17.39 41 0 0.00 SLC9B1 150159 genome.wustl.edu 37 4 103831685 103831685 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 103831685 103831685 C T SNP SLC9B1 ENST00000296422 human ensembl 70_37 -1 known missense c.997 p.G333S 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 73 34 31.78 100 0 0.00 SLC9B2 133308 genome.wustl.edu 37 4 103979062 103979062 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 103979062 103979062 C T SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known missense c.338 p.G113E 1.000 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 139 70 33.49 227 0 0.00 SLC9B2 133308 genome.wustl.edu 37 4 103987634 103987634 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 103987634 103987634 C G SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known missense c.121 p.D41H 0.448 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 66 77 53.85 124 1 0.80 SLC9B2 133308 genome.wustl.edu 37 4 103987647 103987647 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 103987647 103987647 C T SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known silent c.108 p.K36 0.000 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 40 30 42.86 77 0 0.00 SLC9C1 285335 genome.wustl.edu 37 3 111886195 111886195 + Splice_Site SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 111886195 111886195 C G SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known splice_site c.3238-1 e25-1 0.996 - - - no_errors SLC9C1 HGNC ENSG00000172139 25 4 13.79 23 0 0.00 SLC9C1 285335 genome.wustl.edu 37 3 111901081 111901081 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 111901081 111901081 C A SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.2548 p.V850L 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 177 52 22.71 118 0 0.00 SLC9C1 285335 genome.wustl.edu 37 3 111923076 111923076 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 111923076 111923076 G A SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.2161 p.R721C 0.997 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 47 6 11.32 31 0 0.00 SLC9C1 285335 genome.wustl.edu 37 3 111927180 111927180 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 111927180 111927180 C G SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.981 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 61 12 16.44 61 0 0.00 SLC9C1 285335 genome.wustl.edu 37 3 111983170 111983170 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 111983170 111983170 C T SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.899 p.R300H 0.972 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 7 11 61.11 50 0 0.00 SLC9C2 284525 genome.wustl.edu 37 1 173506101 173506101 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 173506101 173506101 G T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known nonsense c.1635 p.C545* 0.890 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 15 3 16.67 45 0 0.00 SLC9C2 284525 genome.wustl.edu 37 1 173506145 173506145 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173506145 173506145 G T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known missense c.1591 p.L531I 0.895 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 18 6 25.00 47 0 0.00 SLC9C2 284525 genome.wustl.edu 37 1 173517585 173517585 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173517585 173517585 A C SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known missense c.1404 p.I468M 0.988 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 12 6 33.33 31 0 0.00 SLC9C2 284525 genome.wustl.edu 37 1 173517641 173517641 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 173517641 173517641 G A SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known nonsense c.1348 p.Q450* 0.844 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 20 13 39.39 17 0 0.00 SLC9C2 284525 genome.wustl.edu 37 1 173551050 173551050 + Silent SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 173551050 173551050 A T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known silent c.738 p.V246 0.248 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 28 7 20.00 44 0 0.00 SLCO1A2 6579 genome.wustl.edu 37 12 21448654 21448654 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 21448654 21448654 G T SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.1148 p.T383N 0.986 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 91 17 15.74 97 0 0.00 SLCO1A2 6579 genome.wustl.edu 37 12 21448655 21448655 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 21448655 21448655 T A SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.1147 p.T383S 0.993 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 88 16 15.38 96 0 0.00 SLCO1A2 6579 genome.wustl.edu 37 12 21467488 21467488 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 21467488 21467488 C T SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.330 p.M110I 0.976 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 81 24 22.86 91 0 0.00 SLCO1B1 10599 genome.wustl.edu 37 12 21355441 21355441 + Silent SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 21355441 21355441 T G SNP SLCO1B1 ENST00000256958 human ensembl 70_37 +1 known silent c.1152 p.P384 0.089 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 15 11 42.31 23 0 0.00 SLCO1B1 10599 genome.wustl.edu 37 12 21375257 21375257 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 21375257 21375257 C T SNP SLCO1B1 ENST00000256958 human ensembl 70_37 +1 known missense c.1706 p.S569L 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 22 8 26.67 30 0 0.00 SLCO1B3 28234 genome.wustl.edu 37 12 21028281 21028281 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21028281 21028281 G A SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known silent c.840 p.P280 0.016 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 41 26 38.81 133 1 0.75 SLCO1B3 28234 genome.wustl.edu 37 12 21229400 21229400 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 21229400 21229400 C T SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known missense c.1945 p.P649S 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 97 13 11.82 100 0 0.00 SLCO1B3 28234 genome.wustl.edu 37 12 21242987 21242987 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 21242987 21242987 T C SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known silent c.2194 p.L732 0.018 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 53 11 17.19 70 0 0.00 SLCO1B7 338821 genome.wustl.edu 37 12 21168708 21168708 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21168708 21168708 G A SNP SLCO1B7 ENST00000421593 human ensembl 70_37 +1 known missense c.79 p.E27K 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 19 7 26.92 42 0 0.00 SLCO1C1 53919 genome.wustl.edu 37 12 20854329 20854329 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 20854329 20854329 G C SNP SLCO1C1 ENST00000381552 human ensembl 70_37 +1 known missense c.207 p.Q69H 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 118 42 26.25 178 0 0.00 SLCO1C1 53919 genome.wustl.edu 37 12 20868094 20868094 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 20868094 20868094 C G SNP SLCO1C1 ENST00000381552 human ensembl 70_37 +1 known missense c.551 p.S184C 0.049 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 66 10 13.16 75 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133654649 133654649 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 133654649 133654649 C T SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1783 p.A595T 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 54 11 16.92 68 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133661572 133661572 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133661572 133661572 G T SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known nonsense c.1502 p.S501* 0.295 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 33 29 46.77 76 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133663963 133663963 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 133663963 133663963 C G SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1437 p.M479I 0.001 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 33 12 26.67 32 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133663963 133663963 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 133663963 133663963 C G SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1437 p.M479I 0.001 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 45 9 16.67 50 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133664099 133664099 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133664099 133664099 G C SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known nonsense c.1301 p.S434* 0.998 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 24 11 31.43 44 0 0.00 SLCO2A1 6578 genome.wustl.edu 37 3 133698338 133698338 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 133698338 133698338 G C SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.221 p.S74C 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 85 10 10.53 91 0 0.00 SLCO3A1 28232 genome.wustl.edu 37 15 92459366 92459366 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 92459366 92459366 G C SNP SLCO3A1 ENST00000318445 human ensembl 70_37 +1 known silent c.324 p.L108 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 38 14 26.92 71 0 0.00 SLCO3A1 28232 genome.wustl.edu 37 15 92706005 92706005 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 92706005 92706005 C T SNP SLCO3A1 ENST00000318445 human ensembl 70_37 +1 known silent c.1773 p.L591 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 76 32 29.63 64 0 0.00 SLCO4A1 28231 genome.wustl.edu 37 20 61290075 61290075 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 61290075 61290075 G C SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known silent c.843 p.L281 0.999 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 123 47 27.65 66 0 0.00 SLCO4A1 28231 genome.wustl.edu 37 20 61290116 61290116 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 61290116 61290116 G A SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.884 p.R295Q 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 69 28 28.87 52 0 0.00 SLCO4A1 28231 genome.wustl.edu 37 20 61291826 61291826 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 20 61291826 61291826 C T SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.950 p.S317F 0.157 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 68 15 18.07 71 0 0.00 SLCO4A1 28231 genome.wustl.edu 37 20 61299485 61299485 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 61299485 61299485 T C SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.1760 p.V587A 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 11 6 35.29 39 0 0.00 SLCO5A1 81796 genome.wustl.edu 37 8 70617305 70617305 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 70617305 70617305 C G SNP SLCO5A1 ENST00000260126 human ensembl 70_37 -1 known missense c.1583 p.S528T 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 33 14 29.79 69 0 0.00 SLCO5A1 81796 genome.wustl.edu 37 8 70744526 70744526 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 70744526 70744526 C T SNP SLCO5A1 ENST00000260126 human ensembl 70_37 -1 known missense c.383 p.R128H 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 56 44 44.00 65 0 0.00 SLCO5A1 81796 genome.wustl.edu 37 8 70744929 70744929 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 70744929 70744929 G C SNP SLCO5A1 ENST00000528658 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLCO5A1 HGNC ENSG00000137571 53 30 36.14 47 0 0.00 SLCO6A1 133482 genome.wustl.edu 37 5 101755603 101755603 + Missense_Mutation SNP T T G TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 5 101755603 101755603 T G SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known missense c.1399 p.I467L 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 23 3 11.54 46 0 0.00 SLCO6A1 133482 genome.wustl.edu 37 5 101811489 101811489 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 101811489 101811489 C G SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known missense c.811 p.E271Q 0.019 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 19 4 17.39 41 0 0.00 SLCO6A1 133482 genome.wustl.edu 37 5 101813540 101813540 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 101813540 101813540 G A SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known silent c.642 p.V214 0.001 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 22 5 18.52 29 0 0.00 SLCO6A1 133482 genome.wustl.edu 37 5 101834431 101834431 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 101834431 101834431 T C SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known missense c.118 p.K40E 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 79 32 28.57 60 0 0.00 SLFN11 91607 genome.wustl.edu 37 17 33680989 33680989 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33680989 33680989 G T SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.1288 p.Q430K 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 9 8 47.06 23 0 0.00 SLFN11 91607 genome.wustl.edu 37 17 33690272 33690272 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33690272 33690272 T C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known silent c.555 p.P185 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 33 21 38.89 91 0 0.00 SLFN11 91607 genome.wustl.edu 37 17 33690730 33690730 + Missense_Mutation SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 33690730 33690730 T C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.97 p.K33E 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 29 18 38.30 61 0 0.00 SLFN11 91607 genome.wustl.edu 37 17 33690789 33690789 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 33690789 33690789 G C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.38 p.S13C 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 57 20 25.64 42 0 0.00 SLFN12 55106 genome.wustl.edu 37 17 33738406 33738406 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33738406 33738406 A C SNP SLFN12 ENST00000304905 human ensembl 70_37 -1 known missense c.1688 p.F563C 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 6 4 40.00 26 0 0.00 SLFN12L 100506736 genome.wustl.edu 37 17 33806541 33806541 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 33806541 33806541 C T SNP SLFN12L ENST00000449046 human ensembl 70_37 -1 known missense c.781 p.E261K 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 36 17 32.08 79 0 0.00 SLFN12L 100506736 genome.wustl.edu 37 17 33806930 33806930 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33806930 33806930 G C SNP SLFN12L ENST00000449046 human ensembl 70_37 -1 known missense c.392 p.S131C 0.006 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 44 31 40.79 55 0 0.00 SLFN13 146857 genome.wustl.edu 37 17 33767735 33767735 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 33767735 33767735 G A SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.2573 p.S858L 0.926 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 55 12 17.91 76 0 0.00 SLFN13 146857 genome.wustl.edu 37 17 33768937 33768937 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 33768937 33768937 C T SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.1567 p.A523T 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 37 13 26.00 64 0 0.00 SLFN13 146857 genome.wustl.edu 37 17 33772595 33772595 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 33772595 33772595 C A SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.105 p.Q35H 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 13 3 18.75 26 0 0.00 SLFN14 342618 genome.wustl.edu 37 17 33879989 33879989 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 33879989 33879989 G C SNP SLFN14 ENST00000415846 human ensembl 70_37 -1 known missense c.1664 p.S555C 0.127 NULL pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC ENSG00000236320 12 20 62.50 23 0 0.00 SLFN14 342618 genome.wustl.edu 37 17 33884325 33884325 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33884325 33884325 C A SNP SLFN14 ENST00000415846 human ensembl 70_37 -1 known nonsense c.757 p.E253* 1.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC ENSG00000236320 43 30 41.10 78 0 0.00 SLFN5 162394 genome.wustl.edu 37 17 33586072 33586072 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33586072 33586072 G C SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known missense c.363 p.E121D 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 102 39 27.66 163 0 0.00 SLFN5 162394 genome.wustl.edu 37 17 33591389 33591390 + Frame_Shift_Ins INS - - A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 17 33591389 33591390 - A INS SLFN5 ENST00000299977 human ensembl 70_37 +1 known frame_shift_ins c.1326_1327 p.L442fs 0.903:0.855 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 78 11 12.36 161 0 0.00 SLFN5 162394 genome.wustl.edu 37 17 33592569 33592569 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33592569 33592569 C A SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known missense c.2338 p.L780I 0.018 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 36 19 34.55 107 0 0.00 SLFN5 162394 genome.wustl.edu 37 17 33592730 33592730 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 33592730 33592730 G A SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known silent c.2499 p.S833 0.003 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 51 10 16.39 38 0 0.00 SLFNL1 200172 genome.wustl.edu 37 1 41481881 41481881 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 41481881 41481881 C T SNP SLFNL1 ENST00000302946 human ensembl 70_37 -1 known missense c.1121 p.G374D 0.979 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 23 14 36.84 47 0 0.00 SLFNL1 200172 genome.wustl.edu 37 1 41486318 41486318 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 41486318 41486318 C T SNP SLFNL1 ENST00000302946 human ensembl 70_37 -1 known silent c.15 p.K5 0.962 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 22 4 15.38 15 0 0.00 SLIT1 6585 genome.wustl.edu 37 10 98773558 98773558 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 10 98773558 98773558 G C SNP SLIT1 ENST00000266058 human ensembl 70_37 -1 known missense c.3143 p.S1048C 0.985 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 26 12 31.58 29 0 0.00 SLIT1 6585 genome.wustl.edu 37 10 98794254 98794254 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98794254 98794254 G A SNP SLIT1 ENST00000266058 human ensembl 70_37 -1 known silent c.2412 p.F804 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 25 27 51.92 63 0 0.00 SLIT1 6585 genome.wustl.edu 37 10 98823227 98823227 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 98823227 98823227 C T SNP SLIT1 ENST00000266058 human ensembl 70_37 -1 known missense c.778 p.E260K 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 61 16 20.78 94 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20255564 20255564 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 20255564 20255564 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.126 p.H42 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 70 12 14.63 98 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20270444 20270444 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 20270444 20270444 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.335 p.R112K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 51 30 37.04 95 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20530646 20530646 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 20530646 20530646 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.1537 p.E513K 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 112 55 32.93 187 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20569140 20569140 + Splice_Site SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 20569140 20569140 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known splice_site c.2851-1 e28-1 1.000 - - - no_errors SLIT2 HGNC ENSG00000145147 36 11 23.40 54 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20597356 20597356 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20597356 20597356 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.3219 p.C1073 0.965 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 61 26 29.89 97 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20597410 20597410 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20597410 20597410 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.3273 p.C1091 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 42 12 22.22 94 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20618553 20618553 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 20618553 20618553 G T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.3868 p.V1290L 0.768 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 34 4 10.53 31 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20620402 20620402 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 20620402 20620402 C G SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.4360 p.R1454G 1.000 pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 32 5 13.51 31 0 0.00 SLIT2 9353 genome.wustl.edu 37 4 20620537 20620537 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 20620537 20620537 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.4495 p.R1499W 0.999 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 53 10 15.87 91 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168098381 168098381 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 168098381 168098381 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3949 p.D1317N 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 44 5 10.20 61 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168114012 168114012 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 168114012 168114012 A C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3286 p.Y1096D 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 31 12 27.91 55 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168114084 168114084 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 168114084 168114084 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3214 p.E1072K 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 8 21 72.41 50 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168123399 168123399 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 168123399 168123399 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.2980 p.E994K 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 28 19 40.43 33 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168151429 168151429 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 168151429 168151429 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.2331 p.L777 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 35 16 31.37 39 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168176634 168176634 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 168176634 168176634 G C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.1980 p.L660 0.989 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 21 37 63.79 55 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168180967 168180967 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 168180967 168180967 G A SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.1731 p.F577 0.813 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 11 13 54.17 40 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168199788 168199788 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 168199788 168199788 G C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known nonsense c.1457 p.S486* 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 121 35 22.44 143 0 0.00 SLIT3 6586 genome.wustl.edu 37 5 168620515 168620515 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 168620515 168620515 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 36 25 40.98 44 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84453964 84453964 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 13 84453964 84453964 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1679 p.T560M 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 37 6 13.95 11 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454215 84454215 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 84454215 84454215 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1428 p.L476 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 61 18 22.78 69 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454243 84454243 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 13 84454243 84454243 A G SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1400 p.F467S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 81 18 18.18 90 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454368 84454368 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454368 84454368 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1275 p.L425 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 30 16 34.78 46 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454386 84454386 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454386 84454386 G C SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1257 p.F419L 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 28 12 30.00 35 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454440 84454440 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454440 84454440 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1203 p.L401 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 15 8 34.78 30 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454449 84454449 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454449 84454449 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1194 p.Y398 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 13 7 35.00 30 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454521 84454521 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454521 84454521 G C SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1122 p.L374 0.894 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 7 5 41.67 16 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454533 84454533 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 13 84454533 84454533 C T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1110 p.L370 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 8 3 27.27 14 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84454935 84454935 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454935 84454935 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.708 p.I236 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 40 20 33.33 69 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84455052 84455052 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84455052 84455052 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.591 p.V197 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 33 12 26.67 61 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84455071 84455071 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 84455071 84455071 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.572 p.T191K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 86 30 25.86 119 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84455409 84455409 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 84455409 84455409 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.234 p.F78 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 8 12 60.00 28 0 0.00 SLITRK1 114798 genome.wustl.edu 37 13 84455448 84455448 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 84455448 84455448 C A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.195 p.L65 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 20 11 35.48 23 0 0.00 SLITRK2 84631 genome.wustl.edu 37 X 144904117 144904118 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe X 144904117 144904118 - C INS SLITRK2 ENST00000370490 human ensembl 70_37 +1 known frame_shift_ins c.174_175 p.Q60fs 1.000:1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 38 20 34.48 59 0 0.00 SLITRK2 84631 genome.wustl.edu 37 X 144905446 144905446 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 144905446 144905446 G A SNP SLITRK2 ENST00000370490 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 28 12 30.00 31 0 0.00 SLITRK2 84631 genome.wustl.edu 37 X 144905849 144905849 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 144905849 144905849 G A SNP SLITRK2 ENST00000370490 human ensembl 70_37 +1 known missense c.1906 p.G636R 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 12 11 47.83 30 0 0.00 SLITRK3 22865 genome.wustl.edu 37 3 164906461 164906461 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 164906461 164906461 C A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known missense c.2158 p.G720W 0.411 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 12 13 52.00 15 0 0.00 SLITRK3 22865 genome.wustl.edu 37 3 164906468 164906468 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 164906468 164906468 G A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known silent c.2151 p.G717 0.570 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 35 4 10.26 19 0 0.00 SLITRK3 22865 genome.wustl.edu 37 3 164906555 164906555 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 164906555 164906555 G A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known silent c.2064 p.F688 0.927 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 17 11 39.29 26 0 0.00 SLITRK3 22865 genome.wustl.edu 37 3 164907457 164907457 + Missense_Mutation SNP A A C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 3 164907457 164907457 A C SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known missense c.1162 p.L388V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 185 31 14.29 131 0 0.00 SLITRK3 22865 genome.wustl.edu 37 3 164907799 164907799 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 164907799 164907799 C T SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 84 19 18.45 29 0 0.00 SLITRK4 139065 genome.wustl.edu 37 X 142717613 142717613 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 142717613 142717613 C G SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known missense c.1312 p.E438Q 0.993 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 77 33 30.00 57 0 0.00 SLITRK4 139065 genome.wustl.edu 37 X 142718310 142718310 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 142718310 142718310 G A SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known silent c.615 p.V205 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 16 14 46.67 54 0 0.00 SLITRK4 139065 genome.wustl.edu 37 X 142718330 142718330 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 142718330 142718330 G A SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known silent c.595 p.L199 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 37 9 19.57 71 0 0.00 SLITRK4 139065 genome.wustl.edu 37 X 142718808 142718808 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 X 142718808 142718808 G T SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known silent c.117 p.L39 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 39 5 11.11 57 0 0.00 SLITRK4 139065 genome.wustl.edu 37 X 142718888 142718888 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 142718888 142718888 T C SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known missense c.37 p.I13V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 22 5 18.52 33 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88328010 88328010 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 88328010 88328010 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.367 p.G123R 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 136 58 29.74 226 1 0.44 SLITRK5 26050 genome.wustl.edu 37 13 88328010 88328010 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 88328010 88328010 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.367 p.G123R 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 28 17 37.78 32 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88329227 88329227 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 88329227 88329227 G C SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.1584 p.L528F 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 69 21 23.33 123 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88329623 88329623 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 13 88329623 88329623 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known silent c.1980 p.S660 0.200 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 63 15 19.23 67 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88329806 88329806 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 88329806 88329806 C T SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known silent c.2163 p.G721 0.564 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 21 4 16.00 12 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88330295 88330295 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 88330295 88330295 C T SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known silent c.2652 p.P884 0.724 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 37 25 40.32 69 0 0.00 SLITRK5 26050 genome.wustl.edu 37 13 88330416 88330416 + Missense_Mutation SNP G G T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 13 88330416 88330416 G T SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.2773 p.V925L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 19 11 36.67 41 0 0.00 SLITRK6 84189 genome.wustl.edu 37 13 86368132 86368132 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 13 86368132 86368132 C G SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.2512 p.E838Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 14 10 41.67 48 0 0.00 SLITRK6 84189 genome.wustl.edu 37 13 86368731 86368731 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 86368731 86368731 C T SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.1913 p.R638K 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 15 6 27.27 54 0 0.00 SLITRK6 84189 genome.wustl.edu 37 13 86368987 86368987 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 13 86368987 86368987 C T SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.1657 p.D553N 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 24 14 36.84 56 0 0.00 SLITRK6 84189 genome.wustl.edu 37 13 86369518 86369518 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 86369518 86369518 G A SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.1126 p.H376Y 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 54 15 21.74 88 0 0.00 SLITRK6 84189 genome.wustl.edu 37 13 86370018 86370018 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 86370018 86370018 C T SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.626 p.R209Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 20 4 16.67 28 0 0.00 SLK 9748 genome.wustl.edu 37 10 105727567 105727567 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105727567 105727567 G A SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.64 p.E22K 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 33 22 40.00 47 0 0.00 SLK 9748 genome.wustl.edu 37 10 105762554 105762554 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105762554 105762554 G T SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.1618 p.D540Y 0.005 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 14 4 22.22 32 0 0.00 SLK 9748 genome.wustl.edu 37 10 105763175 105763175 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 105763175 105763175 G T SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.2239 p.D747Y 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 12 3 20.00 35 0 0.00 SLK 9748 genome.wustl.edu 37 10 105768104 105768104 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105768104 105768104 G A SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.2774 p.R925Q 1.000 pfam_PKK,superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 4 6 60.00 14 0 0.00 SLMAP 7871 genome.wustl.edu 37 3 57847784 57847784 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 57847784 57847784 G C SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.937 p.E313Q 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 34 22 39.29 28 0 0.00 SLMAP 7871 genome.wustl.edu 37 3 57857404 57857404 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 57857404 57857404 C T SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.1228 p.H410Y 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 55 19 25.68 38 0 0.00 SLMAP 7871 genome.wustl.edu 37 3 57898234 57898234 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 57898234 57898234 C G SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.1775 p.A592G 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 52 12 18.75 69 0 0.00 SLMAP 7871 genome.wustl.edu 37 3 57898920 57898920 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 57898920 57898920 T A SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.2005 p.L669M 0.999 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 35 7 16.67 26 0 0.00 SLTM 79811 genome.wustl.edu 37 15 59182658 59182658 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 59182658 59182658 C T SNP SLTM ENST00000380516 human ensembl 70_37 -1 known missense c.1901 p.R634Q 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 31 12 27.91 32 0 0.00 SLTM 79811 genome.wustl.edu 37 15 59186369 59186369 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59186369 59186369 T C SNP SLTM ENST00000380516 human ensembl 70_37 -1 known silent c.1401 p.K467 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 42 40 48.78 74 0 0.00 SLTM 79811 genome.wustl.edu 37 15 59191016 59191016 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59191016 59191016 G C SNP SLTM ENST00000380516 human ensembl 70_37 -1 known missense c.1094 p.S365C 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 45 14 23.33 34 0 0.00 SLU7 10569 genome.wustl.edu 37 5 159842242 159842242 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 159842242 159842242 C T SNP SLU7 ENST00000297151 human ensembl 70_37 -1 known missense c.60 p.M20I 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 50 36 41.86 94 0 0.00 SLU7 10569 genome.wustl.edu 37 5 159842247 159842247 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 159842247 159842247 C T SNP SLU7 ENST00000297151 human ensembl 70_37 -1 known missense c.55 p.E19K 0.995 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 47 63 57.27 101 1 0.98 SLURP1 57152 genome.wustl.edu 37 8 143823321 143823321 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 143823321 143823321 G A SNP SLURP1 ENST00000246515 human ensembl 70_37 -1 known silent c.78 p.Y26 0.724 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SLURP1 HGNC ENSG00000126233 33 4 10.81 26 0 0.00 SLX4 84464 genome.wustl.edu 37 16 3632683 3632683 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 3632683 3632683 C G SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.5165 p.C1722S 0.005 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 47 32 40.51 51 0 0.00 SLX4 84464 genome.wustl.edu 37 16 3639021 3639021 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3639021 3639021 C T SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.4618 p.E1540K 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 38 22 36.67 41 0 0.00 SLX4 84464 genome.wustl.edu 37 16 3656621 3656621 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3656621 3656621 G A SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.614 p.T205I 0.017 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 31 4 11.43 27 0 0.00 SLX4IP 128710 genome.wustl.edu 37 20 10602039 10602039 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 10602039 10602039 C G SNP SLX4IP ENST00000334534 human ensembl 70_37 +1 known silent c.483 p.L161 0.037 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 73 22 23.16 141 0 0.00 SLX4IP 128710 genome.wustl.edu 37 20 10603872 10603872 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 10603872 10603872 G A SNP SLX4IP ENST00000334534 human ensembl 70_37 +1 known missense c.1072 p.E358K 1.000 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 31 5 13.89 14 0 0.00 SLX4IP 128710 genome.wustl.edu 37 20 10603903 10603903 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 10603903 10603903 G A SNP SLX4IP ENST00000334534 human ensembl 70_37 +1 known missense c.1103 p.R368K 0.992 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 31 6 16.22 9 0 0.00 SMAD1 4086 genome.wustl.edu 37 4 146435948 146435948 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 146435948 146435948 G A SNP SMAD1 ENST00000302085 human ensembl 70_37 +1 known silent c.183 p.P61 0.924 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 51 9 14.75 38 0 0.00 SMAD1 4086 genome.wustl.edu 37 4 146436153 146436153 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 146436153 146436153 G T SNP SMAD1 ENST00000302085 human ensembl 70_37 +1 known missense c.388 p.V130L 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 19 4 17.39 13 0 0.00 SMAD2 4087 genome.wustl.edu 37 18 45374926 45374926 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 45374926 45374926 G C SNP SMAD2 ENST00000262160 human ensembl 70_37 -1 known nonsense c.917 p.S306* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 35 21 37.50 57 0 0.00 SMAD3 4088 genome.wustl.edu 37 15 67457307 67457307 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 67457307 67457307 G A SNP SMAD3 ENST00000327367 human ensembl 70_37 +1 known nonsense c.281 p.W94* 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 36 16 30.77 26 0 0.00 SMAD3 4088 genome.wustl.edu 37 15 67457410 67457410 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 67457410 67457410 G C SNP SMAD3 ENST00000327367 human ensembl 70_37 +1 known missense c.384 p.Q128H 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 18 9 33.33 45 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48573511 48573511 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 48573511 48573511 G C SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.95 p.S32T 1.000 superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 35 7 16.67 62 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48575080 48575080 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 18 48575080 48575080 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.274 p.H92Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 13 45 77.59 113 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48575080 48575080 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 18 48575080 48575080 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.274 p.H92Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 7 42 84.00 44 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 7 29 80.56 58 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 48591919 48591919 G A SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1082 p.R361H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 22 59 72.84 47 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48591955 48591955 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 48591955 48591955 C G SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1118 p.T373R 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 43 19 30.65 55 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48593411 48593411 + Nonsense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 18 48593411 48593411 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known nonsense c.1162 p.Q388* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 12 19 61.29 46 0 0.00 SMAD4 4089 genome.wustl.edu 37 18 48603032 48603032 + Nonsense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 18 48603032 48603032 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known nonsense c.1333 p.R445* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 17 6 26.09 49 0 0.00 SMAD5 4090 genome.wustl.edu 37 5 135489845 135489845 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 135489845 135489845 G C SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known missense c.396 p.E132D 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC ENSG00000113658 36 19 34.55 54 0 0.00 SMAD5 4090 genome.wustl.edu 37 5 135513103 135513103 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 135513103 135513103 C T SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known nonsense c.1330 p.Q444* 1.000 superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC ENSG00000113658 33 7 17.50 48 0 0.00 SMAD5 4090 genome.wustl.edu 37 5 135513164 135513164 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 135513164 135513164 C T SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known missense c.1391 p.S464L 1.000 pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC ENSG00000113658 56 9 13.85 48 0 0.00 SMAD5 4090 genome.wustl.edu 37 5 135515156 135515157 + RNA INS - - AA TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 5 135515156 135515157 - AA INS SMAD5 ENST00000514641 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SMAD5 HGNC ENSG00000113658 39 5 11.36 29 0 0.00 SMAD5 4090 genome.wustl.edu 37 5 135515182 135515182 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 135515182 135515182 G T SNP SMAD5 ENST00000514641 human ensembl 70_37 +1 known rna NULL NULL 0.236 - - - no_errors SMAD5 HGNC ENSG00000113658 7 4 36.36 18 0 0.00 SMAD6 4091 genome.wustl.edu 37 15 67073399 67073399 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 67073399 67073399 C T SNP SMAD6 ENST00000288840 human ensembl 70_37 +1 known silent c.1017 p.H339 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 105 13 11.02 114 0 0.00 SMAD7 4092 genome.wustl.edu 37 18 46448173 46448173 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 46448173 46448173 G T SNP SMAD7 ENST00000262158 human ensembl 70_37 -1 known missense c.850 p.L284M 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 27 10 27.03 35 0 0.00 SMAGP 57228 genome.wustl.edu 37 12 51639742 51639742 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51639742 51639742 C G SNP SMAGP ENST00000380103 human ensembl 70_37 -1 known missense c.277 p.E93Q 1.000 NULL NULL - no_errors SMAGP HGNC ENSG00000170545 32 11 25.58 30 0 0.00 SMAP1 60682 genome.wustl.edu 37 6 71377740 71377740 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 71377740 71377740 C G SNP SMAP1 ENST00000370455 human ensembl 70_37 +1 known missense c.14 p.S5C 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 67 12 15.19 62 0 0.00 SMAP1 60682 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 70_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 40 7 14.89 41 0 0.00 SMAP2 64744 genome.wustl.edu 37 1 40879805 40879805 + RNA SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 40879805 40879805 C T SNP SMAP2 ENST00000487871 human ensembl 70_37 +1 known rna NULL NULL 0.123 - - - no_errors SMAP2 HGNC ENSG00000084070 23 11 32.35 29 0 0.00 SMAP2 64744 genome.wustl.edu 37 1 40881971 40881971 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40881971 40881971 C A SNP SMAP2 ENST00000372718 human ensembl 70_37 +1 known missense c.805 p.L269I 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 9 6 40.00 48 0 0.00 SMAP2 64744 genome.wustl.edu 37 1 40887752 40887752 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40887752 40887752 C T SNP SMAP2 ENST00000372718 human ensembl 70_37 +1 known silent c.1269 p.L423 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 21 15 41.67 36 0 0.00 SMARCA1 6594 genome.wustl.edu 37 X 128582408 128582408 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 128582408 128582408 G A SNP SMARCA1 ENST00000371122 human ensembl 70_37 -1 known missense c.3043 p.R1015C 1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 30 42 58.33 66 0 0.00 SMARCA1 6594 genome.wustl.edu 37 X 128615115 128615115 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 128615115 128615115 T C SNP SMARCA1 ENST00000371122 human ensembl 70_37 -1 known silent c.2265 p.A755 0.258 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 63 12 16.00 98 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2039779 2039779 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 9 2039779 2039779 G A SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known silent c.669 p.Q223 0.625 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 91 27 22.50 18 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2086856 2086856 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 2086856 2086856 G A SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.2554 p.E852K 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 53 11 17.19 55 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2104063 2104063 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 2104063 2104063 G C SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.3186 p.L1062F 0.999 pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 22 14 38.89 89 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2115948 2115948 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 2115948 2115948 G C SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.3583 p.D1195H 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 28 14 33.33 20 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2123739 2123739 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 2123739 2123739 G C SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known silent c.3783 p.R1261 0.800 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 19 16 45.71 24 0 0.00 SMARCA2 6595 genome.wustl.edu 37 9 2123896 2123896 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 9 2123896 2123896 G A SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.3940 p.V1314M 1.000 superfamily_RNaseH-like_dom pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 32 4 11.11 14 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11101918 11101918 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11101918 11101918 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1338 p.S446 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 12 16 57.14 23 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11105560 11105560 + Silent SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11105560 11105560 C A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1476 p.S492 0.010 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 79 20 20.20 84 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11106898 11106898 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 11106898 11106898 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.1603 p.E535K 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 24 19 44.19 39 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11106940 11106940 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 11106940 11106940 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.1645 p.R549C 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 44 8 15.38 55 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11106996 11106996 + Silent SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 11106996 11106996 G T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1701 p.L567 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 28 11 28.21 53 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11123682 11123682 + Missense_Mutation SNP G G C TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 19 11123682 11123682 G C SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.2332 p.A778P 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 34 13 27.66 46 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11129654 11129654 + Nonsense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 11129654 11129654 C A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known nonsense c.2460 p.Y820* 0.561 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 2 35 94.59 73 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11130308 11130308 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 11130308 11130308 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.2547 p.R849 0.569 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 25 4 13.79 42 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11134251 11134251 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 11134251 11134251 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.2917 p.R973W 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 11 24 68.57 26 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11134251 11134251 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 11134251 11134251 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.2917 p.R973W 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 11 5 31.25 19 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11170754 11170754 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11170754 11170754 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.4898 p.R1633Q 0.998 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 84 24 22.22 106 0 0.00 SMARCA4 6597 genome.wustl.edu 37 19 11172893 11172893 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 11172893 11172893 G A SNP SMARCA4 ENST00000586921 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors SMARCA4 HGNC ENSG00000127616 30 5 14.29 38 0 0.00 SMARCA5 8467 genome.wustl.edu 37 4 144456044 144456044 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144456044 144456044 G C SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known missense c.1195 p.D399H 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 44 41 48.24 68 0 0.00 SMARCA5 8467 genome.wustl.edu 37 4 144456055 144456055 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 144456055 144456055 G C SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known missense c.1206 p.K402N 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 43 35 44.30 68 0 0.00 SMARCA5 8467 genome.wustl.edu 37 4 144459762 144459762 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 144459762 144459762 C T SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known silent c.1515 p.F505 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 25 9 26.47 32 0 0.00 SMARCA5 8467 genome.wustl.edu 37 4 144469252 144469252 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 144469252 144469252 C T SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known nonsense c.2944 p.Q982* 1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 20 7 25.93 33 0 0.00 SMARCAD1 56916 genome.wustl.edu 37 4 95129564 95129564 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 95129564 95129564 G T SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.19 p.D7Y 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 15 7 31.82 15 0 0.00 SMARCAD1 56916 genome.wustl.edu 37 4 95147284 95147284 + Missense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 95147284 95147284 C G SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.205 p.P69A 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 24 11 30.56 26 0 0.00 SMARCAD1 56916 genome.wustl.edu 37 4 95155109 95155109 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 4 95155109 95155109 G A SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 73 9 10.98 87 0 0.00 SMARCAD1 56916 genome.wustl.edu 37 4 95174009 95174009 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 95174009 95174009 G A SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.1132 p.E378K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 104 29 21.80 147 0 0.00 SMARCAD1 56916 genome.wustl.edu 37 4 95199770 95199770 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 95199770 95199770 C G SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.2182 p.L728V 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 22 6 21.43 30 0 0.00 SMARCAL1 50485 genome.wustl.edu 37 2 217279674 217279674 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 217279674 217279674 G A SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known missense c.247 p.D83N 0.011 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 28 11 28.21 51 0 0.00 SMARCAL1 50485 genome.wustl.edu 37 2 217347478 217347478 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 217347478 217347478 G A SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known silent c.2643 p.K881 0.773 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 36 12 25.00 50 0 0.00 SMARCAL1 50485 genome.wustl.edu 37 2 217347643 217347643 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 217347643 217347643 G C SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known missense c.2808 p.Q936H 0.001 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 154 53 25.60 202 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24129408 24129408 + Nonsense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 24129408 24129408 C T SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known nonsense c.52 p.Q18* 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 40 8 16.67 29 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24143243 24143243 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 24143243 24143243 G A SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 15 5 25.00 66 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24143248 24143248 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 24143248 24143248 G A SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known silent c.480 p.K160 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 45 9 16.67 58 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24158946 24158946 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 24158946 24158946 C T SNP SMARCB1 ENST00000477836 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SMARCB1 HGNC ENSG00000099956 35 13 27.08 62 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24158954 24158954 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 24158954 24158954 C T SNP SMARCB1 ENST00000477836 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMARCB1 HGNC ENSG00000099956 41 8 16.33 86 0 0.00 SMARCB1 6598 genome.wustl.edu 37 22 24159068 24159068 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 24159068 24159068 C G SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known missense c.740 p.S247C 1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 21 12 36.36 44 0 0.00 SMARCC1 6599 genome.wustl.edu 37 3 47629584 47629584 + RNA SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 3 47629584 47629584 G T SNP SMARCC1 ENST00000425518 human ensembl 70_37 -1 known rna NULL NULL 0.467 - - - no_errors SMARCC1 HGNC ENSG00000173473 19 6 23.08 42 0 0.00 SMARCC1 6599 genome.wustl.edu 37 3 47629597 47629597 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 47629597 47629597 G A SNP SMARCC1 ENST00000425518 human ensembl 70_37 -1 known rna NULL NULL 0.905 - - - no_errors SMARCC1 HGNC ENSG00000173473 19 30 61.22 41 0 0.00 SMARCC1 6599 genome.wustl.edu 37 3 47703996 47703996 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 47703996 47703996 C G SNP SMARCC1 ENST00000254480 human ensembl 70_37 -1 known missense c.1986 p.L662F 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 46 27 36.99 119 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56558384 56558384 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 56558384 56558384 G T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3271 p.P1091T 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 43 19 30.65 40 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56558435 56558435 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 56558435 56558435 C T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3220 p.A1074T 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 32 17 34.69 73 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56559231 56559231 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 56559231 56559231 G C SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3010 p.P1004A 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 33 7 17.50 71 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56559333 56559333 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 56559333 56559333 G A SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known nonsense c.2908 p.Q970* 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 49 16 24.62 122 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56563372 56563372 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56563372 56563372 C T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.2563 p.E855K 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 54 36 40.00 65 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56563391 56563391 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 56563391 56563391 C G SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.2544 p.K848N 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 48 40 45.45 69 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56572822 56572822 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56572822 56572822 G C SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known nonsense c.1100 p.S367* 0.999 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 14 13 48.15 33 0 0.00 SMARCC2 6601 genome.wustl.edu 37 12 56575341 56575341 + Missense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 56575341 56575341 C A SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.881 p.G294V 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 123 14 10.22 113 0 0.00 SMARCD1 6602 genome.wustl.edu 37 12 50484356 50484356 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 50484356 50484356 C T SNP SMARCD1 ENST00000394963 human ensembl 70_37 +1 known silent c.1116 p.I372 1.000 superfamily_SWIB_MDM2_domain pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 39 7 15.22 37 0 0.00 SMARCD2 6603 genome.wustl.edu 37 17 61910333 61910333 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61910333 61910333 C A SNP SMARCD2 ENST00000448276 human ensembl 70_37 -1 known nonsense c.1561 p.E521* 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 66 17 20.48 69 0 0.00 SMARCD2 6603 genome.wustl.edu 37 17 61914582 61914582 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 61914582 61914582 C G SNP SMARCD2 ENST00000448276 human ensembl 70_37 -1 known missense c.417 p.K139N 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 30 11 26.83 32 0 0.00 SMARCD3 6604 genome.wustl.edu 37 7 150936713 150936713 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 150936713 150936713 G C SNP SMARCD3 ENST00000262188 human ensembl 70_37 -1 known silent c.1293 p.L431 0.983 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 43 8 15.69 50 0 0.00 SMARCD3 6604 genome.wustl.edu 37 7 150937513 150937513 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 150937513 150937513 G C SNP SMARCD3 ENST00000262188 human ensembl 70_37 -1 known missense c.1035 p.I345M 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 25 5 16.67 36 0 0.00 SMARCE1 6605 genome.wustl.edu 37 17 38785201 38785201 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38785201 38785201 C T SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known missense c.1072 p.E358K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SMARCE1 HGNC ENSG00000073584 71 37 34.26 67 0 0.00 SMARCE1 6605 genome.wustl.edu 37 17 38787059 38787059 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38787059 38787059 C T SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known missense c.934 p.E312K 0.996 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SMARCE1 HGNC ENSG00000073584 58 48 45.28 109 0 0.00 SMARCE1 6605 genome.wustl.edu 37 17 38788620 38788620 + Splice_Site SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 38788620 38788620 C G SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known splice_site c.542-1 e7-1 1.000 - - - no_errors SMARCE1 HGNC ENSG00000073584 21 9 30.00 49 0 0.00 SMC1A 8243 genome.wustl.edu 37 X 53407550 53407550 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 53407550 53407550 G C SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 24 7 22.58 46 0 0.00 SMC1A 8243 genome.wustl.edu 37 X 53430514 53430514 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 53430514 53430514 C T SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known missense c.2404 p.E802K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 11 2 15.38 19 0 0.00 SMC1A 8243 genome.wustl.edu 37 X 53430536 53430536 + Missense_Mutation SNP T T G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 53430536 53430536 T G SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known missense c.2382 p.E794D 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 83 13 13.40 72 0 0.00 SMC1A 8243 genome.wustl.edu 37 X 53438811 53438811 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 53438811 53438811 C G SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known missense c.1154 p.R385T 1.000 pfam_RecF/RecN/SMC,prints_Tropomyosin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 54 6 10.00 48 0 0.00 SMC1A 8243 genome.wustl.edu 37 X 53439973 53439973 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 53439973 53439973 G C SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known nonsense c.731 p.S244* 0.977 pfam_RecF/RecN/SMC,prints_Tropomyosin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 109 24 18.05 113 0 0.00 SMC1B 27127 genome.wustl.edu 37 22 45802378 45802378 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 45802378 45802378 G A SNP SMC1B ENST00000357450 human ensembl 70_37 -1 known missense c.578 p.A193V 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 36 44 55.00 63 0 0.00 SMC1B 27127 genome.wustl.edu 37 22 45802438 45802438 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 45802438 45802438 C G SNP SMC1B ENST00000357450 human ensembl 70_37 -1 known missense c.518 p.R173T 0.998 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 31 20 39.22 35 0 0.00 SMC2 10592 genome.wustl.edu 37 9 106875709 106875709 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 106875709 106875709 G A SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known missense c.1367 p.R456K 0.994 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 37 12 24.49 31 0 0.00 SMC2 10592 genome.wustl.edu 37 9 106882375 106882375 + Silent SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 106882375 106882375 G A SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known silent c.2064 p.L688 0.511 superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 49 14 22.22 59 0 0.00 SMC2 10592 genome.wustl.edu 37 9 106887246 106887246 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 106887246 106887246 G T SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known nonsense c.2311 p.E771* 1.000 NULL pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 14 4 22.22 18 0 0.00 SMC3 9126 genome.wustl.edu 37 10 112343202 112343202 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 112343202 112343202 G C SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.865 p.E289Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 27 11 28.95 26 0 0.00 SMC3 9126 genome.wustl.edu 37 10 112343217 112343217 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 112343217 112343217 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 29 13 30.95 30 0 0.00 SMC3 9126 genome.wustl.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 112349666 112349666 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.1426 p.E476K 1.000 pfam_RecF/RecN/SMC,superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 16 30 65.22 102 0 0.00 SMC3 9126 genome.wustl.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 112349666 112349666 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.1426 p.E476K 1.000 pfam_RecF/RecN/SMC,superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 6 32 82.05 36 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160117444 160117444 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 160117444 160117444 G C SNP SMC4 ENST00000472282 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMC4 HGNC ENSG00000113810 21 22 51.16 39 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160131375 160131375 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 160131375 160131375 G C SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.1095 p.K365N 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 51 14 21.54 36 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160135675 160135675 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 160135675 160135675 C G SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known silent c.1602 p.L534 0.977 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 9 6 40.00 33 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160142730 160142730 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 3 160142730 160142730 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.2401 p.E801K 1.000 pfam_RecF/RecN/SMC,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 78 11 12.36 58 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160146645 160146645 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 160146645 160146645 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.2710 p.D904N 1.000 pfam_RecF/RecN/SMC,superfamily_Prefoldin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 40 12 23.08 20 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160149569 160149569 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 160149569 160149569 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.3253 p.E1085K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 57 15 20.83 59 0 0.00 SMC4 10051 genome.wustl.edu 37 3 160150959 160150959 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 160150959 160150959 G C SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.3676 p.D1226H 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 65 37 36.27 66 0 0.00 SMC6 79677 genome.wustl.edu 37 2 17888515 17888515 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 17888515 17888515 G C SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.2055 p.F685L 0.772 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 14 19 57.58 20 0 0.00 SMC6 79677 genome.wustl.edu 37 2 17889941 17889941 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 17889941 17889941 C G SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.1888 p.D630H 1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 43 22 33.85 81 0 0.00 SMC6 79677 genome.wustl.edu 37 2 17897485 17897485 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 17897485 17897485 G A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known nonsense c.1471 p.Q491* 0.992 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 22 9 29.03 46 0 0.00 SMC6 79677 genome.wustl.edu 37 2 17902454 17902454 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 17902454 17902454 C A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.879 p.M293I 1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 95 53 35.81 150 0 0.00 SMC6 79677 genome.wustl.edu 37 2 17906593 17906593 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 17906593 17906593 C A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.735 p.M245I 1.000 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 18 3 14.29 18 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2656258 2656258 + Nonsense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 2656258 2656258 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known nonsense c.184 p.Q62* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 42 27 39.13 77 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2674066 2674066 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 2674066 2674066 G C SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 superfamily_ATPase-like_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 34 21 38.18 48 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2697930 2697930 + Silent SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 18 2697930 2697930 T C SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known silent c.1233 p.F411 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 23 6 20.69 34 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2707601 2707601 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 18 2707601 2707601 G A SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.2104 p.E702K 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 57 7 10.94 63 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2728529 2728529 + Nonsense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 18 2728529 2728529 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known nonsense c.2848 p.Q950* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 29 13 30.95 28 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2738531 2738531 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 18 2738531 2738531 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3413 p.A1138V 0.998 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 54 12 18.18 86 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2740770 2740770 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 2740770 2740770 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3584 p.S1195L 0.999 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 85 36 29.75 143 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2740790 2740790 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 18 2740790 2740790 G A SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3604 p.D1202N 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 64 12 15.79 74 0 0.00 SMCHD1 23347 genome.wustl.edu 37 18 2762231 2762231 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 2762231 2762231 C G SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.4563 p.I1521M 0.920 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 30 13 30.23 41 0 0.00 SMCP 4184 genome.wustl.edu 37 1 152857023 152857023 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152857023 152857023 G A SNP SMCP ENST00000368765 human ensembl 70_37 +1 known missense c.125 p.C42Y 0.052 NULL NULL - no_errors SMCP HGNC ENSG00000163206 232 59 20.21 221 0 0.00 SMCR2 140768 genome.wustl.edu 37 17 17577423 17577423 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 17577423 17577423 C G SNP SMCR2 ENST00000456090 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors SMCR2 HGNC ENSG00000223979 8 12 60.00 14 0 0.00 SMCR2 140768 genome.wustl.edu 37 17 17579606 17579606 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17579606 17579606 G A SNP SMCR2 ENST00000456090 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMCR2 HGNC ENSG00000223979 74 23 23.71 57 0 0.00 SMCR7 125170 genome.wustl.edu 37 17 18167278 18167278 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 18167278 18167278 G T SNP SMCR7 ENST00000323019 human ensembl 70_37 +1 known missense c.565 p.G189W 0.001 NULL NULL - no_errors SMCR7 HGNC ENSG00000177427 15 4 21.05 10 0 0.00 SMCR7L 54471 genome.wustl.edu 37 22 39908332 39908332 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 39908332 39908332 C G SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known missense c.418 p.L140V 0.998 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 38 16 29.63 43 0 0.00 SMCR7L 54471 genome.wustl.edu 37 22 39910172 39910172 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 22 39910172 39910172 G C SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known missense c.1236 p.L412F 0.996 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 18 16 47.06 31 0 0.00 SMCR7L 54471 genome.wustl.edu 37 22 39910184 39910184 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 39910184 39910184 C G SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known missense c.1248 p.I416M 1.000 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 13 11 45.83 26 0 0.00 SMCR7L 54471 genome.wustl.edu 37 22 39910250 39910250 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39910250 39910250 C T SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known silent c.1314 p.L438 0.998 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 36 20 35.71 36 0 0.00 SMCR8 140775 genome.wustl.edu 37 17 18219287 18219287 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18219287 18219287 G C SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known missense c.184 p.E62Q 0.999 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 17 13 43.33 24 0 0.00 SMCR8 140775 genome.wustl.edu 37 17 18219721 18219721 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 18219721 18219721 G A SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known silent c.618 p.R206 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 18 21 53.85 12 0 0.00 SMCR8 140775 genome.wustl.edu 37 17 18219778 18219778 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 18219778 18219778 C T SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known silent c.675 p.Y225 0.991 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 34 6 15.00 43 0 0.00 SMCR8 140775 genome.wustl.edu 37 17 18221437 18221437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18221437 18221437 G C SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known missense c.2334 p.Q778H 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 44 31 41.33 48 0 0.00 SMEK1 55671 genome.wustl.edu 37 14 91928486 91928486 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 91928486 91928486 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.2071 p.E691Q 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 38 28 42.42 67 0 0.00 SMEK1 55671 genome.wustl.edu 37 14 91929188 91929188 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 91929188 91929188 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.1864 p.E622Q 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 52 16 23.53 59 0 0.00 SMEK1 55671 genome.wustl.edu 37 14 91931636 91931636 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91931636 91931636 C T SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known silent c.1788 p.L596 0.999 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 87 31 26.27 129 1 0.77 SMEK1 55671 genome.wustl.edu 37 14 91943285 91943285 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 91943285 91943285 C T SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.961 p.E321K 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 58 8 12.12 68 0 0.00 SMEK1 55671 genome.wustl.edu 37 14 91948480 91948480 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 91948480 91948480 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.355 p.E119Q 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 16 8 33.33 47 0 0.00 SMEK1 55671 genome.wustl.edu 37 14 91952071 91952071 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 91952071 91952071 T G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.202 p.T68P 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 7 8 53.33 15 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55804494 55804494 + Splice_Site SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 55804494 55804494 T C SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known splice_site c.1469-2 e10-2 0.997 - - - no_errors SMEK2 HGNC ENSG00000138041 24 27 52.94 32 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55826043 55826043 + Nonsense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 55826043 55826043 C A SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known nonsense c.430 p.E144* 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 22 11 33.33 32 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55842570 55842570 + RNA SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 55842570 55842570 G C SNP SMEK2 ENST00000477749 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SMEK2 HGNC ENSG00000138041 28 12 30.00 45 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55842596 55842596 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 55842596 55842596 C T SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known silent c.189 p.Q63 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 20 18 47.37 43 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55844379 55844379 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 55844379 55844379 C T SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known missense c.43 p.E15K 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 41 34 45.33 45 0 0.00 SMEK2 57223 genome.wustl.edu 37 2 55844417 55844417 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 55844417 55844417 G A SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 48 38 44.19 84 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18820965 18820965 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 18820965 18820965 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.10915 p.D3639N 1.000 pfam_FATC,pfscan_FATC pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 155 118 43.22 266 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18826564 18826564 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 18826564 18826564 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.10557 p.V3519 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 26 25 49.02 22 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18826931 18826931 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18826931 18826931 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.10348 p.E3450K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 26 10 27.78 28 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18840660 18840660 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 18840660 18840660 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9551 p.S3184Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 37 17 31.48 25 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18840660 18840660 + Missense_Mutation SNP G G T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 18840660 18840660 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9551 p.S3184Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 38 9 19.15 62 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18841063 18841063 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 18841063 18841063 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9148 p.E3050K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 61 15 19.74 66 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18841282 18841282 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 18841282 18841282 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.9099 p.F3033 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 13 20 58.82 27 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18846284 18846284 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 18846284 18846284 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.8260 p.H2754N 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 16 20 55.56 58 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18848735 18848735 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 18848735 18848735 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.7444 p.L2482 1.000 superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 29 21 42.00 35 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18849892 18849892 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 18849892 18849892 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.7065 p.Y2355 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 14 6 30.00 16 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18849988 18849988 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 18849988 18849988 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.6969 p.V2323 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 50 8 13.79 44 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18859259 18859259 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 18859259 18859259 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.5720 p.S1907F 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 123 27 18.00 153 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18860627 18860627 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18860627 18860627 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.5535 p.L1845 0.965 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 43 12 21.82 34 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18863488 18863488 + Frame_Shift_Del DEL A A - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 18863488 18863488 A - DEL SMG1 ENST00000389467 human ensembl 70_37 -1 known frame_shift_del c.4953 p.E1652fs 0.992 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 46 11 19.30 28 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18865998 18865999 + Frame_Shift_Ins INS - - T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18865998 18865999 - T INS SMG1 ENST00000389467 human ensembl 70_37 -1 known frame_shift_ins c.4463_4462 p.T1488fs 1.000:1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 47 20 29.85 39 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18866005 18866005 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18866005 18866005 C G SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.4456 p.E1486Q 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 46 21 31.34 38 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18866113 18866113 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18866113 18866113 C A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known nonsense c.4348 p.E1450* 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 28 13 31.71 50 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18881956 18881956 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18881956 18881956 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known nonsense c.2468 p.S823* 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 135 34 20.12 135 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18881990 18881990 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 18881990 18881990 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.2434 p.R812C 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 161 54 24.88 233 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18902217 18902217 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 18902217 18902217 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.576 p.I192M 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 136 59 30.10 199 0 0.00 SMG1 23049 genome.wustl.edu 37 16 18937339 18937339 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 18937339 18937339 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.25 p.R9 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 32 10 23.81 21 0 0.00 SMG1P1 641298 genome.wustl.edu 37 16 22448669 22448669 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 22448669 22448669 G A SNP SMG1P1 ENST00000446662 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMG1P1 HGNC ENSG00000237296 20 11 35.48 27 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156219817 156219817 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156219817 156219817 C G SNP SMG5 ENST00000462362 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMG5 HGNC ENSG00000198952 9 5 35.71 13 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156220033 156220033 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156220033 156220033 C T SNP SMG5 ENST00000462362 human ensembl 70_37 -1 known rna NULL NULL 0.828 - - - no_errors SMG5 HGNC ENSG00000198952 13 10 43.48 21 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156228856 156228856 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 156228856 156228856 G C SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known silent c.2382 p.V794 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 19 15 44.12 29 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156236369 156236369 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 156236369 156236369 G A SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known silent c.1218 p.G406 0.948 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 59 20 25.32 92 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156238096 156238096 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156238096 156238096 G C SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known missense c.824 p.S275C 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 119 31 20.67 76 0 0.00 SMG5 23381 genome.wustl.edu 37 1 156238112 156238112 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 156238112 156238112 C T SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known missense c.808 p.E270K 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 75 18 19.35 97 0 0.00 SMG6 23293 genome.wustl.edu 37 17 1964523 1964523 + RNA SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 17 1964523 1964523 C T SNP SMG6 ENST00000570756 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SMG6 HGNC ENSG00000070366 25 13 34.21 38 0 0.00 SMG6 23293 genome.wustl.edu 37 17 1964759 1964760 + RNA INS - - G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 1964759 1964760 - G INS SMG6 ENST00000570756 human ensembl 70_37 -1 known rna NULL NULL 0.024:0.027 - - - no_errors SMG6 HGNC ENSG00000070366 12 5 29.41 10 0 0.00 SMG6 23293 genome.wustl.edu 37 17 1989089 1989089 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1989089 1989089 G A SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.3464 p.S1155L 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 35 11 23.91 42 0 0.00 SMG6 23293 genome.wustl.edu 37 17 1990372 1990372 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 1990372 1990372 G A SNP SMG6 ENST00000573166 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SMG6 HGNC ENSG00000070366 77 36 31.86 91 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2139835 2139835 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2139835 2139835 C G SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2820 p.L940 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 27 18 40.00 30 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2139835 2139835 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2139835 2139835 C G SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2820 p.L940 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 48 43 47.25 86 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2195915 2195915 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 2195915 2195915 C T SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2268 p.L756 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 157 60 27.65 230 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2196193 2196193 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 2196193 2196193 C T SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.2230 p.D744N 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 28 34 53.97 41 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2201213 2201213 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 2201213 2201213 G A SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.1984 p.P662S 1.000 pfam_EST1 pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 34 15 30.61 45 0 0.00 SMG6 23293 genome.wustl.edu 37 17 2201296 2201296 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 2201296 2201296 G C SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.1901 p.S634C 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 15 5 25.00 29 0 0.00 SMG7 9887 genome.wustl.edu 37 1 183515398 183515399 + Frame_Shift_Ins INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 183515398 183515399 - T INS SMG7 ENST00000507469 human ensembl 70_37 +1 known frame_shift_ins c.2530_2531 p.D845fs 0.013:0.939 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 44 7 13.73 29 0 0.00 SMG7 9887 genome.wustl.edu 37 1 183518411 183518411 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 183518411 183518411 C A SNP SMG7 ENST00000507469 human ensembl 70_37 +1 known missense c.2823 p.F941L 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 48 26 35.14 113 0 0.00 SMG7 9887 genome.wustl.edu 37 1 183520229 183520229 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 183520229 183520229 G A SNP SMG7 ENST00000507469 human ensembl 70_37 +1 known silent c.3216 p.E1072 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 25 16 39.02 37 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57287571 57287571 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 57287571 57287571 C A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.159 p.F53L 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 42 9 17.31 40 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57287808 57287808 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 57287808 57287808 C T SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known silent c.396 p.S132 0.905 NULL pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 44 21 32.31 34 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57288710 57288710 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 57288710 57288710 G A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.1298 p.R433K 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 28 20 41.67 42 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57289129 57289129 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 57289129 57289129 G A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.1717 p.D573N 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 9 3 25.00 21 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57290613 57290613 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 57290613 57290613 G C SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.2429 p.G810A 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 79 17 17.71 147 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57292169 57292169 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 57292169 57292169 C T SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known nonsense c.2782 p.Q928* 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 39 32 45.07 79 0 0.00 SMG8 55181 genome.wustl.edu 37 17 57292318 57292318 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 57292318 57292318 G C SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.2931 p.M977I 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 96 22 18.64 126 0 0.00 SMIM1 388588 genome.wustl.edu 37 1 3692044 3692044 + Missense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 3692044 3692044 G A SNP SMIM1 ENST00000561886 human ensembl 70_37 +1 putative missense c.107 p.R36H 0.031 NULL NULL - no_errors SMIM1 HGNC ENSG00000235169 9 16 64.00 68 0 0.00 SMIM2 79024 genome.wustl.edu 37 13 44734786 44734786 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 44734786 44734786 C G SNP SMIM2 ENST00000400419 human ensembl 70_37 -1 known missense c.206 p.R69T 0.984 NULL NULL - no_errors SMIM2 HGNC ENSG00000139656 86 70 44.87 105 0 0.00 SMIM4 440957 genome.wustl.edu 37 3 52570872 52570872 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 52570872 52570872 G T SNP SMIM4 ENST00000477703 human ensembl 70_37 +1 known missense c.101 p.G34V 0.997 NULL NULL - no_errors SMIM4 HGNC ENSG00000168273 45 11 19.64 68 0 0.00 SMIM7 79086 genome.wustl.edu 37 19 16757772 16757772 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 16757772 16757772 C T SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors SMIM7 HGNC ENSG00000214046 36 7 16.28 22 0 0.00 SMIM7 79086 genome.wustl.edu 37 19 16757848 16757848 + RNA SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 16757848 16757848 C G SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.079 - - - no_errors SMIM7 HGNC ENSG00000214046 45 8 15.09 40 0 0.00 SMIM7 79086 genome.wustl.edu 37 19 16758009 16758009 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 16758009 16758009 G C SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMIM7 HGNC ENSG00000214046 27 15 35.71 46 0 0.00 SMNDC1 10285 genome.wustl.edu 37 10 112058485 112058485 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 112058485 112058485 C G SNP SMNDC1 ENST00000369592 human ensembl 70_37 -1 known missense c.184 p.D62H 1.000 NULL pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC ENSG00000119953 20 12 37.50 42 0 0.00 SMO 6608 genome.wustl.edu 37 7 128845480 128845480 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 128845480 128845480 G A SNP SMO ENST00000249373 human ensembl 70_37 +1 known silent c.777 p.S259 0.676 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 41 9 18.00 115 0 0.00 SMO 6608 genome.wustl.edu 37 7 128845562 128845562 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 128845562 128845562 G C SNP SMO ENST00000249373 human ensembl 70_37 +1 known missense c.859 p.D287H 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 14 28 65.12 47 0 0.00 SMOC2 64094 genome.wustl.edu 37 6 168947799 168947799 + Missense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 168947799 168947799 A T SNP SMOC2 ENST00000354536 human ensembl 70_37 +1 known missense c.545 p.D182V 1.000 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 45 15 25.00 114 0 0.00 SMOC2 64094 genome.wustl.edu 37 6 169051402 169051402 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 169051402 169051402 C G SNP SMOC2 ENST00000354536 human ensembl 70_37 +1 known missense c.982 p.L328V 0.382 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 24 13 35.14 74 0 0.00 SMOX 54498 genome.wustl.edu 37 20 4155761 4155761 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 20 4155761 4155761 G A SNP SMOX ENST00000305958 human ensembl 70_37 +1 known missense c.59 p.R20Q 1.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 107 22 17.05 97 0 0.00 SMOX 54498 genome.wustl.edu 37 20 4162935 4162935 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4162935 4162935 C T SNP SMOX ENST00000305958 human ensembl 70_37 +1 known missense c.809 p.S270L 0.923 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 108 29 21.17 56 0 0.00 SMOX 54498 genome.wustl.edu 37 20 4163254 4163254 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 4163254 4163254 C T SNP SMOX ENST00000305958 human ensembl 70_37 +1 known silent c.1128 p.F376 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 33 22 40.00 80 0 0.00 SMOX 54498 genome.wustl.edu 37 20 4168036 4168036 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 4168036 4168036 C G SNP SMOX ENST00000305958 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 19 10 34.48 24 0 0.00 SMPD1 6609 genome.wustl.edu 37 11 6411941 6411941 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 6411941 6411941 C T SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known missense c.113 p.A38V 0.351 pirsf_Sphingomy_PDE pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 33 6 15.38 74 0 0.00 SMPD1 6609 genome.wustl.edu 37 11 6412643 6412643 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 6412643 6412643 C T SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known silent c.348 p.S116 0.000 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 4 12 75.00 17 0 0.00 SMPD1 6609 genome.wustl.edu 37 11 6412652 6412652 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6412652 6412652 C G SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known missense c.357 p.I119M 0.047 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 27 14 34.15 29 0 0.00 SMPD1 6609 genome.wustl.edu 37 11 6412747 6412747 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6412747 6412747 C G SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known nonsense c.452 p.S151* 1.000 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 23 12 34.29 20 0 0.00 SMPD2 6610 genome.wustl.edu 37 6 109762559 109762559 + Splice_Site DEL G G - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 109762559 109762559 G - DEL SMPD2 ENST00000258052 human ensembl 70_37 +1 known splice_site_del c.51-1 e2-1 1.000 - - - no_errors SMPD2 HGNC ENSG00000135587 17 2 10.53 43 0 0.00 SMPD2 6610 genome.wustl.edu 37 6 109763769 109763769 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 109763769 109763769 G A SNP SMPD2 ENST00000258052 human ensembl 70_37 +1 known silent c.432 p.Q144 0.984 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 66 23 25.84 117 0 0.00 SMPD3 55512 genome.wustl.edu 37 16 68398472 68398472 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 68398472 68398472 C T SNP SMPD3 ENST00000566009 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMPD3 HGNC ENSG00000103056 26 4 13.33 43 0 0.00 SMPD4 55627 genome.wustl.edu 37 2 130910400 130910400 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 130910400 130910400 G C SNP SMPD4 ENST00000409031 human ensembl 70_37 -1 known missense c.2329 p.R777G 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 49 12 19.35 57 0 0.00 SMPD4 55627 genome.wustl.edu 37 2 130910714 130910714 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 130910714 130910714 C A SNP SMPD4 ENST00000409031 human ensembl 70_37 -1 known nonsense c.2173 p.E725* 0.996 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 26 17 39.53 50 0 0.00 SMPDL3A 10924 genome.wustl.edu 37 6 123130386 123130386 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 123130386 123130386 G T SNP SMPDL3A ENST00000368440 human ensembl 70_37 +1 known missense c.1195 p.D399Y 0.036 pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 26 12 31.58 47 0 0.00 SMPDL3A 10924 genome.wustl.edu 37 6 123130433 123130433 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 123130433 123130433 T C SNP SMPDL3A ENST00000368440 human ensembl 70_37 +1 known silent c.1242 p.Y414 1.000 pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 33 17 34.00 58 0 0.00 SMPDL3B 27293 genome.wustl.edu 37 1 28282269 28282269 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 28282269 28282269 C G SNP SMPDL3B ENST00000373894 human ensembl 70_37 +1 known missense c.765 p.F255L 1.000 pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 49 7 12.50 35 0 0.00 SMR3A 26952 genome.wustl.edu 37 4 71232574 71232574 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 71232574 71232574 C G SNP SMR3A ENST00000226460 human ensembl 70_37 +1 known missense c.268 p.Q90E 0.003 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 17 98 84.48 105 0 0.00 SMS 6611 genome.wustl.edu 37 X 21958934 21958934 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 21958934 21958934 C T SNP SMS ENST00000478094 human ensembl 70_37 +1 known rna NULL NULL 0.893 - - - no_errors SMS HGNC ENSG00000102172 34 7 17.07 24 0 0.00 SMS 6611 genome.wustl.edu 37 X 21990688 21990688 + Nonsense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 21990688 21990688 C T SNP SMS ENST00000404933 human ensembl 70_37 +1 known nonsense c.328 p.R110* 0.996 NULL pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC ENSG00000102172 69 11 13.75 70 0 0.00 SMTN 6525 genome.wustl.edu 37 22 31484486 31484486 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 31484486 31484486 G A SNP SMTN ENST00000475548 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors SMTN HGNC ENSG00000183963 13 11 45.83 26 0 0.00 SMTN 6525 genome.wustl.edu 37 22 31484503 31484503 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 31484503 31484503 C T SNP SMTN ENST00000347557 human ensembl 70_37 +1 known nonsense c.205 p.Q69* 0.605 pfam_Smoothelin pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 22 13 37.14 29 0 0.00 SMTN 6525 genome.wustl.edu 37 22 31487222 31487222 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 22 31487222 31487222 G A SNP SMTN ENST00000347557 human ensembl 70_37 +1 known missense c.1213 p.A405T 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 11 2 15.38 17 0 0.00 SMTNL1 219537 genome.wustl.edu 37 11 57310724 57310724 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57310724 57310724 G A SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known silent c.663 p.Q221 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 23 21 47.73 30 0 0.00 SMTNL1 219537 genome.wustl.edu 37 11 57310740 57310740 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57310740 57310740 G C SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known missense c.679 p.D227H 0.010 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 24 26 52.00 30 0 0.00 SMTNL1 219537 genome.wustl.edu 37 11 57313464 57313464 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57313464 57313464 G A SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known missense c.1082 p.G361E 0.287 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 42 18 30.00 70 0 0.00 SMU1 55234 genome.wustl.edu 37 9 33073633 33073633 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 33073633 33073633 C T SNP SMU1 ENST00000397149 human ensembl 70_37 -1 known silent c.198 p.L66 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 20 16 44.44 47 0 0.00 SMUG1 23583 genome.wustl.edu 37 12 54577640 54577640 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 54577640 54577640 C G SNP SMUG1 ENST00000337581 human ensembl 70_37 -1 known missense c.85 p.E29Q 0.997 superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 13 4 23.53 25 0 0.00 SMURF1 57154 genome.wustl.edu 37 7 98638144 98638144 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 98638144 98638144 G A SNP SMURF1 ENST00000361125 human ensembl 70_37 -1 known silent c.1485 p.I495 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF1 HGNC ENSG00000198742 59 11 15.49 47 0 0.00 SMURF2 64750 genome.wustl.edu 37 17 62542010 62542010 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62542010 62542010 G C SNP SMURF2 ENST00000262435 human ensembl 70_37 -1 known missense c.2203 p.L735V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC ENSG00000108854 32 16 33.33 31 0 0.00 SMURF2 64750 genome.wustl.edu 37 17 62594576 62594576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62594576 62594576 C G SNP SMURF2 ENST00000262435 human ensembl 70_37 -1 known missense c.124 p.D42H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC ENSG00000108854 43 28 39.44 73 0 0.00 SMYD1 150572 genome.wustl.edu 37 2 88367422 88367422 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 2 88367422 88367422 C T SNP SMYD1 ENST00000419482 human ensembl 70_37 +1 known silent c.39 p.T13 0.182 smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 88 36 29.03 118 0 0.00 SMYD1 150572 genome.wustl.edu 37 2 88409911 88409911 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88409911 88409911 C T SNP SMYD1 ENST00000419482 human ensembl 70_37 +1 known silent c.1353 p.F451 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 25 6 19.35 29 0 0.00 SMYD3 64754 genome.wustl.edu 37 1 246670379 246670379 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 246670379 246670379 G A SNP SMYD3 ENST00000388985 human ensembl 70_37 -1 known silent c.141 p.V47 0.624 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 39 10 20.41 50 0 0.00 SMYD3-IT1 0 genome.wustl.edu 37 1 246485656 246485656 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 246485656 246485656 G A SNP SMYD3-IT1 ENST00000426929 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors SMYD3-IT1 HGNC ENSG00000230184 54 20 27.03 30 0 0.00 SMYD4 114826 genome.wustl.edu 37 17 1684631 1684631 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 1684631 1684631 C A SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.2364 p.M788I 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 92 48 34.29 101 0 0.00 SMYD4 114826 genome.wustl.edu 37 17 1703264 1703264 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703264 1703264 G A SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.1424 p.A475V 0.032 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 41 6 12.77 69 0 0.00 SMYD4 114826 genome.wustl.edu 37 17 1703353 1703353 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703353 1703353 G C SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known silent c.1335 p.L445 0.005 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 60 10 14.29 112 0 0.00 SMYD4 114826 genome.wustl.edu 37 17 1703679 1703679 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703679 1703679 G C SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.1009 p.L337V 0.001 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 39 12 23.53 69 0 0.00 SMYD5 10322 genome.wustl.edu 37 2 73447240 73447240 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 73447240 73447240 G A SNP SMYD5 ENST00000389501 human ensembl 70_37 +1 known silent c.267 p.G89 0.996 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 25 8 24.24 44 0 0.00 SMYD5 10322 genome.wustl.edu 37 2 73447240 73447240 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 73447240 73447240 G A SNP SMYD5 ENST00000389501 human ensembl 70_37 +1 known silent c.267 p.G89 0.996 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 37 11 22.92 37 0 0.00 SNAI1 6615 genome.wustl.edu 37 20 48604490 48604490 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 48604490 48604490 C G SNP SNAI1 ENST00000244050 human ensembl 70_37 +1 known nonsense c.692 p.S231* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 43 19 30.65 63 0 0.00 SNAI1 6615 genome.wustl.edu 37 20 48604538 48604538 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 48604538 48604538 G C SNP SNAI1 ENST00000244050 human ensembl 70_37 +1 known missense c.740 p.R247P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 60 42 41.18 106 0 0.00 SNAI3 333929 genome.wustl.edu 37 16 88744857 88744857 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 88744857 88744857 C T SNP SNAI3 ENST00000332281 human ensembl 70_37 -1 known silent c.878 p.*293 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 18 4 18.18 15 0 0.00 SNAI3 333929 genome.wustl.edu 37 16 88744885 88744885 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 88744885 88744885 C T SNP SNAI3 ENST00000332281 human ensembl 70_37 -1 known missense c.850 p.E284K 0.514 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 42 27 39.13 64 0 0.00 SNAI3-AS1 197187 genome.wustl.edu 37 16 88741249 88741249 + RNA SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 16 88741249 88741249 G A SNP SNAI3-AS1 ENST00000563475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAI3-AS1 HGNC ENSG00000260630 19 16 45.71 28 0 0.00 SNAP23 8773 genome.wustl.edu 37 15 42805600 42805600 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 42805600 42805600 C G SNP SNAP23 ENST00000249647 human ensembl 70_37 +1 known missense c.103 p.Q35E 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC ENSG00000092531 20 46 69.70 91 0 0.00 SNAP23 8773 genome.wustl.edu 37 15 42821973 42821973 + Nonsense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 15 42821973 42821973 G T SNP SNAP23 ENST00000249647 human ensembl 70_37 +1 known nonsense c.526 p.E176* 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC ENSG00000092531 21 5 19.23 15 0 0.00 SNAP25 6616 genome.wustl.edu 37 20 10258389 10258389 + RNA SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 10258389 10258389 T C SNP SNAP25 ENST00000492814 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SNAP25 HGNC ENSG00000132639 65 12 15.58 36 0 0.00 SNAP25 6616 genome.wustl.edu 37 20 10287971 10287971 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 10287971 10287971 G A SNP SNAP25 ENST00000495883 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNAP25 HGNC ENSG00000132639 20 14 41.18 45 0 0.00 SNAP29 9342 genome.wustl.edu 37 22 21237835 21237835 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 21237835 21237835 C T SNP SNAP29 ENST00000215730 human ensembl 70_37 +1 known silent c.597 p.H199 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP29 HGNC ENSG00000099940 51 16 23.88 61 0 0.00 SNAP47 116841 genome.wustl.edu 37 1 227920971 227920971 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 227920971 227920971 C T SNP SNAP47 ENST00000480265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC ENSG00000143740 9 5 35.71 12 0 0.00 SNAP47 116841 genome.wustl.edu 37 1 227921486 227921486 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 227921486 227921486 C G SNP SNAP47 ENST00000480265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC ENSG00000143740 22 11 33.33 20 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84269883 84269883 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 84269883 84269883 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known silent c.2571 p.V857 0.996 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 52 19 26.76 85 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84270627 84270627 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 84270627 84270627 C T SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.2482 p.A828T 0.037 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 36 4 10.00 28 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84290271 84290271 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 6 84290271 84290271 C T SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.2197 p.G733R 0.985 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 41 9 18.00 77 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84304150 84304150 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 84304150 84304150 C T SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.1375 p.A459T 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 64 8 11.11 80 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84317425 84317425 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 84317425 84317425 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.1015 p.P339S 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 84 15 15.15 72 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84317460 84317460 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 84317460 84317460 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.980 p.P327L 0.997 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 67 95 58.64 88 0 0.00 SNAP91 9892 genome.wustl.edu 37 6 84417533 84417533 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 84417533 84417533 C A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.114 p.K38N 1.000 pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 30 22 42.31 102 0 0.00 SNAPC1 6617 genome.wustl.edu 37 14 62248994 62248994 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 62248994 62248994 C G SNP SNAPC1 ENST00000216294 human ensembl 70_37 +1 known silent c.855 p.V285 0.196 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 25 16 39.02 20 0 0.00 SNAPC2 6618 genome.wustl.edu 37 19 7987549 7987549 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7987549 7987549 G A SNP SNAPC2 ENST00000221573 human ensembl 70_37 +1 known missense c.905 p.S302N 0.000 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 133 17 11.33 215 0 0.00 SNAPC2 6618 genome.wustl.edu 37 19 7987549 7987549 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7987549 7987549 G A SNP SNAPC2 ENST00000221573 human ensembl 70_37 +1 known missense c.905 p.S302N 0.000 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 39 6 13.33 32 0 0.00 SNAPC3 6619 genome.wustl.edu 37 9 15423037 15423037 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 15423037 15423037 C A SNP SNAPC3 ENST00000380821 human ensembl 70_37 +1 known missense c.160 p.R54S 0.989 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 45 19 29.69 41 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139272788 139272788 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 139272788 139272788 G A SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.3491 p.P1164L 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 41 10 19.23 68 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139276738 139276738 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 139276738 139276738 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.2034 p.L678 0.002 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 106 35 24.82 180 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139283032 139283032 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139283032 139283032 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.987 p.S329R 0.380 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 26 14 35.00 24 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139286555 139286555 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139286555 139286555 C G SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 10 11 52.38 28 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139287211 139287211 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139287211 139287211 C T SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.651 p.Q217 1.000 smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 22 14 38.89 32 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139290190 139290190 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139290190 139290190 G A SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.210 p.D70 0.194 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 12 9 42.86 33 0 0.00 SNAPC4 6621 genome.wustl.edu 37 9 139292753 139292753 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 139292753 139292753 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.128 p.A43G 0.842 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 26 15 36.59 44 0 0.00 SNAPC5 10302 genome.wustl.edu 37 15 66790039 66790039 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 66790039 66790039 C T SNP SNAPC5 ENST00000316634 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL NULL - no_errors SNAPC5 HGNC ENSG00000174446 69 40 36.70 150 0 0.00 SNCAIP 9627 genome.wustl.edu 37 5 121759246 121759246 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 121759246 121759246 G A SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known missense c.955 p.E319K 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 18 12 40.00 26 0 0.00 SNCAIP 9627 genome.wustl.edu 37 5 121776323 121776323 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 121776323 121776323 G T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known splice_site c.1438-1 e7-1 1.000 - - - no_errors SNCAIP HGNC ENSG00000064692 32 20 38.46 70 0 0.00 SNCAIP 9627 genome.wustl.edu 37 5 121786382 121786382 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 121786382 121786382 G T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known nonsense c.1981 p.E661* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 11 23 67.65 36 0 0.00 SNCAIP 9627 genome.wustl.edu 37 5 121786950 121786950 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 121786950 121786950 C T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known missense c.2549 p.S850F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 22 11 33.33 49 0 0.00 SNCG 6623 genome.wustl.edu 37 10 88719792 88719792 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 88719792 88719792 G A SNP SNCG ENST00000348795 human ensembl 70_37 +1 known missense c.250 p.E84K 0.989 NULL pfam_Synuclein,prints_Synuclein - no_errors SNCG HGNC ENSG00000173267 20 9 31.03 32 0 0.00 SNCG 6623 genome.wustl.edu 37 10 88719858 88719858 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 88719858 88719858 C T SNP SNCG ENST00000348795 human ensembl 70_37 +1 known missense c.316 p.R106C 0.002 NULL pfam_Synuclein,prints_Synuclein - no_errors SNCG HGNC ENSG00000173267 22 9 29.03 50 0 0.00 SNCG 6623 genome.wustl.edu 37 10 88722612 88722612 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 88722612 88722612 G A SNP SNCG ENST00000465679 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNCG HGNC ENSG00000173267 14 14 50.00 20 0 0.00 SND1 27044 genome.wustl.edu 37 7 127326700 127326700 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 127326700 127326700 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.112 p.Q38E 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 30 9 23.08 35 0 0.00 SND1 27044 genome.wustl.edu 37 7 127326700 127326700 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 127326700 127326700 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.112 p.Q38E 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 25 13 34.21 70 0 0.00 SND1 27044 genome.wustl.edu 37 7 127334894 127334894 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 127334894 127334894 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.241 p.P81A 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 33 21 38.89 61 0 0.00 SND1 27044 genome.wustl.edu 37 7 127343372 127343372 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 127343372 127343372 C T SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.835 p.H279Y 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 26 14 35.00 55 0 0.00 SND1 27044 genome.wustl.edu 37 7 127447549 127447549 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 127447549 127447549 G C SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.1164 p.K388N 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 14 8 36.36 31 0 0.00 SND1 27044 genome.wustl.edu 37 7 127637781 127637781 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 127637781 127637781 G A SNP SND1 ENST00000467238 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SND1 HGNC ENSG00000197157 63 45 41.67 61 0 0.00 SND1 27044 genome.wustl.edu 37 7 127725781 127725781 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 127725781 127725781 G A SNP SND1 ENST00000354725 human ensembl 70_37 +1 known silent c.2253 p.E751 1.000 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 37 20 35.09 57 0 0.00 SND1 27044 genome.wustl.edu 37 7 127725826 127725826 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 127725826 127725826 C T SNP SND1 ENST00000354725 human ensembl 70_37 +1 known silent c.2298 p.Y766 0.986 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 12 4 25.00 44 0 0.00 SND1 27044 genome.wustl.edu 37 7 127732189 127732189 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 127732189 127732189 A C SNP SND1 ENST00000485871 human ensembl 70_37 +1 known rna NULL NULL 0.842 - - - no_errors SND1 HGNC ENSG00000197157 12 7 36.84 16 0 0.00 SNED1 25992 genome.wustl.edu 37 2 241969734 241969734 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 241969734 241969734 G C SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.247 p.E83Q 1.000 NULL pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 25 36 59.02 100 1 0.99 SNED1 25992 genome.wustl.edu 37 2 241991561 241991561 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 241991561 241991561 G A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known silent c.1956 p.R652 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 28 24 46.15 64 0 0.00 SNED1 25992 genome.wustl.edu 37 2 241992704 241992704 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 241992704 241992704 C A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2218 p.Q740K 0.837 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 12 5 29.41 18 0 0.00 SNED1 25992 genome.wustl.edu 37 2 242003111 242003111 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 242003111 242003111 G C SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2479 p.E827Q 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 27 3 10.00 41 0 0.00 SNED1 25992 genome.wustl.edu 37 2 242004841 242004841 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 242004841 242004841 C T SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2840 p.S947F 0.047 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 37 11 22.92 30 0 0.00 SNED1 25992 genome.wustl.edu 37 2 242007304 242007304 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 242007304 242007304 G A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.3136 p.E1046K 0.882 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 27 20 42.55 56 0 0.00 SNF8 11267 genome.wustl.edu 37 17 47007747 47007747 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 47007747 47007747 T C SNP SNF8 ENST00000514089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNF8 HGNC ENSG00000159210 34 4 10.53 36 0 0.00 SNF8 11267 genome.wustl.edu 37 17 47014436 47014436 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 47014436 47014436 C T SNP SNF8 ENST00000502492 human ensembl 70_37 -1 known missense c.295 p.E99K 1.000 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC ENSG00000159210 14 10 41.67 39 0 0.00 SNHG1 23642 genome.wustl.edu 37 11 62621506 62621506 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62621506 62621506 C T SNP SNHG1 ENST00000537068 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC ENSG00000255717 31 16 34.04 56 0 0.00 SNHG11 128439 genome.wustl.edu 37 20 37075540 37075540 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 37075540 37075540 G A SNP SNHG11 ENST00000359074 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG11 HGNC ENSG00000174365 56 45 44.55 65 0 0.00 SNHG11 128439 genome.wustl.edu 37 20 37076969 37076969 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 37076969 37076969 C A SNP SNHG11 ENST00000400436 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors SNHG11 HGNC ENSG00000174365 41 5 10.87 38 0 0.00 SNHG12 85028 genome.wustl.edu 37 1 28907222 28907222 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 28907222 28907222 G A SNP SNHG12 ENST00000464612 human ensembl 70_37 -1 known rna NULL NULL 0.156 - - - no_errors SNHG12 HGNC ENSG00000197989 13 3 18.75 24 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25304842 25304842 + RNA SNP T T A TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 15 25304842 25304842 T A SNP SNHG14 ENST00000549804 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 17 5 22.73 44 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25319091 25319091 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 25319091 25319091 C T SNP SNHG14 ENST00000549804 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 12 9 42.86 9 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25430615 25430615 + RNA SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 15 25430615 25430615 G A SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 8 16 66.67 19 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25438641 25438641 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 25438641 25438641 G C SNP SNHG14 ENST00000456576 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 17 12 41.38 20 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25442572 25442572 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 25442572 25442572 G A SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 25 3 10.71 37 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25446309 25446309 + RNA SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 25446309 25446309 T C SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 18 9 33.33 44 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25456838 25456838 + RNA SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 25456838 25456838 T C SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC ENSG00000224078 30 17 35.42 58 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25458629 25458629 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 25458629 25458629 G A SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 7 4 36.36 25 0 0.00 SNHG14 0 genome.wustl.edu 37 15 25477868 25477868 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 15 25477868 25477868 G A SNP SNHG14 ENST00000453082 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 40 25 38.46 26 0 0.00 SNHG16 100507246 genome.wustl.edu 37 17 74554514 74554514 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 74554514 74554514 G T SNP SNHG16 ENST00000586846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 81 46 36.22 31 0 0.00 SNHG3 8420 genome.wustl.edu 37 1 28835342 28835342 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28835342 28835342 G A SNP SNHG3 ENST00000413987 human ensembl 70_37 +1 known rna NULL NULL 0.856 - - - no_errors SNHG3 HGNC ENSG00000242125 27 6 18.18 28 0 0.00 SNHG5 387066 genome.wustl.edu 37 6 86387171 86387171 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 86387171 86387171 G C SNP SNHG5 ENST00000369605 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG5 HGNC ENSG00000203875 8 9 52.94 25 0 0.00 SNIP1 79753 genome.wustl.edu 37 1 38005984 38005984 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38005984 38005984 C G SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known missense c.700 p.E234Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 95 18 15.93 130 0 0.00 SNIP1 79753 genome.wustl.edu 37 1 38019729 38019729 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38019729 38019729 G C SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known silent c.102 p.L34 0.725 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 46 15 24.59 69 0 0.00 SNIP1 79753 genome.wustl.edu 37 1 38019744 38019744 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 38019744 38019744 C T SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known silent c.87 p.V29 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 40 9 18.37 48 0 0.00 SNN 8303 genome.wustl.edu 37 16 11770038 11770038 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 11770038 11770038 C T SNP SNN ENST00000329565 human ensembl 70_37 +1 known silent c.123 p.I41 1.000 pfam_SNN_linker pfam_SNN_transmemb,pfam_SNN_linker,pfam_SNN_cytoplasm - no_errors SNN HGNC ENSG00000184602 20 8 28.57 26 0 0.00 SNORA10 574042 genome.wustl.edu 37 16 2012342 2012342 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 16 2012342 2012342 G A SNP SNORA10 ENST00000384084 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORA10 HGNC ENSG00000206811 57 10 14.93 55 0 0.00 SNORA11 677799 genome.wustl.edu 37 X 54840906 54840906 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 54840906 54840906 C T SNP SNORA11 ENST00000408789 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORA11 HGNC ENSG00000221716 157 50 24.15 143 0 0.00 SNORA17 677804 genome.wustl.edu 37 9 139621328 139621329 + RNA INS - - A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 139621328 139621329 - A INS SNORA17 ENST00000391185 human ensembl 70_37 -1 known rna NULL NULL 1.000:0.995 - - - no_errors SNORA17 HGNC ENSG00000212487 29 19 39.58 66 0 0.00 SNORA19 641451 genome.wustl.edu 37 10 120819626 120819626 + RNA SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 120819626 120819626 G C SNP SNORA19 ENST00000384737 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors SNORA19 HGNC ENSG00000207468 12 5 29.41 33 0 0.00 SNORA32 692063 genome.wustl.edu 37 11 93464199 93464199 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 93464199 93464199 G A SNP SNORA32 ENST00000384072 human ensembl 70_37 -1 known rna NULL NULL 0.531 - - - no_errors SNORA32 HGNC ENSG00000206799 25 16 39.02 32 0 0.00 SNORA45 677826 genome.wustl.edu 37 11 8707066 8707066 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 8707066 8707066 C T SNP SNORA45 ENST00000391305 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA45 HGNC ENSG00000212607 30 37 54.41 57 0 0.00 SNORA45 677826 genome.wustl.edu 37 11 8707103 8707103 + RNA SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 8707103 8707103 G T SNP SNORA45 ENST00000391305 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORA45 HGNC ENSG00000212607 42 16 27.59 103 0 0.00 SNORA51 677831 genome.wustl.edu 37 20 2635760 2635760 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 2635760 2635760 G C SNP SNORA51 ENST00000384696 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA51 HGNC ENSG00000207427 51 36 41.38 56 0 0.00 SNORA57 692158 genome.wustl.edu 37 11 62433026 62433026 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62433026 62433026 C T SNP SNORA57 ENST00000383870 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORA57 HGNC ENSG00000206597 21 12 36.36 30 0 0.00 SNORA6 574040 genome.wustl.edu 37 3 39449940 39449940 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 39449940 39449940 G A SNP SNORA6 ENST00000384033 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA6 HGNC ENSG00000206760 49 41 45.05 75 0 0.00 SNORA65 26783 genome.wustl.edu 37 9 130210804 130210804 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 130210804 130210804 G C SNP SNORA65 ENST00000364432 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA65 HGNC ENSG00000201302 38 40 51.28 37 0 0.00 SNORA67 26781 genome.wustl.edu 37 17 7482445 7482445 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 7482445 7482445 G C SNP SNORA67 ENST00000581621 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-186B7.4 Clone_based_vega_gene ENSG00000264772 22 16 42.11 27 0 0.00 SNORA71D 677840 genome.wustl.edu 37 20 37062622 37062622 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 37062622 37062622 G A SNP SNORA71D ENST00000363484 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors SNORA71D HGNC ENSG00000200354 161 46 22.22 142 0 0.00 SNORA71D 677840 genome.wustl.edu 37 20 37062622 37062622 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 37062622 37062622 G A SNP SNORA71D ENST00000363484 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors SNORA71D HGNC ENSG00000200354 42 9 17.65 29 0 0.00 SNORD105 692229 genome.wustl.edu 37 19 10218370 10218370 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 10218370 10218370 G C SNP SNORD105 ENST00000386910 human ensembl 70_37 +1 known rna NULL NULL 0.798 - - - no_errors SNORD105 HGNC ENSG00000209645 165 35 17.50 232 0 0.00 SNORD111B 100113402 genome.wustl.edu 37 16 70563471 70563471 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70563471 70563471 T G SNP SNORD111B ENST00000408587 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors SNORD111B HGNC ENSG00000221514 8 4 33.33 14 0 0.00 SNORD113-1 767561 genome.wustl.edu 37 14 101391163 101391163 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 101391163 101391163 G A SNP SNORD113-1 ENST00000365321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD113-1 HGNC ENSG00000202191 8 13 61.90 26 0 0.00 SNORD113-4 767564 genome.wustl.edu 37 14 101402840 101402840 + RNA SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 101402840 101402840 G A SNP SNORD113-4 ENST00000364802 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD113-4 HGNC ENSG00000201672 30 4 11.76 31 0 0.00 SNORD114-1 767577 genome.wustl.edu 37 14 101416185 101416185 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 101416185 101416185 G C SNP SNORD114-1 ENST00000362705 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-1 HGNC ENSG00000199575 19 7 26.92 35 0 0.00 SNORD114-13 767591 genome.wustl.edu 37 14 101436281 101436281 + RNA SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 101436281 101436281 G A SNP SNORD114-13 ENST00000364377 human ensembl 70_37 +1 known rna NULL NULL 0.066 - - - no_errors SNORD114-13 HGNC ENSG00000201247 40 8 16.67 64 0 0.00 SNORD114-17 767595 genome.wustl.edu 37 14 101441171 101441171 + RNA SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 101441171 101441171 G T SNP SNORD114-17 ENST00000364699 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD114-17 HGNC ENSG00000201569 23 4 14.81 20 0 0.00 SNORD114-20 767598 genome.wustl.edu 37 14 101447404 101447404 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 101447404 101447404 G A SNP SNORD114-20 ENST00000365178 human ensembl 70_37 +1 known rna NULL NULL 0.894 - - - no_errors SNORD114-20 HGNC ENSG00000202048 29 21 42.00 42 0 0.00 SNORD114-22 767600 genome.wustl.edu 37 14 101449326 101449326 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 101449326 101449326 G A SNP SNORD114-22 ENST00000365423 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SNORD114-22 HGNC ENSG00000202293 39 11 22.00 64 0 0.00 SNORD115-1 338433 genome.wustl.edu 37 15 25415913 25415913 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25415913 25415913 G T SNP SNORD115-1 ENST00000364961 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD115-1 HGNC ENSG00000201831 16 12 42.86 46 0 0.00 SNORD115-12 100033449 genome.wustl.edu 37 15 25436571 25436571 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 25436571 25436571 G C SNP SNORD115-12 ENST00000362583 human ensembl 70_37 +1 known rna NULL NULL 0.876 - - - no_errors SNORD115-12 HGNC ENSG00000199453 83 10 10.75 177 0 0.00 SNORD115-14 100033451 genome.wustl.edu 37 15 25440072 25440072 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 15 25440072 25440072 C T SNP SNORD115-14 ENST00000363090 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors SNORD115-14 HGNC ENSG00000199960 59 33 35.87 89 0 0.00 SNORD115-26 100033802 genome.wustl.edu 37 15 25463777 25463777 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 25463777 25463777 G C SNP SNORD115-26 ENST00000365067 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors SNORD115-26 HGNC ENSG00000201937 39 23 37.10 93 0 0.00 SNORD115-32 100033806 genome.wustl.edu 37 15 25474139 25474139 + RNA SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 15 25474139 25474139 G T SNP SNORD115-32 ENST00000364079 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD115-32 HGNC ENSG00000200949 6 32 84.21 43 0 0.00 SNORD115-36 100033810 genome.wustl.edu 37 15 25481240 25481240 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 25481240 25481240 G A SNP SNORD115-36 ENST00000365629 human ensembl 70_37 +1 known rna NULL NULL 0.888 - - - no_errors SNORD115-36 HGNC ENSG00000202499 58 21 26.58 102 0 0.00 SNORD115-36 100033810 genome.wustl.edu 37 15 25481267 25481267 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 15 25481267 25481267 G A SNP SNORD115-36 ENST00000365629 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORD115-36 HGNC ENSG00000202499 101 16 13.68 118 0 0.00 SNORD115-38 100033812 genome.wustl.edu 37 15 25484993 25484993 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 25484993 25484993 G A SNP SNORD115-38 ENST00000365037 human ensembl 70_37 +1 known rna NULL NULL 0.287 - - - no_errors SNORD115-38 HGNC ENSG00000201907 84 28 25.00 68 0 0.00 SNORD115-38 100033812 genome.wustl.edu 37 15 25485057 25485057 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25485057 25485057 G A SNP SNORD115-38 ENST00000365037 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors SNORD115-38 HGNC ENSG00000201907 32 13 28.89 71 0 0.00 SNORD115-4 100033441 genome.wustl.edu 37 15 25421989 25421989 + RNA SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 25421989 25421989 T C SNP SNORD115-4 ENST00000363810 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD115-4 HGNC ENSG00000200680 83 13 13.54 105 0 0.00 SNORD116-20 100033431 genome.wustl.edu 37 15 25332843 25332843 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 25332843 25332843 G A SNP SNORD116-20 ENST00000384529 human ensembl 70_37 +1 known rna NULL NULL 0.966 - - - no_errors SNORD116-20 HGNC ENSG00000207259 125 27 17.76 122 0 0.00 SNORD116-20 100033431 genome.wustl.edu 37 15 25332850 25332850 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 25332850 25332850 G A SNP SNORD116-20 ENST00000384529 human ensembl 70_37 +1 known rna NULL NULL 0.976 - - - no_errors SNORD116-20 HGNC ENSG00000207259 123 30 19.61 122 0 0.00 SNORD116-8 100033420 genome.wustl.edu 37 15 25315632 25315632 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 25315632 25315632 G C SNP SNORD116-8 ENST00000384365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-8 HGNC ENSG00000207093 84 33 28.21 104 0 0.00 SNORD21 6083 genome.wustl.edu 37 1 93302932 93302932 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 93302932 93302932 G C SNP SNORD21 ENST00000383953 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD21 HGNC ENSG00000206680 52 11 17.46 67 0 0.00 SNORD22 9304 genome.wustl.edu 37 11 62620500 62620500 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 62620500 62620500 C T SNP SNORD22 ENST00000384756 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD22 HGNC ENSG00000207487 29 17 36.96 20 0 0.00 SNORD30 9299 genome.wustl.edu 37 11 62621156 62621156 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62621156 62621156 C T SNP SNORD30 ENST00000384693 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD30 HGNC ENSG00000207424 114 37 24.50 150 0 0.00 SNORD32A 26819 genome.wustl.edu 37 19 49993274 49993274 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49993274 49993274 G C SNP SNORD32A ENST00000364805 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD32A HGNC ENSG00000201675 104 31 22.79 105 0 0.00 SNORD3A 780851 genome.wustl.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 19091383 19091383 G A SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors SNORD3A HGNC ENSG00000202364 235 39 14.23 328 0 0.00 SNORD3A 780851 genome.wustl.edu 37 17 19091431 19091431 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 19091431 19091431 C T SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.785 - - - no_errors SNORD3A HGNC ENSG00000202364 531 66 11.06 535 0 0.00 SNORD3A 780851 genome.wustl.edu 37 17 19091487 19091487 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 19091487 19091487 G C SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.949 - - - no_errors SNORD3A HGNC ENSG00000202364 91 18 16.36 111 0 0.00 SNORD3A 780851 genome.wustl.edu 37 17 19091539 19091539 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 19091539 19091539 G C SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.714 - - - no_errors SNORD3A HGNC ENSG00000202364 100 16 13.79 105 0 0.00 SNORD3B-1 26851 genome.wustl.edu 37 17 18965389 18965389 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 18965389 18965389 C T SNP SNORD3B-1 ENST00000363359 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors SNORD3B-1 HGNC ENSG00000200229 77 11 12.50 66 0 0.00 SNORD3B-1 26851 genome.wustl.edu 37 17 18965389 18965389 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 18965389 18965389 C T SNP SNORD3B-1 ENST00000363359 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors SNORD3B-1 HGNC ENSG00000200229 80 10 11.11 36 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18965611 18965611 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 18965611 18965611 G A SNP SNORD3B-2 ENST00000577988 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SNORD3B-1 Clone_based_vega_gene ENSG00000265185 44 10 18.52 35 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18965611 18965611 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18965611 18965611 G C SNP SNORD3B-2 ENST00000577988 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SNORD3B-1 Clone_based_vega_gene ENSG00000265185 21 6 22.22 24 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18967104 18967104 + RNA SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 18967104 18967104 C G SNP SNORD3B-2 ENST00000571722 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 Clone_based_vega_gene ENSG00000262074 38 7 15.56 41 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18967183 18967183 + RNA SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 18967183 18967183 C G SNP SNORD3B-2 ENST00000571722 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 Clone_based_vega_gene ENSG00000262074 114 15 11.63 147 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18967291 18967291 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18967291 18967291 C G SNP SNORD3B-2 ENST00000364880 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors SNORD3B-2 HGNC ENSG00000201750 52 9 14.75 79 0 0.00 SNORD3B-2 780852 genome.wustl.edu 37 17 18967372 18967372 + RNA SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 18967372 18967372 G T SNP SNORD3B-2 ENST00000364880 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors SNORD3B-2 HGNC ENSG00000201750 7 4 36.36 11 0 0.00 SNORD3D 780854 genome.wustl.edu 37 17 19015709 19015709 + RNA SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 19015709 19015709 T C SNP SNORD3D ENST00000573866 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-160E2.6 Clone_based_vega_gene ENSG00000262202 21 3 12.50 33 0 0.00 SNORD3D 780854 genome.wustl.edu 37 17 19015724 19015724 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19015724 19015724 G C SNP SNORD3D ENST00000573866 human ensembl 70_37 -1 known rna NULL NULL 0.038 - - - no_errors RP11-160E2.6 Clone_based_vega_gene ENSG00000262202 41 5 10.87 33 0 0.00 SNORD3D 780854 genome.wustl.edu 37 17 19015785 19015785 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 19015785 19015785 G A SNP SNORD3D ENST00000362793 human ensembl 70_37 -1 known rna NULL NULL 0.037 - - - no_errors SNORD3D HGNC ENSG00000199663 29 6 17.14 31 0 0.00 SNORD4A 26773 genome.wustl.edu 37 17 27049642 27049642 + RNA SNP A A T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 27049642 27049642 A T SNP SNORD4A ENST00000459174 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD4A HGNC ENSG00000238578 54 9 14.29 56 0 0.00 SNORD54 26795 genome.wustl.edu 37 8 56986433 56986433 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 56986433 56986433 C G SNP SNORD54 ENST00000459159 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors SNORD54 HGNC ENSG00000238650 11 3 21.43 23 0 0.00 SNORD57 26792 genome.wustl.edu 37 20 2637610 2637610 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2637610 2637610 G C SNP SNORD57 ENST00000384532 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD57 RFAM ENSG00000207262 94 27 22.31 53 0 0.00 SNORD6 692075 genome.wustl.edu 37 11 93464721 93464721 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 93464721 93464721 C T SNP SNORD6 ENST00000365444 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD6 HGNC ENSG00000202314 44 6 12.00 64 0 0.00 SNORD67 692108 genome.wustl.edu 37 11 46783966 46783966 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46783966 46783966 G A SNP SNORD67 ENST00000390833 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD67 HGNC ENSG00000212135 291 141 32.64 474 0 0.00 SNORD82 25826 genome.wustl.edu 37 2 232325126 232325126 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232325126 232325126 T C SNP SNORD82 ENST00000365530 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD82 HGNC ENSG00000202400 234 58 19.86 221 0 0.00 SNORD82 25826 genome.wustl.edu 37 2 232325126 232325126 + RNA SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 232325126 232325126 T C SNP SNORD82 ENST00000365530 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD82 HGNC ENSG00000202400 37 14 27.45 35 0 0.00 SNORD90 692206 genome.wustl.edu 37 9 125642499 125642499 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 125642499 125642499 C G SNP SNORD90 ENST00000391145 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD90 HGNC ENSG00000212447 42 7 14.00 43 0 0.00 SNORD93 692210 genome.wustl.edu 37 7 22896271 22896271 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 22896271 22896271 C T SNP SNORD93 ENST00000408813 human ensembl 70_37 +1 known rna NULL NULL 0.865 - - - no_errors SNORD93 HGNC ENSG00000221740 119 71 37.37 184 0 0.00 SNPH 9751 genome.wustl.edu 37 20 1285974 1285974 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 1285974 1285974 G A SNP SNPH ENST00000381867 human ensembl 70_37 +1 known missense c.893 p.R298Q 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 17 10 37.04 25 0 0.00 SNRK 54861 genome.wustl.edu 37 3 43388892 43388892 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 43388892 43388892 C G SNP SNRK ENST00000296088 human ensembl 70_37 +1 known missense c.1141 p.P381A 0.982 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SNRK HGNC ENSG00000163788 52 31 37.35 65 0 0.00 SNRNP200 23020 genome.wustl.edu 37 2 96940773 96940773 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 96940773 96940773 C G SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known missense c.6388 p.E2130Q 0.999 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 38 5 11.63 73 0 0.00 SNRNP200 23020 genome.wustl.edu 37 2 96944427 96944427 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 96944427 96944427 C T SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.5346 p.S1782 0.985 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 42 17 28.81 41 0 0.00 SNRNP200 23020 genome.wustl.edu 37 2 96950262 96950262 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 96950262 96950262 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known missense c.4226 p.T1409I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 56 40 41.67 103 0 0.00 SNRNP200 23020 genome.wustl.edu 37 2 96957551 96957551 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 96957551 96957551 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.2248 p.L750 0.977 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 42 19 31.15 54 0 0.00 SNRNP200 23020 genome.wustl.edu 37 2 96970571 96970571 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 96970571 96970571 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.81 p.L27 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 44 18 29.03 81 0 0.00 SNRNP27 11017 genome.wustl.edu 37 2 70122315 70122315 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 2 70122315 70122315 C T SNP SNRNP27 ENST00000244227 human ensembl 70_37 +1 known missense c.124 p.R42C 1.000 pfam_DUF1777 pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 105 28 21.05 102 0 0.00 SNRNP35 11066 genome.wustl.edu 37 12 123956417 123956417 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 123956417 123956417 G A SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.806 - - - no_errors SNRNP35 HGNC ENSG00000184209 32 13 28.89 32 0 0.00 SNRNP35 11066 genome.wustl.edu 37 12 123956915 123956915 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 123956915 123956915 G T SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.866 - - - no_errors SNRNP35 HGNC ENSG00000184209 36 5 12.20 29 0 0.00 SNRNP35 11066 genome.wustl.edu 37 12 123956984 123956984 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 123956984 123956984 C G SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SNRNP35 HGNC ENSG00000184209 9 6 37.50 12 0 0.00 SNRNP35 11066 genome.wustl.edu 37 12 123956991 123956991 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 123956991 123956991 G A SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNRNP35 HGNC ENSG00000184209 44 20 31.25 51 0 0.00 SNRNP40 9410 genome.wustl.edu 37 1 31754370 31754370 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 31754370 31754370 C T SNP SNRNP40 ENST00000489853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNRNP40 HGNC ENSG00000060688 34 8 19.05 23 0 0.00 SNRNP48 154007 genome.wustl.edu 37 6 7590611 7590611 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 7590611 7590611 G C SNP SNRNP48 ENST00000342415 human ensembl 70_37 +1 known missense c.121 p.D41H 0.993 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 20 5 20.00 42 0 0.00 SNRNP48 154007 genome.wustl.edu 37 6 7602865 7602865 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 7602865 7602865 G A SNP SNRNP48 ENST00000342415 human ensembl 70_37 +1 known missense c.605 p.R202Q 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 7 10 58.82 15 0 0.00 SNRNP48 154007 genome.wustl.edu 37 6 7605687 7605688 + Frame_Shift_Ins INS - - G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 7605687 7605688 - G INS SNRNP48 ENST00000342415 human ensembl 70_37 +1 known frame_shift_ins c.774_775 p.E258fs 0.984:1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 15 2 11.76 58 0 0.00 SNRNP70 6625 genome.wustl.edu 37 19 49601710 49601710 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49601710 49601710 C G SNP SNRNP70 ENST00000598441 human ensembl 70_37 +1 known missense c.292 p.Q98E 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 242 57 19.06 324 0 0.00 SNRNP70 6625 genome.wustl.edu 37 19 49610936 49610936 + Nonsense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 49610936 49610936 C G SNP SNRNP70 ENST00000598441 human ensembl 70_37 +1 known nonsense c.632 p.S211* 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 70 27 27.84 106 0 0.00 SNRPA1 6627 genome.wustl.edu 37 15 101832243 101832243 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 101832243 101832243 C T SNP SNRPA1 ENST00000254193 human ensembl 70_37 -1 known missense c.233 p.R78H 0.999 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 36 11 23.40 61 0 0.00 SNRPA1 6627 genome.wustl.edu 37 15 101835311 101835311 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 101835311 101835311 C T SNP SNRPA1 ENST00000254193 human ensembl 70_37 -1 known missense c.73 p.D25N 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 33 16 32.65 20 0 0.00 SNRPB 6628 genome.wustl.edu 37 20 2443795 2443795 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 2443795 2443795 G T SNP SNRPB ENST00000438552 human ensembl 70_37 -1 known missense c.499 p.Q167K 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 9 3 25.00 26 0 0.00 SNRPD1 6632 genome.wustl.edu 37 18 19192399 19192399 + Silent SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 18 19192399 19192399 C G SNP SNRPD1 ENST00000300413 human ensembl 70_37 +1 known silent c.9 p.L3 0.998 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD1 HGNC ENSG00000167088 298 99 24.81 430 0 0.00 SNRPD1 6632 genome.wustl.edu 37 18 19203860 19203860 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 19203860 19203860 G C SNP SNRPD1 ENST00000579618 human ensembl 70_37 +1 putative missense c.116 p.W39S 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom - no_errors SNRPD1 HGNC ENSG00000167088 35 15 30.00 25 0 0.00 SNRPD2 6633 genome.wustl.edu 37 19 46190854 46190854 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 46190854 46190854 G A SNP SNRPD2 ENST00000342669 human ensembl 70_37 -1 known missense c.314 p.S105L 0.998 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 53 30 36.14 96 0 0.00 SNRPD2 6633 genome.wustl.edu 37 19 46191815 46191815 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46191815 46191815 G C SNP SNRPD2 ENST00000342669 human ensembl 70_37 -1 known silent c.12 p.L4 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 32 10 23.81 43 0 0.00 SNRPD3 6634 genome.wustl.edu 37 22 24964112 24964112 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 24964112 24964112 G T SNP SNRPD3 ENST00000215829 human ensembl 70_37 +1 known missense c.287 p.G96V 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 30 32 51.61 56 0 0.00 SNTA1 6640 genome.wustl.edu 37 20 31996362 31996362 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 31996362 31996362 A T SNP SNTA1 ENST00000217381 human ensembl 70_37 -1 known missense c.1469 p.I490N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 24 28 53.85 31 0 0.00 SNTA1 6640 genome.wustl.edu 37 20 31996362 31996362 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 31996362 31996362 A T SNP SNTA1 ENST00000217381 human ensembl 70_37 -1 known missense c.1469 p.I490N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 34 21 37.50 52 0 0.00 SNTA1 6640 genome.wustl.edu 37 20 32000556 32000556 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 20 32000556 32000556 T C SNP SNTA1 ENST00000217381 human ensembl 70_37 -1 known missense c.734 p.D245G 0.962 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 32 17 34.69 21 0 0.00 SNTB1 6641 genome.wustl.edu 37 8 121583520 121583520 + RNA SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 8 121583520 121583520 G T SNP SNTB1 ENST00000519177 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNTB1 HGNC ENSG00000172164 55 27 32.93 57 0 0.00 SNTB1 6641 genome.wustl.edu 37 8 121583573 121583573 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 121583573 121583573 C G SNP SNTB1 ENST00000519177 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors SNTB1 HGNC ENSG00000172164 55 20 26.67 65 0 0.00 SNTB1 6641 genome.wustl.edu 37 8 121644796 121644796 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 121644796 121644796 G C SNP SNTB1 ENST00000395601 human ensembl 70_37 -1 known missense c.884 p.S295C 0.999 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 110 23 17.29 60 0 0.00 SNTB2 6645 genome.wustl.edu 37 16 69294158 69294158 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 69294158 69294158 G A SNP SNTB2 ENST00000336278 human ensembl 70_37 +1 known missense c.1000 p.E334K 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 39 13 25.00 44 0 0.00 SNTB2 6645 genome.wustl.edu 37 16 69318079 69318079 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 69318079 69318079 C A SNP SNTB2 ENST00000336278 human ensembl 70_37 +1 known nonsense c.1277 p.S426* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 33 29 46.77 75 0 0.00 SNTB2 6645 genome.wustl.edu 37 16 69318092 69318092 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 69318092 69318092 G A SNP SNTB2 ENST00000336278 human ensembl 70_37 +1 known silent c.1290 p.R430 0.993 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 85 23 21.30 72 0 0.00 SNTG1 54212 genome.wustl.edu 37 8 51415431 51415431 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 8 51415431 51415431 G C SNP SNTG1 ENST00000518864 human ensembl 70_37 +1 known missense c.457 p.D153H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 14 5 26.32 19 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1251136 1251136 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 1251136 1251136 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.926 p.G309E 0.949 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 48 24 33.33 54 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1271197 1271197 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 1271197 1271197 G C SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1138 p.D380H 0.029 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 20 3 13.04 34 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1271203 1271203 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 1271203 1271203 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1144 p.E382K 0.926 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 17 5 22.73 13 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1271203 1271203 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 1271203 1271203 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1144 p.E382K 0.926 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 44 14 24.14 30 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1271336 1271336 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 1271336 1271336 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1277 p.R426K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 23 13 36.11 30 0 0.00 SNTG2 54221 genome.wustl.edu 37 2 1357626 1357626 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 1357626 1357626 G C SNP SNTG2 ENST00000472606 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SNTG2 HGNC ENSG00000172554 28 24 46.15 32 0 0.00 SNUPN 10073 genome.wustl.edu 37 15 75897509 75897509 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 75897509 75897509 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known missense c.786 p.E262D 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 32 17 34.69 56 0 0.00 SNUPN 10073 genome.wustl.edu 37 15 75897569 75897569 + Splice_Site SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 75897569 75897569 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known splice_site c.727-1 e7-1 1.000 - - - no_errors SNUPN HGNC ENSG00000169371 29 10 25.64 36 0 0.00 SNUPN 10073 genome.wustl.edu 37 15 75897569 75897569 + Splice_Site SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 75897569 75897569 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known splice_site c.727-1 e7-1 1.000 - - - no_errors SNUPN HGNC ENSG00000169371 40 5 11.11 49 0 0.00 SNURF 8926 genome.wustl.edu 37 15 25213164 25213164 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 15 25213164 25213164 G A SNP SNURF ENST00000338094 human ensembl 70_37 +1 known missense c.196 p.E66K 0.999 pfam_SNURF pfam_SNURF - no_errors SNURF HGNC ENSG00000214265 58 7 10.45 105 0 0.00 SNW1 22938 genome.wustl.edu 37 14 78189584 78189584 + Missense_Mutation SNP T T A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 78189584 78189584 T A SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known missense c.1070 p.H357L 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 31 14 31.11 35 0 0.00 SNW1 22938 genome.wustl.edu 37 14 78205174 78205174 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 14 78205174 78205174 G T SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known silent c.480 p.A160 0.855 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 36 4 10.00 37 0 0.00 SNW1 22938 genome.wustl.edu 37 14 78217764 78217764 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 78217764 78217764 C G SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known missense c.228 p.M76I 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 17 16 48.48 35 0 0.00 SNX1 6642 genome.wustl.edu 37 15 64388288 64388288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 64388288 64388288 G C SNP SNX1 ENST00000559844 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 25 19 43.18 52 0 0.00 SNX1 6642 genome.wustl.edu 37 15 64404874 64404874 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 64404874 64404874 C G SNP SNX1 ENST00000559844 human ensembl 70_37 +1 known missense c.262 p.L88V 1.000 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 21 4 16.00 43 0 0.00 SNX1 6642 genome.wustl.edu 37 15 64426947 64426947 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 15 64426947 64426947 C T SNP SNX1 ENST00000559844 human ensembl 70_37 +1 known missense c.1306 p.R436W 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 21 31 58.49 70 0 0.00 SNX11 29916 genome.wustl.edu 37 17 46190131 46190131 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 46190131 46190131 T C SNP SNX11 ENST00000583320 human ensembl 70_37 +1 known missense c.148 p.C50R 0.111 NULL NULL - no_errors SNX11 HGNC ENSG00000002919 11 4 26.67 14 0 0.00 SNX11 29916 genome.wustl.edu 37 17 46196369 46196369 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46196369 46196369 C G SNP SNX11 ENST00000359238 human ensembl 70_37 +1 known missense c.360 p.S120R 0.999 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 139 49 26.06 238 0 0.00 SNX11 29916 genome.wustl.edu 37 17 46198670 46198670 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 46198670 46198670 G C SNP SNX11 ENST00000359238 human ensembl 70_37 +1 known missense c.613 p.E205Q 0.002 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 27 21 43.75 48 0 0.00 SNX12 29934 genome.wustl.edu 37 X 70280810 70280810 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70280810 70280810 G A SNP SNX12 ENST00000465030 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNX12 HGNC ENSG00000147164 43 11 20.37 58 0 0.00 SNX13 23161 genome.wustl.edu 37 7 17836561 17836561 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 17836561 17836561 C T SNP SNX13 ENST00000428135 human ensembl 70_37 -1 novel missense c.2515 p.D839N 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 17 12 41.38 35 0 0.00 SNX13 23161 genome.wustl.edu 37 7 17874425 17874425 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 17874425 17874425 C T SNP SNX13 ENST00000428135 human ensembl 70_37 -1 novel missense c.1423 p.E475K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 109 32 22.70 62 0 0.00 SNX13 23161 genome.wustl.edu 37 7 17979955 17979955 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 17979955 17979955 C T SNP SNX13 ENST00000471744 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNX13 HGNC ENSG00000071189 16 6 27.27 33 0 0.00 SNX14 57231 genome.wustl.edu 37 6 86235932 86235932 + Silent SNP C C A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 6 86235932 86235932 C A SNP SNX14 ENST00000314673 human ensembl 70_37 -1 known silent c.2019 p.L673 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX14 HGNC ENSG00000135317 33 4 10.81 28 0 0.00 SNX14 57231 genome.wustl.edu 37 6 86267721 86267721 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 86267721 86267721 C A SNP SNX14 ENST00000314673 human ensembl 70_37 -1 known nonsense c.607 p.E203* 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX14 HGNC ENSG00000135317 14 9 39.13 51 0 0.00 SNX14 57231 genome.wustl.edu 37 6 86270988 86270988 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 6 86270988 86270988 C T SNP SNX14 ENST00000508980 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNX14 HGNC ENSG00000135317 32 19 37.25 29 0 0.00 SNX15 29907 genome.wustl.edu 37 11 64807250 64807250 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 64807250 64807250 C G SNP SNX15 ENST00000377244 human ensembl 70_37 +1 known missense c.1015 p.Q339E 0.021 smart_MIT pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 28 16 36.36 34 0 0.00 SNX17 9784 genome.wustl.edu 37 2 27597275 27597275 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27597275 27597275 G C SNP SNX17 ENST00000233575 human ensembl 70_37 +1 known missense c.586 p.E196Q 1.000 pfscan_Ras-assoc pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 35 4 10.26 28 0 0.00 SNX17 9784 genome.wustl.edu 37 2 27599219 27599219 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 27599219 27599219 G A SNP SNX17 ENST00000233575 human ensembl 70_37 +1 known missense c.1222 p.D408N 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 92 12 11.43 106 0 0.00 SNX18 112574 genome.wustl.edu 37 5 53815271 53815271 + Nonsense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 53815271 53815271 G T SNP SNX18 ENST00000326277 human ensembl 70_37 +1 known nonsense c.1489 p.G497* 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 29 4 12.12 22 0 0.00 SNX18 112574 genome.wustl.edu 37 5 53815615 53815615 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 53815615 53815615 G T SNP SNX18 ENST00000326277 human ensembl 70_37 +1 known missense c.1833 p.E611D 0.002 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 46 11 18.97 27 0 0.00 SNX19 399979 genome.wustl.edu 37 11 130749566 130749566 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 130749566 130749566 C T SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known silent c.2799 p.L933 0.724 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 8 9 52.94 72 0 0.00 SNX19 399979 genome.wustl.edu 37 11 130775929 130775929 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 130775929 130775929 C T SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.001 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 20 29 59.18 60 0 0.00 SNX19 399979 genome.wustl.edu 37 11 130784826 130784826 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 130784826 130784826 C G SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known missense c.1009 p.E337Q 0.990 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 37 11 22.92 35 0 0.00 SNX20 124460 genome.wustl.edu 37 16 50707340 50707340 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 50707340 50707340 T A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known missense c.928 p.T310S 0.047 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 54 15 21.74 70 0 0.00 SNX20 124460 genome.wustl.edu 37 16 50707416 50707416 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 50707416 50707416 G A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known silent c.852 p.F284 0.979 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 37 7 15.91 35 0 0.00 SNX20 124460 genome.wustl.edu 37 16 50707548 50707548 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 50707548 50707548 G A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known silent c.720 p.L240 0.864 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 32 8 20.00 32 0 0.00 SNX21 90203 genome.wustl.edu 37 20 44470020 44470020 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44470020 44470020 G A SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 49 13 20.97 55 0 0.00 SNX21 90203 genome.wustl.edu 37 20 44470405 44470405 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44470405 44470405 C T SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 18 16 47.06 53 0 0.00 SNX21 90203 genome.wustl.edu 37 20 44470616 44470616 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44470616 44470616 G A SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 34 5 12.82 44 0 0.00 SNX25 83891 genome.wustl.edu 37 4 186168499 186168499 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186168499 186168499 A C SNP SNX25 ENST00000506896 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors SNX25 HGNC ENSG00000109762 11 9 45.00 32 0 0.00 SNX25 83891 genome.wustl.edu 37 4 186180183 186180183 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 186180183 186180183 C T SNP SNX25 ENST00000264694 human ensembl 70_37 +1 known silent c.204 p.L68 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 73 19 20.65 121 0 0.00 SNX25 83891 genome.wustl.edu 37 4 186244913 186244913 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 186244913 186244913 G C SNP SNX25 ENST00000264694 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.957 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 50 15 23.08 42 0 0.00 SNX25 83891 genome.wustl.edu 37 4 186284652 186284652 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 186284652 186284652 G A SNP SNX25 ENST00000512853 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX25 HGNC ENSG00000109762 31 20 39.22 47 0 0.00 SNX27 81609 genome.wustl.edu 37 1 151611373 151611373 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 151611373 151611373 G C SNP SNX27 ENST00000368841 human ensembl 70_37 +1 known missense c.190 p.E64Q 1.000 NULL NULL - no_errors SNX27 HGNC ENSG00000143376 25 35 58.33 71 0 0.00 SNX27 81609 genome.wustl.edu 37 1 151611518 151611518 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 151611518 151611518 G A SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.466 p.D156N 1.000 superfamily_Phox,smart_Phox pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 27 55 67.07 84 0 0.00 SNX27 81609 genome.wustl.edu 37 1 151641005 151641005 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151641005 151641005 C T SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.1043 p.S348L 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 25 4 13.33 18 0 0.00 SNX27 81609 genome.wustl.edu 37 1 151664974 151664974 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 151664974 151664974 G C SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.1303 p.D435H 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 71 9 11.25 72 0 0.00 SNX27 81609 genome.wustl.edu 37 1 151665923 151665923 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151665923 151665923 C T SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known silent c.1542 p.F514 0.993 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 45 31 40.26 115 0 0.00 SNX29 92017 genome.wustl.edu 37 16 12093183 12093183 + Silent SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 16 12093183 12093183 C T SNP SNX29 ENST00000268271 human ensembl 70_37 +1 known silent c.37 p.L13 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 10 8 44.44 40 0 0.00 SNX29 92017 genome.wustl.edu 37 16 12155423 12155423 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 12155423 12155423 G A SNP SNX29 ENST00000306030 human ensembl 70_37 +1 known missense c.8 p.S3N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 15 4 21.05 13 0 0.00 SNX29 92017 genome.wustl.edu 37 16 12571627 12571627 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 12571627 12571627 G A SNP SNX29 ENST00000306030 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 36 7 16.28 56 0 0.00 SNX29P2 440352 genome.wustl.edu 37 16 29376108 29376108 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 29376108 29376108 G C SNP SNX29P2 ENST00000507381 human ensembl 70_37 +1 known missense c.450 p.K150N 0.400 NULL pfam_Run,smart_Run,pfscan_Run - no_errors SNX29P2 HGNC ENSG00000198106 22 8 26.67 49 0 0.00 SNX3 8724 genome.wustl.edu 37 6 108582039 108582039 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 108582039 108582039 G A SNP SNX3 ENST00000230085 human ensembl 70_37 -1 known silent c.87 p.L29 0.741 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX3 HGNC ENSG00000112335 75 63 45.65 103 0 0.00 SNX32 254122 genome.wustl.edu 37 11 65617642 65617642 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 65617642 65617642 C A SNP SNX32 ENST00000308342 human ensembl 70_37 +1 known missense c.274 p.P92T 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 40 15 27.27 83 0 0.00 SNX32 254122 genome.wustl.edu 37 11 65618550 65618550 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65618550 65618550 G C SNP SNX32 ENST00000308342 human ensembl 70_37 +1 known missense c.628 p.E210Q 0.947 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 46 35 43.21 68 0 0.00 SNX33 257364 genome.wustl.edu 37 15 75941967 75941967 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 75941967 75941967 G A SNP SNX33 ENST00000308527 human ensembl 70_37 +1 known missense c.524 p.R175Q 0.996 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 35 14 28.57 58 0 0.00 SNX5 27131 genome.wustl.edu 37 20 17922931 17922931 + RNA SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 17922931 17922931 T C SNP SNX5 ENST00000476648 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SNX5 HGNC ENSG00000089006 52 11 17.46 34 0 0.00 SNX5 27131 genome.wustl.edu 37 20 17930840 17930840 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 17930840 17930840 C T SNP SNX5 ENST00000377759 human ensembl 70_37 -1 known missense c.727 p.D243N 1.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC ENSG00000089006 50 15 23.08 46 0 0.00 SNX6 58533 genome.wustl.edu 37 14 35037129 35037129 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 35037129 35037129 G A SNP SNX6 ENST00000362031 human ensembl 70_37 -1 known silent c.1048 p.L350 1.000 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 75 11 12.64 42 0 0.00 SNX8 29886 genome.wustl.edu 37 7 2314765 2314765 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 7 2314765 2314765 G A SNP SNX8 ENST00000222990 human ensembl 70_37 -1 known missense c.400 p.P134S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 51 8 13.56 76 0 0.00 SNX8 29886 genome.wustl.edu 37 7 2317747 2317747 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 7 2317747 2317747 C A SNP SNX8 ENST00000222990 human ensembl 70_37 -1 known missense c.288 p.E96D 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 35 4 10.26 41 0 0.00 SNX9 51429 genome.wustl.edu 37 6 158288594 158288594 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 158288594 158288594 G C SNP SNX9 ENST00000392185 human ensembl 70_37 +1 known missense c.28 p.D10H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 41 26 38.81 96 0 0.00 SOAT2 8435 genome.wustl.edu 37 12 53509913 53509913 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53509913 53509913 G A SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known silent c.741 p.L247 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 43 24 35.82 61 0 0.00 SOAT2 8435 genome.wustl.edu 37 12 53509917 53509917 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 53509917 53509917 G A SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known missense c.745 p.E249K 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 41 8 16.33 56 0 0.00 SOAT2 8435 genome.wustl.edu 37 12 53514592 53514592 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53514592 53514592 C G SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known missense c.1062 p.I354M 0.992 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 32 25 43.10 63 0 0.00 SOBP 55084 genome.wustl.edu 37 6 107908338 107908338 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 107908338 107908338 G A SNP SOBP ENST00000317357 human ensembl 70_37 +1 known missense c.628 p.E210K 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 88 55 38.46 169 0 0.00 SOBP 55084 genome.wustl.edu 37 6 107955149 107955149 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 107955149 107955149 G A SNP SOBP ENST00000317357 human ensembl 70_37 +1 known silent c.1101 p.Q367 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 27 14 34.15 41 0 0.00 SOBP 55084 genome.wustl.edu 37 6 107956596 107956596 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 107956596 107956596 C T SNP SOBP ENST00000317357 human ensembl 70_37 +1 known missense c.2548 p.L850F 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 20 4 16.67 36 0 0.00 SOCS2 8835 genome.wustl.edu 37 12 93968515 93968516 + Frame_Shift_Ins INS - - T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 93968515 93968516 - T INS SOCS2 ENST00000340600 human ensembl 70_37 +1 known frame_shift_ins c.157_158 p.M53fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 30 6 16.67 72 0 0.00 SOCS2 8835 genome.wustl.edu 37 12 93968591 93968591 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 93968591 93968591 C T SNP SOCS2 ENST00000340600 human ensembl 70_37 +1 known missense c.233 p.S78L 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 3 21 87.50 29 0 0.00 SOCS2 8835 genome.wustl.edu 37 12 93968612 93968612 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 93968612 93968612 C G SNP SOCS2 ENST00000340600 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 78 12 13.33 93 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76354722 76354722 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 76354722 76354722 G A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.455 p.S152F 0.020 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 14 12 46.15 19 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76354826 76354826 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 76354826 76354826 G A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known silent c.351 p.F117 0.988 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 38 23 37.70 47 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76354877 76354878 + Frame_Shift_Ins INS - - C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 76354877 76354878 - C INS SOCS3 ENST00000330871 human ensembl 70_37 -1 known frame_shift_ins c.300_299 p.S101fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 31 19 38.00 78 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76354963 76354963 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76354963 76354963 C A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.214 p.D72Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 61 18 22.78 67 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76354970 76354970 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76354970 76354970 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known silent c.207 p.L69 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 54 20 27.03 67 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76355014 76355014 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76355014 76355014 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.163 p.E55K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 32 20 38.46 37 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76355089 76355089 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 76355089 76355089 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.88 p.E30K 1.000 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 40 42 51.22 44 0 0.00 SOCS3 9021 genome.wustl.edu 37 17 76355093 76355093 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 76355093 76355093 C G SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.84 p.K28N 1.000 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 43 44 50.57 43 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55509864 55509864 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 55509864 55509864 G C SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.105 p.K35N 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 85 36 29.75 134 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55509864 55509864 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509864 55509864 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known silent c.105 p.K35 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 80 16 16.67 63 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55509907 55509907 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509907 55509907 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.148 p.E50K 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 64 14 17.72 63 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55509925 55509925 + Nonsense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55509925 55509925 G T SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.033 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 65 12 15.58 57 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55510091 55510091 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 55510091 55510091 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.332 p.R111Q 0.994 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 18 9 33.33 23 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55510564 55510564 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 55510564 55510564 G C SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.805 p.D269H 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 17 17 50.00 16 0 0.00 SOCS4 122809 genome.wustl.edu 37 14 55511068 55511068 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 55511068 55511068 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.1309 p.E437K 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 16 3 15.79 12 0 0.00 SOCS5 9655 genome.wustl.edu 37 2 46985885 46985885 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 46985885 46985885 G A SNP SOCS5 ENST00000306503 human ensembl 70_37 +1 known silent c.216 p.S72 0.622 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 16 12 42.86 27 0 0.00 SOCS5 9655 genome.wustl.edu 37 2 46986242 46986242 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 46986242 46986242 G C SNP SOCS5 ENST00000306503 human ensembl 70_37 +1 known missense c.573 p.M191I 1.000 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 34 4 10.53 36 0 0.00 SOCS6 9306 genome.wustl.edu 37 18 67992052 67992052 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 67992052 67992052 G T SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known missense c.148 p.D50Y 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 36 4 10.00 45 0 0.00 SOCS6 9306 genome.wustl.edu 37 18 67992741 67992741 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 67992741 67992741 C T SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known silent c.837 p.I279 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 122 33 21.15 156 0 0.00 SOCS6 9306 genome.wustl.edu 37 18 67993286 67993286 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 67993286 67993286 C A SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known nonsense c.1382 p.S461* 0.998 smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 81 28 25.69 150 0 0.00 SOCS6 9306 genome.wustl.edu 37 18 67993397 67993397 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 67993397 67993397 G A SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known missense c.1493 p.R498H 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 45 29 39.19 33 0 0.00 SOCS7 30837 genome.wustl.edu 37 17 36521234 36521234 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36521234 36521234 G A SNP SOCS7 ENST00000577233 human ensembl 70_37 +1 known silent c.1002 p.P334 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 15 9 37.50 32 0 0.00 SOCS7 30837 genome.wustl.edu 37 17 36521268 36521268 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36521268 36521268 C T SNP SOCS7 ENST00000577233 human ensembl 70_37 +1 known missense c.1036 p.P346S 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 13 10 43.48 25 0 0.00 SOD1 6647 genome.wustl.edu 37 21 33032016 33032016 + RNA SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 33032016 33032016 C G SNP SOD1 ENST00000476106 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SOD1 HGNC ENSG00000142168 24 6 20.00 31 0 0.00 SOGA1 140710 genome.wustl.edu 37 20 35415003 35415003 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 35415003 35415003 G A SNP SOGA1 ENST00000357779 human ensembl 70_37 -1 known missense c.4157 p.S1386F 1.000 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 36 8 18.18 32 0 0.00 SOGA2 23255 genome.wustl.edu 37 18 8784515 8784515 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 18 8784515 8784515 G C SNP SOGA2 ENST00000359865 human ensembl 70_37 +1 known missense c.1405 p.E469Q 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 172 33 16.10 242 0 0.00 SOGA2 23255 genome.wustl.edu 37 18 8821479 8821479 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 18 8821479 8821479 C T SNP SOGA2 ENST00000359865 human ensembl 70_37 +1 known silent c.3171 p.H1057 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 4 4 50.00 14 0 0.00 SOGA2 23255 genome.wustl.edu 37 18 8824835 8824835 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 8824835 8824835 C A SNP SOGA2 ENST00000359865 human ensembl 70_37 +1 known silent c.3327 p.I1109 0.031 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 17 5 22.73 28 0 0.00 SOGA2 23255 genome.wustl.edu 37 18 8831528 8831528 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 8831528 8831528 G A SNP SOGA2 ENST00000581670 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SOGA2 HGNC ENSG00000168502 38 5 11.63 74 0 0.00 SOGA3 387104 genome.wustl.edu 37 6 127797184 127797184 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 127797184 127797184 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1987 p.V663M 1.000 pfam_DUF3166 pfam_DUF3166 - no_errors SOGA3 HGNC ENSG00000214338 82 13 13.68 60 0 0.00 SOGA3 387104 genome.wustl.edu 37 6 127797568 127797568 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 127797568 127797568 C A SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known nonsense c.1603 p.E535* 1.000 pfam_DUF3166 pfam_DUF3166 - no_errors SOGA3 HGNC ENSG00000214338 18 5 21.74 46 0 0.00 SOGA3 387104 genome.wustl.edu 37 6 127834155 127834155 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 127834155 127834155 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 NULL pfam_DUF3166 - no_errors SOGA3 HGNC ENSG00000214338 42 26 37.68 75 0 0.00 SOGA3 387104 genome.wustl.edu 37 6 127836178 127836178 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 127836178 127836178 C G SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1116 p.E372D 1.000 NULL pfam_DUF3166 - no_errors SOGA3 HGNC ENSG00000214338 45 17 27.42 35 0 0.00 SOGA3 387104 genome.wustl.edu 37 6 127837445 127837445 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 127837445 127837445 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known silent c.315 p.A105 0.089 NULL pfam_DUF3166 - no_errors SOGA3 HGNC ENSG00000214338 27 15 35.71 24 0 0.00 SOHLH1 402381 genome.wustl.edu 37 9 138590275 138590275 + Missense_Mutation SNP T T A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 138590275 138590275 T A SNP SOHLH1 ENST00000425225 human ensembl 70_37 -1 known missense c.245 p.Q82L 0.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 39 14 26.42 64 0 0.00 SOHLH2 54937 genome.wustl.edu 37 13 36747844 36747844 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 36747844 36747844 C T SNP SOHLH2 ENST00000554962 human ensembl 70_37 -1 known missense c.1216 p.D406N 0.587 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH2 HGNC ENSG00000120669 41 13 24.07 62 0 0.00 SOHLH2 54937 genome.wustl.edu 37 13 36776105 36776105 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 36776105 36776105 C T SNP SOHLH2 ENST00000554962 human ensembl 70_37 -1 known silent c.405 p.A135 0.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH2 HGNC ENSG00000120669 30 24 44.44 67 0 0.00 CAPN15 6650 genome.wustl.edu 37 16 596889 596889 + Silent SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 596889 596889 G T SNP SOLH ENST00000219611 human ensembl 70_37 +1 known silent c.51 p.P17 0.037 smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC ENSG00000103326 37 6 13.95 47 0 0.00 CAPN15 6650 genome.wustl.edu 37 16 602965 602965 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 602965 602965 G A SNP SOLH ENST00000219611 human ensembl 70_37 +1 known missense c.3007 p.D1003N 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC ENSG00000103326 29 4 12.12 56 0 0.00 SON 6651 genome.wustl.edu 37 21 34922769 34922769 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 34922769 34922769 C G SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.1232 p.T411S 0.862 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 51 30 37.04 69 0 0.00 SON 6651 genome.wustl.edu 37 21 34924700 34924700 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 21 34924700 34924700 G A SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.3163 p.E1055K 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 64 11 14.67 106 0 0.00 SON 6651 genome.wustl.edu 37 21 34925697 34925697 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 34925697 34925697 C T SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.4160 p.S1387L 0.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 82 48 36.92 128 0 0.00 SON 6651 genome.wustl.edu 37 21 34926794 34926794 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 21 34926794 34926794 G C SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.5257 p.E1753Q 0.900 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 23 18 43.90 34 0 0.00 SON 6651 genome.wustl.edu 37 21 34942133 34942133 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 34942133 34942133 C G SNP SON ENST00000467616 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SON HGNC ENSG00000159140 11 11 50.00 23 0 0.00 SON 6651 genome.wustl.edu 37 21 34948919 34948919 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 21 34948919 34948919 C G SNP SON ENST00000470533 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SON HGNC ENSG00000159140 65 10 13.33 69 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97096727 97096727 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 97096727 97096727 G A SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known silent c.3190 p.L1064 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 22 18 45.00 27 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97131130 97131130 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 97131130 97131130 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.1858 p.E620Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 15 11 40.74 37 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97135792 97135792 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 97135792 97135792 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.1675 p.E559Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 65 18 21.69 108 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97154431 97154431 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97154431 97154431 C T SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known splice_site c.1298-1 e13-1 1.000 - - - no_errors SORBS1 HGNC ENSG00000095637 31 9 22.50 21 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97158831 97158831 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 97158831 97158831 C T SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known silent c.1101 p.V367 0.001 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 77 25 24.51 81 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97174291 97174291 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 97174291 97174291 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.770 p.R257T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 58 20 25.64 89 0 0.00 SORBS1 10580 genome.wustl.edu 37 10 97192313 97192314 + Frame_Shift_Ins INS - - GATTTTT TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 10 97192313 97192314 - GATTTTT INS SORBS1 ENST00000361941 human ensembl 70_37 -1 known frame_shift_ins c.193_192 p.C64fs 1.000:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 32 11 25.58 52 0 0.00 SORBS2 8470 genome.wustl.edu 37 4 186578742 186578742 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 186578742 186578742 C T SNP SORBS2 ENST00000284776 human ensembl 70_37 -1 known missense c.103 p.D35N 0.993 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 19 7 26.92 34 0 0.00 SORBS3 10174 genome.wustl.edu 37 8 22414398 22414398 + Missense_Mutation SNP G G T TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 8 22414398 22414398 G T SNP SORBS3 ENST00000240123 human ensembl 70_37 +1 known missense c.391 p.G131C 1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 11 4 26.67 14 0 0.00 SORBS3 10174 genome.wustl.edu 37 8 22419006 22419006 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 22419006 22419006 G C SNP SORBS3 ENST00000523402 human ensembl 70_37 +1 putative missense c.637 p.E213Q 0.000 NULL pfam_Sorb,smart_Sorb,pfscan_Sorb - no_errors SORBS3 HGNC ENSG00000120896 17 7 29.17 49 0 0.00 SORBS3 10174 genome.wustl.edu 37 8 22419414 22419414 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 22419414 22419414 A G SNP SORBS3 ENST00000240123 human ensembl 70_37 +1 known missense c.554 p.H185R 0.000 pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 13 17 56.67 52 0 0.00 SORCS1 114815 genome.wustl.edu 37 10 108337108 108337108 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 108337108 108337108 G T SNP SORCS1 ENST00000473866 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SORCS1 HGNC ENSG00000108018 6 12 66.67 24 0 0.00 SORCS1 114815 genome.wustl.edu 37 10 108427547 108427547 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 108427547 108427547 C G SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 22 8 26.67 42 0 0.00 SORCS1 114815 genome.wustl.edu 37 10 108434815 108434815 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 108434815 108434815 G T SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known silent c.1932 p.L644 0.134 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 33 4 10.81 65 0 0.00 SORCS1 114815 genome.wustl.edu 37 10 108466392 108466392 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 108466392 108466392 G T SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.1144 p.L382M 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 33 4 10.81 49 0 0.00 SORCS1 114815 genome.wustl.edu 37 10 108716280 108716280 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 108716280 108716280 G A SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.617 p.S206L 0.997 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 68 8 10.53 106 0 0.00 SORCS2 57537 genome.wustl.edu 37 4 7668894 7668894 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 7668894 7668894 G A SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known missense c.1115 p.R372Q 0.981 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 21 13 38.24 49 0 0.00 SORCS2 57537 genome.wustl.edu 37 4 7705979 7705979 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7705979 7705979 G C SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known silent c.1836 p.L612 0.997 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 35 24 40.68 49 0 0.00 SORCS2 57537 genome.wustl.edu 37 4 7716035 7716035 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 7716035 7716035 G T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known missense c.2058 p.K686N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 21 3 12.50 29 0 0.00 SORCS2 57537 genome.wustl.edu 37 4 7725534 7725534 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 7725534 7725534 C T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known silent c.2535 p.P845 0.071 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 99 61 38.12 176 0 0.00 SORCS3 22986 genome.wustl.edu 37 10 106927067 106927067 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 106927067 106927067 G A SNP SORCS3 ENST00000369701 human ensembl 70_37 +1 known missense c.1861 p.V621M 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 41 15 26.79 43 0 0.00 SORCS3 22986 genome.wustl.edu 37 10 106974212 106974212 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 106974212 106974212 T C SNP SORCS3 ENST00000369701 human ensembl 70_37 +1 known silent c.2388 p.I796 0.988 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 22 13 37.14 50 0 0.00 SORCS3 22986 genome.wustl.edu 37 10 106976806 106976806 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 10 106976806 106976806 G A SNP SORCS3 ENST00000369701 human ensembl 70_37 +1 known missense c.2660 p.G887E 1.000 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 45 24 34.78 87 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121358831 121358831 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121358831 121358831 G A SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.619 p.A207T 0.972 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 18 10 35.71 25 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121367720 121367720 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 121367720 121367720 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.901 p.Q301E 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 64 22 25.58 86 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121384885 121384885 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 121384885 121384885 G A SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.1066 p.E356K 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 14 12 46.15 36 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121391423 121391423 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 121391423 121391423 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known silent c.1269 p.V423 0.653 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 25 4 13.79 33 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121425928 121425928 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 121425928 121425928 G T SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.2472 p.E824D 0.996 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 54 6 10.00 86 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121466404 121466404 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121466404 121466404 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.4442 p.P1481R 0.635 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 40 21 34.43 66 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121483498 121483498 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121483498 121483498 G C SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.5376 p.E1792D 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 62 13 17.33 38 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121491799 121491799 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 121491799 121491799 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known silent c.5916 p.L1972 0.021 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 54 26 32.50 97 0 0.00 SORL1 6653 genome.wustl.edu 37 11 121500219 121500219 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 121500219 121500219 G C SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.6592 p.D2198H 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 18 4 18.18 25 0 0.00 SORT1 6272 genome.wustl.edu 37 1 109869778 109869778 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 109869778 109869778 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known silent c.1479 p.S493 0.851 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 23 8 25.81 39 0 0.00 SORT1 6272 genome.wustl.edu 37 1 109870156 109870156 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 109870156 109870156 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known missense c.1439 p.S480L 0.943 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 21 23 51.11 39 0 0.00 SORT1 6272 genome.wustl.edu 37 1 109883466 109883466 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 109883466 109883466 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known nonsense c.1144 p.R382* 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 41 13 24.07 84 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39213258 39213258 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 39213258 39213258 G C SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3709 p.P1237A 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 30 34 53.12 81 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39213450 39213450 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39213450 39213450 A G SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3517 p.S1173P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 15 11 42.31 32 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39222312 39222312 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 39222312 39222312 C G SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3298 p.D1100H 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 104 36 25.71 157 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39224138 39224138 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 39224138 39224138 C T SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known silent c.3006 p.E1002 0.994 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 17 16 48.48 50 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39240630 39240630 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 39240630 39240630 C T SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.2138 p.R713Q 0.901 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 18 8 30.77 10 0 0.00 SOS1 6654 genome.wustl.edu 37 2 39249758 39249758 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39249758 39249758 C A SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.1811 p.G604V 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 18 4 18.18 32 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50597312 50597312 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 50597312 50597312 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.3244 p.A1082P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 135 16 10.53 171 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50597312 50597312 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 50597312 50597312 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.3244 p.A1082P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 39 13 25.00 35 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50605348 50605348 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 50605348 50605348 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known silent c.2940 p.R980 0.999 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 16 11 40.74 17 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50605450 50605450 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50605450 50605450 T A SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.2838 p.L946F 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 14 12 46.15 17 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50612206 50612206 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 50612206 50612206 G C SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known silent c.2493 p.L831 0.874 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 8 4 33.33 16 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50616733 50616733 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 50616733 50616733 G A SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.2377 p.L793F 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 60 21 25.93 69 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50626635 50626635 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 50626635 50626635 C T SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 50 29 36.71 58 0 0.00 SOS2 6655 genome.wustl.edu 37 14 50666501 50666501 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50666501 50666501 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.418 p.D140H 1.000 pfam_Histone_core_D,superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 34 21 38.18 48 0 0.00 SOX11 6664 genome.wustl.edu 37 2 5832886 5832886 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 5832886 5832886 G C SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.33 p.E11D 1.000 pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC ENSG00000176887 26 4 13.33 32 0 0.00 SOX11 6664 genome.wustl.edu 37 2 5833062 5833062 + Missense_Mutation SNP A A C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 5833062 5833062 A C SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.209 p.Q70P 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC ENSG00000176887 35 8 18.60 48 0 0.00 SOX11 6664 genome.wustl.edu 37 2 5833067 5833067 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 5833067 5833067 C G SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.214 p.P72A 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC ENSG00000176887 34 30 46.15 47 0 0.00 SOX11 6664 genome.wustl.edu 37 2 5833654 5833654 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 5833654 5833654 G A SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known silent c.801 p.L267 1.000 pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC ENSG00000176887 4 3 42.86 16 0 0.00 SOX12 6666 genome.wustl.edu 37 20 306784 306784 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 306784 306784 G C SNP SOX12 ENST00000342665 human ensembl 70_37 +1 known missense c.216 p.K72N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX12 HGNC ENSG00000177732 18 18 50.00 15 0 0.00 SOX13 9580 genome.wustl.edu 37 1 204086775 204086775 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 204086775 204086775 C G SNP SOX13 ENST00000367204 human ensembl 70_37 +1 known missense c.715 p.L239V 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX13 HGNC ENSG00000143842 37 21 36.21 54 0 0.00 SOX15 6665 genome.wustl.edu 37 17 7491864 7491864 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 7491864 7491864 G T SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known silent c.534 p.G178 0.994 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC ENSG00000129194 33 4 10.81 35 0 0.00 SOX15 6665 genome.wustl.edu 37 17 7492582 7492582 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7492582 7492582 C G SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known missense c.413 p.R138T 0.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC ENSG00000129194 33 20 37.74 60 0 0.00 SOX15 6665 genome.wustl.edu 37 17 7492582 7492582 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 7492582 7492582 C T SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known missense c.413 p.R138K 0.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC ENSG00000129194 33 9 21.43 43 0 0.00 SOX17 64321 genome.wustl.edu 37 8 55370985 55370985 + Missense_Mutation SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 8 55370985 55370985 C G SNP SOX17 ENST00000297316 human ensembl 70_37 +1 known missense c.287 p.A96G 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX17 HGNC ENSG00000164736 5 8 61.54 16 0 0.00 SOX17 64321 genome.wustl.edu 37 8 55371672 55371673 + In_Frame_Ins INS - - AGA TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 55371672 55371673 - AGA INS SOX17 ENST00000297316 human ensembl 70_37 +1 known in_frame_ins c.362_363 p.123in_frame_insE 1.000:0.996 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX17 HGNC ENSG00000164736 29 17 36.96 37 0 0.00 SOX2 6657 genome.wustl.edu 37 3 181430346 181430346 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 181430346 181430346 G A SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.198 p.M66I 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 84 17 16.83 137 0 0.00 SOX2 6657 genome.wustl.edu 37 3 181430398 181430398 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 181430398 181430398 G T SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known nonsense c.250 p.E84* 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 26 15 36.59 55 0 0.00 SOX2 6657 genome.wustl.edu 37 3 181430620 181430620 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 181430620 181430620 G A SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.472 p.D158N 1.000 pfam_TF_SOX pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 17 7 29.17 19 0 0.00 SOX2 6657 genome.wustl.edu 37 3 181430944 181430944 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 181430944 181430944 C G SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.796 p.Q266E 1.000 NULL pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 21 17 44.74 32 0 0.00 SOX21 11166 genome.wustl.edu 37 13 95364171 95364171 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95364171 95364171 C G SNP SOX21 ENST00000376945 human ensembl 70_37 -1 known missense c.133 p.E45Q 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_Antifreeze_1 - no_errors SOX21 HGNC ENSG00000125285 72 24 24.74 75 0 0.00 SOX3 6658 genome.wustl.edu 37 X 139586614 139586614 + Silent SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 139586614 139586614 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known silent c.612 p.P204 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC ENSG00000134595 45 17 27.42 52 0 0.00 SOX3 6658 genome.wustl.edu 37 X 139586773 139586773 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 139586773 139586773 G A SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known silent c.453 p.R151 0.942 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC ENSG00000134595 85 51 37.50 95 0 0.00 SOX3 6658 genome.wustl.edu 37 X 139586893 139586893 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 139586893 139586893 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known silent c.333 p.A111 0.908 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC ENSG00000134595 4 11 73.33 15 0 0.00 SOX3 6658 genome.wustl.edu 37 X 139587210 139587210 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 139587210 139587210 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known missense c.16 p.E6K 0.184 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC ENSG00000134595 79 19 19.39 73 0 0.00 SOX30 11063 genome.wustl.edu 37 5 157078629 157078629 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 157078629 157078629 C G SNP SOX30 ENST00000265007 human ensembl 70_37 -1 known missense c.458 p.R153P 0.001 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC ENSG00000039600 53 18 25.35 61 0 0.00 SOX30 11063 genome.wustl.edu 37 5 157078993 157078993 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 157078993 157078993 C T SNP SOX30 ENST00000265007 human ensembl 70_37 -1 known missense c.94 p.A32T 0.090 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC ENSG00000039600 1 4 80.00 11 0 0.00 SOX5 6660 genome.wustl.edu 37 12 23689418 23689418 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 23689418 23689418 G A SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.1957 p.R653W 0.994 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 45 7 13.46 45 0 0.00 SOX5 6660 genome.wustl.edu 37 12 23999045 23999045 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 23999045 23999045 C T SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.353 p.R118Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 4 28 87.50 36 0 0.00 SOX5 6660 genome.wustl.edu 37 12 24048783 24048783 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 12 24048783 24048783 G C SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.214 p.L72V 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 14 5 26.32 18 0 0.00 SOX5 6660 genome.wustl.edu 37 12 24102511 24102511 + Nonsense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 24102511 24102511 G A SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known nonsense c.25 p.Q9* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 20 7 25.93 45 0 0.00 SOX6 55553 genome.wustl.edu 37 11 16036581 16036581 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 16036581 16036581 C G SNP SOX6 ENST00000352083 human ensembl 70_37 -1 known missense c.1639 p.E547Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC ENSG00000110693 52 12 18.75 55 0 0.00 SOX6 55553 genome.wustl.edu 37 11 16119218 16119218 + Silent SNP T T C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 16119218 16119218 T C SNP SOX6 ENST00000352083 human ensembl 70_37 -1 known silent c.915 p.V305 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC ENSG00000110693 28 12 30.00 38 0 0.00 SOX6 55553 genome.wustl.edu 37 11 16760010 16760010 + RNA SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 16760010 16760010 G A SNP SOX6 ENST00000524520 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors SOX6 HGNC ENSG00000110693 7 19 73.08 52 0 0.00 SOX7 83595 genome.wustl.edu 37 8 10583602 10583602 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 10583602 10583602 C A SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known missense c.969 p.M323I 0.997 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC ENSG00000171056 15 12 44.44 31 0 0.00 SOX7 83595 genome.wustl.edu 37 8 10689235 10689235 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 10689235 10689235 G A SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known nonsense c.241 p.Q81* 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC ENSG00000171056 19 7 26.92 60 0 0.00 SP1 6667 genome.wustl.edu 37 12 53803156 53803156 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53803156 53803156 G C SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.1855 p.D619H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 27 18 40.00 30 0 0.00 SP1 6667 genome.wustl.edu 37 12 53803312 53803312 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 53803312 53803312 G A SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.2011 p.D671N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 40 39 49.37 34 0 0.00 SP1 6667 genome.wustl.edu 37 12 53803323 53803323 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 53803323 53803323 G C SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.2022 p.Q674H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 36 24 40.00 58 0 0.00 SP100 6672 genome.wustl.edu 37 2 231309055 231309055 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 231309055 231309055 G C SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.433 p.E145Q 0.000 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 47 15 24.19 68 0 0.00 SP100 6672 genome.wustl.edu 37 2 231311611 231311611 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 231311611 231311611 G C SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.517 p.E173Q 0.654 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 14 7 33.33 30 0 0.00 SP100 6672 genome.wustl.edu 37 2 231313845 231313845 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 231313845 231313845 C T SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.566 p.S189L 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 9 20 68.97 79 0 0.00 SP100 6672 genome.wustl.edu 37 2 231326077 231326077 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231326077 231326077 T G SNP SP100 ENST00000340126 human ensembl 70_37 +1 known silent c.921 p.V307 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 9 10 52.63 21 0 0.00 SP100 6672 genome.wustl.edu 37 2 231368918 231368918 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368918 231368918 G A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1783 p.D595N 0.009 superfamily_SAND_dom-like,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 37 7 15.91 36 0 0.00 SP100 6672 genome.wustl.edu 37 2 231368920 231368920 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368920 231368920 T A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1785 p.D595E 0.000 superfamily_SAND_dom-like,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 36 7 16.28 39 0 0.00 SP100 6672 genome.wustl.edu 37 2 231368945 231368945 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368945 231368945 G A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1810 p.E604K 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 45 10 18.18 47 0 0.00 SP100 6672 genome.wustl.edu 37 2 231380185 231380185 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 231380185 231380185 A G SNP SP100 ENST00000264052 human ensembl 70_37 +1 known missense c.2470 p.K824E 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily - no_errors SP100 HGNC ENSG00000067066 45 16 26.23 68 0 0.00 SP140 11262 genome.wustl.edu 37 2 231115695 231115695 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231115695 231115695 G A SNP SP140 ENST00000392045 human ensembl 70_37 +1 known splice_site c.977-1 e10-1 0.552 - - - no_errors SP140 HGNC ENSG00000079263 86 22 20.37 74 0 0.00 SP140 11262 genome.wustl.edu 37 2 231134292 231134292 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 231134292 231134292 C T SNP SP140 ENST00000392045 human ensembl 70_37 +1 known missense c.1286 p.S429L 0.002 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 18 6 25.00 28 0 0.00 SP2 6668 genome.wustl.edu 37 17 45993695 45993695 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 45993695 45993695 C G SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.258 p.I86M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 36 4 10.00 31 0 0.00 SP2 6668 genome.wustl.edu 37 17 45993703 45993703 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 45993703 45993703 C T SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.266 p.S89F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 32 5 13.51 28 0 0.00 SP2 6668 genome.wustl.edu 37 17 45994157 45994157 + Silent SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 45994157 45994157 G T SNP SP2 ENST00000376741 human ensembl 70_37 +1 known silent c.720 p.L240 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 33 4 10.81 32 0 0.00 SP2 6668 genome.wustl.edu 37 17 45994224 45994224 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 45994224 45994224 G A SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.787 p.E263K 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 9 8 47.06 10 0 0.00 SP3 6670 genome.wustl.edu 37 2 174774691 174774691 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 174774691 174774691 G A SNP SP3 ENST00000310015 human ensembl 70_37 -1 known missense c.2324 p.S775F 1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 64 34 34.69 103 0 0.00 SP3 6670 genome.wustl.edu 37 2 174774850 174774850 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 2 174774850 174774850 G A SNP SP3 ENST00000310015 human ensembl 70_37 -1 known missense c.2165 p.A722V 0.995 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 31 5 13.89 34 0 0.00 SP4 6671 genome.wustl.edu 37 7 21469217 21469217 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 21469217 21469217 C G SNP SP4 ENST00000222584 human ensembl 70_37 +1 known missense c.434 p.S145C 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 24 12 33.33 39 0 0.00 SP6 80320 genome.wustl.edu 37 17 45924676 45924676 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 45924676 45924676 G A SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.1120 p.P374S 0.049 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 16 19 54.29 20 0 0.00 SP6 80320 genome.wustl.edu 37 17 45924697 45924697 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 45924697 45924697 C G SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.1099 p.E367Q 0.278 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 19 14 42.42 23 0 0.00 SP6 80320 genome.wustl.edu 37 17 45925575 45925575 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 45925575 45925575 G A SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 13 8 38.10 32 0 0.00 SP7 121340 genome.wustl.edu 37 12 53722969 53722969 + Nonsense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53722969 53722969 G C SNP SP7 ENST00000303846 human ensembl 70_37 -1 known nonsense c.257 p.S86* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 180 91 33.58 319 0 0.00 SP7 121340 genome.wustl.edu 37 12 53723062 53723062 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53723062 53723062 G A SNP SP7 ENST00000303846 human ensembl 70_37 -1 known missense c.164 p.S55L 0.984 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 212 113 34.77 343 1 0.29 SPA17 53340 genome.wustl.edu 37 11 124551305 124551305 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 124551305 124551305 G T SNP SPA17 ENST00000227135 human ensembl 70_37 +1 putative nonsense c.175 p.E59* 1.000 pirsf_Sp17 pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC ENSG00000064199 35 13 27.08 55 0 0.00 SPA17 53340 genome.wustl.edu 37 11 124551329 124551329 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 124551329 124551329 C T SNP SPA17 ENST00000227135 human ensembl 70_37 +1 putative missense c.199 p.R67C 1.000 pirsf_Sp17 pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC ENSG00000064199 39 7 15.22 63 0 0.00 SPA17 53340 genome.wustl.edu 37 11 124564303 124564306 + Frame_Shift_Del DEL AAAT AAAT - TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 124564303 124564306 AAAT - DEL SPA17 ENST00000227135 human ensembl 70_37 +1 putative frame_shift_del c.417_420 p.N140fs 0.000:0.000:0.000:0.000 pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC ENSG00000064199 25 5 16.67 34 0 0.00 SPA17 53340 genome.wustl.edu 37 11 124566298 124566299 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 124566298 124566299 - A INS SPA17 ENST00000524614 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors SPA17 HGNC ENSG00000064199 40 5 11.11 29 0 0.00 SPACA1 81833 genome.wustl.edu 37 6 88767424 88767424 + Silent SNP T T C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 88767424 88767424 T C SNP SPACA1 ENST00000237201 human ensembl 70_37 +1 known silent c.360 p.D120 0.985 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 71 43 37.39 79 0 0.00 SPACA3 124912 genome.wustl.edu 37 17 31322636 31322636 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 31322636 31322636 C A SNP SPACA3 ENST00000269053 human ensembl 70_37 +1 known missense c.244 p.L82I 0.042 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 25 21 45.65 50 0 0.00 SPAG1 6674 genome.wustl.edu 37 8 101174635 101174635 + Missense_Mutation SNP C C A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 101174635 101174635 C A SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known missense c.127 p.L43I 0.977 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 37 20 35.09 62 0 0.00 SPAG1 6674 genome.wustl.edu 37 8 101174635 101174635 + Missense_Mutation SNP C C A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 8 101174635 101174635 C A SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known missense c.127 p.L43I 0.977 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 42 27 39.13 33 0 0.00 SPAG1 6674 genome.wustl.edu 37 8 101178126 101178126 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 101178126 101178126 G A SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 22 17 43.59 26 0 0.00 SPAG1 6674 genome.wustl.edu 37 8 101178133 101178133 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 101178133 101178133 G C SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known missense c.232 p.D78H 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 23 16 41.03 26 0 0.00 SPAG1 6674 genome.wustl.edu 37 8 101196925 101196925 + Nonsense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 101196925 101196925 C G SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.367 smart_TPR_repeat pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 25 3 10.71 25 0 0.00 SPAG11B 10407 genome.wustl.edu 37 8 7308358 7308358 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 7308358 7308358 A G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known silent c.279 p.F93 0.994 pfam_Defensin_beta-typ pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 29 23 44.23 27 0 0.00 SPAG11B 10407 genome.wustl.edu 37 8 7308358 7308358 + Silent SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 7308358 7308358 A G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known silent c.279 p.F93 0.994 pfam_Defensin_beta-typ pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 34 13 27.66 40 0 0.00 SPAG11B 10407 genome.wustl.edu 37 8 7320333 7320333 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 7320333 7320333 C G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known missense c.110 p.G37A 0.001 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 92 15 14.02 108 0 0.00 SPAG16 79582 genome.wustl.edu 37 2 214161822 214161822 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 214161822 214161822 G T SNP SPAG16 ENST00000420497 human ensembl 70_37 +1 known missense c.260 p.R87I 0.001 NULL NULL - no_errors SPAG16 HGNC ENSG00000144451 52 20 27.78 34 0 0.00 SPAG16 79582 genome.wustl.edu 37 2 214354699 214354699 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 214354699 214354699 C T SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known missense c.955 p.P319S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 32 11 25.58 43 0 0.00 SPAG16 79582 genome.wustl.edu 37 2 214794778 214794778 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 214794778 214794778 C T SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known missense c.1309 p.R437C 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 69 13 15.85 57 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118512716 118512716 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 1 118512716 118512716 G A SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.6350 p.P2117L 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 20 7 25.93 32 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118514412 118514412 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 118514412 118514412 G A SNP SPAG17 ENST00000492438 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SPAG17 HGNC ENSG00000155761 18 11 37.93 21 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118523950 118523950 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118523950 118523950 C A SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5947 p.D1983Y 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 136 39 22.29 141 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118523962 118523962 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 118523962 118523962 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5935 p.E1979Q 0.002 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 26 5 16.13 52 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118526482 118526482 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 118526482 118526482 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5824 p.E1942Q 0.004 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 37 21 36.21 71 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118548123 118548123 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 118548123 118548123 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.4690 p.E1564Q 0.029 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 9 5 31.25 47 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118550795 118550795 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 118550795 118550795 G T SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.4459 p.Q1487K 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 47 23 32.86 80 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118609416 118609416 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 118609416 118609416 A G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.2492 p.L831S 0.029 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 33 9 21.43 49 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118629688 118629688 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 118629688 118629688 C T SNP SPAG17 ENST00000463628 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SPAG17 HGNC ENSG00000155761 18 3 14.29 25 0 0.00 SPAG17 200162 genome.wustl.edu 37 1 118644438 118644438 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 118644438 118644438 C T SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.559 p.E187K 0.899 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 103 12 10.43 98 0 0.00 SPAG4 6676 genome.wustl.edu 37 20 34205119 34205119 + Silent SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 34205119 34205119 G C SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known silent c.366 p.L122 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 3 13 81.25 18 0 0.00 SPAG4 6676 genome.wustl.edu 37 20 34205484 34205484 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 34205484 34205484 G A SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known missense c.452 p.G151E 0.816 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 12 18 60.00 16 0 0.00 SPAG4 6676 genome.wustl.edu 37 20 34205752 34205752 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 34205752 34205752 C G SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known silent c.528 p.L176 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 30 15 33.33 45 0 0.00 SPAG4 6676 genome.wustl.edu 37 20 34207117 34207117 + Missense_Mutation SNP G G T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 34207117 34207117 G T SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known missense c.794 p.G265V 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 81 92 53.18 129 0 0.00 SPAG4 6676 genome.wustl.edu 37 20 34207230 34207230 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 34207230 34207230 G C SNP SPAG4 ENST00000374273 human ensembl 70_37 +1 known missense c.907 p.E303Q 1.000 pfam_Sad1_UNC_C pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 45 74 62.18 92 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26905054 26905054 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26905054 26905054 C G SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.3484 p.D1162H 0.998 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 43 17 28.33 74 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26911397 26911397 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 26911397 26911397 C T SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.2263 p.E755K 0.998 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 32 25 43.86 38 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26913181 26913181 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26913181 26913181 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1532 p.S511C 0.346 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 38 11 22.45 36 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26913507 26913507 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 26913507 26913507 T G SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1448 p.K483T 0.990 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 36 15 29.41 59 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26919090 26919090 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26919090 26919090 G A SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.979 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 70 24 25.53 85 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26919672 26919672 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 26919672 26919672 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.590 p.S197C 0.018 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 6 7 53.85 18 0 0.00 SPAG5 10615 genome.wustl.edu 37 17 26919933 26919933 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26919933 26919933 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.329 p.S110C 0.999 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 54 24 30.77 42 0 0.00 SPAG6 9576 genome.wustl.edu 37 10 22634677 22634677 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 22634677 22634677 G A SNP SPAG6 ENST00000376603 human ensembl 70_37 +1 known silent c.51 p.R17 0.993 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 31 21 39.62 63 0 0.00 SPAG6 9576 genome.wustl.edu 37 10 22634734 22634734 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 10 22634734 22634734 G A SNP SPAG6 ENST00000376603 human ensembl 70_37 +1 known silent c.108 p.T36 0.093 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 35 29 44.62 67 0 0.00 SPAG6 9576 genome.wustl.edu 37 10 22678157 22678157 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 22678157 22678157 G C SNP SPAG6 ENST00000376603 human ensembl 70_37 +1 known silent c.1149 p.G383 0.869 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 32 27 45.76 38 0 0.00 SPAG7 9552 genome.wustl.edu 37 17 4863200 4863200 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 4863200 4863200 C G SNP SPAG7 ENST00000206020 human ensembl 70_37 -1 known missense c.429 p.Q143H 1.000 pirsf_Sperm-assoc_antigen_PAG7 pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd - no_errors SPAG7 HGNC ENSG00000091640 14 15 51.72 39 0 0.00 SPAG7 9552 genome.wustl.edu 37 17 4863765 4863765 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4863765 4863765 C G SNP SPAG7 ENST00000206020 human ensembl 70_37 -1 known missense c.231 p.E77D 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd - no_errors SPAG7 HGNC ENSG00000091640 46 47 49.47 50 0 0.00 SPAG8 26206 genome.wustl.edu 37 9 35811266 35811266 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 35811266 35811266 C T SNP SPAG8 ENST00000340291 human ensembl 70_37 -1 known nonsense c.777 p.W259* 0.007 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 37 16 30.19 31 0 0.00 SPAG8 26206 genome.wustl.edu 37 9 35812148 35812148 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 35812148 35812148 C G SNP SPAG8 ENST00000463889 human ensembl 70_37 -1 known rna NULL NULL 0.208 - - - no_errors SPAG8 HGNC ENSG00000137098 32 12 27.27 39 0 0.00 SPAG9 9043 genome.wustl.edu 37 17 49053251 49053251 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 49053251 49053251 G A SNP SPAG9 ENST00000510283 human ensembl 70_37 -1 putative missense c.3064 p.H1022Y 1.000 NULL superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 63 8 11.27 96 0 0.00 SPAG9 9043 genome.wustl.edu 37 17 49054558 49054558 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 49054558 49054558 A C SNP SPAG9 ENST00000262013 human ensembl 70_37 -1 known missense c.3434 p.F1145C 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 25 3 10.71 43 0 0.00 SPAG9 9043 genome.wustl.edu 37 17 49054561 49054561 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 49054561 49054561 G C SNP SPAG9 ENST00000262013 human ensembl 70_37 -1 known missense c.3431 p.S1144C 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 134 59 30.26 164 0 0.00 SPAM1 6677 genome.wustl.edu 37 7 123594460 123594460 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123594460 123594460 G A SNP SPAM1 ENST00000340011 human ensembl 70_37 +1 known missense c.836 p.R279H 0.991 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 19 9 32.14 42 0 0.00 SPANXC 64663 genome.wustl.edu 37 X 140335818 140335818 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 140335818 140335818 C T SNP SPANXC ENST00000358993 human ensembl 70_37 -1 known missense c.126 p.M42I 0.002 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 68 43 38.39 144 1 0.69 SPANXN1 494118 genome.wustl.edu 37 X 144337280 144337280 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 144337280 144337280 C T SNP SPANXN1 ENST00000370493 human ensembl 70_37 +1 known silent c.165 p.C55 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 96 19 16.38 131 1 0.76 SPANXN2 494119 genome.wustl.edu 37 X 142795145 142795145 + Missense_Mutation SNP C C A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 X 142795145 142795145 C A SNP SPANXN2 ENST00000370498 human ensembl 70_37 -1 known missense c.533 p.G178V 0.016 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 98 28 22.22 175 1 0.57 SPANXN2 494119 genome.wustl.edu 37 X 142795166 142795166 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 142795166 142795166 T G SNP SPANXN2 ENST00000370498 human ensembl 70_37 -1 known missense c.512 p.E171A 0.001 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 173 42 19.53 199 1 0.50 SPANXN2 494119 genome.wustl.edu 37 X 142795177 142795177 + Silent SNP T T C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 142795177 142795177 T C SNP SPANXN2 ENST00000370498 human ensembl 70_37 -1 known silent c.501 p.L167 0.004 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 179 41 18.64 206 0 0.00 SPANXN4 441525 genome.wustl.edu 37 X 142113842 142113842 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 142113842 142113842 G A SNP SPANXN4 ENST00000446864 human ensembl 70_37 +1 known silent c.42 p.K14 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN4 HGNC ENSG00000189326 33 7 17.50 39 0 0.00 SPANXN5 494197 genome.wustl.edu 37 X 52826382 52826382 + Nonsense_Mutation SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 52826382 52826382 T A SNP SPANXN5 ENST00000375511 human ensembl 70_37 -1 known nonsense c.7 p.K3* 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN5 HGNC ENSG00000204363 13 136 90.67 262 0 0.00 SPANXN5 494197 genome.wustl.edu 37 X 52826382 52826382 + Nonsense_Mutation SNP T T A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 X 52826382 52826382 T A SNP SPANXN5 ENST00000375511 human ensembl 70_37 -1 known nonsense c.7 p.K3* 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN5 HGNC ENSG00000204363 2 25 92.59 39 0 0.00 SPARC 6678 genome.wustl.edu 37 5 151049234 151049234 + Missense_Mutation SNP G G T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 5 151049234 151049234 G T SNP SPARC ENST00000231061 human ensembl 70_37 -1 known missense c.442 p.P148T 0.995 pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors SPARC HGNC ENSG00000113140 35 4 10.26 36 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88403667 88403667 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88403667 88403667 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.1577 p.R526Q 1.000 pfam_SPARC/Testican_Ca-bd-dom,pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 53 13 19.70 57 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88414908 88414908 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 88414908 88414908 G A SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known silent c.1044 p.G348 0.003 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 14 5 26.32 20 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88415045 88415045 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415045 88415045 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.907 p.E303K 0.133 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 14 18 56.25 27 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88415045 88415045 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415045 88415045 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.907 p.E303K 0.133 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 67 109 61.58 271 1 0.37 SPARCL1 8404 genome.wustl.edu 37 4 88415459 88415459 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88415459 88415459 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.493 p.E165Q 0.821 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 71 16 18.39 48 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88415720 88415720 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415720 88415720 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.974 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 12 21 63.64 35 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88415720 88415720 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 4 88415720 88415720 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.974 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 3 33 89.19 58 0 0.00 SPARCL1 8404 genome.wustl.edu 37 4 88416150 88416150 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 88416150 88416150 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.184 p.D62N 0.918 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 17 19 52.78 67 0 0.00 SPAST 6683 genome.wustl.edu 37 2 32339750 32339750 + Silent SNP T T C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 32339750 32339750 T C SNP SPAST ENST00000315285 human ensembl 70_37 +1 known silent c.726 p.T242 0.999 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 39 6 13.33 37 0 0.00 SPAST 6683 genome.wustl.edu 37 2 32340826 32340826 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 32340826 32340826 G A SNP SPAST ENST00000315285 human ensembl 70_37 +1 known missense c.926 p.R309H 0.924 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 26 16 38.10 38 0 0.00 SPATA1 100505741 genome.wustl.edu 37 1 85011415 85011415 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 85011415 85011415 G C SNP SPATA1 ENST00000431031 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 34 11 24.44 35 0 0.00 SPATA1 100505741 genome.wustl.edu 37 1 85016205 85016205 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85016205 85016205 G C SNP SPATA1 ENST00000490879 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 11 7 38.89 23 0 0.00 SPATA1 100505741 genome.wustl.edu 37 1 85018772 85018772 + RNA DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 85018772 85018772 A - DEL SPATA1 ENST00000460286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 29 4 12.12 35 0 0.00 SPATA1 100505741 genome.wustl.edu 37 1 85018772 85018772 + RNA DEL A A - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 85018772 85018772 A - DEL SPATA1 ENST00000460286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 79 11 12.22 60 0 0.00 SPATA12 353324 genome.wustl.edu 37 3 57108134 57108134 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 57108134 57108134 G A SNP SPATA12 ENST00000334325 human ensembl 70_37 +1 known missense c.412 p.E138K 0.000 NULL NULL - no_errors SPATA12 HGNC ENSG00000186451 28 55 66.27 125 1 0.79 SPATA13 221178 genome.wustl.edu 37 13 24797596 24797596 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 24797596 24797596 G C SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.529 p.E177Q 0.012 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 30 12 27.91 52 0 0.00 SPATA13 221178 genome.wustl.edu 37 13 24798688 24798688 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 24798688 24798688 G A SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.1621 p.A541T 0.008 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 24 9 27.27 51 0 0.00 SPATA13 221178 genome.wustl.edu 37 13 24868965 24868965 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 24868965 24868965 G A SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.3169 p.D1057N 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 21 6 22.22 48 0 0.00 SPATA16 83893 genome.wustl.edu 37 3 172634172 172634172 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 172634172 172634172 G C SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.1438 p.Q480E 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 77 9 10.47 76 0 0.00 SPATA16 83893 genome.wustl.edu 37 3 172766842 172766842 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 172766842 172766842 G T SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.655 p.P219T 0.996 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 28 8 22.22 25 0 0.00 SPATA16 83893 genome.wustl.edu 37 3 172835168 172835168 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 172835168 172835168 C G SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.354 p.K118N 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 61 23 27.38 74 0 0.00 SPATA17 128153 genome.wustl.edu 37 1 217824495 217824495 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 217824495 217824495 G A SNP SPATA17 ENST00000366933 human ensembl 70_37 +1 known missense c.215 p.R72K 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 30 14 31.82 47 0 0.00 SPATA17 128153 genome.wustl.edu 37 1 217824495 217824495 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 217824495 217824495 G A SNP SPATA17 ENST00000366933 human ensembl 70_37 +1 known missense c.215 p.R72K 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 18 4 18.18 61 0 0.00 SPATA19 219938 genome.wustl.edu 37 11 133711958 133711958 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 133711958 133711958 C G SNP SPATA19 ENST00000299140 human ensembl 70_37 -1 known missense c.480 p.M160I 0.000 NULL NULL - no_errors SPATA19 HGNC ENSG00000166118 141 49 25.65 201 0 0.00 SPATA20 64847 genome.wustl.edu 37 17 48625393 48625393 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 48625393 48625393 C T SNP SPATA20 ENST00000511937 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors SPATA20 HGNC ENSG00000006282 31 7 18.42 22 0 0.00 SPATA20 64847 genome.wustl.edu 37 17 48625789 48625789 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48625789 48625789 C T SNP SPATA20 ENST00000006658 human ensembl 70_37 +1 known nonsense c.271 p.Q91* 1.000 pfam_DUF255,superfamily_Thioredoxin-like_fold pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 40 13 24.53 41 0 0.00 SPATA21 374955 genome.wustl.edu 37 1 16736453 16736453 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16736453 16736453 C T SNP SPATA21 ENST00000335496 human ensembl 70_37 -1 known missense c.230 p.S77N 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SPATA21 HGNC ENSG00000187144 32 14 30.43 49 0 0.00 SPATA2L 124044 genome.wustl.edu 37 16 89764620 89764620 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89764620 89764620 C G SNP SPATA2L ENST00000289805 human ensembl 70_37 -1 known missense c.397 p.D133H 0.985 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 188 54 22.31 307 0 0.00 SPATA3 130560 genome.wustl.edu 37 2 231865094 231865094 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 231865094 231865094 C T SNP SPATA3 ENST00000454918 human ensembl 70_37 +1 known missense c.37 p.R13C 0.000 NULL NULL - no_errors SPATA3 HGNC ENSG00000173699 42 18 30.00 21 0 0.00 SPATA31A1 647060 genome.wustl.edu 37 9 39361204 39361204 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 9 39361204 39361204 G A SNP SPATA31A1 ENST00000377647 human ensembl 70_37 +1 known missense c.3442 p.V1148I 0.000 NULL NULL - no_errors SPATA31A1 HGNC ENSG00000204849 43 11 20.37 46 0 0.00 SPATA31A2 647060 genome.wustl.edu 37 9 39887980 39887980 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 39887980 39887980 G A SNP SPATA31A2 ENST00000456183 human ensembl 70_37 +1 known missense c.967 p.D323N 0.040 NULL NULL - no_errors SPATA31A2 HGNC ENSG00000204848 5 5 50.00 13 0 0.00 SPATA31A3 727830 genome.wustl.edu 37 9 40702760 40702760 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 40702760 40702760 T G SNP SPATA31A3 ENST00000356699 human ensembl 70_37 +1 known missense c.417 p.H139Q 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 337 49 12.69 418 0 0.00 SPATA31A3 727830 genome.wustl.edu 37 9 40703031 40703031 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 40703031 40703031 C T SNP SPATA31A3 ENST00000356699 human ensembl 70_37 +1 known missense c.688 p.R230W 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 46 15 24.59 72 0 0.00 SPATA31A6 389730 genome.wustl.edu 37 9 43625223 43625223 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 43625223 43625223 G A SNP SPATA31A6 ENST00000332857 human ensembl 70_37 -1 known missense c.3464 p.S1155L 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 259 54 17.25 235 0 0.00 SPATA31A6 389730 genome.wustl.edu 37 9 43627712 43627712 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 43627712 43627712 C G SNP SPATA31A6 ENST00000332857 human ensembl 70_37 -1 known missense c.975 p.Q325H 0.028 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 132 17 11.41 157 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84603757 84603757 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 84603757 84603757 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.24 p.L8 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 106 21 16.54 151 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84605720 84605720 + Missense_Mutation SNP G G T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 9 84605720 84605720 G T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.335 p.G112V 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 32 10 23.81 45 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84606145 84606145 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 84606145 84606145 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.760 p.E254K 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 94 42 30.88 129 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84606835 84606835 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 84606835 84606835 C T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known nonsense c.1450 p.Q484* 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 68 41 37.61 109 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84607470 84607470 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 84607470 84607470 C T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.2085 p.L695 0.007 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 70 11 13.58 136 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84607539 84607539 + Missense_Mutation SNP A A T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 84607539 84607539 A T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2154 p.K718N 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 114 48 29.63 120 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84607959 84607959 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 84607959 84607959 G T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2574 p.K858N 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 72 10 12.05 75 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84608110 84608110 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 9 84608110 84608110 A T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2725 p.T909S 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 73 9 10.98 24 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84608117 84608117 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 9 84608117 84608117 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2732 p.R911H 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 72 9 11.11 24 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84608577 84608577 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 84608577 84608577 G C SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.3192 p.L1064 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 87 39 30.71 184 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84609460 84609460 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 84609460 84609460 C G SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.4075 p.Q1359E 0.006 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 111 16 12.60 75 0 0.00 SPATA31D1 389763 genome.wustl.edu 37 9 84609736 84609736 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84609736 84609736 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.4351 p.A1451T 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 12 8 40.00 31 0 0.00 SPATA31D3 389762 genome.wustl.edu 37 9 84562977 84562977 + RNA SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 84562977 84562977 C G SNP SPATA31D3 ENST00000334208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC ENSG00000186788 85 26 23.42 61 0 0.00 SPATA31D3 389762 genome.wustl.edu 37 9 84564737 84564737 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84564737 84564737 T G SNP SPATA31D3 ENST00000334208 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D3 HGNC ENSG00000186788 5 4 44.44 12 0 0.00 SPATA31D4 389761 genome.wustl.edu 37 9 84549182 84549182 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84549182 84549182 A C SNP SPATA31D4 ENST00000341875 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D4 HGNC ENSG00000189357 0 7 100.00 23 0 0.00 SPATA31D5P 347127 genome.wustl.edu 37 9 84532425 84532425 + RNA SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 84532425 84532425 G C SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SPATA31D5P HGNC ENSG00000240632 74 44 36.97 88 0 0.00 SPATA31D5P 347127 genome.wustl.edu 37 9 84532636 84532636 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 84532636 84532636 A C SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SPATA31D5P HGNC ENSG00000240632 33 12 26.67 89 0 0.00 SPATA31D5P 347127 genome.wustl.edu 37 9 84532641 84532641 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 84532641 84532641 C T SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 34 46 57.50 40 0 0.00 SPATA31E1 286234 genome.wustl.edu 37 9 90499541 90499541 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 90499541 90499541 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.400 p.R134W 0.001 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 35 16 31.37 67 0 0.00 SPATA31E1 286234 genome.wustl.edu 37 9 90500620 90500620 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 90500620 90500620 C G SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.1218 p.F406L 0.009 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 14 9 39.13 46 0 0.00 SPATA31E1 286234 genome.wustl.edu 37 9 90500620 90500620 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 90500620 90500620 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known silent c.1218 p.F406 0.009 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 20 8 28.57 32 0 0.00 SPATA31E1 286234 genome.wustl.edu 37 9 90502270 90502270 + Missense_Mutation SNP G G C TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 9 90502270 90502270 G C SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.2868 p.R956S 0.001 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 14 8 36.36 17 0 0.00 SPATA31E1 286234 genome.wustl.edu 37 9 90503153 90503153 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 90503153 90503153 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known nonsense c.3751 p.Q1251* 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 45 8 15.09 50 0 0.00 SPATA32 124783 genome.wustl.edu 37 17 43332973 43332973 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 43332973 43332973 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.576 p.L192 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 46 17 26.56 47 0 0.00 SPATA32 124783 genome.wustl.edu 37 17 43333141 43333141 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 43333141 43333141 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.408 p.F136 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 16 30 65.22 42 0 0.00 SPATA32 124783 genome.wustl.edu 37 17 43333177 43333177 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 43333177 43333177 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.372 p.F124 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 23 15 39.47 26 0 0.00 SPATA4 132851 genome.wustl.edu 37 4 177113837 177113837 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 177113837 177113837 G A SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known missense c.629 p.A210V 0.004 pfam_DUF1042 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 71 73 50.34 154 1 0.63 SPATA4 132851 genome.wustl.edu 37 4 177114112 177114112 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 177114112 177114112 C G SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known missense c.464 p.R155P 0.333 pfam_DUF1042,superfamily_CH-domain pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 94 25 21.01 72 0 0.00 SPATA4 132851 genome.wustl.edu 37 4 177114225 177114225 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 4 177114225 177114225 G A SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known silent c.351 p.F117 1.000 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 36 11 23.40 38 0 0.00 SPATA5 166378 genome.wustl.edu 37 4 123844350 123844350 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 123844350 123844350 C T SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.53 p.S18L 0.142 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 21 7 25.00 24 0 0.00 SPATA5 166378 genome.wustl.edu 37 4 123850306 123850306 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 123850306 123850306 C G SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.400 p.L134V 0.036 superfamily_Asp_de-COase-like_fold pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 39 13 25.00 56 0 0.00 SPATA5 166378 genome.wustl.edu 37 4 123868526 123868526 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 123868526 123868526 C T SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.1597 p.L533F 0.999 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 29 17 36.96 44 0 0.00 SPATA5 166378 genome.wustl.edu 37 4 123949532 123949532 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 123949532 123949532 G A SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known silent c.2061 p.L687 0.996 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 21 3 12.50 44 0 0.00 SPATA5L1 79029 genome.wustl.edu 37 15 45707786 45707787 + Frame_Shift_Ins INS - - ATTTC TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 45707786 45707787 - ATTTC INS SPATA5L1 ENST00000305560 human ensembl 70_37 +1 known frame_shift_ins c.1646_1647 p.R551fs 1.000:0.981 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 98 18 15.52 72 0 0.00 SPATA6 54558 genome.wustl.edu 37 1 48764497 48764497 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 48764497 48764497 G A SNP SPATA6 ENST00000371847 human ensembl 70_37 -1 known missense c.1355 p.S452F 0.722 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 112 18 13.85 78 0 0.00 SPATA6 54558 genome.wustl.edu 37 1 48918758 48918758 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 48918758 48918758 G A SNP SPATA6 ENST00000371847 human ensembl 70_37 -1 known missense c.97 p.L33F 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 23 15 39.47 36 0 0.00 SPATA6L 55064 genome.wustl.edu 37 9 4622463 4622463 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 4622463 4622463 C G SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known missense c.717 p.L239F 0.000 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 28 9 24.32 30 0 0.00 SPATA6L 55064 genome.wustl.edu 37 9 4656056 4656056 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 4656056 4656056 C T SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known missense c.211 p.V71I 0.998 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 38 17 30.91 60 0 0.00 SPATA6L 55064 genome.wustl.edu 37 9 4661977 4661977 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4661977 4661977 G C SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known silent c.99 p.L33 0.995 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 13 11 45.83 14 0 0.00 SPATA6L 55064 genome.wustl.edu 37 9 4661989 4661989 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4661989 4661989 G A SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known silent c.87 p.L29 0.545 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 13 11 45.83 9 0 0.00 SPATA6L 55064 genome.wustl.edu 37 9 4666556 4666557 + RNA INS - - G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 4666556 4666557 - G INS SPATA6L ENST00000498087 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SPATA6L HGNC ENSG00000106686 38 6 13.64 38 0 0.00 SPATA7 55812 genome.wustl.edu 37 14 88892894 88892894 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 88892894 88892894 G A SNP SPATA7 ENST00000393545 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 9 12 57.14 19 0 0.00 SPATA9 83890 genome.wustl.edu 37 5 95018273 95018273 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 95018273 95018273 C G SNP SPATA9 ENST00000274432 human ensembl 70_37 -1 known missense c.109 p.D37H 1.000 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 13 27 67.50 58 0 0.00 SPATC1 375686 genome.wustl.edu 37 8 145094844 145094844 + Silent SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 145094844 145094844 C T SNP SPATC1 ENST00000377470 human ensembl 70_37 +1 known silent c.246 p.N82 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 33 18 35.29 66 0 0.00 SPATC1 375686 genome.wustl.edu 37 8 145095183 145095183 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 145095183 145095183 G A SNP SPATC1 ENST00000377470 human ensembl 70_37 +1 known silent c.585 p.L195 0.062 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 37 19 33.93 30 0 0.00 SPATC1 375686 genome.wustl.edu 37 8 145101575 145101575 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 145101575 145101575 G C SNP SPATC1 ENST00000377470 human ensembl 70_37 +1 known missense c.1494 p.Q498H 0.980 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 38 22 36.67 53 0 0.00 SPATC1L 84221 genome.wustl.edu 37 21 47581929 47581929 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 47581929 47581929 G A SNP SPATC1L ENST00000291672 human ensembl 70_37 -1 known silent c.597 p.I199 0.996 NULL NULL - no_errors SPATC1L HGNC ENSG00000160284 20 20 50.00 31 0 0.00 SPATS1 221409 genome.wustl.edu 37 6 44328224 44328224 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 44328224 44328224 C T SNP SPATS1 ENST00000288390 human ensembl 70_37 +1 known missense c.329 p.S110F 0.049 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 17 13 43.33 49 0 0.00 SPATS2 65244 genome.wustl.edu 37 12 49888630 49888630 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 49888630 49888630 C T SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known missense c.371 p.S124L 0.995 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 27 4 12.90 18 0 0.00 SPATS2 65244 genome.wustl.edu 37 12 49919880 49919880 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 49919880 49919880 C G SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known missense c.1480 p.Q494E 0.886 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 32 37 53.62 51 0 0.00 SPATS2 65244 genome.wustl.edu 37 12 49919880 49919880 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 49919880 49919880 C T SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known nonsense c.1480 p.Q494* 0.886 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 77 15 16.30 65 0 0.00 SPATS2L 26010 genome.wustl.edu 37 2 201284009 201284009 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 201284009 201284009 C G SNP SPATS2L ENST00000409755 human ensembl 70_37 +1 known missense c.325 p.Q109E 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 26 9 25.71 17 0 0.00 SPATS2L 26010 genome.wustl.edu 37 2 201305383 201305383 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 201305383 201305383 G C SNP SPATS2L ENST00000409755 human ensembl 70_37 +1 known missense c.754 p.E252Q 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 23 6 20.69 30 0 0.00 SPDEF 25803 genome.wustl.edu 37 6 34507169 34507169 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34507169 34507169 C G SNP SPDEF ENST00000374037 human ensembl 70_37 -1 known silent c.687 p.S229 0.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC ENSG00000124664 54 24 30.77 62 0 0.00 SPDEF 25803 genome.wustl.edu 37 6 34512080 34512080 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 34512080 34512080 G A SNP SPDEF ENST00000374037 human ensembl 70_37 -1 known silent c.153 p.P51 0.916 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC ENSG00000124664 40 5 11.11 61 0 0.00 SPDL1 54908 genome.wustl.edu 37 5 169020517 169020517 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 169020517 169020517 C G SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.496 p.L166V 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 21 11 34.38 40 0 0.00 SPDL1 54908 genome.wustl.edu 37 5 169023670 169023670 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 169023670 169023670 C G SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.997 p.L333V 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 40 7 14.89 30 0 0.00 SPDL1 54908 genome.wustl.edu 37 5 169028292 169028292 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 169028292 169028292 G A SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.1333 p.E445K 0.137 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 62 40 39.22 96 0 0.00 SPDYA 245711 genome.wustl.edu 37 2 29052078 29052078 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 29052078 29052078 T C SNP SPDYA ENST00000334056 human ensembl 70_37 +1 known silent c.445 p.L149 0.994 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 28 14 33.33 39 0 0.00 SPDYA 245711 genome.wustl.edu 37 2 29063288 29063288 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 29063288 29063288 C G SNP SPDYA ENST00000334056 human ensembl 70_37 +1 known nonsense c.803 p.S268* 0.018 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 101 25 19.84 135 0 0.00 SPDYC 387778 genome.wustl.edu 37 11 64940071 64940071 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64940071 64940071 G A SNP SPDYC ENST00000377185 human ensembl 70_37 +1 known missense c.511 p.E171K 1.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 41 9 18.00 66 0 0.00 SPDYE2 441273 genome.wustl.edu 37 7 102194904 102194904 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 102194904 102194904 G A SNP SPDYE2 ENST00000507918 human ensembl 70_37 +1 known missense c.259 p.A87T 0.144 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2 HGNC ENSG00000205238 61 15 19.74 102 0 0.00 SPDYE3 441272 genome.wustl.edu 37 7 99905525 99905525 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 99905525 99905525 C T SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.17 p.P6L 0.008 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 191 66 25.68 293 1 0.34 SPDYE3 441272 genome.wustl.edu 37 7 99909547 99909547 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 99909547 99909547 C T SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.719 p.S240L 0.022 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 38 15 28.30 60 0 0.00 SPDYE3 441272 genome.wustl.edu 37 7 99917593 99917593 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 99917593 99917593 G A SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.1630 p.D544N 0.025 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 152 33 17.84 169 0 0.00 SPECC1 92521 genome.wustl.edu 37 17 20107794 20107794 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 20107794 20107794 G A SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known silent c.432 p.T144 0.998 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 20 21 51.22 31 0 0.00 SPECC1 92521 genome.wustl.edu 37 17 20108175 20108175 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 20108175 20108175 C T SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known silent c.813 p.G271 0.004 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 9 3 25.00 16 0 0.00 SPECC1 92521 genome.wustl.edu 37 17 20156869 20156869 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 20156869 20156869 C T SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known missense c.2650 p.R884C 0.001 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 16 8 33.33 32 0 0.00 SPECC1L 23384 genome.wustl.edu 37 22 24698198 24698198 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 24698198 24698198 G C SNP SPECC1L ENST00000416735 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPECC1L HGNC ENSG00000100014 30 11 26.83 27 0 0.00 SPECC1L 23384 genome.wustl.edu 37 22 24724888 24724888 + Splice_Site SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24724888 24724888 G T SNP SPECC1L ENST00000314328 human ensembl 70_37 +1 known splice_site c.2220+1 e5+1 1.000 - - - no_errors SPECC1L HGNC ENSG00000100014 23 3 11.54 61 0 0.00 SPECC1L 23384 genome.wustl.edu 37 22 24765209 24765209 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24765209 24765209 C G SNP SPECC1L ENST00000314328 human ensembl 70_37 +1 known nonsense c.3008 p.S1003* 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 39 21 35.00 53 0 0.00 SPEF1 25876 genome.wustl.edu 37 20 3759456 3759456 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 3759456 3759456 G A SNP SPEF1 ENST00000463490 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors SPEF1 HGNC ENSG00000101222 20 13 39.39 52 0 0.00 SPEF1 25876 genome.wustl.edu 37 20 3759528 3759528 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 3759528 3759528 C T SNP SPEF1 ENST00000463490 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors SPEF1 HGNC ENSG00000101222 55 7 11.29 71 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35641588 35641588 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 35641588 35641588 C G SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.217 p.L73V 0.294 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 31 14 31.11 54 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35646907 35646907 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 35646907 35646907 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.724 p.E242K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 11 4 26.67 15 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35695837 35695837 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 35695837 35695837 G T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.1976 p.S659I 0.862 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 16 13 44.83 45 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35695837 35695837 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 5 35695837 35695837 G T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.1976 p.S659I 0.862 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 43 37 45.68 38 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35700753 35700753 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 35700753 35700753 C T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.2297 p.A766V 0.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 56 8 12.50 99 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35740349 35740349 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35740349 35740349 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.3310 p.E1104K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 42 14 25.00 49 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35792494 35792494 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35792494 35792494 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known silent c.4500 p.L1500 0.971 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 42 14 25.00 72 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35793312 35793312 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35793312 35793312 C T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.4606 p.R1536W 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 17 4 19.05 42 0 0.00 SPEF2 79925 genome.wustl.edu 37 5 35814619 35814619 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 35814619 35814619 G C SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.5433 p.E1811D 0.600 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 55 15 21.43 55 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220307972 220307972 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 220307972 220307972 G T SNP SPEG ENST00000498378 human ensembl 70_37 +1 known rna NULL NULL 0.181 - - - no_errors SPEG HGNC ENSG00000072195 10 5 33.33 32 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220312722 220312722 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 220312722 220312722 G T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.842 p.R281M 0.988 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 0 4 100.00 10 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220329158 220329158 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220329158 220329158 G A SNP SPEG ENST00000396695 human ensembl 70_37 +1 known silent c.333 p.L111 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 27 21 43.75 51 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220342149 220342149 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 220342149 220342149 G C SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.4711 p.E1571Q 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 19 8 29.63 25 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220348578 220348578 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 220348578 220348578 C T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel silent c.6393 p.F2131 0.855 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 38 13 25.49 29 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220353359 220353359 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220353359 220353359 C G SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.7998 p.I2666M 0.986 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 26 4 13.33 11 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220354197 220354197 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 220354197 220354197 C G SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel silent c.8457 p.V2819 0.984 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 47 18 27.69 48 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220354509 220354509 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220354509 220354509 G T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.8769 p.E2923D 0.995 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 33 14 29.79 47 0 0.00 SPEG 10290 genome.wustl.edu 37 2 220357648 220357648 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 220357648 220357648 C G SNP SPEG ENST00000485813 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPEG HGNC ENSG00000072195 50 22 30.56 35 0 0.00 SPEM1 374768 genome.wustl.edu 37 17 7324764 7324764 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 7324764 7324764 C G SNP SPEM1 ENST00000323675 human ensembl 70_37 +1 known nonsense c.770 p.S257* 0.681 NULL NULL - no_errors SPEM1 HGNC ENSG00000181323 29 5 14.71 52 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16237768 16237768 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16237768 16237768 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1215 p.Q405H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 29 12 29.27 66 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16242628 16242628 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16242628 16242628 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1249 p.E417K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 111 41 26.97 163 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16242634 16242634 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16242634 16242634 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1255 p.E419K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 107 39 26.71 158 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16245496 16245496 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16245496 16245496 A C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1471 p.K491Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 28 17 37.78 56 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16254826 16254826 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16254826 16254826 C A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.2091 p.Y697* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 12 6 33.33 19 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 16255142 16255143 GA - DEL SPEN ENST00000375759 human ensembl 70_37 +1 known frame_shift_del c.2407_2408 p.R806fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 20 6 23.08 32 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16255242 16255242 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16255242 16255242 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.2507 p.S836* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 10 7 41.18 9 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16255855 16255855 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 16255855 16255855 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.3120 p.V1040 0.014 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 40 13 24.53 33 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16255901 16255902 + Frame_Shift_Del DEL AG AG - TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 16255901 16255902 AG - DEL SPEN ENST00000375759 human ensembl 70_37 +1 known frame_shift_del c.3166_3167 p.R1056fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 8 3 27.27 11 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256108 16256108 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256108 16256108 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3373 p.E1125Q 0.644 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 7 7 50.00 13 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256225 16256225 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 16256225 16256225 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3490 p.D1164N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 47 18 27.69 46 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256255 16256255 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256255 16256255 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3520 p.E1174K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 14 8 34.78 12 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256303 16256303 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256303 16256303 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3568 p.E1190Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 13 6 31.58 9 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256501 16256501 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256501 16256501 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3766 p.E1256K 0.997 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 6 4 36.36 8 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256546 16256546 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256546 16256546 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.3811 p.E1271* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 6 8 57.14 14 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256967 16256967 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256967 16256967 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4232 p.R1411I 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 11 13 54.17 16 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16256972 16256972 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16256972 16256972 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4237 p.D1413N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 11 12 52.17 16 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257044 16257044 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257044 16257044 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4309 p.D1437H 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 12 12 50.00 26 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257220 16257220 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257220 16257220 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4485 p.M1495I 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 30 17 36.17 21 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257260 16257260 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257260 16257260 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4525 p.D1509N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 14 11 44.00 18 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257263 16257263 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257263 16257263 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4528 p.D1510N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 13 11 45.83 18 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257467 16257467 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 16257467 16257467 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4732 p.E1578Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 4 9 69.23 13 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257569 16257569 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16257569 16257569 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4834 p.D1612Y 0.190 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 10 5 33.33 31 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257893 16257893 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16257893 16257893 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.5158 p.E1720Q 0.070 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 22 20 47.62 42 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16257906 16257906 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16257906 16257906 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.5171 p.S1724* 0.003 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 285 86 23.18 395 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16258354 16258354 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 16258354 16258354 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.5619 p.E1873 0.984 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 35 5 12.50 32 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16258747 16258747 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 16258747 16258747 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.6012 p.P2004 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 20 6 23.08 26 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16259072 16259072 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16259072 16259072 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.6337 p.E2113Q 0.927 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 171 42 19.72 196 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16259513 16259513 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16259513 16259513 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.6778 p.E2260K 0.147 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 37 10 21.28 41 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16260296 16260296 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16260296 16260296 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.7561 p.D2521H 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 30 15 33.33 41 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16261839 16261839 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16261839 16261839 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.9104 p.S3035* 0.547 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 150 24 13.79 179 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16262059 16262059 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16262059 16262059 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.9324 p.I3108M 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 74 22 22.92 78 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16262320 16262320 + Silent SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 16262320 16262320 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.9585 p.V3195 0.789 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 46 14 23.33 33 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16262663 16262663 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 16262663 16262663 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.9928 p.D3310N 0.970 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 48 25 34.25 55 0 0.00 SPEN 23013 genome.wustl.edu 37 1 16264463 16264463 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 16264463 16264463 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.10666 p.E3556K 1.000 pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 36 21 36.84 79 0 0.00 SPERT 220082 genome.wustl.edu 37 13 46288084 46288084 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 46288084 46288084 C T SNP SPERT ENST00000310521 human ensembl 70_37 +1 known silent c.924 p.F308 0.044 NULL NULL - no_errors SPERT HGNC ENSG00000174015 12 4 25.00 10 0 0.00 SPERT 220082 genome.wustl.edu 37 13 46288426 46288426 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 46288426 46288426 G A SNP SPERT ENST00000310521 human ensembl 70_37 +1 known silent c.1266 p.A422 0.995 NULL NULL - no_errors SPERT HGNC ENSG00000174015 18 5 21.74 16 0 0.00 SPESP1 246777 genome.wustl.edu 37 15 69238196 69238196 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 69238196 69238196 C T SNP SPESP1 ENST00000310673 human ensembl 70_37 +1 known missense c.323 p.P108L 0.000 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 10 3 23.08 19 0 0.00 SPESP1 246777 genome.wustl.edu 37 15 69238687 69238687 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 69238687 69238687 G A SNP SPESP1 ENST00000310673 human ensembl 70_37 +1 known missense c.814 p.E272K 0.873 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 9 4 30.77 24 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44855359 44855359 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44855359 44855359 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.7292 p.P2431L 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 21 11 34.38 32 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44858173 44858173 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44858173 44858173 C T SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.6878 p.R2293Q 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 38 8 17.39 44 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44864782 44864782 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 44864782 44864782 G C SNP SPG11 ENST00000559347 human ensembl 70_37 -1 known rna NULL NULL 0.793 - - - no_errors SPG11 HGNC ENSG00000104133 25 4 13.79 22 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44864783 44864783 + RNA SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 44864783 44864783 A T SNP SPG11 ENST00000559347 human ensembl 70_37 -1 known rna NULL NULL 0.813 - - - no_errors SPG11 HGNC ENSG00000104133 25 4 13.79 22 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44876670 44876670 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44876670 44876670 C A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.5208 p.E1736D 0.833 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 16 12 42.86 31 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44881468 44881468 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44881468 44881468 C T SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.4888 p.E1630K 0.934 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 23 9 28.12 43 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44888480 44888480 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 44888480 44888480 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.4235 p.S1412L 0.002 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 21 18 46.15 36 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44907617 44907617 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 15 44907617 44907617 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known silent c.2982 p.L994 0.952 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 26 6 18.75 70 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44941174 44941174 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 44941174 44941174 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.1492 p.Q498E 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 50 12 19.35 37 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44941174 44941174 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 44941174 44941174 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.1492 p.Q498E 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 65 15 18.75 91 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44941199 44941199 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44941199 44941199 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known silent c.1467 p.L489 0.508 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 22 7 24.14 36 0 0.00 SPG11 80208 genome.wustl.edu 37 15 44944412 44944412 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 44944412 44944412 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known nonsense c.922 p.Q308* 0.991 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 61 15 19.74 43 0 0.00 SPG20 23111 genome.wustl.edu 37 13 36878517 36878517 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 36878517 36878517 C T SNP SPG20 ENST00000355182 human ensembl 70_37 -1 known silent c.1986 p.K662 0.304 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 43 30 41.10 69 0 0.00 SPG20 23111 genome.wustl.edu 37 13 36909405 36909405 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 36909405 36909405 C T SNP SPG20 ENST00000355182 human ensembl 70_37 -1 known missense c.563 p.G188E 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 20 8 28.57 21 0 0.00 SPG7 6687 genome.wustl.edu 37 16 89597205 89597205 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89597205 89597205 G C SNP SPG7 ENST00000268704 human ensembl 70_37 +1 known missense c.976 p.D326H 1.000 tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 47 20 29.85 60 0 0.00 SPG7 6687 genome.wustl.edu 37 16 89603184 89603184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89603184 89603184 G A SNP SPG7 ENST00000341316 human ensembl 70_37 +1 known missense c.1336 p.D446N 0.001 smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors SPG7 HGNC ENSG00000197912 270 81 23.08 351 0 0.00 SPG7 6687 genome.wustl.edu 37 16 89623345 89623345 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 89623345 89623345 G A SNP SPG7 ENST00000268704 human ensembl 70_37 +1 known silent c.2232 p.E744 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 26 23 46.94 51 0 0.00 SPHK1 8877 genome.wustl.edu 37 17 74381246 74381246 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74381246 74381246 G A SNP SPHK1 ENST00000323374 human ensembl 70_37 +1 known silent c.60 p.P20 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 1 12 92.31 25 0 0.00 SPHK1 8877 genome.wustl.edu 37 17 74383215 74383215 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 74383215 74383215 G C SNP SPHK1 ENST00000323374 human ensembl 70_37 +1 known missense c.961 p.D321H 0.958 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 50 15 23.08 68 0 0.00 SPHK2 56848 genome.wustl.edu 37 19 49128925 49128925 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 49128925 49128925 G A SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 32 23 41.82 50 0 0.00 SPHK2 56848 genome.wustl.edu 37 19 49131293 49131293 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49131293 49131293 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.909 p.I303 0.998 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 94 34 26.56 136 0 0.00 SPHK2 56848 genome.wustl.edu 37 19 49132817 49132817 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 49132817 49132817 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.1938 p.F646 0.999 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 33 15 31.25 36 0 0.00 SPHK2 56848 genome.wustl.edu 37 19 49132889 49132889 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 49132889 49132889 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.2010 p.F670 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 31 15 32.61 48 0 0.00 SPHK2 56848 genome.wustl.edu 37 19 49133018 49133018 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 49133018 49133018 G A SNP SPHK2 ENST00000245222 human ensembl 70_37 +1 known silent c.1953 p.G651 0.005 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 19 5 20.83 47 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228855752 228855752 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228855752 228855752 G C SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4923 p.I1641M 1.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 37 15 28.85 54 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228860227 228860227 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 228860227 228860227 C A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4632 p.M1544I 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 198 67 25.28 199 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228860311 228860311 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 228860311 228860311 G T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4548 p.S1516R 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 15 8 34.78 53 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228881750 228881750 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 228881750 228881750 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.3820 p.V1274M 0.690 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 40 12 23.08 90 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228882203 228882203 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 228882203 228882203 C A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known nonsense c.3367 p.E1123* 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 5 7 58.33 32 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228882252 228882252 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 228882252 228882252 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known silent c.3318 p.L1106 0.017 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 4 10 71.43 24 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228882421 228882421 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 228882421 228882421 G A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.3149 p.T1050M 0.101 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 17 6 26.09 22 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228883398 228883398 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 228883398 228883398 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.2172 p.M724I 0.989 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 13 24 63.16 54 0 0.00 SPHKAP 80309 genome.wustl.edu 37 2 228883518 228883518 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 228883518 228883518 G T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.2052 p.H684Q 0.824 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 29 20 40.82 63 0 0.00 SPIC 121599 genome.wustl.edu 37 12 101880137 101880137 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 101880137 101880137 G A SNP SPIC ENST00000299272 human ensembl 70_37 +1 known missense c.335 p.R112Q 0.999 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC ENSG00000166211 31 15 32.61 37 0 0.00 SPIC 121599 genome.wustl.edu 37 12 101880256 101880256 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 101880256 101880256 G A SNP SPIC ENST00000299272 human ensembl 70_37 +1 known missense c.454 p.E152K 0.998 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC ENSG00000166211 107 16 13.01 91 0 0.00 SPICE1 152185 genome.wustl.edu 37 3 113176079 113176079 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113176079 113176079 G C SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.1561 p.L521V 0.011 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 37 16 30.19 24 0 0.00 SPICE1 152185 genome.wustl.edu 37 3 113187197 113187197 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113187197 113187197 G A SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.944 p.S315L 0.001 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 18 8 30.77 25 0 0.00 SPICE1 152185 genome.wustl.edu 37 3 113187200 113187200 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 113187200 113187200 G A SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.941 p.S314L 0.000 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 18 4 18.18 23 0 0.00 SPIN1 10927 genome.wustl.edu 37 9 91090483 91090483 + RNA SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 91090483 91090483 C A SNP SPIN1 ENST00000469017 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors SPIN1 HGNC ENSG00000106723 21 10 32.26 61 0 0.00 SPIN2A 54466 genome.wustl.edu 37 X 57162266 57162266 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 57162266 57162266 C T SNP SPIN2A ENST00000374906 human ensembl 70_37 -1 known silent c.765 p.V255 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2A HGNC ENSG00000147059 29 29 50.00 65 0 0.00 SPIN2B 474343 genome.wustl.edu 37 X 57146635 57146635 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 X 57146635 57146635 G A SNP SPIN2B ENST00000275988 human ensembl 70_37 -1 known missense c.428 p.S143F 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2B HGNC ENSG00000186787 67 12 15.19 79 0 0.00 SPIN3 169981 genome.wustl.edu 37 X 57021344 57021344 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 57021344 57021344 G A SNP SPIN3 ENST00000374919 human ensembl 70_37 -1 known missense c.37 p.R13W 0.872 NULL pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 31 9 22.50 63 0 0.00 SPIN3 169981 genome.wustl.edu 37 X 57021369 57021369 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 57021369 57021369 C T SNP SPIN3 ENST00000374919 human ensembl 70_37 -1 known silent c.12 p.P4 0.006 NULL pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 46 9 16.36 45 0 0.00 SPINK4 27290 genome.wustl.edu 37 9 33221052 33221052 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 33221052 33221052 G A SNP SPINK4 ENST00000379723 human ensembl 70_37 +1 known missense c.76 p.D26N 0.000 NULL pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal - no_errors SPINK4 HGNC ENSG00000122711 103 71 40.57 107 0 0.00 SPINK5 11005 genome.wustl.edu 37 5 147486700 147486700 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 147486700 147486700 A G SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.1580 p.N527S 1.000 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 114 13 10.24 152 0 0.00 SPINK5 11005 genome.wustl.edu 37 5 147499874 147499875 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 147499874 147499875 - A INS SPINK5 ENST00000359874 human ensembl 70_37 +1 known frame_shift_ins c.2458_2459 p.K824fs 1.000:0.998 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 30 6 16.67 45 0 0.00 SPINK5 11005 genome.wustl.edu 37 5 147503405 147503405 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 147503405 147503405 C T SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.2548 p.R850C 0.772 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 42 6 12.50 39 0 0.00 SPINK5 11005 genome.wustl.edu 37 5 147510945 147510945 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 147510945 147510945 G A SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.3178 p.E1060K 1.000 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 29 14 32.56 39 0 0.00 SPINT1 6692 genome.wustl.edu 37 15 41146702 41146702 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 41146702 41146702 G C SNP SPINT1 ENST00000344051 human ensembl 70_37 +1 known missense c.1096 p.E366Q 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC ENSG00000166145 17 8 30.77 32 0 0.00 SPINT1 6692 genome.wustl.edu 37 15 41149135 41149135 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 41149135 41149135 G A SNP SPINT1 ENST00000344051 human ensembl 70_37 +1 known missense c.1552 p.E518K 1.000 NULL pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC ENSG00000166145 22 8 26.67 21 0 0.00 SPINT2 10653 genome.wustl.edu 37 19 38755600 38755600 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 38755600 38755600 C G SNP SPINT2 ENST00000301244 human ensembl 70_37 +1 known missense c.68 p.S23C 0.266 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 1 5 83.33 10 0 0.00 SPINT2 10653 genome.wustl.edu 37 19 38780921 38780921 + Splice_Site SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 38780921 38780921 G T SNP SPINT2 ENST00000301244 human ensembl 70_37 +1 known splice_site c.553+1 e5+1 0.996 - - - no_errors SPINT2 HGNC ENSG00000167642 33 12 26.67 40 0 0.00 SPIRE1 56907 genome.wustl.edu 37 18 12463427 12463427 + Nonsense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 18 12463427 12463427 G A SNP SPIRE1 ENST00000409402 human ensembl 70_37 -1 known nonsense c.1561 p.R521* 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 42 44 51.16 112 0 0.00 SPIRE2 84501 genome.wustl.edu 37 16 89922026 89922026 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 89922026 89922026 C T SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known missense c.910 p.P304S 0.975 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 30 19 38.78 71 0 0.00 SPIRE2 84501 genome.wustl.edu 37 16 89922592 89922592 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89922592 89922592 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known missense c.1050 p.I350M 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 76 51 40.16 140 0 0.00 SPIRE2 84501 genome.wustl.edu 37 16 89925647 89925647 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89925647 89925647 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known silent c.1347 p.L449 0.743 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 67 40 37.38 114 0 0.00 SPIRE2 84501 genome.wustl.edu 37 16 89936089 89936089 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89936089 89936089 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known missense c.1921 p.Q641E 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 38 17 30.91 46 0 0.00 SPN 6693 genome.wustl.edu 37 16 29675794 29675794 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29675794 29675794 G C SNP SPN ENST00000360121 human ensembl 70_37 +1 known missense c.745 p.D249H 0.000 NULL NULL - no_errors SPN HGNC ENSG00000197471 21 7 25.00 35 0 0.00 SPNS1 83985 genome.wustl.edu 37 16 28990592 28990592 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 28990592 28990592 G A SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.561 p.M187I 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 55 27 32.53 51 0 0.00 SPNS1 83985 genome.wustl.edu 37 16 28993737 28993737 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28993737 28993737 G C SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.1026 p.E342D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 24 25 51.02 47 0 0.00 SPNS1 83985 genome.wustl.edu 37 16 28995555 28995555 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 28995555 28995555 G A SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.1522 p.D508N 0.995 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 6 6 50.00 9 0 0.00 SPNS2 124976 genome.wustl.edu 37 17 4434019 4434019 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 4434019 4434019 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known silent c.666 p.F222 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 63 22 25.88 42 0 0.00 SPNS2 124976 genome.wustl.edu 37 17 4436544 4436544 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 4436544 4436544 C G SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known missense c.1095 p.I365M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 40 5 11.11 34 0 0.00 SPNS2 124976 genome.wustl.edu 37 17 4436614 4436614 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 4436614 4436614 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known missense c.1165 p.R389C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 71 40 36.04 131 0 0.00 SPNS2 124976 genome.wustl.edu 37 17 4437146 4437146 + Missense_Mutation SNP A A T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 4437146 4437146 A T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known missense c.1342 p.M448L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 22 13 37.14 37 0 0.00 SPNS2 124976 genome.wustl.edu 37 17 4439674 4439674 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 4439674 4439674 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known silent c.1560 p.L520 0.083 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 7 4 36.36 9 0 0.00 SPNS3 201305 genome.wustl.edu 37 17 4388365 4388365 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 17 4388365 4388365 G A SNP SPNS3 ENST00000575796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPNS3 HGNC ENSG00000182557 41 8 16.33 33 0 0.00 SPNS3 201305 genome.wustl.edu 37 17 4389539 4389539 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 4389539 4389539 G C SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known missense c.1196 p.R399T 0.959 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 21 24 53.33 58 0 0.00 SPNS3 201305 genome.wustl.edu 37 17 4389616 4389616 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 4389616 4389616 G C SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known missense c.1273 p.G425R 0.988 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 26 16 38.10 56 0 0.00 SPNS3 201305 genome.wustl.edu 37 17 4389826 4389826 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 4389826 4389826 G A SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known silent c.1398 p.L466 0.836 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 50 11 18.03 58 0 0.00 SPO11 23626 genome.wustl.edu 37 20 55917854 55917854 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 55917854 55917854 G C SNP SPO11 ENST00000371263 human ensembl 70_37 +1 known silent c.1029 p.L343 0.998 superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 23 11 32.35 21 0 0.00 SPOCD1 90853 genome.wustl.edu 37 1 32259416 32259416 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32259416 32259416 G T SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known missense c.2466 p.S822R 0.183 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 10 6 37.50 20 0 0.00 SPOCD1 90853 genome.wustl.edu 37 1 32279571 32279571 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 32279571 32279571 G T SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known missense c.1364 p.P455Q 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 40 55 57.89 70 0 0.00 SPOCD1 90853 genome.wustl.edu 37 1 32280449 32280449 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 32280449 32280449 G C SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known silent c.486 p.L162 0.043 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 43 16 27.12 44 0 0.00 SPOCK1 6695 genome.wustl.edu 37 5 136315127 136315127 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 136315127 136315127 G A SNP SPOCK1 ENST00000282223 human ensembl 70_37 -1 known silent c.1023 p.G341 0.997 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 25 22 46.81 75 0 0.00 SPOCK2 9806 genome.wustl.edu 37 10 73828011 73828011 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 73828011 73828011 G A SNP SPOCK2 ENST00000317376 human ensembl 70_37 -1 known nonsense c.523 p.R175* 0.970 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 30 19 38.78 83 0 0.00 SPOCK3 50859 genome.wustl.edu 37 4 167656176 167656176 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 167656176 167656176 C T SNP SPOCK3 ENST00000357154 human ensembl 70_37 -1 known missense c.1207 p.D403N 0.999 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 20 15 42.86 50 0 0.00 SPON1 10418 genome.wustl.edu 37 11 14279441 14279441 + RNA SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 11 14279441 14279441 G A SNP SPON1 ENST00000310358 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors SPON1 HGNC ENSG00000152268 26 24 48.00 54 0 0.00 SPON1 10418 genome.wustl.edu 37 11 14282292 14282292 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 14282292 14282292 G A SNP SPON1 ENST00000310358 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SPON1 HGNC ENSG00000152268 35 16 31.37 56 0 0.00 SPOP 8405 genome.wustl.edu 37 17 47696599 47696599 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 17 47696599 47696599 T C SNP SPOP ENST00000347630 human ensembl 70_37 -1 known missense c.349 p.M117V 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 23 12 34.29 37 0 0.00 SPOP 8405 genome.wustl.edu 37 17 47755313 47755313 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 47755313 47755313 G A SNP SPOP ENST00000502385 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SPOP HGNC ENSG00000121067 7 6 46.15 17 0 0.00 SPOPL 339745 genome.wustl.edu 37 2 139308479 139308479 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 139308479 139308479 G A SNP SPOPL ENST00000280098 human ensembl 70_37 +1 known silent c.207 p.L69 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 72 13 15.29 80 0 0.00 SPOPL 339745 genome.wustl.edu 37 2 139326556 139326556 + Missense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 2 139326556 139326556 C G SNP SPOPL ENST00000280098 human ensembl 70_37 +1 known missense c.1085 p.S362C 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 87 136 60.99 154 0 0.00 SPOPL 339745 genome.wustl.edu 37 2 139326585 139326585 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 139326585 139326585 C T SNP SPOPL ENST00000280098 human ensembl 70_37 +1 known nonsense c.1114 p.R372* 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 271 42 13.42 210 0 0.00 SPP1 6696 genome.wustl.edu 37 4 88901544 88901544 + Splice_Site SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 88901544 88901544 G C SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known splice_site c.175-1 e4-1 0.984 - - - no_errors SPP1 HGNC ENSG00000118785 38 12 24.00 64 0 0.00 SPP1 6696 genome.wustl.edu 37 4 88902690 88902690 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 88902690 88902690 G A SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known missense c.280 p.D94N 0.001 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 28 41 59.42 60 0 0.00 SPP1 6696 genome.wustl.edu 37 4 88902911 88902911 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 88902911 88902911 G A SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known silent c.501 p.L167 0.375 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 55 23 29.49 77 0 0.00 SPP1 6696 genome.wustl.edu 37 4 88904020 88904020 + Missense_Mutation SNP T T C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 4 88904020 88904020 T C SNP SPP1 ENST00000395080 human ensembl 70_37 +1 known missense c.917 p.L306S 0.963 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 25 9 26.47 48 0 0.00 SPP1 6696 genome.wustl.edu 37 4 88904114 88904114 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 88904114 88904114 G A SNP SPP1 ENST00000509659 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPP1 HGNC ENSG00000118785 6 4 40.00 28 0 0.00 SPP2 6694 genome.wustl.edu 37 2 234967524 234967524 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234967524 234967524 C T SNP SPP2 ENST00000168148 human ensembl 70_37 +1 known silent c.255 p.F85 0.729 pfam_Spp-24,pfam_Prot_inh_cystat pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 47 14 22.95 44 0 0.00 SPP2 6694 genome.wustl.edu 37 2 234975918 234975918 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 234975918 234975918 G T SNP SPP2 ENST00000168148 human ensembl 70_37 +1 known missense c.550 p.G184W 0.898 pfam_Spp-24 pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 25 15 37.50 37 0 0.00 SPPL2A 84888 genome.wustl.edu 37 15 51028310 51028310 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 51028310 51028310 C T SNP SPPL2A ENST00000261854 human ensembl 70_37 -1 known missense c.920 p.R307Q 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2A HGNC ENSG00000138600 3 18 85.71 26 0 0.00 SPPL2C 162540 genome.wustl.edu 37 17 43922606 43922606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43922606 43922606 G T SNP SPPL2C ENST00000329196 human ensembl 70_37 +1 known missense c.334 p.G112C 0.453 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2C HGNC ENSG00000185294 17 13 43.33 37 0 0.00 SPPL3 121665 genome.wustl.edu 37 12 121220471 121220471 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 121220471 121220471 C T SNP SPPL3 ENST00000353487 human ensembl 70_37 -1 known nonsense c.489 p.W163* 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 31 10 24.39 16 0 0.00 SPR 6697 genome.wustl.edu 37 2 73118555 73118555 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 73118555 73118555 G A SNP SPR ENST00000234454 human ensembl 70_37 +1 known silent c.675 p.L225 0.524 tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 66 19 22.35 95 0 0.00 SPRED1 161742 genome.wustl.edu 37 15 38616984 38616984 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 38616984 38616984 G A SNP SPRED1 ENST00000299084 human ensembl 70_37 +1 known missense c.397 p.E133K 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 71 28 28.28 70 0 0.00 SPRED2 200734 genome.wustl.edu 37 2 65571869 65571869 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 65571869 65571869 C T SNP SPRED2 ENST00000356388 human ensembl 70_37 -1 known missense c.188 p.R63Q 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED2 HGNC ENSG00000198369 52 25 32.47 86 0 0.00 SPRED3 399473 genome.wustl.edu 37 19 38886143 38886143 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 38886143 38886143 C T SNP SPRED3 ENST00000338502 human ensembl 70_37 +1 known silent c.591 p.F197 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED3 HGNC ENSG00000188766 24 10 29.41 25 0 0.00 SPRR1A 6698 genome.wustl.edu 37 1 152957716 152957716 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152957716 152957716 C T SNP SPRR1A ENST00000307122 human ensembl 70_37 +1 known nonsense c.10 p.Q4* 0.999 NULL pfam_Cornifin - no_errors SPRR1A HGNC ENSG00000169474 40 34 45.95 60 0 0.00 SPRR1B 6699 genome.wustl.edu 37 1 153004864 153004864 + Nonsense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 153004864 153004864 C T SNP SPRR1B ENST00000307098 human ensembl 70_37 +1 known nonsense c.43 p.Q15* 0.003 NULL pfam_Cornifin - no_errors SPRR1B HGNC ENSG00000169469 54 89 62.24 76 0 0.00 SPRR2D 6703 genome.wustl.edu 37 1 153012728 153012728 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 153012728 153012728 C G SNP SPRR2D ENST00000360379 human ensembl 70_37 -1 known missense c.95 p.C32S 0.008 NULL NULL - no_errors SPRR2D HGNC ENSG00000163216 139 41 22.65 124 0 0.00 SPRTN 83932 genome.wustl.edu 37 1 231474190 231474190 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 231474190 231474190 G A SNP SPRTN ENST00000295050 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 68 23 25.27 85 0 0.00 SPRY1 10252 genome.wustl.edu 37 4 124323415 124323415 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 124323415 124323415 C G SNP SPRY1 ENST00000339241 human ensembl 70_37 +1 known missense c.669 p.C223W 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 41 12 22.64 38 0 0.00 SPRY1 10252 genome.wustl.edu 37 4 124323449 124323449 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 124323449 124323449 G A SNP SPRY1 ENST00000339241 human ensembl 70_37 +1 known missense c.703 p.D235N 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 33 17 33.33 89 0 0.00 SPRY3 10251 genome.wustl.edu 37 X 155003588 155003588 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 155003588 155003588 C T SNP SPRY3 ENST00000302805 human ensembl 70_37 +1 known missense c.55 p.R19C 1.000 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 121 60 33.15 106 0 0.00 SPRY3 10251 genome.wustl.edu 37 X 155003760 155003760 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 155003760 155003760 C T SNP SPRY3 ENST00000302805 human ensembl 70_37 +1 known missense c.227 p.P76L 0.998 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 125 17 11.97 72 0 0.00 SPRY4 81848 genome.wustl.edu 37 5 141694154 141694154 + Frame_Shift_Del DEL G G - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 141694154 141694154 G - DEL SPRY4 ENST00000344120 human ensembl 70_37 -1 known frame_shift_del c.589 p.R197fs 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 10 2 16.67 27 0 0.00 SPRY4 81848 genome.wustl.edu 37 5 141694457 141694457 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 141694457 141694457 C T SNP SPRY4 ENST00000344120 human ensembl 70_37 -1 known missense c.286 p.E96K 0.999 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 18 34 65.38 51 0 0.00 SPRYD3 84926 genome.wustl.edu 37 12 53468542 53468542 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 53468542 53468542 C T SNP SPRYD3 ENST00000301463 human ensembl 70_37 -1 known missense c.398 p.R133H 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 10 8 44.44 35 0 0.00 SPSB1 80176 genome.wustl.edu 37 1 9416573 9416573 + Missense_Mutation SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 9416573 9416573 A G SNP SPSB1 ENST00000328089 human ensembl 70_37 +1 known missense c.623 p.K208R 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 8 7 46.67 12 0 0.00 SPSB2 84727 genome.wustl.edu 37 12 6981406 6981406 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 6981406 6981406 C G SNP SPSB2 ENST00000523102 human ensembl 70_37 -1 known missense c.660 p.R220S 1.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 43 8 15.69 50 0 0.00 SPSB2 84727 genome.wustl.edu 37 12 6981681 6981681 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 6981681 6981681 C T SNP SPSB2 ENST00000523102 human ensembl 70_37 -1 known missense c.385 p.E129K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 29 26 47.27 45 0 0.00 SPSB2 84727 genome.wustl.edu 37 12 6981744 6981744 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 6981744 6981744 C T SNP SPSB2 ENST00000523102 human ensembl 70_37 -1 known missense c.322 p.V108M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 34 5 12.82 44 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158581038 158581038 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158581038 158581038 C T SNP SPTA1 ENST00000485680 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SPTA1 HGNC ENSG00000163554 22 8 26.67 31 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158582665 158582665 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 158582665 158582665 T C SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.7076 p.N2359S 0.773 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 53 10 15.87 54 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158596788 158596788 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158596788 158596788 C T SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.5674 p.E1892K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 26 5 16.13 50 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158606460 158606460 + Frame_Shift_Del DEL C C - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 158606460 158606460 C - DEL SPTA1 ENST00000368148 human ensembl 70_37 -1 known frame_shift_del c.5281 p.E1761fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 17 6 26.09 34 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 158606546 158606546 T G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.5195 p.K1732T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 45 6 11.76 31 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158622383 158622383 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 158622383 158622383 A G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known silent c.3249 p.N1083 0.997 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 13 7 35.00 26 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158627368 158627368 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 158627368 158627368 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known nonsense c.2704 p.Q902* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 53 34 39.08 74 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 158627401 158627401 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known nonsense c.2671 p.R891* 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 16 28 63.64 52 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158637785 158637785 + Missense_Mutation SNP T T G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 158637785 158637785 T G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.1901 p.K634T 0.979 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 47 21 30.88 54 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158639538 158639538 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 158639538 158639538 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known silent c.1638 p.D546 0.002 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 75 66 46.81 388 0 0.00 SPTA1 6708 genome.wustl.edu 37 1 158641935 158641935 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 1 158641935 158641935 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.1402 p.R468C 0.993 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 38 31 44.93 60 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131331147 131331147 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 131331147 131331147 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.334 p.E112K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 60 10 14.08 66 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131344825 131344825 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 131344825 131344825 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1640 p.R547H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 101 18 15.13 106 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131345069 131345069 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 131345069 131345069 G C SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1747 p.D583H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 25 7 21.88 22 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131345416 131345416 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 131345416 131345416 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1867 p.A623T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 29 4 12.12 25 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131346188 131346188 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 131346188 131346188 C G SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.2133 p.T711 0.995 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 37 10 21.28 34 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131346737 131346737 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131346737 131346737 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.2370 p.F790 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 12 8 40.00 23 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131348188 131348188 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131348188 131348188 G T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.2722 p.E908* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 11 9 45.00 20 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131351132 131351132 + Silent SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 9 131351132 131351132 C G SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.2916 p.V972 0.425 superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 61 22 26.51 94 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131356479 131356479 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131356479 131356479 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.3241 p.E1081K 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 34 24 41.38 62 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131361301 131361301 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131361301 131361301 G C SNP SPTAN1 ENST00000475367 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors SPTAN1 HGNC ENSG00000197694 72 21 22.58 156 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131362259 131362259 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 131362259 131362259 G A SNP SPTAN1 ENST00000461855 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTAN1 HGNC ENSG00000197694 22 4 15.38 37 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131362264 131362264 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 131362264 131362264 C T SNP SPTAN1 ENST00000461855 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTAN1 HGNC ENSG00000197694 31 7 18.42 35 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131362362 131362362 + Frame_Shift_Del DEL G G - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 131362362 131362362 G - DEL SPTAN1 ENST00000358161 human ensembl 70_37 +1 known frame_shift_del c.3547 p.E1183fs 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 45 7 13.46 54 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131386727 131386727 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 131386727 131386727 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.5953 p.Q1985* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 12 3 20.00 13 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131386727 131386727 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 131386727 131386727 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.5953 p.Q1985* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 26 3 10.34 13 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131387373 131387373 + RNA SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 131387373 131387373 G A SNP SPTAN1 ENST00000491712 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SPTAN1 HGNC ENSG00000197694 29 4 12.12 47 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131389689 131389689 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 131389689 131389689 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.6601 p.E2201K 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 120 43 26.38 108 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131395165 131395165 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131395165 131395165 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.7239 p.E2413 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 17 8 32.00 18 0 0.00 SPTAN1 6709 genome.wustl.edu 37 9 131395181 131395181 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 131395181 131395181 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.7255 p.R2419W 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 19 4 17.39 25 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65216120 65216120 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 65216120 65216120 C T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.6891 p.A2297 0.288 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 22 4 15.38 19 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65240132 65240132 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 65240132 65240132 T C SNP SPTB ENST00000389722 human ensembl 70_37 -1 known missense c.4984 p.I1662V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 34 7 16.67 39 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65242109 65242109 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 65242109 65242109 C G SNP SPTB ENST00000389722 human ensembl 70_37 -1 known missense c.4576 p.E1526Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 18 22 55.00 60 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65253258 65253258 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 14 65253258 65253258 C T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known missense c.3425 p.R1142Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 37 14 27.45 50 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65259917 65259917 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 65259917 65259917 G T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.2464 p.R822 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 23 20 46.51 26 0 0.00 SPTB 6710 genome.wustl.edu 37 14 65268949 65268949 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 65268949 65268949 C T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.561 p.T187 0.105 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 60 8 11.76 67 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54856551 54856551 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 54856551 54856551 G T SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.2280 p.M760I 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 32 4 11.11 22 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54857139 54857139 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54857139 54857139 A G SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.2780 p.K927R 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 8 3 27.27 17 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54858188 54858188 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 54858188 54858188 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.3004 p.E1002K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 20 9 31.03 26 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54864866 54864866 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 54864866 54864866 G C SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.3784 p.E1262Q 0.998 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 31 11 26.19 53 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54871601 54871601 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 54871601 54871601 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.4147 p.E1383K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 30 7 18.92 15 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54874325 54874325 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 54874325 54874325 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.4924 p.E1642K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 23 31 57.41 77 0 0.00 SPTBN1 6711 genome.wustl.edu 37 2 54894740 54894740 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 54894740 54894740 G C SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known splice_site c.6834-1 e34-1 1.000 - - - no_errors SPTBN1 HGNC ENSG00000115306 52 10 16.13 56 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66457557 66457557 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66457557 66457557 G A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.5763 p.L1921 0.994 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 21 7 25.00 19 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66460084 66460084 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 11 66460084 66460084 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.5113 p.D1705N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 32 7 17.95 62 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66461714 66461714 + Nonsense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 66461714 66461714 C A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known nonsense c.4399 p.E1467* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 33 6 15.38 44 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66461724 66461724 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 66461724 66461724 C G SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.4389 p.S1463 0.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 35 5 12.50 51 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66467041 66467041 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 66467041 66467041 G C SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.3612 p.L1204 0.623 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 135 30 18.18 180 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66468011 66468011 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 66468011 66468011 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.3559 p.V1187M 0.988 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 29 7 19.44 39 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66472250 66472250 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 66472250 66472250 G T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.2497 p.H833N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 36 4 10.00 58 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66475127 66475127 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66475127 66475127 G A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.1513 p.R505W 0.997 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 35 11 23.91 31 0 0.00 SPTBN2 6712 genome.wustl.edu 37 11 66478212 66478212 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 66478212 66478212 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.914 p.R305H 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 28 7 20.00 45 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 40998873 40998873 + Nonsense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 40998873 40998873 C T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known nonsense c.499 p.Q167* 1.000 pirsf_Spectrin_bsu,superfamily_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 23 7 23.33 32 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41008209 41008209 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 41008209 41008209 G A SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.1072 p.E358K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 36 14 28.00 47 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41019436 41019436 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 41019436 41019436 G A SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.2740 p.D914N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 6 5 45.45 15 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41025495 41025495 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 41025495 41025495 C G SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.3091 p.L1031V 0.674 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 24 14 36.84 17 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41030459 41030459 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 41030459 41030459 T G SNP SPTBN4 ENST00000344104 human ensembl 70_37 +1 known missense c.3866 p.I1289S 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SPTBN4 HGNC ENSG00000160460 57 45 44.12 76 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41066134 41066134 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 41066134 41066134 G T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.5740 p.A1914S 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 31 4 11.43 35 0 0.00 SPTBN4 57731 genome.wustl.edu 37 19 41071420 41071420 + Nonsense_Mutation SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 41071420 41071420 G T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known nonsense c.6007 p.E2003* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 43 30 41.10 56 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42143328 42143328 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 42143328 42143328 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.10764 p.L3588 0.228 smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 48 31 39.24 61 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42146345 42146345 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 42146345 42146345 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.9677 p.G3226E 0.331 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 22 27 55.10 67 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42147040 42147040 + Silent SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 15 42147040 42147040 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.9558 p.Q3186 0.698 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 29 23 44.23 47 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42147508 42147508 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 42147508 42147508 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.9337 p.E3113K 0.866 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 83 22 20.95 93 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42147812 42147812 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 42147812 42147812 G A SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.9153 p.F3051 0.007 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 29 6 17.14 35 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42149153 42149153 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 15 42149153 42149153 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.8706 p.A2902 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 33 5 13.16 76 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42158019 42158020 + Frame_Shift_Ins INS - - CTCGGAA TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 42158019 42158020 - CTCGGAA INS SPTBN5 ENST00000320955 human ensembl 70_37 -1 known frame_shift_ins c.6905_6904 p.G2302fs 0.780:0.782 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 78 13 14.29 71 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42167077 42167077 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 42167077 42167077 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.4465 p.P1489T 0.961 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 29 5 14.71 66 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42171994 42171994 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 42171994 42171994 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.2880 p.L960 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 72 52 41.94 78 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42178429 42178429 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42178429 42178429 G A SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.1024 p.R342W 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 16 13 44.83 32 0 0.00 SPTBN5 51332 genome.wustl.edu 37 15 42179421 42179421 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42179421 42179421 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.878 p.R293K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 24 9 27.27 34 0 0.00 SPTLC1 10558 genome.wustl.edu 37 9 94821546 94821546 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 94821546 94821546 G A SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known missense c.605 p.S202F 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 38 27 41.54 35 0 0.00 SPTLC1 10558 genome.wustl.edu 37 9 94830364 94830364 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 94830364 94830364 C T SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known silent c.444 p.L148 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 40 16 28.57 31 0 0.00 SPTLC1 10558 genome.wustl.edu 37 9 94877647 94877647 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 94877647 94877647 C A SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known silent c.6 p.A2 0.992 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 48 36 42.86 84 0 0.00 SPTLC2 9517 genome.wustl.edu 37 14 77978688 77978688 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 77978688 77978688 C T SNP SPTLC2 ENST00000216484 human ensembl 70_37 -1 known missense c.1628 p.R543Q 0.995 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 60 23 27.71 79 0 0.00 SPTLC2 9517 genome.wustl.edu 37 14 78045425 78045425 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 78045425 78045425 C T SNP SPTLC2 ENST00000216484 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 19 4 17.39 34 0 0.00 SPTLC3 55304 genome.wustl.edu 37 20 13029847 13029847 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 13029847 13029847 G A SNP SPTLC3 ENST00000476791 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPTLC3 HGNC ENSG00000172296 37 21 36.21 72 0 0.00 SPTLC3 55304 genome.wustl.edu 37 20 13074214 13074214 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 13074214 13074214 C G SNP SPTLC3 ENST00000399002 human ensembl 70_37 +1 known missense c.816 p.F272L 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC ENSG00000172296 24 17 41.46 47 0 0.00 SPTLC3 55304 genome.wustl.edu 37 20 13090773 13090773 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 13090773 13090773 G C SNP SPTLC3 ENST00000399002 human ensembl 70_37 +1 known missense c.841 p.E281Q 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC ENSG00000172296 8 4 33.33 37 0 0.00 SPTY2D1 144108 genome.wustl.edu 37 11 18636241 18636241 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 18636241 18636241 G A SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.1580 p.S527L 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 81 15 15.62 123 0 0.00 SPTY2D1 144108 genome.wustl.edu 37 11 18636757 18636757 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 18636757 18636757 G A SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.1064 p.P355L 0.001 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 21 18 46.15 39 0 0.00 SPTY2D1 144108 genome.wustl.edu 37 11 18636763 18636763 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 18636763 18636763 G T SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.1058 p.P353H 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 34 4 10.53 20 0 0.00 SPTY2D1 144108 genome.wustl.edu 37 11 18637159 18637159 + Missense_Mutation SNP C C A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 11 18637159 18637159 C A SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.662 p.G221V 0.001 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 165 61 26.99 232 0 0.00 SPZ1 84654 genome.wustl.edu 37 5 79616659 79616659 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79616659 79616659 G T SNP SPZ1 ENST00000296739 human ensembl 70_37 +1 known missense c.625 p.D209Y 0.001 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 10 5 33.33 29 0 0.00 SPZ1 84654 genome.wustl.edu 37 5 79617033 79617033 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 79617033 79617033 G C SNP SPZ1 ENST00000296739 human ensembl 70_37 +1 known missense c.999 p.Q333H 0.520 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 9 5 35.71 8 0 0.00 SQLE 6713 genome.wustl.edu 37 8 126011819 126011819 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 126011819 126011819 G C SNP SQLE ENST00000265896 human ensembl 70_37 +1 known missense c.174 p.Q58H 0.875 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 54 12 18.18 41 0 0.00 SQLE 6713 genome.wustl.edu 37 8 126017781 126017781 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 126017781 126017781 C A SNP SQLE ENST00000265896 human ensembl 70_37 +1 known missense c.559 p.L187I 0.998 pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 48 14 22.58 34 0 0.00 SQSTM1 8878 genome.wustl.edu 37 5 179260716 179260716 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 179260716 179260716 C G SNP SQSTM1 ENST00000389805 human ensembl 70_37 +1 known missense c.1099 p.L367V 0.037 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 24 8 25.00 25 0 0.00 SRA1 10011 genome.wustl.edu 37 5 139937066 139937066 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 139937066 139937066 C T SNP SRA1 ENST00000336283 human ensembl 70_37 -1 known missense c.8 p.R3H 0.017 NULL pfam_SRA1-protein/COPII_Sec31 - no_errors SRA1 HGNC ENSG00000213523 25 42 62.69 56 0 0.00 SRBD1 55133 genome.wustl.edu 37 2 45704134 45704134 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 45704134 45704134 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known nonsense c.2047 p.Q683* 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 48 22 31.43 75 0 0.00 SRBD1 55133 genome.wustl.edu 37 2 45800396 45800396 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 45800396 45800396 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known silent c.1255 p.L419 0.991 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 34 11 24.44 58 0 0.00 SRBD1 55133 genome.wustl.edu 37 2 45808930 45808930 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 45808930 45808930 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known missense c.835 p.H279Y 0.903 pfam_Tex-like_N pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 22 6 21.43 25 0 0.00 SRC 6714 genome.wustl.edu 37 20 36031920 36031920 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 36031920 36031920 C G SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRC HGNC ENSG00000197122 46 14 23.33 17 0 0.00 SRC 6714 genome.wustl.edu 37 20 36032761 36032761 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 36032761 36032761 G T SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC ENSG00000197122 10 5 33.33 14 0 0.00 SRC 6714 genome.wustl.edu 37 20 36033164 36033164 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 36033164 36033164 G C SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC ENSG00000197122 6 5 45.45 10 0 0.00 SRC 6714 genome.wustl.edu 37 20 36033336 36033336 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 36033336 36033336 G T SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRC HGNC ENSG00000197122 32 4 11.11 24 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30718640 30718640 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 30718640 30718640 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.443 p.S148F 1.000 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 38 34 47.22 58 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30721367 30721367 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 30721367 30721367 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1052 p.S351C 0.971 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 29 4 12.12 66 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30721400 30721400 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30721400 30721400 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1085 p.R362Q 0.003 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 49 30 37.97 98 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30723240 30723240 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30723240 30723240 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1577 p.S526F 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 70 44 38.60 115 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30723395 30723395 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30723395 30723395 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1732 p.L578V 0.985 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 99 37 27.21 162 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30724940 30724940 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 30724940 30724940 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.2401 p.R801G 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 96 15 13.51 115 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30724941 30724941 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30724941 30724941 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.2402 p.R801H 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 25 20 44.44 97 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30732237 30732237 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30732237 30732237 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3191 p.S1064F 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 61 22 26.51 78 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30732630 30732630 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30732630 30732630 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3374 p.S1125C 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 53 25 32.05 80 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30733487 30733487 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 16 30733487 30733487 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3586 p.R1196C 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 35 42 54.55 90 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30735135 30735135 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30735135 30735135 A C SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.4390 p.T1464P 0.891 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 24 12 33.33 64 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30735462 30735462 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30735462 30735462 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.4717 p.L1573V 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 21 6 22.22 15 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30736067 30736067 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 30736067 30736067 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known silent c.5322 p.S1774 0.198 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 21 8 27.59 32 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30748554 30748554 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 16 30748554 30748554 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7193 p.R2398H 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 29 23 44.23 44 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30748767 30748767 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30748767 30748767 C A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known nonsense c.7406 p.S2469* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 160 49 23.11 147 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30748823 30748823 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30748823 30748823 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7462 p.P2488A 0.297 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 185 51 21.61 172 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30749064 30749064 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30749064 30749064 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7703 p.S2568F 0.079 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 110 20 15.38 105 0 0.00 SRCAP 10847 genome.wustl.edu 37 16 30749702 30749702 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 16 30749702 30749702 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.8341 p.V2781I 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 58 20 25.64 68 0 0.00 SRCIN1 80725 genome.wustl.edu 37 17 36699365 36699365 + RNA SNP A A T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36699365 36699365 A T SNP SRCIN1 ENST00000398579 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRCIN1 HGNC ENSG00000017373 19 10 34.48 33 0 0.00 SRCIN1 80725 genome.wustl.edu 37 17 36714613 36714613 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 36714613 36714613 G A SNP SRCIN1 ENST00000264659 human ensembl 70_37 -1 known missense c.2051 p.A684V 0.998 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 27 24 47.06 53 0 0.00 SRCIN1 80725 genome.wustl.edu 37 17 36719744 36719744 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 17 36719744 36719744 C T SNP SRCIN1 ENST00000264659 human ensembl 70_37 -1 known silent c.555 p.L185 1.000 pfam_AIP3_C pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 23 17 42.50 41 0 0.00 SRCRB4D 136853 genome.wustl.edu 37 7 76019544 76019544 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 76019544 76019544 G A SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known silent c.1560 p.L520 0.992 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC ENSG00000146700 11 8 42.11 20 0 0.00 SRCRB4D 136853 genome.wustl.edu 37 7 76021282 76021282 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 76021282 76021282 G A SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known silent c.1410 p.D470 0.962 superfamily_Srcr_rcpt-rel pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC ENSG00000146700 25 8 24.24 34 0 0.00 SRCRB4D 136853 genome.wustl.edu 37 7 76033741 76033741 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76033741 76033741 C T SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known missense c.16 p.E6K 0.915 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC ENSG00000146700 23 10 29.41 51 0 0.00 SRD5A2 6716 genome.wustl.edu 37 2 31751095 31751095 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 31751095 31751095 G C SNP SRD5A2 ENST00000233139 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRD5A2 HGNC ENSG00000049319 13 4 23.53 18 0 0.00 SRD5A2 6716 genome.wustl.edu 37 2 31805820 31805820 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 31805820 31805820 C T SNP SRD5A2 ENST00000233139 human ensembl 70_37 -1 known rna NULL NULL 0.185 - - - no_errors SRD5A2 HGNC ENSG00000049319 21 18 46.15 13 0 0.00 SRD5A3 79644 genome.wustl.edu 37 4 56212638 56212638 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 56212638 56212638 C G SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known missense c.135 p.I45M 0.973 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 5 5 50.00 17 0 0.00 SRD5A3 79644 genome.wustl.edu 37 4 56230311 56230311 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 56230311 56230311 C T SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known silent c.435 p.F145 0.834 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 121 51 29.65 215 0 0.00 SRD5A3 79644 genome.wustl.edu 37 4 56233805 56233805 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 56233805 56233805 C A SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known missense c.613 p.L205I 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 18 10 35.71 34 0 0.00 SREBF1 6720 genome.wustl.edu 37 17 17716720 17716720 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 17716720 17716720 C T SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.3266 p.R1089H 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC ENSG00000072310 6 5 45.45 11 0 0.00 SREBF1 6720 genome.wustl.edu 37 17 17720301 17720301 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 17720301 17720301 G A SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.1846 p.R616C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC ENSG00000072310 12 11 47.83 25 0 0.00 SREBF1 6720 genome.wustl.edu 37 17 17723446 17723446 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 17723446 17723446 G A SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.571 p.P191S 0.013 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC ENSG00000072310 58 14 19.44 68 0 0.00 SREBF2 6721 genome.wustl.edu 37 22 42267031 42267031 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 42267031 42267031 C T SNP SREBF2 ENST00000361204 human ensembl 70_37 +1 known nonsense c.859 p.Q287* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF2 HGNC ENSG00000198911 33 18 35.29 70 0 0.00 SREBF2 6721 genome.wustl.edu 37 22 42294721 42294721 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 42294721 42294721 G A SNP SREBF2 ENST00000361204 human ensembl 70_37 +1 known missense c.2674 p.D892N 0.999 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF2 HGNC ENSG00000198911 29 10 25.64 78 0 0.00 SREK1 140890 genome.wustl.edu 37 5 65440340 65440340 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 65440340 65440340 G C SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.136 p.E46Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 27 56 67.47 92 0 0.00 SREK1 140890 genome.wustl.edu 37 5 65454727 65454727 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 65454727 65454727 C T SNP SREK1 ENST00000522912 human ensembl 70_37 +1 known missense c.386 p.S129L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 22 10 31.25 29 0 0.00 SREK1 140890 genome.wustl.edu 37 5 65458257 65458257 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 65458257 65458257 C A SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.592 p.Q198K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 28 18 39.13 42 0 0.00 SREK1 140890 genome.wustl.edu 37 5 65465899 65465899 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 65465899 65465899 C T SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.1022 p.S341L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 19 23 54.76 36 0 0.00 SREK1 140890 genome.wustl.edu 37 5 65475515 65475515 + RNA SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 65475515 65475515 G T SNP SREK1 ENST00000284041 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SREK1 HGNC ENSG00000153914 20 3 13.04 38 0 0.00 SREK1IP1 285672 genome.wustl.edu 37 5 64023951 64023951 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 64023951 64023951 C G SNP SREK1IP1 ENST00000513458 human ensembl 70_37 -1 known missense c.261 p.L87F 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 103 35 25.00 117 0 0.00 SREK1IP1 285672 genome.wustl.edu 37 5 64023998 64023998 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 64023998 64023998 C T SNP SREK1IP1 ENST00000513458 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 104 32 23.53 119 0 0.00 SRF 6722 genome.wustl.edu 37 6 43143632 43143632 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 43143632 43143632 G A SNP SRF ENST00000265354 human ensembl 70_37 +1 known silent c.969 p.L323 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 49 30 37.97 86 0 0.00 SPATA42 642864 genome.wustl.edu 37 1 109400025 109400025 + RNA SNP A A T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 109400025 109400025 A T SNP SRG7 ENST00000369989 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-475E11.5 Clone_based_vega_gene ENSG00000203897 66 23 25.56 67 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64383826 64383826 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 64383826 64383826 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.400 p.E134K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 16 13 44.83 16 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64410757 64410757 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 64410757 64410757 G T SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known nonsense c.454 p.E152* 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 12 13 52.00 36 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64436615 64436615 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 64436615 64436615 G C SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.535 p.E179Q 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 38 7 15.56 22 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64456756 64456756 + Silent SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 12 64456756 64456756 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.861 p.A287 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 32 15 31.91 39 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64458903 64458903 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64458903 64458903 C T SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.1029 p.C343 0.999 superfamily_Fuc/Ara_isomerase_C pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 76 12 13.64 118 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64491142 64491142 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 64491142 64491142 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.1800 p.L600 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 66 18 21.43 69 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64505618 64505618 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 64505618 64505618 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.1996 p.V666I 0.997 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 23 17 42.50 37 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64519864 64519864 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 64519864 64519864 G C SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.2332 p.E778Q 0.996 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 53 22 29.33 89 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64521827 64521827 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 64521827 64521827 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.2727 p.R909 0.961 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 42 7 14.29 53 0 0.00 SRGAP1 57522 genome.wustl.edu 37 12 64536255 64536255 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 64536255 64536255 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.3061 p.E1021K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 34 6 15.00 40 0 0.00 SRGAP3 9901 genome.wustl.edu 37 3 9057375 9057375 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 9057375 9057375 G C SNP SRGAP3 ENST00000383836 human ensembl 70_37 -1 known missense c.1719 p.I573M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 24 3 11.11 30 0 0.00 SRGAP3 9901 genome.wustl.edu 37 3 9069806 9069806 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 9069806 9069806 C A SNP SRGAP3 ENST00000360413 human ensembl 70_37 -1 known missense c.1445 p.R482I 1.000 pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 30 21 41.18 66 0 0.00 SRGAP3-AS1 100874103 genome.wustl.edu 37 3 9057523 9057523 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9057523 9057523 G A SNP SRGAP3-AS1 ENST00000414633 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SRGAP3-AS1 HGNC ENSG00000224808 5 5 50.00 11 0 0.00 SRGN 5552 genome.wustl.edu 37 10 70863643 70863643 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70863643 70863643 G A SNP SRGN ENST00000242465 human ensembl 70_37 +1 known missense c.244 p.D82N 0.084 pfam_Serglycin pfam_Serglycin - no_errors SRGN HGNC ENSG00000122862 44 30 40.54 71 0 0.00 SRL 6345 genome.wustl.edu 37 16 4242627 4242627 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 4242627 4242627 C T SNP SRL ENST00000399609 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 NULL pfam_Dynamin_GTPase,pfam_GTP_binding_domain - no_errors SRL HGNC ENSG00000185739 73 32 30.48 152 0 0.00 SRM 6723 genome.wustl.edu 37 1 11116762 11116762 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 11116762 11116762 G A SNP SRM ENST00000376957 human ensembl 70_37 -1 known missense c.434 p.S145F 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 72 33 31.43 109 0 0.00 SRMS 6725 genome.wustl.edu 37 20 62178640 62178640 + Silent SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 62178640 62178640 G C SNP SRMS ENST00000217188 human ensembl 70_37 -1 known silent c.177 p.L59 0.454 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 62 13 17.33 76 0 0.00 SRMS 6725 genome.wustl.edu 37 20 62178747 62178747 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62178747 62178747 C T SNP SRMS ENST00000217188 human ensembl 70_37 -1 known missense c.70 p.G24S 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 26 7 21.21 17 0 0.00 SRP14 6727 genome.wustl.edu 37 15 40331051 40331051 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 40331051 40331051 C T SNP SRP14 ENST00000559439 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRP14 HGNC ENSG00000140319 22 4 15.38 32 0 0.00 SRP19 6728 genome.wustl.edu 37 5 112200184 112200184 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 112200184 112200184 C G SNP SRP19 ENST00000505459 human ensembl 70_37 +1 known missense c.148 p.Q50E 1.000 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC ENSG00000153037 127 35 21.60 178 0 0.00 SRP19 6728 genome.wustl.edu 37 5 112203080 112203080 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112203080 112203080 A C SNP SRP19 ENST00000282999 human ensembl 70_37 +1 putative missense c.313 p.S105R 0.953 NULL pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC ENSG00000153037 15 3 16.67 37 0 0.00 SRP68 6730 genome.wustl.edu 37 17 74041399 74041399 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 74041399 74041399 G A SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known silent c.1368 p.L456 0.985 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 129 31 19.38 198 1 0.50 SRP68 6730 genome.wustl.edu 37 17 74053615 74053615 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74053615 74053615 T C SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known missense c.847 p.T283A 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 47 24 33.80 73 0 0.00 SRP68 6730 genome.wustl.edu 37 17 74066478 74066478 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 74066478 74066478 C A SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known nonsense c.232 p.G78* 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 24 11 31.43 26 0 0.00 SRP72 6731 genome.wustl.edu 37 4 57344554 57344554 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57344554 57344554 G A SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known missense c.652 p.E218K 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 34 12 26.09 23 0 0.00 SRP72 6731 genome.wustl.edu 37 4 57354143 57354143 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57354143 57354143 G C SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known missense c.1188 p.L396F 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 24 4 14.29 35 0 0.00 SRP72 6731 genome.wustl.edu 37 4 57355616 57355616 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 57355616 57355616 C T SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known silent c.1287 p.F429 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 41 16 28.07 44 0 0.00 SRP9 6726 genome.wustl.edu 37 1 225977058 225977058 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225977058 225977058 G A SNP SRP9 ENST00000304786 human ensembl 70_37 +1 known silent c.258 p.E86 1.000 NULL pfam_Signal_recog_particle_SRP9,superfamily_Signal_recog_particle_SRP9/14,pirsf_Signal_recog_particle_SRP9 - no_errors SRP9 HGNC ENSG00000143742 24 13 35.14 26 0 0.00 SRPK1 6732 genome.wustl.edu 37 6 35806520 35806520 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35806520 35806520 G A SNP SRPK1 ENST00000373822 human ensembl 70_37 -1 known silent c.1422 p.L474 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK1 HGNC ENSG00000096063 25 19 43.18 45 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104766234 104766234 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 104766234 104766234 C T SNP SRPK2 ENST00000465072 human ensembl 70_37 -1 known missense c.254 p.R85K 1.000 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_errors SRPK2 HGNC ENSG00000135250 25 10 28.57 34 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104773330 104773330 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 104773330 104773330 C A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known nonsense c.1660 p.E554* 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 20 31 60.78 63 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104783727 104783727 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 104783727 104783727 C T SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known silent c.864 p.K288 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 63 34 35.05 67 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104809665 104809665 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 104809665 104809665 G A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.277 p.H93Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 17 6 26.09 17 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104844135 104844135 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 104844135 104844135 C G SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.169 p.E57Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 27 25 48.08 59 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 104909303 104909303 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 104909303 104909303 C T SNP SRPK2 ENST00000462282 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SRPK2 HGNC ENSG00000135250 61 14 18.67 76 0 0.00 SRPK2 6733 genome.wustl.edu 37 7 105029109 105029109 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 105029109 105029109 C A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.57 p.E19D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 10 5 33.33 31 0 0.00 SRPK3 26576 genome.wustl.edu 37 X 153049643 153049643 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153049643 153049643 G C SNP SRPK3 ENST00000370101 human ensembl 70_37 +1 known missense c.1122 p.E374D 0.229 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC ENSG00000184343 74 46 38.33 89 0 0.00 SRPK3 26576 genome.wustl.edu 37 X 153050593 153050593 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 153050593 153050593 C T SNP SRPK3 ENST00000370101 human ensembl 70_37 +1 known missense c.1484 p.S495L 0.997 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC ENSG00000184343 47 30 38.96 46 0 0.00 SRPRB 58477 genome.wustl.edu 37 3 133525541 133525541 + Missense_Mutation SNP T T A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 133525541 133525541 T A SNP SRPRB ENST00000466490 human ensembl 70_37 +1 known missense c.243 p.F81L 0.999 pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA - no_errors SRPRB HGNC ENSG00000144867 61 17 21.79 82 0 0.00 SRPX 8406 genome.wustl.edu 37 X 38016209 38016209 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 38016209 38016209 G A SNP SRPX ENST00000378533 human ensembl 70_37 -1 known silent c.1029 p.L343 0.989 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 51 18 26.09 55 0 0.00 SRPX 8406 genome.wustl.edu 37 X 38031228 38031228 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 38031228 38031228 C T SNP SRPX ENST00000378533 human ensembl 70_37 -1 known silent c.432 p.E144 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 66 22 24.72 80 0 0.00 SRPX2 27286 genome.wustl.edu 37 X 99901356 99901356 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 99901356 99901356 C G SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known missense c.37 p.L13V 0.957 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 21 3 12.50 54 0 0.00 SRPX2 27286 genome.wustl.edu 37 X 99905897 99905897 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 99905897 99905897 C G SNP SRPX2 ENST00000481988 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRPX2 HGNC ENSG00000102359 27 7 20.00 41 0 0.00 SRPX2 27286 genome.wustl.edu 37 X 99920345 99920345 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 99920345 99920345 C T SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known missense c.638 p.S213F 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 57 16 21.92 76 0 0.00 SRPX2 27286 genome.wustl.edu 37 X 99920650 99920650 + Silent SNP A A G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 99920650 99920650 A G SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known silent c.777 p.V259 0.986 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 71 8 10.00 71 0 0.00 SRR 63826 genome.wustl.edu 37 17 2222189 2222189 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 2222189 2222189 G A SNP SRR ENST00000344595 human ensembl 70_37 +1 known missense c.365 p.G122E 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC ENSG00000167720 45 14 23.73 53 0 0.00 SRRD 402055 genome.wustl.edu 37 22 26887615 26887615 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 22 26887615 26887615 G A SNP SRRD ENST00000215917 human ensembl 70_37 +1 known missense c.997 p.E333K 0.000 NULL pfam_SRR1-like - no_errors SRRD HGNC ENSG00000100104 21 8 27.59 12 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2808478 2808478 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2808478 2808478 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.523 p.R175W 0.919 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 237 59 19.93 362 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2812010 2812010 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 2812010 2812010 G A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.1481 p.R494Q 0.898 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 53 8 12.90 63 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2812362 2812362 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2812362 2812362 G T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known silent c.1833 p.R611 0.013 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 37 27 42.19 63 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2812793 2812793 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2812793 2812793 C A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2264 p.S755Y 0.998 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 6 5 45.45 19 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2812813 2812813 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 2812813 2812813 C G SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2284 p.L762V 0.996 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 168 87 34.12 262 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2813042 2813042 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2813042 2813042 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2513 p.S838L 0.042 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 19 16 45.71 60 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2813050 2813050 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2813050 2813050 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2521 p.H841Y 0.282 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 19 19 50.00 60 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2813286 2813286 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2813286 2813286 G A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known silent c.2757 p.V919 0.001 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 60 15 20.00 40 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2813800 2813801 + Frame_Shift_Ins INS - - A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 2813800 2813801 - A INS SRRM2 ENST00000301740 human ensembl 70_37 +1 known frame_shift_ins c.3271_3272 p.T1092fs 0.969:0.793 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 43 28 39.44 103 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2815031 2815031 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 2815031 2815031 C G SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known nonsense c.4502 p.S1501* 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 46 7 13.21 37 0 0.00 SRRM2 23524 genome.wustl.edu 37 16 2820872 2820872 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 2820872 2820872 G A SNP SRRM2 ENST00000574866 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRRM2 HGNC ENSG00000167978 34 6 15.00 39 0 0.00 SRRM2-AS1 100128788 genome.wustl.edu 37 16 2789023 2789023 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 2789023 2789023 C T SNP SRRM2-AS1 ENST00000382313 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRRM2-AS1 HGNC ENSG00000205913 79 11 12.22 45 0 0.00 SRRM2-AS1 100128788 genome.wustl.edu 37 16 2794531 2794531 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 2794531 2794531 C T SNP SRRM2-AS1 ENST00000571305 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors SRRM2-AS1 HGNC ENSG00000205913 34 4 10.53 24 0 0.00 SRRM3 222183 genome.wustl.edu 37 7 75896635 75896635 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 7 75896635 75896635 G A SNP SRRM3 ENST00000388802 human ensembl 70_37 +1 known missense c.890 p.S297N 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 14 5 26.32 11 0 0.00 SRRM4 84530 genome.wustl.edu 37 12 119540159 119540159 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 119540159 119540159 C G SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.250 p.R84G 0.997 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 45 10 18.18 45 0 0.00 SRRM4 84530 genome.wustl.edu 37 12 119563259 119563259 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 119563259 119563259 T C SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.589 p.S197P 0.779 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 59 13 18.06 85 0 0.00 SRRM4 84530 genome.wustl.edu 37 12 119592176 119592176 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 12 119592176 119592176 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.1520 p.R507Q 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 70 8 10.26 30 0 0.00 SRRM4 84530 genome.wustl.edu 37 12 119594444 119594444 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 119594444 119594444 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known silent c.1677 p.R559 0.961 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 12 8 40.00 16 0 0.00 SRRM4 84530 genome.wustl.edu 37 12 119594444 119594444 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 119594444 119594444 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known silent c.1677 p.R559 0.961 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 17 4 19.05 14 0 0.00 SRRM5 100170229 genome.wustl.edu 37 19 44117582 44117582 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 44117582 44117582 T C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1354 p.C452R 0.000 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 76 9 10.34 103 0 0.00 SRRM5 100170229 genome.wustl.edu 37 19 44117613 44117613 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44117613 44117613 G C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1385 p.R462T 0.016 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 99 12 10.81 56 0 0.00 SRRM5 100170229 genome.wustl.edu 37 19 44117971 44117971 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44117971 44117971 G C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1743 p.E581D 0.000 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 56 18 24.32 27 0 0.00 SRRM5 100170229 genome.wustl.edu 37 19 44118135 44118135 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 44118135 44118135 G A SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1907 p.R636K 0.012 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 34 6 15.00 16 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100473329 100473329 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 100473329 100473329 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.118 p.D40N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 36 21 36.84 65 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482396 100482396 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100482396 100482396 G C SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.978 p.K326N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 18 25 58.14 45 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482406 100482406 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100482406 100482406 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.988 p.G330C 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 25 21 45.65 47 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482407 100482407 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100482407 100482407 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.989 p.G330V 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 26 21 44.68 47 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482420 100482420 + Silent SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 100482420 100482420 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known silent c.1002 p.K334 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 27 4 12.90 26 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482440 100482440 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100482440 100482440 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1022 p.S341F 0.821 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 50 7 12.28 39 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482651 100482651 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 100482651 100482651 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1149 p.K383N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 24 4 14.29 13 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100482939 100482939 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100482939 100482939 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1262 p.S421F 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 42 9 17.65 45 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100483362 100483362 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100483362 100483362 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1355 p.S452L 0.994 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 65 13 16.67 51 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100485023 100485023 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100485023 100485023 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known silent c.2055 p.Q685 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 15 11 42.31 47 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100485384 100485384 + Missense_Mutation SNP A A G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 100485384 100485384 A G SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.2227 p.K743E 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 96 70 42.17 213 0 0.00 SRRT 51593 genome.wustl.edu 37 7 100486133 100486133 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100486133 100486133 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.2591 p.R864Q 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 54 9 14.29 83 0 0.00 SRSF1 6426 genome.wustl.edu 37 17 56082318 56082318 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56082318 56082318 C G SNP SRSF1 ENST00000581497 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SRSF1 HGNC ENSG00000136450 26 10 27.78 26 0 0.00 SRSF1 6426 genome.wustl.edu 37 17 56083298 56083298 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 56083298 56083298 T C SNP SRSF1 ENST00000258962 human ensembl 70_37 -1 known missense c.416 p.D139G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 22 27 55.10 21 0 0.00 SRSF1 6426 genome.wustl.edu 37 17 56084341 56084341 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 56084341 56084341 C T SNP SRSF1 ENST00000258962 human ensembl 70_37 -1 known missense c.158 p.G53E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 115 44 27.50 189 0 0.00 SRSF11 9295 genome.wustl.edu 37 1 70694277 70694277 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70694277 70694277 G A SNP SRSF11 ENST00000463877 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors SRSF11 HGNC ENSG00000116754 55 15 21.43 82 0 0.00 SRSF11 9295 genome.wustl.edu 37 1 70716118 70716120 + In_Frame_Del DEL AAG AAG - TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 70716118 70716120 AAG - DEL SRSF11 ENST00000370950 human ensembl 70_37 +1 known in_frame_del c.1189_1191 p.K400in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 25 3 10.71 45 0 0.00 SRSF12 135295 genome.wustl.edu 37 6 89808347 89808347 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89808347 89808347 A C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.736 p.F246V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 27 10 27.03 74 0 0.00 SRSF12 135295 genome.wustl.edu 37 6 89808380 89808380 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 89808380 89808380 C T SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.703 p.E235K 0.859 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 40 33 45.21 88 0 0.00 SRSF12 135295 genome.wustl.edu 37 6 89808550 89808550 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 89808550 89808550 C T SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.533 p.G178E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 29 65 69.15 74 0 0.00 SRSF12 135295 genome.wustl.edu 37 6 89808634 89808634 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 89808634 89808634 G C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.449 p.S150C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 33 11 25.00 51 0 0.00 SRSF12 135295 genome.wustl.edu 37 6 89808634 89808634 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 89808634 89808634 G C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.449 p.S150C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 41 7 14.58 59 0 0.00 SRSF2 6427 genome.wustl.edu 37 17 74732516 74732516 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74732516 74732516 C G SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known silent c.393 p.R131 0.991 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 6 11 64.71 15 0 0.00 SRSF2 6427 genome.wustl.edu 37 17 74732932 74732932 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74732932 74732932 C T SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known missense c.311 p.G104E 0.987 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 4 23 85.19 21 0 0.00 SRSF2 6427 genome.wustl.edu 37 17 74733038 74733038 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74733038 74733038 C T SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known missense c.205 p.E69K 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 61 14 18.67 54 0 0.00 SRSF2 6427 genome.wustl.edu 37 17 74733072 74733072 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74733072 74733072 G A SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known silent c.171 p.F57 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 29 24 45.28 75 0 0.00 SRSF3 6428 genome.wustl.edu 37 6 36564728 36564728 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 36564728 36564728 C T SNP SRSF3 ENST00000373715 human ensembl 70_37 +1 known silent c.189 p.V63 0.986 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC ENSG00000112081 62 7 10.14 63 0 0.00 SRSF3 6428 genome.wustl.edu 37 6 36566676 36566676 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 36566676 36566676 G T SNP SRSF3 ENST00000373715 human ensembl 70_37 +1 known missense c.257 p.R86I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC ENSG00000112081 15 9 37.50 36 0 0.00 SRSF5 6430 genome.wustl.edu 37 14 70234911 70234911 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 14 70234911 70234911 C G SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known missense c.38 p.P13R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 100 39 28.06 145 0 0.00 SRSF5 6430 genome.wustl.edu 37 14 70235906 70235906 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 70235906 70235906 C T SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known missense c.304 p.P102S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 82 33 28.70 48 0 0.00 SRSF5 6430 genome.wustl.edu 37 14 70235952 70235952 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 70235952 70235952 C G SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known nonsense c.350 p.S117* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 22 9 29.03 37 0 0.00 SRSF5 6430 genome.wustl.edu 37 14 70237973 70237973 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 70237973 70237973 G A SNP SRSF5 ENST00000394366 human ensembl 70_37 +1 novel missense c.614 p.R205H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 49 11 18.33 37 0 0.00 SRSF6 6431 genome.wustl.edu 37 20 42086761 42086761 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 42086761 42086761 G A SNP SRSF6 ENST00000244020 human ensembl 70_37 +1 known missense c.88 p.E30K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 25 7 21.88 28 0 0.00 SRSF6 6431 genome.wustl.edu 37 20 42089540 42089540 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 42089540 42089540 C G SNP SRSF6 ENST00000244020 human ensembl 70_37 +1 known nonsense c.872 p.S291* 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 28 20 41.67 30 0 0.00 SRSF8 10929 genome.wustl.edu 37 11 94801103 94801103 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 94801103 94801103 C T SNP SRSF8 ENST00000529911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC ENSG00000180771 29 7 19.44 14 0 0.00 SRSF8 10929 genome.wustl.edu 37 11 94801103 94801103 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 94801103 94801103 C T SNP SRSF8 ENST00000529911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC ENSG00000180771 31 8 20.51 34 0 0.00 SRSF9 8683 genome.wustl.edu 37 12 120899902 120899902 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 120899902 120899902 G A SNP SRSF9 ENST00000229390 human ensembl 70_37 -1 known missense c.586 p.R196W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC ENSG00000111786 46 20 30.30 65 0 0.00 SRSF9 8683 genome.wustl.edu 37 12 120903459 120903459 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 120903459 120903459 C G SNP SRSF9 ENST00000229390 human ensembl 70_37 -1 known missense c.320 p.R107T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC ENSG00000111786 42 13 23.64 41 0 0.00 SSB 6741 genome.wustl.edu 37 2 170666792 170666792 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170666792 170666792 G T SNP SSB ENST00000260956 human ensembl 70_37 +1 known splice_site c.670-1 e8-1 1.000 - - - no_errors SSB HGNC ENSG00000138385 19 13 40.62 53 0 0.00 SSBP2 23635 genome.wustl.edu 37 5 80736439 80736439 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 80736439 80736439 C A SNP SSBP2 ENST00000320672 human ensembl 70_37 -1 known missense c.866 p.G289V 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 54 9 14.29 82 0 0.00 SSBP3 23648 genome.wustl.edu 37 1 54692356 54692356 + RNA SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 54692356 54692356 A T SNP SSBP3 ENST00000326956 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors SSBP3 HGNC ENSG00000157216 62 7 10.14 29 0 0.00 SSBP3 23648 genome.wustl.edu 37 1 54871665 54871665 + Missense_Mutation SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 54871665 54871665 T C SNP SSBP3 ENST00000371320 human ensembl 70_37 -1 known missense c.17 p.K6R 1.000 NULL pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 29 4 12.12 40 0 0.00 SSBP4 170463 genome.wustl.edu 37 19 18544419 18544419 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 18544419 18544419 C G SNP SSBP4 ENST00000270061 human ensembl 70_37 +1 known missense c.1016 p.P339R 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC ENSG00000130511 9 4 30.77 12 0 0.00 SSC5D 284297 genome.wustl.edu 37 19 56028751 56028751 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56028751 56028751 G C SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.3108 p.L1036F 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 20 6 22.22 24 0 0.00 SSC5D 284297 genome.wustl.edu 37 19 56029462 56029462 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56029462 56029462 G T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known silent c.3819 p.T1273 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 145 27 15.70 129 0 0.00 SSC5D 284297 genome.wustl.edu 37 19 56029613 56029613 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 56029613 56029613 C T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.3970 p.H1324Y 0.001 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 63 9 12.50 74 0 0.00 SSC5D 284297 genome.wustl.edu 37 19 56029800 56029800 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 56029800 56029800 C T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.4157 p.S1386F 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 49 7 12.50 58 0 0.00 SSFA2 6744 genome.wustl.edu 37 2 182780221 182780221 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 182780221 182780221 C G SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.1854 p.I618M 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 19 8 29.63 19 0 0.00 SSFA2 6744 genome.wustl.edu 37 2 182780888 182780888 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 182780888 182780888 C G SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.2521 p.Q841E 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 75 38 33.33 54 0 0.00 SSFA2 6744 genome.wustl.edu 37 2 182786865 182786865 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 182786865 182786865 C T SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.3401 p.S1134L 0.085 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 29 14 32.56 30 0 0.00 SSH1 54434 genome.wustl.edu 37 12 109185927 109185927 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 109185927 109185927 G A SNP SSH1 ENST00000326470 human ensembl 70_37 -1 known silent c.2061 p.L687 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 13 23 63.89 17 0 0.00 SSH1 54434 genome.wustl.edu 37 12 109198894 109198894 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 109198894 109198894 C G SNP SSH1 ENST00000326495 human ensembl 70_37 -1 known missense c.892 p.E298Q 1.000 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 53 19 26.39 41 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27958150 27958150 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 27958150 27958150 G C SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.3981 p.L1327 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 79 10 11.24 56 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27958302 27958302 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27958302 27958302 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.3829 p.E1277K 0.017 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 78 9 10.34 88 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27959008 27959008 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 27959008 27959008 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.3123 p.L1041 0.640 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 62 12 16.22 94 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27977704 27977704 + Nonsense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 27977704 27977704 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known nonsense c.1113 p.W371* 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 27 12 30.77 39 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27977722 27977722 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27977722 27977722 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.1095 p.T365 0.053 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 108 17 13.60 126 0 0.00 SSH2 85464 genome.wustl.edu 37 17 27977792 27977792 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27977792 27977792 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.1025 p.R342Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 33 21 38.89 45 0 0.00 SSH2 85464 genome.wustl.edu 37 17 28011590 28011590 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 28011590 28011590 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.389 p.S130F 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 41 6 12.77 45 0 0.00 SSH2 85464 genome.wustl.edu 37 17 28011595 28011595 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 28011595 28011595 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.384 p.F128 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 42 7 14.29 48 0 0.00 SSH2 85464 genome.wustl.edu 37 17 28022510 28022510 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 28022510 28022510 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.243 p.F81 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 25 20 44.44 39 0 0.00 SSH3 54961 genome.wustl.edu 37 11 67072324 67072324 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 67072324 67072324 C T SNP SSH3 ENST00000308127 human ensembl 70_37 +1 known missense c.185 p.S62F 0.002 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 10 8 44.44 14 0 0.00 SSH3 54961 genome.wustl.edu 37 11 67075201 67075201 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 67075201 67075201 C T SNP SSH3 ENST00000308127 human ensembl 70_37 +1 known missense c.784 p.P262S 0.013 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 53 23 30.26 91 0 0.00 SSNA1 8636 genome.wustl.edu 37 9 140084301 140084301 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 140084301 140084301 G A SNP SSNA1 ENST00000322310 human ensembl 70_37 +1 known missense c.295 p.E99K 1.000 NULL NULL - no_errors SSNA1 HGNC ENSG00000176101 31 19 38.00 38 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149481978 149481978 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 149481978 149481978 C T SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors SSPO HGNC ENSG00000197558 11 5 31.25 31 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149485713 149485713 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149485713 149485713 G A SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SSPO HGNC ENSG00000197558 24 6 19.35 22 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149488508 149488508 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149488508 149488508 C T SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 21 9 29.03 31 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149489010 149489010 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 149489010 149489010 G A SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.128 - - - no_errors SSPO HGNC ENSG00000197558 53 9 14.52 76 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149493752 149493752 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 149493752 149493752 G T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors SSPO HGNC ENSG00000197558 35 4 10.26 36 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149494368 149494368 + RNA SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 149494368 149494368 C G SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.228 - - - no_errors SSPO HGNC ENSG00000197558 25 24 48.98 49 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149508049 149508049 + RNA SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 149508049 149508049 G A SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.862 - - - no_errors SSPO HGNC ENSG00000197558 22 9 29.03 52 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149513092 149513092 + RNA SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 7 149513092 149513092 G T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 34 4 10.53 49 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149515801 149515801 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 149515801 149515801 G A SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 24 7 21.88 44 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149516582 149516582 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 149516582 149516582 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 19 5 20.83 19 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149519678 149519678 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 149519678 149519678 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 5 7 58.33 11 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149522126 149522126 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 149522126 149522126 G A SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 27 4 12.90 24 0 0.00 SSPO 23145 genome.wustl.edu 37 7 149523307 149523307 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 149523307 149523307 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 20 16 44.44 29 0 0.00 SSR2 6746 genome.wustl.edu 37 1 155979343 155979343 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 155979343 155979343 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.540 p.T180 0.819 pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 47 6 11.32 61 0 0.00 SSR2 6746 genome.wustl.edu 37 1 155988069 155988069 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155988069 155988069 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.246 p.R82 0.960 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 41 17 29.31 49 0 0.00 SSR2 6746 genome.wustl.edu 37 1 155988144 155988144 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155988144 155988144 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.171 p.V57 1.000 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 78 16 17.02 98 0 0.00 SSR2 6746 genome.wustl.edu 37 1 155989846 155989846 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155989846 155989846 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known missense c.113 p.R38Q 0.651 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 24 19 44.19 54 0 0.00 SSR3 6747 genome.wustl.edu 37 3 156271474 156271474 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 156271474 156271474 T C SNP SSR3 ENST00000265044 human ensembl 70_37 -1 known missense c.230 p.Y77C 1.000 pfam_TRAP-gamma pfam_TRAP-gamma - no_errors SSR3 HGNC ENSG00000114850 29 25 46.30 35 0 0.00 SSR3 6747 genome.wustl.edu 37 3 156271474 156271474 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 156271474 156271474 T C SNP SSR3 ENST00000265044 human ensembl 70_37 -1 known missense c.230 p.Y77C 1.000 pfam_TRAP-gamma pfam_TRAP-gamma - no_errors SSR3 HGNC ENSG00000114850 39 22 36.07 88 0 0.00 SSR4 6748 genome.wustl.edu 37 X 153059924 153059924 + RNA SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 153059924 153059924 G C SNP SSR4 ENST00000482902 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors SSR4 HGNC ENSG00000180879 37 7 15.91 49 0 0.00 SSR4 6748 genome.wustl.edu 37 X 153061914 153061914 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 153061914 153061914 C T SNP SSR4 ENST00000320857 human ensembl 70_37 +1 known silent c.93 p.I31 1.000 pfam_TRAP-delta pfam_TRAP-delta - no_errors SSR4 HGNC ENSG00000180879 98 19 15.97 77 0 0.00 SSR4 6748 genome.wustl.edu 37 X 153063931 153063931 + RNA SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 153063931 153063931 C T SNP SSR4 ENST00000460616 human ensembl 70_37 +1 known rna NULL NULL 0.160 - - - no_errors SSR4 HGNC ENSG00000180879 53 13 19.70 59 0 0.00 SSRP1 6749 genome.wustl.edu 37 11 57099862 57099862 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 57099862 57099862 C T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.867 p.M289I 1.000 pfam_SSRP1_dom pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 21 20 48.78 59 0 0.00 SSRP1 6749 genome.wustl.edu 37 11 57100475 57100475 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57100475 57100475 G T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.495 p.F165L 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 12 13 52.00 26 0 0.00 SSRP1 6749 genome.wustl.edu 37 11 57101942 57101942 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 57101942 57101942 C T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 27 22 44.90 53 0 0.00 SST 6750 genome.wustl.edu 37 3 187388066 187388066 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 187388066 187388066 C T SNP SST ENST00000287641 human ensembl 70_37 -1 known missense c.14 p.R5H 1.000 pirsf_Somatostatin pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin - no_errors SST HGNC ENSG00000157005 32 5 13.51 27 0 0.00 SSTR5 6755 genome.wustl.edu 37 16 1129641 1129641 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 1129641 1129641 C T SNP SSTR5 ENST00000293897 human ensembl 70_37 +1 known missense c.773 p.A258V 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 95 65 40.62 158 0 0.00 SSU72 29101 genome.wustl.edu 37 1 1499997 1499997 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 1499997 1499997 C T SNP SSU72 ENST00000359060 human ensembl 70_37 -1 known missense c.380 p.R127Q 0.004 NULL pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF - no_errors SSU72 HGNC ENSG00000160075 29 5 14.29 59 0 0.00 SSUH2 51066 genome.wustl.edu 37 3 8672598 8672598 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 8672598 8672598 G A SNP SSUH2 ENST00000544814 human ensembl 70_37 -1 known missense c.418 p.P140S 0.907 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 31 15 32.61 66 0 0.00 SSUH2 51066 genome.wustl.edu 37 3 8675369 8675369 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 8675369 8675369 G A SNP SSUH2 ENST00000544814 human ensembl 70_37 -1 known missense c.322 p.R108W 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 16 3 15.79 13 0 0.00 SSX1 6756 genome.wustl.edu 37 X 48121241 48121241 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48121241 48121241 C T SNP SSX1 ENST00000376919 human ensembl 70_37 +1 known silent c.321 p.I107 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ENSG00000126752 234 52 18.06 251 0 0.00 SSX2IP 117178 genome.wustl.edu 37 1 85122058 85122058 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 85122058 85122058 C T SNP SSX2IP ENST00000342203 human ensembl 70_37 -1 known missense c.1188 p.M396I 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 28 14 33.33 57 0 0.00 SSX4B 548313 genome.wustl.edu 37 X 48269517 48269517 + Splice_Site SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 48269517 48269517 C A SNP SSX4B ENST00000376884 human ensembl 70_37 -1 known splice_site c.185-1 e3-1 0.008 - - - no_errors SSX4B HGNC ENSG00000198946 13 9 40.91 22 0 0.00 SSX4B 548313 genome.wustl.edu 37 X 48270279 48270279 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48270279 48270279 G C SNP SSX4B ENST00000376884 human ensembl 70_37 -1 known missense c.98 p.S33C 0.093 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX4B HGNC ENSG00000198946 183 31 14.49 214 1 0.47 SSX5 6758 genome.wustl.edu 37 X 48047122 48047122 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 48047122 48047122 C A SNP SSX5 ENST00000311798 human ensembl 70_37 -1 known missense c.635 p.R212I 0.003 pfam_SSXRD_motif pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 284 60 17.44 414 0 0.00 SSX5 6758 genome.wustl.edu 37 X 48047168 48047168 + Splice_Site SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 48047168 48047168 C A SNP SSX5 ENST00000311798 human ensembl 70_37 -1 known splice_site c.590-1 e7-1 0.003 - - - no_errors SSX5 HGNC ENSG00000165583 202 51 20.16 232 0 0.00 SSX7 280658 genome.wustl.edu 37 X 52681347 52681347 + Missense_Mutation SNP G G T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 52681347 52681347 G T SNP SSX7 ENST00000298181 human ensembl 70_37 -1 known missense c.235 p.L79I 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 226 59 20.56 207 0 0.00 SSX7 280658 genome.wustl.edu 37 X 52681983 52681983 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 52681983 52681983 T G SNP SSX7 ENST00000298181 human ensembl 70_37 -1 known missense c.121 p.K41Q 0.003 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 246 75 23.36 333 0 0.00 SSX9 280660 genome.wustl.edu 37 X 48159169 48159169 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 48159169 48159169 C G SNP SSX9 ENST00000376909 human ensembl 70_37 -1 known missense c.364 p.D122H 0.001 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX9 HGNC ENSG00000204648 66 31 31.96 161 0 0.00 ST13 6767 genome.wustl.edu 37 22 41226912 41226912 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41226912 41226912 C G SNP ST13 ENST00000216218 human ensembl 70_37 -1 known missense c.730 p.E244Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ENSG00000100380 76 27 26.21 106 0 0.00 ST14 6768 genome.wustl.edu 37 11 130078419 130078419 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 130078419 130078419 C T SNP ST14 ENST00000278742 human ensembl 70_37 +1 known silent c.2109 p.F703 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ST14 HGNC ENSG00000149418 16 7 30.43 33 0 0.00 ST18 9705 genome.wustl.edu 37 8 53092776 53092776 + Silent SNP G G C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 8 53092776 53092776 G C SNP ST18 ENST00000276480 human ensembl 70_37 -1 known silent c.183 p.P61 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 95 69 42.07 130 0 0.00 ST18 9705 genome.wustl.edu 37 8 53092782 53092782 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 53092782 53092782 C T SNP ST18 ENST00000276480 human ensembl 70_37 -1 known missense c.177 p.M59I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 67 40 37.04 136 1 0.73 ST18 9705 genome.wustl.edu 37 8 53126766 53126766 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 8 53126766 53126766 C G SNP ST18 ENST00000276480 human ensembl 70_37 -1 known missense c.52 p.E18Q 0.904 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 55 16 22.54 78 0 0.00 ST3GAL1 6482 genome.wustl.edu 37 8 134472011 134472011 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 134472011 134472011 C T SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known missense c.1019 p.R340K 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 40 49 55.06 88 0 0.00 ST3GAL1 6482 genome.wustl.edu 37 8 134477189 134477189 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 134477189 134477189 G A SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known missense c.515 p.A172V 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 9 6 40.00 31 0 0.00 ST3GAL1 6482 genome.wustl.edu 37 8 134488145 134488145 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 134488145 134488145 C T SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known silent c.123 p.Q41 0.681 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 47 52 52.53 95 0 0.00 ST3GAL2 6483 genome.wustl.edu 37 16 70415655 70415655 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 70415655 70415655 G A SNP ST3GAL2 ENST00000342907 human ensembl 70_37 -1 known silent c.990 p.F330 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 64 26 28.89 84 0 0.00 ST3GAL2 6483 genome.wustl.edu 37 16 70416789 70416789 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 16 70416789 70416789 G C SNP ST3GAL2 ENST00000342907 human ensembl 70_37 -1 known missense c.798 p.H266Q 0.337 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 40 18 31.03 83 0 0.00 ST3GAL3 6487 genome.wustl.edu 37 1 44386147 44386147 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 44386147 44386147 C T SNP ST3GAL3 ENST00000335430 human ensembl 70_37 +1 known missense c.581 p.S194L 1.000 NULL pfam_Glyco_trans_29 - no_errors ST3GAL3 HGNC ENSG00000126091 30 15 33.33 63 0 0.00 ST3GAL5 8869 genome.wustl.edu 37 2 86075024 86075024 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 86075024 86075024 C T SNP ST3GAL5 ENST00000377332 human ensembl 70_37 -1 known missense c.622 p.E208K 0.431 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 153 77 33.19 242 0 0.00 ST3GAL5 8869 genome.wustl.edu 37 2 86090554 86090554 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 86090554 86090554 G A SNP ST3GAL5 ENST00000377332 human ensembl 70_37 -1 known missense c.137 p.S46F 0.934 NULL pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 116 36 23.68 162 0 0.00 ST3GAL6 10402 genome.wustl.edu 37 3 98475282 98475282 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 98475282 98475282 C T SNP ST3GAL6 ENST00000465004 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ST3GAL6 HGNC ENSG00000064225 28 8 22.22 42 0 0.00 ST3GAL6 10402 genome.wustl.edu 37 3 98501744 98501744 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 98501744 98501744 C T SNP ST3GAL6 ENST00000466482 human ensembl 70_37 +1 known rna NULL NULL 0.861 - - - no_errors ST3GAL6 HGNC ENSG00000064225 43 5 10.42 63 0 0.00 ST3GAL6 10402 genome.wustl.edu 37 3 98507025 98507025 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 98507025 98507025 G T SNP ST3GAL6 ENST00000394162 human ensembl 70_37 +1 known missense c.577 p.D193Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 60 42 41.18 88 0 0.00 ST3GAL6 10402 genome.wustl.edu 37 3 98512551 98512551 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 98512551 98512551 C T SNP ST3GAL6 ENST00000394162 human ensembl 70_37 +1 known silent c.942 p.L314 0.978 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 46 7 13.21 39 0 0.00 ST5 6764 genome.wustl.edu 37 11 8718078 8718078 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 8718078 8718078 G A SNP ST5 ENST00000313726 human ensembl 70_37 -1 known missense c.3188 p.S1063F 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 29 12 28.57 46 0 0.00 ST5 6764 genome.wustl.edu 37 11 8718158 8718158 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8718158 8718158 C T SNP ST5 ENST00000313726 human ensembl 70_37 -1 known silent c.3108 p.E1036 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 59 19 24.36 59 0 0.00 ST5 6764 genome.wustl.edu 37 11 8720516 8720516 + Silent SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 8720516 8720516 C G SNP ST5 ENST00000313726 human ensembl 70_37 -1 known silent c.2904 p.L968 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 14 14 50.00 29 0 0.00 ST5 6764 genome.wustl.edu 37 11 8725068 8725068 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 8725068 8725068 G A SNP ST5 ENST00000526837 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ST5 HGNC ENSG00000166444 39 8 17.02 42 0 0.00 ST5 6764 genome.wustl.edu 37 11 8737223 8737223 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 8737223 8737223 G A SNP ST5 ENST00000313726 human ensembl 70_37 -1 known missense c.1772 p.S591F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 97 40 29.20 175 0 0.00 ST5 6764 genome.wustl.edu 37 11 8752742 8752742 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 11 8752742 8752742 G A SNP ST5 ENST00000313726 human ensembl 70_37 -1 known missense c.95 p.S32F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 54 15 21.43 96 0 0.00 ST5 6764 genome.wustl.edu 37 11 8832353 8832354 + RNA INS - - TC TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 8832353 8832354 - TC INS ST5 ENST00000531237 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors ST5 HGNC ENSG00000166444 26 5 16.13 31 0 0.00 ST6GAL1 6480 genome.wustl.edu 37 3 186760543 186760543 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 3 186760543 186760543 C T SNP ST6GAL1 ENST00000169298 human ensembl 70_37 +1 known missense c.52 p.L18F 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 26 24 48.00 56 0 0.00 ST6GAL1 6480 genome.wustl.edu 37 3 186793374 186793374 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 186793374 186793374 G A SNP ST6GAL1 ENST00000169298 human ensembl 70_37 +1 known missense c.1004 p.C335Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 28 7 20.00 18 0 0.00 ST6GAL2 84620 genome.wustl.edu 37 2 107460052 107460052 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 107460052 107460052 C T SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.382 p.D128N 0.013 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 25 26 50.98 59 0 0.00 ST6GAL2 84620 genome.wustl.edu 37 2 107460106 107460106 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 107460106 107460106 C G SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.328 p.E110Q 0.834 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 153 26 14.44 193 0 0.00 ST6GAL2 84620 genome.wustl.edu 37 2 107460390 107460390 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 107460390 107460390 C T SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.44 p.G15E 0.865 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 46 15 24.59 75 0 0.00 ST6GALNAC1 55808 genome.wustl.edu 37 17 74621487 74621487 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 74621487 74621487 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 70_37 -1 known nonsense c.1728 p.W576* 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 22 7 24.14 36 0 0.00 ST6GALNAC1 55808 genome.wustl.edu 37 17 74622103 74622103 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 74622103 74622103 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 70_37 -1 known missense c.1490 p.R497Q 0.968 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 54 17 23.94 84 0 0.00 ST6GALNAC1 55808 genome.wustl.edu 37 17 74625172 74625172 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74625172 74625172 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 70_37 -1 known silent c.753 p.L251 0.034 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 110 38 25.68 155 0 0.00 ST6GALNAC2 10610 genome.wustl.edu 37 17 74569410 74569410 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74569410 74569410 C G SNP ST6GALNAC2 ENST00000225276 human ensembl 70_37 -1 known missense c.397 p.E133Q 0.591 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 43 45 51.14 103 0 0.00 ST6GALNAC2 10610 genome.wustl.edu 37 17 74570585 74570585 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74570585 74570585 G A SNP ST6GALNAC2 ENST00000225276 human ensembl 70_37 -1 known nonsense c.223 p.Q75* 0.002 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 32 13 28.89 64 0 0.00 ST6GALNAC3 256435 genome.wustl.edu 37 1 76540566 76540566 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 76540566 76540566 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 84 30 26.32 122 0 0.00 ST6GALNAC3 256435 genome.wustl.edu 37 1 76779548 76779548 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 76779548 76779548 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.77 p.R26H 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 3 3 50.00 68 0 0.00 ST6GALNAC3 256435 genome.wustl.edu 37 1 76877784 76877784 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76877784 76877784 C T SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.305 p.S102F 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 32 17 34.69 58 0 0.00 ST6GALNAC3 256435 genome.wustl.edu 37 1 76877955 76877955 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 76877955 76877955 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.476 p.R159H 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 20 3 13.04 39 0 0.00 ST6GALNAC4 27090 genome.wustl.edu 37 9 130677140 130677141 + RNA INS - - G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 130677140 130677141 - G INS ST6GALNAC4 ENST00000483438 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.028 - - - no_errors ST6GALNAC4 HGNC ENSG00000136840 23 6 20.69 35 0 0.00 ST6GALNAC4 27090 genome.wustl.edu 37 9 130678616 130678616 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130678616 130678616 G T SNP ST6GALNAC4 ENST00000479747 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ST6GALNAC4 HGNC ENSG00000136840 27 35 56.45 54 0 0.00 ST6GALNAC5 81849 genome.wustl.edu 37 1 77528829 77528829 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 77528829 77528829 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 70_37 +1 known nonsense c.949 p.Q317* 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 24 13 34.21 34 0 0.00 ST6GALNAC6 30815 genome.wustl.edu 37 9 130649001 130649001 + Nonsense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 130649001 130649001 G T SNP ST6GALNAC6 ENST00000373142 human ensembl 70_37 -1 putative nonsense c.875 p.S292* 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 23 14 37.84 42 0 0.00 ST6GALNAC6 30815 genome.wustl.edu 37 9 130652958 130652958 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 130652958 130652958 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known missense c.662 p.R221Q 0.250 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 29 16 35.56 41 0 0.00 ST6GALNAC6 30815 genome.wustl.edu 37 9 130652973 130652973 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 130652973 130652973 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known missense c.647 p.S216F 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 46 14 23.33 48 0 0.00 ST6GALNAC6 30815 genome.wustl.edu 37 9 130653221 130653221 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 130653221 130653221 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known silent c.399 p.I133 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 13 7 35.00 13 0 0.00 ST7 7982 genome.wustl.edu 37 7 116830921 116830921 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 116830921 116830921 G A SNP ST7 ENST00000265437 human ensembl 70_37 +1 known silent c.1185 p.L395 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 11 7 38.89 28 0 0.00 ST7 7982 genome.wustl.edu 37 7 116861992 116861992 + Nonsense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 116861992 116861992 C G SNP ST7 ENST00000265437 human ensembl 70_37 +1 known nonsense c.1514 p.S505* 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 46 21 31.34 36 0 0.00 ST7 7982 genome.wustl.edu 37 7 116862962 116862962 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 116862962 116862962 G A SNP ST7 ENST00000265437 human ensembl 70_37 +1 known silent c.1686 p.K562 0.965 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 31 37 54.41 50 0 0.00 ST7-AS1 93653 genome.wustl.edu 37 7 116593810 116593810 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 116593810 116593810 C G SNP ST7-AS1 ENST00000456775 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ST7-AS1 HGNC ENSG00000227199 10 4 28.57 19 0 0.00 ST7-AS2 93654 genome.wustl.edu 37 7 116730797 116730797 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116730797 116730797 G T SNP ST7-AS2 ENST00000456577 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ST7-AS2 HGNC ENSG00000226367 51 25 32.89 63 0 0.00 ST7-OT4 338069 genome.wustl.edu 37 7 116595074 116595074 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 116595074 116595074 C G SNP ST7-OT4 ENST00000466018 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ST7-OT4 HGNC ENSG00000214188 35 4 10.26 47 0 0.00 ST7-OT4 338069 genome.wustl.edu 37 7 116595149 116595149 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 116595149 116595149 C T SNP ST7-OT4 ENST00000397750 human ensembl 70_37 +1 putative missense c.11 p.S4L 0.000 NULL NULL - no_errors ST7-OT4 HGNC ENSG00000214188 74 41 35.65 76 0 0.00 ST7-OT4 338069 genome.wustl.edu 37 7 116596563 116596563 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 116596563 116596563 G A SNP ST7-OT4 ENST00000397750 human ensembl 70_37 +1 putative silent c.156 p.Q52 0.000 NULL NULL - no_errors ST7-OT4 HGNC ENSG00000214188 18 11 37.93 48 0 0.00 ST7L 54879 genome.wustl.edu 37 1 113162416 113162416 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 113162416 113162416 C T SNP ST7L ENST00000492274 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ST7L HGNC ENSG00000007341 115 14 10.77 80 0 0.00 ST8SIA1 6489 genome.wustl.edu 37 12 22354821 22354821 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 22354821 22354821 G A SNP ST8SIA1 ENST00000396037 human ensembl 70_37 -1 known nonsense c.736 p.Q246* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 50 13 20.63 48 0 0.00 ST8SIA1 6489 genome.wustl.edu 37 12 22401946 22401946 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 22401946 22401946 C T SNP ST8SIA1 ENST00000396037 human ensembl 70_37 -1 known missense c.578 p.R193Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 36 9 20.00 79 0 0.00 ST8SIA2 8128 genome.wustl.edu 37 15 92988086 92988086 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 92988086 92988086 G T SNP ST8SIA2 ENST00000268164 human ensembl 70_37 +1 known nonsense c.769 p.E257* 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 40 31 43.66 63 0 0.00 ST8SIA3 51046 genome.wustl.edu 37 18 55020123 55020123 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 55020123 55020123 G A SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.46 p.V16I 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 31 7 18.42 21 0 0.00 ST8SIA3 51046 genome.wustl.edu 37 18 55020123 55020123 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 55020123 55020123 G A SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.46 p.V16I 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 59 9 13.24 95 0 0.00 ST8SIA3 51046 genome.wustl.edu 37 18 55024207 55024207 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 55024207 55024207 G C SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known silent c.366 p.R122 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 14 6 30.00 17 0 0.00 ST8SIA3 51046 genome.wustl.edu 37 18 55024435 55024435 + Missense_Mutation SNP A A C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 55024435 55024435 A C SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.594 p.Q198H 0.992 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 19 11 36.67 21 0 0.00 ST8SIA4 7903 genome.wustl.edu 37 5 100191850 100191850 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 100191850 100191850 G A SNP ST8SIA4 ENST00000231461 human ensembl 70_37 -1 known nonsense c.754 p.R252* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 18 8 30.77 23 0 0.00 ST8SIA4 7903 genome.wustl.edu 37 5 100231456 100231456 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 100231456 100231456 G C SNP ST8SIA4 ENST00000231461 human ensembl 70_37 -1 known silent c.147 p.V49 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 31 5 13.89 39 0 0.00 ST8SIA5 29906 genome.wustl.edu 37 18 44268784 44268784 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 18 44268784 44268784 C G SNP ST8SIA5 ENST00000315087 human ensembl 70_37 -1 known missense c.410 p.S137T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 39 17 30.36 58 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52538552 52538552 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 52538552 52538552 C G SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.1226 p.S409C 0.218 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 71 9 11.25 99 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52549439 52549439 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 52549439 52549439 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.3865 p.D1289H 0.535 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 22 10 30.30 39 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52549479 52549479 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 52549479 52549479 C G SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.3905 p.S1302C 0.465 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 34 18 33.96 54 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52552812 52552812 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 52552812 52552812 G A SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.4961 p.R1654Q 0.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 21 16 43.24 19 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52552829 52552829 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52552829 52552829 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.4978 p.E1660Q 0.605 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 19 10 34.48 9 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52553336 52553336 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52553336 52553336 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known silent c.5091 p.V1697 0.996 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 20 7 25.93 52 0 0.00 STAB1 23166 genome.wustl.edu 37 3 52553417 52553417 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52553417 52553417 G A SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known silent c.5172 p.P1724 0.000 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 35 16 31.37 70 0 0.00 STAB2 55576 genome.wustl.edu 37 12 103988265 103988265 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 103988265 103988265 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known missense c.308 p.G103D 0.977 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 43 29 40.28 26 0 0.00 STAB2 55576 genome.wustl.edu 37 12 104092950 104092950 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 104092950 104092950 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known missense c.3659 p.R1220H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 33 10 23.26 66 0 0.00 STAB2 55576 genome.wustl.edu 37 12 104131462 104131462 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 104131462 104131462 C T SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.5601 p.L1867 0.056 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 111 30 21.28 175 0 0.00 STAB2 55576 genome.wustl.edu 37 12 104140424 104140424 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 104140424 104140424 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.6186 p.K2062 0.981 smart_EGF_laminin,smart_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 59 44 42.72 119 0 0.00 STAB2 55576 genome.wustl.edu 37 12 104151983 104151983 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104151983 104151983 C T SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.7023 p.G2341 0.362 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 37 24 39.34 74 0 0.00 STAC 6769 genome.wustl.edu 37 3 36534667 36534667 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 36534667 36534667 G A SNP STAC ENST00000273183 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 50 22 30.56 48 0 0.00 STAC2 342667 genome.wustl.edu 37 17 37368565 37368565 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 37368565 37368565 C G SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known missense c.1216 p.D406H 0.997 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 13 6 31.58 25 0 0.00 STAC2 342667 genome.wustl.edu 37 17 37369376 37369376 + Missense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 17 37369376 37369376 C A SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known missense c.1003 p.G335C 0.993 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 13 17 56.67 34 0 0.00 STAC2 342667 genome.wustl.edu 37 17 37370527 37370527 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 37370527 37370527 G C SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known silent c.900 p.L300 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 28 6 17.65 47 0 0.00 STAC2 342667 genome.wustl.edu 37 17 37371404 37371404 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 37371404 37371404 G T SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known missense c.666 p.F222L 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 14 6 30.00 23 0 0.00 STAG1 10274 genome.wustl.edu 37 3 136141690 136141690 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 136141690 136141690 C T SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.1753 p.D585N 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 50 17 25.37 54 0 0.00 STAG1 10274 genome.wustl.edu 37 3 136196132 136196132 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 136196132 136196132 C A SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.1025 p.R342M 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 33 14 29.79 46 0 0.00 STAG1 10274 genome.wustl.edu 37 3 136305745 136305745 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 136305745 136305745 G C SNP STAG1 ENST00000487065 human ensembl 70_37 -1 known missense c.321 p.H107Q 0.000 NULL NULL - no_errors STAG1 HGNC ENSG00000118007 22 34 60.71 38 0 0.00 STAG1 10274 genome.wustl.edu 37 3 136323236 136323236 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 136323236 136323236 C G SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.212 p.R71T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 75 15 16.67 48 0 0.00 STAG2 10735 genome.wustl.edu 37 X 123095675 123095675 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 123095675 123095675 G C SNP STAG2 ENST00000466748 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors STAG2 HGNC ENSG00000101972 11 48 81.36 94 0 0.00 STAG2 10735 genome.wustl.edu 37 X 123164963 123164963 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 123164963 123164963 G C SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.276 p.K92N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 304 60 16.44 316 0 0.00 STAG2 10735 genome.wustl.edu 37 X 123184049 123184049 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 123184049 123184049 G A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.907 p.E303K 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 134 17 11.26 136 0 0.00 STAG2 10735 genome.wustl.edu 37 X 123195682 123195682 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 123195682 123195682 G A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known silent c.1596 p.A532 0.963 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 106 24 18.46 97 0 0.00 STAG2 10735 genome.wustl.edu 37 X 123229269 123229269 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123229269 123229269 C A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.3753 p.F1251L 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 19 18 48.65 66 0 0.00 STAG3 10734 genome.wustl.edu 37 7 99780363 99780363 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 99780363 99780363 G C SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known missense c.237 p.K79N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 26 35 57.38 159 0 0.00 STAG3 10734 genome.wustl.edu 37 7 99786601 99786601 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99786601 99786601 C G SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known nonsense c.677 p.S226* 1.000 pfam_STAG pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 64 23 26.44 79 0 0.00 STAG3 10734 genome.wustl.edu 37 7 99795228 99795228 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 99795228 99795228 G T SNP STAG3 ENST00000440830 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3 HGNC ENSG00000066923 33 5 13.16 31 0 0.00 STAG3 10734 genome.wustl.edu 37 7 99799930 99799930 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 99799930 99799930 C A SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known missense c.2530 p.H844N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 103 16 13.33 132 1 0.75 STAG3L4 64940 genome.wustl.edu 37 7 66774620 66774620 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 66774620 66774620 G A SNP STAG3L4 ENST00000416602 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors STAG3L4 HGNC ENSG00000106610 55 18 24.66 91 0 0.00 STAG3L4 64940 genome.wustl.edu 37 7 66785110 66785110 + RNA SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 66785110 66785110 C T SNP STAG3L4 ENST00000416602 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors STAG3L4 HGNC ENSG00000106610 37 20 35.09 35 0 0.00 STAM 8027 genome.wustl.edu 37 10 17738856 17738856 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 17738856 17738856 G A SNP STAM ENST00000377524 human ensembl 70_37 +1 known missense c.811 p.E271K 1.000 superfamily_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 14 10 41.67 33 0 0.00 STAM 8027 genome.wustl.edu 37 10 17750872 17750872 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 17750872 17750872 C G SNP STAM ENST00000377524 human ensembl 70_37 +1 known missense c.1307 p.S436C 0.996 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 41 20 32.79 40 0 0.00 STAM2 10254 genome.wustl.edu 37 2 153001276 153001276 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 153001276 153001276 C G SNP STAM2 ENST00000465460 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors STAM2 HGNC ENSG00000115145 8 5 38.46 19 0 0.00 STAM2 10254 genome.wustl.edu 37 2 153004816 153004817 + Splice_Site INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 153004816 153004817 - A INS STAM2 ENST00000263904 human ensembl 70_37 -1 known splice_site_ins c.126-3_126-2 e3-2 1.000:0.002 - - - no_errors STAM2 HGNC ENSG00000115145 31 4 11.43 33 0 0.00 STAM2 10254 genome.wustl.edu 37 2 153004816 153004817 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 153004816 153004817 - A INS STAM2 ENST00000263904 human ensembl 70_37 -1 known splice_site_ins c.126-3_126-2 e3-2 1.000:0.002 - - - no_errors STAM2 HGNC ENSG00000115145 21 4 16.00 36 0 0.00 STAMBP 10617 genome.wustl.edu 37 2 74077619 74077619 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 74077619 74077619 C T SNP STAMBP ENST00000339566 human ensembl 70_37 +1 known silent c.984 p.L328 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBP HGNC ENSG00000124356 41 18 30.51 69 0 0.00 STAMBPL1 57559 genome.wustl.edu 37 10 90668531 90668531 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 90668531 90668531 G C SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known missense c.321 p.M107I 0.996 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC ENSG00000138134 87 10 10.31 74 0 0.00 STAMBPL1 57559 genome.wustl.edu 37 10 90673020 90673020 + Nonsense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 90673020 90673020 C T SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known nonsense c.583 p.R195* 0.765 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC ENSG00000138134 5 3 37.50 21 0 0.00 STAMBPL1 57559 genome.wustl.edu 37 10 90733048 90733048 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 90733048 90733048 C T SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known missense c.1364 p.S455L 0.019 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC ENSG00000138134 37 7 15.91 40 0 0.00 STAMBPL1 57559 genome.wustl.edu 37 10 90733069 90733069 + Nonstop_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 90733069 90733069 G C SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known nonstop c.1385 p.*462S 0.001 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC ENSG00000138134 8 11 57.89 33 0 0.00 STAP1 26228 genome.wustl.edu 37 4 68447142 68447142 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 68447142 68447142 G C SNP STAP1 ENST00000265404 human ensembl 70_37 +1 known missense c.483 p.E161D 0.973 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 53 31 36.90 50 0 0.00 STAP1 26228 genome.wustl.edu 37 4 68456646 68456646 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68456646 68456646 A C SNP STAP1 ENST00000265404 human ensembl 70_37 +1 known missense c.704 p.N235T 0.966 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 16 7 30.43 28 0 0.00 STAP2 55620 genome.wustl.edu 37 19 4324496 4324496 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 4324496 4324496 C T SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.1241 p.R414K 0.738 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 16 8 33.33 49 0 0.00 STAP2 55620 genome.wustl.edu 37 19 4327333 4327333 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 4327333 4327333 C T SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.640 p.V214M 0.771 pfscan_SH2 pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 43 16 27.12 57 0 0.00 STAP2 55620 genome.wustl.edu 37 19 4328763 4328763 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4328763 4328763 C G SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.499 p.E167Q 1.000 pfscan_SH2 pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 9 37 80.43 56 0 0.00 STAR 6770 genome.wustl.edu 37 8 38003905 38003905 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 38003905 38003905 C G SNP STAR ENST00000276449 human ensembl 70_37 -1 known missense c.367 p.E123Q 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STAR HGNC ENSG00000147465 30 11 26.83 40 0 0.00 STARD10 10809 genome.wustl.edu 37 11 72470394 72470394 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 72470394 72470394 C G SNP STARD10 ENST00000334805 human ensembl 70_37 -1 known missense c.240 p.E80D 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC ENSG00000214530 18 7 28.00 50 0 0.00 STARD10 10809 genome.wustl.edu 37 11 72492047 72492047 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 72492047 72492047 C T SNP STARD10 ENST00000334805 human ensembl 70_37 -1 known silent c.180 p.E60 0.990 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC ENSG00000214530 34 19 35.85 29 0 0.00 STARD13 90627 genome.wustl.edu 37 13 33701650 33701650 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 33701650 33701650 G T SNP STARD13 ENST00000336934 human ensembl 70_37 -1 known missense c.1782 p.H594Q 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 36 4 10.00 30 0 0.00 STARD13 90627 genome.wustl.edu 37 13 33703335 33703335 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 33703335 33703335 G C SNP STARD13 ENST00000336934 human ensembl 70_37 -1 known silent c.1479 p.V493 0.995 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 16 10 37.04 35 0 0.00 STARD13-AS 100874241 genome.wustl.edu 37 13 33854108 33854109 + RNA INS - - A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 13 33854108 33854109 - A INS STARD13-AS2 ENST00000585861 human ensembl 70_37 +1 known rna NULL NULL 0.161:0.041 - - - no_errors STARD13-AS2 HGNC ENSG00000236581 52 21 28.77 29 0 0.00 STARD13-IT1 100874373 genome.wustl.edu 37 13 33738477 33738477 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 33738477 33738477 G T SNP STARD13-IT1 ENST00000456087 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STARD13-IT1 HGNC ENSG00000230300 25 3 10.71 30 0 0.00 STARD3 10948 genome.wustl.edu 37 17 37815315 37815315 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37815315 37815315 G A SNP STARD3 ENST00000336308 human ensembl 70_37 +1 known missense c.658 p.E220K 1.000 NULL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 45 15 25.00 36 0 0.00 STARD3 10948 genome.wustl.edu 37 17 37819218 37819218 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 17 37819218 37819218 G A SNP STARD3 ENST00000580611 human ensembl 70_37 +1 novel missense c.1340 p.R447K 0.015 NULL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 13 3 18.75 17 0 0.00 STARD4 134429 genome.wustl.edu 37 5 110835787 110835787 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 110835787 110835787 C G SNP STARD4 ENST00000296632 human ensembl 70_37 -1 known missense c.415 p.D139H 0.996 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD4 HGNC ENSG00000164211 77 19 19.79 115 0 0.00 STARD5 80765 genome.wustl.edu 37 15 81605714 81605714 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81605714 81605714 G C SNP STARD5 ENST00000302824 human ensembl 70_37 -1 known missense c.525 p.F175L 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD5 HGNC ENSG00000172345 151 46 23.35 83 0 0.00 STARD5 80765 genome.wustl.edu 37 15 81611704 81611704 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 81611704 81611704 C T SNP STARD5 ENST00000302824 human ensembl 70_37 -1 known missense c.376 p.E126K 0.976 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD5 HGNC ENSG00000172345 73 25 25.51 49 0 0.00 STARD6 147323 genome.wustl.edu 37 18 51851221 51851221 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 18 51851221 51851221 C T SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known silent c.504 p.V168 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC ENSG00000174448 15 9 37.50 44 0 0.00 STARD6 147323 genome.wustl.edu 37 18 51858190 51858190 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 18 51858190 51858190 C T SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known missense c.307 p.V103M 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC ENSG00000174448 50 17 25.37 56 0 0.00 STARD6 147323 genome.wustl.edu 37 18 51863617 51863617 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51863617 51863617 G A SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known missense c.145 p.R49C 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC ENSG00000174448 30 17 36.17 41 0 0.00 STARD7 56910 genome.wustl.edu 37 2 96852484 96852484 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 96852484 96852484 C A SNP STARD7 ENST00000337288 human ensembl 70_37 -1 known missense c.1097 p.R366L 0.762 NULL pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD7 HGNC ENSG00000084090 34 17 33.33 68 0 0.00 STARD8 9754 genome.wustl.edu 37 X 67940224 67940224 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 67940224 67940224 C T SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known nonsense c.2008 p.Q670* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 60 47 43.93 90 0 0.00 STARD8 9754 genome.wustl.edu 37 X 67941568 67941568 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 67941568 67941568 G C SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known missense c.2439 p.K813N 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 55 13 19.12 51 0 0.00 STARD8 9754 genome.wustl.edu 37 X 67943510 67943510 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67943510 67943510 G T SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known nonsense c.2842 p.E948* 0.992 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 21 3 12.50 33 0 0.00 STARD8 9754 genome.wustl.edu 37 X 67943675 67943675 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67943675 67943675 G C SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known missense c.3007 p.V1003L 0.533 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 52 14 21.21 103 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42930937 42930937 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 42930937 42930937 G A SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known silent c.486 p.L162 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 13 16 55.17 26 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42944743 42944743 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42944743 42944743 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.655 p.E219Q 0.993 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 63 34 34.69 104 1 0.95 STARD9 57519 genome.wustl.edu 37 15 42976720 42976720 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42976720 42976720 G T SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.2944 p.D982Y 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 15 6 28.57 34 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42982596 42982596 + Silent SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 42982596 42982596 C G SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known silent c.8820 p.L2940 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 26 7 21.21 26 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42983444 42983444 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42983444 42983444 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.9668 p.G3223A 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 50 18 26.47 75 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42983559 42983559 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42983559 42983559 G T SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.9783 p.K3261N 0.021 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 14 7 33.33 42 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42985060 42985060 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 42985060 42985060 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.11284 p.E3762Q 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 9 24 72.73 40 0 0.00 STARD9 57519 genome.wustl.edu 37 15 42987423 42987423 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 42987423 42987423 G A SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.13048 p.A4350T 1.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 34 9 20.45 27 0 0.00 STAT1 6772 genome.wustl.edu 37 2 191841666 191841666 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 191841666 191841666 G A SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known silent c.1959 p.V653 1.000 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 25 9 26.47 50 0 0.00 STAT1 6772 genome.wustl.edu 37 2 191841680 191841680 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 191841680 191841680 G A SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known missense c.1945 p.R649C 1.000 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 27 11 28.95 59 0 0.00 STAT1 6772 genome.wustl.edu 37 2 191855956 191855956 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 191855956 191855956 C G SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known missense c.1035 p.L345F 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 55 9 14.06 65 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56737278 56737278 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56737278 56737278 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.2451 p.P817 0.009 pfam_STAT2_C pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 48 14 22.58 28 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56737674 56737674 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56737674 56737674 G A SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.2348 p.S783L 0.000 pfam_STAT2_C pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 44 25 36.23 74 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56737713 56737713 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 12 56737713 56737713 A G SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.2309 p.V770A 0.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 38 14 26.92 48 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56740733 56740733 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56740733 56740733 G A SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.1731 p.I577 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 3 14 82.35 22 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56744663 56744663 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 56744663 56744663 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.1044 p.V348 0.993 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 10 3 23.08 22 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56745189 56745189 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 56745189 56745189 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.828 p.L276 0.997 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 18 8 30.77 40 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56748582 56748582 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 56748582 56748582 C G SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.613 p.E205Q 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 58 8 12.12 84 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56748604 56748604 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 56748604 56748604 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.591 p.K197 0.008 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 61 29 32.22 63 0 0.00 STAT2 6773 genome.wustl.edu 37 12 56749109 56749109 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 56749109 56749109 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.498 p.L166 0.996 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 47 16 25.40 40 0 0.00 STAT3 6774 genome.wustl.edu 37 17 40467764 40467764 + Nonstop_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 40467764 40467764 C G SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known nonstop c.2312 p.*771S 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 50 24 32.43 71 0 0.00 STAT3 6774 genome.wustl.edu 37 17 40475064 40475064 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 40475064 40475064 C T SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known missense c.1846 p.E616K 1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 183 29 13.68 190 0 0.00 STAT3 6774 genome.wustl.edu 37 17 40500481 40500481 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40500481 40500481 G C SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known silent c.54 p.L18 0.010 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 25 11 30.56 43 0 0.00 STAT3 6774 genome.wustl.edu 37 17 40500481 40500481 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 40500481 40500481 G C SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known silent c.54 p.L18 0.010 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 24 4 14.29 56 0 0.00 STAT4 6775 genome.wustl.edu 37 2 191922751 191922751 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 191922751 191922751 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known missense c.1199 p.R400Q 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 10 4 28.57 17 0 0.00 STAT4 6775 genome.wustl.edu 37 2 191922763 191922763 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 191922763 191922763 G C SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known nonsense c.1187 p.S396* 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 5 4 44.44 11 0 0.00 STAT4 6775 genome.wustl.edu 37 2 191929649 191929649 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 191929649 191929649 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known silent c.666 p.E222 0.961 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 37 28 43.08 54 0 0.00 STAT4 6775 genome.wustl.edu 37 2 191931242 191931242 + Splice_Site SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 191931242 191931242 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known splice_site c.545-1 e6-1 1.000 - - - no_errors STAT4 HGNC ENSG00000138378 29 4 12.12 22 0 0.00 STAT4 6775 genome.wustl.edu 37 2 191996589 191996589 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 191996589 191996589 C T SNP STAT4 ENST00000409995 human ensembl 70_37 -1 putative missense c.311 p.R104Q 0.000 NULL pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction - no_errors STAT4 HGNC ENSG00000138378 36 19 34.55 72 0 0.00 STAT5A 6776 genome.wustl.edu 37 17 40441935 40441935 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 40441935 40441935 C G SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known silent c.180 p.L60 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 24 11 31.43 36 0 0.00 STAT5A 6776 genome.wustl.edu 37 17 40452767 40452767 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 17 40452767 40452767 C T SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known missense c.868 p.R290W 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 11 9 45.00 37 0 0.00 STAT5A 6776 genome.wustl.edu 37 17 40453318 40453318 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 40453318 40453318 C T SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known missense c.1015 p.P339S 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 40 17 29.82 66 0 0.00 STAT5B 6777 genome.wustl.edu 37 17 40353804 40353804 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 40353804 40353804 G A SNP STAT5B ENST00000293328 human ensembl 70_37 -1 known silent c.2316 p.L772 0.875 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 70 18 20.45 36 0 0.00 STAT5B 6777 genome.wustl.edu 37 17 40362483 40362483 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 40362483 40362483 C A SNP STAT5B ENST00000293328 human ensembl 70_37 -1 known missense c.1713 p.W571C 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 4 4 50.00 26 0 0.00 STAT6 6778 genome.wustl.edu 37 12 57490477 57490477 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 57490477 57490477 C T SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known missense c.2422 p.E808K 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 30 21 41.18 33 0 0.00 STAT6 6778 genome.wustl.edu 37 12 57492635 57492635 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57492635 57492635 G C SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known missense c.2006 p.S669C 0.975 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 80 31 27.68 71 0 0.00 STAT6 6778 genome.wustl.edu 37 12 57493155 57493155 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57493155 57493155 G A SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known nonsense c.1813 p.R605* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 27 10 27.03 26 0 0.00 STAU2 27067 genome.wustl.edu 37 8 74333613 74333613 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 74333613 74333613 G C SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known silent c.1707 p.A569 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC ENSG00000040341 96 13 11.93 43 0 0.00 STAU2 27067 genome.wustl.edu 37 8 74333628 74333628 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 74333628 74333628 C A SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known missense c.1692 p.K564N 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC ENSG00000040341 39 10 20.41 64 0 0.00 STAU2 27067 genome.wustl.edu 37 8 74464260 74464260 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 74464260 74464260 A G SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known missense c.1517 p.I506T 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC ENSG00000040341 25 15 37.50 50 0 0.00 STC1 6781 genome.wustl.edu 37 8 23702481 23702481 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 23702481 23702481 C T SNP STC1 ENST00000290271 human ensembl 70_37 -1 known silent c.546 p.L182 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 50 20 28.57 93 0 0.00 STC2 8614 genome.wustl.edu 37 5 172745253 172745253 + Splice_Site SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 172745253 172745253 C A SNP STC2 ENST00000265087 human ensembl 70_37 -1 known splice_site c.507-1 e4-1 1.000 - - - no_errors STC2 HGNC ENSG00000113739 8 10 55.56 15 0 0.00 STC2 8614 genome.wustl.edu 37 5 172755130 172755130 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 172755130 172755130 G A SNP STC2 ENST00000265087 human ensembl 70_37 -1 known missense c.67 p.R23W 0.191 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 59 50 45.87 66 0 0.00 STEAP1B 256227 genome.wustl.edu 37 7 22532205 22532205 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 22532205 22532205 C T SNP STEAP1B ENST00000406890 human ensembl 70_37 -1 known nonsense c.684 p.W228* 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 47 39 45.35 71 0 0.00 STEAP1B 256227 genome.wustl.edu 37 7 22532284 22532284 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 22532284 22532284 G A SNP STEAP1B ENST00000406890 human ensembl 70_37 -1 known missense c.605 p.S202F 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 57 34 37.36 133 0 0.00 STEAP2-AS1 100874100 genome.wustl.edu 37 7 89840798 89840798 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89840798 89840798 C T SNP STEAP2-AS1 ENST00000478318 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STEAP2-AS1 HGNC ENSG00000227646 4 4 50.00 11 0 0.00 STEAP4 79689 genome.wustl.edu 37 7 87912107 87912107 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 87912107 87912107 C T SNP STEAP4 ENST00000380079 human ensembl 70_37 -1 known missense c.833 p.R278Q 0.997 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP4 HGNC ENSG00000127954 59 8 11.94 68 0 0.00 STIL 6491 genome.wustl.edu 37 1 47726194 47726194 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 47726194 47726194 T A SNP STIL ENST00000371877 human ensembl 70_37 -1 known silent c.2847 p.L949 0.165 NULL NULL - no_errors STIL HGNC ENSG00000123473 72 16 18.18 86 0 0.00 STIL 6491 genome.wustl.edu 37 1 47748081 47748081 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 47748081 47748081 G C SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 151 32 17.49 195 0 0.00 STIL 6491 genome.wustl.edu 37 1 47748081 47748081 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 47748081 47748081 G C SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 50 10 16.67 30 0 0.00 STIL 6491 genome.wustl.edu 37 1 47753326 47753326 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 47753326 47753326 C A SNP STIL ENST00000371877 human ensembl 70_37 -1 known nonsense c.1030 p.E344* 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 18 21 53.85 31 0 0.00 STIL 6491 genome.wustl.edu 37 1 47765776 47765776 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 47765776 47765776 G T SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.502 p.L168M 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 69 11 13.75 51 0 0.00 STIM2 57620 genome.wustl.edu 37 4 27009185 27009185 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 27009185 27009185 G T SNP STIM2 ENST00000382009 human ensembl 70_37 +1 known nonsense c.1273 p.E425* 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 14 4 22.22 26 0 0.00 STIM2 57620 genome.wustl.edu 37 4 27019575 27019575 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 27019575 27019575 G C SNP STIM2 ENST00000382009 human ensembl 70_37 +1 known missense c.2017 p.E673Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 75 39 34.21 84 0 0.00 STIP1 10963 genome.wustl.edu 37 11 63960623 63960623 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 63960623 63960623 C G SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.83 p.S28C 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 38 27 41.54 35 0 0.00 STIP1 10963 genome.wustl.edu 37 11 63961973 63961973 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63961973 63961973 C G SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.384 p.F128L 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 46 10 17.86 55 0 0.00 STIP1 10963 genome.wustl.edu 37 11 63963265 63963265 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 63963265 63963265 C T SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.652 p.L218F 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 21 9 30.00 20 0 0.00 STK10 6793 genome.wustl.edu 37 5 171481675 171481675 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 171481675 171481675 C A SNP STK10 ENST00000176763 human ensembl 70_37 -1 known missense c.2550 p.R850S 1.000 pfam_PKK pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 103 141 57.79 473 0 0.00 STK10 6793 genome.wustl.edu 37 5 171491807 171491807 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 171491807 171491807 C T SNP STK10 ENST00000176763 human ensembl 70_37 -1 known missense c.1999 p.E667K 0.747 pfam_PKK pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 19 3 13.64 22 0 0.00 STK10 6793 genome.wustl.edu 37 5 171533901 171533902 + RNA INS - - GG TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 171533901 171533902 - GG INS STK10 ENST00000517381 human ensembl 70_37 -1 putative rna NULL NULL 0.004:0.000 - - - no_errors STK10 HGNC ENSG00000072786 8 5 38.46 22 0 0.00 STK10 6793 genome.wustl.edu 37 5 171544618 171544618 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 171544618 171544618 G A SNP STK10 ENST00000176763 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 51 10 16.39 73 0 0.00 STK10 6793 genome.wustl.edu 37 5 171614915 171614915 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 171614915 171614915 G A SNP STK10 ENST00000176763 human ensembl 70_37 -1 known silent c.132 p.D44 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 38 38 49.35 72 0 0.00 STK11 6794 genome.wustl.edu 37 19 1207060 1207061 + Frame_Shift_Ins INS - - TGATGGGG TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1207060 1207061 - TGATGGGG INS STK11 ENST00000326873 human ensembl 70_37 +1 known frame_shift_ins c.148_149 p.D53fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 19 9 32.14 56 0 0.00 STK11 6794 genome.wustl.edu 37 19 1207152 1207152 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 1207152 1207152 C G SNP STK11 ENST00000326873 human ensembl 70_37 +1 known silent c.240 p.L80 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 11 3 21.43 25 0 0.00 STK11 6794 genome.wustl.edu 37 19 1218457 1218457 + Missense_Mutation SNP T T A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1218457 1218457 T A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.332 p.I111N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 15 15 50.00 72 0 0.00 STK11 6794 genome.wustl.edu 37 19 1218458 1218458 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1218458 1218458 C T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known silent c.333 p.I111 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 16 15 48.39 72 0 0.00 STK11 6794 genome.wustl.edu 37 19 1220433 1220433 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1220433 1220433 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.526 p.D176N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 43 10 18.87 67 0 0.00 STK11 6794 genome.wustl.edu 37 19 1220443 1220443 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 1220443 1220443 C A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.536 p.P179Q 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 34 33 49.25 76 0 0.00 STK11 6794 genome.wustl.edu 37 19 1221966 1221966 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1221966 1221966 C T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.881 p.P294L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 39 33 45.83 127 0 0.00 STK11 6794 genome.wustl.edu 37 19 1223012 1223012 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223012 1223012 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.949 p.E317K 0.985 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 32 10 23.81 54 0 0.00 STK11 6794 genome.wustl.edu 37 19 1223135 1223135 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223135 1223135 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.1072 p.D358N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 26 14 35.00 49 0 0.00 STK11 6794 genome.wustl.edu 37 19 1223138 1223138 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223138 1223138 G T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.1075 p.D359Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC ENSG00000118046 24 14 36.84 51 0 0.00 STK11IP 114790 genome.wustl.edu 37 2 220473076 220473076 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 220473076 220473076 G T SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1527 p.E509D 0.041 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 14 6 30.00 18 0 0.00 STK11IP 114790 genome.wustl.edu 37 2 220473122 220473122 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 220473122 220473122 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1573 p.E525K 0.998 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 8 9 52.94 25 0 0.00 STK11IP 114790 genome.wustl.edu 37 2 220473457 220473457 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 220473457 220473457 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1756 p.E586K 0.648 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 24 8 25.00 37 0 0.00 STK11IP 114790 genome.wustl.edu 37 2 220479926 220479926 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 220479926 220479926 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.2980 p.E994K 0.872 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 39 15 27.78 62 0 0.00 STK16 8576 genome.wustl.edu 37 2 220110704 220110704 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 220110704 220110704 G A SNP STK16 ENST00000486813 human ensembl 70_37 +1 putative rna NULL NULL 0.997 - - - no_errors STK16 HGNC ENSG00000115661 29 6 17.14 24 0 0.00 STK16 8576 genome.wustl.edu 37 2 220112958 220112958 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 220112958 220112958 C T SNP STK16 ENST00000396738 human ensembl 70_37 +1 known missense c.701 p.P234L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK16 HGNC ENSG00000115661 52 21 28.77 83 0 0.00 STK17A 9263 genome.wustl.edu 37 7 43663453 43663453 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 43663453 43663453 G A SNP STK17A ENST00000319357 human ensembl 70_37 +1 known missense c.886 p.D296N 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK17A HGNC ENSG00000164543 4 3 42.86 11 0 0.00 STK17B 9262 genome.wustl.edu 37 2 197004445 197004445 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 197004445 197004445 G A SNP STK17B ENST00000263955 human ensembl 70_37 -1 known silent c.735 p.L245 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK17B HGNC ENSG00000081320 70 17 19.54 123 0 0.00 STK3 6788 genome.wustl.edu 37 8 99718742 99718742 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 99718742 99718742 C G SNP STK3 ENST00000419617 human ensembl 70_37 -1 known missense c.637 p.E213Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK3 HGNC ENSG00000104375 16 11 40.74 39 0 0.00 STK3 6788 genome.wustl.edu 37 8 99719434 99719434 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 99719434 99719434 G A SNP STK3 ENST00000419617 human ensembl 70_37 -1 known missense c.457 p.L153F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK3 HGNC ENSG00000104375 20 34 62.96 33 0 0.00 STK31 56164 genome.wustl.edu 37 7 23768836 23768836 + Missense_Mutation SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 7 23768836 23768836 C T SNP STK31 ENST00000355870 human ensembl 70_37 +1 known missense c.451 p.P151S 1.000 NULL pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 59 39 39.80 91 0 0.00 STK31 56164 genome.wustl.edu 37 7 23826166 23826166 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 23826166 23826166 G A SNP STK31 ENST00000355870 human ensembl 70_37 +1 known missense c.2314 p.E772K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 30 20 40.00 56 0 0.00 STK32A 202374 genome.wustl.edu 37 5 146703593 146703593 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 146703593 146703593 C A SNP STK32A ENST00000397936 human ensembl 70_37 +1 known silent c.393 p.V131 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32A HGNC ENSG00000169302 28 5 15.15 39 0 0.00 STK32A 202374 genome.wustl.edu 37 5 146722798 146722798 + Silent SNP T T A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 146722798 146722798 T A SNP STK32A ENST00000398521 human ensembl 70_37 +1 known silent c.489 p.L163 0.009 smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32A HGNC ENSG00000169302 24 10 29.41 39 0 0.00 STK32B 55351 genome.wustl.edu 37 4 5458578 5458578 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5458578 5458578 C T SNP STK32B ENST00000282908 human ensembl 70_37 +1 known silent c.711 p.L237 0.973 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC ENSG00000152953 36 13 26.53 50 0 0.00 STK32B 55351 genome.wustl.edu 37 4 5458637 5458637 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 5458637 5458637 C G SNP STK32B ENST00000282908 human ensembl 70_37 +1 known missense c.770 p.A257G 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC ENSG00000152953 42 11 20.75 26 0 0.00 STK32B 55351 genome.wustl.edu 37 4 5500722 5500722 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5500722 5500722 G A SNP STK32B ENST00000282908 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.033 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC ENSG00000152953 31 15 32.61 57 0 0.00 STK33 65975 genome.wustl.edu 37 11 8414079 8414079 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 8414079 8414079 G A SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.1523 p.S508F 0.147 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC ENSG00000130413 71 28 28.28 134 0 0.00 STK33 65975 genome.wustl.edu 37 11 8462277 8462277 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 8462277 8462277 C T SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.895 p.D299N 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC ENSG00000130413 24 15 38.46 53 0 0.00 STK33 65975 genome.wustl.edu 37 11 8494730 8494730 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 8494730 8494730 C G SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.319 p.E107Q 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC ENSG00000130413 207 50 19.46 255 0 0.00 STK35 140901 genome.wustl.edu 37 20 2097345 2097345 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2097345 2097345 G A SNP STK35 ENST00000381482 human ensembl 70_37 +1 known missense c.926 p.C309Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK35 HGNC ENSG00000125834 24 22 47.83 20 0 0.00 STK36 27148 genome.wustl.edu 37 2 219553557 219553557 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219553557 219553557 G A SNP STK36 ENST00000295709 human ensembl 70_37 +1 known silent c.1518 p.L506 0.006 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK36 HGNC ENSG00000163482 22 30 56.60 39 0 0.00 STK36 27148 genome.wustl.edu 37 2 219563736 219563736 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219563736 219563736 C T SNP STK36 ENST00000295709 human ensembl 70_37 +1 known silent c.3469 p.L1157 0.986 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK36 HGNC ENSG00000163482 31 4 11.43 12 0 0.00 STK36 27148 genome.wustl.edu 37 2 219566632 219566632 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219566632 219566632 C G SNP STK36 ENST00000295709 human ensembl 70_37 +1 known missense c.3848 p.S1283C 0.158 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK36 HGNC ENSG00000163482 105 37 26.06 135 0 0.00 STK38 11329 genome.wustl.edu 37 6 36475283 36475283 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 36475283 36475283 C T SNP STK38 ENST00000229812 human ensembl 70_37 -1 known missense c.766 p.D256N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC ENSG00000112079 41 36 46.75 53 0 0.00 STK38 11329 genome.wustl.edu 37 6 36483145 36483145 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 36483145 36483145 G C SNP STK38 ENST00000229812 human ensembl 70_37 -1 known missense c.639 p.I213M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC ENSG00000112079 37 32 46.38 72 0 0.00 STK38 11329 genome.wustl.edu 37 6 36483160 36483160 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 36483160 36483160 G A SNP STK38 ENST00000229812 human ensembl 70_37 -1 known silent c.624 p.F208 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC ENSG00000112079 40 17 29.82 60 0 0.00 STK38L 23012 genome.wustl.edu 37 12 27467972 27467972 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 27467972 27467972 G C SNP STK38L ENST00000389032 human ensembl 70_37 +1 known missense c.697 p.G233R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC ENSG00000211455 22 26 54.17 46 0 0.00 STK38L 23012 genome.wustl.edu 37 12 27475354 27475354 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 27475354 27475354 C T SNP STK38L ENST00000389032 human ensembl 70_37 +1 known missense c.1361 p.S454F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC ENSG00000211455 27 16 37.21 19 0 0.00 STK39 27347 genome.wustl.edu 37 2 168811454 168811454 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 168811454 168811454 G C SNP STK39 ENST00000487143 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STK39 HGNC ENSG00000198648 35 21 37.50 77 0 0.00 STK39 27347 genome.wustl.edu 37 2 168811667 168811667 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 168811667 168811667 G A SNP STK39 ENST00000487143 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STK39 HGNC ENSG00000198648 34 22 39.29 21 0 0.00 STK39 27347 genome.wustl.edu 37 2 169023878 169023878 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 169023878 169023878 C A SNP STK39 ENST00000355999 human ensembl 70_37 -1 known missense c.361 p.V121L 0.977 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 13 16 55.17 42 0 0.00 STK4 6789 genome.wustl.edu 37 20 43623740 43623740 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43623740 43623740 G A SNP STK4 ENST00000372806 human ensembl 70_37 +1 known missense c.535 p.A179T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 63 12 16.00 91 0 0.00 STK4 6789 genome.wustl.edu 37 20 43629817 43629817 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 43629817 43629817 G A SNP STK4 ENST00000372806 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 72 19 20.88 50 0 0.00 STK40 83931 genome.wustl.edu 37 1 36809771 36809771 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36809771 36809771 G A SNP STK40 ENST00000373130 human ensembl 70_37 -1 known silent c.849 p.I283 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK40 HGNC ENSG00000196182 51 14 21.54 59 0 0.00 STMN1 3925 genome.wustl.edu 37 1 26227120 26227120 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 26227120 26227120 G A SNP STMN1 ENST00000465604 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STMN1 HGNC ENSG00000117632 23 10 30.30 39 0 0.00 STMN1 3925 genome.wustl.edu 37 1 26227541 26227541 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 26227541 26227541 G C SNP STMN1 ENST00000357865 human ensembl 70_37 -1 known missense c.416 p.S139C 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN1 HGNC ENSG00000117632 36 34 48.57 63 0 0.00 STMN1 3925 genome.wustl.edu 37 1 26229917 26229917 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 26229917 26229917 G C SNP STMN1 ENST00000465604 human ensembl 70_37 -1 known rna NULL NULL 0.081 - - - no_errors STMN1 HGNC ENSG00000117632 18 7 28.00 21 0 0.00 STMN3 50861 genome.wustl.edu 37 20 62272750 62272750 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 62272750 62272750 C G SNP STMN3 ENST00000370053 human ensembl 70_37 -1 known missense c.484 p.E162Q 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN3 HGNC ENSG00000197457 20 8 28.57 19 0 0.00 STMN3 50861 genome.wustl.edu 37 20 62275132 62275132 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 62275132 62275132 C G SNP STMN3 ENST00000370053 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN3 HGNC ENSG00000197457 20 21 51.22 21 0 0.00 STMN4 81551 genome.wustl.edu 37 8 27097546 27097546 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 27097546 27097546 G C SNP STMN4 ENST00000350889 human ensembl 70_37 -1 known missense c.533 p.S178C 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 28 61 68.54 137 0 0.00 STMN4 81551 genome.wustl.edu 37 8 27099947 27099947 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 27099947 27099947 C T SNP STMN4 ENST00000350889 human ensembl 70_37 -1 known missense c.76 p.D26N 0.596 pirsf_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 85 29 25.44 80 0 0.00 STOML3 161003 genome.wustl.edu 37 13 39541032 39541032 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 39541032 39541032 G T SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known missense c.806 p.P269H 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 34 4 10.53 10 0 0.00 STOML3 161003 genome.wustl.edu 37 13 39542567 39542567 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 39542567 39542567 C T SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known silent c.621 p.E207 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 13 14 51.85 42 0 0.00 STOML3 161003 genome.wustl.edu 37 13 39544498 39544498 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 39544498 39544498 G A SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known nonsense c.340 p.Q114* 0.001 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 9 30 76.92 47 0 0.00 STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808733 48808733 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48808733 48808733 G T SNP STON1-GTF2A1L ENST00000309827 human ensembl 70_37 +1 known nonsense c.961 p.E321* 1.000 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 12 8 40.00 37 0 0.00 STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808940 48808940 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 48808940 48808940 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 70_37 +1 known silent c.1168 p.L390 0.995 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 41 30 42.25 66 0 0.00 STON2 85439 genome.wustl.edu 37 14 81743548 81743548 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 14 81743548 81743548 C T SNP STON2 ENST00000267540 human ensembl 70_37 -1 known missense c.2107 p.V703M 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 20 12 37.50 41 0 0.00 STON2 85439 genome.wustl.edu 37 14 81745071 81745071 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 81745071 81745071 G A SNP STON2 ENST00000267540 human ensembl 70_37 -1 known missense c.584 p.S195L 0.988 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 8 4 33.33 40 0 0.00 STON2 85439 genome.wustl.edu 37 14 81837384 81837384 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 81837384 81837384 G A SNP STON2 ENST00000267540 human ensembl 70_37 -1 known silent c.519 p.L173 0.223 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 22 10 31.25 29 0 0.00 STON2 85439 genome.wustl.edu 37 14 81862321 81862321 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 81862321 81862321 G A SNP STON2 ENST00000267540 human ensembl 70_37 -1 known missense c.290 p.S97L 0.893 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 15 24 61.54 62 0 0.00 STOX2 56977 genome.wustl.edu 37 4 184930517 184930517 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 184930517 184930517 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known missense c.526 p.G176R 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 40 31 43.66 35 0 0.00 STOX2 56977 genome.wustl.edu 37 4 184931020 184931020 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 184931020 184931020 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known silent c.1029 p.Q343 0.010 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 22 7 24.14 21 0 0.00 STOX2 56977 genome.wustl.edu 37 4 184931890 184931890 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 184931890 184931890 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known silent c.1899 p.V633 0.995 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 16 8 33.33 29 0 0.00 STOX2 56977 genome.wustl.edu 37 4 184932745 184932746 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 184932745 184932746 - A INS STOX2 ENST00000438269 human ensembl 70_37 +1 known frame_shift_ins c.2591_2592 p.*865fs 1.000:0.998 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 38 14 26.92 79 0 0.00 STPG1 90529 genome.wustl.edu 37 1 24684860 24684860 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 24684860 24684860 C T SNP STPG1 ENST00000468303 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors STPG1 HGNC ENSG00000001460 29 11 27.50 43 0 0.00 STPG1 90529 genome.wustl.edu 37 1 24695798 24695798 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 24695798 24695798 G A SNP STPG1 ENST00000497384 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STPG1 HGNC ENSG00000001460 21 11 34.38 23 0 0.00 STPG2 285555 genome.wustl.edu 37 4 98761974 98761974 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 98761974 98761974 G A SNP STPG2 ENST00000295268 human ensembl 70_37 -1 known missense c.1154 p.S385F 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 45 7 13.46 28 0 0.00 STRA6 64220 genome.wustl.edu 37 15 74486261 74486261 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 74486261 74486261 G T SNP STRA6 ENST00000563965 human ensembl 70_37 -1 known silent c.717 p.I239 0.999 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 44 32 41.56 127 0 0.00 STRA6 64220 genome.wustl.edu 37 15 74487663 74487663 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 74487663 74487663 C T SNP STRA6 ENST00000563965 human ensembl 70_37 -1 known missense c.694 p.E232K 1.000 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 133 49 26.92 90 0 0.00 STRADA 92335 genome.wustl.edu 37 17 61788121 61788121 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61788121 61788121 C T SNP STRADA ENST00000336174 human ensembl 70_37 -1 known missense c.424 p.E142K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 80 34 29.82 107 0 0.00 STRADA 92335 genome.wustl.edu 37 17 61790876 61790876 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 61790876 61790876 C G SNP STRADA ENST00000336174 human ensembl 70_37 -1 known missense c.238 p.E80Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 41 26 38.81 85 0 0.00 STRADA 92335 genome.wustl.edu 37 17 61800729 61800729 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 61800729 61800729 G A SNP STRADA ENST00000580039 human ensembl 70_37 -1 known rna NULL NULL 0.989 - - - no_errors STRADA HGNC ENSG00000266173 26 16 38.10 39 0 0.00 STRADB 55437 genome.wustl.edu 37 2 202344746 202344746 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202344746 202344746 C A SNP STRADB ENST00000392249 human ensembl 70_37 +1 known missense c.1129 p.L377I 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC ENSG00000082146 14 14 50.00 25 0 0.00 STRADB 55437 genome.wustl.edu 37 2 202344764 202344764 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202344764 202344764 G C SNP STRADB ENST00000194530 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC ENSG00000082146 44 15 25.42 34 0 0.00 STRADB 55437 genome.wustl.edu 37 2 202344886 202344886 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 202344886 202344886 C T SNP STRADB ENST00000194530 human ensembl 70_37 +1 known silent c.1245 p.Y415 0.437 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC ENSG00000082146 39 6 13.33 63 0 0.00 STRADB 55437 genome.wustl.edu 37 2 202344895 202344895 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 202344895 202344895 C T SNP STRADB ENST00000194530 human ensembl 70_37 +1 known silent c.1254 p.F418 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADB HGNC ENSG00000082146 71 28 28.28 45 0 0.00 STRAP 11171 genome.wustl.edu 37 12 16052915 16052915 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 16052915 16052915 G C SNP STRAP ENST00000025399 human ensembl 70_37 +1 known missense c.892 p.E298Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 11 26 70.27 73 0 0.00 STRBP 55342 genome.wustl.edu 37 9 125923338 125923338 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 125923338 125923338 G A SNP STRBP ENST00000348403 human ensembl 70_37 -1 known missense c.545 p.S182L 0.998 pfam_DZF,smart_DZF pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STRBP HGNC ENSG00000165209 28 16 36.36 49 0 0.00 STRC 161497 genome.wustl.edu 37 15 43892273 43892273 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 43892273 43892273 G C SNP STRC ENST00000450892 human ensembl 70_37 -1 known silent c.5124 p.L1708 1.000 NULL NULL - no_errors STRC HGNC ENSG00000242866 98 33 25.00 111 0 0.00 STRC 161497 genome.wustl.edu 37 15 43892280 43892280 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 43892280 43892280 G C SNP STRC ENST00000450892 human ensembl 70_37 -1 known missense c.5117 p.S1706C 1.000 NULL NULL - no_errors STRC HGNC ENSG00000242866 94 32 25.40 103 0 0.00 STRC 161497 genome.wustl.edu 37 15 43893150 43893150 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 43893150 43893150 G A SNP STRC ENST00000450892 human ensembl 70_37 -1 known silent c.4764 p.F1588 0.998 NULL NULL - no_errors STRC HGNC ENSG00000242866 63 10 13.70 29 0 0.00 STRIP1 85369 genome.wustl.edu 37 1 110580706 110580706 + RNA SNP A A G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 110580706 110580706 A G SNP STRIP1 ENST00000489059 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STRIP1 HGNC ENSG00000143093 9 6 40.00 15 0 0.00 STRIP1 85369 genome.wustl.edu 37 1 110585728 110585728 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110585728 110585728 G C SNP STRIP1 ENST00000369795 human ensembl 70_37 +1 known missense c.904 p.E302Q 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 22 11 33.33 22 0 0.00 STRIP1 85369 genome.wustl.edu 37 1 110585817 110585817 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 110585817 110585817 G A SNP STRIP1 ENST00000369795 human ensembl 70_37 +1 known missense c.993 p.M331I 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 25 9 26.47 27 0 0.00 STRN 6801 genome.wustl.edu 37 2 37082431 37082431 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 37082431 37082431 G A SNP STRN ENST00000263918 human ensembl 70_37 -1 known silent c.1902 p.F634 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 87 30 25.64 130 1 0.76 STRN 6801 genome.wustl.edu 37 2 37096817 37096817 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 37096817 37096817 C T SNP STRN ENST00000263918 human ensembl 70_37 -1 known missense c.1379 p.R460K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 35 29 45.31 47 0 0.00 STRN 6801 genome.wustl.edu 37 2 37152346 37152346 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 37152346 37152346 C G SNP STRN ENST00000263918 human ensembl 70_37 -1 known missense c.240 p.Q80H 1.000 pfam_Striatin_N pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 58 24 29.27 74 0 0.00 STRN 6801 genome.wustl.edu 37 2 37193479 37193480 + Frame_Shift_Ins INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 37193479 37193480 - C INS STRN ENST00000263918 human ensembl 70_37 -1 known frame_shift_ins c.128_127 p.A43fs 1.000:1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 6 3 33.33 13 0 0.00 STRN4 29888 genome.wustl.edu 37 19 47225314 47225314 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 47225314 47225314 G C SNP STRN4 ENST00000391910 human ensembl 70_37 -1 known missense c.2042 p.S681C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 57 9 13.64 43 0 0.00 STS 412 genome.wustl.edu 37 X 7177409 7177409 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 X 7177409 7177409 G C SNP STS ENST00000217961 human ensembl 70_37 +1 known missense c.417 p.M139I 0.032 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 66 11 14.29 39 0 0.00 STS 412 genome.wustl.edu 37 X 7252034 7252034 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 7252034 7252034 G T SNP STS ENST00000217961 human ensembl 70_37 +1 known missense c.1264 p.D422Y 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 82 14 14.58 67 0 0.00 STUB1 10273 genome.wustl.edu 37 16 731466 731466 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 731466 731466 G A SNP STUB1 ENST00000219548 human ensembl 70_37 +1 known silent c.387 p.L129 1.000 NULL pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 23 10 30.30 32 0 0.00 STX10 8677 genome.wustl.edu 37 19 13260417 13260417 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 13260417 13260417 G C SNP STX10 ENST00000440593 human ensembl 70_37 -1 known silent c.207 p.V69 0.076 pfam_Syntaxin-6_N pfam_Syntaxin-6_N,superfamily_t-SNARE - no_errors STX10 HGNC ENSG00000104915 36 11 23.40 45 0 0.00 STX11 8676 genome.wustl.edu 37 6 144507888 144507888 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 144507888 144507888 G C SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.124 p.E42Q 1.000 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 25 12 32.43 57 0 0.00 STX11 8676 genome.wustl.edu 37 6 144508032 144508032 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 144508032 144508032 G A SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.268 p.A90T 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 34 4 10.53 37 0 0.00 STX11 8676 genome.wustl.edu 37 6 144508077 144508077 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 144508077 144508077 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.313 p.R105C 0.654 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 15 7 31.82 24 0 0.00 STX11 8676 genome.wustl.edu 37 6 144508280 144508280 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 144508280 144508280 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known silent c.516 p.V172 0.989 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 30 33 52.38 47 0 0.00 STX11 8676 genome.wustl.edu 37 6 144508376 144508376 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 144508376 144508376 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known silent c.612 p.L204 1.000 superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 25 11 30.56 43 0 0.00 STX12 23673 genome.wustl.edu 37 1 28148834 28148834 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 28148834 28148834 G A SNP STX12 ENST00000373943 human ensembl 70_37 +1 known silent c.825 p.T275 0.998 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 14 17 54.84 40 0 0.00 STX16-NPEPL1 100534593 genome.wustl.edu 37 20 57244413 57244413 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 57244413 57244413 G C SNP STX16-NPEPL1 ENST00000530122 human ensembl 70_37 +1 known missense c.460 p.E154Q 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 42 25 37.31 47 0 0.00 STX1B 112755 genome.wustl.edu 37 16 31008859 31008859 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 31008859 31008859 G C SNP STX1B ENST00000215095 human ensembl 70_37 -1 known missense c.318 p.N106K 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 142 32 18.39 192 0 0.00 STX2 2054 genome.wustl.edu 37 12 131297555 131297555 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 131297555 131297555 T A SNP STX2 ENST00000392373 human ensembl 70_37 -1 known missense c.227 p.D76V 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 15 9 37.50 18 0 0.00 STX3 6809 genome.wustl.edu 37 11 59560600 59560600 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 59560600 59560600 G T SNP STX3 ENST00000337979 human ensembl 70_37 +1 known silent c.495 p.L165 1.000 superfamily_t-SNARE pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 35 4 10.26 41 0 0.00 STX3 6809 genome.wustl.edu 37 11 59560895 59560895 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 59560895 59560895 G A SNP STX3 ENST00000337979 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 18 6 25.00 44 0 0.00 STX3 6809 genome.wustl.edu 37 11 59562924 59562924 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 59562924 59562924 A C SNP STX3 ENST00000337979 human ensembl 70_37 +1 known missense c.755 p.K252T 0.998 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 15 19 55.88 28 0 0.00 STX5 6811 genome.wustl.edu 37 11 62592575 62592575 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 62592575 62592575 C G SNP STX5 ENST00000294179 human ensembl 70_37 -1 known missense c.612 p.Q204H 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 13 2 13.33 25 0 0.00 STX6 10228 genome.wustl.edu 37 1 180942781 180942781 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 180942781 180942781 C T SNP STX6 ENST00000469135 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors STX6 HGNC ENSG00000135823 18 8 30.77 25 0 0.00 STX6 10228 genome.wustl.edu 37 1 180974431 180974431 + Missense_Mutation SNP G G C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 180974431 180974431 G C SNP STX6 ENST00000258301 human ensembl 70_37 -1 known missense c.204 p.I68M 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 225 31 12.11 269 0 0.00 STX7 8417 genome.wustl.edu 37 6 132781956 132781956 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 132781956 132781956 G C SNP STX7 ENST00000367941 human ensembl 70_37 -1 known missense c.727 p.L243V 0.136 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX7 HGNC ENSG00000079950 19 9 32.14 13 0 0.00 STX8 9482 genome.wustl.edu 37 17 9448547 9448547 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 9448547 9448547 G A SNP STX8 ENST00000306357 human ensembl 70_37 -1 known nonsense c.265 p.R89* 0.474 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 75 22 22.68 82 0 0.00 STX8 9482 genome.wustl.edu 37 17 9448566 9448566 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 9448566 9448566 G C SNP STX8 ENST00000306357 human ensembl 70_37 -1 known silent c.246 p.L82 0.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 30 24 44.44 75 0 0.00 STX8 9482 genome.wustl.edu 37 17 9471774 9471774 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 9471774 9471774 C T SNP STX8 ENST00000306357 human ensembl 70_37 -1 known missense c.31 p.D11N 1.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 31 17 35.42 90 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130425708 130425708 + RNA SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 130425708 130425708 C T SNP STXBP1 ENST00000496504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STXBP1 HGNC ENSG00000136854 20 17 45.95 26 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130425709 130425709 + RNA SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 130425709 130425709 C T SNP STXBP1 ENST00000496504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STXBP1 HGNC ENSG00000136854 19 17 47.22 26 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130427590 130427590 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 130427590 130427590 G A SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known missense c.643 p.D215N 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 54 15 21.74 57 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130428485 130428485 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 130428485 130428485 G A SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known missense c.704 p.R235Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 93 21 18.42 127 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130438193 130438193 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130438193 130438193 C T SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known silent c.1221 p.I407 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 44 23 33.82 51 0 0.00 STXBP1 6812 genome.wustl.edu 37 9 130438202 130438202 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130438202 130438202 C G SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known silent c.1230 p.L410 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 41 22 34.92 48 0 0.00 STXBP2 6813 genome.wustl.edu 37 19 7709550 7709550 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 7709550 7709550 G A SNP STXBP2 ENST00000221283 human ensembl 70_37 +1 known missense c.1158 p.M386I 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 47 30 38.96 63 0 0.00 STXBP3 6814 genome.wustl.edu 37 1 109299362 109299362 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 109299362 109299362 C T SNP STXBP3 ENST00000370008 human ensembl 70_37 +1 known missense c.232 p.L78F 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 79 25 24.04 114 0 0.00 STXBP3 6814 genome.wustl.edu 37 1 109350080 109350080 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109350080 109350080 G A SNP STXBP3 ENST00000370008 human ensembl 70_37 +1 known silent c.1593 p.L531 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 40 29 42.03 56 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53068305 53068305 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 53068305 53068305 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.167 p.G56A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 27 22 44.90 47 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53077096 53077096 + Nonsense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 53077096 53077096 G T SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known nonsense c.391 p.G131* 0.003 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 22 19 46.34 69 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53077107 53077107 + Silent SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 53077107 53077107 C G SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known silent c.402 p.A134 0.055 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 35 11 23.91 29 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53111588 53111588 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 53111588 53111588 G A SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.823 p.A275T 0.228 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 44 34 43.59 64 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53120633 53120633 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 53120633 53120633 G T SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known nonsense c.892 p.E298* 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 16 13 44.83 43 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53124509 53124509 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 53124509 53124509 G A SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known silent c.1005 p.V335 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 2 3 60.00 25 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53150329 53150329 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 53150329 53150329 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1080 p.Q360H 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 30 19 38.78 36 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53150360 53150360 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 53150360 53150360 G A SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1111 p.E371K 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 20 6 23.08 47 0 0.00 STXBP4 252983 genome.wustl.edu 37 17 53237197 53237197 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 53237197 53237197 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1587 p.M529I 0.988 superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC ENSG00000166263 31 11 26.19 31 0 0.00 STXBP5 134957 genome.wustl.edu 37 6 147525730 147525730 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 147525730 147525730 C T SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.62 p.S21L 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 70 11 13.58 101 0 0.00 STXBP5 134957 genome.wustl.edu 37 6 147635411 147635411 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 147635411 147635411 C T SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known silent c.1305 p.I435 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 10 14 58.33 49 0 0.00 STXBP5 134957 genome.wustl.edu 37 6 147660514 147660514 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 147660514 147660514 G C SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.2248 p.D750H 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 25 7 21.88 51 0 0.00 STXBP5 134957 genome.wustl.edu 37 6 147680232 147680232 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 147680232 147680232 A G SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.2318 p.N773S 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 13 3 18.75 45 0 0.00 STXBP5L 9515 genome.wustl.edu 37 3 120957831 120957831 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 120957831 120957831 G C SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.1198 p.E400Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 21 8 27.59 17 0 0.00 STXBP5L 9515 genome.wustl.edu 37 3 120998662 120998662 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 120998662 120998662 G C SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.1969 p.G657R 1.000 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 48 15 23.81 51 0 0.00 STXBP5L 9515 genome.wustl.edu 37 3 121132054 121132054 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121132054 121132054 G A SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.3070 p.D1024N 1.000 pfam_Lgl_C pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 74 12 13.95 65 0 0.00 STXBP6 29091 genome.wustl.edu 37 14 25288491 25288491 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 25288491 25288491 G T SNP STXBP6 ENST00000548369 human ensembl 70_37 -1 known missense c.55 p.P19T 0.001 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 10 4 28.57 18 0 0.00 STXBP6 29091 genome.wustl.edu 37 14 25326285 25326285 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 25326285 25326285 G A SNP STXBP6 ENST00000323944 human ensembl 70_37 -1 known missense c.233 p.S78L 1.000 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 77 45 36.59 143 0 0.00 STYK1 55359 genome.wustl.edu 37 12 10777320 10777320 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 10777320 10777320 G C SNP STYK1 ENST00000075503 human ensembl 70_37 -1 known missense c.856 p.Q286E 0.004 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 157 22 12.29 163 0 0.00 STYK1 55359 genome.wustl.edu 37 12 10782274 10782274 + Splice_Site SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 10782274 10782274 C T SNP STYK1 ENST00000075503 human ensembl 70_37 -1 known splice_site c.452-1 e4-1 0.998 - - - no_errors STYK1 HGNC ENSG00000060140 34 40 54.05 61 0 0.00 STYXL1 51657 genome.wustl.edu 37 7 75633094 75633094 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 75633094 75633094 G T SNP STYXL1 ENST00000248600 human ensembl 70_37 -1 known missense c.679 p.H227N 0.969 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 23 4 14.81 30 0 0.00 STYXL1 51657 genome.wustl.edu 37 7 75634621 75634621 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75634621 75634621 C G SNP STYXL1 ENST00000248600 human ensembl 70_37 -1 known missense c.555 p.L185F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 59 20 25.32 71 0 0.00 STYXL1 51657 genome.wustl.edu 37 7 75634707 75634707 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75634707 75634707 G C SNP STYXL1 ENST00000360591 human ensembl 70_37 -1 known nonsense c.323 p.S108* 0.968 NULL superfamily_Rhodanese-like_dom - no_errors STYXL1 HGNC ENSG00000127952 48 37 43.53 94 0 0.00 SUCLA2 8803 genome.wustl.edu 37 13 48562678 48562678 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 48562678 48562678 G A SNP SUCLA2 ENST00000378654 human ensembl 70_37 -1 known nonsense c.532 p.Q178* 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLA2 HGNC ENSG00000136143 31 10 24.39 71 0 0.00 SUCLG1 8802 genome.wustl.edu 37 2 84668457 84668457 + Nonsense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 84668457 84668457 G A SNP SUCLG1 ENST00000393868 human ensembl 70_37 -1 known nonsense c.445 p.Q149* 1.000 pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC ENSG00000163541 24 21 46.67 35 0 0.00 SUCLG1 8802 genome.wustl.edu 37 2 84668473 84668473 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 84668473 84668473 G A SNP SUCLG1 ENST00000393868 human ensembl 70_37 -1 known silent c.429 p.I143 0.557 pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC ENSG00000163541 31 11 26.19 46 0 0.00 SUCLG2 8801 genome.wustl.edu 37 3 67579602 67579602 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 67579602 67579602 C A SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known nonsense c.235 p.E79* 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 9 9 50.00 27 0 0.00 SUCO 51430 genome.wustl.edu 37 1 172557994 172557994 + Nonsense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 172557994 172557994 G T SNP SUCO ENST00000367723 human ensembl 70_37 +1 known nonsense c.2209 p.E737* 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 19 8 29.63 22 0 0.00 SUCO 51430 genome.wustl.edu 37 1 172560172 172560172 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 172560172 172560172 C T SNP SUCO ENST00000367723 human ensembl 70_37 +1 known silent c.3330 p.I1110 0.999 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 35 27 43.55 59 0 0.00 SUCO 51430 genome.wustl.edu 37 1 172571295 172571295 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 172571295 172571295 C G SNP SUCO ENST00000367723 human ensembl 70_37 +1 known missense c.3566 p.S1189C 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 57 16 21.92 82 0 0.00 SUDS3 64426 genome.wustl.edu 37 12 118852228 118852228 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 118852228 118852228 C G SNP SUDS3 ENST00000397564 human ensembl 70_37 +1 known nonsense c.980 p.S327* 1.000 NULL pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 17 10 37.04 21 0 0.00 SUFU 51684 genome.wustl.edu 37 10 104309818 104309818 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 104309818 104309818 C T SNP SUFU ENST00000369902 human ensembl 70_37 +1 known missense c.409 p.P137S 1.000 pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC ENSG00000107882 107 13 10.74 87 0 0.00 SUFU 51684 genome.wustl.edu 37 10 104353761 104353761 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 104353761 104353761 C T SNP SUFU ENST00000369902 human ensembl 70_37 +1 known missense c.695 p.P232L 1.000 pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC ENSG00000107882 39 19 32.76 81 0 0.00 SUFU 51684 genome.wustl.edu 37 10 104375151 104375151 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 104375151 104375151 C G SNP SUFU ENST00000369902 human ensembl 70_37 +1 known silent c.1149 p.L383 0.999 pfam_SUFU_C,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC ENSG00000107882 86 14 14.00 105 0 0.00 SUGP1 57794 genome.wustl.edu 37 19 19391009 19391009 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 19391009 19391009 C T SNP SUGP1 ENST00000247001 human ensembl 70_37 -1 known silent c.1335 p.L445 0.998 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 16 18 52.94 24 0 0.00 SUGP2 10147 genome.wustl.edu 37 19 19136044 19136044 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 19136044 19136044 A C SNP SUGP2 ENST00000337018 human ensembl 70_37 -1 known missense c.1113 p.C371W 0.994 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 12 10 45.45 39 0 0.00 SUGP2 10147 genome.wustl.edu 37 19 19136583 19136583 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 19136583 19136583 C G SNP SUGP2 ENST00000337018 human ensembl 70_37 -1 known missense c.574 p.D192H 0.201 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 27 9 25.00 31 0 0.00 SUGT1 10910 genome.wustl.edu 37 13 53239860 53239860 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 53239860 53239860 G C SNP SUGT1 ENST00000343788 human ensembl 70_37 +1 known missense c.607 p.E203Q 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 43 15 25.00 48 0 0.00 SUGT1P3 283507 genome.wustl.edu 37 13 41495643 41495643 + Silent SNP A A C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 41495643 41495643 A C SNP SUGT1P3 ENST00000494063 human ensembl 70_37 -1 known silent c.63 p.A21 0.931 NULL pfscan_TPR-contain_dom - no_errors SUGT1P3 HGNC ENSG00000239827 40 18 31.03 63 0 0.00 SULF1 23213 genome.wustl.edu 37 8 70550804 70550804 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 70550804 70550804 G A SNP SULF1 ENST00000260128 human ensembl 70_37 +1 known silent c.2352 p.E784 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 20 13 39.39 44 0 0.00 SULF1 23213 genome.wustl.edu 37 8 70553066 70553066 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 70553066 70553066 G A SNP SULF1 ENST00000260128 human ensembl 70_37 +1 known missense c.2575 p.D859N 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 41 21 33.87 54 0 0.00 SULF2 55959 genome.wustl.edu 37 20 46290231 46290231 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 46290231 46290231 G T SNP SULF2 ENST00000433632 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SULF2 HGNC ENSG00000196562 62 31 33.33 100 0 0.00 SULF2 55959 genome.wustl.edu 37 20 46311744 46311744 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 46311744 46311744 C A SNP SULF2 ENST00000359930 human ensembl 70_37 -1 known missense c.1058 p.G353V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 49 6 10.91 60 0 0.00 SULF2 55959 genome.wustl.edu 37 20 46331391 46331391 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 46331391 46331391 C T SNP SULF2 ENST00000359930 human ensembl 70_37 -1 known missense c.439 p.E147K 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 51 11 17.74 35 0 0.00 SULT1A1 6817 genome.wustl.edu 37 16 28619669 28619669 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 28619669 28619669 C T SNP SULT1A1 ENST00000314752 human ensembl 70_37 -1 known silent c.315 p.L105 0.945 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A1 HGNC ENSG00000196502 112 50 30.86 188 1 0.53 SULT1A1 6817 genome.wustl.edu 37 16 28620067 28620067 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 28620067 28620067 C T SNP SULT1A1 ENST00000314752 human ensembl 70_37 -1 known missense c.110 p.R37Q 0.292 NULL pfam_Sulfotransferase_dom - no_errors SULT1A1 HGNC ENSG00000196502 89 39 30.23 118 0 0.00 SULT1A2 6799 genome.wustl.edu 37 16 28606788 28606788 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 28606788 28606788 G A SNP SULT1A2 ENST00000534108 human ensembl 70_37 -1 known silent c.357 p.L119 0.080 NULL pfam_Sulfotransferase_dom - no_errors SULT1A2 HGNC ENSG00000197165 53 24 30.77 129 0 0.00 SULT1A2 6799 genome.wustl.edu 37 16 28606917 28606917 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 28606917 28606917 G A SNP SULT1A2 ENST00000335715 human ensembl 70_37 -1 known silent c.228 p.F76 0.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A2 HGNC ENSG00000197165 76 31 28.97 98 0 0.00 SULT1B1 27284 genome.wustl.edu 37 4 70596298 70596298 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 70596298 70596298 C T SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.699 p.M233I 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC ENSG00000173597 33 21 38.89 51 0 0.00 SULT1B1 27284 genome.wustl.edu 37 4 70599967 70599967 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 70599967 70599967 G A SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC ENSG00000173597 41 17 29.31 34 0 0.00 SULT1B1 27284 genome.wustl.edu 37 4 70620485 70620485 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 70620485 70620485 C T SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.180 p.M60I 0.993 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC ENSG00000173597 106 40 27.40 193 0 0.00 SULT1C2P1 151234 genome.wustl.edu 37 2 108938842 108938842 + RNA SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 2 108938842 108938842 T C SNP SULT1C2P1 ENST00000427208 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SULT1C2P1 HGNC ENSG00000237223 13 4 23.53 9 0 0.00 SULT1C3 442038 genome.wustl.edu 37 2 108881768 108881768 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 108881768 108881768 G A SNP SULT1C3 ENST00000329106 human ensembl 70_37 +1 known silent c.876 p.K292 0.999 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C3 HGNC ENSG00000196228 52 53 50.48 100 0 0.00 SULT1C4 27233 genome.wustl.edu 37 2 108999913 108999913 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 108999913 108999913 G C SNP SULT1C4 ENST00000272452 human ensembl 70_37 +1 known missense c.562 p.E188Q 0.813 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C4 HGNC ENSG00000198075 60 18 23.08 106 0 0.00 SULT1E1 6783 genome.wustl.edu 37 4 70715163 70715163 + Missense_Mutation SNP T T G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 4 70715163 70715163 T G SNP SULT1E1 ENST00000226444 human ensembl 70_37 -1 known missense c.488 p.Q163P 0.978 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1E1 HGNC ENSG00000109193 17 9 34.62 25 0 0.00 SULT2B1 6820 genome.wustl.edu 37 19 49090586 49090586 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 49090586 49090586 G C SNP SULT2B1 ENST00000201586 human ensembl 70_37 +1 known missense c.315 p.E105D 0.731 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT2B1 HGNC ENSG00000088002 36 8 18.18 41 0 0.00 SULT2B1 6820 genome.wustl.edu 37 19 49100097 49100097 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49100097 49100097 G A SNP SULT2B1 ENST00000201586 human ensembl 70_37 +1 known missense c.747 p.M249I 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT2B1 HGNC ENSG00000088002 30 9 23.08 50 0 0.00 SULT2B1 6820 genome.wustl.edu 37 19 49102448 49102448 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 19 49102448 49102448 C T SNP SULT2B1 ENST00000201586 human ensembl 70_37 +1 known missense c.883 p.R295C 0.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT2B1 HGNC ENSG00000088002 53 21 28.38 83 0 0.00 SULT4A1 25830 genome.wustl.edu 37 22 44225002 44225002 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 44225002 44225002 G A SNP SULT4A1 ENST00000330884 human ensembl 70_37 -1 known missense c.680 p.T227M 0.037 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT4A1 HGNC ENSG00000130540 8 10 55.56 48 0 0.00 SULT4A1 25830 genome.wustl.edu 37 22 44234843 44234843 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 22 44234843 44234843 G A SNP SULT4A1 ENST00000330884 human ensembl 70_37 -1 known silent c.412 p.L138 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT4A1 HGNC ENSG00000130540 41 18 30.51 70 0 0.00 SULT6B1 391365 genome.wustl.edu 37 2 37398707 37398707 + Silent SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 37398707 37398707 A T SNP SULT6B1 ENST00000535679 human ensembl 70_37 -1 known silent c.651 p.I217 0.002 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT6B1 HGNC ENSG00000138068 69 17 19.77 46 0 0.00 SULT6B1 391365 genome.wustl.edu 37 2 37410613 37410613 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 37410613 37410613 G A SNP SULT6B1 ENST00000535679 human ensembl 70_37 -1 known silent c.357 p.L119 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT6B1 HGNC ENSG00000138068 27 10 27.03 41 0 0.00 SUMF1 285362 genome.wustl.edu 37 3 4458918 4458918 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 4458918 4458918 G C SNP SUMF1 ENST00000448413 human ensembl 70_37 -1 known missense c.734 p.P245R 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 43 17 28.33 161 0 0.00 SUMF1 285362 genome.wustl.edu 37 3 4508728 4508728 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 4508728 4508728 G A SNP SUMF1 ENST00000448413 human ensembl 70_37 -1 known missense c.202 p.H68Y 1.000 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 12 7 36.84 26 0 0.00 SUMF2 25870 genome.wustl.edu 37 7 56147257 56147257 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 56147257 56147257 C T SNP SUMF2 ENST00000342190 human ensembl 70_37 +1 known missense c.770 p.S257L 0.803 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 60 12 16.67 45 0 0.00 SUMO1 7341 genome.wustl.edu 37 2 203079157 203079157 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 203079157 203079157 C G SNP SUMO1 ENST00000392245 human ensembl 70_37 -1 known missense c.88 p.D30H 1.000 pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC ENSG00000116030 42 6 12.50 56 0 0.00 SUMO1 7341 genome.wustl.edu 37 2 203084816 203084816 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 203084816 203084816 G C SNP SUMO1 ENST00000392245 human ensembl 70_37 -1 known nonsense c.26 p.S9* 1.000 NULL pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC ENSG00000116030 69 13 15.85 62 0 0.00 SUMO1 7341 genome.wustl.edu 37 2 203096434 203096434 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 203096434 203096434 G C SNP SUMO1 ENST00000409627 human ensembl 70_37 -1 known missense c.34 p.L12V 1.000 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 13 7 35.00 24 0 0.00 SUMO3 6612 genome.wustl.edu 37 21 46225784 46225784 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46225784 46225784 G A SNP SUMO3 ENST00000479153 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SUMO3 HGNC ENSG00000184900 8 10 55.56 22 0 0.00 SUMO3 6612 genome.wustl.edu 37 21 46226693 46226693 + RNA SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 21 46226693 46226693 G C SNP SUMO3 ENST00000479153 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors SUMO3 HGNC ENSG00000184900 8 6 42.86 23 0 0.00 SUMO3 6612 genome.wustl.edu 37 21 46226929 46226929 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 46226929 46226929 G A SNP SUMO3 ENST00000397898 human ensembl 70_37 -1 novel missense c.299 p.S100L 0.253 NULL pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin - no_errors SUMO3 HGNC ENSG00000184900 18 4 18.18 28 0 0.00 SUMO3 6612 genome.wustl.edu 37 21 46228470 46228470 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46228470 46228470 G C SNP SUMO3 ENST00000397893 human ensembl 70_37 -1 putative nonsense c.236 p.S79* 0.001 smart_Ubiquitin pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin - no_errors SUMO3 HGNC ENSG00000184900 16 8 33.33 25 0 0.00 SUN1 23353 genome.wustl.edu 37 7 892253 892253 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 892253 892253 C T SNP SUN1 ENST00000456758 human ensembl 70_37 +1 known nonsense c.1426 p.R476* 1.000 pfam_RNA-bd_mt pfam_RNA-bd_mt,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 29 18 38.30 72 0 0.00 SUN1 23353 genome.wustl.edu 37 7 909082 909082 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 909082 909082 C G SNP SUN1 ENST00000456758 human ensembl 70_37 +1 known missense c.2644 p.L882V 0.000 pfam_Sad1_UNC_C pfam_RNA-bd_mt,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 27 14 34.15 23 0 0.00 SUN2 25777 genome.wustl.edu 37 22 39132286 39132286 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 39132286 39132286 C T SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known missense c.2140 p.E714K 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 30 14 31.82 48 0 0.00 SUN2 25777 genome.wustl.edu 37 22 39135417 39135417 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 39135417 39135417 G A SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known silent c.1593 p.I531 0.042 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 10 3 23.08 16 0 0.00 SUN2 25777 genome.wustl.edu 37 22 39144780 39144780 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 39144780 39144780 G A SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known missense c.623 p.S208L 0.982 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 35 14 28.57 28 0 0.00 SUN2 25777 genome.wustl.edu 37 22 39146332 39146332 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 39146332 39146332 G T SNP SUN2 ENST00000405018 human ensembl 70_37 -1 novel missense c.481 p.P161T 0.873 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 25 3 10.71 36 0 0.00 SUN5 140732 genome.wustl.edu 37 20 31571708 31571708 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 31571708 31571708 G T SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known missense c.1032 p.S344R 0.998 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 47 25 34.72 74 0 0.00 SUN5 140732 genome.wustl.edu 37 20 31573640 31573640 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 31573640 31573640 G A SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known nonsense c.799 p.Q267* 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 59 23 28.05 78 0 0.00 SUN5 140732 genome.wustl.edu 37 20 31573703 31573703 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 31573703 31573703 C T SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known missense c.736 p.V246M 0.517 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 61 7 10.29 55 0 0.00 SUOX 6821 genome.wustl.edu 37 12 56398056 56398056 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56398056 56398056 G A SNP SUOX ENST00000266971 human ensembl 70_37 +1 known missense c.883 p.G295R 1.000 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 19 15 44.12 26 0 0.00 SUOX 6821 genome.wustl.edu 37 12 56398437 56398437 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56398437 56398437 G T SNP SUOX ENST00000266971 human ensembl 70_37 +1 known nonsense c.1264 p.E422* 1.000 pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 70 44 38.60 119 0 0.00 SUOX 6821 genome.wustl.edu 37 12 56398554 56398554 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 56398554 56398554 G C SNP SUOX ENST00000266971 human ensembl 70_37 +1 known missense c.1381 p.D461H 1.000 pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 102 20 16.39 84 0 0.00 SUPT16H 11198 genome.wustl.edu 37 14 21821725 21821725 + Splice_Site SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 21821725 21821725 C G SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known splice_site c.2921-1 e25-1 1.000 - - - no_errors SUPT16H HGNC ENSG00000092201 20 15 42.86 57 0 0.00 SUPT16H 11198 genome.wustl.edu 37 14 21829300 21829300 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 21829300 21829300 G A SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known silent c.1866 p.F622 0.994 pfam_FACT_Spt16p pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 37 5 11.90 22 0 0.00 SUPT16H 11198 genome.wustl.edu 37 14 21831637 21831637 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 21831637 21831637 G A SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known missense c.1259 p.S420F 1.000 superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 72 26 26.53 92 0 0.00 SUPT16H 11198 genome.wustl.edu 37 14 21852049 21852049 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 21852049 21852049 C T SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known missense c.38 p.R13Q 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 30 14 31.82 23 0 0.00 SUPT3H 8464 genome.wustl.edu 37 6 44988298 44988298 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 44988298 44988298 C T SNP SUPT3H ENST00000371460 human ensembl 70_37 -1 known silent c.291 p.L97 1.000 pfam_TFIID-18 pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 18 13 41.94 27 0 0.00 SUPT4H1 6827 genome.wustl.edu 37 17 56429476 56429476 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56429476 56429476 C T SNP SUPT4H1 ENST00000225504 human ensembl 70_37 -1 known silent c.21 p.P7 0.939 pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC ENSG00000213246 77 20 20.62 64 0 0.00 SUPT5H 6829 genome.wustl.edu 37 19 39957123 39957123 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 39957123 39957123 G C SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known missense c.880 p.D294H 1.000 smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 17 9 34.62 23 0 0.00 SUPT5H 6829 genome.wustl.edu 37 19 39962366 39962366 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39962366 39962366 C G SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known nonsense c.1946 p.S649* 0.997 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 27 9 25.00 44 0 0.00 SUPT5H 6829 genome.wustl.edu 37 19 39965349 39965349 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 39965349 39965349 C T SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known silent c.3015 p.R1005 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 35 6 14.63 31 0 0.00 SUPT6H 6830 genome.wustl.edu 37 17 27017196 27017196 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27017196 27017196 G C SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.3439 p.E1147Q 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 37 26 41.27 65 0 0.00 SUPT6H 6830 genome.wustl.edu 37 17 27020847 27020847 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 27020847 27020847 G A SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.3767 p.R1256Q 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 66 26 28.26 81 0 0.00 SUPT6H 6830 genome.wustl.edu 37 17 27024935 27024935 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 27024935 27024935 G T SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.4335 p.E1445D 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 32 4 11.11 44 0 0.00 SUPT7L 9913 genome.wustl.edu 37 2 27876450 27876450 + Missense_Mutation SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 2 27876450 27876450 C A SNP SUPT7L ENST00000337768 human ensembl 70_37 -1 known missense c.1147 p.D383Y 1.000 NULL pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 23 21 47.73 25 0 0.00 SUPT7L 9913 genome.wustl.edu 37 2 27880316 27880316 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27880316 27880316 C T SNP SUPT7L ENST00000337768 human ensembl 70_37 -1 known missense c.640 p.D214N 1.000 pfam_BTP,smart_BTP pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 48 11 18.64 40 0 0.00 SUPV3L1 6832 genome.wustl.edu 37 10 70940132 70940132 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 70940132 70940132 C T SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.85 p.R29C 0.490 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 50 12 19.05 32 0 0.00 SUPV3L1 6832 genome.wustl.edu 37 10 70945777 70945777 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 70945777 70945777 G A SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known silent c.306 p.K102 1.000 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 21 9 30.00 40 0 0.00 SUPV3L1 6832 genome.wustl.edu 37 10 70968684 70968684 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 70968684 70968684 G C SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.2254 p.E752Q 0.683 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 14 13 48.15 25 0 0.00 SUPV3L1 6832 genome.wustl.edu 37 10 70968732 70968732 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 70968732 70968732 G A SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.2302 p.E768K 0.003 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 56 28 33.33 70 0 0.00 SURF2 6835 genome.wustl.edu 37 9 136223814 136223814 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136223814 136223814 G C SNP SURF2 ENST00000371964 human ensembl 70_37 +1 known missense c.103 p.E35Q 1.000 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 20 14 41.18 18 0 0.00 SURF2 6835 genome.wustl.edu 37 9 136227994 136227994 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 136227994 136227994 C T SNP SURF2 ENST00000371964 human ensembl 70_37 +1 known silent c.750 p.S250 0.004 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 27 28 50.91 40 0 0.00 SURF4 6836 genome.wustl.edu 37 9 136230621 136230621 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 136230621 136230621 G A SNP SURF4 ENST00000545297 human ensembl 70_37 -1 known missense c.371 p.S124L 0.862 NULL pfam_Surf4 - no_errors SURF4 HGNC ENSG00000148248 8 13 61.90 15 0 0.00 SURF6 6838 genome.wustl.edu 37 9 136201270 136201270 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 136201270 136201270 C G SNP SURF6 ENST00000372022 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.001 NULL pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 41 15 26.79 56 0 0.00 SUSD1 64420 genome.wustl.edu 37 9 114904663 114904663 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 114904663 114904663 C G SNP SUSD1 ENST00000374264 human ensembl 70_37 -1 known missense c.643 p.E215Q 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 32 16 33.33 30 0 0.00 SUSD1 64420 genome.wustl.edu 37 9 114919845 114919845 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 114919845 114919845 C A SNP SUSD1 ENST00000374264 human ensembl 70_37 -1 known missense c.152 p.R51I 0.001 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 26 5 16.13 75 0 0.00 SUSD2 56241 genome.wustl.edu 37 22 24579157 24579157 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24579157 24579157 G T SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known missense c.209 p.G70V 1.000 superfamily_Ig_E-set pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 34 6 15.00 37 0 0.00 SUSD2 56241 genome.wustl.edu 37 22 24579158 24579158 + Silent SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24579158 24579158 A C SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known silent c.210 p.G70 0.995 superfamily_Ig_E-set pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 34 6 15.00 36 0 0.00 SUSD2 56241 genome.wustl.edu 37 22 24582379 24582379 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 24582379 24582379 G C SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known silent c.1638 p.L546 0.993 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 28 13 31.71 65 0 0.00 SUSD3 203328 genome.wustl.edu 37 9 95838224 95838224 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95838224 95838224 G C SNP SUSD3 ENST00000375472 human ensembl 70_37 +1 known missense c.247 p.E83Q 0.009 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 16 11 40.74 32 0 0.00 SUSD3 203328 genome.wustl.edu 37 9 95847264 95847264 + RNA SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 95847264 95847264 G A SNP SUSD3 ENST00000471462 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SUSD3 HGNC ENSG00000157303 43 11 20.37 31 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223395529 223395529 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 223395529 223395529 C G SNP SUSD4 ENST00000478605 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SUSD4 HGNC ENSG00000143502 41 8 16.33 56 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223396682 223396682 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 223396682 223396682 C T SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known silent c.1353 p.E451 0.037 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 73 11 13.10 75 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223396729 223396729 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 223396729 223396729 A C SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.1306 p.S436A 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 19 13 40.62 54 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223396808 223396808 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 223396808 223396808 C G SNP SUSD4 ENST00000483818 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors SUSD4 HGNC ENSG00000143502 58 10 14.71 53 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223402655 223402655 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 223402655 223402655 C T SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.800 p.G267E 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 32 15 31.91 43 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223408322 223408322 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 223408322 223408322 G C SNP SUSD4 ENST00000344029 human ensembl 70_37 -1 known nonsense c.845 p.S282* 0.003 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 27 16 37.21 32 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223441956 223441956 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 223441956 223441956 C G SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.423 p.E141D 0.227 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 175 30 14.56 141 0 0.00 SUSD4 55061 genome.wustl.edu 37 1 223536672 223536672 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 223536672 223536672 C G SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known silent c.96 p.V32 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 50 14 21.88 78 0 0.00 SUV39H1 6839 genome.wustl.edu 37 X 48558713 48558713 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 48558713 48558713 C A SNP SUV39H1 ENST00000337852 human ensembl 70_37 +1 known missense c.430 p.Q144K 0.997 smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 30 31 50.82 69 0 0.00 SUV39H2 79723 genome.wustl.edu 37 10 14938928 14938928 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 14938928 14938928 G A SNP SUV39H2 ENST00000378331 human ensembl 70_37 +1 known missense c.115 p.V39I 0.917 NULL NULL - no_errors SUV39H2 HGNC ENSG00000152455 54 16 22.86 57 0 0.00 SUV39H2 79723 genome.wustl.edu 37 10 14944426 14944426 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 14944426 14944426 A T SNP SUV39H2 ENST00000354919 human ensembl 70_37 +1 known missense c.1148 p.D383V 1.000 pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H2 HGNC ENSG00000152455 12 10 45.45 25 0 0.00 SUV420H1 51111 genome.wustl.edu 37 11 67926451 67926451 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 67926451 67926451 C G SNP SUV420H1 ENST00000304363 human ensembl 70_37 -1 known missense c.1362 p.L454F 0.647 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 22 9 29.03 31 0 0.00 SUV420H1 51111 genome.wustl.edu 37 11 67933407 67933407 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 67933407 67933407 C T SNP SUV420H1 ENST00000402789 human ensembl 70_37 -1 putative missense c.1183 p.E395K 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 29 19 39.58 27 0 0.00 SUV420H2 84787 genome.wustl.edu 37 19 55856064 55856064 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 55856064 55856064 C T SNP SUV420H2 ENST00000402499 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SUV420H2 HGNC ENSG00000133247 95 33 25.78 133 0 0.00 SUV420H2 84787 genome.wustl.edu 37 19 55858727 55858727 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 55858727 55858727 C T SNP SUV420H2 ENST00000255613 human ensembl 70_37 +1 known silent c.1299 p.L433 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 7 7 50.00 16 0 0.00 SUZ12 23512 genome.wustl.edu 37 17 30302566 30302566 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 30302566 30302566 C G SNP SUZ12 ENST00000322652 human ensembl 70_37 +1 known silent c.657 p.L219 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 41 10 19.61 50 0 0.00 SV2A 9900 genome.wustl.edu 37 1 149876728 149876728 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 149876728 149876728 C T SNP SV2A ENST00000369146 human ensembl 70_37 -1 known silent c.2067 p.L689 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC ENSG00000159164 20 8 28.57 41 0 0.00 SV2A 9900 genome.wustl.edu 37 1 149877557 149877557 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 149877557 149877557 G A SNP SV2A ENST00000369146 human ensembl 70_37 -1 known silent c.1920 p.F640 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC ENSG00000159164 19 15 44.12 28 0 0.00 SV2B 9899 genome.wustl.edu 37 15 91835670 91835670 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91835670 91835670 C T SNP SV2B ENST00000330276 human ensembl 70_37 +1 known missense c.1940 p.S647F 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2B HGNC ENSG00000185518 55 18 24.66 97 0 0.00 SV2C 22987 genome.wustl.edu 37 5 75428068 75428068 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 75428068 75428068 G C SNP SV2C ENST00000502798 human ensembl 70_37 +1 known missense c.493 p.D165H 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC ENSG00000122012 62 26 29.55 59 0 0.00 SV2C 22987 genome.wustl.edu 37 5 75580985 75580985 + Splice_Site SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 75580985 75580985 A G SNP SV2C ENST00000502798 human ensembl 70_37 +1 known splice_site c.914-2 e4-2 1.000 - - - no_errors SV2C HGNC ENSG00000122012 97 57 37.01 217 0 0.00 SV2C 22987 genome.wustl.edu 37 5 75581009 75581009 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 75581009 75581009 G A SNP SV2C ENST00000502798 human ensembl 70_37 +1 known silent c.936 p.S312 0.181 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC ENSG00000122012 236 127 34.99 235 0 0.00 SV2C 22987 genome.wustl.edu 37 5 75581692 75581692 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 75581692 75581692 C T SNP SV2C ENST00000502798 human ensembl 70_37 +1 known silent c.1134 p.F378 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC ENSG00000122012 74 16 17.78 133 0 0.00 SV2C 22987 genome.wustl.edu 37 5 75621353 75621353 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 75621353 75621353 G A SNP SV2C ENST00000502798 human ensembl 70_37 +1 known missense c.2165 p.R722Q 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC ENSG00000122012 63 19 23.17 70 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113141679 113141679 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 113141679 113141679 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known silent c.10356 p.L3452 0.190 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 37 9 19.57 58 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113149654 113149654 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 113149654 113149654 G A SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.9971 p.S3324F 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 32 19 37.25 73 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113169315 113169315 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 113169315 113169315 A C SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.8565 p.I2855M 0.564 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 19 15 44.12 38 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113170065 113170065 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 113170065 113170065 G A SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known silent c.7815 p.I2605 0.198 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 38 21 35.59 53 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113170365 113170365 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 113170365 113170365 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.7515 p.L2505F 0.060 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 90 10 10.00 57 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113170526 113170526 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 113170526 113170526 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.7354 p.D2452H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 60 14 18.92 79 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113208160 113208160 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 113208160 113208160 C T SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.4420 p.D1474N 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 22 11 33.33 43 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113217900 113217900 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113217900 113217900 A C SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.3757 p.F1253V 0.997 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 50 23 31.51 84 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113217957 113217957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 113217957 113217957 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.3700 p.E1234Q 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 42 24 36.36 66 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113245917 113245917 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 113245917 113245917 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.993 pfam_Hyalin,pfscan_Hyalin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 29 21 42.00 42 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113261352 113261352 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 113261352 113261352 C T SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known nonsense c.1650 p.W550* 1.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 41 12 22.64 48 0 0.00 SVEP1 79987 genome.wustl.edu 37 9 113312230 113312230 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 113312230 113312230 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.686 p.R229P 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 42 18 30.00 55 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29746346 29746347 + RNA INS - - TGTT TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 29746346 29746347 - TGTT INS SVIL ENST00000497265 human ensembl 70_37 -1 known rna NULL NULL 0.991:0.994 - - - no_errors SVIL HGNC ENSG00000197321 10 4 28.57 8 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29762860 29762860 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 29762860 29762860 G C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.5436 p.V1812 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 33 10 23.26 31 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29783908 29783908 + Missense_Mutation SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 29783908 29783908 A G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.3776 p.M1259T 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 33 12 26.67 24 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29819538 29819538 + Missense_Mutation SNP T T C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 29819538 29819538 T C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.2104 p.R702G 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 23 13 36.11 28 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29821086 29821086 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 29821086 29821086 C T SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.1854 p.E618 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 10 8 44.44 43 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29821682 29821682 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 29821682 29821682 C G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.1614 p.S538 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 84 18 17.65 103 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29822309 29822309 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 29822309 29822309 C G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.987 p.Q329H 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 56 7 11.11 74 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29843713 29843713 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 29843713 29843713 G A SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.159 p.I53 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 22 4 15.38 22 0 0.00 SVIL 6840 genome.wustl.edu 37 10 29843751 29843751 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 29843751 29843751 G C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.121 p.R41G 0.954 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC ENSG00000197321 20 15 42.86 47 0 0.00 SVIP 258010 genome.wustl.edu 37 11 22844582 22844582 + RNA SNP A A G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 22844582 22844582 A G SNP SVIP ENST00000530199 human ensembl 70_37 -1 known rna NULL NULL 0.484 - - - no_errors SVIP HGNC ENSG00000198168 14 7 33.33 12 0 0.00 SVIP 258010 genome.wustl.edu 37 11 22849396 22849396 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 11 22849396 22849396 C A SNP SVIP ENST00000354193 human ensembl 70_37 -1 known nonsense c.79 p.E27* 1.000 NULL NULL - no_errors SVIP HGNC ENSG00000198168 55 18 24.66 109 0 0.00 SVOPL 136306 genome.wustl.edu 37 7 138279227 138279228 + RNA INS - - A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 138279227 138279228 - A INS SVOPL ENST00000463557 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors SVOPL HGNC ENSG00000157703 17 10 37.04 25 0 0.00 SVOPL 136306 genome.wustl.edu 37 7 138341201 138341201 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 138341201 138341201 A G SNP SVOPL ENST00000419765 human ensembl 70_37 -1 known silent c.526 p.L176 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 7 3 30.00 14 0 0.00 SWAP70 23075 genome.wustl.edu 37 11 9749720 9749720 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 9749720 9749720 C T SNP SWAP70 ENST00000318950 human ensembl 70_37 +1 known missense c.763 p.L255F 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 14 7 33.33 16 0 0.00 SWAP70 23075 genome.wustl.edu 37 11 9759861 9759861 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 9759861 9759861 G T SNP SWAP70 ENST00000318950 human ensembl 70_37 +1 known missense c.1182 p.E394D 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 32 4 10.81 21 0 0.00 SWI5 375757 genome.wustl.edu 37 9 131038431 131038431 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131038431 131038431 C T SNP SWI5 ENST00000320188 human ensembl 70_37 +1 known missense c.7 p.R3W 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 27 10 27.03 32 0 0.00 SWI5 375757 genome.wustl.edu 37 9 131038452 131038452 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131038452 131038452 T C SNP SWI5 ENST00000320188 human ensembl 70_37 +1 known missense c.28 p.W10R 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 23 10 30.30 28 0 0.00 SWSAP1 126074 genome.wustl.edu 37 19 11486566 11486566 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 11486566 11486566 G A SNP SWSAP1 ENST00000312423 human ensembl 70_37 +1 known silent c.564 p.G188 0.001 NULL NULL - no_errors SWSAP1 HGNC ENSG00000173928 17 7 29.17 17 0 0.00 SWSAP1 126074 genome.wustl.edu 37 19 11486627 11486627 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 11486627 11486627 C T SNP SWSAP1 ENST00000312423 human ensembl 70_37 +1 known missense c.625 p.P209S 0.012 NULL NULL - no_errors SWSAP1 HGNC ENSG00000173928 28 4 12.50 52 0 0.00 SWT1 54823 genome.wustl.edu 37 1 185130004 185130004 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 185130004 185130004 G C SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known missense c.31 p.E11Q 0.789 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 16 5 23.81 37 0 0.00 SWT1 54823 genome.wustl.edu 37 1 185135765 185135765 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 185135765 185135765 C T SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known missense c.146 p.S49L 0.162 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 25 6 18.75 32 0 0.00 SWT1 54823 genome.wustl.edu 37 1 185175784 185175784 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 185175784 185175784 C T SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known silent c.1861 p.L621 0.998 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 26 20 43.48 31 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110587418 110587418 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 8 110587418 110587418 G T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1709 p.A570E 0.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 33 4 10.81 25 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110587517 110587517 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 110587517 110587517 G A SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1610 p.S537F 0.401 NULL NULL - no_errors SYBU HGNC ENSG00000147642 41 10 19.61 28 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110587800 110587800 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110587800 110587800 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1327 p.D443N 0.989 NULL NULL - no_errors SYBU HGNC ENSG00000147642 25 17 40.48 63 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110587893 110587893 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110587893 110587893 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1234 p.D412N 0.412 NULL NULL - no_errors SYBU HGNC ENSG00000147642 100 32 24.06 36 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110587935 110587935 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110587935 110587935 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1192 p.E398K 0.007 NULL NULL - no_errors SYBU HGNC ENSG00000147642 79 29 26.85 24 0 0.00 SYBU 55638 genome.wustl.edu 37 8 110654959 110654959 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 110654959 110654959 G C SNP SYBU ENST00000276646 human ensembl 70_37 -1 known nonsense c.227 p.S76* 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 51 16 23.88 35 0 0.00 SYCE1 93426 genome.wustl.edu 37 10 135367772 135367772 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 135367772 135367772 G T SNP SYCE1 ENST00000479535 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYCE1 HGNC ENSG00000171772 18 12 40.00 40 0 0.00 SYCE1L 100130958 genome.wustl.edu 37 16 77245136 77245136 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 77245136 77245136 A G SNP SYCE1L ENST00000378644 human ensembl 70_37 +1 known missense c.386 p.D129G 0.011 NULL NULL - no_errors SYCE1L HGNC ENSG00000205078 30 4 11.76 52 0 0.00 SYCP1 6847 genome.wustl.edu 37 1 115398161 115398161 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 115398161 115398161 C G SNP SYCP1 ENST00000369518 human ensembl 70_37 +1 known missense c.76 p.Q26E 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 65 27 29.35 74 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58443602 58443602 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 58443602 58443602 C T SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.3854 p.R1285H 0.055 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 100 19 15.97 75 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58452496 58452496 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 58452496 58452496 C G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.3094 p.E1032Q 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 83 11 11.70 59 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58455490 58455490 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58455490 58455490 C G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.2809 p.D937H 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 22 9 29.03 38 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58489189 58489189 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 58489189 58489189 C A SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.752 p.R251I 0.924 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 20 7 25.93 38 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58496496 58496496 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 20 58496496 58496496 A G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.37 p.C13R 0.980 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 71 13 15.48 81 0 0.00 SYCP2 10388 genome.wustl.edu 37 20 58496531 58496531 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 58496531 58496531 A G SNP SYCP2 ENST00000476314 human ensembl 70_37 -1 putative rna NULL NULL 0.072 - - - no_errors SYCP2 HGNC ENSG00000196074 17 23 57.50 24 0 0.00 SYCP2L 221711 genome.wustl.edu 37 6 10942745 10942745 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 10942745 10942745 G T SNP SYCP2L ENST00000283141 human ensembl 70_37 +1 known missense c.1867 p.D623Y 0.562 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 16 14 46.67 35 0 0.00 SYCP3 50511 genome.wustl.edu 37 12 102131031 102131031 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 102131031 102131031 G T SNP SYCP3 ENST00000266743 human ensembl 70_37 -1 known missense c.179 p.A60E 0.002 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 25 4 13.79 37 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15219962 15219962 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15219962 15219962 G A SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.184 p.E62K 0.862 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 21 15 41.67 33 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15220632 15220632 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 15220632 15220632 G C SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.548 p.R183P 0.458 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 33 7 17.50 25 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15222450 15222450 + Silent SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 15222450 15222450 C G SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1425 p.L475 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 72 14 16.28 86 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15222460 15222460 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 15222460 15222460 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.1435 p.L479F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 58 37 38.95 52 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15223195 15223195 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15223195 15223195 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1617 p.V539 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 47 35 42.68 45 0 0.00 SYDE1 85360 genome.wustl.edu 37 19 15224540 15224540 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 15224540 15224540 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1974 p.C658 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 28 7 20.00 34 0 0.00 SYDE2 84144 genome.wustl.edu 37 1 85630294 85630294 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 85630294 85630294 G C SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known silent c.3000 p.V1000 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 23 7 23.33 27 0 0.00 SYDE2 84144 genome.wustl.edu 37 1 85656076 85656076 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85656076 85656076 C T SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known missense c.1105 p.E369K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 37 17 31.48 39 0 0.00 SYDE2 84144 genome.wustl.edu 37 1 85665949 85665949 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 85665949 85665949 C A SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known missense c.731 p.R244I 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 41 16 28.07 78 0 0.00 SYF2 25949 genome.wustl.edu 37 1 25551554 25551554 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 25551554 25551554 G A SNP SYF2 ENST00000236273 human ensembl 70_37 -1 known missense c.505 p.H169Y 1.000 pfam_mRNA_splic_SYF2 pfam_mRNA_splic_SYF2 - no_errors SYF2 HGNC ENSG00000117614 51 8 13.56 56 0 0.00 SYK 6850 genome.wustl.edu 37 9 93636954 93636954 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 93636954 93636954 G A SNP SYK ENST00000375746 human ensembl 70_37 +1 known missense c.1004 p.G335D 0.947 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 151 70 31.39 327 0 0.00 SYMPK 8189 genome.wustl.edu 37 19 46331136 46331136 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 46331136 46331136 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.2026 p.E676K 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 48 19 28.36 36 0 0.00 SYMPK 8189 genome.wustl.edu 37 19 46332236 46332236 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 46332236 46332236 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known silent c.1977 p.Q659 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 41 33 44.59 93 0 0.00 SYMPK 8189 genome.wustl.edu 37 19 46341781 46341781 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 46341781 46341781 C G SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.1180 p.D394H 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 56 26 31.71 74 0 0.00 SYMPK 8189 genome.wustl.edu 37 19 46347300 46347300 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46347300 46347300 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.835 p.E279K 1.000 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 28 9 24.32 19 0 0.00 SYMPK 8189 genome.wustl.edu 37 19 46352129 46352129 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 46352129 46352129 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.305 p.R102Q 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 80 11 12.09 49 0 0.00 SYN1 6853 genome.wustl.edu 37 X 47432361 47432361 + Splice_Site SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 47432361 47432361 C G SNP SYN1 ENST00000340666 human ensembl 70_37 -1 known splice_site c.1983-1 e13-1 1.000 - - - no_errors SYN1 HGNC ENSG00000008056 64 26 28.89 98 0 0.00 SYN1 6853 genome.wustl.edu 37 X 47435556 47435556 + Missense_Mutation SNP T T G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 47435556 47435556 T G SNP SYN1 ENST00000295987 human ensembl 70_37 -1 known missense c.1132 p.K378Q 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 19 6 24.00 52 0 0.00 SYN1 6853 genome.wustl.edu 37 X 47435781 47435781 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47435781 47435781 C T SNP SYN1 ENST00000295987 human ensembl 70_37 -1 known nonsense c.1005 p.W335* 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 54 15 21.74 90 0 0.00 SYN3 8224 genome.wustl.edu 37 22 32909744 32909744 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 32909744 32909744 C G SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.1678 p.D560H 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 28 6 17.65 34 0 0.00 SYN3 8224 genome.wustl.edu 37 22 32914295 32914295 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 32914295 32914295 G A SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known nonsense c.1345 p.Q449* 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 19 4 17.39 29 0 0.00 SYN3 8224 genome.wustl.edu 37 22 32914306 32914306 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32914306 32914306 G A SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.1334 p.A445V 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 22 6 21.43 43 0 0.00 SYN3 8224 genome.wustl.edu 37 22 32924939 32924939 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 32924939 32924939 C T SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known silent c.1152 p.L384 1.000 pfam_Synapsin_ATP-bd_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 9 10 52.63 19 0 0.00 SYN3 8224 genome.wustl.edu 37 22 33327449 33327449 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 33327449 33327449 C G SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.387 p.L129F 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_fold,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 15 5 25.00 36 0 0.00 SYNC 81493 genome.wustl.edu 37 1 33147407 33147407 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 33147407 33147407 G A SNP SYNC ENST00000373484 human ensembl 70_37 -1 known silent c.1413 p.F471 0.080 NULL pfam_F - no_errors SYNC HGNC ENSG00000162520 70 23 24.73 100 0 0.00 SYNCRIP 10492 genome.wustl.edu 37 6 86324748 86324748 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 86324748 86324748 C G SNP SYNCRIP ENST00000369622 human ensembl 70_37 -1 known missense c.1598 p.R533T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 45 38 45.78 80 0 0.00 SYNCRIP 10492 genome.wustl.edu 37 6 86349998 86349998 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 86349998 86349998 C T SNP SYNCRIP ENST00000369622 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 54 41 43.16 66 0 0.00 SYNDIG1 79953 genome.wustl.edu 37 20 24523745 24523745 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 20 24523745 24523745 C T SNP SYNDIG1 ENST00000376862 human ensembl 70_37 +1 known silent c.12 p.I4 0.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC ENSG00000101463 57 11 16.18 72 0 0.00 SYNDIG1 79953 genome.wustl.edu 37 20 24523867 24523867 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 20 24523867 24523867 C T SNP SYNDIG1 ENST00000376862 human ensembl 70_37 +1 known missense c.134 p.A45V 0.691 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC ENSG00000101463 44 15 25.42 62 0 0.00 SYNDIG1L 646658 genome.wustl.edu 37 14 74876248 74876248 + Nonsense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 74876248 74876248 C T SNP SYNDIG1L ENST00000331628 human ensembl 70_37 -1 known nonsense c.200 p.W67* 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC ENSG00000183379 37 12 24.49 46 0 0.00 SYNDIG1L 646658 genome.wustl.edu 37 14 74876329 74876329 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 74876329 74876329 G C SNP SYNDIG1L ENST00000331628 human ensembl 70_37 -1 known missense c.119 p.S40C 0.940 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC ENSG00000183379 31 13 29.55 64 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152443192 152443192 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 152443192 152443192 C T SNP SYNE1 ENST00000347037 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYNE1 HGNC ENSG00000131018 28 9 24.32 56 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152470698 152470698 + Nonsense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 152470698 152470698 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.24556 p.E8186* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 65 28 30.11 103 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152470759 152470759 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 152470759 152470759 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.24495 p.Q8165 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 75 33 30.56 112 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152510392 152510392 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 6 152510392 152510392 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.23296 p.H7766Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 38 11 22.45 49 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152552684 152552684 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 152552684 152552684 T A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.20881 p.N6961Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 35 16 31.37 42 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152555007 152555007 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 152555007 152555007 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.20621 p.T6874R 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 17 7 29.17 34 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152565761 152565761 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152565761 152565761 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.19603 p.E6535* 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 26 16 38.10 66 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152570389 152570389 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152570389 152570389 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.19479 p.L6493 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 14 11 44.00 42 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152576212 152576212 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 152576212 152576212 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.19273 p.D6425H 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 32 15 31.91 51 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152576221 152576221 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152576221 152576221 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.19264 p.L6422I 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 15 7 31.82 44 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152599269 152599269 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 152599269 152599269 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.18528 p.L6176 0.815 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 23 13 36.11 24 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152599288 152599288 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 152599288 152599288 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.18509 p.R6170K 0.979 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 18 6 25.00 14 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152603026 152603026 + Silent SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 152603026 152603026 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.18297 p.L6099 0.979 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 30 6 16.67 31 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152614828 152614828 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 152614828 152614828 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.17907 p.Q5969 0.998 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 26 10 27.78 60 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152615141 152615141 + Missense_Mutation SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 152615141 152615141 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.17804 p.A5935D 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 30 4 11.76 42 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152639379 152639379 + Missense_Mutation SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 152639379 152639379 T C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.16409 p.D5470G 0.998 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 17 11 39.29 37 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152646242 152646242 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 152646242 152646242 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.15634 p.E5212Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 42 30 41.67 58 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152651255 152651255 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 152651255 152651255 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.14565 p.R4855 0.067 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 14 28 66.67 58 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152652986 152652986 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 152652986 152652986 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.12834 p.L4278 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 25 15 37.50 51 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152655170 152655170 + Missense_Mutation SNP A A C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 152655170 152655170 A C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.12767 p.F4256C 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 130 55 29.73 203 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152671384 152671384 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 152671384 152671384 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.11820 p.Q3940 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 32 15 31.91 48 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152690138 152690138 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 152690138 152690138 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.9776 p.S3259F 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 61 9 12.86 71 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152711581 152711581 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 6 152711581 152711581 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.8011 p.L2671F 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 38 27 41.54 78 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152716766 152716766 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 6 152716766 152716766 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7597 p.E2533K 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 16 8 33.33 33 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152716799 152716799 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 152716799 152716799 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7564 p.D2522N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 21 55 72.37 31 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152716799 152716799 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 152716799 152716799 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7564 p.D2522N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 35 80 69.57 94 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152720920 152720920 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 152720920 152720920 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7068 p.I2356M 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 53 21 28.38 83 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152737793 152737793 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 152737793 152737793 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5779 p.D1927N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 8 5 38.46 40 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152738082 152738082 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 152738082 152738082 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5490 p.L1830F 0.827 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 18 15 45.45 21 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152738138 152738138 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 152738138 152738138 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5434 p.E1812K 0.997 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 9 9 50.00 29 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152746609 152746610 + Frame_Shift_Del DEL GA GA - TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 6 152746609 152746610 GA - DEL SYNE1 ENST00000265368 human ensembl 70_37 -1 known frame_shift_del c.5174_5173 p.V1726fs 0.929:0.933 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 73 10 12.05 81 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152754964 152754964 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 152754964 152754964 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.4427 p.S1476L 0.992 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 15 9 36.00 39 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152763321 152763321 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 152763321 152763321 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.3897 p.A1299 0.002 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 13 5 27.78 27 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152765605 152765605 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152765605 152765605 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.3778 p.E1260* 0.991 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 30 19 38.78 50 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152768678 152768678 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152768678 152768678 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.3584 p.S1195Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 7 12 63.16 22 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152782776 152782776 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 152782776 152782776 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.2350 p.E784Q 0.974 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 25 25 50.00 79 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152783910 152783910 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 152783910 152783910 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.2213 p.S738C 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 86 33 27.73 139 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152787212 152787212 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152787212 152787212 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.1634 p.S545Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 17 14 45.16 40 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152806072 152806072 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 152806072 152806072 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.1083 p.K361 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 61 27 30.68 65 0 0.00 SYNE1 23345 genome.wustl.edu 37 6 152831344 152831344 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152831344 152831344 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.565 p.Q189K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 38 18 32.14 62 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64408787 64408787 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 64408787 64408787 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.334 p.H112Y 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 35 36 50.70 54 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64427501 64427501 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 14 64427501 64427501 G T SNP SYNE2 ENST00000341472 human ensembl 70_37 +1 novel missense c.835 p.V279L 0.011 smart_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SYNE2 HGNC ENSG00000054654 14 5 26.32 20 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64449481 64449481 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 64449481 64449481 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.1970 p.R657I 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 22 10 31.25 38 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64463825 64463825 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 64463825 64463825 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.3101 p.S1034C 0.374 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 16 10 37.04 37 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64468776 64468776 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 64468776 64468776 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.3763 p.D1255H 0.636 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 38 32 45.71 68 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64469664 64469664 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 64469664 64469664 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4013 p.S1338F 0.178 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 16 6 27.27 39 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64473783 64473783 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 64473783 64473783 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4420 p.D1474H 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 16 4 20.00 23 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64473795 64473795 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64473795 64473795 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4432 p.D1478N 0.997 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 34 16 32.00 49 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64473815 64473815 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64473815 64473815 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4452 p.K1484N 0.705 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 39 16 29.09 51 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64473854 64473854 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 64473854 64473854 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4491 p.F1497L 0.257 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 21 4 16.00 24 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64488655 64488655 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 64488655 64488655 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.5433 p.L1811 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 21 3 12.50 23 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64491095 64491095 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 64491095 64491095 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known nonsense c.5758 p.Q1920* 0.477 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 40 21 34.43 87 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64494308 64494308 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64494308 64494308 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.6511 p.L2171 0.997 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 14 3 17.65 22 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64518339 64518339 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 64518339 64518339 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.7708 p.E2570Q 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 38 6 13.64 29 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64518362 64518362 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 64518362 64518362 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.7731 p.L2577F 0.229 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 33 6 15.38 21 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64518990 64518990 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64518990 64518990 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.8359 p.E2787K 0.079 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 133 43 24.43 195 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64519002 64519002 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64519002 64519002 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.8371 p.D2791Y 0.001 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 119 39 24.53 182 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64529495 64529495 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 64529495 64529495 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.10094 p.R3365I 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 12 9 42.86 33 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64532300 64532300 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 64532300 64532300 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.10363 p.E3455Q 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 58 44 43.14 93 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64542813 64542813 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64542813 64542813 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.11017 p.E3673K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 62 20 24.39 77 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64556365 64556365 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 64556365 64556365 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.11744 p.S3915L 0.998 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 67 10 12.99 50 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64564841 64564841 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64564841 64564841 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.12283 p.E4095Q 0.100 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 52 14 21.21 75 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64565537 64565537 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64565537 64565537 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.12379 p.D4127N 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 34 4 10.53 34 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64593093 64593093 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 64593093 64593093 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.13603 p.E4535K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 45 9 16.36 64 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64593336 64593336 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 64593336 64593336 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.13728 p.K4576 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 20 23 53.49 65 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64596563 64596563 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 64596563 64596563 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14083 p.E4695K 0.299 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 49 8 14.04 81 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64599082 64599082 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 64599082 64599082 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14440 p.E4814Q 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 75 25 25.00 69 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64600860 64600860 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64600860 64600860 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14588 p.S4863F 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 12 9 42.86 22 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64608744 64608744 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64608744 64608744 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.15244 p.E5082K 0.934 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 40 12 23.08 61 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64610593 64610593 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 64610593 64610593 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.15410 p.R5137K 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 22 9 29.03 47 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64628920 64628920 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 64628920 64628920 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.16225 p.Q5409E 0.001 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 32 27 45.76 55 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64644154 64644154 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 64644154 64644154 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.17509 p.L5837F 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 41 19 31.67 45 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64653259 64653259 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64653259 64653259 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.17674 p.E5892Q 0.909 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 32 9 21.95 32 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64676741 64676741 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 64676741 64676741 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.18622 p.R6208C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 19 15 44.12 30 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64679634 64679634 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 64679634 64679634 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.18967 p.E6323Q 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 27 24 47.06 30 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64680939 64680939 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64680939 64680939 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.19084 p.E6362K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 16 8 33.33 46 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64685172 64685172 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 64685172 64685172 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.19599 p.L6533 0.485 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 45 6 11.76 38 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64686090 64686090 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 64686090 64686090 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.19822 p.D6608N 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 11 13 54.17 19 0 0.00 SYNE2 23224 genome.wustl.edu 37 14 64691728 64691728 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 64691728 64691728 G T SNP SYNE2 ENST00000554584 human ensembl 70_37 +1 novel nonsense c.20176 p.E6726* 0.000 NULL pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SYNE2 HGNC ENSG00000054654 64 26 28.89 108 0 0.00 SYNE3 161176 genome.wustl.edu 37 14 95898436 95898436 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 95898436 95898436 C T SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.2707 p.E903K 0.997 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 25 6 19.35 50 0 0.00 SYNE3 161176 genome.wustl.edu 37 14 95912341 95912341 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 95912341 95912341 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.1537 p.E513Q 0.956 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 37 6 13.95 27 0 0.00 SYNE3 161176 genome.wustl.edu 37 14 95916270 95916270 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 95916270 95916270 C A SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known nonsense c.1447 p.E483* 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 101 38 27.34 140 0 0.00 SYNE3 161176 genome.wustl.edu 37 14 95932321 95932321 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 95932321 95932321 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.574 p.D192H 0.097 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 32 14 30.43 45 0 0.00 SYNE3 161176 genome.wustl.edu 37 14 95932372 95932372 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 95932372 95932372 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.523 p.E175Q 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 45 19 29.69 37 0 0.00 SYNE4 163183 genome.wustl.edu 37 19 36497520 36497520 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36497520 36497520 C T SNP SYNE4 ENST00000324444 human ensembl 70_37 -1 known silent c.672 p.S224 0.000 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 50 14 21.54 56 0 0.00 SYNGAP1 8831 genome.wustl.edu 37 6 33391280 33391280 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33391280 33391280 A T SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.94 p.T32S 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 57 7 10.94 68 0 0.00 SYNGAP1 8831 genome.wustl.edu 37 6 33391367 33391367 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 33391367 33391367 G C SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.181 p.E61Q 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 24 14 36.84 97 0 0.00 SYNGAP1 8831 genome.wustl.edu 37 6 33402938 33402938 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33402938 33402938 G A SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known silent c.519 p.L173 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 151 36 19.25 247 0 0.00 SYNGAP1 8831 genome.wustl.edu 37 6 33403358 33403358 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33403358 33403358 G C SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 10 15 60.00 12 0 0.00 SYNGAP1 8831 genome.wustl.edu 37 6 33420137 33420137 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33420137 33420137 C T SNP SYNGAP1 ENST00000496374 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SYNGAP1 HGNC ENSG00000197283 11 4 26.67 18 0 0.00 SYNGR1 9145 genome.wustl.edu 37 22 39770506 39770506 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 39770506 39770506 C G SNP SYNGR1 ENST00000328933 human ensembl 70_37 +1 known missense c.285 p.I95M 1.000 pfam_MARVEL-like_dom,pirsf_Synaptogyrin pfam_MARVEL-like_dom,pirsf_Synaptogyrin - no_errors SYNGR1 HGNC ENSG00000100321 58 44 43.14 36 0 0.00 SYNGR2 9144 genome.wustl.edu 37 17 76167900 76167900 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 76167900 76167900 G A SNP SYNGR2 ENST00000588282 human ensembl 70_37 +1 putative missense c.647 p.R216Q 0.000 NULL pfam_MARVEL-like_dom - no_errors SYNGR2 HGNC ENSG00000108639 28 43 60.56 38 0 0.00 SYNGR4 23546 genome.wustl.edu 37 19 48869139 48869139 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 48869139 48869139 G A SNP SYNGR4 ENST00000344846 human ensembl 70_37 +1 known missense c.40 p.E14K 0.879 pirsf_Synaptogyrin pfam_MARVEL-like_dom,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 64 17 20.99 144 1 0.69 SYNJ1 8867 genome.wustl.edu 37 21 34072399 34072399 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 34072399 34072399 A C SNP SYNJ1 ENST00000433931 human ensembl 70_37 -1 known missense c.345 p.H115Q 1.000 pfam_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 14 3 17.65 33 0 0.00 SYNJ1 8867 genome.wustl.edu 37 21 34099122 34099122 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 34099122 34099122 C G SNP SYNJ1 ENST00000433931 human ensembl 70_37 -1 known missense c.202 p.E68Q 1.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 16 18 52.94 41 0 0.00 SYNJ2 8871 genome.wustl.edu 37 6 158487619 158487619 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 158487619 158487619 G C SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known missense c.1669 p.D557H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 85 67 44.08 95 0 0.00 SYNJ2 8871 genome.wustl.edu 37 6 158492661 158492661 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158492661 158492661 G A SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known silent c.1968 p.T656 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 23 4 14.81 15 0 0.00 SYNJ2 8871 genome.wustl.edu 37 6 158492751 158492751 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 158492751 158492751 G C SNP SYNJ2 ENST00000355585 human ensembl 70_37 +1 known silent c.2058 p.L686 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 11 12 52.17 18 0 0.00 SYNJ2 8871 genome.wustl.edu 37 6 158508008 158508009 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158508008 158508009 - C INS SYNJ2 ENST00000355585 human ensembl 70_37 +1 known frame_shift_ins c.3330_3331 p.P1113fs 1.000:1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 38 9 19.15 49 0 0.00 SYNJ2BP 55333 genome.wustl.edu 37 14 70839334 70839334 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 14 70839334 70839334 C T SNP SYNJ2BP ENST00000554216 human ensembl 70_37 -1 putative rna NULL NULL 0.782 - - - no_errors SYNJ2BP HGNC ENSG00000213463 10 9 47.37 21 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99666966 99666966 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 99666966 99666966 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known silent c.972 p.I324 0.684 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 26 15 36.59 31 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99670051 99670051 + Missense_Mutation SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 99670051 99670051 C G SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.1483 p.L495V 0.000 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 41 19 31.67 59 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99670265 99670265 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 99670265 99670265 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.1697 p.P566L 0.000 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 32 4 11.11 43 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99671795 99671795 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 99671795 99671795 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3227 p.S1076L 0.003 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 44 8 15.38 87 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99671977 99671977 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 99671977 99671977 G C SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3409 p.E1137Q 0.996 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 22 4 15.38 36 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99672256 99672256 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 99672256 99672256 G A SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3688 p.E1230K 0.000 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 19 5 20.83 18 0 0.00 SYNM 23336 genome.wustl.edu 37 15 99673536 99673536 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 99673536 99673536 G A SNP SYNM ENST00000558420 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYNM HGNC ENSG00000182253 24 9 27.27 31 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 149997971 149997971 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149997971 149997971 C A SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.42 p.S14R 0.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 19 13 40.62 21 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 150028172 150028172 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 150028172 150028172 C G SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1067 p.S356C 0.020 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 221 103 31.79 266 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 150028582 150028582 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 5 150028582 150028582 G T SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1477 p.G493W 0.037 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 39 10 20.41 76 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 150028756 150028756 + Missense_Mutation SNP T T C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 150028756 150028756 T C SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1651 p.S551P 0.122 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 36 9 20.00 42 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 150029188 150029188 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 150029188 150029188 G A SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.2083 p.E695K 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 22 3 12.00 24 0 0.00 SYNPO 11346 genome.wustl.edu 37 5 150029366 150029366 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 150029366 150029366 C T SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.2261 p.S754L 0.999 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 18 14 43.75 38 0 0.00 SYNPO2 171024 genome.wustl.edu 37 4 119951944 119951944 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 119951944 119951944 G C SNP SYNPO2 ENST00000307142 human ensembl 70_37 +1 known missense c.2014 p.E672Q 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 10 9 47.37 21 0 0.00 SYNPO2 171024 genome.wustl.edu 37 4 119952442 119952442 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 119952442 119952442 C T SNP SYNPO2 ENST00000307142 human ensembl 70_37 +1 known nonsense c.2512 p.Q838* 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 25 7 21.88 28 0 0.00 SYNPO2 171024 genome.wustl.edu 37 4 119952562 119952562 + Frame_Shift_Del DEL A A - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 119952562 119952562 A - DEL SYNPO2 ENST00000307142 human ensembl 70_37 +1 known frame_shift_del c.2632 p.R879fs 0.999 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 17 3 15.00 26 0 0.00 SYNPO2 171024 genome.wustl.edu 37 4 119958343 119958343 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 119958343 119958343 G A SNP SYNPO2 ENST00000434046 human ensembl 70_37 +1 known silent c.3329 p.*1110 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 6 16 72.73 26 0 0.00 SYNPO2L 79933 genome.wustl.edu 37 10 75406540 75406540 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 75406540 75406540 C T SNP SYNPO2L ENST00000394810 human ensembl 70_37 -1 known missense c.2870 p.R957Q 0.011 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 28 23 45.10 66 0 0.00 SYNPO2L 79933 genome.wustl.edu 37 10 75407373 75407373 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 75407373 75407373 G C SNP SYNPO2L ENST00000394810 human ensembl 70_37 -1 known silent c.2037 p.L679 0.959 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 27 10 27.03 33 0 0.00 SYNPR 132204 genome.wustl.edu 37 3 63601102 63601102 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 63601102 63601102 C G SNP SYNPR ENST00000478300 human ensembl 70_37 +1 known nonsense c.803 p.S268* 0.534 NULL pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 47 12 20.34 29 0 0.00 SYNRG 11276 genome.wustl.edu 37 17 35879064 35879064 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 35879064 35879064 G A SNP SYNRG ENST00000339208 human ensembl 70_37 -1 known silent c.3924 p.L1308 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 20 8 28.57 34 0 0.00 SYNRG 11276 genome.wustl.edu 37 17 35879070 35879070 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 35879070 35879070 A G SNP SYNRG ENST00000339208 human ensembl 70_37 -1 known silent c.3918 p.P1306 0.966 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 24 5 17.24 53 0 0.00 SYP 6855 genome.wustl.edu 37 X 49054176 49054176 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49054176 49054176 G A SNP SYP ENST00000263233 human ensembl 70_37 -1 known silent c.225 p.F75 1.000 pfam_MARVEL-like_dom,prints_Synaptophysin/porin pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 23 20 46.51 63 0 0.00 SYPL1 6856 genome.wustl.edu 37 7 105739677 105739677 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 105739677 105739677 C T SNP SYPL1 ENST00000011473 human ensembl 70_37 -1 known missense c.175 p.E59K 0.909 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYPL1 HGNC ENSG00000008282 39 15 27.78 38 0 0.00 SYS1 90196 genome.wustl.edu 37 20 43994170 43994170 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 43994170 43994170 G C SNP SYS1 ENST00000479779 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors SYS1 HGNC ENSG00000204070 109 32 22.70 109 0 0.00 SYS1 90196 genome.wustl.edu 37 20 43995671 43995671 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 43995671 43995671 C T SNP SYS1 ENST00000243918 human ensembl 70_37 +1 known silent c.387 p.L129 1.000 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 - no_errors SYS1 HGNC ENSG00000204070 142 25 14.97 180 0 0.00 SYS1 90196 genome.wustl.edu 37 20 43995845 43995845 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 43995845 43995845 G A SNP SYS1 ENST00000479779 human ensembl 70_37 +1 known rna NULL NULL 0.945 - - - no_errors SYS1 HGNC ENSG00000204070 36 15 29.41 71 0 0.00 SYS1 90196 genome.wustl.edu 37 20 43995845 43995845 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 43995845 43995845 G C SNP SYS1 ENST00000479779 human ensembl 70_37 +1 known rna NULL NULL 0.945 - - - no_errors SYS1 HGNC ENSG00000204070 48 13 21.31 49 0 0.00 SYT1 6857 genome.wustl.edu 37 12 79685803 79685803 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 79685803 79685803 G A SNP SYT1 ENST00000261205 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 51 19 27.14 48 0 0.00 SYT1 6857 genome.wustl.edu 37 12 79747354 79747354 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 79747354 79747354 C A SNP SYT1 ENST00000261205 human ensembl 70_37 +1 known missense c.883 p.L295M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 257 83 24.34 383 1 0.26 SYT10 341359 genome.wustl.edu 37 12 33529812 33529812 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 33529812 33529812 C G SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 18 4 18.18 27 0 0.00 SYT10 341359 genome.wustl.edu 37 12 33559988 33559988 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 33559988 33559988 C T SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 21 8 27.59 23 0 0.00 SYT10 341359 genome.wustl.edu 37 12 33579277 33579277 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 33579277 33579277 C G SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known missense c.305 p.S102T 0.979 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 41 13 24.07 56 0 0.00 SYT11 23208 genome.wustl.edu 37 1 155838304 155838304 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155838304 155838304 G C SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.583 p.D195H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 28 9 24.32 28 0 0.00 SYT11 23208 genome.wustl.edu 37 1 155851212 155851212 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851212 155851212 C G SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known silent c.1209 p.V403 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 22 22 50.00 33 0 0.00 SYT11 23208 genome.wustl.edu 37 1 155851228 155851228 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 155851228 155851228 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.1225 p.E409K 0.773 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 31 11 26.19 39 0 0.00 SYT11 23208 genome.wustl.edu 37 1 155851247 155851247 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851247 155851247 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.1244 p.C415Y 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 29 15 34.09 34 0 0.00 SYT11 23208 genome.wustl.edu 37 1 155851251 155851251 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155851251 155851251 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known silent c.1248 p.E416 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 29 14 32.56 34 0 0.00 SYT12 91683 genome.wustl.edu 37 11 66802123 66802123 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 11 66802123 66802123 G C SNP SYT12 ENST00000393946 human ensembl 70_37 +1 known missense c.42 p.K14N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT12 HGNC ENSG00000173227 35 15 30.00 72 0 0.00 SYT12 91683 genome.wustl.edu 37 11 66807534 66807534 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 66807534 66807534 G C SNP SYT12 ENST00000393946 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT12 HGNC ENSG00000173227 35 26 42.62 70 0 0.00 SYT13 57586 genome.wustl.edu 37 11 45274066 45274066 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 45274066 45274066 C T SNP SYT13 ENST00000020926 human ensembl 70_37 -1 known missense c.752 p.R251H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT13 HGNC ENSG00000019505 26 7 21.21 30 0 0.00 SYT13 57586 genome.wustl.edu 37 11 45275950 45275950 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 45275950 45275950 C G SNP SYT13 ENST00000020926 human ensembl 70_37 -1 known missense c.415 p.V139L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT13 HGNC ENSG00000019505 39 6 13.33 47 0 0.00 SYT14 255928 genome.wustl.edu 37 1 210111619 210111619 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 210111619 210111619 G C SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.24 p.L8F 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC ENSG00000143469 80 20 20.00 68 0 0.00 SYT14 255928 genome.wustl.edu 37 1 210126072 210126072 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 210126072 210126072 G A SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC ENSG00000143469 33 24 42.11 63 0 0.00 SYT14 255928 genome.wustl.edu 37 1 210194437 210194437 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 210194437 210194437 G A SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC ENSG00000143469 75 17 18.48 45 0 0.00 SYT16 83851 genome.wustl.edu 37 14 62536415 62536415 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 62536415 62536415 G C SNP SYT16 ENST00000446982 human ensembl 70_37 +1 known missense c.618 p.Q206H 1.000 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 34 27 44.26 37 0 0.00 SYT16 83851 genome.wustl.edu 37 14 62550973 62550973 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 62550973 62550973 G A SNP SYT16 ENST00000430451 human ensembl 70_37 +1 novel silent c.1494 p.T498 0.937 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT16 HGNC ENSG00000139973 37 8 17.78 68 0 0.00 SYT16 83851 genome.wustl.edu 37 14 62567172 62567172 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62567172 62567172 C T SNP SYT16 ENST00000430451 human ensembl 70_37 +1 novel missense c.1685 p.T562M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT16 HGNC ENSG00000139973 22 20 47.62 59 0 0.00 SYT17 51760 genome.wustl.edu 37 16 19236108 19236108 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 19236108 19236108 C T SNP SYT17 ENST00000355377 human ensembl 70_37 +1 known silent c.1176 p.F392 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 20 13 39.39 40 0 0.00 SYT3 84258 genome.wustl.edu 37 19 51128796 51128796 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 51128796 51128796 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1428 p.I476 0.999 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 53 20 27.40 48 0 0.00 SYT3 84258 genome.wustl.edu 37 19 51128817 51128817 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 51128817 51128817 G T SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1407 p.P469 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 15 4 21.05 20 0 0.00 SYT3 84258 genome.wustl.edu 37 19 51132566 51132566 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 51132566 51132566 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1266 p.I422 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 6 9 60.00 26 0 0.00 SYT3 84258 genome.wustl.edu 37 19 51132706 51132706 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51132706 51132706 C A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known nonsense c.1126 p.E376* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 48 17 26.15 64 0 0.00 SYT3 84258 genome.wustl.edu 37 19 51133404 51133404 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51133404 51133404 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.699 p.L233 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 28 9 24.32 29 0 0.00 SYT4 6860 genome.wustl.edu 37 18 40849933 40849933 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 40849933 40849933 G T SNP SYT4 ENST00000586678 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYT4 HGNC ENSG00000132872 15 4 21.05 19 0 0.00 SYT4 6860 genome.wustl.edu 37 18 40850554 40850554 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 18 40850554 40850554 G A SNP SYT4 ENST00000255224 human ensembl 70_37 -1 known missense c.1030 p.H344Y 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 12 43 78.18 83 0 0.00 SYT4 6860 genome.wustl.edu 37 18 40851809 40851809 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 40851809 40851809 G C SNP SYT4 ENST00000589479 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYT4 HGNC ENSG00000132872 83 25 23.15 112 0 0.00 SYT4 6860 genome.wustl.edu 37 18 40853812 40853812 + Silent SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 18 40853812 40853812 G T SNP SYT4 ENST00000255224 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 39 35 46.67 50 0 0.00 SYT4 6860 genome.wustl.edu 37 18 40854012 40854012 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 40854012 40854012 C A SNP SYT4 ENST00000255224 human ensembl 70_37 -1 known nonsense c.382 p.E128* 0.986 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 21 11 34.38 24 0 0.00 SYT5 6861 genome.wustl.edu 37 19 55689700 55689700 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55689700 55689700 G C SNP SYT5 ENST00000354308 human ensembl 70_37 -1 known nonsense c.116 p.S39* 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 31 14 31.11 32 0 0.00 SYT5 6861 genome.wustl.edu 37 19 55690439 55690439 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 55690439 55690439 G C SNP SYT5 ENST00000590851 human ensembl 70_37 -1 novel silent c.135 p.L45 0.003 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 46 27 36.99 104 0 0.00 SYT6 148281 genome.wustl.edu 37 1 114640467 114640467 + Missense_Mutation SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 114640467 114640467 C T SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.1397 p.R466H 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC ENSG00000134207 44 12 21.43 54 0 0.00 SYT6 148281 genome.wustl.edu 37 1 114680163 114680163 + Missense_Mutation SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 114680163 114680163 A G SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.1025 p.L342P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC ENSG00000134207 23 6 20.69 24 0 0.00 SYT6 148281 genome.wustl.edu 37 1 114680230 114680230 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 114680230 114680230 C G SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.958 p.D320H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC ENSG00000134207 17 21 55.26 38 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61291299 61291299 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 61291299 61291299 C A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.907 p.D303Y 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 72 48 40.00 88 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61291312 61291312 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 61291312 61291312 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 56 25 30.86 91 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61291945 61291945 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 61291945 61291945 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.682 p.R228C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 36 12 25.00 30 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61291945 61291945 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 61291945 61291945 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.682 p.R228C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 44 23 34.33 55 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 61300491 61300491 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.321 p.L107 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 71 15 17.44 97 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61300491 61300491 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.321 p.L107 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 27 6 18.18 30 0 0.00 SYT7 9066 genome.wustl.edu 37 11 61323615 61323615 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61323615 61323615 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.96 p.V32 0.999 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 26 15 36.59 79 0 0.00 SYT8 90019 genome.wustl.edu 37 11 1852698 1852698 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 1852698 1852698 C G SNP SYT8 ENST00000535046 human ensembl 70_37 +1 known missense c.16 p.P6A 0.000 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 44 8 15.38 56 0 0.00 SYT8 90019 genome.wustl.edu 37 11 1853069 1853069 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1853069 1853069 C T SNP SYT8 ENST00000535046 human ensembl 70_37 +1 known silent c.387 p.F129 0.000 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 41 43 51.19 80 0 0.00 SYT9 143425 genome.wustl.edu 37 11 7324578 7324578 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 7324578 7324578 G A SNP SYT9 ENST00000318881 human ensembl 70_37 +1 known missense c.454 p.V152I 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 20 9 31.03 13 0 0.00 SYT9 143425 genome.wustl.edu 37 11 7439255 7439255 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 7439255 7439255 G C SNP SYT9 ENST00000318881 human ensembl 70_37 +1 known missense c.1233 p.K411N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 26 7 21.21 69 0 0.00 SYTL1 84958 genome.wustl.edu 37 1 27676639 27676639 + RNA SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 27676639 27676639 G T SNP SYTL1 ENST00000490170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 32 4 11.11 32 0 0.00 SYTL1 84958 genome.wustl.edu 37 1 27677685 27677685 + RNA SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 27677685 27677685 G C SNP SYTL1 ENST00000490170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 27 19 41.30 95 0 0.00 SYTL1 84958 genome.wustl.edu 37 1 27678211 27678211 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 27678211 27678211 G C SNP SYTL1 ENST00000475199 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 26 10 27.78 36 0 0.00 SYTL1 84958 genome.wustl.edu 37 1 27679598 27679598 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 27679598 27679598 C T SNP SYTL1 ENST00000475199 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SYTL1 HGNC ENSG00000142765 14 4 22.22 19 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85407429 85407429 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 85407429 85407429 G T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.4994 p.T1665N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 14 3 17.65 28 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85422265 85422265 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 85422265 85422265 C T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.4259 p.R1420K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 5 14 73.68 43 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85435165 85435165 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 85435165 85435165 C T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3907 p.E1303K 0.853 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 45 28 38.36 76 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85435306 85435306 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 85435306 85435306 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known nonsense c.3766 p.Q1256* 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 37 10 21.28 34 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85435387 85435387 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 85435387 85435387 C T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3685 p.E1229K 0.151 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 37 13 26.00 43 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85435824 85435824 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 85435824 85435824 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3248 p.S1083L 0.001 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 54 9 14.29 44 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85435827 85435827 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 85435827 85435827 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3245 p.P1082L 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 41 27 39.71 69 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85436841 85436841 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 85436841 85436841 G T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.2231 p.P744H 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 26 12 31.58 55 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85436849 85436849 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 85436849 85436849 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known silent c.2223 p.V741 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 26 10 27.78 55 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85437315 85437315 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 85437315 85437315 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.1757 p.S586L 0.081 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 69 25 26.60 51 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85438776 85438776 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 85438776 85438776 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.296 p.P99L 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 60 20 25.00 114 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85438850 85438850 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 85438850 85438850 A G SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known silent c.222 p.D74 0.997 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 45 15 25.00 80 0 0.00 SYTL2 54843 genome.wustl.edu 37 11 85445564 85445564 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 85445564 85445564 G A SNP SYTL2 ENST00000316356 human ensembl 70_37 -1 known missense c.808 p.P270S 0.988 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL2 HGNC ENSG00000137501 76 21 21.65 69 0 0.00 SYTL3 94120 genome.wustl.edu 37 6 159183155 159183155 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 159183155 159183155 G T SNP SYTL3 ENST00000297239 human ensembl 70_37 +1 known nonsense c.1462 p.G488* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL3 HGNC ENSG00000164674 33 4 10.81 69 0 0.00 SYTL4 94121 genome.wustl.edu 37 X 99930370 99930370 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 99930370 99930370 G T SNP SYTL4 ENST00000491602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYTL4 HGNC ENSG00000102362 21 9 30.00 66 0 0.00 SYTL4 94121 genome.wustl.edu 37 X 99931137 99931137 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 99931137 99931137 G A SNP SYTL4 ENST00000454200 human ensembl 70_37 -1 known missense c.1910 p.S637L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 63 16 20.25 50 0 0.00 SYTL4 94121 genome.wustl.edu 37 X 99955937 99955937 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 99955937 99955937 G A SNP SYTL4 ENST00000454200 human ensembl 70_37 -1 known silent c.495 p.I165 0.826 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 87 31 26.27 105 1 0.94 SYVN1 84447 genome.wustl.edu 37 11 64896206 64896206 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 64896206 64896206 G C SNP SYVN1 ENST00000527765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYVN1 HGNC ENSG00000162298 39 31 44.29 38 0 0.00 SYVN1 84447 genome.wustl.edu 37 11 64897750 64897750 + Missense_Mutation SNP C C A TCGA-C5-A2LV-01A-11D-A18J-09 TCGA-C5-A2LV-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3269608c-5dd7-452a-976a-31ac971aac2f 28fa35ae-f144-4ef0-918e-fe72471c8101 11 64897750 64897750 C A SNP SYVN1 ENST00000377190 human ensembl 70_37 -1 known missense c.1207 p.A403S 0.973 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 26 3 10.34 21 0 0.00 SZRD1 26099 genome.wustl.edu 37 1 16714140 16714140 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16714140 16714140 T C SNP SZRD1 ENST00000476423 human ensembl 70_37 +1 known missense c.188 p.L63P 0.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 15 13 46.43 38 0 0.00 SZRD1 26099 genome.wustl.edu 37 1 16719862 16719862 + Missense_Mutation SNP C C A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 16719862 16719862 C A SNP SZRD1 ENST00000375590 human ensembl 70_37 +1 known missense c.181 p.P61T 1.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 48 7 12.73 35 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43886618 43886618 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 43886618 43886618 C G SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.1460 p.T487S 0.999 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 182 28 13.33 233 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43895462 43895462 + Missense_Mutation SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 43895462 43895462 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.4084 p.D1362N 0.990 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 29 10 25.64 39 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43898052 43898052 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 43898052 43898052 C G SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.5213 p.S1738C 0.205 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 5 30 85.71 35 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43908244 43908244 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 43908244 43908244 C T SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known silent c.7935 p.L2645 0.950 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 24 3 11.11 14 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43911609 43911609 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 43911609 43911609 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.8699 p.R2900Q 0.987 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 38 23 37.70 64 0 0.00 SZT2 23334 genome.wustl.edu 37 1 43914344 43914344 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 43914344 43914344 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.9860 p.R3287H 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 24 8 25.00 35 0 0.00 T 6862 genome.wustl.edu 37 6 166571847 166571847 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 6 166571847 166571847 G A SNP T ENST00000296946 human ensembl 70_37 -1 known missense c.1264 p.R422C 0.893 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC ENSG00000164458 40 15 26.79 38 0 0.00 T 6862 genome.wustl.edu 37 6 166579199 166579199 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 166579199 166579199 C T SNP T ENST00000296946 human ensembl 70_37 -1 known missense c.601 p.E201K 0.963 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC ENSG00000164458 44 22 33.33 43 0 0.00 T 6862 genome.wustl.edu 37 6 166580205 166580205 + Missense_Mutation SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 6 166580205 166580205 C G SNP T ENST00000296946 human ensembl 70_37 -1 known missense c.346 p.E116Q 0.057 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC ENSG00000164458 55 23 29.49 64 0 0.00 T 6862 genome.wustl.edu 37 6 166580885 166580885 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 166580885 166580885 G C SNP T ENST00000296946 human ensembl 70_37 -1 known silent c.195 p.T65 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC ENSG00000164458 17 4 19.05 36 0 0.00 TAAR1 134864 genome.wustl.edu 37 6 132966947 132966947 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 132966947 132966947 C T SNP TAAR1 ENST00000275216 human ensembl 70_37 -1 known missense c.196 p.A66T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt - no_errors TAAR1 HGNC ENSG00000146399 62 14 18.42 48 0 0.00 TAAR2 9287 genome.wustl.edu 37 6 132938869 132938869 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132938869 132938869 A G SNP TAAR2 ENST00000367931 human ensembl 70_37 -1 known missense c.476 p.V159A 0.050 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 4 5 55.56 13 0 0.00 TAAR2 9287 genome.wustl.edu 37 6 132939229 132939229 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132939229 132939229 G T SNP TAAR2 ENST00000367931 human ensembl 70_37 -1 known missense c.116 p.S39Y 0.020 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 17 15 46.88 29 0 0.00 TAAR5 9038 genome.wustl.edu 37 6 132910460 132910460 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 132910460 132910460 G A SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known silent c.366 p.I122 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 98 28 22.22 147 0 0.00 TAAR5 9038 genome.wustl.edu 37 6 132910643 132910643 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 132910643 132910643 G T SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known nonsense c.183 p.Y61* 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Trace_amine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 14 3 17.65 38 0 0.00 TAAR5 9038 genome.wustl.edu 37 6 132910798 132910798 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 132910798 132910798 C T SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known missense c.28 p.E10K 0.065 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 34 8 19.05 58 0 0.00 TAAR8 83551 genome.wustl.edu 37 6 132874749 132874749 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132874749 132874749 T C SNP TAAR8 ENST00000275200 human ensembl 70_37 +1 known silent c.918 p.N306 0.538 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR8 HGNC ENSG00000146385 46 14 23.33 63 0 0.00 TAB2 23118 genome.wustl.edu 37 6 149699241 149699241 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 149699241 149699241 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.190 p.D64H 0.998 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 23 13 36.11 26 0 0.00 TAB2 23118 genome.wustl.edu 37 6 149699569 149699569 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 149699569 149699569 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.518 p.R173T 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 7 11 61.11 20 0 0.00 TAB2 23118 genome.wustl.edu 37 6 149700292 149700292 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 149700292 149700292 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.1241 p.G414A 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 38 10 20.83 42 0 0.00 TAB2 23118 genome.wustl.edu 37 6 149719189 149719189 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 149719189 149719189 C G SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.1849 p.Q617E 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 17 4 19.05 18 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30864732 30864732 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 30864732 30864732 C G SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1740 p.M580I 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 67 16 19.28 95 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30870896 30870896 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 30870896 30870896 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1709 p.T570M 0.997 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 9 21 70.00 27 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30872356 30872356 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 30872356 30872356 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1426 p.R476C 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 59 11 15.71 110 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30872550 30872550 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 30872550 30872550 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1232 p.S411L 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 84 15 15.15 108 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30872913 30872913 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 30872913 30872913 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.869 p.S290F 0.973 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 23 27 54.00 89 0 0.00 TAB3 257397 genome.wustl.edu 37 X 30877610 30877610 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 30877610 30877610 C T SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.96 p.M32I 1.000 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 79 12 13.04 61 0 0.00 TACC1 6867 genome.wustl.edu 37 8 38677586 38677586 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 38677586 38677586 C G SNP TACC1 ENST00000379931 human ensembl 70_37 +1 known missense c.824 p.T275R 0.000 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 48 54 52.94 87 0 0.00 TACC1 6867 genome.wustl.edu 37 8 38684717 38684717 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 38684717 38684717 A C SNP TACC1 ENST00000379931 human ensembl 70_37 +1 known missense c.1520 p.D507A 0.997 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 16 16 50.00 43 0 0.00 TACC2 10579 genome.wustl.edu 37 10 123969978 123969978 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 123969978 123969978 T C SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.6038 p.F2013S 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 24 14 36.84 57 0 0.00 TACC2 10579 genome.wustl.edu 37 10 124009176 124009176 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 124009176 124009176 G C SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.8778 p.Q2926H 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 41 20 32.79 84 0 0.00 TACC2 10579 genome.wustl.edu 37 10 124013521 124013521 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 124013521 124013521 G A SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.8797 p.E2933K 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 16 14 46.67 34 0 0.00 TACC3 10460 genome.wustl.edu 37 4 1730122 1730122 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 1730122 1730122 G C SNP TACC3 ENST00000313288 human ensembl 70_37 +1 known silent c.993 p.S331 0.000 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 37 8 17.78 54 0 0.00 TACC3 10460 genome.wustl.edu 37 4 1732898 1732899 + Frame_Shift_Ins INS - - GAGA TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 1732898 1732899 - GAGA INS TACC3 ENST00000313288 human ensembl 70_37 +1 known frame_shift_ins c.1463_1462 p.A490fs 0.082:0.084 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 193 43 18.22 184 0 0.00 TACC3 10460 genome.wustl.edu 37 4 1742569 1742569 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 1742569 1742569 G A SNP TACC3 ENST00000313288 human ensembl 70_37 +1 known silent c.2079 p.Q693 1.000 pfam_TACC pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 32 5 13.51 33 0 0.00 TACC3 10460 genome.wustl.edu 37 4 1746446 1746446 + Nonsense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 1746446 1746446 G T SNP TACC3 ENST00000313288 human ensembl 70_37 +1 known nonsense c.2338 p.E780* 1.000 pfam_TACC pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 18 10 35.71 31 0 0.00 TACO1 51204 genome.wustl.edu 37 17 61685348 61685348 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 61685348 61685348 G A SNP TACO1 ENST00000258975 human ensembl 70_37 +1 known missense c.880 p.D294N 1.000 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC ENSG00000136463 51 9 15.00 43 0 0.00 TACR1 6869 genome.wustl.edu 37 2 75280790 75280790 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 75280790 75280790 C G SNP TACR1 ENST00000305249 human ensembl 70_37 -1 known missense c.677 p.S226T 1.000 pfam_GPCR_Rhodpsn,prints_Neurokn_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TACR1 HGNC ENSG00000115353 43 9 17.31 46 0 0.00 TACR2 6865 genome.wustl.edu 37 10 71164665 71164665 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 71164665 71164665 C G SNP TACR2 ENST00000373306 human ensembl 70_37 -1 known missense c.1114 p.E372Q 0.624 prints_NK2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 21 13 38.24 35 0 0.00 TACR2 6865 genome.wustl.edu 37 10 71168822 71168822 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 71168822 71168822 G A SNP TACR2 ENST00000373306 human ensembl 70_37 -1 known silent c.597 p.L199 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 53 12 18.18 85 0 0.00 TACR3 6870 genome.wustl.edu 37 4 104640293 104640293 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 104640293 104640293 C T SNP TACR3 ENST00000304883 human ensembl 70_37 -1 known silent c.540 p.A180 0.442 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 26 10 27.78 46 0 0.00 TACSTD2 4070 genome.wustl.edu 37 1 59042151 59042151 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 59042151 59042151 G A SNP TACSTD2 ENST00000371225 human ensembl 70_37 -1 known silent c.678 p.F226 0.995 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 31 9 22.50 25 0 0.00 TADA1 117143 genome.wustl.edu 37 1 166833160 166833160 + Splice_Site SNP T T A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 166833160 166833160 T A SNP TADA1 ENST00000367874 human ensembl 70_37 -1 known splice_site c.233-2 e4-2 0.991 - - - no_errors TADA1 HGNC ENSG00000152382 19 5 20.83 18 0 0.00 TADA2A 6871 genome.wustl.edu 37 17 35783680 35783680 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 35783680 35783680 G A SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known missense c.97 p.E33K 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 20 5 20.00 43 0 0.00 TADA2A 6871 genome.wustl.edu 37 17 35804840 35804840 + Missense_Mutation SNP T T G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 35804840 35804840 T G SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known missense c.574 p.F192V 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 276 243 46.64 368 0 0.00 TADA2A 6871 genome.wustl.edu 37 17 35822181 35822181 + Splice_Site SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 35822181 35822181 G C SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known splice_site c.669-1 e9-1 1.000 - - - no_errors TADA2A HGNC ENSG00000108264 51 37 42.05 99 0 0.00 TADA2A 6871 genome.wustl.edu 37 17 35830526 35830526 + Silent SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 35830526 35830526 C G SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known silent c.918 p.L306 0.811 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 139 22 13.58 223 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7045505 7045505 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 7045505 7045505 G A SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.199 p.E67K 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 8 3 25.00 17 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7045505 7045505 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 7045505 7045505 G A SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.199 p.E67K 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 3 3 50.00 12 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7045552 7045552 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7045552 7045552 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.246 p.I82M 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 4 6 60.00 20 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7056023 7056023 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 7056023 7056023 C A SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.505 p.L169M 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 28 4 12.50 37 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7056573 7056573 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 7056573 7056573 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 16 15 48.39 27 0 0.00 TADA2B 93624 genome.wustl.edu 37 4 7056573 7056573 + Nonsense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 7056573 7056573 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known nonsense c.1055 p.S352* 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 92 26 22.03 141 0 0.00 TADA3 10474 genome.wustl.edu 37 3 9825714 9825714 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 9825714 9825714 C T SNP TADA3 ENST00000301964 human ensembl 70_37 -1 known silent c.1104 p.L368 1.000 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 25 8 24.24 40 0 0.00 TADA3 10474 genome.wustl.edu 37 3 9831553 9831553 + Missense_Mutation SNP G G T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 3 9831553 9831553 G T SNP TADA3 ENST00000301964 human ensembl 70_37 -1 known missense c.302 p.P101H 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 42 5 10.64 47 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70597014 70597014 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70597014 70597014 A C SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.684 p.E228D 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 23 7 23.33 33 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70601676 70601676 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70601676 70601676 G C SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1441 p.E481Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 101 22 17.74 108 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70601684 70601684 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70601684 70601684 T A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1449 p.N483K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 95 28 22.76 105 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70603813 70603813 + Missense_Mutation SNP T T G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 70603813 70603813 T G SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1946 p.M649R 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 81 45 35.71 151 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70613181 70613181 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70613181 70613181 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3079 p.D1027N 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 47 33 41.25 99 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70618466 70618466 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70618466 70618466 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3662 p.R1221Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 49 14 22.22 91 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70621404 70621404 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 70621404 70621404 T G SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3810 p.I1270M 0.999 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 55 9 14.06 60 0 0.00 TAF1 6872 genome.wustl.edu 37 X 70683738 70683738 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 70683738 70683738 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.5563 p.G1855S 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 36 14 28.00 66 0 0.00 TAF10 6881 genome.wustl.edu 37 11 6632183 6632183 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 6632183 6632183 G C SNP TAF10 ENST00000299424 human ensembl 70_37 -1 known missense c.627 p.I209M 1.000 pirsf_TFIID_30kDa,prints_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 41 20 32.79 45 0 0.00 TAF11 6882 genome.wustl.edu 37 6 34848131 34848131 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 34848131 34848131 C A SNP TAF11 ENST00000361288 human ensembl 70_37 -1 known nonsense c.343 p.E115* 1.000 pfam_TAFII28,superfamily_Histone-fold pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 23 15 39.47 47 0 0.00 TAF11 6882 genome.wustl.edu 37 6 34855587 34855587 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34855587 34855587 C G SNP TAF11 ENST00000361288 human ensembl 70_37 -1 known missense c.148 p.E50Q 0.913 NULL pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 41 23 35.94 37 0 0.00 TAF15 8148 genome.wustl.edu 37 17 34169419 34169419 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 34169419 34169419 G T SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known missense c.962 p.R321I 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 35 31 46.97 64 0 0.00 TAF15 8148 genome.wustl.edu 37 17 34171813 34171813 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 34171813 34171813 G C SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known missense c.1510 p.D504H 0.997 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 77 45 36.89 96 0 0.00 TAF15 8148 genome.wustl.edu 37 17 34173922 34173922 + Missense_Mutation SNP A A T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 34173922 34173922 A T SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known missense c.1752 p.R584S 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 40 29 42.03 75 0 0.00 TAF1A 9015 genome.wustl.edu 37 1 222732050 222732050 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 222732050 222732050 C T SNP TAF1A ENST00000350027 human ensembl 70_37 -1 known silent c.1305 p.R435 0.347 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 43 15 25.86 39 0 0.00 TAF1B 9014 genome.wustl.edu 37 2 10051016 10051016 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 10051016 10051016 C G SNP TAF1B ENST00000263663 human ensembl 70_37 +1 known silent c.1107 p.L369 0.992 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 33 22 40.00 34 0 0.00 TAF1B 9014 genome.wustl.edu 37 2 9989550 9989550 + Missense_Mutation SNP A A C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 9989550 9989550 A C SNP TAF1B ENST00000263663 human ensembl 70_37 +1 known missense c.166 p.K56Q 0.999 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 16 3 15.79 21 0 0.00 TAF1C 9013 genome.wustl.edu 37 16 84213391 84213391 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 84213391 84213391 G A SNP TAF1C ENST00000378541 human ensembl 70_37 -1 known missense c.1766 p.S589L 0.975 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 19 11 36.67 28 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32630431 32630431 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 32630431 32630431 G A SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.5147 p.S1716F 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 107 31 22.46 133 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32630671 32630671 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 32630671 32630671 T C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4907 p.D1636G 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 47 16 25.40 83 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32631089 32631089 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32631089 32631089 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4489 p.D1497N 1.000 pirsf_TAF1_animal,superfamily_Bromodomain,smart_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 39 31 44.29 69 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32631420 32631420 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 32631420 32631420 C G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4158 p.L1386F 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 89 29 24.58 114 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32631755 32631755 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32631755 32631755 C G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.3823 p.E1275Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 41 26 38.81 63 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32632175 32632175 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 32632175 32632175 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.3403 p.Q1135E 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 43 14 24.56 56 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32633243 32633243 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 32633243 32633243 T G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.2335 p.T779P 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 31 30 49.18 98 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32633289 32633289 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 32633289 32633289 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known silent c.2289 p.E763 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 101 27 21.09 82 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32633525 32633525 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 32633525 32633525 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.2053 p.R685G 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 26 66 71.74 142 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32633691 32633691 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 32633691 32633691 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.1887 p.I629M 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 45 36 44.44 92 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32634881 32634881 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32634881 32634881 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.697 p.G233R 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 27 13 32.50 62 0 0.00 TAF1L 138474 genome.wustl.edu 37 9 32635100 32635100 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 32635100 32635100 G A SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.478 p.P160S 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 101 28 21.71 120 0 0.00 TAF2 6873 genome.wustl.edu 37 8 120831654 120831654 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 8 120831654 120831654 G C SNP TAF2 ENST00000378164 human ensembl 70_37 -1 known missense c.231 p.I77M 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 26 19 42.22 33 0 0.00 TAF3 83860 genome.wustl.edu 37 10 7860774 7860774 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 7860774 7860774 C G SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known silent c.102 p.L34 1.000 pfam_BTP,superfamily_Histone-fold,smart_BTP pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 9 5 35.71 23 0 0.00 TAF3 83860 genome.wustl.edu 37 10 8006327 8006327 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 8006327 8006327 C G SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known nonsense c.854 p.S285* 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 10 5 33.33 20 0 0.00 TAF3 83860 genome.wustl.edu 37 10 8006430 8006430 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 8006430 8006430 G A SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known silent c.957 p.K319 0.893 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 9 4 30.77 17 0 0.00 TAF4 6874 genome.wustl.edu 37 20 60574120 60574120 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 20 60574120 60574120 G A SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known silent c.2832 p.L944 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 35 38 52.05 48 0 0.00 TAF4 6874 genome.wustl.edu 37 20 60575694 60575694 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 60575694 60575694 G C SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.2570 p.S857C 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 121 25 17.12 153 0 0.00 TAF4 6874 genome.wustl.edu 37 20 60581658 60581658 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 60581658 60581658 C T SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.2131 p.A711T 0.998 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 87 23 20.91 134 0 0.00 TAF4 6874 genome.wustl.edu 37 20 60584215 60584215 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 20 60584215 60584215 C T SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.1777 p.V593M 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 81 12 12.90 63 0 0.00 TAF4 6874 genome.wustl.edu 37 20 60585161 60585161 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 60585161 60585161 G A SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known nonsense c.1702 p.Q568* 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 35 7 16.67 37 0 0.00 TAF4B 6875 genome.wustl.edu 37 18 23854695 23854695 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 23854695 23854695 G C SNP TAF4B ENST00000269142 human ensembl 70_37 +1 known silent c.666 p.L222 0.993 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 19 7 26.92 24 0 0.00 TAF4B 6875 genome.wustl.edu 37 18 23901074 23901074 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 23901074 23901074 G C SNP TAF4B ENST00000269142 human ensembl 70_37 +1 known silent c.2043 p.V681 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 5 5 50.00 27 0 0.00 TAF5 6877 genome.wustl.edu 37 10 105139503 105139503 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 105139503 105139503 G T SNP TAF5 ENST00000369839 human ensembl 70_37 +1 known missense c.1252 p.D418Y 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 28 12 30.00 27 0 0.00 TAF5 6877 genome.wustl.edu 37 10 105141483 105141483 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 105141483 105141483 C T SNP TAF5 ENST00000369839 human ensembl 70_37 +1 known silent c.1419 p.L473 0.964 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 33 20 37.74 42 0 0.00 TAF5 6877 genome.wustl.edu 37 10 105141587 105141587 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105141587 105141587 A T SNP TAF5 ENST00000369839 human ensembl 70_37 +1 known missense c.1523 p.K508I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 19 13 40.62 35 0 0.00 TAF5L 27097 genome.wustl.edu 37 1 229730226 229730226 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 229730226 229730226 T C SNP TAF5L ENST00000258281 human ensembl 70_37 -1 known missense c.1588 p.M530V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 42 10 18.87 84 0 0.00 TAF5L 27097 genome.wustl.edu 37 1 229730463 229730463 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 229730463 229730463 G C SNP TAF5L ENST00000258281 human ensembl 70_37 -1 known missense c.1351 p.R451G 0.963 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 23 46 66.67 56 0 0.00 TAF6 6878 genome.wustl.edu 37 7 99709583 99709583 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 99709583 99709583 G C SNP TAF6 ENST00000344095 human ensembl 70_37 -1 known missense c.760 p.Q254E 1.000 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 94 22 18.80 55 0 0.00 TAF6L 10629 genome.wustl.edu 37 11 62553839 62553839 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62553839 62553839 C G SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known missense c.1068 p.H356Q 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 28 15 34.88 60 0 0.00 TAF6L 10629 genome.wustl.edu 37 11 62554156 62554156 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 62554156 62554156 C T SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known silent c.1257 p.L419 0.095 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 32 13 28.89 48 0 0.00 TAF6L 10629 genome.wustl.edu 37 11 62554674 62554674 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 62554674 62554674 C G SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known missense c.1775 p.S592W 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 10 4 28.57 12 0 0.00 TAF7L 54457 genome.wustl.edu 37 X 100531425 100531425 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 100531425 100531425 C G SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.1041 p.E347D 0.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 30 4 11.43 19 0 0.00 TAF7L 54457 genome.wustl.edu 37 X 100531436 100531436 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 100531436 100531436 C G SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.1030 p.D344H 0.009 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 33 4 10.81 21 0 0.00 TAF7L 54457 genome.wustl.edu 37 X 100538563 100538563 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 100538563 100538563 G A SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.412 p.R138C 0.910 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 151 127 45.36 274 0 0.00 TAF7L 54457 genome.wustl.edu 37 X 100538563 100538563 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 X 100538563 100538563 G A SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.412 p.R138C 0.910 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 39 24 37.50 24 0 0.00 TAF7L 54457 genome.wustl.edu 37 X 100541591 100541591 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100541591 100541591 C T SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.375 p.M125I 0.028 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 31 19 38.00 30 0 0.00 TAF8 129685 genome.wustl.edu 37 6 42036293 42036293 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 6 42036293 42036293 C T SNP TAF8 ENST00000372982 human ensembl 70_37 +1 known missense c.728 p.S243L 1.000 NULL pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC ENSG00000137413 61 21 25.61 84 0 0.00 TAF9 6880 genome.wustl.edu 37 5 68647889 68647889 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 68647889 68647889 C G SNP TAF9 ENST00000380822 human ensembl 70_37 -1 known nonstop c.518 p.*173S 0.987 NULL pfam_ATPase_AAA_core - no_errors TAF9 HGNC ENSG00000085231 29 21 42.00 41 0 0.00 TAF9 6880 genome.wustl.edu 37 5 68651483 68651483 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 68651483 68651483 C G SNP TAF9 ENST00000380822 human ensembl 70_37 -1 known missense c.319 p.E107Q 1.000 NULL pfam_ATPase_AAA_core - no_errors TAF9 HGNC ENSG00000085231 19 7 26.92 21 0 0.00 TAF9 6880 genome.wustl.edu 37 5 68660976 68660976 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 68660976 68660976 G T SNP TAF9 ENST00000217893 human ensembl 70_37 -1 known missense c.589 p.P197T 1.000 NULL pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC ENSG00000085231 51 22 29.73 83 0 0.00 TAF9 6880 genome.wustl.edu 37 5 68660982 68660982 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 68660982 68660982 G A SNP TAF9 ENST00000217893 human ensembl 70_37 -1 known nonsense c.583 p.Q195* 1.000 NULL pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC ENSG00000085231 54 22 28.95 81 0 0.00 TAF9B 51616 genome.wustl.edu 37 X 77387268 77387268 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 77387268 77387268 G A SNP TAF9B ENST00000341864 human ensembl 70_37 -1 known missense c.595 p.P199S 1.000 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 121 83 40.69 171 0 0.00 TAF9B 51616 genome.wustl.edu 37 X 77393273 77393273 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 77393273 77393273 G A SNP TAF9B ENST00000341864 human ensembl 70_37 -1 known silent c.378 p.N126 1.000 pfam_TFIID-31 pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 44 23 34.33 76 0 0.00 TAGAP 117289 genome.wustl.edu 37 6 159457048 159457048 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 159457048 159457048 C A SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known missense c.2007 p.Q669H 0.004 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 19 9 32.14 36 0 0.00 TAGAP 117289 genome.wustl.edu 37 6 159457435 159457435 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 159457435 159457435 C T SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known silent c.1620 p.P540 0.017 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 94 18 16.07 157 0 0.00 TAGAP 117289 genome.wustl.edu 37 6 159457435 159457435 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 159457435 159457435 C T SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known silent c.1620 p.P540 0.017 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 35 4 10.26 33 0 0.00 TAGLN2 8407 genome.wustl.edu 37 1 159889069 159889069 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 159889069 159889069 G A SNP TAGLN2 ENST00000368096 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 superfamily_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN2 HGNC ENSG00000158710 37 11 22.92 29 0 0.00 TAGLN3 29114 genome.wustl.edu 37 3 111719696 111719696 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111719696 111719696 T G SNP TAGLN3 ENST00000273368 human ensembl 70_37 +1 known silent c.258 p.A86 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN3 HGNC ENSG00000144834 32 25 43.86 78 0 0.00 TAMM41 132001 genome.wustl.edu 37 3 11849353 11849353 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 11849353 11849353 C T SNP TAMM41 ENST00000444133 human ensembl 70_37 -1 putative silent c.891 p.V297 1.000 pfam_Mmp37 pfam_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 36 27 42.86 38 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160019895 160019895 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160019895 160019895 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.784 p.H262Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 27 7 20.59 29 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160027048 160027048 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 160027048 160027048 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known silent c.1083 p.P361 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 19 24 55.81 20 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160031609 160031609 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 160031609 160031609 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.1649 p.S550N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 55 24 30.38 75 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160074021 160074021 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 160074021 160074021 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known silent c.3258 p.A1086 0.056 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 45 12 21.05 71 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160080864 160080864 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 160080864 160080864 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.3800 p.G1267E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 86 18 17.14 50 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160086183 160086183 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160086183 160086183 G C SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4246 p.E1416Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 79 25 23.81 105 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160086255 160086255 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160086255 160086255 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4318 p.E1440K 0.992 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 120 35 22.58 176 0 0.00 TANC1 85461 genome.wustl.edu 37 2 160086342 160086342 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160086342 160086342 G C SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4405 p.E1469Q 0.970 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 17 15 46.88 23 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61278190 61278190 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 61278190 61278190 C G SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.419 p.S140C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 28 16 36.36 58 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61315253 61315253 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 61315253 61315253 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.626 p.G209E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 59 17 22.37 72 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61432197 61432197 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61432197 61432197 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.1806 p.E602D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 27 17 38.64 23 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61432444 61432444 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 61432444 61432444 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.2053 p.E685K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 35 26 42.62 42 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61476269 61476269 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 61476269 61476269 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.3103 p.E1035Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 28 14 33.33 85 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61492980 61492980 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 61492980 61492980 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.3860 p.R1287Q 1.000 pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 95 32 25.20 110 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61497691 61497691 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 61497691 61497691 C T SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.4348 p.R1450W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 7 6 46.15 10 0 0.00 TANC2 26115 genome.wustl.edu 37 17 61498543 61498543 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61498543 61498543 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.5200 p.D1734H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 60 17 22.08 62 0 0.00 TANK 10010 genome.wustl.edu 37 2 162061215 162061215 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 162061215 162061215 G C SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.238 p.E80Q 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 15 5 25.00 12 0 0.00 TANK 10010 genome.wustl.edu 37 2 162080448 162080448 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 162080448 162080448 C G SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.350 p.S117C 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 93 26 21.85 79 0 0.00 TANK 10010 genome.wustl.edu 37 2 162087928 162087928 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 162087928 162087928 C G SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.967 p.L323V 0.721 NULL NULL - no_errors TANK HGNC ENSG00000136560 27 6 18.18 32 0 0.00 TAOK1 57551 genome.wustl.edu 37 17 27778620 27778620 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27778620 27778620 C G SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known silent c.54 p.L18 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 21 5 19.23 19 0 0.00 TAOK1 57551 genome.wustl.edu 37 17 27837950 27837950 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27837950 27837950 G C SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known silent c.1644 p.L548 0.986 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 18 16 47.06 21 0 0.00 TAOK1 57551 genome.wustl.edu 37 17 27849331 27849331 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27849331 27849331 G C SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known missense c.1942 p.E648Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 20 12 37.50 28 0 0.00 TAOK1 57551 genome.wustl.edu 37 17 27869933 27869933 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27869933 27869933 C G SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known missense c.2899 p.Q967E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 44 12 21.43 51 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29990151 29990151 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 29990151 29990151 C G SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.338 p.S113C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 54 46 46.00 92 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29993184 29993184 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29993184 29993184 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.754 p.E252Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 16 13 44.83 44 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29994587 29994587 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29994587 29994587 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.1194 p.E398D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 11 13 54.17 23 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29996797 29996797 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29996797 29996797 G A SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known silent c.1686 p.R562 0.925 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 30 13 30.23 38 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29997038 29997038 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29997038 29997038 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.1848 p.Q616H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 26 18 40.91 34 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29997591 29997591 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29997591 29997591 G A SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known silent c.1998 p.L666 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 43 18 29.51 76 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 29998291 29998291 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29998291 29998291 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.2698 p.E900Q 0.977 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 34 24 41.38 53 0 0.00 TAOK2 9344 genome.wustl.edu 37 16 30000973 30000973 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 30000973 30000973 G T SNP TAOK2 ENST00000279394 human ensembl 70_37 +1 known missense c.2292 p.Q764H 1.000 superfamily_Homeodomain-like pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC ENSG00000149930 14 4 22.22 19 0 0.00 TAOK3 51347 genome.wustl.edu 37 12 118590140 118590140 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 118590140 118590140 G A SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known silent c.2427 p.L809 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 60 18 23.08 53 0 0.00 TAOK3 51347 genome.wustl.edu 37 12 118597971 118597971 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118597971 118597971 C G SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.2332 p.E778Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 57 39 40.62 125 0 0.00 TAOK3 51347 genome.wustl.edu 37 12 118598015 118598015 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118598015 118598015 C G SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.2288 p.R763T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 78 48 38.10 135 0 0.00 TAOK3 51347 genome.wustl.edu 37 12 118615108 118615108 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 118615108 118615108 C T SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known silent c.1593 p.K531 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 148 19 11.31 186 0 0.00 TAOK3 51347 genome.wustl.edu 37 12 118675938 118675938 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 12 118675938 118675938 G A SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.377 p.A126V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 15 4 21.05 9 0 0.00 TAP1 6890 genome.wustl.edu 37 6 32814865 32814865 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32814865 32814865 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known missense c.2200 p.D734N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 21 6 22.22 44 0 0.00 TAP1 6890 genome.wustl.edu 37 6 32816891 32816891 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32816891 32816891 G C SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known nonsense c.1433 p.S478* 0.994 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 20 5 20.00 39 0 0.00 TAP1 6890 genome.wustl.edu 37 6 32818836 32818836 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32818836 32818836 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known missense c.1115 p.R372Q 0.985 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 41 18 30.51 51 0 0.00 TAP1 6890 genome.wustl.edu 37 6 32818868 32818868 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32818868 32818868 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known silent c.1083 p.E361 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 35 13 27.08 37 0 0.00 TAP2 6891 genome.wustl.edu 37 6 32798442 32798442 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 32798442 32798442 C T SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known missense c.1414 p.D472N 0.028 pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 25 3 10.71 40 0 0.00 TAP2 6891 genome.wustl.edu 37 6 32800468 32800468 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32800468 32800468 T G SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known missense c.1079 p.E360A 0.988 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 26 13 33.33 53 0 0.00 TAP2 6891 genome.wustl.edu 37 6 32805352 32805352 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 32805352 32805352 G C SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known silent c.570 p.A190 0.639 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 26 5 16.13 24 0 0.00 TAP2 6891 genome.wustl.edu 37 6 32805780 32805780 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 32805780 32805780 G A SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known silent c.231 p.V77 0.997 prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 58 31 34.83 105 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33272198 33272198 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 33272198 33272198 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known silent c.1086 p.L362 0.999 pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 31 23 42.59 57 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33272263 33272263 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33272263 33272263 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.1021 p.Q341E 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 36 26 41.94 31 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33272263 33272263 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 33272263 33272263 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known nonsense c.1021 p.Q341* 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 19 3 13.64 43 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33273056 33273056 + Nonsense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 33273056 33273056 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known nonsense c.578 p.S193* 0.231 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 12 8 40.00 20 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33281019 33281019 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33281019 33281019 C A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.444 p.E148D 0.917 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 46 16 25.81 67 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33281142 33281142 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 6 33281142 33281142 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known silent c.321 p.S107 0.018 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 9 8 47.06 24 0 0.00 TAPBP 6892 genome.wustl.edu 37 6 33281175 33281175 + Missense_Mutation SNP G G C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 33281175 33281175 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.288 p.F96L 0.000 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 19 11 36.67 20 0 0.00 TAPBPL 55080 genome.wustl.edu 37 12 6570296 6570296 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 6570296 6570296 C G SNP TAPBPL ENST00000544289 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors TAPBPL HGNC ENSG00000139192 17 9 34.62 32 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234527332 234527332 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 234527332 234527332 G C SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4857 p.T1619 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 16 11 37.93 18 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234528170 234528170 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 234528170 234528170 G T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4689 p.L1563 0.199 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 74 16 17.78 38 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234529131 234529131 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 234529131 234529131 C T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.4537 p.E1513K 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 39 20 33.90 72 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234529150 234529150 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 234529150 234529150 C T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4518 p.Q1506 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 20 10 33.33 39 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234536926 234536926 + Splice_Site SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 234536926 234536926 C A SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known splice_site c.4071+1 e25+1 1.000 - - - no_errors TARBP1 HGNC ENSG00000059588 60 22 26.83 57 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234565269 234565269 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 234565269 234565269 C G SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.2764 p.V922L 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 63 21 25.00 48 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234565905 234565905 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 234565905 234565905 T A SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.2537 p.Q846L 0.001 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 51 7 12.07 33 0 0.00 TARBP1 6894 genome.wustl.edu 37 1 234613973 234613973 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 234613973 234613973 C G SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.877 p.E293Q 1.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 33 10 23.26 38 0 0.00 TARDBP 23435 genome.wustl.edu 37 1 11073843 11073843 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 11073843 11073843 C T SNP TARDBP ENST00000240185 human ensembl 70_37 +1 known missense c.59 p.S20L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 41 12 22.64 36 0 0.00 TARM1 441864 genome.wustl.edu 37 19 54573395 54573395 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54573395 54573395 C T SNP TARM1 ENST00000432826 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL smart_Ig_sub - no_errors TARM1 HGNC ENSG00000248385 69 51 42.50 66 0 0.00 TARS 6897 genome.wustl.edu 37 5 33448722 33448722 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 33448722 33448722 C T SNP TARS ENST00000265112 human ensembl 70_37 +1 known silent c.214 p.L72 0.993 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 16 13 44.83 28 0 0.00 TARS 6897 genome.wustl.edu 37 5 33457395 33457395 + Missense_Mutation SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 33457395 33457395 A G SNP TARS ENST00000265112 human ensembl 70_37 +1 known missense c.871 p.M291V 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 34 87 71.90 47 0 0.00 TARS 6897 genome.wustl.edu 37 5 33467719 33467719 + Missense_Mutation SNP A A G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 33467719 33467719 A G SNP TARS ENST00000265112 human ensembl 70_37 +1 known missense c.2078 p.N693S 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 26 25 49.02 56 0 0.00 TARS2 80222 genome.wustl.edu 37 1 150463113 150463113 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150463113 150463113 G A SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.424 p.A142T 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 169 35 17.16 162 0 0.00 TARS2 80222 genome.wustl.edu 37 1 150463973 150463973 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 150463973 150463973 C T SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.616 p.R206C 0.845 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 165 20 10.81 138 0 0.00 TARS2 80222 genome.wustl.edu 37 1 150464809 150464809 + RNA SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 150464809 150464809 C T SNP TARS2 ENST00000460794 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TARS2 HGNC ENSG00000143374 33 12 26.67 37 0 0.00 TARS2 80222 genome.wustl.edu 37 1 150477120 150477120 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 150477120 150477120 C T SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known silent c.1731 p.A577 0.993 pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 78 26 25.00 76 0 0.00 TARS2 80222 genome.wustl.edu 37 1 150477452 150477452 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150477452 150477452 G C SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.1891 p.E631Q 0.985 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 52 19 26.76 70 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102194910 102194910 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 102194910 102194910 C G SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.2284 p.D762H 0.903 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 55 24 30.38 43 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102197143 102197143 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 102197143 102197143 G C SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.2242 p.Q748E 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 33 4 10.81 79 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102197161 102197161 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 102197161 102197161 G A SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known nonsense c.2224 p.R742* 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 35 15 30.00 58 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102201989 102201989 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 102201989 102201989 C T SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known silent c.1998 p.V666 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 33 19 36.54 55 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102211717 102211717 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 102211717 102211717 G T SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.1939 p.P647T 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 32 4 11.11 31 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102215848 102215848 + Silent SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 102215848 102215848 C A SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known silent c.1743 p.P581 0.910 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 77 24 23.76 71 0 0.00 TARSL2 123283 genome.wustl.edu 37 15 102244135 102244135 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 102244135 102244135 C T SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.1001 p.G334D 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 21 9 30.00 69 0 0.00 TAS1R1 80835 genome.wustl.edu 37 1 6635241 6635241 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 6635241 6635241 G A SNP TAS1R1 ENST00000333172 human ensembl 70_37 +1 known missense c.1049 p.R350K 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 24 12 33.33 30 0 0.00 TAS1R1 80835 genome.wustl.edu 37 1 6638780 6638780 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 6638780 6638780 G A SNP TAS1R1 ENST00000328191 human ensembl 70_37 +1 known missense c.1328 p.R443H 0.022 NULL pfam_ANF_lig-bd_rcpt,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 44 10 18.52 51 0 0.00 TAS1R1 80835 genome.wustl.edu 37 1 6638937 6638937 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6638937 6638937 C T SNP TAS1R1 ENST00000333172 human ensembl 70_37 +1 known missense c.1819 p.L607F 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 28 7 20.00 21 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19166295 19166295 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 19166295 19166295 G T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.2318 p.S773Y 0.917 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 61 24 28.24 82 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19180795 19180795 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 19180795 19180795 G C SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.1169 p.S390C 0.147 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 30 11 26.83 30 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19180891 19180891 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 19180891 19180891 G T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.1073 p.T358N 0.995 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 25 3 10.71 58 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19180914 19180914 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 19180914 19180914 G A SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel silent c.1050 p.L350 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 41 17 29.31 58 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19180914 19180914 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 19180914 19180914 G A SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel silent c.1050 p.L350 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 49 20 28.99 52 0 0.00 TAS1R2 80834 genome.wustl.edu 37 1 19181144 19181144 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 19181144 19181144 C T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.820 p.V274M 0.087 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 27 4 12.90 21 0 0.00 TAS1R3 83756 genome.wustl.edu 37 1 1267263 1267263 + Nonsense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 1267263 1267263 C A SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known nonsense c.437 p.S146* 0.085 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 22 3 12.00 39 0 0.00 TAS1R3 83756 genome.wustl.edu 37 1 1267287 1267287 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 1267287 1267287 G A SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known missense c.461 p.G154D 0.992 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 12 6 33.33 31 0 0.00 TAS1R3 83756 genome.wustl.edu 37 1 1268706 1268706 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 1268706 1268706 C G SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known missense c.1547 p.S516C 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 18 8 30.77 21 0 0.00 TAS1R3 83756 genome.wustl.edu 37 1 1269217 1269217 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1269217 1269217 C G SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known silent c.1932 p.L644 0.871 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 15 18 54.55 23 0 0.00 TAS2R1 50834 genome.wustl.edu 37 5 9629467 9629467 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 9629467 9629467 C T SNP TAS2R1 ENST00000382492 human ensembl 70_37 -1 known silent c.678 p.A226 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 20 7 25.93 30 0 0.00 TAS2R1 50834 genome.wustl.edu 37 5 9629839 9629839 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 9629839 9629839 G A SNP TAS2R1 ENST00000382492 human ensembl 70_37 -1 known silent c.306 p.F102 1.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 9 9 50.00 32 0 0.00 TAS2R1 50834 genome.wustl.edu 37 5 9630024 9630024 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 5 9630024 9630024 T - DEL TAS2R1 ENST00000382492 human ensembl 70_37 -1 known frame_shift_del c.121 p.M41fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 9 3 25.00 17 0 0.00 TAS2R13 50838 genome.wustl.edu 37 12 11061381 11061381 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11061381 11061381 C T SNP TAS2R13 ENST00000390677 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 48 18 27.27 63 0 0.00 TAS2R13 50838 genome.wustl.edu 37 12 11061753 11061753 + Missense_Mutation SNP T T G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 11061753 11061753 T G SNP TAS2R13 ENST00000390677 human ensembl 70_37 -1 known missense c.145 p.I49L 0.533 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 3 6 66.67 17 0 0.00 TAS2R16 50833 genome.wustl.edu 37 7 122634943 122634943 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 122634943 122634943 C T SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.746 p.G249D 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 148 23 13.45 206 0 0.00 TAS2R16 50833 genome.wustl.edu 37 7 122634943 122634943 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 122634943 122634943 C T SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.746 p.G249D 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 49 6 10.91 32 0 0.00 TAS2R16 50833 genome.wustl.edu 37 7 122635279 122635279 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 122635279 122635279 G A SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.410 p.T137I 0.006 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 10 6 37.50 16 0 0.00 TAS2R19 259294 genome.wustl.edu 37 12 11174585 11174585 + Missense_Mutation SNP G G C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 12 11174585 11174585 G C SNP TAS2R19 ENST00000390673 human ensembl 70_37 -1 known missense c.586 p.L196V 0.005 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 94 104 52.00 173 0 0.00 TAS2R19 259294 genome.wustl.edu 37 12 11174657 11174657 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 12 11174657 11174657 T C SNP TAS2R19 ENST00000390673 human ensembl 70_37 -1 known missense c.514 p.I172V 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 75 46 38.02 73 0 0.00 TAS2R19 259294 genome.wustl.edu 37 12 11174729 11174729 + Missense_Mutation SNP T T A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 11174729 11174729 T A SNP TAS2R19 ENST00000390673 human ensembl 70_37 -1 known missense c.442 p.T148S 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 52 33 38.82 73 0 0.00 TAS2R30 259293 genome.wustl.edu 37 12 11286061 11286061 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286061 11286061 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known silent c.783 p.F261 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 118 42 26.25 150 0 0.00 TAS2R30 259293 genome.wustl.edu 37 12 11286276 11286276 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286276 11286276 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known silent c.568 p.L190 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 65 19 21.84 72 0 0.00 TAS2R30 259293 genome.wustl.edu 37 12 11286503 11286503 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286503 11286503 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known missense c.341 p.S114F 0.065 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 53 31 36.90 77 0 0.00 TAS2R31 259290 genome.wustl.edu 37 12 11183564 11183564 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 11183564 11183564 C T SNP TAS2R31 ENST00000390675 human ensembl 70_37 -1 known missense c.371 p.R124K 0.066 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 71 32 31.07 48 0 0.00 TAS2R38 5726 genome.wustl.edu 37 7 141672740 141672740 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 141672740 141672740 G T SNP TAS2R38 ENST00000547270 human ensembl 70_37 -1 known silent c.750 p.V250 0.217 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 36 4 10.00 48 0 0.00 TAS2R4 50832 genome.wustl.edu 37 7 141478326 141478326 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 141478326 141478326 C G SNP TAS2R4 ENST00000247881 human ensembl 70_37 +1 known nonsense c.38 p.S13* 0.002 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 30 23 43.40 42 0 0.00 TAS2R41 259287 genome.wustl.edu 37 7 143175196 143175197 + Frame_Shift_Ins INS - - G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 143175196 143175197 - G INS TAS2R41 ENST00000408916 human ensembl 70_37 +1 known frame_shift_ins c.231_232 p.L79fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 48 9 15.79 81 0 0.00 TAS2R41 259287 genome.wustl.edu 37 7 143175387 143175387 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 143175387 143175387 C G SNP TAS2R41 ENST00000408916 human ensembl 70_37 +1 known missense c.422 p.S141C 0.124 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 34 16 32.00 35 0 0.00 TAS2R42 353164 genome.wustl.edu 37 12 11338902 11338902 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 11338902 11338902 C T SNP TAS2R42 ENST00000334266 human ensembl 70_37 -1 known silent c.642 p.L214 0.032 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 9 5 35.71 32 0 0.00 TAS2R42 353164 genome.wustl.edu 37 12 11339326 11339326 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 11339326 11339326 G A SNP TAS2R42 ENST00000334266 human ensembl 70_37 -1 known missense c.218 p.S73L 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 26 6 18.75 22 0 0.00 TAS2R43 259289 genome.wustl.edu 37 12 11244102 11244102 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 11244102 11244102 G A SNP TAS2R43 ENST00000531678 human ensembl 70_37 -1 known silent c.727 p.L243 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 146 38 19.90 131 0 0.00 TAS2R43 259289 genome.wustl.edu 37 12 11244372 11244372 + Missense_Mutation SNP C C G TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 11244372 11244372 C G SNP TAS2R43 ENST00000531678 human ensembl 70_37 -1 known missense c.457 p.V153L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 31 38 55.07 85 0 0.00 TAS2R43 259289 genome.wustl.edu 37 12 11244687 11244687 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 11244687 11244687 G C SNP TAS2R43 ENST00000531678 human ensembl 70_37 -1 known missense c.142 p.L48V 0.022 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 24 10 29.41 17 0 0.00 TAS2R46 259292 genome.wustl.edu 37 12 11214392 11214392 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 11214392 11214392 G A SNP TAS2R46 ENST00000533467 human ensembl 70_37 -1 known silent c.502 p.L168 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 78 11 12.36 46 0 0.00 TAS2R50 259296 genome.wustl.edu 37 12 11139426 11139426 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 11139426 11139426 G A SNP TAS2R50 ENST00000506868 human ensembl 70_37 -1 known silent c.34 p.L12 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 14 6 30.00 13 0 0.00 TAS2R60 338398 genome.wustl.edu 37 7 143141000 143141000 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 143141000 143141000 C A SNP TAS2R60 ENST00000332690 human ensembl 70_37 +1 known missense c.455 p.S152Y 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 11 6 35.29 26 0 0.00 TAS2R60 338398 genome.wustl.edu 37 7 143141297 143141297 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 143141297 143141297 C G SNP TAS2R60 ENST00000332690 human ensembl 70_37 +1 known missense c.752 p.S251C 0.014 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 50 33 39.76 61 0 0.00 TAS2R64P 338412 genome.wustl.edu 37 12 11230243 11230243 + RNA SNP C C A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 12 11230243 11230243 C A SNP TAS2R64P ENST00000534866 human ensembl 70_37 -1 known rna NULL NULL 0.146 - - - no_errors TAS2R64P HGNC ENSG00000256274 63 14 18.18 84 0 0.00 TAS2R64P 338412 genome.wustl.edu 37 12 11230560 11230560 + RNA SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 11230560 11230560 G A SNP TAS2R64P ENST00000534866 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R64P HGNC ENSG00000256274 30 19 38.78 45 0 0.00 TAS2R7 50837 genome.wustl.edu 37 12 10954406 10954406 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 10954406 10954406 G T SNP TAS2R7 ENST00000240687 human ensembl 70_37 -1 known missense c.764 p.T255N 0.133 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 36 4 10.00 33 0 0.00 TAS2R7 50837 genome.wustl.edu 37 12 10954804 10954804 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 10954804 10954804 C T SNP TAS2R7 ENST00000240687 human ensembl 70_37 -1 known missense c.366 p.M122I 0.990 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 35 19 35.19 41 0 0.00 TASP1 55617 genome.wustl.edu 37 20 13610679 13610679 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 13610679 13610679 C T SNP TASP1 ENST00000337743 human ensembl 70_37 -1 known missense c.47 p.R16K 1.000 NULL pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 42 26 38.24 66 0 0.00 TAT 6898 genome.wustl.edu 37 16 71605524 71605524 + Missense_Mutation SNP C C G TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 16 71605524 71605524 C G SNP TAT ENST00000355962 human ensembl 70_37 -1 known missense c.744 p.E248D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 94 27 22.31 103 0 0.00 TAT 6898 genome.wustl.edu 37 16 71606214 71606214 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 71606214 71606214 C A SNP TAT ENST00000355962 human ensembl 70_37 -1 known missense c.581 p.W194L 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 55 10 15.38 56 0 0.00 TAT 6898 genome.wustl.edu 37 16 71610147 71610147 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 71610147 71610147 C G SNP TAT ENST00000355962 human ensembl 70_37 -1 known missense c.172 p.A58P 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 69 42 37.84 91 0 0.00 TATDN1 83940 genome.wustl.edu 37 8 125528235 125528235 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 125528235 125528235 C G SNP TATDN1 ENST00000276692 human ensembl 70_37 -1 known missense c.239 p.R80T 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 76 27 25.71 67 0 0.00 TATDN1 83940 genome.wustl.edu 37 8 125551267 125551267 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 125551267 125551267 G C SNP TATDN1 ENST00000276692 human ensembl 70_37 -1 known missense c.21 p.I7M 0.949 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 56 8 12.50 117 0 0.00 TATDN2 9797 genome.wustl.edu 37 3 10311955 10311955 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 10311955 10311955 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1089 p.F363 0.011 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 30 20 40.00 41 0 0.00 TATDN2 9797 genome.wustl.edu 37 3 10312129 10312129 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 10312129 10312129 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1263 p.P421 0.000 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 52 21 28.77 39 0 0.00 TATDN2 9797 genome.wustl.edu 37 3 10312369 10312369 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 10312369 10312369 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1503 p.H501 1.000 pfam_TatD_family pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 30 7 18.92 54 0 0.00 TATDN2 9797 genome.wustl.edu 37 3 10320145 10320145 + Missense_Mutation SNP A A G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 10320145 10320145 A G SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known missense c.2144 p.Q715R 1.000 pfam_TatD_family pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 55 7 11.29 53 0 0.00 TATDN3 128387 genome.wustl.edu 37 1 212985578 212985578 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 212985578 212985578 C G SNP TATDN3 ENST00000531963 human ensembl 70_37 +1 putative missense c.610 p.L204V 0.275 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN3 HGNC ENSG00000203705 43 19 30.65 43 0 0.00 TAX1BP1 8887 genome.wustl.edu 37 7 27842752 27842752 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 27842752 27842752 G A SNP TAX1BP1 ENST00000409980 human ensembl 70_37 +1 novel missense c.1789 p.E597K 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 133 49 26.92 124 0 0.00 TBATA 219793 genome.wustl.edu 37 10 72541760 72541760 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 72541760 72541760 G T SNP TBATA ENST00000299290 human ensembl 70_37 -1 known nonsense c.74 p.S25* 0.034 NULL NULL - no_errors TBATA HGNC ENSG00000166220 40 28 41.18 95 0 0.00 TBC1D1 23216 genome.wustl.edu 37 4 38051422 38051422 + Nonsense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 38051422 38051422 C T SNP TBC1D1 ENST00000261439 human ensembl 70_37 +1 known nonsense c.1813 p.Q605* 0.042 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 35 9 20.45 56 0 0.00 TBC1D1 23216 genome.wustl.edu 37 4 38054812 38054812 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 38054812 38054812 G A SNP TBC1D1 ENST00000508802 human ensembl 70_37 +1 novel missense c.2158 p.E720K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 32 17 34.69 35 0 0.00 TBC1D1 23216 genome.wustl.edu 37 4 38134784 38134784 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 38134784 38134784 C T SNP TBC1D1 ENST00000261439 human ensembl 70_37 +1 known missense c.3212 p.S1071F 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 15 11 42.31 44 0 0.00 TBC1D10A 83874 genome.wustl.edu 37 22 30688730 30688730 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 30688730 30688730 C T SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known silent c.1161 p.L387 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 80 14 14.89 70 0 0.00 TBC1D10A 83874 genome.wustl.edu 37 22 30688746 30688746 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 22 30688746 30688746 C T SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known missense c.1145 p.R382H 0.034 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 61 8 11.59 64 0 0.00 TBC1D10A 83874 genome.wustl.edu 37 22 30714650 30714650 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 30714650 30714650 C T SNP TBC1D10A ENST00000433426 human ensembl 70_37 -1 known silent c.6 p.E2 0.004 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 54 8 12.90 39 0 0.00 TBC1D10A 83874 genome.wustl.edu 37 22 30722721 30722721 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 30722721 30722721 G A SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known silent c.150 p.F50 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 57 11 16.18 107 1 0.93 TBC1D10A 83874 genome.wustl.edu 37 22 30722748 30722748 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 22 30722748 30722748 G A SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known silent c.123 p.L41 0.964 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 14 11 44.00 20 0 0.00 TBC1D10B 26000 genome.wustl.edu 37 16 30369268 30369268 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30369268 30369268 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.2424 p.F808L 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 34 17 33.33 36 0 0.00 TBC1D10B 26000 genome.wustl.edu 37 16 30369438 30369438 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 30369438 30369438 C G SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.2254 p.E752Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 170 49 22.27 253 1 0.39 TBC1D10B 26000 genome.wustl.edu 37 16 30371123 30371123 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 30371123 30371123 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.1311 p.I437M 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 34 5 12.82 57 0 0.00 TBC1D10B 26000 genome.wustl.edu 37 16 30381122 30381122 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30381122 30381122 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.383 p.A128G 0.003 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 11 11 50.00 32 0 0.00 TBC1D10C 374403 genome.wustl.edu 37 11 67173162 67173162 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67173162 67173162 C G SNP TBC1D10C ENST00000312390 human ensembl 70_37 +1 known missense c.457 p.Q153E 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 14 3 17.65 14 0 0.00 TBC1D10C 374403 genome.wustl.edu 37 11 67173470 67173470 + Nonsense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 67173470 67173470 C G SNP TBC1D10C ENST00000526387 human ensembl 70_37 +1 novel nonsense c.560 p.S187* 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 44 10 18.52 51 0 0.00 TBC1D10C 374403 genome.wustl.edu 37 11 67177148 67177149 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 67177148 67177149 - G INS TBC1D10C ENST00000312390 human ensembl 70_37 +1 known frame_shift_ins c.1264_1265 p.A423fs 0.951:0.936 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 14 3 17.65 30 0 0.00 TBC1D12 23232 genome.wustl.edu 37 10 96234261 96234262 + RNA INS - - A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 96234261 96234262 - A INS TBC1D12 ENST00000482498 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.000 - - - no_errors TBC1D12 HGNC ENSG00000108239 4 3 42.86 12 0 0.00 TBC1D13 54662 genome.wustl.edu 37 9 131554812 131554812 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 131554812 131554812 C G SNP TBC1D13 ENST00000372648 human ensembl 70_37 +1 known missense c.342 p.F114L 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 26 43 61.43 43 0 0.00 TBC1D14 57533 genome.wustl.edu 37 4 6925609 6925609 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6925609 6925609 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.493 p.E165K 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 28 22 44.00 53 0 0.00 TBC1D14 57533 genome.wustl.edu 37 4 6995933 6995933 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 6995933 6995933 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.866 p.R289K 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 53 12 18.46 113 0 0.00 TBC1D14 57533 genome.wustl.edu 37 4 7026927 7026927 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 7026927 7026927 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.1954 p.E652K 0.986 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 32 12 27.27 29 0 0.00 TBC1D15 64786 genome.wustl.edu 37 12 72266761 72266761 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 72266761 72266761 C G SNP TBC1D15 ENST00000550746 human ensembl 70_37 +1 known missense c.182 p.S61C 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 45 18 28.57 67 0 0.00 TBC1D16 125058 genome.wustl.edu 37 17 77921464 77921464 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 77921464 77921464 C G SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known missense c.1708 p.E570Q 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 31 17 35.42 41 0 0.00 TBC1D16 125058 genome.wustl.edu 37 17 77921490 77921490 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 77921490 77921490 G C SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known missense c.1682 p.T561R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 62 22 26.19 57 0 0.00 TBC1D16 125058 genome.wustl.edu 37 17 77984012 77984012 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 77984012 77984012 G A SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known silent c.726 p.I242 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 67 22 24.72 96 0 0.00 TBC1D16 125058 genome.wustl.edu 37 17 77984149 77984149 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 17 77984149 77984149 C T SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known missense c.589 p.E197K 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 43 8 15.69 53 0 0.00 TBC1D17 79735 genome.wustl.edu 37 19 50381379 50381379 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 50381379 50381379 C T SNP TBC1D17 ENST00000598789 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TBC1D17 HGNC ENSG00000104946 46 41 47.13 91 0 0.00 TBC1D17 79735 genome.wustl.edu 37 19 50386048 50386048 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 50386048 50386048 G A SNP TBC1D17 ENST00000221543 human ensembl 70_37 +1 known missense c.826 p.E276K 0.649 NULL pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 10 17 62.96 16 0 0.00 TBC1D19 55296 genome.wustl.edu 37 4 26719616 26719616 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 26719616 26719616 C T SNP TBC1D19 ENST00000264866 human ensembl 70_37 +1 known missense c.1016 p.S339L 1.000 smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 29 18 38.30 76 0 0.00 TBC1D20 128637 genome.wustl.edu 37 20 418073 418073 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 418073 418073 G T SNP TBC1D20 ENST00000461188 human ensembl 70_37 -1 known rna NULL NULL 0.129 - - - no_errors TBC1D20 HGNC ENSG00000125875 32 11 25.58 45 0 0.00 TBC1D20 128637 genome.wustl.edu 37 20 419231 419231 + Nonstop_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 419231 419231 C A SNP TBC1D20 ENST00000354200 human ensembl 70_37 -1 known nonstop c.1211 p.*404L 0.974 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 41 20 32.79 57 0 0.00 TBC1D21 161514 genome.wustl.edu 37 15 74166088 74166088 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74166088 74166088 G A SNP TBC1D21 ENST00000300504 human ensembl 70_37 +1 known missense c.38 p.R13K 0.062 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 27 14 34.15 59 0 0.00 TBC1D21 161514 genome.wustl.edu 37 15 74166104 74166104 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 74166104 74166104 C A SNP TBC1D21 ENST00000300504 human ensembl 70_37 +1 known missense c.54 p.F18L 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 70 17 19.54 85 0 0.00 TBC1D22A 25771 genome.wustl.edu 37 22 47287219 47287219 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 47287219 47287219 G T SNP TBC1D22A ENST00000337137 human ensembl 70_37 +1 known nonsense c.766 p.E256* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 21 18 46.15 61 0 0.00 TBC1D22B 55633 genome.wustl.edu 37 6 37247081 37247081 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37247081 37247081 T C SNP TBC1D22B ENST00000373491 human ensembl 70_37 +1 known missense c.115 p.F39L 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 30 7 18.92 65 0 0.00 TBC1D22B 55633 genome.wustl.edu 37 6 37284604 37284604 + Nonsense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 37284604 37284604 C T SNP TBC1D22B ENST00000373491 human ensembl 70_37 +1 known nonsense c.1291 p.Q431* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 34 61 64.21 92 0 0.00 TBC1D23 55773 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 70_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 22 3 12.00 17 0 0.00 TBC1D24 57465 genome.wustl.edu 37 16 2546267 2546267 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 2546267 2546267 C T SNP TBC1D24 ENST00000293970 human ensembl 70_37 +1 known missense c.118 p.R40C 0.999 NULL pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 32 5 13.51 51 0 0.00 TBC1D24 57465 genome.wustl.edu 37 16 2546389 2546389 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 2546389 2546389 G C SNP TBC1D24 ENST00000293970 human ensembl 70_37 +1 known missense c.240 p.K80N 1.000 smart_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 32 30 48.39 39 0 0.00 TBC1D24 57465 genome.wustl.edu 37 16 2547037 2547037 + Silent SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 2547037 2547037 C A SNP TBC1D24 ENST00000293970 human ensembl 70_37 +1 known silent c.888 p.S296 0.997 superfamily_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 30 4 11.76 71 0 0.00 TBC1D25 4943 genome.wustl.edu 37 X 48399807 48399807 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48399807 48399807 C T SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known silent c.210 p.L70 0.993 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 35 5 12.50 42 0 0.00 TBC1D25 4943 genome.wustl.edu 37 X 48403316 48403316 + Missense_Mutation SNP T T C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 X 48403316 48403316 T C SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known missense c.293 p.L98P 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 123 62 33.51 133 0 0.00 TBC1D25 4943 genome.wustl.edu 37 X 48417641 48417641 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48417641 48417641 T C SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known silent c.612 p.F204 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 27 23 46.00 68 0 0.00 TBC1D25 4943 genome.wustl.edu 37 X 48418773 48418773 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48418773 48418773 C T SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known nonsense c.1477 p.Q493* 0.072 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 101 30 22.90 138 0 0.00 TBC1D25 4943 genome.wustl.edu 37 X 48419230 48419230 + Missense_Mutation SNP T T G TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 X 48419230 48419230 T G SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known missense c.1934 p.M645R 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 22 6 21.43 29 0 0.00 TBC1D26 353149 genome.wustl.edu 37 17 15640800 15640800 + Missense_Mutation SNP A A T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 15640800 15640800 A T SNP TBC1D26 ENST00000437605 human ensembl 70_37 +1 known missense c.161 p.E54V 0.891 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 41 30 42.25 68 0 0.00 TBC1D26 353149 genome.wustl.edu 37 17 15641633 15641633 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 15641633 15641633 C T SNP TBC1D26 ENST00000437605 human ensembl 70_37 +1 known missense c.319 p.R107W 0.008 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 19 9 32.14 71 0 0.00 TBC1D2B 23102 genome.wustl.edu 37 15 78293968 78293968 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 78293968 78293968 C G SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.2689 p.D897H 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 36 10 21.74 38 0 0.00 TBC1D2B 23102 genome.wustl.edu 37 15 78305568 78305568 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 78305568 78305568 G C SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1867 p.L623V 0.968 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 65 22 25.29 124 0 0.00 TBC1D2B 23102 genome.wustl.edu 37 15 78316761 78316761 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 78316761 78316761 C T SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1207 p.D403N 0.741 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 20 14 41.18 46 0 0.00 TBC1D2B 23102 genome.wustl.edu 37 15 78316871 78316871 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 15 78316871 78316871 C T SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1097 p.R366Q 0.978 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 16 12 42.86 26 0 0.00 TBC1D2B 23102 genome.wustl.edu 37 15 78346325 78346325 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78346325 78346325 C T SNP TBC1D2B ENST00000482562 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D2B HGNC ENSG00000167202 10 8 44.44 31 0 0.00 TBC1D30 23329 genome.wustl.edu 37 12 65264530 65264530 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 65264530 65264530 G A SNP TBC1D30 ENST00000229088 human ensembl 70_37 +1 known silent c.1929 p.Q643 0.991 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 36 29 44.62 59 0 0.00 TBC1D3B 414059 genome.wustl.edu 37 17 34499303 34499303 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 34499303 34499303 C G SNP TBC1D3B ENST00000398801 human ensembl 70_37 -1 known missense c.408 p.K136N 0.430 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3B HGNC ENSG00000224226 76 22 22.45 142 0 0.00 TBC1D3B 414059 genome.wustl.edu 37 17 34499728 34499728 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 34499728 34499728 C A SNP TBC1D3B ENST00000398801 human ensembl 70_37 -1 known missense c.312 p.M104I 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3B HGNC ENSG00000224226 55 9 14.06 61 0 0.00 TBC1D3C 414060 genome.wustl.edu 37 17 34581879 34581879 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 34581879 34581879 G A SNP TBC1D3C ENST00000308078 human ensembl 70_37 -1 known missense c.1171 p.P391S 0.099 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3C HGNC ENSG00000234972 66 55 45.08 77 0 0.00 TBC1D3P1-DHX40P1 653645 genome.wustl.edu 37 17 58085852 58085852 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 58085852 58085852 T C SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 70_37 -1 known rna NULL NULL 0.130 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 92 26 21.85 103 1 0.96 TBC1D3P1-DHX40P1 653645 genome.wustl.edu 37 17 58094559 58094559 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 58094559 58094559 C T SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 292 46 13.61 391 0 0.00 TBC1D3P2 440452 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 36 7 16.28 22 0 0.00 TBC1D3P2 440452 genome.wustl.edu 37 17 60344530 60344530 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 60344530 60344530 G A SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 192 132 40.74 277 0 0.00 TBC1D3P2 440452 genome.wustl.edu 37 17 60344588 60344588 + RNA SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 17 60344588 60344588 G C SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 199 55 21.65 275 1 0.36 TBC1D3P2 440452 genome.wustl.edu 37 17 60349273 60349273 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 60349273 60349273 C A SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 40 58 59.18 73 0 0.00 TBC1D3P5 440419 genome.wustl.edu 37 17 25748850 25748850 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25748850 25748850 C G SNP TBC1D3P5 ENST00000586223 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 21 8 27.59 21 0 0.00 TBC1D4 9882 genome.wustl.edu 37 13 75923387 75923387 + Silent SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 13 75923387 75923387 G A SNP TBC1D4 ENST00000377636 human ensembl 70_37 -1 known silent c.1327 p.L443 1.000 smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 40 6 13.04 39 0 0.00 TBC1D4 9882 genome.wustl.edu 37 13 76055553 76055553 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 76055553 76055553 G A SNP TBC1D4 ENST00000377636 human ensembl 70_37 -1 known silent c.351 p.F117 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 51 23 31.08 77 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17202618 17202618 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17202618 17202618 C T SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.2225 p.R742K 0.903 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 38 15 28.30 51 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17255822 17255822 + Missense_Mutation SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 17255822 17255822 C A SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1629 p.E543D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 13 13 50.00 32 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17279867 17279867 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 17279867 17279867 T C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1376 p.N459S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 13 18 58.06 35 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17279867 17279867 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 17279867 17279867 T C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1376 p.N459S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 6 18 75.00 59 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17413625 17413625 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 17413625 17413625 C T SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.937 p.D313N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 11 9 45.00 46 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17550029 17550029 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17550029 17550029 G C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.34 p.L12V 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 56 21 27.27 86 0 0.00 TBC1D5 9779 genome.wustl.edu 37 3 17617959 17617959 + RNA SNP A A T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 3 17617959 17617959 A T SNP TBC1D5 ENST00000480435 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D5 HGNC ENSG00000131374 45 29 39.19 34 0 0.00 TBC1D8 11138 genome.wustl.edu 37 2 101645967 101645967 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 101645967 101645967 C G SNP TBC1D8 ENST00000409318 human ensembl 70_37 -1 known missense c.2208 p.L736F 0.999 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 13 5 27.78 21 0 0.00 TBC1D8B 54885 genome.wustl.edu 37 X 106066571 106066571 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106066571 106066571 T G SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.702 p.F234L 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 34 22 39.29 45 0 0.00 TBC1D8B 54885 genome.wustl.edu 37 X 106070569 106070569 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106070569 106070569 T G SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known splice_site c.1203+2 e7+2 1.000 - - - no_errors TBC1D8B HGNC ENSG00000133138 25 5 16.67 56 0 0.00 TBC1D8B 54885 genome.wustl.edu 37 X 106093419 106093419 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 106093419 106093419 G A SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.2002 p.D668N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 51 105 67.31 105 0 0.00 TBC1D8B 54885 genome.wustl.edu 37 X 106116848 106116848 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 106116848 106116848 G C SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.3016 p.D1006H 0.993 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 41 11 21.15 43 0 0.00 TBC1D9 23158 genome.wustl.edu 37 4 141543434 141543434 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 141543434 141543434 C T SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known missense c.3716 p.R1239K 0.998 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 53 6 10.17 59 0 0.00 TBC1D9 23158 genome.wustl.edu 37 4 141555331 141555331 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 141555331 141555331 G C SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known silent c.2517 p.L839 0.487 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 50 14 21.54 71 0 0.00 TBC1D9 23158 genome.wustl.edu 37 4 141578289 141578289 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 141578289 141578289 C T SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known missense c.2299 p.E767K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 34 17 33.33 74 0 0.00 TBC1D9 23158 genome.wustl.edu 37 4 141590860 141590860 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 141590860 141590860 G A SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known silent c.1365 p.S455 0.588 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 40 19 32.20 63 0 0.00 TBC1D9B 23061 genome.wustl.edu 37 5 179290680 179290680 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 179290680 179290680 G A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known missense c.3521 p.T1174M 0.997 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 44 15 25.42 51 0 0.00 TBC1D9B 23061 genome.wustl.edu 37 5 179303026 179303026 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 179303026 179303026 G A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known silent c.1794 p.I598 0.983 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 57 12 17.39 57 0 0.00 TBC1D9B 23061 genome.wustl.edu 37 5 179306763 179306763 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 179306763 179306763 C T SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known silent c.1281 p.S427 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 34 8 19.05 74 0 0.00 TBC1D9B 23061 genome.wustl.edu 37 5 179315238 179315238 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179315238 179315238 C A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known missense c.1119 p.M373I 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 27 25 48.08 64 0 0.00 TBCB 1155 genome.wustl.edu 37 19 36606994 36606994 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 36606994 36606994 C G SNP TBCB ENST00000221855 human ensembl 70_37 +1 known missense c.166 p.L56V 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 77 19 19.79 95 0 0.00 TBCB 1155 genome.wustl.edu 37 19 36612624 36612624 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 36612624 36612624 C T SNP TBCB ENST00000589308 human ensembl 70_37 +1 putative missense c.398 p.A133V 0.488 NULL superfamily_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 5 8 61.54 12 0 0.00 TBCCD1 55171 genome.wustl.edu 37 3 186274421 186274421 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 186274421 186274421 G A SNP TBCCD1 ENST00000338733 human ensembl 70_37 -1 known silent c.636 p.L212 1.000 NULL pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 50 8 13.79 30 0 0.00 TBCD 6904 genome.wustl.edu 37 17 80724217 80724217 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 80724217 80724217 C T SNP TBCD ENST00000355528 human ensembl 70_37 +1 known silent c.408 p.V136 0.014 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 72 24 25.00 78 0 0.00 TBCE 6905 genome.wustl.edu 37 1 235530759 235530759 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 235530759 235530759 C T SNP TBCE ENST00000482230 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TBCE HGNC ENSG00000116957 83 41 28.47 58 0 0.00 TBCEL 219899 genome.wustl.edu 37 11 120957533 120957533 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 120957533 120957533 G A SNP TBCEL ENST00000422003 human ensembl 70_37 +1 known missense c.1003 p.E335K 1.000 pfscan_Ubiquitin_supergroup pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 28 12 30.00 55 0 0.00 TBCK 93627 genome.wustl.edu 37 4 107173034 107173034 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 107173034 107173034 C G SNP TBCK ENST00000273980 human ensembl 70_37 -1 known missense c.586 p.E196Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 46 15 24.59 58 0 0.00 TBK1 29110 genome.wustl.edu 37 12 64849669 64849669 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 64849669 64849669 C T SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known missense c.19 p.H7Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TBK1 HGNC ENSG00000183735 30 9 23.08 23 0 0.00 TBK1 29110 genome.wustl.edu 37 12 64858234 64858234 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64858234 64858234 C T SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known nonsense c.349 p.R117* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TBK1 HGNC ENSG00000183735 25 3 10.71 40 0 0.00 TBK1 29110 genome.wustl.edu 37 12 64890164 64890164 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 64890164 64890164 G A SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known missense c.1738 p.E580K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TBK1 HGNC ENSG00000183735 12 6 31.58 17 0 0.00 TBKBP1 9755 genome.wustl.edu 37 17 45773697 45773697 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 45773697 45773697 G A SNP TBKBP1 ENST00000361722 human ensembl 70_37 +1 known silent c.219 p.E73 1.000 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 12 3 20.00 37 0 0.00 TBL1X 6907 genome.wustl.edu 37 X 9660204 9660204 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 9660204 9660204 G A SNP TBL1X ENST00000217964 human ensembl 70_37 +1 known silent c.801 p.G267 0.879 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 20 18 47.37 30 0 0.00 TBL1X 6907 genome.wustl.edu 37 X 9673058 9673058 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 9673058 9673058 G C SNP TBL1X ENST00000217964 human ensembl 70_37 +1 known missense c.1140 p.Q380H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 101 93 47.94 177 1 0.56 TBL1XR1 79718 genome.wustl.edu 37 3 176750766 176750766 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 176750766 176750766 T G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.1409 p.N470T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 17 15 46.88 72 0 0.00 TBL1XR1 79718 genome.wustl.edu 37 3 176755911 176755911 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 176755911 176755911 G A SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.1097 p.S366F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 37 36 49.32 69 0 0.00 TBL1XR1 79718 genome.wustl.edu 37 3 176763937 176763937 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 176763937 176763937 T G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.905 p.Q302P 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 23 10 30.30 40 0 0.00 TBL1XR1 79718 genome.wustl.edu 37 3 176767838 176767838 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 176767838 176767838 C G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.649 p.E217Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 57 15 20.83 35 0 0.00 TBL1XR1 79718 genome.wustl.edu 37 3 176769478 176769478 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 176769478 176769478 G C SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.241 p.L81V 0.997 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 53 9 14.52 42 0 0.00 TBL2 26608 genome.wustl.edu 37 7 72984894 72984894 + Missense_Mutation SNP C C A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 72984894 72984894 C A SNP TBL2 ENST00000305632 human ensembl 70_37 -1 known missense c.1287 p.Q429H 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 12 3 20.00 18 0 0.00 TBL3 10607 genome.wustl.edu 37 16 2024380 2024380 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2024380 2024380 G A SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.193 p.D65N 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 44 22 33.33 53 0 0.00 TBL3 10607 genome.wustl.edu 37 16 2027624 2027624 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 2027624 2027624 G C SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.1852 p.D618H 0.696 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 13 10 43.48 31 0 0.00 TBL3 10607 genome.wustl.edu 37 16 2027758 2027758 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2027758 2027758 G C SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.1915 p.E639Q 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 55 33 37.50 42 0 0.00 TBP 6908 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 70_37 +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 27 7 20.59 26 0 0.00 TBP 6908 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 70_37 +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 11 7 38.89 13 0 0.00 TBP 6908 genome.wustl.edu 37 6 170871052 170871053 + Frame_Shift_Del DEL GC GC - TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 170871052 170871053 GC - DEL TBP ENST00000230354 human ensembl 70_37 +1 known frame_shift_del c.228_229 p.Q77fs 0.994:0.996 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 96 11 10.28 57 0 0.00 TBP 6908 genome.wustl.edu 37 6 170871055 170871055 + Frame_Shift_Del DEL G G - TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 170871055 170871055 G - DEL TBP ENST00000230354 human ensembl 70_37 +1 known frame_shift_del c.231 p.Q77fs 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 96 11 10.28 57 0 0.00 TBP 6908 genome.wustl.edu 37 6 170871055 170871055 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 170871055 170871055 G A SNP TBP ENST00000230354 human ensembl 70_37 +1 known silent c.231 p.Q77 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 58 8 12.12 47 0 0.00 TBPL1 9519 genome.wustl.edu 37 6 134305526 134305526 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 134305526 134305526 G C SNP TBPL1 ENST00000237264 human ensembl 70_37 +1 known missense c.295 p.D99H 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 15 11 42.31 36 0 0.00 TBPL1 9519 genome.wustl.edu 37 6 134305765 134305765 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 134305765 134305765 G C SNP TBPL1 ENST00000237264 human ensembl 70_37 +1 known missense c.437 p.R146T 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 28 17 37.78 57 0 0.00 TBPL2 387332 genome.wustl.edu 37 14 55895676 55895676 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 55895676 55895676 G T SNP TBPL2 ENST00000247219 human ensembl 70_37 -1 known missense c.805 p.L269I 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 22 4 15.38 24 0 0.00 TBPL2 387332 genome.wustl.edu 37 14 55903419 55903419 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55903419 55903419 T G SNP TBPL2 ENST00000247219 human ensembl 70_37 -1 known silent c.468 p.S156 0.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 53 31 36.47 117 0 0.00 TBR1 10716 genome.wustl.edu 37 2 162275534 162275534 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 162275534 162275534 C T SNP TBR1 ENST00000389554 human ensembl 70_37 +1 known silent c.1101 p.I367 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 55 10 15.38 71 0 0.00 TBR1 10716 genome.wustl.edu 37 2 162280548 162280548 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 162280548 162280548 C T SNP TBR1 ENST00000389554 human ensembl 70_37 +1 known missense c.1859 p.S620L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 29 8 21.62 14 0 0.00 TBRG1 84897 genome.wustl.edu 37 11 124496383 124496383 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 124496383 124496383 T C SNP TBRG1 ENST00000441174 human ensembl 70_37 +1 known missense c.469 p.C157R 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 29 12 29.27 41 0 0.00 TBRG1 84897 genome.wustl.edu 37 11 124500738 124500738 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 124500738 124500738 C T SNP TBRG1 ENST00000441174 human ensembl 70_37 +1 known nonsense c.934 p.R312* 1.000 pfam_FYrich_C,smart_FYrich_C pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 7 9 56.25 43 0 0.00 TBX10 347853 genome.wustl.edu 37 11 67402529 67402529 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 67402529 67402529 C T SNP TBX10 ENST00000335385 human ensembl 70_37 -1 known missense c.213 p.M71I 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 53 10 15.87 62 0 0.00 TBX10 347853 genome.wustl.edu 37 11 67402720 67402720 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67402720 67402720 C T SNP TBX10 ENST00000335385 human ensembl 70_37 -1 known missense c.22 p.G8S 0.037 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 29 13 30.95 15 0 0.00 TBX15 6913 genome.wustl.edu 37 1 119474450 119474450 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 119474450 119474450 C T SNP TBX15 ENST00000369429 human ensembl 70_37 -1 known missense c.211 p.E71K 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 5 3 37.50 15 0 0.00 TBX15 6913 genome.wustl.edu 37 1 119530412 119530412 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 119530412 119530412 C T SNP TBX15 ENST00000369429 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 43 18 29.51 87 0 0.00 TBX18 9096 genome.wustl.edu 37 6 85446793 85446793 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 85446793 85446793 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.1434 p.F478 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 24 13 35.14 51 0 0.00 TBX18 9096 genome.wustl.edu 37 6 85447111 85447111 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 85447111 85447111 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.1116 p.S372 0.160 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 40 13 24.53 57 0 0.00 TBX18 9096 genome.wustl.edu 37 6 85457706 85457706 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 85457706 85457706 C A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known nonsense c.871 p.E291* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 22 31 58.49 84 0 0.00 TBX18 9096 genome.wustl.edu 37 6 85473690 85473690 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 85473690 85473690 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.210 p.D70 0.217 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 8 3 27.27 11 0 0.00 TBX19 9095 genome.wustl.edu 37 1 168274320 168274320 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 168274320 168274320 C G SNP TBX19 ENST00000367821 human ensembl 70_37 +1 known missense c.802 p.L268V 0.063 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 149 133 47.00 241 0 0.00 TBX2 6909 genome.wustl.edu 37 17 59485586 59485586 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59485586 59485586 C T SNP TBX2 ENST00000240328 human ensembl 70_37 +1 novel missense c.1858 p.R620C 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 17 7 29.17 43 0 0.00 TBX20 57057 genome.wustl.edu 37 7 35242127 35242127 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 35242127 35242127 C T SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known missense c.1259 p.R420Q 0.991 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 36 18 33.33 63 0 0.00 TBX20 57057 genome.wustl.edu 37 7 35284624 35284624 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 35284624 35284624 G C SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known silent c.591 p.L197 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 57 17 22.67 80 0 0.00 TBX20 57057 genome.wustl.edu 37 7 35288353 35288353 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 7 35288353 35288353 G A SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known missense c.481 p.R161C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 34 20 37.04 56 0 0.00 TBX20 57057 genome.wustl.edu 37 7 35293127 35293127 + Silent SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 7 35293127 35293127 C T SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known silent c.105 p.T35 0.796 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 46 30 38.96 63 0 0.00 TBX22 50945 genome.wustl.edu 37 X 79277789 79277789 + Silent SNP G G A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 X 79277789 79277789 G A SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known silent c.21 p.A7 0.986 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 40 10 20.00 55 0 0.00 TBX22 50945 genome.wustl.edu 37 X 79278734 79278734 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 79278734 79278734 G A SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known silent c.351 p.A117 0.655 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 48 22 31.43 48 0 0.00 TBX22 50945 genome.wustl.edu 37 X 79279576 79279576 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 79279576 79279576 C T SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known missense c.371 p.S124F 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 99 23 18.85 96 0 0.00 TBX22 50945 genome.wustl.edu 37 X 79286502 79286502 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 79286502 79286502 G C SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known silent c.1455 p.L485 0.951 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 45 9 16.67 33 0 0.00 TBX3 6926 genome.wustl.edu 37 12 115109794 115109794 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 115109794 115109794 C T SNP TBX3 ENST00000257566 human ensembl 70_37 -1 known missense c.2084 p.R695H 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 79 24 23.30 38 0 0.00 TBX3 6926 genome.wustl.edu 37 12 115114156 115114156 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 115114156 115114156 G A SNP TBX3 ENST00000257566 human ensembl 70_37 -1 known missense c.1061 p.S354F 0.991 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 34 27 44.26 72 0 0.00 TBX4 9496 genome.wustl.edu 37 17 59533881 59533881 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 59533881 59533881 C T SNP TBX4 ENST00000393853 human ensembl 70_37 +1 known silent c.30 p.S10 0.996 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 34 6 15.00 48 0 0.00 TBX4 9496 genome.wustl.edu 37 17 59557640 59557640 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 59557640 59557640 G C SNP TBX4 ENST00000393853 human ensembl 70_37 +1 known missense c.981 p.Q327H 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 35 23 39.66 44 0 0.00 TBX5 6910 genome.wustl.edu 37 12 114793616 114793616 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 114793616 114793616 G T SNP TBX5 ENST00000310346 human ensembl 70_37 -1 known missense c.1278 p.F426L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 52 35 39.77 127 0 0.00 TBXA2R 6915 genome.wustl.edu 37 19 3595827 3595827 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 3595827 3595827 G A SNP TBXA2R ENST00000589966 human ensembl 70_37 -1 putative missense c.502 p.H168Y 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt - no_errors TBXA2R HGNC ENSG00000006638 0 5 100.00 19 0 0.00 TBXA2R 6915 genome.wustl.edu 37 19 3600354 3600354 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 3600354 3600354 G A SNP TBXA2R ENST00000411851 human ensembl 70_37 -1 known silent c.279 p.F93 0.313 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 55 15 21.43 52 0 0.00 TBXAS1 6916 genome.wustl.edu 37 7 139489299 139489299 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 139489299 139489299 G T SNP TBXAS1 ENST00000493340 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors TBXAS1 HGNC ENSG00000059377 32 4 11.11 43 0 0.00 TBXAS1 6916 genome.wustl.edu 37 7 139717537 139717537 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 139717537 139717537 G A SNP TBXAS1 ENST00000416849 human ensembl 70_37 +1 known silent c.1572 p.R524 0.994 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 36 6 14.29 54 0 0.00 TC2N 123036 genome.wustl.edu 37 14 92258717 92258717 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 92258717 92258717 T G SNP TC2N ENST00000340892 human ensembl 70_37 -1 known missense c.1041 p.K347N 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC ENSG00000165929 20 23 53.49 85 0 0.00 TC2N 123036 genome.wustl.edu 37 14 92278671 92278671 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 92278671 92278671 G A SNP TC2N ENST00000340892 human ensembl 70_37 -1 known silent c.286 p.L96 0.869 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC ENSG00000165929 39 35 47.30 53 0 0.00 TCAIM 285343 genome.wustl.edu 37 3 44396247 44396247 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44396247 44396247 C T SNP TCAIM ENST00000444602 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCAIM HGNC ENSG00000179152 38 26 40.62 65 0 0.00 TCAIM 285343 genome.wustl.edu 37 3 44409093 44409093 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44409093 44409093 G C SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known missense c.465 p.R155S 0.000 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 27 18 40.00 37 0 0.00 TCAIM 285343 genome.wustl.edu 37 3 44437913 44437913 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 44437913 44437913 C T SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known silent c.717 p.I239 0.012 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 22 24 51.06 40 0 0.00 TCAIM 285343 genome.wustl.edu 37 3 44441979 44441979 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44441979 44441979 G A SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known missense c.1018 p.E340K 0.999 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 27 10 27.03 36 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61934514 61934514 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 61934514 61934514 C T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCAM1P HGNC ENSG00000240280 16 11 40.74 21 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61937541 61937541 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 61937541 61937541 A T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCAM1P HGNC ENSG00000240280 10 9 47.37 21 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61937642 61937642 + RNA SNP C C G TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 17 61937642 61937642 C G SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TCAM1P HGNC ENSG00000240280 6 2 25.00 10 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61937648 61937648 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 17 61937648 61937648 C T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.270 - - - no_errors TCAM1P HGNC ENSG00000240280 35 32 47.06 29 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61939783 61939783 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61939783 61939783 G C SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCAM1P HGNC ENSG00000240280 39 19 32.76 50 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61940093 61940093 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61940093 61940093 G T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors TCAM1P HGNC ENSG00000240280 26 9 25.71 25 0 0.00 TCAM1P 146771 genome.wustl.edu 37 17 61940101 61940101 + RNA SNP A A C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 17 61940101 61940101 A C SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors TCAM1P HGNC ENSG00000240280 38 8 17.39 30 0 0.00 TCEA2 6919 genome.wustl.edu 37 20 62699457 62699457 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62699457 62699457 C G SNP TCEA2 ENST00000343484 human ensembl 70_37 +1 known missense c.299 p.S100W 0.204 pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 13 27 67.50 27 0 0.00 TCEA3 6920 genome.wustl.edu 37 1 23724052 23724052 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 23724052 23724052 G C SNP TCEA3 ENST00000450454 human ensembl 70_37 -1 known nonsense c.650 p.S217* 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA3 HGNC ENSG00000204219 33 6 15.38 50 0 0.00 TCEA3 6920 genome.wustl.edu 37 1 23735133 23735133 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23735133 23735133 G T SNP TCEA3 ENST00000374602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TCEA3 HGNC ENSG00000204219 21 16 43.24 34 0 0.00 TCEA3 6920 genome.wustl.edu 37 1 23735133 23735133 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23735133 23735133 G T SNP TCEA3 ENST00000374602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TCEA3 HGNC ENSG00000204219 7 5 41.67 14 0 0.00 TCEA3 6920 genome.wustl.edu 37 1 23744603 23744603 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 23744603 23744603 C G SNP TCEA3 ENST00000492271 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TCEA3 HGNC ENSG00000204219 34 20 37.04 43 0 0.00 TCEAL1 9338 genome.wustl.edu 37 X 102884879 102884879 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 102884879 102884879 C T SNP TCEAL1 ENST00000372624 human ensembl 70_37 +1 known missense c.35 p.P12L 0.018 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL1 HGNC ENSG00000172465 33 13 28.26 43 0 0.00 TCEAL3 85012 genome.wustl.edu 37 X 102863560 102863560 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 102863560 102863560 G A SNP TCEAL3 ENST00000477014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEAL3 HGNC ENSG00000196507 11 13 54.17 29 0 0.00 TCEAL3 85012 genome.wustl.edu 37 X 102864443 102864443 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 102864443 102864443 G T SNP TCEAL3 ENST00000243286 human ensembl 70_37 +1 known nonsense c.451 p.E151* 1.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 92 29 23.97 186 0 0.00 TCEANC 170082 genome.wustl.edu 37 X 13681559 13681559 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 13681559 13681559 A G SNP TCEANC ENST00000314720 human ensembl 70_37 +1 known missense c.1022 p.D341G 0.996 pirsf_TF_IIS-rel pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel - no_errors TCEANC HGNC ENSG00000176896 61 12 16.44 61 0 0.00 TCEANC 170082 genome.wustl.edu 37 X 13682531 13682531 + RNA SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 13682531 13682531 C G SNP TCEANC ENST00000490617 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEANC HGNC ENSG00000176896 29 12 29.27 36 0 0.00 TCEANC 170082 genome.wustl.edu 37 X 13682752 13682752 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 13682752 13682752 C G SNP TCEANC ENST00000490617 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TCEANC HGNC ENSG00000176896 40 13 24.53 65 0 0.00 TCEB1 6921 genome.wustl.edu 37 8 74868231 74868231 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 74868231 74868231 C T SNP TCEB1 ENST00000520242 human ensembl 70_37 -1 known silent c.63 p.L21 1.000 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC ENSG00000154582 19 13 40.62 46 0 0.00 TCEB3 6924 genome.wustl.edu 37 1 24078184 24078184 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 24078184 24078184 G C SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known missense c.1167 p.E389D 1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 25 35 58.33 124 0 0.00 TCEB3 6924 genome.wustl.edu 37 1 24078240 24078240 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 24078240 24078240 G A SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known missense c.1223 p.R408K 0.464 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 15 4 21.05 19 0 0.00 TCEB3 6924 genome.wustl.edu 37 1 24078346 24078346 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 24078346 24078346 G A SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known silent c.1329 p.R443 1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 13 5 27.78 18 0 0.00 TCEB3 6924 genome.wustl.edu 37 1 24078361 24078361 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 24078361 24078361 G C SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known missense c.1344 p.K448N 0.962 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 9 6 40.00 17 0 0.00 TCEB3 6924 genome.wustl.edu 37 1 24082354 24082354 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 24082354 24082354 C T SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known nonsense c.1891 p.Q631* 1.000 pfam_RNA_pol_II_trans_fac_SIII_A,pfscan_F-box_dom_cyclin-like pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 3 9 75.00 20 0 0.00 TCEB3B 51224 genome.wustl.edu 37 18 44559777 44559777 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 44559777 44559777 C G SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.1859 p.R620T 0.014 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 27 24 47.06 67 0 0.00 TCEB3B 51224 genome.wustl.edu 37 18 44559875 44559875 + Missense_Mutation SNP A A T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 18 44559875 44559875 A T SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.1761 p.N587K 0.678 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 44 8 15.09 47 0 0.00 TCEB3B 51224 genome.wustl.edu 37 18 44560325 44560325 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 44560325 44560325 C T SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known silent c.1311 p.Q437 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 27 21 43.75 62 0 0.00 TCEB3B 51224 genome.wustl.edu 37 18 44561020 44561020 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 18 44561020 44561020 G A SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known silent c.616 p.L206 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 19 14 42.42 39 0 0.00 TCEB3B 51224 genome.wustl.edu 37 18 44561176 44561176 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 18 44561176 44561176 C G SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 87 29 25.00 152 0 0.00 TCEB3C 162699 genome.wustl.edu 37 18 44555665 44555665 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 44555665 44555665 G A SNP TCEB3C ENST00000330682 human ensembl 70_37 -1 known silent c.549 p.G183 0.003 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC ENSG00000183791 9 3 25.00 16 0 0.00 TCEB3CL 728929 genome.wustl.edu 37 18 44549025 44549026 + Frame_Shift_Ins INS - - GC TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 18 44549025 44549026 - GC INS TCEB3CL ENST00000451265 human ensembl 70_37 -1 known frame_shift_ins c.1274_1273 p.Q425fs 1.000:1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL HGNC ENSG00000234298 11 5 31.25 14 0 0.00 TCEB3CL 728929 genome.wustl.edu 37 18 44549194 44549194 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 18 44549194 44549194 C T SNP TCEB3CL ENST00000451265 human ensembl 70_37 -1 known missense c.1105 p.G369R 0.001 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL HGNC ENSG00000234298 258 36 12.24 512 0 0.00 TCEB3CL2 100506888 genome.wustl.edu 37 18 44543098 44543099 + Frame_Shift_Ins INS - - GC TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 18 44543098 44543099 - GC INS TCEB3CL2 ENST00000591973 human ensembl 70_37 -1 known frame_shift_ins c.1274_1273 p.Q425fs 1.000:1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 29 5 14.71 24 0 0.00 TCEB3CL2 100506888 genome.wustl.edu 37 18 44543759 44543759 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 44543759 44543759 G A SNP TCEB3CL2 ENST00000591973 human ensembl 70_37 -1 known missense c.613 p.P205S 0.006 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 6 11 64.71 23 0 0.00 TCERG1 10915 genome.wustl.edu 37 5 145843128 145843128 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 145843128 145843128 G T SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.907 p.D303Y 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 92 16 14.81 168 0 0.00 TCERG1 10915 genome.wustl.edu 37 5 145849278 145849278 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 5 145849278 145849278 G T SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.1370 p.W457L 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 16 3 15.79 27 0 0.00 TCERG1 10915 genome.wustl.edu 37 5 145862183 145862183 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 5 145862183 145862183 G A SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.1915 p.E639K 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 37 5 11.90 21 0 0.00 TCERG1 10915 genome.wustl.edu 37 5 145878161 145878161 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145878161 145878161 A C SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.2294 p.K765T 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 29 4 12.12 48 0 0.00 TCERG1L 256536 genome.wustl.edu 37 10 132902613 132902613 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 132902613 132902613 G A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.1400 p.S467L 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC ENSG00000176769 49 23 31.94 59 0 0.00 TCERG1L 256536 genome.wustl.edu 37 10 132961448 132961448 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 132961448 132961448 C A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.971 p.G324V 0.304 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC ENSG00000176769 26 22 45.83 72 0 0.00 TCERG1L 256536 genome.wustl.edu 37 10 133058588 133058588 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 133058588 133058588 C T SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.790 p.V264M 0.830 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC ENSG00000176769 34 6 15.00 71 0 0.00 TCERG1L 256536 genome.wustl.edu 37 10 133106525 133106525 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 133106525 133106525 G A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.619 p.P207S 0.579 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC ENSG00000176769 22 14 38.89 48 0 0.00 TCF12 6938 genome.wustl.edu 37 15 57544626 57544626 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 57544626 57544626 G A SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known missense c.1196 p.R399Q 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF12 HGNC ENSG00000140262 18 8 30.77 27 0 0.00 TCF12 6938 genome.wustl.edu 37 15 57578977 57578977 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 57578977 57578977 C A SNP TCF12 ENST00000560191 human ensembl 70_37 +1 putative rna NULL NULL 0.980 - - - no_errors TCF12 HGNC ENSG00000140262 9 7 43.75 13 0 0.00 TCF19 6941 genome.wustl.edu 37 6 31129531 31129531 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 31129531 31129531 C T SNP TCF19 ENST00000376255 human ensembl 70_37 +1 known silent c.546 p.L182 1.000 NULL pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 112 46 29.11 142 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42605803 42605803 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 42605803 42605803 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.5509 p.E1837K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 35 11 23.91 44 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42605914 42605914 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 42605914 42605914 G A SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.5398 p.R1800W 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 27 11 28.95 29 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42606778 42606778 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 42606778 42606778 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.4534 p.E1512K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 27 19 41.30 73 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42607402 42607402 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 42607402 42607402 G A SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.3910 p.H1304Y 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 133 35 20.71 194 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42608264 42608264 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 22 42608264 42608264 C G SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.3048 p.L1016F 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 53 18 25.00 83 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42609199 42609199 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 42609199 42609199 G C SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.2113 p.L705V 0.998 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 22 10 31.25 24 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42609826 42609826 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 22 42609826 42609826 C G SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.1486 p.D496H 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 30 9 23.08 38 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42610495 42610495 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 42610495 42610495 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 19 88 82.24 67 0 0.00 TCF20 6942 genome.wustl.edu 37 22 42610503 42610503 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 22 42610503 42610503 G C SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.809 p.S270C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 182 55 23.11 293 0 0.00 TCF21 6943 genome.wustl.edu 37 6 134210781 134210781 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 134210781 134210781 C T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known silent c.246 p.N82 0.999 pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC ENSG00000118526 65 32 32.99 129 0 0.00 TCF21 6943 genome.wustl.edu 37 6 134210908 134210908 + Missense_Mutation SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 134210908 134210908 T A SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known missense c.373 p.S125T 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC ENSG00000118526 153 73 32.16 254 0 0.00 TCF21 6943 genome.wustl.edu 37 6 134212865 134212865 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 134212865 134212865 G T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known missense c.465 p.M155I 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC ENSG00000118526 251 89 25.95 248 1 0.40 TCF21 6943 genome.wustl.edu 37 6 134212874 134212874 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 134212874 134212874 G T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known silent c.474 p.G158 0.982 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC ENSG00000118526 67 78 53.06 171 0 0.00 TCF23 150921 genome.wustl.edu 37 2 27375574 27375574 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 27375574 27375574 C T SNP TCF23 ENST00000296096 human ensembl 70_37 +1 known missense c.484 p.R162C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF23 HGNC ENSG00000163792 14 10 41.67 30 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89940059 89940059 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940059 89940059 C G SNP TCF25 ENST00000563032 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors TCF25 HGNC ENSG00000141002 32 21 39.62 39 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89940069 89940069 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940069 89940069 C T SNP TCF25 ENST00000563032 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCF25 HGNC ENSG00000141002 35 20 36.36 41 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89940235 89940235 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89940235 89940235 G C SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.160 p.E54Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 22 15 40.54 38 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89951063 89951063 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89951063 89951063 C T SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.428 p.S143L 0.010 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 27 16 37.21 38 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89954104 89954104 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 16 89954104 89954104 G A SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.593 p.R198Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 45 5 10.00 26 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89961512 89961512 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 89961512 89961512 C T SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known nonsense c.895 p.Q299* 1.000 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 23 8 25.81 23 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89971470 89971470 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 89971470 89971470 G A SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.1594 p.A532T 0.411 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 23 8 25.81 29 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89977541 89977541 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89977541 89977541 G C SNP TCF25 ENST00000263347 human ensembl 70_37 +1 known missense c.1339 p.E447Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 38 22 36.67 41 0 0.00 TCF25 22980 genome.wustl.edu 37 16 89977645 89977645 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89977645 89977645 G C SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known nonstop c.2030 p.*677S 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 46 31 40.26 87 0 0.00 TCF3 6929 genome.wustl.edu 37 19 1623966 1623966 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 1623966 1623966 G A SNP TCF3 ENST00000262965 human ensembl 70_37 -1 known missense c.533 p.P178L 0.995 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF3 HGNC ENSG00000071564 92 22 19.30 75 0 0.00 TCF4 6925 genome.wustl.edu 37 18 52899837 52899837 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 52899837 52899837 C T SNP TCF4 ENST00000398339 human ensembl 70_37 -1 known missense c.1858 p.E620K 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF4 HGNC ENSG00000196628 80 46 36.51 136 0 0.00 TCF4 6925 genome.wustl.edu 37 18 52927229 52927229 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 52927229 52927229 G T SNP TCF4 ENST00000398339 human ensembl 70_37 -1 known missense c.1326 p.S442R 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF4 HGNC ENSG00000196628 8 5 38.46 20 0 0.00 TCF7L1 83439 genome.wustl.edu 37 2 85360955 85360955 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 85360955 85360955 G C SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known missense c.148 p.E50Q 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC ENSG00000152284 10 6 37.50 30 0 0.00 TCF7L1 83439 genome.wustl.edu 37 2 85529687 85529687 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 85529687 85529687 C G SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known missense c.606 p.F202L 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC ENSG00000152284 43 8 15.69 59 0 0.00 TCF7L2 6934 genome.wustl.edu 37 10 114710681 114710681 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 114710681 114710681 C G SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known missense c.166 p.Q56E 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 14 15 51.72 27 0 0.00 TCF7L2 6934 genome.wustl.edu 37 10 114799868 114799869 + In_Frame_Ins INS - - CAC TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 10 114799868 114799869 - CAC INS TCF7L2 ENST00000355995 human ensembl 70_37 +1 known in_frame_ins c.535_536 p.181in_frame_insP 0.998:0.999 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 19 5 20.83 40 0 0.00 TCF7L2 6934 genome.wustl.edu 37 10 114910865 114910865 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 114910865 114910865 C T SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known silent c.984 p.V328 0.998 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 71 64 47.06 167 0 0.00 TCFL5 10732 genome.wustl.edu 37 20 61473404 61473404 + Silent SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 20 61473404 61473404 G A SNP TCFL5 ENST00000335351 human ensembl 70_37 -1 known silent c.1426 p.L476 0.955 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCFL5 HGNC ENSG00000101190 54 18 25.00 85 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152080039 152080039 + Missense_Mutation SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 152080039 152080039 A G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.5654 p.I1885T 0.198 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 38 38 50.00 47 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152081445 152081445 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152081445 152081445 G T SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.4248 p.F1416L 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 26 19 42.22 73 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152081930 152081930 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152081930 152081930 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.3763 p.D1255H 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 23 17 42.50 28 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152082063 152082063 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152082063 152082063 C T SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.3630 p.R1210 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 52 33 38.82 88 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152082912 152082912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 152082912 152082912 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2781 p.E927D 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 84 39 31.71 131 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152082938 152082938 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 152082938 152082938 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2755 p.E919Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 39 31 44.29 31 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152082962 152082962 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 152082962 152082962 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2731 p.E911Q 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 40 26 38.81 37 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152083004 152083004 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 152083004 152083004 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2689 p.E897Q 0.144 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 30 5 14.29 24 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152083115 152083115 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 152083115 152083115 G C SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2578 p.Q860E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 52 34 39.53 49 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152084508 152084508 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152084508 152084508 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.1185 p.L395 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 44 20 31.25 47 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152084526 152084526 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152084526 152084526 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.1167 p.L389 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 10 5 33.33 19 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152085168 152085168 + Silent SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 152085168 152085168 C A SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.525 p.R175 0.282 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 92 17 15.60 59 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152085169 152085169 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 152085169 152085169 C A SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.524 p.R175L 0.069 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 91 17 15.74 59 0 0.00 TCHH 7062 genome.wustl.edu 37 1 152085374 152085374 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152085374 152085374 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.319 p.E107Q 0.317 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 77 70 47.62 111 0 0.00 TCHHL1 126637 genome.wustl.edu 37 1 152058923 152058923 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 152058923 152058923 G A SNP TCHHL1 ENST00000368806 human ensembl 70_37 -1 known missense c.1235 p.T412I 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 99 59 37.34 113 0 0.00 TCHHL1 126637 genome.wustl.edu 37 1 152059164 152059164 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152059164 152059164 C G SNP TCHHL1 ENST00000368806 human ensembl 70_37 -1 known missense c.994 p.D332H 0.028 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 4 4 50.00 11 0 0.00 TCHHL1 126637 genome.wustl.edu 37 1 152059991 152059991 + Frame_Shift_Del DEL T T - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 152059991 152059991 T - DEL TCHHL1 ENST00000368806 human ensembl 70_37 -1 known frame_shift_del c.167 p.N56fs 0.002 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 27 5 15.62 39 0 0.00 TCHP 84260 genome.wustl.edu 37 12 110345389 110345389 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 110345389 110345389 G A SNP TCHP ENST00000312777 human ensembl 70_37 +1 known missense c.584 p.R195Q 0.124 NULL NULL - no_errors TCHP HGNC ENSG00000139437 93 52 35.86 125 1 0.79 TCHP 84260 genome.wustl.edu 37 12 110346483 110346483 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 110346483 110346483 C T SNP TCHP ENST00000312777 human ensembl 70_37 +1 known silent c.792 p.F264 0.271 NULL NULL - no_errors TCHP HGNC ENSG00000139437 17 9 34.62 14 0 0.00 TCHP 84260 genome.wustl.edu 37 12 110348891 110348891 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 110348891 110348891 G T SNP TCHP ENST00000312777 human ensembl 70_37 +1 known missense c.903 p.Q301H 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 50 23 31.51 72 0 0.00 TCL1B 9623 genome.wustl.edu 37 14 96152883 96152883 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 96152883 96152883 G C SNP TCL1B ENST00000340722 human ensembl 70_37 +1 known missense c.79 p.E27Q 0.203 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors TCL1B HGNC ENSG00000213231 61 34 35.79 110 0 0.00 TCL1B 9623 genome.wustl.edu 37 14 96152916 96152916 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 14 96152916 96152916 C T SNP TCL1B ENST00000340722 human ensembl 70_37 +1 known missense c.112 p.R38W 0.000 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors TCL1B HGNC ENSG00000213231 32 16 33.33 78 0 0.00 TCL6 27004 genome.wustl.edu 37 14 96129713 96129713 + RNA SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 96129713 96129713 G C SNP TCL6 ENST00000352367 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors TCL6 HGNC ENSG00000187621 16 7 30.43 32 0 0.00 TCL6 27004 genome.wustl.edu 37 14 96138553 96138554 + RNA INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 14 96138553 96138554 - T INS TCL6 ENST00000459662 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.003 - - - no_errors TCL6 HGNC ENSG00000187621 11 7 38.89 18 0 0.00 TCN1 6947 genome.wustl.edu 37 11 59620777 59620777 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 59620777 59620777 C T SNP TCN1 ENST00000257264 human ensembl 70_37 -1 known missense c.1139 p.R380H 0.000 NULL pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 29 10 25.64 42 0 0.00 TCN1 6947 genome.wustl.edu 37 11 59626606 59626606 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 59626606 59626606 C G SNP TCN1 ENST00000257264 human ensembl 70_37 -1 known missense c.691 p.E231Q 0.003 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 20 15 42.86 55 0 0.00 TCN2 6948 genome.wustl.edu 37 22 31006924 31006924 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 31006924 31006924 G A SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known missense c.131 p.R44Q 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 86 18 17.31 113 0 0.00 TCN2 6948 genome.wustl.edu 37 22 31008988 31008988 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 31008988 31008988 C G SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known nonsense c.386 p.S129* 0.996 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 20 4 16.67 35 0 0.00 TCN2 6948 genome.wustl.edu 37 22 31011416 31011416 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 31011416 31011416 G A SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known missense c.709 p.E237K 0.587 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 19 8 29.63 31 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149754216 149754216 + Frame_Shift_Del DEL G G - TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 5 149754216 149754216 G - DEL TCOF1 ENST00000451292 human ensembl 70_37 +1 known frame_shift_del c.1120 p.A374fs 0.462 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 11 8 42.11 24 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149754645 149754645 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149754645 149754645 G T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known silent c.1407 p.G469 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 15 9 37.50 40 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149754679 149754679 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149754679 149754679 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.1441 p.E481K 0.997 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 19 15 44.12 42 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149755767 149755767 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 149755767 149755767 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known silent c.2016 p.A672 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 214 80 27.21 305 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149755772 149755772 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149755772 149755772 C T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.2021 p.S674F 0.001 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 24 6 20.00 30 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149767590 149767590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149767590 149767590 G C SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3096 p.R1032S 0.485 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 15 22 59.46 35 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149767615 149767615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149767615 149767615 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3121 p.E1041K 1.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 16 10 38.46 30 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149769569 149769569 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149769569 149769569 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3277 p.E1093K 0.740 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 23 18 43.90 44 0 0.00 TCOF1 6949 genome.wustl.edu 37 5 149776211 149776211 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 149776211 149776211 C T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.4259 p.S1420F 0.085 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 101 41 28.87 139 0 0.00 TCP1 6950 genome.wustl.edu 37 6 160210613 160210613 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 160210613 160210613 G A SNP TCP1 ENST00000543532 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TCP1 HGNC ENSG00000120438 23 7 23.33 21 0 0.00 TCP10 6953 genome.wustl.edu 37 6 167772839 167772839 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 167772839 167772839 G C SNP TCP10 ENST00000366827 human ensembl 70_37 -1 putative nonsense c.851 p.S284* 0.002 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 71 28 28.28 136 0 0.00 TCP10 6953 genome.wustl.edu 37 6 167786670 167786670 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167786670 167786670 T C SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.968 p.D323G 0.001 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 35 13 27.08 55 0 0.00 TCP10 6953 genome.wustl.edu 37 6 167786724 167786724 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 167786724 167786724 G A SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.914 p.S305F 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 53 18 25.35 88 0 0.00 TCP10 6953 genome.wustl.edu 37 6 167787843 167787843 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 167787843 167787843 C T SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.785 p.R262Q 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 230 33 12.55 199 0 0.00 TCP10 6953 genome.wustl.edu 37 6 167789501 167789501 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 167789501 167789501 G A SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.641 p.S214F 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 57 21 26.92 124 0 0.00 TCP10L 140290 genome.wustl.edu 37 21 33949030 33949030 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33949030 33949030 T G SNP TCP10L ENST00000472557 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors TCP10L HGNC ENSG00000242220 28 18 39.13 59 0 0.00 TCP10L 140290 genome.wustl.edu 37 21 33954591 33954591 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 33954591 33954591 C T SNP TCP10L ENST00000300258 human ensembl 70_37 -1 known silent c.279 p.L93 0.004 NULL NULL - no_errors TCP10L HGNC ENSG00000242220 46 19 29.23 51 0 0.00 TCP10L2 401285 genome.wustl.edu 37 6 167585684 167585684 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 6 167585684 167585684 G C SNP TCP10L2 ENST00000283507 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.001 NULL NULL - no_errors TCP10L2 HGNC ENSG00000166984 53 7 11.48 98 0 0.00 TCP10L2 401285 genome.wustl.edu 37 6 167608944 167608944 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167608944 167608944 G T SNP TCP10L2 ENST00000473271 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors TCP10L2 HGNC ENSG00000166984 29 20 40.82 77 0 0.00 TCP10L2 401285 genome.wustl.edu 37 6 167610057 167610057 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 167610057 167610057 G A SNP TCP10L2 ENST00000473271 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors TCP10L2 HGNC ENSG00000166984 26 4 13.33 41 0 0.00 TCP10L2 401285 genome.wustl.edu 37 6 167610374 167610374 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167610374 167610374 G T SNP TCP10L2 ENST00000473271 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors TCP10L2 HGNC ENSG00000166984 4 5 55.56 19 0 0.00 TCP11 6954 genome.wustl.edu 37 6 35088206 35088206 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 35088206 35088206 C A SNP TCP11 ENST00000311875 human ensembl 70_37 -1 known missense c.972 p.E324D 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 10 5 33.33 39 0 0.00 TCP11L1 55346 genome.wustl.edu 37 11 33079605 33079605 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 33079605 33079605 G A SNP TCP11L1 ENST00000527661 human ensembl 70_37 +1 known missense c.558 p.M186I 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 29 13 30.95 37 0 0.00 TCP11L2 255394 genome.wustl.edu 37 12 106729840 106729840 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 106729840 106729840 G A SNP TCP11L2 ENST00000299045 human ensembl 70_37 +1 known missense c.991 p.E331K 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 32 21 39.62 40 0 0.00 TCTA 6988 genome.wustl.edu 37 3 49452402 49452402 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 49452402 49452402 G C SNP TCTA ENST00000487432 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors TCTA HGNC ENSG00000145022 6 5 45.45 18 0 0.00 TCTE1 202500 genome.wustl.edu 37 6 44249874 44249874 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 6 44249874 44249874 G C SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known missense c.1269 p.I423M 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 13 7 33.33 17 0 0.00 TCTE1 202500 genome.wustl.edu 37 6 44250215 44250215 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 44250215 44250215 C G SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known missense c.928 p.E310Q 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 13 5 27.78 13 0 0.00 TCTE1 202500 genome.wustl.edu 37 6 44254102 44254102 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 44254102 44254102 C T SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known missense c.445 p.G149S 0.236 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 59 11 15.71 67 0 0.00 TCTE1 202500 genome.wustl.edu 37 6 44255450 44255450 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44255450 44255450 G C SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known nonsense c.113 p.S38* 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 43 7 14.00 47 0 0.00 TCTE1 202500 genome.wustl.edu 37 6 44255656 44255656 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 44255656 44255656 C T SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.416 - - - no_errors TCTE1 HGNC ENSG00000146221 22 12 35.29 53 0 0.00 TCTE3 6991 genome.wustl.edu 37 6 170143221 170143221 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 170143221 170143221 G A SNP TCTE3 ENST00000366774 human ensembl 70_37 -1 known silent c.441 p.F147 0.997 pfam_Tctex pfam_Tctex - no_errors TCTE3 HGNC ENSG00000184786 11 17 60.71 49 0 0.00 TCTE3 6991 genome.wustl.edu 37 6 170143221 170143221 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 170143221 170143221 G A SNP TCTE3 ENST00000366774 human ensembl 70_37 -1 known silent c.441 p.F147 0.997 pfam_Tctex pfam_Tctex - no_errors TCTE3 HGNC ENSG00000184786 25 25 50.00 27 0 0.00 TCTEX1D1 200132 genome.wustl.edu 37 1 67241845 67241845 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 67241845 67241845 G C SNP TCTEX1D1 ENST00000489510 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCTEX1D1 HGNC ENSG00000152760 18 5 21.74 29 0 0.00 TCTEX1D1 200132 genome.wustl.edu 37 1 67243159 67243159 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 67243159 67243159 C G SNP TCTEX1D1 ENST00000489510 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TCTEX1D1 HGNC ENSG00000152760 22 11 33.33 39 0 0.00 TCTEX1D2 255758 genome.wustl.edu 37 3 196042995 196042995 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196042995 196042995 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 17 5 21.74 32 0 0.00 TCTEX1D2 255758 genome.wustl.edu 37 3 196042995 196042995 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 196042995 196042995 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 22 7 24.14 22 0 0.00 TCTEX1D2 255758 genome.wustl.edu 37 3 196043031 196043031 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196043031 196043031 G C SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.185 p.S62C 0.569 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 29 10 25.64 21 0 0.00 TCTEX1D2 255758 genome.wustl.edu 37 3 196043091 196043091 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 196043091 196043091 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.125 p.S42F 0.987 NULL pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 17 3 15.00 30 0 0.00 TCTEX1D2 255758 genome.wustl.edu 37 3 196044975 196044975 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 196044975 196044975 C T SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.49 p.E17K 0.043 NULL pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 53 31 36.90 68 0 0.00 TCTEX1D4 343521 genome.wustl.edu 37 1 45271718 45271718 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 45271718 45271718 G A SNP TCTEX1D4 ENST00000339355 human ensembl 70_37 -1 known missense c.623 p.S208L 0.912 pfam_Tctex pfam_Tctex - no_errors TCTEX1D4 HGNC ENSG00000188396 20 5 20.00 20 0 0.00 TCTEX1D4 343521 genome.wustl.edu 37 1 45272313 45272313 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 45272313 45272313 G T SNP TCTEX1D4 ENST00000339355 human ensembl 70_37 -1 known missense c.28 p.R10S 0.000 NULL pfam_Tctex - no_errors TCTEX1D4 HGNC ENSG00000188396 90 37 29.13 79 0 0.00 TCTN1 79600 genome.wustl.edu 37 12 111078937 111078937 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111078937 111078937 G C SNP TCTN1 ENST00000397659 human ensembl 70_37 +1 known missense c.1087 p.E363Q 0.996 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 32 18 36.00 54 0 0.00 TCTN2 79867 genome.wustl.edu 37 12 124156119 124156119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 124156119 124156119 G A SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known missense c.148 p.E50K 0.211 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 68 49 41.88 73 0 0.00 TCTN2 79867 genome.wustl.edu 37 12 124158229 124158229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 124158229 124158229 C G SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known missense c.335 p.S112C 0.000 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 140 48 25.53 205 0 0.00 TCTN2 79867 genome.wustl.edu 37 12 124158264 124158264 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 124158264 124158264 C T SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known silent c.370 p.L124 0.964 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 207 54 20.69 263 0 0.00 TCTN2 79867 genome.wustl.edu 37 12 124171412 124171412 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 124171412 124171412 C T SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known silent c.594 p.F198 0.874 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 62 8 11.43 94 0 0.00 TDGF1 6997 genome.wustl.edu 37 3 46620626 46620626 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 46620626 46620626 G C SNP TDGF1 ENST00000296145 human ensembl 70_37 +1 known missense c.77 p.G26A 0.916 pirsf_Cripto_growth_factor pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom - no_errors TDGF1 HGNC ENSG00000241186 172 39 18.48 245 0 0.00 TDGF1 6997 genome.wustl.edu 37 3 46621265 46621265 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 46621265 46621265 G A SNP TDGF1 ENST00000296145 human ensembl 70_37 +1 known missense c.260 p.G87E 0.997 pirsf_Cripto_growth_factor,pfscan_EG-like_dom pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom - no_errors TDGF1 HGNC ENSG00000241186 219 33 13.10 323 0 0.00 TDGF1 6997 genome.wustl.edu 37 3 46658764 46658764 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 46658764 46658764 A C SNP TDGF1 ENST00000444264 human ensembl 70_37 +1 putative rna NULL NULL 0.971 - - - no_errors TDGF1 HGNC ENSG00000241186 10 14 58.33 53 0 0.00 TDH 157739 genome.wustl.edu 37 8 11197165 11197165 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 11197165 11197165 C T SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors TDH HGNC ENSG00000154316 20 6 23.08 54 0 0.00 TDH 157739 genome.wustl.edu 37 8 11218933 11218933 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 11218933 11218933 C A SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TDH HGNC ENSG00000154316 6 11 64.71 40 0 0.00 TDH 157739 genome.wustl.edu 37 8 11223212 11223212 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 11223212 11223212 G C SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 0.625 - - - no_errors TDH HGNC ENSG00000154316 25 7 21.88 40 0 0.00 TDP1 55775 genome.wustl.edu 37 14 90429835 90429835 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90429835 90429835 G C SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.377 p.R126T 0.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 28 11 28.21 49 0 0.00 TDP1 55775 genome.wustl.edu 37 14 90429894 90429894 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 90429894 90429894 G A SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.436 p.E146K 0.025 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 16 14 46.67 37 0 0.00 TDP1 55775 genome.wustl.edu 37 14 90429933 90429933 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90429933 90429933 G C SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.475 p.D159H 0.114 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 33 9 21.43 56 0 0.00 TDP2 51567 genome.wustl.edu 37 6 24658980 24658980 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 24658980 24658980 A C SNP TDP2 ENST00000478285 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors TDP2 HGNC ENSG00000111802 2 4 66.67 26 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115947636 115947636 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 115947636 115947636 G A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.46 p.E16K 0.986 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 29 19 39.58 68 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115947675 115947675 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 115947675 115947675 G C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.85 p.E29Q 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 33 4 10.81 44 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115973251 115973251 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115973251 115973251 C G SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.1978 p.H660D 0.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 69 14 16.67 64 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115973275 115973275 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 115973275 115973275 C A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.2002 p.L668I 0.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 27 33 55.00 43 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115973798 115973798 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 115973798 115973798 G A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.2137 p.D713N 0.767 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 46 32 41.03 76 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115973875 115973875 + Splice_Site SNP T T C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 115973875 115973875 T C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known splice_site c.2212+2 e15+2 1.000 - - - no_errors TDRD1 HGNC ENSG00000095627 30 25 45.45 40 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115985841 115985841 + Missense_Mutation SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 10 115985841 115985841 G A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.3041 p.G1014E 0.015 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 35 4 10.26 31 0 0.00 TDRD1 56165 genome.wustl.edu 37 10 115986992 115986992 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 115986992 115986992 G C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.3337 p.D1113H 0.999 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 166 38 18.63 186 0 0.00 TDRD10 126668 genome.wustl.edu 37 1 154516547 154516547 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154516547 154516547 C T SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known silent c.612 p.V204 0.000 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 51 33 39.29 75 0 0.00 TDRD10 126668 genome.wustl.edu 37 1 154516899 154516899 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 154516899 154516899 G A SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known missense c.703 p.E235K 0.001 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 26 10 27.78 15 0 0.00 TDRD10 126668 genome.wustl.edu 37 1 154516982 154516982 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 154516982 154516982 C T SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known silent c.786 p.H262 0.018 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 18 4 18.18 22 0 0.00 TDRD10 126668 genome.wustl.edu 37 1 154520221 154520221 + RNA SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 154520221 154520221 G T SNP TDRD10 ENST00000479937 human ensembl 70_37 +1 known rna NULL NULL 0.284 - - - no_errors TDRD10 HGNC ENSG00000163239 28 4 12.12 47 0 0.00 TDRD12 91646 genome.wustl.edu 37 19 33247088 33247088 + Splice_Site SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 33247088 33247088 G T SNP TDRD12 ENST00000444215 human ensembl 70_37 +1 known splice_site c.772+1 e7+1 1.000 - - - no_errors TDRD12 HGNC ENSG00000173809 26 4 13.33 18 0 0.00 TDRD3 81550 genome.wustl.edu 37 13 61041493 61041493 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 61041493 61041493 G A SNP TDRD3 ENST00000535286 human ensembl 70_37 +1 known missense c.475 p.E159K 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 29 18 38.30 77 0 0.00 TDRD3 81550 genome.wustl.edu 37 13 61103127 61103127 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 61103127 61103127 G A SNP TDRD3 ENST00000535286 human ensembl 70_37 +1 known missense c.1768 p.E590K 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 60 22 26.83 53 0 0.00 TDRD5 163589 genome.wustl.edu 37 1 179561978 179561978 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 179561978 179561978 G A SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known silent c.228 p.L76 0.634 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 109 14 11.38 83 0 0.00 TDRD5 163589 genome.wustl.edu 37 1 179562912 179562912 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 179562912 179562912 G A SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.550 p.D184N 0.996 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 17 5 22.73 46 0 0.00 TDRD5 163589 genome.wustl.edu 37 1 179587787 179587787 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 179587787 179587787 C G SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.885 p.I295M 0.526 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 17 13 43.33 29 0 0.00 TDRD5 163589 genome.wustl.edu 37 1 179659947 179659947 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 179659947 179659947 G C SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.2977 p.E993Q 0.234 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 12 24 66.67 32 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46656384 46656384 + Silent SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 6 46656384 46656384 G T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known silent c.519 p.V173 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 27 4 12.90 36 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46656457 46656457 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 46656457 46656457 C T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.592 p.R198W 0.040 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 23 22 48.89 38 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46656958 46656958 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 46656958 46656958 G C SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1093 p.E365Q 0.998 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 65 8 10.96 96 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46657139 46657139 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 46657139 46657139 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1274 p.G425E 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 4 17 80.95 30 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46657383 46657383 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 46657383 46657383 G T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1518 p.L506F 0.930 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 65 43 39.81 87 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46658902 46658902 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 46658902 46658902 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.3037 p.E1013K 0.567 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 28 21 42.86 28 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46659321 46659321 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46659321 46659321 T G SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.3456 p.I1152M 0.377 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 13 4 23.53 27 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46660090 46660090 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 46660090 46660090 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.4225 p.A1409T 0.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 25 11 30.56 29 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46660606 46660606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46660606 46660606 G T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.4741 p.D1581Y 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 17 6 26.09 47 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46660917 46660917 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 46660917 46660917 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known silent c.5052 p.L1684 0.716 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 45 13 22.41 59 0 0.00 TDRD6 221400 genome.wustl.edu 37 6 46661389 46661389 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 46661389 46661389 G C SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.5524 p.D1842H 0.262 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 32 11 25.58 17 0 0.00 TDRG1 732253 genome.wustl.edu 37 6 40347108 40347109 + RNA INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 40347108 40347109 - T INS TDRG1 ENST00000373170 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TDRG1 HGNC ENSG00000204091 42 6 12.50 60 0 0.00 TDRKH 11022 genome.wustl.edu 37 1 151752566 151752566 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 151752566 151752566 G A SNP TDRKH ENST00000368822 human ensembl 70_37 -1 known silent c.282 p.G94 0.714 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 78 24 23.53 39 0 0.00 TEAD1 7003 genome.wustl.edu 37 11 12886424 12886424 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 12886424 12886424 C T SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known missense c.262 p.R88C 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 103 31 23.13 178 0 0.00 TEAD1 7003 genome.wustl.edu 37 11 12901304 12901304 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 12901304 12901304 C G SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known nonsense c.335 p.S112* 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 51 14 21.54 51 0 0.00 TEAD1 7003 genome.wustl.edu 37 11 12923610 12923610 + Nonsense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 12923610 12923610 G T SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known nonsense c.778 p.E260* 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 33 4 10.81 80 0 0.00 TEAD2 8463 genome.wustl.edu 37 19 49850490 49850490 + Missense_Mutation SNP T T C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 49850490 49850490 T C SNP TEAD2 ENST00000311227 human ensembl 70_37 -1 known missense c.866 p.Y289C 0.998 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 177 93 34.44 190 0 0.00 TEAD4 7004 genome.wustl.edu 37 12 3120170 3120170 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 3120170 3120170 G T SNP TEAD4 ENST00000359864 human ensembl 70_37 +1 known missense c.227 p.G76V 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 16 5 23.81 63 0 0.00 TECPR1 25851 genome.wustl.edu 37 7 97852404 97852404 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 97852404 97852404 C G SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.2832 p.E944D 0.995 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 10 5 33.33 33 0 0.00 TECPR1 25851 genome.wustl.edu 37 7 97857364 97857364 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 97857364 97857364 C T SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known silent c.2478 p.E826 1.000 smart_Peroxin/Ferlin pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 92 62 40.26 149 0 0.00 TECPR1 25851 genome.wustl.edu 37 7 97860411 97860411 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97860411 97860411 G C SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.2147 p.S716C 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 46 33 41.77 57 0 0.00 TECPR1 25851 genome.wustl.edu 37 7 97862862 97862862 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97862862 97862862 G C SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.1543 p.L515V 0.087 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 17 9 34.62 29 0 0.00 TECPR2 9895 genome.wustl.edu 37 14 102829407 102829407 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 102829407 102829407 C T SNP TECPR2 ENST00000561228 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TECPR2 HGNC ENSG00000196663 32 24 42.86 19 0 0.00 TECPR2 9895 genome.wustl.edu 37 14 102873791 102873791 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 102873791 102873791 G C SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known silent c.336 p.G112 0.760 superfamily_WD40_repeat_dom pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 16 7 30.43 46 0 0.00 TECPR2 9895 genome.wustl.edu 37 14 102900646 102900646 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 102900646 102900646 C T SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known nonsense c.1492 p.Q498* 0.398 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 47 7 12.96 71 0 0.00 TECPR2 9895 genome.wustl.edu 37 14 102901414 102901414 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 102901414 102901414 G A SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known missense c.2260 p.E754K 1.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 11 6 35.29 20 0 0.00 TECPR2 9895 genome.wustl.edu 37 14 102918826 102918826 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 102918826 102918826 G A SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known missense c.3502 p.E1168K 0.993 superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 33 12 26.67 54 0 0.00 TECTA 7007 genome.wustl.edu 37 11 120989131 120989131 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 120989131 120989131 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.907 p.E303K 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 94 32 25.40 150 0 0.00 TECTA 7007 genome.wustl.edu 37 11 120998545 120998545 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 120998545 120998545 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.1859 p.S620L 0.999 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 62 42 40.38 61 0 0.00 TECTA 7007 genome.wustl.edu 37 11 120998861 120998861 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 120998861 120998861 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known silent c.2175 p.D725 0.245 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 32 4 11.11 29 0 0.00 TECTA 7007 genome.wustl.edu 37 11 121031101 121031101 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 121031101 121031101 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known silent c.4947 p.Q1649 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 21 4 16.00 25 0 0.00 TECTA 7007 genome.wustl.edu 37 11 121037448 121037448 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 121037448 121037448 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known nonsense c.5545 p.Q1849* 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 41 18 30.51 30 0 0.00 TECTA 7007 genome.wustl.edu 37 11 121060587 121060587 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 121060587 121060587 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.6365 p.R2122K 1.000 smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 13 5 27.78 33 0 0.00 TEDDM1 127670 genome.wustl.edu 37 1 182369123 182369123 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 182369123 182369123 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.498 p.M166I 0.002 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC ENSG00000203730 24 11 31.43 34 0 0.00 TEDDM1 127670 genome.wustl.edu 37 1 182369123 182369123 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 182369123 182369123 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.498 p.M166I 0.002 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC ENSG00000203730 16 8 33.33 27 0 0.00 TEDDM1 127670 genome.wustl.edu 37 1 182369456 182369456 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 182369456 182369456 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.165 p.M55I 0.001 NULL pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC ENSG00000203730 24 25 51.02 41 0 0.00 TEF 7008 genome.wustl.edu 37 22 41783471 41783471 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 41783471 41783471 G A SNP TEF ENST00000266304 human ensembl 70_37 +1 known missense c.274 p.E92K 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors TEF HGNC ENSG00000167074 39 9 18.75 74 0 0.00 TEFM 79736 genome.wustl.edu 37 17 29226337 29226337 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29226337 29226337 C T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known silent c.933 p.A311 0.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 21 8 27.59 44 0 0.00 TEFM 79736 genome.wustl.edu 37 17 29226360 29226360 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29226360 29226360 G T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known missense c.910 p.L304I 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 20 7 25.93 39 0 0.00 TEFM 79736 genome.wustl.edu 37 17 29227455 29227455 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 29227455 29227455 G T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known nonsense c.621 p.Y207* 0.897 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 22 5 18.52 31 0 0.00 TEFM 79736 genome.wustl.edu 37 17 29227461 29227461 + Silent SNP T T G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 29227461 29227461 T G SNP TEFM ENST00000581216 human ensembl 70_37 -1 known silent c.615 p.G205 0.988 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 22 7 24.14 19 0 0.00 TEK 7010 genome.wustl.edu 37 9 27109601 27109601 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 27109601 27109601 G A SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.13 p.A5T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 47 31 39.24 95 0 0.00 TEK 7010 genome.wustl.edu 37 9 27169490 27169490 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 27169490 27169490 C T SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.491 p.S164L 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 299 137 31.42 396 0 0.00 TEK 7010 genome.wustl.edu 37 9 27183515 27183515 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 27183515 27183515 T G SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.1089 p.S363R 1.000 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 20 10 33.33 48 0 0.00 TEK 7010 genome.wustl.edu 37 9 27203064 27203064 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 27203064 27203064 G A SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.2156 p.G719E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 28 7 20.00 65 0 0.00 TEK 7010 genome.wustl.edu 37 9 27203078 27203078 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 27203078 27203078 G T SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.2170 p.A724S 0.023 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 14 3 17.65 34 0 0.00 TEKT1 83659 genome.wustl.edu 37 17 6704097 6704097 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704097 6704097 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.1018 p.E340K 0.988 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 48 32 40.00 102 0 0.00 TEKT1 83659 genome.wustl.edu 37 17 6704101 6704101 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6704101 6704101 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.1014 p.M338I 0.065 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 37 9 19.57 41 0 0.00 TEKT1 83659 genome.wustl.edu 37 17 6704202 6704202 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704202 6704202 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.913 p.D305N 0.981 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 43 27 38.57 81 0 0.00 TEKT1 83659 genome.wustl.edu 37 17 6704217 6704217 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704217 6704217 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.898 p.E300K 0.980 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 38 22 36.67 76 0 0.00 TEKT1 83659 genome.wustl.edu 37 17 6718600 6718600 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 6718600 6718600 G C SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.511 p.L171V 0.993 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 6 24 80.00 51 0 0.00 TEKT2 27285 genome.wustl.edu 37 1 36550612 36550612 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 36550612 36550612 G A SNP TEKT2 ENST00000207457 human ensembl 70_37 +1 known silent c.90 p.L30 0.811 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 21 10 32.26 36 0 0.00 TEKT2 27285 genome.wustl.edu 37 1 36550776 36550776 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 36550776 36550776 G A SNP TEKT2 ENST00000207457 human ensembl 70_37 +1 known missense c.169 p.E57K 1.000 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 111 22 16.54 171 0 0.00 TEKT4 150483 genome.wustl.edu 37 2 95542304 95542304 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 95542304 95542304 G A SNP TEKT4 ENST00000295201 human ensembl 70_37 +1 known silent c.1098 p.L366 0.962 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 34 5 12.82 54 0 0.00 TEKT4 150483 genome.wustl.edu 37 2 95542476 95542476 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 95542476 95542476 C T SNP TEKT4 ENST00000295201 human ensembl 70_37 +1 known missense c.1270 p.R424C 0.689 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 22 5 18.52 26 0 0.00 TEKT4P2 100132288 genome.wustl.edu 37 21 9907319 9907319 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 9907319 9907319 G T SNP TEKT4P2 ENST00000416067 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TEKT4P2 HGNC ENSG00000188681 287 41 12.46 369 0 0.00 TEKT4P2 100132288 genome.wustl.edu 37 21 9908223 9908223 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 9908223 9908223 G A SNP TEKT4P2 ENST00000416067 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TEKT4P2 HGNC ENSG00000188681 32 6 15.79 30 0 0.00 TEKT5 146279 genome.wustl.edu 37 16 10721427 10721427 + RNA SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 10721427 10721427 G A SNP TEKT5 ENST00000574923 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TEKT5 HGNC ENSG00000153060 41 14 25.45 62 0 0.00 TEKT5 146279 genome.wustl.edu 37 16 10788238 10788238 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 10788238 10788238 C G SNP TEKT5 ENST00000283025 human ensembl 70_37 -1 known missense c.493 p.E165Q 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 242 42 14.58 231 1 0.43 TELO2 9894 genome.wustl.edu 37 16 1555439 1555439 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1555439 1555439 C G SNP TELO2 ENST00000262319 human ensembl 70_37 +1 known missense c.1871 p.S624C 0.998 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 84 27 24.32 97 0 0.00 TELO2 9894 genome.wustl.edu 37 16 1555520 1555520 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1555520 1555520 C G SNP TELO2 ENST00000262319 human ensembl 70_37 +1 known missense c.1952 p.S651C 0.004 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 55 20 26.67 67 0 0.00 TENC1 23371 genome.wustl.edu 37 12 53451366 53451366 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 53451366 53451366 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known silent c.891 p.F297 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 31 18 36.73 67 0 0.00 TENC1 23371 genome.wustl.edu 37 12 53451429 53451429 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 53451429 53451429 C G SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known silent c.954 p.L318 0.365 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 40 8 16.67 49 0 0.00 TENC1 23371 genome.wustl.edu 37 12 53454245 53454245 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 53454245 53454245 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known missense c.2704 p.R902W 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 30 7 18.92 48 0 0.00 TENC1 23371 genome.wustl.edu 37 12 53454520 53454520 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 53454520 53454520 G A SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known missense c.2860 p.E954K 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 27 22 44.90 77 0 0.00 TENC1 23371 genome.wustl.edu 37 12 53454751 53454751 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53454751 53454751 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known nonsense c.3091 p.R1031* 0.788 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 20 30 60.00 75 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123514396 123514396 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 123514396 123514396 C G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.8189 p.G2730A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 43 32 42.67 56 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123518301 123518301 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 123518301 123518301 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.6480 p.Y2160 0.359 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 67 20 22.73 100 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123525989 123525989 + Missense_Mutation SNP A A T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a X 123525989 123525989 A T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.5601 p.N1867K 0.999 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 75 43 36.44 105 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123538975 123538975 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 123538975 123538975 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.5297 p.S1766L 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 167 62 27.07 239 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123556133 123556133 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123556133 123556133 T G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.4460 p.D1487A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 33 25 43.10 85 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123556368 123556368 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 123556368 123556368 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.4225 p.R1409C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 27 16 37.21 39 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123615768 123615768 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 123615768 123615768 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.3763 p.E1255K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 14 16 53.33 38 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123630972 123630972 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 123630972 123630972 G C SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.3589 p.P1197A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 3 28 90.32 62 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123657466 123657466 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 123657466 123657466 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.2781 p.L927 0.013 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 34 26 43.33 49 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123680777 123680777 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 123680777 123680777 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.2598 p.L866 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 34 13 27.66 54 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123695634 123695634 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 123695634 123695634 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.2321 p.R774Q 0.999 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 170 48 22.02 189 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123699264 123699264 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 123699264 123699264 C G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.2224 p.E742Q 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 20 11 35.48 63 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123787498 123787498 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123787498 123787498 G T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.1304 p.S435Y 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 30 18 37.50 70 0 0.00 TENM1 10178 genome.wustl.edu 37 X 123838977 123838977 + Missense_Mutation SNP A A T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 123838977 123838977 A T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.901 p.S301T 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 316 69 17.56 267 0 0.00 TENM1 10178 genome.wustl.edu 37 X 124029919 124029919 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 124029919 124029919 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.389 p.S130L 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 67 37 35.58 99 0 0.00 TENM1 10178 genome.wustl.edu 37 X 124097521 124097521 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 124097521 124097521 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 34 13 27.66 51 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167489109 167489109 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167489109 167489109 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.1354 p.E452K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 36 16 30.19 68 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167551886 167551886 + Silent SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 167551886 167551886 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.2040 p.H680 0.982 pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 67 16 19.28 59 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167553926 167553926 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 167553926 167553926 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.2377 p.G793S 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 14 17 54.84 22 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167589659 167589659 + Silent SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 167589659 167589659 G T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.2466 p.L822 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 73 36 33.03 87 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167626875 167626875 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 167626875 167626875 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.3169 p.H1057Y 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 91 11 10.78 92 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167630771 167630771 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 167630771 167630771 G C SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.3508 p.E1170Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 53 18 25.35 94 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167642273 167642273 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 167642273 167642273 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.4074 p.P1358 0.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 34 18 34.62 61 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167645602 167645602 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 167645602 167645602 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.4706 p.A1569V 1.000 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 222 35 13.57 250 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167645660 167645660 + Silent SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 167645660 167645660 C A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.4764 p.P1588 0.001 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 98 26 20.97 209 1 0.48 TENM2 57451 genome.wustl.edu 37 5 167671458 167671458 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167671458 167671458 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.5554 p.D1852N 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 42 10 19.23 56 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167674062 167674062 + Missense_Mutation SNP T T C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 5 167674062 167674062 T C SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.6118 p.F2040L 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 18 8 30.77 29 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167674346 167674346 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 167674346 167674346 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.6402 p.V2134 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 43 48 52.75 61 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167675223 167675223 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 167675223 167675223 C G SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.7279 p.Q2427E 0.999 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 44 18 29.03 58 0 0.00 TENM2 57451 genome.wustl.edu 37 5 167687383 167687383 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 167687383 167687383 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.7528 p.E2510K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 53 17 24.29 92 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183271042 183271042 + RNA SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 183271042 183271042 G C SNP TENM3 ENST00000513201 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TENM3 HGNC ENSG00000218336 55 17 23.61 67 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183601861 183601861 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 183601861 183601861 C G SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known nonsense c.1805 p.S602* 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 15 13 44.83 15 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183603092 183603092 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 183603092 183603092 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.1960 p.G654S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 53 27 33.75 73 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183664378 183664378 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 183664378 183664378 C T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.3435 p.V1145 0.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 57 16 21.92 84 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183676343 183676343 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 183676343 183676343 T G SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.4823 p.F1608C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 10 5 33.33 38 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183714672 183714672 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 183714672 183714672 G T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.6847 p.A2283S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 21 11 34.38 33 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183720851 183720851 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 183720851 183720851 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.7447 p.A2483T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 25 11 30.56 14 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183720913 183720913 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 183720913 183720913 C T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.7509 p.A2503 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 10 6 37.50 21 0 0.00 TENM3 55714 genome.wustl.edu 37 4 183721066 183721066 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 183721066 183721066 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.7662 p.T2554 0.998 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 18 15 45.45 19 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78369502 78369502 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 78369502 78369502 C A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.7911 p.G2637 0.998 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 3 12 80.00 22 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78381249 78381249 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 78381249 78381249 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.6141 p.Q2047 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 74 46 38.33 105 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78381424 78381424 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 78381424 78381424 A G SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.5966 p.I1989T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 22 4 15.38 35 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78381478 78381478 + Nonsense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 78381478 78381478 G C SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known nonsense c.5912 p.S1971* 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 20 5 20.00 26 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78387290 78387290 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 78387290 78387290 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.5403 p.T1801 0.494 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 68 40 37.04 82 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78412572 78412572 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 78412572 78412572 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.5086 p.E1696K 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 9 4 30.77 17 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78412896 78412896 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 78412896 78412896 G A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.4762 p.L1588 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 100 58 36.71 194 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78412896 78412896 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 78412896 78412896 G A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.4762 p.L1588 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 26 15 36.59 25 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78437208 78437208 + Missense_Mutation SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 78437208 78437208 T C SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.3466 p.T1156A 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 199 34 14.47 293 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78516464 78516464 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 78516464 78516464 C A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.2052 p.W684C 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 16 3 15.79 31 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78574141 78574141 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 11 78574141 78574141 G A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.1121 p.P374L 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 7 18 72.00 67 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78601032 78601032 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 78601032 78601032 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.882 p.P294 0.004 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 20 24 53.33 55 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78673251 78673251 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 78673251 78673251 C G SNP TENM4 ENST00000533013 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TENM4 HGNC ENSG00000149256 22 18 45.00 68 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78780941 78780941 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 78780941 78780941 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.49 p.D17N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 31 18 36.73 53 0 0.00 TENM4 26011 genome.wustl.edu 37 11 78926879 78926879 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 78926879 78926879 G A SNP TENM4 ENST00000528688 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors TENM4 HGNC ENSG00000149256 38 11 22.45 52 0 0.00 TENM4 26011 genome.wustl.edu 37 11 79151904 79151905 + RNA INS - - GT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 79151904 79151905 - GT INS TENM4 ENST00000531583 human ensembl 70_37 -1 known rna NULL NULL 0.072:0.244 - - - no_errors TENM4 HGNC ENSG00000149256 37 18 32.73 15 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20841187 20841187 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 20841187 20841187 C A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.6934 p.A2312S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 10 11 52.38 21 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20841447 20841447 + Nonsense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 14 20841447 20841447 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known nonsense c.6796 p.Q2266* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 18 7 28.00 18 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20842653 20842653 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 20842653 20842653 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.6406 p.E2136Q 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 13 3 18.75 32 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20845581 20845581 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20845581 20845581 T A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.5946 p.V1982 0.004 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 43 16 27.12 74 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20849739 20849739 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20849739 20849739 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.4531 p.E1511Q 0.420 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 23 6 20.69 27 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20852329 20852329 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 20852329 20852329 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.3402 p.F1134 0.993 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 32 17 34.69 53 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20852820 20852820 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20852820 20852820 C T SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.3160 p.A1054T 0.398 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 18 12 40.00 50 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20854746 20854746 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20854746 20854746 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.2721 p.F907 1.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 15 8 34.78 25 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20859825 20859825 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 20859825 20859825 C T SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.2030 p.R677H 1.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 76 15 16.48 122 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20864069 20864069 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 20864069 20864069 G C SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.1699 p.L567V 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 23 12 34.29 41 0 0.00 TEP1 7011 genome.wustl.edu 37 14 20873630 20873630 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 20873630 20873630 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.850 p.E284Q 0.999 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 62 13 17.33 102 0 0.00 TERC 7012 genome.wustl.edu 37 3 169482441 169482441 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 169482441 169482441 G A SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors TERC HGNC ENSG00000200182 57 7 10.94 34 0 0.00 TERC 7012 genome.wustl.edu 37 3 169482504 169482504 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 169482504 169482504 C T SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TERC HGNC ENSG00000200182 39 19 32.20 29 0 0.00 TERC 7012 genome.wustl.edu 37 3 169482826 169482826 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 169482826 169482826 C T SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors TERC HGNC ENSG00000200182 49 31 38.75 85 0 0.00 TERF1 7013 genome.wustl.edu 37 8 73932993 73932993 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 73932993 73932993 G C SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.490 p.E164Q 0.971 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 37 7 15.91 51 0 0.00 TERF1 7013 genome.wustl.edu 37 8 73939209 73939209 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 73939209 73939209 G A SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.809 p.R270K 0.143 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 22 18 45.00 42 0 0.00 TERF1 7013 genome.wustl.edu 37 8 73939210 73939210 + Missense_Mutation SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 73939210 73939210 A T SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.810 p.R270S 0.111 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 22 18 45.00 42 0 0.00 TERF1 7013 genome.wustl.edu 37 8 73951440 73951440 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 8 73951440 73951440 G T SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.1129 p.A377S 0.000 superfamily_Homeodomain-like,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 31 4 11.11 58 0 0.00 TERF1 7013 genome.wustl.edu 37 8 73958219 73958219 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 73958219 73958219 G C SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.1167 p.K389N 0.661 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 44 17 27.87 55 0 0.00 TERT 7015 genome.wustl.edu 37 5 1280343 1280343 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 1280343 1280343 G T SNP TERT ENST00000310581 human ensembl 70_37 -1 known missense c.1880 p.P627H 0.090 pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 36 10 21.74 68 0 0.00 TERT 7015 genome.wustl.edu 37 5 1293768 1293768 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 1293768 1293768 C T SNP TERT ENST00000310581 human ensembl 70_37 -1 known silent c.1233 p.T411 0.002 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 34 4 10.53 44 0 0.00 TES 26136 genome.wustl.edu 37 7 115892027 115892027 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 115892027 115892027 G A SNP TES ENST00000358204 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 73 34 31.78 65 0 0.00 TESC 54997 genome.wustl.edu 37 12 117479757 117479757 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 117479757 117479757 G T SNP TESC ENST00000392545 human ensembl 70_37 -1 known missense c.721 p.L241M 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TESC HGNC ENSG00000088992 14 4 22.22 36 0 0.00 TESK1 7016 genome.wustl.edu 37 9 35607008 35607008 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 35607008 35607008 G A SNP TESK1 ENST00000467424 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TESK1 HGNC ENSG00000107140 121 16 11.68 101 0 0.00 TESK1 7016 genome.wustl.edu 37 9 35608000 35608000 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 35608000 35608000 C T SNP TESK1 ENST00000336395 human ensembl 70_37 +1 known missense c.787 p.R263C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 36 8 18.18 72 0 0.00 TESK2 10420 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC ENSG00000070759 20 3 13.04 12 0 0.00 TESK2 10420 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC ENSG00000070759 75 13 14.77 51 0 0.00 TESK2 10420 genome.wustl.edu 37 1 45809796 45809796 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 45809796 45809796 G T SNP TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors TESK2 HGNC ENSG00000070759 22 10 31.25 26 0 0.00 TESK2 10420 genome.wustl.edu 37 1 45810273 45810273 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 45810273 45810273 G A SNP TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors TESK2 HGNC ENSG00000070759 77 9 10.47 74 0 0.00 TESK2 10420 genome.wustl.edu 37 1 45810904 45810904 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 45810904 45810904 C T SNP TESK2 ENST00000372086 human ensembl 70_37 -1 known missense c.1324 p.D442N 0.985 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 16 13 44.83 43 0 0.00 TESPA1 9840 genome.wustl.edu 37 12 55354986 55354986 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 55354986 55354986 G T SNP TESPA1 ENST00000316577 human ensembl 70_37 -1 known missense c.1533 p.H511Q 0.001 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 35 4 10.26 32 0 0.00 TET1 80312 genome.wustl.edu 37 10 70332597 70332597 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 70332597 70332597 G C SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.502 p.D168H 0.001 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 24 5 17.24 27 0 0.00 TET1 80312 genome.wustl.edu 37 10 70333214 70333215 + Frame_Shift_Ins INS - - C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 70333214 70333215 - C INS TET1 ENST00000373644 human ensembl 70_37 +1 known frame_shift_ins c.1119_1120 p.H373fs 0.725:0.713 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 54 8 12.90 26 0 0.00 TET1 80312 genome.wustl.edu 37 10 70404465 70404465 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 70404465 70404465 A G SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.1979 p.D660G 0.941 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 17 9 34.62 17 0 0.00 TET1 80312 genome.wustl.edu 37 10 70404519 70404519 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 70404519 70404519 G T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2033 p.G678V 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 36 4 10.00 34 0 0.00 TET1 80312 genome.wustl.edu 37 10 70404804 70404804 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 70404804 70404804 C T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2318 p.S773L 0.047 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 12 9 42.86 17 0 0.00 TET1 80312 genome.wustl.edu 37 10 70405157 70405157 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 70405157 70405157 G T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2671 p.V891L 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 42 13 23.64 52 0 0.00 TET1 80312 genome.wustl.edu 37 10 70405425 70405425 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 70405425 70405425 C T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2939 p.S980L 0.001 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 41 13 24.07 67 0 0.00 TET1 80312 genome.wustl.edu 37 10 70406339 70406339 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 10 70406339 70406339 C G SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.3853 p.Q1285E 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 25 8 24.24 59 0 0.00 TET1 80312 genome.wustl.edu 37 10 70426846 70426846 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 10 70426846 70426846 C T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known silent c.4506 p.V1502 0.973 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 16 13 44.83 29 0 0.00 TET1 80312 genome.wustl.edu 37 10 70441196 70441196 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 70441196 70441196 G A SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.4865 p.R1622Q 0.002 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 17 23 57.50 29 0 0.00 TET2 54790 genome.wustl.edu 37 4 106157306 106157306 + Nonsense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 106157306 106157306 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known nonsense c.2207 p.S736* 0.011 NULL NULL - no_errors TET2 HGNC ENSG00000168769 24 24 50.00 34 0 0.00 TET2 54790 genome.wustl.edu 37 4 106157380 106157380 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 106157380 106157380 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.2281 p.P761A 0.028 NULL NULL - no_errors TET2 HGNC ENSG00000168769 18 20 52.63 39 0 0.00 TET2 54790 genome.wustl.edu 37 4 106157383 106157383 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 106157383 106157383 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.2284 p.H762Y 0.961 NULL NULL - no_errors TET2 HGNC ENSG00000168769 3 5 62.50 10 0 0.00 TET2 54790 genome.wustl.edu 37 4 106158171 106158171 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 106158171 106158171 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.3072 p.I1024M 0.972 NULL NULL - no_errors TET2 HGNC ENSG00000168769 10 14 58.33 26 0 0.00 TET2 54790 genome.wustl.edu 37 4 106158243 106158243 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 106158243 106158243 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known silent c.3144 p.L1048 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 27 11 28.95 30 0 0.00 TET2 54790 genome.wustl.edu 37 4 106164850 106164850 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 106164850 106164850 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known silent c.3718 p.L1240 0.997 NULL NULL - no_errors TET2 HGNC ENSG00000168769 40 24 36.92 34 0 0.00 TET2 54790 genome.wustl.edu 37 4 106190797 106190797 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 106190797 106190797 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.4075 p.R1359C 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 8 8 50.00 24 0 0.00 TET2 54790 genome.wustl.edu 37 4 106196258 106196258 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 106196258 106196258 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.4591 p.L1531V 0.001 NULL NULL - no_errors TET2 HGNC ENSG00000168769 21 11 33.33 34 0 0.00 TET3 200424 genome.wustl.edu 37 2 74273966 74273966 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 74273966 74273966 C A SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.517 p.L173M 0.915 NULL NULL - no_errors TET3 HGNC ENSG00000187605 18 12 40.00 24 0 0.00 TET3 200424 genome.wustl.edu 37 2 74274014 74274014 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74274014 74274014 C T SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.565 p.L189F 0.872 NULL NULL - no_errors TET3 HGNC ENSG00000187605 26 11 29.73 25 0 0.00 TET3 200424 genome.wustl.edu 37 2 74275303 74275303 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 74275303 74275303 C T SNP TET3 ENST00000409262 human ensembl 70_37 +1 known silent c.1854 p.S618 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 25 15 37.50 63 0 0.00 TET3 200424 genome.wustl.edu 37 2 74320052 74320052 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74320052 74320052 C A SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.2658 p.F886L 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 14 12 46.15 28 0 0.00 TET3 200424 genome.wustl.edu 37 2 74320665 74320665 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 74320665 74320665 G A SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.2734 p.E912K 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 89 10 10.10 70 0 0.00 TEX10 54881 genome.wustl.edu 37 9 103065971 103065971 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 103065971 103065971 G A SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known silent c.2619 p.L873 0.896 NULL pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 19 9 32.14 33 0 0.00 TEX10 54881 genome.wustl.edu 37 9 103102638 103102638 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 103102638 103102638 C T SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.1151 p.R384Q 1.000 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 63 31 32.98 40 0 0.00 TEX10 54881 genome.wustl.edu 37 9 103109309 103109309 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 103109309 103109309 A G SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.560 p.V187A 1.000 pfam_IPI1-like_dom,superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 22 7 24.14 24 0 0.00 TEX10 54881 genome.wustl.edu 37 9 103109610 103109610 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 103109610 103109610 G C SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.259 p.Q87E 0.898 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 20 13 39.39 28 0 0.00 TEX10 54881 genome.wustl.edu 37 9 103109670 103109670 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 9 103109670 103109670 G A SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.199 p.H67Y 1.000 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 216 47 17.87 262 0 0.00 TEX11 56159 genome.wustl.edu 37 X 69772050 69772050 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 69772050 69772050 A G SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.2491 p.S831P 0.000 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 77 9 10.47 137 0 0.00 TEX11 56159 genome.wustl.edu 37 X 69774555 69774555 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 69774555 69774555 C T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.2281 p.E761K 0.989 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 39 7 15.22 64 0 0.00 TEX11 56159 genome.wustl.edu 37 X 69945180 69945180 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69945180 69945180 G T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.902 p.S301Y 0.018 pfam_Meiosis_specific_SPO22 pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 6 4 40.00 23 0 0.00 TEX11 56159 genome.wustl.edu 37 X 70073170 70073170 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 70073170 70073170 C T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.378 p.M126I 0.989 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 21 23 52.27 31 0 0.00 TEX13A 56157 genome.wustl.edu 37 X 104464159 104464159 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 104464159 104464159 C T SNP TEX13A ENST00000372575 human ensembl 70_37 -1 known missense c.719 p.R240K 0.000 NULL NULL - no_errors TEX13A HGNC ENSG00000133149 59 20 25.32 68 0 0.00 TEX13B 56156 genome.wustl.edu 37 X 107224920 107224920 + Silent SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 107224920 107224920 C G SNP TEX13B ENST00000302917 human ensembl 70_37 -1 known silent c.438 p.L146 0.001 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 22 6 21.43 20 0 0.00 TEX13B 56156 genome.wustl.edu 37 X 107225195 107225195 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107225195 107225195 C A SNP TEX13B ENST00000302917 human ensembl 70_37 -1 known nonsense c.163 p.E55* 0.010 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 16 15 48.39 38 0 0.00 TEX14 56155 genome.wustl.edu 37 17 56650643 56650643 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 56650643 56650643 G C SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.3548 p.S1183C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 42 6 12.50 72 0 0.00 TEX14 56155 genome.wustl.edu 37 17 56661914 56661914 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 56661914 56661914 C A SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known nonsense c.3136 p.E1046* 0.479 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 26 12 31.58 50 0 0.00 TEX14 56155 genome.wustl.edu 37 17 56676893 56676893 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 56676893 56676893 C G SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 29 26 47.27 46 0 0.00 TEX14 56155 genome.wustl.edu 37 17 56679877 56679877 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 56679877 56679877 C T SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.1429 p.D477N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 25 6 19.35 46 0 0.00 TEX14 56155 genome.wustl.edu 37 17 56682358 56682358 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 56682358 56682358 G A SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known silent c.1335 p.I445 0.965 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 48 11 18.64 58 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30694585 30694585 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 30694585 30694585 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.8066 p.S2689C 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 89 19 17.59 63 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30695141 30695141 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 30695141 30695141 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.7510 p.L2504V 0.001 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 52 6 10.34 45 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30695415 30695415 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 30695415 30695415 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known silent c.7236 p.S2412 0.015 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 119 35 22.73 108 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30695564 30695564 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 30695564 30695564 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.7087 p.H2363D 0.303 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 64 8 10.96 144 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30700091 30700091 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30700091 30700091 G T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.6443 p.A2148D 0.013 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 4 5 55.56 12 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30700365 30700365 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 8 30700365 30700365 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.6169 p.E2057K 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 27 8 22.86 53 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30700686 30700686 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30700686 30700686 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5848 p.E1950Q 0.008 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 125 33 20.89 159 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30700917 30700917 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30700917 30700917 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5617 p.E1873K 0.918 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 16 8 33.33 16 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30700956 30700956 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30700956 30700956 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5578 p.E1860Q 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 24 5 17.24 22 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30701580 30701580 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30701580 30701580 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.4954 p.E1652Q 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 69 24 25.53 103 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30701580 30701580 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 30701580 30701580 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.4954 p.E1652Q 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 23 5 17.86 34 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30702941 30702941 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30702941 30702941 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.3593 p.S1198N 0.046 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 13 14 51.85 48 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30703646 30703646 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30703646 30703646 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.2888 p.R963Q 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 27 15 35.71 27 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30704421 30704421 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30704421 30704421 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.2113 p.E705K 0.557 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 108 44 28.95 163 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30704643 30704643 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 30704643 30704643 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 25 4 13.79 44 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30704759 30704759 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30704759 30704759 G T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1775 p.S592Y 0.994 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 6 4 36.36 34 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30704944 30704944 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30704944 30704944 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1590 p.L530F 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 109 25 18.66 125 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30704948 30704948 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30704948 30704948 A C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1586 p.I529S 0.013 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 5 2 28.57 11 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30705057 30705057 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 30705057 30705057 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1477 p.E493Q 0.946 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 7 5 41.67 25 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30705207 30705207 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30705207 30705207 C A SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known nonsense c.1327 p.E443* 0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 20 13 39.39 43 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30705231 30705231 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 8 30705231 30705231 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1303 p.E435Q 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 16 16 50.00 18 0 0.00 TEX15 56154 genome.wustl.edu 37 8 30717450 30717450 + RNA SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 30717450 30717450 C A SNP TEX15 ENST00000523186 human ensembl 70_37 -1 known rna NULL NULL 0.517 - - - no_errors TEX15 HGNC ENSG00000133863 48 23 32.39 68 0 0.00 TEX2 55852 genome.wustl.edu 37 17 62290374 62290374 + Silent SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 17 62290374 62290374 G A SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known silent c.1204 p.L402 0.997 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 143 39 21.43 203 1 0.49 TEX2 55852 genome.wustl.edu 37 17 62290576 62290576 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 62290576 62290576 C G SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.1002 p.L334F 0.998 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 35 13 27.08 33 0 0.00 TEX2 55852 genome.wustl.edu 37 17 62290817 62290817 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62290817 62290817 C T SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.761 p.R254Q 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 5 2 28.57 28 0 0.00 TEX2 55852 genome.wustl.edu 37 17 62291274 62291274 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 62291274 62291274 G C SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.304 p.Q102E 0.908 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 187 31 14.16 305 0 0.00 TEX2 55852 genome.wustl.edu 37 17 62291462 62291462 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 62291462 62291462 G A SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.116 p.S39L 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 78 36 31.58 73 0 0.00 TEX29 121793 genome.wustl.edu 37 13 111973291 111973291 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 13 111973291 111973291 C T SNP TEX29 ENST00000283547 human ensembl 70_37 +1 known silent c.54 p.F18 0.885 NULL NULL - no_errors TEX29 HGNC ENSG00000153495 8 11 57.89 22 0 0.00 TEX30 93081 genome.wustl.edu 37 13 103418790 103418790 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 103418790 103418790 C T SNP TEX30 ENST00000376032 human ensembl 70_37 -1 known nonsense c.645 p.W215* 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 52 6 10.34 57 0 0.00 TEX30 93081 genome.wustl.edu 37 13 103420662 103420662 + Splice_Site SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 103420662 103420662 C G SNP TEX30 ENST00000376032 human ensembl 70_37 -1 known splice_site c.247-1 e3-1 0.998 - - - no_errors TEX30 HGNC ENSG00000151287 23 8 25.81 33 0 0.00 TEX35 84066 genome.wustl.edu 37 1 178485789 178485789 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178485789 178485789 G A SNP TEX35 ENST00000319416 human ensembl 70_37 +1 known missense c.256 p.E86K 0.998 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 22 12 35.29 66 0 0.00 TEX35 84066 genome.wustl.edu 37 1 178491537 178491537 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 1 178491537 178491537 G A SNP TEX35 ENST00000319416 human ensembl 70_37 +1 known missense c.664 p.A222T 0.001 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 24 5 17.24 23 0 0.00 TEX36 387718 genome.wustl.edu 37 10 127344501 127344501 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 127344501 127344501 C T SNP TEX36 ENST00000368821 human ensembl 70_37 -1 known missense c.529 p.D177N 0.009 NULL NULL - no_errors TEX36 HGNC ENSG00000175018 35 11 23.91 76 0 0.00 TEX36 387718 genome.wustl.edu 37 10 127344508 127344508 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 127344508 127344508 G C SNP TEX36 ENST00000368821 human ensembl 70_37 -1 known missense c.522 p.F174L 0.000 NULL NULL - no_errors TEX36 HGNC ENSG00000175018 44 27 38.03 48 0 0.00 TEX9 374618 genome.wustl.edu 37 15 56686955 56686955 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 56686955 56686955 G C SNP TEX9 ENST00000352903 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 47 31 39.74 83 0 0.00 TF 7018 genome.wustl.edu 37 3 133478068 133478068 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 133478068 133478068 G A SNP TF ENST00000402696 human ensembl 70_37 +1 known silent c.1098 p.L366 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 19 9 32.14 27 0 0.00 TFAP2A 7020 genome.wustl.edu 37 6 10402730 10402730 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 10402730 10402730 A C SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.878 p.V293G 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 38 38 50.00 63 0 0.00 TFAP2A 7020 genome.wustl.edu 37 6 10404765 10404765 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 10404765 10404765 G A SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.740 p.S247L 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 10 7 41.18 17 0 0.00 TFAP2A 7020 genome.wustl.edu 37 6 10404781 10404781 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 10404781 10404781 C T SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.724 p.E242K 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 6 49 89.09 21 0 0.00 TFAP2B 7021 genome.wustl.edu 37 6 50803853 50803853 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 50803853 50803853 C T SNP TFAP2B ENST00000263046 human ensembl 70_37 +1 known silent c.708 p.G236 0.999 prints_TF_AP2_beta pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 40 22 35.48 62 0 0.00 TFAP2B 7021 genome.wustl.edu 37 6 50803940 50803940 + Silent SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 50803940 50803940 G T SNP TFAP2B ENST00000263046 human ensembl 70_37 +1 known silent c.795 p.R265 0.935 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 15 4 21.05 26 0 0.00 TFAP2C 7022 genome.wustl.edu 37 20 55212976 55212976 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 55212976 55212976 G A SNP TFAP2C ENST00000201031 human ensembl 70_37 +1 known silent c.1260 p.L420 0.980 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 10 10 50.00 25 0 0.00 TFAP2D 83741 genome.wustl.edu 37 6 50683114 50683114 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 50683114 50683114 G A SNP TFAP2D ENST00000008391 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 57 25 30.49 53 0 0.00 TFAP2D 83741 genome.wustl.edu 37 6 50740508 50740508 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 50740508 50740508 G A SNP TFAP2D ENST00000008391 human ensembl 70_37 +1 known silent c.1290 p.S430 0.991 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 9 6 40.00 39 0 0.00 TFAP2E 339488 genome.wustl.edu 37 1 36056287 36056287 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 36056287 36056287 C A SNP TFAP2E ENST00000373235 human ensembl 70_37 +1 known missense c.957 p.F319L 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC ENSG00000116819 97 14 12.61 72 0 0.00 TFB2M 64216 genome.wustl.edu 37 1 246714575 246714575 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 246714575 246714575 G T SNP TFB2M ENST00000366514 human ensembl 70_37 -1 known missense c.735 p.D245E 0.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 25 4 13.79 24 0 0.00 TFB2M 64216 genome.wustl.edu 37 1 246729346 246729346 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 246729346 246729346 G C SNP TFB2M ENST00000366514 human ensembl 70_37 -1 known missense c.95 p.T32R 0.000 pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 35 6 14.63 34 0 0.00 TFCP2 7024 genome.wustl.edu 37 12 51492613 51492613 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 51492613 51492613 G C SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.1365 p.I455M 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 62 20 24.39 98 0 0.00 TFCP2 7024 genome.wustl.edu 37 12 51503033 51503033 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 51503033 51503033 G T SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.588 p.F196L 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 36 23 38.98 46 0 0.00 TFCP2 7024 genome.wustl.edu 37 12 51512478 51512478 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 51512478 51512478 A C SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.200 p.F67C 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 18 3 14.29 63 0 0.00 TFCP2L1 29842 genome.wustl.edu 37 2 121989525 121989525 + Silent SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 121989525 121989525 C G SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known silent c.1218 p.L406 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 44 5 10.20 50 0 0.00 TFCP2L1 29842 genome.wustl.edu 37 2 121995282 121995282 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 121995282 121995282 G A SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known missense c.920 p.P307L 1.000 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 84 44 34.38 125 0 0.00 TFCP2L1 29842 genome.wustl.edu 37 2 122007206 122007206 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 122007206 122007206 G A SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known nonsense c.232 p.R78* 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 54 34 38.20 107 0 0.00 TFDP1 7027 genome.wustl.edu 37 13 114286076 114286076 + RNA SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 13 114286076 114286076 G C SNP TFDP1 ENST00000465174 human ensembl 70_37 +1 known rna NULL NULL 0.454 - - - no_errors TFDP1 HGNC ENSG00000198176 15 11 42.31 30 0 0.00 TFDP1 7027 genome.wustl.edu 37 13 114290892 114290892 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114290892 114290892 G T SNP TFDP1 ENST00000375370 human ensembl 70_37 +1 known missense c.883 p.D295Y 1.000 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC ENSG00000198176 24 10 29.41 72 0 0.00 TFDP1 7027 genome.wustl.edu 37 13 114292057 114292057 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114292057 114292057 T C SNP TFDP1 ENST00000544902 human ensembl 70_37 +1 known missense c.844 p.S282P 0.000 pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC ENSG00000198176 28 14 33.33 64 0 0.00 TFDP1 7027 genome.wustl.edu 37 13 114294630 114294630 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114294630 114294630 G T SNP TFDP1 ENST00000494812 human ensembl 70_37 +1 known rna NULL NULL 0.176 - - - no_errors TFDP1 HGNC ENSG00000198176 0 2 100.00 24 0 0.00 TFDP3 51270 genome.wustl.edu 37 X 132351492 132351492 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 132351492 132351492 C T SNP TFDP3 ENST00000310125 human ensembl 70_37 -1 known missense c.796 p.V266I 1.000 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP3 HGNC ENSG00000183434 71 20 21.98 88 0 0.00 TFE3 7030 genome.wustl.edu 37 X 48886990 48886990 + RNA SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 48886990 48886990 G C SNP TFE3 ENST00000478476 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TFE3 HGNC ENSG00000068323 60 13 17.81 63 0 0.00 TFE3 7030 genome.wustl.edu 37 X 48887123 48887123 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 48887123 48887123 C G SNP TFE3 ENST00000478476 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TFE3 HGNC ENSG00000068323 49 34 40.96 119 1 0.83 TFE3 7030 genome.wustl.edu 37 X 48889098 48889098 + RNA SNP A A T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 X 48889098 48889098 A T SNP TFE3 ENST00000495940 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TFE3 HGNC ENSG00000068323 42 6 12.50 85 0 0.00 TFE3 7030 genome.wustl.edu 37 X 48891275 48891275 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48891275 48891275 C G SNP TFE3 ENST00000315869 human ensembl 70_37 -1 known missense c.1026 p.L342F 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFE3 HGNC ENSG00000068323 17 18 51.43 45 0 0.00 TFE3 7030 genome.wustl.edu 37 X 48895555 48895555 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 48895555 48895555 C T SNP TFE3 ENST00000315869 human ensembl 70_37 -1 known missense c.865 p.G289R 0.991 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFE3 HGNC ENSG00000068323 73 27 27.00 95 0 0.00 TFEB 7942 genome.wustl.edu 37 6 41658858 41658858 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 41658858 41658858 G A SNP TFEB ENST00000230323 human ensembl 70_37 -1 known missense c.94 p.H32Y 0.999 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEB HGNC ENSG00000112561 24 18 42.86 34 0 0.00 TFEC 22797 genome.wustl.edu 37 7 115580805 115580805 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 115580805 115580805 A G SNP TFEC ENST00000265440 human ensembl 70_37 -1 known missense c.844 p.F282L 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEC HGNC ENSG00000105967 25 11 30.56 59 0 0.00 TFEC 22797 genome.wustl.edu 37 7 115624472 115624472 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 115624472 115624472 G C SNP TFEC ENST00000265440 human ensembl 70_37 -1 known missense c.24 p.I8M 0.175 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEC HGNC ENSG00000105967 32 6 15.79 24 0 0.00 TFF1 7031 genome.wustl.edu 37 21 43786545 43786545 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 43786545 43786545 G T SNP TFF1 ENST00000291527 human ensembl 70_37 -1 known silent c.60 p.L20 0.811 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF1 HGNC ENSG00000160182 9 12 57.14 21 0 0.00 TFF2 7032 genome.wustl.edu 37 21 43766557 43766557 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43766557 43766557 G C SNP TFF2 ENST00000463771 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors TFF2 HGNC ENSG00000160181 33 5 13.16 40 0 0.00 TFF3 7033 genome.wustl.edu 37 21 43735589 43735589 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 43735589 43735589 G A SNP TFF3 ENST00000291525 human ensembl 70_37 -1 known missense c.46 p.P16S 0.000 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF3 HGNC ENSG00000160180 172 48 21.82 250 0 0.00 TFG 10342 genome.wustl.edu 37 3 100451391 100451391 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 100451391 100451391 C T SNP TFG ENST00000240851 human ensembl 70_37 +1 known missense c.455 p.S152F 1.000 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 114 15 11.63 62 0 0.00 TFPI 7035 genome.wustl.edu 37 2 188331689 188331689 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 188331689 188331689 C T SNP TFPI ENST00000233156 human ensembl 70_37 -1 known missense c.889 p.E297K 0.628 pirsf_Prot_inhib_I2_TFPI pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 38 33 46.48 77 0 0.00 TFPI2 7980 genome.wustl.edu 37 7 93519487 93519487 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 93519487 93519487 G T SNP TFPI2 ENST00000222543 human ensembl 70_37 -1 known missense c.233 p.T78N 0.038 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 32 15 31.91 59 0 0.00 TFPI2 7980 genome.wustl.edu 37 7 93519512 93519512 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 93519512 93519512 C T SNP TFPI2 ENST00000222543 human ensembl 70_37 -1 known missense c.208 p.E70K 0.089 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 39 37 48.68 53 0 0.00 TFR2 7036 genome.wustl.edu 37 7 100218570 100218570 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 100218570 100218570 G T SNP TFR2 ENST00000223051 human ensembl 70_37 -1 known missense c.2316 p.F772L 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 46 6 11.54 43 0 0.00 TFR2 7036 genome.wustl.edu 37 7 100218699 100218699 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 100218699 100218699 G A SNP TFR2 ENST00000223051 human ensembl 70_37 -1 known silent c.2187 p.F729 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 6 4 40.00 12 0 0.00 TFRC 7037 genome.wustl.edu 37 3 195799011 195799011 + Silent SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 195799011 195799011 T C SNP TFRC ENST00000360110 human ensembl 70_37 -1 known silent c.447 p.E149 0.100 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 61 10 14.08 38 0 0.00 TG 7038 genome.wustl.edu 37 8 133885442 133885442 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 133885442 133885442 T C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.614 p.F205S 0.414 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 37 6 13.95 57 0 0.00 TG 7038 genome.wustl.edu 37 8 133898695 133898695 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 133898695 133898695 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.1078 p.E360K 0.929 superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 32 8 20.00 20 0 0.00 TG 7038 genome.wustl.edu 37 8 133899234 133899234 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 133899234 133899234 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.1617 p.K539N 0.001 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 17 12 41.38 31 0 0.00 TG 7038 genome.wustl.edu 37 8 133899343 133899343 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 133899343 133899343 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.1726 p.E576Q 0.997 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 42 11 20.75 28 0 0.00 TG 7038 genome.wustl.edu 37 8 133919127 133919127 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 133919127 133919127 C T SNP TG ENST00000220616 human ensembl 70_37 +1 known nonsense c.3829 p.Q1277* 0.799 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 40 11 21.57 37 0 0.00 TG 7038 genome.wustl.edu 37 8 133925344 133925344 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 133925344 133925344 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.4212 p.Q1404H 0.976 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 26 61 70.11 44 0 0.00 TG 7038 genome.wustl.edu 37 8 134030178 134030178 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 134030178 134030178 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.6718 p.E2240Q 0.214 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 44 9 16.98 29 0 0.00 TG 7038 genome.wustl.edu 37 8 134030178 134030178 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 134030178 134030178 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.6718 p.E2240Q 0.214 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 81 13 13.83 98 0 0.00 TG 7038 genome.wustl.edu 37 8 134108511 134108511 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 8 134108511 134108511 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.7466 p.R2489H 0.001 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 245 85 25.60 270 0 0.00 TG 7038 genome.wustl.edu 37 8 134146988 134146988 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 134146988 134146988 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.8257 p.E2753K 0.002 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 32 8 20.00 41 0 0.00 TGDS 23483 genome.wustl.edu 37 13 95248442 95248442 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 95248442 95248442 A G SNP TGDS ENST00000498294 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TGDS HGNC ENSG00000088451 43 6 12.24 39 0 0.00 TGFB1I1 7041 genome.wustl.edu 37 16 31486025 31486025 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 31486025 31486025 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known missense c.661 p.P221S 0.998 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 44 18 29.03 65 0 0.00 TGFB1I1 7041 genome.wustl.edu 37 16 31487834 31487834 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 31487834 31487834 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known silent c.921 p.H307 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 30 11 26.83 40 0 0.00 TGFB1I1 7041 genome.wustl.edu 37 16 31488298 31488298 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 31488298 31488298 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known silent c.1086 p.S362 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 7 8 53.33 24 0 0.00 TGFB1I1 7041 genome.wustl.edu 37 16 31488810 31488810 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 31488810 31488810 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known silent c.1299 p.F433 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 14 12 46.15 43 0 0.00 TGFB2 7042 genome.wustl.edu 37 1 218520199 218520200 + Frame_Shift_Ins INS - - C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 218520199 218520200 - C INS TGFB2 ENST00000366929 human ensembl 70_37 +1 known frame_shift_ins c.156_157 p.E54fs 1.000:1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb2 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 55 23 29.49 109 0 0.00 TGFB3 7043 genome.wustl.edu 37 14 76437563 76437563 + Silent SNP G G C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 76437563 76437563 G C SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known silent c.552 p.R184 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 20 4 16.67 31 0 0.00 TGFB3 7043 genome.wustl.edu 37 14 76438001 76438001 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 14 76438001 76438001 G A SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known missense c.413 p.S138L 0.999 pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 16 8 33.33 36 0 0.00 TGFB3 7043 genome.wustl.edu 37 14 76447123 76447123 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 76447123 76447123 C G SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known missense c.114 p.K38N 1.000 pfam_TGF-b_N,pirsf_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 159 20 10.99 221 0 0.00 TGFBI 7045 genome.wustl.edu 37 5 135382658 135382658 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 5 135382658 135382658 C G SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.578 p.S193C 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 32 4 11.11 40 0 0.00 TGFBI 7045 genome.wustl.edu 37 5 135382984 135382984 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 135382984 135382984 C T SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.646 p.R216W 0.934 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 19 19 50.00 71 0 0.00 TGFBI 7045 genome.wustl.edu 37 5 135390546 135390546 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 135390546 135390546 G A SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.1406 p.R469H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 34 4 10.53 39 0 0.00 TGFBR1 7046 genome.wustl.edu 37 9 101900342 101900342 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 101900342 101900342 T A SNP TGFBR1 ENST00000374994 human ensembl 70_37 +1 known missense c.776 p.I259N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC ENSG00000106799 96 24 20.00 90 0 0.00 TGFBR1 7046 genome.wustl.edu 37 9 101900343 101900343 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 101900343 101900343 C T SNP TGFBR1 ENST00000374994 human ensembl 70_37 +1 known silent c.777 p.I259 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC ENSG00000106799 97 24 19.83 90 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30691762 30691762 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 30691762 30691762 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known nonsense c.339 p.W113* 1.000 pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2 pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 10 27 72.97 41 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30691871 30691872 + Frame_Shift_Ins INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 30691871 30691872 - A INS TGFBR2 ENST00000359013 human ensembl 70_37 +1 known frame_shift_ins c.448_449 p.K154fs 1.000:1.000 pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 23 17 42.50 40 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30713254 30713254 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 30713254 30713254 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known silent c.654 p.R218 1.000 pirsf_Transform_growth_fac-b_typ-2 pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 10 3 23.08 26 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30715678 30715678 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 30715678 30715678 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known missense c.1411 p.D471N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 25 43 63.24 95 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30729968 30729968 + Nonsense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 3 30729968 30729968 C T SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known nonsense c.1564 p.R522* 0.992 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 11 8 42.11 21 0 0.00 TGFBR2 7048 genome.wustl.edu 37 3 30732976 30732976 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 3 30732976 30732976 C T SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known missense c.1664 p.T555I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 8 22 73.33 16 0 0.00 TGFBR3 7049 genome.wustl.edu 37 1 92184977 92184977 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 92184977 92184977 G A SNP TGFBR3 ENST00000212355 human ensembl 70_37 -1 known silent c.1458 p.T486 0.003 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 109 13 10.66 95 0 0.00 TGFBR3 7049 genome.wustl.edu 37 1 92195496 92195496 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 92195496 92195496 C T SNP TGFBR3 ENST00000212355 human ensembl 70_37 -1 known silent c.603 p.K201 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 43 13 23.21 66 0 0.00 TGFBR3L 100507588 genome.wustl.edu 37 19 7982967 7982967 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7982967 7982967 G A SNP TGFBR3L ENST00000565886 human ensembl 70_37 +1 putative silent c.909 p.A303 0.000 NULL pfam_ZP_dom - no_errors TGFBR3L HGNC ENSG00000260001 49 6 10.91 55 0 0.00 TGIF1 7050 genome.wustl.edu 37 18 3456358 3456358 + Missense_Mutation SNP T T G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 3456358 3456358 T G SNP TGIF1 ENST00000330513 human ensembl 70_37 +1 known missense c.410 p.V137G 0.492 NULL pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF1 HGNC ENSG00000177426 80 23 22.33 58 0 0.00 TGIF1 7050 genome.wustl.edu 37 18 3456381 3456381 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 3456381 3456381 G C SNP TGIF1 ENST00000330513 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 NULL pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF1 HGNC ENSG00000177426 659 115 14.86 850 0 0.00 TGIF2 60436 genome.wustl.edu 37 20 35207246 35207246 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 35207246 35207246 G A SNP TGIF2 ENST00000373872 human ensembl 70_37 +1 known silent c.69 p.G23 0.993 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 76 99 56.57 105 0 0.00 TGIF2 60436 genome.wustl.edu 37 20 35207298 35207298 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 35207298 35207298 C T SNP TGIF2 ENST00000373872 human ensembl 70_37 +1 known missense c.121 p.R41C 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 21 8 27.59 27 0 0.00 TGIF2 60436 genome.wustl.edu 37 20 35207325 35207325 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 35207325 35207325 G A SNP TGIF2 ENST00000373872 human ensembl 70_37 +1 known missense c.148 p.E50K 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 61 82 57.34 98 0 0.00 TGIF2 60436 genome.wustl.edu 37 20 35207333 35207333 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 20 35207333 35207333 G A SNP TGIF2 ENST00000373872 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 58 73 55.73 93 0 0.00 TGIF2 60436 genome.wustl.edu 37 20 35220571 35220572 + RNA INS - - A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 20 35220571 35220572 - A INS TGIF2 ENST00000558465 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors TGIF2 HGNC ENSG00000118707 14 4 22.22 11 0 0.00 TGIF2LX 90316 genome.wustl.edu 37 X 89177089 89177089 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 89177089 89177089 A G SNP TGIF2LX ENST00000283891 human ensembl 70_37 +1 known missense c.5 p.E2G 0.081 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2LX HGNC ENSG00000153779 31 12 27.27 78 0 0.00 TGIF2LX 90316 genome.wustl.edu 37 X 89177609 89177609 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 89177609 89177609 G A SNP TGIF2LX ENST00000283891 human ensembl 70_37 +1 known silent c.525 p.P175 0.002 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2LX HGNC ENSG00000153779 40 16 28.57 90 0 0.00 TGM2 7052 genome.wustl.edu 37 20 36766609 36766609 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 36766609 36766609 G C SNP TGM2 ENST00000361475 human ensembl 70_37 -1 known silent c.1521 p.L507 0.972 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 69 10 12.66 55 0 0.00 TGM2 7052 genome.wustl.edu 37 20 36789841 36789841 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 36789841 36789841 G T SNP TGM2 ENST00000361475 human ensembl 70_37 -1 known silent c.171 p.L57 0.906 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 35 4 10.26 35 0 0.00 TGM3 7053 genome.wustl.edu 37 20 2293594 2293594 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 2293594 2293594 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.591 p.L197 0.999 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 41 17 29.31 40 0 0.00 TGM3 7053 genome.wustl.edu 37 20 2297832 2297832 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2297832 2297832 C T SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known missense c.788 p.S263F 0.016 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 100 21 17.36 69 0 0.00 TGM3 7053 genome.wustl.edu 37 20 2315841 2315841 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 2315841 2315841 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.1722 p.A574 0.910 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 51 27 34.62 96 0 0.00 TGM3 7053 genome.wustl.edu 37 20 2315844 2315844 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 2315844 2315844 G C SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.1725 p.V575 0.965 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 104 25 19.23 98 0 0.00 TGM3 7053 genome.wustl.edu 37 20 2315878 2315878 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 2315878 2315878 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known missense c.1759 p.E587K 0.976 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 65 25 27.78 104 0 0.00 TGM4 7047 genome.wustl.edu 37 3 44935068 44935068 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44935068 44935068 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known splice_site c.431-1 e5-1 0.999 - - - no_errors TGM4 HGNC ENSG00000163810 43 17 28.33 65 0 0.00 TGM4 7047 genome.wustl.edu 37 3 44951664 44951664 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 44951664 44951664 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1410 p.E470D 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 16 27 62.79 22 0 0.00 TGM4 7047 genome.wustl.edu 37 3 44951664 44951664 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 44951664 44951664 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1410 p.E470D 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 39 57 59.38 141 0 0.00 TGM4 7047 genome.wustl.edu 37 3 44952543 44952543 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44952543 44952543 C T SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1700 p.A567V 0.023 superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 25 12 32.43 59 0 0.00 TGM5 9333 genome.wustl.edu 37 15 43527686 43527686 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 43527686 43527686 G C SNP TGM5 ENST00000220420 human ensembl 70_37 -1 known missense c.1695 p.I565M 0.996 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 61 27 30.34 83 0 0.00 TGM5 9333 genome.wustl.edu 37 15 43533169 43533169 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43533169 43533169 G C SNP TGM5 ENST00000220420 human ensembl 70_37 -1 known missense c.882 p.I294M 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 64 38 37.25 85 0 0.00 TGM6 343641 genome.wustl.edu 37 20 2411091 2411091 + Splice_Site SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 2411091 2411091 G A SNP TGM6 ENST00000202625 human ensembl 70_37 +1 known splice_site c.1679-1 e11-1 1.000 - - - no_errors TGM6 HGNC ENSG00000166948 52 13 20.00 25 0 0.00 TGM6 343641 genome.wustl.edu 37 20 2411091 2411091 + Splice_Site SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 20 2411091 2411091 G A SNP TGM6 ENST00000202625 human ensembl 70_37 +1 known splice_site c.1679-1 e11-1 1.000 - - - no_errors TGM6 HGNC ENSG00000166948 91 25 21.55 173 0 0.00 TGM7 116179 genome.wustl.edu 37 15 43584214 43584214 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43584214 43584214 T C SNP TGM7 ENST00000452443 human ensembl 70_37 -1 known missense c.521 p.E174G 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 15 6 28.57 40 0 0.00 TGOLN2 10618 genome.wustl.edu 37 2 85553825 85553825 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 85553825 85553825 C G SNP TGOLN2 ENST00000377386 human ensembl 70_37 -1 known missense c.1030 p.E344Q 0.114 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 40 12 22.64 31 0 0.00 TGOLN2 10618 genome.wustl.edu 37 2 85554084 85554084 + Silent SNP A A C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 85554084 85554084 A C SNP TGOLN2 ENST00000377386 human ensembl 70_37 -1 known silent c.771 p.P257 0.001 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 77 41 34.75 123 0 0.00 TGOLN2 10618 genome.wustl.edu 37 2 85555056 85555056 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 85555056 85555056 C T SNP TGOLN2 ENST00000377386 human ensembl 70_37 -1 known silent c.30 p.L10 0.151 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 58 54 48.21 86 0 0.00 TGS1 96764 genome.wustl.edu 37 8 56698850 56698850 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 8 56698850 56698850 G T SNP TGS1 ENST00000260129 human ensembl 70_37 +1 known missense c.393 p.K131N 0.998 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 10 4 28.57 16 0 0.00 TH 7054 genome.wustl.edu 37 11 2185559 2185559 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 2185559 2185559 G C SNP TH ENST00000381178 human ensembl 70_37 -1 known missense c.1491 p.I497M 0.819 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 58 27 31.76 97 0 0.00 TH 7054 genome.wustl.edu 37 11 2191050 2191050 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 2191050 2191050 C T SNP TH ENST00000381178 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 10 13 56.52 22 0 0.00 NELFCD 51497 genome.wustl.edu 37 20 57564055 57564055 + Missense_Mutation SNP G G C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 20 57564055 57564055 G C SNP TH1L ENST00000344018 human ensembl 70_37 +1 known missense c.510 p.L170F 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC ENSG00000101158 39 7 14.89 64 0 0.00 NELFCD 51497 genome.wustl.edu 37 20 57564672 57564672 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 57564672 57564672 G C SNP TH1L ENST00000344018 human ensembl 70_37 +1 known missense c.661 p.E221Q 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC ENSG00000101158 55 22 28.57 38 0 0.00 THADA 63892 genome.wustl.edu 37 2 43458382 43458382 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 43458382 43458382 G C SNP THADA ENST00000405006 human ensembl 70_37 -1 known nonsense c.5567 p.S1856* 0.002 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 24 13 35.14 38 0 0.00 THADA 63892 genome.wustl.edu 37 2 43571336 43571336 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 43571336 43571336 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.4268 p.G1423E 0.932 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 94 12 11.32 73 0 0.00 THADA 63892 genome.wustl.edu 37 2 43655350 43655350 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 43655350 43655350 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.3947 p.R1316H 0.257 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 30 11 26.83 36 0 0.00 THADA 63892 genome.wustl.edu 37 2 43711417 43711417 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 43711417 43711417 G A SNP THADA ENST00000436947 human ensembl 70_37 -1 known rna NULL NULL 0.088 - - - no_errors THADA HGNC ENSG00000115970 11 7 38.89 16 0 0.00 THADA 63892 genome.wustl.edu 37 2 43768398 43768398 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 43768398 43768398 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.3164 p.R1055K 1.000 pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 15 19 55.88 36 0 0.00 THADA 63892 genome.wustl.edu 37 2 43800129 43800129 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 43800129 43800129 G C SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.1732 p.Q578E 0.001 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 12 6 33.33 21 0 0.00 THADA 63892 genome.wustl.edu 37 2 43801659 43801659 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 43801659 43801659 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known silent c.1545 p.E515 0.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 52 26 33.33 50 0 0.00 THAP1 55145 genome.wustl.edu 37 8 42693360 42693360 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 42693360 42693360 G C SNP THAP1 ENST00000254250 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC ENSG00000131931 55 37 40.22 71 0 0.00 THAP11 57215 genome.wustl.edu 37 16 67876870 67876870 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67876870 67876870 C A SNP THAP11 ENST00000303596 human ensembl 70_37 +1 known missense c.413 p.S138Y 0.989 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 143 26 15.38 194 0 0.00 THAP3 90326 genome.wustl.edu 37 1 6688663 6688663 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6688663 6688663 G A SNP THAP3 ENST00000054650 human ensembl 70_37 +1 known missense c.179 p.R60Q 0.018 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 47 17 26.56 75 0 0.00 THAP3 90326 genome.wustl.edu 37 1 6693112 6693112 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 6693112 6693112 G A SNP THAP3 ENST00000054650 human ensembl 70_37 +1 known missense c.695 p.R232K 0.004 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 29 6 17.14 29 0 0.00 THAP4 51078 genome.wustl.edu 37 2 242572605 242572605 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 242572605 242572605 C T SNP THAP4 ENST00000407315 human ensembl 70_37 -1 known missense c.967 p.A323T 0.996 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 18 8 30.77 45 0 0.00 THAP5 168451 genome.wustl.edu 37 7 108205264 108205264 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 108205264 108205264 C T SNP THAP5 ENST00000415914 human ensembl 70_37 -1 known missense c.559 p.D187N 0.986 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 56 15 21.13 34 0 0.00 THAP5 168451 genome.wustl.edu 37 7 108205264 108205264 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 108205264 108205264 C T SNP THAP5 ENST00000415914 human ensembl 70_37 -1 known missense c.559 p.D187N 0.986 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 65 11 14.29 54 0 0.00 THAP7 80764 genome.wustl.edu 37 22 21354220 21354220 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 21354220 21354220 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.879 p.L293 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 40 9 18.37 29 0 0.00 THAP7 80764 genome.wustl.edu 37 22 21354220 21354220 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 21354220 21354220 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.879 p.L293 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 71 10 12.35 98 0 0.00 THAP7 80764 genome.wustl.edu 37 22 21354527 21354527 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 22 21354527 21354527 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known missense c.572 p.C191Y 0.991 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 21 10 31.25 24 0 0.00 THAP7 80764 genome.wustl.edu 37 22 21354544 21354544 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 21354544 21354544 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.555 p.Q185 0.994 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 16 14 46.67 26 0 0.00 THAP7 80764 genome.wustl.edu 37 22 21354707 21354707 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 21354707 21354707 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known missense c.392 p.R131Q 0.827 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 16 22 56.41 53 0 0.00 THAP7-AS1 439931 genome.wustl.edu 37 22 21356609 21356609 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21356609 21356609 C G SNP THAP7-AS1 ENST00000429962 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors THAP7-AS1 HGNC ENSG00000230513 20 6 23.08 26 0 0.00 THAP7-AS1 439931 genome.wustl.edu 37 22 21357492 21357492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21357492 21357492 G T SNP THAP7-AS1 ENST00000429962 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors THAP7-AS1 HGNC ENSG00000230513 12 8 40.00 21 0 0.00 THAP8 199745 genome.wustl.edu 37 19 36530340 36530340 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 36530340 36530340 C G SNP THAP8 ENST00000292894 human ensembl 70_37 -1 known missense c.557 p.R186T 0.907 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP8 HGNC ENSG00000161277 22 4 15.38 20 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83827476 83827476 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827476 83827476 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known splice_site c.277-1 e3-1 0.748 - - - no_errors THAP9 HGNC ENSG00000168152 41 11 21.15 61 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83827621 83827621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827621 83827621 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.421 p.E141Q 0.998 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 60 11 15.49 43 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83827655 83827655 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 83827655 83827655 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.455 p.R152T 0.028 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 59 20 25.32 75 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83827726 83827726 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 83827726 83827726 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.526 p.E176K 0.972 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 52 11 17.46 46 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83827747 83827747 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827747 83827747 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.547 p.E183K 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 47 6 11.32 26 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83838284 83838284 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 83838284 83838284 C T SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.919 p.L307F 0.866 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 24 14 36.84 73 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83839270 83839270 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 83839270 83839270 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.1905 p.Q635H 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 28 11 28.21 15 0 0.00 THAP9 79725 genome.wustl.edu 37 4 83839307 83839307 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 83839307 83839307 C G SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.1942 p.Q648E 0.017 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 29 11 27.50 41 0 0.00 THBD 7056 genome.wustl.edu 37 20 23028472 23028472 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 23028472 23028472 G T SNP THBD ENST00000377103 human ensembl 70_37 -1 known missense c.1670 p.P557H 0.058 pirsf_CD93/CD141,prints_Thrombomodulin pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin - no_errors THBD HGNC ENSG00000178726 33 4 10.81 32 0 0.00 THBD 7056 genome.wustl.edu 37 20 23029751 23029751 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 23029751 23029751 G A SNP THBD ENST00000377103 human ensembl 70_37 -1 known missense c.391 p.P131S 0.045 superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin - no_errors THBD HGNC ENSG00000178726 32 11 25.58 33 0 0.00 THBS1 7057 genome.wustl.edu 37 15 39874405 39874405 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 39874405 39874405 G C SNP THBS1 ENST00000260356 human ensembl 70_37 +1 known missense c.79 p.D27H 1.000 smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 25 10 28.57 43 0 0.00 THBS1 7057 genome.wustl.edu 37 15 39879667 39879667 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 39879667 39879667 G C SNP THBS1 ENST00000260356 human ensembl 70_37 +1 known missense c.1240 p.E414Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 18 10 35.71 14 0 0.00 THBS2 7058 genome.wustl.edu 37 6 169640669 169640669 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 169640669 169640669 G A SNP THBS2 ENST00000366787 human ensembl 70_37 -1 known missense c.910 p.L304F 0.955 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 49 6 10.91 51 0 0.00 THBS2 7058 genome.wustl.edu 37 6 169648967 169648967 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 169648967 169648967 C G SNP THBS2 ENST00000366787 human ensembl 70_37 -1 known missense c.154 p.V52L 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 30 12 28.57 44 0 0.00 THBS3 7059 genome.wustl.edu 37 1 155166959 155166959 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 155166959 155166959 G A SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known silent c.2545 p.L849 0.999 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 85 29 25.44 49 0 0.00 THBS3 7059 genome.wustl.edu 37 1 155167871 155167871 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155167871 155167871 C T SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known missense c.2215 p.D739N 1.000 superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 13 29 69.05 20 0 0.00 THBS3 7059 genome.wustl.edu 37 1 155167918 155167918 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 155167918 155167918 A G SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known missense c.2168 p.L723P 1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 29 11 27.50 24 0 0.00 THBS4 7060 genome.wustl.edu 37 5 79335943 79335943 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 79335943 79335943 C T SNP THBS4 ENST00000350881 human ensembl 70_37 +1 known silent c.132 p.G44 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 43 9 17.31 50 0 0.00 THBS4 7060 genome.wustl.edu 37 5 79372793 79372793 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 79372793 79372793 G T SNP THBS4 ENST00000350881 human ensembl 70_37 +1 known missense c.2008 p.D670Y 1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 22 4 15.38 28 0 0.00 THEG 51298 genome.wustl.edu 37 19 362260 362260 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 362260 362260 C G SNP THEG ENST00000342640 human ensembl 70_37 -1 known missense c.1080 p.M360I 0.892 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 61 17 21.79 49 0 0.00 THEG 51298 genome.wustl.edu 37 19 375903 375903 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 375903 375903 C A SNP THEG ENST00000342640 human ensembl 70_37 -1 known missense c.68 p.R23M 0.000 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 9 4 30.77 20 0 0.00 THEM4 117145 genome.wustl.edu 37 1 151861894 151861894 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 151861894 151861894 G A SNP THEM4 ENST00000477437 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors THEM4 HGNC ENSG00000159445 28 9 24.32 21 0 0.00 THEM6 51337 genome.wustl.edu 37 8 143816856 143816856 + Silent SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 8 143816856 143816856 G A SNP THEM6 ENST00000336138 human ensembl 70_37 +1 known silent c.626 p.*209 0.992 NULL NULL - no_errors THEM6 HGNC ENSG00000130193 56 33 37.08 32 0 0.00 THEMIS 387357 genome.wustl.edu 37 6 128150975 128150975 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 128150975 128150975 G A SNP THEMIS ENST00000543064 human ensembl 70_37 -1 known missense c.355 p.H119Y 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 118 35 22.73 169 0 0.00 THEMIS2 9473 genome.wustl.edu 37 1 28203154 28203154 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 28203154 28203154 C T SNP THEMIS2 ENST00000373921 human ensembl 70_37 +1 known silent c.150 p.I50 0.989 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 36 5 12.20 30 0 0.00 THG1L 54974 genome.wustl.edu 37 5 157162884 157162884 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 157162884 157162884 T C SNP THG1L ENST00000231198 human ensembl 70_37 +1 known missense c.569 p.F190S 1.000 pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 12 5 29.41 54 0 0.00 THNSL1 79896 genome.wustl.edu 37 10 25313422 25313422 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 25313422 25313422 C G SNP THNSL1 ENST00000376356 human ensembl 70_37 +1 known missense c.1270 p.Q424E 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,prints_Shikimate_kinase,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 98 37 27.41 139 0 0.00 THNSL2 55258 genome.wustl.edu 37 2 88484895 88484895 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 88484895 88484895 C G SNP THNSL2 ENST00000324166 human ensembl 70_37 +1 known missense c.1126 p.Q376E 0.025 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 33 18 35.29 54 0 0.00 THOC1 9984 genome.wustl.edu 37 18 246446 246446 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 246446 246446 C G SNP THOC1 ENST00000261600 human ensembl 70_37 -1 known missense c.796 p.E266Q 1.000 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death - no_errors THOC1 HGNC ENSG00000079134 39 10 20.41 56 0 0.00 THOC2 57187 genome.wustl.edu 37 X 122745309 122745309 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 122745309 122745309 C T SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known missense c.4736 p.G1579E 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 188 39 17.18 98 0 0.00 THOC2 57187 genome.wustl.edu 37 X 122754210 122754210 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 122754210 122754210 G T SNP THOC2 ENST00000464992 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors THOC2 HGNC ENSG00000125676 11 7 38.89 34 0 0.00 THOC2 57187 genome.wustl.edu 37 X 122761592 122761592 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 122761592 122761592 G A SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known silent c.2709 p.V903 1.000 pfam_THO_THOC2_C pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 22 12 35.29 67 0 0.00 THOC2 57187 genome.wustl.edu 37 X 122765673 122765673 + Missense_Mutation SNP A A C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 X 122765673 122765673 A C SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known missense c.2347 p.F783V 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 56 9 13.85 54 0 0.00 THOC2 57187 genome.wustl.edu 37 X 122778431 122778431 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 122778431 122778431 G C SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known missense c.1656 p.I552M 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 39 26 40.00 63 0 0.00 THOC3 84321 genome.wustl.edu 37 5 175392151 175392151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 175392151 175392151 G A SNP THOC3 ENST00000513006 human ensembl 70_37 -1 known missense c.275 p.T92I 1.000 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC3 HGNC ENSG00000051596 29 18 38.30 67 0 0.00 THOC3 84321 genome.wustl.edu 37 5 175394547 175394548 + RNA INS - - ACC TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 175394547 175394548 - ACC INS THOC3 ENST00000510300 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors THOC3 HGNC ENSG00000051596 4 2 33.33 8 0 0.00 THOC3 84321 genome.wustl.edu 37 5 175395007 175395007 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 175395007 175395007 G A SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.205 p.R69C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 41 22 34.92 120 0 0.00 THOC3 84321 genome.wustl.edu 37 5 175395007 175395007 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 175395007 175395007 G T SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.205 p.R69S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 82 47 36.43 67 0 0.00 THOC3 84321 genome.wustl.edu 37 5 175395167 175395167 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 175395167 175395167 C G SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.45 p.Q15H 0.941 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 70 10 12.50 62 0 0.00 THOC5 8563 genome.wustl.edu 37 22 29908040 29908040 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 29908040 29908040 C T SNP THOC5 ENST00000397871 human ensembl 70_37 -1 known silent c.1767 p.E589 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 17 5 22.73 39 0 0.00 THOC5 8563 genome.wustl.edu 37 22 29939420 29939420 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 29939420 29939420 C T SNP THOC5 ENST00000397871 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 pfam_THO_Thoc5 pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 49 26 34.67 53 0 0.00 THOC7 80145 genome.wustl.edu 37 3 63819876 63819876 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 63819876 63819876 C G SNP THOC7 ENST00000295899 human ensembl 70_37 -1 known splice_site c.548-1 e8-1 1.000 - - - no_errors THOC7 HGNC ENSG00000163634 40 10 20.00 36 0 0.00 THOP1 7064 genome.wustl.edu 37 19 2794766 2794766 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 2794766 2794766 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.234 p.Q78H 1.000 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 64 34 34.69 93 0 0.00 THOP1 7064 genome.wustl.edu 37 19 2796129 2796129 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 2796129 2796129 G T SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.429 p.E143D 1.000 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 29 4 12.12 37 0 0.00 THOP1 7064 genome.wustl.edu 37 19 2805036 2805036 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 2805036 2805036 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known silent c.612 p.L204 0.998 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 94 25 21.01 153 0 0.00 THOP1 7064 genome.wustl.edu 37 19 2810715 2810715 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 2810715 2810715 G A SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.1720 p.E574K 0.318 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 9 3 25.00 20 0 0.00 THOP1 7064 genome.wustl.edu 37 19 2813158 2813158 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 2813158 2813158 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.1954 p.E652Q 0.001 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 16 2 11.11 20 0 0.00 THPO 7066 genome.wustl.edu 37 3 184090438 184090438 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 184090438 184090438 G A SNP THPO ENST00000204615 human ensembl 70_37 -1 known missense c.925 p.L309F 0.714 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 47 22 31.88 38 0 0.00 THPO 7066 genome.wustl.edu 37 3 184090787 184090787 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 3 184090787 184090787 C G SNP THPO ENST00000204615 human ensembl 70_37 -1 known silent c.576 p.L192 0.452 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 10 10 50.00 16 0 0.00 THPO 7066 genome.wustl.edu 37 3 184090793 184090793 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 184090793 184090793 G A SNP THPO ENST00000204615 human ensembl 70_37 -1 known silent c.570 p.L190 0.403 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 74 10 11.90 102 0 0.00 THRA 7067 genome.wustl.edu 37 17 38249337 38249337 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 38249337 38249337 C T SNP THRA ENST00000264637 human ensembl 70_37 +1 known missense c.1175 p.S392L 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 63 18 22.22 115 0 0.00 THRAP3 9967 genome.wustl.edu 37 1 36752157 36752157 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 36752157 36752157 C G SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known nonsense c.326 p.S109* 0.996 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 27 23 46.00 47 0 0.00 THRAP3 9967 genome.wustl.edu 37 1 36754830 36754830 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 36754830 36754830 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known missense c.1210 p.R404W 0.997 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 76 18 18.95 94 0 0.00 THRAP3 9967 genome.wustl.edu 37 1 36754981 36754981 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 36754981 36754981 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known missense c.1361 p.S454F 0.999 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 67 20 22.73 69 0 0.00 THRAP3 9967 genome.wustl.edu 37 1 36757080 36757080 + Silent SNP T T G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 36757080 36757080 T G SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known silent c.1851 p.A617 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 46 29 38.67 82 0 0.00 THRAP3 9967 genome.wustl.edu 37 1 36762219 36762219 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 36762219 36762219 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known silent c.2151 p.L717 0.739 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 17 9 34.62 43 0 0.00 THSD1 55901 genome.wustl.edu 37 13 52952233 52952233 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 52952233 52952233 C T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known silent c.1872 p.L624 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 59 11 15.71 78 0 0.00 THSD1 55901 genome.wustl.edu 37 13 52971859 52971859 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 13 52971859 52971859 C T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.529 p.E177K 0.134 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 35 13 27.08 65 0 0.00 THSD1 55901 genome.wustl.edu 37 13 52971931 52971931 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 52971931 52971931 G T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.457 p.Q153K 0.956 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 48 34 41.46 74 0 0.00 THSD1 55901 genome.wustl.edu 37 13 52972113 52972113 + Missense_Mutation SNP T T C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 52972113 52972113 T C SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.275 p.Y92C 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 102 14 12.07 175 0 0.00 THSD4 79875 genome.wustl.edu 37 15 71507659 71507659 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 71507659 71507659 G A SNP THSD4 ENST00000261862 human ensembl 70_37 +1 known missense c.385 p.A129T 0.000 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 22 7 24.14 23 0 0.00 THSD4 79875 genome.wustl.edu 37 15 72020903 72020903 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 72020903 72020903 C T SNP THSD4 ENST00000261862 human ensembl 70_37 +1 known missense c.1373 p.S458F 0.999 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 32 11 25.00 67 0 0.00 THSD4 79875 genome.wustl.edu 37 15 72040915 72040915 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 15 72040915 72040915 C T SNP THSD4 ENST00000261862 human ensembl 70_37 +1 known silent c.2397 p.L799 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 60 13 17.81 29 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11419307 11419307 + Missense_Mutation SNP C C T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 11419307 11419307 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.4540 p.D1514N 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 11 4 26.67 29 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11446027 11446027 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 11446027 11446027 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known silent c.4137 p.F1379 0.929 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 15 14 48.28 52 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11446088 11446088 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 11446088 11446088 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.4076 p.G1359E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 52 21 28.38 71 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11446665 11446665 + Nonsense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 11446665 11446665 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known nonsense c.3934 p.R1312* 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 35 17 32.69 16 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11450835 11450835 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 11450835 11450835 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.3797 p.A1266V 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 31 16 34.04 91 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11486868 11486868 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 11486868 11486868 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.2789 p.R930H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 43 25 36.76 55 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11521436 11521436 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 11521436 11521436 G C SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.1996 p.L666V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 32 21 39.62 109 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11582675 11582675 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 11582675 11582675 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.1523 p.P508L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 47 7 12.96 63 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11630259 11630259 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 11630259 11630259 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known nonsense c.1281 p.W427* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 83 18 17.82 70 0 0.00 THSD7A 221981 genome.wustl.edu 37 7 11676040 11676040 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 11676040 11676040 C G SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.739 p.E247Q 0.606 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 26 17 39.53 37 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137748495 137748495 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 137748495 137748495 C G SNP THSD7B ENST00000413152 human ensembl 70_37 +1 known missense c.34 p.H12D 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 22 18 45.00 23 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137814044 137814044 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 137814044 137814044 C A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.194 p.A65E 0.046 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 49 33 40.24 57 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137814668 137814668 + Nonsense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 137814668 137814668 C G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known nonsense c.818 p.S273* 0.995 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 28 18 39.13 52 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137852605 137852605 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 137852605 137852605 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1113 p.M371I 0.427 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 76 14 15.56 107 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137852675 137852675 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 137852675 137852675 C G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1183 p.L395V 0.926 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 41 31 43.06 76 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 137988727 137988727 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 137988727 137988727 T C SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1837 p.C613R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 54 36 40.00 81 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 138163340 138163340 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 138163340 138163340 C A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.2658 p.N886K 0.012 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 16 6 27.27 26 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 138375966 138375966 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 138375966 138375966 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known nonsense c.3579 p.W1193* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 43 31 41.89 96 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 138413202 138413202 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 138413202 138413202 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known silent c.4086 p.L1362 1.000 smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 43 26 37.68 67 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 138414429 138414429 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 138414429 138414429 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.4178 p.R1393K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 23 6 20.69 47 0 0.00 THSD7B 80731 genome.wustl.edu 37 2 138414450 138414450 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 138414450 138414450 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.4199 p.R1400H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 34 15 30.61 56 0 0.00 THUMPD1 55623 genome.wustl.edu 37 16 20752961 20752961 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 20752961 20752961 C A SNP THUMPD1 ENST00000431224 human ensembl 70_37 -1 known missense c.359 p.G120V 1.000 NULL pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD1 HGNC ENSG00000066654 28 4 12.50 27 0 0.00 THUMPD3 25917 genome.wustl.edu 37 3 9412758 9412758 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 9412758 9412758 G C SNP THUMPD3 ENST00000345094 human ensembl 70_37 +1 known missense c.345 p.K115N 1.000 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 28 15 34.88 27 0 0.00 THUMPD3 25917 genome.wustl.edu 37 3 9412866 9412866 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 9412866 9412866 G C SNP THUMPD3 ENST00000345094 human ensembl 70_37 +1 known missense c.453 p.Q151H 0.000 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 23 4 14.81 18 0 0.00 THY1 7070 genome.wustl.edu 37 11 119290224 119290224 + Missense_Mutation SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 119290224 119290224 A C SNP THY1 ENST00000284240 human ensembl 70_37 -1 known missense c.380 p.L127R 1.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors THY1 HGNC ENSG00000154096 31 24 43.64 21 0 0.00 THY1 7070 genome.wustl.edu 37 11 119290224 119290224 + Missense_Mutation SNP A A C TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 11 119290224 119290224 A C SNP THY1 ENST00000284240 human ensembl 70_37 -1 known missense c.380 p.L127R 1.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors THY1 HGNC ENSG00000154096 32 37 53.62 68 0 0.00 THYN1 29087 genome.wustl.edu 37 11 134118790 134118790 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 11 134118790 134118790 G A SNP THYN1 ENST00000341541 human ensembl 70_37 -1 known missense c.544 p.H182Y 0.978 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 50 12 19.35 77 0 0.00 THYN1 29087 genome.wustl.edu 37 11 134118818 134118818 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 134118818 134118818 G A SNP THYN1 ENST00000341541 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 24 13 35.14 57 0 0.00 TIA1 7072 genome.wustl.edu 37 2 70454926 70454926 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 70454926 70454926 G T SNP TIA1 ENST00000477044 human ensembl 70_37 -1 known nonsense c.458 p.S153* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 17 8 32.00 26 0 0.00 TIA1 7072 genome.wustl.edu 37 2 70456452 70456453 + Splice_Site INS - - A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 70456452 70456453 - A INS TIA1 ENST00000433529 human ensembl 70_37 -1 known splice_site_ins c.223-3_223-2 e4-2 1.000:0.990 - - - no_errors TIA1 HGNC ENSG00000116001 15 4 21.05 17 0 0.00 TIAF1 9220 genome.wustl.edu 37 17 27400946 27400946 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 27400946 27400946 G T SNP TIAF1 ENST00000359450 human ensembl 70_37 -1 known missense c.272 p.P91Q 0.876 NULL NULL - no_errors TIAF1 HGNC ENSG00000221995 32 4 11.11 29 0 0.00 TIAL1 7073 genome.wustl.edu 37 10 121342023 121342023 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 121342023 121342023 C G SNP TIAL1 ENST00000369093 human ensembl 70_37 -1 known missense c.227 p.R76T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 16 13 44.83 29 0 0.00 TIAL1 7073 genome.wustl.edu 37 10 121356085 121356085 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 121356085 121356085 G A SNP TIAL1 ENST00000479729 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors TIAL1 HGNC ENSG00000151923 37 5 11.90 34 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32537277 32537277 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 32537277 32537277 A C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known splice_site c.2991+2 e13+2 1.000 - - - no_errors TIAM1 HGNC ENSG00000156299 13 7 35.00 42 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32537340 32537340 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 21 32537340 32537340 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.2930 p.A977V 0.064 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 9 13 59.09 49 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32554751 32554751 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 21 32554751 32554751 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.2874 p.L958 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 30 12 28.57 41 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32598150 32598150 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 32598150 32598150 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.1701 p.I567M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 26 16 38.10 59 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32598165 32598165 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 21 32598165 32598165 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.1686 p.L562 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 143 63 30.43 202 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32598201 32598201 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 32598201 32598201 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.1650 p.V550 0.698 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 21 23 52.27 53 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32638880 32638880 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 32638880 32638880 C A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.409 p.D137Y 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 88 16 15.38 123 0 0.00 TIAM1 7074 genome.wustl.edu 37 21 32638893 32638893 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 32638893 32638893 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.396 p.S132 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 47 11 18.97 46 0 0.00 TIAM2 26230 genome.wustl.edu 37 6 155458520 155458520 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155458520 155458520 G C SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.1404 p.M468I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 22 17 43.59 36 0 0.00 TIAM2 26230 genome.wustl.edu 37 6 155561820 155561820 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155561820 155561820 G C SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.3325 p.D1109H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 30 7 18.92 31 0 0.00 TIAM2 26230 genome.wustl.edu 37 6 155565812 155565812 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 155565812 155565812 T G SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.3438 p.S1146R 0.968 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 27 3 10.00 53 0 0.00 TIAM2 26230 genome.wustl.edu 37 6 155575620 155575620 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 155575620 155575620 C T SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.4468 p.H1490Y 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 36 11 23.40 46 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4816382 4816382 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 4816382 4816382 G T SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.2008 p.P670T 0.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 44 17 27.87 121 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4816833 4816833 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4816833 4816833 G A SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known silent c.1557 p.I519 0.960 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 19 11 36.67 36 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4816923 4816923 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 4816923 4816923 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.1467 p.F489L 1.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 10 5 33.33 11 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4817190 4817190 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4817190 4817190 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known silent c.1200 p.L400 0.969 superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 56 40 41.24 89 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4817906 4817906 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4817906 4817906 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.484 p.L162V 0.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 30 32 51.61 43 0 0.00 TICAM1 148022 genome.wustl.edu 37 19 4818198 4818198 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 4818198 4818198 C G SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.192 p.L64F 0.074 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 44 28 38.89 64 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90119090 90119090 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 15 90119090 90119090 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.273 p.P91 0.014 NULL NULL - no_errors TICRR HGNC ENSG00000140534 25 13 34.21 12 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90127592 90127592 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 90127592 90127592 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1010 p.P337L 0.994 NULL NULL - no_errors TICRR HGNC ENSG00000140534 48 14 22.22 27 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90129000 90129000 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 90129000 90129000 C G SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1238 p.S413C 0.506 NULL NULL - no_errors TICRR HGNC ENSG00000140534 40 16 28.57 55 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90129033 90129033 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 90129033 90129033 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1271 p.T424I 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 46 6 11.54 68 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90150020 90150020 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 90150020 90150020 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known nonsense c.2686 p.Q896* 0.985 NULL NULL - no_errors TICRR HGNC ENSG00000140534 24 19 44.19 50 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90162963 90162963 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 15 90162963 90162963 G A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.3044 p.R1015Q 1.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 163 20 10.87 156 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90164700 90164700 + Silent SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 90164700 90164700 C A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.3231 p.I1077 0.118 NULL NULL - no_errors TICRR HGNC ENSG00000140534 66 45 40.54 147 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90167236 90167236 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90167236 90167236 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.3695 p.S1232L 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 17 4 19.05 17 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90167264 90167264 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90167264 90167264 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.3723 p.L1241 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 18 6 25.00 20 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90167357 90167357 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90167357 90167357 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.3816 p.L1272 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 11 3 21.43 24 0 0.00 TICRR 90381 genome.wustl.edu 37 15 90167565 90167565 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90167565 90167565 G A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.4024 p.E1342K 0.004 NULL NULL - no_errors TICRR HGNC ENSG00000140534 30 20 40.00 53 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43779034 43779034 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 1 43779034 43779034 G A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.2156 p.R719Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 191 57 22.98 202 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43779725 43779726 + RNA DEL TG TG - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 43779725 43779726 TG - DEL TIE1 ENST00000471187 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 11 4 26.67 12 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43779725 43779726 + RNA DEL TG TG - TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 43779725 43779726 TG - DEL TIE1 ENST00000471187 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 22 3 12.00 16 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43780910 43780910 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 43780910 43780910 C T SNP TIE1 ENST00000461061 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TIE1 HGNC ENSG00000066056 32 27 45.76 32 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43782884 43782884 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43782884 43782884 C A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known silent c.2424 p.I808 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 19 13 40.62 18 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43783067 43783067 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783067 43783067 C T SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known silent c.2607 p.I869 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 28 16 36.36 32 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43783117 43783117 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783117 43783117 C G SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.070 - - - no_errors TIE1 HGNC ENSG00000066056 69 17 19.77 81 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43783157 43783157 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783157 43783157 C G SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TIE1 HGNC ENSG00000066056 22 9 29.03 19 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43783244 43783244 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783244 43783244 C G SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.2630 p.S877C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 17 5 22.73 18 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43783303 43783303 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783303 43783303 C A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.2689 p.H897N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 206 55 20.99 244 1 0.41 TIE1 7075 genome.wustl.edu 37 1 43783486 43783486 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783486 43783486 C T SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC ENSG00000066056 280 98 25.65 386 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43784988 43784988 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 1 43784988 43784988 G A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.3005 p.R1002Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 115 43 27.04 155 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43785150 43785150 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 43785150 43785150 G C SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.3057 p.W1019C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 42 14 25.00 34 0 0.00 TIE1 7075 genome.wustl.edu 37 1 43785209 43785209 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43785209 43785209 G C SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC ENSG00000066056 26 18 40.91 55 0 0.00 TIGD2 166815 genome.wustl.edu 37 4 90035089 90035089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 90035089 90035089 C G SNP TIGD2 ENST00000317005 human ensembl 70_37 +1 known missense c.964 p.L322V 0.986 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 28 6 17.65 29 0 0.00 TIGD3 220359 genome.wustl.edu 37 11 65124381 65124381 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 65124381 65124381 G A SNP TIGD3 ENST00000309880 human ensembl 70_37 +1 known missense c.1102 p.G368S 0.058 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 16 8 33.33 17 0 0.00 TIGD3 220359 genome.wustl.edu 37 11 65124400 65124400 + Nonsense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 65124400 65124400 C A SNP TIGD3 ENST00000309880 human ensembl 70_37 +1 known nonsense c.1121 p.S374* 0.000 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 30 4 11.76 52 0 0.00 TIGD4 201798 genome.wustl.edu 37 4 153690664 153690664 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 153690664 153690664 G A SNP TIGD4 ENST00000304337 human ensembl 70_37 -1 known missense c.1493 p.S498F 1.000 pfam_Centromere_CenpB_dimerisation pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 83 17 16.83 130 0 0.00 TIGD4 201798 genome.wustl.edu 37 4 153691340 153691340 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 153691340 153691340 C G SNP TIGD4 ENST00000304337 human ensembl 70_37 -1 known missense c.817 p.D273H 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 29 24 45.28 30 0 0.00 TIGD4 201798 genome.wustl.edu 37 4 153692024 153692024 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 153692024 153692024 C T SNP TIGD4 ENST00000304337 human ensembl 70_37 -1 known missense c.133 p.E45K 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 27 17 38.64 31 0 0.00 TIGD4 201798 genome.wustl.edu 37 4 153692036 153692036 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 153692036 153692036 C T SNP TIGD4 ENST00000304337 human ensembl 70_37 -1 known missense c.121 p.E41K 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 32 18 36.00 36 0 0.00 TIGD5 84948 genome.wustl.edu 37 8 144681231 144681231 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144681231 144681231 C T SNP TIGD5 ENST00000504548 human ensembl 70_37 +1 known silent c.1158 p.L386 0.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD5 HGNC ENSG00000179886 8 12 60.00 13 0 0.00 TIGD6 81789 genome.wustl.edu 37 5 149374880 149374880 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 149374880 149374880 T - DEL TIGD6 ENST00000296736 human ensembl 70_37 -1 known frame_shift_del c.1032 p.E345fs 0.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 162 21 11.48 240 0 0.00 TIGD6 81789 genome.wustl.edu 37 5 149375086 149375086 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 149375086 149375086 C T SNP TIGD6 ENST00000296736 human ensembl 70_37 -1 known missense c.826 p.E276K 0.059 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 23 14 36.84 49 0 0.00 TIGD6 81789 genome.wustl.edu 37 5 149375702 149375702 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 149375702 149375702 C T SNP TIGD6 ENST00000296736 human ensembl 70_37 -1 known missense c.210 p.M70I 0.765 superfamily_Homeodomain-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 27 29 51.79 34 0 0.00 TIGD7 91151 genome.wustl.edu 37 16 3349121 3349121 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349121 3349121 C G SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1494 p.Q498H 0.998 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 100 18 15.13 95 0 0.00 TIGD7 91151 genome.wustl.edu 37 16 3349384 3349384 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349384 3349384 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1231 p.D411N 0.144 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 188 26 12.15 230 0 0.00 TIGD7 91151 genome.wustl.edu 37 16 3349537 3349537 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3349537 3349537 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1078 p.E360K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 18 6 25.00 34 0 0.00 TIGD7 91151 genome.wustl.edu 37 16 3349549 3349549 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349549 3349549 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1066 p.E356K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 72 10 12.20 60 0 0.00 TIGD7 91151 genome.wustl.edu 37 16 3349798 3349798 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 3349798 3349798 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 32 19 37.25 43 0 0.00 TIGIT 201633 genome.wustl.edu 37 3 114014436 114014436 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 114014436 114014436 G A SNP TIGIT ENST00000383671 human ensembl 70_37 +1 known missense c.106 p.E36K 0.755 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC ENSG00000181847 190 82 30.15 288 0 0.00 TIGIT 201633 genome.wustl.edu 37 3 114014651 114014651 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 114014651 114014651 C T SNP TIGIT ENST00000383671 human ensembl 70_37 +1 known silent c.321 p.F107 0.923 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC ENSG00000181847 26 11 29.73 23 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56811921 56811921 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 12 56811921 56811921 C T SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.3451 p.E1151K 0.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 174 68 28.10 260 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56815235 56815235 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56815235 56815235 G C SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known nonsense c.2768 p.S923* 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 223 40 15.21 286 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56815544 56815544 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 56815544 56815544 G A SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known nonsense c.2692 p.Q898* 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 29 4 12.12 22 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56817142 56817142 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56817142 56817142 G C SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known silent c.2208 p.L736 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 44 22 33.33 72 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56817595 56817595 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56817595 56817595 G A SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1952 p.S651F 0.040 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 47 19 28.79 61 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56822125 56822125 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56822125 56822125 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1473 p.E491D 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 80 17 17.53 96 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56822160 56822160 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56822160 56822160 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1438 p.E480Q 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 51 12 19.05 81 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56826872 56826872 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 56826872 56826872 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.469 p.E157Q 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 29 5 14.71 35 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56827324 56827324 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 56827324 56827324 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.364 p.E122Q 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 28 9 24.32 21 0 0.00 TIMELESS 8914 genome.wustl.edu 37 12 56827699 56827699 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 56827699 56827699 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.109 p.D37H 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 21 5 19.23 27 0 0.00 TIMM10 26519 genome.wustl.edu 37 11 57296203 57296203 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 57296203 57296203 G C SNP TIMM10 ENST00000257245 human ensembl 70_37 -1 known missense c.260 p.S87C 0.743 NULL pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like - no_errors TIMM10 HGNC ENSG00000134809 92 35 27.56 119 0 0.00 TIMM17B 10245 genome.wustl.edu 37 X 48750899 48750899 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 48750899 48750899 G C SNP TIMM17B ENST00000465150 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors TIMM17B HGNC ENSG00000126768 34 9 20.93 40 0 0.00 TIMM22 29928 genome.wustl.edu 37 17 900554 900554 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 900554 900554 G A SNP TIMM22 ENST00000327158 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 21 16 43.24 35 0 0.00 TIMM23 100287932 genome.wustl.edu 37 10 51623133 51623133 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 10 51623133 51623133 G A SNP TIMM23 ENST00000260867 human ensembl 70_37 -1 known missense c.82 p.H28Y 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim23 - no_errors TIMM23 HGNC ENSG00000138297 83 20 19.42 105 0 0.00 TIMM44 10469 genome.wustl.edu 37 19 7992965 7992965 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 7992965 7992965 G A SNP TIMM44 ENST00000270538 human ensembl 70_37 -1 known silent c.1125 p.V375 0.002 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 22 4 15.38 24 0 0.00 TIMM44 10469 genome.wustl.edu 37 19 7997609 7997609 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7997609 7997609 G A SNP TIMM44 ENST00000270538 human ensembl 70_37 -1 known missense c.890 p.S297L 0.999 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 92 17 15.60 96 0 0.00 TIMM8A 1678 genome.wustl.edu 37 X 100603704 100603704 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 100603704 100603704 C T SNP TIMM8A ENST00000480575 human ensembl 70_37 -1 known rna NULL NULL 0.978 - - - no_errors TIMM8A HGNC ENSG00000126953 63 22 25.88 76 0 0.00 TIMM9 26520 genome.wustl.edu 37 14 58875635 58875635 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 58875635 58875635 G A SNP TIMM9 ENST00000216463 human ensembl 70_37 -1 known rna NULL NULL 0.400 - - - no_errors TIMM9 HGNC ENSG00000100575 15 9 37.50 11 0 0.00 TIMMDC1 51300 genome.wustl.edu 37 3 119242575 119242575 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 119242575 119242575 C T SNP TIMMDC1 ENST00000494664 human ensembl 70_37 +1 known missense c.830 p.S277L 0.881 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 6 4 40.00 14 0 0.00 TIMP1 7076 genome.wustl.edu 37 X 47445206 47445206 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 47445206 47445206 C T SNP TIMP1 ENST00000377018 human ensembl 70_37 +1 known missense c.575 p.S192F 0.073 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP - no_errors TIMP1 HGNC ENSG00000102265 28 16 36.36 73 0 0.00 TIMP2 7077 genome.wustl.edu 37 17 76867018 76867018 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76867018 76867018 G A SNP TIMP2 ENST00000262768 human ensembl 70_37 -1 known missense c.302 p.S101L 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP2 HGNC ENSG00000035862 33 6 15.00 19 0 0.00 TIMP4 7079 genome.wustl.edu 37 3 12198411 12198411 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 12198411 12198411 G C SNP TIMP4 ENST00000287814 human ensembl 70_37 -1 known silent c.261 p.V87 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP4 HGNC ENSG00000157150 91 26 22.22 145 0 0.00 TINAG 27283 genome.wustl.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 54191661 54191661 C T SNP TINAG ENST00000259782 human ensembl 70_37 +1 known missense c.571 p.R191C 0.987 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 96 14 12.61 94 0 0.00 TINAG 27283 genome.wustl.edu 37 6 54214628 54214628 + Nonsense_Mutation SNP T T A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 54214628 54214628 T A SNP TINAG ENST00000259782 human ensembl 70_37 +1 known nonsense c.1014 p.C338* 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 20 4 16.67 22 0 0.00 TINAGL1 64129 genome.wustl.edu 37 1 32050317 32050317 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 32050317 32050317 C T SNP TINAGL1 ENST00000271064 human ensembl 70_37 +1 known silent c.621 p.F207 0.933 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 56 18 24.32 46 0 0.00 TINF2 26277 genome.wustl.edu 37 14 24711514 24711514 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 24711514 24711514 G A SNP TINF2 ENST00000267415 human ensembl 70_37 -1 known missense c.25 p.P9S 0.017 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 25 16 39.02 29 0 0.00 TIPARP 25976 genome.wustl.edu 37 3 156395966 156395966 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156395966 156395966 G A SNP TIPARP ENST00000295924 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 152 41 21.24 250 0 0.00 TIPIN 54962 genome.wustl.edu 37 15 66671709 66671709 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 66671709 66671709 G A SNP TIPIN ENST00000561773 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 69 30 30.30 133 0 0.00 TIPIN 54962 genome.wustl.edu 37 15 66672274 66672274 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 66672274 66672274 A T SNP TIPIN ENST00000561773 human ensembl 70_37 -1 known rna NULL NULL 0.046 - - - no_errors TIPIN HGNC ENSG00000075131 5 14 73.68 56 0 0.00 TJP1 7082 genome.wustl.edu 37 15 29996371 29996371 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 29996371 29996371 G A SNP TJP1 ENST00000356107 human ensembl 70_37 -1 novel missense c.5207 p.S1736L 1.000 smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 20 3 13.04 28 0 0.00 TJP1 7082 genome.wustl.edu 37 15 29997798 29997798 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 29997798 29997798 C G SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.5002 p.E1668Q 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 22 6 21.43 29 0 0.00 TJP1 7082 genome.wustl.edu 37 15 30012692 30012692 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 30012692 30012692 G A SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.2633 p.S878F 1.000 prints_ZonOcculdens pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 22 4 15.38 27 0 0.00 TJP1 7082 genome.wustl.edu 37 15 30018627 30018627 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30018627 30018627 T C SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.2368 p.I790V 0.976 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 66 9 12.00 63 0 0.00 TJP1 7082 genome.wustl.edu 37 15 30025009 30025009 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 30025009 30025009 G T SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.1747 p.L583I 0.976 superfamily_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 26 3 10.34 20 0 0.00 TJP1 7082 genome.wustl.edu 37 15 30034879 30034879 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 30034879 30034879 C G SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.1117 p.E373Q 0.924 prints_ZonOcculS1 pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 27 10 27.03 78 0 0.00 TJP1 7082 genome.wustl.edu 37 15 30112749 30112749 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 30112749 30112749 G A SNP TJP1 ENST00000400011 human ensembl 70_37 -1 novel missense c.20 p.S7L 0.000 superfamily_PDZ pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 11 11 50.00 31 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71789346 71789346 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 71789346 71789346 C T SNP TJP2 ENST00000377245 human ensembl 70_37 +1 known missense c.58 p.R20C 0.842 superfamily_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 84 62 42.47 165 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71831295 71831295 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 71831295 71831295 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.248 p.R83T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 23 16 41.03 45 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71844105 71844105 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 71844105 71844105 C G SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.1552 p.Q518E 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 76 49 39.20 120 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71851009 71851009 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 71851009 71851009 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.1939 p.E647Q 1.000 pfam_SH3_2,superfamily_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 48 6 11.11 28 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71855018 71855018 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 71855018 71855018 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.2614 p.D872H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 31 17 35.42 37 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71861671 71861671 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 71861671 71861671 C T SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known nonsense c.2725 p.Q909* 1.000 smart_Guanylate_kin/L-typ_Ca_channel pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 20 6 23.08 28 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71864376 71864376 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71864376 71864376 C T SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.3059 p.P1020L 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 20 9 31.03 19 0 0.00 TJP2 9414 genome.wustl.edu 37 9 71867734 71867734 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 71867734 71867734 G A SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.3418 p.E1140K 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 14 9 39.13 25 0 0.00 TJP3 27134 genome.wustl.edu 37 19 3747907 3747907 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 3747907 3747907 G A SNP TJP3 ENST00000262968 human ensembl 70_37 +1 known missense c.2537 p.G846D 1.000 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 68 8 10.53 96 0 0.00 TKT 7086 genome.wustl.edu 37 3 53262157 53262157 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 53262157 53262157 C G SNP TKT ENST00000423525 human ensembl 70_37 -1 known silent c.1488 p.L496 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 41 42 50.60 83 0 0.00 TKT 7086 genome.wustl.edu 37 3 53269050 53269050 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 53269050 53269050 G T SNP TKT ENST00000423525 human ensembl 70_37 -1 known missense c.578 p.A193D 0.925 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 28 4 12.50 53 0 0.00 TKTL1 8277 genome.wustl.edu 37 X 153524225 153524225 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 153524225 153524225 G A SNP TKTL1 ENST00000369915 human ensembl 70_37 +1 known missense c.13 p.E5K 0.024 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 141 36 20.34 156 0 0.00 TKTL1 8277 genome.wustl.edu 37 X 153524261 153524261 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 153524261 153524261 G A SNP TKTL1 ENST00000369915 human ensembl 70_37 +1 known missense c.49 p.D17N 0.764 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 26 81 75.70 124 0 0.00 TKTL2 84076 genome.wustl.edu 37 4 164393427 164393427 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 164393427 164393427 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known missense c.1460 p.P487L 0.008 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 24 15 38.46 31 0 0.00 TKTL2 84076 genome.wustl.edu 37 4 164393645 164393645 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 164393645 164393645 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known silent c.1242 p.I414 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 26 20 43.48 42 0 0.00 TKTL2 84076 genome.wustl.edu 37 4 164394281 164394281 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 164394281 164394281 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known silent c.606 p.I202 0.007 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 32 5 13.51 23 0 0.00 TLCD1 116238 genome.wustl.edu 37 17 27051702 27051702 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 27051702 27051702 G A SNP TLCD1 ENST00000292090 human ensembl 70_37 -1 known silent c.570 p.L190 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 49 28 36.36 45 0 0.00 TLCD2 727910 genome.wustl.edu 37 17 1611129 1611130 + Frame_Shift_Ins INS - - C TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 1611129 1611130 - C INS TLCD2 ENST00000330676 human ensembl 70_37 -1 novel frame_shift_ins c.730_729 p.T243fs 0.009:0.001 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD2 HGNC ENSG00000185561 25 10 28.57 57 0 0.00 TLE2 7089 genome.wustl.edu 37 19 3005538 3005538 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3005538 3005538 G A SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known missense c.1793 p.S598F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC ENSG00000065717 33 20 37.74 49 0 0.00 TLE2 7089 genome.wustl.edu 37 19 3015661 3015661 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 3015661 3015661 G C SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known nonsense c.668 p.S223* 0.001 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC ENSG00000065717 24 19 44.19 58 0 0.00 TLE2 7089 genome.wustl.edu 37 19 3025051 3025051 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 3025051 3025051 G C SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known missense c.261 p.I87M 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC ENSG00000065717 35 9 20.45 30 0 0.00 TLE4 7091 genome.wustl.edu 37 9 82286177 82286177 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 82286177 82286177 C T SNP TLE4 ENST00000462803 human ensembl 70_37 +1 known silent c.663 p.T221 0.801 NULL pfam_Groucho/TLE_N - no_errors TLE4 HGNC ENSG00000106829 16 10 38.46 26 0 0.00 TLE4 7091 genome.wustl.edu 37 9 82308552 82308552 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 82308552 82308552 G A SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.596 p.R199K 0.001 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 71 20 21.98 122 0 0.00 TLE4 7091 genome.wustl.edu 37 9 82323087 82323087 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 82323087 82323087 G A SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1087 p.D363N 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 19 11 36.67 37 0 0.00 TLE4 7091 genome.wustl.edu 37 9 82323513 82323513 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 82323513 82323513 A G SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1171 p.S391G 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 30 10 24.39 32 0 0.00 TLE4 7091 genome.wustl.edu 37 9 82323635 82323635 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 82323635 82323635 C G SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1293 p.I431M 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 24 10 29.41 47 0 0.00 TLE6 79816 genome.wustl.edu 37 19 2986844 2986844 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 2986844 2986844 G C SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known missense c.240 p.Q80H 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 26 29 52.73 71 0 0.00 TLE6 79816 genome.wustl.edu 37 19 2987353 2987353 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 2987353 2987353 G A SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known splice_site c.542-1 e7-1 0.122 - - - no_errors TLE6 HGNC ENSG00000104953 17 9 34.62 24 0 0.00 TLE6 79816 genome.wustl.edu 37 19 2988095 2988095 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2988095 2988095 C A SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known missense c.709 p.P237T 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 52 42 44.68 83 0 0.00 TLK1 9874 genome.wustl.edu 37 2 171850400 171850400 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 171850400 171850400 C A SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.2191 p.D731Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK1 HGNC ENSG00000198586 68 39 36.45 158 0 0.00 TLK1 9874 genome.wustl.edu 37 2 171906600 171906600 + Missense_Mutation SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 2 171906600 171906600 T G SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.817 p.M273L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK1 HGNC ENSG00000198586 58 7 10.77 60 0 0.00 TLK1 9874 genome.wustl.edu 37 2 172016841 172016841 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 172016841 172016841 G C SNP TLK1 ENST00000431350 human ensembl 70_37 -1 known missense c.98 p.S33C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK1 HGNC ENSG00000198586 29 15 34.09 29 0 0.00 TLK2 11011 genome.wustl.edu 37 17 60642387 60642387 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 60642387 60642387 G C SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known missense c.857 p.R286T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 46 21 30.88 67 0 0.00 TLK2 11011 genome.wustl.edu 37 17 60679417 60679417 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 60679417 60679417 G C SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known missense c.1801 p.V601L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 34 12 26.09 26 0 0.00 TLK2 11011 genome.wustl.edu 37 17 60683572 60683572 + Silent SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 60683572 60683572 G T SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known silent c.2007 p.V669 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 28 23 45.10 19 0 0.00 TLL1 7092 genome.wustl.edu 37 4 166914025 166914025 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 166914025 166914025 G A SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known missense c.350 p.R117K 1.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 32 18 36.00 54 0 0.00 TLL1 7092 genome.wustl.edu 37 4 166965573 166965573 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 166965573 166965573 C T SNP TLL1 ENST00000507499 human ensembl 70_37 +1 novel silent c.1581 p.L527 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 40 32 44.44 36 0 0.00 TLL1 7092 genome.wustl.edu 37 4 166976380 166976380 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 166976380 166976380 C T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known silent c.1677 p.D559 0.954 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 42 14 25.00 47 0 0.00 TLL1 7092 genome.wustl.edu 37 4 166976380 166976380 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 166976380 166976380 C T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known silent c.1677 p.D559 0.954 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 51 14 21.54 95 0 0.00 TLL1 7092 genome.wustl.edu 37 4 167021905 167021905 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 167021905 167021905 G T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known missense c.2919 p.E973D 0.935 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 17 23 57.50 50 0 0.00 TLL2 7093 genome.wustl.edu 37 10 98129927 98129927 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 98129927 98129927 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known silent c.2808 p.R936 0.806 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 41 12 22.64 57 0 0.00 TLL2 7093 genome.wustl.edu 37 10 98172979 98172979 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 98172979 98172979 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.1018 p.A340T 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 27 26 49.06 33 0 0.00 TLL2 7093 genome.wustl.edu 37 10 98182458 98182458 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 98182458 98182458 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.665 p.G222E 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 26 19 42.22 82 0 0.00 TLL2 7093 genome.wustl.edu 37 10 98205860 98205860 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98205860 98205860 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.352 p.E118K 0.004 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 44 30 40.54 118 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35699324 35699324 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35699324 35699324 A C SNP TLN1 ENST00000489255 human ensembl 70_37 -1 known rna NULL NULL 0.148 - - - no_errors TLN1 HGNC ENSG00000137076 30 18 37.50 56 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35704813 35704813 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35704813 35704813 C G SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known splice_site c.5734-1 e43-1 1.000 - - - no_errors TLN1 HGNC ENSG00000137076 17 15 46.88 30 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35707158 35707158 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 35707158 35707158 G A SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known silent c.4866 p.V1622 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 36 21 36.84 51 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35713251 35713251 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 35713251 35713251 C T SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known silent c.3294 p.V1098 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 61 29 32.22 85 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35717356 35717356 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 35717356 35717356 C T SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known missense c.2245 p.G749S 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 26 13 33.33 51 0 0.00 TLN1 7094 genome.wustl.edu 37 9 35717718 35717718 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 35717718 35717718 C G SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known missense c.2061 p.K687N 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 18 3 14.29 17 0 0.00 TLN2 83660 genome.wustl.edu 37 15 62942299 62942299 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 62942299 62942299 C T SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known silent c.153 p.L51 0.996 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 184 62 25.10 188 0 0.00 TLN2 83660 genome.wustl.edu 37 15 62966062 62966062 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 62966062 62966062 G A SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known silent c.825 p.Q275 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 11 6 35.29 18 0 0.00 TLN2 83660 genome.wustl.edu 37 15 63111741 63111741 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 63111741 63111741 C G SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known missense c.6798 p.F2266L 0.999 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 8 11 57.89 24 0 0.00 TLR1 7096 genome.wustl.edu 37 4 38799315 38799315 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 38799315 38799315 G C SNP TLR1 ENST00000308979 human ensembl 70_37 -1 known missense c.1138 p.Q380E 0.968 smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR1 HGNC ENSG00000174125 37 11 22.45 45 0 0.00 TLR10 81793 genome.wustl.edu 37 4 38775583 38775583 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 38775583 38775583 C G SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.1629 p.M543I 0.292 smart_Cys-rich_flank_reg_C,pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 23 23 50.00 31 0 0.00 TLR10 81793 genome.wustl.edu 37 4 38775990 38775990 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 38775990 38775990 G T SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.1222 p.L408I 0.064 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 12 4 25.00 24 0 0.00 TLR10 81793 genome.wustl.edu 37 4 38776233 38776233 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 38776233 38776233 C T SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.979 p.D327N 0.997 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 40 16 28.57 41 0 0.00 TLR10 81793 genome.wustl.edu 37 4 38777922 38777922 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 38777922 38777922 G A SNP TLR10 ENST00000507953 human ensembl 70_37 -1 known rna NULL NULL 0.705 - - - no_errors TLR10 HGNC ENSG00000174123 8 4 33.33 8 0 0.00 TLR2 7097 genome.wustl.edu 37 4 154624095 154624095 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 154624095 154624095 G A SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known silent c.36 p.G12 0.002 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC ENSG00000137462 20 13 39.39 59 0 0.00 TLR2 7097 genome.wustl.edu 37 4 154625158 154625158 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 154625158 154625158 C A SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known missense c.1099 p.L367I 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC ENSG00000137462 8 6 42.86 30 0 0.00 TLR2 7097 genome.wustl.edu 37 4 154625477 154625477 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 154625477 154625477 C G SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known missense c.1418 p.S473C 0.007 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC ENSG00000137462 97 34 25.76 61 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187000002 187000002 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187000002 187000002 C T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known silent c.450 p.I150 0.029 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 41 5 10.87 62 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187003882 187003882 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 187003882 187003882 G T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1042 p.D348Y 0.995 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 20 4 16.67 40 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187004056 187004056 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 187004056 187004056 C T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1216 p.H406Y 0.057 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 30 10 25.00 54 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187004149 187004149 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187004149 187004149 G A SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1309 p.D437N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 28 12 30.00 51 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187004428 187004428 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 187004428 187004428 G A SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1588 p.E530K 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 41 5 10.87 44 0 0.00 TLR3 7098 genome.wustl.edu 37 4 187005261 187005261 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 187005261 187005261 C G SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.2421 p.I807M 0.906 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 38 20 34.48 53 0 0.00 TLR4 7099 genome.wustl.edu 37 9 120466742 120466742 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 120466742 120466742 G A SNP TLR4 ENST00000472304 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors TLR4 HGNC ENSG00000136869 47 12 20.34 85 0 0.00 TLR4 7099 genome.wustl.edu 37 9 120475262 120475262 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 120475262 120475262 G A SNP TLR4 ENST00000355622 human ensembl 70_37 +1 known missense c.856 p.E286K 0.020 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 43 24 35.82 53 0 0.00 TLR4 7099 genome.wustl.edu 37 9 120475463 120475463 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 9 120475463 120475463 C T SNP TLR4 ENST00000355622 human ensembl 70_37 +1 known missense c.1057 p.L353F 0.986 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 51 18 26.09 33 0 0.00 TLR4 7099 genome.wustl.edu 37 9 120476131 120476131 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 120476131 120476131 T C SNP TLR4 ENST00000355622 human ensembl 70_37 +1 known silent c.1725 p.N575 0.999 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 16 11 40.74 60 0 0.00 TLR5 7100 genome.wustl.edu 37 1 223285705 223285705 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 223285705 223285705 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known missense c.669 p.F223L 1.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 12 5 29.41 20 0 0.00 TLR5 7100 genome.wustl.edu 37 1 223285920 223285920 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 223285920 223285920 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known missense c.454 p.L152V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 12 6 33.33 19 0 0.00 TLR5 7100 genome.wustl.edu 37 1 223286248 223286248 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 223286248 223286248 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known silent c.126 p.P42 0.287 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 76 17 18.28 85 0 0.00 TLR7 51284 genome.wustl.edu 37 X 12903659 12903659 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 12903659 12903659 A T SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.32 p.Q11L 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 35 8 18.60 29 0 0.00 TLR7 51284 genome.wustl.edu 37 X 12903915 12903915 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 12903915 12903915 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.288 p.F96L 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 20 10 33.33 52 0 0.00 TLR7 51284 genome.wustl.edu 37 X 12904954 12904954 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 12904954 12904954 G T SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.1327 p.G443C 0.921 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 23 4 14.81 55 0 0.00 TLR7 51284 genome.wustl.edu 37 X 12905598 12905598 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 12905598 12905598 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.1971 p.I657M 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 24 25 51.02 40 0 0.00 TLR7 51284 genome.wustl.edu 37 X 12905745 12905745 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 12905745 12905745 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known silent c.2118 p.L706 0.996 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 29 17 36.96 45 0 0.00 TLR8 51311 genome.wustl.edu 37 X 12937373 12937373 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 12937373 12937373 G C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.214 p.D72H 0.002 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 18 3 14.29 42 0 0.00 TLR8 51311 genome.wustl.edu 37 X 12937616 12937616 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 12937616 12937616 C A SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.457 p.L153I 0.606 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 21 6 22.22 53 0 0.00 TLR8 51311 genome.wustl.edu 37 X 12939888 12939888 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 12939888 12939888 A C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.2729 p.D910A 0.577 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 27 11 28.95 46 0 0.00 TLR8 51311 genome.wustl.edu 37 X 12939924 12939924 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 12939924 12939924 G C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.2765 p.W922S 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 20 14 41.18 30 0 0.00 TLR8 51311 genome.wustl.edu 37 X 12939946 12939946 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 12939946 12939946 C T SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known silent c.2787 p.I929 0.739 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 184 70 27.56 152 1 0.65 TLR8-AS1 349408 genome.wustl.edu 37 X 12921627 12921627 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 12921627 12921627 C T SNP TLR8-AS1 ENST00000451564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TLR8-AS1 HGNC ENSG00000233338 24 4 14.29 21 0 0.00 TLR9 54106 genome.wustl.edu 37 3 52255789 52255789 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52255789 52255789 T A SNP TLR9 ENST00000597542 human ensembl 70_37 -1 known missense c.2615 p.H872L 0.998 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 49 27 35.53 69 0 0.00 TLR9 54106 genome.wustl.edu 37 3 52257135 52257135 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 52257135 52257135 C G SNP TLR9 ENST00000597542 human ensembl 70_37 -1 known missense c.1269 p.Q423H 0.992 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 66 13 16.46 37 0 0.00 TLX1 3195 genome.wustl.edu 37 10 102896478 102896478 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 102896478 102896478 G A SNP TLX1 ENST00000370196 human ensembl 70_37 +1 known silent c.801 p.E267 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 27 22 44.90 26 0 0.00 TLX3 30012 genome.wustl.edu 37 5 170736771 170736771 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 170736771 170736771 C T SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known silent c.402 p.F134 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC ENSG00000164438 9 7 43.75 8 0 0.00 TLX3 30012 genome.wustl.edu 37 5 170737337 170737337 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 170737337 170737337 C T SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known missense c.605 p.S202F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC ENSG00000164438 52 17 24.64 102 0 0.00 TLX3 30012 genome.wustl.edu 37 5 170738602 170738602 + Nonstop_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 170738602 170738602 G C SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known nonstop c.875 p.*292S 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC ENSG00000164438 28 15 34.88 47 0 0.00 TM2D1 83941 genome.wustl.edu 37 1 62190936 62190936 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 62190936 62190936 G A SNP TM2D1 ENST00000371180 human ensembl 70_37 -1 known missense c.43 p.H15Y 0.000 NULL pfam_TM2 - no_errors TM2D1 HGNC ENSG00000162604 42 25 37.31 64 0 0.00 TM2D3 80213 genome.wustl.edu 37 15 102187096 102187096 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 102187096 102187096 C G SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known missense c.334 p.D112H 0.951 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 134 21 13.55 95 0 0.00 TM2D3 80213 genome.wustl.edu 37 15 102190346 102190346 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 102190346 102190346 G T SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known missense c.188 p.P63H 0.988 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 11 3 21.43 48 0 0.00 TM2D3 80213 genome.wustl.edu 37 15 102191956 102191956 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 102191956 102191956 G A SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known nonsense c.112 p.Q38* 0.255 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 30 20 40.00 49 0 0.00 TM4SF19 116211 genome.wustl.edu 37 3 196050851 196050851 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 196050851 196050851 C T SNP TM4SF19 ENST00000273695 human ensembl 70_37 -1 known missense c.467 p.R156H 0.005 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF19 HGNC ENSG00000145107 49 11 18.33 41 0 0.00 TM4SF19-AS1 100874214 genome.wustl.edu 37 3 196051385 196051385 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 196051385 196051385 G A SNP TM4SF19-AS1 ENST00000452051 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TM4SF19-AS1 HGNC ENSG00000235897 12 5 29.41 27 0 0.00 TM4SF5 9032 genome.wustl.edu 37 17 4686189 4686189 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 4686189 4686189 G C SNP TM4SF5 ENST00000270560 human ensembl 70_37 +1 known missense c.436 p.E146Q 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 26 9 25.71 38 0 0.00 TM6SF1 53346 genome.wustl.edu 37 15 83776462 83776462 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 83776462 83776462 C T SNP TM6SF1 ENST00000379386 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 22 14 38.89 44 0 0.00 TM6SF1 53346 genome.wustl.edu 37 15 83791585 83791585 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 83791585 83791585 C G SNP TM6SF1 ENST00000379386 human ensembl 70_37 +1 known missense c.567 p.F189L 1.000 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 62 16 20.51 40 0 0.00 TM6SF2 53345 genome.wustl.edu 37 19 19379487 19379487 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19379487 19379487 C T SNP TM6SF2 ENST00000389363 human ensembl 70_37 -1 known missense c.561 p.M187I 0.013 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 53 15 22.06 35 0 0.00 TM7SF2 7108 genome.wustl.edu 37 11 64882211 64882211 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 64882211 64882211 G C SNP TM7SF2 ENST00000279263 human ensembl 70_37 +1 known missense c.630 p.M210I 0.952 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 36 39 52.00 66 0 0.00 TM7SF3 51768 genome.wustl.edu 37 12 27127096 27127096 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 27127096 27127096 T G SNP TM7SF3 ENST00000343028 human ensembl 70_37 -1 known missense c.1515 p.R505S 1.000 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 43 21 32.81 75 0 0.00 TM7SF3 51768 genome.wustl.edu 37 12 27152716 27152717 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 12 27152716 27152717 - A INS TM7SF3 ENST00000539399 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 25 4 13.79 26 0 0.00 TM7SF3 51768 genome.wustl.edu 37 12 27156275 27156275 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 27156275 27156275 C G SNP TM7SF3 ENST00000343028 human ensembl 70_37 -1 known missense c.140 p.R47T 0.000 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 23 12 34.29 26 0 0.00 TM9SF1 10548 genome.wustl.edu 37 14 24659605 24659605 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 24659605 24659605 C G SNP TM9SF1 ENST00000556387 human ensembl 70_37 -1 known missense c.2035 p.G679R 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 83 11 11.70 70 0 0.00 TM9SF1 10548 genome.wustl.edu 37 14 24663944 24663944 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 24663944 24663944 C G SNP TM9SF1 ENST00000556387 human ensembl 70_37 -1 known missense c.909 p.E303D 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 36 25 40.98 33 0 0.00 TM9SF2 9375 genome.wustl.edu 37 13 100181813 100181814 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 13 100181813 100181814 - A INS TM9SF2 ENST00000376387 human ensembl 70_37 +1 known frame_shift_ins c.426_427 p.S144fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 56 35 38.46 59 0 0.00 TM9SF3 56889 genome.wustl.edu 37 10 98303715 98303715 + RNA SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 98303715 98303715 G A SNP TM9SF3 ENST00000490192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TM9SF3 HGNC ENSG00000077147 23 11 32.35 34 0 0.00 TM9SF3 56889 genome.wustl.edu 37 10 98336426 98336426 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 98336426 98336426 T C SNP TM9SF3 ENST00000371142 human ensembl 70_37 -1 known missense c.263 p.E88G 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 81 14 14.74 114 0 0.00 TMBIM1 64114 genome.wustl.edu 37 2 219142177 219142177 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219142177 219142177 C G SNP TMBIM1 ENST00000258412 human ensembl 70_37 -1 known splice_site c.552-1 e8-1 1.000 - - - no_errors TMBIM1 HGNC ENSG00000135926 57 17 22.97 75 0 0.00 TMBIM4 51643 genome.wustl.edu 37 12 66539731 66539731 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 66539731 66539731 G A SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known silent c.354 p.F118 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 22 3 12.00 32 0 0.00 TMBIM4 51643 genome.wustl.edu 37 12 66547223 66547223 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66547223 66547223 G C SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known missense c.103 p.L35V 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 7 14 66.67 15 0 0.00 TMBIM4 51643 genome.wustl.edu 37 12 66563707 66563707 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 66563707 66563707 G A SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known missense c.25 p.P9S 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 157 33 17.28 208 0 0.00 TMC1 117531 genome.wustl.edu 37 9 75315537 75315537 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 75315537 75315537 G A SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 58 30 34.09 80 0 0.00 TMC1 117531 genome.wustl.edu 37 9 75387407 75387407 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 75387407 75387407 C A SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.820 p.P274T 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 67 30 30.93 130 1 0.76 TMC1 117531 genome.wustl.edu 37 9 75420362 75420362 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 75420362 75420362 T G SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.1631 p.F544C 1.000 pfam_TMC pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 99 23 18.85 156 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2539295 2539295 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2539295 2539295 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.276 p.E92D 0.041 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 34 21 38.18 49 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2539295 2539295 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 2539295 2539295 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.276 p.E92D 0.041 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 34 4 10.53 38 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2560636 2560636 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 2560636 2560636 C T SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.768 p.L256 0.998 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 17 15 46.88 46 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2594061 2594061 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 2594061 2594061 C G SNP TMC2 ENST00000496948 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TMC2 HGNC ENSG00000149488 21 15 41.67 32 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2597805 2597805 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 2597805 2597805 G A SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2028 p.M676I 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 51 7 12.07 69 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2597838 2597838 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 2597838 2597838 A G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.2061 p.K687 0.956 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 85 12 12.37 81 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2597898 2597898 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 2597898 2597898 C G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.2121 p.L707 0.998 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 93 25 21.19 136 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2604936 2604936 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 2604936 2604936 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2200 p.D734H 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 32 12 27.27 35 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2621941 2621941 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 20 2621941 2621941 C G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2665 p.Q889E 0.293 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 41 7 14.58 36 0 0.00 TMC2 117532 genome.wustl.edu 37 20 2621973 2621973 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 2621973 2621973 G T SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2697 p.K899N 0.217 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 56 13 18.84 83 0 0.00 TMC3 342125 genome.wustl.edu 37 15 81624804 81624804 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 81624804 81624804 C T SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known missense c.3259 p.E1087K 0.010 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 12 15 55.56 38 0 0.00 TMC3 342125 genome.wustl.edu 37 15 81625474 81625474 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 81625474 81625474 G A SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known silent c.2589 p.I863 0.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 52 20 27.78 81 0 0.00 TMC3 342125 genome.wustl.edu 37 15 81635669 81635669 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 81635669 81635669 G A SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known silent c.1665 p.F555 1.000 pfam_TMC pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 19 18 48.65 32 0 0.00 TMC3 342125 genome.wustl.edu 37 15 81665068 81665068 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 81665068 81665068 C T SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known missense c.100 p.D34N 0.989 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 25 8 24.24 61 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54664211 54664211 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54664211 54664211 C T SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.2045 p.R682K 0.106 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 24 12 33.33 44 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54664213 54664213 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54664213 54664213 C T SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.2043 p.Q681 0.194 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 23 12 33.33 44 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54664722 54664722 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54664722 54664722 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.1866 p.I622 1.000 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 17 13 43.33 22 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54666432 54666432 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 54666432 54666432 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.1476 p.V492 0.001 pfam_TMC pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 16 5 23.81 23 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54667392 54667392 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54667392 54667392 C T SNP TMC4 ENST00000416963 human ensembl 70_37 -1 known missense c.34 p.A12T 0.000 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 24 15 38.46 32 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54672241 54672241 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 54672241 54672241 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.608 p.S203F 0.984 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 29 10 25.64 44 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54672253 54672253 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54672253 54672253 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.596 p.S199L 0.718 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 33 20 37.74 50 0 0.00 TMC4 147798 genome.wustl.edu 37 19 54675749 54675749 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 54675749 54675749 C A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.183 p.E61D 0.003 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 18 4 18.18 27 0 0.00 TMC5 79838 genome.wustl.edu 37 16 19451964 19451964 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 19451964 19451964 C T SNP TMC5 ENST00000396229 human ensembl 70_37 +1 known silent c.604 p.L202 0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 18 8 30.77 25 0 0.00 TMC5 79838 genome.wustl.edu 37 16 19468108 19468108 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 19468108 19468108 C G SNP TMC5 ENST00000219821 human ensembl 70_37 +1 known nonsense c.80 p.S27* 0.006 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 30 7 18.92 30 0 0.00 TMC5 79838 genome.wustl.edu 37 16 19468272 19468272 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 19468272 19468272 C G SNP TMC5 ENST00000219821 human ensembl 70_37 +1 known missense c.244 p.Q82E 0.041 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 35 17 32.69 43 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76113951 76113951 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76113951 76113951 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1953 p.V651 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 16 11 40.74 31 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76115098 76115098 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 76115098 76115098 G T SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.1841 p.P614H 1.000 pfam_TMC pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 29 4 12.12 48 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76116778 76116778 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 76116778 76116778 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1671 p.F557 0.856 pfam_TMC pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 35 23 39.66 52 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76117640 76117640 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76117640 76117640 G C SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.1380 p.I460M 0.691 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 48 35 42.17 118 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76117780 76117780 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 76117780 76117780 C T SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.1240 p.E414K 0.993 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 8 8 50.00 13 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76117792 76117792 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 76117792 76117792 C G SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.1228 p.E410Q 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 7 9 56.25 14 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76120084 76120084 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 76120084 76120084 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1068 p.I356 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 57 9 13.64 57 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76120120 76120120 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 76120120 76120120 G C SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1032 p.L344 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 58 14 19.44 84 0 0.00 TMC6 11322 genome.wustl.edu 37 17 76121965 76121965 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 76121965 76121965 C A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.272 p.G91V 1.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 46 20 30.30 53 0 0.00 TMC7 79905 genome.wustl.edu 37 16 19020719 19020719 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 19020719 19020719 C G SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.293 p.S98C 0.995 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 15 12 44.44 19 0 0.00 TMC7 79905 genome.wustl.edu 37 16 19049365 19049365 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 19049365 19049365 A C SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1175 p.K392T 0.988 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 29 10 25.64 59 0 0.00 TMC7 79905 genome.wustl.edu 37 16 19051725 19051725 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 19051725 19051725 G A SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 36 4 10.00 52 0 0.00 TMC7 79905 genome.wustl.edu 37 16 19056753 19056753 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 19056753 19056753 C T SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1546 p.P516S 1.000 pfam_TMC pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 35 4 10.00 38 0 0.00 TMC7 79905 genome.wustl.edu 37 16 19070741 19070741 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 19070741 19070741 C T SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known silent c.2031 p.L677 0.031 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 25 20 44.44 56 0 0.00 TMC8 147138 genome.wustl.edu 37 17 76128447 76128447 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 76128447 76128447 C G SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.306 p.F102L 0.978 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 13 9 40.91 22 0 0.00 TMC8 147138 genome.wustl.edu 37 17 76128481 76128481 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 76128481 76128481 C A SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.340 p.R114S 0.944 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 32 4 11.11 28 0 0.00 TMC8 147138 genome.wustl.edu 37 17 76130600 76130600 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 76130600 76130600 C G SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.942 p.I314M 0.999 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 59 13 18.06 64 0 0.00 TMCC1 23023 genome.wustl.edu 37 3 129370446 129370446 + Frame_Shift_Del DEL G G - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 129370446 129370446 G - DEL TMCC1 ENST00000393238 human ensembl 70_37 -1 known frame_shift_del c.1840 p.L614fs 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 168 21 11.11 147 0 0.00 TMCC1 23023 genome.wustl.edu 37 3 129389253 129389253 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 129389253 129389253 C T SNP TMCC1 ENST00000393238 human ensembl 70_37 -1 known silent c.1431 p.E477 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 50 11 17.74 62 0 0.00 TMCC2 9911 genome.wustl.edu 37 1 205197695 205197695 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 205197695 205197695 G A SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 72 23 23.96 62 0 0.00 TMCC2 9911 genome.wustl.edu 37 1 205210732 205210732 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 205210732 205210732 C G SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.307 p.Q103E 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 39 25 39.06 31 0 0.00 TMCC2 9911 genome.wustl.edu 37 1 205238339 205238339 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 205238339 205238339 G A SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.1009 p.E337K 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 65 24 26.97 29 0 0.00 TMCC3 57458 genome.wustl.edu 37 12 94965289 94965289 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 94965289 94965289 G A SNP TMCC3 ENST00000261226 human ensembl 70_37 -1 known silent c.1356 p.A452 0.665 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 23 12 34.29 45 0 0.00 TMCO1 54499 genome.wustl.edu 37 1 165697359 165697359 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 165697359 165697359 C T SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known splice_site c.622-1 e7-1 1.000 - - - no_errors TMCO1 HGNC ENSG00000143183 37 15 28.85 43 0 0.00 TMCO1 54499 genome.wustl.edu 37 1 165728791 165728791 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 165728791 165728791 G A SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known missense c.332 p.S111L 1.000 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 31 42 57.53 62 0 0.00 TMCO1 54499 genome.wustl.edu 37 1 165738104 165738104 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 165738104 165738104 C G SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known missense c.38 p.R13T 0.111 NULL pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 12 2 14.29 11 0 0.00 TMCO2 127391 genome.wustl.edu 37 1 40717196 40717196 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 40717196 40717196 C G SNP TMCO2 ENST00000372766 human ensembl 70_37 +1 known missense c.479 p.S160C 0.996 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 55 20 26.32 63 0 0.00 TMCO2 127391 genome.wustl.edu 37 1 40717196 40717196 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 40717196 40717196 C G SNP TMCO2 ENST00000372766 human ensembl 70_37 +1 known missense c.479 p.S160C 0.996 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 58 24 28.92 31 0 0.00 TMCO3 55002 genome.wustl.edu 37 13 114150193 114150193 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 13 114150193 114150193 C T SNP TMCO3 ENST00000434316 human ensembl 70_37 +1 known silent c.297 p.F99 1.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 39 32 45.07 39 0 0.00 TMCO3 55002 genome.wustl.edu 37 13 114201654 114201654 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 114201654 114201654 C T SNP TMCO3 ENST00000434316 human ensembl 70_37 +1 known missense c.1730 p.T577M 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 162 54 25.00 260 1 0.38 TMCO4 255104 genome.wustl.edu 37 1 20009173 20009173 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 20009173 20009173 C T SNP TMCO4 ENST00000375127 human ensembl 70_37 -1 known silent c.1692 p.E564 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 41 7 14.58 27 0 0.00 TMCO4 255104 genome.wustl.edu 37 1 20009783 20009783 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 20009783 20009783 G A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.1655 p.S552L 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 51 21 29.17 54 0 0.00 TMCO4 255104 genome.wustl.edu 37 1 20009808 20009808 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 20009808 20009808 G A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.1630 p.R544C 0.005 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 42 12 22.22 50 0 0.00 TMCO4 255104 genome.wustl.edu 37 1 20073674 20073674 + Nonsense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 20073674 20073674 C A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known nonsense c.595 p.G199* 0.999 pfam_DUF726 pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 32 4 11.11 29 0 0.00 TMCO4 255104 genome.wustl.edu 37 1 20107215 20107215 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 20107215 20107215 G T SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.37 p.Q13K 0.927 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 23 17 42.50 20 0 0.00 TMCO5A 145942 genome.wustl.edu 37 15 38229077 38229077 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 38229077 38229077 G A SNP TMCO5A ENST00000319669 human ensembl 70_37 +1 known missense c.170 p.G57D 0.015 NULL NULL - no_errors TMCO5A HGNC ENSG00000166069 24 14 36.84 28 0 0.00 TMCO5B 100652857 genome.wustl.edu 37 15 33528056 33528056 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 33528056 33528056 G A SNP TMCO5B ENST00000529696 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors TMCO5B HGNC ENSG00000215296 38 12 24.00 27 0 0.00 TMCO5B 100652857 genome.wustl.edu 37 15 33537611 33537611 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 33537611 33537611 C T SNP TMCO5B ENST00000530871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TMCO5B HGNC ENSG00000215296 20 9 31.03 39 0 0.00 TMCO6 55374 genome.wustl.edu 37 5 140019389 140019389 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140019389 140019389 G C SNP TMCO6 ENST00000252100 human ensembl 70_37 +1 known missense c.151 p.E51Q 0.987 superfamily_ARM-type_fold,pfscan_Importin-a_IBB superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 8 7 46.67 31 0 0.00 TMCO6 55374 genome.wustl.edu 37 5 140021374 140021374 + Frame_Shift_Del DEL G G - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140021374 140021374 G - DEL TMCO6 ENST00000511410 human ensembl 70_37 +1 putative frame_shift_del c.323 p.W108fs 0.005 NULL superfamily_ARM-type_fold,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 29 6 17.14 58 0 0.00 TMCO6 55374 genome.wustl.edu 37 5 140023709 140023709 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140023709 140023709 C G SNP TMCO6 ENST00000252100 human ensembl 70_37 +1 known missense c.1148 p.S383C 0.991 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 79 42 34.71 122 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 68877531 68877531 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68877531 68877531 G C SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.11 p.R4P 0.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 37 21 36.21 78 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 68894388 68894388 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 16 68894388 68894388 C G SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.696 p.F232L 1.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 14 4 22.22 32 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 68901039 68901039 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68901039 68901039 C G SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.910 p.L304V 1.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 58 28 32.56 78 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 68953050 68953050 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 68953050 68953050 G T SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.2055 p.E685D 0.908 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 35 26 42.62 59 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 69074262 69074262 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 16 69074262 69074262 C T SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.3046 p.R1016C 1.000 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 29 30 50.85 73 0 0.00 TANGO6 79613 genome.wustl.edu 37 16 69117451 69117451 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 69117451 69117451 G A SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.3172 p.D1058N 1.000 pfam_DUF2411,superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 25 17 40.48 41 0 0.00 TMED1 11018 genome.wustl.edu 37 19 10945990 10945990 + Nonsense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10945990 10945990 C A SNP TMED1 ENST00000214869 human ensembl 70_37 -1 known nonsense c.223 p.E75* 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 58 13 18.31 69 0 0.00 TMED11P 100379220 genome.wustl.edu 37 4 1109039 1109039 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 1109039 1109039 G A SNP TMED11P ENST00000502630 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMED11P HGNC ENSG00000215367 24 7 22.58 49 0 0.00 TMED11P 100379220 genome.wustl.edu 37 4 1110057 1110057 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 1110057 1110057 G C SNP TMED11P ENST00000491822 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TMED11P HGNC ENSG00000215367 27 16 37.21 35 0 0.00 TMED4 222068 genome.wustl.edu 37 7 44621746 44621746 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 44621746 44621746 G A SNP TMED4 ENST00000457408 human ensembl 70_37 -1 known silent c.60 p.L20 0.000 NULL pfam_GOLD,pfscan_GOLD - no_errors TMED4 HGNC ENSG00000158604 38 20 34.48 41 0 0.00 TMED5 50999 genome.wustl.edu 37 1 93620280 93620280 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 93620280 93620280 G C SNP TMED5 ENST00000370282 human ensembl 70_37 -1 known missense c.637 p.Q213E 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC ENSG00000117500 37 7 15.91 50 0 0.00 TMED5 50999 genome.wustl.edu 37 1 93621908 93621908 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 93621908 93621908 C G SNP TMED5 ENST00000370282 human ensembl 70_37 -1 known missense c.420 p.K140N 1.000 pfam_GOLD,superfamily_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC ENSG00000117500 15 10 40.00 26 0 0.00 TMED8 283578 genome.wustl.edu 37 14 77808308 77808308 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 77808308 77808308 C G SNP TMED8 ENST00000216468 human ensembl 70_37 -1 known missense c.784 p.E262Q 1.000 superfamily_GOLD,pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 10 10 50.00 19 0 0.00 TMED8 283578 genome.wustl.edu 37 14 77818025 77818025 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 14 77818025 77818025 G A SNP TMED8 ENST00000216468 human ensembl 70_37 -1 known missense c.188 p.S63L 0.838 NULL superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 40 7 14.89 57 0 0.00 TMEFF2 23671 genome.wustl.edu 37 2 192922421 192922421 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 192922421 192922421 C G SNP TMEFF2 ENST00000272771 human ensembl 70_37 -1 known missense c.520 p.D174H 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 30 7 18.92 51 0 0.00 TMEFF2 23671 genome.wustl.edu 37 2 193059224 193059224 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 193059224 193059224 C T SNP TMEFF2 ENST00000272771 human ensembl 70_37 -1 known silent c.27 p.Q9 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 34 20 36.36 53 0 0.00 TMEM100 55273 genome.wustl.edu 37 17 53798408 53798408 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 53798408 53798408 C T SNP TMEM100 ENST00000424486 human ensembl 70_37 -1 known silent c.24 p.E8 1.000 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 136 37 21.39 209 0 0.00 TMEM101 84336 genome.wustl.edu 37 17 42089344 42089344 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42089344 42089344 C G SNP TMEM101 ENST00000206380 human ensembl 70_37 -1 known missense c.726 p.E242D 1.000 NULL NULL - no_errors TMEM101 HGNC ENSG00000091947 37 12 24.49 36 0 0.00 TMEM101 84336 genome.wustl.edu 37 17 42090494 42090494 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42090494 42090494 G A SNP TMEM101 ENST00000206380 human ensembl 70_37 -1 known silent c.348 p.I116 1.000 NULL NULL - no_errors TMEM101 HGNC ENSG00000091947 37 11 22.92 40 0 0.00 TMEM102 284114 genome.wustl.edu 37 17 7339258 7339258 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 7339258 7339258 T A SNP TMEM102 ENST00000323206 human ensembl 70_37 +1 known missense c.68 p.L23H 1.000 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 42 19 31.15 68 0 0.00 TMEM102 284114 genome.wustl.edu 37 17 7340051 7340051 + Silent SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 7340051 7340051 G T SNP TMEM102 ENST00000323206 human ensembl 70_37 +1 known silent c.753 p.P251 0.000 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 12 3 18.75 45 0 0.00 TMEM104 54868 genome.wustl.edu 37 17 72832424 72832424 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 72832424 72832424 C T SNP TMEM104 ENST00000335464 human ensembl 70_37 +1 known silent c.1089 p.F363 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 231 99 29.91 367 0 0.00 TMEM104 54868 genome.wustl.edu 37 17 72832676 72832676 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 72832676 72832676 G A SNP TMEM104 ENST00000335464 human ensembl 70_37 +1 known silent c.1341 p.R447 0.989 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 30 13 29.55 26 0 0.00 TMEM106B 54664 genome.wustl.edu 37 7 12255285 12255285 + Silent SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 7 12255285 12255285 C T SNP TMEM106B ENST00000420833 human ensembl 70_37 +1 known silent c.273 p.I91 0.037 NULL pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 61 33 35.11 77 0 0.00 TMEM107 84314 genome.wustl.edu 37 17 8077884 8077884 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8077884 8077884 C G SNP TMEM107 ENST00000316425 human ensembl 70_37 -1 known missense c.325 p.E109Q 1.000 NULL NULL - no_errors TMEM107 HGNC ENSG00000179029 16 8 33.33 20 0 0.00 TMEM108 66000 genome.wustl.edu 37 3 133099023 133099024 + Frame_Shift_Ins INS - - C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 133099023 133099024 - C INS TMEM108 ENST00000321871 human ensembl 70_37 +1 known frame_shift_ins c.468_469 p.R158fs 0.000:0.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 18 6 25.00 19 0 0.00 TMEM108 66000 genome.wustl.edu 37 3 133099751 133099751 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 133099751 133099751 G A SNP TMEM108 ENST00000321871 human ensembl 70_37 +1 known missense c.1196 p.G399E 0.004 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 41 6 12.77 68 0 0.00 TMEM108 66000 genome.wustl.edu 37 3 133109176 133109176 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 133109176 133109176 G C SNP TMEM108 ENST00000321871 human ensembl 70_37 +1 known missense c.1603 p.E535Q 0.998 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 28 9 24.32 33 0 0.00 TMEM109 79073 genome.wustl.edu 37 11 60690641 60690641 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60690641 60690641 G A SNP TMEM109 ENST00000540280 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMEM109 HGNC ENSG00000110108 30 23 43.40 66 0 0.00 TMEM109 79073 genome.wustl.edu 37 11 60690680 60690680 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60690680 60690680 G A SNP TMEM109 ENST00000540280 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMEM109 HGNC ENSG00000110108 48 44 47.83 107 1 0.93 TMEM115 11070 genome.wustl.edu 37 3 50395801 50395801 + Frame_Shift_Del DEL G G - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 50395801 50395801 G - DEL TMEM115 ENST00000266025 human ensembl 70_37 -1 known frame_shift_del c.694 p.L232fs 1.000 NULL pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC ENSG00000126062 36 21 36.84 59 0 0.00 TMEM115 11070 genome.wustl.edu 37 3 50396227 50396227 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 50396227 50396227 C G SNP TMEM115 ENST00000266025 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_DUF1751_Mem_euk pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC ENSG00000126062 43 9 17.31 69 0 0.00 TMEM115 11070 genome.wustl.edu 37 3 50396484 50396484 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 50396484 50396484 G A SNP TMEM115 ENST00000266025 human ensembl 70_37 -1 known missense c.11 p.A4V 1.000 NULL pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC ENSG00000126062 10 7 41.18 34 0 0.00 TMEM117 84216 genome.wustl.edu 37 12 44605135 44605135 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 44605135 44605135 C G SNP TMEM117 ENST00000266534 human ensembl 70_37 +1 known missense c.573 p.F191L 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 23 15 39.47 20 0 0.00 TMEM117 84216 genome.wustl.edu 37 12 44693454 44693454 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 44693454 44693454 A G SNP TMEM117 ENST00000266534 human ensembl 70_37 +1 known missense c.700 p.S234G 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 92 26 21.67 103 0 0.00 TMEM117 84216 genome.wustl.edu 37 12 44782997 44782997 + RNA SNP T T A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 44782997 44782997 T A SNP TMEM117 ENST00000546978 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors TMEM117 HGNC ENSG00000139173 23 20 46.51 38 0 0.00 TMEM120A 83862 genome.wustl.edu 37 7 75616500 75616500 + RNA DEL T T - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 7 75616500 75616500 T - DEL TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors TMEM120A HGNC ENSG00000189077 31 16 34.04 49 0 0.00 TMEM120A 83862 genome.wustl.edu 37 7 75616592 75616592 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 75616592 75616592 G A SNP TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors TMEM120A HGNC ENSG00000189077 57 20 25.97 82 0 0.00 TMEM120A 83862 genome.wustl.edu 37 7 75616635 75616635 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 75616635 75616635 G A SNP TMEM120A ENST00000417509 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM120A HGNC ENSG00000189077 74 12 13.95 82 0 0.00 TMEM120A 83862 genome.wustl.edu 37 7 75621563 75621563 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75621563 75621563 G C SNP TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.111 - - - no_errors TMEM120A HGNC ENSG00000189077 38 32 45.71 80 0 0.00 TMEM120B 144404 genome.wustl.edu 37 12 122209422 122209422 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 122209422 122209422 C T SNP TMEM120B ENST00000342607 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 94 13 12.15 114 0 0.00 TMEM120B 144404 genome.wustl.edu 37 12 122212993 122212993 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 122212993 122212993 C G SNP TMEM120B ENST00000342607 human ensembl 70_37 +1 known missense c.863 p.T288R 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 41 7 14.58 59 0 0.00 TMEM121 80757 genome.wustl.edu 37 14 105995723 105995723 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 105995723 105995723 C G SNP TMEM121 ENST00000392519 human ensembl 70_37 +1 known missense c.552 p.F184L 1.000 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 45 12 21.05 62 0 0.00 TMEM123 114908 genome.wustl.edu 37 11 102323292 102323292 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 102323292 102323292 C T SNP TMEM123 ENST00000398136 human ensembl 70_37 -1 known silent c.63 p.A21 0.153 NULL NULL - no_errors TMEM123 HGNC ENSG00000152558 14 9 39.13 9 0 0.00 TMEM126A 84233 genome.wustl.edu 37 11 85361308 85361308 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 85361308 85361308 T G SNP TMEM126A ENST00000304511 human ensembl 70_37 +1 known missense c.9 p.N3K 1.000 NULL pfam_DUF1370_TMEM126 - no_errors TMEM126A HGNC ENSG00000171202 12 6 33.33 29 0 0.00 TMEM127 55654 genome.wustl.edu 37 2 96920718 96920718 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 96920718 96920718 G C SNP TMEM127 ENST00000258439 human ensembl 70_37 -1 known missense c.262 p.Q88E 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 15 10 40.00 19 0 0.00 TMEM129 92305 genome.wustl.edu 37 4 1719975 1719975 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 4 1719975 1719975 C T SNP TMEM129 ENST00000382936 human ensembl 70_37 -1 known missense c.584 p.R195Q 0.528 pfam_Tmpp129 pfam_Tmpp129 - no_errors TMEM129 HGNC ENSG00000168936 11 7 38.89 39 0 0.00 TMEM130 222865 genome.wustl.edu 37 7 98452918 98452918 + Missense_Mutation SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 98452918 98452918 G T SNP TMEM130 ENST00000416379 human ensembl 70_37 -1 known missense c.748 p.P250T 0.036 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 37 38 50.67 87 0 0.00 TMEM130 222865 genome.wustl.edu 37 7 98460788 98460788 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 98460788 98460788 G A SNP TMEM130 ENST00000416379 human ensembl 70_37 -1 known silent c.321 p.V107 1.000 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 59 10 14.49 74 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98388811 98388811 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 98388811 98388811 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.4397 p.S1466N 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 35 4 10.26 53 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 98409038 98409038 C G SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3955 p.E1319Q 0.036 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 30 12 28.57 43 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 98409038 98409038 C G SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3955 p.E1319Q 0.036 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 43 12 21.82 43 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98412696 98412696 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98412696 98412696 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3185 p.R1062K 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 20 6 23.08 22 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98421889 98421889 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 98421889 98421889 C G SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.2234 p.G745A 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 20 14 41.18 21 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98426211 98426211 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 98426211 98426211 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known silent c.1995 p.V665 0.994 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 18 13 39.39 26 0 0.00 TMEM131 23505 genome.wustl.edu 37 2 98449874 98449874 + Nonsense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 98449874 98449874 A C SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known nonsense c.1028 p.L343* 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 18 6 25.00 42 0 0.00 TMEM132A 54972 genome.wustl.edu 37 11 60702840 60702840 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 60702840 60702840 G C SNP TMEM132A ENST00000005286 human ensembl 70_37 +1 known missense c.1956 p.L652F 0.992 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 25 6 19.35 33 0 0.00 TMEM132A 54972 genome.wustl.edu 37 11 60703567 60703567 + Missense_Mutation SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 11 60703567 60703567 C T SNP TMEM132A ENST00000005286 human ensembl 70_37 +1 known missense c.2263 p.R755C 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 16 7 30.43 24 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 125811144 125811144 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 125811144 125811144 C T SNP TMEM132B ENST00000535330 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM132B HGNC ENSG00000139364 16 7 30.43 21 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 125834468 125834468 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 125834468 125834468 C G SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.523 p.R175G 0.998 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 18 13 40.62 29 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 126128683 126128683 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 126128683 126128683 C T SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.1484 p.T495M 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 41 15 26.79 35 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 126128683 126128683 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 126128683 126128683 C T SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.1484 p.T495M 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 69 16 18.82 151 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 126138738 126138738 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 126138738 126138738 G A SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.2719 p.V907I 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 77 14 15.38 63 0 0.00 TMEM132B 114795 genome.wustl.edu 37 12 126139090 126139090 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 126139090 126139090 T A SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.3071 p.V1024D 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 25 11 30.56 45 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 128899683 128899683 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 128899683 128899683 G A SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known silent c.492 p.G164 0.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 12 3 20.00 32 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 128899777 128899777 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 12 128899777 128899777 G T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.586 p.A196S 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 20 16 44.44 20 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 128900152 128900152 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 128900152 128900152 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.961 p.L321F 0.583 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 13 12 48.00 34 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129028589 129028589 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 129028589 129028589 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known silent c.1062 p.G354 0.986 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 26 8 23.53 41 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129178524 129178524 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 129178524 129178524 G A SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.1600 p.D534N 0.998 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 19 21 52.50 51 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129189681 129189681 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 129189681 129189681 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.2168 p.T723M 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 31 16 33.33 59 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129189821 129189821 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 129189821 129189821 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known nonsense c.2308 p.R770* 0.991 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 25 13 34.21 36 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129189963 129189963 + Missense_Mutation SNP T T C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 12 129189963 129189963 T C SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.2450 p.I817T 0.702 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 15 10 40.00 14 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129189973 129189973 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 12 129189973 129189973 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known silent c.2460 p.H820 0.996 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 10 12 54.55 23 0 0.00 TMEM132C 92293 genome.wustl.edu 37 12 129190459 129190459 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 129190459 129190459 G T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.2946 p.E982D 0.956 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 35 4 10.26 57 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 129558610 129558610 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 129558610 129558610 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.3110 p.S1037F 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 21 42 66.67 45 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 129558618 129558618 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 12 129558618 129558618 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known silent c.3102 p.P1034 0.925 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 39 10 20.41 41 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 129558758 129558758 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 129558758 129558758 T G SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.2962 p.I988L 0.227 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 23 13 36.11 56 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 129563184 129563184 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 129563184 129563184 C T SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known silent c.2010 p.V670 0.934 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 47 9 16.07 49 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 129566467 129566467 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 129566467 129566467 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.1760 p.A587V 0.577 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 60 9 12.86 59 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 130015619 130015619 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 130015619 130015619 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.1100 p.A367V 0.006 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 24 4 14.29 44 0 0.00 TMEM132D 121256 genome.wustl.edu 37 12 130184363 130184363 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 130184363 130184363 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known silent c.960 p.F320 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 35 15 30.00 37 0 0.00 TMEM132E 124842 genome.wustl.edu 37 17 32953295 32953295 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 32953295 32953295 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known silent c.217 p.L73 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 68 33 32.67 105 0 0.00 TMEM132E 124842 genome.wustl.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 32956104 32956104 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.949 p.R317W 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 48 48 50.00 24 0 0.00 TMEM132E 124842 genome.wustl.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 32956104 32956104 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.949 p.R317W 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 85 41 32.54 130 0 0.00 TMEM132E 124842 genome.wustl.edu 37 17 32964460 32964460 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 32964460 32964460 C A SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.2164 p.H722N 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 33 30 47.62 30 0 0.00 TMEM134 80194 genome.wustl.edu 37 11 67231843 67231843 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67231843 67231843 C T SNP TMEM134 ENST00000535813 human ensembl 70_37 -1 known rna NULL NULL 0.520 - - - no_errors TMEM134 HGNC ENSG00000172663 63 11 14.86 53 0 0.00 TMEM134 80194 genome.wustl.edu 37 11 67232007 67232007 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 67232007 67232007 C T SNP TMEM134 ENST00000535813 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM134 HGNC ENSG00000172663 64 11 14.67 58 0 0.00 TMEM135 65084 genome.wustl.edu 37 11 87020555 87020555 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 87020555 87020555 C G SNP TMEM135 ENST00000305494 human ensembl 70_37 +1 known missense c.777 p.I259M 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 13 17 56.67 60 0 0.00 TMEM138 51524 genome.wustl.edu 37 11 61136174 61136174 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 61136174 61136174 G T SNP TMEM138 ENST00000278826 human ensembl 70_37 +1 known missense c.482 p.R161L 0.996 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 21 4 15.38 23 0 0.00 TMEM141 85014 genome.wustl.edu 37 9 139686128 139686128 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139686128 139686128 G C SNP TMEM141 ENST00000465017 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM141 HGNC ENSG00000244187 18 16 47.06 24 0 0.00 TMEM141 85014 genome.wustl.edu 37 9 139686777 139686777 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139686777 139686777 G T SNP TMEM141 ENST00000290079 human ensembl 70_37 +1 known nonsense c.280 p.E94* 1.000 NULL NULL - no_errors TMEM141 HGNC ENSG00000244187 11 10 47.62 45 0 0.00 TMEM143 55260 genome.wustl.edu 37 19 48836562 48836562 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 48836562 48836562 G A SNP TMEM143 ENST00000293261 human ensembl 70_37 -1 known missense c.1294 p.P432S 0.960 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 42 29 40.85 61 0 0.00 TMEM144 55314 genome.wustl.edu 37 4 159140497 159140497 + Nonsense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 159140497 159140497 C G SNP TMEM144 ENST00000296529 human ensembl 70_37 +1 known nonsense c.368 p.S123* 0.756 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 60 38 38.78 126 1 0.79 TMEM145 284339 genome.wustl.edu 37 19 42818959 42818959 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 42818959 42818959 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known missense c.376 p.G126R 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 46 11 19.30 32 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42818970 42818970 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42818970 42818970 C T SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.387 p.Y129 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 9 4 30.77 22 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42820703 42820703 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 42820703 42820703 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.717 p.V239 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 42 9 17.65 39 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42820827 42820827 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 42820827 42820827 C T SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.741 p.F247 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 14 8 36.36 36 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42821049 42821049 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42821049 42821049 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.834 p.V278 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 31 15 32.61 38 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42821970 42821970 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42821970 42821970 C G SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known nonsense c.1010 p.S337* 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 34 19 35.85 37 0 0.00 TMEM145 284339 genome.wustl.edu 37 19 42827764 42827764 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42827764 42827764 G C SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known missense c.1224 p.K408N 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 51 10 16.39 33 0 0.00 TMEM147 10430 genome.wustl.edu 37 19 36037436 36037436 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36037436 36037436 C A SNP TMEM147 ENST00000222284 human ensembl 70_37 +1 known missense c.156 p.F52L 1.000 pfam_DUF2053_membrane pfam_DUF2053_membrane - no_errors TMEM147 HGNC ENSG00000105677 102 13 11.30 165 0 0.00 TMEM14A 28978 genome.wustl.edu 37 6 52541933 52541933 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 52541933 52541933 C T SNP TMEM14A ENST00000211314 human ensembl 70_37 +1 known silent c.33 p.L11 0.218 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14A HGNC ENSG00000096092 46 14 23.33 79 0 0.00 TMEM14B 81853 genome.wustl.edu 37 6 10749469 10749469 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10749469 10749469 G C SNP TMEM14B ENST00000492297 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors TMEM14B HGNC ENSG00000137210 41 9 17.65 53 0 0.00 TMEM14B 81853 genome.wustl.edu 37 6 10749477 10749477 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10749477 10749477 G A SNP TMEM14B ENST00000492297 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors TMEM14B HGNC ENSG00000137210 40 8 16.33 52 0 0.00 TMEM14B 81853 genome.wustl.edu 37 6 10756863 10756864 + RNA INS - - AA TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 10756863 10756864 - AA INS TMEM14B ENST00000486421 human ensembl 70_37 +1 known rna NULL NULL 0.029:0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 25 4 13.79 19 0 0.00 TMEM14B 81853 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 12 5 29.41 8 0 0.00 TMEM150A 129303 genome.wustl.edu 37 2 85828196 85828196 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 85828196 85828196 C T SNP TMEM150A ENST00000334462 human ensembl 70_37 -1 known missense c.148 p.E50K 0.021 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 15 11 42.31 25 0 0.00 TMEM150B 284417 genome.wustl.edu 37 19 55824298 55824298 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 55824298 55824298 G A SNP TMEM150B ENST00000326652 human ensembl 70_37 -1 known silent c.631 p.L211 0.992 NULL pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150B HGNC ENSG00000180061 68 10 12.82 93 0 0.00 TMEM151A 256472 genome.wustl.edu 37 11 66062524 66062524 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 66062524 66062524 G A SNP TMEM151A ENST00000327259 human ensembl 70_37 +1 known silent c.807 p.S269 0.104 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 7 6 46.15 15 0 0.00 TMEM151B 441151 genome.wustl.edu 37 6 44240838 44240838 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 44240838 44240838 C T SNP TMEM151B ENST00000451188 human ensembl 70_37 +1 known silent c.171 p.L57 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 47 18 27.69 64 0 0.00 TMEM151B 441151 genome.wustl.edu 37 6 44243269 44243269 + Nonsense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 44243269 44243269 A T SNP TMEM151B ENST00000451188 human ensembl 70_37 +1 known nonsense c.706 p.K236* 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 36 20 35.71 69 0 0.00 TMEM156 80008 genome.wustl.edu 37 4 39000444 39000444 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 39000444 39000444 C T SNP TMEM156 ENST00000381938 human ensembl 70_37 -1 known silent c.174 p.V58 0.938 NULL NULL - no_errors TMEM156 HGNC ENSG00000121895 36 14 28.00 37 0 0.00 TMEM161B 153396 genome.wustl.edu 37 5 87494811 87494811 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 5 87494811 87494811 C T SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known silent c.1071 p.T357 0.043 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 9 17 65.38 51 0 0.00 TMEM161B 153396 genome.wustl.edu 37 5 87498893 87498893 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 87498893 87498893 C T SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known splice_site c.801-1 e9-1 1.000 - - - no_errors TMEM161B HGNC ENSG00000164180 11 3 21.43 24 0 0.00 TMEM161B 153396 genome.wustl.edu 37 5 87521625 87521625 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 87521625 87521625 G A SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known missense c.250 p.H84Y 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 51 8 13.56 60 0 0.00 TMEM161B 153396 genome.wustl.edu 37 5 87564617 87564617 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 87564617 87564617 G C SNP TMEM161B ENST00000503194 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors TMEM161B HGNC ENSG00000164180 43 36 45.57 61 0 0.00 TMEM163 81615 genome.wustl.edu 37 2 135214288 135214288 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 135214288 135214288 C T SNP TMEM163 ENST00000281924 human ensembl 70_37 -1 known silent c.869 p.*290 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 29 5 14.71 41 0 0.00 TMEM163 81615 genome.wustl.edu 37 2 135223716 135223716 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 135223716 135223716 C A SNP TMEM163 ENST00000281924 human ensembl 70_37 -1 known missense c.636 p.K212N 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 15 2 11.76 30 0 0.00 TMEM164 84187 genome.wustl.edu 37 X 109247278 109247278 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 109247278 109247278 G C SNP TMEM164 ENST00000372068 human ensembl 70_37 +1 known missense c.276 p.K92N 1.000 NULL NULL - no_errors TMEM164 HGNC ENSG00000157600 95 30 24.00 132 0 0.00 TMEM165 55858 genome.wustl.edu 37 4 56277808 56277808 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 56277808 56277808 C T SNP TMEM165 ENST00000381334 human ensembl 70_37 +1 known missense c.235 p.H79Y 0.981 NULL pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 15 9 37.50 22 0 0.00 TMEM165 55858 genome.wustl.edu 37 4 56291621 56291622 + RNA DEL AA AA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 56291621 56291622 AA - DEL TMEM165 ENST00000508561 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.001 - - - no_errors TMEM165 HGNC ENSG00000134851 92 13 12.38 74 0 0.00 TMEM167A 153339 genome.wustl.edu 37 5 82357701 82357701 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82357701 82357701 C T SNP TMEM167A ENST00000502346 human ensembl 70_37 -1 known missense c.143 p.R48K 1.000 NULL pfam_DUF1242 - no_errors TMEM167A HGNC ENSG00000174695 29 12 29.27 29 0 0.00 TMEM167B 56900 genome.wustl.edu 37 1 109635591 109635591 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 109635591 109635591 C G SNP TMEM167B ENST00000338272 human ensembl 70_37 +1 known silent c.90 p.L30 0.998 pfam_DUF1242 pfam_DUF1242 - no_errors TMEM167B HGNC ENSG00000215717 48 21 30.43 74 0 0.00 TMEM167B 56900 genome.wustl.edu 37 1 109637429 109637429 + RNA SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 1 109637429 109637429 C A SNP TMEM167B ENST00000479160 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors TMEM167B HGNC ENSG00000215717 35 12 25.53 27 0 0.00 TMEM168 64418 genome.wustl.edu 37 7 112407779 112407779 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 112407779 112407779 C T SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known missense c.1567 p.D523N 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 24 13 35.14 53 0 0.00 TMEM168 64418 genome.wustl.edu 37 7 112424409 112424409 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 112424409 112424409 C T SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known missense c.472 p.E158K 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 68 14 17.07 97 0 0.00 TMEM168 64418 genome.wustl.edu 37 7 112424578 112424578 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 112424578 112424578 G A SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known silent c.303 p.F101 0.999 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 17 2 10.53 20 0 0.00 TMEM169 92691 genome.wustl.edu 37 2 216964747 216964747 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 216964747 216964747 G C SNP TMEM169 ENST00000295658 human ensembl 70_37 +1 known missense c.376 p.E126Q 1.000 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 59 22 27.16 39 0 0.00 TMEM169 92691 genome.wustl.edu 37 2 216964767 216964767 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 216964767 216964767 G A SNP TMEM169 ENST00000295658 human ensembl 70_37 +1 known silent c.396 p.L132 1.000 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 85 33 27.97 130 0 0.00 TMEM171 134285 genome.wustl.edu 37 5 72419680 72419680 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 72419680 72419680 C T SNP TMEM171 ENST00000454765 human ensembl 70_37 +1 known silent c.480 p.F160 0.997 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 137 21 13.29 259 0 0.00 TMEM174 134288 genome.wustl.edu 37 5 72469967 72469967 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 72469967 72469967 A G SNP TMEM174 ENST00000296776 human ensembl 70_37 +1 known missense c.707 p.E236G 1.000 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 61 34 35.79 34 0 0.00 TMEM174 134288 genome.wustl.edu 37 5 72469967 72469967 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 72469967 72469967 A G SNP TMEM174 ENST00000296776 human ensembl 70_37 +1 known missense c.707 p.E236G 1.000 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 65 21 24.42 80 0 0.00 TMEM175 84286 genome.wustl.edu 37 4 946159 946159 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 946159 946159 C T SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.383 p.S128L 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 41 20 32.79 91 0 0.00 TMEM175 84286 genome.wustl.edu 37 4 947120 947120 + Missense_Mutation SNP T T G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 947120 947120 T G SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.605 p.F202C 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 22 14 38.89 40 0 0.00 TMEM175 84286 genome.wustl.edu 37 4 952031 952031 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 952031 952031 C A SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.1262 p.A421D 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 31 16 34.04 36 0 0.00 TMEM176A 55365 genome.wustl.edu 37 7 150499329 150499329 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 150499329 150499329 G C SNP TMEM176A ENST00000004103 human ensembl 70_37 +1 known missense c.201 p.L67F 0.004 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC ENSG00000002933 62 31 33.33 122 0 0.00 TMEM176A 55365 genome.wustl.edu 37 7 150500755 150500755 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 150500755 150500755 C T SNP TMEM176A ENST00000004103 human ensembl 70_37 +1 known silent c.390 p.I130 0.000 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC ENSG00000002933 23 7 23.33 47 0 0.00 TMEM176B 28959 genome.wustl.edu 37 7 150491133 150491133 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 150491133 150491133 C G SNP TMEM176B ENST00000326442 human ensembl 70_37 -1 known silent c.231 p.V77 0.799 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 18 26 59.09 38 0 0.00 TMEM176B 28959 genome.wustl.edu 37 7 150493471 150493471 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 150493471 150493471 C G SNP TMEM176B ENST00000326442 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 91 26 22.22 121 0 0.00 TMEM177 80775 genome.wustl.edu 37 2 120439094 120439094 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 120439094 120439094 C G SNP TMEM177 ENST00000272521 human ensembl 70_37 +1 known missense c.665 p.S222C 1.000 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 21 11 34.38 25 0 0.00 TMEM178A 130733 genome.wustl.edu 37 2 39931262 39931262 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 39931262 39931262 C T SNP TMEM178A ENST00000281961 human ensembl 70_37 +1 known nonsense c.442 p.Q148* 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 33 12 26.67 32 0 0.00 TMEM178B 100507421 genome.wustl.edu 37 7 141137413 141137413 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 141137413 141137413 C T SNP TMEM178B ENST00000565468 human ensembl 70_37 +1 putative missense c.502 p.R168C 1.000 NULL NULL - no_errors TMEM178B HGNC ENSG00000261115 33 14 29.79 60 0 0.00 TMEM18 129787 genome.wustl.edu 37 2 669621 669621 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 669621 669621 C G SNP TMEM18 ENST00000281017 human ensembl 70_37 -1 known missense c.382 p.E128Q 0.000 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 46 17 26.98 59 0 0.00 TMEM180 79847 genome.wustl.edu 37 10 104231094 104231094 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 104231094 104231094 C T SNP TMEM180 ENST00000238936 human ensembl 70_37 +1 known missense c.769 p.L257F 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 82 30 26.79 68 0 0.00 TMEM181 57583 genome.wustl.edu 37 6 159029698 159029698 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 159029698 159029698 G C SNP TMEM181 ENST00000367090 human ensembl 70_37 +1 known missense c.1223 p.R408T 0.997 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 19 30 61.22 70 0 0.00 TMEM182 130827 genome.wustl.edu 37 2 103380846 103380846 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 103380846 103380846 G A SNP TMEM182 ENST00000412401 human ensembl 70_37 +1 known missense c.291 p.M97I 0.793 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 29 16 35.56 29 0 0.00 TMEM182 130827 genome.wustl.edu 37 2 103431219 103431219 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 103431219 103431219 C T SNP TMEM182 ENST00000412401 human ensembl 70_37 +1 known missense c.482 p.S161L 0.453 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 99 14 12.28 84 0 0.00 TMEM183A 92703 genome.wustl.edu 37 1 202985216 202985216 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 202985216 202985216 C T SNP TMEM183A ENST00000367242 human ensembl 70_37 +1 known missense c.656 p.S219F 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors TMEM183A HGNC ENSG00000163444 75 42 35.90 93 0 0.00 TMEM184A 202915 genome.wustl.edu 37 7 1588237 1588237 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 1588237 1588237 G A SNP TMEM184A ENST00000297477 human ensembl 70_37 -1 known silent c.732 p.T244 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 93 32 25.60 188 0 0.00 TMEM184A 202915 genome.wustl.edu 37 7 1590534 1590534 + Missense_Mutation SNP A A T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 1590534 1590534 A T SNP TMEM184A ENST00000297477 human ensembl 70_37 -1 known missense c.304 p.F102I 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 23 5 17.86 31 0 0.00 TMEM184C 55751 genome.wustl.edu 37 4 148554065 148554065 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 148554065 148554065 T G SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known missense c.791 p.V264G 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 35 14 28.57 96 0 0.00 TMEM184C 55751 genome.wustl.edu 37 4 148554078 148554078 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 148554078 148554078 G A SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known silent c.804 p.L268 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 76 20 20.83 48 0 0.00 TMEM184C 55751 genome.wustl.edu 37 4 148555364 148555364 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 148555364 148555364 G T SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known missense c.1096 p.D366Y 1.000 NULL pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 11 5 31.25 27 0 0.00 TMEM185B 79134 genome.wustl.edu 37 2 120979971 120979971 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120979971 120979971 G C SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known silent c.582 p.L194 0.989 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC ENSG00000226479 53 26 32.91 26 0 0.00 TMEM185B 79134 genome.wustl.edu 37 2 120980298 120980298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 120980298 120980298 C T SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known silent c.255 p.L85 1.000 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC ENSG00000226479 21 26 55.32 36 0 0.00 TMEM185B 79134 genome.wustl.edu 37 2 120980339 120980339 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 120980339 120980339 G C SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known missense c.214 p.R72G 0.999 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC ENSG00000226479 60 17 22.08 34 0 0.00 TMEM187 8269 genome.wustl.edu 37 X 153248009 153248009 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 153248009 153248009 G A SNP TMEM187 ENST00000369982 human ensembl 70_37 +1 known missense c.496 p.A166T 0.007 NULL NULL - no_errors TMEM187 HGNC ENSG00000177854 73 22 23.16 92 0 0.00 TMEM187 8269 genome.wustl.edu 37 X 153248290 153248290 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 153248290 153248290 G A SNP TMEM187 ENST00000369982 human ensembl 70_37 +1 known silent c.777 p.K259 0.005 NULL NULL - no_errors TMEM187 HGNC ENSG00000177854 47 15 24.19 45 0 0.00 TMEM190 147744 genome.wustl.edu 37 19 55889252 55889252 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55889252 55889252 C G SNP TMEM190 ENST00000291934 human ensembl 70_37 +1 known missense c.303 p.F101L 0.998 NULL superfamily_P_trefoil - no_errors TMEM190 HGNC ENSG00000160472 25 14 35.00 39 0 0.00 TMEM191A 84222 genome.wustl.edu 37 22 21056386 21056386 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21056386 21056386 G A SNP TMEM191A ENST00000450925 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors TMEM191A HGNC ENSG00000226287 10 7 41.18 11 0 0.00 TMEM191A 84222 genome.wustl.edu 37 22 21056444 21056444 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 21056444 21056444 G A SNP TMEM191A ENST00000450925 human ensembl 70_37 +1 known rna NULL NULL 0.551 - - - no_errors TMEM191A HGNC ENSG00000226287 25 17 40.48 23 0 0.00 TMEM191A 84222 genome.wustl.edu 37 22 21058272 21058272 + RNA SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 21058272 21058272 C A SNP TMEM191A ENST00000419950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM191A HGNC ENSG00000226287 40 36 47.37 77 0 0.00 TMEM192 201931 genome.wustl.edu 37 4 166000823 166000823 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 166000823 166000823 G C SNP TMEM192 ENST00000306480 human ensembl 70_37 -1 known missense c.803 p.P268R 0.047 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 31 52 62.65 69 0 0.00 TMEM194A 23306 genome.wustl.edu 37 12 57464515 57464515 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 57464515 57464515 G A SNP TMEM194A ENST00000300128 human ensembl 70_37 -1 known silent c.414 p.T138 1.000 NULL pfam_TMEM194 - no_errors TMEM194A HGNC ENSG00000166881 65 26 28.57 46 0 0.00 TMEM194B 100131211 genome.wustl.edu 37 2 191375108 191375108 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 191375108 191375108 G C SNP TMEM194B ENST00000409150 human ensembl 70_37 -1 known missense c.1109 p.S370C 0.992 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194B HGNC ENSG00000189362 41 30 42.25 91 0 0.00 TMEM196 256130 genome.wustl.edu 37 7 19765158 19765158 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 19765158 19765158 G T SNP TMEM196 ENST00000405764 human ensembl 70_37 -1 known missense c.438 p.H146Q 0.998 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 35 4 10.26 42 0 0.00 TMEM196 256130 genome.wustl.edu 37 7 19812188 19812188 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 19812188 19812188 G A SNP TMEM196 ENST00000405764 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 10 6 37.50 35 0 0.00 TMEM198B 440104 genome.wustl.edu 37 12 56224610 56224610 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56224610 56224610 C G SNP TMEM198B ENST00000478241 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors TMEM198B HGNC ENSG00000182796 17 9 34.62 50 0 0.00 TMEM198B 440104 genome.wustl.edu 37 12 56226768 56226768 + RNA SNP G G A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 56226768 56226768 G A SNP TMEM198B ENST00000471276 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM198B HGNC ENSG00000182796 23 21 47.73 39 0 0.00 TMEM198B 440104 genome.wustl.edu 37 12 56227056 56227056 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56227056 56227056 G A SNP TMEM198B ENST00000482378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM198B HGNC ENSG00000182796 28 17 37.78 50 0 0.00 TMEM2 23670 genome.wustl.edu 37 9 74327133 74327133 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74327133 74327133 G A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.2635 p.H879Y 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 53 40 43.01 66 0 0.00 TMEM2 23670 genome.wustl.edu 37 9 74360096 74360096 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 74360096 74360096 C T SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.872 p.R291H 0.995 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 49 10 16.67 68 0 0.00 TMEM2 23670 genome.wustl.edu 37 9 74361180 74361180 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74361180 74361180 C A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known nonsense c.409 p.E137* 1.000 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 60 20 25.00 46 0 0.00 TMEM2 23670 genome.wustl.edu 37 9 74365015 74365015 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 74365015 74365015 G A SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.275 p.S92L 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 90 30 25.00 80 0 0.00 TMEM200A 114801 genome.wustl.edu 37 6 130762478 130762478 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 130762478 130762478 G A SNP TMEM200A ENST00000296978 human ensembl 70_37 +1 known missense c.911 p.S304N 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 48 19 28.36 64 0 0.00 TMEM200C 645369 genome.wustl.edu 37 18 5891520 5891520 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 5891520 5891520 G A SNP TMEM200C ENST00000383490 human ensembl 70_37 -1 known silent c.543 p.I181 0.999 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 21 9 29.03 24 0 0.00 TMEM200C 645369 genome.wustl.edu 37 18 5891558 5891558 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 5891558 5891558 C T SNP TMEM200C ENST00000383490 human ensembl 70_37 -1 known missense c.505 p.G169R 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 24 8 25.00 24 0 0.00 TMEM202 338949 genome.wustl.edu 37 15 72698977 72698977 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 72698977 72698977 C A SNP TMEM202 ENST00000568167 human ensembl 70_37 +1 known missense c.116 p.S39Y 1.000 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 25 4 13.79 29 0 0.00 TMEM202 338949 genome.wustl.edu 37 15 72699036 72699036 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72699036 72699036 G A SNP TMEM202 ENST00000341689 human ensembl 70_37 +1 known missense c.431 p.R144Q 0.000 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 129 34 20.86 185 0 0.00 TMEM202 338949 genome.wustl.edu 37 15 72700113 72700113 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72700113 72700113 C G SNP TMEM202 ENST00000341689 human ensembl 70_37 +1 known nonsense c.701 p.S234* 0.210 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 22 25 53.19 80 0 0.00 TMEM203 94107 genome.wustl.edu 37 9 140099705 140099705 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 140099705 140099705 G A SNP TMEM203 ENST00000343666 human ensembl 70_37 -1 known silent c.162 p.F54 1.000 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM203 HGNC ENSG00000187713 36 21 36.21 56 0 0.00 TMEM204 79652 genome.wustl.edu 37 16 1591971 1591971 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 1591971 1591971 C A SNP TMEM204 ENST00000253934 human ensembl 70_37 +1 known silent c.330 p.L110 0.151 NULL NULL - no_errors TMEM204 HGNC ENSG00000131634 61 18 22.78 92 0 0.00 TMEM207 131920 genome.wustl.edu 37 3 190147473 190147473 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 190147473 190147473 G T SNP TMEM207 ENST00000354905 human ensembl 70_37 -1 known missense c.352 p.Q118K 0.014 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 25 13 34.21 21 0 0.00 TMEM207 131920 genome.wustl.edu 37 3 190147473 190147473 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 190147473 190147473 G T SNP TMEM207 ENST00000354905 human ensembl 70_37 -1 known missense c.352 p.Q118K 0.014 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 72 17 19.10 75 0 0.00 TMEM209 84928 genome.wustl.edu 37 7 129815407 129815407 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 129815407 129815407 C T SNP TMEM209 ENST00000397622 human ensembl 70_37 -1 known missense c.1289 p.R430K 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 17 6 26.09 35 0 0.00 TMEM209 84928 genome.wustl.edu 37 7 129821478 129821478 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 129821478 129821478 C G SNP TMEM209 ENST00000397622 human ensembl 70_37 -1 known missense c.1105 p.E369Q 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 19 10 34.48 33 0 0.00 TMEM209 84928 genome.wustl.edu 37 7 129832592 129832592 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 129832592 129832592 C G SNP TMEM209 ENST00000397622 human ensembl 70_37 -1 known missense c.645 p.L215F 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 83 17 17.00 83 0 0.00 TMEM211 255349 genome.wustl.edu 37 22 25331426 25331426 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 25331426 25331426 G C SNP TMEM211 ENST00000423535 human ensembl 70_37 -1 known silent c.477 p.L159 0.528 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM211 HGNC ENSG00000206069 26 17 39.53 37 0 0.00 TMEM213 155006 genome.wustl.edu 37 7 138482803 138482803 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 138482803 138482803 C T SNP TMEM213 ENST00000422794 human ensembl 70_37 +1 known missense c.107 p.S36F 0.000 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 40 25 38.46 57 0 0.00 TMEM214 54867 genome.wustl.edu 37 2 27260521 27260521 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27260521 27260521 C G SNP TMEM214 ENST00000238788 human ensembl 70_37 +1 known missense c.1103 p.S368C 1.000 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 84 30 26.32 69 0 0.00 TMEM217 221468 genome.wustl.edu 37 6 37180457 37180457 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 37180457 37180457 C T SNP TMEM217 ENST00000478262 human ensembl 70_37 -1 known rna NULL NULL 0.780 - - - no_errors TMEM217 HGNC ENSG00000172738 29 19 39.58 77 0 0.00 TMEM223 79064 genome.wustl.edu 37 11 62558226 62558226 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 62558226 62558226 G A SNP TMEM223 ENST00000307366 human ensembl 70_37 -1 known missense c.478 p.R160W 1.000 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 25 14 35.90 38 0 0.00 TMEM225 338661 genome.wustl.edu 37 11 123755273 123755273 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 123755273 123755273 C T SNP TMEM225 ENST00000375026 human ensembl 70_37 -1 known silent c.252 p.L84 0.474 NULL NULL - no_errors TMEM225 HGNC ENSG00000204300 29 9 23.68 55 0 0.00 TMEM225 338661 genome.wustl.edu 37 11 123756083 123756083 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 123756083 123756083 G A SNP TMEM225 ENST00000375026 human ensembl 70_37 -1 known missense c.50 p.S17F 0.651 NULL NULL - no_errors TMEM225 HGNC ENSG00000204300 31 24 43.64 19 0 0.00 TMEM229A 730130 genome.wustl.edu 37 7 123672195 123672195 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123672195 123672195 C G SNP TMEM229A ENST00000455783 human ensembl 70_37 -1 known missense c.863 p.S288T 1.000 NULL NULL - no_errors TMEM229A HGNC ENSG00000234224 30 16 34.78 56 0 0.00 TMEM232 642987 genome.wustl.edu 37 5 109760531 109760531 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 109760531 109760531 T G SNP TMEM232 ENST00000455884 human ensembl 70_37 -1 novel missense c.1790 p.D597A 0.997 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 15 9 37.50 30 0 0.00 TMEM233 387890 genome.wustl.edu 37 12 120031686 120031686 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 120031686 120031686 G T SNP TMEM233 ENST00000426426 human ensembl 70_37 +1 known missense c.33 p.K11N 0.998 NULL pfam_Interferon-induced_TM_protein - no_errors TMEM233 HGNC ENSG00000224982 30 4 11.76 40 0 0.00 TMEM233 387890 genome.wustl.edu 37 12 120067563 120067563 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 120067563 120067563 G C SNP TMEM233 ENST00000426426 human ensembl 70_37 +1 known missense c.209 p.G70A 0.995 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors TMEM233 HGNC ENSG00000224982 25 16 39.02 52 0 0.00 TMEM234 56063 genome.wustl.edu 37 1 32686761 32686761 + Missense_Mutation SNP A A C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 32686761 32686761 A C SNP TMEM234 ENST00000461402 human ensembl 70_37 -1 known missense c.206 p.L69R 1.000 pfam_UPF0546 pfam_UPF0546 - no_errors TMEM234 HGNC ENSG00000160055 26 7 21.21 33 0 0.00 TMEM235 283999 genome.wustl.edu 37 17 76227940 76227940 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 17 76227940 76227940 G A SNP TMEM235 ENST00000421688 human ensembl 70_37 +1 known missense c.386 p.G129E 0.008 NULL NULL - no_errors TMEM235 HGNC ENSG00000204278 7 8 53.33 34 0 0.00 TMEM235 283999 genome.wustl.edu 37 17 76235162 76235162 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 76235162 76235162 C T SNP TMEM235 ENST00000551068 human ensembl 70_37 +1 known missense c.467 p.A156V 0.018 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors TMEM235 HGNC ENSG00000204278 148 21 12.43 202 1 0.49 TMEM237 65062 genome.wustl.edu 37 2 202492840 202492840 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202492840 202492840 C T SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.902 p.R301Q 1.000 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 10 10 50.00 36 0 0.00 TMEM237 65062 genome.wustl.edu 37 2 202494551 202494551 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 202494551 202494551 G A SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.578 p.S193L 0.230 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 36 26 41.94 66 0 0.00 TMEM237 65062 genome.wustl.edu 37 2 202501582 202501582 + Missense_Mutation SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 2 202501582 202501582 G C SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.163 p.Q55E 0.627 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 13 3 18.75 27 0 0.00 TMEM241 85019 genome.wustl.edu 37 18 20878009 20878009 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 20878009 20878009 C G SNP TMEM241 ENST00000383233 human ensembl 70_37 -1 known missense c.853 p.E285Q 1.000 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 12 8 40.00 20 0 0.00 TMEM246 84302 genome.wustl.edu 37 9 104238223 104238223 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 104238223 104238223 G A SNP TMEM246 ENST00000374847 human ensembl 70_37 -1 known silent c.1152 p.L384 0.322 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 49 12 19.67 53 0 0.00 TMEM246 84302 genome.wustl.edu 37 9 104238925 104238925 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 104238925 104238925 C T SNP TMEM246 ENST00000374847 human ensembl 70_37 -1 known silent c.450 p.V150 0.992 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 42 30 41.67 63 0 0.00 TMEM248 55069 genome.wustl.edu 37 7 66406858 66406858 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 66406858 66406858 C T SNP TMEM248 ENST00000341567 human ensembl 70_37 +1 known silent c.6 p.F2 0.052 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 12 23 65.71 26 0 0.00 TMEM25 84866 genome.wustl.edu 37 11 118406231 118406231 + Missense_Mutation SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 118406231 118406231 C T SNP TMEM25 ENST00000533102 human ensembl 70_37 +1 known missense c.1033 p.L345F 0.000 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors TMEM25 HGNC ENSG00000149582 53 40 43.01 66 0 0.00 TMEM252 169693 genome.wustl.edu 37 9 71152191 71152191 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 71152191 71152191 C G SNP TMEM252 ENST00000377311 human ensembl 70_37 -1 known missense c.497 p.R166P 0.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 40 18 31.03 29 0 0.00 TMEM252 169693 genome.wustl.edu 37 9 71155719 71155719 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 71155719 71155719 T G SNP TMEM252 ENST00000377311 human ensembl 70_37 -1 known missense c.12 p.R4S 0.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 10 5 33.33 21 0 0.00 TMEM254 80195 genome.wustl.edu 37 10 81838408 81838408 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 81838408 81838408 C G SNP TMEM254 ENST00000472622 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM254 HGNC ENSG00000133678 36 9 20.00 83 0 0.00 TMEM254 80195 genome.wustl.edu 37 10 81841421 81841422 + RNA INS - - AA TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 81841421 81841422 - AA INS TMEM254 ENST00000463029 human ensembl 70_37 +1 known rna NULL NULL 0.039:0.038 - - - no_errors TMEM254 HGNC ENSG00000133678 34 4 10.53 31 0 0.00 TMEM254 80195 genome.wustl.edu 37 10 81841429 81841432 + RNA DEL AAAG AAAG - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 10 81841429 81841432 AAAG - DEL TMEM254 ENST00000463029 human ensembl 70_37 +1 known rna NULL NULL 0.019:0.020:0.019:0.021 - - - no_errors TMEM254 HGNC ENSG00000133678 6 3 33.33 13 0 0.00 TMEM254 80195 genome.wustl.edu 37 10 81850650 81850650 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 81850650 81850650 C T SNP TMEM254 ENST00000372281 human ensembl 70_37 +1 known missense c.349 p.R117W 0.354 NULL NULL - no_errors TMEM254 HGNC ENSG00000133678 155 25 13.89 227 0 0.00 TMEM254 80195 genome.wustl.edu 37 10 81850650 81850650 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 10 81850650 81850650 C T SNP TMEM254 ENST00000372281 human ensembl 70_37 +1 known missense c.349 p.R117W 0.354 NULL NULL - no_errors TMEM254 HGNC ENSG00000133678 36 12 25.00 28 0 0.00 TMEM254-AS1 219347 genome.wustl.edu 37 10 81838622 81838622 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 81838622 81838622 G A SNP TMEM254-AS1 ENST00000412298 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM254-AS1 HGNC ENSG00000230091 61 17 21.79 64 0 0.00 TMEM30A 55754 genome.wustl.edu 37 6 75974970 75974970 + Missense_Mutation SNP T T A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 75974970 75974970 T A SNP TMEM30A ENST00000230461 human ensembl 70_37 -1 known missense c.430 p.N144Y 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 53 15 22.06 27 0 0.00 TMEM30A 55754 genome.wustl.edu 37 6 75975015 75975015 + Nonsense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 75975015 75975015 G A SNP TMEM30A ENST00000230461 human ensembl 70_37 -1 known nonsense c.385 p.Q129* 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 69 17 19.77 93 0 0.00 TMEM30B 161291 genome.wustl.edu 37 14 61747570 61747570 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 61747570 61747570 G A SNP TMEM30B ENST00000355702 human ensembl 70_37 -1 known missense c.296 p.S99L 0.999 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 32 7 17.95 39 0 0.00 TMEM30B 161291 genome.wustl.edu 37 14 61747694 61747694 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 61747694 61747694 T C SNP TMEM30B ENST00000355702 human ensembl 70_37 -1 known missense c.172 p.N58D 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 17 8 32.00 36 0 0.00 TMEM30B 161291 genome.wustl.edu 37 14 61748261 61748261 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 61748261 61748261 G A SNP TMEM30B ENST00000554497 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors TMEM30B HGNC ENSG00000182107 22 10 31.25 33 0 0.00 TMEM35 59353 genome.wustl.edu 37 X 100334062 100334062 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 100334062 100334062 G C SNP TMEM35 ENST00000372930 human ensembl 70_37 +1 known missense c.71 p.G24A 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 50 13 20.63 117 0 0.00 TMEM37 140738 genome.wustl.edu 37 2 120194804 120194804 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 120194804 120194804 C G SNP TMEM37 ENST00000306406 human ensembl 70_37 +1 known missense c.361 p.Q121E 0.012 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 41 21 33.87 71 0 0.00 TMEM38A 79041 genome.wustl.edu 37 19 16790905 16790905 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 16790905 16790905 G T SNP TMEM38A ENST00000187762 human ensembl 70_37 +1 known missense c.235 p.D79Y 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 8 3 27.27 21 0 0.00 TMEM38B 55151 genome.wustl.edu 37 9 108510422 108510422 + Nonsense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 108510422 108510422 C G SNP TMEM38B ENST00000374692 human ensembl 70_37 +1 known nonsense c.611 p.S204* 0.998 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 34 7 17.07 69 0 0.00 TMEM38B 55151 genome.wustl.edu 37 9 108510422 108510422 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 108510422 108510422 C G SNP TMEM38B ENST00000374692 human ensembl 70_37 +1 known nonsense c.611 p.S204* 0.998 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 17 4 19.05 52 0 0.00 TMEM39A 55254 genome.wustl.edu 37 3 119150996 119150996 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 119150996 119150996 G A SNP TMEM39A ENST00000319172 human ensembl 70_37 -1 known silent c.1299 p.F433 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 70 8 10.26 41 0 0.00 TMEM39B 55116 genome.wustl.edu 37 1 32540602 32540602 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 32540602 32540602 G T SNP TMEM39B ENST00000336294 human ensembl 70_37 +1 known nonsense c.55 p.E19* 1.000 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 19 19 50.00 38 0 0.00 TMEM39B 55116 genome.wustl.edu 37 1 32541383 32541383 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 32541383 32541383 G T SNP TMEM39B ENST00000336294 human ensembl 70_37 +1 known missense c.311 p.W104L 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 32 4 11.11 41 0 0.00 TMEM39B 55116 genome.wustl.edu 37 1 32568452 32568452 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32568452 32568452 T G SNP TMEM39B ENST00000468135 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM39B HGNC ENSG00000121775 44 5 10.20 49 0 0.00 TMEM40 55287 genome.wustl.edu 37 3 12776201 12776201 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 12776201 12776201 G T SNP TMEM40 ENST00000476331 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM40 HGNC ENSG00000088726 41 5 10.87 34 0 0.00 TMEM41B 440026 genome.wustl.edu 37 11 9335975 9335975 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 9335975 9335975 C G SNP TMEM41B ENST00000299596 human ensembl 70_37 -1 known missense c.14 p.R5T 0.993 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 18 19 51.35 66 0 0.00 TMEM42 131616 genome.wustl.edu 37 3 44905835 44905835 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 44905835 44905835 G A SNP TMEM42 ENST00000302392 human ensembl 70_37 +1 known silent c.339 p.S113 1.000 NULL NULL - no_errors TMEM42 HGNC ENSG00000169964 40 28 41.18 72 0 0.00 TMEM43 79188 genome.wustl.edu 37 3 14170936 14170936 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170936 14170936 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known missense c.37 p.E13K 0.995 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 35 22 38.60 115 0 0.00 TMEM43 79188 genome.wustl.edu 37 3 14170986 14170986 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170986 14170986 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known silent c.87 p.L29 1.000 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 35 21 37.50 104 0 0.00 TMEM43 79188 genome.wustl.edu 37 3 14170992 14170992 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170992 14170992 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known silent c.93 p.E31 1.000 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 32 21 39.62 104 0 0.00 TMEM43 79188 genome.wustl.edu 37 3 14172355 14172355 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 14172355 14172355 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known missense c.196 p.E66K 0.996 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 15 9 37.50 13 0 0.00 TMEM44 93109 genome.wustl.edu 37 3 194331718 194331718 + Nonsense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 3 194331718 194331718 G C SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known nonsense c.1085 p.S362* 0.069 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 76 12 13.64 76 0 0.00 TMEM44 93109 genome.wustl.edu 37 3 194337995 194337995 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 194337995 194337995 G A SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known missense c.757 p.R253W 0.923 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 83 14 14.43 63 0 0.00 TMEM44 93109 genome.wustl.edu 37 3 194344315 194344315 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 194344315 194344315 C T SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known silent c.468 p.P156 0.000 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 96 23 19.17 30 0 0.00 TMEM45A 55076 genome.wustl.edu 37 3 100277259 100277259 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 100277259 100277259 C G SNP TMEM45A ENST00000323523 human ensembl 70_37 +1 known missense c.414 p.F138L 1.000 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC ENSG00000181458 85 17 16.67 72 0 0.00 TMEM45A 55076 genome.wustl.edu 37 3 100295885 100295885 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 100295885 100295885 C G SNP TMEM45A ENST00000488904 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors TMEM45A HGNC ENSG00000181458 16 5 23.81 15 0 0.00 TMEM47 83604 genome.wustl.edu 37 X 34657409 34657409 + Nonsense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 34657409 34657409 G A SNP TMEM47 ENST00000275954 human ensembl 70_37 -1 known nonsense c.322 p.R108* 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 17 8 32.00 23 0 0.00 TMEM47 83604 genome.wustl.edu 37 X 34657409 34657409 + Nonsense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 34657409 34657409 G A SNP TMEM47 ENST00000275954 human ensembl 70_37 -1 known nonsense c.322 p.R108* 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 27 17 38.64 29 0 0.00 NDC1 55706 genome.wustl.edu 37 1 54262395 54262395 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54262395 54262395 C G SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known silent c.1551 p.V517 0.000 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC ENSG00000058804 42 16 27.59 44 0 0.00 NDC1 55706 genome.wustl.edu 37 1 54262801 54262801 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54262801 54262801 C T SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known silent c.1239 p.Q413 0.698 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC ENSG00000058804 41 24 36.92 43 0 0.00 NDC1 55706 genome.wustl.edu 37 1 54269617 54269617 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54269617 54269617 G C SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known missense c.1050 p.F350L 0.991 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC ENSG00000058804 61 22 26.51 67 0 0.00 NDC1 55706 genome.wustl.edu 37 1 54273423 54273423 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 54273423 54273423 T G SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known missense c.797 p.N266T 0.956 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC ENSG00000058804 13 7 35.00 23 0 0.00 TMEM5 10329 genome.wustl.edu 37 12 64174868 64174868 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 64174868 64174868 G A SNP TMEM5 ENST00000261234 human ensembl 70_37 +1 known missense c.239 p.R80K 0.998 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 14 7 33.33 18 0 0.00 TMEM50A 23585 genome.wustl.edu 37 1 25669500 25669500 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25669500 25669500 A C SNP TMEM50A ENST00000374358 human ensembl 70_37 +1 known missense c.142 p.T48P 0.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50A HGNC ENSG00000183726 22 8 26.67 74 0 0.00 TMEM50B 757 genome.wustl.edu 37 21 34828327 34828327 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 34828327 34828327 C G SNP TMEM50B ENST00000442441 human ensembl 70_37 -1 known missense c.451 p.D151H 0.001 NULL pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 33 11 24.44 38 0 0.00 TMEM50B 757 genome.wustl.edu 37 21 34841094 34841094 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 34841094 34841094 C T SNP TMEM50B ENST00000420455 human ensembl 70_37 -1 known silent c.99 p.L33 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 30 4 11.76 43 0 0.00 TMEM51 55092 genome.wustl.edu 37 1 15541866 15541866 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 15541866 15541866 G A SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.283 p.E95K 0.981 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 19 13 40.62 34 0 0.00 TMEM51 55092 genome.wustl.edu 37 1 15541908 15541908 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 15541908 15541908 C G SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.325 p.H109D 0.002 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 21 12 35.29 37 0 0.00 TMEM51 55092 genome.wustl.edu 37 1 15545935 15545935 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 15545935 15545935 G C SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.458 p.R153T 0.527 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 52 22 29.73 55 0 0.00 TMEM51 55092 genome.wustl.edu 37 1 15546027 15546027 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 15546027 15546027 G A SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.550 p.G184R 0.906 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 105 25 19.23 161 0 0.00 TMEM52 339456 genome.wustl.edu 37 1 1849465 1849465 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 1849465 1849465 C G SNP TMEM52 ENST00000310991 human ensembl 70_37 -1 known missense c.486 p.K162N 0.972 NULL NULL - no_errors TMEM52 HGNC ENSG00000178821 47 26 35.62 71 0 0.00 TMEM52B 120939 genome.wustl.edu 37 12 10339160 10339160 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 10339160 10339160 C T SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known silent c.279 p.H93 0.903 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 39 5 11.36 43 0 0.00 TMEM52B 120939 genome.wustl.edu 37 12 10339184 10339184 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 10339184 10339184 C G SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known missense c.303 p.I101M 0.971 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 18 8 30.77 22 0 0.00 TMEM52B 120939 genome.wustl.edu 37 12 10342532 10342532 + Silent SNP C C A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 10342532 10342532 C A SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known silent c.345 p.I115 1.000 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 8 16 66.67 29 0 0.00 TMEM53 79639 genome.wustl.edu 37 1 45120220 45120220 + RNA SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 45120220 45120220 G C SNP TMEM53 ENST00000468117 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TMEM53 HGNC ENSG00000126106 63 32 33.68 151 0 0.00 TMEM54 113452 genome.wustl.edu 37 1 33360407 33360407 + Nonstop_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 33360407 33360407 C G SNP TMEM54 ENST00000373463 human ensembl 70_37 -1 known nonstop c.668 p.*223S 0.997 NULL pfam_Beta-casein-like - no_errors TMEM54 HGNC ENSG00000121900 19 7 25.93 24 0 0.00 TMEM54 113452 genome.wustl.edu 37 1 33360939 33360939 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 33360939 33360939 C G SNP TMEM54 ENST00000373463 human ensembl 70_37 -1 known silent c.561 p.L187 1.000 pfam_Beta-casein-like pfam_Beta-casein-like - no_errors TMEM54 HGNC ENSG00000121900 16 10 38.46 39 0 0.00 TMEM55A 55529 genome.wustl.edu 37 8 92008002 92008002 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92008002 92008002 G T SNP TMEM55A ENST00000285419 human ensembl 70_37 -1 known missense c.677 p.S226Y 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 10 12 54.55 20 0 0.00 TMEM55A 55529 genome.wustl.edu 37 8 92020971 92020972 + Frame_Shift_Ins INS - - T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 92020971 92020972 - T INS TMEM55A ENST00000285419 human ensembl 70_37 -1 known frame_shift_ins c.539_538 p.I180fs 1.000:1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 62 24 27.91 97 0 0.00 TMEM55B 90809 genome.wustl.edu 37 14 20927568 20927568 + Missense_Mutation SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 14 20927568 20927568 C A SNP TMEM55B ENST00000398020 human ensembl 70_37 -1 known missense c.599 p.R200L 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 27 10 27.03 44 0 0.00 TMEM57 55219 genome.wustl.edu 37 1 25783176 25783176 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 25783176 25783176 G T SNP TMEM57 ENST00000374343 human ensembl 70_37 +1 known missense c.506 p.G169V 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 29 7 19.44 43 0 0.00 TMEM57 55219 genome.wustl.edu 37 1 25812143 25812143 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 25812143 25812143 G C SNP TMEM57 ENST00000374343 human ensembl 70_37 +1 known missense c.1353 p.Q451H 1.000 pfam_Macoilin,superfamily_Prefoldin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 21 11 34.38 16 0 0.00 TMEM59 9528 genome.wustl.edu 37 1 54497852 54497852 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 54497852 54497852 T G SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known missense c.943 p.K315Q 1.000 NULL pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 17 4 19.05 35 0 0.00 TMEM59 9528 genome.wustl.edu 37 1 54497885 54497885 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 54497885 54497885 C T SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known missense c.910 p.E304K 1.000 NULL pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 70 17 19.54 66 0 0.00 TMEM59 9528 genome.wustl.edu 37 1 54509139 54509139 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 54509139 54509139 G A SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known silent c.450 p.F150 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 39 18 31.58 50 0 0.00 TMEM59L 25789 genome.wustl.edu 37 19 18724918 18724918 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 18724918 18724918 C T SNP TMEM59L ENST00000262817 human ensembl 70_37 +1 known silent c.321 p.C107 0.596 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 24 8 24.24 23 0 0.00 TMEM60 85025 genome.wustl.edu 37 7 77423294 77423294 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 77423294 77423294 C G SNP TMEM60 ENST00000257663 human ensembl 70_37 -1 known missense c.397 p.D133H 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 51 9 15.00 67 0 0.00 TMEM60 85025 genome.wustl.edu 37 7 77423670 77423670 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 77423670 77423670 C G SNP TMEM60 ENST00000257663 human ensembl 70_37 -1 known missense c.21 p.Q7H 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 23 5 17.86 58 0 0.00 TMEM61 199964 genome.wustl.edu 37 1 55451823 55451823 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 55451823 55451823 C A SNP TMEM61 ENST00000371268 human ensembl 70_37 +1 known missense c.69 p.S23R 0.265 NULL NULL - no_errors TMEM61 HGNC ENSG00000143001 46 18 28.12 48 0 0.00 TMEM63A 9725 genome.wustl.edu 37 1 226041492 226041492 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226041492 226041492 C A SNP TMEM63A ENST00000366835 human ensembl 70_37 -1 known missense c.1635 p.E545D 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 33 4 10.81 24 0 0.00 TMEM63A 9725 genome.wustl.edu 37 1 226047210 226047210 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 226047210 226047210 G A SNP TMEM63A ENST00000487971 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors TMEM63A HGNC ENSG00000196187 4 9 69.23 9 0 0.00 TMEM63A 9725 genome.wustl.edu 37 1 226054373 226054373 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 226054373 226054373 G A SNP TMEM63A ENST00000366835 human ensembl 70_37 -1 known silent c.576 p.L192 0.589 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 52 7 11.86 37 0 0.00 TMEM63A 9725 genome.wustl.edu 37 1 226065245 226065245 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 226065245 226065245 G T SNP TMEM63A ENST00000366835 human ensembl 70_37 -1 known silent c.36 p.S12 0.004 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 25 4 13.79 45 0 0.00 TMEM63B 55362 genome.wustl.edu 37 6 44102397 44102397 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 44102397 44102397 G T SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.76 p.A26S 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 22 4 14.81 46 0 0.00 TMEM63B 55362 genome.wustl.edu 37 6 44107469 44107469 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 44107469 44107469 G C SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.575 p.R192T 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 42 8 16.00 57 0 0.00 TMEM63B 55362 genome.wustl.edu 37 6 44116106 44116106 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 44116106 44116106 G A SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.1105 p.E369K 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 27 11 28.95 35 0 0.00 TMEM63B 55362 genome.wustl.edu 37 6 44116376 44116376 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 44116376 44116376 G C SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.1248 p.Q416H 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 38 9 19.15 48 0 0.00 TMEM63B 55362 genome.wustl.edu 37 6 44120421 44120421 + Missense_Mutation SNP T T C TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 6 44120421 44120421 T C SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.1928 p.I643T 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 22 3 12.00 36 0 0.00 TMEM63C 57156 genome.wustl.edu 37 14 77686352 77686352 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 77686352 77686352 G C SNP TMEM63C ENST00000298351 human ensembl 70_37 +1 known silent c.234 p.L78 1.000 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 35 20 36.36 60 0 0.00 TMEM63C 57156 genome.wustl.edu 37 14 77712334 77712334 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 77712334 77712334 C T SNP TMEM63C ENST00000298351 human ensembl 70_37 +1 known silent c.1500 p.F500 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 71 19 21.11 95 0 0.00 TMEM63C 57156 genome.wustl.edu 37 14 77715708 77715708 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77715708 77715708 A G SNP TMEM63C ENST00000298351 human ensembl 70_37 +1 known missense c.1945 p.N649D 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 30 23 43.40 77 0 0.00 TMEM66 51669 genome.wustl.edu 37 8 29924375 29924375 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 29924375 29924375 G A SNP TMEM66 ENST00000256255 human ensembl 70_37 -1 known nonsense c.760 p.Q254* 0.145 pfam_DUF1183_TMEM66 pfam_DUF1183_TMEM66 - no_errors TMEM66 HGNC ENSG00000133872 7 5 41.67 21 0 0.00 TMEM70 54968 genome.wustl.edu 37 8 74888116 74888117 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 74888116 74888117 - A INS TMEM70 ENST00000520167 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors TMEM70 HGNC ENSG00000175606 42 5 10.64 35 0 0.00 TMEM70 54968 genome.wustl.edu 37 8 74893836 74893836 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 8 74893836 74893836 C T SNP TMEM70 ENST00000312184 human ensembl 70_37 +1 known missense c.763 p.R255W 0.764 NULL pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 7 3 30.00 16 0 0.00 TMEM72 643236 genome.wustl.edu 37 10 45430487 45430487 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 45430487 45430487 G C SNP TMEM72 ENST00000544540 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 13 11 45.83 23 0 0.00 TMEM74 157753 genome.wustl.edu 37 8 109796644 109796644 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 109796644 109796644 C T SNP TMEM74 ENST00000297459 human ensembl 70_37 -1 known silent c.684 p.L228 1.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 67 12 15.19 37 0 0.00 TMEM74 157753 genome.wustl.edu 37 8 109797062 109797062 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 109797062 109797062 C T SNP TMEM74 ENST00000297459 human ensembl 70_37 -1 known missense c.266 p.G89E 0.776 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 51 22 30.14 87 0 0.00 TMEM74B 55321 genome.wustl.edu 37 20 1161978 1161978 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 1161978 1161978 G A SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.285 p.P95 0.851 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 25 9 26.47 43 0 0.00 TMEM74B 55321 genome.wustl.edu 37 20 1161999 1161999 + Silent SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 1161999 1161999 A T SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.264 p.P88 0.000 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 29 18 38.30 47 0 0.00 TMEM74B 55321 genome.wustl.edu 37 20 1162032 1162032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 1162032 1162032 C T SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.231 p.G77 0.000 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 32 27 45.76 44 0 0.00 TMEM79 84283 genome.wustl.edu 37 1 156261440 156261440 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 156261440 156261440 C G SNP TMEM79 ENST00000357501 human ensembl 70_37 +1 known missense c.520 p.H174D 0.000 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 111 15 11.81 82 0 0.00 TMEM80 283232 genome.wustl.edu 37 11 695769 695769 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 695769 695769 G A SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known missense c.17 p.R6Q 0.009 NULL pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 2 4 66.67 14 0 0.00 TMEM80 283232 genome.wustl.edu 37 11 695769 695769 + Missense_Mutation SNP G G C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 11 695769 695769 G C SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known missense c.17 p.R6P 0.009 NULL pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 6 4 40.00 9 0 0.00 TMEM80 283232 genome.wustl.edu 37 11 700746 700746 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 700746 700746 G C SNP TMEM80 ENST00000488769 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM80 HGNC ENSG00000177042 48 48 50.00 76 0 0.00 TMEM80 283232 genome.wustl.edu 37 11 703087 703087 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 703087 703087 C T SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known silent c.444 p.L148 0.152 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 25 10 28.57 51 0 0.00 TMEM81 388730 genome.wustl.edu 37 1 205052803 205052803 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 205052803 205052803 G A SNP TMEM81 ENST00000367167 human ensembl 70_37 -1 known missense c.646 p.H216Y 0.000 NULL pfscan_Ig-like - no_errors TMEM81 HGNC ENSG00000174529 34 15 30.61 35 0 0.00 TMEM82 388595 genome.wustl.edu 37 1 16074126 16074126 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 16074126 16074126 G A SNP TMEM82 ENST00000375782 human ensembl 70_37 +1 known silent c.1031 p.*344 0.972 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 29 18 38.30 42 0 0.00 TMEM87A 25963 genome.wustl.edu 37 15 42531874 42531874 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42531874 42531874 C T SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known silent c.678 p.L226 0.996 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 33 13 28.26 37 0 0.00 TMEM87A 25963 genome.wustl.edu 37 15 42531888 42531888 + Nonsense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42531888 42531888 C A SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known nonsense c.664 p.E222* 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 30 15 33.33 34 0 0.00 TMEM87A 25963 genome.wustl.edu 37 15 42553440 42553440 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42553440 42553440 G A SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known missense c.413 p.S138F 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 26 12 31.58 32 0 0.00 TMEM87A 25963 genome.wustl.edu 37 15 42556300 42556300 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42556300 42556300 G C SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 52 14 21.21 59 0 0.00 TMEM87A 25963 genome.wustl.edu 37 15 42556395 42556395 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42556395 42556395 C T SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known missense c.298 p.E100K 0.989 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 31 18 36.73 45 0 0.00 TMEM87B 84910 genome.wustl.edu 37 2 112832536 112832538 + In_Frame_Del DEL AAT AAT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 112832536 112832538 AAT - DEL TMEM87B ENST00000283206 human ensembl 70_37 +1 known in_frame_del c.498_500 p.M167in_frame_del 0.197:0.117:0.110 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 53 10 15.87 78 0 0.00 TMEM87B 84910 genome.wustl.edu 37 2 112843658 112843658 + Silent SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 112843658 112843658 G T SNP TMEM87B ENST00000283206 human ensembl 70_37 +1 known silent c.915 p.V305 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 36 4 10.00 30 0 0.00 TMEM87B 84910 genome.wustl.edu 37 2 112873753 112873753 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 112873753 112873753 G A SNP TMEM87B ENST00000471632 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM87B HGNC ENSG00000153214 27 5 15.62 45 0 0.00 TMEM8A 58986 genome.wustl.edu 37 16 422230 422230 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 422230 422230 C A SNP TMEM8A ENST00000431232 human ensembl 70_37 -1 known missense c.2073 p.W691C 1.000 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 15 11 42.31 39 0 0.00 TMEM8A 58986 genome.wustl.edu 37 16 424225 424225 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 424225 424225 G A SNP TMEM8A ENST00000431232 human ensembl 70_37 -1 known missense c.1751 p.S584F 1.000 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 44 23 34.33 81 0 0.00 TMEM8B 51754 genome.wustl.edu 37 9 35846020 35846020 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 35846020 35846020 G A SNP TMEM8B ENST00000377988 human ensembl 70_37 +1 known missense c.328 p.E110K 1.000 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 40 23 36.51 79 0 0.00 TMEM8C 389827 genome.wustl.edu 37 9 136385318 136385318 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 136385318 136385318 C G SNP TMEM8C ENST00000339996 human ensembl 70_37 -1 known silent c.228 p.L76 0.998 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 39 14 26.42 56 0 0.00 TMEM8C 389827 genome.wustl.edu 37 9 136385318 136385318 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 136385318 136385318 C G SNP TMEM8C ENST00000339996 human ensembl 70_37 -1 known silent c.228 p.L76 0.998 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 55 7 11.29 51 0 0.00 TMEM92 162461 genome.wustl.edu 37 17 48355920 48355920 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 48355920 48355920 C G SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known silent c.99 p.A33 0.682 NULL NULL - no_errors TMEM92 HGNC ENSG00000167105 42 20 32.26 51 0 0.00 TMEM92 162461 genome.wustl.edu 37 17 48356300 48356300 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356300 48356300 C T SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known silent c.309 p.I103 0.000 NULL NULL - no_errors TMEM92 HGNC ENSG00000167105 59 11 15.71 48 0 0.00 TMEM92 162461 genome.wustl.edu 37 17 48356377 48356377 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356377 48356377 C G SNP TMEM92 ENST00000511882 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM92 HGNC ENSG00000167105 54 9 14.29 43 0 0.00 TMEM92 162461 genome.wustl.edu 37 17 48356666 48356666 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356666 48356666 C G SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known missense c.477 p.F159L 1.000 NULL NULL - no_errors TMEM92 HGNC ENSG00000167105 38 9 19.15 37 0 0.00 TMEM98 26022 genome.wustl.edu 37 17 31260256 31260256 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 31260256 31260256 G A SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known missense c.196 p.D66N 1.000 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 34 13 27.66 78 0 0.00 TMEM98 26022 genome.wustl.edu 37 17 31260324 31260324 + Splice_Site SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 31260324 31260324 G A SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known splice_site c.263+1 e2+1 1.000 - - - no_errors TMEM98 HGNC ENSG00000006042 47 17 26.56 38 0 0.00 TMEM98 26022 genome.wustl.edu 37 17 31267987 31267987 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 31267987 31267987 C T SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known silent c.657 p.F219 1.000 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 40 24 37.50 40 0 0.00 TMEM99 147184 genome.wustl.edu 37 17 38990881 38990881 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 17 38990881 38990881 C T SNP TMEM99 ENST00000301665 human ensembl 70_37 +1 known missense c.113 p.S38L 0.198 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 50 20 28.57 73 0 0.00 TMEM9B 56674 genome.wustl.edu 37 11 8969995 8969995 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8969995 8969995 C T SNP TMEM9B ENST00000534025 human ensembl 70_37 -1 known missense c.469 p.D157N 0.998 pfam_TMEM9 pfam_TMEM9 - no_errors TMEM9B HGNC ENSG00000175348 68 15 18.07 65 0 0.00 TMF1 7110 genome.wustl.edu 37 3 69073265 69073265 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 69073265 69073265 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.3088 p.Q1030E 1.000 pfam_TMF_TATA-bd pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 72 36 33.33 93 0 0.00 TMF1 7110 genome.wustl.edu 37 3 69075149 69075149 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 69075149 69075149 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.2866 p.Q956E 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 28 6 17.65 63 0 0.00 TMF1 7110 genome.wustl.edu 37 3 69093647 69093647 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 69093647 69093647 T G SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.1456 p.K486Q 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 23 3 11.54 47 0 0.00 TMF1 7110 genome.wustl.edu 37 3 69101209 69101209 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 69101209 69101209 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.29 p.S10C 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 31 22 41.51 54 0 0.00 TMIGD1 388364 genome.wustl.edu 37 17 28656379 28656379 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28656379 28656379 G T SNP TMIGD1 ENST00000328886 human ensembl 70_37 -1 known missense c.251 p.S84Y 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TMIGD1 HGNC ENSG00000182271 46 13 22.03 50 0 0.00 TMLHE 55217 genome.wustl.edu 37 X 154754249 154754249 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 154754249 154754249 G T SNP TMLHE ENST00000334398 human ensembl 70_37 -1 known missense c.226 p.L76I 1.000 pfam_DUF971,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 67 38 36.19 48 0 0.00 TMLHE 55217 genome.wustl.edu 37 X 154842494 154842494 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 154842494 154842494 G A SNP TMLHE ENST00000461075 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMLHE HGNC ENSG00000185973 68 46 40.35 27 0 0.00 TMOD1 7111 genome.wustl.edu 37 9 100315615 100315615 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 100315615 100315615 G A SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known silent c.330 p.V110 0.999 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 57 12 17.39 106 0 0.00 TMOD1 7111 genome.wustl.edu 37 9 100326399 100326399 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 100326399 100326399 G C SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known silent c.567 p.R189 0.985 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 34 36 51.43 58 0 0.00 TMOD1 7111 genome.wustl.edu 37 9 100328229 100328229 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 9 100328229 100328229 G A SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known missense c.718 p.V240M 1.000 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 16 41 71.93 65 0 0.00 TMOD3 29766 genome.wustl.edu 37 15 52239400 52239400 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 52239400 52239400 G C SNP TMOD3 ENST00000558300 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMOD3 HGNC ENSG00000138594 5 18 78.26 30 0 0.00 TMPO 7112 genome.wustl.edu 37 12 98931269 98931269 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 98931269 98931269 C G SNP TMPO ENST00000556029 human ensembl 70_37 +1 known silent c.582 p.L194 1.000 NULL pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM - no_errors TMPO HGNC ENSG00000120802 37 12 24.49 16 0 0.00 TMPO 7112 genome.wustl.edu 37 12 98938002 98938002 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 98938002 98938002 G C SNP TMPO ENST00000548223 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMPO HGNC ENSG00000120802 48 16 25.00 33 0 0.00 TMPO 7112 genome.wustl.edu 37 12 98938002 98938002 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 98938002 98938002 G C SNP TMPO ENST00000548223 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMPO HGNC ENSG00000120802 51 9 15.00 45 0 0.00 TMPO 7112 genome.wustl.edu 37 12 98938791 98938791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 98938791 98938791 C A SNP TMPO ENST00000556029 human ensembl 70_37 +1 known missense c.942 p.F314L 1.000 NULL pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM - no_errors TMPO HGNC ENSG00000120802 16 8 33.33 32 0 0.00 TMPPE 643853 genome.wustl.edu 37 3 33134488 33134488 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 33134488 33134488 C G SNP TMPPE ENST00000342462 human ensembl 70_37 -1 known missense c.1200 p.L400F 1.000 NULL pfam_Metallo_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 36 33 47.14 52 0 0.00 TMPRSS11A 339967 genome.wustl.edu 37 4 68777060 68777060 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68777060 68777060 T G SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known nonstop c.1266 p.*422Y 0.860 NULL pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 24 20 45.45 63 0 0.00 TMPRSS11A 339967 genome.wustl.edu 37 4 68777208 68777208 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 68777208 68777208 C T SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known missense c.1118 p.G373E 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 116 23 16.55 117 0 0.00 TMPRSS11A 339967 genome.wustl.edu 37 4 68780365 68780365 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 68780365 68780365 C G SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known missense c.1045 p.D349H 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 168 84 33.33 217 0 0.00 TMPRSS11A 339967 genome.wustl.edu 37 4 68812207 68812207 + Frame_Shift_Del DEL C C - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 68812207 68812207 C - DEL TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known frame_shift_del c.94 p.A32fs 0.001 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 13 2 13.33 57 0 0.00 TMPRSS11D 9407 genome.wustl.edu 37 4 68692991 68692991 + Nonsense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 4 68692991 68692991 G A SNP TMPRSS11D ENST00000283916 human ensembl 70_37 -1 known nonsense c.940 p.Q314* 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11D HGNC ENSG00000153802 46 41 47.13 69 0 0.00 TMPRSS11D 9407 genome.wustl.edu 37 4 68719872 68719872 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 68719872 68719872 G C SNP TMPRSS11D ENST00000283916 human ensembl 70_37 -1 known missense c.163 p.Q55E 0.003 pfam_SEA,smart_SEA,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11D HGNC ENSG00000153802 68 14 17.07 96 0 0.00 TMPRSS11F 389208 genome.wustl.edu 37 4 68925067 68925067 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 68925067 68925067 C T SNP TMPRSS11F ENST00000356291 human ensembl 70_37 -1 known missense c.1135 p.E379K 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11F HGNC ENSG00000198092 42 15 26.32 81 0 0.00 TMPRSS12 283471 genome.wustl.edu 37 12 51279034 51279034 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 51279034 51279034 G A SNP TMPRSS12 ENST00000398458 human ensembl 70_37 +1 known missense c.658 p.A220T 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC ENSG00000186452 22 4 15.38 23 0 0.00 TMPRSS13 84000 genome.wustl.edu 37 11 117789272 117789272 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 117789272 117789272 G A SNP TMPRSS13 ENST00000445164 human ensembl 70_37 -1 known silent c.303 p.S101 0.000 pirsf_Peptidase_S1A_TMPRSS13 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS13 HGNC ENSG00000137747 179 21 10.50 236 1 0.42 TMPRSS15 5651 genome.wustl.edu 37 21 19701525 19701525 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 21 19701525 19701525 C G SNP TMPRSS15 ENST00000284885 human ensembl 70_37 -1 known missense c.1741 p.E581Q 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 44 14 24.14 86 0 0.00 TMPRSS15 5651 genome.wustl.edu 37 21 19770616 19770616 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 21 19770616 19770616 C G SNP TMPRSS15 ENST00000284885 human ensembl 70_37 -1 known missense c.176 p.R59T 0.994 pfam_SEA,smart_SEA,pfscan_SEA pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 31 18 36.73 24 0 0.00 TMPRSS3 64699 genome.wustl.edu 37 21 43792007 43792007 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 43792007 43792007 G A SNP TMPRSS3 ENST00000474596 human ensembl 70_37 -1 putative rna NULL NULL 0.022 - - - no_errors TMPRSS3 HGNC ENSG00000160183 34 29 46.03 35 0 0.00 TMPRSS3 64699 genome.wustl.edu 37 21 43792022 43792022 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 43792022 43792022 G C SNP TMPRSS3 ENST00000474596 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors TMPRSS3 HGNC ENSG00000160183 11 7 38.89 17 0 0.00 TMPRSS3 64699 genome.wustl.edu 37 21 43802067 43802067 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 21 43802067 43802067 C G SNP TMPRSS3 ENST00000478680 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMPRSS3 HGNC ENSG00000160183 10 7 41.18 21 0 0.00 TMPRSS3 64699 genome.wustl.edu 37 21 43815561 43815561 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 43815561 43815561 G A SNP TMPRSS3 ENST00000380399 human ensembl 70_37 -1 known missense c.218 p.A73V 0.851 NULL pfam_Peptidase_S1_S6,pfam_Srcr_rcpt,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 30 4 11.76 12 0 0.00 TMPRSS3 64699 genome.wustl.edu 37 21 43816182 43816182 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 43816182 43816182 G A SNP TMPRSS3 ENST00000380399 human ensembl 70_37 -1 known missense c.70 p.R24W 0.000 NULL pfam_Peptidase_S1_S6,pfam_Srcr_rcpt,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 29 16 35.56 60 0 0.00 TMPRSS6 164656 genome.wustl.edu 37 22 37471306 37471306 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 22 37471306 37471306 C T SNP TMPRSS6 ENST00000381792 human ensembl 70_37 -1 known missense c.1211 p.R404H 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB,pfscan_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 41 15 26.79 58 0 0.00 TMPRSS6 164656 genome.wustl.edu 37 22 37480241 37480241 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 37480241 37480241 G C SNP TMPRSS6 ENST00000442782 human ensembl 70_37 -1 known silent c.1317 p.V439 0.000 NULL pfam_SEA,superfamily_CUB,pfscan_CUB - no_errors TMPRSS6 HGNC ENSG00000187045 49 19 27.94 45 0 0.00 TMPRSS6 164656 genome.wustl.edu 37 22 37482381 37482381 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 22 37482381 37482381 C G SNP TMPRSS6 ENST00000381792 human ensembl 70_37 -1 known missense c.915 p.K305N 0.996 pirsf_Pept_S1A_matriptase-2,superfamily_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 18 4 17.39 38 0 0.00 TMPRSS6 164656 genome.wustl.edu 37 22 37485664 37485664 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 37485664 37485664 C T SNP TMPRSS6 ENST00000381792 human ensembl 70_37 -1 known missense c.790 p.A264T 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 8 4 33.33 16 0 0.00 TMPRSS7 344805 genome.wustl.edu 37 3 111766716 111766716 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 111766716 111766716 C G SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known silent c.483 p.L161 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 52 44 45.83 60 0 0.00 TMPRSS7 344805 genome.wustl.edu 37 3 111785331 111785331 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111785331 111785331 G A SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1270 p.E424K 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 48 23 32.39 32 0 0.00 TMPRSS7 344805 genome.wustl.edu 37 3 111794194 111794194 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 111794194 111794194 C T SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1432 p.H478Y 0.289 superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 33 21 38.89 29 0 0.00 TMPRSS7 344805 genome.wustl.edu 37 3 111795803 111795803 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 111795803 111795803 G A SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1658 p.R553K 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 126 35 21.74 50 0 0.00 TMPRSS9 360200 genome.wustl.edu 37 19 2408436 2408436 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2408436 2408436 G A SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.823 p.V275M 0.059 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 103 81 44.02 162 0 0.00 TMPRSS9 360200 genome.wustl.edu 37 19 2408502 2408502 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 2408502 2408502 G C SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.889 p.E297Q 0.993 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 81 63 43.45 131 0 0.00 TMPRSS9 360200 genome.wustl.edu 37 19 2421914 2421914 + Silent SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2421914 2421914 C A SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known silent c.2115 p.I705 0.721 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 62 20 24.39 73 0 0.00 TMPRSS9 360200 genome.wustl.edu 37 19 2425109 2425109 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 2425109 2425109 C T SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.2725 p.L909F 0.998 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 44 10 18.52 68 0 0.00 TMSB4X 7114 genome.wustl.edu 37 X 12994420 12994420 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 12994420 12994420 G A SNP TMSB4X ENST00000380633 human ensembl 70_37 +1 known missense c.40 p.D14N 1.000 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata - no_errors TMSB4X HGNC ENSG00000205542 86 27 23.89 94 0 0.00 TMTC1 83857 genome.wustl.edu 37 12 29659559 29659559 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 29659559 29659559 C G SNP TMTC1 ENST00000319685 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMTC1 HGNC ENSG00000133687 15 7 31.82 8 0 0.00 TMTC1 83857 genome.wustl.edu 37 12 29908757 29908757 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 29908757 29908757 G A SNP TMTC1 ENST00000256062 human ensembl 70_37 -1 known silent c.292 p.L98 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 36 4 10.00 38 0 0.00 TMTC1 83857 genome.wustl.edu 37 12 29936472 29936472 + Nonsense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 29936472 29936472 C T SNP TMTC1 ENST00000539277 human ensembl 70_37 -1 putative nonsense c.213 p.W71* 0.991 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 33 8 19.51 25 0 0.00 TMTC1 83857 genome.wustl.edu 37 12 29936515 29936515 + Missense_Mutation SNP A A G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 12 29936515 29936515 A G SNP TMTC1 ENST00000539277 human ensembl 70_37 -1 putative missense c.170 p.I57T 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 24 9 27.27 17 0 0.00 TMTC1 83857 genome.wustl.edu 37 12 29936562 29936562 + Nonsense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 29936562 29936562 G T SNP TMTC1 ENST00000539277 human ensembl 70_37 -1 putative nonsense c.123 p.Y41* 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 27 6 18.18 22 0 0.00 TMTC2 160335 genome.wustl.edu 37 12 83251179 83251179 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 83251179 83251179 C G SNP TMTC2 ENST00000321196 human ensembl 70_37 +1 known missense c.474 p.H158Q 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 34 24 41.38 60 0 0.00 TMTC2 160335 genome.wustl.edu 37 12 83526008 83526008 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 83526008 83526008 A C SNP TMTC2 ENST00000321196 human ensembl 70_37 +1 known missense c.2351 p.N784T 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 18 9 33.33 49 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88542183 88542183 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 88542183 88542183 G C SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.91 p.D31H 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 42 7 14.00 111 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88547151 88547151 + Silent SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 88547151 88547151 A G SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known silent c.273 p.S91 0.636 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 69 19 21.59 71 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88560202 88560202 + Nonsense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 88560202 88560202 C A SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known nonsense c.893 p.S298* 1.000 pfam_DUF1736 pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 98 19 16.24 122 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88586525 88586525 + Frame_Shift_Del DEL A A - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 88586525 88586525 A - DEL TMTC3 ENST00000266712 human ensembl 70_37 +1 known frame_shift_del c.1851 p.N619fs 0.393 pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 3 3 50.00 29 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88589037 88589037 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 88589037 88589037 G C SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.2356 p.D786H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 22 4 15.38 27 0 0.00 TMTC3 160418 genome.wustl.edu 37 12 88589382 88589382 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 88589382 88589382 T G SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.2701 p.L901V 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 6 2 25.00 13 0 0.00 TMTC4 84899 genome.wustl.edu 37 13 101257341 101257341 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 13 101257341 101257341 G A SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known silent c.2190 p.I730 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 57 88 60.69 225 0 0.00 TMTC4 84899 genome.wustl.edu 37 13 101264734 101264734 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 101264734 101264734 C T SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1982 p.R661K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 26 6 18.75 55 0 0.00 TMTC4 84899 genome.wustl.edu 37 13 101264747 101264747 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 101264747 101264747 C T SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1969 p.E657K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 27 7 20.59 58 0 0.00 TMTC4 84899 genome.wustl.edu 37 13 101287313 101287313 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 101287313 101287313 C G SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1339 p.G447R 0.888 NULL pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 11 7 38.89 27 0 0.00 TMUB2 79089 genome.wustl.edu 37 17 42266673 42266673 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42266673 42266673 G A SNP TMUB2 ENST00000538716 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC ENSG00000168591 18 12 40.00 24 0 0.00 TMX1 81542 genome.wustl.edu 37 14 51716416 51716416 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 51716416 51716416 G A SNP TMX1 ENST00000457354 human ensembl 70_37 +1 known missense c.597 p.M199I 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 18 4 18.18 23 0 0.00 TMX3 54495 genome.wustl.edu 37 18 66344338 66344338 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 66344338 66344338 G A SNP TMX3 ENST00000299608 human ensembl 70_37 -1 known silent c.1197 p.A399 0.132 NULL pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 178 23 11.44 265 0 0.00 TMX4 56255 genome.wustl.edu 37 20 7963053 7963053 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 7963053 7963053 G A SNP TMX4 ENST00000246024 human ensembl 70_37 -1 known nonsense c.895 p.Q299* 0.073 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 215 28 11.52 96 0 0.00 TMX4 56255 genome.wustl.edu 37 20 7982144 7982144 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 7982144 7982144 G A SNP TMX4 ENST00000246024 human ensembl 70_37 -1 known missense c.337 p.H113Y 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 98 13 11.71 42 0 0.00 TNC 3371 genome.wustl.edu 37 9 117791732 117791732 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117791732 117791732 A G SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.6076 p.F2026L 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 18 7 28.00 48 0 0.00 TNC 3371 genome.wustl.edu 37 9 117808902 117808902 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 117808902 117808902 G C SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4912 p.L1638V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 48 7 12.73 58 0 0.00 TNC 3371 genome.wustl.edu 37 9 117810761 117810761 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 117810761 117810761 C T SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4630 p.G1544R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 29 6 17.14 74 0 0.00 TNC 3371 genome.wustl.edu 37 9 117815268 117815268 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117815268 117815268 T G SNP TNC ENST00000542877 human ensembl 70_37 -1 novel missense c.3514 p.I1172L 0.985 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 29 9 23.68 51 0 0.00 TNC 3371 genome.wustl.edu 37 9 117817774 117817774 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117817774 117817774 C A SNP TNC ENST00000481475 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TNC HGNC ENSG00000041982 37 19 33.93 94 0 0.00 TNC 3371 genome.wustl.edu 37 9 117822051 117822051 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 117822051 117822051 G A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4264 p.R1422W 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 57 34 37.36 64 0 0.00 TNC 3371 genome.wustl.edu 37 9 117838840 117838840 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 117838840 117838840 T C SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.2689 p.R897G 0.982 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 344 89 20.41 450 0 0.00 TNC 3371 genome.wustl.edu 37 9 117848146 117848146 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117848146 117848146 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known nonsense c.1864 p.E622* 0.011 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 20 13 39.39 34 0 0.00 TNC 3371 genome.wustl.edu 37 9 117848473 117848473 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117848473 117848473 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.1537 p.D513Y 0.961 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 8 9 52.94 22 0 0.00 TNC 3371 genome.wustl.edu 37 9 117848831 117848831 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 117848831 117848831 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.1179 p.E393D 0.996 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 58 14 19.44 56 0 0.00 TNF 7124 genome.wustl.edu 37 6 31544969 31544969 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 31544969 31544969 G A SNP TNF ENST00000449264 human ensembl 70_37 +1 known silent c.357 p.L119 0.060 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c - no_errors TNF HGNC ENSG00000232810 36 8 18.18 43 0 0.00 TNFAIP2 7127 genome.wustl.edu 37 14 103592960 103592960 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 103592960 103592960 C T SNP TNFAIP2 ENST00000333007 human ensembl 70_37 +1 known nonsense c.166 p.Q56* 0.010 NULL pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 32 4 11.11 20 0 0.00 TNFAIP3 7128 genome.wustl.edu 37 6 138192623 138192623 + Missense_Mutation SNP C C G TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 6 138192623 138192623 C G SNP TNFAIP3 ENST00000237289 human ensembl 70_37 +1 known missense c.259 p.R87G 1.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 11 12 52.17 29 0 0.00 TNFAIP3 7128 genome.wustl.edu 37 6 138196079 138196079 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 138196079 138196079 G A SNP TNFAIP3 ENST00000237289 human ensembl 70_37 +1 known silent c.393 p.K131 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 22 31 58.49 40 0 0.00 TNFAIP3 7128 genome.wustl.edu 37 6 138202276 138202276 + Missense_Mutation SNP G G T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 6 138202276 138202276 G T SNP TNFAIP3 ENST00000237289 human ensembl 70_37 +1 known missense c.2193 p.E731D 0.091 pfam_Znf_A20,smart_Znf_A20 pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 73 51 41.13 129 1 0.77 TNFAIP6 7130 genome.wustl.edu 37 2 152226592 152226592 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 152226592 152226592 C T SNP TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known silent c.453 p.F151 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 120 43 26.38 115 0 0.00 TNFAIP6 7130 genome.wustl.edu 37 2 152226605 152226605 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 152226605 152226605 G A SNP TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known missense c.466 p.E156K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 32 21 39.62 50 0 0.00 TNFAIP6 7130 genome.wustl.edu 37 2 152236046 152236046 + Frame_Shift_Del DEL A A - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 152236046 152236046 A - DEL TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known frame_shift_del c.833 p.*278fs 0.961 NULL pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 9 4 30.77 15 0 0.00 TNFAIP8 25816 genome.wustl.edu 37 5 118728573 118728573 + Frame_Shift_Del DEL A A - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 118728573 118728573 A - DEL TNFAIP8 ENST00000504771 human ensembl 70_37 +1 known frame_shift_del c.94 p.M33fs 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8 HGNC ENSG00000145779 4 2 33.33 18 0 0.00 TNFAIP8L1 126282 genome.wustl.edu 37 19 4640537 4640537 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 4640537 4640537 C A SNP TNFAIP8L1 ENST00000598107 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TNFAIP8L1 HGNC ENSG00000185361 43 5 10.42 38 0 0.00 TNFAIP8L1 126282 genome.wustl.edu 37 19 4651990 4651990 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 4651990 4651990 G C SNP TNFAIP8L1 ENST00000327473 human ensembl 70_37 +1 known missense c.109 p.E37Q 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC ENSG00000185361 17 4 19.05 42 0 0.00 TNFAIP8L1 126282 genome.wustl.edu 37 19 4652044 4652044 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 4652044 4652044 G A SNP TNFAIP8L1 ENST00000327473 human ensembl 70_37 +1 known missense c.163 p.E55K 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC ENSG00000185361 37 6 13.95 35 0 0.00 TNFAIP8L2 79626 genome.wustl.edu 37 1 151131683 151131683 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 151131683 151131683 G C SNP TNFAIP8L2 ENST00000368910 human ensembl 70_37 +1 known missense c.510 p.K170N 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L2 HGNC ENSG00000163154 36 8 18.18 52 0 0.00 TNFRSF10A 8797 genome.wustl.edu 37 8 23054708 23054708 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 23054708 23054708 C G SNP TNFRSF10A ENST00000221132 human ensembl 70_37 -1 known missense c.1024 p.E342Q 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 65 23 26.14 89 0 0.00 TNFRSF10A 8797 genome.wustl.edu 37 8 23082497 23082497 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 23082497 23082497 C T SNP TNFRSF10A ENST00000221132 human ensembl 70_37 -1 known silent c.78 p.G26 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 32 16 33.33 64 0 0.00 TNFRSF10B 8795 genome.wustl.edu 37 8 22884718 22884718 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 22884718 22884718 T G SNP TNFRSF10B ENST00000276431 human ensembl 70_37 -1 known missense c.864 p.E288D 0.000 pirsf_TNFR_10 pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10B HGNC ENSG00000120889 16 12 42.86 19 0 0.00 TNFRSF10C 8794 genome.wustl.edu 37 8 22974403 22974403 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 8 22974403 22974403 G A SNP TNFRSF10C ENST00000356864 human ensembl 70_37 +1 known missense c.639 p.M213I 0.022 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10C HGNC ENSG00000173535 15 22 59.46 56 0 0.00 TNFRSF10D 8793 genome.wustl.edu 37 8 23004583 23004583 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23004583 23004583 G A SNP TNFRSF10D ENST00000312584 human ensembl 70_37 -1 known nonsense c.373 p.Q125* 0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 68 26 27.66 85 0 0.00 TNFRSF10D 8793 genome.wustl.edu 37 8 23021422 23021422 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 23021422 23021422 C T SNP TNFRSF10D ENST00000312584 human ensembl 70_37 -1 known silent c.27 p.P9 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 18 18 50.00 58 0 0.00 TNFRSF11A 8792 genome.wustl.edu 37 18 60017106 60017106 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 60017106 60017106 G A SNP TNFRSF11A ENST00000586569 human ensembl 70_37 +1 known silent c.219 p.P73 0.483 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 183 31 14.42 247 0 0.00 TNFRSF11B 4982 genome.wustl.edu 37 8 119936712 119936712 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 119936712 119936712 G C SNP TNFRSF11B ENST00000297350 human ensembl 70_37 -1 known missense c.1107 p.I369M 0.756 superfamily_DEATH-like,pirsf_TNFR_11B pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,prints_TNFR_11 - no_errors TNFRSF11B HGNC ENSG00000164761 39 16 29.09 51 0 0.00 TNFRSF12A 51330 genome.wustl.edu 37 16 3071661 3071661 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 3071661 3071661 G A SNP TNFRSF12A ENST00000326577 human ensembl 70_37 +1 known missense c.305 p.R102K 1.000 pfam_TNFR_12 pfam_TNFR_12,prints_TNFR_12 - no_errors TNFRSF12A HGNC ENSG00000006327 17 3 15.00 34 0 0.00 TNFRSF12A 51330 genome.wustl.edu 37 16 3071954 3071954 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 3071954 3071954 G A SNP TNFRSF12A ENST00000575124 human ensembl 70_37 +1 putative silent c.680 p.*227 0.086 NULL NULL - no_errors TNFRSF12A HGNC ENSG00000006327 35 7 16.67 36 0 0.00 TNFRSF13B 23495 genome.wustl.edu 37 17 16843020 16843020 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 16843020 16843020 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.723 p.T241 0.998 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 63 16 20.25 117 0 0.00 TNFRSF13B 23495 genome.wustl.edu 37 17 16843713 16843713 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16843713 16843713 G A SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.558 p.L186 1.000 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 15 14 46.67 36 0 0.00 TNFRSF13B 23495 genome.wustl.edu 37 17 16852098 16852098 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 16852098 16852098 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.399 p.S133 0.000 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 58 31 34.83 120 0 0.00 TNFRSF13B 23495 genome.wustl.edu 37 17 16852118 16852118 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 16852118 16852118 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known missense c.379 p.E127K 0.001 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 35 18 33.96 54 0 0.00 TNFRSF14 8764 genome.wustl.edu 37 1 2493180 2493180 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2493180 2493180 C G SNP TNFRSF14 ENST00000355716 human ensembl 70_37 +1 known nonsense c.620 p.S207* 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt - no_errors TNFRSF14 HGNC ENSG00000157873 91 57 38.51 106 0 0.00 TNFRSF14 8764 genome.wustl.edu 37 1 2493276 2493276 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 2493276 2493276 C T SNP TNFRSF14 ENST00000480305 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFRSF14 HGNC ENSG00000157873 54 42 43.75 79 0 0.00 TNFRSF18 8784 genome.wustl.edu 37 1 1139439 1139439 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1139439 1139439 C T SNP TNFRSF18 ENST00000379268 human ensembl 70_37 -1 known silent c.576 p.L192 0.940 NULL smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_18 - no_errors TNFRSF18 HGNC ENSG00000186891 11 6 35.29 10 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6439073 6439073 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6439073 6439073 G A SNP TNFRSF1A ENST00000162749 human ensembl 70_37 -1 known missense c.928 p.P310S 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 137 16 10.39 80 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6440006 6440006 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6440006 6440006 C T SNP TNFRSF1A ENST00000535038 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors TNFRSF1A HGNC ENSG00000067182 5 10 66.67 42 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6440011 6440011 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6440011 6440011 C T SNP TNFRSF1A ENST00000535038 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors TNFRSF1A HGNC ENSG00000067182 34 26 43.33 37 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6442300 6442300 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6442300 6442300 C A SNP TNFRSF1A ENST00000162749 human ensembl 70_37 -1 known missense c.486 p.Q162H 0.902 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 17 6 25.00 53 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6442301 6442301 + Nonsense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6442301 6442301 T A SNP TNFRSF1A ENST00000534885 human ensembl 70_37 -1 known nonsense c.331 p.R111* 0.871 NULL NULL - no_errors TNFRSF1A HGNC ENSG00000067182 18 6 25.00 53 0 0.00 TNFRSF1A 7132 genome.wustl.edu 37 12 6442925 6442925 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6442925 6442925 G C SNP TNFRSF1A ENST00000534885 human ensembl 70_37 -1 known nonsense c.146 p.S49* 0.486 NULL NULL - no_errors TNFRSF1A HGNC ENSG00000067182 17 10 37.04 27 0 0.00 TNFRSF1B 7133 genome.wustl.edu 37 1 12254073 12254073 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12254073 12254073 C T SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known silent c.849 p.I283 0.069 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 81 47 36.72 110 0 0.00 TNFRSF1B 7133 genome.wustl.edu 37 1 12266884 12266884 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12266884 12266884 C A SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known missense c.1193 p.S398Y 0.947 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 22 15 40.54 37 0 0.00 TNFRSF1B 7133 genome.wustl.edu 37 1 12267024 12267024 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 12267024 12267024 G A SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known missense c.1333 p.E445K 0.008 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 17 8 32.00 52 0 0.00 TNFRSF21 27242 genome.wustl.edu 37 6 47200714 47200714 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 47200714 47200714 C A SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known silent c.1755 p.V585 0.995 superfamily_DEATH-like pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 32 4 11.11 31 0 0.00 TNFRSF21 27242 genome.wustl.edu 37 6 47251693 47251693 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 6 47251693 47251693 G C SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known missense c.1224 p.I408M 1.000 superfamily_DEATH-like,smart_Death,prints_TNFR_21 pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 28 52 65.00 103 1 0.96 TNFRSF21 27242 genome.wustl.edu 37 6 47251881 47251881 + Missense_Mutation SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 6 47251881 47251881 T C SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known missense c.1036 p.I346V 1.000 prints_TNFR_21 pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 35 29 45.31 28 0 0.00 TNFRSF6B 8771 genome.wustl.edu 37 20 62328438 62328438 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 20 62328438 62328438 C T SNP TNFRSF6B ENST00000369996 human ensembl 70_37 +1 known silent c.318 p.H106 0.001 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF6B HGNC ENSG00000243509 3 3 50.00 8 0 0.00 TNFRSF6B 8771 genome.wustl.edu 37 20 62328684 62328684 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 62328684 62328684 C T SNP TNFRSF6B ENST00000369996 human ensembl 70_37 +1 known missense c.428 p.T143I 0.980 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF6B HGNC ENSG00000243509 12 7 36.84 12 0 0.00 TNFRSF8 943 genome.wustl.edu 37 1 12164498 12164498 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 12164498 12164498 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known missense c.331 p.G111S 0.978 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 86 17 16.35 105 0 0.00 TNFRSF8 943 genome.wustl.edu 37 1 12169642 12169642 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 12169642 12169642 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known silent c.441 p.T147 0.000 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 93 30 24.39 88 0 0.00 TNFRSF8 943 genome.wustl.edu 37 1 12183349 12183349 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 12183349 12183349 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known missense c.955 p.E319K 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 47 30 38.96 86 0 0.00 TNFRSF8 943 genome.wustl.edu 37 1 12202343 12202343 + Splice_Site SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 12202343 12202343 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known splice_site c.1544-1 e15-1 1.000 - - - no_errors TNFRSF8 HGNC ENSG00000120949 57 8 12.31 33 0 0.00 TNFRSF8 943 genome.wustl.edu 37 1 12202462 12202462 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 12202462 12202462 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known silent c.1662 p.A554 0.926 prints_TNFR_8 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 40 47 54.02 152 0 0.00 TNFSF10 8743 genome.wustl.edu 37 3 172224398 172224398 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 172224398 172224398 G T SNP TNFSF10 ENST00000241261 human ensembl 70_37 -1 known missense c.730 p.Q244K 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF10 HGNC ENSG00000121858 94 24 20.34 69 0 0.00 TNFSF10 8743 genome.wustl.edu 37 3 172229441 172229441 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 172229441 172229441 C G SNP TNFSF10 ENST00000241261 human ensembl 70_37 -1 known missense c.279 p.L93F 1.000 pirsf_TNF_ligand_10/11 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF10 HGNC ENSG00000121858 27 16 37.21 28 0 0.00 TNFSF11 8600 genome.wustl.edu 37 13 43181040 43181040 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 43181040 43181040 C T SNP TNFSF11 ENST00000239849 human ensembl 70_37 +1 known nonsense c.940 p.R314* 0.725 superfamily_Tumour_necrosis_fac-like,pirsf_TNF_ligand_10/11 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF11 HGNC ENSG00000120659 10 5 33.33 19 0 0.00 TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7452616 7452616 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 7452616 7452616 C T SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 70_37 +1 known missense c.146 p.S49L 0.985 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 30 10 25.00 20 0 0.00 TNFSF13B 10673 genome.wustl.edu 37 13 108922315 108922315 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 108922315 108922315 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known silent c.72 p.L24 0.038 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC ENSG00000102524 30 7 18.92 58 0 0.00 TNFSF13B 10673 genome.wustl.edu 37 13 108955643 108955643 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 108955643 108955643 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known missense c.524 p.G175E 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC ENSG00000102524 39 11 22.00 48 0 0.00 TNFSF13B 10673 genome.wustl.edu 37 13 108955665 108955665 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 108955665 108955665 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known silent c.546 p.E182 0.998 pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC ENSG00000102524 35 16 31.37 49 0 0.00 TNFSF13B 10673 genome.wustl.edu 37 13 108959350 108959350 + RNA SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 108959350 108959350 C G SNP TNFSF13B ENST00000493765 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFSF13B HGNC ENSG00000102524 23 5 17.86 23 0 0.00 TNFSF15 9966 genome.wustl.edu 37 9 117553053 117553053 + Silent SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 117553053 117553053 T C SNP TNFSF15 ENST00000374045 human ensembl 70_37 -1 known silent c.435 p.G145 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c - no_errors TNFSF15 HGNC ENSG00000181634 39 14 26.42 43 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170781816 170781816 + RNA SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 170781816 170781816 G A SNP TNIK ENST00000464785 human ensembl 70_37 -1 putative rna NULL NULL 0.999 - - - no_errors TNIK HGNC ENSG00000154310 63 7 10.00 46 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170786639 170786639 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 170786639 170786639 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.3697 p.H1233Y 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 21 14 40.00 17 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170802051 170802051 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 170802051 170802051 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.3062 p.S1021L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 21 13 38.24 62 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170819317 170819317 + Missense_Mutation SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170819317 170819317 T G SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2512 p.S838R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 139 89 38.86 241 1 0.41 TNIK 23043 genome.wustl.edu 37 3 170819317 170819317 + Missense_Mutation SNP T T G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 170819317 170819317 T G SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2512 p.S838R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 37 26 41.27 33 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170828505 170828505 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 170828505 170828505 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2282 p.R761Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 10 7 41.18 14 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170841401 170841401 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 170841401 170841401 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known nonsense c.2104 p.Q702* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 99 59 37.34 129 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170858220 170858220 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 170858220 170858220 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1300 p.E434K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 307 86 21.83 320 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170858273 170858273 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 170858273 170858273 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1247 p.R416Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 58 11 15.94 40 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170875260 170875260 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 170875260 170875260 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1210 p.R404W 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 33 18 35.29 55 0 0.00 TNIK 23043 genome.wustl.edu 37 3 170928992 170928992 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 170928992 170928992 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known silent c.219 p.L73 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 75 28 27.18 40 0 0.00 TNIK 23043 genome.wustl.edu 37 3 171087431 171087431 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 171087431 171087431 C A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.101 p.G34V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 34 4 10.53 33 0 0.00 TNIP3 79931 genome.wustl.edu 37 4 122071296 122071296 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 122071296 122071296 C T SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known missense c.571 p.E191K 0.463 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 29 8 21.62 53 0 0.00 TNIP3 79931 genome.wustl.edu 37 4 122082291 122082291 + Missense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 122082291 122082291 C A SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known missense c.147 p.E49D 1.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 85 14 14.14 84 0 0.00 TNIP3 79931 genome.wustl.edu 37 4 122082365 122082365 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 122082365 122082365 C T SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known missense c.73 p.E25K 0.560 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 21 10 32.26 44 0 0.00 TNIP3 79931 genome.wustl.edu 37 4 122137568 122137568 + Splice_Site SNP A A C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 4 122137568 122137568 A C SNP TNIP3 ENST00000454328 human ensembl 70_37 -1 known splice_site c.1+2 e0+2 1.000 - - - no_errors TNIP3 HGNC ENSG00000050730 27 7 20.59 40 0 0.00 TNK1 8711 genome.wustl.edu 37 17 7287072 7287072 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7287072 7287072 G A SNP TNK1 ENST00000576812 human ensembl 70_37 +1 known silent c.471 p.P157 0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 53 21 28.00 49 0 0.00 TNK2 10188 genome.wustl.edu 37 3 195594534 195594534 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 195594534 195594534 C T SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.2824 p.E942K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 29 11 27.50 24 0 0.00 TNK2 10188 genome.wustl.edu 37 3 195595033 195595033 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 195595033 195595033 C A SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known silent c.2325 p.P775 0.050 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 32 8 20.00 16 0 0.00 TNK2 10188 genome.wustl.edu 37 3 195608929 195608929 + Missense_Mutation SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 195608929 195608929 A G SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.1069 p.F357L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 45 9 16.67 42 0 0.00 TNK2 10188 genome.wustl.edu 37 3 195610077 195610077 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 195610077 195610077 C T SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.749 p.R250Q 0.976 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 96 11 10.28 51 0 0.00 TNKS 8658 genome.wustl.edu 37 8 9538266 9538266 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 9538266 9538266 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known silent c.1063 p.L355 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 91 21 18.75 129 0 0.00 TNKS 8658 genome.wustl.edu 37 8 9563734 9563734 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 9563734 9563734 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.1240 p.H414Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 55 13 19.12 48 0 0.00 TNKS 8658 genome.wustl.edu 37 8 9563734 9563734 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 9563734 9563734 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.1240 p.H414Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 92 62 40.26 146 0 0.00 TNKS 8658 genome.wustl.edu 37 8 9605588 9605588 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 9605588 9605588 G T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.2698 p.D900Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 4 8 66.67 21 0 0.00 TNKS 8658 genome.wustl.edu 37 8 9634219 9634219 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 9634219 9634219 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known silent c.3957 p.T1319 0.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 23 17 42.50 57 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57069935 57069935 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 11 57069935 57069935 C T SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4681 p.E1561K 0.993 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 66 11 14.29 51 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57070031 57070031 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57070031 57070031 C A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4585 p.A1529S 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 56 20 26.32 61 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57075888 57075888 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57075888 57075888 C A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4297 p.A1433S 0.001 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 49 43 46.74 118 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57077101 57077101 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 57077101 57077101 G A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known silent c.3084 p.F1028 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 18 5 21.74 27 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57080263 57080263 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 57080263 57080263 G A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known silent c.1899 p.L633 0.849 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 19 3 13.64 23 0 0.00 TNKS1BP1 85456 genome.wustl.edu 37 11 57080766 57080766 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 57080766 57080766 C T SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.1396 p.A466T 0.911 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 26 23 46.00 32 0 0.00 TNKS2 80351 genome.wustl.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 10 93601945 93601946 - A INS TNKS2 ENST00000371627 human ensembl 70_37 +1 known frame_shift_ins c.1856_1857 p.N622fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 62 7 10.14 61 0 0.00 TNKS2 80351 genome.wustl.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 93601945 93601946 - A INS TNKS2 ENST00000371627 human ensembl 70_37 +1 known frame_shift_ins c.1856_1857 p.N622fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 19 5 20.83 43 0 0.00 TNKS2 80351 genome.wustl.edu 37 10 93610994 93610994 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 93610994 93610994 G A SNP TNKS2 ENST00000371627 human ensembl 70_37 +1 known missense c.2716 p.E906K 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 82 104 55.91 95 0 0.00 TNKS2 80351 genome.wustl.edu 37 10 93611064 93611064 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 93611064 93611064 G A SNP TNKS2 ENST00000371627 human ensembl 70_37 +1 known missense c.2786 p.G929E 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 26 21 44.68 30 0 0.00 TNMD 64102 genome.wustl.edu 37 X 99849347 99849347 + Missense_Mutation SNP G G T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 99849347 99849347 G T SNP TNMD ENST00000373031 human ensembl 70_37 +1 known missense c.411 p.E137D 0.784 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 33 15 31.25 28 0 0.00 TNMD 64102 genome.wustl.edu 37 X 99854613 99854613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 99854613 99854613 G A SNP TNMD ENST00000373031 human ensembl 70_37 +1 known missense c.853 p.G285S 1.000 superfamily_Chitin-bd_1 pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 19 21 52.50 46 0 0.00 TNMD 64102 genome.wustl.edu 37 X 99854613 99854613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 99854613 99854613 G A SNP TNMD ENST00000373031 human ensembl 70_37 +1 known missense c.853 p.G285S 1.000 superfamily_Chitin-bd_1 pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 23 16 41.03 32 0 0.00 TNN 63923 genome.wustl.edu 37 1 175046842 175046842 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 175046842 175046842 G A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.288 p.Q96 0.989 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 8 7 46.67 28 0 0.00 TNN 63923 genome.wustl.edu 37 1 175063328 175063328 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 175063328 175063328 C A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.1527 p.V509 0.977 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 16 16 50.00 31 0 0.00 TNN 63923 genome.wustl.edu 37 1 175066664 175066664 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 175066664 175066664 C G SNP TNN ENST00000239462 human ensembl 70_37 +1 known missense c.1700 p.S567C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 35 37 51.39 86 0 0.00 TNN 63923 genome.wustl.edu 37 1 175086232 175086232 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 175086232 175086232 G A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.2277 p.Q759 0.637 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 82 11 11.83 76 0 0.00 TNNC2 7125 genome.wustl.edu 37 20 44453153 44453153 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 44453153 44453153 G A SNP TNNC2 ENST00000372555 human ensembl 70_37 -1 known silent c.180 p.I60 0.999 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TNNC2 HGNC ENSG00000101470 57 26 31.33 33 0 0.00 TNNI3 7137 genome.wustl.edu 37 19 55668952 55668952 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 55668952 55668952 C T SNP TNNI3 ENST00000344887 human ensembl 70_37 -1 known silent c.6 p.A2 0.802 NULL pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC ENSG00000129991 76 14 15.56 84 0 0.00 TNNI3 7137 genome.wustl.edu 37 19 55669030 55669030 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 55669030 55669030 G A SNP TNNI3 ENST00000590463 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNI3 HGNC ENSG00000129991 24 10 29.41 33 0 0.00 TNNI3 7137 genome.wustl.edu 37 19 55669030 55669030 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 55669030 55669030 G A SNP TNNI3 ENST00000590463 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNI3 HGNC ENSG00000129991 29 10 25.64 37 0 0.00 TNNI3K 51086 genome.wustl.edu 37 1 74835136 74835136 + Missense_Mutation SNP A A G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 74835136 74835136 A G SNP TNNI3K ENST00000370891 human ensembl 70_37 +1 known missense c.1837 p.I613V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNNI3K HGNC ENSG00000116783 71 22 23.66 86 0 0.00 TNNI3K 51086 genome.wustl.edu 37 1 75009599 75009599 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 75009599 75009599 C A SNP TNNI3K ENST00000370891 human ensembl 70_37 +1 known missense c.2744 p.S915Y 0.974 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNNI3K HGNC ENSG00000116783 48 9 15.79 61 0 0.00 TNNT2 7139 genome.wustl.edu 37 1 201333443 201333443 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 201333443 201333443 G A SNP TNNT2 ENST00000458432 human ensembl 70_37 -1 known missense c.478 p.R160W 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 38 33 46.48 59 0 0.00 TNNT2 7139 genome.wustl.edu 37 1 201334773 201334773 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 201334773 201334773 G A SNP TNNT2 ENST00000458432 human ensembl 70_37 -1 known missense c.265 p.P89S 1.000 NULL pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 36 20 35.71 68 0 0.00 TNNT2 7139 genome.wustl.edu 37 1 201341205 201341205 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 201341205 201341205 G C SNP TNNT2 ENST00000466570 human ensembl 70_37 -1 known rna NULL NULL 0.374 - - - no_errors TNNT2 HGNC ENSG00000118194 108 27 20.00 122 1 0.81 TNNT3 7140 genome.wustl.edu 37 11 1956267 1956267 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1956267 1956267 G C SNP TNNT3 ENST00000493234 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNNT3 HGNC ENSG00000130595 12 5 29.41 23 0 0.00 TNP2 7142 genome.wustl.edu 37 16 11362926 11362926 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 11362926 11362926 G C SNP TNP2 ENST00000312693 human ensembl 70_37 -1 known nonsense c.194 p.S65* 0.052 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC ENSG00000178279 209 98 31.92 176 0 0.00 TNPO1 3842 genome.wustl.edu 37 5 72173148 72173148 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 72173148 72173148 G C SNP TNPO1 ENST00000337273 human ensembl 70_37 +1 known missense c.895 p.D299H 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 30 24 44.44 69 0 0.00 TNPO1 3842 genome.wustl.edu 37 5 72196870 72196870 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 72196870 72196870 G T SNP TNPO1 ENST00000337273 human ensembl 70_37 +1 known missense c.2484 p.M828I 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 34 10 22.73 43 0 0.00 TNPO1 3842 genome.wustl.edu 37 5 72204697 72204697 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 72204697 72204697 G A SNP TNPO1 ENST00000519220 human ensembl 70_37 +1 novel missense c.1157 p.G386E 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors TNPO1 HGNC ENSG00000083312 23 20 46.51 44 0 0.00 TNPO2 30000 genome.wustl.edu 37 19 12816128 12816128 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 12816128 12816128 C T SNP TNPO2 ENST00000425528 human ensembl 70_37 -1 known missense c.1948 p.E650K 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 35 8 18.60 31 0 0.00 TNPO2 30000 genome.wustl.edu 37 19 12826312 12826312 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 12826312 12826312 G C SNP TNPO2 ENST00000425528 human ensembl 70_37 -1 known nonsense c.473 p.S158* 0.973 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 55 15 21.43 63 0 0.00 TNPO3 23534 genome.wustl.edu 37 7 128612587 128612587 + Missense_Mutation SNP G G T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 7 128612587 128612587 G T SNP TNPO3 ENST00000393245 human ensembl 70_37 -1 known missense c.2425 p.P809T 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 10 6 37.50 20 0 0.00 TNPO3 23534 genome.wustl.edu 37 7 128641126 128641126 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128641126 128641126 C T SNP TNPO3 ENST00000393245 human ensembl 70_37 -1 known missense c.859 p.E287K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 23 12 34.29 19 0 0.00 TNPO3 23534 genome.wustl.edu 37 7 128657089 128657089 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 128657089 128657089 G A SNP TNPO3 ENST00000393245 human ensembl 70_37 -1 known missense c.343 p.L115F 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 32 7 17.95 14 0 0.00 TNR 7143 genome.wustl.edu 37 1 175360461 175360461 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 175360461 175360461 C T SNP TNR ENST00000263525 human ensembl 70_37 -1 known silent c.1470 p.Q490 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 58 24 29.27 111 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5360020 5360020 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 5360020 5360020 G T SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.6674 p.P2225Q 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 28 4 12.50 35 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5360800 5360800 + Missense_Mutation SNP T T C TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 7 5360800 5360800 T C SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.6464 p.D2155G 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 26 8 23.53 34 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5372257 5372257 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 5372257 5372257 C T SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.6143 p.R2048K 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 30 20 40.00 44 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5399153 5399153 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 5399153 5399153 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4709 p.A1570V 0.997 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 85 13 13.27 90 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5401610 5401610 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 5401610 5401610 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4450 p.R1484W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 29 9 23.08 22 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5401610 5401610 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 5401610 5401610 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4450 p.R1484W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 31 13 29.55 62 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5410013 5410013 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 5410013 5410013 C G SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4212 p.E1404D 0.434 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 28 11 28.21 28 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5410712 5410712 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 5410712 5410712 C A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.3513 p.E1171D 0.025 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 39 19 32.76 54 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5417088 5417088 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 5417088 5417088 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.2375 p.S792F 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 15 4 21.05 14 0 0.00 TNRC18 84629 genome.wustl.edu 37 7 5430072 5430072 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5430072 5430072 C G SNP TNRC18 ENST00000399434 human ensembl 70_37 -1 putative silent c.309 p.L103 0.000 NULL NULL - no_errors TNRC18 HGNC ENSG00000182095 38 8 17.39 59 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24788506 24788506 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 24788506 24788506 G A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.416 p.R139Q 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 108 41 27.33 149 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24800641 24800641 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 24800641 24800641 G A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known silent c.678 p.K226 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 21 14 40.00 42 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24805874 24805874 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 24805874 24805874 C G SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.3362 p.S1121C 1.000 pfam_Argonaute_hook_dom pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 29 16 35.56 42 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24826503 24826503 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 24826503 24826503 C T SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.4708 p.P1570S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 43 23 34.85 72 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24831599 24831599 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 24831599 24831599 G T SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.5220 p.Q1740H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 136 64 32.00 211 0 0.00 TNRC6A 27327 genome.wustl.edu 37 16 24835021 24835021 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 24835021 24835021 C A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.5782 p.L1928M 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 43 11 20.37 88 0 0.00 TNRC6B 23112 genome.wustl.edu 37 22 40662236 40662236 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 40662236 40662236 G A SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.2002 p.D668N 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 19 9 32.14 22 0 0.00 TNRC6B 23112 genome.wustl.edu 37 22 40677147 40677147 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 40677147 40677147 G C SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.3436 p.D1146H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 30 10 25.00 51 0 0.00 TNRC6B 23112 genome.wustl.edu 37 22 40706860 40706860 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 40706860 40706860 C T SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.4298 p.P1433L 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 51 13 20.31 44 0 0.00 TNRC6C 57690 genome.wustl.edu 37 17 76045615 76045615 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 76045615 76045615 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 67 40 37.38 120 0 0.00 TNRC6C 57690 genome.wustl.edu 37 17 76046332 76046332 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 76046332 76046332 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.1189 p.E397K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 36 20 35.71 48 0 0.00 TNRC6C 57690 genome.wustl.edu 37 17 76060847 76060847 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 76060847 76060847 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.2431 p.E811K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 87 10 10.31 71 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218674679 218674679 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 218674679 218674679 C G SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.4828 p.E1610Q 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 62 24 27.91 33 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218686477 218686477 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 218686477 218686477 G A SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known silent c.3246 p.I1082 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 12 4 25.00 38 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218700857 218700857 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 218700857 218700857 C G SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.2710 p.E904Q 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 6 51 89.47 73 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 70_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 21 3 12.50 26 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 70_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 15 3 16.67 21 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218713588 218713588 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 218713588 218713588 G C SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.1277 p.S426C 0.081 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 30 23 43.40 39 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218724392 218724392 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 218724392 218724392 T A SNP TNS1 ENST00000310858 human ensembl 70_37 -1 putative missense c.1180 p.I394F 0.000 NULL pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 17 12 41.38 59 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218750487 218750487 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 218750487 218750487 G T SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.721 p.L241I 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 27 3 10.00 53 0 0.00 TNS1 7145 genome.wustl.edu 37 2 218758228 218758228 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 218758228 218758228 G A SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known silent c.276 p.S92 0.992 smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 27 6 18.18 40 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47323307 47323307 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 47323307 47323307 T A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.4085 p.D1362V 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 26 8 23.53 38 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47323459 47323459 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 47323459 47323459 G A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known silent c.3933 p.C1311 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 60 15 20.00 39 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47384590 47384590 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 47384590 47384590 C T SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.2498 p.R833K 0.844 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 26 17 39.53 40 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47385795 47385795 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 47385795 47385795 T C SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.2441 p.D814G 0.081 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 29 6 17.14 55 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47408264 47408264 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 47408264 47408264 G C SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.1979 p.S660C 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 50 8 13.79 27 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47408811 47408811 + Silent SNP G G A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 7 47408811 47408811 G A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known silent c.1432 p.L478 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 13 5 26.32 19 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47408885 47408885 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 47408885 47408885 C T SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.1358 p.G453E 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 36 33 47.83 52 0 0.00 TNS3 64759 genome.wustl.edu 37 7 47451364 47451364 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 47451364 47451364 G A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known silent c.684 p.I228 0.010 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 69 15 17.65 50 0 0.00 TNS4 84951 genome.wustl.edu 37 17 38638451 38638451 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 38638451 38638451 G C SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known silent c.1602 p.L534 0.981 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 28 5 15.15 23 0 0.00 TNS4 84951 genome.wustl.edu 37 17 38644991 38644991 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 38644991 38644991 G A SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known nonsense c.670 p.R224* 0.068 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 37 8 17.78 50 0 0.00 TNS4 84951 genome.wustl.edu 37 17 38645133 38645133 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 38645133 38645133 G A SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known silent c.528 p.F176 0.238 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 86 25 22.32 148 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32012817 32012817 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32012817 32012817 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.10887 p.K3629 0.882 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 88 11 11.11 102 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32023869 32023869 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 32023869 32023869 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.8226 p.L2742 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 21 10 32.26 39 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32026140 32026140 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 32026140 32026140 G T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.7520 p.P2507H 0.945 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 9 3 25.00 31 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32029988 32029988 + Missense_Mutation SNP A A C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 32029988 32029988 A C SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.7114 p.Y2372D 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 89 10 10.10 160 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32035601 32035601 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 32035601 32035601 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.6381 p.V2127 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 96 49 33.79 71 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32049228 32049228 + Missense_Mutation SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 32049228 32049228 T C SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.3959 p.D1320G 0.344 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 53 30 36.14 66 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32049424 32049424 + Frame_Shift_Del DEL G G - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 32049424 32049424 G - DEL TNXB ENST00000375247 human ensembl 70_37 -1 known frame_shift_del c.3763 p.R1255fs 0.009 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 32 20 38.46 47 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32053854 32053854 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 32053854 32053854 G T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.2821 p.P941T 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 47 11 18.97 43 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32061140 32061140 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32061140 32061140 A C SNP TNXB ENST00000479795 human ensembl 70_37 -1 putative missense c.2452 p.F818V 0.004 NULL pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom - no_errors TNXB HGNC ENSG00000168477 20 5 20.00 37 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32065757 32065757 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 32065757 32065757 G A SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.219 p.F73 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 30 10 25.00 46 0 0.00 TNXB 7148 genome.wustl.edu 37 6 32065772 32065772 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 32065772 32065772 C G SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.204 p.E68D 0.997 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 34 18 34.62 59 0 0.00 TOB2 10766 genome.wustl.edu 37 22 41832381 41832381 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41832381 41832381 G A SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known silent c.969 p.L323 1.000 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 94 36 27.48 157 0 0.00 TOB2 10766 genome.wustl.edu 37 22 41832533 41832533 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41832533 41832533 C G SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known missense c.817 p.D273H 0.999 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 15 11 42.31 33 0 0.00 TOB2 10766 genome.wustl.edu 37 22 41833211 41833211 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41833211 41833211 C T SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known missense c.139 p.E47K 0.962 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 37 24 39.34 52 0 0.00 TOE1 114034 genome.wustl.edu 37 1 45805812 45805812 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45805812 45805812 C T SNP TOE1 ENST00000477731 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOE1 HGNC ENSG00000132773 20 25 55.56 54 0 0.00 TOLLIP 54472 genome.wustl.edu 37 11 1298482 1298482 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 1298482 1298482 C T SNP TOLLIP ENST00000527938 human ensembl 70_37 -1 putative missense c.185 p.G62E 0.058 NULL NULL - no_errors TOLLIP HGNC ENSG00000078902 16 12 42.86 21 0 0.00 TOM1 10043 genome.wustl.edu 37 22 35719506 35719506 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719506 35719506 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known silent c.384 p.F128 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 12 10 45.45 29 0 0.00 TOM1 10043 genome.wustl.edu 37 22 35719764 35719764 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 35719764 35719764 G A SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.505 p.V169M 0.648 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 24 16 40.00 43 0 0.00 TOM1 10043 genome.wustl.edu 37 22 35719843 35719843 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719843 35719843 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.584 p.A195V 0.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 19 15 44.12 46 0 0.00 TOM1 10043 genome.wustl.edu 37 22 35719851 35719851 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719851 35719851 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known silent c.592 p.L198 0.532 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 18 14 43.75 47 0 0.00 TOM1 10043 genome.wustl.edu 37 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 35726358 35726358 C G SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.784 p.R262G 0.988 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 54 24 30.77 36 0 0.00 TOM1L1 10040 genome.wustl.edu 37 17 53007533 53007533 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 53007533 53007533 G A SNP TOM1L1 ENST00000575882 human ensembl 70_37 +1 known missense c.820 p.E274K 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 71 55 43.31 113 0 0.00 TOM1L1 10040 genome.wustl.edu 37 17 53016346 53016346 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 53016346 53016346 G C SNP TOM1L1 ENST00000575882 human ensembl 70_37 +1 known missense c.1095 p.M365I 0.918 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 78 33 29.73 121 0 0.00 TOM1L2 146691 genome.wustl.edu 37 17 17772740 17772740 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 17772740 17772740 G A SNP TOM1L2 ENST00000379504 human ensembl 70_37 -1 known silent c.825 p.L275 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 30 32 51.61 43 0 0.00 TOM1L2 146691 genome.wustl.edu 37 17 17801972 17801972 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 17801972 17801972 G A SNP TOM1L2 ENST00000379504 human ensembl 70_37 -1 known nonsense c.154 p.R52* 0.642 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 70 17 19.54 51 0 0.00 TOMM22 56993 genome.wustl.edu 37 22 39078412 39078412 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 39078412 39078412 G C SNP TOMM22 ENST00000216034 human ensembl 70_37 +1 known missense c.202 p.D68H 1.000 pfam_Tom22 pfam_Tom22 - no_errors TOMM22 HGNC ENSG00000100216 38 10 20.83 40 0 0.00 TOMM34 10953 genome.wustl.edu 37 20 43572097 43572097 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 43572097 43572097 G C SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known silent c.822 p.L274 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 53 38 41.76 105 0 0.00 TOMM34 10953 genome.wustl.edu 37 20 43577512 43577512 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 43577512 43577512 G C SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known missense c.557 p.S186C 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 28 29 50.88 58 0 0.00 TOMM34 10953 genome.wustl.edu 37 20 43580609 43580609 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 43580609 43580609 C G SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known missense c.415 p.E139Q 0.084 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 21 17 44.74 27 0 0.00 TOMM40 10452 genome.wustl.edu 37 19 45395670 45395670 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 45395670 45395670 G C SNP TOMM40 ENST00000252487 human ensembl 70_37 +1 known missense c.295 p.E99Q 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40 HGNC ENSG00000130204 81 73 47.40 153 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161197766 161197766 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 161197766 161197766 G A SNP TOMM40L ENST00000367987 human ensembl 70_37 +1 known silent c.471 p.L157 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40L HGNC ENSG00000158882 61 38 38.38 86 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161198297 161198297 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161198297 161198297 G A SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TOMM40L HGNC ENSG00000158882 53 6 10.17 34 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161198386 161198386 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 161198386 161198386 C A SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOMM40L HGNC ENSG00000158882 66 11 14.29 28 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161198486 161198486 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 161198486 161198486 C T SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors TOMM40L HGNC ENSG00000158882 21 13 38.24 29 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161198547 161198547 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161198547 161198547 G C SNP TOMM40L ENST00000367987 human ensembl 70_37 +1 known missense c.727 p.D243H 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40L HGNC ENSG00000158882 11 5 31.25 18 0 0.00 TOMM40L 84134 genome.wustl.edu 37 1 161199825 161199825 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 161199825 161199825 C G SNP TOMM40L ENST00000474486 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors TOMM40L HGNC ENSG00000158882 11 7 38.89 9 0 0.00 TOMM7 54543 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 70_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 13 4 23.53 27 0 0.00 TOMM7 54543 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 70_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 20 3 13.04 30 0 0.00 TOMM70A 9868 genome.wustl.edu 37 3 100105139 100105139 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 100105139 100105139 T A SNP TOMM70A ENST00000284320 human ensembl 70_37 -1 known missense c.548 p.N183I 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 72 14 16.28 98 0 0.00 TOMM70A 9868 genome.wustl.edu 37 3 100105146 100105146 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 100105146 100105146 C G SNP TOMM70A ENST00000284320 human ensembl 70_37 -1 known missense c.541 p.E181Q 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 66 11 14.29 96 0 0.00 TONSL 4796 genome.wustl.edu 37 8 145657729 145657729 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 145657729 145657729 G A SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3674 p.S1225F 0.040 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 99 16 13.91 103 0 0.00 TONSL 4796 genome.wustl.edu 37 8 145659401 145659401 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145659401 145659401 C T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3347 p.R1116H 0.491 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 53 18 25.35 98 0 0.00 TONSL 4796 genome.wustl.edu 37 8 145659414 145659414 + Missense_Mutation SNP G G T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 8 145659414 145659414 G T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3334 p.P1112T 0.087 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 25 13 34.21 38 0 0.00 TONSL 4796 genome.wustl.edu 37 8 145661528 145661528 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 145661528 145661528 G A SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.2288 p.S763L 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 7 9 56.25 20 0 0.00 TONSL 4796 genome.wustl.edu 37 8 145665491 145665491 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 145665491 145665491 C T SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.1393 p.E465K 0.225 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 56 42 42.86 114 0 0.00 TOP2A 7153 genome.wustl.edu 37 17 38547881 38547881 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38547881 38547881 C G SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known missense c.4144 p.D1382H 0.003 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC ENSG00000131747 26 19 42.22 19 0 0.00 TOP2A 7153 genome.wustl.edu 37 17 38556817 38556817 + Silent SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 38556817 38556817 A G SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known silent c.2763 p.I921 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC ENSG00000131747 25 4 13.79 42 0 0.00 TOP2A 7153 genome.wustl.edu 37 17 38562849 38562849 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 38562849 38562849 G C SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known silent c.1830 p.V610 1.000 superfamily_Topo_IIA_cen,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC ENSG00000131747 55 15 21.43 53 0 0.00 TOP2A 7153 genome.wustl.edu 37 17 38562885 38562885 + Missense_Mutation SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 38562885 38562885 C A SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known missense c.1794 p.W598C 1.000 superfamily_Topo_IIA_cen,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC ENSG00000131747 43 14 24.56 40 0 0.00 TOP2B 7155 genome.wustl.edu 37 3 25666254 25666254 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 25666254 25666254 G C SNP TOP2B ENST00000264331 human ensembl 70_37 -1 known missense c.2265 p.F755L 0.946 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2B HGNC ENSG00000077097 32 20 38.46 51 0 0.00 TOP2B 7155 genome.wustl.edu 37 3 25683865 25683865 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 25683865 25683865 C G SNP TOP2B ENST00000264331 human ensembl 70_37 -1 known missense c.343 p.D115H 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2B HGNC ENSG00000077097 28 16 36.36 40 0 0.00 TOP3A 7156 genome.wustl.edu 37 17 18181558 18181558 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 18181558 18181558 G A SNP TOP3A ENST00000321105 human ensembl 70_37 -1 known missense c.2258 p.S753L 0.505 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 29 7 19.44 30 0 0.00 TOP3A 7156 genome.wustl.edu 37 17 18194243 18194243 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 18194243 18194243 G A SNP TOP3A ENST00000321105 human ensembl 70_37 -1 known silent c.1380 p.I460 0.820 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 65 12 15.58 85 0 0.00 TOP3B 8940 genome.wustl.edu 37 22 22314109 22314109 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 22314109 22314109 C G SNP TOP3B ENST00000357179 human ensembl 70_37 -1 known splice_site c.1655-1 e14-1 1.000 - - - no_errors TOP3B HGNC ENSG00000100038 12 14 53.85 19 0 0.00 TOP3B 8940 genome.wustl.edu 37 22 22324757 22324757 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 22324757 22324757 C T SNP TOP3B ENST00000357179 human ensembl 70_37 -1 known missense c.406 p.V136I 0.997 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 42 19 30.65 39 0 0.00 TOPAZ1 375337 genome.wustl.edu 37 3 44283604 44283604 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 44283604 44283604 G A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.59 p.R20Q 0.005 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 30 6 16.67 64 0 0.00 TOPAZ1 375337 genome.wustl.edu 37 3 44283784 44283784 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 44283784 44283784 G A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.239 p.R80H 0.000 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 15 17 53.12 44 0 0.00 TOPAZ1 375337 genome.wustl.edu 37 3 44285783 44285783 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44285783 44285783 G T SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.1785 p.K595N 0.089 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 6 6 50.00 23 0 0.00 TOPAZ1 375337 genome.wustl.edu 37 3 44285827 44285827 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 44285827 44285827 C A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.1829 p.S610Y 0.920 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 10 9 47.37 19 0 0.00 TOPAZ1 375337 genome.wustl.edu 37 3 44332376 44332376 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44332376 44332376 G C SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known silent c.3795 p.S1265 0.998 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 8 6 40.00 11 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133327481 133327481 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 133327481 133327481 C A SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.4323 p.L1441F 0.732 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 70 15 17.65 43 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133342989 133342989 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133342989 133342989 G T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2835 p.F945L 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 23 22 48.89 39 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133347213 133347213 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 133347213 133347213 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2797 p.D933N 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 115 16 12.21 82 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133347256 133347256 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 133347256 133347256 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known silent c.2754 p.K918 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 89 48 35.04 97 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133347439 133347439 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 133347439 133347439 C A SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2659 p.A887S 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 69 26 27.37 72 0 0.00 TOPBP1 11073 genome.wustl.edu 37 3 133374143 133374143 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 133374143 133374143 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.733 p.E245K 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 54 22 28.95 33 0 0.00 TOPORS 10210 genome.wustl.edu 37 9 32542047 32542047 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 32542047 32542047 G A SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known nonsense c.2476 p.Q826* 0.646 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 49 18 26.87 70 0 0.00 TOPORS 10210 genome.wustl.edu 37 9 32542367 32542367 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 32542367 32542367 G A SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known missense c.2156 p.S719F 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 30 6 16.67 27 0 0.00 TOPORS 10210 genome.wustl.edu 37 9 32542823 32542823 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 32542823 32542823 G C SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known nonsense c.1700 p.S567* 0.958 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 16 5 23.81 14 0 0.00 TOPORS-AS1 100129250 genome.wustl.edu 37 9 32551295 32551295 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 32551295 32551295 C A SNP TOPORS-AS1 ENST00000453396 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOPORS-AS1 HGNC ENSG00000235453 66 40 37.74 40 0 0.00 TOPORS-AS1 100129250 genome.wustl.edu 37 9 32566511 32566511 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 32566511 32566511 G A SNP TOPORS-AS1 ENST00000425533 human ensembl 70_37 +1 known rna NULL NULL 0.900 - - - no_errors TOPORS-AS1 HGNC ENSG00000235453 19 9 32.14 31 0 0.00 TOR1A 1861 genome.wustl.edu 37 9 132576379 132576379 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 132576379 132576379 C G SNP TOR1A ENST00000351698 human ensembl 70_37 -1 known missense c.871 p.E291Q 0.018 pirsf_Torsin_subgr pfam_Torsin,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 361 54 12.98 392 0 0.00 TOR1AIP1 26092 genome.wustl.edu 37 1 179851995 179851995 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 179851995 179851995 G A SNP TOR1AIP1 ENST00000435319 human ensembl 70_37 +1 known missense c.358 p.E120K 0.004 NULL pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 89 40 31.01 138 0 0.00 TOR1AIP2 163590 genome.wustl.edu 37 1 179820219 179820219 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 179820219 179820219 G A SNP TOR1AIP2 ENST00000367612 human ensembl 70_37 -1 known missense c.314 p.S105L 0.055 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 116 17 12.78 101 0 0.00 TOR1B 27348 genome.wustl.edu 37 9 132566622 132566622 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 132566622 132566622 G C SNP TOR1B ENST00000486372 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors TOR1B HGNC ENSG00000136816 49 20 28.99 27 0 0.00 TOR1B 27348 genome.wustl.edu 37 9 132569559 132569559 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 132569559 132569559 C T SNP TOR1B ENST00000259339 human ensembl 70_37 +1 known silent c.558 p.I186 1.000 pfam_ATPase_AAA_core,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 125 40 24.10 119 0 0.00 TOR1B 27348 genome.wustl.edu 37 9 132569634 132569634 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 132569634 132569634 C T SNP TOR1B ENST00000259339 human ensembl 70_37 +1 known silent c.633 p.I211 1.000 pfam_ATPase_AAA_core,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 148 48 24.49 107 1 0.93 TOR2A 27433 genome.wustl.edu 37 9 130496650 130496650 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 130496650 130496650 G C SNP TOR2A ENST00000373284 human ensembl 70_37 -1 known silent c.345 p.L115 0.996 pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr,prints_Chaprnin_ClpA/B - no_errors TOR2A HGNC ENSG00000160404 18 11 37.93 19 0 0.00 TOR3A 64222 genome.wustl.edu 37 1 179054980 179054980 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 179054980 179054980 C T SNP TOR3A ENST00000367627 human ensembl 70_37 +1 known silent c.591 p.F197 1.000 pfam_Torsin pfam_Torsin - no_errors TOR3A HGNC ENSG00000186283 71 13 15.48 64 0 0.00 TOR4A 54863 genome.wustl.edu 37 9 140173556 140173556 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140173556 140173556 G A SNP TOR4A ENST00000357503 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_Torsin,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 19 8 29.63 8 0 0.00 TOR4A 54863 genome.wustl.edu 37 9 140173663 140173663 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 140173663 140173663 G C SNP TOR4A ENST00000357503 human ensembl 70_37 +1 known silent c.522 p.L174 1.000 pfam_Torsin pfam_Torsin,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 12 7 36.84 10 0 0.00 TOX 9760 genome.wustl.edu 37 8 59851877 59851877 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 59851877 59851877 G T SNP TOX ENST00000361421 human ensembl 70_37 -1 known missense c.395 p.S132Y 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC ENSG00000198846 66 12 15.38 83 0 0.00 TOX 9760 genome.wustl.edu 37 8 59872530 59872530 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 8 59872530 59872530 G A SNP TOX ENST00000361421 human ensembl 70_37 -1 known missense c.140 p.P47L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC ENSG00000198846 69 9 11.39 50 0 0.00 TOX 9760 genome.wustl.edu 37 8 59872531 59872531 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 59872531 59872531 G T SNP TOX ENST00000361421 human ensembl 70_37 -1 known missense c.139 p.P47T 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC ENSG00000198846 34 5 12.82 73 0 0.00 TOX2 84969 genome.wustl.edu 37 20 42635383 42635383 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 42635383 42635383 C T SNP TOX2 ENST00000341197 human ensembl 70_37 +1 known missense c.362 p.S121F 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX2 HGNC ENSG00000124191 18 11 37.93 34 0 0.00 TOX2 84969 genome.wustl.edu 37 20 42683061 42683061 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 42683061 42683061 A T SNP TOX2 ENST00000341197 human ensembl 70_37 +1 known missense c.774 p.R258S 0.997 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX2 HGNC ENSG00000124191 42 32 43.24 77 0 0.00 TOX3 27324 genome.wustl.edu 37 16 52473494 52473494 + Missense_Mutation SNP C C A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 52473494 52473494 C A SNP TOX3 ENST00000219746 human ensembl 70_37 -1 known missense c.1374 p.Q458H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 31 8 20.51 25 0 0.00 TOX3 27324 genome.wustl.edu 37 16 52498040 52498040 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 52498040 52498040 G A SNP TOX3 ENST00000219746 human ensembl 70_37 -1 known missense c.214 p.P72S 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 15 9 37.50 33 0 0.00 TOX4 9878 genome.wustl.edu 37 14 21961402 21961402 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21961402 21961402 G C SNP TOX4 ENST00000262709 human ensembl 70_37 +1 known missense c.1627 p.D543H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 24 12 33.33 31 0 0.00 TOX4 9878 genome.wustl.edu 37 14 21961414 21961414 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 21961414 21961414 G A SNP TOX4 ENST00000262709 human ensembl 70_37 +1 known missense c.1639 p.E547K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 15 5 25.00 18 0 0.00 TP53 7157 genome.wustl.edu 37 17 7572982 7572982 + Missense_Mutation SNP G G C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 17 7572982 7572982 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.1127 p.S376C 0.956 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 110 14 11.29 140 0 0.00 TP53 7157 genome.wustl.edu 37 17 7573977 7573977 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7573977 7573977 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.1050 p.L350 0.924 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 12 9 42.86 20 0 0.00 TP53 7157 genome.wustl.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 7574017 7574017 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.1010 p.R337H 0.896 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 18 9 33.33 24 0 0.00 TP53 7157 genome.wustl.edu 37 17 7576889 7576889 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7576889 7576889 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.957 p.K319N 0.998 pfam_p53_tetrameristn,superfamily_p53_tetrameristn pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 35 30 46.15 103 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577065 7577065 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577065 7577065 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.873 p.K291 0.998 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 13 20 60.61 67 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577077 7577077 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7577077 7577077 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.861 p.E287D 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 25 16 39.02 46 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577077 7577077 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577077 7577077 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.861 p.E287 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 13 17 56.67 65 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 7577085 7577085 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.853 p.E285K 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 29 16 35.56 54 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577085 7577085 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.853 p.E285K 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 12 16 57.14 59 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7577099 7577099 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.839 p.R280K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 20 9 31.03 39 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7577127 7577127 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.811 p.E271K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 23 17 42.50 30 0 0.00 TP53 7157 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 7577568 7577568 C A SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.713 p.C238F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 65 29 30.85 64 0 0.00 TP53 7157 genome.wustl.edu 37 17 7578269 7578269 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7578269 7578269 G A SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.580 p.L194F 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 22 25 53.19 54 0 0.00 TP53 7157 genome.wustl.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 7578382 7578382 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known nonsense c.548 p.S183* 0.011 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 29 35 54.69 65 0 0.00 TP53 7157 genome.wustl.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 7578534 7578534 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.396 p.K132N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 7 25 78.12 43 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43700219 43700219 + Frame_Shift_Del DEL G G - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 43700219 43700219 G - DEL TP53BP1 ENST00000382044 human ensembl 70_37 -1 known frame_shift_del c.5668 p.L1890fs 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 18 22 55.00 50 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43701248 43701248 + Missense_Mutation SNP C C T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 15 43701248 43701248 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.5447 p.R1816Q 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 22 16 42.11 42 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43705389 43705389 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43705389 43705389 T C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.5233 p.T1745A 0.963 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 28 22 44.00 49 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43724676 43724676 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43724676 43724676 C G SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.3391 p.E1131Q 0.027 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 35 15 30.00 52 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43738643 43738643 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 43738643 43738643 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2982 p.M994I 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 30 7 18.92 34 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43748156 43748156 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 43748156 43748156 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2650 p.A884T 0.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 26 7 21.21 35 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43748527 43748527 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 43748527 43748527 C A SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2279 p.S760I 0.983 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 75 57 42.86 78 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43762075 43762075 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 43762075 43762075 G C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.1370 p.S457C 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 11 4 26.67 17 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43783907 43783907 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 43783907 43783907 G C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.331 p.Q111E 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 40 26 39.39 59 0 0.00 TP53BP1 7158 genome.wustl.edu 37 15 43784623 43784623 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 43784623 43784623 G A SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known silent c.51 p.F17 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 14 2 12.50 24 0 0.00 TP53BP2 7159 genome.wustl.edu 37 1 223971928 223971928 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 223971928 223971928 C A SNP TP53BP2 ENST00000343537 human ensembl 70_37 -1 known missense c.3252 p.M1084I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 57 40 41.24 100 0 0.00 TP53BP2 7159 genome.wustl.edu 37 1 223987747 223987747 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 1 223987747 223987747 C T SNP TP53BP2 ENST00000343537 human ensembl 70_37 -1 known missense c.1339 p.D447N 0.790 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 21 7 25.00 22 0 0.00 TP53I11 9537 genome.wustl.edu 37 11 44959840 44959840 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 44959840 44959840 G A SNP TP53I11 ENST00000354556 human ensembl 70_37 -1 known missense c.47 p.T16M 1.000 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 52 28 35.00 127 0 0.00 TP53I3 9540 genome.wustl.edu 37 2 24300579 24300579 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 24300579 24300579 G C SNP TP53I3 ENST00000238721 human ensembl 70_37 -1 known missense c.869 p.S290C 0.988 smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 - no_errors TP53I3 HGNC ENSG00000115129 29 21 42.00 61 0 0.00 TP53INP1 94241 genome.wustl.edu 37 8 95952425 95952425 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 95952425 95952425 C T SNP TP53INP1 ENST00000342697 human ensembl 70_37 -1 known missense c.136 p.E46K 1.000 NULL NULL - no_errors TP53INP1 HGNC ENSG00000164938 43 12 21.82 64 0 0.00 TP53INP2 58476 genome.wustl.edu 37 20 33297290 33297290 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 33297290 33297290 C G SNP TP53INP2 ENST00000374809 human ensembl 70_37 +1 known silent c.375 p.L125 0.678 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 23 30 56.60 44 0 0.00 TP53RK 112858 genome.wustl.edu 37 20 45315590 45315590 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45315590 45315590 G C SNP TP53RK ENST00000372114 human ensembl 70_37 -1 known missense c.564 p.F188L 0.997 pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32 - no_errors TP53RK HGNC ENSG00000172315 60 14 18.92 49 0 0.00 TP53TG3B 729355 genome.wustl.edu 37 16 32264789 32264789 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 32264789 32264789 G C SNP TP53TG3B ENST00000354614 human ensembl 70_37 +1 known missense c.115 p.D39H 0.446 NULL NULL - no_errors TP53TG3 Uniprot_genename ENSG00000205456 18 6 25.00 29 0 0.00 TP53TG5 27296 genome.wustl.edu 37 20 44002607 44002607 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 44002607 44002607 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known missense c.813 p.W271C 0.004 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 30 13 30.23 46 0 0.00 TP53TG5 27296 genome.wustl.edu 37 20 44002619 44002619 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 44002619 44002619 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known silent c.801 p.A267 0.000 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 31 10 24.39 40 0 0.00 TP53TG5 27296 genome.wustl.edu 37 20 44002626 44002626 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44002626 44002626 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known missense c.794 p.R265T 0.001 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 18 15 45.45 39 0 0.00 TP63 8626 genome.wustl.edu 37 3 189526299 189526299 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 3 189526299 189526299 A T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.563 p.K188M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 65 120 64.86 70 0 0.00 TP63 8626 genome.wustl.edu 37 3 189582097 189582097 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 189582097 189582097 C T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.656 p.P219L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 27 5 15.62 53 0 0.00 TP63 8626 genome.wustl.edu 37 3 189585726 189585726 + Silent SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 189585726 189585726 C A SNP TP63 ENST00000264731 human ensembl 70_37 +1 known silent c.987 p.T329 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 30 16 34.78 23 0 0.00 TP63 8626 genome.wustl.edu 37 3 189586422 189586422 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 189586422 189586422 G C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.1046 p.G349A 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 70 8 10.26 59 0 0.00 TP63 8626 genome.wustl.edu 37 3 189586483 189586483 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 189586483 189586483 G C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.1107 p.K369N 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 57 23 28.75 35 0 0.00 TP63 8626 genome.wustl.edu 37 3 189608648 189608648 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 189608648 189608648 C T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known nonsense c.1723 p.Q575* 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 164 43 20.57 69 0 0.00 TP63 8626 genome.wustl.edu 37 3 189612142 189612142 + Nonsense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 189612142 189612142 G T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known nonsense c.1894 p.E632* 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 37 5 11.90 30 0 0.00 TP73 7161 genome.wustl.edu 37 1 3598993 3598993 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 3598993 3598993 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.64 p.L22 0.986 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 58 19 24.68 82 0 0.00 TP73 7161 genome.wustl.edu 37 1 3624293 3624293 + Nonsense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 3624293 3624293 G T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known nonsense c.367 p.G123* 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 10 125 92.59 57 0 0.00 TP73 7161 genome.wustl.edu 37 1 3638614 3638614 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 3638614 3638614 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.459 p.C153 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 37 8 17.78 43 0 0.00 TP73 7161 genome.wustl.edu 37 1 3638720 3638720 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 3638720 3638720 G A SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.565 p.D189N 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 22 13 37.14 37 0 0.00 TP73 7161 genome.wustl.edu 37 1 3638722 3638724 + In_Frame_Del DEL CGT CGT - TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 CGT CGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 3638722 3638724 CGT - DEL TP73 ENST00000378295 human ensembl 70_37 +1 known in_frame_del c.567_569 p.V191in_frame_del 0.994:0.999:0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 18 8 30.77 30 0 0.00 TP73 7161 genome.wustl.edu 37 1 3638726 3638726 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 3638726 3638726 G A SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.571 p.V191M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 24 24 50.00 37 0 0.00 TP73 7161 genome.wustl.edu 37 1 3639969 3639969 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 3639969 3639969 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.668 p.S223L 0.369 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 30 22 42.31 49 0 0.00 TP73 7161 genome.wustl.edu 37 1 3639972 3639973 + Frame_Shift_Ins INS - - GTAT TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 3639972 3639973 - GTAT INS TP73 ENST00000378295 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.D227fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 8 31 79.49 28 0 0.00 TP73 7161 genome.wustl.edu 37 1 3645929 3645929 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 3645929 3645929 G T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 39 28 41.79 29 0 0.00 TP73 7161 genome.wustl.edu 37 1 3649571 3649571 + Silent SNP C C T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 3649571 3649571 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.1839 p.G613 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 11 3 21.43 10 0 0.00 TP73-AS1 57212 genome.wustl.edu 37 1 3653920 3653920 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 3653920 3653920 T C SNP TP73-AS1 ENST00000418088 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TP73-AS1 HGNC ENSG00000227372 57 42 42.42 24 0 0.00 TP73-AS1 57212 genome.wustl.edu 37 1 3656076 3656076 + RNA SNP T T C TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 3656076 3656076 T C SNP TP73-AS1 ENST00000452079 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TP73-AS1 HGNC ENSG00000227372 47 14 22.95 22 0 0.00 TPBG 7162 genome.wustl.edu 37 6 83075876 83075876 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 83075876 83075876 C T SNP TPBG ENST00000369750 human ensembl 70_37 +1 known missense c.1198 p.H400Y 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 22 4 15.38 32 0 0.00 TPCN1 53373 genome.wustl.edu 37 12 113730871 113730871 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 113730871 113730871 G C SNP TPCN1 ENST00000541517 human ensembl 70_37 +1 known missense c.2462 p.R821T 0.002 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 39 8 17.02 51 0 0.00 TPCN2 219931 genome.wustl.edu 37 11 68822655 68822655 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 68822655 68822655 C T SNP TPCN2 ENST00000294309 human ensembl 70_37 +1 known silent c.264 p.F88 0.015 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 52 29 35.80 74 0 0.00 TPCN2 219931 genome.wustl.edu 37 11 68855399 68855399 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 68855399 68855399 C T SNP TPCN2 ENST00000294309 human ensembl 70_37 +1 known missense c.2237 p.P746L 0.987 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 3 6 66.67 17 0 0.00 TPD52 7163 genome.wustl.edu 37 8 80976814 80976814 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 8 80976814 80976814 C G SNP TPD52 ENST00000537855 human ensembl 70_37 -1 known missense c.154 p.D52H 1.000 pfam_TPD52 pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like - no_errors TPD52 HGNC ENSG00000076554 87 22 20.18 36 0 0.00 TPD52L1 7164 genome.wustl.edu 37 6 125541297 125541297 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 125541297 125541297 C G SNP TPD52L1 ENST00000534000 human ensembl 70_37 +1 known silent c.93 p.L31 0.970 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 129 29 18.35 101 0 0.00 TPD52L1 7164 genome.wustl.edu 37 6 125573171 125573171 + Silent SNP T T C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 6 125573171 125573171 T C SNP TPD52L1 ENST00000304877 human ensembl 70_37 +1 novel silent c.390 p.S130 0.993 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 27 4 12.90 24 0 0.00 TPD52L2 7165 genome.wustl.edu 37 20 62507208 62507208 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 62507208 62507208 G C SNP TPD52L2 ENST00000217121 human ensembl 70_37 +1 known missense c.354 p.E118D 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 33 9 21.43 59 0 0.00 TPD52L2 7165 genome.wustl.edu 37 20 62514094 62514094 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 62514094 62514094 C T SNP TPD52L2 ENST00000217121 human ensembl 70_37 +1 known missense c.397 p.L133F 0.961 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 30 16 34.78 29 0 0.00 TPD52L3 89882 genome.wustl.edu 37 9 6328621 6328621 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 6328621 6328621 C G SNP TPD52L3 ENST00000344545 human ensembl 70_37 +1 known missense c.26 p.S9C 0.001 pfam_TPD52 pfam_TPD52 - no_errors TPD52L3 HGNC ENSG00000170777 25 11 30.56 47 0 0.00 TPD52L3 89882 genome.wustl.edu 37 9 6328703 6328703 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 6328703 6328703 C G SNP TPD52L3 ENST00000344545 human ensembl 70_37 +1 known silent c.108 p.L36 0.001 pfam_TPD52 pfam_TPD52 - no_errors TPD52L3 HGNC ENSG00000170777 48 26 35.14 32 0 0.00 TPGS2 25941 genome.wustl.edu 37 18 34387880 34387880 + Missense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 18 34387880 34387880 C T SNP TPGS2 ENST00000334295 human ensembl 70_37 -1 known missense c.183 p.M61I 0.997 smart_Cell_wall_assmbl_KNR4-like smart_Cell_wall_assmbl_KNR4-like - no_errors TPGS2 HGNC ENSG00000134779 55 18 24.66 58 0 0.00 TPH1 7166 genome.wustl.edu 37 11 18042628 18042628 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 18042628 18042628 C G SNP TPH1 ENST00000341556 human ensembl 70_37 -1 known missense c.1245 p.K415N 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 47 22 31.88 70 0 0.00 TPH1 7166 genome.wustl.edu 37 11 18050790 18050790 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 18050790 18050790 A G SNP TPH1 ENST00000341556 human ensembl 70_37 -1 known silent c.589 p.L197 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 79 23 22.55 86 0 0.00 TPH1 7166 genome.wustl.edu 37 11 18057643 18057643 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18057643 18057643 C A SNP TPH1 ENST00000341556 human ensembl 70_37 -1 known missense c.164 p.R55I 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 27 15 35.71 68 0 0.00 TPI1 7167 genome.wustl.edu 37 12 6976718 6976718 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6976718 6976718 C T SNP TPI1 ENST00000229270 human ensembl 70_37 +1 known silent c.99 p.L33 0.000 NULL pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 21 20 48.78 35 0 0.00 TPM2 7169 genome.wustl.edu 37 9 35683240 35683241 + Splice_Site INS - - G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 35683240 35683241 - G INS TPM2 ENST00000360958 human ensembl 70_37 -1 known splice_site_ins c.773-3_773-2 e9-2 1.000:1.000 - - - no_errors TPM2 HGNC ENSG00000198467 57 10 14.93 86 0 0.00 TPM2 7169 genome.wustl.edu 37 9 35684850 35684850 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 35684850 35684850 G A SNP TPM2 ENST00000471212 human ensembl 70_37 -1 known rna NULL NULL 0.439 - - - no_errors TPM2 HGNC ENSG00000198467 25 21 45.65 40 0 0.00 TPM2 7169 genome.wustl.edu 37 9 35685308 35685308 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 35685308 35685308 C T SNP TPM2 ENST00000378300 human ensembl 70_37 -1 known missense c.521 p.G174E 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 84 11 11.58 134 0 0.00 TPM2 7169 genome.wustl.edu 37 9 35685532 35685532 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35685532 35685532 C T SNP TPM2 ENST00000378300 human ensembl 70_37 -1 known missense c.391 p.E131K 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 17 17 50.00 46 0 0.00 TPM3 7170 genome.wustl.edu 37 1 154130022 154130022 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 154130022 154130022 C T SNP TPM3 ENST00000312970 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TPM3 HGNC ENSG00000143549 49 20 28.99 77 0 0.00 TPM3 7170 genome.wustl.edu 37 1 154143796 154143796 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 154143796 154143796 G C SNP TPM3 ENST00000469717 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 26 8 23.53 28 0 0.00 TPM3 7170 genome.wustl.edu 37 1 154145294 154145294 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 154145294 154145294 G A SNP TPM3 ENST00000469717 human ensembl 70_37 -1 known rna NULL NULL 0.073 - - - no_errors TPM3 HGNC ENSG00000143549 21 13 38.24 21 0 0.00 TPM3P9 147804 genome.wustl.edu 37 19 53945480 53945480 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53945480 53945480 G A SNP TPM3P9 ENST00000424846 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPM3P9 HGNC ENSG00000241015 75 31 29.25 78 0 0.00 TPM4 7171 genome.wustl.edu 37 19 16192822 16192822 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16192822 16192822 G A SNP TPM4 ENST00000344824 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 27 20 42.55 64 0 0.00 TPO 7173 genome.wustl.edu 37 2 1426846 1426846 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 1426846 1426846 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.124 p.V42I 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 37 22 37.29 59 0 0.00 TPO 7173 genome.wustl.edu 37 2 1440117 1440117 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 1440117 1440117 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.443 p.A148V 0.825 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 27 18 40.00 49 0 0.00 TPO 7173 genome.wustl.edu 37 2 1457477 1457477 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 1457477 1457477 G T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.494 p.R165I 0.006 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 24 12 33.33 27 0 0.00 TPO 7173 genome.wustl.edu 37 2 1457571 1457571 + Silent SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 1457571 1457571 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.588 p.L196 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 32 10 23.81 38 0 0.00 TPO 7173 genome.wustl.edu 37 2 1491622 1491622 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 1491622 1491622 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.1627 p.L543F 0.162 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 23 12 34.29 50 0 0.00 TPO 7173 genome.wustl.edu 37 2 1491726 1491726 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 1491726 1491726 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.1731 p.S577 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 19 12 38.71 40 0 0.00 TPO 7173 genome.wustl.edu 37 2 1497747 1497747 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1497747 1497747 C G SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.1942 p.R648G 0.913 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 26 6 18.75 29 0 0.00 TPO 7173 genome.wustl.edu 37 2 1500418 1500418 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 1500418 1500418 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.2267 p.C756Y 0.653 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 161 26 13.83 109 0 0.00 TPO 7173 genome.wustl.edu 37 2 1544402 1544402 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 1544402 1544402 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.2655 p.S885 0.001 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 25 6 19.35 41 0 0.00 TPP2 7174 genome.wustl.edu 37 13 103257239 103257239 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 13 103257239 103257239 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.262 p.E88K 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 29 12 29.27 69 0 0.00 TPP2 7174 genome.wustl.edu 37 13 103268843 103268843 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 103268843 103268843 C G SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.488 p.S163C 0.998 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 29 4 12.12 43 0 0.00 TPP2 7174 genome.wustl.edu 37 13 103279418 103279418 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 103279418 103279418 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.841 p.E281K 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 67 8 10.67 88 0 0.00 TPP2 7174 genome.wustl.edu 37 13 103282469 103282469 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 103282469 103282469 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.1168 p.D390N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 54 8 12.90 37 0 0.00 TPP2 7174 genome.wustl.edu 37 13 103309409 103309409 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 103309409 103309409 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.2956 p.V986I 0.997 NULL pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 33 5 13.16 27 0 0.00 TPPP 11076 genome.wustl.edu 37 5 666135 666135 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 666135 666135 C T SNP TPPP ENST00000360578 human ensembl 70_37 -1 known missense c.415 p.E139K 0.997 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 72 8 10.00 70 0 0.00 TPR 7175 genome.wustl.edu 37 1 186286656 186286656 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186286656 186286656 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.6898 p.L2300V 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 57 23 28.75 60 0 0.00 TPR 7175 genome.wustl.edu 37 1 186292841 186292841 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 186292841 186292841 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.6274 p.Q2092E 0.998 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 84 10 10.64 66 0 0.00 TPR 7175 genome.wustl.edu 37 1 186292910 186292910 + Nonsense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 186292910 186292910 G A SNP TPR ENST00000367478 human ensembl 70_37 -1 known nonsense c.6205 p.R2069* 0.989 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 140 69 33.01 188 0 0.00 TPR 7175 genome.wustl.edu 37 1 186295304 186295304 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 186295304 186295304 C A SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5953 p.G1985C 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 13 4 23.53 35 0 0.00 TPR 7175 genome.wustl.edu 37 1 186296624 186296624 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 186296624 186296624 C G SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5857 p.E1953Q 0.995 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 41 37 47.44 53 0 0.00 TPR 7175 genome.wustl.edu 37 1 186296657 186296657 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 186296657 186296657 C A SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5824 p.D1942Y 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 44 17 27.87 64 0 0.00 TPR 7175 genome.wustl.edu 37 1 186302371 186302371 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 186302371 186302371 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5338 p.Q1780E 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 184 51 21.61 171 0 0.00 TPR 7175 genome.wustl.edu 37 1 186303601 186303601 + Missense_Mutation SNP T T G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 186303601 186303601 T G SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5038 p.K1680Q 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 21 5 19.23 71 0 0.00 TPR 7175 genome.wustl.edu 37 1 186326620 186326620 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 186326620 186326620 C T SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.1633 p.E545K 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 151 45 22.96 148 0 0.00 TPR 7175 genome.wustl.edu 37 1 186342529 186342529 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 186342529 186342529 C T SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.218 p.R73Q 0.994 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 16 3 15.79 19 0 0.00 TPRA1 131601 genome.wustl.edu 37 3 127294479 127294479 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 127294479 127294479 C T SNP TPRA1 ENST00000465915 human ensembl 70_37 -1 known rna NULL NULL 0.330 - - - no_errors TPRA1 HGNC ENSG00000163870 17 10 37.04 19 0 0.00 TPRG1 285386 genome.wustl.edu 37 3 189033328 189033328 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 189033328 189033328 G A SNP TPRG1 ENST00000481307 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPRG1 HGNC ENSG00000188001 91 26 22.22 100 0 0.00 TPRG1 285386 genome.wustl.edu 37 3 189038526 189038526 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 189038526 189038526 G C SNP TPRG1 ENST00000345063 human ensembl 70_37 +1 known missense c.745 p.E249Q 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 52 40 43.48 80 0 0.00 TPRN 286262 genome.wustl.edu 37 9 140086993 140086993 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140086993 140086993 C G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.1876 p.E626Q 0.300 NULL NULL - no_errors TPRN HGNC ENSG00000176058 28 21 42.86 40 0 0.00 TPRN 286262 genome.wustl.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 140087025 140087027 TCC - DEL TPRN ENST00000409012 human ensembl 70_37 -1 known in_frame_del c.1844_1842 p.E618in_frame_del 0.745:0.829:0.911 NULL NULL - no_errors TPRN HGNC ENSG00000176058 27 7 20.59 34 0 0.00 TPRN 286262 genome.wustl.edu 37 9 140093513 140093513 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 140093513 140093513 C G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.1651 p.E551Q 1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 70 24 25.53 105 0 0.00 TPRN 286262 genome.wustl.edu 37 9 140094220 140094220 + Missense_Mutation SNP A A G TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 140094220 140094220 A G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.944 p.L315P 0.874 NULL NULL - no_errors TPRN HGNC ENSG00000176058 69 13 15.85 70 0 0.00 TPRX1 284355 genome.wustl.edu 37 19 48305209 48305209 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 48305209 48305209 G A SNP TPRX1 ENST00000535759 human ensembl 70_37 -1 known silent c.1350 p.F450 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC ENSG00000178928 64 10 13.51 68 0 0.00 TPRXL 348825 genome.wustl.edu 37 3 14106354 14106354 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 14106354 14106354 C T SNP TPRXL ENST00000326972 human ensembl 70_37 +1 known silent c.678 p.S226 0.580 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 19 5 20.83 25 0 0.00 TPSAB1 7177 genome.wustl.edu 37 16 1291639 1291639 + Silent SNP A A G TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 16 1291639 1291639 A G SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known silent c.438 p.S146 0.005 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 54 6 10.00 49 0 0.00 TPSAB1 7177 genome.wustl.edu 37 16 1291685 1291685 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 1291685 1291685 G A SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.484 p.D162N 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 31 9 22.50 54 0 0.00 TPSAB1 7177 genome.wustl.edu 37 16 1292149 1292149 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 1292149 1292149 G A SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.736 p.E246K 0.008 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 28 10 26.32 29 0 0.00 TPSAB1 7177 genome.wustl.edu 37 16 1292188 1292188 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1292188 1292188 C G SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.775 p.R259G 0.783 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 28 13 31.71 75 0 0.00 TPSB2 64499 genome.wustl.edu 37 16 1277336 1277336 + RNA SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 16 1277336 1277336 G A SNP TPSB2 ENST00000339687 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TPSB2 HGNC ENSG00000197253 54 32 37.21 32 0 0.00 TPSD1 23430 genome.wustl.edu 37 16 1306681 1306681 + Missense_Mutation SNP A A C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 1306681 1306681 A C SNP TPSD1 ENST00000211076 human ensembl 70_37 +1 known missense c.247 p.V83L 0.026 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSD1 HGNC ENSG00000095917 62 8 11.43 111 0 0.00 TPSG1 25823 genome.wustl.edu 37 16 1272918 1272918 + Splice_Site SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 1272918 1272918 C A SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known splice_site c.246-1 e4-1 0.758 - - - no_errors TPSG1 HGNC ENSG00000116176 26 13 33.33 71 0 0.00 TPSG1 25823 genome.wustl.edu 37 16 1273501 1273501 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 1273501 1273501 C T SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known missense c.167 p.R56H 0.534 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 10 4 28.57 8 0 0.00 TPSG1 25823 genome.wustl.edu 37 16 1274609 1274609 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 1274609 1274609 C A SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known missense c.66 p.L22F 0.010 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 81 22 21.36 109 0 0.00 TPST1 8460 genome.wustl.edu 37 7 65821815 65821815 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 65821815 65821815 G A SNP TPST1 ENST00000304842 human ensembl 70_37 +1 known missense c.1099 p.E367K 0.980 NULL pfam_Sulfotransferase_dom - no_errors TPST1 HGNC ENSG00000169902 24 15 38.46 54 0 0.00 TPST2 8459 genome.wustl.edu 37 22 26936758 26936758 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 26936758 26936758 G A SNP TPST2 ENST00000338754 human ensembl 70_37 -1 known missense c.839 p.S280F 1.000 NULL pfam_Sulfotransferase_dom - no_errors TPST2 HGNC ENSG00000128294 14 15 51.72 17 0 0.00 TPST2 8459 genome.wustl.edu 37 22 26937096 26937096 + Silent SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 22 26937096 26937096 G T SNP TPST2 ENST00000338754 human ensembl 70_37 -1 known silent c.501 p.V167 0.936 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors TPST2 HGNC ENSG00000128294 73 18 19.78 61 0 0.00 TPST2 8459 genome.wustl.edu 37 22 26937206 26937206 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 26937206 26937206 C T SNP TPST2 ENST00000338754 human ensembl 70_37 -1 known missense c.391 p.E131K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors TPST2 HGNC ENSG00000128294 23 11 32.35 20 0 0.00 TPT1-AS1 100190939 genome.wustl.edu 37 13 45953898 45953898 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 45953898 45953898 C G SNP TPT1-AS1 ENST00000405697 human ensembl 70_37 +1 known rna NULL NULL 0.056 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 4 2 33.33 8 0 0.00 TPT1-AS1 100190939 genome.wustl.edu 37 13 45963874 45963874 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 45963874 45963874 A C SNP TPT1-AS1 ENST00000405697 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 29 11 27.50 45 0 0.00 TPT1-AS1 100190939 genome.wustl.edu 37 13 45965226 45965226 + RNA SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 45965226 45965226 C G SNP TPT1-AS1 ENST00000379050 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 144 45 23.81 144 0 0.00 TPT1-AS1 100190939 genome.wustl.edu 37 13 45965271 45965271 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 45965271 45965271 G A SNP TPT1-AS1 ENST00000379050 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 88 32 26.67 131 0 0.00 TPTE 7179 genome.wustl.edu 37 21 10906875 10906875 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 10906875 10906875 C A SNP TPTE ENST00000415664 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TPTE HGNC ENSG00000166157 54 11 16.92 122 0 0.00 TPTE 7179 genome.wustl.edu 37 21 10942925 10942927 + In_Frame_Del DEL CTT CTT - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 10942925 10942927 CTT - DEL TPTE ENST00000361285 human ensembl 70_37 -1 known in_frame_del c.662_660 p.R222in_frame_del 1.000:1.000:1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 138 25 15.34 118 0 0.00 TPTE 7179 genome.wustl.edu 37 21 10942949 10942949 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 21 10942949 10942949 C T SNP TPTE ENST00000361285 human ensembl 70_37 -1 known missense c.638 p.R213K 1.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 84 11 11.58 87 0 0.00 TPTE 7179 genome.wustl.edu 37 21 10996072 10996072 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 10996072 10996072 G A SNP TPTE ENST00000415664 human ensembl 70_37 -1 known rna NULL NULL 0.933 - - - no_errors TPTE HGNC ENSG00000166157 172 20 10.42 307 0 0.00 TPTE2 93492 genome.wustl.edu 37 13 20000617 20000617 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 20000617 20000617 A G SNP TPTE2 ENST00000382977 human ensembl 70_37 -1 known missense c.1343 p.V448A 0.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 37 15 28.85 90 0 0.00 TPTE2P6 374491 genome.wustl.edu 37 13 25160920 25160920 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 25160920 25160920 A C SNP TPTE2P6 ENST00000440905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTE2P6 HGNC ENSG00000205822 29 17 36.96 68 0 0.00 TPTE2P6 374491 genome.wustl.edu 37 13 25171562 25171562 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 25171562 25171562 C T SNP TPTE2P6 ENST00000440905 human ensembl 70_37 +1 known rna NULL NULL 0.234 - - - no_errors TPTE2P6 HGNC ENSG00000205822 44 28 38.89 82 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17082954 17082954 + RNA SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 22 17082954 17082954 G C SNP TPTEP1 ENST00000400593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 25 7 21.88 34 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17082969 17082969 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 17082969 17082969 G A SNP TPTEP1 ENST00000400593 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors TPTEP1 HGNC ENSG00000100181 20 4 16.67 34 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17117949 17117949 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 17117949 17117949 G A SNP TPTEP1 ENST00000383140 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTEP1 HGNC ENSG00000100181 23 13 36.11 69 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17119509 17119509 + RNA SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 17119509 17119509 G T SNP TPTEP1 ENST00000383140 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 34 42 55.26 67 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17131536 17131537 + RNA INS - - CTG TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 17131536 17131537 - CTG INS TPTEP1 ENST00000426585 human ensembl 70_37 +1 known rna NULL NULL 0.999:0.999 - - - no_errors TPTEP1 HGNC ENSG00000100181 6 3 33.33 17 0 0.00 TPTEP1 387590 genome.wustl.edu 37 22 17131536 17131537 + RNA INS - - CTG TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 22 17131536 17131537 - CTG INS TPTEP1 ENST00000426585 human ensembl 70_37 +1 known rna NULL NULL 0.999:0.999 - - - no_errors TPTEP1 HGNC ENSG00000100181 10 4 28.57 15 0 0.00 TPX2 22974 genome.wustl.edu 37 20 30371595 30371595 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 30371595 30371595 C T SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known silent c.1392 p.T464 0.997 pfam_TPX2_importin pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC ENSG00000088325 113 14 11.02 120 0 0.00 TPX2 22974 genome.wustl.edu 37 20 30385276 30385276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 30385276 30385276 C G SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known missense c.2011 p.Q671E 1.000 NULL pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC ENSG00000088325 189 60 24.00 263 0 0.00 TPX2 22974 genome.wustl.edu 37 20 30385276 30385276 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 30385276 30385276 C T SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known nonsense c.2011 p.Q671* 1.000 NULL pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC ENSG00000088325 34 18 34.62 40 0 0.00 TRA2A 29896 genome.wustl.edu 37 7 23545179 23545179 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 23545179 23545179 C T SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known silent c.848 p.*283 0.971 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 15 4 21.05 29 0 0.00 TRA2A 29896 genome.wustl.edu 37 7 23552514 23552514 + Missense_Mutation SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 23552514 23552514 T C SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.524 p.E175G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 23 48 67.61 40 0 0.00 TRA2A 29896 genome.wustl.edu 37 7 23552514 23552514 + Missense_Mutation SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 7 23552514 23552514 T C SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.524 p.E175G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 37 53 58.24 36 0 0.00 TRA2A 29896 genome.wustl.edu 37 7 23556088 23556088 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 23556088 23556088 G C SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.230 p.S77C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 40 22 35.48 56 0 0.00 TRA2A 29896 genome.wustl.edu 37 7 23561455 23561455 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 23561455 23561455 G A SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.41 p.S14F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 44 5 10.20 55 0 0.00 TRA2B 6434 genome.wustl.edu 37 3 185641776 185641776 + RNA DEL G G - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 185641776 185641776 G - DEL TRA2B ENST00000465245 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors TRA2B HGNC ENSG00000136527 16 9 36.00 13 0 0.00 TRA2B 6434 genome.wustl.edu 37 3 185643310 185643310 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 185643310 185643310 C T SNP TRA2B ENST00000453386 human ensembl 70_37 -1 known missense c.275 p.R92K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 41 7 14.58 47 0 0.00 TRA2B 6434 genome.wustl.edu 37 3 185655769 185655769 + RNA SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 185655769 185655769 C G SNP TRA2B ENST00000465245 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 24 5 17.24 31 0 0.00 TRABD2A 129293 genome.wustl.edu 37 2 85051106 85051106 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 85051106 85051106 G A SNP TRABD2A ENST00000409520 human ensembl 70_37 -1 known silent c.1305 p.F435 0.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 41 17 29.31 48 0 0.00 TRABD2A 129293 genome.wustl.edu 37 2 85069129 85069129 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 85069129 85069129 G A SNP TRABD2A ENST00000409520 human ensembl 70_37 -1 known silent c.672 p.V224 0.951 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 32 4 11.11 36 0 0.00 TRABD2B 388630 genome.wustl.edu 37 1 48231630 48231630 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 48231630 48231630 C T SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.1498 p.A500T 0.000 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC ENSG00000204018 111 60 34.88 190 0 0.00 TRABD2B 388630 genome.wustl.edu 37 1 48240993 48240993 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 48240993 48240993 C T SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.1198 p.D400N 1.000 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC ENSG00000204018 12 6 33.33 33 0 0.00 TRABD2B 388630 genome.wustl.edu 37 1 48460235 48460235 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 48460235 48460235 C A SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.137 p.R46L 0.988 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC ENSG00000204018 12 4 25.00 12 0 0.00 TRAF1 7185 genome.wustl.edu 37 9 123676541 123676541 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 123676541 123676541 G A SNP TRAF1 ENST00000373887 human ensembl 70_37 -1 known missense c.266 p.P89L 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 31 14 31.11 29 0 0.00 TRAF2 7186 genome.wustl.edu 37 9 139796834 139796834 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 139796834 139796834 G T SNP TRAF2 ENST00000482854 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAF2 HGNC ENSG00000127191 16 4 20.00 21 0 0.00 TRAF2 7186 genome.wustl.edu 37 9 139804386 139804386 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139804386 139804386 C T SNP TRAF2 ENST00000359662 human ensembl 70_37 +1 known silent c.699 p.V233 1.000 pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 23 13 36.11 39 0 0.00 TRAF2 7186 genome.wustl.edu 37 9 139804464 139804464 + RNA SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139804464 139804464 C A SNP TRAF2 ENST00000474950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAF2 HGNC ENSG00000127191 9 7 43.75 23 0 0.00 TRAF2 7186 genome.wustl.edu 37 9 139818343 139818343 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139818343 139818343 G A SNP TRAF2 ENST00000359662 human ensembl 70_37 +1 known missense c.1334 p.R445H 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 45 28 38.36 85 0 0.00 TRAF3 7187 genome.wustl.edu 37 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 103336564 103336564 C T SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.26 p.S9F 0.958 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 60 14 18.92 57 0 0.00 TRAF3 7187 genome.wustl.edu 37 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 103336564 103336564 C T SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.26 p.S9F 0.958 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 22 9 29.03 26 0 0.00 TRAF3 7187 genome.wustl.edu 37 14 103369593 103369593 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 103369593 103369593 G A SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.962 p.R321Q 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 81 13 13.83 83 0 0.00 TRAF3IP1 26146 genome.wustl.edu 37 2 239237349 239237349 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 239237349 239237349 G A SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.377 p.R126Q 1.000 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC ENSG00000204104 53 14 20.90 32 0 0.00 TRAF3IP1 26146 genome.wustl.edu 37 2 239237349 239237349 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 239237349 239237349 G A SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.377 p.R126Q 1.000 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC ENSG00000204104 55 12 17.91 40 0 0.00 TRAF3IP1 26146 genome.wustl.edu 37 2 239306205 239306205 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 239306205 239306205 C T SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.1795 p.P599S 0.930 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC ENSG00000204104 25 15 37.50 29 0 0.00 TRAF3IP2 10758 genome.wustl.edu 37 6 111912597 111912597 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111912597 111912597 G C SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known silent c.720 p.L240 0.640 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 14 8 36.36 18 0 0.00 TRAF3IP2 10758 genome.wustl.edu 37 6 111913016 111913016 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 111913016 111913016 C G SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known missense c.301 p.E101Q 1.000 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 22 23 51.11 39 0 0.00 TRAF3IP2 10758 genome.wustl.edu 37 6 111913050 111913050 + Silent SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 111913050 111913050 G C SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known silent c.267 p.V89 0.991 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 24 11 31.43 41 0 0.00 TRAF3IP2-AS1 643749 genome.wustl.edu 37 6 111805174 111805174 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 111805174 111805174 G A SNP TRAF3IP2-AS1 ENST00000440001 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors TRAF3IP2-AS1 HGNC ENSG00000231889 18 6 25.00 16 0 0.00 TRAF3IP3 80342 genome.wustl.edu 37 1 209949007 209949007 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 209949007 209949007 G C SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known missense c.979 p.E327Q 1.000 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 21 7 25.00 22 0 0.00 TRAF3IP3 80342 genome.wustl.edu 37 1 209949009 209949009 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 209949009 209949009 G T SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known missense c.981 p.E327D 0.997 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 21 3 12.50 30 0 0.00 TRAF3IP3 80342 genome.wustl.edu 37 1 209949292 209949292 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 209949292 209949292 G T SNP TRAF3IP3 ENST00000488702 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors TRAF3IP3 HGNC ENSG00000009790 13 10 43.48 25 0 0.00 TRAF3IP3 80342 genome.wustl.edu 37 1 209953918 209953918 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 209953918 209953918 G A SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known silent c.1416 p.K472 1.000 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 28 17 37.78 30 0 0.00 TRAF4 9618 genome.wustl.edu 37 17 27075394 27075394 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 27075394 27075394 C T SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known nonsense c.577 p.Q193* 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 45 35 43.75 61 0 0.00 TRAF4 9618 genome.wustl.edu 37 17 27075426 27075426 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 27075426 27075426 C G SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known silent c.609 p.V203 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 19 17 47.22 37 0 0.00 TRAF4 9618 genome.wustl.edu 37 17 27075426 27075426 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 27075426 27075426 C G SNP TRAF4 ENST00000262395 human ensembl 70_37 +1 known silent c.609 p.V203 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 30 21 41.18 28 0 0.00 TRAF4 9618 genome.wustl.edu 37 17 27076945 27076945 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 27076945 27076945 G A SNP TRAF4 ENST00000444415 human ensembl 70_37 +1 novel missense c.1273 p.E425K 0.007 NULL pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 5 6 54.55 18 0 0.00 TRAF5 7188 genome.wustl.edu 37 1 211532937 211532937 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 211532937 211532937 G A SNP TRAF5 ENST00000462410 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TRAF5 HGNC ENSG00000082512 60 12 16.67 26 0 0.00 TRAF5 7188 genome.wustl.edu 37 1 211545904 211545904 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 211545904 211545904 G C SNP TRAF5 ENST00000261464 human ensembl 70_37 +1 known missense c.1534 p.D512H 0.348 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 61 67 51.94 97 0 0.00 TRAF6 7189 genome.wustl.edu 37 11 36511976 36511977 + Frame_Shift_Ins INS - - A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 36511976 36511977 - A INS TRAF6 ENST00000348124 human ensembl 70_37 -1 known frame_shift_ins c.981_980 p.S328fs 0.444:0.899 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 143 78 35.29 249 0 0.00 TRAF7 84231 genome.wustl.edu 37 16 2223241 2223241 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 16 2223241 2223241 G A SNP TRAF7 ENST00000326181 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 25 3 10.71 23 0 0.00 TRAF7 84231 genome.wustl.edu 37 16 2225135 2225135 + Missense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 16 2225135 2225135 C T SNP TRAF7 ENST00000326181 human ensembl 70_37 +1 known missense c.1370 p.A457V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 26 4 13.33 32 0 0.00 TRAF7 84231 genome.wustl.edu 37 16 2225536 2225536 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2225536 2225536 G C SNP TRAF7 ENST00000326181 human ensembl 70_37 +1 known missense c.1539 p.K513N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 17 8 32.00 19 0 0.00 TRAFD1 10906 genome.wustl.edu 37 12 112572848 112572848 + Missense_Mutation SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 112572848 112572848 A G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.215 p.K72R 0.971 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 18 14 43.75 50 0 0.00 TRAFD1 10906 genome.wustl.edu 37 12 112578867 112578867 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112578867 112578867 G A SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.482 p.G161E 0.973 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 15 23 60.53 51 0 0.00 TRAFD1 10906 genome.wustl.edu 37 12 112585930 112585930 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 112585930 112585930 C G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.980 p.S327C 0.371 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 15 20 55.56 48 0 0.00 TRAFD1 10906 genome.wustl.edu 37 12 112589766 112589766 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112589766 112589766 C G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.1441 p.P481A 0.886 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 28 23 45.10 53 0 0.00 TRAIP 10293 genome.wustl.edu 37 3 49866880 49866880 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49866880 49866880 G C SNP TRAIP ENST00000469027 human ensembl 70_37 -1 novel missense c.833 p.S278C 0.201 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 57 34 37.36 79 0 0.00 TRAIP 10293 genome.wustl.edu 37 3 49867119 49867119 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 3 49867119 49867119 G A SNP TRAIP ENST00000331456 human ensembl 70_37 -1 known silent c.1167 p.V389 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 28 11 28.21 46 0 0.00 TRAK1 22906 genome.wustl.edu 37 3 42128645 42128645 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 42128645 42128645 C G SNP TRAK1 ENST00000487159 human ensembl 70_37 +1 known rna NULL NULL 0.207 - - - no_errors TRAK1 HGNC ENSG00000182606 8 7 46.67 11 0 0.00 TRAK1 22906 genome.wustl.edu 37 3 42132994 42132994 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 42132994 42132994 C T SNP TRAK1 ENST00000327628 human ensembl 70_37 +1 putative silent c.33 p.V11 0.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 15 23 60.53 71 0 0.00 TRAK1 22906 genome.wustl.edu 37 3 42251577 42251578 + In_Frame_Ins INS - - GGA TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 3 42251577 42251578 - GGA INS TRAK1 ENST00000341421 human ensembl 70_37 +1 known in_frame_ins c.1889_1890 p.634in_frame_insE 0.010:0.044 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 7 6 46.15 16 0 0.00 TRAK2 66008 genome.wustl.edu 37 2 202264129 202264129 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 202264129 202264129 C G SNP TRAK2 ENST00000332624 human ensembl 70_37 -1 known missense c.451 p.E151Q 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 13 42 76.36 68 0 0.00 TRAK2 66008 genome.wustl.edu 37 2 202284117 202284117 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202284117 202284117 A C SNP TRAK2 ENST00000451703 human ensembl 70_37 -1 putative rna NULL NULL 0.103 - - - no_errors TRAK2 HGNC ENSG00000115993 7 3 30.00 18 0 0.00 TRAM1 23471 genome.wustl.edu 37 8 71495505 71495505 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 71495505 71495505 G C SNP TRAM1 ENST00000262213 human ensembl 70_37 -1 known missense c.945 p.F315L 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 43 5 10.42 46 0 0.00 TRAM1 23471 genome.wustl.edu 37 8 71520420 71520420 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 71520420 71520420 C G SNP TRAM1 ENST00000262213 human ensembl 70_37 -1 known missense c.15 p.K5N 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 65 34 34.34 72 0 0.00 TRAM1L1 133022 genome.wustl.edu 37 4 118005916 118005916 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 118005916 118005916 G T SNP TRAM1L1 ENST00000310754 human ensembl 70_37 -1 known missense c.634 p.L212I 0.049 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 16 3 15.79 31 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36872496 36872496 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 36872496 36872496 C T SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.8446 p.E2816K 0.198 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 31 25 44.64 59 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36874141 36874141 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 36874141 36874141 G T SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known silent c.6801 p.I2267 0.685 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 28 5 15.15 48 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36875105 36875105 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 36875105 36875105 G A SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.5837 p.S1946L 0.852 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 51 13 20.31 91 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36893237 36893237 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 36893237 36893237 G C SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known silent c.4728 p.L1576 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 8 5 38.46 19 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36899397 36899397 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 36899397 36899397 G A SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.1684 p.R562C 0.979 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 67 42 38.53 101 0 0.00 TRANK1 9881 genome.wustl.edu 37 3 36905816 36905816 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 36905816 36905816 G A SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known silent c.1102 p.L368 0.747 superfamily_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 25 14 35.90 36 0 0.00 TRAP1 10131 genome.wustl.edu 37 16 3708835 3708835 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 16 3708835 3708835 G A SNP TRAP1 ENST00000246957 human ensembl 70_37 -1 known missense c.1972 p.R658C 0.999 pfam_Hsp90,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 13 5 26.32 18 0 0.00 TRAP1 10131 genome.wustl.edu 37 16 3715983 3715983 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3715983 3715983 G A SNP TRAP1 ENST00000246957 human ensembl 70_37 -1 known nonsense c.1372 p.Q458* 1.000 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 26 20 42.55 40 0 0.00 TRAP1 10131 genome.wustl.edu 37 16 3722736 3722736 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 3722736 3722736 G A SNP TRAP1 ENST00000246957 human ensembl 70_37 -1 known missense c.1130 p.T377M 0.276 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 31 15 32.61 49 0 0.00 TRAPPC1 58485 genome.wustl.edu 37 17 7833972 7833972 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7833972 7833972 C T SNP TRAPPC1 ENST00000303731 human ensembl 70_37 -1 known silent c.390 p.L130 0.996 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 13 12 48.00 20 0 0.00 TRAPPC1 58485 genome.wustl.edu 37 17 7835148 7835148 + Splice_Site SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 7835148 7835148 C G SNP TRAPPC1 ENST00000540486 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors TRAPPC1 HGNC ENSG00000170043 20 21 50.00 49 0 0.00 TRAPPC10 7109 genome.wustl.edu 37 21 45472274 45472274 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 45472274 45472274 G C SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known missense c.399 p.K133N 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 16 7 30.43 28 0 0.00 TRAPPC10 7109 genome.wustl.edu 37 21 45483604 45483604 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45483604 45483604 G T SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known nonsense c.976 p.E326* 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 25 4 13.79 15 0 0.00 TRAPPC10 7109 genome.wustl.edu 37 21 45499971 45499971 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 45499971 45499971 G A SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known silent c.1686 p.E562 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 25 7 21.88 27 0 0.00 TRAPPC11 60684 genome.wustl.edu 37 4 184585162 184585162 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184585162 184585162 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known nonsense c.142 p.R48* 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 34 33 48.53 48 0 0.00 TRAPPC11 60684 genome.wustl.edu 37 4 184585175 184585175 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184585175 184585175 C G SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.155 p.S52C 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 31 31 50.00 50 0 0.00 TRAPPC11 60684 genome.wustl.edu 37 4 184606283 184606283 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 184606283 184606283 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known silent c.1614 p.L538 0.997 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 55 15 21.43 60 0 0.00 TRAPPC11 60684 genome.wustl.edu 37 4 184618885 184618885 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 184618885 184618885 C A SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.2748 p.D916E 0.440 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 27 4 12.90 31 0 0.00 TRAPPC11 60684 genome.wustl.edu 37 4 184626182 184626182 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 184626182 184626182 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.3014 p.P1005L 1.000 pfam_DUF1683_C pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 14 18 56.25 25 0 0.00 TRAPPC12 51112 genome.wustl.edu 37 2 3391549 3391549 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 3391549 3391549 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.155 p.S52L 0.999 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 13 11 45.83 40 0 0.00 TRAPPC12 51112 genome.wustl.edu 37 2 3391601 3391601 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 3391601 3391601 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known silent c.207 p.S69 0.965 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 23 10 30.30 48 0 0.00 TRAPPC12 51112 genome.wustl.edu 37 2 3428348 3428348 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 3428348 3428348 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.1331 p.A444V 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 51 24 32.00 100 0 0.00 TRAPPC12 51112 genome.wustl.edu 37 2 3481508 3481508 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 3481508 3481508 G A SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.1819 p.E607K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 33 20 37.74 70 0 0.00 TRAPPC2L 51693 genome.wustl.edu 37 16 88923573 88923573 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 88923573 88923573 C G SNP TRAPPC2L ENST00000301021 human ensembl 70_37 +1 known missense c.15 p.I5M 0.996 superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2L HGNC ENSG00000167515 21 4 16.00 36 0 0.00 TRAPPC2P1 10597 genome.wustl.edu 37 19 57876218 57876218 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 57876218 57876218 A G SNP TRAPPC2P1 ENST00000543226 human ensembl 70_37 +1 putative missense c.17 p.Y6C 1.000 superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 89 11 11.00 139 0 0.00 TRAPPC3 27095 genome.wustl.edu 37 1 36605230 36605230 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36605230 36605230 T G SNP TRAPPC3 ENST00000497251 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TRAPPC3 HGNC ENSG00000054116 9 5 35.71 18 0 0.00 TRAPPC4 51399 genome.wustl.edu 37 11 118895677 118895677 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 118895677 118895677 G T SNP TRAPPC4 ENST00000533058 human ensembl 70_37 +1 putative missense c.692 p.R231I 1.000 NULL pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom - no_errors TRAPPC4 HGNC ENSG00000196655 33 4 10.81 51 0 0.00 TRAPPC5 126003 genome.wustl.edu 37 19 7747433 7747433 + Silent SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 19 7747433 7747433 C T SNP TRAPPC5 ENST00000317378 human ensembl 70_37 +1 known silent c.294 p.F98 0.987 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 - no_errors TRAPPC5 HGNC ENSG00000181029 13 7 35.00 17 0 0.00 TRAPPC5 126003 genome.wustl.edu 37 19 7747467 7747467 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7747467 7747467 G A SNP TRAPPC5 ENST00000317378 human ensembl 70_37 +1 known missense c.328 p.D110N 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 - no_errors TRAPPC5 HGNC ENSG00000181029 3 15 83.33 19 0 0.00 TRAPPC8 22878 genome.wustl.edu 37 18 29429636 29429636 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29429636 29429636 G T SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.3628 p.P1210T 0.025 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 18 10 35.71 56 0 0.00 TRAPPC8 22878 genome.wustl.edu 37 18 29437732 29437732 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29437732 29437732 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2959 p.D987H 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 211 71 25.09 270 1 0.37 TRAPPC8 22878 genome.wustl.edu 37 18 29444664 29444664 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 29444664 29444664 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2671 p.E891Q 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 81 28 25.69 99 0 0.00 TRAPPC8 22878 genome.wustl.edu 37 18 29446845 29446845 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 29446845 29446845 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2557 p.D853H 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 29 13 30.95 32 0 0.00 TRAPPC8 22878 genome.wustl.edu 37 18 29522913 29522914 + Splice_Site INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 18 29522913 29522914 - C INS TRAPPC8 ENST00000582539 human ensembl 70_37 -1 putative splice_site_ins c.1+1_0 e0+1 0.002:0.006 - - - no_errors TRAPPC8 HGNC ENSG00000153339 27 10 27.03 29 0 0.00 TRAPPC9 83696 genome.wustl.edu 37 8 140743268 140743268 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 140743268 140743268 C T SNP TRAPPC9 ENST00000521667 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors TRAPPC9 HGNC ENSG00000167632 16 8 33.33 25 0 0.00 TRAPPC9 83696 genome.wustl.edu 37 8 140893937 140893937 + RNA SNP C C G TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 140893937 140893937 C G SNP TRAPPC9 ENST00000522504 human ensembl 70_37 -1 putative rna NULL NULL 0.129 - - - no_errors TRAPPC9 HGNC ENSG00000167632 27 9 25.00 23 0 0.00 TRAPPC9 83696 genome.wustl.edu 37 8 141321456 141321456 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 141321456 141321456 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known nonsense c.1807 p.Q603* 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 12 5 29.41 30 0 0.00 TRAPPC9 83696 genome.wustl.edu 37 8 141415695 141415695 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 141415695 141415695 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known missense c.1283 p.A428V 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 27 4 12.90 47 0 0.00 TRAPPC9 83696 genome.wustl.edu 37 8 141468469 141468469 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 141468469 141468469 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known silent c.195 p.C65 0.007 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 46 11 18.97 73 0 0.00 TRAT1 50852 genome.wustl.edu 37 3 108566027 108566027 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 108566027 108566027 C T SNP TRAT1 ENST00000493604 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAT1 HGNC ENSG00000163519 26 9 25.71 34 0 0.00 TRAT1 50852 genome.wustl.edu 37 3 108572683 108572683 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 108572683 108572683 C G SNP TRAT1 ENST00000295756 human ensembl 70_37 +1 known missense c.520 p.L174V 1.000 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 42 20 32.26 39 0 0.00 TRDN 10345 genome.wustl.edu 37 6 123590999 123590999 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 123590999 123590999 G A SNP TRDN ENST00000398178 human ensembl 70_37 -1 known missense c.1733 p.P578L 0.995 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 28 8 22.22 55 0 0.00 TREH 11181 genome.wustl.edu 37 11 118531414 118531414 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 118531414 118531414 G C SNP TREH ENST00000264029 human ensembl 70_37 -1 known silent c.936 p.L312 1.000 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 - no_errors TREH HGNC ENSG00000118094 37 5 11.90 42 0 0.00 TREM1 54210 genome.wustl.edu 37 6 41250403 41250403 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 41250403 41250403 C G SNP TREM1 ENST00000244709 human ensembl 70_37 -1 known missense c.136 p.E46Q 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors TREM1 HGNC ENSG00000124731 25 22 46.81 80 0 0.00 TREML2 79865 genome.wustl.edu 37 6 41162210 41162210 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 41162210 41162210 G A SNP TREML2 ENST00000483722 human ensembl 70_37 -1 known silent c.738 p.L246 0.002 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC ENSG00000112195 22 18 45.00 40 0 0.00 TREML2 79865 genome.wustl.edu 37 6 41165887 41165887 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 41165887 41165887 G A SNP TREML2 ENST00000483722 human ensembl 70_37 -1 known silent c.336 p.I112 0.041 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC ENSG00000112195 96 51 34.69 164 0 0.00 TREML2 79865 genome.wustl.edu 37 6 41168713 41168714 + In_Frame_Ins INS - - CAG TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41168713 41168714 - CAG INS TREML2 ENST00000483722 human ensembl 70_37 -1 known in_frame_ins c.34_33 p.11in_frame_insL 1.000:0.997 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC ENSG00000112195 67 35 34.31 127 0 0.00 TREML3P 340206 genome.wustl.edu 37 6 41184878 41184878 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 41184878 41184878 G A SNP TREML3P ENST00000564680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TREML3P HGNC ENSG00000184106 31 50 61.73 91 0 0.00 TREML4 285852 genome.wustl.edu 37 6 41196699 41196699 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 41196699 41196699 C G SNP TREML4 ENST00000341495 human ensembl 70_37 +1 known missense c.311 p.S104W 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors TREML4 HGNC ENSG00000188056 62 23 27.06 79 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42224486 42224486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 42224486 42224486 C T SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.2620 p.E874K 1.000 pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 43 23 34.85 48 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42231041 42231041 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 42231041 42231041 G A SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1901 p.S634F 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 13 44 77.19 52 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42232541 42232541 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 42232541 42232541 C G SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known silent c.1536 p.L512 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 39 21 35.00 52 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42235924 42235924 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 42235924 42235924 G C SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1405 p.Q469E 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 30 8 21.05 29 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42235961 42235961 + Frame_Shift_Del DEL G G - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 42235961 42235961 G - DEL TRERF1 ENST00000541110 human ensembl 70_37 -1 known frame_shift_del c.1368 p.S457fs 0.206 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 17 2 10.53 21 0 0.00 TRERF1 55809 genome.wustl.edu 37 6 42236026 42236026 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 42236026 42236026 C A SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1303 p.D435Y 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 24 4 13.79 30 0 0.00 TREX2 11219 genome.wustl.edu 37 X 152710753 152710753 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 152710753 152710753 C T SNP TREX2 ENST00000334497 human ensembl 70_37 -1 known missense c.265 p.D89N 0.008 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX2 HGNC ENSG00000183479 74 19 20.43 76 0 0.00 TRH 7200 genome.wustl.edu 37 3 129694732 129694732 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 3 129694732 129694732 C T SNP TRH ENST00000302649 human ensembl 70_37 +1 known nonsense c.73 p.Q25* 0.034 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 9 5 35.71 12 0 0.00 TRH 7200 genome.wustl.edu 37 3 129694836 129694836 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 129694836 129694836 C G SNP TRH ENST00000302649 human ensembl 70_37 +1 known missense c.177 p.I59M 0.772 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 32 8 20.00 59 0 0.00 TRHDE 29953 genome.wustl.edu 37 12 72667020 72667020 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 72667020 72667020 C G SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known silent c.462 p.L154 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 48 30 38.46 58 0 0.00 TRHDE 29953 genome.wustl.edu 37 12 73012759 73012759 + Nonsense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 73012759 73012759 C T SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known nonsense c.2275 p.R759* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 19 21 51.22 21 0 0.00 TRHDE 29953 genome.wustl.edu 37 12 73046213 73046213 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 73046213 73046213 G A SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known silent c.2652 p.E884 0.999 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 31 10 24.39 43 0 0.00 TRHDE-AS1 283392 genome.wustl.edu 37 12 72656492 72656492 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 72656492 72656492 C A SNP TRHDE-AS1 ENST00000426250 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 38 44 53.66 39 0 0.00 TRHDE-AS1 283392 genome.wustl.edu 37 12 72665811 72665811 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 72665811 72665811 C T SNP TRHDE-AS1 ENST00000426250 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 60 18 23.08 61 0 0.00 TRHDE-AS1 283392 genome.wustl.edu 37 12 72666010 72666010 + RNA SNP C C G TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 12 72666010 72666010 C G SNP TRHDE-AS1 ENST00000435350 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 102 49 32.45 128 0 0.00 TRHR 7201 genome.wustl.edu 37 8 110100474 110100474 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 110100474 110100474 C T SNP TRHR ENST00000311762 human ensembl 70_37 +1 known silent c.733 p.L245 0.060 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TRHR HGNC ENSG00000174417 35 6 14.63 26 0 0.00 TRIAP1 51499 genome.wustl.edu 37 12 120883974 120883974 + RNA SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 120883974 120883974 G T SNP TRIAP1 ENST00000302432 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors TRIAP1 HGNC ENSG00000170855 27 4 12.90 33 0 0.00 TRIB2 28951 genome.wustl.edu 37 2 12880515 12880515 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 2 12880515 12880515 C T SNP TRIB2 ENST00000155926 human ensembl 70_37 +1 known silent c.627 p.L209 0.387 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC ENSG00000071575 110 31 21.99 66 0 0.00 TRIB2 28951 genome.wustl.edu 37 2 12880670 12880670 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 12880670 12880670 C T SNP TRIB2 ENST00000155926 human ensembl 70_37 +1 known missense c.782 p.S261F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC ENSG00000071575 42 17 28.81 33 0 0.00 TRIB3 57761 genome.wustl.edu 37 20 372012 372012 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 372012 372012 G A SNP TRIB3 ENST00000422053 human ensembl 70_37 +1 known missense c.454 p.E152K 0.991 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB3 HGNC ENSG00000101255 33 21 38.89 39 0 0.00 TRIB3 57761 genome.wustl.edu 37 20 377073 377073 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 377073 377073 G C SNP TRIB3 ENST00000422053 human ensembl 70_37 +1 known missense c.897 p.K299N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB3 HGNC ENSG00000101255 72 10 12.20 36 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28993035 28993035 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28993035 28993035 C G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.736 - - - no_errors TRIL HGNC ENSG00000176734 13 16 55.17 40 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28993116 28993116 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28993116 28993116 G A SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIL HGNC ENSG00000176734 14 9 39.13 17 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28995360 28995360 + RNA SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 7 28995360 28995360 C T SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors TRIL HGNC ENSG00000176734 67 28 29.47 80 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28995817 28995817 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 28995817 28995817 C G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 6 7 53.85 8 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28996305 28996305 + RNA SNP T T G TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 28996305 28996305 T G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.282 - - - no_errors TRIL HGNC ENSG00000176734 20 15 42.86 21 0 0.00 TRIL 9865 genome.wustl.edu 37 7 28997039 28997039 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 28997039 28997039 G A SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors TRIL HGNC ENSG00000176734 41 5 10.87 73 0 0.00 TRIM10 10107 genome.wustl.edu 37 6 30128238 30128238 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 30128238 30128238 C T SNP TRIM10 ENST00000449742 human ensembl 70_37 -1 known missense c.398 p.R133H 0.001 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 26 26 50.00 43 0 0.00 TRIM11 81559 genome.wustl.edu 37 1 228588758 228588758 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 228588758 228588758 G A SNP TRIM11 ENST00000284551 human ensembl 70_37 -1 known silent c.642 p.G214 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 19 39 66.10 29 0 0.00 TRIM11 81559 genome.wustl.edu 37 1 228589841 228589841 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 228589841 228589841 C G SNP TRIM11 ENST00000284551 human ensembl 70_37 -1 known missense c.430 p.E144Q 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 60 7 10.45 60 0 0.00 TRIM13 10206 genome.wustl.edu 37 13 50587012 50587012 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 50587012 50587012 G T SNP TRIM13 ENST00000298772 human ensembl 70_37 +1 known missense c.945 p.W315C 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 372 87 18.95 475 0 0.00 TRIM14 9830 genome.wustl.edu 37 9 100849773 100849773 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100849773 100849773 G A SNP TRIM14 ENST00000341469 human ensembl 70_37 -1 known silent c.1308 p.I436 0.948 smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 15 7 31.82 14 0 0.00 TRIM16 10626 genome.wustl.edu 37 17 15534963 15534963 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 15534963 15534963 C G SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.1081 p.E361Q 0.989 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 17 24 58.54 36 0 0.00 TRIM16 10626 genome.wustl.edu 37 17 15535892 15535892 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 17 15535892 15535892 C T SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.946 p.E316K 0.991 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 74 14 15.91 113 0 0.00 TRIM16 10626 genome.wustl.edu 37 17 15539374 15539374 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15539374 15539374 G A SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known silent c.825 p.I275 0.990 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 53 27 33.75 93 0 0.00 TRIM16 10626 genome.wustl.edu 37 17 15554673 15554673 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 15554673 15554673 G C SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known missense c.251 p.T84S 0.144 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 38 31 44.93 67 0 0.00 TRIM16 10626 genome.wustl.edu 37 17 15584410 15584410 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15584410 15584410 G C SNP TRIM16 ENST00000579272 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors TRIM16 HGNC ENSG00000221926 13 5 27.78 17 0 0.00 TRIM16L 147166 genome.wustl.edu 37 17 18625638 18625638 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 18625638 18625638 C G SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.122 p.S41C 0.994 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 7 7 50.00 16 0 0.00 TRIM16L 147166 genome.wustl.edu 37 17 18638256 18638256 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 18638256 18638256 G A SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.692 p.R231H 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 19 23 54.76 36 0 0.00 TRIM16L 147166 genome.wustl.edu 37 17 18638431 18638431 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18638431 18638431 G A SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known silent c.867 p.Q289 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 33 21 38.89 56 0 0.00 TRIM16L 147166 genome.wustl.edu 37 17 18638554 18638554 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 18638554 18638554 C G SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.990 p.F330L 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC ENSG00000108448 13 35 72.92 92 0 0.00 TRIM17 51127 genome.wustl.edu 37 1 228596204 228596204 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228596204 228596204 C A SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.1132 p.D378Y 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 53 22 29.33 60 0 0.00 TRIM17 51127 genome.wustl.edu 37 1 228596276 228596276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 228596276 228596276 C G SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.1060 p.E354Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 160 25 13.51 156 0 0.00 TRIM17 51127 genome.wustl.edu 37 1 228601524 228601524 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 228601524 228601524 C T SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.499 p.E167K 0.972 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 51 64 55.65 56 0 0.00 TRIM2 23321 genome.wustl.edu 37 4 154191652 154191652 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 154191652 154191652 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.196 p.L66 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 33 22 40.00 53 0 0.00 TRIM2 23321 genome.wustl.edu 37 4 154197120 154197120 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 4 154197120 154197120 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.291 p.P97 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 18 8 30.77 39 0 0.00 TRIM2 23321 genome.wustl.edu 37 4 154216602 154216602 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 154216602 154216602 G A SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.924 p.L308 0.998 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 31 7 18.42 46 0 0.00 TRIM2 23321 genome.wustl.edu 37 4 154216995 154216995 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 154216995 154216995 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.1317 p.I439 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 32 7 17.95 29 0 0.00 TRIM21 6737 genome.wustl.edu 37 11 4406540 4406540 + Frame_Shift_Del DEL C C - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 4406540 4406540 C - DEL TRIM21 ENST00000254436 human ensembl 70_37 -1 known frame_shift_del c.1403 p.G468fs 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 17 2 10.53 62 0 0.00 TRIM21 6737 genome.wustl.edu 37 11 4411252 4411252 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 4411252 4411252 C G SNP TRIM21 ENST00000254436 human ensembl 70_37 -1 known missense c.388 p.E130Q 0.990 prints_Znf_B-box_chordata pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 40 11 21.57 54 0 0.00 TRIM22 10346 genome.wustl.edu 37 11 5730382 5730382 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5730382 5730382 C G SNP TRIM22 ENST00000379965 human ensembl 70_37 +1 known nonsense c.1001 p.S334* 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 37 8 17.39 66 0 0.00 TRIM23 373 genome.wustl.edu 37 5 64890377 64890377 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 64890377 64890377 C A SNP TRIM23 ENST00000231524 human ensembl 70_37 -1 known missense c.1516 p.A506S 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 30 48 61.54 75 0 0.00 TRIM24 8805 genome.wustl.edu 37 7 138252327 138252327 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 138252327 138252327 G C SNP TRIM24 ENST00000343526 human ensembl 70_37 +1 known missense c.1632 p.Q544H 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 38 10 20.83 69 0 0.00 TRIM25 7706 genome.wustl.edu 37 17 54969328 54969328 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54969328 54969328 G A SNP TRIM25 ENST00000316881 human ensembl 70_37 -1 known silent c.1626 p.L542 0.987 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 31 9 22.50 39 0 0.00 TRIM26 7726 genome.wustl.edu 37 6 30153705 30153705 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 30153705 30153705 A G SNP TRIM26 ENST00000437089 human ensembl 70_37 -1 known missense c.1568 p.V523A 0.030 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 61 10 14.08 49 0 0.00 TRIM27 5987 genome.wustl.edu 37 6 28875230 28875230 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 28875230 28875230 G A SNP TRIM27 ENST00000467742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM27 HGNC ENSG00000204713 27 4 12.90 42 0 0.00 TRIM28 10155 genome.wustl.edu 37 19 59056853 59056853 + Missense_Mutation SNP C C A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 59056853 59056853 C A SNP TRIM28 ENST00000253024 human ensembl 70_37 +1 known missense c.402 p.F134L 0.974 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 42 12 22.22 50 0 0.00 TRIM28 10155 genome.wustl.edu 37 19 59061167 59061167 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 59061167 59061167 C T SNP TRIM28 ENST00000253024 human ensembl 70_37 +1 known silent c.2046 p.L682 0.418 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 36 24 40.00 75 0 0.00 TRIM29 23650 genome.wustl.edu 37 11 120008473 120008473 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 120008473 120008473 C G SNP TRIM29 ENST00000341846 human ensembl 70_37 -1 known missense c.267 p.K89N 0.997 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 73 19 20.65 72 0 0.00 TRIM31 11074 genome.wustl.edu 37 6 30071895 30071895 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30071895 30071895 G A SNP TRIM31 ENST00000376734 human ensembl 70_37 -1 known silent c.1008 p.P336 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM31 HGNC ENSG00000204616 38 18 32.14 39 0 0.00 TRIM31 11074 genome.wustl.edu 37 6 30080457 30080457 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30080457 30080457 C G SNP TRIM31 ENST00000376734 human ensembl 70_37 -1 known missense c.126 p.Q42H 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM31 HGNC ENSG00000204616 38 8 17.39 27 0 0.00 TRIM31-AS1 0 genome.wustl.edu 37 6 30079611 30079611 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30079611 30079611 C G SNP TRIM31-AS1 ENST00000440874 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM31-AS1 HGNC ENSG00000231226 12 4 25.00 17 0 0.00 TRIM32 22954 genome.wustl.edu 37 9 119460693 119460693 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 119460693 119460693 G C SNP TRIM32 ENST00000373983 human ensembl 70_37 +1 known missense c.672 p.Q224H 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 39 5 11.36 28 0 0.00 TRIM33 51592 genome.wustl.edu 37 1 114940291 114940291 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 114940291 114940291 C G SNP TRIM33 ENST00000358465 human ensembl 70_37 -1 known missense c.3363 p.E1121D 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 24 14 36.84 28 0 0.00 TRIM33 51592 genome.wustl.edu 37 1 114947873 114947873 + RNA SNP T T G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 1 114947873 114947873 T G SNP TRIM33 ENST00000476908 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM33 HGNC ENSG00000197323 24 39 61.90 39 0 0.00 TRIM33 51592 genome.wustl.edu 37 1 114963040 114963040 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 114963040 114963040 C G SNP TRIM33 ENST00000450349 human ensembl 70_37 -1 known missense c.919 p.E307Q 0.000 NULL pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 60 31 34.07 112 0 0.00 TRIM33 51592 genome.wustl.edu 37 1 114968154 114968154 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 114968154 114968154 G T SNP TRIM33 ENST00000358465 human ensembl 70_37 -1 known missense c.1612 p.Q538K 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 30 4 11.76 35 0 0.00 TRIM35 23087 genome.wustl.edu 37 8 27145094 27145094 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 27145094 27145094 G A SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.1455 p.I485 0.211 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 32 18 36.00 40 0 0.00 TRIM35 23087 genome.wustl.edu 37 8 27145235 27145235 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 27145235 27145235 C T SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.1314 p.E438 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 40 9 18.37 65 0 0.00 TRIM35 23087 genome.wustl.edu 37 8 27151768 27151768 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 27151768 27151768 G A SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.591 p.F197 0.997 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 13 14 51.85 35 0 0.00 TRIM35 23087 genome.wustl.edu 37 8 27168491 27168491 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 27168491 27168491 C T SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known missense c.262 p.E88K 0.570 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 38 26 40.62 59 0 0.00 TRIM36 55521 genome.wustl.edu 37 5 114462253 114462253 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 114462253 114462253 G A SNP TRIM36 ENST00000282369 human ensembl 70_37 -1 known nonsense c.2134 p.Q712* 0.998 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 69 9 11.54 88 0 0.00 TRIM36 55521 genome.wustl.edu 37 5 114466485 114466485 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 114466485 114466485 G A SNP TRIM36 ENST00000282369 human ensembl 70_37 -1 known silent c.1636 p.L546 0.997 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 42 34 44.74 63 0 0.00 TRIM37 4591 genome.wustl.edu 37 17 57106026 57106026 + Silent SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 17 57106026 57106026 G T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known silent c.2007 p.P669 0.997 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 35 4 10.26 35 0 0.00 TRIM37 4591 genome.wustl.edu 37 17 57134235 57134235 + Splice_Site SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 57134235 57134235 C T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known splice_site c.1199+1 e13+1 1.000 - - - no_errors TRIM37 HGNC ENSG00000108395 88 31 25.83 65 0 0.00 TRIM37 4591 genome.wustl.edu 37 17 57139987 57139987 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 57139987 57139987 G T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known missense c.883 p.P295T 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 32 11 25.58 25 0 0.00 TRIM38 10475 genome.wustl.edu 37 6 25972171 25972171 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 25972171 25972171 G A SNP TRIM38 ENST00000349458 human ensembl 70_37 +1 known silent c.582 p.E194 0.977 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 27 6 18.18 27 0 0.00 TRIM39 56658 genome.wustl.edu 37 6 30297275 30297275 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 6 30297275 30297275 G C SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known missense c.181 p.E61Q 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 119 45 27.44 154 0 0.00 TRIM39 56658 genome.wustl.edu 37 6 30303588 30303588 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30303588 30303588 G A SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known missense c.616 p.E206K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 16 24 60.00 38 0 0.00 TRIM39 56658 genome.wustl.edu 37 6 30309562 30309562 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 30309562 30309562 C T SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known silent c.1083 p.F361 0.777 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 10 8 42.11 16 0 0.00 TRIM40 135644 genome.wustl.edu 37 6 30105115 30105115 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 30105115 30105115 C A SNP TRIM40 ENST00000376724 human ensembl 70_37 +1 known missense c.302 p.S101Y 0.009 pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 14 7 33.33 23 0 0.00 TRIM40 135644 genome.wustl.edu 37 6 30114945 30114945 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30114945 30114945 C T SNP TRIM40 ENST00000376724 human ensembl 70_37 +1 known silent c.625 p.L209 0.003 NULL pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 140 19 11.88 183 0 0.00 TRIM41 90933 genome.wustl.edu 37 5 180657818 180657818 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 5 180657818 180657818 G C SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.888 p.E296D 1.000 pfam_DUF3631 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 37 21 36.21 64 0 0.00 TRIM41 90933 genome.wustl.edu 37 5 180660643 180660643 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180660643 180660643 G A SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.1171 p.E391K 1.000 pfam_DUF3631 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 21 9 30.00 33 0 0.00 TRIM41 90933 genome.wustl.edu 37 5 180661467 180661467 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 180661467 180661467 C T SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.1585 p.R529C 0.799 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 15 11 42.31 24 0 0.00 TRIM42 287015 genome.wustl.edu 37 3 140401568 140401568 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 140401568 140401568 G C SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known missense c.606 p.K202N 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 247 67 21.27 216 0 0.00 TRIM42 287015 genome.wustl.edu 37 3 140401595 140401595 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 140401595 140401595 C T SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known silent c.633 p.H211 0.812 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 39 5 11.36 33 0 0.00 TRIM42 287015 genome.wustl.edu 37 3 140401673 140401673 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 140401673 140401673 C T SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known silent c.711 p.L237 0.804 smart_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 97 14 12.61 90 0 0.00 TRIM42 287015 genome.wustl.edu 37 3 140401821 140401821 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 3 140401821 140401821 G A SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known missense c.859 p.E287K 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 35 18 33.96 46 0 0.00 TRIM42 287015 genome.wustl.edu 37 3 140406965 140406965 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 140406965 140406965 G A SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known missense c.1441 p.E481K 0.950 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 21 37 63.79 38 0 0.00 TRIM43 129868 genome.wustl.edu 37 2 96265243 96265243 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 96265243 96265243 G A SNP TRIM43 ENST00000272395 human ensembl 70_37 +1 known silent c.1263 p.K421 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC ENSG00000144015 28 5 15.15 24 0 0.00 TRIM45 80263 genome.wustl.edu 37 1 117660797 117660797 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 117660797 117660797 G A SNP TRIM45 ENST00000256649 human ensembl 70_37 -1 known nonsense c.1081 p.Q361* 0.004 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 39 19 32.76 35 0 0.00 TRIM45 80263 genome.wustl.edu 37 1 117663434 117663434 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117663434 117663434 G A SNP TRIM45 ENST00000256649 human ensembl 70_37 -1 known silent c.390 p.G130 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 28 14 33.33 65 0 0.00 TRIM46 80128 genome.wustl.edu 37 1 155147102 155147102 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 155147102 155147102 G A SNP TRIM46 ENST00000464760 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors TRIM46 HGNC ENSG00000163462 58 27 31.76 45 0 0.00 TRIM46 80128 genome.wustl.edu 37 1 155148617 155148617 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 155148617 155148617 C T SNP TRIM46 ENST00000334634 human ensembl 70_37 +1 known silent c.579 p.F193 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 41 19 31.15 49 0 0.00 TRIM46 80128 genome.wustl.edu 37 1 155154367 155154367 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 155154367 155154367 G A SNP TRIM46 ENST00000334634 human ensembl 70_37 +1 known missense c.1628 p.R543Q 0.994 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 92 20 17.86 125 0 0.00 TRIM46 80128 genome.wustl.edu 37 1 155156672 155156672 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155156672 155156672 C T SNP TRIM46 ENST00000468878 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM46 HGNC ENSG00000163462 13 4 23.53 11 0 0.00 TRIM47 91107 genome.wustl.edu 37 17 73871532 73871532 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 73871532 73871532 C G SNP TRIM47 ENST00000254816 human ensembl 70_37 -1 known missense c.1225 p.E409Q 0.891 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 63 17 21.25 49 0 0.00 TRIM49 57093 genome.wustl.edu 37 11 89532887 89532887 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 89532887 89532887 G A SNP TRIM49 ENST00000329758 human ensembl 70_37 -1 known nonsense c.856 p.R286* 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC ENSG00000168930 27 9 25.00 44 0 0.00 TRIM49C 642612 genome.wustl.edu 37 11 89774688 89774688 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 89774688 89774688 C G SNP TRIM49C ENST00000448984 human ensembl 70_37 +1 known silent c.1329 p.L443 0.004 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 11 10 47.62 20 0 0.00 TRIM5 85363 genome.wustl.edu 37 11 5686913 5686913 + Splice_Site SNP C C G TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 5686913 5686913 C G SNP TRIM5 ENST00000305836 human ensembl 70_37 -1 known splice_site c.869-1 e6-1 0.872 - - - no_errors TRIM5 HGNC ENSG00000132256 16 3 15.79 14 0 0.00 TRIM5 85363 genome.wustl.edu 37 11 5687321 5687321 + Frame_Shift_Del DEL A A - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 5687321 5687321 A - DEL TRIM5 ENST00000396853 human ensembl 70_37 -1 known frame_shift_del c.761 p.L254fs 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 10 3 23.08 33 0 0.00 TRIM5 85363 genome.wustl.edu 37 11 5701146 5701146 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5701146 5701146 C G SNP TRIM5 ENST00000305836 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.135 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM5 HGNC ENSG00000132256 43 19 30.65 61 0 0.00 TRIM50 135892 genome.wustl.edu 37 7 72732856 72732856 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 72732856 72732856 G A SNP TRIM50 ENST00000333149 human ensembl 70_37 -1 known nonsense c.691 p.Q231* 0.963 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 99 53 34.87 91 0 0.00 TRIM51 84767 genome.wustl.edu 37 11 55653082 55653082 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 55653082 55653082 C T SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.178 p.R60W 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 137 31 18.45 162 0 0.00 TRIM51 84767 genome.wustl.edu 37 11 55653304 55653304 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55653304 55653304 G A SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.400 p.E134K 0.905 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 116 58 33.33 179 0 0.00 TRIM51 84767 genome.wustl.edu 37 11 55658629 55658629 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 55658629 55658629 G A SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 36 26 41.94 83 0 0.00 TRIM51HP 440041 genome.wustl.edu 37 11 55062922 55062922 + RNA SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 55062922 55062922 A G SNP TRIM51HP ENST00000526016 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors TRIM51HP HGNC ENSG00000166007 123 33 21.02 200 0 0.00 TRIM52 84851 genome.wustl.edu 37 5 180687439 180687439 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 180687439 180687439 C A SNP TRIM52 ENST00000327767 human ensembl 70_37 -1 known nonsense c.376 p.E126* 0.358 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 84 16 16.00 63 0 0.00 TRIM52 84851 genome.wustl.edu 37 5 180687567 180687567 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 180687567 180687567 C T SNP TRIM52 ENST00000327767 human ensembl 70_37 -1 known missense c.248 p.R83Q 0.056 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 64 28 30.43 83 0 0.00 TRIM54 57159 genome.wustl.edu 37 2 27505756 27505756 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27505756 27505756 G A SNP TRIM54 ENST00000296098 human ensembl 70_37 +1 known missense c.157 p.D53N 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 14 21 60.00 37 0 0.00 TRIM54 57159 genome.wustl.edu 37 2 27522162 27522162 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 27522162 27522162 G C SNP TRIM54 ENST00000296098 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 35 19 35.19 61 0 0.00 TRIM55 84675 genome.wustl.edu 37 8 67062588 67062588 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 67062588 67062588 C T SNP TRIM55 ENST00000315962 human ensembl 70_37 +1 known missense c.872 p.A291V 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 28 9 24.32 42 0 0.00 TRIM55 84675 genome.wustl.edu 37 8 67064640 67064640 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 67064640 67064640 C T SNP TRIM55 ENST00000315962 human ensembl 70_37 +1 known silent c.1014 p.G338 0.085 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 13 13 50.00 21 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100730884 100730884 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100730884 100730884 G A SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known silent c.291 p.G97 0.023 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 53 10 15.87 85 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100730990 100730990 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 100730990 100730990 G T SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known missense c.397 p.D133Y 0.821 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 21 8 27.59 25 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100732123 100732123 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 7 100732123 100732123 C T SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known silent c.1530 p.I510 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 88 46 34.33 101 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100732201 100732201 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100732201 100732201 C G SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known silent c.1608 p.L536 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 27 17 38.64 55 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100732911 100732911 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100732911 100732911 G A SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors TRIM56 HGNC ENSG00000169871 48 29 37.66 69 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100732942 100732942 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100732942 100732942 G A SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRIM56 HGNC ENSG00000169871 36 21 36.84 67 0 0.00 TRIM56 81844 genome.wustl.edu 37 7 100733756 100733756 + RNA SNP T T G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 7 100733756 100733756 T G SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.241 - - - no_errors TRIM56 HGNC ENSG00000169871 48 8 14.29 29 0 0.00 TRIM58 25893 genome.wustl.edu 37 1 248039396 248039396 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 248039396 248039396 G T SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1066 p.A356S 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 36 6 14.29 105 1 0.94 TRIM58 25893 genome.wustl.edu 37 1 248039699 248039699 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248039699 248039699 A T SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1369 p.I457F 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 42 26 38.24 94 0 0.00 TRIM58 25893 genome.wustl.edu 37 1 248039700 248039700 + Missense_Mutation SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 248039700 248039700 T C SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1370 p.I457T 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 36 9 20.00 60 0 0.00 TRIM59 286827 genome.wustl.edu 37 3 160155867 160155867 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 160155867 160155867 G C SNP TRIM59 ENST00000309784 human ensembl 70_37 -1 known missense c.1105 p.L369V 0.003 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM59 HGNC ENSG00000213186 7 4 36.36 22 0 0.00 TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5624476 5624476 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 5624476 5624476 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known silent c.18 p.R6 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 30 10 25.00 57 0 0.00 TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655130 5655130 + Splice_Site SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 5655130 5655130 G T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known splice_site c.1581+1 e9+1 1.000 - - - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 24 14 35.90 43 0 0.00 TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655906 5655906 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 5655906 5655906 C A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known missense c.1627 p.Q543K 0.010 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 18 6 25.00 34 0 0.00 TRIM61 391712 genome.wustl.edu 37 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 165890861 165890861 C G SNP TRIM61 ENST00000329314 human ensembl 70_37 -1 known missense c.294 p.K98N 0.833 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 23 5 17.86 45 0 0.00 TRIM61 391712 genome.wustl.edu 37 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 4 165890861 165890861 C G SNP TRIM61 ENST00000329314 human ensembl 70_37 -1 known missense c.294 p.K98N 0.833 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 62 17 21.52 88 0 0.00 TRIM62 55223 genome.wustl.edu 37 1 33613039 33613039 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 33613039 33613039 G A SNP TRIM62 ENST00000291416 human ensembl 70_37 -1 known silent c.1167 p.I389 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 18 75 80.65 57 0 0.00 TRIM63 84676 genome.wustl.edu 37 1 26387774 26387774 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 26387774 26387774 C G SNP TRIM63 ENST00000374272 human ensembl 70_37 -1 known missense c.384 p.E128D 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 19 14 42.42 24 0 0.00 TRIM63 84676 genome.wustl.edu 37 1 26394009 26394009 + RNA SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 1 26394009 26394009 C T SNP TRIM63 ENST00000483052 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM63 HGNC ENSG00000158022 12 6 33.33 30 0 0.00 TRIM63 84676 genome.wustl.edu 37 1 26394022 26394022 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 26394022 26394022 C G SNP TRIM63 ENST00000483052 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM63 HGNC ENSG00000158022 25 8 24.24 35 0 0.00 TRIM64C 646754 genome.wustl.edu 37 11 49078714 49078714 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 49078714 49078714 C T SNP TRIM64C ENST00000530230 human ensembl 70_37 -1 known missense c.715 p.V239M 0.032 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM64C HGNC ENSG00000214891 32 15 31.91 28 0 0.00 TRIM65 201292 genome.wustl.edu 37 17 73887309 73887309 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73887309 73887309 C G SNP TRIM65 ENST00000269383 human ensembl 70_37 -1 known missense c.1105 p.E369Q 0.812 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 31 9 21.95 35 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231298820 231298820 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 231298820 231298820 G A SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known silent c.105 p.A35 0.955 smart_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 17 15 46.88 22 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231333131 231333131 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 231333131 231333131 G C SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1059 p.Q353H 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 63 11 14.86 56 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231333183 231333183 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 231333183 231333183 C T SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known nonsense c.1111 p.Q371* 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 30 11 26.83 48 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231334844 231334844 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 231334844 231334844 G C SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1192 p.V398L 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 61 10 14.08 69 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231334860 231334860 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 1 231334860 231334860 G A SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1208 p.R403H 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 49 19 27.94 80 0 0.00 TRIM67 440730 genome.wustl.edu 37 1 231344807 231344807 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 231344807 231344807 C T SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1934 p.A645V 0.998 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 16 9 36.00 43 0 0.00 TRIM68 55128 genome.wustl.edu 37 11 4623468 4623468 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 4623468 4623468 C T SNP TRIM68 ENST00000300747 human ensembl 70_37 -1 known missense c.697 p.E233K 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM68 HGNC ENSG00000167333 50 13 20.63 92 0 0.00 TRIM69 140691 genome.wustl.edu 37 15 45047237 45047237 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 15 45047237 45047237 G A SNP TRIM69 ENST00000329464 human ensembl 70_37 +1 known missense c.146 p.R49Q 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC ENSG00000185880 79 58 42.03 109 0 0.00 TRIM69 140691 genome.wustl.edu 37 15 45051031 45051031 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 45051031 45051031 G T SNP TRIM69 ENST00000329464 human ensembl 70_37 +1 known missense c.792 p.Q264H 0.979 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC ENSG00000185880 26 3 10.34 29 0 0.00 TRIM7 81786 genome.wustl.edu 37 5 180622600 180622600 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180622600 180622600 C T SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.1102 p.E368K 0.820 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 29 21 42.00 58 0 0.00 TRIM7 81786 genome.wustl.edu 37 5 180625192 180625192 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 180625192 180625192 C G SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.1015 p.E339Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 38 15 28.30 33 0 0.00 TRIM7 81786 genome.wustl.edu 37 5 180626112 180626112 + Missense_Mutation SNP G G T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 5 180626112 180626112 G T SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.855 p.F285L 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 20 4 16.67 24 0 0.00 TRIM7 81786 genome.wustl.edu 37 5 180631636 180631636 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 180631636 180631636 G C SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.475 p.R159G 0.996 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box,prints_Znf_B-box_chordata pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 15 9 37.50 16 0 0.00 TRIM71 131405 genome.wustl.edu 37 3 32915396 32915396 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 32915396 32915396 C T SNP TRIM71 ENST00000383763 human ensembl 70_37 +1 known silent c.939 p.Y313 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 46 34 42.50 78 0 0.00 TRIM72 493829 genome.wustl.edu 37 16 31230472 31230472 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 31230472 31230472 G A SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known silent c.447 p.K149 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 61 20 24.69 55 0 0.00 TRIM72 493829 genome.wustl.edu 37 16 31235640 31235640 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 31235640 31235640 C T SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known missense c.998 p.A333V 0.971 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 8 8 50.00 16 0 0.00 TRIM72 493829 genome.wustl.edu 37 16 31235905 31235905 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 31235905 31235905 C T SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known silent c.1263 p.D421 0.982 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 18 13 41.94 19 0 0.00 TRIM73 375593 genome.wustl.edu 37 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 75028599 75028599 G A SNP TRIM73 ENST00000323819 human ensembl 70_37 +1 known missense c.382 p.V128I 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM73 HGNC ENSG00000178809 4 5 55.56 8 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51446219 51446219 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 51446219 51446219 G T SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.2199 p.D733E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 244 46 15.81 323 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51464737 51464737 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 51464737 51464737 C T SNP TRIM9 ENST00000360392 human ensembl 70_37 -1 known missense c.1634 p.R545Q 1.000 NULL pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 17 6 26.09 39 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51467440 51467440 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 51467440 51467440 G T SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known nonsense c.1413 p.Y471* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 38 20 34.48 68 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51467466 51467466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 51467466 51467466 G C SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.1387 p.L463V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 22 3 12.00 35 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51467500 51467500 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 14 51467500 51467500 G A SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known silent c.1353 p.N451 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 29 22 43.14 56 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51477205 51477205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 51477205 51477205 C G SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.1049 p.R350P 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 16 14 46.67 23 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51561087 51561087 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 51561087 51561087 C G SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.571 p.D191H 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 20 19 48.72 31 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51561129 51561129 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 14 51561129 51561129 C T SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.529 p.E177K 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 10 8 44.44 26 0 0.00 TRIM9 114088 genome.wustl.edu 37 14 51561606 51561606 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 51561606 51561606 G A SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.52 p.R18W 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 19 13 39.39 33 0 0.00 TRIML1 339976 genome.wustl.edu 37 4 189060882 189060882 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 189060882 189060882 G A SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known nonsense c.170 p.W57* 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 13 5 27.78 18 0 0.00 TRIML1 339976 genome.wustl.edu 37 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 189061706 189061706 C G SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known missense c.433 p.L145V 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 93 18 16.22 81 0 0.00 TRIML1 339976 genome.wustl.edu 37 4 189068346 189068346 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 189068346 189068346 C T SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known silent c.1227 p.V409 0.436 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 222 92 29.21 253 0 0.00 TRIML2 205860 genome.wustl.edu 37 4 189022246 189022246 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 189022246 189022246 G A SNP TRIML2 ENST00000512729 human ensembl 70_37 -1 known silent c.294 p.A98 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 29 10 25.64 60 0 0.00 TRIML2 205860 genome.wustl.edu 37 4 189022289 189022289 + Missense_Mutation SNP A A G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 4 189022289 189022289 A G SNP TRIML2 ENST00000512729 human ensembl 70_37 -1 known missense c.251 p.L84S 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 27 10 27.03 54 0 0.00 TRIML2 205860 genome.wustl.edu 37 4 189026426 189026426 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 189026426 189026426 C T SNP TRIML2 ENST00000536972 human ensembl 70_37 -1 known missense c.97 p.D33N 0.933 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfscan_Znf_B-box - no_errors TRIML2 HGNC ENSG00000179046 136 40 22.73 162 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14290885 14290885 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 14290885 14290885 G A SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 40 16 28.57 80 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14291265 14291265 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 14291265 14291265 G C SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.981 p.Q327H 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 37 11 22.00 39 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14316834 14316834 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 14316834 14316834 C T SNP TRIO ENST00000344204 human ensembl 70_37 +1 known silent c.1713 p.F571 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 39 18 31.58 80 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14420638 14420639 + RNA INS - - T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 14420638 14420639 - T INS TRIO ENST00000507714 human ensembl 70_37 +1 known rna NULL NULL 0.067:0.013 - - - no_errors TRIO HGNC ENSG00000038382 36 5 12.20 64 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14461388 14461389 + Frame_Shift_Ins INS - - CGGC TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 14461388 14461389 - CGGC INS TRIO ENST00000344204 human ensembl 70_37 +1 known frame_shift_ins c.5464_5465 p.T1824fs 1.000:1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 9 4 30.77 8 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14462916 14462916 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14462916 14462916 C T SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.5549 p.S1850L 0.998 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 68 34 33.33 58 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14477003 14477003 + Missense_Mutation SNP C C G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 5 14477003 14477003 C G SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.6084 p.D2028E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 36 16 30.77 76 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14485296 14485296 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 14485296 14485296 G A SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.6776 p.R2259Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 50 14 21.88 47 0 0.00 TRIO 7204 genome.wustl.edu 37 5 14507291 14507291 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14507291 14507291 G C SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.8673 p.K2891N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 50 20 28.57 48 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38119251 38119251 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 38119251 38119251 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.688 p.G230R 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 30 18 37.50 38 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38119410 38119410 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 22 38119410 38119410 C T SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known nonsense c.847 p.R283* 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 20 9 31.03 31 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38120147 38120147 + Silent SNP A A C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 22 38120147 38120147 A C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.1584 p.T528 0.062 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 104 12 10.34 143 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130433 38130433 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 38130433 38130433 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4090 p.E1364K 0.934 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 39 17 30.36 62 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130481 38130481 + Nonsense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 38130481 38130481 G T SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known nonsense c.4138 p.E1380* 0.048 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 8 41 83.67 50 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130493 38130493 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 38130493 38130493 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4150 p.E1384K 0.962 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 9 40 81.63 47 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130627 38130627 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38130627 38130627 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.4284 p.Q1428 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 18 5 21.74 72 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130869 38130869 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38130869 38130869 G C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4526 p.R1509T 0.734 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 25 7 21.88 70 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38130892 38130892 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 22 38130892 38130892 G C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4549 p.E1517Q 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 60 18 23.08 97 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38131387 38131387 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38131387 38131387 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5044 p.E1682K 0.956 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 9 4 30.77 28 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38150912 38150912 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38150912 38150912 C G SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5408 p.S1803C 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 19 18 48.65 60 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38151132 38151132 + Missense_Mutation SNP G G A TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 22 38151132 38151132 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5512 p.D1838N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 29 20 40.82 35 0 0.00 TRIOBP 11078 genome.wustl.edu 37 22 38167740 38167740 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 38167740 38167740 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.6933 p.Q2311 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 45 9 16.67 85 0 0.00 TRIP10 9322 genome.wustl.edu 37 19 6743520 6743520 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 6743520 6743520 G C SNP TRIP10 ENST00000313244 human ensembl 70_37 +1 known missense c.424 p.E142Q 1.000 NULL pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 62 43 40.95 117 0 0.00 TRIP10 9322 genome.wustl.edu 37 19 6750600 6750600 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 6750600 6750600 C T SNP TRIP10 ENST00000313244 human ensembl 70_37 +1 known missense c.1613 p.P538L 0.186 superfamily_SH3_domain pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 38 30 44.12 65 0 0.00 TRIP10 9322 genome.wustl.edu 37 19 6751284 6751284 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6751284 6751284 C T SNP TRIP10 ENST00000596758 human ensembl 70_37 +1 known nonsense c.1729 p.Q577* 0.718 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors TRIP10 HGNC ENSG00000125733 19 30 61.22 42 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92471742 92471742 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92471742 92471742 C G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.2578 p.E860Q 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 26 13 33.33 50 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92471878 92471878 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 92471878 92471878 T G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.2442 p.E814D 0.150 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 9 9 50.00 35 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92472348 92472348 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 92472348 92472348 G A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1972 p.L658F 0.963 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 23 17 42.50 47 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92472576 92472576 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 92472576 92472576 C T SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1744 p.E582K 0.910 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 72 29 28.71 78 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92474016 92474016 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92474016 92474016 C G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1495 p.E499Q 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 23 23 50.00 94 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92474016 92474016 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 14 92474016 92474016 C T SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1495 p.E499K 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 65 26 28.57 82 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92477349 92477349 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 92477349 92477349 G A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.591 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 69 48 41.03 115 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92484032 92484032 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 92484032 92484032 G T SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known silent c.651 p.I217 0.939 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 15 3 16.67 40 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92488177 92488177 + Splice_Site SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 92488177 92488177 T C SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known splice_site c.313-2 e4-2 1.000 - - - no_errors TRIP11 HGNC ENSG00000100815 13 3 18.75 30 0 0.00 TRIP11 9321 genome.wustl.edu 37 14 92505916 92505916 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92505916 92505916 C A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known silent c.114 p.L38 0.167 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 33 23 41.07 64 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230633395 230633395 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 230633395 230633395 C G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.5719 p.D1907H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 31 10 24.39 18 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230636303 230636303 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 230636303 230636303 C G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.5515 p.D1839H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 58 28 32.56 73 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230650475 230650475 + Nonsense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 230650475 230650475 C A SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known nonsense c.4867 p.E1623* 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 4 16 80.00 31 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230660005 230660006 + Frame_Shift_Ins INS - - C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 230660005 230660006 - C INS TRIP12 ENST00000283943 human ensembl 70_37 -1 known frame_shift_ins c.3633_3632 p.N1212fs 0.976:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 11 33 75.00 39 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230667174 230667174 + Silent SNP A A G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 230667174 230667174 A G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known silent c.2775 p.G925 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 12 8 40.00 18 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230670551 230670551 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 230670551 230670551 G A SNP TRIP12 ENST00000389045 human ensembl 70_37 -1 novel nonsense c.1510 p.R504* 1.000 pfam_WWE-dom,superfamily_ARM-type_fold,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_HECT,pfam_WWE-dom,superfamily_HECT,superfamily_ARM-type_fold,smart_WWE-dom_subgr,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 19 22 53.66 49 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230672494 230672494 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 230672494 230672494 G A SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.2282 p.A761V 1.000 superfamily_ARM-type_fold,pfscan_WWE-dom pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 44 8 15.38 97 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230678652 230678652 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 230678652 230678652 G T SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known silent c.1776 p.I592 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 33 4 10.81 32 0 0.00 TRIP12 9320 genome.wustl.edu 37 2 230723835 230723835 + Nonsense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 230723835 230723835 G C SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known nonsense c.554 p.S185* 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 27 16 37.21 53 0 0.00 TRIP13 9319 genome.wustl.edu 37 5 908479 908479 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 908479 908479 C G SNP TRIP13 ENST00000166345 human ensembl 70_37 +1 known missense c.769 p.L257V 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 21 20 48.78 47 0 0.00 TRIP4 9325 genome.wustl.edu 37 15 64680166 64680166 + RNA SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 64680166 64680166 G C SNP TRIP4 ENST00000557834 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TRIP4 HGNC ENSG00000103671 53 12 18.46 58 0 0.00 TRIP6 7205 genome.wustl.edu 37 7 100470816 100470816 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100470816 100470816 C T SNP TRIP6 ENST00000200457 human ensembl 70_37 +1 known missense c.1322 p.S441F 0.984 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 54 8 12.90 65 0 0.00 TRIT1 54802 genome.wustl.edu 37 1 40307502 40307502 + Nonsense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 40307502 40307502 G A SNP TRIT1 ENST00000316891 human ensembl 70_37 -1 known nonsense c.1318 p.Q440* 0.106 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 30 13 30.23 28 0 0.00 TRIT1 54802 genome.wustl.edu 37 1 40315816 40315816 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 40315816 40315816 G A SNP TRIT1 ENST00000316891 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 21 8 27.59 31 0 0.00 TRMT1 55621 genome.wustl.edu 37 19 13226520 13226520 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 13226520 13226520 C G SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known missense c.373 p.E125Q 0.999 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 35 24 40.68 55 0 0.00 TRMT1 55621 genome.wustl.edu 37 19 13227100 13227100 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 13227100 13227100 C T SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known silent c.114 p.E38 1.000 NULL pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 41 14 25.00 58 0 0.00 TRMT1 55621 genome.wustl.edu 37 19 13227106 13227106 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 13227106 13227106 C T SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known silent c.108 p.A36 0.000 NULL pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 63 31 32.98 74 0 0.00 TRMT10A 93587 genome.wustl.edu 37 4 100472125 100472125 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 100472125 100472125 G A SNP TRMT10A ENST00000273962 human ensembl 70_37 -1 known missense c.668 p.S223L 0.991 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 31 10 24.39 46 0 0.00 TRMT10A 93587 genome.wustl.edu 37 4 100480442 100480443 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 4 100480442 100480443 - T INS TRMT10A ENST00000273962 human ensembl 70_37 -1 known frame_shift_ins c.54_53 p.Q19fs 0.261:0.390 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 42 24 36.36 45 0 0.00 TRMT10C 54931 genome.wustl.edu 37 3 101283864 101283864 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 101283864 101283864 C T SNP TRMT10C ENST00000309922 human ensembl 70_37 +1 known missense c.239 p.S80L 0.000 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 145 17 10.43 130 0 0.00 TRMT10C 54931 genome.wustl.edu 37 3 101284448 101284448 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 101284448 101284448 G A SNP TRMT10C ENST00000309922 human ensembl 70_37 +1 known missense c.823 p.E275K 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 19 5 20.83 28 0 0.00 TRMT11 60487 genome.wustl.edu 37 6 126359936 126359936 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 6 126359936 126359936 G T SNP TRMT11 ENST00000334379 human ensembl 70_37 +1 known missense c.1346 p.G449V 0.997 pirsf_tRNA_mtfrase_TRM11 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 35 4 10.26 41 0 0.00 TRMT12 55039 genome.wustl.edu 37 8 125463244 125463244 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 125463244 125463244 G C SNP TRMT12 ENST00000328599 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 124 38 23.46 80 0 0.00 TRMT13 54482 genome.wustl.edu 37 1 100608696 100608696 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 100608696 100608696 G C SNP TRMT13 ENST00000370141 human ensembl 70_37 +1 known missense c.673 p.D225H 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 35 7 16.67 37 0 0.00 TRMT1L 81627 genome.wustl.edu 37 1 185094133 185094133 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 185094133 185094133 C G SNP TRMT1L ENST00000367506 human ensembl 70_37 -1 known missense c.1702 p.E568Q 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 42 7 14.29 60 0 0.00 TRMT2A 27037 genome.wustl.edu 37 22 20103702 20103702 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 20103702 20103702 C T SNP TRMT2A ENST00000252136 human ensembl 70_37 -1 known missense c.458 p.R153K 0.978 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 21 9 30.00 46 0 0.00 TRMT2A 27037 genome.wustl.edu 37 22 20104027 20104027 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20104027 20104027 C G SNP TRMT2A ENST00000252136 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.002 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 33 13 28.26 30 0 0.00 TRMT2B 79979 genome.wustl.edu 37 X 100275544 100275544 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100275544 100275544 G A SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.1100 p.S367F 0.003 pfam_U5_MeTrfase,pfam_Small_mtfrase_dom pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 26 20 43.48 46 0 0.00 TRMT2B 79979 genome.wustl.edu 37 X 100276201 100276201 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100276201 100276201 C A SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.955 p.D319Y 0.973 pfam_U5_MeTrfase pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 28 17 37.78 41 0 0.00 TRMT2B 79979 genome.wustl.edu 37 X 100297126 100297126 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100297126 100297126 A C SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.153 p.D51E 0.228 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 19 11 36.67 42 0 0.00 TRMT44 152992 genome.wustl.edu 37 4 8467278 8467278 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 8467278 8467278 C A SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known nonsense c.1484 p.S495* 1.000 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 3 16 84.21 55 0 0.00 TRMT44 152992 genome.wustl.edu 37 4 8469914 8469914 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 4 8469914 8469914 C G SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known missense c.1768 p.H590D 0.933 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 41 14 25.45 54 0 0.00 TRMT44 152992 genome.wustl.edu 37 4 8469962 8469962 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 8469962 8469962 C T SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known nonsense c.1816 p.R606* 0.723 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 50 26 34.21 107 1 0.93 TRMT5 57570 genome.wustl.edu 37 14 61446334 61446334 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 61446334 61446334 G A SNP TRMT5 ENST00000261249 human ensembl 70_37 -1 known silent c.282 p.V94 0.005 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 337 50 12.85 406 0 0.00 TRMT6 51605 genome.wustl.edu 37 20 5924565 5924565 + RNA SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 5924565 5924565 T C SNP TRMT6 ENST00000473131 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors TRMT6 HGNC ENSG00000089195 33 44 57.14 102 0 0.00 TRMT61B 55006 genome.wustl.edu 37 2 29087905 29087905 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 29087905 29087905 C T SNP TRMT61B ENST00000306108 human ensembl 70_37 -1 known missense c.780 p.M260I 1.000 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 49 16 24.62 37 0 0.00 TRMU 55687 genome.wustl.edu 37 22 46733701 46733701 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 46733701 46733701 G A SNP TRMU ENST00000290846 human ensembl 70_37 +1 known missense c.108 p.M36I 1.000 pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 79 25 23.81 101 0 0.00 TRMU 55687 genome.wustl.edu 37 22 46739244 46739244 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 46739244 46739244 C T SNP TRMU ENST00000290846 human ensembl 70_37 +1 known missense c.334 p.H112Y 0.005 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 68 10 12.82 25 0 0.00 TRNAU1AP 54952 genome.wustl.edu 37 1 28897738 28897738 + Missense_Mutation SNP A A C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 28897738 28897738 A C SNP TRNAU1AP ENST00000373830 human ensembl 70_37 +1 known missense c.581 p.N194T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC ENSG00000180098 94 17 15.32 71 0 0.00 TRNAU1AP 54952 genome.wustl.edu 37 1 28904068 28904068 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28904068 28904068 G A SNP TRNAU1AP ENST00000373830 human ensembl 70_37 +1 known missense c.784 p.E262K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC ENSG00000180098 15 11 42.31 34 0 0.00 TRO 7216 genome.wustl.edu 37 X 54949050 54949050 + Missense_Mutation SNP C C G TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 X 54949050 54949050 C G SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.85 p.P29A 0.013 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 66 26 28.26 62 0 0.00 TRO 7216 genome.wustl.edu 37 X 54950074 54950074 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 54950074 54950074 C T SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1109 p.S370F 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 46 14 23.33 54 0 0.00 TRO 7216 genome.wustl.edu 37 X 54950191 54950191 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 54950191 54950191 G T SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1226 p.R409I 0.996 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 11 5 31.25 21 0 0.00 TRO 7216 genome.wustl.edu 37 X 54950197 54950197 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 54950197 54950197 G A SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1232 p.R411Q 0.997 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 36 14 28.00 42 0 0.00 TRO 7216 genome.wustl.edu 37 X 54951467 54951467 + Missense_Mutation SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 X 54951467 54951467 A G SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1451 p.E484G 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 32 16 33.33 43 0 0.00 TRO 7216 genome.wustl.edu 37 X 54955746 54955746 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 54955746 54955746 C G SNP TRO ENST00000173898 human ensembl 70_37 +1 known silent c.2589 p.L863 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 51 33 39.29 98 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49717669 49717669 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49717669 49717669 C T SNP TROAP ENST00000257909 human ensembl 70_37 +1 known silent c.186 p.L62 0.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 6 5 45.45 10 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49717830 49717830 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 49717830 49717830 G A SNP TROAP ENST00000550709 human ensembl 70_37 +1 putative nonsense c.347 p.W116* 0.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 22 29 56.86 59 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49719924 49719924 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 49719924 49719924 G C SNP TROAP ENST00000257909 human ensembl 70_37 +1 known missense c.699 p.E233D 0.999 NULL NULL - no_errors TROAP HGNC ENSG00000135451 41 6 12.77 42 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49720471 49720471 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49720471 49720471 C G SNP TROAP ENST00000257909 human ensembl 70_37 +1 known nonsense c.737 p.S246* 0.988 NULL NULL - no_errors TROAP HGNC ENSG00000135451 32 20 38.46 25 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49721039 49721039 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 49721039 49721039 G A SNP TROAP ENST00000257909 human ensembl 70_37 +1 known missense c.817 p.E273K 1.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 31 32 50.79 62 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49724818 49724818 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 49724818 49724818 C G SNP TROAP ENST00000551245 human ensembl 70_37 +1 novel silent c.2190 p.L730 0.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 33 14 29.79 67 0 0.00 TROAP 10024 genome.wustl.edu 37 12 49725173 49725173 + Missense_Mutation SNP G G C TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 12 49725173 49725173 G C SNP TROAP ENST00000257909 human ensembl 70_37 +1 known missense c.2275 p.E759Q 0.948 NULL NULL - no_errors TROAP HGNC ENSG00000135451 19 15 44.12 40 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193038217 193038217 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 193038217 193038217 G A SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known silent c.33 p.L11 0.986 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 87 11 11.22 50 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193044963 193044963 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 193044963 193044963 G C SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known silent c.594 p.V198 0.994 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 32 5 13.51 36 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193053855 193053855 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 193053855 193053855 G C SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known missense c.1611 p.M537I 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 30 15 33.33 46 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 193053997 193053997 A - DEL TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 22 3 12.00 27 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193054185 193054185 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 193054185 193054185 T C SNP TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.046 - - - no_errors TROVE2 HGNC ENSG00000116747 25 20 44.44 65 0 0.00 TROVE2 6738 genome.wustl.edu 37 1 193054347 193054347 + RNA DEL A A - TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 193054347 193054347 A - DEL TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 14 2 12.50 22 0 0.00 TRPA1 8989 genome.wustl.edu 37 8 72936146 72936146 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 72936146 72936146 G A SNP TRPA1 ENST00000262209 human ensembl 70_37 -1 known missense c.3052 p.H1018Y 0.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 41 23 35.94 44 0 0.00 TRPA1 8989 genome.wustl.edu 37 8 72936146 72936146 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 72936146 72936146 G A SNP TRPA1 ENST00000262209 human ensembl 70_37 -1 known missense c.3052 p.H1018Y 0.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 85 38 30.89 136 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142443466 142443466 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 142443466 142443466 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.65 p.S22F 1.000 NULL pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 32 4 11.11 43 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142443468 142443468 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 142443468 142443468 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.67 p.P23S 1.000 NULL pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 32 4 11.11 47 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142462353 142462353 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 142462353 142462353 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known silent c.354 p.I118 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 19 17 47.22 39 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142521181 142521181 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 142521181 142521181 C G SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1752 p.F584L 1.000 pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 14 9 39.13 44 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142522838 142522838 + Missense_Mutation SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 3 142522838 142522838 G T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1777 p.A593S 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 35 4 10.26 36 0 0.00 TRPC1 7220 genome.wustl.edu 37 3 142522890 142522890 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 142522890 142522890 G T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1829 p.R610I 0.721 pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 30 15 33.33 63 0 0.00 TRPC2 7221 genome.wustl.edu 37 11 3658459 3658459 + RNA SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 3658459 3658459 C T SNP TRPC2 ENST00000526541 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors TRPC2 HGNC ENSG00000182048 23 14 37.84 48 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122828641 122828641 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 4 122828641 122828641 C T SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1874 p.R625Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 84 20 19.23 215 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122828660 122828660 + Missense_Mutation SNP C C G TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 4 122828660 122828660 C G SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1855 p.V619L 0.993 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 13 8 38.10 10 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122833186 122833186 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 122833186 122833186 G C SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known missense c.1404 p.I468M 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 30 22 41.51 50 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122835998 122835998 + Silent SNP C C A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 4 122835998 122835998 C A SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.1278 p.V426 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 48 25 34.25 77 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122853864 122853864 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 122853864 122853864 G A SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.549 p.I183 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 20 11 35.48 23 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122853996 122853996 + Silent SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 122853996 122853996 G A SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.417 p.N139 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 40 11 21.57 65 0 0.00 TRPC3 7222 genome.wustl.edu 37 4 122872779 122872779 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 4 122872779 122872779 C T SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.57 p.P19 0.981 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 30 16 34.78 43 0 0.00 TRPC4 7223 genome.wustl.edu 37 13 38211095 38211095 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 38211095 38211095 T A SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known missense c.2894 p.D965V 0.637 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 50 28 35.00 106 0 0.00 TRPC4 7223 genome.wustl.edu 37 13 38225483 38225483 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 38225483 38225483 G C SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known silent c.1998 p.L666 0.273 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 40 37 48.05 72 0 0.00 TRPC4 7223 genome.wustl.edu 37 13 38266158 38266158 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 38266158 38266158 C T SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known nonsense c.1212 p.W404* 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 17 8 32.00 45 0 0.00 TRPC4 7223 genome.wustl.edu 37 13 38266214 38266214 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 38266214 38266214 G T SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known missense c.1156 p.H386N 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 36 22 37.93 68 0 0.00 TRPC4 7223 genome.wustl.edu 37 13 38266217 38266217 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 38266217 38266217 G A SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known nonsense c.1153 p.Q385* 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 45 16 26.23 73 0 0.00 TRPC4AP 26133 genome.wustl.edu 37 20 33591061 33591061 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 33591061 33591061 C T SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known nonsense c.2282 p.W761* 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 13 14 51.85 30 0 0.00 TRPC4AP 26133 genome.wustl.edu 37 20 33594341 33594341 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 33594341 33594341 G A SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known missense c.1724 p.S575L 0.999 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 39 21 35.00 57 0 0.00 TRPC4AP 26133 genome.wustl.edu 37 20 33603935 33603935 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 33603935 33603935 C T SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known missense c.1226 p.R409K 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 31 12 27.91 45 0 0.00 TRPC5 7224 genome.wustl.edu 37 X 111078180 111078180 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 111078180 111078180 G A SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.1865 p.A622V 1.000 pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 51 18 26.09 69 0 0.00 TRPC5 7224 genome.wustl.edu 37 X 111090481 111090481 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 111090481 111090481 G A SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.1561 p.L521F 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 45 23 33.82 72 0 0.00 TRPC5 7224 genome.wustl.edu 37 X 111155612 111155612 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 111155612 111155612 G C SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known silent c.807 p.L269 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 68 19 21.84 71 0 0.00 TRPC5 7224 genome.wustl.edu 37 X 111195357 111195357 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 111195357 111195357 C T SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.292 p.D98N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 20 23 53.49 53 0 0.00 TRPC5OS 100329135 genome.wustl.edu 37 X 111145031 111145031 + RNA SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 111145031 111145031 G T SNP TRPC5OS ENST00000371970 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors TRPC5OS HGNC ENSG00000204025 34 16 32.00 28 0 0.00 TRPC6 7225 genome.wustl.edu 37 11 101323781 101323781 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 101323781 101323781 C A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known nonsense c.2701 p.E901* 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 15 11 42.31 29 0 0.00 TRPC6 7225 genome.wustl.edu 37 11 101342954 101342954 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 101342954 101342954 G T SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known missense c.2119 p.L707I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 10 8 44.44 25 0 0.00 TRPC6 7225 genome.wustl.edu 37 11 101347230 101347230 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 101347230 101347230 G A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known nonsense c.1546 p.Q516* 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 16 13 44.83 32 0 0.00 TRPC6 7225 genome.wustl.edu 37 11 101353715 101353715 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 101353715 101353715 G A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known missense c.1475 p.S492L 1.000 pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 10 29 74.36 64 0 0.00 TRPC7 57113 genome.wustl.edu 37 5 135561831 135561831 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 135561831 135561831 A C SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.2153 p.F718C 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 28 10 26.32 44 0 0.00 TRPC7 57113 genome.wustl.edu 37 5 135567044 135567044 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 135567044 135567044 C G SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.2038 p.E680Q 1.000 prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 27 14 34.15 47 0 0.00 TRPC7 57113 genome.wustl.edu 37 5 135692672 135692672 + Missense_Mutation SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 135692672 135692672 T C SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.404 p.Q135R 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 17 13 43.33 45 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31294254 31294254 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 31294254 31294254 C A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.4700 p.R1567I 0.096 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 76 49 39.20 126 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31295003 31295003 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 15 31295003 31295003 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.3951 p.N1317 0.024 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 31 6 16.22 41 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31295118 31295118 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 31295118 31295118 G C SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.3836 p.S1279C 0.020 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 17 6 26.09 21 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31295133 31295133 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 31295133 31295133 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.3821 p.A1274V 0.772 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 18 17 48.57 53 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31324907 31324907 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 31324907 31324907 C T SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.2988 p.M996I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 39 16 29.09 72 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31324907 31324907 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 31324907 31324907 C T SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.2988 p.M996I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 43 6 12.24 66 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31332543 31332543 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 31332543 31332543 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.2145 p.F715 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 8 8 50.00 30 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31334414 31334414 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 31334414 31334414 C G SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.1878 p.K626N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 28 15 34.88 30 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31341613 31341613 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 31341613 31341613 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.1588 p.L530 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 25 41 62.12 39 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31341662 31341662 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 15 31341662 31341662 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.1539 p.V513 0.930 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 33 9 21.43 26 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31354877 31354877 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 31354877 31354877 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.1045 p.L349F 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 10 8 44.44 16 0 0.00 TRPM1 4308 genome.wustl.edu 37 15 31362146 31362146 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 31362146 31362146 G A SNP TRPM1 ENST00000559179 human ensembl 70_37 -1 putative missense c.301 p.L101F 0.027 NULL NULL - no_errors TRPM1 HGNC ENSG00000134160 49 25 33.78 77 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45789054 45789054 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 45789054 45789054 C A SNP TRPM2 ENST00000498430 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors TRPM2 HGNC ENSG00000142185 26 17 39.53 32 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45798886 45798886 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 45798886 45798886 G T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known missense c.1021 p.D341Y 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 12 6 33.33 18 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45811190 45811190 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 45811190 45811190 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.1476 p.L492 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 65 10 13.16 77 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45815323 45815323 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 45815323 45815323 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.1821 p.L607 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 40 29 42.03 75 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45826479 45826479 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 21 45826479 45826479 G A SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known missense c.2793 p.M931I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 58 24 29.27 72 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45837900 45837900 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 21 45837900 45837900 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.3237 p.A1079 0.107 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 45 28 38.36 57 0 0.00 TRPM2 7226 genome.wustl.edu 37 21 45862910 45862910 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 21 45862910 45862910 C T SNP TRPM2 ENST00000498430 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors TRPM2 HGNC ENSG00000142185 11 18 62.07 18 0 0.00 TRPM3 80036 genome.wustl.edu 37 9 73151768 73151768 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 73151768 73151768 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.4306 p.E1436K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 66 26 28.26 82 0 0.00 TRPM3 80036 genome.wustl.edu 37 9 73225620 73225620 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 73225620 73225620 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.2617 p.E873K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 70 19 21.11 70 0 0.00 TRPM3 80036 genome.wustl.edu 37 9 73296452 73296452 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 73296452 73296452 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.1396 p.D466N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 43 32 42.67 67 0 0.00 TRPM3 80036 genome.wustl.edu 37 9 73458045 73458046 + Splice_Site INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 73458045 73458046 - A INS TRPM3 ENST00000423814 human ensembl 70_37 -1 known splice_site_ins c.683-3_683-2 e5-2 0.995:0.010 - - - no_errors TRPM3 HGNC ENSG00000083067 39 5 11.36 46 0 0.00 TRPM3 80036 genome.wustl.edu 37 9 73461494 73461494 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 73461494 73461494 G T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.482 p.S161Y 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 18 9 33.33 51 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49691917 49691917 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 49691917 49691917 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.1763 p.S588L 0.639 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 60 19 24.05 48 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49693976 49693976 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 49693976 49693976 G T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.2156 p.R719L 0.225 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 29 4 12.12 26 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49713601 49713601 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49713601 49713601 C G SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known silent c.3267 p.L1089 0.967 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 24 10 29.41 37 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49713652 49713652 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 49713652 49713652 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known silent c.3318 p.L1106 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 23 3 11.54 17 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49714020 49714020 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 49714020 49714020 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.3382 p.H1128Y 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 105 27 20.45 119 0 0.00 TRPM4 54795 genome.wustl.edu 37 19 49714276 49714276 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49714276 49714276 G A SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.3466 p.D1156N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 65 19 22.62 61 0 0.00 TRPM5 29850 genome.wustl.edu 37 11 2436530 2436530 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 2436530 2436530 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known missense c.1306 p.R436W 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 10 10 50.00 19 0 0.00 TRPM5 29850 genome.wustl.edu 37 11 2439793 2439793 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 2439793 2439793 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known silent c.684 p.L228 0.835 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 28 10 26.32 42 0 0.00 TRPM5 29850 genome.wustl.edu 37 11 2442305 2442305 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 2442305 2442305 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known missense c.422 p.S141L 0.983 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 3 3 50.00 14 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77339658 77339658 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 77339658 77339658 T G SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.5952 p.L1984F 0.999 superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 8 9 52.94 11 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77353418 77353418 + Missense_Mutation SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 77353418 77353418 A T SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.5693 p.I1898N 0.996 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 89 32 26.23 84 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77376684 77376684 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 77376684 77376684 G A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.4713 p.V1571 0.961 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 44 27 38.03 119 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77377512 77377512 + Nonsense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 9 77377512 77377512 C A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known nonsense c.4075 p.E1359* 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 14 4 22.22 15 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77378029 77378029 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 77378029 77378029 C A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.3558 p.Q1186H 0.915 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 5 4 44.44 11 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77417025 77417025 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 77417025 77417025 C T SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.1798 p.E600K 0.970 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 21 21 50.00 46 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77427293 77427293 + Silent SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 77427293 77427293 A G SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.1365 p.F455 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 58 10 14.71 48 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77435249 77435249 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 77435249 77435249 G A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.1105 p.L369 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 13 4 23.53 26 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77442675 77442675 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 77442675 77442675 G A SNP TRPM6 ENST00000359047 human ensembl 70_37 -1 known missense c.860 p.S287L 0.002 NULL NULL - no_errors TRPM6 HGNC ENSG00000119121 24 22 47.83 53 0 0.00 TRPM6 140803 genome.wustl.edu 37 9 77442675 77442675 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 77442675 77442675 G A SNP TRPM6 ENST00000359047 human ensembl 70_37 -1 known missense c.860 p.S287L 0.002 NULL NULL - no_errors TRPM6 HGNC ENSG00000119121 33 18 34.62 29 0 0.00 TRPM7 54822 genome.wustl.edu 37 15 50868017 50868017 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 50868017 50868017 T A SNP TRPM7 ENST00000560849 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRPM7 HGNC ENSG00000092439 47 7 12.96 64 0 0.00 TRPM7 54822 genome.wustl.edu 37 15 50875324 50875324 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 50875324 50875324 C G SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known missense c.4519 p.D1507H 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 123 42 25.45 141 1 0.70 TRPM7 54822 genome.wustl.edu 37 15 50886709 50886709 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 50886709 50886709 G A SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known missense c.3392 p.P1131L 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 69 13 15.85 80 0 0.00 TRPM7 54822 genome.wustl.edu 37 15 50903387 50903387 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 50903387 50903387 G C SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known nonsense c.2183 p.S728* 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 82 13 13.68 79 0 0.00 TRPM7 54822 genome.wustl.edu 37 15 50904978 50904978 + Missense_Mutation SNP T T C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 15 50904978 50904978 T C SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known missense c.1819 p.I607V 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 54 7 11.48 69 0 0.00 TRPM8 79054 genome.wustl.edu 37 2 234835193 234835193 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 234835193 234835193 G A SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.11 p.R4Q 0.268 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 40 7 14.89 60 0 0.00 TRPM8 79054 genome.wustl.edu 37 2 234869596 234869596 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234869596 234869596 G A SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known silent c.1539 p.K513 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 23 18 43.90 60 0 0.00 TRPM8 79054 genome.wustl.edu 37 2 234873287 234873287 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234873287 234873287 C G SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.1765 p.L589V 0.617 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 23 7 22.58 30 0 0.00 TRPM8 79054 genome.wustl.edu 37 2 234891780 234891780 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 234891780 234891780 G C SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.2673 p.Q891H 0.958 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 60 21 25.93 110 0 0.00 TRPM8 79054 genome.wustl.edu 37 2 234894477 234894477 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 234894477 234894477 C G SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.2907 p.I969M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 26 10 27.78 28 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116430592 116430592 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 116430592 116430592 C T SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.2789 p.C930Y 1.000 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 39 14 26.42 60 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116616305 116616305 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616305 116616305 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known nonsense c.1891 p.Q631* 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 42 24 36.36 68 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116616497 116616497 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616497 116616497 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1699 p.H567Y 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 26 24 48.00 43 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116616498 116616498 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 116616498 116616498 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known silent c.1698 p.L566 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 33 13 28.26 29 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116616498 116616498 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616498 116616498 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known silent c.1698 p.L566 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 26 24 48.00 44 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 47 14 22.95 43 0 0.00 TRPS1 7227 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 51 21 29.17 74 0 0.00 TRPT1 83707 genome.wustl.edu 37 11 63991404 63991404 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 63991404 63991404 C T SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known missense c.712 p.E238K 0.300 NULL pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 67 8 10.67 109 0 0.00 TRPT1 83707 genome.wustl.edu 37 11 63992160 63992160 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 63992160 63992160 C T SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known silent c.363 p.E121 0.993 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 63 41 39.42 96 0 0.00 TRPT1 83707 genome.wustl.edu 37 11 63992435 63992435 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 63992435 63992435 G A SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known silent c.165 p.F55 0.996 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 54 36 39.56 46 0 0.00 TRPV1 7442 genome.wustl.edu 37 17 3477080 3477080 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 3477080 3477080 G A SNP TRPV1 ENST00000399756 human ensembl 70_37 -1 known silent c.1950 p.F650 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 38 17 30.91 71 0 0.00 TRPV2 51393 genome.wustl.edu 37 17 16331655 16331655 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 16331655 16331655 G A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known missense c.1375 p.V459M 0.993 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 54 23 29.49 77 0 0.00 TRPV2 51393 genome.wustl.edu 37 17 16335395 16335395 + Nonsense_Mutation SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 17 16335395 16335395 C A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known nonsense c.1770 p.Y590* 0.011 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 10 4 28.57 14 0 0.00 TRPV2 51393 genome.wustl.edu 37 17 16336993 16336993 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16336993 16336993 G A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known missense c.2095 p.D699N 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 39 7 15.22 57 0 0.00 TRPV3 162514 genome.wustl.edu 37 17 3438998 3438998 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 3438998 3438998 G T SNP TRPV3 ENST00000301365 human ensembl 70_37 -1 known missense c.653 p.A218E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 37 8 17.02 39 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110221470 110221470 + Nonsense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 110221470 110221470 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known nonsense c.2572 p.Q858* 0.901 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 32 16 33.33 67 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110221551 110221551 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110221551 110221551 C T SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.2491 p.E831K 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 73 16 17.98 129 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110222220 110222220 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110222220 110222220 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.2359 p.H787Y 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 116 39 25.16 198 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110226262 110226262 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 110226262 110226262 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known silent c.2151 p.L717 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 36 16 30.77 59 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110236473 110236473 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110236473 110236473 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known silent c.1098 p.L366 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 21 14 40.00 44 0 0.00 TRPV4 59341 genome.wustl.edu 37 12 110238497 110238497 + Missense_Mutation SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 110238497 110238497 T C SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.779 p.Q260R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 20 15 42.86 44 0 0.00 TRPV5 56302 genome.wustl.edu 37 7 142606661 142606661 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 142606661 142606661 G A SNP TRPV5 ENST00000265310 human ensembl 70_37 -1 known silent c.1890 p.F630 1.000 prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 29 9 23.08 28 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142569581 142569581 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 142569581 142569581 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known missense c.2057 p.R686Q 0.995 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 50 14 21.88 85 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142573425 142573425 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 142573425 142573425 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.918 p.Q306 0.994 prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 28 25 46.30 54 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142573658 142573658 + Splice_Site SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 142573658 142573658 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known splice_site c.763-1 e7-1 1.000 - - - no_errors TRPV6 HGNC ENSG00000165125 76 26 25.49 125 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142575435 142575435 + Silent SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 7 142575435 142575435 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.318 p.V106 0.983 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 41 27 39.71 54 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142575713 142575713 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 142575713 142575713 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.195 p.L65 0.990 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 30 25 45.45 46 0 0.00 TRPV6 55503 genome.wustl.edu 37 7 142575713 142575713 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 142575713 142575713 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.195 p.L65 0.990 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 38 22 36.07 74 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98491433 98491433 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98491433 98491433 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 38 18 32.14 31 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98497090 98497090 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 98497090 98497090 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.679 p.E227K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 46 26 36.11 113 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98529255 98529255 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 98529255 98529255 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.3819 p.K1273N 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 26 25 49.02 38 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98547391 98547391 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 98547391 98547391 C T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.5041 p.R1681C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 22 5 18.52 15 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98550892 98550892 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 98550892 98550892 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.5545 p.D1849N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 50 29 36.71 59 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98557093 98557093 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 98557093 98557093 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.6448 p.D2150N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 32 11 25.58 39 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98563429 98563429 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 98563429 98563429 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.7066 p.E2356K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 17 12 41.38 47 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98579413 98579413 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 98579413 98579413 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known nonsense c.8635 p.E2879* 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 63 15 19.23 58 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98580932 98580932 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 98580932 98580932 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.8851 p.A2951T 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 51 6 10.53 44 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98581100 98581100 + Missense_Mutation SNP G G T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 7 98581100 98581100 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9019 p.G3007C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 34 4 10.53 38 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98581869 98581869 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 98581869 98581869 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9188 p.R3063Q 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 27 21 43.75 64 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98589764 98589764 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 98589764 98589764 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9773 p.G3258A 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 38 15 28.30 53 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98592351 98592351 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 98592351 98592351 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.10147 p.E3383Q 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 43 30 41.10 57 0 0.00 TRRAP 8295 genome.wustl.edu 37 7 98609721 98609721 + Silent SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 98609721 98609721 C A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known silent c.11323 p.R3775 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 12 3 20.00 20 0 0.00 TRUB1 142940 genome.wustl.edu 37 10 116698257 116698257 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 116698257 116698257 C T SNP TRUB1 ENST00000298746 human ensembl 70_37 +1 known missense c.245 p.S82L 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 41 23 35.94 75 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131071960 131071960 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131071960 131071960 G C SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known missense c.865 p.Q289E 0.993 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 25 9 26.47 17 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131071960 131071960 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 131071960 131071960 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known nonsense c.865 p.Q289* 0.993 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 24 17 41.46 38 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131072039 131072039 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131072039 131072039 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known silent c.786 p.F262 0.985 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 34 10 22.73 35 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131072104 131072104 + Missense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 9 131072104 131072104 C G SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known missense c.721 p.E241Q 1.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 39 13 25.00 46 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131073194 131073194 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131073194 131073194 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known silent c.642 p.L214 0.953 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 55 14 20.29 43 0 0.00 TRUB2 26995 genome.wustl.edu 37 9 131079472 131079472 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 131079472 131079472 C T SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known missense c.275 p.G92D 0.995 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 19 4 17.39 26 0 0.00 TSACC 128229 genome.wustl.edu 37 1 156309577 156309577 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 156309577 156309577 G A SNP TSACC ENST00000368251 human ensembl 70_37 +1 known missense c.29 p.R10K 0.103 NULL NULL - no_errors TSACC HGNC ENSG00000163467 68 9 11.69 73 0 0.00 TSC1 7248 genome.wustl.edu 37 9 135781123 135781123 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135781123 135781123 C A SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known missense c.1842 p.K614N 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 26 23 46.94 57 0 0.00 TSC1 7248 genome.wustl.edu 37 9 135797308 135797308 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 135797308 135797308 G C SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known silent c.561 p.L187 0.998 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 30 10 25.00 53 0 0.00 TSC1 7248 genome.wustl.edu 37 9 135801105 135801105 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 9 135801105 135801105 C T SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 19 6 24.00 67 0 0.00 TSC1 7248 genome.wustl.edu 37 9 135801121 135801121 + Silent SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 135801121 135801121 G C SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known silent c.216 p.L72 1.000 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 28 6 17.14 27 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2098751 2098751 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 2098751 2098751 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.135 p.L45 1.000 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 63 20 24.10 82 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2103360 2103360 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2103360 2103360 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.243 p.L81 0.739 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 16 2 11.11 15 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2106737 2106737 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 2106737 2106737 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.741 p.I247 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 218 28 11.34 209 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2108835 2108835 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 2108835 2108835 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.936 p.L312 0.999 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 25 13 34.21 39 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2111884 2111884 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 2111884 2111884 C A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.1132 p.P378T 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 71 25 26.04 96 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2115600 2115600 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 2115600 2115600 G T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.1680 p.V560 1.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 134 59 30.41 175 1 0.57 TSC2 7249 genome.wustl.edu 37 16 2115600 2115600 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 2115600 2115600 G T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.1680 p.V560 1.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 18 8 30.77 20 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2121565 2121565 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 16 2121565 2121565 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.1894 p.P632S 1.000 pfam_Tuberin-type_domain pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 29 62 68.13 71 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2129076 2129076 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2129076 2129076 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.3010 p.D1004N 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 88 40 31.25 56 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2129132 2129132 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2129132 2129132 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3066 p.L1022 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 56 30 34.88 98 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2129136 2129136 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2129136 2129136 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.3070 p.E1024K 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 47 32 40.51 65 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2129168 2129168 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2129168 2129168 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3102 p.V1034 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 58 24 28.92 87 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2129355 2129355 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2129355 2129355 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3210 p.T1070 0.056 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 73 24 24.74 52 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2131603 2131603 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 2131603 2131603 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3618 p.T1206 0.989 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 41 12 22.22 51 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2136841 2136841 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 2136841 2136841 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.4958 p.S1653F 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 27 12 30.77 87 0 0.00 TSC2 7249 genome.wustl.edu 37 16 2137872 2137872 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 2137872 2137872 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.4998 p.F1666L 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 21 6 22.22 39 0 0.00 TSC22D1 8848 genome.wustl.edu 37 13 45148542 45148542 + Nonsense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 45148542 45148542 G A SNP TSC22D1 ENST00000458659 human ensembl 70_37 -1 known nonsense c.1669 p.Q557* 0.997 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 33 10 23.26 58 0 0.00 TSC22D2 9819 genome.wustl.edu 37 3 150127342 150127342 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 150127342 150127342 G C SNP TSC22D2 ENST00000361875 human ensembl 70_37 +1 known missense c.205 p.E69Q 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 47 23 32.86 77 0 0.00 TSC22D2 9819 genome.wustl.edu 37 3 150127938 150127938 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 150127938 150127938 G A SNP TSC22D2 ENST00000361875 human ensembl 70_37 +1 known silent c.801 p.Q267 0.018 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 28 6 17.65 20 0 0.00 TSC22D3 1831 genome.wustl.edu 37 X 106959164 106959164 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 106959164 106959164 C T SNP TSC22D3 ENST00000315660 human ensembl 70_37 -1 known missense c.337 p.V113M 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 34 11 24.44 77 0 0.00 TSC22D3 1831 genome.wustl.edu 37 X 107018613 107018613 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 107018613 107018613 C T SNP TSC22D3 ENST00000315660 human ensembl 70_37 -1 known missense c.37 p.G13S 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 23 5 17.86 44 0 0.00 TSC22D4 81628 genome.wustl.edu 37 7 100074917 100074917 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100074917 100074917 G C SNP TSC22D4 ENST00000300181 human ensembl 70_37 -1 known missense c.745 p.P249A 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 52 14 21.21 53 0 0.00 TSC22D4 81628 genome.wustl.edu 37 7 100075164 100075164 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 100075164 100075164 G T SNP TSC22D4 ENST00000300181 human ensembl 70_37 -1 known missense c.498 p.F166L 0.614 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 7 3 30.00 22 0 0.00 TSEN15 116461 genome.wustl.edu 37 1 184023932 184023932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 184023932 184023932 G T SNP TSEN15 ENST00000361641 human ensembl 70_37 +1 known missense c.288 p.E96D 0.998 pfam_tRNA-endonuc_su_Sen15 pfam_tRNA-endonuc_su_Sen15 - no_errors TSEN15 HGNC ENSG00000198860 25 14 35.90 75 0 0.00 TSEN2 80746 genome.wustl.edu 37 3 12544918 12544918 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 12544918 12544918 G A SNP TSEN2 ENST00000284995 human ensembl 70_37 +1 known missense c.466 p.G156R 0.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 55 14 20.29 41 0 0.00 TSEN2 80746 genome.wustl.edu 37 3 12544919 12544919 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 12544919 12544919 G A SNP TSEN2 ENST00000284995 human ensembl 70_37 +1 known missense c.467 p.G156E 0.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 58 14 19.44 41 0 0.00 TSEN34 79042 genome.wustl.edu 37 19 54697142 54697142 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 54697142 54697142 G C SNP TSEN34 ENST00000429671 human ensembl 70_37 +1 known missense c.858 p.K286N 1.000 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 70 23 24.73 66 0 0.00 TSEN54 283989 genome.wustl.edu 37 17 73517555 73517555 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73517555 73517555 G C SNP TSEN54 ENST00000333213 human ensembl 70_37 +1 known missense c.587 p.G196A 0.000 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 32 11 25.58 40 0 0.00 TSEN54 283989 genome.wustl.edu 37 17 73518281 73518281 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 17 73518281 73518281 G T SNP TSEN54 ENST00000333213 human ensembl 70_37 +1 known missense c.1119 p.Q373H 0.996 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 10 3 23.08 26 0 0.00 TSFM 10102 genome.wustl.edu 37 12 58179958 58179958 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 58179958 58179958 C T SNP TSFM ENST00000323833 human ensembl 70_37 +1 known missense c.244 p.L82F 1.000 NULL pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N - no_errors TSFM HGNC ENSG00000123297 18 9 33.33 54 0 0.00 TSFM 10102 genome.wustl.edu 37 12 58190249 58190249 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 12 58190249 58190249 G A SNP TSFM ENST00000323833 human ensembl 70_37 +1 known silent c.924 p.P308 0.000 pfam_Transl_elong_EFTs/EF1B_dimer pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N - no_errors TSFM HGNC ENSG00000123297 30 19 38.78 56 0 0.00 TSGA10 80705 genome.wustl.edu 37 2 99688285 99688285 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 99688285 99688285 G A SNP TSGA10 ENST00000355053 human ensembl 70_37 -1 known missense c.991 p.R331W 0.669 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 121 44 26.67 205 1 0.49 TSGA10 80705 genome.wustl.edu 37 2 99695290 99695290 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 99695290 99695290 C G SNP TSGA10 ENST00000489546 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TSGA10 HGNC ENSG00000135951 27 15 35.71 40 0 0.00 TSGA10 80705 genome.wustl.edu 37 2 99721839 99721839 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99721839 99721839 C G SNP TSGA10 ENST00000355053 human ensembl 70_37 -1 known missense c.442 p.E148Q 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 7 13 65.00 20 0 0.00 TSGA10 80705 genome.wustl.edu 37 2 99757576 99757576 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 99757576 99757576 C T SNP TSGA10 ENST00000489926 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TSGA10 HGNC ENSG00000135951 64 13 16.88 35 0 0.00 TSGA10IP 254187 genome.wustl.edu 37 11 65715065 65715065 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 65715065 65715065 G C SNP TSGA10IP ENST00000532620 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors TSGA10IP HGNC ENSG00000175513 5 5 50.00 23 0 0.00 TSGA13 114960 genome.wustl.edu 37 7 130356546 130356546 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 130356546 130356546 G C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known missense c.613 p.Q205E 0.994 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 23 32 58.18 102 0 0.00 TSGA13 114960 genome.wustl.edu 37 7 130357681 130357681 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 130357681 130357681 G C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known silent c.423 p.L141 0.000 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 58 7 10.77 55 0 0.00 TSGA13 114960 genome.wustl.edu 37 7 130365827 130365827 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 130365827 130365827 A C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known missense c.131 p.F44C 0.998 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 27 15 35.71 43 0 0.00 TSHR 7253 genome.wustl.edu 37 14 81422242 81422242 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 14 81422242 81422242 C G SNP TSHR ENST00000557096 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors TSHR HGNC ENSG00000165409 16 12 42.86 30 0 0.00 TSHR 7253 genome.wustl.edu 37 14 81534646 81534646 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 81534646 81534646 C T SNP TSHR ENST00000298171 human ensembl 70_37 +1 known silent c.291 p.F97 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 30 9 23.08 49 0 0.00 TSHZ1 10194 genome.wustl.edu 37 18 72998082 72998082 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 72998082 72998082 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known silent c.720 p.F240 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 32 15 31.91 42 0 0.00 TSHZ1 10194 genome.wustl.edu 37 18 72999335 72999335 + Missense_Mutation SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 18 72999335 72999335 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known missense c.1973 p.P658L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 14 3 17.65 11 0 0.00 TSHZ1 10194 genome.wustl.edu 37 18 72999842 72999842 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 18 72999842 72999842 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known missense c.2480 p.S827L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 19 11 36.67 29 0 0.00 TSHZ1 10194 genome.wustl.edu 37 18 72999996 72999996 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 72999996 72999996 G A SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known silent c.2634 p.E878 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 12 6 33.33 21 0 0.00 TSHZ2 128553 genome.wustl.edu 37 20 51870650 51870650 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 20 51870650 51870650 G A SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.653 p.R218Q 0.998 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 27 7 20.00 39 0 0.00 TSHZ2 128553 genome.wustl.edu 37 20 51871025 51871025 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 51871025 51871025 C A SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.1028 p.S343Y 0.449 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 16 9 36.00 32 0 0.00 TSHZ2 128553 genome.wustl.edu 37 20 51872272 51872272 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 51872272 51872272 G C SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.2275 p.E759Q 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 115 29 20.14 206 0 0.00 TSHZ3 57616 genome.wustl.edu 37 19 31770279 31770279 + Silent SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 31770279 31770279 C T SNP TSHZ3 ENST00000240587 human ensembl 70_37 -1 known silent c.420 p.Q140 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 102 13 11.21 70 0 0.00 TSHZ3 57616 genome.wustl.edu 37 19 31770291 31770291 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 31770291 31770291 G A SNP TSHZ3 ENST00000240587 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 26 33 55.00 61 0 0.00 TSHZ3 57616 genome.wustl.edu 37 19 31770571 31770571 + Missense_Mutation SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 31770571 31770571 G C SNP TSHZ3 ENST00000240587 human ensembl 70_37 -1 known missense c.128 p.A43G 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 48 12 20.00 51 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50243365 50243365 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50243365 50243365 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.1573 p.E525K 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 18 5 21.74 25 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50243366 50243366 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 50243366 50243366 G A SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.1572 p.D524 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 45 7 13.46 36 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50249909 50249909 + Nonsense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249909 50249909 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known nonsense c.810 p.W270* 0.261 NULL NULL - no_errors TSKS HGNC ENSG00000126467 31 8 20.51 25 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50249926 50249926 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249926 50249926 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.793 p.E265K 0.998 NULL NULL - no_errors TSKS HGNC ENSG00000126467 25 8 24.24 24 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50249944 50249944 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 50249944 50249944 C G SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.775 p.E259Q 0.382 NULL NULL - no_errors TSKS HGNC ENSG00000126467 22 8 26.67 20 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50250006 50250006 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 50250006 50250006 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.713 p.R238Q 0.975 NULL NULL - no_errors TSKS HGNC ENSG00000126467 42 7 14.29 24 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50265447 50265447 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 50265447 50265447 C G SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.213 p.L71 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 31 22 41.51 56 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50266447 50266447 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50266447 50266447 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.58 p.D20N 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 38 12 24.00 29 0 0.00 TSKS 60385 genome.wustl.edu 37 19 50266487 50266487 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50266487 50266487 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.18 p.V6 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 37 11 22.92 24 0 0.00 TSN 7247 genome.wustl.edu 37 2 122516333 122516333 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 122516333 122516333 A G SNP TSN ENST00000389682 human ensembl 70_37 +1 known missense c.208 p.T70A 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 29 4 12.12 35 0 0.00 TSNARE1 203062 genome.wustl.edu 37 8 143361248 143361248 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 143361248 143361248 C T SNP TSNARE1 ENST00000521825 human ensembl 70_37 -1 putative rna NULL NULL 0.078 - - - no_errors TSNARE1 HGNC ENSG00000171045 22 7 24.14 20 0 0.00 TSNARE1 203062 genome.wustl.edu 37 8 143425329 143425329 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 143425329 143425329 C G SNP TSNARE1 ENST00000307180 human ensembl 70_37 -1 known missense c.743 p.R248T 0.907 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 52 14 21.21 62 0 0.00 TSNAX 7257 genome.wustl.edu 37 1 231699372 231699372 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 231699372 231699372 G C SNP TSNAX ENST00000475168 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSNAX HGNC ENSG00000116918 13 4 23.53 15 0 0.00 TSNAXIP1 55815 genome.wustl.edu 37 16 67841097 67841097 + Silent SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 67841097 67841097 G C SNP TSNAXIP1 ENST00000568990 human ensembl 70_37 +1 known silent c.45 p.S15 0.099 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 44 15 25.42 44 0 0.00 TSNAXIP1 55815 genome.wustl.edu 37 16 67855080 67855080 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 67855080 67855080 C G SNP TSNAXIP1 ENST00000563363 human ensembl 70_37 +1 known missense c.226 p.P76A 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 39 8 17.02 56 0 0.00 TSPAN1 10103 genome.wustl.edu 37 1 46650192 46650192 + RNA DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 46650192 46650192 G - DEL TSPAN1 ENST00000482143 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 41 15 26.79 73 0 0.00 TSPAN1 10103 genome.wustl.edu 37 1 46651335 46651335 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 46651335 46651335 C G SNP TSPAN1 ENST00000470318 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors TSPAN1 HGNC ENSG00000117472 23 7 23.33 39 0 0.00 TSPAN10 83882 genome.wustl.edu 37 17 79613521 79613521 + RNA SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 79613521 79613521 C T SNP TSPAN10 ENST00000571707 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TSPAN10 HGNC ENSG00000182612 37 22 37.29 25 0 0.00 TSPAN11 441631 genome.wustl.edu 37 12 31116776 31116776 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 31116776 31116776 G A SNP TSPAN11 ENST00000261177 human ensembl 70_37 +1 known missense c.100 p.V34I 0.937 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 66 21 24.14 124 0 0.00 TSPAN13 27075 genome.wustl.edu 37 7 16816705 16816705 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 16816705 16816705 T G SNP TSPAN13 ENST00000262067 human ensembl 70_37 +1 known missense c.270 p.F90L 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 30 11 26.83 70 0 0.00 TSPAN14 81619 genome.wustl.edu 37 10 82267046 82267046 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 82267046 82267046 C T SNP TSPAN14 ENST00000372156 human ensembl 70_37 +1 known silent c.195 p.V65 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN14 HGNC ENSG00000108219 91 25 21.37 107 0 0.00 TSPAN14 81619 genome.wustl.edu 37 10 82277895 82277895 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 82277895 82277895 G T SNP TSPAN14 ENST00000265450 human ensembl 70_37 +1 known rna NULL NULL 0.871 - - - no_errors TSPAN14 HGNC ENSG00000108219 13 12 48.00 35 0 0.00 TSPAN14 81619 genome.wustl.edu 37 10 82279344 82279344 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 82279344 82279344 C G SNP TSPAN14 ENST00000265450 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 43 31 41.33 39 0 0.00 TSPAN15 23555 genome.wustl.edu 37 10 71255381 71255381 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 71255381 71255381 G C SNP TSPAN15 ENST00000373290 human ensembl 70_37 +1 known missense c.389 p.R130T 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN15 HGNC ENSG00000099282 34 6 15.00 49 0 0.00 TSPAN15 23555 genome.wustl.edu 37 10 71267213 71267213 + RNA SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 71267213 71267213 C G SNP TSPAN15 ENST00000463840 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors TSPAN15 HGNC ENSG00000099282 18 12 40.00 36 0 0.00 TSPAN19 144448 genome.wustl.edu 37 12 85411359 85411359 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 85411359 85411359 T C SNP TSPAN19 ENST00000532498 human ensembl 70_37 -1 known missense c.470 p.H157R 0.028 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 12 8 40.00 20 0 0.00 TSPAN2 10100 genome.wustl.edu 37 1 115601508 115601508 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 115601508 115601508 G A SNP TSPAN2 ENST00000369516 human ensembl 70_37 -1 known missense c.440 p.S147L 0.956 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC ENSG00000134198 57 21 26.92 86 0 0.00 TSPAN31 6302 genome.wustl.edu 37 12 58140209 58140209 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 58140209 58140209 G A SNP TSPAN31 ENST00000550528 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors TSPAN31 HGNC ENSG00000135452 9 8 47.06 14 0 0.00 TSPAN33 340348 genome.wustl.edu 37 7 128807381 128807381 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 128807381 128807381 C G SNP TSPAN33 ENST00000289407 human ensembl 70_37 +1 known missense c.730 p.L244V 0.994 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN33 HGNC ENSG00000158457 48 39 44.83 53 0 0.00 TSPAN4 7106 genome.wustl.edu 37 11 862623 862623 + Missense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 862623 862623 C G SNP TSPAN4 ENST00000397397 human ensembl 70_37 +1 known missense c.137 p.S46C 0.789 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC ENSG00000214063 4 16 80.00 68 0 0.00 TSPAN4 7106 genome.wustl.edu 37 11 865927 865927 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 865927 865927 G A SNP TSPAN4 ENST00000397397 human ensembl 70_37 +1 known missense c.574 p.E192K 0.993 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC ENSG00000214063 63 19 23.17 72 0 0.00 TSPAN5 10098 genome.wustl.edu 37 4 99397456 99397456 + Missense_Mutation SNP C C G TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 4 99397456 99397456 C G SNP TSPAN5 ENST00000305798 human ensembl 70_37 -1 known missense c.625 p.E209Q 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 57 7 10.94 54 0 0.00 TSPAN5 10098 genome.wustl.edu 37 4 99407914 99407914 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 99407914 99407914 C T SNP TSPAN5 ENST00000305798 human ensembl 70_37 -1 known missense c.254 p.R85Q 0.998 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 57 19 25.00 65 0 0.00 TSPAN7 7102 genome.wustl.edu 37 X 38533571 38533571 + Splice_Site SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 38533571 38533571 G A SNP TSPAN7 ENST00000422612 human ensembl 70_37 +1 known splice_site c.519+1 e5+1 1.000 - - - no_errors TSPAN7 HGNC ENSG00000156298 31 15 32.61 52 0 0.00 TSPAN7 7102 genome.wustl.edu 37 X 38535082 38535082 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 38535082 38535082 C G SNP TSPAN7 ENST00000422612 human ensembl 70_37 +1 known missense c.643 p.L215V 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 27 8 22.86 37 0 0.00 TSPAN8 7103 genome.wustl.edu 37 12 71526553 71526553 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 71526553 71526553 G C SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.496 p.Q166E 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 106 42 28.38 166 0 0.00 TSPAN8 7103 genome.wustl.edu 37 12 71531992 71531992 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 71531992 71531992 G C SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.280 p.L94V 0.978 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 14 5 25.00 15 0 0.00 TSPAN8 7103 genome.wustl.edu 37 12 71537942 71537942 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 71537942 71537942 C T SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.112 p.D38N 0.015 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 49 10 16.95 79 0 0.00 TSPAN8 7103 genome.wustl.edu 37 12 71537959 71537959 + Missense_Mutation SNP C C A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 71537959 71537959 C A SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.95 p.W32L 0.972 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 25 4 13.79 66 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45924684 45924684 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 45924684 45924684 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1835 p.S612L 0.913 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 12 4 25.00 16 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45924701 45924701 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 21 45924701 45924701 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known silent c.1818 p.F606 0.801 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 16 16 50.00 28 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45924730 45924730 + Missense_Mutation SNP C C A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 21 45924730 45924730 C A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1789 p.D597Y 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 19 11 36.67 27 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45929254 45929254 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 45929254 45929254 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1582 p.D528N 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 38 7 15.56 43 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45945555 45945555 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 45945555 45945555 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known silent c.1317 p.A439 0.696 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 33 18 35.29 54 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45953608 45953608 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 45953608 45953608 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.502 p.V168I 0.013 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 39 37 48.05 77 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45953680 45953680 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 45953680 45953680 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known nonsense c.430 p.R144* 0.101 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 26 8 23.53 34 0 0.00 TSPEAR 54084 genome.wustl.edu 37 21 45987772 45987773 + Frame_Shift_Ins INS - - G TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 21 45987772 45987773 - G INS TSPEAR ENST00000323084 human ensembl 70_37 -1 known frame_shift_ins c.200_199 p.R67fs 0.067:0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 33 15 31.25 31 0 0.00 TSPYL1 7259 genome.wustl.edu 37 6 116600170 116600170 + Missense_Mutation SNP A A T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 116600170 116600170 A T SNP TSPYL1 ENST00000368608 human ensembl 70_37 -1 known missense c.824 p.I275N 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 1 15 93.75 9 0 0.00 TSPYL2 64061 genome.wustl.edu 37 X 53113756 53113756 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 53113756 53113756 G C SNP TSPYL2 ENST00000375442 human ensembl 70_37 +1 known missense c.837 p.L279F 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 73 36 33.03 82 0 0.00 TSPYL2 64061 genome.wustl.edu 37 X 53114244 53114244 + Nonsense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 53114244 53114244 C G SNP TSPYL2 ENST00000375442 human ensembl 70_37 +1 known nonsense c.1106 p.S369* 0.994 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 15 7 31.82 27 0 0.00 TSPYL4 23270 genome.wustl.edu 37 6 116574253 116574253 + Nonsense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 116574253 116574253 G A SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known nonsense c.919 p.R307* 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 25 15 37.50 61 0 0.00 TSPYL4 23270 genome.wustl.edu 37 6 116574447 116574447 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116574447 116574447 C T SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known missense c.725 p.R242H 0.998 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 5 4 44.44 26 0 0.00 TSPYL4 23270 genome.wustl.edu 37 6 116575098 116575098 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 116575098 116575098 G C SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known nonsense c.74 p.S25* 0.005 NULL pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 24 17 41.46 26 0 0.00 TSPYL5 85453 genome.wustl.edu 37 8 98289031 98289031 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 98289031 98289031 G A SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.1042 p.R348C 0.243 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 151 23 13.22 175 0 0.00 TSPYL5 85453 genome.wustl.edu 37 8 98289174 98289174 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 98289174 98289174 C T SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.899 p.R300H 0.764 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 51 15 22.73 101 0 0.00 TSPYL5 85453 genome.wustl.edu 37 8 98289400 98289400 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 98289400 98289400 G A SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.673 p.R225W 0.678 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 16 6 27.27 29 0 0.00 TSPYL5 85453 genome.wustl.edu 37 8 98289988 98289988 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 98289988 98289988 G C SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.85 p.P29A 0.027 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 39 12 23.08 33 0 0.00 TSPYL6 388951 genome.wustl.edu 37 2 54482100 54482100 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 54482100 54482100 C T SNP TSPYL6 ENST00000317802 human ensembl 70_37 -1 known missense c.1189 p.E397K 0.126 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 25 13 34.21 38 0 0.00 TSR1 55720 genome.wustl.edu 37 17 2236281 2236281 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 2236281 2236281 C T SNP TSR1 ENST00000301364 human ensembl 70_37 -1 known missense c.1279 p.E427K 0.998 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 53 8 13.11 52 0 0.00 TSR1 55720 genome.wustl.edu 37 17 2237775 2237775 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2237775 2237775 C T SNP TSR1 ENST00000301364 human ensembl 70_37 -1 known missense c.972 p.M324I 0.793 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 38 6 13.64 53 0 0.00 TSR2 90121 genome.wustl.edu 37 X 54470860 54470860 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 54470860 54470860 G A SNP TSR2 ENST00000375151 human ensembl 70_37 +1 known silent c.453 p.T151 0.086 NULL pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 14 15 51.72 31 0 0.00 TSR3 115939 genome.wustl.edu 37 16 1400917 1400917 + Silent SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 1400917 1400917 C A SNP TSR3 ENST00000007390 human ensembl 70_37 -1 known silent c.417 p.G139 0.000 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 35 19 35.19 68 0 0.00 TSR3 115939 genome.wustl.edu 37 16 1400941 1400941 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 1400941 1400941 C A SNP TSR3 ENST00000007390 human ensembl 70_37 -1 known missense c.393 p.E131D 1.000 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 32 21 39.62 48 0 0.00 TSSC1 7260 genome.wustl.edu 37 2 3217970 3217970 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 3217970 3217970 C T SNP TSSC1 ENST00000382125 human ensembl 70_37 -1 known missense c.466 p.D156N 0.997 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 22 11 33.33 78 0 0.00 TSSC1 7260 genome.wustl.edu 37 2 3323586 3323586 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 3323586 3323586 G A SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.735 - - - no_errors TSSC1 HGNC ENSG00000032389 20 8 28.57 16 0 0.00 TSSC1 7260 genome.wustl.edu 37 2 3323588 3323588 + RNA SNP A A C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 3323588 3323588 A C SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors TSSC1 HGNC ENSG00000032389 20 11 35.48 18 0 0.00 TSSC1 7260 genome.wustl.edu 37 2 3323593 3323593 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 3323593 3323593 C T SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors TSSC1 HGNC ENSG00000032389 40 7 14.89 22 0 0.00 TSSC1 7260 genome.wustl.edu 37 2 3323594 3323594 + RNA SNP A A G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 3323594 3323594 A G SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors TSSC1 HGNC ENSG00000032389 38 8 17.39 22 0 0.00 TSSC2 7261 genome.wustl.edu 37 11 3426097 3426097 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 3426097 3426097 G A SNP TSSC2 ENST00000533775 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC ENSG00000223756 54 31 36.47 187 0 0.00 TSSC2 7261 genome.wustl.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 3427845 3427845 C T SNP TSSC2 ENST00000529482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC ENSG00000223756 24 9 27.27 52 0 0.00 TSSC2 7261 genome.wustl.edu 37 11 3430130 3430130 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 3430130 3430130 G C SNP TSSC2 ENST00000529482 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TSSC2 HGNC ENSG00000223756 75 28 27.18 73 0 0.00 TSSC4 10078 genome.wustl.edu 37 11 2424288 2424288 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 11 2424288 2424288 G A SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.425 p.R142Q 0.003 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 20 3 13.04 23 0 0.00 TSSC4 10078 genome.wustl.edu 37 11 2424430 2424430 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 2424430 2424430 G C SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.567 p.Q189H 0.001 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 44 19 30.16 76 0 0.00 TSSC4 10078 genome.wustl.edu 37 11 2424522 2424522 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 2424522 2424522 G A SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.659 p.R220Q 0.044 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 53 21 28.38 88 0 0.00 TSSC4 10078 genome.wustl.edu 37 11 2424570 2424570 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 2424570 2424570 G C SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.707 p.G236A 0.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 54 23 29.87 98 0 0.00 TSSC4 10078 genome.wustl.edu 37 11 2424850 2424850 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 2424850 2424850 C G SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known silent c.987 p.V329 0.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 116 79 40.51 99 0 0.00 TSSK1B 83942 genome.wustl.edu 37 5 112770223 112770223 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 112770223 112770223 C T SNP TSSK1B ENST00000390666 human ensembl 70_37 -1 known missense c.314 p.R105Q 0.177 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 29 14 32.56 66 0 0.00 TSSK2 23617 genome.wustl.edu 37 22 19119974 19119974 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 19119974 19119974 G T SNP TSSK2 ENST00000399635 human ensembl 70_37 +1 known silent c.1062 p.G354 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 22 4 15.38 26 0 0.00 TSSK4 283629 genome.wustl.edu 37 14 24676444 24676444 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 14 24676444 24676444 C T SNP TSSK4 ENST00000339917 human ensembl 70_37 +1 known missense c.563 p.P188L 0.003 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TSSK4 HGNC ENSG00000139908 67 35 34.31 151 0 0.00 TSSK6 83983 genome.wustl.edu 37 19 19625906 19625906 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 19625906 19625906 G C SNP TSSK6 ENST00000360913 human ensembl 70_37 -1 known missense c.331 p.Q111E 0.863 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TSSK6 HGNC ENSG00000178093 23 7 23.33 14 0 0.00 TSSK6 83983 genome.wustl.edu 37 19 19626097 19626097 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 19626097 19626097 C T SNP TSSK6 ENST00000360913 human ensembl 70_37 -1 known missense c.140 p.R47Q 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TSSK6 HGNC ENSG00000178093 33 16 32.65 55 0 0.00 TST 7263 genome.wustl.edu 37 22 37407280 37407280 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 37407280 37407280 C T SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.682 p.E228K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 57 18 24.00 65 0 0.00 TST 7263 genome.wustl.edu 37 22 37414596 37414596 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 37414596 37414596 C G SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.178 p.D60H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 4 2 33.33 10 0 0.00 TST 7263 genome.wustl.edu 37 22 37414661 37414661 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 37414661 37414661 G A SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.113 p.S38L 0.220 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 19 11 36.67 43 0 0.00 TSTA3 7264 genome.wustl.edu 37 8 144696865 144696865 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144696865 144696865 G A SNP TSTA3 ENST00000425753 human ensembl 70_37 -1 known silent c.393 p.I131 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 37 39 51.32 51 0 0.00 TSTD2 158427 genome.wustl.edu 37 9 100368457 100368457 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 100368457 100368457 G C SNP TSTD2 ENST00000341170 human ensembl 70_37 -1 known missense c.922 p.L308V 0.998 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 30 21 41.18 57 0 0.00 TSTD3 100130890 genome.wustl.edu 37 6 99979292 99979292 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 99979292 99979292 G A SNP TSTD3 ENST00000452647 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors TSTD3 HGNC ENSG00000228439 21 7 24.14 64 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43221331 43221331 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43221331 43221331 G A SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.356 p.R119H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 53 14 20.90 39 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43230635 43230635 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 43230635 43230635 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known silent c.1533 p.R511 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 87 35 28.46 142 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43230657 43230657 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43230657 43230657 G C SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.1555 p.E519Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 48 32 40.00 102 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43230717 43230717 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 6 43230717 43230717 G A SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.1615 p.D539N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 30 10 25.00 45 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43237400 43237400 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 43237400 43237400 C T SNP TTBK1 ENST00000304139 human ensembl 70_37 +1 putative silent c.1713 p.L571 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 117 64 35.36 86 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43237552 43237552 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43237552 43237552 G A SNP TTBK1 ENST00000304139 human ensembl 70_37 +1 putative silent c.1865 p.*622 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 38 27 41.54 58 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43250774 43250774 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43250774 43250774 G A SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.2296 p.E766K 0.904 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 12 5 29.41 13 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43251427 43251427 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 43251427 43251427 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known silent c.2949 p.L983 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 52 19 26.76 68 0 0.00 TTBK1 84630 genome.wustl.edu 37 6 43251852 43251852 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 43251852 43251852 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.3374 p.S1125L 0.995 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 17 3 15.00 10 0 0.00 TTBK2 146057 genome.wustl.edu 37 15 43044395 43044395 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43044395 43044395 C G SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.3049 p.E1017Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 82 19 18.81 102 0 0.00 TTBK2 146057 genome.wustl.edu 37 15 43045109 43045109 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43045109 43045109 C G SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.2335 p.E779Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 39 33 45.83 46 0 0.00 TTBK2 146057 genome.wustl.edu 37 15 43069311 43069311 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43069311 43069311 A C SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.1327 p.L443V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 15 8 34.78 31 0 0.00 TTBK2 146057 genome.wustl.edu 37 15 43069344 43069344 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 43069344 43069344 G C SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.1294 p.Q432E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 17 9 34.62 18 0 0.00 TTBK2 146057 genome.wustl.edu 37 15 43103915 43103915 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 43103915 43103915 G T SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.667 p.Q223K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 31 7 18.42 34 0 0.00 TTC12 54970 genome.wustl.edu 37 11 113212396 113212396 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 113212396 113212396 C T SNP TTC12 ENST00000478125 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors TTC12 HGNC ENSG00000149292 4 5 55.56 11 0 0.00 TTC12 54970 genome.wustl.edu 37 11 113230727 113230727 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 113230727 113230727 G A SNP TTC12 ENST00000314756 human ensembl 70_37 +1 known silent c.1611 p.L537 0.983 superfamily_ARM-type_fold pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 14 5 26.32 19 0 0.00 TTC12 54970 genome.wustl.edu 37 11 113238961 113238961 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 113238961 113238961 G C SNP TTC12 ENST00000314756 human ensembl 70_37 +1 known missense c.2095 p.E699Q 0.000 NULL pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 50 26 34.21 67 0 0.00 TTC16 158248 genome.wustl.edu 37 9 130479949 130479949 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130479949 130479949 C G SNP TTC16 ENST00000373289 human ensembl 70_37 +1 known silent c.324 p.L108 0.996 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 16 4 20.00 49 0 0.00 TTC16 158248 genome.wustl.edu 37 9 130486698 130486698 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486698 130486698 C G SNP TTC16 ENST00000393748 human ensembl 70_37 +1 known missense c.644 p.S215C 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 42 9 17.65 50 0 0.00 TTC16 158248 genome.wustl.edu 37 9 130486698 130486698 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486698 130486698 C G SNP TTC16 ENST00000393748 human ensembl 70_37 +1 known missense c.644 p.S215C 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 8 2 20.00 29 0 0.00 TTC16 158248 genome.wustl.edu 37 9 130486938 130486938 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486938 130486938 C G SNP TTC16 ENST00000488285 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC16 HGNC ENSG00000167094 50 7 12.28 28 0 0.00 TTC16 158248 genome.wustl.edu 37 9 130493590 130493590 + Nonsense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 130493590 130493590 C G SNP TTC16 ENST00000373289 human ensembl 70_37 +1 known nonsense c.2528 p.S843* 0.001 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 13 19 59.38 28 0 0.00 TTC17 55761 genome.wustl.edu 37 11 43400840 43400840 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 43400840 43400840 G T SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known nonsense c.217 p.E73* 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 22 15 40.54 52 0 0.00 TTC17 55761 genome.wustl.edu 37 11 43411241 43411241 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 43411241 43411241 G C SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.289 p.E97Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 34 16 32.00 44 0 0.00 TTC17 55761 genome.wustl.edu 37 11 43411246 43411246 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 43411246 43411246 C A SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.294 p.D98E 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 45 5 10.00 48 0 0.00 TTC17 55761 genome.wustl.edu 37 11 43429072 43429072 + Missense_Mutation SNP T T G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 43429072 43429072 T G SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.2009 p.L670R 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 35 13 27.08 79 0 0.00 TTC18 118491 genome.wustl.edu 37 10 75051773 75051773 + Splice_Site SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 75051773 75051773 C G SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known splice_site c.1981-1 e17-1 1.000 - - - no_errors TTC18 HGNC ENSG00000156042 54 15 21.74 57 0 0.00 TTC18 118491 genome.wustl.edu 37 10 75071636 75071636 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 75071636 75071636 G C SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known missense c.1330 p.P444A 0.989 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 40 18 31.03 65 0 0.00 TTC18 118491 genome.wustl.edu 37 10 75072284 75072284 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 75072284 75072284 C G SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known missense c.1240 p.D414H 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 58 41 41.41 81 0 0.00 TTC18 118491 genome.wustl.edu 37 10 75095277 75095277 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 10 75095277 75095277 G A SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known silent c.798 p.S266 0.662 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 19 12 38.71 31 0 0.00 TTC19 54902 genome.wustl.edu 37 17 15903112 15903112 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 15903112 15903112 G - DEL TTC19 ENST00000261647 human ensembl 70_37 +1 novel frame_shift_del c.313 p.G106fs 0.876 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 4 2 33.33 8 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39154048 39154048 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 39154048 39154048 G C SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.535 p.D179H 0.988 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 34 18 34.62 51 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39159650 39159650 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39159650 39159650 T C SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known silent c.807 p.S269 0.935 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 19 7 26.92 33 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39159652 39159652 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39159652 39159652 C A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.809 p.S270Y 0.077 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 19 7 26.92 34 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39161495 39161495 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39161495 39161495 T G SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.908 p.I303S 0.001 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 20 11 35.48 52 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39166554 39166554 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 39166554 39166554 G T SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.1118 p.G373V 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 15 3 16.67 61 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39170291 39170291 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 39170291 39170291 G A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known silent c.1788 p.L596 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 28 10 26.32 17 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39171766 39171766 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 39171766 39171766 G A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.2260 p.E754K 0.561 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 28 10 26.32 25 0 0.00 TTC21A 199223 genome.wustl.edu 37 3 39178360 39178360 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 39178360 39178360 C T SNP TTC21A ENST00000490245 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TTC21A HGNC ENSG00000168026 14 8 36.36 13 0 0.00 TTC21B 79809 genome.wustl.edu 37 2 166740408 166740408 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 166740408 166740408 C T SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known missense c.3580 p.E1194K 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 76 30 28.30 60 0 0.00 TTC21B 79809 genome.wustl.edu 37 2 166773832 166773832 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 166773832 166773832 C A SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known missense c.1834 p.D612Y 0.999 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 132 17 11.41 99 0 0.00 TTC21B 79809 genome.wustl.edu 37 2 166799846 166799846 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 166799846 166799846 G A SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known silent c.435 p.H145 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 17 4 19.05 22 0 0.00 TTC22 55001 genome.wustl.edu 37 1 55266581 55266581 + Frame_Shift_Del DEL G G - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 55266581 55266581 G - DEL TTC22 ENST00000371276 human ensembl 70_37 -1 known frame_shift_del c.256 p.R86fs 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 4 2 33.33 16 0 0.00 TTC23L 153657 genome.wustl.edu 37 5 34845686 34845686 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 34845686 34845686 G C SNP TTC23L ENST00000505624 human ensembl 70_37 +1 known missense c.163 p.E55Q 0.000 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 32 7 17.95 44 0 0.00 TTC25 83538 genome.wustl.edu 37 17 40091994 40091994 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 40091994 40091994 C T SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 30 28 48.28 51 0 0.00 TTC25 83538 genome.wustl.edu 37 17 40092735 40092735 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40092735 40092735 C T SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors TTC25 HGNC ENSG00000204815 24 5 17.24 27 0 0.00 TTC25 83538 genome.wustl.edu 37 17 40094955 40094955 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40094955 40094955 G A SNP TTC25 ENST00000591658 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors TTC25 HGNC ENSG00000204815 16 10 38.46 26 0 0.00 TTC25 83538 genome.wustl.edu 37 17 40117340 40117340 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 40117340 40117340 G C SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC25 HGNC ENSG00000204815 8 6 42.86 10 0 0.00 TTC27 55622 genome.wustl.edu 37 2 32855589 32855589 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 32855589 32855589 G A SNP TTC27 ENST00000317907 human ensembl 70_37 +1 known splice_site c.89-1 e2-1 1.000 - - - no_errors TTC27 HGNC ENSG00000018699 55 13 19.12 44 0 0.00 TTC27 55622 genome.wustl.edu 37 2 32889467 32889467 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 32889467 32889467 G A SNP TTC27 ENST00000317907 human ensembl 70_37 +1 known silent c.738 p.E246 0.998 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 129 42 24.56 133 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28378302 28378302 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 28378302 28378302 G T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.7353 p.P2451 0.008 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 46 15 24.59 71 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28378382 28378382 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 28378382 28378382 G C SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.7273 p.P2425A 0.127 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 33 28 45.90 69 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28389396 28389396 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 28389396 28389396 G A SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.5355 p.L1785 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 46 27 36.99 54 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28397377 28397377 + Silent SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 28397377 28397377 G T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.4383 p.L1461 0.001 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 33 28 45.90 44 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28410369 28410369 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 28410369 28410369 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.4085 p.S1362N 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 32 12 27.27 87 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28426232 28426232 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 28426232 28426232 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.4055 p.R1352H 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 17 18 50.00 47 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28494913 28494913 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 22 28494913 28494913 G A SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.3537 p.L1179 0.061 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 54 18 25.00 79 0 0.00 TTC28 23331 genome.wustl.edu 37 22 28504220 28504220 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 22 28504220 28504220 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.1613 p.R538Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 17 8 32.00 48 0 0.00 TTC28-AS1 284900 genome.wustl.edu 37 22 28396518 28396518 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 28396518 28396518 C T SNP TTC28-AS1 ENST00000428584 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC28-AS1 HGNC ENSG00000235954 32 14 30.43 25 0 0.00 TTC29 83894 genome.wustl.edu 37 4 147830196 147830196 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 147830196 147830196 C G SNP TTC29 ENST00000398886 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.967 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 180 44 19.64 236 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38445615 38445616 + RNA INS - - GCT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 38445615 38445616 - GCT INS TTC3 ENST00000463216 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors TTC3 HGNC ENSG00000182670 63 12 16.00 10 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38460535 38460535 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 21 38460535 38460535 C T SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.227 p.S76F 0.995 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 43 7 14.00 38 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38467758 38467758 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 38467758 38467758 G C SNP TTC3 ENST00000491952 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TTC3 HGNC ENSG00000182670 10 10 50.00 30 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38505018 38505018 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 38505018 38505018 G A SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known silent c.1395 p.K465 0.614 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 79 61 43.57 125 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38512877 38512877 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 38512877 38512877 A G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.1676 p.E559G 1.000 pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 36 11 23.40 90 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38519790 38519790 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 38519790 38519790 G C SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.1903 p.E635Q 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 24 8 25.00 45 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38523150 38523150 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 38523150 38523150 C T SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2242 p.P748S 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 54 7 11.48 52 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38525250 38525250 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38525250 38525250 G C SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known splice_site c.2414-1 e26-1 0.001 - - - no_errors TTC3 HGNC ENSG00000182670 19 5 20.83 24 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38528979 38528979 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 38528979 38528979 C G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2763 p.F921L 0.681 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 71 16 18.39 82 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38529195 38529195 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 38529195 38529195 C G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2979 p.F993L 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 41 15 26.79 41 0 0.00 TTC3 7267 genome.wustl.edu 37 21 38569941 38569941 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 38569941 38569941 G A SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.5650 p.D1884N 0.917 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 23 15 39.47 21 0 0.00 TTC30A 92104 genome.wustl.edu 37 2 178481445 178481445 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 178481445 178481445 C A SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.1985 p.G662V 0.821 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 163 51 23.83 212 0 0.00 TTC30A 92104 genome.wustl.edu 37 2 178482347 178482347 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 178482347 178482347 G A SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known silent c.1083 p.F361 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 51 15 22.73 67 0 0.00 TTC30A 92104 genome.wustl.edu 37 2 178482897 178482897 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 178482897 178482897 G C SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.533 p.S178C 0.030 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 91 33 26.61 132 0 0.00 TTC30A 92104 genome.wustl.edu 37 2 178482973 178482973 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 178482973 178482973 C G SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.457 p.E153Q 0.988 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 69 8 10.39 119 0 0.00 TTC30A 92104 genome.wustl.edu 37 2 178483126 178483126 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 178483126 178483126 C T SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.304 p.A102T 0.897 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 39 25 39.06 46 0 0.00 TTC30B 150737 genome.wustl.edu 37 2 178415583 178415583 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 178415583 178415583 C G SNP TTC30B ENST00000408939 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.998 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 54 30 35.71 55 0 0.00 TTC30B 150737 genome.wustl.edu 37 2 178416151 178416151 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 178416151 178416151 G A SNP TTC30B ENST00000408939 human ensembl 70_37 -1 known silent c.1341 p.F447 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 195 37 15.88 130 0 0.00 TTC33 23548 genome.wustl.edu 37 5 40728489 40728489 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 40728489 40728489 C T SNP TTC33 ENST00000337702 human ensembl 70_37 -1 known silent c.393 p.Q131 0.816 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC ENSG00000113638 54 38 41.30 77 0 0.00 TTC33 23548 genome.wustl.edu 37 5 40730373 40730373 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 40730373 40730373 C T SNP TTC33 ENST00000337702 human ensembl 70_37 -1 known missense c.294 p.M98I 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC ENSG00000113638 48 13 20.97 39 0 0.00 TTC34 100287898 genome.wustl.edu 37 1 2704221 2704221 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 2704221 2704221 G A SNP TTC34 ENST00000401095 human ensembl 70_37 -1 known missense c.140 p.S47L 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC34 HGNC ENSG00000215912 21 14 40.00 42 0 0.00 TTC36 143941 genome.wustl.edu 37 11 118399332 118399332 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 118399332 118399332 C G SNP TTC36 ENST00000302783 human ensembl 70_37 +1 known missense c.133 p.Q45E 0.998 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC36 HGNC ENSG00000172425 43 30 41.10 84 0 0.00 TTC39A 22996 genome.wustl.edu 37 1 51767348 51767348 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 51767348 51767348 G T SNP TTC39A ENST00000447632 human ensembl 70_37 -1 known missense c.1057 p.H353N 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 19 3 13.64 30 0 0.00 TTC39A 22996 genome.wustl.edu 37 1 51767913 51767913 + Frame_Shift_Del DEL C C - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 51767913 51767913 C - DEL TTC39A ENST00000262676 human ensembl 70_37 -1 known frame_shift_del c.1103 p.G368fs 0.000 NULL pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC ENSG00000085831 32 6 15.79 36 0 0.00 TTC39A 22996 genome.wustl.edu 37 1 51774962 51774962 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 51774962 51774962 G C SNP TTC39A ENST00000447632 human ensembl 70_37 -1 known missense c.567 p.I189M 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 51 16 23.88 64 0 0.00 TTC39B 158219 genome.wustl.edu 37 9 15307104 15307104 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 15307104 15307104 C G SNP TTC39B ENST00000512701 human ensembl 70_37 -1 known missense c.218 p.R73P 0.998 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 22 9 29.03 42 0 0.00 TTC39C 125488 genome.wustl.edu 37 18 21703865 21703865 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 21703865 21703865 C G SNP TTC39C ENST00000317571 human ensembl 70_37 +1 known missense c.1254 p.F418L 1.000 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 48 28 36.84 71 0 0.00 TTC4 7268 genome.wustl.edu 37 1 55197170 55197170 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 55197170 55197170 C T SNP TTC4 ENST00000371281 human ensembl 70_37 +1 known silent c.693 p.I231 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 11 13 54.17 21 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134621949 134621949 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 134621949 134621949 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known silent c.2607 p.Q869 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 40 10 20.00 53 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134627759 134627759 + Splice_Site SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 10 134627759 134627759 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known splice_site c.1769-1 e16-1 0.853 - - - no_errors TTC40 HGNC ENSG00000171811 30 10 25.00 27 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134627759 134627759 + Splice_Site SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 134627759 134627759 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known splice_site c.1769-1 e16-1 0.853 - - - no_errors TTC40 HGNC ENSG00000171811 11 6 35.29 37 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134647006 134647006 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 134647006 134647006 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known missense c.1456 p.D486N 0.004 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 40 19 32.20 40 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134686181 134686181 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 134686181 134686181 G A SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known missense c.4510 p.R1504W 0.036 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 49 13 20.97 46 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134731957 134731957 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 134731957 134731957 C T SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known silent c.1926 p.Q642 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 79 32 28.83 94 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134743130 134743130 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 134743130 134743130 C A SNP TTC40 ENST00000368585 human ensembl 70_37 -1 known nonsense c.1045 p.E349* 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 42 18 30.00 69 0 0.00 TTC40 54777 genome.wustl.edu 37 10 134754547 134754547 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 134754547 134754547 G A SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known silent c.324 p.C108 0.016 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 26 10 27.78 75 0 0.00 TTC5 91875 genome.wustl.edu 37 14 20757805 20757805 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20757805 20757805 G A SNP TTC5 ENST00000258821 human ensembl 70_37 -1 known missense c.1304 p.S435L 0.738 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 24 21 46.67 28 0 0.00 TTC5 91875 genome.wustl.edu 37 14 20767589 20767591 + In_Frame_Del DEL AGG AGG - TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 20767589 20767591 AGG - DEL TTC5 ENST00000258821 human ensembl 70_37 -1 known in_frame_del c.415_413 p.S138in_frame_del 0.997:0.983:1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 58 25 30.12 76 0 0.00 TTC6 319089 genome.wustl.edu 37 14 38220270 38220270 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 38220270 38220270 C T SNP TTC6 ENST00000553443 human ensembl 70_37 +1 novel missense c.2969 p.S990L 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 10 5 33.33 8 0 0.00 TTC6 319089 genome.wustl.edu 37 14 38265554 38265554 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 38265554 38265554 C T SNP TTC6 ENST00000478811 human ensembl 70_37 +1 known nonsense c.40 p.Q14* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 40 10 20.00 64 0 0.00 TTC6 319089 genome.wustl.edu 37 14 38277976 38277976 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 14 38277976 38277976 C T SNP TTC6 ENST00000478811 human ensembl 70_37 +1 known silent c.687 p.I229 0.838 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 16 8 33.33 30 0 0.00 TTC7B 145567 genome.wustl.edu 37 14 91119233 91119233 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 91119233 91119233 C T SNP TTC7B ENST00000357056 human ensembl 70_37 -1 known missense c.1469 p.R490Q 1.000 pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 36 19 34.55 62 0 0.00 TTC8 123016 genome.wustl.edu 37 14 89300049 89300049 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 89300049 89300049 G A SNP TTC8 ENST00000380656 human ensembl 70_37 +1 known missense c.127 p.E43K 0.916 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 36 5 12.20 44 0 0.00 TTC8 123016 genome.wustl.edu 37 14 89341385 89341385 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 89341385 89341385 C T SNP TTC8 ENST00000338104 human ensembl 70_37 +1 known nonsense c.1411 p.Q471* 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 22 6 21.43 36 0 0.00 TTC8 123016 genome.wustl.edu 37 14 89343652 89343652 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 89343652 89343652 G C SNP TTC8 ENST00000338104 human ensembl 70_37 +1 known missense c.1494 p.Q498H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 16 14 46.67 40 0 0.00 TTC9B 148014 genome.wustl.edu 37 19 40723221 40723221 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 40723221 40723221 G C SNP TTC9B ENST00000311308 human ensembl 70_37 -1 known silent c.483 p.L161 1.000 pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9B HGNC ENSG00000174521 41 27 39.71 93 0 0.00 TTF1 7270 genome.wustl.edu 37 9 135266142 135266142 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135266142 135266142 C A SNP TTF1 ENST00000334270 human ensembl 70_37 -1 known missense c.2064 p.K688N 0.995 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 49 20 28.99 48 0 0.00 TTF1 7270 genome.wustl.edu 37 9 135278098 135278098 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 135278098 135278098 G A SNP TTF1 ENST00000334270 human ensembl 70_37 -1 known silent c.111 p.F37 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 39 21 34.43 61 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117617603 117617603 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117617603 117617603 C G SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.397 p.Q133E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 17 4 19.05 34 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117617619 117617619 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 117617619 117617619 G T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.413 p.W138L 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 35 5 12.50 40 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117617918 117617918 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 117617918 117617918 G A SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.712 p.E238K 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 20 5 20.00 16 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117620614 117620614 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 117620614 117620614 T C SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known silent c.1650 p.L550 0.980 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 19 8 29.63 37 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117624635 117624635 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 117624635 117624635 T C SNP TTF2 ENST00000464062 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTF2 HGNC ENSG00000116830 15 6 28.57 31 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117626692 117626692 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 117626692 117626692 G A SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known silent c.1956 p.L652 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 99 46 31.72 195 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117634490 117634490 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 117634490 117634490 C G SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known nonsense c.2723 p.S908* 0.009 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 23 14 37.84 73 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117638784 117638784 + Nonsense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 117638784 117638784 C T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known nonsense c.3049 p.Q1017* 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 19 12 38.71 36 0 0.00 TTF2 8458 genome.wustl.edu 37 1 117639973 117639973 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 1 117639973 117639973 G T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.3187 p.V1063L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 72 20 21.74 109 1 0.91 TTI1 9675 genome.wustl.edu 37 20 36627619 36627619 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 36627619 36627619 C T SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.2764 p.A922T 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 35 10 22.22 44 0 0.00 TTI1 9675 genome.wustl.edu 37 20 36634660 36634660 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 36634660 36634660 C T SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known silent c.2442 p.L814 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 57 29 33.72 74 0 0.00 TTI1 9675 genome.wustl.edu 37 20 36640387 36640387 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 36640387 36640387 G C SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known nonsense c.1832 p.S611* 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 56 29 34.12 101 0 0.00 TTI1 9675 genome.wustl.edu 37 20 36640910 36640910 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 36640910 36640910 C G SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.1309 p.E437Q 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 21 15 41.67 31 0 0.00 TTI1 9675 genome.wustl.edu 37 20 36641799 36641799 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 36641799 36641799 C T SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known silent c.420 p.L140 0.275 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 21 5 19.23 12 0 0.00 TTI1 9675 genome.wustl.edu 37 20 36641902 36641902 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 20 36641902 36641902 G A SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.317 p.S106L 0.988 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 13 3 18.75 14 0 0.00 TTK 7272 genome.wustl.edu 37 6 80749469 80749469 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 80749469 80749469 C T SNP TTK ENST00000369798 human ensembl 70_37 +1 known silent c.2187 p.Y729 0.968 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTK HGNC ENSG00000112742 14 8 36.36 31 0 0.00 TTK 7272 genome.wustl.edu 37 6 80749569 80749569 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 80749569 80749569 G C SNP TTK ENST00000369798 human ensembl 70_37 +1 known missense c.2287 p.D763H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTK HGNC ENSG00000112742 16 6 27.27 77 0 0.00 TTK 7272 genome.wustl.edu 37 6 80749569 80749569 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 6 80749569 80749569 G C SNP TTK ENST00000369798 human ensembl 70_37 +1 known missense c.2287 p.D763H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTK HGNC ENSG00000112742 54 11 16.92 48 0 0.00 TTL 150465 genome.wustl.edu 37 2 113251762 113251762 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 113251762 113251762 G T SNP TTL ENST00000233336 human ensembl 70_37 +1 known missense c.279 p.W93C 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTL HGNC ENSG00000114999 30 16 34.78 53 0 0.00 TTL 150465 genome.wustl.edu 37 2 113286340 113286340 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113286340 113286340 C G SNP TTL ENST00000233336 human ensembl 70_37 +1 known missense c.1102 p.Q368E 0.019 NULL pfam_Tub_tyr_ligase - no_errors TTL HGNC ENSG00000114999 7 21 75.00 17 0 0.00 TTL 150465 genome.wustl.edu 37 2 113286901 113286901 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113286901 113286901 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTL HGNC ENSG00000114999 91 119 56.67 93 0 0.00 TTL 150465 genome.wustl.edu 37 2 113288821 113288821 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113288821 113288821 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TTL HGNC ENSG00000114999 12 25 67.57 23 0 0.00 TTL 150465 genome.wustl.edu 37 2 113288911 113288911 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113288911 113288911 C T SNP TTL ENST00000460450 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors TTL HGNC ENSG00000114999 30 30 50.00 35 0 0.00 TTLL1 25809 genome.wustl.edu 37 22 43464472 43464472 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 43464472 43464472 G C SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.447 p.F149L 0.936 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 267 113 29.74 308 0 0.00 TTLL1 25809 genome.wustl.edu 37 22 43464588 43464588 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 43464588 43464588 G C SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.331 p.P111A 0.999 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 150 58 27.75 168 0 0.00 TTLL1 25809 genome.wustl.edu 37 22 43465794 43465794 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 43465794 43465794 G A SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.170 p.S57L 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 8 25 75.76 47 0 0.00 TTLL10 254173 genome.wustl.edu 37 1 1132485 1132485 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 1132485 1132485 G C SNP TTLL10 ENST00000379289 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL10 HGNC ENSG00000162571 30 6 16.67 20 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1109679 1109679 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 1109679 1109679 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 32 22 39.29 41 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1109713 1109713 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1109713 1109713 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 27 26 49.06 46 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111181 1111181 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 1111181 1111181 G C SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 115 83 41.92 142 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111303 1111303 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 1111303 1111303 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 288 84 22.58 224 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111486 1111486 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1111486 1111486 C G SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.367 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 73 26 26.26 118 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111633 1111633 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 1111633 1111633 A G SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.979 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 255 29 10.21 367 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111648 1111648 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 1111648 1111648 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.857 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 126 37 22.70 186 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114803 1114805 + RNA DEL CCT CCT - TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1114803 1114805 CCT - DEL TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.005:0.001 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 310 724 70.02 75 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114808 1114808 + RNA DEL T T - TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1114808 1114808 T - DEL TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 100 726 87.89 71 0 0.00 TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114911 1114911 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 1114911 1114911 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 42 8 16.00 36 0 0.00 TTLL11 158135 genome.wustl.edu 37 9 124632838 124632838 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 124632838 124632838 G A SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known silent c.1941 p.I647 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 44 20 30.77 64 0 0.00 TTLL11 158135 genome.wustl.edu 37 9 124736340 124736340 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 124736340 124736340 T A SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.1699 p.I567F 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 51 34 40.00 66 0 0.00 TTLL11 158135 genome.wustl.edu 37 9 124751992 124751992 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 124751992 124751992 C G SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.1021 p.D341H 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 24 10 29.41 29 0 0.00 TTLL11 158135 genome.wustl.edu 37 9 124794028 124794028 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 124794028 124794028 C T SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.937 p.D313N 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 40 7 14.89 27 0 0.00 TTLL12 23170 genome.wustl.edu 37 22 43565562 43565562 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 22 43565562 43565562 C G SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.1588 p.E530Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC ENSG00000100304 7 13 65.00 27 0 0.00 TTLL12 23170 genome.wustl.edu 37 22 43567739 43567739 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 43567739 43567739 C T SNP TTLL12 ENST00000494035 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TTLL12 HGNC ENSG00000100304 28 13 31.71 46 0 0.00 TTLL12 23170 genome.wustl.edu 37 22 43569750 43569750 + Missense_Mutation SNP T T A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 22 43569750 43569750 T A SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.1312 p.I438F 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC ENSG00000100304 15 3 16.67 29 0 0.00 TTLL12 23170 genome.wustl.edu 37 22 43575746 43575746 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 43575746 43575746 C T SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.719 p.R240Q 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC ENSG00000100304 50 28 35.90 90 0 0.00 TTLL13 440307 genome.wustl.edu 37 15 90799019 90799019 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90799019 90799019 C G SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known missense c.450 p.I150M 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC ENSG00000213471 15 15 50.00 41 0 0.00 TTLL13 440307 genome.wustl.edu 37 15 90799080 90799080 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 90799080 90799080 T C SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known missense c.511 p.Y171H 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC ENSG00000213471 8 20 71.43 44 0 0.00 TTLL13 440307 genome.wustl.edu 37 15 90802006 90802006 + Nonsense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 90802006 90802006 C G SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known nonsense c.1199 p.S400* 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC ENSG00000213471 17 33 66.00 81 0 0.00 TTLL2 83887 genome.wustl.edu 37 6 167754124 167754124 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167754124 167754124 C A SNP TTLL2 ENST00000239587 human ensembl 70_37 +1 known missense c.736 p.P246T 0.992 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC ENSG00000120440 25 13 33.33 70 0 0.00 TTLL2 83887 genome.wustl.edu 37 6 167754940 167754940 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 167754940 167754940 C T SNP TTLL2 ENST00000239587 human ensembl 70_37 +1 known missense c.1552 p.H518Y 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC ENSG00000120440 34 4 10.53 39 0 0.00 TTLL3 26140 genome.wustl.edu 37 3 9852359 9852359 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 9852359 9852359 G A SNP TTLL3 ENST00000426895 human ensembl 70_37 +1 known missense c.443 p.R148K 0.952 NULL pfam_Tub_tyr_ligase - no_errors TTLL3 HGNC ENSG00000214021 30 13 30.23 38 0 0.00 TTLL4 9654 genome.wustl.edu 37 2 219603344 219603344 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 219603344 219603344 G T SNP TTLL4 ENST00000258398 human ensembl 70_37 +1 known missense c.945 p.E315D 0.351 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC ENSG00000135912 9 4 30.77 25 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76135834 76135835 + Frame_Shift_Ins INS - - A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 76135834 76135835 - A INS TTLL5 ENST00000298832 human ensembl 70_37 +1 known frame_shift_ins c.150_151 p.T50fs 1.000:1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 23 8 25.81 55 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76165591 76165591 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 76165591 76165591 G A SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known missense c.563 p.R188Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 15 9 37.50 69 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76219283 76219283 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 76219283 76219283 G A SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known missense c.1535 p.R512H 0.999 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 23 5 17.86 67 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76243152 76243152 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 14 76243152 76243152 G T SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known silent c.2346 p.G782 0.934 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 32 4 11.11 32 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76420866 76420866 + RNA SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 76420866 76420866 C T SNP TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTLL5 HGNC ENSG00000119685 11 3 21.43 22 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76420881 76420882 + RNA INS - - T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 14 76420881 76420882 - T INS TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 30 15 33.33 30 0 0.00 TTLL5 23093 genome.wustl.edu 37 14 76420881 76420882 + RNA INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 76420881 76420882 - T INS TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 23 3 11.54 30 0 0.00 TTLL6 284076 genome.wustl.edu 37 17 46846573 46846573 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 46846573 46846573 G T SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.2454 p.S818R 0.822 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 35 4 10.26 37 0 0.00 TTLL6 284076 genome.wustl.edu 37 17 46863530 46863530 + Missense_Mutation SNP T T A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 46863530 46863530 T A SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.1757 p.K586I 0.997 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 115 52 31.14 185 0 0.00 TTLL6 284076 genome.wustl.edu 37 17 46863559 46863559 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 46863559 46863559 C T SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known silent c.1728 p.Q576 0.010 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 193 154 44.38 254 1 0.39 TTLL6 284076 genome.wustl.edu 37 17 46867437 46867437 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 46867437 46867437 G C SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.1256 p.S419C 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 43 37 46.25 60 0 0.00 TTLL6 284076 genome.wustl.edu 37 17 46868950 46868950 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46868950 46868950 G A SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known silent c.1014 p.F338 0.965 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 79 15 15.96 111 0 0.00 TTLL7 79739 genome.wustl.edu 37 1 84403639 84403639 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 84403639 84403639 G A SNP TTLL7 ENST00000260505 human ensembl 70_37 -1 known missense c.784 p.R262W 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL7 HGNC ENSG00000137941 106 35 24.82 147 1 0.68 TTLL7 79739 genome.wustl.edu 37 1 84412895 84412895 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 84412895 84412895 G C SNP TTLL7 ENST00000260505 human ensembl 70_37 -1 known missense c.418 p.Q140E 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL7 HGNC ENSG00000137941 43 14 24.14 68 0 0.00 TTLL8 164714 genome.wustl.edu 37 22 50468941 50468941 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 50468941 50468941 C G SNP TTLL8 ENST00000266182 human ensembl 70_37 -1 known missense c.2121 p.Q707H 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC ENSG00000138892 5 5 50.00 21 0 0.00 TTLL8 164714 genome.wustl.edu 37 22 50469242 50469242 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 22 50469242 50469242 G C SNP TTLL8 ENST00000266182 human ensembl 70_37 -1 known missense c.1820 p.S607W 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC ENSG00000138892 4 7 63.64 9 0 0.00 TTLL8 164714 genome.wustl.edu 37 22 50472866 50472866 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50472866 50472866 G A SNP TTLL8 ENST00000266182 human ensembl 70_37 -1 known missense c.947 p.T316M 0.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC ENSG00000138892 85 15 15.00 109 0 0.00 TTLL9 164395 genome.wustl.edu 37 20 30467697 30467697 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 20 30467697 30467697 G A SNP TTLL9 ENST00000375934 human ensembl 70_37 +1 known silent c.12 p.P4 0.982 NULL pfam_Tub_tyr_ligase - no_errors TTLL9 HGNC ENSG00000131044 72 38 34.23 74 0 0.00 TTLL9 164395 genome.wustl.edu 37 20 30526994 30526994 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 30526994 30526994 G A SNP TTLL9 ENST00000375938 human ensembl 70_37 +1 known missense c.1168 p.D390N 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL9 HGNC ENSG00000131044 56 19 25.33 61 0 0.00 TTN 7273 genome.wustl.edu 37 2 179391859 179391859 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179391859 179391859 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.100152 p.D33384 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 37 18 32.73 92 0 0.00 TTN 7273 genome.wustl.edu 37 2 179392002 179392002 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 179392002 179392002 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.100009 p.D33337N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 12 27.27 34 0 0.00 TTN 7273 genome.wustl.edu 37 2 179393069 179393069 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 179393069 179393069 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.99605 p.G33202E 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 10 40.00 33 0 0.00 TTN 7273 genome.wustl.edu 37 2 179393094 179393094 + Nonsense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 179393094 179393094 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.99580 p.R33194* 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 43 29 40.28 66 0 0.00 TTN 7273 genome.wustl.edu 37 2 179395192 179395192 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179395192 179395192 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.98446 p.E32816K 0.979 superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 16 33.33 42 0 0.00 TTN 7273 genome.wustl.edu 37 2 179395364 179395364 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179395364 179395364 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.98274 p.L32758 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 46 22 32.35 69 0 0.00 TTN 7273 genome.wustl.edu 37 2 179395466 179395466 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179395466 179395466 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.98172 p.L32724 0.272 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 18 34.62 62 0 0.00 TTN 7273 genome.wustl.edu 37 2 179396051 179396051 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179396051 179396051 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.97587 p.E32529 0.413 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 4 13.79 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179396631 179396631 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179396631 179396631 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.97007 p.R32336T 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 9 25.00 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179396953 179396953 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179396953 179396953 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.96685 p.E32229Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 13 32.50 25 0 0.00 TTN 7273 genome.wustl.edu 37 2 179399219 179399219 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 179399219 179399219 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.94419 p.E31473 0.887 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 21 15 41.67 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179399950 179399950 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179399950 179399950 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.93688 p.E31230K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 59 36 37.89 85 0 0.00 TTN 7273 genome.wustl.edu 37 2 179404687 179404687 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 2 179404687 179404687 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.90401 p.P30134L 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 108 25 18.80 140 0 0.00 TTN 7273 genome.wustl.edu 37 2 179406264 179406264 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 179406264 179406264 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89836 p.D29946H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 9 39.13 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179406306 179406306 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179406306 179406306 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89794 p.P29932S 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 5 27.78 27 0 0.00 TTN 7273 genome.wustl.edu 37 2 179407455 179407455 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179407455 179407455 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89422 p.E29808Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 28 25 47.17 47 0 0.00 TTN 7273 genome.wustl.edu 37 2 179407639 179407639 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 179407639 179407639 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.89238 p.K29746 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 6 3 33.33 14 0 0.00 TTN 7273 genome.wustl.edu 37 2 179408347 179408347 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 179408347 179408347 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.88649 p.S29550* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 36 13 26.53 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179409108 179409108 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179409108 179409108 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.88144 p.E29382Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 44 16 26.67 40 0 0.00 TTN 7273 genome.wustl.edu 37 2 179410126 179410126 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179410126 179410126 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.88007 p.R29336K 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 5 12.82 17 0 0.00 TTN 7273 genome.wustl.edu 37 2 179410173 179410173 + Silent SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 179410173 179410173 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.87960 p.A29320 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 35 11 23.91 54 0 0.00 TTN 7273 genome.wustl.edu 37 2 179411050 179411050 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179411050 179411050 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.87304 p.R29102* 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 12 30.77 56 0 0.00 TTN 7273 genome.wustl.edu 37 2 179412236 179412236 + Missense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 179412236 179412236 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.86413 p.L28805I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 21 7 25.00 37 0 0.00 TTN 7273 genome.wustl.edu 37 2 179416576 179416576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179416576 179416576 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.83347 p.D27783H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 7 7 50.00 48 0 0.00 TTN 7273 genome.wustl.edu 37 2 179416909 179416909 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179416909 179416909 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.83014 p.D27672N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 32 56.14 31 0 0.00 TTN 7273 genome.wustl.edu 37 2 179417593 179417593 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 2 179417593 179417593 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.82330 p.E27444K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 6 7 53.85 56 0 0.00 TTN 7273 genome.wustl.edu 37 2 179417953 179417953 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179417953 179417953 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.81970 p.D27324N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 68 20 22.73 66 0 0.00 TTN 7273 genome.wustl.edu 37 2 179418668 179418668 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179418668 179418668 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.81466 p.E27156* 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 10 22.73 37 0 0.00 TTN 7273 genome.wustl.edu 37 2 179424573 179424573 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179424573 179424573 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.78582 p.K26194 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 8 7 46.67 65 0 0.00 TTN 7273 genome.wustl.edu 37 2 179424576 179424576 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179424576 179424576 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.78579 p.R26193 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 7 8 53.33 62 0 0.00 TTN 7273 genome.wustl.edu 37 2 179425118 179425118 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179425118 179425118 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.78037 p.E26013Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 13 46.43 56 0 0.00 TTN 7273 genome.wustl.edu 37 2 179425302 179425302 + Silent SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 179425302 179425302 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.77853 p.N25951 0.999 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 8 22.86 28 0 0.00 TTN 7273 genome.wustl.edu 37 2 179426276 179426276 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179426276 179426276 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.76879 p.E25627K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 20 37.74 65 0 0.00 TTN 7273 genome.wustl.edu 37 2 179426582 179426582 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179426582 179426582 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.76573 p.E25525K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 37 18 32.73 43 0 0.00 TTN 7273 genome.wustl.edu 37 2 179427450 179427450 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179427450 179427450 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.75705 p.V25235 0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 65 18 21.69 100 0 0.00 TTN 7273 genome.wustl.edu 37 2 179427879 179427879 + Silent SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 179427879 179427879 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.75276 p.L25092 0.867 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 9 40.91 36 0 0.00 TTN 7273 genome.wustl.edu 37 2 179428176 179428176 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179428176 179428176 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.74979 p.F24993L 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 23 4 14.81 31 0 0.00 TTN 7273 genome.wustl.edu 37 2 179429007 179429007 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179429007 179429007 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.74148 p.V24716 0.949 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 13 34.21 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179430904 179430904 + Frame_Shift_Del DEL T T - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 179430904 179430904 T - DEL TTN ENST00000342992 human ensembl 70_37 -1 known frame_shift_del c.72251 p.N24084fs 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 18 2 10.00 81 0 0.00 TTN 7273 genome.wustl.edu 37 2 179432591 179432591 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 179432591 179432591 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.70564 p.D23522N 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 45 13 22.41 86 0 0.00 TTN 7273 genome.wustl.edu 37 2 179432618 179432618 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 179432618 179432618 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.70537 p.E23513K 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 72 18 20.00 81 0 0.00 TTN 7273 genome.wustl.edu 37 2 179433331 179433331 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179433331 179433331 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69824 p.R23275T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 19 13 39.39 21 0 0.00 TTN 7273 genome.wustl.edu 37 2 179433734 179433734 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179433734 179433734 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69421 p.D23141N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 68 11 13.92 181 0 0.00 TTN 7273 genome.wustl.edu 37 2 179433825 179433825 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 179433825 179433825 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69330 p.E23110D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 17 10 35.71 29 0 0.00 TTN 7273 genome.wustl.edu 37 2 179435285 179435285 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 2 179435285 179435285 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.67870 p.E22624K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 5 16.67 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179436389 179436389 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179436389 179436389 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.66766 p.D22256N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 9 5 35.71 18 0 0.00 TTN 7273 genome.wustl.edu 37 2 179437859 179437859 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179437859 179437859 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.65296 p.D21766H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 39 19 24.36 86 0 0.00 TTN 7273 genome.wustl.edu 37 2 179439245 179439245 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179439245 179439245 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.63910 p.L21304I 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 7 33.33 27 0 0.00 TTN 7273 genome.wustl.edu 37 2 179440066 179440066 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179440066 179440066 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.63089 p.G21030V 0.999 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 50 19 27.14 55 0 0.00 TTN 7273 genome.wustl.edu 37 2 179440107 179440107 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179440107 179440107 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.63048 p.T21016 0.012 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 6 15.79 50 0 0.00 TTN 7273 genome.wustl.edu 37 2 179440160 179440160 + Missense_Mutation SNP A A T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 2 179440160 179440160 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.62995 p.Y20999N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 75 70 48.28 119 0 0.00 TTN 7273 genome.wustl.edu 37 2 179441279 179441279 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 179441279 179441279 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.61988 p.S20663Y 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 3 13.04 30 0 0.00 TTN 7273 genome.wustl.edu 37 2 179443955 179443955 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 2 179443955 179443955 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.60098 p.S20033L 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 184 48 20.69 112 0 0.00 TTN 7273 genome.wustl.edu 37 2 179444734 179444734 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179444734 179444734 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59576 p.R19859P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 18 20 52.63 37 0 0.00 TTN 7273 genome.wustl.edu 37 2 179444759 179444759 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179444759 179444759 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59551 p.E19851Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 30 5 14.29 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179445312 179445312 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 179445312 179445312 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59090 p.A19697V 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 18 5 21.74 27 0 0.00 TTN 7273 genome.wustl.edu 37 2 179446852 179446852 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 179446852 179446852 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.58540 p.D19514H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 10 8 44.44 10 0 0.00 TTN 7273 genome.wustl.edu 37 2 179449409 179449409 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179449409 179449409 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.57255 p.A19085 0.965 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 229 68 22.90 353 1 0.28 TTN 7273 genome.wustl.edu 37 2 179451935 179451935 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 179451935 179451935 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.56299 p.E18767Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 30 19 38.78 66 0 0.00 TTN 7273 genome.wustl.edu 37 2 179452396 179452396 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 179452396 179452396 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.55936 p.D18646N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 12 32.43 42 0 0.00 TTN 7273 genome.wustl.edu 37 2 179452710 179452710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179452710 179452710 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.55720 p.E18574Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 10 11 50.00 26 0 0.00 TTN 7273 genome.wustl.edu 37 2 179454227 179454227 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 179454227 179454227 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.54521 p.R18174K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 16 32.00 51 0 0.00 TTN 7273 genome.wustl.edu 37 2 179454957 179454957 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179454957 179454957 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.53791 p.R17931* 0.782 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 41 26 38.81 110 0 0.00 TTN 7273 genome.wustl.edu 37 2 179455128 179455128 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 179455128 179455128 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.53620 p.E17874K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 23 8 25.81 59 0 0.00 TTN 7273 genome.wustl.edu 37 2 179456782 179456782 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 179456782 179456782 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.52145 p.R17382Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 7 20.59 41 0 0.00 TTN 7273 genome.wustl.edu 37 2 179456845 179456845 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 179456845 179456845 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.52082 p.A17361D 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 8 19.05 22 0 0.00 TTN 7273 genome.wustl.edu 37 2 179458767 179458767 + Silent SNP A A G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 179458767 179458767 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.50649 p.R16883 0.452 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 120 67 35.64 132 0 0.00 TTN 7273 genome.wustl.edu 37 2 179460337 179460337 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179460337 179460337 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.50040 p.L16680 0.996 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 18 35.29 84 0 0.00 TTN 7273 genome.wustl.edu 37 2 179460339 179460339 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 179460339 179460339 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.50038 p.L16680F 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 23 46.00 63 0 0.00 TTN 7273 genome.wustl.edu 37 2 179462437 179462437 + Silent SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 179462437 179462437 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.49668 p.V16556 0.986 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 7 21.88 14 0 0.00 TTN 7273 genome.wustl.edu 37 2 179462522 179462522 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179462522 179462522 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.49583 p.A16528D 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 4 13.79 39 0 0.00 TTN 7273 genome.wustl.edu 37 2 179462709 179462709 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 179462709 179462709 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.49484 p.V16495A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 131 29 18.12 198 0 0.00 TTN 7273 genome.wustl.edu 37 2 179463734 179463734 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179463734 179463734 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48999 p.M16333I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 5 3 37.50 12 0 0.00 TTN 7273 genome.wustl.edu 37 2 179463947 179463947 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179463947 179463947 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48869 p.R16290L 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 38 21 35.59 58 0 0.00 TTN 7273 genome.wustl.edu 37 2 179465782 179465782 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179465782 179465782 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48145 p.E16049Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 6 31.58 13 0 0.00 TTN 7273 genome.wustl.edu 37 2 179467112 179467112 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179467112 179467112 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.47313 p.L15771 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 31 49.21 64 0 0.00 TTN 7273 genome.wustl.edu 37 2 179469564 179469564 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 179469564 179469564 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.46548 p.L15516F 0.993 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 76 28 26.92 71 0 0.00 TTN 7273 genome.wustl.edu 37 2 179469753 179469753 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 179469753 179469753 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.46447 p.L15483I 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 4 10.81 31 0 0.00 TTN 7273 genome.wustl.edu 37 2 179470335 179470335 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179470335 179470335 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.45983 p.G15328V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 51 21 29.17 57 0 0.00 TTN 7273 genome.wustl.edu 37 2 179471944 179471944 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179471944 179471944 T G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.45681 p.E15227D 0.149 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 50 12 19.35 65 0 0.00 TTN 7273 genome.wustl.edu 37 2 179472653 179472653 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 2 179472653 179472653 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.45157 p.E15053K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 21 31 59.62 75 0 0.00 TTN 7273 genome.wustl.edu 37 2 179472971 179472971 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179472971 179472971 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.44935 p.E14979K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 22 14 38.89 25 0 0.00 TTN 7273 genome.wustl.edu 37 2 179473514 179473514 + Missense_Mutation SNP C C G TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 179473514 179473514 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.44520 p.K14840N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 61 22 25.88 22 0 0.00 TTN 7273 genome.wustl.edu 37 2 179476178 179476178 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179476178 179476178 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.43074 p.L14358 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 7 25.93 26 0 0.00 TTN 7273 genome.wustl.edu 37 2 179477702 179477702 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179477702 179477702 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.42042 p.K14014N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 26 19 42.22 67 0 0.00 TTN 7273 genome.wustl.edu 37 2 179479247 179479247 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179479247 179479247 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.41290 p.E13764K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 44 15 25.42 43 0 0.00 TTN 7273 genome.wustl.edu 37 2 179479455 179479455 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 179479455 179479455 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.41082 p.V13694 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 9 37.50 25 0 0.00 TTN 7273 genome.wustl.edu 37 2 179481337 179481337 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179481337 179481337 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.40477 p.E13493* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 10 10 50.00 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179481956 179481956 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 179481956 179481956 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.40062 p.T13354 0.978 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 7 33.33 28 0 0.00 TTN 7273 genome.wustl.edu 37 2 179482768 179482768 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 2 179482768 179482768 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.39606 p.V13202 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 39 10 20.41 40 0 0.00 TTN 7273 genome.wustl.edu 37 2 179483051 179483051 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 179483051 179483051 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.39430 p.E13144K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 130 17 11.56 161 0 0.00 TTN 7273 genome.wustl.edu 37 2 179483070 179483070 + Silent SNP A A T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 179483070 179483070 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.39411 p.V13137 0.108 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 58 18 23.38 129 0 0.00 TTN 7273 genome.wustl.edu 37 2 179484535 179484535 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 179484535 179484535 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.38805 p.L12935 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 31 9 22.50 52 0 0.00 TTN 7273 genome.wustl.edu 37 2 179485706 179485706 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 179485706 179485706 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37927 p.V12643I 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 24 7 22.58 31 0 0.00 TTN 7273 genome.wustl.edu 37 2 179486033 179486033 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 179486033 179486033 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37708 p.E12570K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 13 39.39 42 0 0.00 TTN 7273 genome.wustl.edu 37 2 179486048 179486048 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179486048 179486048 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37693 p.E12565Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 37 18 32.73 42 0 0.00 TTN 7273 genome.wustl.edu 37 2 179486421 179486421 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 179486421 179486421 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37426 p.E12476K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 4 22.22 12 0 0.00 TTN 7273 genome.wustl.edu 37 2 179486627 179486627 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179486627 179486627 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.37318 p.E12440* 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 28 45.90 50 0 0.00 TTN 7273 genome.wustl.edu 37 2 179489195 179489195 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 179489195 179489195 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37108 p.V12370M 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 5 16.67 22 0 0.00 TTN 7273 genome.wustl.edu 37 2 179495034 179495034 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 179495034 179495034 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.36511 p.D12171H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 61 8 11.59 17 0 0.00 TTN 7273 genome.wustl.edu 37 2 179498554 179498554 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 179498554 179498554 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.34968 p.L11656 0.029 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 17 33.33 68 0 0.00 TTN 7273 genome.wustl.edu 37 2 179499121 179499121 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179499121 179499121 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.34683 p.K11561N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 7 9 56.25 15 0 0.00 TTN 7273 genome.wustl.edu 37 2 179499165 179499165 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 179499165 179499165 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.34639 p.Q11547K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 64 9 12.33 73 0 0.00 TTN 7273 genome.wustl.edu 37 2 179501215 179501215 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 179501215 179501215 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.33535 p.D11179N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 40 5 11.11 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179501396 179501396 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179501396 179501396 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.33354 p.V11118 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 26 19 42.22 48 0 0.00 TTN 7273 genome.wustl.edu 37 2 179501443 179501443 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179501443 179501443 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.33307 p.E11103K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 65 20 23.53 88 0 0.00 TTN 7273 genome.wustl.edu 37 2 179507003 179507003 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 179507003 179507003 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.32815 p.R10939C 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 24 11 31.43 39 0 0.00 TTN 7273 genome.wustl.edu 37 2 179507006 179507006 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 179507006 179507006 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.32812 p.E10938K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 29 10 25.64 55 0 0.00 TTN 7273 genome.wustl.edu 37 2 179517983 179517983 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 179517983 179517983 C G SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.38773 p.E12925Q 0.194 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 113 30 20.98 109 0 0.00 TTN 7273 genome.wustl.edu 37 2 179522671 179522671 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179522671 179522671 C A SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.37810 p.V12604F 0.268 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 8 38.10 14 0 0.00 TTN 7273 genome.wustl.edu 37 2 179528038 179528038 + Missense_Mutation SNP A A C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179528038 179528038 A C SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.36655 p.L12219V 0.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 17 2 10.53 82 0 0.00 TTN 7273 genome.wustl.edu 37 2 179528238 179528238 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179528238 179528238 C T SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.36538 p.E12180K 0.274 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 60 34 35.79 50 0 0.00 TTN 7273 genome.wustl.edu 37 2 179528588 179528588 + Missense_Mutation SNP G G C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 2 179528588 179528588 G C SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.36406 p.P12136A 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 65 8 10.96 97 0 0.00 TTN 7273 genome.wustl.edu 37 2 179542477 179542477 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179542477 179542477 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30430 p.E10144K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 89 26 22.61 99 0 0.00 TTN 7273 genome.wustl.edu 37 2 179542501 179542501 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179542501 179542501 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30406 p.E10136Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 93 26 21.85 105 0 0.00 TTN 7273 genome.wustl.edu 37 2 179542513 179542513 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 179542513 179542513 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30394 p.E10132K 0.923 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 50 31 38.27 106 0 0.00 TTN 7273 genome.wustl.edu 37 2 179545833 179545833 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179545833 179545833 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.29581 p.E9861Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 18 18 50.00 35 0 0.00 TTN 7273 genome.wustl.edu 37 2 179547593 179547593 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 179547593 179547593 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.29193 p.T9731 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 4 11.11 56 0 0.00 TTN 7273 genome.wustl.edu 37 2 179550275 179550275 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179550275 179550275 A C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.28630 p.S9544A 0.885 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 12 12 50.00 32 0 0.00 TTN 7273 genome.wustl.edu 37 2 179554591 179554591 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 179554591 179554591 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.28063 p.E9355K 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 29 10 25.00 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179560599 179560599 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179560599 179560599 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.27468 p.V9156 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 9 40.91 69 0 0.00 TTN 7273 genome.wustl.edu 37 2 179567367 179567367 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 179567367 179567367 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.26515 p.R8839C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 13 4 23.53 17 0 0.00 TTN 7273 genome.wustl.edu 37 2 179577844 179577844 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 179577844 179577844 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.23285 p.S7762F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 66 23 25.84 65 0 0.00 TTN 7273 genome.wustl.edu 37 2 179579022 179579022 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 2 179579022 179579022 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.22747 p.L7583F 0.956 superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 31 5 13.89 36 0 0.00 TTN 7273 genome.wustl.edu 37 2 179579122 179579122 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179579122 179579122 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.22647 p.T7549 0.817 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 12 7 36.84 17 0 0.00 TTN 7273 genome.wustl.edu 37 2 179579852 179579852 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179579852 179579852 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.22329 p.K7443 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 269 110 29.02 427 0 0.00 TTN 7273 genome.wustl.edu 37 2 179581862 179581862 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179581862 179581862 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21867 p.I7289 0.020 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 4 16.67 71 0 0.00 TTN 7273 genome.wustl.edu 37 2 179582334 179582334 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179582334 179582334 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.21535 p.D7179H 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 40 8 16.67 28 0 0.00 TTN 7273 genome.wustl.edu 37 2 179582503 179582503 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 179582503 179582503 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21366 p.L7122 0.996 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 16 18 52.94 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179582536 179582536 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 179582536 179582536 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21333 p.A7111 0.999 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 6 4 40.00 11 0 0.00 TTN 7273 genome.wustl.edu 37 2 179584091 179584091 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 2 179584091 179584091 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.20294 p.S6765C 0.990 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 13 28.26 69 0 0.00 TTN 7273 genome.wustl.edu 37 2 179584117 179584117 + Silent SNP G G T TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 2 179584117 179584117 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.20268 p.A6756 0.002 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 21 7 25.00 38 0 0.00 TTN 7273 genome.wustl.edu 37 2 179584978 179584978 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179584978 179584978 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.19659 p.F6553 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 7 3 30.00 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179585135 179585135 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179585135 179585135 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19622 p.C6541Y 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 28 26 48.15 38 0 0.00 TTN 7273 genome.wustl.edu 37 2 179585223 179585223 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179585223 179585223 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19534 p.D6512N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 11 40.74 101 0 0.00 TTN 7273 genome.wustl.edu 37 2 179585914 179585914 + Missense_Mutation SNP A A C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179585914 179585914 A C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19100 p.V6367G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 24 33 57.89 25 0 0.00 TTN 7273 genome.wustl.edu 37 2 179586756 179586756 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179586756 179586756 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.18902 p.R6301Q 0.840 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 29 15 34.09 75 0 0.00 TTN 7273 genome.wustl.edu 37 2 179587434 179587434 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179587434 179587434 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.18460 p.E6154K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 11 24.44 40 0 0.00 TTN 7273 genome.wustl.edu 37 2 179589076 179589076 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179589076 179589076 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.17294 p.S5765* 0.662 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 49 22 30.56 62 0 0.00 TTN 7273 genome.wustl.edu 37 2 179590293 179590293 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 179590293 179590293 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16906 p.A5636T 0.980 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 13 34.21 38 0 0.00 TTN 7273 genome.wustl.edu 37 2 179590682 179590682 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 179590682 179590682 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.16635 p.P5545 0.558 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 56 35 38.46 61 0 0.00 TTN 7273 genome.wustl.edu 37 2 179590695 179590695 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 179590695 179590695 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16622 p.S5541L 0.009 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 45 10 18.18 57 0 0.00 TTN 7273 genome.wustl.edu 37 2 179592389 179592389 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179592389 179592389 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16184 p.S5395F 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 54 16 22.54 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179592954 179592954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179592954 179592954 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.15865 p.E5289K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 24 6 20.00 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179594157 179594157 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 179594157 179594157 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14994 p.S4998R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 11 5 31.25 25 0 0.00 TTN 7273 genome.wustl.edu 37 2 179594406 179594406 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179594406 179594406 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.14842 p.E4948* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 12 6 33.33 16 0 0.00 TTN 7273 genome.wustl.edu 37 2 179594472 179594472 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 179594472 179594472 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14776 p.V4926I 0.992 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 6 19.35 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179595343 179595343 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179595343 179595343 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14185 p.T4729A 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 16 14 46.67 67 0 0.00 TTN 7273 genome.wustl.edu 37 2 179595731 179595731 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179595731 179595731 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.13929 p.K4643N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 20 50.00 58 0 0.00 TTN 7273 genome.wustl.edu 37 2 179597987 179597987 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179597987 179597987 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.12301 p.E4101K 0.991 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 9 3 25.00 24 0 0.00 TTN 7273 genome.wustl.edu 37 2 179598510 179598510 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179598510 179598510 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.11874 p.M3958I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 9 39.13 83 0 0.00 TTN 7273 genome.wustl.edu 37 2 179599566 179599566 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179599566 179599566 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.11353 p.R3785* 0.687 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 12 7 36.84 57 0 0.00 TTN 7273 genome.wustl.edu 37 2 179604131 179604131 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 179604131 179604131 G A SNP TTN ENST00000342175 human ensembl 70_37 -1 known missense c.13316 p.T4439I 0.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 72 10 12.05 88 0 0.00 TTN 7273 genome.wustl.edu 37 2 179605180 179605180 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 179605180 179605180 C T SNP TTN ENST00000342175 human ensembl 70_37 -1 known silent c.12267 p.A4089 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 12 28 70.00 11 0 0.00 TTN 7273 genome.wustl.edu 37 2 179606109 179606109 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179606109 179606109 G A SNP TTN ENST00000342175 human ensembl 70_37 -1 known nonsense c.11338 p.Q3780* 0.123 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 7 6 46.15 43 0 0.00 TTN 7273 genome.wustl.edu 37 2 179606229 179606229 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179606229 179606229 A C SNP TTN ENST00000342175 human ensembl 70_37 -1 known missense c.11218 p.S3740A 0.006 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 9 21.95 48 0 0.00 TTN 7273 genome.wustl.edu 37 2 179610565 179610565 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 179610565 179610565 G A SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.16562 p.S5521F 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 23 5 17.86 27 0 0.00 TTN 7273 genome.wustl.edu 37 2 179611025 179611025 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179611025 179611025 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.16102 p.E5368Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 10 6 37.50 19 0 0.00 TTN 7273 genome.wustl.edu 37 2 179611840 179611840 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 179611840 179611840 G C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.15287 p.S5096C 0.446 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 102 21 16.94 97 0 0.00 TTN 7273 genome.wustl.edu 37 2 179612456 179612456 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179612456 179612456 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14671 p.D4891N 0.033 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 15 17 53.12 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179612777 179612777 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179612777 179612777 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14350 p.E4784Q 0.933 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 35 27 42.86 32 0 0.00 TTN 7273 genome.wustl.edu 37 2 179612885 179612885 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 179612885 179612885 G C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14242 p.L4748V 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 69 14 16.87 131 0 0.00 TTN 7273 genome.wustl.edu 37 2 179612941 179612941 + Missense_Mutation SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 179612941 179612941 T C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14186 p.Y4729C 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 43 16 27.12 36 0 0.00 TTN 7273 genome.wustl.edu 37 2 179612941 179612941 + Missense_Mutation SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 179612941 179612941 T C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14186 p.Y4729C 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 67 55 45.08 153 0 0.00 TTN 7273 genome.wustl.edu 37 2 179613392 179613392 + Missense_Mutation SNP A A G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 179613392 179613392 A G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.13735 p.F4579L 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 117 45 27.61 143 0 0.00 TTN 7273 genome.wustl.edu 37 2 179614007 179614007 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 179614007 179614007 G T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.13120 p.Q4374K 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 5 15.62 36 0 0.00 TTN 7273 genome.wustl.edu 37 2 179614188 179614188 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 179614188 179614188 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known silent c.12939 p.E4313 0.956 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 82 13 13.68 167 0 0.00 TTN 7273 genome.wustl.edu 37 2 179615204 179615204 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 179615204 179615204 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.11923 p.V3975M 0.971 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 65 26 28.57 44 0 0.00 TTN 7273 genome.wustl.edu 37 2 179616464 179616464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179616464 179616464 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.10663 p.E3555Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 18 11 37.93 31 0 0.00 TTN 7273 genome.wustl.edu 37 2 179616503 179616503 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179616503 179616503 G A SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.10624 p.R3542W 0.969 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 29 4 12.12 177 0 0.00 TTN 7273 genome.wustl.edu 37 2 179633660 179633660 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 2 179633660 179633660 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.8903 p.P2968L 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 8 18 69.23 17 0 0.00 TTN 7273 genome.wustl.edu 37 2 179635314 179635314 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179635314 179635314 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.8205 p.V2735 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 61 19 23.75 48 0 0.00 TTN 7273 genome.wustl.edu 37 2 179637917 179637917 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 179637917 179637917 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.7774 p.L2592 0.208 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 28 6 17.65 42 0 0.00 TTN 7273 genome.wustl.edu 37 2 179638218 179638218 + Missense_Mutation SNP A A T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 179638218 179638218 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7565 p.V2522D 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 42 10 19.23 140 0 0.00 TTN 7273 genome.wustl.edu 37 2 179638218 179638218 + Missense_Mutation SNP A A T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 179638218 179638218 A T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7565 p.V2522D 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 42 9 17.65 26 0 0.00 TTN 7273 genome.wustl.edu 37 2 179638336 179638336 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179638336 179638336 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7447 p.E2483K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 36 20 35.09 54 0 0.00 TTN 7273 genome.wustl.edu 37 2 179638652 179638652 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179638652 179638652 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7243 p.E2415Q 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 119 44 26.99 175 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641067 179641067 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179641067 179641067 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5524 p.D1842N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 80 13 13.98 222 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641169 179641169 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 2 179641169 179641169 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5422 p.E1808K 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 98 58 36.94 151 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641319 179641319 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179641319 179641319 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5272 p.G1758R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 35 20 36.36 45 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641355 179641355 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179641355 179641355 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5236 p.E1746Q 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 36 15 28.85 34 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641473 179641473 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179641473 179641473 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.5118 p.K1706 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 28 4 12.50 13 0 0.00 TTN 7273 genome.wustl.edu 37 2 179641600 179641600 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 179641600 179641600 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.4991 p.R1664Q 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 8 19.51 57 0 0.00 TTN 7273 genome.wustl.edu 37 2 179659227 179659227 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 179659227 179659227 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.1297 p.V433I 0.999 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 16 54 77.14 59 0 0.00 TTN 7273 genome.wustl.edu 37 2 179659263 179659263 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179659263 179659263 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.1261 p.D421N 1.000 pfam_Titin_Z pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 17 38.64 37 0 0.00 TTN 7273 genome.wustl.edu 37 2 179666893 179666893 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179666893 179666893 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.267 p.A89 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 97 41 29.71 74 0 0.00 TTN 7273 genome.wustl.edu 37 2 179666938 179666938 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 179666938 179666938 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.222 p.N74K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 76 27 26.21 130 0 0.00 TTN-AS1 100506866 genome.wustl.edu 37 2 179392071 179392071 + RNA SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 179392071 179392071 C T SNP TTN-AS1 ENST00000587576 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors TTN-AS1 HGNC ENSG00000237298 27 86 76.11 38 0 0.00 TTN-AS1 100506866 genome.wustl.edu 37 2 179407701 179407701 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179407701 179407701 A G SNP TTN-AS1 ENST00000590040 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors TTN-AS1 HGNC ENSG00000237298 16 6 27.27 41 0 0.00 TTN-AS1 100506866 genome.wustl.edu 37 2 179462626 179462626 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 179462626 179462626 G C SNP TTN-AS1 ENST00000592689 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 75 31 29.25 59 0 0.00 TTN-AS1 100506866 genome.wustl.edu 37 2 179463400 179463400 + RNA SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 179463400 179463400 C T SNP TTN-AS1 ENST00000419746 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 18 6 25.00 44 0 0.00 TTN-AS1 100506866 genome.wustl.edu 37 2 179637802 179637802 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 179637802 179637802 C G SNP TTN-AS1 ENST00000584485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 52 10 16.13 45 0 0.00 TTPA 7274 genome.wustl.edu 37 8 63973937 63973937 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 63973937 63973937 G A SNP TTPA ENST00000260116 human ensembl 70_37 -1 known silent c.711 p.F237 0.990 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 29 7 19.44 23 0 0.00 TTPA 7274 genome.wustl.edu 37 8 63976819 63976819 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 8 63976819 63976819 G A SNP TTPA ENST00000260116 human ensembl 70_37 -1 known silent c.609 p.F203 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 45 21 31.34 68 0 0.00 TTR 7276 genome.wustl.edu 37 18 29171890 29171890 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29171890 29171890 C G SNP TTR ENST00000237014 human ensembl 70_37 +1 known missense c.25 p.L9V 0.978 NULL pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC ENSG00000118271 78 19 19.59 101 0 0.00 TTR 7276 genome.wustl.edu 37 18 29175194 29175194 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 29175194 29175194 C T SNP TTR ENST00000237014 human ensembl 70_37 +1 known silent c.312 p.I104 0.624 pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC ENSG00000118271 35 35 50.00 57 0 0.00 TTYH1 57348 genome.wustl.edu 37 19 54930395 54930395 + Frame_Shift_Del DEL C C - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 54930395 54930395 C - DEL TTYH1 ENST00000376531 human ensembl 70_37 +1 known frame_shift_del c.220 p.E76fs 0.793 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 47 8 14.55 44 0 0.00 TTYH1 57348 genome.wustl.edu 37 19 54930396 54930396 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 54930396 54930396 C A SNP TTYH1 ENST00000376531 human ensembl 70_37 +1 known missense c.221 p.P74H 0.808 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 47 8 14.55 44 0 0.00 TTYH1 57348 genome.wustl.edu 37 19 54932529 54932529 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54932529 54932529 C T SNP TTYH1 ENST00000376531 human ensembl 70_37 +1 known silent c.384 p.H128 0.717 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 60 8 11.76 50 0 0.00 TTYH1 57348 genome.wustl.edu 37 19 54947898 54947898 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 54947898 54947898 C T SNP TTYH1 ENST00000489425 human ensembl 70_37 +1 known rna NULL NULL 0.062 - - - no_errors TTYH1 HGNC ENSG00000167614 18 5 21.74 20 0 0.00 TUB 7275 genome.wustl.edu 37 11 8117170 8117170 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 8117170 8117170 C T SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.688 p.R230W 0.051 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 34 13 27.66 71 0 0.00 TUB 7275 genome.wustl.edu 37 11 8119290 8119290 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 8119290 8119290 G C SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.1080 p.K360N 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 176 52 22.81 252 0 0.00 TUB 7275 genome.wustl.edu 37 11 8120384 8120384 + Missense_Mutation SNP A A T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 8120384 8120384 A T SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.1243 p.S415C 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 156 51 24.64 177 1 0.56 TUBA1A 7846 genome.wustl.edu 37 12 49578810 49578810 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49578810 49578810 C T SNP TUBA1A ENST00000301071 human ensembl 70_37 -1 known missense c.1339 p.E447K 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA1A HGNC ENSG00000167552 87 35 28.69 84 0 0.00 TUBA1B 10376 genome.wustl.edu 37 12 49521749 49521749 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 49521749 49521749 C G SNP TUBA1B ENST00000336023 human ensembl 70_37 -1 known missense c.1348 p.E450Q 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 70 18 20.22 99 0 0.00 TUBA1B 10376 genome.wustl.edu 37 12 49522590 49522590 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 49522590 49522590 G A SNP TUBA1B ENST00000336023 human ensembl 70_37 -1 known silent c.507 p.F169 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 76 49 39.20 128 0 0.00 TUBA1C 84790 genome.wustl.edu 37 12 49582664 49582664 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49582664 49582664 G C SNP TUBA1C ENST00000549554 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TUBA1C HGNC ENSG00000167553 32 8 20.00 29 0 0.00 TUBA1C 84790 genome.wustl.edu 37 12 49663341 49663341 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 49663341 49663341 G A SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known missense c.97 p.D33N 0.997 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 112 23 17.04 110 0 0.00 TUBA1C 84790 genome.wustl.edu 37 12 49666530 49666530 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49666530 49666530 G A SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known silent c.870 p.E290 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 59 14 19.18 68 0 0.00 TUBA1C 84790 genome.wustl.edu 37 12 49666945 49666945 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 49666945 49666945 G C SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known missense c.1285 p.E429Q 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 88 60 40.00 101 0 0.00 TUBA3C 7278 genome.wustl.edu 37 13 19751573 19751573 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19751573 19751573 G T SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.550 p.P184T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 34 51 60.00 140 0 0.00 TUBA3C 7278 genome.wustl.edu 37 13 19751573 19751573 + Missense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 13 19751573 19751573 G T SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.550 p.P184T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 8 14 63.64 20 0 0.00 TUBA3C 7278 genome.wustl.edu 37 13 19753560 19753560 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 19753560 19753560 G C SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.147 p.F49L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 49 34 40.96 138 0 0.00 TUBA3D 113457 genome.wustl.edu 37 2 132235876 132235876 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132235876 132235876 C G SNP TUBA3D ENST00000321253 human ensembl 70_37 +1 known missense c.143 p.S48C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 54 44 44.90 75 0 0.00 TUBA3E 112714 genome.wustl.edu 37 2 130949475 130949475 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 130949475 130949475 G A SNP TUBA3E ENST00000312988 human ensembl 70_37 -1 known silent c.1282 p.L428 0.998 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 63 43 40.57 124 0 0.00 TUBA3E 112714 genome.wustl.edu 37 2 130953801 130953801 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 130953801 130953801 G A SNP TUBA3E ENST00000312988 human ensembl 70_37 -1 known silent c.147 p.F49 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 71 21 22.83 96 0 0.00 TUBA3FP 113691 genome.wustl.edu 37 22 21362975 21362975 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21362975 21362975 T C SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 11 5 31.25 25 0 0.00 TUBA3FP 113691 genome.wustl.edu 37 22 21368163 21368163 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21368163 21368163 C G SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 5 5 50.00 8 0 0.00 TUBA3FP 113691 genome.wustl.edu 37 22 21368230 21368230 + RNA SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 22 21368230 21368230 G A SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TUBA3FP HGNC ENSG00000161149 3 7 70.00 14 0 0.00 TUBA4B 80086 genome.wustl.edu 37 2 220118077 220118077 + RNA DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 220118077 220118077 G - DEL TUBA4B ENST00000473885 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TUBA4B HGNC ENSG00000243910 7 3 30.00 17 0 0.00 TUBA4B 80086 genome.wustl.edu 37 2 220136719 220136719 + RNA SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 2 220136719 220136719 G A SNP TUBA4B ENST00000473885 human ensembl 70_37 +1 known rna NULL NULL 0.899 - - - no_errors TUBA4B HGNC ENSG00000243910 55 28 33.73 71 0 0.00 TUBA8 51807 genome.wustl.edu 37 22 18609310 18609310 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 22 18609310 18609310 C T SNP TUBA8 ENST00000330423 human ensembl 70_37 +1 known silent c.565 p.L189 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 80 9 10.11 88 0 0.00 TUBA8 51807 genome.wustl.edu 37 22 18609338 18609338 + Nonsense_Mutation SNP C C G TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 22 18609338 18609338 C G SNP TUBA8 ENST00000330423 human ensembl 70_37 +1 known nonsense c.593 p.S198* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 113 57 33.14 163 0 0.00 TUBA8 51807 genome.wustl.edu 37 22 18609626 18609626 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 18609626 18609626 C G SNP TUBA8 ENST00000330423 human ensembl 70_37 +1 known missense c.881 p.S294C 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 40 13 24.53 47 0 0.00 TUBB 203068 genome.wustl.edu 37 6 30691295 30691295 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30691295 30691295 C T SNP TUBB ENST00000327892 human ensembl 70_37 +1 known silent c.456 p.I152 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 72 30 29.41 79 0 0.00 TUBB 203068 genome.wustl.edu 37 6 30691419 30691419 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30691419 30691419 G C SNP TUBB ENST00000327892 human ensembl 70_37 +1 known missense c.580 p.E194Q 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 65 62 48.82 97 0 0.00 TUBB 203068 genome.wustl.edu 37 6 30691826 30691826 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 30691826 30691826 G A SNP TUBB ENST00000327892 human ensembl 70_37 +1 known silent c.987 p.Q329 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 121 59 32.60 119 0 0.00 TUBB1 81027 genome.wustl.edu 37 20 57598816 57598816 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 20 57598816 57598816 C T SNP TUBB1 ENST00000217133 human ensembl 70_37 +1 known silent c.334 p.L112 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 131 54 28.88 178 0 0.00 TUBB2A 7280 genome.wustl.edu 37 6 3154871 3154871 + Silent SNP A A C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 3154871 3154871 A C SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.564 p.S188 0.003 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 216 24 10.00 231 0 0.00 TUBB2A 7280 genome.wustl.edu 37 6 3154874 3154874 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 3154874 3154874 G A SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.561 p.L187 0.065 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 86 10 10.42 86 0 0.00 TUBB2A 7280 genome.wustl.edu 37 6 3154970 3154970 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 3154970 3154970 G A SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.465 p.I155 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 6 33 84.62 37 0 0.00 TUBB2B 347733 genome.wustl.edu 37 6 3224671 3224671 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 3224671 3224671 C A SNP TUBB2B ENST00000473006 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBB2B HGNC ENSG00000137285 17 6 26.09 10 0 0.00 TUBB2B 347733 genome.wustl.edu 37 6 3224826 3224826 + RNA SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 3224826 3224826 A G SNP TUBB2B ENST00000473006 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TUBB2B HGNC ENSG00000137285 58 34 36.96 107 0 0.00 TUBB3 10381 genome.wustl.edu 37 16 90001669 90001669 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 90001669 90001669 C T SNP TUBB3 ENST00000315491 human ensembl 70_37 +1 known silent c.810 p.F270 0.912 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_genename ENSG00000258947 62 17 21.52 120 0 0.00 TUBB4A 10382 genome.wustl.edu 37 19 6495204 6495204 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 6495204 6495204 C G SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known missense c.1306 p.E436Q 1.000 prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 53 32 37.65 74 0 0.00 TUBB4A 10382 genome.wustl.edu 37 19 6495889 6495889 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6495889 6495889 G C SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known silent c.621 p.L207 0.971 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 76 55 41.98 112 0 0.00 TUBB4A 10382 genome.wustl.edu 37 19 6501390 6501390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 6501390 6501390 C T SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known missense c.185 p.R62K 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 62 14 18.42 73 0 0.00 TUBB4B 10383 genome.wustl.edu 37 9 140137904 140137904 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140137904 140137904 G A SNP TUBB4B ENST00000340384 human ensembl 70_37 +1 known missense c.1234 p.E412K 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 93 52 35.86 133 1 0.75 TUBB8 347688 genome.wustl.edu 37 10 93876 93876 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 93876 93876 G A SNP TUBB8 ENST00000328974 human ensembl 70_37 -1 known silent c.456 p.L152 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 206 24 10.39 313 0 0.00 TUBB8 347688 genome.wustl.edu 37 10 94670 94670 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 94670 94670 G A SNP TUBB8 ENST00000272035 human ensembl 70_37 -1 putative missense c.164 p.T55M 0.488 smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB8 HGNC ENSG00000173876 78 13 14.29 69 0 0.00 TUBBP1 92755 genome.wustl.edu 37 8 30209526 30209526 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 30209526 30209526 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 20 26 56.52 82 0 0.00 TUBBP1 92755 genome.wustl.edu 37 8 30209644 30209644 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 30209644 30209644 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 26 30 53.57 29 0 0.00 TUBBP1 92755 genome.wustl.edu 37 8 30209644 30209644 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 30209644 30209644 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 29 32 52.46 48 0 0.00 TUBBP1 92755 genome.wustl.edu 37 8 30209689 30209689 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 30209689 30209689 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors TUBBP1 HGNC ENSG00000127589 111 41 26.97 141 0 0.00 TUBBP1 92755 genome.wustl.edu 37 8 30209807 30209807 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 30209807 30209807 C T SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 78 42 35.00 144 0 0.00 TUBBP5 643224 genome.wustl.edu 37 9 141069540 141069540 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 141069540 141069540 G C SNP TUBBP5 ENST00000290377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 45 25 35.71 85 0 0.00 TUBBP5 643224 genome.wustl.edu 37 9 141070177 141070177 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 141070177 141070177 G T SNP TUBBP5 ENST00000503395 human ensembl 70_37 +1 known rna NULL NULL 0.412 - - - no_errors TUBBP5 HGNC ENSG00000159247 50 33 39.76 108 0 0.00 TUBBP5 643224 genome.wustl.edu 37 9 141070325 141070325 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 141070325 141070325 C T SNP TUBBP5 ENST00000503395 human ensembl 70_37 +1 known rna NULL NULL 0.246 - - - no_errors TUBBP5 HGNC ENSG00000159247 23 12 34.29 44 0 0.00 TUBBP5 643224 genome.wustl.edu 37 9 141071339 141071339 + RNA SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 9 141071339 141071339 C T SNP TUBBP5 ENST00000290377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 48 18 27.27 71 0 0.00 TUBBP5 643224 genome.wustl.edu 37 9 141071667 141071667 + RNA SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 9 141071667 141071667 C T SNP TUBBP5 ENST00000290377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 234 40 14.60 182 1 0.55 TUBD1 51174 genome.wustl.edu 37 17 57937752 57937752 + Silent SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 57937752 57937752 G T SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known silent c.1293 p.I431 0.988 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 68 17 20.00 85 0 0.00 TUBD1 51174 genome.wustl.edu 37 17 57941116 57941116 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 57941116 57941116 C G SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known missense c.1168 p.E390Q 1.000 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 43 37 46.25 69 0 0.00 TUBD1 51174 genome.wustl.edu 37 17 57941134 57941134 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 57941134 57941134 G A SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known missense c.1150 p.R384W 0.788 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 17 12 41.38 59 0 0.00 TUBD1 51174 genome.wustl.edu 37 17 57958298 57958298 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 57958298 57958298 G C SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known nonsense c.494 p.S165* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 258 180 41.10 352 0 0.00 TUBE1 51175 genome.wustl.edu 37 6 112397151 112397151 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 112397151 112397151 G A SNP TUBE1 ENST00000368662 human ensembl 70_37 -1 known silent c.801 p.L267 0.997 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 60 15 20.00 47 0 0.00 TUBG1 7283 genome.wustl.edu 37 17 40765904 40765904 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 40765904 40765904 G A SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.731 p.R244H 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 51 25 32.89 64 0 0.00 TUBG1 7283 genome.wustl.edu 37 17 40766958 40766958 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 40766958 40766958 G C SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.1255 p.D419H 1.000 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 51 18 26.09 81 0 0.00 TUBG1 7283 genome.wustl.edu 37 17 40766963 40766963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40766963 40766963 G C SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.1260 p.E420D 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 35 17 32.69 65 0 0.00 TUBG2 27175 genome.wustl.edu 37 17 40812669 40812669 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40812669 40812669 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known missense c.343 p.H115Y 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 30 13 30.23 51 0 0.00 TUBG2 27175 genome.wustl.edu 37 17 40818127 40818127 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 40818127 40818127 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known missense c.866 p.T289M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 37 9 19.57 32 0 0.00 TUBG2 27175 genome.wustl.edu 37 17 40818755 40818755 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 40818755 40818755 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known silent c.1293 p.L431 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 62 22 26.19 94 0 0.00 TUBGCP2 10844 genome.wustl.edu 37 10 135094896 135094896 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 135094896 135094896 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.2538 p.F846 0.894 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 49 11 18.33 81 0 0.00 TUBGCP2 10844 genome.wustl.edu 37 10 135096699 135096699 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 135096699 135096699 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.2256 p.G752 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 42 5 10.64 63 0 0.00 TUBGCP2 10844 genome.wustl.edu 37 10 135110841 135110841 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 135110841 135110841 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.684 p.C228 0.020 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 28 4 12.12 26 0 0.00 TUBGCP2 10844 genome.wustl.edu 37 10 135112976 135112976 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 135112976 135112976 C T SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.411 p.L137 1.000 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 45 9 16.67 77 0 0.00 TUBGCP3 10426 genome.wustl.edu 37 13 113158448 113158448 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 113158448 113158448 C G SNP TUBGCP3 ENST00000261965 human ensembl 70_37 -1 known missense c.2205 p.W735C 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC ENSG00000126216 52 26 33.33 85 0 0.00 TUBGCP3 10426 genome.wustl.edu 37 13 113213684 113213684 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 113213684 113213684 G A SNP TUBGCP3 ENST00000261965 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC ENSG00000126216 26 9 25.71 67 0 0.00 TUBGCP4 27229 genome.wustl.edu 37 15 43687352 43687352 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 43687352 43687352 G A SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known silent c.1062 p.L354 0.983 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC ENSG00000137822 41 21 33.87 38 0 0.00 TUBGCP4 27229 genome.wustl.edu 37 15 43695887 43695887 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 43695887 43695887 C T SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known missense c.1741 p.H581Y 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC ENSG00000137822 100 40 28.57 125 0 0.00 TUBGCP4 27229 genome.wustl.edu 37 15 43695904 43695904 + Silent SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 43695904 43695904 C A SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known silent c.1758 p.I586 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC ENSG00000137822 95 38 28.57 107 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22833552 22833552 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 22833552 22833552 C T SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.28 p.R10W 0.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC ENSG00000153575 29 20 40.82 34 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22833552 22833552 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 22833552 22833552 C T SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.28 p.R10W 0.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC ENSG00000153575 6 4 40.00 9 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22848316 22848316 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22848316 22848316 A C SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known silent c.906 p.V302 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC ENSG00000153575 13 7 35.00 33 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22849171 22849171 + RNA SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 15 22849171 22849171 G A SNP TUBGCP5 ENST00000559846 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors TUBGCP5 HGNC ENSG00000153575 13 7 33.33 17 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22867457 22867457 + Splice_Site SNP G G C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 22867457 22867457 G C SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known splice_site c.2534-1 e19-1 1.000 - - - no_errors TUBGCP5 HGNC ENSG00000153575 9 3 25.00 31 0 0.00 TUBGCP5 114791 genome.wustl.edu 37 15 22867488 22867488 + Missense_Mutation SNP T T G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 22867488 22867488 T G SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.2564 p.L855R 0.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC ENSG00000153575 31 12 27.91 57 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50656698 50656698 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 50656698 50656698 G C SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.5088 p.F1696L 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 20 11 34.38 52 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50657019 50657019 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50657019 50657019 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4852 p.E1618K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 47 8 14.29 50 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50657188 50657188 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 50657188 50657188 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4765 p.E1589K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 29 12 29.27 32 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50657188 50657188 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 22 50657188 50657188 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4765 p.E1589K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 74 20 21.05 94 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50659792 50659792 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 50659792 50659792 G A SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.2996 p.S999L 0.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 33 11 25.00 47 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50664366 50664366 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 22 50664366 50664366 G A SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.1840 p.L614F 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 16 7 30.43 32 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50664587 50664587 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 50664587 50664587 G C SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known silent c.1725 p.L575 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 34 17 33.33 49 0 0.00 TUBGCP6 85378 genome.wustl.edu 37 22 50667952 50667952 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50667952 50667952 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.1171 p.E391K 0.995 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 20 18 47.37 32 0 0.00 TUFT1 7286 genome.wustl.edu 37 1 151534633 151534633 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 151534633 151534633 G A SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.184 p.A62T 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 135 17 11.18 116 0 0.00 TUFT1 7286 genome.wustl.edu 37 1 151536388 151536388 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151536388 151536388 G C SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 93 12 11.43 105 0 0.00 TUFT1 7286 genome.wustl.edu 37 1 151536388 151536388 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 151536388 151536388 G C SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 60 40 39.60 67 0 0.00 TULP1 7287 genome.wustl.edu 37 6 35473852 35473852 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 35473852 35473852 C T SNP TULP1 ENST00000229771 human ensembl 70_37 -1 known silent c.927 p.L309 0.924 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 36 13 26.53 28 0 0.00 TULP2 7288 genome.wustl.edu 37 19 49392834 49392834 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 49392834 49392834 G T SNP TULP2 ENST00000221399 human ensembl 70_37 -1 known nonsense c.569 p.S190* 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 84 23 21.50 108 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158834175 158834175 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 158834175 158834175 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known nonsense c.331 p.Q111* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 24 11 31.43 29 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158870081 158870081 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 158870081 158870081 A G SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known silent c.597 p.R199 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 57 9 13.64 73 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158873197 158873197 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 158873197 158873197 G C SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.756 p.Q252H 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 93 50 34.97 122 1 0.81 TULP4 56995 genome.wustl.edu 37 6 158910645 158910645 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 158910645 158910645 T G SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.1512 p.I504M 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 36 7 16.28 73 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158923338 158923338 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 158923338 158923338 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known silent c.2643 p.T881 0.998 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 12 13 52.00 17 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158923715 158923715 + Frame_Shift_Del DEL C C - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 6 158923715 158923715 C - DEL TULP4 ENST00000367097 human ensembl 70_37 +1 known frame_shift_del c.3020 p.L1009fs 0.925 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 13 5 27.78 8 0 0.00 TULP4 56995 genome.wustl.edu 37 6 158923775 158923775 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 158923775 158923775 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.3080 p.P1027L 0.222 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 17 3 15.00 18 0 0.00 TUSC1 286319 genome.wustl.edu 37 9 25677788 25677788 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 25677788 25677788 C G SNP TUSC1 ENST00000358022 human ensembl 70_37 -1 known missense c.532 p.E178Q 0.797 NULL NULL - no_errors TUSC1 HGNC ENSG00000198680 18 29 61.70 21 0 0.00 TUSC1 286319 genome.wustl.edu 37 9 25677836 25677836 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 25677836 25677836 C G SNP TUSC1 ENST00000358022 human ensembl 70_37 -1 known missense c.484 p.E162Q 0.901 NULL NULL - no_errors TUSC1 HGNC ENSG00000198680 17 6 26.09 21 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62342669 62342669 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 62342669 62342669 C T SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2636 p.R879Q 0.183 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 33 15 31.25 50 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62342749 62342749 + Silent SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62342749 62342749 C A SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.2556 p.L852 0.925 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 54 22 28.95 51 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62342961 62342961 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62342961 62342961 C G SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2344 p.E782Q 0.017 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 27 9 25.00 11 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62343112 62343112 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62343112 62343112 A C SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.2193 p.V731 0.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 28 27 49.09 75 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62343193 62343193 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62343193 62343193 C G SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2112 p.Q704H 0.006 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 71 34 32.38 70 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62344739 62344739 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 62344739 62344739 G A SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.1299 p.F433 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 14 6 30.00 30 0 0.00 TUT1 64852 genome.wustl.edu 37 11 62348654 62348654 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 62348654 62348654 G C SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.728 p.S243C 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 7 11 61.11 11 0 0.00 TWF2 11344 genome.wustl.edu 37 3 52263189 52263189 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52263189 52263189 G A SNP TWF2 ENST00000305533 human ensembl 70_37 -1 known missense c.911 p.T304M 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF2 HGNC ENSG00000247596 11 4 26.67 36 0 0.00 TWIST1 7291 genome.wustl.edu 37 7 19156432 19156432 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 19156432 19156432 C G SNP TWIST1 ENST00000242261 human ensembl 70_37 -1 known missense c.513 p.K171N 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TWIST1 HGNC ENSG00000122691 54 14 20.59 71 0 0.00 TWIST2 117581 genome.wustl.edu 37 2 239757039 239757039 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 239757039 239757039 C G SNP TWIST2 ENST00000448943 human ensembl 70_37 +1 known missense c.183 p.F61L 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TWIST2 HGNC ENSG00000233608 15 9 37.50 21 0 0.00 TWISTNB 221830 genome.wustl.edu 37 7 19739762 19739762 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 19739762 19739762 C A SNP TWISTNB ENST00000222567 human ensembl 70_37 -1 known nonsense c.538 p.E180* 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 67 16 19.28 71 0 0.00 TXK 7294 genome.wustl.edu 37 4 48069682 48069682 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 48069682 48069682 G C SNP TXK ENST00000264316 human ensembl 70_37 -1 known missense c.1556 p.A519G 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 63 33 34.38 84 0 0.00 TXK 7294 genome.wustl.edu 37 4 48073610 48073610 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 48073610 48073610 G C SNP TXK ENST00000264316 human ensembl 70_37 -1 known missense c.1439 p.S480C 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 20 8 28.57 39 0 0.00 TXLNA 200081 genome.wustl.edu 37 1 32646028 32646028 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 32646028 32646028 G A SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.82 p.E28K 0.956 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 32 12 27.27 47 0 0.00 TXLNA 200081 genome.wustl.edu 37 1 32655836 32655836 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32655836 32655836 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 34 25 41.67 68 0 0.00 TXLNA 200081 genome.wustl.edu 37 1 32660604 32660604 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 32660604 32660604 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.1449 p.K483N 1.000 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 29 20 40.82 40 0 0.00 TXLNA 200081 genome.wustl.edu 37 1 32660659 32660659 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 32660659 32660659 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.1504 p.E502Q 0.939 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 26 12 31.58 34 0 0.00 TXLNB 167838 genome.wustl.edu 37 6 139583895 139583895 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 139583895 139583895 G A SNP TXLNB ENST00000358430 human ensembl 70_37 -1 known missense c.703 p.R235W 0.998 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 82 22 20.95 131 1 0.76 TXLNB 167838 genome.wustl.edu 37 6 139609794 139609794 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 139609794 139609794 G T SNP TXLNB ENST00000358430 human ensembl 70_37 -1 known silent c.243 p.G81 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 84 13 13.40 108 0 0.00 TXLNG 55787 genome.wustl.edu 37 X 16804696 16804696 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 16804696 16804696 G A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known missense c.86 p.R29H 1.000 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 14 3 17.65 11 0 0.00 TXLNG 55787 genome.wustl.edu 37 X 16804697 16804697 + Silent SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 16804697 16804697 C A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known silent c.87 p.R29 0.998 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 14 3 17.65 10 0 0.00 TXLNG 55787 genome.wustl.edu 37 X 16836838 16836838 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 16836838 16836838 G A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known missense c.244 p.E82K 0.996 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 26 14 35.00 74 0 0.00 TXLNG 55787 genome.wustl.edu 37 X 16859626 16859626 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 16859626 16859626 C A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known missense c.1324 p.Q442K 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 33 4 10.81 34 0 0.00 TXN2 25828 genome.wustl.edu 37 22 36863839 36863839 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 36863839 36863839 C T SNP TXN2 ENST00000487725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TXN2 HGNC ENSG00000100348 25 15 37.50 44 0 0.00 TXNDC11 51061 genome.wustl.edu 37 16 11773493 11773493 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 16 11773493 11773493 G A SNP TXNDC11 ENST00000356957 human ensembl 70_37 -1 known missense c.2516 p.A839V 0.159 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 11 25 69.44 34 0 0.00 TXNDC11 51061 genome.wustl.edu 37 16 11824515 11824515 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 11824515 11824515 G T SNP TXNDC11 ENST00000356957 human ensembl 70_37 -1 known missense c.685 p.L229I 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 27 4 12.90 35 0 0.00 TXNDC16 57544 genome.wustl.edu 37 14 52907355 52907355 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 52907355 52907355 G C SNP TXNDC16 ENST00000281741 human ensembl 70_37 -1 known missense c.1930 p.Q644E 0.042 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 43 10 18.87 34 0 0.00 TXNDC16 57544 genome.wustl.edu 37 14 52957624 52957624 + Missense_Mutation SNP C C A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 52957624 52957624 C A SNP TXNDC16 ENST00000281741 human ensembl 70_37 -1 known missense c.856 p.D286Y 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 76 11 12.64 36 0 0.00 TXNDC16 57544 genome.wustl.edu 37 14 52986004 52986004 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 52986004 52986004 G C SNP TXNDC16 ENST00000281741 human ensembl 70_37 -1 known missense c.400 p.L134V 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 78 10 11.36 98 0 0.00 TXNDC17 84817 genome.wustl.edu 37 17 6545058 6545058 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6545058 6545058 C G SNP TXNDC17 ENST00000571029 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNDC17 HGNC ENSG00000129235 29 11 27.50 19 0 0.00 TXNDC2 84203 genome.wustl.edu 37 18 9886715 9886715 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886715 9886715 C A SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.239 p.S80Y 0.001 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 36 22 37.93 36 0 0.00 TXNDC2 84203 genome.wustl.edu 37 18 9886724 9886724 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886724 9886724 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.248 p.S83L 0.001 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 37 22 37.29 39 0 0.00 TXNDC2 84203 genome.wustl.edu 37 18 9886754 9886754 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886754 9886754 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.278 p.S93L 0.005 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 43 22 33.85 45 0 0.00 TXNDC2 84203 genome.wustl.edu 37 18 9886830 9886830 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 9886830 9886830 C G SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.354 p.D118E 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 49 10 16.95 65 0 0.00 TXNDC2 84203 genome.wustl.edu 37 18 9886887 9886887 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 9886887 9886887 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known silent c.411 p.S137 0.001 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 41 12 22.64 68 0 0.00 TXNDC5 81567 genome.wustl.edu 37 6 7886214 7886214 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 7886214 7886214 G A SNP TXNDC5 ENST00000379757 human ensembl 70_37 -1 known silent c.1026 p.F342 0.772 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 13 80 86.02 82 0 0.00 TXNDC5 81567 genome.wustl.edu 37 6 7895362 7895362 + Missense_Mutation SNP T T G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 7895362 7895362 T G SNP TXNDC5 ENST00000379757 human ensembl 70_37 -1 known missense c.593 p.N198T 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 31 19 38.00 63 0 0.00 TXNDC8 255220 genome.wustl.edu 37 9 113065834 113065834 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 113065834 113065834 T G SNP TXNDC8 ENST00000374511 human ensembl 70_37 -1 known missense c.351 p.K117N 0.009 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC8 HGNC ENSG00000204193 38 18 32.14 72 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145439808 145439808 + Silent SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 145439808 145439808 T C SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known silent c.354 p.Y118 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 35 62 63.92 79 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145440399 145440402 + Frame_Shift_Del DEL ATCA ATCA - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 ATCA ATCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 145440399 145440402 ATCA - DEL TXNIP ENST00000369317 human ensembl 70_37 +1 known frame_shift_del c.705_708 p.V237fs 0.699:0.919:0.919:0.052 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 62 14 18.42 34 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145440941 145440941 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145440941 145440941 G C SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known missense c.1028 p.R343P 0.798 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 302 51 14.45 257 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145441217 145441217 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 145441217 145441217 G A SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known silent c.1175 p.*392 0.999 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 93 24 20.51 106 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145442122 145442122 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 145442122 145442122 T G SNP TXNIP ENST00000475171 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNIP HGNC ENSG00000117289 5 6 54.55 28 0 0.00 TXNIP 10628 genome.wustl.edu 37 1 145442568 145442568 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 145442568 145442568 A G SNP TXNIP ENST00000475171 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TXNIP HGNC ENSG00000117289 20 9 31.03 45 0 0.00 TXNL1 9352 genome.wustl.edu 37 18 54266502 54266502 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 54266502 54266502 G A SNP TXNL1 ENST00000585497 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TXNL1 HGNC ENSG00000091164 3 29 90.62 27 0 0.00 TXNL1 9352 genome.wustl.edu 37 18 54305579 54305579 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 54305579 54305579 C T SNP TXNL1 ENST00000217515 human ensembl 70_37 -1 known missense c.93 p.M31I 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC ENSG00000091164 47 9 16.07 71 0 0.00 TXNL4A 10907 genome.wustl.edu 37 18 77737623 77737623 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 77737623 77737623 G A SNP TXNL4A ENST00000269601 human ensembl 70_37 -1 known missense c.232 p.P78S 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC ENSG00000141759 42 16 27.59 65 0 0.00 TXNL4A 10907 genome.wustl.edu 37 18 77748266 77748266 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 77748266 77748266 C G SNP TXNL4A ENST00000269601 human ensembl 70_37 -1 known missense c.127 p.E43Q 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC ENSG00000141759 107 14 11.57 145 0 0.00 TXNL4B 54957 genome.wustl.edu 37 16 72122968 72122968 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 72122968 72122968 C G SNP TXNL4B ENST00000268483 human ensembl 70_37 -1 known missense c.202 p.V68L 0.824 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4B HGNC ENSG00000140830 31 34 52.31 83 0 0.00 TXNRD1 7296 genome.wustl.edu 37 12 104682685 104682685 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 104682685 104682685 C G SNP TXNRD1 ENST00000378070 human ensembl 70_37 +1 known missense c.128 p.S43C 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 18 11 37.93 39 0 0.00 TXNRD1 7296 genome.wustl.edu 37 12 104719207 104719207 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 104719207 104719207 G A SNP TXNRD1 ENST00000429002 human ensembl 70_37 +1 known silent c.1308 p.T436 0.998 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 13 4 23.53 21 0 0.00 TXNRD1 7296 genome.wustl.edu 37 12 104725378 104725378 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 104725378 104725378 G C SNP TXNRD1 ENST00000429002 human ensembl 70_37 +1 known missense c.1609 p.E537Q 1.000 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 54 14 20.59 36 0 0.00 TXNRD2 10587 genome.wustl.edu 37 22 19903312 19903312 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19903312 19903312 G A SNP TXNRD2 ENST00000535882 human ensembl 70_37 -1 known silent c.501 p.C167 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 28 25 46.30 35 0 0.00 TXNRD2 10587 genome.wustl.edu 37 22 19906448 19906448 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 19906448 19906448 C T SNP TXNRD2 ENST00000535882 human ensembl 70_37 -1 known silent c.306 p.L102 0.996 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 15 16 51.61 32 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10461627 10461627 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461627 10461627 C G SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3447 p.K1149N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 28 22 44.00 33 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10461768 10461768 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461768 10461768 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3389 p.R1130Q 0.591 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 28 23 45.10 31 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10461781 10461781 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461781 10461781 C G SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3376 p.E1126Q 0.327 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 31 20 39.22 33 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10461839 10461839 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10461839 10461839 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known splice_site c.3319-1 e22-1 1.000 - - - no_errors TYK2 HGNC ENSG00000105397 20 10 33.33 21 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10463228 10463228 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 10463228 10463228 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known splice_site c.3201-1 e21-1 1.000 - - - no_errors TYK2 HGNC ENSG00000105397 23 20 46.51 37 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10463746 10463746 + Missense_Mutation SNP T T C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 19 10463746 10463746 T C SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.3056 p.Y1019C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 51 10 16.39 61 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10468252 10468252 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 10468252 10468252 G A SNP TYK2 ENST00000529370 human ensembl 70_37 -1 putative missense c.2654 p.S885L 0.000 pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_TYK2_N,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYK2 HGNC ENSG00000105397 34 16 32.00 51 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10468442 10468442 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 10468442 10468442 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.2464 p.E822K 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 20 5 20.00 19 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10469949 10469949 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 10469949 10469949 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.2077 p.G693R 0.991 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 103 22 17.60 99 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10472206 10472206 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 10472206 10472206 G A SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known silent c.2028 p.V676 0.988 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 61 14 18.67 59 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10478851 10478851 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 10478851 10478851 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.345 p.M115I 0.011 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 103 23 18.25 84 0 0.00 TYK2 7297 genome.wustl.edu 37 19 10478851 10478851 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 10478851 10478851 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.345 p.M115I 0.011 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 41 15 26.79 22 0 0.00 TYMP 1890 genome.wustl.edu 37 22 50966024 50966024 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 22 50966024 50966024 G A SNP TYMP ENST00000252029 human ensembl 70_37 -1 known silent c.639 p.L213 0.971 pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 30 11 26.83 39 0 0.00 TYMP 1890 genome.wustl.edu 37 22 50967988 50967988 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 22 50967988 50967988 C T SNP TYMP ENST00000252029 human ensembl 70_37 -1 known missense c.151 p.E51K 0.290 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 44 37 45.68 46 0 0.00 TYMS 7298 genome.wustl.edu 37 18 670729 670729 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 670729 670729 C G SNP TYMS ENST00000323274 human ensembl 70_37 +1 known silent c.594 p.L198 0.884 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 49 36 42.35 79 0 0.00 TYMS 7298 genome.wustl.edu 37 18 672892 672892 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 672892 672892 C G SNP TYMS ENST00000323274 human ensembl 70_37 +1 known silent c.837 p.L279 1.000 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 26 4 13.33 38 0 0.00 TYR 7299 genome.wustl.edu 37 11 88911211 88911211 + Silent SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 88911211 88911211 G C SNP TYR ENST00000263321 human ensembl 70_37 +1 known silent c.90 p.L30 0.955 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 32 8 20.00 32 0 0.00 TYR 7299 genome.wustl.edu 37 11 88911318 88911318 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 88911318 88911318 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known missense c.197 p.G66E 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 24 11 31.43 45 0 0.00 TYR 7299 genome.wustl.edu 37 11 88911391 88911391 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 88911391 88911391 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known silent c.270 p.Q90 0.968 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 36 10 21.74 72 0 0.00 TYR 7299 genome.wustl.edu 37 11 89017961 89017961 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 89017961 89017961 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known missense c.1205 p.R402Q 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 43 14 24.56 47 0 0.00 TYRO3 7301 genome.wustl.edu 37 15 41859705 41859705 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 41859705 41859705 G C SNP TYRO3 ENST00000263798 human ensembl 70_37 +1 known missense c.931 p.D311H 0.999 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 148 31 17.32 235 0 0.00 TYRO3 7301 genome.wustl.edu 37 15 41861203 41861203 + Missense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 15 41861203 41861203 C A SNP TYRO3 ENST00000263798 human ensembl 70_37 +1 known missense c.1235 p.S412Y 0.992 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 7 11 61.11 29 0 0.00 TYROBP 7305 genome.wustl.edu 37 19 36395531 36395531 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 36395531 36395531 G C SNP TYROBP ENST00000262629 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 20 5 20.00 43 0 0.00 TYROBP 7305 genome.wustl.edu 37 19 36398351 36398351 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 36398351 36398351 C T SNP TYROBP ENST00000262629 human ensembl 70_37 -1 known missense c.226 p.E76K 0.004 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 47 9 16.07 36 0 0.00 TYRP1 7306 genome.wustl.edu 37 9 12694281 12694281 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 12694281 12694281 C T SNP TYRP1 ENST00000388918 human ensembl 70_37 +1 known silent c.285 p.F95 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 4 11 73.33 20 0 0.00 TYSND1 219743 genome.wustl.edu 37 10 71899626 71899626 + RNA SNP C C G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 10 71899626 71899626 C G SNP TYSND1 ENST00000479086 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TYSND1 HGNC ENSG00000156521 42 29 40.85 68 0 0.00 TYSND1 219743 genome.wustl.edu 37 10 71899836 71899836 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 71899836 71899836 G C SNP TYSND1 ENST00000287078 human ensembl 70_37 -1 known missense c.1545 p.F515L 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 77 20 20.41 118 0 0.00 TYW1 55253 genome.wustl.edu 37 7 66460413 66460413 + RNA SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 7 66460413 66460413 T C SNP TYW1 ENST00000491969 human ensembl 70_37 +1 known rna NULL NULL 0.904 - - - no_errors TYW1 HGNC ENSG00000198874 105 22 17.32 24 0 0.00 TYW1 55253 genome.wustl.edu 37 7 66532313 66532313 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 66532313 66532313 C A SNP TYW1 ENST00000359626 human ensembl 70_37 +1 known missense c.1197 p.F399L 1.000 NULL pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 52 8 13.33 94 0 0.00 TYW1B 441250 genome.wustl.edu 37 7 72277881 72277881 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 72277881 72277881 G A SNP TYW1B ENST00000437915 human ensembl 70_37 -1 known rna NULL NULL 0.847 - - - no_errors TYW1B HGNC ENSG00000254184 64 31 32.63 68 0 0.00 TYW3 127253 genome.wustl.edu 37 1 75202091 75202091 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 75202091 75202091 G A SNP TYW3 ENST00000483990 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TYW3 HGNC ENSG00000162623 11 12 52.17 22 0 0.00 TYW5 129450 genome.wustl.edu 37 2 200808492 200808492 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 200808492 200808492 G C SNP TYW5 ENST00000354611 human ensembl 70_37 -1 known nonsense c.299 p.S100* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 36 16 30.77 59 0 0.00 TYW5 129450 genome.wustl.edu 37 2 200820176 200820176 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 200820176 200820176 G A SNP TYW5 ENST00000354611 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 33 11 25.00 53 0 0.00 TYW5 129450 genome.wustl.edu 37 2 200820195 200820195 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 200820195 200820195 G A SNP TYW5 ENST00000452512 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TYW5 HGNC ENSG00000162971 47 24 33.80 52 0 0.00 U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 21 44524456 44524456 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 86 50 36.50 84 0 0.00 U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 44524456 44524456 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 25 12 32.43 45 0 0.00 U2AF1 7307 genome.wustl.edu 37 21 44527584 44527584 + Silent SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 21 44527584 44527584 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known silent c.21 p.S7 1.000 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 5 11 68.75 11 0 0.00 U2AF1L4 199746 genome.wustl.edu 37 19 36235398 36235398 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36235398 36235398 G T SNP U2AF1L4 ENST00000412391 human ensembl 70_37 -1 known missense c.243 p.F81L 1.000 smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1L4 HGNC ENSG00000161265 36 17 32.08 61 0 0.00 U2AF2 11338 genome.wustl.edu 37 19 56180459 56180459 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 56180459 56180459 G T SNP U2AF2 ENST00000308924 human ensembl 70_37 +1 known missense c.956 p.G319V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 40 10 19.61 69 0 0.00 U2SURP 23350 genome.wustl.edu 37 3 142731178 142731178 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 142731178 142731178 C T SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.205 p.H69Y 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 37 17 31.48 31 0 0.00 U2SURP 23350 genome.wustl.edu 37 3 142735174 142735174 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142735174 142735174 A G SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.397 p.K133E 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 127 27 17.53 165 0 0.00 U2SURP 23350 genome.wustl.edu 37 3 142773937 142773937 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142773937 142773937 G C SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.2927 p.R976T 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 6 2 25.00 24 0 0.00 UACA 55075 genome.wustl.edu 37 15 70952492 70952492 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 70952492 70952492 G T SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.4177 p.Q1393K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 16 3 15.79 31 0 0.00 UACA 55075 genome.wustl.edu 37 15 70959464 70959464 + Silent SNP A A G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 70959464 70959464 A G SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.3559 p.L1187 0.061 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 66 17 20.48 84 0 0.00 UACA 55075 genome.wustl.edu 37 15 70959510 70959510 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 70959510 70959510 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.3513 p.Q1171 0.509 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 30 20 40.00 40 0 0.00 UACA 55075 genome.wustl.edu 37 15 70959653 70959653 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 70959653 70959653 G A SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.3370 p.L1124F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 20 11 35.48 31 0 0.00 UACA 55075 genome.wustl.edu 37 15 70959889 70959889 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 70959889 70959889 C G SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.3134 p.R1045T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 61 15 19.48 122 0 0.00 UACA 55075 genome.wustl.edu 37 15 70960113 70960113 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 70960113 70960113 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.2910 p.Q970 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 21 11 34.38 28 0 0.00 UACA 55075 genome.wustl.edu 37 15 70960244 70960244 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 70960244 70960244 C G SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.2779 p.E927Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 10 15 60.00 27 0 0.00 UACA 55075 genome.wustl.edu 37 15 70960493 70960493 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 70960493 70960493 G A SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.2530 p.L844F 0.971 superfamily_Prefoldin pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 22 21 48.84 87 0 0.00 UACA 55075 genome.wustl.edu 37 15 70961363 70961363 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 70961363 70961363 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.1660 p.E554K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 47 10 17.54 60 0 0.00 UACA 55075 genome.wustl.edu 37 15 70961397 70961397 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 70961397 70961397 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.1626 p.L542 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 33 21 38.89 51 0 0.00 UAP1 6675 genome.wustl.edu 37 1 162546701 162546701 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162546701 162546701 C T SNP UAP1 ENST00000271469 human ensembl 70_37 +1 known nonsense c.415 p.Q139* 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 196 25 11.31 138 0 0.00 UAP1 6675 genome.wustl.edu 37 1 162560263 162560263 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162560263 162560263 C T SNP UAP1 ENST00000271469 human ensembl 70_37 +1 known silent c.1320 p.F440 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 146 29 16.57 126 0 0.00 UAP1 6675 genome.wustl.edu 37 1 162569088 162569088 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 162569088 162569088 G A SNP UAP1 ENST00000271469 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 NULL pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 30 7 18.92 39 0 0.00 UAP1L1 91373 genome.wustl.edu 37 9 139972841 139972841 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 139972841 139972841 C T SNP UAP1L1 ENST00000360271 human ensembl 70_37 +1 known missense c.13 p.P5S 0.000 NULL pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 50 13 20.63 55 0 0.00 UBA1 7317 genome.wustl.edu 37 X 47060913 47060913 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 47060913 47060913 C T SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known nonsense c.715 p.R239* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 44 35 44.30 86 0 0.00 UBA1 7317 genome.wustl.edu 37 X 47062948 47062948 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 47062948 47062948 G C SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known silent c.1428 p.A476 0.779 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 88 30 25.42 125 0 0.00 UBA1 7317 genome.wustl.edu 37 X 47071825 47071825 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47071825 47071825 G A SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known missense c.2467 p.D823N 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 37 5 11.90 61 0 0.00 UBA2 10054 genome.wustl.edu 37 19 34936007 34936007 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 34936007 34936007 C T SNP UBA2 ENST00000246548 human ensembl 70_37 +1 known missense c.752 p.P251L 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 46 35 43.21 89 0 0.00 UBA2 10054 genome.wustl.edu 37 19 34954993 34954993 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 34954993 34954993 G A SNP UBA2 ENST00000246548 human ensembl 70_37 +1 known missense c.1561 p.D521N 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 14 2 12.50 8 0 0.00 UBA3 9039 genome.wustl.edu 37 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 69124658 69124658 G C SNP UBA3 ENST00000361055 human ensembl 70_37 -1 known missense c.187 p.L63V 1.000 NULL pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC ENSG00000144744 46 33 41.77 65 0 0.00 UBA5 79876 genome.wustl.edu 37 3 132395370 132395370 + Nonstop_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 132395370 132395370 G C SNP UBA5 ENST00000356232 human ensembl 70_37 +1 known nonstop c.1215 p.*405Y 0.922 NULL pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA5 HGNC ENSG00000081307 14 11 44.00 17 0 0.00 UBA52 7311 genome.wustl.edu 37 19 18684538 18684538 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 19 18684538 18684538 C T SNP UBA52 ENST00000430157 human ensembl 70_37 +1 known missense c.170 p.S57L 0.999 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBA52 HGNC ENSG00000221983 35 14 28.57 61 0 0.00 UBA6 55236 genome.wustl.edu 37 4 68511735 68511735 + Splice_Site SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 68511735 68511735 C G SNP UBA6 ENST00000322244 human ensembl 70_37 -1 known splice_site c.1317-1 e16-1 1.000 - - - no_errors UBA6 HGNC ENSG00000033178 36 13 26.53 34 0 0.00 UBA7 7318 genome.wustl.edu 37 3 49847050 49847050 + Silent SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 49847050 49847050 C T SNP UBA7 ENST00000333486 human ensembl 70_37 -1 known silent c.2013 p.A671 0.128 superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 19 6 24.00 41 0 0.00 UBA7 7318 genome.wustl.edu 37 3 49848801 49848801 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49848801 49848801 C A SNP UBA7 ENST00000333486 human ensembl 70_37 -1 known nonsense c.1027 p.E343* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 28 6 17.65 29 0 0.00 UBAC1 10422 genome.wustl.edu 37 9 138847247 138847247 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 138847247 138847247 G A SNP UBAC1 ENST00000371756 human ensembl 70_37 -1 known silent c.153 p.S51 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 207 155 42.70 497 0 0.00 UBAP1 51271 genome.wustl.edu 37 9 34249786 34249786 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34249786 34249786 C T SNP UBAP1 ENST00000545103 human ensembl 70_37 +1 known missense c.1285 p.P429S 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 25 23 47.92 63 0 0.00 UBAP2 55833 genome.wustl.edu 37 9 33922521 33922521 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 33922521 33922521 G A SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.3341 p.S1114F 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 10 4 28.57 11 0 0.00 UBAP2 55833 genome.wustl.edu 37 9 33922757 33922757 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 33922757 33922757 G C SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.3192 p.F1064L 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 28 15 34.88 37 0 0.00 UBAP2 55833 genome.wustl.edu 37 9 33953364 33953364 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 33953364 33953364 G A SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known silent c.975 p.F325 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 35 12 25.53 42 0 0.00 UBAP2 55833 genome.wustl.edu 37 9 33996307 33996307 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 33996307 33996307 G C SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.202 p.Q68E 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 17 13 43.33 35 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154201178 154201178 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 154201178 154201178 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.256 p.L86F 1.000 superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 23 21 47.73 46 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154221753 154221753 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154221753 154221753 A C SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1053 p.E351D 0.988 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 11 15 57.69 41 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154223747 154223747 + Nonsense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 1 154223747 154223747 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known nonsense c.1444 p.Q482* 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 74 12 13.95 53 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154223781 154223781 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 154223781 154223781 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1478 p.S493F 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 42 16 27.59 58 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154226534 154226534 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 154226534 154226534 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1823 p.S608L 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 35 5 12.50 41 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154241393 154241393 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 154241393 154241393 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.3131 p.S1044F 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 82 43 34.40 87 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154241466 154241466 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154241466 154241466 C T SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors UBAP2L HGNC ENSG00000143569 31 14 31.11 33 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154241746 154241746 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241746 154241746 C G SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 0.833 - - - no_errors UBAP2L HGNC ENSG00000143569 23 46 66.67 19 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154241823 154241823 + RNA SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241823 154241823 C A SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBAP2L HGNC ENSG00000143569 42 52 55.32 35 0 0.00 UBAP2L 9898 genome.wustl.edu 37 1 154241829 154241829 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 1 154241829 154241829 C T SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBAP2L HGNC ENSG00000143569 43 52 54.74 36 0 0.00 UBASH3A 53347 genome.wustl.edu 37 21 43867194 43867194 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 43867194 43867194 G A SNP UBASH3A ENST00000319294 human ensembl 70_37 +1 known missense c.1876 p.E626K 0.987 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 176 82 31.78 242 0 0.00 UBASH3B 84959 genome.wustl.edu 37 11 122665486 122665486 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 122665486 122665486 G A SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1057 p.E353K 0.999 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 26 11 29.73 61 0 0.00 UBASH3B 84959 genome.wustl.edu 37 11 122678796 122678796 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 122678796 122678796 C T SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1724 p.A575V 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 23 13 36.11 64 0 0.00 UBASH3B 84959 genome.wustl.edu 37 11 122680574 122680574 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 122680574 122680574 G C SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1930 p.E644Q 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 24 21 46.67 72 0 0.00 UBC 7316 genome.wustl.edu 37 12 125396263 125396263 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 125396263 125396263 G C SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.2055 p.V685 0.104 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 65 8 10.96 52 0 0.00 UBC 7316 genome.wustl.edu 37 12 125396452 125396452 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 125396452 125396452 G T SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.1866 p.T622 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 52 23 30.67 92 0 0.00 UBC 7316 genome.wustl.edu 37 12 125396957 125396957 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 125396957 125396957 C G SNP UBC ENST00000339647 human ensembl 70_37 -1 known missense c.1361 p.R454T 0.238 pfam_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 18 12 40.00 10 0 0.00 UBC 7316 genome.wustl.edu 37 12 125397061 125397061 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125397061 125397061 G A SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.1257 p.D419 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 83 15 15.31 95 0 0.00 UBC 7316 genome.wustl.edu 37 12 125398044 125398044 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 125398044 125398044 C G SNP UBC ENST00000339647 human ensembl 70_37 -1 known missense c.274 p.E92Q 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 64 17 20.99 145 0 0.00 UBD 10537 genome.wustl.edu 37 6 29523823 29523823 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 29523823 29523823 G A SNP UBD ENST00000377050 human ensembl 70_37 -1 known missense c.332 p.S111L 0.997 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBD HGNC ENSG00000213886 46 30 39.47 57 0 0.00 UBE2B 7320 genome.wustl.edu 37 5 133707248 133707248 + RNA DEL T T - TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 133707248 133707248 T - DEL UBE2B ENST00000511807 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2B HGNC ENSG00000119048 20 5 20.00 24 0 0.00 UBE2D1 7321 genome.wustl.edu 37 10 60127703 60127703 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 60127703 60127703 C G SNP UBE2D1 ENST00000373910 human ensembl 70_37 +1 known missense c.325 p.L109V 0.994 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D1 HGNC ENSG00000072401 38 5 11.63 91 0 0.00 UBE2D3 7323 genome.wustl.edu 37 4 103747767 103747767 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 103747767 103747767 C G SNP UBE2D3 ENST00000513098 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC ENSG00000109332 56 16 22.22 56 0 0.00 UBE2D3 7323 genome.wustl.edu 37 4 103747823 103747823 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 103747823 103747823 C G SNP UBE2D3 ENST00000513098 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC ENSG00000109332 18 14 43.75 32 0 0.00 UBE2E1 7324 genome.wustl.edu 37 3 23852950 23852950 + Splice_Site SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 23852950 23852950 G A SNP UBE2E1 ENST00000306627 human ensembl 70_37 +1 known splice_site c.153-1 e2-1 1.000 - - - no_errors UBE2E1 HGNC ENSG00000170142 49 68 58.12 100 0 0.00 UBE2E1 7324 genome.wustl.edu 37 3 23930675 23930675 + Missense_Mutation SNP G G C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 23930675 23930675 G C SNP UBE2E1 ENST00000306627 human ensembl 70_37 +1 known missense c.409 p.D137H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC ENSG00000170142 16 7 30.43 32 0 0.00 UBE2H 7328 genome.wustl.edu 37 7 129474842 129474842 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 129474842 129474842 C T SNP UBE2H ENST00000355621 human ensembl 70_37 -1 known missense c.487 p.D163N 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2H HGNC ENSG00000186591 123 28 18.54 108 0 0.00 UBE2H 7328 genome.wustl.edu 37 7 129497387 129497387 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 7 129497387 129497387 G A SNP UBE2H ENST00000355621 human ensembl 70_37 -1 known silent c.262 p.L88 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2H HGNC ENSG00000186591 15 17 53.12 16 0 0.00 UBE2I 7329 genome.wustl.edu 37 16 1358669 1358669 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 1358669 1358669 G T SNP UBE2I ENST00000339021 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2I HGNC ENSG00000103275 0 3 17.65 13 0 0.00 UBE2I 7329 genome.wustl.edu 37 16 1358814 1358814 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1358814 1358814 G A SNP UBE2I ENST00000339021 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2I HGNC ENSG00000103275 9 4 30.77 22 0 0.00 UBE2I 7329 genome.wustl.edu 37 16 1370260 1370260 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 1370260 1370260 G C SNP UBE2I ENST00000325437 human ensembl 70_37 +1 known missense c.309 p.W103C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC ENSG00000103275 22 9 29.03 33 0 0.00 UBE2I 7329 genome.wustl.edu 37 16 1374764 1374764 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 1374764 1374764 A G SNP UBE2I ENST00000325437 human ensembl 70_37 +1 known silent c.447 p.R149 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC ENSG00000103275 36 17 32.08 43 0 0.00 UBE2J2 118424 genome.wustl.edu 37 1 1203290 1203290 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 1203290 1203290 G A SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known missense c.83 p.P28L 0.999 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 23 9 28.12 49 0 0.00 UBE2J2 118424 genome.wustl.edu 37 1 1203298 1203298 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 1203298 1203298 C G SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known missense c.75 p.K25N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 373 108 22.45 541 0 0.00 UBE2J2 118424 genome.wustl.edu 37 1 1203343 1203343 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 1203343 1203343 C T SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known silent c.30 p.P10 0.016 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 432 137 24.08 627 1 0.16 UBE2L6 9246 genome.wustl.edu 37 11 57321968 57321968 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 57321968 57321968 C T SNP UBE2L6 ENST00000287156 human ensembl 70_37 -1 known silent c.252 p.Q84 0.875 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 90 25 21.74 151 0 0.00 UBE2L6 9246 genome.wustl.edu 37 11 57335082 57335082 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57335082 57335082 C G SNP UBE2L6 ENST00000287156 human ensembl 70_37 -1 known missense c.3 p.M1I 0.146 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 40 14 25.45 33 0 0.00 UBE2NL 389898 genome.wustl.edu 37 X 142967284 142967284 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 X 142967284 142967284 G A SNP UBE2NL ENST00000370494 human ensembl 70_37 +1 known missense c.82 p.D28N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 181 50 21.46 208 0 0.00 UBE2O 63893 genome.wustl.edu 37 17 74388179 74388179 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 74388179 74388179 G C SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.2962 p.L988V 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 27 29 51.79 31 0 0.00 UBE2O 63893 genome.wustl.edu 37 17 74392782 74392782 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 74392782 74392782 C T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.2236 p.G746R 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 4 15 78.95 23 0 0.00 UBE2O 63893 genome.wustl.edu 37 17 74394424 74394424 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 74394424 74394424 G T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1937 p.A646D 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 23 17 42.50 34 0 0.00 UBE2O 63893 genome.wustl.edu 37 17 74394636 74394636 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 74394636 74394636 C T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1813 p.G605S 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 20 13 39.39 55 0 0.00 UBE2O 63893 genome.wustl.edu 37 17 74395865 74395865 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 74395865 74395865 G T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1293 p.S431R 0.723 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 31 4 11.43 36 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154523423 154523423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154523423 154523423 C T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.1228 p.E410K 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 80 31 27.93 87 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154524250 154524250 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154524250 154524250 T C SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known silent c.1071 p.K357 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 13 5 27.78 21 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154524838 154524840 + RNA DEL CTC CTC - TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 154524838 154524840 CTC - DEL UBE2Q1 ENST00000474181 human ensembl 70_37 -1 known rna NULL NULL 0.008:0.000:0.000 - - - no_errors UBE2Q1 HGNC ENSG00000160714 78 45 36.59 131 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154524884 154524884 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 154524884 154524884 G T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.871 p.L291I 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 36 4 10.00 22 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154525569 154525569 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154525569 154525569 C T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.668 p.G223E 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 10 19 65.52 39 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154527963 154527963 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154527963 154527963 A C SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.478 p.Y160D 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 23 4 14.29 37 0 0.00 UBE2Q1 55585 genome.wustl.edu 37 1 154527964 154527964 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 154527964 154527964 G A SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known silent c.477 p.L159 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 176 33 15.71 203 0 0.00 UBE2Q2 92912 genome.wustl.edu 37 15 76136055 76136055 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 76136055 76136055 C G SNP UBE2Q2 ENST00000267938 human ensembl 70_37 +1 known missense c.48 p.I16M 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 36 21 36.84 37 0 0.00 UBE2Q2 92912 genome.wustl.edu 37 15 76136660 76136660 + RNA SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 76136660 76136660 T C SNP UBE2Q2 ENST00000562635 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2Q2 HGNC ENSG00000140367 91 58 38.93 102 0 0.00 UBE2QL1 134111 genome.wustl.edu 37 5 6449072 6449072 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 6449072 6449072 G C SNP UBE2QL1 ENST00000399816 human ensembl 70_37 +1 known missense c.66 p.E22D 0.996 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC ENSG00000215218 26 10 27.78 40 0 0.00 UBE2T 29089 genome.wustl.edu 37 1 202302388 202302388 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 202302388 202302388 C T SNP UBE2T ENST00000367274 human ensembl 70_37 -1 known missense c.361 p.D121N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 47 14 22.95 68 0 0.00 UBE2T 29089 genome.wustl.edu 37 1 202302443 202302443 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 202302443 202302443 G A SNP UBE2T ENST00000367274 human ensembl 70_37 -1 known silent c.306 p.L102 0.935 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 34 20 37.04 47 0 0.00 UBE2Z 65264 genome.wustl.edu 37 17 46998528 46998528 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 46998528 46998528 C T SNP UBE2Z ENST00000360943 human ensembl 70_37 +1 known missense c.697 p.H233Y 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Z HGNC ENSG00000159202 20 36 64.29 81 0 0.00 UBE3A 7337 genome.wustl.edu 37 15 25599737 25599737 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 25599737 25599737 C T SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.2227 p.E743K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 56 8 12.50 51 0 0.00 UBE3A 7337 genome.wustl.edu 37 15 25615855 25615855 + Missense_Mutation SNP C C A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 15 25615855 25615855 C A SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.1475 p.G492V 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 13 10 43.48 49 0 0.00 UBE3A 7337 genome.wustl.edu 37 15 25616135 25616135 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 25616135 25616135 C G SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.1195 p.E399Q 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 31 21 40.38 66 0 0.00 UBE3B 89910 genome.wustl.edu 37 12 109947443 109947443 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109947443 109947443 C T SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known silent c.1665 p.F555 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 47 35 42.68 97 0 0.00 UBE3B 89910 genome.wustl.edu 37 12 109947445 109947445 + Missense_Mutation SNP A A T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109947445 109947445 A T SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known missense c.1667 p.K556I 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 45 35 43.75 97 0 0.00 UBE3B 89910 genome.wustl.edu 37 12 109948163 109948163 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 109948163 109948163 G A SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 32 38 54.29 27 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 156976679 156976679 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 156976679 156976679 G A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 128 28 17.95 205 1 0.49 UBE3C 9690 genome.wustl.edu 37 7 157023842 157023842 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 157023842 157023842 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2302 p.D768H 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 64 15 18.99 104 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157023913 157023913 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 157023913 157023913 C T SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2373 p.F791 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 8 13 61.90 30 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157041173 157041173 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 157041173 157041173 G A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2593 p.E865K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 6 26 81.25 74 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157041184 157041184 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 157041184 157041184 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2604 p.K868N 0.033 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 5 22 81.48 74 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157046683 157046683 + Silent SNP T T A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 157046683 157046683 T A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2730 p.P910 0.695 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 61 9 12.86 65 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157046952 157046952 + Silent SNP T T C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 157046952 157046952 T C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2898 p.G966 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 43 6 12.00 45 0 0.00 UBE3C 9690 genome.wustl.edu 37 7 157060420 157060420 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 157060420 157060420 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.3223 p.E1075Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 18 6 25.00 11 0 0.00 UBE3D 90025 genome.wustl.edu 37 6 83732175 83732175 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 83732175 83732175 G C SNP UBE3D ENST00000369747 human ensembl 70_37 -1 known missense c.843 p.I281M 1.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 32 4 11.11 45 0 0.00 UBE3D 90025 genome.wustl.edu 37 6 83759489 83759489 + Nonstop_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 83759489 83759489 C A SNP UBE3D ENST00000430071 human ensembl 70_37 -1 known nonstop c.368 p.*123L 0.000 NULL pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 27 5 15.62 24 0 0.00 UBE3D 90025 genome.wustl.edu 37 6 83767592 83767592 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 83767592 83767592 C G SNP UBE3D ENST00000369747 human ensembl 70_37 -1 known missense c.227 p.G76A 0.975 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 15 14 48.28 58 0 0.00 UBE4A 9354 genome.wustl.edu 37 11 118247314 118247314 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 11 118247314 118247314 C T SNP UBE4A ENST00000431736 human ensembl 70_37 +1 known silent c.1497 p.I499 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 41 37 47.44 144 0 0.00 UBE4A 9354 genome.wustl.edu 37 11 118267042 118267042 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 11 118267042 118267042 C A SNP UBE4A ENST00000431736 human ensembl 70_37 +1 known missense c.3109 p.P1037T 1.000 pfam_Ubox_domain,smart_Ubox_domain pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 36 4 10.00 32 0 0.00 UBE4B 10277 genome.wustl.edu 37 1 10163088 10163088 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10163088 10163088 G A SNP UBE4B ENST00000343090 human ensembl 70_37 +1 known missense c.518 p.R173Q 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 34 12 26.09 54 0 0.00 UBE4B 10277 genome.wustl.edu 37 1 10195164 10195164 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 10195164 10195164 G C SNP UBE4B ENST00000343090 human ensembl 70_37 +1 known missense c.2144 p.R715T 0.952 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 36 14 28.00 51 0 0.00 UBFD1 56061 genome.wustl.edu 37 16 23568536 23568536 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 23568536 23568536 G A SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.145 p.G49R 0.951 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 29 10 25.64 30 0 0.00 UBFD1 56061 genome.wustl.edu 37 16 23568552 23568552 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 23568552 23568552 C G SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.161 p.S54W 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 9 3 25.00 25 0 0.00 UBFD1 56061 genome.wustl.edu 37 16 23568823 23568823 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 23568823 23568823 C G SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known silent c.432 p.L144 0.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 6 4 40.00 14 0 0.00 UBFD1 56061 genome.wustl.edu 37 16 23570965 23570965 + Nonsense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 23570965 23570965 G T SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known nonsense c.1204 p.E402* 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 32 4 11.11 40 0 0.00 UBFD1 56061 genome.wustl.edu 37 16 23573950 23573950 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 23573950 23573950 G A SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.1307 p.R436H 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 23 36 57.14 34 0 0.00 UBL4A 8266 genome.wustl.edu 37 X 153713871 153713871 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 153713871 153713871 G A SNP UBL4A ENST00000477777 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors UBL4A HGNC ENSG00000102178 27 15 35.71 30 0 0.00 UBL4A 8266 genome.wustl.edu 37 X 153713871 153713871 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 153713871 153713871 G A SNP UBL4A ENST00000477777 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors UBL4A HGNC ENSG00000102178 92 33 26.40 129 0 0.00 UBL4B 164153 genome.wustl.edu 37 1 110655268 110655268 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 110655268 110655268 G A SNP UBL4B ENST00000334179 human ensembl 70_37 +1 known missense c.112 p.E38K 0.965 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC ENSG00000186150 49 7 12.50 48 0 0.00 UBL4B 164153 genome.wustl.edu 37 1 110655651 110655651 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 110655651 110655651 G A SNP UBL4B ENST00000334179 human ensembl 70_37 +1 known silent c.495 p.E165 0.002 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC ENSG00000186150 50 27 35.06 71 0 0.00 UBLCP1 134510 genome.wustl.edu 37 5 158705280 158705280 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 158705280 158705280 C T SNP UBLCP1 ENST00000296786 human ensembl 70_37 +1 known missense c.719 p.S240L 0.873 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID pfam_NIF,pfam_Ubiquitin,superfamily_HAD-like_dom,smart_Ubiquitin,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID - no_errors UBLCP1 HGNC ENSG00000164332 34 22 39.29 38 0 0.00 UBN1 29855 genome.wustl.edu 37 16 4910677 4910677 + Silent SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 4910677 4910677 C G SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known silent c.684 p.L228 0.999 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 23 8 25.81 47 0 0.00 UBN1 29855 genome.wustl.edu 37 16 4921180 4921180 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 4921180 4921180 G A SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known silent c.1584 p.K528 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 91 16 14.81 86 0 0.00 UBN1 29855 genome.wustl.edu 37 16 4925053 4925053 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 4925053 4925053 C T SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.013 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 39 56 58.95 44 0 0.00 UBN2 254048 genome.wustl.edu 37 7 138946461 138946461 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138946461 138946461 G C SNP UBN2 ENST00000473989 human ensembl 70_37 +1 known missense c.1369 p.E457Q 0.994 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 58 22 27.50 96 0 0.00 UBOX5 22888 genome.wustl.edu 37 20 3090896 3090896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3090896 3090896 G C SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.1482 p.F494L 1.000 pfscan_Znf_RING pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 74 20 21.05 61 0 0.00 UBOX5 22888 genome.wustl.edu 37 20 3102562 3102562 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 20 3102562 3102562 C T SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known silent c.723 p.E241 0.236 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 23 14 37.84 27 0 0.00 UBOX5 22888 genome.wustl.edu 37 20 3102944 3102944 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 3102944 3102944 G A SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.341 p.A114V 0.063 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 34 14 29.17 46 0 0.00 UBOX5 22888 genome.wustl.edu 37 20 3103193 3103193 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3103193 3103193 G C SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.92 p.S31C 1.000 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 57 12 17.39 38 0 0.00 UBOX5-AS1 100134015 genome.wustl.edu 37 20 3091040 3091040 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3091040 3091040 C T SNP UBOX5-AS1 ENST00000446537 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors UBOX5-AS1 HGNC ENSG00000235958 68 11 13.92 16 0 0.00 UBQLN1 29979 genome.wustl.edu 37 9 86276830 86276830 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 86276830 86276830 G C SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.1642 p.Q548E 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 62 14 18.42 56 0 0.00 UBQLN1 29979 genome.wustl.edu 37 9 86292833 86292833 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 86292833 86292833 G A SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.914 p.S305F 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 31 18 36.73 70 0 0.00 UBQLN1 29979 genome.wustl.edu 37 9 86294834 86294834 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86294834 86294834 G C SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.567 p.I189M 1.000 smart_STI1_HS-bd pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 58 17 22.67 53 0 0.00 UBQLN1 29979 genome.wustl.edu 37 9 86297962 86297962 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 86297962 86297962 G A SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known nonsense c.352 p.Q118* 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 23 9 28.12 52 0 0.00 UBQLN2 29978 genome.wustl.edu 37 X 56590601 56590601 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 56590601 56590601 C T SNP UBQLN2 ENST00000338222 human ensembl 70_37 +1 known missense c.295 p.H99Y 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 40 15 27.27 38 0 0.00 UBQLN3 50613 genome.wustl.edu 37 11 5529679 5529679 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5529679 5529679 G A SNP UBQLN3 ENST00000311659 human ensembl 70_37 -1 known silent c.1110 p.S370 0.066 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 18 13 41.94 26 0 0.00 UBQLN3 50613 genome.wustl.edu 37 11 5529891 5529891 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5529891 5529891 C G SNP UBQLN3 ENST00000311659 human ensembl 70_37 -1 known missense c.898 p.D300H 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 16 17 51.52 32 0 0.00 UBQLN4 56893 genome.wustl.edu 37 1 156020186 156020186 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156020186 156020186 C T SNP UBQLN4 ENST00000368309 human ensembl 70_37 -1 known missense c.637 p.D213N 0.999 smart_STI1_HS-bd pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 369 45 10.87 337 0 0.00 UBQLNL 143630 genome.wustl.edu 37 11 5536549 5536549 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 11 5536549 5536549 G A SNP UBQLNL ENST00000380184 human ensembl 70_37 -1 putative missense c.1123 p.R375W 0.014 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 32 6 15.79 38 0 0.00 UBQLNL 143630 genome.wustl.edu 37 11 5537435 5537435 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 5537435 5537435 G C SNP UBQLNL ENST00000380184 human ensembl 70_37 -1 putative silent c.237 p.L79 0.996 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 32 24 42.86 46 0 0.00 UBR1 197131 genome.wustl.edu 37 15 43270092 43270092 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43270092 43270092 G A SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known silent c.4204 p.L1402 0.991 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 28 12 30.00 31 0 0.00 UBR1 197131 genome.wustl.edu 37 15 43329982 43329982 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 43329982 43329982 G C SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known missense c.2011 p.L671V 0.998 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 11 18 62.07 32 0 0.00 UBR1 197131 genome.wustl.edu 37 15 43330009 43330009 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 43330009 43330009 C T SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known missense c.1984 p.E662K 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 59 8 11.94 34 0 0.00 UBR1 197131 genome.wustl.edu 37 15 43335480 43335480 + Silent SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 43335480 43335480 T C SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known silent c.1782 p.E594 0.975 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 28 4 12.50 58 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42600322 42600322 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42600322 42600322 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.1314 p.M438I 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 35 30 46.15 52 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42600337 42600337 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42600337 42600337 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known silent c.1329 p.K443 0.995 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 32 22 40.74 47 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42626564 42626565 + Splice_Site INS - - A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 42626564 42626565 - A INS UBR2 ENST00000372899 human ensembl 70_37 +1 known splice_site_ins c.3242+2_3242+1 e29+2 1.000:0.490 - - - no_errors UBR2 HGNC ENSG00000024048 27 5 15.62 11 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42646299 42646299 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 42646299 42646299 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.4501 p.G1501S 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 27 15 35.71 66 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42655973 42655973 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 42655973 42655973 G C SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.4873 p.D1625H 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 36 20 35.71 63 0 0.00 UBR2 23304 genome.wustl.edu 37 6 42657395 42657395 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 42657395 42657395 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.5113 p.D1705N 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 44 8 15.38 55 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170728794 170728794 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 170728794 170728794 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known silent c.594 p.V198 0.996 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 40 16 28.57 75 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170783844 170783844 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170783844 170783844 G C SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.2353 p.E785Q 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 32 12 27.27 58 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170863551 170863551 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 170863551 170863551 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.4081 p.P1361S 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 24 20 45.45 48 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170917915 170917915 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 170917915 170917915 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known nonsense c.4981 p.Q1661* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 75 28 27.18 91 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170930076 170930076 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 170930076 170930076 G A SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.5158 p.E1720K 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 114 26 18.57 151 0 0.00 UBR3 130507 genome.wustl.edu 37 2 170930076 170930076 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 170930076 170930076 G C SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.5158 p.E1720Q 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 48 12 20.00 52 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19401254 19401254 + RNA SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 19401254 19401254 G A SNP UBR4 ENST00000459947 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors UBR4 HGNC ENSG00000127481 32 25 43.86 39 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19401341 19401341 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 19401341 19401341 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.15600 p.L5200 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 30 13 30.23 30 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19408294 19408295 + Frame_Shift_Ins INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 19408294 19408295 - C INS UBR4 ENST00000375225 human ensembl 70_37 -1 known frame_shift_ins c.7_6 p.P2fs 0.000:0.000 NULL NULL - no_errors UBR4 HGNC ENSG00000127481 38 7 15.56 51 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19413195 19413195 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 19413195 19413195 C G SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.14665 p.D4889H 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 52 9 14.75 58 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19419826 19419826 + Missense_Mutation SNP G G A TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 19419826 19419826 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.14092 p.H4698Y 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 72 13 15.29 109 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19420536 19420536 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 1 19420536 19420536 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.13844 p.G4615D 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 58 13 18.31 52 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19436940 19436940 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 19436940 19436940 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.11911 p.E3971K 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 10 6 37.50 11 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19437114 19437114 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 19437114 19437114 C T SNP UBR4 ENST00000466969 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UBR4 HGNC ENSG00000127481 8 8 50.00 21 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19439131 19439131 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 19439131 19439131 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.11688 p.L3896 0.998 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 39 7 15.22 57 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19480331 19480331 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 19480331 19480331 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.6561 p.P2187 0.490 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 29 25 46.30 27 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19483350 19483350 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 19483350 19483350 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.5830 p.R1944C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 33 22 40.00 31 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19483350 19483350 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 19483350 19483350 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.5830 p.R1944C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 34 10 22.73 65 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19484358 19484358 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 1 19484358 19484358 G C SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.5711 p.S1904C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 86 29 25.22 127 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19490755 19490755 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 19490755 19490755 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.4692 p.L1564 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 19 18 48.65 29 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19504090 19504090 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 19504090 19504090 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.2502 p.V834 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 49 20 28.99 49 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19513763 19513763 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 19513763 19513763 C G SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.1527 p.L509F 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 45 10 18.18 44 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19524208 19524208 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 19524208 19524208 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.849 p.F283 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 16 4 20.00 26 0 0.00 UBR4 23352 genome.wustl.edu 37 1 19524215 19524215 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 19524215 19524215 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.842 p.S281F 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 15 5 25.00 29 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103269876 103269876 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 103269876 103269876 G T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.8171 p.T2724K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 36 4 10.00 53 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103297358 103297358 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 103297358 103297358 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.5693 p.R1898K 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 26 12 31.58 50 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103299757 103299757 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 103299757 103299757 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.4861 p.E1621K 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 36 10 21.74 37 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103335715 103335715 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 8 103335715 103335715 C G SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1608 p.L536F 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 14 5 26.32 29 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103338802 103338802 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 103338802 103338802 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1571 p.S524L 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 52 9 14.75 52 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103341421 103341421 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 103341421 103341421 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1223 p.S408L 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 38 40 51.28 61 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103358560 103358560 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 103358560 103358560 G C SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.640 p.L214V 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 25 10 28.57 21 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103358595 103358595 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 103358595 103358595 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.605 p.R202K 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 12 9 42.86 25 0 0.00 UBR5 51366 genome.wustl.edu 37 8 103359135 103359135 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 103359135 103359135 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 15 29 65.91 34 0 0.00 UBTD2 92181 genome.wustl.edu 37 5 171639088 171639088 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 171639088 171639088 C G SNP UBTD2 ENST00000393792 human ensembl 70_37 -1 known missense c.451 p.E151Q 0.999 NULL pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 172 39 18.40 223 0 0.00 UBTF 7343 genome.wustl.edu 37 17 42289777 42289777 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 42289777 42289777 G A SNP UBTF ENST00000302904 human ensembl 70_37 -1 known nonsense c.706 p.Q236* 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 25 12 32.43 24 0 0.00 UBTF 7343 genome.wustl.edu 37 17 42292917 42292917 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 42292917 42292917 C A SNP UBTF ENST00000537550 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UBTF HGNC ENSG00000108312 24 6 20.00 33 0 0.00 UBTF 7343 genome.wustl.edu 37 17 42293273 42293273 + Splice_Site SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 42293273 42293273 C T SNP UBTF ENST00000302904 human ensembl 70_37 -1 known splice_site c.318+1 e3+1 1.000 - - - no_errors UBTF HGNC ENSG00000108312 60 30 33.33 104 0 0.00 UBXN1 51035 genome.wustl.edu 37 11 62444225 62444225 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 62444225 62444225 C T SNP UBXN1 ENST00000294119 human ensembl 70_37 -1 known missense c.904 p.G302R 0.032 NULL pfam_UBX,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 81 11 11.96 104 0 0.00 UBXN10 127733 genome.wustl.edu 37 1 20517712 20517712 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 20517712 20517712 G A SNP UBXN10 ENST00000375099 human ensembl 70_37 +1 known missense c.658 p.D220N 0.526 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 34 8 19.05 53 0 0.00 UBXN11 91544 genome.wustl.edu 37 1 26620814 26620814 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 26620814 26620814 G A SNP UBXN11 ENST00000374221 human ensembl 70_37 -1 known silent c.441 p.L147 0.299 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 17 11 39.29 19 0 0.00 UBXN2A 165324 genome.wustl.edu 37 2 24194275 24194275 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24194275 24194275 G A SNP UBXN2A ENST00000309033 human ensembl 70_37 +1 known silent c.171 p.Q57 0.886 superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC ENSG00000173960 33 14 29.79 60 0 0.00 UBXN2A 165324 genome.wustl.edu 37 2 24205898 24205898 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 24205898 24205898 A T SNP UBXN2A ENST00000309033 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC ENSG00000173960 17 48 73.85 88 0 0.00 UBXN2B 137886 genome.wustl.edu 37 8 59345735 59345735 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 8 59345735 59345735 G A SNP UBXN2B ENST00000399598 human ensembl 70_37 +1 known missense c.356 p.G119E 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2B HGNC ENSG00000215114 42 5 10.64 53 0 0.00 UBXN4 23190 genome.wustl.edu 37 2 136499524 136499524 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 136499524 136499524 C T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known missense c.25 p.P9S 1.000 superfamily_Thioredoxin-like_fold pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 14 11 44.00 20 0 0.00 UBXN4 23190 genome.wustl.edu 37 2 136519420 136519420 + Nonsense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 136519420 136519420 C T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known nonsense c.541 p.Q181* 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 59 7 10.61 70 0 0.00 UBXN4 23190 genome.wustl.edu 37 2 136528140 136528140 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 136528140 136528140 G C SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known splice_site c.658-1 e8-1 1.000 - - - no_errors UBXN4 HGNC ENSG00000144224 32 6 15.79 50 0 0.00 UBXN4 23190 genome.wustl.edu 37 2 136528183 136528183 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 136528183 136528183 G T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known nonsense c.700 p.E234* 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 15 6 28.57 20 0 0.00 UBXN4 23190 genome.wustl.edu 37 2 136540402 136540402 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 136540402 136540402 A G SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known missense c.1472 p.D491G 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 22 15 40.54 36 0 0.00 UBXN6 80700 genome.wustl.edu 37 19 4454023 4454023 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 4454023 4454023 C T SNP UBXN6 ENST00000301281 human ensembl 70_37 -1 known missense c.151 p.E51K 1.000 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 80 23 22.12 113 0 0.00 UBXN6 80700 genome.wustl.edu 37 19 4457626 4457626 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4457626 4457626 G C SNP UBXN6 ENST00000301281 human ensembl 70_37 -1 known silent c.69 p.L23 0.999 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 59 11 15.71 64 0 0.00 UBXN7 26043 genome.wustl.edu 37 3 196088738 196088738 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 196088738 196088738 G A SNP UBXN7 ENST00000296328 human ensembl 70_37 -1 known missense c.1285 p.L429F 1.000 pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 61 24 28.24 35 0 0.00 UBXN7-AS1 100874034 genome.wustl.edu 37 3 196159282 196159282 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 196159282 196159282 C G SNP UBXN7-AS1 ENST00000442941 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBXN7-AS1 HGNC ENSG00000225822 7 8 53.33 11 0 0.00 UCHL1 7345 genome.wustl.edu 37 4 41262670 41262670 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 41262670 41262670 A C SNP UCHL1 ENST00000284440 human ensembl 70_37 +1 known missense c.181 p.N61H 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL1 HGNC ENSG00000154277 15 4 21.05 22 0 0.00 UCK1 83549 genome.wustl.edu 37 9 134400277 134400277 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 134400277 134400277 G C SNP UCK1 ENST00000484876 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UCK1 HGNC ENSG00000130717 11 4 26.67 8 0 0.00 UCK1 83549 genome.wustl.edu 37 9 134404408 134404408 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 134404408 134404408 G A SNP UCK1 ENST00000372211 human ensembl 70_37 -1 known nonsense c.541 p.R181* 0.507 pfam_PRK/URK,prints_Uridine_kinase pfam_PRK/URK,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 69 14 16.87 105 0 0.00 UCKL1 54963 genome.wustl.edu 37 20 62572366 62572366 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62572366 62572366 G C SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known missense c.1053 p.I351M 1.000 NULL pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 30 44 59.46 45 0 0.00 UCKL1 54963 genome.wustl.edu 37 20 62572429 62572429 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 62572429 62572429 C T SNP UCKL1 ENST00000358711 human ensembl 70_37 -1 known missense c.1039 p.A347T 0.000 NULL pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 22 4 15.38 38 0 0.00 UCKL1 54963 genome.wustl.edu 37 20 62575995 62575995 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 62575995 62575995 G A SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known silent c.747 p.I249 0.976 pfam_PRK/URK,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 87 15 14.56 80 0 0.00 UCKL1 54963 genome.wustl.edu 37 20 62577046 62577046 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 62577046 62577046 G C SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known missense c.612 p.I204M 0.998 pfam_PRK/URK,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 86 10 10.42 118 0 0.00 UCKL1 54963 genome.wustl.edu 37 20 62577388 62577388 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62577388 62577388 G A SNP UCKL1 ENST00000492660 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UCKL1 HGNC ENSG00000198276 18 6 25.00 29 0 0.00 UCMA 221044 genome.wustl.edu 37 10 13264126 13264126 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 13264126 13264126 G A SNP UCMA ENST00000378681 human ensembl 70_37 -1 known missense c.394 p.L132F 0.997 NULL NULL - no_errors UCMA HGNC ENSG00000165623 71 24 25.26 107 0 0.00 UCMA 221044 genome.wustl.edu 37 10 13275542 13275542 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 13275542 13275542 G C SNP UCMA ENST00000378681 human ensembl 70_37 -1 known silent c.216 p.V72 0.927 NULL NULL - no_errors UCMA HGNC ENSG00000165623 50 21 29.58 89 0 0.00 UCMA 221044 genome.wustl.edu 37 10 13275614 13275614 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 13275614 13275614 G A SNP UCMA ENST00000378681 human ensembl 70_37 -1 known silent c.144 p.F48 1.000 NULL NULL - no_errors UCMA HGNC ENSG00000165623 82 24 22.64 147 1 0.68 UCN3 114131 genome.wustl.edu 37 10 5415995 5415995 + Missense_Mutation SNP G G T TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 10 5415995 5415995 G T SNP UCN3 ENST00000380433 human ensembl 70_37 +1 known missense c.312 p.R104S 0.004 NULL pfam_Urocortin_II/III - no_errors UCN3 HGNC ENSG00000178473 34 4 10.53 21 0 0.00 UCP1 7350 genome.wustl.edu 37 4 141484349 141484349 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 141484349 141484349 C G SNP UCP1 ENST00000262999 human ensembl 70_37 -1 known silent c.543 p.L181 0.961 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 25 44 63.77 48 0 0.00 UCP2 7351 genome.wustl.edu 37 11 73689365 73689365 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 73689365 73689365 G T SNP UCP2 ENST00000310473 human ensembl 70_37 -1 known missense c.59 p.A20D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP2 HGNC ENSG00000175567 43 5 10.42 28 0 0.00 UEVLD 55293 genome.wustl.edu 37 11 18558012 18558012 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 18558012 18558012 G C SNP UEVLD ENST00000396197 human ensembl 70_37 -1 known silent c.1065 p.L355 0.053 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 26 12 31.58 33 0 0.00 UEVLD 55293 genome.wustl.edu 37 11 18587959 18587959 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 11 18587959 18587959 G A SNP UEVLD ENST00000396197 human ensembl 70_37 -1 known missense c.428 p.S143F 0.996 superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 27 6 18.18 45 0 0.00 UFC1 51506 genome.wustl.edu 37 1 161128205 161128205 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 161128205 161128205 G A SNP UFC1 ENST00000368003 human ensembl 70_37 +1 known missense c.427 p.G143S 1.000 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 - no_errors UFC1 HGNC ENSG00000143222 101 63 37.95 163 0 0.00 UFD1L 7353 genome.wustl.edu 37 22 19442308 19442308 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 19442308 19442308 G A SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known silent c.813 p.I271 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 24 17 41.46 38 0 0.00 UFD1L 7353 genome.wustl.edu 37 22 19452740 19452740 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 19452740 19452740 G C SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.480 p.I160M 1.000 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 27 31 53.45 66 0 0.00 UFD1L 7353 genome.wustl.edu 37 22 19459236 19459236 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 19459236 19459236 C T SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.265 p.E89K 1.000 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 21 9 30.00 22 0 0.00 UFD1L 7353 genome.wustl.edu 37 22 19463100 19463100 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19463100 19463100 G C SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.29 p.P10R 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 36 17 32.08 43 0 0.00 UFL1 23376 genome.wustl.edu 37 6 96971061 96971061 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 96971061 96971061 G A SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known silent c.117 p.L39 1.000 pfam_E3_UFM1_ligase_1 pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 114 25 17.99 130 0 0.00 UFL1 23376 genome.wustl.edu 37 6 96988513 96988513 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 96988513 96988513 C T SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known nonsense c.1261 p.R421* 0.997 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 22 7 24.14 28 0 0.00 UFL1 23376 genome.wustl.edu 37 6 96996144 96996144 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 96996144 96996144 G C SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known missense c.1507 p.E503Q 0.997 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 84 23 21.50 164 0 0.00 UFSP1 402682 genome.wustl.edu 37 7 100486556 100486556 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 100486556 100486556 G T SNP UFSP1 ENST00000388761 human ensembl 70_37 -1 known missense c.337 p.Q113K 0.138 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP1 HGNC ENSG00000176125 33 4 10.81 39 0 0.00 UFSP2 55325 genome.wustl.edu 37 4 186339923 186339923 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186339923 186339923 T G SNP UFSP2 ENST00000264689 human ensembl 70_37 -1 known missense c.84 p.E28D 0.555 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 12 11 47.83 22 0 0.00 UGCG 7357 genome.wustl.edu 37 9 114676973 114676973 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 114676973 114676973 G T SNP UGCG ENST00000374279 human ensembl 70_37 +1 known missense c.187 p.D63Y 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 16 6 27.27 54 0 0.00 UGCG 7357 genome.wustl.edu 37 9 114688771 114688771 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 114688771 114688771 G C SNP UGCG ENST00000374279 human ensembl 70_37 +1 known missense c.553 p.E185Q 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 25 7 21.88 38 0 0.00 UGDH 7358 genome.wustl.edu 37 4 39507311 39507311 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 39507311 39507311 G A SNP UGDH ENST00000316423 human ensembl 70_37 -1 known silent c.964 p.L322 1.000 superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_Nucleotide_sugar_DH pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Nucleotide_sugar_DH - no_errors UGDH HGNC ENSG00000109814 137 47 25.54 226 0 0.00 UGGT1 56886 genome.wustl.edu 37 2 128903520 128903520 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 128903520 128903520 C T SNP UGGT1 ENST00000259253 human ensembl 70_37 +1 known silent c.1995 p.F665 0.997 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 24 4 14.29 43 0 0.00 UGGT1 56886 genome.wustl.edu 37 2 128917157 128917157 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 128917157 128917157 C G SNP UGGT1 ENST00000259253 human ensembl 70_37 +1 known missense c.2425 p.Q809E 0.202 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 9 8 47.06 12 0 0.00 UGGT2 55757 genome.wustl.edu 37 13 96485211 96485211 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 96485211 96485211 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.4498 p.D1500H 0.814 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 40 8 16.67 29 0 0.00 UGGT2 55757 genome.wustl.edu 37 13 96485250 96485250 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 96485250 96485250 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.4459 p.E1487Q 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 36 9 20.00 28 0 0.00 UGGT2 55757 genome.wustl.edu 37 13 96506724 96506724 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 96506724 96506724 C T SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known silent c.4014 p.V1338 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 30 10 25.00 45 0 0.00 UGGT2 55757 genome.wustl.edu 37 13 96508441 96508441 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 13 96508441 96508441 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.3979 p.D1327H 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 27 7 20.59 28 0 0.00 UGGT2 55757 genome.wustl.edu 37 13 96508474 96508474 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 96508474 96508474 G T SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.3946 p.L1316I 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 8 3 27.27 27 0 0.00 UGP2 7360 genome.wustl.edu 37 2 64069277 64069278 + RNA INS - - A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 64069277 64069278 - A INS UGP2 ENST00000484056 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.271 - - - no_errors UGP2 HGNC ENSG00000169764 34 4 10.53 18 0 0.00 UGP2 7360 genome.wustl.edu 37 2 64117251 64117251 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64117251 64117251 G C SNP UGP2 ENST00000337130 human ensembl 70_37 +1 known missense c.1351 p.D451H 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 17 3 15.00 13 0 0.00 UGP2 7360 genome.wustl.edu 37 2 64117260 64117260 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64117260 64117260 G C SNP UGP2 ENST00000337130 human ensembl 70_37 +1 known missense c.1360 p.E454Q 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 18 5 21.74 11 0 0.00 UGT1A1 54658 genome.wustl.edu 37 2 234669139 234669139 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 234669139 234669139 G A SNP UGT1A1 ENST00000305208 human ensembl 70_37 +1 known missense c.206 p.R69K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 11 8 42.11 23 0 0.00 UGT1A1 54658 genome.wustl.edu 37 2 234669586 234669586 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 234669586 234669586 C T SNP UGT1A1 ENST00000305208 human ensembl 70_37 +1 known missense c.653 p.S218L 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 24 33 57.89 92 0 0.00 UGT1A10 54575 genome.wustl.edu 37 2 234545342 234545342 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 234545342 234545342 C T SNP UGT1A10 ENST00000344644 human ensembl 70_37 +1 known silent c.174 p.V58 0.007 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 101 55 35.26 107 0 0.00 UGT1A4 54657 genome.wustl.edu 37 2 234628184 234628184 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 234628184 234628184 C G SNP UGT1A4 ENST00000373409 human ensembl 70_37 +1 known missense c.718 p.Q240E 0.695 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 244 40 14.04 369 1 0.27 UGT1A5 54579 genome.wustl.edu 37 2 234622208 234622208 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 234622208 234622208 T C SNP UGT1A5 ENST00000373414 human ensembl 70_37 +1 known missense c.571 p.S191P 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 58 29 33.33 172 0 0.00 UGT1A6 54578 genome.wustl.edu 37 2 234601815 234601815 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234601815 234601815 G A SNP UGT1A6 ENST00000305139 human ensembl 70_37 +1 known silent c.165 p.E55 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 80 21 20.79 70 0 0.00 UGT1A6 54578 genome.wustl.edu 37 2 234602059 234602059 + Missense_Mutation SNP A A T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 234602059 234602059 A T SNP UGT1A6 ENST00000305139 human ensembl 70_37 +1 known missense c.409 p.N137Y 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 34 24 41.38 66 0 0.00 UGT1A7 54577 genome.wustl.edu 37 2 234590793 234590793 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 234590793 234590793 G A SNP UGT1A7 ENST00000373426 human ensembl 70_37 +1 known silent c.210 p.L70 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 12 32 72.73 59 0 0.00 UGT1A7 54577 genome.wustl.edu 37 2 234590905 234590905 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 234590905 234590905 C T SNP UGT1A7 ENST00000373426 human ensembl 70_37 +1 known silent c.322 p.L108 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 24 3 11.11 58 0 0.00 UGT1A9 54600 genome.wustl.edu 37 2 234581228 234581228 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234581228 234581228 A G SNP UGT1A9 ENST00000354728 human ensembl 70_37 +1 known silent c.648 p.E216 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 47 10 17.24 97 0 0.00 UGT2A1 10941 genome.wustl.edu 37 4 70460216 70460216 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 70460216 70460216 C T SNP UGT2A1 ENST00000457664 human ensembl 70_37 -1 known missense c.1310 p.R437K 0.870 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 68 12 15.00 68 0 0.00 UGT2A1 10941 genome.wustl.edu 37 4 70465090 70465090 + Missense_Mutation SNP C C G TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 4 70465090 70465090 C G SNP UGT2A1 ENST00000457664 human ensembl 70_37 -1 known missense c.765 p.E255D 0.233 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 24 9 27.27 45 0 0.00 UGT2A3 79799 genome.wustl.edu 37 4 69796884 69796884 + Missense_Mutation SNP T T G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 69796884 69796884 T G SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.1073 p.N358T 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 4 3 42.86 87 0 0.00 UGT2A3 79799 genome.wustl.edu 37 4 69816797 69816797 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 69816797 69816797 G A SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.682 p.H228Y 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 30 10 25.00 46 0 0.00 UGT2A3 79799 genome.wustl.edu 37 4 69817035 69817035 + Missense_Mutation SNP T T C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 69817035 69817035 T C SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.444 p.I148M 0.022 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 14 2 12.50 130 0 0.00 UGT2B10 7365 genome.wustl.edu 37 4 69692182 69692182 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 69692182 69692182 C A SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1054 p.L352M 0.014 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 73 12 14.12 206 0 0.00 UGT2B10 7365 genome.wustl.edu 37 4 69692191 69692191 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 69692191 69692191 T C SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1063 p.W355R 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 231 46 16.61 236 0 0.00 UGT2B10 7365 genome.wustl.edu 37 4 69692206 69692206 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 69692206 69692206 G A SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1078 p.D360N 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 118 44 27.16 177 0 0.00 UGT2B11 10720 genome.wustl.edu 37 4 70074191 70074191 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 70074191 70074191 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 105 65 38.01 156 0 0.00 UGT2B11 10720 genome.wustl.edu 37 4 70079880 70079880 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 70079880 70079880 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known silent c.561 p.L187 0.544 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 61 42 40.78 154 1 0.65 UGT2B11 10720 genome.wustl.edu 37 4 70080030 70080030 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 70080030 70080030 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known missense c.411 p.M137I 0.393 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 36 18 33.33 81 0 0.00 UGT2B11 10720 genome.wustl.edu 37 4 70080248 70080248 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 70080248 70080248 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known missense c.193 p.D65N 0.270 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 41 15 26.79 94 0 0.00 UGT2B15 7366 genome.wustl.edu 37 4 69513036 69513036 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 69513036 69513036 C T SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1379 p.R460Q 0.831 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 100 51 33.55 238 0 0.00 UGT2B15 7366 genome.wustl.edu 37 4 69519864 69519864 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 69519864 69519864 C T SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1204 p.D402N 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 109 38 25.85 150 0 0.00 UGT2B15 7366 genome.wustl.edu 37 4 69519921 69519921 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 69519921 69519921 C G SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1147 p.E383Q 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 104 25 19.08 131 0 0.00 UGT2B15 7366 genome.wustl.edu 37 4 69528803 69528803 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 69528803 69528803 G C SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.928 p.L310V 0.966 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 140 41 22.65 202 0 0.00 UGT2B15 7366 genome.wustl.edu 37 4 69535736 69535736 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 69535736 69535736 C G SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 70 28 28.57 104 0 0.00 UGT2B17 7367 genome.wustl.edu 37 4 69426371 69426371 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 69426371 69426371 C T SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.889 p.V297M 0.998 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 14 15 51.72 33 0 0.00 UGT2B17 7367 genome.wustl.edu 37 4 69433510 69433510 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 69433510 69433510 C G SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.693 p.K231N 0.912 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 89 19 17.59 90 0 0.00 UGT2B17 7367 genome.wustl.edu 37 4 69433770 69433770 + Missense_Mutation SNP T T C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 69433770 69433770 T C SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.433 p.K145E 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 51 14 21.54 51 0 0.00 UGT2B28 54490 genome.wustl.edu 37 4 70160416 70160416 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 70160416 70160416 G C SNP UGT2B28 ENST00000335568 human ensembl 70_37 +1 known silent c.1479 p.V493 0.998 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 37 11 22.92 150 0 0.00 UGT2B4 7363 genome.wustl.edu 37 4 70361486 70361486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 70361486 70361486 C A SNP UGT2B4 ENST00000305107 human ensembl 70_37 -1 known nonsense c.94 p.E32* 0.057 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 48 18 27.27 116 0 0.00 UGT2B7 7364 genome.wustl.edu 37 4 69962710 69962710 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 69962710 69962710 G A SNP UGT2B7 ENST00000305231 human ensembl 70_37 +1 known missense c.472 p.E158K 0.997 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 39 37 48.68 139 0 0.00 UGT3A1 133688 genome.wustl.edu 37 5 35988572 35988572 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35988572 35988572 C T SNP UGT3A1 ENST00000274278 human ensembl 70_37 -1 known missense c.176 p.S59N 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 32 8 20.00 31 0 0.00 UGT3A2 167127 genome.wustl.edu 37 5 36038116 36038116 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 36038116 36038116 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.1078 p.H360Y 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 57 43 43.00 97 0 0.00 UGT3A2 167127 genome.wustl.edu 37 5 36039690 36039690 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 36039690 36039690 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.964 p.H322Y 0.012 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 25 13 34.21 79 0 0.00 UGT3A2 167127 genome.wustl.edu 37 5 36066870 36066870 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 36066870 36066870 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.22 p.L8F 0.560 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 29 26 47.27 52 0 0.00 UGT8 7368 genome.wustl.edu 37 4 115544657 115544657 + Silent SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 115544657 115544657 C A SNP UGT8 ENST00000310836 human ensembl 70_37 +1 known silent c.621 p.V207 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 43 17 28.33 64 0 0.00 UGT8 7368 genome.wustl.edu 37 4 115589440 115589440 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 115589440 115589440 G T SNP UGT8 ENST00000310836 human ensembl 70_37 +1 known silent c.1242 p.V414 0.518 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 38 11 22.45 30 0 0.00 UHMK1 127933 genome.wustl.edu 37 1 162467847 162467847 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 162467847 162467847 C T SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known silent c.57 p.F19 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC ENSG00000152332 2 8 80.00 11 0 0.00 UHMK1 127933 genome.wustl.edu 37 1 162469921 162469921 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 162469921 162469921 C T SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known missense c.445 p.L149F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC ENSG00000152332 64 16 19.75 109 0 0.00 UHMK1 127933 genome.wustl.edu 37 1 162469974 162469974 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 162469974 162469974 G A SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known nonsense c.498 p.W166* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC ENSG00000152332 58 44 43.14 124 0 0.00 UHMK1 127933 genome.wustl.edu 37 1 162493066 162493066 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 162493066 162493066 G C SNP UHMK1 ENST00000282169 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors UHMK1 HGNC ENSG00000152332 73 10 11.90 65 0 0.00 UHMK1 127933 genome.wustl.edu 37 1 162493117 162493117 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 162493117 162493117 G C SNP UHMK1 ENST00000282169 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors UHMK1 HGNC ENSG00000152332 55 26 32.10 69 0 0.00 UHRF1 29128 genome.wustl.edu 37 19 4929293 4929293 + RNA SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 4929293 4929293 C A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 0.968 - - - no_errors UHRF1 HGNC ENSG00000034063 34 9 20.93 61 0 0.00 UHRF1 29128 genome.wustl.edu 37 19 4945950 4945950 + RNA SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 4945950 4945950 C A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 0.545 - - - no_errors UHRF1 HGNC ENSG00000034063 34 36 51.43 69 0 0.00 UHRF1 29128 genome.wustl.edu 37 19 4950940 4950940 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 4950940 4950940 G A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 63 8 11.27 48 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34791077 34791077 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34791077 34791077 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.290 p.P97L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 81 50 37.59 92 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34801995 34801995 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 34801995 34801995 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 12 15 55.56 42 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34802138 34802138 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 34802138 34802138 G C SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.483 p.Q161H 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 4 34 89.47 18 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34802148 34802148 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 34802148 34802148 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.493 p.R165C 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 32 4 11.11 38 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34826295 34826295 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 34826295 34826295 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.2162 p.P721L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 22 4 15.38 36 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34826826 34826826 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34826826 34826826 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.2693 p.S898L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 62 37 37.37 86 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34827265 34827265 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 34827265 34827265 G T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3132 p.V1044 0.997 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 28 4 12.50 68 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34827294 34827294 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 34827294 34827294 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3161 p.G1054D 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 83 64 43.24 67 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34831951 34831951 + Missense_Mutation SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 34831951 34831951 A T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3388 p.S1130C 0.307 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 116 22 15.94 111 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34835034 34835034 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 34835034 34835034 C G SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3445 p.L1149V 0.414 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 27 29 51.79 57 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34835144 34835144 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 34835144 34835144 C G SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3555 p.L1185 0.521 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 52 27 34.18 68 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34835377 34835377 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 34835377 34835377 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3702 p.L1234 0.997 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 9 8 47.06 27 0 0.00 UHRF1BP1 54887 genome.wustl.edu 37 6 34840174 34840174 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 34840174 34840174 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.4282 p.L1428F 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 60 10 14.08 47 0 0.00 UHRF1BP1L 23074 genome.wustl.edu 37 12 100441743 100441743 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100441743 100441743 G C SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.3950 p.S1317C 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 10 7 41.18 32 0 0.00 UHRF1BP1L 23074 genome.wustl.edu 37 12 100451410 100451410 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100451410 100451410 C T SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.3363 p.M1121I 0.998 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 47 16 25.40 47 0 0.00 UHRF1BP1L 23074 genome.wustl.edu 37 12 100452656 100452656 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 100452656 100452656 G A SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.2399 p.S800L 0.026 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 114 29 20.28 167 0 0.00 UHRF1BP1L 23074 genome.wustl.edu 37 12 100452951 100452951 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 100452951 100452951 A G SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.2104 p.W702R 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 106 16 13.11 144 0 0.00 UHRF1BP1L 23074 genome.wustl.edu 37 12 100482793 100482793 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100482793 100482793 C T SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known silent c.921 p.V307 0.989 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 14 7 33.33 44 0 0.00 UHRF2 115426 genome.wustl.edu 37 9 6421009 6421009 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 6421009 6421009 C G SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.251 p.S84C 1.000 NULL pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 135 32 19.16 198 0 0.00 UHRF2 115426 genome.wustl.edu 37 9 6434113 6434113 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 6434113 6434113 C T SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.584 p.T195M 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 52 33 38.82 96 0 0.00 UHRF2 115426 genome.wustl.edu 37 9 6434148 6434148 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 6434148 6434148 G A SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.619 p.V207I 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 37 35 47.95 94 0 0.00 UHRF2 115426 genome.wustl.edu 37 9 6497316 6497316 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 6497316 6497316 A G SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.1723 p.K575E 1.000 pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 23 7 23.33 38 0 0.00 UHRF2 115426 genome.wustl.edu 37 9 6499822 6499822 + RNA DEL C C - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 6499822 6499822 C - DEL UHRF2 ENST00000492853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF2 HGNC ENSG00000147854 46 6 11.54 57 0 0.00 UIMC1 51720 genome.wustl.edu 37 5 176395779 176395779 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 176395779 176395779 G C SNP UIMC1 ENST00000377219 human ensembl 70_37 -1 known missense c.977 p.P326R 0.998 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 33 27 45.00 45 0 0.00 ULBP1 80329 genome.wustl.edu 37 6 150290300 150290300 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 150290300 150290300 C T SNP ULBP1 ENST00000229708 human ensembl 70_37 +1 known silent c.429 p.F143 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 56 36 39.13 41 0 0.00 ULBP1 80329 genome.wustl.edu 37 6 150290316 150290316 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 150290316 150290316 C G SNP ULBP1 ENST00000229708 human ensembl 70_37 +1 known missense c.445 p.L149V 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 55 11 16.67 59 0 0.00 ULBP2 80328 genome.wustl.edu 37 6 150266620 150266620 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150266620 150266620 G C SNP ULBP2 ENST00000367351 human ensembl 70_37 +1 known missense c.261 p.W87C 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP2 HGNC ENSG00000131015 269 56 17.13 329 0 0.00 ULBP3 79465 genome.wustl.edu 37 6 150386782 150386782 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 150386782 150386782 G C SNP ULBP3 ENST00000367339 human ensembl 70_37 -1 known missense c.380 p.S127C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP3 HGNC ENSG00000131019 67 62 48.06 95 0 0.00 ULK1 8408 genome.wustl.edu 37 12 132393320 132393320 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 12 132393320 132393320 G A SNP ULK1 ENST00000321867 human ensembl 70_37 +1 known missense c.448 p.A150T 0.005 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 19 4 16.00 27 0 0.00 ULK1 8408 genome.wustl.edu 37 12 132399633 132399633 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 132399633 132399633 C G SNP ULK1 ENST00000321867 human ensembl 70_37 +1 known missense c.1379 p.S460C 0.214 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 63 37 37.00 91 0 0.00 ULK2 9706 genome.wustl.edu 37 17 19680994 19680994 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19680994 19680994 C T SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known silent c.2952 p.Q984 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 42 12 22.22 32 0 0.00 ULK2 9706 genome.wustl.edu 37 17 19685287 19685287 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 19685287 19685287 C G SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known missense c.2554 p.E852Q 0.998 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 82 13 13.68 90 0 0.00 ULK2 9706 genome.wustl.edu 37 17 19699456 19699456 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19699456 19699456 C T SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known missense c.1949 p.G650E 0.959 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 61 13 17.57 41 0 0.00 ULK2 9706 genome.wustl.edu 37 17 19746514 19746514 + Nonsense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 19746514 19746514 G A SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known nonsense c.565 p.Q189* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 108 75 40.98 165 0 0.00 ULK4 54986 genome.wustl.edu 37 3 41291022 41291022 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 3 41291022 41291022 C T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3722 p.G1241D 0.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 11 4 26.67 37 0 0.00 ULK4 54986 genome.wustl.edu 37 3 41439743 41439743 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 41439743 41439743 C G SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3505 p.D1169H 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 50 9 15.25 46 0 0.00 ULK4 54986 genome.wustl.edu 37 3 41504718 41504718 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 3 41504718 41504718 G C SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3253 p.L1085V 0.993 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 20 6 23.08 24 0 0.00 ULK4 54986 genome.wustl.edu 37 3 41723000 41723000 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 41723000 41723000 G T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.2977 p.Q993K 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 31 4 11.43 42 0 0.00 ULK4 54986 genome.wustl.edu 37 3 41996205 41996205 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 41996205 41996205 G T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.47 p.T16N 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 36 4 10.00 45 0 0.00 ULK4P2 100288380 genome.wustl.edu 37 15 30865020 30865020 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 30865020 30865020 G C SNP ULK4P2 ENST00000561753 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors ULK4P2 HGNC ENSG00000260128 4 7 63.64 25 0 0.00 ULK4P2 100288380 genome.wustl.edu 37 15 30888946 30888946 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30888946 30888946 T A SNP ULK4P2 ENST00000566793 human ensembl 70_37 +1 putative rna NULL NULL 0.164 - - - no_errors ULK4P2 HGNC ENSG00000260128 104 17 14.05 148 0 0.00 ULK4P2 100288380 genome.wustl.edu 37 15 30888946 30888946 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 30888946 30888946 T A SNP ULK4P2 ENST00000566793 human ensembl 70_37 +1 putative rna NULL NULL 0.164 - - - no_errors ULK4P2 HGNC ENSG00000260128 56 13 18.84 79 0 0.00 ULK4P3 89837 genome.wustl.edu 37 15 30396069 30396069 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 30396069 30396069 G T SNP ULK4P3 ENST00000565158 human ensembl 70_37 +1 putative rna NULL NULL 0.039 - - - no_errors ULK4P3 HGNC ENSG00000178081 218 54 19.85 251 0 0.00 UMOD 7369 genome.wustl.edu 37 16 20348020 20348020 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 20348020 20348020 C T SNP UMOD ENST00000424589 human ensembl 70_37 -1 known silent c.1869 p.G623 0.037 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 47 6 11.32 88 0 0.00 UMOD 7369 genome.wustl.edu 37 16 20355366 20355366 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 20355366 20355366 G A SNP UMOD ENST00000424589 human ensembl 70_37 -1 known silent c.1410 p.T470 0.806 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 81 12 12.90 44 0 0.00 UMODL1 89766 genome.wustl.edu 37 21 43504341 43504341 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 43504341 43504341 C A SNP UMODL1 ENST00000408989 human ensembl 70_37 +1 known missense c.467 p.A156D 0.042 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 26 10 27.78 37 0 0.00 UMODL1 89766 genome.wustl.edu 37 21 43524176 43524176 + Missense_Mutation SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 21 43524176 43524176 C T SNP UMODL1 ENST00000408989 human ensembl 70_37 +1 known missense c.1498 p.R500W 0.757 NULL pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 41 22 34.38 66 0 0.00 UMODL1 89766 genome.wustl.edu 37 21 43531075 43531075 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43531075 43531075 C T SNP UMODL1 ENST00000408989 human ensembl 70_37 +1 known silent c.1743 p.L581 0.000 NULL pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 23 4 14.81 39 0 0.00 UMPS 7372 genome.wustl.edu 37 3 124461011 124461011 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 124461011 124461011 G A SNP UMPS ENST00000232607 human ensembl 70_37 +1 known missense c.1171 p.E391K 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 271 53 16.31 276 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17716873 17716873 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 17716873 17716873 G T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.5366 p.P1789H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 25 3 10.71 15 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17716962 17716962 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17716962 17716962 G C SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.5277 p.I1759M 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 47 11 18.97 38 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17738365 17738365 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17738365 17738365 C T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.4137 p.V1379 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 12 8 40.00 24 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17751455 17751455 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17751455 17751455 G A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.2916 p.L972 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 41 19 31.67 87 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17756547 17756547 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 17756547 17756547 G A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.2556 p.F852 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 25 9 26.47 51 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17759739 17759739 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 17759739 17759739 C T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.1842 p.T614 0.273 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 38 6 13.64 65 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17767092 17767092 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 17767092 17767092 C G SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.1147 p.E383Q 0.996 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 8 7 46.67 30 0 0.00 UNC13A 23025 genome.wustl.edu 37 19 17768894 17768894 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 17768894 17768894 C A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.1008 p.E336D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 29 4 12.12 31 0 0.00 UNC13B 10497 genome.wustl.edu 37 9 35291080 35291080 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35291080 35291080 T G SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.541 p.L181V 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 47 39 45.35 89 0 0.00 UNC13B 10497 genome.wustl.edu 37 9 35310582 35310582 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 35310582 35310582 C T SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.916 p.H306Y 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 63 27 29.67 40 0 0.00 UNC13B 10497 genome.wustl.edu 37 9 35313966 35313966 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 35313966 35313966 G C SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.1183 p.V395L 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 83 17 17.00 75 0 0.00 UNC13B 10497 genome.wustl.edu 37 9 35377653 35377653 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 35377653 35377653 G C SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.1813 p.D605H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 18 4 18.18 22 0 0.00 UNC13B 10497 genome.wustl.edu 37 9 35403968 35403968 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 35403968 35403968 G A SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.4807 p.E1603K 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 38 19 33.33 52 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54307226 54307226 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 54307226 54307226 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.2126 p.S709L 0.996 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 10 6 37.50 14 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54307319 54307319 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 54307319 54307319 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.2219 p.S740F 0.985 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 22 7 24.14 23 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54542589 54542589 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 15 54542589 54542589 G A SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.3395 p.G1132E 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 54 19 26.03 75 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54630687 54630687 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 54630687 54630687 G A SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known silent c.4713 p.P1571 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 46 25 35.21 44 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54817750 54817750 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 54817750 54817750 G C SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.5461 p.D1821H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 36 4 10.00 42 0 0.00 UNC13C 440279 genome.wustl.edu 37 15 54838927 54838927 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 54838927 54838927 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.5704 p.L1902F 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 10 8 44.44 43 0 0.00 UNC13D 201294 genome.wustl.edu 37 17 73824970 73824970 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 73824970 73824970 C T SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known missense c.3049 p.E1017K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 2 13 81.25 22 0 0.00 UNC13D 201294 genome.wustl.edu 37 17 73831078 73831078 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 73831078 73831078 G A SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known nonsense c.1915 p.Q639* 1.000 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 12 3 20.00 36 0 0.00 UNC13D 201294 genome.wustl.edu 37 17 73838662 73838662 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 73838662 73838662 C G SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known missense c.421 p.E141Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 44 10 18.52 64 0 0.00 UNC13D 201294 genome.wustl.edu 37 17 73838975 73838975 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 73838975 73838975 C T SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known silent c.351 p.V117 0.994 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 225 115 33.82 410 0 0.00 UNC45A 55898 genome.wustl.edu 37 15 91479682 91479682 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 91479682 91479682 C T SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known nonsense c.418 p.Q140* 1.000 NULL pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 33 12 26.67 63 0 0.00 UNC45A 55898 genome.wustl.edu 37 15 91483039 91483039 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91483039 91483039 G A SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known missense c.505 p.E169K 0.998 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 61 37 37.76 76 0 0.00 UNC45A 55898 genome.wustl.edu 37 15 91488276 91488276 + Silent SNP T T C TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 15 91488276 91488276 T C SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known silent c.1182 p.L394 0.994 pfam_UNC-45/Ring3 pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 69 37 34.91 94 0 0.00 UNC45A 55898 genome.wustl.edu 37 15 91496406 91496406 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 91496406 91496406 C T SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known nonsense c.2443 p.Q815* 0.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 40 19 32.20 32 0 0.00 UNC45B 146862 genome.wustl.edu 37 17 33476026 33476026 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 33476026 33476026 G C SNP UNC45B ENST00000268876 human ensembl 70_37 +1 known missense c.203 p.R68T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 43 18 29.51 60 0 0.00 UNC45B 146862 genome.wustl.edu 37 17 33496889 33496889 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 33496889 33496889 G T SNP UNC45B ENST00000268876 human ensembl 70_37 +1 known missense c.1486 p.D496Y 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 18 4 17.39 25 0 0.00 UNC50 25972 genome.wustl.edu 37 2 99226302 99226302 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 99226302 99226302 C T SNP UNC50 ENST00000409347 human ensembl 70_37 +1 known missense c.131 p.A44V 1.000 NULL pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 36 4 10.00 32 0 0.00 UNC5A 90249 genome.wustl.edu 37 5 176292672 176292672 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 176292672 176292672 C T SNP UNC5A ENST00000261961 human ensembl 70_37 +1 known missense c.122 p.T41M 0.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5A HGNC ENSG00000113763 21 19 47.50 31 0 0.00 UNC5A 90249 genome.wustl.edu 37 5 176301441 176301441 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 176301441 176301441 G A SNP UNC5A ENST00000329542 human ensembl 70_37 +1 known missense c.1252 p.E418K 1.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5A HGNC ENSG00000113763 26 21 44.68 39 0 0.00 UNC5C 8633 genome.wustl.edu 37 4 96104152 96104152 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 96104152 96104152 G A SNP UNC5C ENST00000453304 human ensembl 70_37 -1 known silent c.2347 p.L783 0.993 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5C HGNC ENSG00000182168 48 7 12.73 51 0 0.00 UNC5CL 222643 genome.wustl.edu 37 6 40996165 40996165 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 6 40996165 40996165 C T SNP UNC5CL ENST00000244565 human ensembl 70_37 -1 known missense c.1504 p.E502K 0.000 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 25 10 28.57 24 0 0.00 UNC5CL 222643 genome.wustl.edu 37 6 41000851 41000851 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41000851 41000851 G A SNP UNC5CL ENST00000244565 human ensembl 70_37 -1 known missense c.721 p.R241C 0.028 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 15 19 55.88 57 0 0.00 UNC5CL 222643 genome.wustl.edu 37 6 41002620 41002620 + Nonsense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 41002620 41002620 G C SNP UNC5CL ENST00000244565 human ensembl 70_37 -1 known nonsense c.194 p.S65* 0.003 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 98 27 21.60 178 0 0.00 UNC5D 137970 genome.wustl.edu 37 8 35542112 35542112 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 35542112 35542112 G T SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.764 p.W255L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 13 23 63.89 29 0 0.00 UNC5D 137970 genome.wustl.edu 37 8 35542126 35542126 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 35542126 35542126 G C SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.778 p.E260Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 24 14 36.84 36 0 0.00 UNC5D 137970 genome.wustl.edu 37 8 35542222 35542222 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 35542222 35542222 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.874 p.E292K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 26 11 29.73 61 0 0.00 UNC5D 137970 genome.wustl.edu 37 8 35608103 35608103 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 35608103 35608103 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.1939 p.V647M 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 55 43 43.88 106 1 0.93 UNC5D 137970 genome.wustl.edu 37 8 35624428 35624428 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 35624428 35624428 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known silent c.2322 p.P774 0.009 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 26 20 43.48 27 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94004472 94004472 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 94004472 94004472 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.1260 p.A420 0.073 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 30 6 16.67 33 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94008991 94008991 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 14 94008991 94008991 C T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.1704 p.R568 0.999 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 39 13 25.00 37 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94038402 94038402 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 94038402 94038402 C T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known nonsense c.1918 p.Q640* 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 44 15 25.42 90 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94066945 94066945 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 94066945 94066945 G C SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known missense c.3403 p.D1135H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 14 15 51.72 29 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94079237 94079237 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 94079237 94079237 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.3915 p.V1305 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 33 6 15.38 60 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94088400 94088400 + Silent SNP G G T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 94088400 94088400 G T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.4887 p.L1629 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 122 15 10.95 138 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94152932 94152932 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 94152932 94152932 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.7017 p.A2339 0.076 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 93 18 16.22 104 0 0.00 UNC79 57578 genome.wustl.edu 37 14 94160720 94160720 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 94160720 94160720 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known missense c.7693 p.E2565K 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 31 24 43.64 61 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210640689 210640689 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 210640689 210640689 C A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.218 p.S73Y 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 30 15 33.33 42 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210682667 210682667 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 210682667 210682667 G A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.1684 p.V562I 0.154 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 22 16 42.11 55 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210685166 210685166 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 210685166 210685166 G A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known silent c.2094 p.K698 0.992 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 52 81 60.90 61 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210752960 210752960 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 210752960 210752960 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.4258 p.D1420H 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 38 28 42.42 55 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210761093 210761093 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 210761093 210761093 G T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.4339 p.A1447S 0.356 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 28 4 12.50 33 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210804363 210804363 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 210804363 210804363 C T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known silent c.6435 p.F2145 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 33 6 15.38 27 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210809892 210809892 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 210809892 210809892 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.6970 p.E2324Q 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 22 13 37.14 35 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210843409 210843409 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 210843409 210843409 G T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.8897 p.R2966L 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 64 8 11.11 63 0 0.00 UNC80 285175 genome.wustl.edu 37 2 210856956 210856956 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 210856956 210856956 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.9183 p.K3061N 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 43 9 16.98 61 0 0.00 UNC93A 54346 genome.wustl.edu 37 6 167708020 167708020 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 167708020 167708020 G A SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known missense c.103 p.E35K 0.992 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 27 8 22.86 49 0 0.00 UNC93A 54346 genome.wustl.edu 37 6 167711437 167711437 + Silent SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 167711437 167711437 C A SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known silent c.504 p.T168 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 18 42 70.00 142 0 0.00 UNC93A 54346 genome.wustl.edu 37 6 167719471 167719471 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 167719471 167719471 C T SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known silent c.909 p.D303 0.003 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 106 21 16.54 155 0 0.00 UNC93A 54346 genome.wustl.edu 37 6 167728877 167728877 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 167728877 167728877 C G SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known missense c.1311 p.I437M 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 56 10 15.15 104 0 0.00 UNC93B1 81622 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 17 4 19.05 20 0 0.00 UNC93B1 81622 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 9 7 43.75 10 0 0.00 UNC93B1 81622 genome.wustl.edu 37 11 67759294 67759294 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 67759294 67759294 G A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1514 p.A505V 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 22 3 12.00 12 0 0.00 UNC93B1 81622 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 18 5 21.74 19 0 0.00 UNC93B1 81622 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 16 3 15.79 27 0 0.00 UNCX 340260 genome.wustl.edu 37 7 1273250 1273250 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 1273250 1273250 G A SNP UNCX ENST00000316333 human ensembl 70_37 +1 known silent c.369 p.A123 0.994 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 56 27 32.53 122 0 0.00 UNCX 340260 genome.wustl.edu 37 7 1273287 1273287 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 1273287 1273287 G C SNP UNCX ENST00000316333 human ensembl 70_37 +1 known missense c.406 p.E136Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 81 36 30.77 73 0 0.00 UNCX 340260 genome.wustl.edu 37 7 1275967 1275967 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 1275967 1275967 C T SNP UNCX ENST00000316333 human ensembl 70_37 +1 known missense c.950 p.A317V 0.009 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 6 4 40.00 18 0 0.00 UNG 7374 genome.wustl.edu 37 12 109537062 109537062 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 109537062 109537062 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known silent c.408 p.T136 0.304 superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 45 27 36.99 37 0 0.00 UNG 7374 genome.wustl.edu 37 12 109537062 109537062 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 12 109537062 109537062 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known silent c.408 p.T136 0.304 superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 50 41 45.05 87 0 0.00 UNG 7374 genome.wustl.edu 37 12 109539758 109539758 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 109539758 109539758 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known missense c.487 p.H163Y 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 75 24 24.24 111 1 0.89 UNG 7374 genome.wustl.edu 37 12 109541279 109541279 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 109541279 109541279 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known nonsense c.664 p.Q222* 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 79 36 31.30 146 0 0.00 UNK 85451 genome.wustl.edu 37 17 73813417 73813417 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73813417 73813417 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.1343 p.R448K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 98 29 22.83 184 1 0.54 UNK 85451 genome.wustl.edu 37 17 73816073 73816073 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 73816073 73816073 C T SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.1949 p.S650L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 44 9 16.98 41 0 0.00 UNK 85451 genome.wustl.edu 37 17 73818677 73818677 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73818677 73818677 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2185 p.E729Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 64 24 27.27 133 0 0.00 UNK 85451 genome.wustl.edu 37 17 73819469 73819469 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73819469 73819469 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2371 p.E791K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 4 8 66.67 12 0 0.00 UNK 85451 genome.wustl.edu 37 17 73819469 73819469 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 73819469 73819469 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2371 p.E791K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 6 34 85.00 21 0 0.00 UNK 85451 genome.wustl.edu 37 17 73820430 73820430 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 73820430 73820430 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2593 p.E865Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 27 9 25.00 18 0 0.00 UNK 85451 genome.wustl.edu 37 17 73820444 73820444 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73820444 73820444 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2607 p.E869D 0.989 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 6 3 33.33 17 0 0.00 UNKL 64718 genome.wustl.edu 37 16 1420157 1420157 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 1420157 1420157 G C SNP UNKL ENST00000389221 human ensembl 70_37 -1 known missense c.1550 p.S517C 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 33 12 26.67 22 0 0.00 UNKL 64718 genome.wustl.edu 37 16 1453237 1453237 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 1453237 1453237 C T SNP UNKL ENST00000397462 human ensembl 70_37 -1 known silent c.657 p.V219 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 171 19 10.00 119 0 0.00 UNKL 64718 genome.wustl.edu 37 16 1455945 1455945 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 1455945 1455945 T G SNP UNKL ENST00000397462 human ensembl 70_37 -1 known missense c.510 p.E170D 0.004 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 23 8 25.81 44 0 0.00 UNKL 64718 genome.wustl.edu 37 16 1463963 1463963 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 1463963 1463963 G A SNP UNKL ENST00000382757 human ensembl 70_37 -1 known missense c.125 p.S42F 1.000 NULL NULL - no_errors UNKL HGNC ENSG00000059145 23 14 37.84 34 0 0.00 UPB1 51733 genome.wustl.edu 37 22 24923769 24923769 + RNA SNP T T A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 22 24923769 24923769 T A SNP UPB1 ENST00000498140 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UPB1 HGNC ENSG00000100024 50 6 10.71 37 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18966783 18966783 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 18966783 18966783 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.1627 p.E543K 1.000 pfam_Helicase/UvrB_dom pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 22 15 40.54 64 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18967005 18967005 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 18967005 18967005 C T SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known silent c.1753 p.L585 1.000 pfam_Helicase/UvrB_dom pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 28 17 37.78 79 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18968252 18968252 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 18968252 18968252 C T SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known silent c.2125 p.L709 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 35 21 37.50 52 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18974274 18974274 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18974274 18974274 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known silent c.2661 p.P887 0.170 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 56 20 26.32 41 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18976135 18976135 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 18976135 18976135 G C SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.2928 p.Q976H 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 114 16 12.31 114 0 0.00 UPF1 5976 genome.wustl.edu 37 19 18976551 18976551 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 18976551 18976551 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.3234 p.M1078I 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 33 17 34.00 39 0 0.00 UPF2 26019 genome.wustl.edu 37 10 11971866 11971866 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11971866 11971866 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known silent c.3807 p.G1269 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 33 5 12.82 52 0 0.00 UPF2 26019 genome.wustl.edu 37 10 11971934 11971934 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11971934 11971934 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.3739 p.E1247K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 33 7 17.50 46 0 0.00 UPF2 26019 genome.wustl.edu 37 10 11994158 11994158 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 11994158 11994158 C G SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.2941 p.E981Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 85 36 29.75 107 0 0.00 UPF2 26019 genome.wustl.edu 37 10 11994167 11994167 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11994167 11994167 C G SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.2932 p.D978H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 13 7 35.00 47 0 0.00 UPF2 26019 genome.wustl.edu 37 10 11997477 11997477 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 11997477 11997477 G A SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known silent c.2604 p.R868 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 14 9 39.13 35 0 0.00 UPF2 26019 genome.wustl.edu 37 10 12046574 12046574 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 12046574 12046574 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.1459 p.E487K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 44 19 30.16 65 0 0.00 UPF2 26019 genome.wustl.edu 37 10 12056181 12056181 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 12056181 12056181 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.1148 p.R383H 1.000 pfam_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 38 7 15.56 68 0 0.00 UPF2 26019 genome.wustl.edu 37 10 12077300 12077300 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 12077300 12077300 G C SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.123 p.I41M 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 161 91 35.97 198 0 0.00 UPF3A 65110 genome.wustl.edu 37 13 115067351 115067351 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 115067351 115067351 G A SNP UPF3A ENST00000375299 human ensembl 70_37 +1 known missense c.1153 p.E385K 0.999 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 19 4 17.39 21 0 0.00 UPF3B 65109 genome.wustl.edu 37 X 118971800 118971800 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 118971800 118971800 C G SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.1222 p.E408Q 0.959 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 17 9 34.62 17 0 0.00 UPF3B 65109 genome.wustl.edu 37 X 118975126 118975126 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 118975126 118975126 C A SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.720 p.E240D 1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 44 24 35.29 104 0 0.00 UPF3B 65109 genome.wustl.edu 37 X 118979190 118979190 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 118979190 118979190 C G SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.440 p.R147T 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 175 48 21.52 160 0 0.00 UPF3B 65109 genome.wustl.edu 37 X 118985826 118985826 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 118985826 118985826 C T SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.167 p.R56Q 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 43 14 24.56 85 0 0.00 UPK1A 11045 genome.wustl.edu 37 19 36164145 36164145 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36164145 36164145 C T SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known silent c.297 p.L99 0.987 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 75 17 18.48 86 0 0.00 UPK1A 11045 genome.wustl.edu 37 19 36164186 36164186 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36164186 36164186 C T SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known missense c.338 p.T113M 0.998 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 71 20 21.98 85 0 0.00 UPK1A 11045 genome.wustl.edu 37 19 36164350 36164350 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36164350 36164350 A C SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known missense c.371 p.N124T 0.987 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 39 11 22.00 79 0 0.00 UPK1A 11045 genome.wustl.edu 37 19 36164426 36164426 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 36164426 36164426 C G SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known silent c.447 p.L149 0.996 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 74 16 17.78 86 0 0.00 UPK2 7379 genome.wustl.edu 37 11 118828883 118828883 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 118828883 118828883 C T SNP UPK2 ENST00000264031 human ensembl 70_37 +1 known silent c.495 p.V165 0.323 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 20 9 31.03 47 0 0.00 UPK3A 7380 genome.wustl.edu 37 22 45691457 45691457 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 45691457 45691457 G C SNP UPK3A ENST00000216211 human ensembl 70_37 +1 known missense c.721 p.D241H 0.117 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 129 37 22.29 175 0 0.00 UPK3B 80761 genome.wustl.edu 37 7 76144472 76144472 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 76144472 76144472 C T SNP UPK3B ENST00000334348 human ensembl 70_37 +1 known missense c.782 p.P261L 0.968 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 14 7 33.33 28 0 0.00 UPP1 7378 genome.wustl.edu 37 7 48146627 48146627 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 48146627 48146627 C T SNP UPP1 ENST00000331803 human ensembl 70_37 +1 known silent c.594 p.S198 0.001 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 22 4 15.38 34 0 0.00 UPP2 151531 genome.wustl.edu 37 2 158977950 158977950 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 158977950 158977950 G A SNP UPP2 ENST00000409859 human ensembl 70_37 +1 known missense c.655 p.D219N 0.834 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 191 66 25.68 126 0 0.00 UPP2 151531 genome.wustl.edu 37 2 158980369 158980369 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 158980369 158980369 C T SNP UPP2 ENST00000409859 human ensembl 70_37 +1 known missense c.944 p.T315I 0.998 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 11 10 47.62 38 0 0.00 UPRT 139596 genome.wustl.edu 37 X 74523424 74523424 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 74523424 74523424 G A SNP UPRT ENST00000474175 human ensembl 70_37 +1 known rna NULL NULL 0.285 - - - no_errors UPRT HGNC ENSG00000094841 23 11 32.35 36 0 0.00 UQCR11 10975 genome.wustl.edu 37 19 1605403 1605403 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 1605403 1605403 C T SNP UQCR11 ENST00000262946 human ensembl 70_37 -1 known silent c.6 p.V2 0.996 pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4 pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4 - no_errors UQCR11 Uniprot_genename ENSG00000267059 10 5 33.33 11 0 0.00 UQCRB 7381 genome.wustl.edu 37 8 97244130 97244130 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 97244130 97244130 C A SNP UQCRB ENST00000521036 human ensembl 70_37 -1 known missense c.130 p.V44L 1.000 pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa - no_errors UQCRB HGNC ENSG00000156467 51 34 40.00 48 0 0.00 UQCRB 7381 genome.wustl.edu 37 8 97245436 97245436 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 97245436 97245436 C A SNP UQCRB ENST00000521036 human ensembl 70_37 -1 known missense c.39 p.W13C 1.000 pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa - no_errors UQCRB HGNC ENSG00000156467 24 6 20.00 30 0 0.00 UQCRC1 7384 genome.wustl.edu 37 3 48643248 48643248 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 48643248 48643248 C T SNP UQCRC1 ENST00000415995 human ensembl 70_37 -1 known missense c.116 p.R39K 1.000 NULL NULL - no_errors UQCRC1 HGNC ENSG00000010256 29 15 34.09 57 0 0.00 UQCRC2 7385 genome.wustl.edu 37 16 21964776 21964776 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 21964776 21964776 C T SNP UQCRC2 ENST00000268379 human ensembl 70_37 +1 known missense c.32 p.S11L 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 15 7 31.82 17 0 0.00 UQCRC2 7385 genome.wustl.edu 37 16 21974083 21974083 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21974083 21974083 G A SNP UQCRC2 ENST00000268379 human ensembl 70_37 +1 known missense c.391 p.D131N 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 31 14 31.11 71 0 0.00 UQCRC2 7385 genome.wustl.edu 37 16 21994417 21994417 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 21994417 21994417 G A SNP UQCRC2 ENST00000561553 human ensembl 70_37 +1 putative missense c.1133 p.R378K 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 102 16 13.56 128 0 0.00 UQCRFS1 7386 genome.wustl.edu 37 19 29698958 29698958 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 29698958 29698958 C T SNP UQCRFS1 ENST00000304863 human ensembl 70_37 -1 known missense c.322 p.E108K 0.991 pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 100 21 17.36 84 0 0.00 UQCRFS1 7386 genome.wustl.edu 37 19 29699033 29699033 + Missense_Mutation SNP T T C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 29699033 29699033 T C SNP UQCRFS1 ENST00000304863 human ensembl 70_37 -1 known missense c.247 p.I83V 0.746 pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 44 6 12.00 53 0 0.00 UQCRQ 27089 genome.wustl.edu 37 5 132203226 132203226 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 5 132203226 132203226 C T SNP UQCRQ ENST00000378665 human ensembl 70_37 +1 known silent c.201 p.F67 0.991 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 - no_errors UQCRQ HGNC ENSG00000164405 28 10 26.32 57 0 0.00 UQCRQ 27089 genome.wustl.edu 37 5 132203227 132203227 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 132203227 132203227 G C SNP UQCRQ ENST00000378665 human ensembl 70_37 +1 known missense c.202 p.E68Q 0.995 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 - no_errors UQCRQ HGNC ENSG00000164405 20 10 33.33 33 0 0.00 URB1 9875 genome.wustl.edu 37 21 33692922 33692922 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 21 33692922 33692922 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known missense c.5513 p.A1838V 0.882 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 28 4 12.12 57 0 0.00 URB1 9875 genome.wustl.edu 37 21 33692951 33692951 + Splice_Site SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 33692951 33692951 C G SNP URB1 ENST00000382751 human ensembl 70_37 -1 known splice_site c.5485-1 e35-1 0.999 - - - no_errors URB1 HGNC ENSG00000142207 15 19 55.88 17 0 0.00 URB1 9875 genome.wustl.edu 37 21 33694162 33694162 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33694162 33694162 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.5433 p.F1811 1.000 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 22 12 35.29 35 0 0.00 URB1 9875 genome.wustl.edu 37 21 33694880 33694880 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33694880 33694880 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.5248 p.L1750 0.944 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 23 22 48.89 47 0 0.00 URB1 9875 genome.wustl.edu 37 21 33725190 33725190 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 21 33725190 33725190 C T SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.2442 p.T814 0.000 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 68 14 17.07 47 0 0.00 URB1 9875 genome.wustl.edu 37 21 33750820 33750820 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 33750820 33750820 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known nonsense c.598 p.Q200* 1.000 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 26 15 36.59 62 0 0.00 URB2 9816 genome.wustl.edu 37 1 229771669 229771669 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229771669 229771669 G A SNP URB2 ENST00000258243 human ensembl 70_37 +1 known missense c.1309 p.D437N 0.980 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 17 3 15.00 45 0 0.00 URB2 9816 genome.wustl.edu 37 1 229773070 229773070 + Silent SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 229773070 229773070 T C SNP URB2 ENST00000258243 human ensembl 70_37 +1 known silent c.2710 p.L904 0.018 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 37 6 13.95 58 0 0.00 URB2 9816 genome.wustl.edu 37 1 229773087 229773087 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 229773087 229773087 C G SNP URB2 ENST00000258243 human ensembl 70_37 +1 known silent c.2727 p.L909 0.143 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 33 8 19.51 66 0 0.00 URGCP 55665 genome.wustl.edu 37 7 43916610 43916610 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 43916610 43916610 C G SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.2452 p.V818L 1.000 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 24 8 25.00 30 0 0.00 URGCP 55665 genome.wustl.edu 37 7 43916664 43916664 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43916664 43916664 G A SNP URGCP ENST00000453200 human ensembl 70_37 -1 known silent c.2398 p.L800 0.915 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 10 8 44.44 23 0 0.00 URGCP 55665 genome.wustl.edu 37 7 43916794 43916794 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 43916794 43916794 C G SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.2268 p.L756F 0.075 prints_GTP_binding_domain prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 24 10 29.41 36 0 0.00 URGCP 55665 genome.wustl.edu 37 7 43917456 43917456 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 7 43917456 43917456 G C SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.1606 p.R536G 0.027 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 30 6 16.67 52 0 0.00 URGCP 55665 genome.wustl.edu 37 7 43918600 43918600 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43918600 43918600 C T SNP URGCP ENST00000453200 human ensembl 70_37 -1 known silent c.462 p.E154 0.000 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 30 31 50.82 47 0 0.00 URI1 8725 genome.wustl.edu 37 19 30505884 30505884 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 30505884 30505884 C A SNP URI1 ENST00000542441 human ensembl 70_37 +1 known missense c.1516 p.P506T 0.998 NULL pfam_Prefoldin_subunit,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 43 5 10.42 54 0 0.00 URM1 81605 genome.wustl.edu 37 9 131150142 131150142 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 131150142 131150142 G C SNP URM1 ENST00000452446 human ensembl 70_37 +1 known missense c.154 p.E52Q 1.000 pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 104 53 33.76 152 0 0.00 URM1 81605 genome.wustl.edu 37 9 131151899 131151899 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 131151899 131151899 G A SNP URM1 ENST00000483206 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors URM1 HGNC ENSG00000167118 15 5 25.00 36 0 0.00 URM1 81605 genome.wustl.edu 37 9 131151912 131151912 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131151912 131151912 G A SNP URM1 ENST00000483206 human ensembl 70_37 +1 known rna NULL NULL 0.127 - - - no_errors URM1 HGNC ENSG00000167118 17 15 46.88 59 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126201220 126201220 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 126201220 126201220 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known nonsense c.1999 p.E667* 0.849 NULL pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 20 7 25.93 26 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126201258 126201258 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 126201258 126201258 C T SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1961 p.S654N 0.001 superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 13 4 23.53 24 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126202258 126202258 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 126202258 126202258 G C SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1844 p.A615G 0.999 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 21 15 41.67 22 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126208147 126208147 + Missense_Mutation SNP G G T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 3 126208147 126208147 G T SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1680 p.N560K 1.000 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 33 4 10.81 52 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126217012 126217012 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 126217012 126217012 G T SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1320 p.D440E 1.000 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 34 18 34.62 90 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126218960 126218960 + Nonsense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 126218960 126218960 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known nonsense c.1183 p.E395* 0.694 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 129 18 12.24 89 0 0.00 UROC1 131669 genome.wustl.edu 37 3 126219628 126219628 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 126219628 126219628 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1055 p.G352V 0.997 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 35 4 10.26 38 0 0.00 UROD 7389 genome.wustl.edu 37 1 45479966 45479967 + RNA INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 45479966 45479967 - T INS UROD ENST00000472254 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.007 - - - no_errors UROD HGNC ENSG00000126088 19 4 17.39 17 0 0.00 UROD 7389 genome.wustl.edu 37 1 45480138 45480138 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 45480138 45480138 G A SNP UROD ENST00000246337 human ensembl 70_37 +1 known missense c.664 p.G222R 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC ENSG00000126088 45 12 21.05 50 0 0.00 UROS 7390 genome.wustl.edu 37 10 127503687 127503687 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 127503687 127503687 C G SNP UROS ENST00000368786 human ensembl 70_37 -1 known missense c.160 p.E54Q 0.609 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 29 12 29.27 31 0 0.00 USF2 7392 genome.wustl.edu 37 19 35770409 35770409 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 35770409 35770409 C G SNP USF2 ENST00000600341 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors USF2 HGNC ENSG00000105698 53 11 17.19 22 0 0.00 USH1C 10083 genome.wustl.edu 37 11 17517199 17517199 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 17517199 17517199 C T SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2572 p.E858K 0.096 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 32 5 13.51 44 0 0.00 USH1C 10083 genome.wustl.edu 37 11 17522622 17522622 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17522622 17522622 C G SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2356 p.E786Q 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 35 23 39.66 53 0 0.00 USH1C 10083 genome.wustl.edu 37 11 17522649 17522649 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 17522649 17522649 C A SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2329 p.G777W 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 45 25 35.71 55 0 0.00 USH1G 124590 genome.wustl.edu 37 17 72915595 72915595 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 72915595 72915595 G T SNP USH1G ENST00000319642 human ensembl 70_37 -1 known silent c.1336 p.R446 0.970 superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 9 3 25.00 21 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215802256 215802256 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 1 215802256 215802256 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.15491 p.S5164F 0.105 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 112 42 27.27 165 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215807849 215807849 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 215807849 215807849 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.15249 p.Q5083 0.995 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 68 11 13.92 44 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215847796 215847796 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 215847796 215847796 A G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.13457 p.V4486A 0.196 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 11 8 42.11 31 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 215848679 215848679 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.12574 p.R4192C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 137 17 11.04 168 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 215848679 215848679 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.12574 p.R4192C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 48 18 27.27 32 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215901538 215901538 + Missense_Mutation SNP T T C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 1 215901538 215901538 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.11900 p.D3967G 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 16 5 23.81 68 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215901724 215901724 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 215901724 215901724 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.11714 p.R3905H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 9 4 30.77 26 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215953249 215953249 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 215953249 215953249 G C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.10875 p.I3625M 0.938 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 39 31 42.47 54 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215955461 215955461 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 215955461 215955461 C A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known nonsense c.10663 p.E3555* 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 40 13 24.53 58 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215963499 215963499 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 215963499 215963499 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.10084 p.E3362K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 44 15 25.42 58 0 0.00 USH2A 7399 genome.wustl.edu 37 1 215987235 215987235 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 215987235 215987235 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.9582 p.N3194 0.415 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 22 5 18.52 44 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216019310 216019310 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 216019310 216019310 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.8911 p.D2971N 0.905 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 13 9 40.91 38 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216138803 216138803 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 216138803 216138803 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.6976 p.E2326Q 0.998 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 23 13 36.11 71 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216138814 216138814 + Missense_Mutation SNP T T C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 216138814 216138814 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.6965 p.N2322S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 38 62 62.00 80 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216166366 216166366 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 216166366 216166366 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.6801 p.P2267 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 37 38 50.67 62 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216246615 216246615 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 216246615 216246615 T G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.5600 p.K1867T 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 14 3 17.65 23 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216256809 216256809 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 216256809 216256809 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.5287 p.D1763H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 153 103 40.23 182 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216348638 216348638 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 216348638 216348638 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.4583 p.C1528Y 0.495 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 20 50 71.43 49 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216380627 216380627 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 216380627 216380627 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known nonsense c.3304 p.Q1102* 0.897 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 25 18 41.86 45 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216390881 216390881 + Missense_Mutation SNP C C A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 216390881 216390881 C A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.3005 p.C1002F 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 20 3 13.04 30 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216420458 216420458 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 1 216420458 216420458 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.2278 p.N760D 0.996 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 30 4 11.76 17 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216462663 216462663 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 216462663 216462663 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1930 p.D644H 0.995 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 19 11 36.67 46 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216462695 216462695 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 216462695 216462695 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1898 p.S633L 0.987 smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 54 19 26.03 53 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216465554 216465554 + Silent SNP T T C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 216465554 216465554 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.1803 p.G601 0.477 pfam_EGF_laminin,smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 145 35 19.44 156 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216497640 216497640 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 216497640 216497640 G C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1198 p.Q400E 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 15 12 44.44 23 0 0.00 USH2A 7399 genome.wustl.edu 37 1 216595454 216595454 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 216595454 216595454 A C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.225 p.S75R 0.000 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 14 4 22.22 73 0 0.00 USHBP1 83878 genome.wustl.edu 37 19 17367422 17367422 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17367422 17367422 G A SNP USHBP1 ENST00000252597 human ensembl 70_37 -1 known missense c.1328 p.S443L 0.028 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 16 10 38.46 35 0 0.00 USHBP1 83878 genome.wustl.edu 37 19 17374921 17374921 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 17374921 17374921 G A SNP USHBP1 ENST00000252597 human ensembl 70_37 -1 known silent c.93 p.V31 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 27 16 37.21 40 0 0.00 USO1 8615 genome.wustl.edu 37 4 76721919 76721919 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 76721919 76721919 C T SNP USO1 ENST00000538159 human ensembl 70_37 +1 known missense c.1858 p.H620Y 1.000 pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 31 31 50.00 80 0 0.00 USP1 7398 genome.wustl.edu 37 1 62907935 62907935 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 62907935 62907935 G A SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.361 p.E121K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 26 20 43.48 34 0 0.00 USP1 7398 genome.wustl.edu 37 1 62910563 62910563 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 62910563 62910563 C G SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.712 p.H238D 0.006 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 39 9 18.75 27 0 0.00 USP1 7398 genome.wustl.edu 37 1 62910594 62910594 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 62910594 62910594 G T SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.743 p.S248I 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 60 28 31.82 40 0 0.00 USP1 7398 genome.wustl.edu 37 1 62916624 62916624 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 62916624 62916624 C T SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.2330 p.P777L 1.000 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 40 10 20.00 73 0 0.00 USP10 9100 genome.wustl.edu 37 16 84778704 84778704 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 16 84778704 84778704 C T SNP USP10 ENST00000570191 human ensembl 70_37 +1 known missense c.629 p.P210L 0.999 NULL pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC ENSG00000103194 40 35 46.67 80 0 0.00 USP10 9100 genome.wustl.edu 37 16 84793794 84793794 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 84793794 84793794 C T SNP USP10 ENST00000570191 human ensembl 70_37 +1 known silent c.1479 p.I493 0.043 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC ENSG00000103194 37 18 32.73 52 0 0.00 USP10 9100 genome.wustl.edu 37 16 84808824 84808824 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 84808824 84808824 C G SNP USP10 ENST00000570191 human ensembl 70_37 +1 known silent c.2214 p.L738 0.820 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC ENSG00000103194 37 6 13.95 55 0 0.00 USP11 8237 genome.wustl.edu 37 X 47098791 47098791 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 47098791 47098791 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.457 p.E153K 0.147 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 51 23 31.08 59 0 0.00 USP11 8237 genome.wustl.edu 37 X 47101546 47101546 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47101546 47101546 C T SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.1374 p.F458 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 36 7 16.28 23 0 0.00 USP11 8237 genome.wustl.edu 37 X 47101546 47101546 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47101546 47101546 C T SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.1374 p.F458 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 49 12 19.67 57 0 0.00 USP11 8237 genome.wustl.edu 37 X 47104246 47104246 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 47104246 47104246 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2138 p.R713H 0.919 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 18 6 25.00 42 0 0.00 USP11 8237 genome.wustl.edu 37 X 47106535 47106535 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47106535 47106535 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2464 p.E822K 0.993 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 41 17 29.31 81 0 0.00 USP11 8237 genome.wustl.edu 37 X 47106541 47106541 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47106541 47106541 C G SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2470 p.L824V 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 69 23 24.73 103 0 0.00 USP11 8237 genome.wustl.edu 37 X 47106743 47106743 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 47106743 47106743 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2590 p.E864K 0.308 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 84 11 11.58 90 0 0.00 USP11 8237 genome.wustl.edu 37 X 47106748 47106748 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47106748 47106748 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.2595 p.S865 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 71 17 19.10 82 0 0.00 USP12 219333 genome.wustl.edu 37 13 27649460 27649460 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 27649460 27649460 T A SNP USP12 ENST00000282344 human ensembl 70_37 -1 known missense c.800 p.Q267L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 22 17 43.59 49 0 0.00 USP15 9958 genome.wustl.edu 37 12 62775325 62775325 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 62775325 62775325 G A SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 28 5 15.15 64 0 0.00 USP15 9958 genome.wustl.edu 37 12 62784715 62784715 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62784715 62784715 T G SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.1916 p.I639S 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 17 9 34.62 34 0 0.00 USP15 9958 genome.wustl.edu 37 12 62798108 62798108 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 62798108 62798108 G C SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.2899 p.D967H 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 21 10 32.26 59 0 0.00 USP15 9958 genome.wustl.edu 37 12 62798351 62798351 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62798351 62798351 T G SNP USP15 ENST00000552346 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors USP15 HGNC ENSG00000135655 8 3 27.27 22 0 0.00 USP17L2 377630 genome.wustl.edu 37 8 11995421 11995421 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 11995421 11995421 G C SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.849 p.F283L 0.045 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC ENSG00000223443 178 33 15.57 222 0 0.00 USP17L2 377630 genome.wustl.edu 37 8 11995785 11995785 + Missense_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 11995785 11995785 T A SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.485 p.H162L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC ENSG00000223443 96 11 10.28 82 0 0.00 USP17L2 377630 genome.wustl.edu 37 8 11995849 11995849 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 11995849 11995849 G A SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.421 p.H141Y 0.632 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC ENSG00000223443 23 68 74.73 98 0 0.00 USP17L2 377630 genome.wustl.edu 37 8 11995989 11995990 + Frame_Shift_Ins INS - - A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 11995989 11995990 - A INS USP17L2 ENST00000333796 human ensembl 70_37 -1 known frame_shift_ins c.281_280 p.S94fs 0.963:0.934 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC ENSG00000223443 178 47 20.89 251 0 0.00 USP17L2 377630 genome.wustl.edu 37 8 11996239 11996239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 11996239 11996239 C G SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.573 NULL pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC ENSG00000223443 24 27 52.94 37 0 0.00 USP18 11274 genome.wustl.edu 37 22 18640517 18640517 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 18640517 18640517 G C SNP USP18 ENST00000215794 human ensembl 70_37 +1 known missense c.87 p.K29N 0.032 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP18 HGNC ENSG00000184979 40 14 25.93 45 0 0.00 USP19 10869 genome.wustl.edu 37 3 49147778 49147778 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49147778 49147778 C T SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.3568 p.D1190N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 31 8 20.51 50 0 0.00 USP19 10869 genome.wustl.edu 37 3 49147892 49147892 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49147892 49147892 G C SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.3535 p.Q1179E 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 23 22 48.89 36 0 0.00 USP19 10869 genome.wustl.edu 37 3 49151464 49151464 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49151464 49151464 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.2157 p.Q719H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 22 5 18.52 48 0 0.00 USP19 10869 genome.wustl.edu 37 3 49152994 49152994 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49152994 49152994 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.1462 p.E488Q 1.000 pfam_DUF1872 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 17 6 26.09 35 0 0.00 USP19 10869 genome.wustl.edu 37 3 49153054 49153054 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49153054 49153054 C T SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.1402 p.V468M 1.000 pfam_DUF1872 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 22 7 24.14 48 0 0.00 USP19 10869 genome.wustl.edu 37 3 49154041 49154041 + Splice_Site SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 49154041 49154041 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known splice_site c.824-1 e6-1 1.000 - - - no_errors USP19 HGNC ENSG00000172046 78 18 18.75 99 0 0.00 USP20 10868 genome.wustl.edu 37 9 132627642 132627642 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 132627642 132627642 C G SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.672 p.F224L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 52 9 14.75 42 0 0.00 USP20 10868 genome.wustl.edu 37 9 132631176 132631176 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 132631176 132631176 C T SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.1171 p.R391C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 82 12 12.77 89 0 0.00 USP20 10868 genome.wustl.edu 37 9 132637226 132637226 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 132637226 132637226 C G SNP USP20 ENST00000315480 human ensembl 70_37 +1 known silent c.2040 p.L680 0.990 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 25 12 32.43 51 0 0.00 USP20 10868 genome.wustl.edu 37 9 132637870 132637870 + Missense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 9 132637870 132637870 C A SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.2250 p.D750E 0.997 smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 27 20 42.55 78 0 0.00 USP20 10868 genome.wustl.edu 37 9 132640638 132640638 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 132640638 132640638 G A SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.2431 p.E811K 1.000 smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 13 16 55.17 25 0 0.00 USP20 10868 genome.wustl.edu 37 9 132641781 132641781 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 132641781 132641781 G A SNP USP20 ENST00000472108 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors USP20 HGNC ENSG00000136878 42 37 46.84 104 0 0.00 USP21 27005 genome.wustl.edu 37 1 161131810 161131810 + RNA SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 161131810 161131810 T G SNP USP21 ENST00000487163 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors USP21 HGNC ENSG00000143258 77 12 13.48 62 0 0.00 USP21 27005 genome.wustl.edu 37 1 161133352 161133352 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161133352 161133352 G A SNP USP21 ENST00000289865 human ensembl 70_37 +1 known missense c.1057 p.D353N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC ENSG00000143258 80 11 12.09 37 0 0.00 USP21 27005 genome.wustl.edu 37 1 161134399 161134399 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 161134399 161134399 C T SNP USP21 ENST00000289865 human ensembl 70_37 +1 known missense c.1381 p.L461F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC ENSG00000143258 18 9 33.33 17 0 0.00 USP22 23326 genome.wustl.edu 37 17 20919105 20919105 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 20919105 20919105 G A SNP USP22 ENST00000261497 human ensembl 70_37 -1 known silent c.798 p.F266 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP22 HGNC ENSG00000124422 45 7 13.46 40 0 0.00 USP22 23326 genome.wustl.edu 37 17 20919144 20919144 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 20919144 20919144 C T SNP USP22 ENST00000261497 human ensembl 70_37 -1 known silent c.759 p.R253 0.999 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP22 HGNC ENSG00000124422 19 10 34.48 24 0 0.00 USP24 23358 genome.wustl.edu 37 1 55538465 55538465 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 55538465 55538465 C G SNP USP24 ENST00000294383 human ensembl 70_37 -1 known missense c.7596 p.Q2532H 1.000 NULL pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 20 6 22.22 25 0 0.00 USP24 23358 genome.wustl.edu 37 1 55539505 55539505 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 55539505 55539505 G A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.7522 p.Q2508* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 21 3 12.50 30 0 0.00 USP24 23358 genome.wustl.edu 37 1 55569602 55569602 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55569602 55569602 C A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.4972 p.E1658* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 9 5 35.71 35 0 0.00 USP24 23358 genome.wustl.edu 37 1 55586325 55586325 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 55586325 55586325 G A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known silent c.4452 p.L1484 0.987 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 30 15 33.33 36 0 0.00 USP24 23358 genome.wustl.edu 37 1 55624561 55624561 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55624561 55624561 G T SNP USP24 ENST00000294383 human ensembl 70_37 -1 known missense c.1217 p.S406Y 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 19 16 45.71 42 0 0.00 USP24 23358 genome.wustl.edu 37 1 55624600 55624600 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 55624600 55624600 C T SNP USP24 ENST00000294383 human ensembl 70_37 -1 known missense c.1178 p.R393H 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 33 20 37.74 23 0 0.00 USP24 23358 genome.wustl.edu 37 1 55680734 55680734 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 55680734 55680734 G C SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.53 p.S18* 1.000 superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 11 6 35.29 14 0 0.00 USP25 29761 genome.wustl.edu 37 21 17246834 17246834 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 17246834 17246834 G T SNP USP25 ENST00000400183 human ensembl 70_37 +1 known nonsense c.2998 p.E1000* 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 7 4 33.33 37 0 0.00 USP26 83844 genome.wustl.edu 37 X 132159590 132159590 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 132159590 132159590 C T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2659 p.E887K 0.975 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 54 10 15.62 41 0 0.00 USP26 83844 genome.wustl.edu 37 X 132159901 132159901 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 132159901 132159901 G C SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2348 p.S783C 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 43 6 12.24 52 0 0.00 USP26 83844 genome.wustl.edu 37 X 132159937 132159937 + Missense_Mutation SNP T T G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 132159937 132159937 T G SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2312 p.N771T 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 37 29 43.94 39 0 0.00 USP26 83844 genome.wustl.edu 37 X 132161099 132161099 + Missense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 X 132161099 132161099 G A SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.1150 p.H384Y 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 149 45 23.08 133 0 0.00 USP26 83844 genome.wustl.edu 37 X 132161143 132161143 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 132161143 132161143 G T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.1106 p.S369* 0.047 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 35 20 36.36 29 0 0.00 USP26 83844 genome.wustl.edu 37 X 132161143 132161143 + Nonsense_Mutation SNP G G T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 132161143 132161143 G T SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.1106 p.S369* 0.047 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 72 43 37.39 157 0 0.00 USP26 83844 genome.wustl.edu 37 X 132161383 132161383 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 132161383 132161383 A G SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.866 p.F289S 0.001 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 24 4 14.29 59 0 0.00 USP26 83844 genome.wustl.edu 37 X 132161543 132161543 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 132161543 132161543 C A SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.706 p.E236* 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 12 10 45.45 18 0 0.00 USP28 57646 genome.wustl.edu 37 11 113674600 113674600 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 113674600 113674600 C G SNP USP28 ENST00000003302 human ensembl 70_37 -1 known splice_site c.2659-1 e22-1 1.000 - - - no_errors USP28 HGNC ENSG00000048028 23 17 42.50 34 0 0.00 USP28 57646 genome.wustl.edu 37 11 113685932 113685932 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 113685932 113685932 G A SNP USP28 ENST00000003302 human ensembl 70_37 -1 known nonsense c.1636 p.Q546* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC ENSG00000048028 7 39 84.78 51 0 0.00 USP28 57646 genome.wustl.edu 37 11 113698046 113698046 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 113698046 113698046 C T SNP USP28 ENST00000003302 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC ENSG00000048028 69 23 25.00 96 0 0.00 USP28 57646 genome.wustl.edu 37 11 113711322 113711322 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 113711322 113711322 G A SNP USP28 ENST00000003302 human ensembl 70_37 -1 known nonsense c.532 p.Q178* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC ENSG00000048028 62 17 21.52 83 0 0.00 USP29 57663 genome.wustl.edu 37 19 57640514 57640514 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 57640514 57640514 G C SNP USP29 ENST00000254181 human ensembl 70_37 +1 known silent c.471 p.V157 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 18 9 33.33 32 0 0.00 USP29 57663 genome.wustl.edu 37 19 57641166 57641166 + Nonsense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 57641166 57641166 G T SNP USP29 ENST00000254181 human ensembl 70_37 +1 known nonsense c.1123 p.E375* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 12 7 36.84 29 0 0.00 USP29 57663 genome.wustl.edu 37 19 57641463 57641463 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 57641463 57641463 G C SNP USP29 ENST00000254181 human ensembl 70_37 +1 known missense c.1420 p.D474H 0.951 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 26 12 31.58 37 0 0.00 USP29 57663 genome.wustl.edu 37 19 57641624 57641624 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 19 57641624 57641624 G T SNP USP29 ENST00000254181 human ensembl 70_37 +1 known missense c.1581 p.E527D 0.998 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 27 4 12.90 31 0 0.00 USP29 57663 genome.wustl.edu 37 19 57641688 57641688 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 57641688 57641688 C T SNP USP29 ENST00000254181 human ensembl 70_37 +1 known missense c.1645 p.L549F 0.891 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 295 85 22.31 367 0 0.00 USP3 9960 genome.wustl.edu 37 15 63880981 63880981 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 63880981 63880981 G A SNP USP3 ENST00000380324 human ensembl 70_37 +1 known silent c.1296 p.L432 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP3 HGNC ENSG00000140455 41 21 33.87 85 0 0.00 USP30 84749 genome.wustl.edu 37 12 109505432 109505432 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 109505432 109505432 G A SNP USP30 ENST00000257548 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP30 HGNC ENSG00000135093 48 19 28.36 63 0 0.00 USP31 57478 genome.wustl.edu 37 16 23079813 23079813 + Missense_Mutation SNP G G A TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 16 23079813 23079813 G A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.3613 p.R1205C 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 16 19 54.29 36 0 0.00 USP31 57478 genome.wustl.edu 37 16 23080124 23080124 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 23080124 23080124 G T SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.3302 p.P1101Q 0.270 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 21 3 12.50 41 0 0.00 USP31 57478 genome.wustl.edu 37 16 23098489 23098489 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 16 23098489 23098489 G A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.1546 p.R516C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 35 4 10.26 37 0 0.00 USP31 57478 genome.wustl.edu 37 16 23116857 23116857 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 23116857 23116857 G A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.994 p.H332Y 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 45 21 31.82 46 0 0.00 USP31 57478 genome.wustl.edu 37 16 23117742 23117742 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 23117742 23117742 C A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known nonsense c.838 p.E280* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 33 4 10.81 34 0 0.00 USP31 57478 genome.wustl.edu 37 16 23119422 23119422 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 23119422 23119422 C A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.716 p.R239L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 29 20 40.82 36 0 0.00 USP32 84669 genome.wustl.edu 37 17 58260600 58260600 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 58260600 58260600 G A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.4049 p.S1350L 0.293 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 120 35 22.58 136 1 0.73 USP32 84669 genome.wustl.edu 37 17 58288768 58288768 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 58288768 58288768 T A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.2287 p.I763F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 102 53 34.19 138 0 0.00 USP32 84669 genome.wustl.edu 37 17 58292072 58292072 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 58292072 58292072 C A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1931 p.R644L 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 35 13 27.08 69 0 0.00 USP32 84669 genome.wustl.edu 37 17 58303502 58303502 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 58303502 58303502 C T SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1330 p.E444K 0.984 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 40 8 16.67 51 0 0.00 USP32 84669 genome.wustl.edu 37 17 58303537 58303537 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 58303537 58303537 G A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.016 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 15 22 59.46 35 0 0.00 USP32P1 162632 genome.wustl.edu 37 17 16691337 16691337 + RNA DEL G G - TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 16691337 16691337 G - DEL USP32P1 ENST00000393005 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors USP32P1 HGNC ENSG00000188933 6 4 40.00 9 0 0.00 USP32P1 162632 genome.wustl.edu 37 17 16703657 16703657 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 17 16703657 16703657 C T SNP USP32P1 ENST00000341745 human ensembl 70_37 +1 known rna NULL NULL 0.816 - - - no_errors USP32P1 HGNC ENSG00000188933 217 25 10.29 256 0 0.00 USP32P1 162632 genome.wustl.edu 37 17 16706959 16706959 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 16706959 16706959 C G SNP USP32P1 ENST00000341745 human ensembl 70_37 +1 known rna NULL NULL 0.755 - - - no_errors USP32P1 HGNC ENSG00000188933 33 6 15.38 44 0 0.00 USP32P2 220594 genome.wustl.edu 37 17 18415611 18415611 + RNA SNP A A C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 18415611 18415611 A C SNP USP32P2 ENST00000412260 human ensembl 70_37 -1 known rna NULL NULL 0.146 - - - no_errors USP32P2 HGNC ENSG00000233327 47 12 20.34 56 0 0.00 USP33 23032 genome.wustl.edu 37 1 78183553 78183553 + Missense_Mutation SNP A A C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 78183553 78183553 A C SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.2010 p.S670R 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 27 14 34.15 35 0 0.00 USP33 23032 genome.wustl.edu 37 1 78189054 78189054 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 78189054 78189054 T G SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.1444 p.T482P 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 41 24 36.92 48 0 0.00 USP33 23032 genome.wustl.edu 37 1 78194240 78194240 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 78194240 78194240 G A SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.968 p.S323F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 41 18 30.51 79 0 0.00 USP34 9736 genome.wustl.edu 37 2 61436045 61436045 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 2 61436045 61436045 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.8908 p.L2970I 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 22 3 12.00 29 0 0.00 USP34 9736 genome.wustl.edu 37 2 61493135 61493135 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 61493135 61493135 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5601 p.M1867I 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 90 51 36.17 166 0 0.00 USP34 9736 genome.wustl.edu 37 2 61493167 61493167 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 61493167 61493167 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5569 p.E1857K 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 29 21 42.00 41 0 0.00 USP34 9736 genome.wustl.edu 37 2 61505365 61505365 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 61505365 61505365 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5368 p.L1790I 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 20 3 13.04 28 0 0.00 USP34 9736 genome.wustl.edu 37 2 61510366 61510366 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 61510366 61510366 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.4912 p.H1638N 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 65 14 17.72 68 0 0.00 USP34 9736 genome.wustl.edu 37 2 61520659 61520659 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 61520659 61520659 C G SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.4488 p.Q1496H 0.996 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 23 15 39.47 35 0 0.00 USP34 9736 genome.wustl.edu 37 2 61561086 61561086 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 61561086 61561086 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.2765 p.R922H 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 25 25 50.00 60 0 0.00 USP34 9736 genome.wustl.edu 37 2 61575399 61575399 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 2 61575399 61575399 G C SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.1891 p.H631D 0.998 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 58 37 38.95 86 0 0.00 USP34 9736 genome.wustl.edu 37 2 61647956 61647956 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 61647956 61647956 T C SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.56 p.E19G 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 41 6 12.77 27 0 0.00 USP35 57558 genome.wustl.edu 37 11 77911809 77911809 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 77911809 77911809 C T SNP USP35 ENST00000529308 human ensembl 70_37 +1 known silent c.1152 p.F384 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 18 18 50.00 51 0 0.00 USP35 57558 genome.wustl.edu 37 11 77917022 77917022 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 77917022 77917022 C G SNP USP35 ENST00000441408 human ensembl 70_37 +1 known nonsense c.86 p.S29* 1.000 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 50 20 28.57 76 0 0.00 USP35 57558 genome.wustl.edu 37 11 77921400 77921400 + Silent SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 77921400 77921400 C A SNP USP35 ENST00000529308 human ensembl 70_37 +1 known silent c.2499 p.L833 0.679 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 29 14 32.56 42 0 0.00 USP35 57558 genome.wustl.edu 37 11 77924696 77924698 + In_Frame_Del DEL AGG AGG - TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 77924696 77924698 AGG - DEL USP35 ENST00000529308 human ensembl 70_37 +1 known in_frame_del c.2894_2896 p.E966in_frame_del 1.000:1.000:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 32 11 25.58 64 0 0.00 USP36 57602 genome.wustl.edu 37 17 76794610 76794610 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 76794610 76794610 C G SNP USP36 ENST00000312010 human ensembl 70_37 -1 known missense c.3264 p.K1088N 0.995 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 149 45 23.20 188 0 0.00 USP36 57602 genome.wustl.edu 37 17 76799495 76799495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 17 76799495 76799495 C T SNP USP36 ENST00000312010 human ensembl 70_37 -1 known missense c.2782 p.G928S 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 68 10 12.82 60 0 0.00 USP37 57695 genome.wustl.edu 37 2 219321885 219321885 + Splice_Site SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 219321885 219321885 C T SNP USP37 ENST00000258399 human ensembl 70_37 -1 known splice_site c.2644-1 e21-1 1.000 - - - no_errors USP37 HGNC ENSG00000135913 14 10 41.67 21 0 0.00 USP37 57695 genome.wustl.edu 37 2 219330900 219330900 + Splice_Site SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 219330900 219330900 C A SNP USP37 ENST00000258399 human ensembl 70_37 -1 known splice_site c.2300-1 e18-1 1.000 - - - no_errors USP37 HGNC ENSG00000135913 42 6 12.50 29 0 0.00 USP37 57695 genome.wustl.edu 37 2 219362460 219362460 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219362460 219362460 C G SNP USP37 ENST00000258399 human ensembl 70_37 -1 known missense c.1278 p.Q426H 0.998 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC ENSG00000135913 39 10 20.41 32 0 0.00 USP37 57695 genome.wustl.edu 37 2 219362850 219362850 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 219362850 219362850 C T SNP USP37 ENST00000258399 human ensembl 70_37 -1 known missense c.1056 p.M352I 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC ENSG00000135913 41 11 21.15 88 0 0.00 USP38 84640 genome.wustl.edu 37 4 144106718 144106718 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 144106718 144106718 G C SNP USP38 ENST00000307017 human ensembl 70_37 +1 known missense c.115 p.E39Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC ENSG00000170185 27 25 48.08 83 0 0.00 USP38 84640 genome.wustl.edu 37 4 144106889 144106889 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 144106889 144106889 C G SNP USP38 ENST00000307017 human ensembl 70_37 +1 known missense c.286 p.L96V 0.995 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC ENSG00000170185 65 36 35.64 81 0 0.00 USP39 10713 genome.wustl.edu 37 2 85876225 85876225 + RNA DEL T T - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 85876225 85876225 T - DEL USP39 ENST00000459775 human ensembl 70_37 +1 known rna NULL NULL 0.888 - - - no_errors USP39 HGNC ENSG00000168883 27 5 15.62 22 0 0.00 USP39 10713 genome.wustl.edu 37 2 85876361 85876361 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85876361 85876361 G C SNP USP39 ENST00000459775 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors USP39 HGNC ENSG00000168883 38 10 20.83 36 0 0.00 USP4 7375 genome.wustl.edu 37 3 49321551 49321551 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49321551 49321551 C G SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.2409 p.K803N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 39 21 34.43 70 0 0.00 USP4 7375 genome.wustl.edu 37 3 49331005 49331005 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 49331005 49331005 G A SNP USP4 ENST00000475873 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors USP4 HGNC ENSG00000114316 51 7 12.07 28 0 0.00 USP4 7375 genome.wustl.edu 37 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49349008 49349008 G C SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.775 p.L259V 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 99 19 16.10 123 0 0.00 USP4 7375 genome.wustl.edu 37 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49349008 49349008 G C SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.775 p.L259V 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 32 13 28.89 27 0 0.00 USP4 7375 genome.wustl.edu 37 3 49372952 49372952 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 49372952 49372952 C T SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.179 p.G60D 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 35 5 12.50 38 0 0.00 USP40 55230 genome.wustl.edu 37 2 234398105 234398105 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 234398105 234398105 C G SNP USP40 ENST00000450966 human ensembl 70_37 -1 known missense c.3070 p.E1024Q 0.515 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 16 7 30.43 42 0 0.00 USP40 55230 genome.wustl.edu 37 2 234429677 234429677 + Missense_Mutation SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 234429677 234429677 G C SNP USP40 ENST00000450966 human ensembl 70_37 -1 known missense c.2318 p.S773C 0.928 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 25 4 13.79 46 0 0.00 USP40 55230 genome.wustl.edu 37 2 234429739 234429740 + In_Frame_Ins INS - - TTC TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 2 234429739 234429740 - TTC INS USP40 ENST00000450966 human ensembl 70_37 -1 known in_frame_ins c.2256_2255 p.753in_frame_insK 0.067:0.070 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 26 3 10.34 40 0 0.00 USP42 84132 genome.wustl.edu 37 7 6154999 6154999 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 6154999 6154999 C G SNP USP42 ENST00000306177 human ensembl 70_37 +1 known missense c.287 p.S96C 0.979 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC ENSG00000106346 28 18 39.13 58 0 0.00 USP42 84132 genome.wustl.edu 37 7 6182606 6182606 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 6182606 6182606 C T SNP USP42 ENST00000306177 human ensembl 70_37 +1 known missense c.839 p.P280L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC ENSG00000106346 72 15 17.24 36 0 0.00 USP42 84132 genome.wustl.edu 37 7 6189273 6189273 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 6189273 6189273 G A SNP USP42 ENST00000306177 human ensembl 70_37 +1 known silent c.1446 p.S482 0.216 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC ENSG00000106346 42 18 30.00 60 0 0.00 USP42 84132 genome.wustl.edu 37 7 6189655 6189655 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 7 6189655 6189655 G A SNP USP42 ENST00000306177 human ensembl 70_37 +1 known missense c.1828 p.E610K 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC ENSG00000106346 7 4 36.36 24 0 0.00 USP43 124739 genome.wustl.edu 37 17 9549282 9549282 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 9549282 9549282 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known silent c.333 p.F111 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 59 42 41.58 57 0 0.00 USP43 124739 genome.wustl.edu 37 17 9583647 9583647 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 9583647 9583647 C G SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1069 p.Q357E 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 20 10 33.33 51 0 0.00 USP43 124739 genome.wustl.edu 37 17 9590226 9590226 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 9590226 9590226 G T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1353 p.Q451H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 25 4 13.79 32 0 0.00 USP43 124739 genome.wustl.edu 37 17 9596527 9596527 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 17 9596527 9596527 C A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known silent c.1437 p.L479 0.811 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 32 4 11.11 57 0 0.00 USP43 124739 genome.wustl.edu 37 17 9603499 9603499 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 9603499 9603499 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1468 p.L490F 0.996 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 33 24 42.11 40 0 0.00 USP43 124739 genome.wustl.edu 37 17 9604465 9604465 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 17 9604465 9604465 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1565 p.A522V 0.980 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 60 30 33.33 51 0 0.00 USP43 124739 genome.wustl.edu 37 17 9613288 9613288 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 9613288 9613288 C G SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.2027 p.S676C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 17 18 51.43 45 0 0.00 USP43 124739 genome.wustl.edu 37 17 9615324 9615324 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 17 9615324 9615324 G A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.2210 p.R737Q 0.998 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 21 4 16.00 29 0 0.00 USP43 124739 genome.wustl.edu 37 17 9632113 9632113 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 9632113 9632113 G A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.3178 p.E1060K 0.440 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 29 11 27.50 26 0 0.00 USP43 124739 genome.wustl.edu 37 17 9632171 9632171 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 9632171 9632171 C A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.3236 p.A1079D 0.209 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 44 41 48.24 31 0 0.00 USP44 84101 genome.wustl.edu 37 12 95912058 95912058 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 95912058 95912058 A G SNP USP44 ENST00000258499 human ensembl 70_37 -1 known missense c.2011 p.Y671H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP44 HGNC ENSG00000136014 21 22 51.16 42 0 0.00 USP45 85015 genome.wustl.edu 37 6 99893792 99893792 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 99893792 99893792 G A SNP USP45 ENST00000327681 human ensembl 70_37 -1 known missense c.1856 p.S619L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 29 6 17.14 22 0 0.00 USP46 64854 genome.wustl.edu 37 4 53492271 53492271 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 53492271 53492271 C G SNP USP46 ENST00000441222 human ensembl 70_37 -1 known missense c.475 p.E159Q 0.997 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP46 HGNC ENSG00000109189 67 20 22.99 133 0 0.00 USP47 55031 genome.wustl.edu 37 11 11924287 11924287 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 11924287 11924287 G C SNP USP47 ENST00000399455 human ensembl 70_37 +1 known missense c.679 p.D227H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC ENSG00000170242 99 40 28.57 118 0 0.00 USP47 55031 genome.wustl.edu 37 11 11962085 11962085 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 11 11962085 11962085 G C SNP USP47 ENST00000399455 human ensembl 70_37 +1 known missense c.2363 p.R788T 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC ENSG00000170242 6 12 66.67 27 0 0.00 USP47 55031 genome.wustl.edu 37 11 11964023 11964023 + Missense_Mutation SNP A A G TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 11964023 11964023 A G SNP USP47 ENST00000399455 human ensembl 70_37 +1 known missense c.2515 p.R839G 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC ENSG00000170242 20 3 13.04 81 0 0.00 USP48 84196 genome.wustl.edu 37 1 22021695 22021695 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 22021695 22021695 C T SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.2747 p.R916Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 33 4 10.81 40 0 0.00 USP48 84196 genome.wustl.edu 37 1 22032632 22032632 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 22032632 22032632 G A SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.2260 p.R754W 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 62 11 15.07 122 0 0.00 USP48 84196 genome.wustl.edu 37 1 22033386 22033386 + Frame_Shift_Del DEL A A - TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 1 22033386 22033386 A - DEL USP48 ENST00000529637 human ensembl 70_37 -1 novel frame_shift_del c.1975 p.S659fs 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 21 3 12.50 34 0 0.00 USP48 84196 genome.wustl.edu 37 1 22050544 22050544 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22050544 22050544 C G SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1495 p.D499H 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 49 11 18.33 25 0 0.00 USP48 84196 genome.wustl.edu 37 1 22055105 22055105 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 22055105 22055105 C T SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1408 p.E470K 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 23 196 89.50 129 0 0.00 USP48 84196 genome.wustl.edu 37 1 22055156 22055156 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 22055156 22055156 C G SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1357 p.E453Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 118 25 17.48 122 0 0.00 USP48 84196 genome.wustl.edu 37 1 22056230 22056230 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22056230 22056230 G C SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1267 p.Q423E 0.526 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 56 44 44.00 74 0 0.00 USP48 84196 genome.wustl.edu 37 1 22056234 22056234 + Silent SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 22056234 22056234 T C SNP USP48 ENST00000308271 human ensembl 70_37 -1 known silent c.1263 p.Q421 0.435 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 53 43 44.79 73 0 0.00 USP49 25862 genome.wustl.edu 37 6 41771556 41771556 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 41771556 41771556 C G SNP USP49 ENST00000373009 human ensembl 70_37 -1 known missense c.1549 p.D517H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC ENSG00000164663 82 22 20.95 60 0 0.00 USP49 25862 genome.wustl.edu 37 6 41773771 41773771 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 41773771 41773771 C G SNP USP49 ENST00000373009 human ensembl 70_37 -1 known missense c.951 p.L317F 0.002 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC ENSG00000164663 21 6 22.22 40 0 0.00 USP50 373509 genome.wustl.edu 37 15 50833424 50833424 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 50833424 50833424 G C SNP USP50 ENST00000532404 human ensembl 70_37 -1 known missense c.482 p.S161C 0.006 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP50 HGNC ENSG00000170236 32 25 43.10 33 0 0.00 USP51 158880 genome.wustl.edu 37 X 55513291 55513291 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 55513291 55513291 G C SNP USP51 ENST00000500968 human ensembl 70_37 -1 known silent c.2082 p.L694 0.997 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 24 15 38.46 40 0 0.00 USP51 158880 genome.wustl.edu 37 X 55514364 55514364 + Missense_Mutation SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 55514364 55514364 C G SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 29 6 17.14 33 0 0.00 USP51 158880 genome.wustl.edu 37 X 55514409 55514409 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 55514409 55514409 G A SNP USP51 ENST00000500968 human ensembl 70_37 -1 known nonsense c.964 p.Q322* 0.871 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 18 7 28.00 39 0 0.00 USP51 158880 genome.wustl.edu 37 X 55514414 55514414 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 55514414 55514414 G A SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.959 p.S320F 0.732 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 15 10 40.00 35 0 0.00 USP51 158880 genome.wustl.edu 37 X 55514505 55514505 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 55514505 55514505 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.868 p.D290N 1.000 pfam_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 20 5 20.00 35 0 0.00 USP51 158880 genome.wustl.edu 37 X 55515182 55515182 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 55515182 55515182 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.191 p.R64H 0.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 73 50 40.32 121 1 0.82 USP51 158880 genome.wustl.edu 37 X 55515232 55515232 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 55515232 55515232 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known silent c.141 p.A47 0.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 63 19 23.17 130 0 0.00 USP53 54532 genome.wustl.edu 37 4 120169975 120169975 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 120169975 120169975 G A SNP USP53 ENST00000274030 human ensembl 70_37 +1 known missense c.310 p.E104K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 150 34 18.48 193 0 0.00 USP53 54532 genome.wustl.edu 37 4 120188514 120188514 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 120188514 120188514 C T SNP USP53 ENST00000274030 human ensembl 70_37 +1 known nonsense c.1012 p.R338* 0.947 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 26 13 33.33 46 0 0.00 USP53 54532 genome.wustl.edu 37 4 120192585 120192585 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 120192585 120192585 C T SNP USP53 ENST00000274030 human ensembl 70_37 +1 known nonsense c.1570 p.Q524* 0.300 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 22 4 15.38 16 0 0.00 USP53 54532 genome.wustl.edu 37 4 120192932 120192932 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 120192932 120192932 G A SNP USP53 ENST00000274030 human ensembl 70_37 +1 known missense c.1917 p.M639I 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 72 16 18.18 89 0 0.00 USP54 159195 genome.wustl.edu 37 10 75258749 75258749 + Nonsense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 10 75258749 75258749 G A SNP USP54 ENST00000339859 human ensembl 70_37 -1 known nonsense c.4693 p.Q1565* 0.999 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 127 86 40.38 355 0 0.00 USP54 159195 genome.wustl.edu 37 10 75277079 75277079 + Silent SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 10 75277079 75277079 G A SNP USP54 ENST00000339859 human ensembl 70_37 -1 known silent c.3105 p.P1035 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 49 8 14.04 39 0 0.00 USP54 159195 genome.wustl.edu 37 10 75277284 75277284 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 75277284 75277284 G C SNP USP54 ENST00000339859 human ensembl 70_37 -1 known missense c.2900 p.S967C 0.981 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 23 24 51.06 61 0 0.00 USP54 159195 genome.wustl.edu 37 10 75277418 75277418 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75277418 75277418 G T SNP USP54 ENST00000339859 human ensembl 70_37 -1 known missense c.2766 p.F922L 0.784 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 36 17 32.08 38 0 0.00 USP6 9098 genome.wustl.edu 37 17 5032143 5032143 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 5032143 5032143 C T SNP USP6 ENST00000572429 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors USP6 HGNC ENSG00000129204 46 38 45.24 78 0 0.00 USP6 9098 genome.wustl.edu 37 17 5037191 5037191 + Nonsense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 5037191 5037191 G T SNP USP6 ENST00000250066 human ensembl 70_37 +1 known nonsense c.394 p.E132* 0.941 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 76 29 27.62 193 0 0.00 USP6 9098 genome.wustl.edu 37 17 5042423 5042423 + Missense_Mutation SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 5042423 5042423 T C SNP USP6 ENST00000304328 human ensembl 70_37 +1 known missense c.74 p.V25A 0.024 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 52 23 30.67 86 0 0.00 USP6 9098 genome.wustl.edu 37 17 5045313 5045313 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 5045313 5045313 G T SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.1589 p.G530V 1.000 pfam_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 102 14 12.07 134 1 0.74 USP6 9098 genome.wustl.edu 37 17 5072095 5072095 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 5072095 5072095 G C SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.3262 p.D1088H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 39 64 62.14 173 0 0.00 USP6 9098 genome.wustl.edu 37 17 5076112 5076112 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5076112 5076112 G C SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.4060 p.D1354H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 86 27 23.89 143 0 0.00 USP6NL 9712 genome.wustl.edu 37 10 11505563 11505563 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 11505563 11505563 G A SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.1415 p.S472L 0.003 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 35 20 36.36 83 0 0.00 USP6NL 9712 genome.wustl.edu 37 10 11523855 11523855 + Missense_Mutation SNP A A T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11523855 11523855 A T SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.1043 p.F348Y 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 10 5 33.33 17 0 0.00 USP6NL 9712 genome.wustl.edu 37 10 11567450 11567450 + Missense_Mutation SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 11567450 11567450 C G SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.141 p.E47D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 23 13 36.11 32 0 0.00 USP7 7874 genome.wustl.edu 37 16 8993571 8993571 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 8993571 8993571 C T SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.2353 p.E785K 1.000 NULL pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 20 12 37.50 57 0 0.00 USP7 7874 genome.wustl.edu 37 16 9002295 9002295 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 9002295 9002295 C T SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.1174 p.G392S 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 23 5 17.86 62 0 0.00 USP7 7874 genome.wustl.edu 37 16 9017100 9017100 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 9017100 9017100 G C SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.355 p.L119V 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 62 22 25.88 68 0 0.00 USP7 7874 genome.wustl.edu 37 16 9024213 9024213 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 9024213 9024213 C A SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.121 p.V41L 1.000 NULL pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 60 29 32.58 83 0 0.00 USP8 9101 genome.wustl.edu 37 15 50741664 50741664 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 50741664 50741664 C G SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.317 p.S106C 1.000 pfam_DUF1873 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 14 2 12.50 17 0 0.00 USP8 9101 genome.wustl.edu 37 15 50751336 50751336 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 50751336 50751336 G C SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.475 p.D159H 0.993 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 10 15 60.00 14 0 0.00 USP8 9101 genome.wustl.edu 37 15 50776513 50776513 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 50776513 50776513 G A SNP USP8 ENST00000307179 human ensembl 70_37 +1 known silent c.1845 p.R615 0.999 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 17 14 45.16 46 0 0.00 USP8 9101 genome.wustl.edu 37 15 50782647 50782647 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 50782647 50782647 C A SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2159 p.P720Q 1.000 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 177 25 12.38 229 0 0.00 USP8 9101 genome.wustl.edu 37 15 50785054 50785054 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 50785054 50785054 C T SNP USP8 ENST00000307179 human ensembl 70_37 +1 known silent c.2391 p.N797 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 35 4 10.26 29 0 0.00 USP8 9101 genome.wustl.edu 37 15 50786321 50786321 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 50786321 50786321 G T SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2502 p.M834I 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 17 11 39.29 26 0 0.00 USP8 9101 genome.wustl.edu 37 15 50788052 50788052 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 50788052 50788052 A C SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2666 p.N889T 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 18 4 18.18 19 0 0.00 USP9X 8239 genome.wustl.edu 37 X 40999952 40999952 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 40999952 40999952 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.698 p.G233E 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 49 12 19.67 69 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41029361 41029361 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 41029361 41029361 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.2750 p.R917Q 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 40 6 13.04 82 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41043695 41043695 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 41043695 41043695 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.3325 p.D1109N 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 37 19 33.93 79 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41047349 41047350 + Frame_Shift_Ins INS - - TT TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 41047349 41047350 - TT INS USP9X ENST00000324545 human ensembl 70_37 +1 known frame_shift_ins c.3789_3790 p.I1263fs 0.998:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 29 4 12.12 59 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41055534 41055534 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 41055534 41055534 C A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.4008 p.F1336L 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 25 18 41.86 98 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41055965 41055965 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 41055965 41055965 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.4207 p.E1403K 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 31 17 35.42 35 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41075524 41075524 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 41075524 41075524 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.5704 p.D1902N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 52 10 16.13 36 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41077746 41077746 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 41077746 41077746 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.6331 p.E2111K 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 198 79 28.52 265 0 0.00 USP9X 8239 genome.wustl.edu 37 X 41089034 41089035 + Frame_Shift_Ins INS - - A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 41089034 41089035 - A INS USP9X ENST00000324545 human ensembl 70_37 +1 known frame_shift_ins c.7433_7434 p.A2481fs 1.000:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 74 13 14.94 101 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31205020 31205020 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 31205020 31205020 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.277 p.D93N 0.955 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 16 7 30.43 43 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 98 49 33.33 189 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 47 11 18.97 47 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 33 17 34.00 55 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31221109 31221109 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 31221109 31221109 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.1153 p.E385K 1.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 44 14 24.14 48 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31227300 31227300 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 31227300 31227300 C T SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.1254 p.F418 0.998 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 64 24 27.27 70 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31232305 31232305 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 31232305 31232305 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.2091 p.E697 0.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 14 7 33.33 31 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31232650 31232650 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 31232650 31232650 C A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.2436 p.S812 0.050 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 35 4 10.26 39 0 0.00 USPL1 10208 genome.wustl.edu 37 13 31232866 31232866 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 31232866 31232866 G C SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.2652 p.Q884H 0.996 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 22 16 42.11 32 0 0.00 UST 10090 genome.wustl.edu 37 6 149340342 149340342 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 149340342 149340342 C A SNP UST ENST00000367463 human ensembl 70_37 +1 known missense c.749 p.P250Q 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase - no_errors UST HGNC ENSG00000111962 26 3 10.34 54 0 0.00 UTP11L 51118 genome.wustl.edu 37 1 38484134 38484134 + Splice_Site SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 38484134 38484134 A G SNP UTP11L ENST00000373014 human ensembl 70_37 +1 known splice_site c.229-2 e4-2 0.999 - - - no_errors UTP11L HGNC ENSG00000183520 35 4 10.26 63 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129041400 129041400 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 129041400 129041400 G A SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known silent c.84 p.L28 0.001 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 100 24 19.35 78 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129042055 129042055 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 129042055 129042055 G C SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.122 p.R41T 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 83 27 24.55 110 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129042083 129042083 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 129042083 129042083 C T SNP UTP14A ENST00000371051 human ensembl 70_37 +1 known missense c.53 p.S18L 0.771 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 82 27 24.77 77 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129047355 129047355 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 129047355 129047355 G C SNP UTP14A ENST00000371042 human ensembl 70_37 +1 known missense c.17 p.R6T 0.814 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 24 10 29.41 62 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129055461 129055461 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 129055461 129055461 G C SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.1246 p.E416Q 0.023 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 4 21 84.00 21 0 0.00 UTP14A 10813 genome.wustl.edu 37 X 129059022 129059022 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 129059022 129059022 G A SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.1600 p.E534K 0.016 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 26 3 10.34 40 0 0.00 UTP14C 9724 genome.wustl.edu 37 13 52604690 52604690 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 52604690 52604690 G C SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1750 p.D584H 0.985 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 77 20 20.62 79 0 0.00 UTP14C 9724 genome.wustl.edu 37 13 52604768 52604768 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52604768 52604768 G C SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1828 p.E610Q 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 70 23 24.73 95 0 0.00 UTP14C 9724 genome.wustl.edu 37 13 52604876 52604876 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 52604876 52604876 C T SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1936 p.R646C 0.953 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 79 26 24.76 95 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101674919 101674919 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101674919 101674919 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.71 p.G24E 0.998 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 22 8 26.67 66 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101683923 101683924 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101683923 101683924 - A INS UTP20 ENST00000261637 human ensembl 70_37 +1 known frame_shift_ins c.606_607 p.N203fs 1.000:1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 32 5 13.51 46 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101684594 101684594 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 101684594 101684594 C G SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known silent c.819 p.L273 0.356 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 25 16 39.02 85 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101711383 101711383 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 101711383 101711383 G C SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.2680 p.E894Q 0.895 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 27 10 27.03 40 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101748657 101748657 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 101748657 101748657 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.5155 p.E1719K 0.092 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 70 10 12.50 81 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101759307 101759307 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 12 101759307 101759307 G C SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.6029 p.G2010A 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 30 21 41.18 19 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101760358 101760358 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 101760358 101760358 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.6148 p.D2050N 0.999 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 43 15 25.86 53 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101769493 101769493 + Missense_Mutation SNP T T G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 101769493 101769493 T G SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.7355 p.I2452S 0.976 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 14 3 17.65 58 0 0.00 UTP20 27340 genome.wustl.edu 37 12 101769513 101769513 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 101769513 101769513 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.7375 p.E2459K 0.519 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 36 18 33.33 64 0 0.00 UTP23 84294 genome.wustl.edu 37 8 117861161 117861161 + Missense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 117861161 117861161 C A SNP UTP23 ENST00000517820 human ensembl 70_37 +1 putative missense c.223 p.P75T 0.000 NULL NULL - no_errors UTP23 HGNC ENSG00000147679 45 18 28.57 20 0 0.00 UTP3 57050 genome.wustl.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 71554620 71554622 GAG - DEL UTP3 ENST00000254803 human ensembl 70_37 +1 known in_frame_del c.226_228 p.E79in_frame_del 0.044:0.001:0.001 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 19 3 13.64 31 0 0.00 UTP3 57050 genome.wustl.edu 37 4 71554691 71554693 + In_Frame_Del DEL GGA GGA - TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 4 71554691 71554693 GGA - DEL UTP3 ENST00000254803 human ensembl 70_37 +1 known in_frame_del c.297_299 p.E103in_frame_del 0.002:0.002:0.002 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 37 5 11.90 41 0 0.00 UTP6 55813 genome.wustl.edu 37 17 30228608 30228608 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 30228608 30228608 G A SNP UTP6 ENST00000261708 human ensembl 70_37 -1 known silent c.39 p.L13 0.988 pfam_U3_snoRNA_assoc-6 pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 33 23 41.07 40 0 0.00 UTRN 7402 genome.wustl.edu 37 6 144724303 144724303 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 144724303 144724303 A C SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.124 p.N42H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 10 4 28.57 18 0 0.00 UTRN 7402 genome.wustl.edu 37 6 144783982 144783982 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 144783982 144783982 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.3046 p.L1016F 0.095 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 24 10 29.41 47 0 0.00 UTRN 7402 genome.wustl.edu 37 6 144875962 144875962 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 144875962 144875962 A G SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7067 p.E2356G 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 58 7 10.77 75 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145051606 145051606 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 6 145051606 145051606 C G SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7923 p.N2641K 0.908 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 13 4 23.53 25 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145069393 145069393 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 145069393 145069393 G A SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7951 p.E2651K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 7 11 61.11 23 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145079123 145079123 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 145079123 145079123 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known silent c.8493 p.I2831 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 43 15 25.86 55 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145079201 145079201 + RNA SNP C C A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 145079201 145079201 C A SNP UTRN ENST00000480333 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UTRN HGNC ENSG00000152818 14 3 17.65 30 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145093095 145093095 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 145093095 145093095 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known nonsense c.8548 p.Q2850* 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 12 21 63.64 72 0 0.00 UTRN 7402 genome.wustl.edu 37 6 145148812 145148812 + Frame_Shift_Del DEL G G - TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 145148812 145148812 G - DEL UTRN ENST00000367545 human ensembl 70_37 +1 known frame_shift_del c.9599 p.R3200fs 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 10 2 16.67 54 0 0.00 UTS2 10911 genome.wustl.edu 37 1 7906777 7906777 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 1 7906777 7906777 G T SNP UTS2 ENST00000377516 human ensembl 70_37 -1 putative silent c.387 p.G129 0.001 NULL NULL - no_errors UTS2 HGNC ENSG00000049247 31 4 11.43 40 0 0.00 UTS2B 257313 genome.wustl.edu 37 3 190993043 190993043 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 190993043 190993043 C A SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.332 p.R111L 0.965 NULL NULL - no_errors UTS2D HGNC ENSG00000188958 52 16 23.53 39 0 0.00 UTS2B 257313 genome.wustl.edu 37 3 190995868 190995868 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 190995868 190995868 G A SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known silent c.195 p.F65 0.000 NULL NULL - no_errors UTS2D HGNC ENSG00000188958 38 7 15.56 38 0 0.00 UTS2B 257313 genome.wustl.edu 37 3 190999976 190999976 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 190999976 190999976 C T SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.3 p.M1I 0.605 NULL NULL - no_errors UTS2D HGNC ENSG00000188958 205 61 22.76 30 0 0.00 UTS2B 257313 genome.wustl.edu 37 3 190999976 190999976 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 190999976 190999976 C T SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.3 p.M1I 0.605 NULL NULL - no_errors UTS2D HGNC ENSG00000188958 84 22 20.75 26 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75591011 75591011 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 75591011 75591011 G A SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.359 p.G120E 1.000 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 267 74 21.70 370 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75591018 75591018 + Frame_Shift_Del DEL G G - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 75591018 75591018 G - DEL UVRAG ENST00000356136 human ensembl 70_37 +1 known frame_shift_del c.366 p.N123fs 0.998 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 287 58 16.81 372 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75672544 75672544 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 75672544 75672544 G A SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.650 p.G217E 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 75 16 17.58 95 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75727906 75727906 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 75727906 75727906 C G SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.1108 p.L370V 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 31 25 44.64 62 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75727987 75727987 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 75727987 75727987 G C SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.1189 p.D397H 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 101 14 12.17 102 0 0.00 UVRAG 7405 genome.wustl.edu 37 11 75776812 75776812 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 75776812 75776812 C T SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known silent c.1285 p.L429 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 75 27 26.47 71 0 0.00 UVSSA 57654 genome.wustl.edu 37 4 1377703 1377703 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 1377703 1377703 C T SNP UVSSA ENST00000389851 human ensembl 70_37 +1 known missense c.2011 p.R671C 0.778 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 84 11 11.58 154 0 0.00 UXS1 80146 genome.wustl.edu 37 2 106710565 106710565 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 106710565 106710565 C T SNP UXS1 ENST00000283148 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 NULL pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 7 6 46.15 11 0 0.00 UXS1 80146 genome.wustl.edu 37 2 106782514 106782514 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 106782514 106782514 C T SNP UXS1 ENST00000283148 human ensembl 70_37 -1 known missense c.120 p.M40I 1.000 pfam_UXS1_N pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 43 5 10.42 54 0 0.00 UXT 8409 genome.wustl.edu 37 X 47511528 47511528 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47511528 47511528 G A SNP UXT ENST00000335890 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC ENSG00000126756 31 8 20.51 64 0 0.00 UXT 8409 genome.wustl.edu 37 X 47516583 47516583 + Nonsense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47516583 47516583 C A SNP UXT ENST00000335890 human ensembl 70_37 -1 known nonsense c.391 p.E131* 0.999 pfam_Prefoldin_subunit,superfamily_Prefoldin pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC ENSG00000126756 34 4 10.53 47 0 0.00 UXT 8409 genome.wustl.edu 37 X 47516607 47516607 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47516607 47516607 C G SNP UXT ENST00000335890 human ensembl 70_37 -1 known missense c.367 p.D123H 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC ENSG00000126756 45 5 10.00 47 0 0.00 UXT 8409 genome.wustl.edu 37 X 47518369 47518369 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 47518369 47518369 C T SNP UXT ENST00000485641 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors UXT HGNC ENSG00000126756 19 13 40.62 32 0 0.00 UXT 8409 genome.wustl.edu 37 X 47518369 47518369 + RNA SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 X 47518369 47518369 C T SNP UXT ENST00000485641 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors UXT HGNC ENSG00000126756 25 16 39.02 21 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70726824 70726824 + Missense_Mutation SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 70726824 70726824 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.2086 p.A696P 1.000 pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 19 18 48.65 41 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70765414 70765414 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 70765414 70765414 C T SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1645 p.G549S 1.000 pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 38 8 17.39 41 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70765451 70765451 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70765451 70765451 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1608 p.K536N 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 37 14 27.45 40 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70796924 70796924 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70796924 70796924 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1165 p.E389Q 0.981 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 33 23 41.07 75 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70817361 70817361 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70817361 70817361 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.691 p.E231Q 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 33 18 35.29 49 0 0.00 VAC14 55697 genome.wustl.edu 37 16 70834762 70834762 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 70834762 70834762 G A SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known silent c.42 p.I14 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 63 61 49.19 104 0 0.00 VAMP1 6843 genome.wustl.edu 37 12 6579755 6579755 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6579755 6579755 G A SNP VAMP1 ENST00000535927 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors VAMP1 HGNC ENSG00000139190 55 18 24.66 69 0 0.00 VAMP5 10791 genome.wustl.edu 37 2 85818882 85818882 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85818882 85818882 C T SNP VAMP5 ENST00000306384 human ensembl 70_37 +1 known missense c.38 p.A13V 0.980 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP5 HGNC ENSG00000168899 18 14 42.42 37 0 0.00 VAMP5 10791 genome.wustl.edu 37 2 85820264 85820264 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85820264 85820264 C G SNP VAMP5 ENST00000306384 human ensembl 70_37 +1 known nonsense c.335 p.S112* 0.050 NULL pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP5 HGNC ENSG00000168899 82 19 18.81 100 0 0.00 VANGL2 57216 genome.wustl.edu 37 1 160390959 160390959 + Missense_Mutation SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 160390959 160390959 T C SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known missense c.1055 p.V352A 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 63 27 29.35 48 0 0.00 VANGL2 57216 genome.wustl.edu 37 1 160393995 160393995 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 160393995 160393995 C T SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known silent c.1227 p.T409 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 49 40 44.94 65 0 0.00 VANGL2 57216 genome.wustl.edu 37 1 160395021 160395021 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 160395021 160395021 G A SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known silent c.1419 p.K473 0.978 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 27 23 46.00 38 0 0.00 VAPB 9217 genome.wustl.edu 37 20 56965216 56965216 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 56965216 56965216 C G SNP VAPB ENST00000265619 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors VAPB HGNC ENSG00000124164 33 19 36.54 27 0 0.00 VAPB 9217 genome.wustl.edu 37 20 57019856 57019856 + RNA SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 20 57019856 57019856 C T SNP VAPB ENST00000265619 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors VAPB HGNC ENSG00000124164 16 23 58.97 12 0 0.00 VARS 7407 genome.wustl.edu 37 6 31746941 31746941 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 31746941 31746941 C T SNP VARS ENST00000375663 human ensembl 70_37 -1 known missense c.3529 p.A1177T 1.000 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 16 7 30.43 18 0 0.00 VARS 7407 genome.wustl.edu 37 6 31749935 31749935 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31749935 31749935 G A SNP VARS ENST00000375663 human ensembl 70_37 -1 known nonsense c.2170 p.Q724* 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 56 21 27.27 46 0 0.00 VARS2 57176 genome.wustl.edu 37 6 30882090 30882090 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 30882090 30882090 G C SNP VARS2 ENST00000467717 human ensembl 70_37 +1 known rna NULL NULL 0.314 - - - no_errors VARS2 HGNC ENSG00000137411 40 9 18.37 25 0 0.00 VARS2 57176 genome.wustl.edu 37 6 30889913 30889913 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30889913 30889913 C G SNP VARS2 ENST00000541562 human ensembl 70_37 +1 known missense c.1917 p.F639L 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 156 47 23.15 242 0 0.00 VASH1 22846 genome.wustl.edu 37 14 77242382 77242382 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 77242382 77242382 G C SNP VASH1 ENST00000167106 human ensembl 70_37 +1 known silent c.678 p.L226 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 42 36 46.15 69 0 0.00 VASH2 79805 genome.wustl.edu 37 1 213125052 213125052 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 213125052 213125052 C T SNP VASH2 ENST00000517399 human ensembl 70_37 +1 known silent c.168 p.F56 1.000 NULL NULL - no_errors VASH2 HGNC ENSG00000143494 17 15 46.88 11 0 0.00 VASN 114990 genome.wustl.edu 37 16 4431256 4431256 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 4431256 4431256 C T SNP VASN ENST00000304735 human ensembl 70_37 +1 known silent c.378 p.L126 0.058 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 94 48 33.80 62 0 0.00 VASN 114990 genome.wustl.edu 37 16 4432189 4432189 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 4432189 4432189 G A SNP VASN ENST00000304735 human ensembl 70_37 +1 known silent c.1311 p.T437 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 14 4 22.22 13 0 0.00 VASP 7408 genome.wustl.edu 37 19 46026015 46026015 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 46026015 46026015 G A SNP VASP ENST00000245932 human ensembl 70_37 +1 known missense c.760 p.E254K 0.998 pirsf_Vasodilator_phosphoprotein pirsf_Vasodilator_phosphoprotein,pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors VASP HGNC ENSG00000125753 34 7 17.07 31 0 0.00 VAV1 7409 genome.wustl.edu 37 19 6821677 6821677 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 6821677 6821677 G C SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known missense c.366 p.Q122H 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 44 10 18.52 42 0 0.00 VAV1 7409 genome.wustl.edu 37 19 6828096 6828096 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 6828096 6828096 C T SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known nonsense c.937 p.Q313* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 38 7 15.56 37 0 0.00 VAV1 7409 genome.wustl.edu 37 19 6828465 6828465 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 6828465 6828465 G A SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known silent c.1059 p.K353 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 50 37 42.53 83 0 0.00 VAV2 7410 genome.wustl.edu 37 9 136641167 136641167 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136641167 136641167 G T SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.2001 p.D667E 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 34 16 32.00 80 0 0.00 VAV2 7410 genome.wustl.edu 37 9 136649441 136649441 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 136649441 136649441 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known silent c.1632 p.L544 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 78 51 39.53 96 0 0.00 VAV2 7410 genome.wustl.edu 37 9 136652376 136652376 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 136652376 136652376 C T SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.1414 p.G472R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 49 26 34.67 76 0 0.00 VAV2 7410 genome.wustl.edu 37 9 136857230 136857230 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136857230 136857230 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known silent c.171 p.L57 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 5 11 68.75 22 0 0.00 VAV2 7410 genome.wustl.edu 37 9 136857321 136857321 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136857321 136857321 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.80 p.S27W 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 9 13 59.09 13 0 0.00 VAV3 10451 genome.wustl.edu 37 1 108115882 108115882 + RNA SNP C C G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 1 108115882 108115882 C G SNP VAV3 ENST00000343258 human ensembl 70_37 -1 known rna NULL NULL 0.722 - - - no_errors VAV3 HGNC ENSG00000134215 62 7 10.14 70 0 0.00 VAV3 10451 genome.wustl.edu 37 1 108116734 108116734 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 108116734 108116734 C G SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.2437 p.D813H 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 69 33 32.35 81 0 0.00 VAV3 10451 genome.wustl.edu 37 1 108292200 108292200 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 108292200 108292200 C G SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.1276 p.D426H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 30 15 33.33 26 0 0.00 VAV3 10451 genome.wustl.edu 37 1 108315446 108315446 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 1 108315446 108315446 C T SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 62 20 24.39 82 0 0.00 VAX1 11023 genome.wustl.edu 37 10 118891763 118891763 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 118891763 118891763 G C SNP VAX1 ENST00000277905 human ensembl 70_37 -1 known missense c.518 p.S173C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VAX1 HGNC ENSG00000148704 36 6 14.29 38 0 0.00 VAX2 25806 genome.wustl.edu 37 2 71160168 71160168 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 71160168 71160168 C T SNP VAX2 ENST00000234392 human ensembl 70_37 +1 known missense c.707 p.S236L 0.824 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 42 7 14.29 56 0 0.00 VCAM1 7412 genome.wustl.edu 37 1 101186190 101186190 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 101186190 101186190 G T SNP VCAM1 ENST00000294728 human ensembl 70_37 +1 known missense c.223 p.G75W 0.977 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 31 4 11.43 50 0 0.00 VCAM1 7412 genome.wustl.edu 37 1 101188842 101188842 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 101188842 101188842 G C SNP VCAM1 ENST00000294728 human ensembl 70_37 +1 known missense c.607 p.E203Q 0.075 pfam_Ig_C2-set pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 14 6 30.00 30 0 0.00 VCAM1 7412 genome.wustl.edu 37 1 101194865 101194865 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 101194865 101194865 C T SNP VCAM1 ENST00000294728 human ensembl 70_37 +1 known silent c.1131 p.N377 0.235 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 35 26 42.62 60 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82785938 82785938 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 82785938 82785938 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.92 p.P31L 0.900 pfam_Ig_V-set,smart_Ig_sub pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 14 17 54.84 35 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82789643 82789643 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 82789643 82789643 G C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.641 p.R214T 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 28 4 12.50 26 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82807996 82807996 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 82807996 82807996 G T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.823 p.A275S 0.003 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 36 18 33.33 37 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82815884 82815884 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82815884 82815884 G T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known nonsense c.1759 p.E587* 0.993 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 5 5 50.00 12 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82817006 82817006 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82817006 82817006 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.2881 p.Q961E 0.990 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 21 14 40.00 26 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82817176 82817176 + Silent SNP T T G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 5 82817176 82817176 T G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known silent c.3051 p.S1017 0.002 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 5 21 80.77 27 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82818048 82818048 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 82818048 82818048 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.3923 p.S1308C 0.760 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 13 4 23.53 26 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82818048 82818048 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 82818048 82818048 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.3923 p.S1308C 0.760 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 5 3 37.50 26 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82832806 82832806 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 82832806 82832806 G A SNP VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VCAN HGNC ENSG00000038427 40 11 21.57 43 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82833083 82833083 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 82833083 82833083 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.4261 p.P1421S 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 9 3 25.00 24 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82834583 82834583 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82834583 82834583 A C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.5761 p.I1921L 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 11 6 35.29 19 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82834631 82834631 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 82834631 82834631 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.5809 p.D1937N 0.998 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 29 11 27.50 23 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82836182 82836182 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82836182 82836182 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.7360 p.E2454K 0.027 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 22 9 28.12 36 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82836731 82836731 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 82836731 82836731 G C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.7909 p.E2637Q 0.278 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 42 16 27.59 78 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82837569 82837569 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 82837569 82837569 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.8747 p.S2916F 0.162 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 29 8 21.62 37 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82849188 82849188 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82849188 82849188 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.9499 p.E3167K 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 27 21 43.75 86 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82849201 82849201 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 82849201 82849201 A G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.9512 p.Y3171C 0.986 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 61 14 18.67 75 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82876341 82876341 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 5 82876341 82876341 C T SNP VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors VCAN HGNC ENSG00000038427 27 9 25.00 53 0 0.00 VCAN 1462 genome.wustl.edu 37 5 82876847 82876847 + RNA DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 82876847 82876847 G - DEL VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors VCAN HGNC ENSG00000038427 14 2 12.50 74 0 0.00 VCL 7414 genome.wustl.edu 37 10 75757941 75757941 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 10 75757941 75757941 G A SNP VCL ENST00000478896 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VCL HGNC ENSG00000035403 34 58 63.04 96 0 0.00 VCL 7414 genome.wustl.edu 37 10 75834509 75834510 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 75834509 75834510 - T INS VCL ENST00000211998 human ensembl 70_37 +1 known frame_shift_ins c.631_632 p.V213fs 1.000:1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 11 4 26.67 35 0 0.00 VCL 7414 genome.wustl.edu 37 10 75834615 75834615 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 75834615 75834615 G A SNP VCL ENST00000211998 human ensembl 70_37 +1 known missense c.737 p.R246H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 19 16 45.71 46 0 0.00 VCL 7414 genome.wustl.edu 37 10 75857001 75857001 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 75857001 75857001 G T SNP VCL ENST00000211998 human ensembl 70_37 +1 known missense c.1783 p.V595L 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 13 3 18.75 37 0 0.00 VCP 7415 genome.wustl.edu 37 9 35064274 35064274 + Missense_Mutation SNP T T A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 9 35064274 35064274 T A SNP VCP ENST00000358901 human ensembl 70_37 -1 known missense c.585 p.E195D 1.000 tigrfam_ATPase_AAA_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48 - no_errors VCP HGNC ENSG00000165280 36 7 16.28 80 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67547485 67547485 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 67547485 67547485 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.2920 p.D974H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 12 14 53.85 29 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67547564 67547564 + Silent SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 67547564 67547564 G T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known silent c.2841 p.G947 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 34 4 10.53 29 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67576721 67576721 + Nonsense_Mutation SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 8 67576721 67576721 C A SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known nonsense c.2473 p.E825* 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 25 8 24.24 23 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67577840 67577840 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 67577840 67577840 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1354 p.E452Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 30 8 21.05 48 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67577872 67577872 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 67577872 67577872 C T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1322 p.R441K 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 161 49 23.22 220 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67577894 67577894 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 67577894 67577894 C T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1300 p.D434N 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 159 47 22.82 217 0 0.00 VCPIP1 80124 genome.wustl.edu 37 8 67579043 67579043 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 67579043 67579043 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.151 p.D51H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 22 11 33.33 21 0 0.00 VCX3A 51481 genome.wustl.edu 37 X 6451978 6451978 + Silent SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 6451978 6451978 T C SNP VCX3A ENST00000381089 human ensembl 70_37 -1 known silent c.369 p.P123 0.001 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 13 3 18.75 42 0 0.00 VCX3B 425054 genome.wustl.edu 37 X 8434034 8434034 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 8434034 8434034 G C SNP VCX3B ENST00000444481 human ensembl 70_37 +1 known missense c.351 p.E117D 0.001 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 45 19 29.69 46 0 0.00 VCX3B 425054 genome.wustl.edu 37 X 8434154 8434154 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 8434154 8434154 G C SNP VCX3B ENST00000453306 human ensembl 70_37 +1 known missense c.471 p.E157D 0.012 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 246 132 34.92 212 0 0.00 VCX3B 425054 genome.wustl.edu 37 X 8434329 8434329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 8434329 8434329 C T SNP VCX3B ENST00000444481 human ensembl 70_37 +1 known nonsense c.556 p.Q186* 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 301 41 11.99 230 0 0.00 VDAC1 7416 genome.wustl.edu 37 5 133316707 133316708 + RNA INS - - T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 133316707 133316708 - T INS VDAC1 ENST00000492324 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 20 4 16.67 24 0 0.00 VDAC1 7416 genome.wustl.edu 37 5 133326815 133326815 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 133326815 133326815 C G SNP VDAC1 ENST00000265333 human ensembl 70_37 -1 known missense c.148 p.E50Q 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 32 29 47.54 75 0 0.00 VDAC2 7417 genome.wustl.edu 37 10 76979068 76979068 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 76979068 76979068 C T SNP VDAC2 ENST00000313132 human ensembl 70_37 +1 known nonsense c.355 p.Q119* 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC2 HGNC ENSG00000165637 34 11 24.44 63 0 0.00 VDAC3 7419 genome.wustl.edu 37 8 42256271 42256271 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 42256271 42256271 A G SNP VDAC3 ENST00000392935 human ensembl 70_37 +1 known silent c.162 p.K54 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 45 17 26.56 49 0 0.00 VDAC3 7419 genome.wustl.edu 37 8 42256271 42256271 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 42256271 42256271 A G SNP VDAC3 ENST00000392935 human ensembl 70_37 +1 known silent c.162 p.K54 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 66 26 28.26 121 0 0.00 VDR 7421 genome.wustl.edu 37 12 48251431 48251431 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 48251431 48251431 C T SNP VDR ENST00000229022 human ensembl 70_37 -1 known missense c.318 p.M106I 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 6 18 75.00 67 0 0.00 VEGFA 7422 genome.wustl.edu 37 6 43745289 43745289 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43745289 43745289 G A SNP VEGFA ENST00000372055 human ensembl 70_37 +1 known missense c.742 p.E248K 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFA HGNC ENSG00000112715 25 14 35.90 35 0 0.00 VEGFB 7423 genome.wustl.edu 37 11 64003440 64003440 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 11 64003440 64003440 C T SNP VEGFB ENST00000309422 human ensembl 70_37 +1 known silent c.259 p.L87 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFB HGNC ENSG00000173511 24 14 36.84 41 0 0.00 VEGFC 7424 genome.wustl.edu 37 4 177605154 177605154 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 177605154 177605154 C T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.1186 p.E396K 1.000 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 70 11 13.58 103 0 0.00 VEGFC 7424 genome.wustl.edu 37 4 177648970 177648970 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 177648970 177648970 G T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.514 p.Q172K 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 13 5 27.78 55 0 0.00 VEGFC 7424 genome.wustl.edu 37 4 177713327 177713327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 177713327 177713327 C G SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.139 p.E47Q 0.963 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 62 33 34.74 101 0 0.00 VEGFC 7424 genome.wustl.edu 37 4 177713327 177713327 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 177713327 177713327 C T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.139 p.E47K 0.963 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 49 15 23.44 69 0 0.00 VEGFC 7424 genome.wustl.edu 37 4 177713352 177713352 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 177713352 177713352 G A SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known silent c.114 p.L38 0.857 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 66 19 22.35 96 0 0.00 VENTX 27287 genome.wustl.edu 37 10 135051484 135051484 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 10 135051484 135051484 G T SNP VENTX ENST00000325980 human ensembl 70_37 +1 known missense c.66 p.W22C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VENTX HGNC ENSG00000151650 7 4 36.36 13 0 0.00 VEPH1 79674 genome.wustl.edu 37 3 157081331 157081331 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 157081331 157081331 C G SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.1557 p.E519D 0.026 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 180 59 24.58 250 0 0.00 VEPH1 79674 genome.wustl.edu 37 3 157146182 157146182 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 157146182 157146182 G C SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.625 p.Q209E 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 60 51 45.95 97 0 0.00 VEPH1 79674 genome.wustl.edu 37 3 157206875 157206875 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 157206875 157206875 C T SNP VEPH1 ENST00000483440 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors VEPH1 HGNC ENSG00000197415 29 12 29.27 49 0 0.00 VEPH1 79674 genome.wustl.edu 37 3 157213060 157213060 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 157213060 157213060 C T SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 66 12 15.38 47 0 0.00 VEPH1 79674 genome.wustl.edu 37 3 157213148 157213148 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 157213148 157213148 G A SNP VEPH1 ENST00000483440 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VEPH1 HGNC ENSG00000197415 137 17 11.04 79 0 0.00 VEZT 55591 genome.wustl.edu 37 12 95663916 95663916 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 95663916 95663916 G C SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.800 p.R267T 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 45 6 11.76 63 0 0.00 VEZT 55591 genome.wustl.edu 37 12 95676223 95676223 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 12 95676223 95676223 G A SNP VEZT ENST00000436874 human ensembl 70_37 +1 known silent c.1131 p.V377 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 54 9 14.29 44 0 0.00 VEZT 55591 genome.wustl.edu 37 12 95688056 95688056 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 95688056 95688056 G C SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 60 9 13.04 72 0 0.00 VEZT 55591 genome.wustl.edu 37 12 95694220 95694220 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 95694220 95694220 G T SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.2111 p.G704V 0.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 14 7 33.33 26 0 0.00 VGF 7425 genome.wustl.edu 37 7 100806313 100806313 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100806313 100806313 C G SNP VGF ENST00000249330 human ensembl 70_37 -1 known missense c.1812 p.E604D 1.000 NULL NULL - no_errors VGF HGNC ENSG00000128564 24 9 27.27 27 0 0.00 VGF 7425 genome.wustl.edu 37 7 100807818 100807818 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100807818 100807818 G A SNP VGF ENST00000249330 human ensembl 70_37 -1 known nonsense c.307 p.Q103* 0.164 NULL NULL - no_errors VGF HGNC ENSG00000128564 1 7 87.50 19 0 0.00 VGLL1 51442 genome.wustl.edu 37 X 135630903 135630903 + Missense_Mutation SNP T T A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 135630903 135630903 T A SNP VGLL1 ENST00000370634 human ensembl 70_37 +1 known missense c.370 p.S124T 0.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 48 14 22.58 65 0 0.00 VGLL1 51442 genome.wustl.edu 37 X 135631026 135631026 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 135631026 135631026 C T SNP VGLL1 ENST00000370634 human ensembl 70_37 +1 known missense c.493 p.R165C 0.001 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 48 6 11.11 46 0 0.00 VGLL3 389136 genome.wustl.edu 37 3 87018250 87018250 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 87018250 87018250 G A SNP VGLL3 ENST00000398399 human ensembl 70_37 -1 known missense c.427 p.R143W 0.976 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 54 14 20.59 66 0 0.00 VGLL4 9686 genome.wustl.edu 37 3 11600204 11600204 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 11600204 11600204 G C SNP VGLL4 ENST00000430365 human ensembl 70_37 -1 known missense c.717 p.I239M 1.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 33 5 13.16 89 0 0.00 VGLL4 9686 genome.wustl.edu 37 3 11600915 11600915 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 11600915 11600915 C T SNP VGLL4 ENST00000430365 human ensembl 70_37 -1 known silent c.510 p.V170 0.997 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 60 57 48.72 113 0 0.00 VIL1 7429 genome.wustl.edu 37 2 219292983 219292983 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 219292983 219292983 G T SNP VIL1 ENST00000248444 human ensembl 70_37 +1 known missense c.490 p.D164Y 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors VIL1 HGNC ENSG00000127831 57 35 38.04 43 0 0.00 VILL 50853 genome.wustl.edu 37 3 38042986 38042986 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 38042986 38042986 C T SNP VILL ENST00000283713 human ensembl 70_37 +1 known missense c.1222 p.P408S 0.989 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 7 22 73.33 43 0 0.00 VILL 50853 genome.wustl.edu 37 3 38043241 38043241 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38043241 38043241 G T SNP VILL ENST00000283713 human ensembl 70_37 +1 known nonsense c.1369 p.E457* 0.953 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 70 22 23.91 102 0 0.00 VILL 50853 genome.wustl.edu 37 3 38045873 38045873 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38045873 38045873 C A SNP VILL ENST00000283713 human ensembl 70_37 +1 known missense c.1933 p.L645M 1.000 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 16 11 40.74 46 0 0.00 VILL 50853 genome.wustl.edu 37 3 38047732 38047732 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38047732 38047732 G A SNP VILL ENST00000283713 human ensembl 70_37 +1 known missense c.2194 p.E732K 0.953 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 17 10 37.04 20 0 0.00 VILL 50853 genome.wustl.edu 37 3 38047734 38047734 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38047734 38047734 G A SNP VILL ENST00000283713 human ensembl 70_37 +1 known silent c.2196 p.E732 0.934 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 19 11 36.67 21 0 0.00 VIM 7431 genome.wustl.edu 37 10 17271880 17271880 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 17271880 17271880 G C SNP VIM ENST00000224237 human ensembl 70_37 +1 known missense c.459 p.E153D 1.000 pfam_F pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 26 17 39.53 51 0 0.00 VIM 7431 genome.wustl.edu 37 10 17276863 17276863 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 17276863 17276863 C A SNP VIM ENST00000495528 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VIM HGNC ENSG00000026025 14 11 44.00 46 0 0.00 VIM 7431 genome.wustl.edu 37 10 17278316 17278316 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 17278316 17278316 C T SNP VIM ENST00000224237 human ensembl 70_37 +1 known silent c.1297 p.L433 1.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 53 11 16.67 59 0 0.00 VIP 7432 genome.wustl.edu 37 6 153073374 153073374 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 153073374 153073374 C G SNP VIP ENST00000367244 human ensembl 70_37 +1 known nonsense c.62 p.S21* 0.995 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 28 4 12.50 42 0 0.00 VIP 7432 genome.wustl.edu 37 6 153073410 153073410 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 153073410 153073410 C A SNP VIP ENST00000367244 human ensembl 70_37 +1 known missense c.98 p.S33Y 0.151 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 53 10 15.87 47 0 0.00 VIPAS39 63894 genome.wustl.edu 37 14 77893965 77893965 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 77893965 77893965 C T SNP VIPAS39 ENST00000343765 human ensembl 70_37 -1 known silent c.1476 p.K492 1.000 NULL pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 27 10 27.03 51 0 0.00 VIPAS39 63894 genome.wustl.edu 37 14 77919688 77919688 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 77919688 77919688 G A SNP VIPAS39 ENST00000343765 human ensembl 70_37 -1 known silent c.150 p.D50 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 204 104 33.77 379 0 0.00 VIPR1 7433 genome.wustl.edu 37 3 42576527 42576527 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 42576527 42576527 C T SNP VIPR1 ENST00000325123 human ensembl 70_37 +1 known silent c.1071 p.F357 0.130 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 58 22 27.50 44 0 0.00 VIPR2 7434 genome.wustl.edu 37 7 158851185 158851185 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 158851185 158851185 G T SNP VIPR2 ENST00000262178 human ensembl 70_37 -1 known missense c.442 p.L148M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 14 4 22.22 36 0 0.00 VIT 5212 genome.wustl.edu 37 2 36970381 36970381 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 36970381 36970381 G A SNP VIT ENST00000379242 human ensembl 70_37 +1 known missense c.257 p.C86Y 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 45 7 13.21 37 0 0.00 VIT 5212 genome.wustl.edu 37 2 36982179 36982179 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 36982179 36982179 G T SNP VIT ENST00000379242 human ensembl 70_37 +1 known nonsense c.391 p.E131* 1.000 pfam_LCCL,superfamily_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 16 14 46.67 69 0 0.00 VIT 5212 genome.wustl.edu 37 2 36986225 36986225 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 36986225 36986225 G C SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.523 p.E175Q 0.034 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC ENSG00000205221 29 16 35.56 45 0 0.00 VIT 5212 genome.wustl.edu 37 2 36986229 36986229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 36986229 36986229 C G SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.527 p.S176C 0.000 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC ENSG00000205221 77 25 24.51 104 0 0.00 VIT 5212 genome.wustl.edu 37 2 36986238 36986238 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 36986238 36986238 C T SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.536 p.T179M 0.000 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC ENSG00000205221 49 23 31.94 73 0 0.00 VIT 5212 genome.wustl.edu 37 2 37035659 37035659 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 37035659 37035659 C T SNP VIT ENST00000379242 human ensembl 70_37 +1 known silent c.1434 p.S478 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 31 5 13.89 54 0 0.00 VKORC1 79001 genome.wustl.edu 37 16 31106931 31106931 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 31106931 31106931 C G SNP VKORC1 ENST00000498155 human ensembl 70_37 -1 putative missense c.49 p.E17Q 0.000 NULL NULL - no_errors VKORC1 HGNC ENSG00000167397 13 7 35.00 28 0 0.00 VKORC1L1 154807 genome.wustl.edu 37 7 65419185 65419185 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 65419185 65419185 C T SNP VKORC1L1 ENST00000434382 human ensembl 70_37 +1 novel missense c.319 p.R107C 1.000 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 38 25 39.68 72 0 0.00 VLDLR 7436 genome.wustl.edu 37 9 2643216 2643216 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 9 2643216 2643216 A G SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.505 p.R169G 0.984 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 20 15 42.86 24 0 0.00 VLDLR 7436 genome.wustl.edu 37 9 2643293 2643293 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 2643293 2643293 C T SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known silent c.582 p.G194 0.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 34 6 15.00 32 0 0.00 VLDLR 7436 genome.wustl.edu 37 9 2643322 2643322 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 2643322 2643322 C G SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.611 p.S204C 0.976 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 74 23 23.71 40 0 0.00 VLDLR 7436 genome.wustl.edu 37 9 2643666 2643666 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 2643666 2643666 G C SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.859 p.D287H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 33 25 43.10 74 0 0.00 VMO1 284013 genome.wustl.edu 37 17 4688890 4688890 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4688890 4688890 G A SNP VMO1 ENST00000328739 human ensembl 70_37 -1 known missense c.376 p.R126C 0.916 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 37 31 45.59 56 0 0.00 VMO1 284013 genome.wustl.edu 37 17 4689317 4689317 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 4689317 4689317 C T SNP VMO1 ENST00000328739 human ensembl 70_37 -1 known missense c.226 p.D76N 0.997 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 80 48 37.50 116 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57851201 57851201 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57851201 57851201 G C SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known missense c.669 p.E223D 0.794 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 26 8 23.53 31 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57889099 57889099 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 57889099 57889099 C T SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known silent c.864 p.F288 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 113 39 25.66 185 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57915144 57915144 + RNA SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 17 57915144 57915144 G A SNP VMP1 ENST00000591782 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VMP1 HGNC ENSG00000062716 43 17 28.33 27 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57915573 57915573 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 57915573 57915573 G A SNP VMP1 ENST00000588617 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors VMP1 HGNC ENSG00000062716 42 30 41.67 69 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57915729 57915729 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 57915729 57915729 C T SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known missense c.1048 p.H350Y 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 75 13 14.77 61 0 0.00 VMP1 81671 genome.wustl.edu 37 17 57917481 57917481 + RNA SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 57917481 57917481 T C SNP VMP1 ENST00000588617 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors VMP1 HGNC ENSG00000062716 32 13 28.89 78 0 0.00 VN1R1 57191 genome.wustl.edu 37 19 57967165 57967165 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57967165 57967165 C T SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.690 p.M230I 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 50 33 39.76 79 0 0.00 VN1R1 57191 genome.wustl.edu 37 19 57967211 57967211 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57967211 57967211 C G SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.644 p.R215T 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 67 26 27.96 51 0 0.00 VN1R1 57191 genome.wustl.edu 37 19 57967496 57967496 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 57967496 57967496 C G SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.359 p.G120A 0.080 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 50 7 12.28 52 0 0.00 VN1R1 57191 genome.wustl.edu 37 19 57967758 57967758 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 57967758 57967758 G C SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.97 p.Q33E 0.000 NULL pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 17 14 45.16 39 0 0.00 VN1R2 317701 genome.wustl.edu 37 19 53761980 53761980 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 53761980 53761980 G T SNP VN1R2 ENST00000341702 human ensembl 70_37 +1 known nonsense c.352 p.G118* 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 57 26 31.33 37 0 0.00 VN1R2 317701 genome.wustl.edu 37 19 53761997 53761997 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 53761997 53761997 C G SNP VN1R2 ENST00000341702 human ensembl 70_37 +1 known silent c.369 p.S123 0.000 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 25 14 35.90 30 0 0.00 VN1R4 317703 genome.wustl.edu 37 19 53770598 53770598 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 53770598 53770598 G A SNP VN1R4 ENST00000311170 human ensembl 70_37 -1 known silent c.321 p.I107 0.191 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 101 91 47.40 214 0 0.00 VNN1 8876 genome.wustl.edu 37 6 133035100 133035100 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 133035100 133035100 G A SNP VNN1 ENST00000367928 human ensembl 70_37 -1 known silent c.75 p.F25 0.003 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 33 14 29.79 44 0 0.00 VNN2 8875 genome.wustl.edu 37 6 133065601 133065601 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 133065601 133065601 C G SNP VNN2 ENST00000326499 human ensembl 70_37 -1 known missense c.1401 p.K467N 0.599 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 15 25 62.50 39 0 0.00 VNN2 8875 genome.wustl.edu 37 6 133072503 133072503 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 133072503 133072503 G C SNP VNN2 ENST00000326499 human ensembl 70_37 -1 known missense c.981 p.I327M 0.000 pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 50 19 27.54 37 0 0.00 VNN3 55350 genome.wustl.edu 37 6 133044194 133044194 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 133044194 133044194 C T SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known splice_site c.1375-1 e8-1 0.967 - - - no_errors VNN3 HGNC ENSG00000093134 44 18 29.03 62 0 0.00 VNN3 55350 genome.wustl.edu 37 6 133045825 133045825 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 133045825 133045825 A G SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.1120 p.S374P 0.991 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 29 17 36.96 69 0 0.00 VNN3 55350 genome.wustl.edu 37 6 133045852 133045852 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 133045852 133045852 G C SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.1093 p.L365V 0.993 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 48 27 36.00 36 0 0.00 VNN3 55350 genome.wustl.edu 37 6 133047960 133047960 + Missense_Mutation SNP G G A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 6 133047960 133047960 G A SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.727 p.P243S 1.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 42 37 46.84 62 0 0.00 VNN3 55350 genome.wustl.edu 37 6 133048037 133048037 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 133048037 133048037 G A SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.652 p.H218Y 0.427 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 65 26 28.57 74 0 0.00 VOPP1 81552 genome.wustl.edu 37 7 55540725 55540725 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 55540725 55540725 C T SNP VOPP1 ENST00000285279 human ensembl 70_37 -1 known silent c.342 p.P114 0.999 NULL NULL - no_errors VOPP1 HGNC ENSG00000154978 40 24 37.50 61 0 0.00 VPRBP 9730 genome.wustl.edu 37 3 51452260 51452260 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 3 51452260 51452260 G C SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.2308 p.L770V 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 11 4 26.67 38 0 0.00 VPRBP 9730 genome.wustl.edu 37 3 51457372 51457372 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 51457372 51457372 G A SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.1705 p.R569C 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 88 92 51.11 283 0 0.00 VPRBP 9730 genome.wustl.edu 37 3 51457980 51457980 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 51457980 51457980 C T SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.1097 p.R366Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 58 13 18.31 39 0 0.00 VPRBP 9730 genome.wustl.edu 37 3 51458162 51458162 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 51458162 51458162 G A SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known silent c.915 p.I305 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 28 4 12.12 33 0 0.00 VPREB1 7441 genome.wustl.edu 37 22 22599619 22599619 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 22599619 22599619 C G SNP VPREB1 ENST00000403807 human ensembl 70_37 +1 known missense c.308 p.S103C 0.641 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VPREB1 HGNC ENSG00000169575 8 5 38.46 20 0 0.00 VPS11 55823 genome.wustl.edu 37 11 118938588 118938588 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 118938588 118938588 G T SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 30 16 34.04 61 0 0.00 VPS11 55823 genome.wustl.edu 37 11 118938721 118938721 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 118938721 118938721 G C SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 3 13 81.25 22 0 0.00 VPS11 55823 genome.wustl.edu 37 11 118940948 118940948 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 118940948 118940948 C T SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 14 4 22.22 24 0 0.00 VPS11 55823 genome.wustl.edu 37 11 118944082 118944082 + RNA SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 11 118944082 118944082 G T SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 26 4 13.33 28 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79825580 79825580 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 79825580 79825580 C G SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.544 p.L182V 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 9 9 50.00 51 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79840896 79840896 + Nonsense_Mutation SNP G G T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 79840896 79840896 G T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known nonsense c.1216 p.E406* 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 233 30 11.32 308 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79853265 79853265 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 79853265 79853265 G C SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.1863 p.L621F 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 47 14 22.95 48 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79875040 79875040 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 79875040 79875040 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.2327 p.R776Q 0.996 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 17 21 55.26 49 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79897050 79897050 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 79897050 79897050 C T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.2978 p.S993F 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 61 18 22.78 56 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79929019 79929019 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 79929019 79929019 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.4226 p.S1409N 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 27 20 42.55 46 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79931247 79931247 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 9 79931247 79931247 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.4788 p.M1596I 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 27 11 28.95 38 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79932560 79932560 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 79932560 79932560 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known silent c.4902 p.Q1634 0.584 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 44 37 45.68 78 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79933357 79933357 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 79933357 79933357 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.5163 p.M1721I 0.001 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 15 4 21.05 20 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79936432 79936432 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 79936432 79936432 C T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.5600 p.S1867F 0.699 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 58 16 21.62 56 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79952270 79952270 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 79952270 79952270 G C SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.6195 p.K2065N 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 40 15 27.27 56 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79972637 79972637 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 79972637 79972637 G T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.7836 p.M2612I 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 32 6 15.79 43 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79980379 79980379 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 79980379 79980379 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.8215 p.E2739K 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 13 10 43.48 33 0 0.00 VPS13A 23230 genome.wustl.edu 37 9 79999526 79999526 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 79999526 79999526 T G SNP VPS13A ENST00000357409 human ensembl 70_37 +1 known missense c.9215 p.I3072S 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 7 6 46.15 21 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100108604 100108604 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 100108604 100108604 C G SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.356 p.S119* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 11 5 31.25 40 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100133458 100133458 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 100133458 100133458 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.991 p.Q331* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 33 5 13.16 38 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100147896 100147896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 100147896 100147896 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.1498 p.D500H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 93 49 34.51 98 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100147948 100147948 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100147948 100147948 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.1550 p.S517L 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 77 26 25.24 51 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100155380 100155380 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 100155380 100155380 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.1830 p.S610 0.126 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 266 51 16.09 250 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100523624 100523624 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 100523624 100523624 G T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4592 p.G1531V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 11 4 26.67 8 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100523692 100523692 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 100523692 100523692 A C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4660 p.I1554L 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 2 2 50.00 8 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100533164 100533164 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 100533164 100533164 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4746 p.K1582N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 48 26 35.14 44 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100654154 100654154 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 100654154 100654154 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.5411 p.R1804T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 121 69 36.32 123 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100711817 100711817 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 100711817 100711817 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.6186 p.Q2062H 0.996 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 16 9 36.00 17 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100712049 100712049 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 100712049 100712049 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.6418 p.Q2140* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 18 9 33.33 51 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100796656 100796656 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 100796656 100796656 G A SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.7968 p.A2656 0.942 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 31 14 31.11 55 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100833669 100833669 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 100833669 100833669 G A SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.9217 p.D3073N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 52 10 16.13 58 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100844677 100844677 + Silent SNP T T G TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 8 100844677 100844677 T G SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.9486 p.P3162 0.998 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 38 13 25.49 48 0 0.00 VPS13B 157680 genome.wustl.edu 37 8 100844848 100844848 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 100844848 100844848 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.9657 p.L3219 0.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 32 29 47.54 40 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62146686 62146686 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 62146686 62146686 C T SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.11232 p.V3744 0.677 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 47 36 43.37 98 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62173101 62173101 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 62173101 62173101 G A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.9829 p.L3277 0.997 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 164 50 23.36 114 1 0.87 VPS13C 54832 genome.wustl.edu 37 15 62204064 62204064 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 62204064 62204064 T G SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.8690 p.K2897T 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 27 13 32.50 50 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62207973 62207973 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 62207973 62207973 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.8304 p.V2768 0.995 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 26 20 43.48 30 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62212712 62212712 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 62212712 62212712 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.7197 p.F2399L 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 8 13 61.90 24 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62223419 62223419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 62223419 62223419 C A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.5908 p.G1970C 0.990 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 35 5 12.50 32 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62253889 62253889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 62253889 62253889 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.3807 p.I1269M 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 17 8 30.77 34 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62256067 62256067 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 15 62256067 62256067 C T SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.3298 p.E1100K 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 19 11 36.67 36 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62258338 62258338 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 62258338 62258338 C A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.2995 p.D999Y 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 26 4 13.33 21 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62264905 62264905 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 62264905 62264905 C G SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.2676 p.M892I 0.002 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 37 28 43.08 60 0 0.00 VPS13C 54832 genome.wustl.edu 37 15 62283886 62283886 + Nonsense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 62283886 62283886 G T SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known nonsense c.1469 p.S490* 0.988 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 142 82 36.61 266 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12304470 12304470 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12304470 12304470 C A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.343 p.Q115K 0.936 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 21 14 40.00 54 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12309611 12309611 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 12309611 12309611 A G SNP VPS13D ENST00000476169 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors VPS13D HGNC ENSG00000048707 7 6 46.15 15 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12316413 12316413 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12316413 12316413 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.693 p.E231D 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 43 14 24.56 59 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12321050 12321050 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 12321050 12321050 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.1258 p.A420T 0.125 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 102 113 52.56 193 1 0.52 VPS13D 55187 genome.wustl.edu 37 1 12337696 12337696 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12337696 12337696 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.4051 p.E1351K 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 18 18 50.00 44 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12343083 12343083 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12343083 12343083 C T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.4924 p.L1642F 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 54 9 14.29 56 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12359381 12359381 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 12359381 12359381 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known silent c.6156 p.L2052 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 53 23 30.26 70 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12401881 12401881 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12401881 12401881 G T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.8671 p.A2891S 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 44 5 10.20 45 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12408985 12408985 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12408985 12408985 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.9175 p.E3059Q 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 50 15 23.08 59 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12414078 12414078 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12414078 12414078 C A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known nonsense c.9479 p.S3160* 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 23 8 25.81 42 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12433879 12433879 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 12433879 12433879 C T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.10883 p.S3628L 0.999 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 11 17 60.71 38 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12557624 12557624 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12557624 12557624 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.12733 p.E4245Q 0.998 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 21 12 36.36 23 0 0.00 VPS13D 55187 genome.wustl.edu 37 1 12570579 12570580 + RNA INS - - TG TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 12570579 12570580 - TG INS VPS13D ENST00000496628 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS13D HGNC ENSG00000048707 61 17 21.79 20 0 0.00 VPS16 64601 genome.wustl.edu 37 20 2841412 2841412 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 2841412 2841412 C G SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known missense c.533 p.S178C 0.753 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 62 23 27.06 67 0 0.00 VPS16 64601 genome.wustl.edu 37 20 2843296 2843296 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 2843296 2843296 G A SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.1143 p.Q381 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 13 8 38.10 20 0 0.00 VPS16 64601 genome.wustl.edu 37 20 2845015 2845015 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 2845015 2845015 C T SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.1725 p.F575 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 31 33 51.56 128 0 0.00 VPS16 64601 genome.wustl.edu 37 20 2845875 2845875 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 2845875 2845875 C T SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.2086 p.L696 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 16 11 40.74 16 0 0.00 VPS18 57617 genome.wustl.edu 37 15 41191573 41191573 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 41191573 41191573 C T SNP VPS18 ENST00000220509 human ensembl 70_37 +1 known missense c.557 p.P186L 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 23 6 20.69 36 0 0.00 VPS18 57617 genome.wustl.edu 37 15 41192812 41192812 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 41192812 41192812 C T SNP VPS18 ENST00000220509 human ensembl 70_37 +1 known missense c.1796 p.S599L 1.000 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 13 8 38.10 34 0 0.00 VPS25 84313 genome.wustl.edu 37 17 40927461 40927461 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40927461 40927461 G A SNP VPS25 ENST00000253794 human ensembl 70_37 +1 known missense c.316 p.E106K 1.000 pfam_ESCRT-II_cplx_vps25-sub pfam_ESCRT-II_cplx_vps25-sub - no_errors VPS25 HGNC ENSG00000131475 26 14 35.00 47 0 0.00 VPS26A 9559 genome.wustl.edu 37 10 70883965 70883965 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 70883965 70883965 G C SNP VPS26A ENST00000489656 human ensembl 70_37 +1 known rna NULL NULL 0.278 - - - no_errors VPS26A HGNC ENSG00000122958 35 21 37.50 83 0 0.00 VPS28 51160 genome.wustl.edu 37 8 145650985 145650985 + RNA SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 8 145650985 145650985 G A SNP VPS28 ENST00000526734 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors VPS28 HGNC ENSG00000160948 8 4 33.33 10 0 0.00 VPS29 51699 genome.wustl.edu 37 12 110930923 110930923 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 110930923 110930923 C G SNP VPS29 ENST00000397678 human ensembl 70_37 -1 known missense c.321 p.Q107H 1.000 tigrfam_Phosphodiesterase_MJ0936 tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 18 11 37.93 33 0 0.00 VPS33A 65082 genome.wustl.edu 37 12 122745896 122745896 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122745896 122745896 C T SNP VPS33A ENST00000267199 human ensembl 70_37 -1 known missense c.395 p.G132E 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 21 9 30.00 37 0 0.00 VPS33A 65082 genome.wustl.edu 37 12 122745916 122745916 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122745916 122745916 C T SNP VPS33A ENST00000267199 human ensembl 70_37 -1 known silent c.375 p.L125 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 26 9 25.71 45 0 0.00 VPS33B 26276 genome.wustl.edu 37 15 91545319 91545319 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 91545319 91545319 C T SNP VPS33B ENST00000333371 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 31 11 26.19 45 0 0.00 VPS33B 26276 genome.wustl.edu 37 15 91549239 91549239 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 91549239 91549239 C T SNP VPS33B ENST00000333371 human ensembl 70_37 -1 known silent c.903 p.L301 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 22 10 31.25 24 0 0.00 VPS35 55737 genome.wustl.edu 37 16 46706273 46706273 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 46706273 46706273 G A SNP VPS35 ENST00000299138 human ensembl 70_37 -1 known silent c.1272 p.L424 0.998 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 28 9 24.32 28 0 0.00 VPS36 51028 genome.wustl.edu 37 13 52999941 52999942 + RNA INS - - A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 13 52999941 52999942 - A INS VPS36 ENST00000492650 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors VPS36 HGNC ENSG00000136100 32 4 11.11 21 0 0.00 VPS37A 137492 genome.wustl.edu 37 8 17123453 17123453 + Frame_Shift_Del DEL C C - TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 17123453 17123453 C - DEL VPS37A ENST00000324849 human ensembl 70_37 +1 known frame_shift_del c.163 p.P55fs 1.000 NULL pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 17 2 10.53 56 0 0.00 VPS37A 137492 genome.wustl.edu 37 8 17126424 17126424 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 17126424 17126424 G C SNP VPS37A ENST00000324849 human ensembl 70_37 +1 known missense c.375 p.K125N 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 16 8 33.33 36 0 0.00 VPS37A 137492 genome.wustl.edu 37 8 17137456 17137456 + Missense_Mutation SNP A A C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 17137456 17137456 A C SNP VPS37A ENST00000520140 human ensembl 70_37 +1 known missense c.939 p.K313N 0.248 NULL superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 23 12 34.29 27 0 0.00 VPS37A 137492 genome.wustl.edu 37 8 17155656 17155656 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 17155656 17155656 G A SNP VPS37A ENST00000519515 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS37A HGNC ENSG00000155975 49 19 27.94 45 0 0.00 VPS37C 55048 genome.wustl.edu 37 11 60900771 60900771 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 60900771 60900771 C T SNP VPS37C ENST00000301765 human ensembl 70_37 -1 known missense c.304 p.D102N 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 19 9 30.00 53 0 0.00 VPS37C 55048 genome.wustl.edu 37 11 60901632 60901632 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 60901632 60901632 C T SNP VPS37C ENST00000301765 human ensembl 70_37 -1 known silent c.141 p.R47 0.958 pfam_Mod_r pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 23 17 42.50 94 0 0.00 VPS37D 155382 genome.wustl.edu 37 7 73084430 73084430 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 73084430 73084430 G C SNP VPS37D ENST00000324941 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37D HGNC ENSG00000176428 32 11 25.00 46 0 0.00 VPS39 23339 genome.wustl.edu 37 15 42454321 42454321 + Missense_Mutation SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 15 42454321 42454321 C T SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known missense c.2402 p.R801H 1.000 pfam_VPS39/TGF_beta_rcpt-assoc_2 pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 29 18 38.30 38 0 0.00 VPS39 23339 genome.wustl.edu 37 15 42455913 42455913 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42455913 42455913 T C SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known silent c.2073 p.E691 0.855 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 30 12 28.57 43 0 0.00 VPS39 23339 genome.wustl.edu 37 15 42457228 42457228 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42457228 42457228 A G SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known silent c.1896 p.G632 0.217 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 22 16 42.11 71 0 0.00 VPS39 23339 genome.wustl.edu 37 15 42483732 42483732 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 42483732 42483732 C G SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known missense c.199 p.E67Q 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 27 21 43.75 70 0 0.00 VPS41 27072 genome.wustl.edu 37 7 38805239 38805239 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 7 38805239 38805239 T C SNP VPS41 ENST00000310301 human ensembl 70_37 -1 known missense c.1270 p.K424E 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 24 10 29.41 43 0 0.00 VPS41 27072 genome.wustl.edu 37 7 38860835 38860835 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 38860835 38860835 C G SNP VPS41 ENST00000310301 human ensembl 70_37 -1 known missense c.352 p.E118Q 1.000 superfamily_WD40_repeat_dom,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 7 5 41.67 21 0 0.00 VPS45 11311 genome.wustl.edu 37 1 150040827 150040827 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150040827 150040827 G A SNP VPS45 ENST00000478999 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors VPS45 HGNC ENSG00000136631 30 4 11.76 28 0 0.00 VPS45 11311 genome.wustl.edu 37 1 150048382 150048382 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150048382 150048382 G C SNP VPS45 ENST00000369130 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 36 23 38.98 53 0 0.00 VPS45 11311 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 24 3 11.11 18 0 0.00 VPS45 11311 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 18 3 14.29 20 0 0.00 VPS4A 27183 genome.wustl.edu 37 16 69352823 69352823 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 69352823 69352823 C G SNP VPS4A ENST00000254950 human ensembl 70_37 +1 known missense c.441 p.I147M 0.993 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 50 14 21.54 66 0 0.00 VPS4A 27183 genome.wustl.edu 37 16 69354623 69354623 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 69354623 69354623 C T SNP VPS4A ENST00000254950 human ensembl 70_37 +1 known missense c.802 p.L268F 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 14 8 36.36 46 0 0.00 VPS4B 9525 genome.wustl.edu 37 18 61058250 61058250 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 61058250 61058250 C A SNP VPS4B ENST00000238497 human ensembl 70_37 -1 known missense c.1293 p.L431F 0.999 pfam_Vps4_C pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 35 30 46.15 62 0 0.00 VPS4B 9525 genome.wustl.edu 37 18 61074678 61074678 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 61074678 61074678 C T SNP VPS4B ENST00000238497 human ensembl 70_37 -1 known silent c.351 p.Q117 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 69 40 36.70 131 0 0.00 VPS51 738 genome.wustl.edu 37 11 64864556 64864556 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 64864556 64864556 G C SNP VPS51 ENST00000279281 human ensembl 70_37 +1 known missense c.315 p.Q105H 1.000 pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10 pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 26 10 27.78 48 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33218546 33218546 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33218546 33218546 G T SNP VPS52 ENST00000478934 human ensembl 70_37 -1 known rna NULL NULL 0.285 - - - no_errors VPS52 HGNC ENSG00000223501 27 10 27.03 47 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33218669 33218669 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 33218669 33218669 G C SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.2121 p.I707M 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 23 17 42.50 33 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33232075 33232075 + RNA SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 6 33232075 33232075 G A SNP VPS52 ENST00000493674 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VPS52 HGNC ENSG00000223501 31 17 35.42 66 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33237790 33237790 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 33237790 33237790 C G SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.214 p.E72Q 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 45 22 32.84 50 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33237985 33237985 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 33237985 33237985 C G SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.166 p.E56Q 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 177 63 26.14 282 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33239313 33239313 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 33239313 33239313 G A SNP VPS52 ENST00000482399 human ensembl 70_37 -1 putative missense c.140 p.S47L 0.001 NULL NULL - no_errors VPS52 HGNC ENSG00000223501 23 19 45.24 21 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33239391 33239391 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 33239391 33239391 G C SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known nonsense c.62 p.S21* 0.984 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 25 14 35.90 44 0 0.00 VPS52 6293 genome.wustl.edu 37 6 33239435 33239435 + Silent SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fd39abc-ea1a-42b8-8cc1-90ec3de41c86 b8a74f15-4ec7-45dd-809b-4460c734ee33 6 33239435 33239435 G A SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known silent c.18 p.T6 0.995 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 41 8 16.33 41 0 0.00 VPS53 55275 genome.wustl.edu 37 17 455118 455118 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 455118 455118 C T SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.1860 p.M620I 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 31 10 24.39 36 0 0.00 VPS53 55275 genome.wustl.edu 37 17 465783 465783 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 465783 465783 G A SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known nonsense c.1516 p.R506* 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 73 24 24.74 102 0 0.00 VPS53 55275 genome.wustl.edu 37 17 600665 600665 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 600665 600665 C G SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.278 p.G93A 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 50 19 27.54 71 0 0.00 VPS53 55275 genome.wustl.edu 37 17 600666 600666 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 600666 600666 C T SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.277 p.G93R 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 50 19 27.54 69 0 0.00 VPS54 51542 genome.wustl.edu 37 2 64147684 64147684 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 64147684 64147684 G A SNP VPS54 ENST00000272322 human ensembl 70_37 -1 known silent c.1947 p.T649 0.999 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 23 18 43.90 38 0 0.00 VPS54 51542 genome.wustl.edu 37 2 64211004 64211004 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 64211004 64211004 G T SNP VPS54 ENST00000272322 human ensembl 70_37 -1 known missense c.130 p.P44T 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 14 5 26.32 32 0 0.00 VPS72 6944 genome.wustl.edu 37 1 151149160 151149160 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 151149160 151149160 G A SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known missense c.1055 p.S352F 0.997 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 27 16 37.21 32 0 0.00 VPS72 6944 genome.wustl.edu 37 1 151149168 151149168 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 151149168 151149168 G T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known silent c.1047 p.L349 0.992 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 109 71 39.23 148 0 0.00 VPS72 6944 genome.wustl.edu 37 1 151149168 151149168 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 151149168 151149168 G T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known silent c.1047 p.L349 0.992 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 30 18 37.50 27 0 0.00 VPS72 6944 genome.wustl.edu 37 1 151150622 151150622 + Splice_Site SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151150622 151150622 C T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known splice_site c.563-1 e5-1 1.000 - - - no_errors VPS72 HGNC ENSG00000163159 72 9 11.11 67 0 0.00 VPS8 23355 genome.wustl.edu 37 3 184550510 184550510 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 184550510 184550510 G C SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known missense c.256 p.D86H 1.000 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 83 16 16.16 77 0 0.00 VPS8 23355 genome.wustl.edu 37 3 184573498 184573498 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184573498 184573498 G C SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known splice_site c.1036-1 e12-1 1.000 - - - no_errors VPS8 HGNC ENSG00000156931 29 10 25.64 22 0 0.00 VPS8 23355 genome.wustl.edu 37 3 184642661 184642661 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 184642661 184642661 G A SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known silent c.2466 p.E822 1.000 superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 93 22 19.13 82 0 0.00 VPS8 23355 genome.wustl.edu 37 3 184769794 184769794 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 184769794 184769794 C A SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known missense c.4268 p.P1423Q 0.959 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 45 5 10.00 47 0 0.00 VPS9D1 9605 genome.wustl.edu 37 16 89785456 89785456 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89785456 89785456 C G SNP VPS9D1 ENST00000389386 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 54 16 22.86 59 0 0.00 VRK3 51231 genome.wustl.edu 37 19 50482462 50482462 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50482462 50482462 G A SNP VRK3 ENST00000316763 human ensembl 70_37 -1 known silent c.1314 p.L438 0.064 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC ENSG00000105053 96 22 18.64 138 0 0.00 VRK3 51231 genome.wustl.edu 37 19 50498170 50498170 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50498170 50498170 C T SNP VRK3 ENST00000596121 human ensembl 70_37 -1 known missense c.619 p.G207S 1.000 NULL NULL - no_errors VRK3 HGNC ENSG00000105053 34 15 30.61 43 0 0.00 VRK3 51231 genome.wustl.edu 37 19 50512551 50512551 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50512551 50512551 G A SNP VRK3 ENST00000316763 human ensembl 70_37 -1 known silent c.231 p.F77 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC ENSG00000105053 44 11 20.00 61 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74823763 74823763 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74823763 74823763 C G SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.277 p.L93V 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 14 3 17.65 17 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74824599 74824599 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824599 74824599 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1113 p.M371I 0.666 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 61 14 18.67 48 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74824600 74824600 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 74824600 74824600 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.906 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 30 27 46.55 47 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74824609 74824609 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824609 74824609 G C SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1123 p.E375Q 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 61 14 18.42 45 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74824914 74824914 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 14 74824914 74824914 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known silent c.1428 p.K476 0.822 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 48 10 17.24 50 0 0.00 VRTN 55237 genome.wustl.edu 37 14 74824923 74824923 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 74824923 74824923 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known silent c.1437 p.A479 0.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 29 49 62.03 32 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107304672 107304672 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 107304672 107304672 C T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.228 p.L76 0.997 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 44 14 24.14 46 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107315938 107315938 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 107315938 107315938 A C SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known missense c.552 p.Q184H 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 77 12 13.48 68 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107319386 107319386 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 107319386 107319386 C T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.876 p.F292 0.008 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 44 22 33.33 100 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107320497 107320497 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 107320497 107320497 G T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.1158 p.L386 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 84 13 13.40 51 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107320504 107320504 + Missense_Mutation SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 107320504 107320504 G A SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 28 25 47.17 52 0 0.00 VSIG1 340547 genome.wustl.edu 37 X 107320570 107320570 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 107320570 107320570 G C SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known missense c.1231 p.E411Q 0.155 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 34 20 37.04 36 0 0.00 VSIG10 54621 genome.wustl.edu 37 12 118520134 118520134 + Silent SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 12 118520134 118520134 G A SNP VSIG10 ENST00000359236 human ensembl 70_37 -1 known silent c.462 p.N154 0.922 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG10 HGNC ENSG00000176834 22 15 39.47 42 0 0.00 VSIG10L 147645 genome.wustl.edu 37 19 51837453 51837453 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 51837453 51837453 C T SNP VSIG10L ENST00000335624 human ensembl 70_37 -1 novel missense c.2411 p.R804H 0.015 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG10L HGNC ENSG00000186806 32 61 65.59 58 0 0.00 VSIG2 23584 genome.wustl.edu 37 11 124618303 124618303 + Silent SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 124618303 124618303 A G SNP VSIG2 ENST00000326621 human ensembl 70_37 -1 known silent c.834 p.Y278 0.982 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG2 HGNC ENSG00000019102 21 18 46.15 31 0 0.00 VSIG2 23584 genome.wustl.edu 37 11 124621373 124621373 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124621373 124621373 G C SNP VSIG2 ENST00000326621 human ensembl 70_37 -1 known missense c.165 p.F55L 0.904 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG2 HGNC ENSG00000019102 123 39 24.07 197 0 0.00 VSIG4 11326 genome.wustl.edu 37 X 65242172 65242172 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 65242172 65242172 G T SNP VSIG4 ENST00000374737 human ensembl 70_37 -1 known missense c.1133 p.A378D 0.006 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG4 HGNC ENSG00000155659 41 44 51.76 55 0 0.00 VSIG4 11326 genome.wustl.edu 37 X 65242304 65242304 + Missense_Mutation SNP A A C TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 X 65242304 65242304 A C SNP VSIG4 ENST00000374737 human ensembl 70_37 -1 known missense c.1001 p.M334R 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG4 HGNC ENSG00000155659 7 12 63.16 39 0 0.00 VSIG4 11326 genome.wustl.edu 37 X 65253527 65253527 + Silent SNP G G T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 65253527 65253527 G T SNP VSIG4 ENST00000374737 human ensembl 70_37 -1 known silent c.201 p.I67 0.988 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG4 HGNC ENSG00000155659 24 8 25.00 33 0 0.00 VSIG8 391123 genome.wustl.edu 37 1 159827565 159827565 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 159827565 159827565 G A SNP VSIG8 ENST00000368100 human ensembl 70_37 -1 known nonsense c.622 p.Q208* 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG8 HGNC ENSG00000243284 137 22 13.84 97 0 0.00 VSTM1 284415 genome.wustl.edu 37 19 54544289 54544289 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 54544289 54544289 C T SNP VSTM1 ENST00000338372 human ensembl 70_37 -1 known missense c.637 p.A213T 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC ENSG00000189068 64 14 17.95 58 0 0.00 VSTM1 284415 genome.wustl.edu 37 19 54551654 54551654 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 54551654 54551654 G A SNP VSTM1 ENST00000425006 human ensembl 70_37 -1 known missense c.398 p.A133V 0.011 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC ENSG00000189068 47 25 34.72 34 0 0.00 VSTM1 284415 genome.wustl.edu 37 19 54561966 54561966 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54561966 54561966 C T SNP VSTM1 ENST00000338372 human ensembl 70_37 -1 known missense c.55 p.D19N 0.041 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC ENSG00000189068 44 24 35.29 47 0 0.00 VSTM2A 222008 genome.wustl.edu 37 7 54612464 54612464 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 54612464 54612464 G A SNP VSTM2A ENST00000402026 human ensembl 70_37 +1 known missense c.226 p.E76K 0.994 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2A HGNC ENSG00000170419 3 2 40.00 16 0 0.00 VSTM2B 342865 genome.wustl.edu 37 19 30018176 30018176 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 30018176 30018176 G A SNP VSTM2B ENST00000335523 human ensembl 70_37 +1 known missense c.141 p.M47I 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2B HGNC ENSG00000187135 37 14 26.92 47 0 0.00 VSTM2L 128434 genome.wustl.edu 37 20 36572449 36572449 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 36572449 36572449 G A SNP VSTM2L ENST00000373461 human ensembl 70_37 +1 known missense c.409 p.E137K 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2L HGNC ENSG00000132821 41 14 25.45 94 0 0.00 VSX1 30813 genome.wustl.edu 37 20 25060148 25060148 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 25060148 25060148 C G SNP VSX1 ENST00000376709 human ensembl 70_37 -1 known missense c.427 p.E143Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VSX1 HGNC ENSG00000100987 35 14 28.57 63 0 0.00 VTA1 51534 genome.wustl.edu 37 6 142519611 142519611 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 142519611 142519611 C T SNP VTA1 ENST00000367630 human ensembl 70_37 +1 known silent c.556 p.L186 0.712 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 17 26 60.47 23 0 0.00 VTCN1 79679 genome.wustl.edu 37 1 117695881 117695881 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 117695881 117695881 C T SNP VTCN1 ENST00000359008 human ensembl 70_37 -1 known missense c.565 p.D189N 0.786 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors VTCN1 HGNC ENSG00000134258 47 9 16.07 47 0 0.00 VTI1A 143187 genome.wustl.edu 37 10 114287026 114287026 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 114287026 114287026 C T SNP VTI1A ENST00000480057 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VTI1A HGNC ENSG00000151532 9 6 40.00 22 0 0.00 VTN 7448 genome.wustl.edu 37 17 26695897 26695897 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 26695897 26695897 G A SNP VTN ENST00000226218 human ensembl 70_37 -1 known silent c.822 p.F274 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000255604 24 15 38.46 50 0 0.00 VTN 7448 genome.wustl.edu 37 17 26696313 26696313 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 26696313 26696313 G A SNP VTN ENST00000226218 human ensembl 70_37 -1 known silent c.666 p.F222 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000255604 15 9 37.50 42 0 0.00 VTRNA2-1 100126299 genome.wustl.edu 37 5 135416194 135416194 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 135416194 135416194 C T SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors VTRNA2-1 HGNC ENSG00000202030 14 10 41.67 26 0 0.00 VTRNA2-1 100126299 genome.wustl.edu 37 5 135416214 135416214 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 135416214 135416214 C T SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors VTRNA2-1 HGNC ENSG00000202030 11 29 72.50 61 0 0.00 VTRNA2-1 100126299 genome.wustl.edu 37 5 135416242 135416242 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 135416242 135416242 G C SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors VTRNA2-1 HGNC ENSG00000202030 15 16 51.61 28 0 0.00 VWA2 340706 genome.wustl.edu 37 10 116048748 116048748 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 116048748 116048748 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known missense c.1622 p.S541L 0.868 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 79 10 11.24 63 0 0.00 VWA2 340706 genome.wustl.edu 37 10 116048803 116048803 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 116048803 116048803 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known silent c.1677 p.L559 0.253 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 20 20 50.00 41 0 0.00 VWA2 340706 genome.wustl.edu 37 10 116048875 116048875 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 116048875 116048875 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known silent c.1749 p.F583 0.929 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 59 13 18.06 82 0 0.00 VWA2 340706 genome.wustl.edu 37 10 116050048 116050048 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 116050048 116050048 G C SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known missense c.2172 p.E724D 0.995 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 24 18 42.86 35 0 0.00 VWA3A 146177 genome.wustl.edu 37 16 22122307 22122307 + Silent SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 16 22122307 22122307 C T SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known silent c.681 p.S227 0.035 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 30 5 14.29 12 0 0.00 VWA3A 146177 genome.wustl.edu 37 16 22126767 22126767 + Missense_Mutation SNP T T G TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 16 22126767 22126767 T G SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known missense c.789 p.D263E 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 7 3 30.00 13 0 0.00 VWA3A 146177 genome.wustl.edu 37 16 22126785 22126785 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 16 22126785 22126785 G A SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known missense c.807 p.M269I 0.414 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 14 11 44.00 28 0 0.00 VWA3A 146177 genome.wustl.edu 37 16 22132909 22132909 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 22132909 22132909 C T SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known nonsense c.1327 p.Q443* 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 307 73 19.11 300 0 0.00 VWA3A 146177 genome.wustl.edu 37 16 22157643 22157643 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 22157643 22157643 G C SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known missense c.2817 p.Q939H 0.998 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 27 11 28.95 35 0 0.00 VWA3B 200403 genome.wustl.edu 37 2 98737818 98737818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98737818 98737818 C G SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.599 p.S200C 0.327 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 35 13 27.08 32 0 0.00 VWA3B 200403 genome.wustl.edu 37 2 98779316 98779316 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 98779316 98779316 G A SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.991 p.A331T 0.995 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 60 26 30.23 44 0 0.00 VWA3B 200403 genome.wustl.edu 37 2 98834374 98834374 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 98834374 98834374 C G SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.1902 p.F634L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 28 15 34.88 64 0 0.00 VWA3B 200403 genome.wustl.edu 37 2 98861919 98861919 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 98861919 98861919 G A SNP VWA3B ENST00000490947 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VWA3B HGNC ENSG00000168658 12 4 25.00 32 0 0.00 VWA3B 200403 genome.wustl.edu 37 2 98928686 98928686 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 98928686 98928686 G A SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known silent c.3759 p.A1253 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 31 6 16.22 41 0 0.00 VWA5A 4013 genome.wustl.edu 37 11 123989239 123989239 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123989239 123989239 G T SNP VWA5A ENST00000392748 human ensembl 70_37 +1 known splice_site c.470-1 e4-1 0.101 - - - no_errors VWA5A HGNC ENSG00000110002 15 12 44.44 47 0 0.00 VWA5A 4013 genome.wustl.edu 37 11 123993733 123993733 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 11 123993733 123993733 C T SNP VWA5A ENST00000392748 human ensembl 70_37 +1 known missense c.827 p.S276L 0.026 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 10 17 62.96 53 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20645121 20645121 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 20645121 20645121 G T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.748 p.A250S 0.991 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 20 5 20.00 30 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20645915 20645915 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 20645915 20645915 G A SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.882 p.M294I 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 12 10 43.48 23 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20649867 20649867 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 20649867 20649867 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.985 p.R329C 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 27 13 32.50 48 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20654436 20654436 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 20654436 20654436 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known silent c.1197 p.I399 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 53 38 41.76 95 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20664309 20664309 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 20664309 20664309 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.2113 p.R705W 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 29 16 35.56 25 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20669102 20669102 + Nonsense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 20669102 20669102 G T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known nonsense c.2311 p.E771* 0.863 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 49 18 26.87 89 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20669844 20669844 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 1 20669844 20669844 G A SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.2584 p.D862N 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 7 4 36.36 19 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20674846 20674846 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20674846 20674846 G A SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.2870 p.G957E 0.647 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 75 31 28.97 76 0 0.00 VWA5B1 127731 genome.wustl.edu 37 1 20675597 20675597 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 20675597 20675597 G C SNP VWA5B1 ENST00000375083 human ensembl 70_37 +1 known missense c.2882 p.R961T 0.008 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 15 16 51.61 31 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183951032 183951032 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 183951032 183951032 C T SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.377 p.A126V 0.790 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 14 6 28.57 14 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183951051 183951051 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 183951051 183951051 G C SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known silent c.396 p.V132 1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 61 7 10.29 34 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183953000 183953000 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 183953000 183953000 G A SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known silent c.1005 p.L335 1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 77 10 11.49 86 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183955029 183955029 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 183955029 183955029 C T SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.1549 p.R517W 1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 43 17 28.33 59 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183956545 183956545 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 3 183956545 183956545 G A SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.2086 p.E696K 0.009 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 50 6 10.71 41 0 0.00 VWA5B2 90113 genome.wustl.edu 37 3 183956658 183956658 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 183956658 183956658 C G SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.2199 p.F733L 0.999 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 50 6 10.71 44 0 0.00 VWA7 80737 genome.wustl.edu 37 6 31733527 31733527 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 31733527 31733527 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2548 p.R850W 0.001 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 3 35 92.11 29 0 0.00 VWA7 80737 genome.wustl.edu 37 6 31733527 31733527 + Missense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 6 31733527 31733527 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2548 p.R850W 0.001 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 4 16 80.00 13 0 0.00 VWA7 80737 genome.wustl.edu 37 6 31733689 31733689 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 31733689 31733689 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2470 p.R824W 1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 48 23 32.39 58 0 0.00 VWA7 80737 genome.wustl.edu 37 6 31734272 31734272 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 31734272 31734272 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known nonsense c.2152 p.Q718* 1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 15 12 44.44 37 0 0.00 VWA7 80737 genome.wustl.edu 37 6 31744617 31744617 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 31744617 31744617 C G SNP VWA7 ENST00000497645 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VWA7 HGNC ENSG00000204396 15 16 51.61 20 0 0.00 VWA8 23078 genome.wustl.edu 37 13 42144794 42144794 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 42144794 42144794 C G SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known missense c.5419 p.E1807Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 16 12 42.86 38 0 0.00 VWA8 23078 genome.wustl.edu 37 13 42164839 42164839 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 42164839 42164839 C T SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known silent c.5049 p.K1683 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 47 12 20.34 61 0 0.00 VWA8 23078 genome.wustl.edu 37 13 42277492 42277492 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 42277492 42277492 T G SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known missense c.3172 p.S1058R 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 18 13 41.94 37 0 0.00 VWA9 81556 genome.wustl.edu 37 15 65871854 65871854 + Silent SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 15 65871854 65871854 G A SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known silent c.1557 p.A519 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 21 8 27.59 36 0 0.00 VWA9 81556 genome.wustl.edu 37 15 65874292 65874292 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 65874292 65874292 C T SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known silent c.1413 p.K471 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 89 54 37.76 78 0 0.00 VWA9 81556 genome.wustl.edu 37 15 65888144 65888144 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65888144 65888144 A C SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known missense c.876 p.F292L 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 16 2 11.11 38 0 0.00 VWA9 81556 genome.wustl.edu 37 15 65903420 65903420 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 15 65903420 65903420 C T SNP VWA9 ENST00000567940 human ensembl 70_37 -1 known missense c.50 p.R17Q 0.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 33 23 40.35 47 0 0.00 VWC2 375567 genome.wustl.edu 37 7 49815707 49815707 + Nonsense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 49815707 49815707 C T SNP VWC2 ENST00000340652 human ensembl 70_37 +1 known nonsense c.676 p.Q226* 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 45 14 23.73 27 0 0.00 VWCE 220001 genome.wustl.edu 37 11 61026536 61026536 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 61026536 61026536 C T SNP VWCE ENST00000335613 human ensembl 70_37 -1 known missense c.2479 p.A827T 0.000 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 58 27 31.76 79 0 0.00 VWCE 220001 genome.wustl.edu 37 11 61034994 61034994 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 61034994 61034994 G A SNP VWCE ENST00000335613 human ensembl 70_37 -1 known silent c.1905 p.I635 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 45 13 22.41 70 0 0.00 VWCE 220001 genome.wustl.edu 37 11 61049276 61049276 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 61049276 61049276 C G SNP VWCE ENST00000335613 human ensembl 70_37 -1 known missense c.769 p.D257H 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 31 31 50.00 39 0 0.00 VWDE 221806 genome.wustl.edu 37 7 12419153 12419153 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 12419153 12419153 G C SNP VWDE ENST00000452576 human ensembl 70_37 -1 known missense c.829 p.H277D 0.361 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 25 8 23.53 33 0 0.00 VWF 7450 genome.wustl.edu 37 12 6062680 6062682 + In_Frame_Del DEL TCC TCC - TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 6062680 6062682 TCC - DEL VWF ENST00000261405 human ensembl 70_37 -1 known in_frame_del c.7968_7966 p.G2656in_frame_del 0.994:1.000:1.000 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 61 72 54.14 94 0 0.00 VWF 7450 genome.wustl.edu 37 12 6120958 6120958 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 12 6120958 6120958 G A SNP VWF ENST00000261405 human ensembl 70_37 -1 known silent c.5667 p.P1889 0.981 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 30 13 30.23 45 0 0.00 VWF 7450 genome.wustl.edu 37 12 6128108 6128108 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6128108 6128108 C T SNP VWF ENST00000261405 human ensembl 70_37 -1 known silent c.4476 p.R1492 0.001 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 38 31 44.93 45 0 0.00 VWF 7450 genome.wustl.edu 37 12 6128535 6128535 + Missense_Mutation SNP G G A TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 12 6128535 6128535 G A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.4049 p.A1350V 0.767 pfam_VWF_A,smart_VWF_A,pirsf_VWF,pfscan_VWF_A pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 75 22 22.45 92 0 0.00 VWF 7450 genome.wustl.edu 37 12 6128901 6128901 + Missense_Mutation SNP T T A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 6128901 6128901 T A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.3683 p.D1228V 1.000 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 93 33 26.19 160 0 0.00 VWF 7450 genome.wustl.edu 37 12 6132797 6132797 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 6132797 6132797 G A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.3379 p.P1127S 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 99 87 46.77 165 0 0.00 VWF 7450 genome.wustl.edu 37 12 6138539 6138539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6138539 6138539 C A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.2936 p.S979I 0.001 pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 15 5 25.00 26 0 0.00 VWF 7450 genome.wustl.edu 37 12 6230362 6230362 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 6230362 6230362 C G SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.198 p.Q66H 0.904 pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 35 23 39.66 44 0 0.00 VWF 7450 genome.wustl.edu 37 12 6232014 6232014 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 6232014 6232014 C T SNP VWF ENST00000572068 human ensembl 70_37 -1 known missense c.43 p.G15R 0.000 NULL pfam_VWF_type-D,smart_VWF_type-D - no_errors VWF HGNC ENSG00000110799 64 14 17.72 87 0 0.00 WAC 51322 genome.wustl.edu 37 10 28821811 28821811 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 28821811 28821811 G A SNP WAC ENST00000528491 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WAC HGNC ENSG00000095787 77 39 33.62 84 0 0.00 WAC 51322 genome.wustl.edu 37 10 28821934 28821934 + RNA SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 28821934 28821934 G T SNP WAC ENST00000528491 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WAC HGNC ENSG00000095787 14 13 48.15 15 0 0.00 WAC 51322 genome.wustl.edu 37 10 28824542 28824542 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 10 28824542 28824542 G A SNP WAC ENST00000354911 human ensembl 70_37 +1 known missense c.130 p.E44K 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 112 27 19.42 134 0 0.00 WAC 51322 genome.wustl.edu 37 10 28827295 28827295 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 28827295 28827295 G C SNP WAC ENST00000424883 human ensembl 70_37 +1 known silent c.243 p.L81 0.023 NULL NULL - no_errors WAC HGNC ENSG00000095787 2 7 77.78 8 0 0.00 WAC 51322 genome.wustl.edu 37 10 28899712 28899712 + Frame_Shift_Del DEL C C - TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 28899712 28899712 C - DEL WAC ENST00000354911 human ensembl 70_37 +1 known frame_shift_del c.1250 p.T417fs 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 47 19 28.79 79 0 0.00 WAC 51322 genome.wustl.edu 37 10 28900809 28900809 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 28900809 28900809 C T SNP WAC ENST00000354911 human ensembl 70_37 +1 known silent c.1395 p.I465 0.999 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 77 9 10.47 79 0 0.00 WAPAL 23063 genome.wustl.edu 37 10 88196033 88196033 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 88196033 88196033 C T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC ENSG00000062650 25 11 30.56 44 0 0.00 WAPAL 23063 genome.wustl.edu 37 10 88196319 88196319 + RNA SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 88196319 88196319 C T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC ENSG00000062650 25 7 21.88 52 0 0.00 WAPAL 23063 genome.wustl.edu 37 10 88196713 88196713 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 88196713 88196713 G T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC ENSG00000062650 21 4 16.00 38 0 0.00 WAPAL 23063 genome.wustl.edu 37 10 88213057 88213057 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 88213057 88213057 G C SNP WAPAL ENST00000342368 human ensembl 70_37 -1 known missense c.3124 p.L1042V 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 36 24 40.00 61 0 0.00 WAPAL 23063 genome.wustl.edu 37 10 88259793 88259793 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88259793 88259793 C G SNP WAPAL ENST00000342368 human ensembl 70_37 -1 known missense c.1462 p.D488H 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 45 16 26.23 31 0 0.00 WARS 7453 genome.wustl.edu 37 14 100820164 100820164 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 100820164 100820164 C T SNP WARS ENST00000355338 human ensembl 70_37 -1 known missense c.585 p.M195I 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 43 32 42.67 100 0 0.00 WARS2 10352 genome.wustl.edu 37 1 119683254 119683254 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 119683254 119683254 G A SNP WARS2 ENST00000235521 human ensembl 70_37 -1 known missense c.14 p.S5L 0.335 NULL pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 29 11 27.50 34 0 0.00 WAS 7454 genome.wustl.edu 37 X 48547408 48547408 + Silent SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 48547408 48547408 C A SNP WAS ENST00000376701 human ensembl 70_37 +1 known silent c.1291 p.R431 1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 19 7 26.92 39 0 0.00 WASF1 8936 genome.wustl.edu 37 6 110423187 110423187 + Nonsense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 110423187 110423187 G A SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 53 20 27.40 71 0 0.00 WASF1 8936 genome.wustl.edu 37 6 110423276 110423276 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110423276 110423276 G C SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known nonsense c.1037 p.S346* 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 30 20 40.00 43 0 0.00 WASF1 8936 genome.wustl.edu 37 6 110424697 110424697 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 110424697 110424697 C G SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known missense c.777 p.Q259H 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 65 27 29.35 103 0 0.00 WASF2 10163 genome.wustl.edu 37 1 27734742 27734742 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 27734742 27734742 C T SNP WASF2 ENST00000430629 human ensembl 70_37 -1 known missense c.1438 p.E480K 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 34 24 41.38 50 0 0.00 WASF2 10163 genome.wustl.edu 37 1 27742548 27742548 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 27742548 27742548 G C SNP WASF2 ENST00000430629 human ensembl 70_37 -1 known missense c.468 p.F156L 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 36 18 33.33 66 0 0.00 WASF3 10810 genome.wustl.edu 37 13 27250824 27250824 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 27250824 27250824 G A SNP WASF3 ENST00000335327 human ensembl 70_37 +1 known missense c.679 p.G227R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 72 15 17.24 72 0 0.00 WASH3P 374666 genome.wustl.edu 37 15 102506359 102506359 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 102506359 102506359 G T SNP WASH3P ENST00000354296 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 116 21 15.33 158 0 0.00 WASH3P 374666 genome.wustl.edu 37 15 102516413 102516413 + RNA SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 15 102516413 102516413 C T SNP WASH3P ENST00000557932 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors WASH3P HGNC ENSG00000185596 18 4 17.39 23 0 0.00 WASH6P 653440 genome.wustl.edu 37 X 155250676 155250676 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 155250676 155250676 C T SNP WASH6P ENST00000359512 human ensembl 70_37 +1 known silent c.51 p.I17 0.001 NULL pfam_WASH_WASD - no_errors WASH6P HGNC ENSG00000182484 45 13 22.41 95 0 0.00 WASH6P 653440 genome.wustl.edu 37 X 155252379 155252379 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 155252379 155252379 C T SNP WASH6P ENST00000359512 human ensembl 70_37 +1 known silent c.600 p.V200 1.000 NULL pfam_WASH_WASD - no_errors WASH6P HGNC ENSG00000182484 10 5 33.33 22 0 0.00 WASH6P 653440 genome.wustl.edu 37 X 155254003 155254003 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 155254003 155254003 T G SNP WASH6P ENST00000461007 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors WASH6P HGNC ENSG00000182484 111 14 11.20 124 1 0.80 WASH6P 653440 genome.wustl.edu 37 X 155254781 155254781 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 155254781 155254781 G A SNP WASH6P ENST00000461007 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors WASH6P HGNC ENSG00000182484 7 7 50.00 16 0 0.00 WASH6P 653440 genome.wustl.edu 37 X 155254902 155254902 + RNA SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 X 155254902 155254902 C T SNP WASH6P ENST00000461007 human ensembl 70_37 +1 known rna NULL NULL 0.602 - - - no_errors WASH6P HGNC ENSG00000182484 89 37 29.37 132 0 0.00 WASIR2 100132169 genome.wustl.edu 37 16 73077 73077 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 73077 73077 G A SNP WASIR2 ENST00000329244 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WASIR2 HGNC ENSG00000231439 88 30 25.42 79 0 0.00 WASL 8976 genome.wustl.edu 37 7 123329188 123329188 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 123329188 123329188 T A SNP WASL ENST00000223023 human ensembl 70_37 -1 known missense c.1364 p.E455V 0.996 superfamily_WASP_C pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 27 5 15.62 40 0 0.00 WASL 8976 genome.wustl.edu 37 7 123332484 123332485 + Frame_Shift_Ins INS - - T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 123332484 123332485 - T INS WASL ENST00000223023 human ensembl 70_37 -1 known frame_shift_ins c.1264_1263 p.V421fs 1.000:1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 26 4 13.33 41 0 0.00 WASL 8976 genome.wustl.edu 37 7 123332690 123332690 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 123332690 123332690 G C SNP WASL ENST00000223023 human ensembl 70_37 -1 known nonsense c.1058 p.S353* 1.000 NULL pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 68 29 29.90 112 0 0.00 WASL 8976 genome.wustl.edu 37 7 123388786 123388786 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 123388786 123388786 C T SNP WASL ENST00000223023 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 104 29 21.80 134 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74685709 74685709 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74685709 74685709 C T SNP WBP1 ENST00000464774 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors WBP1 HGNC ENSG00000239779 56 18 24.32 62 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74685750 74685750 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74685750 74685750 G C SNP WBP1 ENST00000233615 human ensembl 70_37 +1 known silent c.21 p.G7 0.999 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 68 15 18.07 69 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74685760 74685760 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74685760 74685760 G C SNP WBP1 ENST00000233615 human ensembl 70_37 +1 known missense c.31 p.E11Q 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 28 7 20.00 30 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74686223 74686223 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74686223 74686223 C G SNP WBP1 ENST00000393972 human ensembl 70_37 +1 novel missense c.169 p.L57V 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 17 20 54.05 36 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74686631 74686631 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74686631 74686631 C G SNP WBP1 ENST00000464774 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors WBP1 HGNC ENSG00000239779 32 7 17.95 31 0 0.00 WBP1 23559 genome.wustl.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 2 74687542 74687543 - C INS WBP1 ENST00000233615 human ensembl 70_37 +1 known frame_shift_ins c.544_545 p.H185fs 0.963:0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 87 28 24.35 85 0 0.00 WBP11 51729 genome.wustl.edu 37 12 14940418 14940418 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 14940418 14940418 G A SNP WBP11 ENST00000261167 human ensembl 70_37 -1 known missense c.1507 p.R503C 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 13 2 13.33 38 0 0.00 WBP11P1 441818 genome.wustl.edu 37 18 30092482 30092482 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 30092482 30092482 C T SNP WBP11P1 ENST00000567636 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors WBP11P1 HGNC ENSG00000260389 27 17 38.64 36 0 0.00 WBP11P1 441818 genome.wustl.edu 37 18 30092860 30092860 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 18 30092860 30092860 G T SNP WBP11P1 ENST00000567636 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors WBP11P1 HGNC ENSG00000260389 48 23 32.39 67 0 0.00 WBP2NL 164684 genome.wustl.edu 37 22 42394815 42394815 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42394815 42394815 G C SNP WBP2NL ENST00000461730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WBP2NL HGNC ENSG00000183066 29 9 23.68 39 0 0.00 WBP2NL 164684 genome.wustl.edu 37 22 42423091 42423091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 42423091 42423091 G A SNP WBP2NL ENST00000328823 human ensembl 70_37 +1 known missense c.836 p.G279E 0.000 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2NL HGNC ENSG00000183066 23 18 43.90 51 0 0.00 WBP4 11193 genome.wustl.edu 37 13 41639317 41639317 + Silent SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 13 41639317 41639317 G A SNP WBP4 ENST00000379487 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 NULL pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 26 28 51.85 50 0 0.00 WBP4 11193 genome.wustl.edu 37 13 41639425 41639426 + Splice_Site DEL TA TA - TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 41639425 41639426 TA - DEL WBP4 ENST00000379487 human ensembl 70_37 +1 known splice_site_del c.262+2_262+1 e4+2 1.000:0.999 - - - no_errors WBP4 HGNC ENSG00000120688 4 2 33.33 11 0 0.00 WBSCR16 81554 genome.wustl.edu 37 7 74466872 74466872 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 74466872 74466872 G A SNP WBSCR16 ENST00000329959 human ensembl 70_37 -1 known silent c.1263 p.N421 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors WBSCR16 HGNC ENSG00000174374 30 19 38.78 97 0 0.00 WBSCR16 81554 genome.wustl.edu 37 7 74486521 74486521 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 74486521 74486521 C T SNP WBSCR16 ENST00000329959 human ensembl 70_37 -1 known silent c.387 p.T129 0.947 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors WBSCR16 HGNC ENSG00000174374 70 28 28.57 48 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 70597809 70597809 + Silent SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 70597809 70597809 C G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.21 p.V7 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 66 33 33.33 64 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 70597904 70597904 + Missense_Mutation SNP T T G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 70597904 70597904 T G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.116 p.F39C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 26 7 21.21 29 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 70853384 70853384 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 70853384 70853384 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.586 p.E196K 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 13 14 51.85 31 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 70885922 70885922 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 70885922 70885922 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.793 p.E265K 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 45 16 26.23 82 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71130461 71130461 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 71130461 71130461 G C SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.1146 p.K382N 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 20 3 13.04 52 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71130547 71130547 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 71130547 71130547 C G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.1232 p.S411C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 34 10 22.73 41 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71134986 71134986 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 71134986 71134986 C T SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.1296 p.S432 0.011 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 29 10 25.64 33 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71177116 71177116 + Silent SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 71177116 71177116 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.1782 p.K594 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 40 12 23.08 31 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71177239 71177239 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 71177239 71177239 C G SNP WBSCR17 ENST00000467723 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WBSCR17 HGNC ENSG00000185274 5 5 50.00 8 0 0.00 WBSCR17 64409 genome.wustl.edu 37 7 71178134 71178134 + RNA SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 7 71178134 71178134 G A SNP WBSCR17 ENST00000467723 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WBSCR17 HGNC ENSG00000185274 12 5 29.41 12 0 0.00 WDFY1 57590 genome.wustl.edu 37 2 224746785 224746785 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 224746785 224746785 T G SNP WDFY1 ENST00000233055 human ensembl 70_37 -1 known missense c.938 p.H313P 1.000 pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 19 10 34.48 64 0 0.00 WDFY2 115825 genome.wustl.edu 37 13 52158943 52158943 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 52158943 52158943 C T SNP WDFY2 ENST00000298125 human ensembl 70_37 +1 known silent c.120 p.I40 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 73 35 32.41 151 0 0.00 WDFY2 115825 genome.wustl.edu 37 13 52293346 52293346 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 13 52293346 52293346 G C SNP WDFY2 ENST00000298125 human ensembl 70_37 +1 known missense c.347 p.R116T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 33 21 38.89 78 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85594031 85594031 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85594031 85594031 C T SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.10571 p.R3524Q 0.977 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 20 20 50.00 45 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85605214 85605214 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 85605214 85605214 A G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.9608 p.V3203A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 62 20 24.39 94 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85614120 85614120 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 85614120 85614120 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.8967 p.I2989M 0.398 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 20 15 42.86 38 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85623529 85623529 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85623529 85623529 A G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.8573 p.F2858S 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 21 8 27.59 46 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85664936 85664936 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 85664936 85664936 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.5990 p.S1997C 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 34 6 15.00 32 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85696122 85696122 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85696122 85696122 C A SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.4605 p.K1535N 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 27 10 27.03 47 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85707190 85707190 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 4 85707190 85707190 G A SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.4004 p.T1335I 0.999 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 32 30 48.39 59 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85710969 85710969 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 4 85710969 85710969 C T SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known nonsense c.3579 p.W1193* 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 32 8 20.00 57 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85731124 85731124 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 85731124 85731124 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known nonsense c.2261 p.S754* 0.002 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 60 23 27.71 101 0 0.00 WDFY3 23001 genome.wustl.edu 37 4 85731460 85731460 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 85731460 85731460 C G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.1925 p.R642T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 13 4 23.53 50 0 0.00 WDFY3-AS2 404201 genome.wustl.edu 37 4 85888148 85888148 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 85888148 85888148 C T SNP WDFY3-AS2 ENST00000318186 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDFY3-AS2 HGNC ENSG00000180769 6 32 84.21 30 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49917830 49917830 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 49917830 49917830 C G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.53 p.S18C 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 42 22 34.38 50 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49931577 49931577 + Nonsense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 49931577 49931577 G T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.090 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 26 10 27.78 30 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49934112 49934112 + Nonsense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 49934112 49934112 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known nonsense c.778 p.Q260* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 17 7 29.17 8 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49939252 49939252 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 49939252 49939252 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known silent c.1227 p.I409 0.998 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 20 8 27.59 33 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49939277 49939277 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 10 49939277 49939277 C G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.1252 p.R418G 0.105 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 30 4 11.76 48 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49944021 49944021 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 49944021 49944021 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.1784 p.S595L 0.994 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 32 18 36.00 44 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49951299 49951299 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 10 49951299 49951299 G A SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.2165 p.G722E 0.692 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 19 15 44.12 38 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 49997929 49997929 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 49997929 49997929 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.3965 p.S1322L 0.988 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 78 39 33.33 97 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 50004403 50004403 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 50004403 50004403 A G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.4318 p.I1440V 0.649 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 56 30 34.88 112 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 50014048 50014048 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50014048 50014048 G T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known splice_site c.4647-1 e26-1 0.998 - - - no_errors WDFY4 HGNC ENSG00000128815 20 21 51.22 86 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 50014080 50014080 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 50014080 50014080 C A SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.4678 p.P1560T 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 118 49 29.34 79 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 50034953 50034953 + Missense_Mutation SNP A A T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 50034953 50034953 A T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.6220 p.S2074C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 26 4 13.33 37 0 0.00 WDFY4 57705 genome.wustl.edu 37 10 50174698 50174698 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 50174698 50174698 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.8564 p.P2855L 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 79 36 31.30 236 1 0.42 WDHD1 11169 genome.wustl.edu 37 14 55422403 55422403 + Missense_Mutation SNP C C A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 55422403 55422403 C A SNP WDHD1 ENST00000360586 human ensembl 70_37 -1 known missense c.2926 p.A976S 1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 24 3 11.11 26 0 0.00 WDPCP 51057 genome.wustl.edu 37 2 63401965 63401965 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 63401965 63401965 G A SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.1918 p.L640F 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 36 14 28.00 131 0 0.00 WDPCP 51057 genome.wustl.edu 37 2 63401965 63401965 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 2 63401965 63401965 G A SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.1918 p.L640F 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 51 7 12.07 31 0 0.00 WDPCP 51057 genome.wustl.edu 37 2 63486499 63486499 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 2 63486499 63486499 C T SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.1858 p.E620K 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 40 27 40.30 67 0 0.00 WDPCP 51057 genome.wustl.edu 37 2 63660922 63660922 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 63660922 63660922 C G SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.782 p.R261T 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 72 10 12.20 53 0 0.00 WDR1 9948 genome.wustl.edu 37 4 10083053 10083053 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 10083053 10083053 C A SNP WDR1 ENST00000382452 human ensembl 70_37 -1 known silent c.1212 p.V404 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR1 HGNC ENSG00000071127 36 13 26.53 74 0 0.00 WDR1 9948 genome.wustl.edu 37 4 10117966 10117966 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 10117966 10117966 G A SNP WDR1 ENST00000505851 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR1 HGNC ENSG00000071127 4 5 55.56 21 0 0.00 WDR11 55717 genome.wustl.edu 37 10 122633397 122633397 + Silent SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 122633397 122633397 G C SNP WDR11 ENST00000263461 human ensembl 70_37 +1 known silent c.1518 p.L506 0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 38 17 30.91 41 0 0.00 WDR11 55717 genome.wustl.edu 37 10 122664255 122664255 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 122664255 122664255 C T SNP WDR11 ENST00000263461 human ensembl 70_37 +1 known missense c.3125 p.S1042L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 37 14 27.45 75 0 0.00 WDR11 55717 genome.wustl.edu 37 10 122668664 122668664 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 122668664 122668664 C T SNP WDR11 ENST00000497136 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC ENSG00000120008 35 4 10.26 38 0 0.00 WDR11 55717 genome.wustl.edu 37 10 122668850 122668850 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 122668850 122668850 G C SNP WDR11 ENST00000497136 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WDR11 HGNC ENSG00000120008 11 8 42.11 39 0 0.00 WDR12 55759 genome.wustl.edu 37 2 203748344 203748344 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 203748344 203748344 C A SNP WDR12 ENST00000261015 human ensembl 70_37 -1 known missense c.1109 p.W370L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR12 HGNC ENSG00000138442 35 4 10.26 80 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48456174 48456174 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48456174 48456174 G A SNP WDR13 ENST00000486125 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors WDR13 HGNC ENSG00000101940 13 6 31.58 11 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48458814 48458814 + Missense_Mutation SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc X 48458814 48458814 C T SNP WDR13 ENST00000218056 human ensembl 70_37 +1 known missense c.631 p.R211C 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 66 8 10.81 66 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48458940 48458940 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48458940 48458940 C T SNP WDR13 ENST00000218056 human ensembl 70_37 +1 known nonsense c.757 p.R253* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 41 32 43.84 82 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48460336 48460336 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 X 48460336 48460336 C T SNP WDR13 ENST00000218056 human ensembl 70_37 +1 known silent c.996 p.L332 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 20 5 20.00 41 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48462649 48462649 + RNA SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 48462649 48462649 C T SNP WDR13 ENST00000492873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR13 HGNC ENSG00000101940 56 14 20.00 47 0 0.00 WDR13 64743 genome.wustl.edu 37 X 48462652 48462652 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48462652 48462652 C T SNP WDR13 ENST00000492873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR13 HGNC ENSG00000101940 24 31 56.36 37 0 0.00 WDR16 146845 genome.wustl.edu 37 17 9480072 9480072 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 9480072 9480072 C G SNP WDR16 ENST00000352665 human ensembl 70_37 +1 known missense c.60 p.I20M 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 12 6 33.33 24 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177046324 177046324 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 177046324 177046324 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.680 p.T227M 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 3 44 93.62 120 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177046324 177046324 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 4 177046324 177046324 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.680 p.T227M 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 6 30 83.33 40 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177046476 177046476 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 177046476 177046476 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.832 p.P278S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 31 12 27.91 45 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177046476 177046476 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 177046476 177046476 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.832 p.P278S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 44 5 10.20 74 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177052785 177052785 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 177052785 177052785 C G SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.1066 p.Q356E 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 232 76 24.68 333 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177058704 177058704 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 177058704 177058704 G A SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.1373 p.R458Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 70 63 46.67 151 0 0.00 WDR17 116966 genome.wustl.edu 37 4 177082071 177082071 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 177082071 177082071 G A SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.2740 p.E914K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 34 24 40.68 25 0 0.00 WDR18 57418 genome.wustl.edu 37 19 991247 991247 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 991247 991247 C T SNP WDR18 ENST00000251289 human ensembl 70_37 +1 known missense c.827 p.S276L 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 53 15 22.06 46 0 0.00 WDR19 57728 genome.wustl.edu 37 4 39205309 39205309 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 39205309 39205309 G C SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known missense c.570 p.K190N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 42 17 28.81 51 0 0.00 WDR19 57728 genome.wustl.edu 37 4 39217800 39217800 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39217800 39217800 C T SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known nonsense c.1219 p.R407* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 9 4 30.77 17 0 0.00 WDR19 57728 genome.wustl.edu 37 4 39246134 39246134 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 39246134 39246134 C T SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known silent c.2607 p.Y869 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 93 17 15.45 122 0 0.00 WDR19 57728 genome.wustl.edu 37 4 39271645 39271645 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 39271645 39271645 G C SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known silent c.3408 p.L1136 0.917 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 40 20 33.33 58 0 0.00 WDR24 84219 genome.wustl.edu 37 16 736989 736989 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 736989 736989 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.1477 p.E493K 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 32 21 39.62 23 0 0.00 WDR24 84219 genome.wustl.edu 37 16 737621 737621 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 737621 737621 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known silent c.990 p.E330 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 24 17 41.46 33 0 0.00 WDR24 84219 genome.wustl.edu 37 16 739196 739196 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 739196 739196 C G SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.631 p.D211H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 73 21 22.34 83 0 0.00 WDR24 84219 genome.wustl.edu 37 16 739992 739992 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 739992 739992 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.169 p.D57N 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 8 8 50.00 16 0 0.00 WDR26 80232 genome.wustl.edu 37 1 224612233 224612233 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 224612233 224612233 G T SNP WDR26 ENST00000414423 human ensembl 70_37 -1 known missense c.751 p.H251N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 9 13 59.09 36 0 0.00 WDR26 80232 genome.wustl.edu 37 1 224621580 224621580 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 224621580 224621580 G A SNP WDR26 ENST00000414423 human ensembl 70_37 -1 known silent c.228 p.V76 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 131 40 23.39 148 0 0.00 WDR27 253769 genome.wustl.edu 37 6 169959695 169959695 + RNA SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 6 169959695 169959695 C A SNP WDR27 ENST00000546525 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors WDR27 HGNC ENSG00000184465 49 6 10.91 40 0 0.00 WDR27 253769 genome.wustl.edu 37 6 170033055 170033055 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 170033055 170033055 G C SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.2211 p.I737M 0.832 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 43 17 28.33 84 0 0.00 WDR27 253769 genome.wustl.edu 37 6 170043795 170043795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 170043795 170043795 G A SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.1745 p.S582L 0.928 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 25 7 21.88 38 0 0.00 WDR27 253769 genome.wustl.edu 37 6 170065626 170065626 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 170065626 170065626 C T SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.739 p.D247N 0.006 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 25 6 19.35 29 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118477108 118477108 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 118477108 118477108 C T SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known nonsense c.184 p.Q62* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 53 40 42.11 135 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118482165 118482165 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118482165 118482165 G A SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known silent c.645 p.L215 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 143 38 20.99 167 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118483799 118483799 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 118483799 118483799 G C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.842 p.R281T 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 36 24 40.00 45 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118485082 118485082 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 118485082 118485082 G C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.996 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 17 34 65.38 46 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118486093 118486093 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 1 118486093 118486093 T C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1172 p.L391S 0.001 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 36 20 35.71 71 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118491033 118491033 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118491033 118491033 G A SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known silent c.1428 p.G476 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 39 16 29.09 78 0 0.00 WDR3 10885 genome.wustl.edu 37 1 118491107 118491107 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 118491107 118491107 C T SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1502 p.S501F 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 41 12 22.64 64 0 0.00 WDR31 114987 genome.wustl.edu 37 9 116082750 116082750 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 116082750 116082750 C G SNP WDR31 ENST00000374193 human ensembl 70_37 -1 known missense c.667 p.A223P 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 27 10 27.03 32 0 0.00 WDR31 114987 genome.wustl.edu 37 9 116093370 116093370 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 116093370 116093370 C T SNP WDR31 ENST00000374193 human ensembl 70_37 -1 known missense c.143 p.R48K 0.014 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 11 12 52.17 22 0 0.00 WDR31 114987 genome.wustl.edu 37 9 116098697 116098697 + RNA SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 9 116098697 116098697 C G SNP WDR31 ENST00000461942 human ensembl 70_37 -1 known rna NULL NULL 0.975 - - - no_errors WDR31 HGNC ENSG00000148225 38 26 40.62 40 0 0.00 WDR33 55339 genome.wustl.edu 37 2 128464072 128464072 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128464072 128464072 G C SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.3836 p.S1279C 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 37 20 35.09 37 0 0.00 WDR33 55339 genome.wustl.edu 37 2 128471326 128471326 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 128471326 128471326 G A SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known nonsense c.3139 p.R1047* 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 41 11 21.15 63 0 0.00 WDR33 55339 genome.wustl.edu 37 2 128474785 128474785 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 128474785 128474785 C T SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.2813 p.G938E 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 36 8 18.18 45 0 0.00 WDR33 55339 genome.wustl.edu 37 2 128479457 128479457 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 2 128479457 128479457 C G SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.1624 p.E542Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 63 16 20.00 105 0 0.00 WDR33 55339 genome.wustl.edu 37 2 128481925 128481925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 128481925 128481925 C T SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.1178 p.G393D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 23 5 17.86 21 0 0.00 WDR35 57539 genome.wustl.edu 37 2 20113420 20113420 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 20113420 20113420 C A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known nonsense c.3445 p.E1149* 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 49 35 41.67 76 0 0.00 WDR35 57539 genome.wustl.edu 37 2 20114024 20114024 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20114024 20114024 C G SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known missense c.3169 p.D1057H 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 22 15 40.54 40 0 0.00 WDR35 57539 genome.wustl.edu 37 2 20174334 20174334 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20174334 20174334 G A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known missense c.631 p.H211Y 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 17 5 22.73 30 0 0.00 WDR35 57539 genome.wustl.edu 37 2 20189768 20189768 + Silent SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 20189768 20189768 G A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known silent c.9 p.F3 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 14 4 22.22 18 0 0.00 WDR36 134430 genome.wustl.edu 37 5 110428117 110428117 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 110428117 110428117 C G SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known nonsense c.131 p.S44* 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 49 15 23.44 47 0 0.00 WDR36 134430 genome.wustl.edu 37 5 110428130 110428130 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 110428130 110428130 G A SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known silent c.144 p.L48 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 17 11 39.29 27 0 0.00 WDR36 134430 genome.wustl.edu 37 5 110440408 110440408 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 5 110440408 110440408 G C SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known missense c.1087 p.D363H 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 13 24 64.86 68 0 0.00 WDR36 134430 genome.wustl.edu 37 5 110442995 110442995 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 110442995 110442995 G A SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known missense c.1351 p.E451K 1.000 superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 21 7 25.00 34 0 0.00 WDR37 22884 genome.wustl.edu 37 10 1139409 1139409 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 1139409 1139409 C T SNP WDR37 ENST00000263150 human ensembl 70_37 +1 known missense c.622 p.H208Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 24 15 38.46 43 0 0.00 WDR37 22884 genome.wustl.edu 37 10 1142135 1142135 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 1142135 1142135 C T SNP WDR37 ENST00000263150 human ensembl 70_37 +1 known silent c.675 p.I225 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 39 12 23.53 64 0 0.00 WDR38 401551 genome.wustl.edu 37 9 127618159 127618159 + Silent SNP G G A TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 9 127618159 127618159 G A SNP WDR38 ENST00000373574 human ensembl 70_37 +1 known silent c.327 p.E109 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 44 9 16.67 23 0 0.00 WDR38 401551 genome.wustl.edu 37 9 127619875 127619875 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 127619875 127619875 G A SNP WDR38 ENST00000373574 human ensembl 70_37 +1 known missense c.911 p.R304H 0.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 39 12 23.53 57 0 0.00 WDR4 10785 genome.wustl.edu 37 21 44273714 44273714 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 21 44273714 44273714 G A SNP WDR4 ENST00000330317 human ensembl 70_37 -1 known silent c.940 p.L314 0.069 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 53 11 17.19 59 0 0.00 WDR4 10785 genome.wustl.edu 37 21 44274710 44274710 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 44274710 44274710 G A SNP WDR4 ENST00000330317 human ensembl 70_37 -1 known silent c.753 p.F251 0.723 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 16 16 50.00 46 0 0.00 WDR41 55255 genome.wustl.edu 37 5 76734176 76734176 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 76734176 76734176 G T SNP WDR41 ENST00000296679 human ensembl 70_37 -1 known missense c.893 p.A298D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC ENSG00000164253 13 8 38.10 35 0 0.00 WDR41 55255 genome.wustl.edu 37 5 76736643 76736643 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 76736643 76736643 C T SNP WDR41 ENST00000296679 human ensembl 70_37 -1 known missense c.877 p.E293K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC ENSG00000164253 30 14 31.82 43 0 0.00 WDR43 23160 genome.wustl.edu 37 2 29147999 29147999 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 29147999 29147999 C T SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known nonsense c.1066 p.Q356* 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 74 47 38.84 103 0 0.00 WDR43 23160 genome.wustl.edu 37 2 29152532 29152532 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 29152532 29152532 C T SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known missense c.1393 p.L465F 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 28 14 33.33 42 0 0.00 WDR43 23160 genome.wustl.edu 37 2 29165188 29165188 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 29165188 29165188 C A SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known nonsense c.1745 p.S582* 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 44 22 33.33 97 0 0.00 WDR44 54521 genome.wustl.edu 37 X 117480348 117480348 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 117480348 117480348 C G SNP WDR44 ENST00000493448 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR44 HGNC ENSG00000131725 16 22 57.89 49 0 0.00 WDR44 54521 genome.wustl.edu 37 X 117528026 117528026 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117528026 117528026 G C SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.835 p.E279Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 32 15 31.91 23 0 0.00 WDR44 54521 genome.wustl.edu 37 X 117528059 117528059 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 117528059 117528059 A G SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.868 p.S290G 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 42 17 28.81 63 0 0.00 WDR44 54521 genome.wustl.edu 37 X 117532408 117532408 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117532408 117532408 G A SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.1249 p.D417N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 183 47 20.43 219 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48932470 48932470 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 48932470 48932470 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.1108 p.D370N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 60 30 33.33 81 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48932479 48932479 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48932479 48932479 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.1099 p.D367N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 41 28 40.58 74 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48932841 48932841 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 48932841 48932841 G C SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.960 p.I320M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 12 6 33.33 50 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48934313 48934313 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48934313 48934313 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.332 p.R111H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 19 9 32.14 43 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48934502 48934502 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48934502 48934502 C T SNP WDR45 ENST00000470270 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR45 HGNC ENSG00000196998 18 17 48.57 46 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48935159 48935159 + RNA SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 48935159 48935159 G C SNP WDR45 ENST00000465431 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors WDR45 HGNC ENSG00000196998 34 15 30.61 108 0 0.00 WDR45 11152 genome.wustl.edu 37 X 48935736 48935736 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48935736 48935736 G A SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known nonsense c.19 p.R7* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 61 30 32.97 148 0 0.00 WDR45B 56270 genome.wustl.edu 37 17 80573806 80573806 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 80573806 80573806 C T SNP WDR45L ENST00000392325 human ensembl 70_37 -1 known missense c.1024 p.D342N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC ENSG00000141580 44 15 25.42 61 0 0.00 WDR45B 56270 genome.wustl.edu 37 17 80585163 80585163 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 80585163 80585163 C T SNP WDR45L ENST00000392325 human ensembl 70_37 -1 known missense c.249 p.M83I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC ENSG00000141580 9 12 57.14 21 0 0.00 WDR46 9277 genome.wustl.edu 37 6 33246901 33246901 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 33246901 33246901 C T SNP WDR46 ENST00000461951 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors WDR46 HGNC ENSG00000227057 19 12 38.71 38 0 0.00 WDR47 22911 genome.wustl.edu 37 1 109514103 109514103 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 109514103 109514103 G A SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known silent c.2733 p.F911 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 68 32 32.00 124 0 0.00 WDR47 22911 genome.wustl.edu 37 1 109517212 109517212 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 109517212 109517212 G A SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known missense c.2587 p.H863Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 21 4 16.00 28 0 0.00 WDR47 22911 genome.wustl.edu 37 1 109553686 109553686 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 109553686 109553686 C T SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known missense c.1003 p.D335N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 42 9 17.65 43 0 0.00 WDR48 57599 genome.wustl.edu 37 3 39116328 39116328 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 39116328 39116328 G A SNP WDR48 ENST00000302313 human ensembl 70_37 +1 known missense c.784 p.D262N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 40 9 18.37 94 0 0.00 WDR48 57599 genome.wustl.edu 37 3 39125682 39125682 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 39125682 39125682 G A SNP WDR48 ENST00000302313 human ensembl 70_37 +1 known missense c.1210 p.E404K 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 54 11 16.92 91 0 0.00 WDR48 57599 genome.wustl.edu 37 3 39133113 39133113 + RNA SNP C C T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 3 39133113 39133113 C T SNP WDR48 ENST00000466405 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WDR48 HGNC ENSG00000114742 29 12 29.27 47 0 0.00 WDR48 57599 genome.wustl.edu 37 3 39136444 39136444 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 39136444 39136444 G C SNP WDR48 ENST00000466405 human ensembl 70_37 +1 known rna NULL NULL 0.529 - - - no_errors WDR48 HGNC ENSG00000114742 7 6 46.15 13 0 0.00 WDR49 151790 genome.wustl.edu 37 3 167196719 167196719 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 167196719 167196719 C A SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.2041 p.A681S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 12 16 57.14 33 0 0.00 WDR49 151790 genome.wustl.edu 37 3 167196719 167196719 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 167196719 167196719 C A SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.2041 p.A681S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 45 43 48.31 43 0 0.00 WDR49 151790 genome.wustl.edu 37 3 167217980 167217980 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 167217980 167217980 C G SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.1936 p.E646Q 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 64 16 20.00 54 0 0.00 WDR49 151790 genome.wustl.edu 37 3 167293737 167293737 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 167293737 167293737 G A SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.455 p.T152I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 391 56 12.50 250 0 0.00 WDR52 55779 genome.wustl.edu 37 3 113023888 113023888 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 113023888 113023888 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.4870 p.H1624Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 66 8 10.81 55 0 0.00 WDR52 55779 genome.wustl.edu 37 3 113063421 113063421 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113063421 113063421 G C SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.3204 p.S1068R 0.945 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 110 31 21.83 48 0 0.00 WDR52 55779 genome.wustl.edu 37 3 113063537 113063537 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 113063537 113063537 C G SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.3088 p.D1030H 0.934 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 63 18 22.22 27 0 0.00 WDR52 55779 genome.wustl.edu 37 3 113099823 113099823 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 113099823 113099823 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.1975 p.H659Y 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 51 7 12.07 54 0 0.00 WDR52 55779 genome.wustl.edu 37 3 113120479 113120479 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 3 113120479 113120479 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known silent c.1278 p.F426 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 82 31 27.43 21 0 0.00 WDR53 348793 genome.wustl.edu 37 3 196287874 196287874 + Missense_Mutation SNP T T C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 3 196287874 196287874 T C SNP WDR53 ENST00000332629 human ensembl 70_37 -1 known missense c.473 p.D158G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 92 26 21.85 70 0 0.00 WDR54 84058 genome.wustl.edu 37 2 74652559 74652559 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 74652559 74652559 G T SNP WDR54 ENST00000348227 human ensembl 70_37 +1 known nonsense c.814 p.E272* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 34 27 44.26 36 0 0.00 WDR55 54853 genome.wustl.edu 37 5 140047914 140047914 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 140047914 140047914 G T SNP WDR55 ENST00000358337 human ensembl 70_37 +1 known missense c.287 p.G96V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 17 3 15.00 29 0 0.00 WDR59 79726 genome.wustl.edu 37 16 74919569 74919569 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 74919569 74919569 C T SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.2671 p.D891N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 21 14 40.00 69 0 0.00 WDR59 79726 genome.wustl.edu 37 16 74999681 74999681 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 74999681 74999681 C G SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.94 p.V32L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 106 18 14.40 179 0 0.00 WDR59 79726 genome.wustl.edu 37 16 74999681 74999681 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 74999681 74999681 C G SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.94 p.V32L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 50 7 12.28 31 0 0.00 WDR5B 54554 genome.wustl.edu 37 3 122134139 122134139 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122134139 122134139 G C SNP WDR5B ENST00000330689 human ensembl 70_37 -1 known silent c.237 p.L79 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5B HGNC ENSG00000196981 56 18 24.32 29 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49048913 49048913 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49048913 49048913 G A SNP WDR6 ENST00000452875 human ensembl 70_37 +1 known missense c.160 p.E54K 0.057 NULL NULL - no_errors WDR6 HGNC ENSG00000178252 20 6 23.08 31 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049120 49049120 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 49049120 49049120 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.243 p.R81 0.585 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 20 17 45.95 42 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049138 49049138 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49049138 49049138 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.261 p.Q87 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 350 117 24.95 522 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049208 49049208 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49049208 49049208 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.331 p.E111Q 0.759 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 32 30 48.39 50 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049889 49049889 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049889 49049889 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1012 p.E338K 0.899 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 33 16 32.65 61 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049891 49049891 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049891 49049891 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.1014 p.E338 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 34 15 30.61 61 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49049972 49049972 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049972 49049972 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.1095 p.L365 0.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 24 12 33.33 33 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49050363 49050363 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49050363 49050363 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1486 p.E496Q 1.000 superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 37 7 15.91 39 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49050409 49050409 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49050409 49050409 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1532 p.R511H 0.215 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 23 7 23.33 19 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49051433 49051433 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49051433 49051433 C T SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.2556 p.P852 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 37 22 37.29 40 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49051891 49051891 + Silent SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49051891 49051891 C G SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.2832 p.L944 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 89 35 28.23 124 0 0.00 WDR6 11180 genome.wustl.edu 37 3 49052061 49052061 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49052061 49052061 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.2902 p.D968N 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 8 3 27.27 10 0 0.00 WDR60 55112 genome.wustl.edu 37 7 158662589 158662589 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 158662589 158662589 A C SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known missense c.59 p.K20T 0.883 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 27 20 42.55 62 0 0.00 WDR60 55112 genome.wustl.edu 37 7 158664075 158664077 + In_Frame_Del DEL GAA GAA - TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 7 158664075 158664077 GAA - DEL WDR60 ENST00000407559 human ensembl 70_37 +1 known in_frame_del c.312_314 p.K105in_frame_del 0.000:0.001:0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 17 2 10.53 42 0 0.00 WDR60 55112 genome.wustl.edu 37 7 158715181 158715181 + Missense_Mutation SNP T T C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 7 158715181 158715181 T C SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known missense c.2035 p.C679R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 74 13 14.94 52 0 0.00 WDR60 55112 genome.wustl.edu 37 7 158723168 158723168 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 158723168 158723168 C G SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known silent c.2508 p.V836 0.991 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 29 9 23.68 39 0 0.00 WDR61 80349 genome.wustl.edu 37 15 78577611 78577611 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 78577611 78577611 G A SNP WDR61 ENST00000267973 human ensembl 70_37 -1 known nonsense c.820 p.Q274* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR61 HGNC ENSG00000140395 21 19 47.50 57 0 0.00 WDR62 284403 genome.wustl.edu 37 19 36590358 36590358 + Missense_Mutation SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 19 36590358 36590358 C G SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.2578 p.P860A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 11 21 65.62 43 0 0.00 WDR62 284403 genome.wustl.edu 37 19 36593869 36593869 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 36593869 36593869 C T SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.3355 p.P1119S 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 14 10 41.67 25 0 0.00 WDR62 284403 genome.wustl.edu 37 19 36594670 36594670 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36594670 36594670 G A SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.3940 p.D1314N 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 37 35 48.61 68 0 0.00 WDR62 284403 genome.wustl.edu 37 19 36595563 36595563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36595563 36595563 G C SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.4297 p.D1433H 0.962 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 62 14 18.42 99 0 0.00 WDR63 126820 genome.wustl.edu 37 1 85555822 85555822 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 85555822 85555822 C T SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.764 p.T255M 0.114 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 14 11 44.00 15 0 0.00 WDR63 126820 genome.wustl.edu 37 1 85559238 85559238 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 85559238 85559238 G A SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.955 p.D319N 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 21 44 67.69 68 0 0.00 WDR63 126820 genome.wustl.edu 37 1 85560159 85560159 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 85560159 85560159 G C SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.1094 p.R365T 0.603 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 30 14 31.82 40 0 0.00 WDR64 128025 genome.wustl.edu 37 1 241834403 241834403 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 241834403 241834403 G T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known missense c.304 p.D102Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 37 19 33.93 55 0 0.00 WDR64 128025 genome.wustl.edu 37 1 241846798 241846798 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 241846798 241846798 T G SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known missense c.604 p.F202V 0.960 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 29 5 14.71 35 0 0.00 WDR64 128025 genome.wustl.edu 37 1 241875110 241875110 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 241875110 241875110 C G SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known silent c.951 p.V317 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 42 7 14.29 32 0 0.00 WDR64 128025 genome.wustl.edu 37 1 241904939 241904939 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 241904939 241904939 C T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known silent c.1413 p.L471 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 28 9 24.32 45 0 0.00 WDR64 128025 genome.wustl.edu 37 1 241920750 241920750 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 241920750 241920750 C T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known nonsense c.1906 p.Q636* 0.138 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 47 12 20.34 52 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43638464 43638464 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 43638464 43638464 C G SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.40 p.L14V 0.982 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 35 11 23.91 46 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43647253 43647253 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 43647253 43647253 G T SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.206 p.R69L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 29 4 12.12 39 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43647299 43647299 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 43647299 43647299 C T SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known silent c.252 p.I84 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 51 6 10.53 41 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43650992 43650992 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 43650992 43650992 G A SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.934 p.E312K 0.989 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 96 31 24.41 127 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43651019 43651019 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 43651019 43651019 G C SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 67 25 27.17 92 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43663242 43663242 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 43663242 43663242 G A SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.1141 p.E381K 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 98 59 37.58 193 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43675438 43675438 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 43675438 43675438 G C SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.1780 p.D594H 0.998 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 58 38 39.58 39 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43719755 43719755 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43719755 43719755 G A SNP WDR65 ENST00000372492 human ensembl 70_37 +1 novel missense c.3646 p.D1216N 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 33 15 31.25 48 0 0.00 WDR65 149465 genome.wustl.edu 37 1 43719782 43719782 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 43719782 43719782 A G SNP WDR65 ENST00000372492 human ensembl 70_37 +1 novel missense c.3673 p.T1225A 0.483 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 26 9 25.71 67 0 0.00 WDR66 144406 genome.wustl.edu 37 12 122359395 122359397 + In_Frame_Del DEL GGG GGG - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 122359395 122359397 GGG - DEL WDR66 ENST00000288912 human ensembl 70_37 +1 known in_frame_del c.184_186 p.G62in_frame_del 0.000:0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 7 4 36.36 8 0 0.00 WDR66 144406 genome.wustl.edu 37 12 122361672 122361672 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 122361672 122361672 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.523 p.E175K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 20 6 23.08 20 0 0.00 WDR66 144406 genome.wustl.edu 37 12 122413586 122413586 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 122413586 122413586 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.3001 p.E1001K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 26 12 31.58 32 0 0.00 WDR66 144406 genome.wustl.edu 37 12 122437841 122437841 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 122437841 122437841 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.3226 p.V1076I 0.032 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 24 6 20.00 56 0 0.00 TBC1D31 93594 genome.wustl.edu 37 8 124140520 124140521 + Frame_Shift_Ins INS - - T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 8 124140520 124140521 - T INS WDR67 ENST00000287380 human ensembl 70_37 +1 known frame_shift_ins c.1886_1885 p.H632fs 1.000:1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 20 4 16.67 26 0 0.00 TBC1D31 93594 genome.wustl.edu 37 8 124140521 124140521 + Frame_Shift_Del DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 8 124140521 124140521 T - DEL WDR67 ENST00000287380 human ensembl 70_37 +1 known frame_shift_del c.1885 p.H632fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 16 6 27.27 19 0 0.00 TBC1D31 93594 genome.wustl.edu 37 8 124140567 124140567 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124140567 124140567 G A SNP WDR67 ENST00000287380 human ensembl 70_37 +1 known missense c.1931 p.R644K 0.712 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 148 46 23.71 182 0 0.00 TBC1D31 93594 genome.wustl.edu 37 8 124146362 124146362 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124146362 124146362 G C SNP WDR67 ENST00000287380 human ensembl 70_37 +1 known missense c.2415 p.M805I 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 104 20 16.13 120 0 0.00 DAW1 164781 genome.wustl.edu 37 2 228786123 228786123 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 228786123 228786123 C T SNP WDR69 ENST00000309931 human ensembl 70_37 +1 known silent c.1059 p.F353 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR69 HGNC ENSG00000123977 16 8 33.33 30 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54350029 54350029 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 54350029 54350029 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.465 p.K155N 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 40 20 33.33 65 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54354104 54354104 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 18 54354104 54354104 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.616 p.E206Q 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 37 12 24.49 71 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54605880 54605880 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 54605880 54605880 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3948 p.K1316N 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 15 4 21.05 31 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54605881 54605881 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 54605881 54605881 A G SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3949 p.M1317V 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 31 21 40.38 44 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54605881 54605881 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 54605881 54605881 A G SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3949 p.M1317V 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 73 45 37.82 110 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54606544 54606544 + Silent SNP T T A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 54606544 54606544 T A SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known silent c.3984 p.V1328 0.956 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 36 22 37.93 33 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54629743 54629743 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 18 54629743 54629743 C T SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.4147 p.R1383W 1.000 smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 58 9 13.43 61 0 0.00 WDR7 23335 genome.wustl.edu 37 18 54694411 54694411 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 54694411 54694411 C T SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known silent c.4446 p.D1482 0.987 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 25 6 19.35 38 0 0.00 WDR70 55100 genome.wustl.edu 37 5 37392223 37392223 + Splice_Site SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 37392223 37392223 G T SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known splice_site c.296+1 e4+1 0.997 - - - no_errors WDR70 HGNC ENSG00000082068 26 4 13.33 28 0 0.00 WDR70 55100 genome.wustl.edu 37 5 37701239 37701239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 37701239 37701239 C G SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known missense c.1272 p.F424L 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 40 30 42.86 56 0 0.00 WDR70 55100 genome.wustl.edu 37 5 37727020 37727020 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 37727020 37727020 C G SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known missense c.1750 p.L584V 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 74 79 51.63 88 0 0.00 WDR72 256764 genome.wustl.edu 37 15 53994468 53994468 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 53994468 53994468 C A SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known missense c.1432 p.D478Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 14 10 41.67 53 0 0.00 WDR72 256764 genome.wustl.edu 37 15 54003546 54003546 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 15 54003546 54003546 G C SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known missense c.844 p.Q282E 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 24 26 52.00 59 0 0.00 WDR72 256764 genome.wustl.edu 37 15 54003550 54003550 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 15 54003550 54003550 G A SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known silent c.840 p.I280 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 23 5 17.86 40 0 0.00 WDR73 84942 genome.wustl.edu 37 15 85186837 85186837 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 85186837 85186837 T C SNP WDR73 ENST00000434634 human ensembl 70_37 -1 known missense c.1001 p.D334G 0.042 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC ENSG00000177082 51 6 10.53 52 0 0.00 WDR73 84942 genome.wustl.edu 37 15 85191128 85191128 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 85191128 85191128 C G SNP WDR73 ENST00000434634 human ensembl 70_37 -1 known missense c.345 p.E115D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC ENSG00000177082 52 13 20.00 76 0 0.00 WDR74 54663 genome.wustl.edu 37 11 62601346 62601346 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 62601346 62601346 G C SNP WDR74 ENST00000278856 human ensembl 70_37 -1 known nonsense c.839 p.S280* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR74 HGNC ENSG00000133316 22 34 60.71 53 0 0.00 WDR75 84128 genome.wustl.edu 37 2 190324117 190324117 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 190324117 190324117 G C SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known missense c.745 p.D249H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 62 22 26.19 52 0 0.00 WDR75 84128 genome.wustl.edu 37 2 190328666 190328666 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 190328666 190328666 G C SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known missense c.1092 p.Q364H 0.798 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 87 29 24.79 125 0 0.00 WDR75 84128 genome.wustl.edu 37 2 190329969 190329969 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 190329969 190329969 G A SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known silent c.1278 p.K426 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 42 17 28.81 68 0 0.00 WDR76 79968 genome.wustl.edu 37 15 44120326 44120326 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44120326 44120326 C G SNP WDR76 ENST00000263795 human ensembl 70_37 +1 known missense c.224 p.S75C 0.980 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 5 21 80.77 34 0 0.00 WDR76 79968 genome.wustl.edu 37 15 44120351 44120351 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44120351 44120351 G T SNP WDR76 ENST00000263795 human ensembl 70_37 +1 known missense c.249 p.K83N 0.466 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 19 14 42.42 24 0 0.00 WDR78 79819 genome.wustl.edu 37 1 67340544 67340544 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 67340544 67340544 G C SNP WDR78 ENST00000371026 human ensembl 70_37 -1 known silent c.720 p.L240 0.965 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 42 23 35.38 71 0 0.00 WDR78 79819 genome.wustl.edu 37 1 67359062 67359062 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 67359062 67359062 C T SNP WDR78 ENST00000371026 human ensembl 70_37 -1 known missense c.380 p.R127Q 0.910 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 54 32 37.21 39 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629218 1629218 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 1629218 1629218 A G SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.965 p.D322G 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 22 16 42.11 36 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629270 1629270 + Silent SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 17 1629270 1629270 C A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.1017 p.P339 0.001 pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 27 4 12.90 27 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629280 1629280 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629280 1629280 G T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known nonsense c.1027 p.E343* 0.949 pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 30 9 23.08 21 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629456 1629456 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629456 1629456 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.1203 p.K401 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 32 6 15.79 26 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629541 1629541 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 1629541 1629541 G C SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.1288 p.G430R 0.597 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 8 8 50.00 20 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1629718 1629718 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629718 1629718 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.1465 p.D489N 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 23 8 25.81 48 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1634405 1634405 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 1634405 1634405 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4010 p.R1337H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 5 9 64.29 12 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1634415 1634415 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 1634415 1634415 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.4020 p.A1340 0.045 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 18 7 28.00 46 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1634540 1634540 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1634540 1634540 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4145 p.S1382F 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 37 5 11.90 42 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1637014 1637014 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 17 1637014 1637014 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.4683 p.S1561 0.944 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 28 16 36.36 48 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1637052 1637052 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 17 1637052 1637052 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4721 p.S1574F 0.487 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 53 19 26.39 68 0 0.00 WDR81 124997 genome.wustl.edu 37 17 1639342 1639342 + Nonsense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 1639342 1639342 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known nonsense c.5335 p.R1779* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 61 9 12.86 57 0 0.00 WDR82 80335 genome.wustl.edu 37 3 52312323 52312323 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 52312323 52312323 C T SNP WDR82 ENST00000296490 human ensembl 70_37 -1 known missense c.55 p.E19K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC ENSG00000164091 31 9 22.50 23 0 0.00 WDR83 84292 genome.wustl.edu 37 19 12781580 12781580 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 12781580 12781580 G A SNP WDR83 ENST00000242796 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 39 21 35.00 55 0 0.00 WDR83OS 51398 genome.wustl.edu 37 19 12780007 12780007 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 12780007 12780007 C T SNP WDR83OS ENST00000596731 human ensembl 70_37 -1 known missense c.91 p.D31N 1.000 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC ENSG00000105583 56 29 34.12 73 0 0.00 WDR83OS 51398 genome.wustl.edu 37 19 12780964 12780964 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12780964 12780964 G A SNP WDR83OS ENST00000600694 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR83OS HGNC ENSG00000105583 56 33 37.08 93 0 0.00 DPH7 92715 genome.wustl.edu 37 9 140451184 140451184 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 140451184 140451184 C T SNP WDR85 ENST00000497237 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR85 HGNC ENSG00000148399 11 7 38.89 11 0 0.00 DPH7 92715 genome.wustl.edu 37 9 140459760 140459761 + RNA INS - - CT TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140459760 140459761 - CT INS WDR85 ENST00000497237 human ensembl 70_37 -1 known rna NULL NULL 0.802:0.760 - - - no_errors WDR85 HGNC ENSG00000148399 10 6 37.50 10 0 0.00 WDR86 349136 genome.wustl.edu 37 7 151074056 151074056 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 151074056 151074056 G C SNP WDR86 ENST00000463000 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR86 HGNC ENSG00000187260 23 6 20.69 26 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38377309 38377309 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38377309 38377309 C A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.7002 p.K2334N 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 3 6 66.67 11 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38377815 38377815 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 38377815 38377815 C T SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.6496 p.E2166K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 23 9 28.12 16 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38380396 38380396 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38380396 38380396 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.3915 p.N1305 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 12 4 25.00 28 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38380730 38380730 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 38380730 38380730 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3581 p.S1194F 0.001 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 78 16 17.02 97 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38380843 38380843 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38380843 38380843 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.3468 p.L1156 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 98 26 20.97 109 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38382241 38382241 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38382241 38382241 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3345 p.I1115M 0.018 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 64 44 40.74 96 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38382299 38382299 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38382299 38382299 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3287 p.S1096C 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 35 26 42.62 66 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38383943 38383943 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38383943 38383943 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.2400 p.L800 0.941 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 41 12 22.64 51 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38385384 38385384 + Missense_Mutation SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 19 38385384 38385384 C T SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.959 p.R320Q 0.004 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 17 14 45.16 48 0 0.00 WDR87 83889 genome.wustl.edu 37 19 38386878 38386878 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 38386878 38386878 G T SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.146 p.S49Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 35 4 10.26 30 0 0.00 WDR90 197335 genome.wustl.edu 37 16 705684 705684 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 705684 705684 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.1830 p.Q610 0.920 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 22 9 29.03 47 0 0.00 WDR90 197335 genome.wustl.edu 37 16 705701 705701 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 705701 705701 C T SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.1847 p.S616L 0.098 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 21 16 43.24 33 0 0.00 WDR90 197335 genome.wustl.edu 37 16 707790 707790 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 707790 707790 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.2502 p.A834 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 14 3 17.65 14 0 0.00 WDR90 197335 genome.wustl.edu 37 16 709007 709007 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 709007 709007 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.3007 p.E1003K 0.108 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 74 28 27.45 78 0 0.00 WDR90 197335 genome.wustl.edu 37 16 711352 711352 + Missense_Mutation SNP C C G TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 16 711352 711352 C G SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.3524 p.S1175C 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 39 13 25.00 37 0 0.00 WDR90 197335 genome.wustl.edu 37 16 712707 712707 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 712707 712707 C T SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.4180 p.L1394 0.994 superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 68 32 32.00 133 0 0.00 WDR90 197335 genome.wustl.edu 37 16 717452 717452 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 717452 717452 G A SNP WDR90 ENST00000315764 human ensembl 70_37 +1 known missense c.763 p.D255N 0.969 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 60 46 42.99 89 0 0.00 WDR91 29062 genome.wustl.edu 37 7 134880995 134880995 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 134880995 134880995 G A SNP WDR91 ENST00000354475 human ensembl 70_37 -1 known missense c.1145 p.S382L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 37 8 17.78 40 0 0.00 WDR92 116143 genome.wustl.edu 37 2 68358570 68358570 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 2 68358570 68358570 G T SNP WDR92 ENST00000295121 human ensembl 70_37 -1 known missense c.874 p.P292T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR92 HGNC ENSG00000243667 25 3 10.71 48 0 0.00 WDR93 56964 genome.wustl.edu 37 15 90276274 90276274 + Silent SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 90276274 90276274 T C SNP WDR93 ENST00000268130 human ensembl 70_37 +1 known silent c.1368 p.C456 0.010 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 53 39 42.39 63 0 0.00 WDR93 56964 genome.wustl.edu 37 15 90276398 90276398 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90276398 90276398 C G SNP WDR93 ENST00000268130 human ensembl 70_37 +1 known missense c.1492 p.L498V 0.965 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 24 13 35.14 52 0 0.00 WDR96 80217 genome.wustl.edu 37 10 105893321 105893321 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 105893321 105893321 G A SNP WDR96 ENST00000479392 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR96 HGNC ENSG00000197748 6 6 50.00 10 0 0.00 WDR96 80217 genome.wustl.edu 37 10 105906095 105906095 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 10 105906095 105906095 C T SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.3781 p.E1261K 0.090 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 27 6 18.18 41 0 0.00 WDR96 80217 genome.wustl.edu 37 10 105920872 105920872 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 105920872 105920872 C T SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.3463 p.E1155K 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 30 10 25.00 42 0 0.00 WDR96 80217 genome.wustl.edu 37 10 105956648 105956648 + Missense_Mutation SNP T T C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 10 105956648 105956648 T C SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.1256 p.D419G 0.873 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 57 34 37.36 119 1 0.83 WDR96 80217 genome.wustl.edu 37 10 105990417 105990417 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 105990417 105990417 C G SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.250 p.D84H 1.000 superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 27 23 46.00 87 0 0.00 WDSUB1 151525 genome.wustl.edu 37 2 160139519 160139519 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 160139519 160139519 G C SNP WDSUB1 ENST00000359774 human ensembl 70_37 -1 known missense c.62 p.S21C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 32 29 47.54 54 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27608762 27608762 + Nonsense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 27608762 27608762 G A SNP WDTC1 ENST00000319394 human ensembl 70_37 +1 known nonsense c.165 p.W55* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 42 19 30.65 62 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 70_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 43 13 23.21 48 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27622829 27622829 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 27622829 27622829 G C SNP WDTC1 ENST00000319394 human ensembl 70_37 +1 known missense c.886 p.D296H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 57 33 36.67 76 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27627932 27627932 + Missense_Mutation SNP T T A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 1 27627932 27627932 T A SNP WDTC1 ENST00000319394 human ensembl 70_37 +1 known missense c.1448 p.L483H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 24 4 14.29 58 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27633121 27633122 + RNA INS - - C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 27633121 27633122 - C INS WDTC1 ENST00000491239 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors WDTC1 HGNC ENSG00000142784 39 25 39.06 34 0 0.00 WDTC1 23038 genome.wustl.edu 37 1 27633122 27633122 + RNA DEL C C - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 27633122 27633122 C - DEL WDTC1 ENST00000491239 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors WDTC1 HGNC ENSG00000142784 12 13 52.00 45 0 0.00 WEE2 494551 genome.wustl.edu 37 7 141429462 141429462 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 141429462 141429462 C T SNP WEE2 ENST00000397541 human ensembl 70_37 +1 known missense c.1667 p.S556L 0.975 pirsf_Wee1-like_protein_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 27 14 34.15 35 0 0.00 WFDC1 58189 genome.wustl.edu 37 16 84353120 84353120 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 84353120 84353120 G A SNP WFDC1 ENST00000219454 human ensembl 70_37 +1 known missense c.505 p.D169N 0.827 NULL pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core - no_errors WFDC1 HGNC ENSG00000103175 44 31 41.33 85 0 0.00 WFDC10A 140832 genome.wustl.edu 37 20 44258464 44258464 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 44258464 44258464 G A SNP WFDC10A ENST00000372643 human ensembl 70_37 +1 known silent c.12 p.Q4 0.042 NULL pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core - no_errors WFDC10A HGNC ENSG00000180305 39 36 47.37 72 0 0.00 WFDC2 10406 genome.wustl.edu 37 20 44099101 44099101 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44099101 44099101 C T SNP WFDC2 ENST00000372676 human ensembl 70_37 +1 known missense c.152 p.S51L 0.004 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors WFDC2 HGNC ENSG00000101443 6 4 40.00 12 0 0.00 WFIKKN1 117166 genome.wustl.edu 37 16 682597 682597 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 682597 682597 G T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known nonsense c.187 p.E63* 1.000 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 83 17 17.00 84 0 0.00 WFIKKN1 117166 genome.wustl.edu 37 16 683018 683018 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 683018 683018 C T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known missense c.608 p.A203V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 15 11 42.31 23 0 0.00 WFIKKN1 117166 genome.wustl.edu 37 16 683146 683146 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 683146 683146 G A SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known missense c.736 p.G246R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 27 8 22.86 38 0 0.00 WFIKKN1 117166 genome.wustl.edu 37 16 683820 683820 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 683820 683820 C T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known silent c.1410 p.L470 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 28 8 22.22 96 0 0.00 WFIKKN2 124857 genome.wustl.edu 37 17 48916923 48916923 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 48916923 48916923 C T SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.274 p.R92C 1.000 superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 37 23 38.33 35 0 0.00 WFIKKN2 124857 genome.wustl.edu 37 17 48917322 48917322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 48917322 48917322 G C SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.673 p.E225Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 71 16 18.39 102 0 0.00 WFIKKN2 124857 genome.wustl.edu 37 17 48917537 48917537 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 48917537 48917537 G A SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known silent c.888 p.L296 0.156 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 103 57 35.40 109 0 0.00 WFIKKN2 124857 genome.wustl.edu 37 17 48917592 48917592 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 48917592 48917592 G C SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.943 p.E315Q 0.741 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 144 42 22.58 123 1 0.80 WFS1 7466 genome.wustl.edu 37 4 6279366 6279366 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 4 6279366 6279366 G A SNP WFS1 ENST00000226760 human ensembl 70_37 +1 known missense c.184 p.E62K 0.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 54 21 28.00 88 0 0.00 WFS1 7466 genome.wustl.edu 37 4 6302702 6302702 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 6302702 6302702 G A SNP WFS1 ENST00000226760 human ensembl 70_37 +1 known missense c.1180 p.E394K 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 56 35 38.46 72 0 0.00 WHAMM 123720 genome.wustl.edu 37 15 83485560 83485560 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 83485560 83485560 G T SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known silent c.900 p.V300 1.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 49 32 39.51 111 0 0.00 WHAMM 123720 genome.wustl.edu 37 15 83499688 83499688 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 15 83499688 83499688 G A SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known missense c.1979 p.R660H 0.038 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 16 6 27.27 23 0 0.00 WHAMM 123720 genome.wustl.edu 37 15 83499708 83499708 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 83499708 83499708 C G SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known missense c.1999 p.Q667E 0.003 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 11 6 35.29 18 0 0.00 WHAMMP2 440253 genome.wustl.edu 37 15 28990895 28990895 + RNA SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 15 28990895 28990895 C T SNP WHAMMP2 ENST00000508764 human ensembl 70_37 +1 putative rna NULL NULL 0.419 - - - no_errors WHAMMP2 HGNC ENSG00000248334 90 24 21.05 118 0 0.00 WHAMMP2 440253 genome.wustl.edu 37 15 28991241 28991241 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 28991241 28991241 C T SNP WHAMMP2 ENST00000508764 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 93 28 23.14 121 0 0.00 WHAMMP3 339005 genome.wustl.edu 37 15 23201566 23201566 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23201566 23201566 C A SNP WHAMMP3 ENST00000400153 human ensembl 70_37 -1 known rna NULL NULL 0.678 - - - no_errors WHAMMP3 HGNC ENSG00000187667 54 13 19.40 49 0 0.00 WHAMMP3 339005 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 23 4 14.81 32 0 0.00 WHAMMP3 339005 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 24 3 11.11 21 0 0.00 WHSC1 7468 genome.wustl.edu 37 4 1902844 1902844 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 1902844 1902844 G C SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.463 p.E155Q 0.974 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 32 13 28.89 40 0 0.00 WHSC1 7468 genome.wustl.edu 37 4 1918753 1918753 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 1918753 1918753 G A SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 22 7 24.14 51 0 0.00 WHSC1 7468 genome.wustl.edu 37 4 1919928 1919928 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 1919928 1919928 G T SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known nonsense c.988 p.E330* 0.233 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 16 5 23.81 15 0 0.00 WHSC1 7468 genome.wustl.edu 37 4 1944085 1944085 + Missense_Mutation SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 4 1944085 1944085 C G SNP WHSC1 ENST00000312087 human ensembl 70_37 +1 known missense c.1901 p.P634R 1.000 NULL pfam_PWWP,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,pfscan_PWWP,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 80 37 31.62 196 1 0.51 WHSC1 7468 genome.wustl.edu 37 4 1961446 1961446 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 1961446 1961446 C G SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known silent c.3234 p.V1078 0.122 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 36 10 21.74 53 0 0.00 WHSC1 7468 genome.wustl.edu 37 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 1980533 1980533 C T SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.3995 p.S1332L 0.011 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 43 14 24.56 37 0 0.00 WHSC1L1 54904 genome.wustl.edu 37 8 38172265 38172265 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 38172265 38172265 C T SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known silent c.2142 p.L714 0.931 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 17 9 33.33 18 0 0.00 WHSC1L1 54904 genome.wustl.edu 37 8 38173490 38173490 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 38173490 38173490 C G SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.1926 p.M642I 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 27 8 22.86 34 0 0.00 WHSC1L1 54904 genome.wustl.edu 37 8 38174709 38174709 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 38174709 38174709 C T SNP WHSC1L1 ENST00000525081 human ensembl 70_37 -1 known rna NULL NULL 0.943 - - - no_errors WHSC1L1 HGNC ENSG00000147548 31 31 50.00 30 0 0.00 WHSC1L1 54904 genome.wustl.edu 37 8 38205256 38205256 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 38205256 38205256 G A SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.434 p.P145L 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 118 33 21.85 178 0 0.00 WHSC1L1 54904 genome.wustl.edu 37 8 38205669 38205669 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 38205669 38205669 G C SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.21 p.F7L 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 92 24 20.69 77 0 0.00 NELFA 7469 genome.wustl.edu 37 4 1987870 1987870 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 1987870 1987870 C T SNP WHSC2 ENST00000382882 human ensembl 70_37 -1 known missense c.839 p.R280Q 1.000 NULL NULL - no_errors WHSC2 HGNC ENSG00000185049 61 42 40.78 76 0 0.00 WIBG 84305 genome.wustl.edu 37 12 56295840 56295840 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 56295840 56295840 G C SNP WIBG ENST00000408946 human ensembl 70_37 -1 known nonsense c.431 p.S144* 0.002 NULL pfam_EJC_Pym,superfamily_EJC_Pym - no_errors WIBG HGNC ENSG00000170473 42 5 10.64 58 0 0.00 WIF1 11197 genome.wustl.edu 37 12 65456282 65456282 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 65456282 65456282 C G SNP WIF1 ENST00000286574 human ensembl 70_37 -1 known missense c.805 p.E269Q 1.000 smart_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 35 11 23.91 35 0 0.00 WIPF1 7456 genome.wustl.edu 37 2 175431874 175431874 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 175431874 175431874 G A SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known silent c.1380 p.S460 0.997 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 36 15 29.41 93 0 0.00 WIPF1 7456 genome.wustl.edu 37 2 175436510 175436510 + Silent SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 175436510 175436510 G C SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known silent c.1023 p.L341 0.003 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 37 33 47.14 58 0 0.00 WIPF1 7456 genome.wustl.edu 37 2 175436608 175436608 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 175436608 175436608 G C SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known missense c.925 p.P309A 0.714 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 72 16 18.18 52 0 0.00 WIPF2 147179 genome.wustl.edu 37 17 38421118 38421118 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 38421118 38421118 C G SNP WIPF2 ENST00000323571 human ensembl 70_37 +1 known silent c.690 p.V230 0.065 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 49 7 12.50 63 0 0.00 WIPF3 644150 genome.wustl.edu 37 7 29923612 29923612 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 7 29923612 29923612 C T SNP WIPF3 ENST00000242140 human ensembl 70_37 +1 known missense c.502 p.R168C 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 7 3 30.00 11 0 0.00 WIPI2 26100 genome.wustl.edu 37 7 5254158 5254158 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 5254158 5254158 G C SNP WIPI2 ENST00000484262 human ensembl 70_37 +1 known silent c.27 p.V9 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 104 46 30.46 81 0 0.00 WIPI2 26100 genome.wustl.edu 37 7 5256388 5256388 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5256388 5256388 G A SNP WIPI2 ENST00000488359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WIPI2 HGNC ENSG00000157954 11 4 26.67 15 0 0.00 WIPI2 26100 genome.wustl.edu 37 7 5267828 5267828 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5267828 5267828 G A SNP WIPI2 ENST00000288828 human ensembl 70_37 +1 known silent c.1107 p.L369 0.884 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 12 10 45.45 20 0 0.00 WISP3 8838 genome.wustl.edu 37 6 112389478 112389478 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 112389478 112389478 C A SNP WISP3 ENST00000361714 human ensembl 70_37 +1 known silent c.714 p.S238 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 69 16 18.39 79 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15537963 15537963 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 15537963 15537963 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.3482 p.R1161Q 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 67 11 14.10 61 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15538983 15538983 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 15538983 15538983 G A SNP WIZ ENST00000545156 human ensembl 70_37 -1 known missense c.980 p.S327L 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 23 8 25.81 25 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15539200 15539200 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 15539200 15539200 G C SNP WIZ ENST00000545156 human ensembl 70_37 -1 known missense c.763 p.P255A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 11 5 31.25 17 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15540510 15540510 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 15540510 15540510 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2987 p.S996F 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 52 13 20.00 63 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15540852 15540852 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 15540852 15540852 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2645 p.R882Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 23 8 25.81 33 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15547672 15547672 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547672 15547672 G C SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2541 p.L847 0.824 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 46 27 36.49 99 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15547730 15547730 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 15547730 15547730 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2483 p.R828Q 0.190 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 53 30 35.71 77 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15547763 15547763 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 15547763 15547763 G C SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2450 p.S817C 0.946 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 39 8 17.02 82 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15547786 15547786 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547786 15547786 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2427 p.I809 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 50 31 38.27 118 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15547792 15547792 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547792 15547792 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2421 p.I807 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 49 31 38.75 114 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15549635 15549635 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 15549635 15549635 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2026 p.A676T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 85 10 10.53 132 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15549853 15549853 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 15549853 15549853 G T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1808 p.P603Q 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 17 9 34.62 19 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15550220 15550220 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 15550220 15550220 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1441 p.E481K 0.864 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 23 17 42.50 32 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15550387 15550387 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 15550387 15550387 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1274 p.A425V 0.865 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 14 6 30.00 22 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15550606 15550606 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 15550606 15550606 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1055 p.R352Q 0.088 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 29 9 23.68 34 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15550742 15550742 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 15550742 15550742 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.919 p.G307R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 34 19 35.85 62 0 0.00 WIZ 58525 genome.wustl.edu 37 19 15551054 15551054 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15551054 15551054 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.607 p.E203K 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 28 16 36.36 55 0 0.00 WLS 79971 genome.wustl.edu 37 1 68591956 68591956 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 68591956 68591956 C T SNP WLS ENST00000262348 human ensembl 70_37 -1 known missense c.1579 p.G527R 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 13 11 45.83 23 0 0.00 WLS 79971 genome.wustl.edu 37 1 68614246 68614246 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 1 68614246 68614246 C T SNP WLS ENST00000540432 human ensembl 70_37 -1 known missense c.1070 p.R357K 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 25 13 34.21 31 0 0.00 WNK1 65125 genome.wustl.edu 37 12 1005527 1005527 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 1005527 1005527 C G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.7368 p.F2456L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 16 15 48.39 23 0 0.00 WNK1 65125 genome.wustl.edu 37 12 1017163 1017163 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 1017163 1017163 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.8288 p.S2763L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 55 8 12.70 66 0 0.00 WNK1 65125 genome.wustl.edu 37 12 970314 970314 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 970314 970314 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 20 8 27.59 31 0 0.00 WNK1 65125 genome.wustl.edu 37 12 970493 970493 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 970493 970493 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known silent c.1935 p.P645 0.896 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 20 3 13.04 38 0 0.00 WNK1 65125 genome.wustl.edu 37 12 977104 977104 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 977104 977104 C G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.2467 p.H823D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 41 12 22.64 45 0 0.00 WNK1 65125 genome.wustl.edu 37 12 977110 977110 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 977110 977110 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.2473 p.R825C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 28 20 41.67 35 0 0.00 WNK1 65125 genome.wustl.edu 37 12 977921 977921 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 977921 977921 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.3284 p.G1095E 0.840 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 79 17 17.71 85 0 0.00 WNK1 65125 genome.wustl.edu 37 12 978057 978057 + Silent SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 12 978057 978057 A G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known silent c.3420 p.Q1140 0.841 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 140 70 33.33 232 0 0.00 WNK1 65125 genome.wustl.edu 37 12 992678 992678 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 992678 992678 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.5101 p.D1701N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 30 27 47.37 44 0 0.00 WNK1 65125 genome.wustl.edu 37 12 993814 993814 + Splice_Site SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 993814 993814 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known splice_site c.5339-1 e21-1 1.000 - - - no_errors WNK1 HGNC ENSG00000060237 46 18 28.12 42 0 0.00 WNK1 65125 genome.wustl.edu 37 12 994616 994616 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 994616 994616 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.6140 p.S2047F 0.894 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 34 9 20.93 29 0 0.00 WNK2 65268 genome.wustl.edu 37 9 95947670 95947670 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 95947670 95947670 G T SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.459 p.K153N 0.624 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 31 14 31.11 30 0 0.00 WNK2 65268 genome.wustl.edu 37 9 96000536 96000536 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 96000536 96000536 G C SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1255 p.E419Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 71 21 22.83 83 0 0.00 WNK2 65268 genome.wustl.edu 37 9 96009920 96009920 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 96009920 96009920 C G SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1638 p.I546M 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 19 19 50.00 49 0 0.00 WNK2 65268 genome.wustl.edu 37 9 96015293 96015293 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 96015293 96015293 C T SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1963 p.P655S 0.988 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 9 7 43.75 21 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54228426 54228426 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 54228426 54228426 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.5071 p.E1691K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 23 44 65.67 45 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54263681 54263681 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 X 54263681 54263681 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.4318 p.E1440K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 30 7 18.92 50 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54264792 54264792 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 54264792 54264792 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known nonsense c.3997 p.Q1333* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 51 27 34.62 51 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54278033 54278033 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 54278033 54278033 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.2455 p.H819Y 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 80 33 28.95 76 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54324625 54324625 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 54324625 54324625 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 41 26 38.81 35 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54324625 54324625 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 54324625 54324625 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 49 17 25.76 101 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54324668 54324668 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 54324668 54324668 T G SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1338 p.E446D 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 21 17 44.74 60 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54337697 54337697 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 54337697 54337697 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known nonsense c.565 p.Q189* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 71 30 29.13 72 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54359713 54359714 + In_Frame_Ins INS - - TTT TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54359713 54359714 - TTT INS WNK3 ENST00000354646 human ensembl 70_37 -1 known in_frame_ins c.394_393 p.131in_frame_insK 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 66 9 12.00 64 0 0.00 WNK3 65267 genome.wustl.edu 37 X 54359716 54359717 + In_Frame_Ins INS - - CAT TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54359716 54359717 - CAT INS WNK3 ENST00000354646 human ensembl 70_37 -1 known in_frame_ins c.391_390 p.130in_frame_insM 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 66 9 12.00 65 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40939478 40939478 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40939478 40939478 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known silent c.1659 p.V553 0.906 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 26 11 29.73 38 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40946853 40946853 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40946853 40946853 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2414 p.S805C 0.799 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 16 10 38.46 43 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40947102 40947102 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40947102 40947102 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2663 p.S888F 0.920 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 150 32 17.58 141 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40947491 40947491 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 40947491 40947491 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2974 p.P992A 0.002 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 154 35 18.42 203 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40948022 40948022 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40948022 40948022 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.3402 p.F1134L 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 37 6 13.64 73 0 0.00 WNK4 65266 genome.wustl.edu 37 17 40948044 40948044 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40948044 40948044 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.3424 p.R1142W 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 42 6 12.50 71 0 0.00 WNT1 7471 genome.wustl.edu 37 12 49373340 49373340 + Missense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 12 49373340 49373340 G C SNP WNT1 ENST00000293549 human ensembl 70_37 +1 known missense c.194 p.S65T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 31 4 11.43 28 0 0.00 WNT10A 80326 genome.wustl.edu 37 2 219754750 219754750 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 219754750 219754750 G A SNP WNT10A ENST00000258411 human ensembl 70_37 +1 known missense c.421 p.V141M 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 21 16 43.24 32 0 0.00 WNT10A 80326 genome.wustl.edu 37 2 219754750 219754750 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 219754750 219754750 G A SNP WNT10A ENST00000258411 human ensembl 70_37 +1 known missense c.421 p.V141M 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 42 22 34.38 154 0 0.00 WNT10A 80326 genome.wustl.edu 37 2 219764059 219764060 + RNA INS - - T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 2 219764059 219764060 - T INS WNT10A ENST00000489887 human ensembl 70_37 +1 putative rna NULL NULL 0.001:0.048 - - - no_errors WNT10A HGNC ENSG00000135925 18 2 10.00 26 0 0.00 WNT11 7481 genome.wustl.edu 37 11 75905741 75905741 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 75905741 75905741 C T SNP WNT11 ENST00000322563 human ensembl 70_37 -1 known missense c.467 p.G156E 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 87 74 45.96 106 0 0.00 WNT16 51384 genome.wustl.edu 37 7 120979235 120979235 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 120979235 120979235 C A SNP WNT16 ENST00000222462 human ensembl 70_37 +1 known missense c.934 p.R312S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 17 4 19.05 23 0 0.00 WNT2 7472 genome.wustl.edu 37 7 116962987 116962987 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 116962987 116962987 G A SNP WNT2 ENST00000265441 human ensembl 70_37 -1 known silent c.57 p.L19 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 33 8 19.51 34 0 0.00 WNT2B 7482 genome.wustl.edu 37 1 113057560 113057560 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 1 113057560 113057560 C T SNP WNT2B ENST00000369684 human ensembl 70_37 +1 known missense c.247 p.R83W 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 32 23 41.82 71 0 0.00 WNT3A 89780 genome.wustl.edu 37 1 228194835 228194835 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228194835 228194835 C T SNP WNT3A ENST00000366753 human ensembl 70_37 +1 known silent c.6 p.A2 0.545 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 32 48 60.00 45 0 0.00 WNT4 54361 genome.wustl.edu 37 1 22448032 22448032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 22448032 22448032 C T SNP WNT4 ENST00000290167 human ensembl 70_37 -1 known silent c.351 p.S117 0.948 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4 - no_errors WNT4 HGNC ENSG00000162552 17 9 34.62 38 0 0.00 WNT5A 7474 genome.wustl.edu 37 3 55504018 55504018 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 55504018 55504018 G A SNP WNT5A ENST00000493406 human ensembl 70_37 -1 known rna NULL NULL 0.538 - - - no_errors WNT5A HGNC ENSG00000114251 26 11 29.73 46 0 0.00 WNT5A 7474 genome.wustl.edu 37 3 55504101 55504101 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 55504101 55504101 G C SNP WNT5A ENST00000493406 human ensembl 70_37 -1 known rna NULL NULL 0.139 - - - no_errors WNT5A HGNC ENSG00000114251 30 22 42.31 40 0 0.00 WNT5B 81029 genome.wustl.edu 37 12 1740590 1740590 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 1740590 1740590 A G SNP WNT5B ENST00000310594 human ensembl 70_37 +1 known missense c.70 p.N24D 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 32 5 13.51 51 0 0.00 WNT5B 81029 genome.wustl.edu 37 12 1741900 1741900 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 1741900 1741900 G A SNP WNT5B ENST00000310594 human ensembl 70_37 +1 known missense c.157 p.G53R 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 11 13 54.17 37 0 0.00 WNT7B 7477 genome.wustl.edu 37 22 46319122 46319122 + Nonsense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 22 46319122 46319122 G A SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known nonsense c.664 p.R222* 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 36 9 20.00 37 0 0.00 WNT7B 7477 genome.wustl.edu 37 22 46319212 46319212 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 46319212 46319212 G C SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.574 p.L192V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 34 51 60.00 85 0 0.00 WNT7B 7477 genome.wustl.edu 37 22 46327115 46327115 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 46327115 46327115 C T SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.433 p.E145K 1.000 pfam_Wnt,smart_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 39 29 42.65 72 0 0.00 WNT7B 7477 genome.wustl.edu 37 22 46372605 46372605 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 46372605 46372605 G T SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.30 p.F10L 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 33 4 10.26 31 0 0.00 WNT8A 7478 genome.wustl.edu 37 5 137420241 137420241 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 137420241 137420241 G A SNP WNT8A ENST00000361560 human ensembl 70_37 +1 known missense c.157 p.E53K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 44 30 40.54 68 0 0.00 WNT8B 7479 genome.wustl.edu 37 10 102222993 102222993 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 102222993 102222993 G T SNP WNT8B ENST00000343737 human ensembl 70_37 +1 known missense c.68 p.W23L 1.000 smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 26 3 10.34 34 0 0.00 WNT8B 7479 genome.wustl.edu 37 10 102241723 102241723 + Missense_Mutation SNP C C T TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 10 102241723 102241723 C T SNP WNT8B ENST00000343737 human ensembl 70_37 +1 known missense c.422 p.A141V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 33 4 10.81 35 0 0.00 WNT8B 7479 genome.wustl.edu 37 10 102242219 102242219 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 102242219 102242219 C G SNP WNT8B ENST00000343737 human ensembl 70_37 +1 known missense c.702 p.I234M 0.997 pfam_Wnt,smart_Wnt,prints_Wnt8 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 14 5 26.32 23 0 0.00 WNT9B 7484 genome.wustl.edu 37 17 44950037 44950037 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 17 44950037 44950037 C T SNP WNT9B ENST00000290015 human ensembl 70_37 +1 known silent c.232 p.L78 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 21 15 41.67 32 0 0.00 WRAP53 55135 genome.wustl.edu 37 17 7604112 7604112 + Nonsense_Mutation SNP T T A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 17 7604112 7604112 T A SNP WRAP53 ENST00000316024 human ensembl 70_37 +1 known nonsense c.696 p.Y232* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 59 12 16.90 64 0 0.00 WRN 7486 genome.wustl.edu 37 8 30969312 30969312 + Missense_Mutation SNP C C G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 8 30969312 30969312 C G SNP WRN ENST00000298139 human ensembl 70_37 +1 known missense c.2270 p.T757R 0.884 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 13 5 27.78 41 0 0.00 WRN 7486 genome.wustl.edu 37 8 31012235 31012235 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 31012235 31012235 C T SNP WRN ENST00000298139 human ensembl 70_37 +1 known silent c.3783 p.I1261 0.994 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 52 10 16.13 58 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2766657 2766657 + Missense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 2766657 2766657 G T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known missense c.801 p.W267C 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 13 4 23.53 10 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2770393 2770393 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 6 2770393 2770393 C G SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known missense c.1054 p.L352V 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 64 17 20.99 97 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2770431 2770431 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 2770431 2770431 C G SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1092 p.V364 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 46 28 37.84 75 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2779557 2779557 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 2779557 2779557 C T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1317 p.D439 0.997 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 38 8 17.39 68 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2779572 2779572 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 6 2779572 2779572 G A SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1332 p.L444 0.994 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 42 29 40.85 116 0 0.00 WRNIP1 56897 genome.wustl.edu 37 6 2785498 2785498 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 2785498 2785498 C T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1980 p.F660 0.780 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 4 39 90.70 53 0 0.00 WSB1 26118 genome.wustl.edu 37 17 25631899 25631899 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 25631899 25631899 G C SNP WSB1 ENST00000262394 human ensembl 70_37 +1 known missense c.572 p.R191T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 45 29 39.19 91 0 0.00 WSCD1 23302 genome.wustl.edu 37 17 5991361 5991361 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 5991361 5991361 G C SNP WSCD1 ENST00000317744 human ensembl 70_37 +1 known missense c.479 p.G160A 0.995 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 51 14 21.54 46 0 0.00 WSCD1 23302 genome.wustl.edu 37 17 6014195 6014195 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 17 6014195 6014195 G A SNP WSCD1 ENST00000317744 human ensembl 70_37 +1 known missense c.1114 p.E372K 1.000 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 36 4 10.00 56 0 0.00 WSCD2 9671 genome.wustl.edu 37 12 108600142 108600142 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 12 108600142 108600142 G C SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.459 p.K153N 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 51 39 43.33 56 0 0.00 WSCD2 9671 genome.wustl.edu 37 12 108603970 108603970 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 108603970 108603970 G C SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known silent c.570 p.V190 0.998 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 14 12 46.15 51 0 0.00 WSCD2 9671 genome.wustl.edu 37 12 108634216 108634216 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 108634216 108634216 G A SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.1240 p.A414T 0.994 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 44 8 15.38 44 0 0.00 WSCD2 9671 genome.wustl.edu 37 12 108638304 108638304 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 108638304 108638304 G A SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.1351 p.V451I 0.000 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 28 8 22.22 51 0 0.00 WT1 7490 genome.wustl.edu 37 11 32439182 32439182 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 32439182 32439182 C A SNP WT1 ENST00000332351 human ensembl 70_37 -1 known missense c.891 p.M297I 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 21 3 12.50 27 0 0.00 WT1 7490 genome.wustl.edu 37 11 32456360 32456360 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 32456360 32456360 C T SNP WT1 ENST00000332351 human ensembl 70_37 -1 known missense c.532 p.G178R 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 76 9 10.59 58 0 0.00 WT1-AS 51352 genome.wustl.edu 37 11 32461152 32461152 + RNA SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 11 32461152 32461152 G C SNP WT1-AS ENST00000395900 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors WT1-AS HGNC ENSG00000183242 17 7 29.17 29 0 0.00 WT1-AS 51352 genome.wustl.edu 37 11 32462761 32462761 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 32462761 32462761 G C SNP WT1-AS ENST00000395900 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors WT1-AS HGNC ENSG00000183242 49 19 27.94 93 0 0.00 WTAP 9589 genome.wustl.edu 37 6 160169397 160169397 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 160169397 160169397 G C SNP WTAP ENST00000358372 human ensembl 70_37 +1 known missense c.448 p.D150H 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 153 98 39.04 271 0 0.00 WTAP 9589 genome.wustl.edu 37 6 160176556 160176556 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 160176556 160176556 G C SNP WTAP ENST00000358372 human ensembl 70_37 +1 known silent c.1104 p.V368 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 21 12 36.36 36 0 0.00 WTIP 126374 genome.wustl.edu 37 19 34973057 34973057 + Nonsense_Mutation SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 34973057 34973057 G T SNP WTIP ENST00000270288 human ensembl 70_37 +1 known nonsense c.850 p.E284* 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 11 9 45.00 12 0 0.00 WTIP 126374 genome.wustl.edu 37 19 34973058 34973058 + Missense_Mutation SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 34973058 34973058 A T SNP WTIP ENST00000270288 human ensembl 70_37 +1 known missense c.851 p.E284V 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 11 9 45.00 12 0 0.00 WTIP 126374 genome.wustl.edu 37 19 34991087 34991087 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 34991087 34991087 G A SNP WTIP ENST00000270288 human ensembl 70_37 +1 known silent c.1878 p.A626 0.321 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 39 17 30.36 54 0 0.00 WWC1 23286 genome.wustl.edu 37 5 167849048 167849048 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 167849048 167849048 G A SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1220 p.R407K 0.999 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 77 18 18.95 81 0 0.00 WWC1 23286 genome.wustl.edu 37 5 167850938 167850938 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 167850938 167850938 G A SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1675 p.D559N 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 23 13 35.14 40 0 0.00 WWC1 23286 genome.wustl.edu 37 5 167851052 167851052 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 167851052 167851052 G C SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1789 p.E597Q 0.557 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 8 10 55.56 12 0 0.00 WWC1 23286 genome.wustl.edu 37 5 167881043 167881045 + In_Frame_Del DEL GGA GGA - TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 5 167881043 167881045 GGA - DEL WWC1 ENST00000265293 human ensembl 70_37 +1 known in_frame_del c.2596_2598 p.G866in_frame_del 0.441:0.365:0.522 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 20 38 65.52 79 0 0.00 WWC2 80014 genome.wustl.edu 37 4 184169899 184169899 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 184169899 184169899 G C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.765 p.L255F 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ENSG00000151718 42 11 20.75 40 0 0.00 WWC2 80014 genome.wustl.edu 37 4 184175053 184175053 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 184175053 184175053 G A SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1097 p.R366H 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ENSG00000151718 34 35 50.72 56 0 0.00 WWC2 80014 genome.wustl.edu 37 4 184182333 184182333 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 4 184182333 184182333 G C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1557 p.Q519H 0.586 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ENSG00000151718 55 15 21.43 82 0 0.00 WWC2 80014 genome.wustl.edu 37 4 184182427 184182427 + Missense_Mutation SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 184182427 184182427 T C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1651 p.S551P 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ENSG00000151718 47 24 33.80 54 0 0.00 WWC2-AS2 152641 genome.wustl.edu 37 4 184019362 184019362 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 184019362 184019362 G A SNP WWC2-AS2 ENST00000506413 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors WWC2-AS2 HGNC ENSG00000251359 51 32 38.55 52 0 0.00 WWC3 55841 genome.wustl.edu 37 X 10035326 10035326 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 10035326 10035326 G C SNP WWC3 ENST00000380861 human ensembl 70_37 +1 known splice_site c.17-1 e2-1 1.000 - - - no_errors WWC3 HGNC ENSG00000047644 63 39 38.24 81 0 0.00 WWC3 55841 genome.wustl.edu 37 X 10085617 10085617 + Frame_Shift_Del DEL G G - TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 10085617 10085617 G - DEL WWC3 ENST00000380861 human ensembl 70_37 +1 known frame_shift_del c.1518 p.D508fs 0.908 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 20 5 20.00 31 0 0.00 WWC3 55841 genome.wustl.edu 37 X 10106899 10106899 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 10106899 10106899 C T SNP WWC3 ENST00000380861 human ensembl 70_37 +1 known missense c.3007 p.R1003C 0.727 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 21 3 12.50 33 0 0.00 WWOX 51741 genome.wustl.edu 37 16 78420775 78420775 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 78420775 78420775 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.535 p.A179T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 64 10 13.51 53 0 0.00 WWOX 51741 genome.wustl.edu 37 16 78458774 78458774 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 78458774 78458774 C T SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.613 p.H205Y 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 29 13 30.95 58 0 0.00 WWOX 51741 genome.wustl.edu 37 16 78466405 78466405 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 78466405 78466405 C G SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.812 p.S271C 1.000 NULL pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 25 13 34.21 37 0 0.00 WWOX 51741 genome.wustl.edu 37 16 78466537 78466537 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 78466537 78466537 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.944 p.G315E 1.000 prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 28 7 20.00 41 0 0.00 WWOX 51741 genome.wustl.edu 37 16 78466571 78466571 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 78466571 78466571 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.978 p.M326I 1.000 prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 37 11 22.92 34 0 0.00 WWP2 11060 genome.wustl.edu 37 16 69874086 69874086 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 16 69874086 69874086 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.398 p.S133L 0.997 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 81 16 16.16 97 0 0.00 WWP2 11060 genome.wustl.edu 37 16 69874115 69874115 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 69874115 69874115 G A SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.427 p.G143R 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 59 22 27.16 118 0 0.00 WWP2 11060 genome.wustl.edu 37 16 69968006 69968006 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 69968006 69968006 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.1816 p.R606C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 22 13 37.14 52 0 0.00 WWP2 11060 genome.wustl.edu 37 16 69971535 69971535 + Nonsense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 69971535 69971535 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known nonsense c.2323 p.Q775* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 24 4 14.29 34 0 0.00 WWP2 11060 genome.wustl.edu 37 16 69974027 69974027 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 69974027 69974027 G A SNP WWP2 ENST00000544162 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WWP2 HGNC ENSG00000198373 14 14 48.28 45 0 0.00 XAB2 56949 genome.wustl.edu 37 19 7685819 7685819 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7685819 7685819 C T SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known silent c.1884 p.Q628 1.000 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 55 13 19.12 70 0 0.00 XAB2 56949 genome.wustl.edu 37 19 7689278 7689278 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7689278 7689278 G A SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known silent c.876 p.F292 1.000 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 78 31 28.44 127 0 0.00 XAB2 56949 genome.wustl.edu 37 19 7693181 7693181 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7693181 7693181 C T SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known missense c.55 p.E19K 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 59 10 14.49 81 0 0.00 XAF1 54739 genome.wustl.edu 37 17 6659439 6659439 + RNA SNP T T G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 6659439 6659439 T G SNP XAF1 ENST00000575267 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors XAF1 HGNC ENSG00000132530 16 27 62.79 62 0 0.00 XAGE3 170626 genome.wustl.edu 37 X 52893804 52893804 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 52893804 52893804 C A SNP XAGE3 ENST00000346279 human ensembl 70_37 -1 known missense c.313 p.G105C 0.006 pfam_GAGE pfam_GAGE - no_errors XAGE3 HGNC ENSG00000171402 55 21 27.63 86 0 0.00 XCL1 6375 genome.wustl.edu 37 1 168549377 168549377 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 168549377 168549377 G T SNP XCL1 ENST00000367818 human ensembl 70_37 +1 known missense c.138 p.K46N 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 - no_errors XCL1 HGNC ENSG00000143184 42 7 14.29 57 0 0.00 XCL2 6846 genome.wustl.edu 37 1 168511278 168511278 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 168511278 168511278 G T SNP XCL2 ENST00000367819 human ensembl 70_37 -1 known missense c.129 p.S43R 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 - no_errors XCL2 HGNC ENSG00000143185 47 23 32.86 62 0 0.00 XCR1 2829 genome.wustl.edu 37 3 46063162 46063162 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 46063162 46063162 C T SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known nonsense c.278 p.W93* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 27 37 57.81 50 0 0.00 XCR1 2829 genome.wustl.edu 37 3 46063368 46063368 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 3 46063368 46063368 G T SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.72 p.N24K 0.000 prints_Chemokine_lymphotactin_XCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 35 4 10.26 55 0 0.00 XCR1 2829 genome.wustl.edu 37 3 46063416 46063416 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 3 46063416 46063416 C G SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.24 p.E8D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 27 5 15.62 54 0 0.00 XCR1 2829 genome.wustl.edu 37 3 46063418 46063418 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 46063418 46063418 C G SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.22 p.E8Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 26 24 48.00 37 0 0.00 XDH 7498 genome.wustl.edu 37 2 31570422 31570422 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 31570422 31570422 G A SNP XDH ENST00000379416 human ensembl 70_37 -1 known missense c.3242 p.S1081F 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 70 8 10.26 57 0 0.00 XDH 7498 genome.wustl.edu 37 2 31572578 31572578 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 31572578 31572578 C T SNP XDH ENST00000379416 human ensembl 70_37 -1 known silent c.2943 p.R981 0.857 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 34 9 20.93 40 0 0.00 XDH 7498 genome.wustl.edu 37 2 31605889 31605889 + Missense_Mutation SNP C C A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 2 31605889 31605889 C A SNP XDH ENST00000379416 human ensembl 70_37 -1 known missense c.1016 p.G339V 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 35 4 10.26 61 0 0.00 XIAP 331 genome.wustl.edu 37 X 123025119 123025119 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123025119 123025119 G T SNP XIAP ENST00000355640 human ensembl 70_37 +1 known nonsense c.1009 p.E337* 1.000 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 39 21 35.00 89 0 0.00 XIRP1 165904 genome.wustl.edu 37 3 39226849 39226849 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 39226849 39226849 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known missense c.4088 p.R1363Q 0.010 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 69 35 33.65 86 0 0.00 XIRP1 165904 genome.wustl.edu 37 3 39228399 39228399 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 39228399 39228399 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known silent c.2538 p.L846 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 12 3 20.00 20 0 0.00 XIRP1 165904 genome.wustl.edu 37 3 39229161 39229161 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 39229161 39229161 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known silent c.1776 p.Q592 0.998 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 34 22 39.29 59 0 0.00 XIRP1 165904 genome.wustl.edu 37 3 39230622 39230622 + Silent SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 3 39230622 39230622 G T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known silent c.315 p.A105 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 13 4 23.53 38 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168067270 168067270 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 168067270 168067270 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.588 p.E196 0.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 35 5 12.50 30 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168096425 168096425 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 168096425 168096425 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.919 p.E307K 0.951 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 44 26 37.14 67 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168098385 168098385 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 168098385 168098385 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.1141 p.D381N 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 17 3 14.29 23 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168099826 168099826 + Missense_Mutation SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 168099826 168099826 A G SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.1924 p.K642E 0.997 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 45 15 25.00 60 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168100990 168100990 + Missense_Mutation SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 2 168100990 168100990 G T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.3088 p.D1030Y 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 34 4 10.53 31 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168101840 168101840 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 168101840 168101840 G C SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.3938 p.R1313T 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 10 8 44.44 67 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168102429 168102429 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 168102429 168102429 C T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.4527 p.I1509 0.003 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 7 7 50.00 21 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168105466 168105466 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 168105466 168105466 C T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.7564 p.H2522Y 0.998 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 92 41 30.83 162 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168106692 168106692 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 168106692 168106692 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.8790 p.V2930 0.454 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 30 17 36.17 24 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168107674 168107674 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 168107674 168107674 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.9772 p.A3258T 0.999 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 77 13 14.44 102 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168108178 168108178 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 168108178 168108178 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.10276 p.E3426K 0.983 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 85 19 18.27 113 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168114788 168114788 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 168114788 168114788 G A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.1831 p.E611K 0.013 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 6 4 40.00 16 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168115064 168115064 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 168115064 168115064 G A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2107 p.E703K 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 6 6 50.00 12 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168115174 168115174 + Missense_Mutation SNP G G T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 2 168115174 168115174 G T SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2217 p.K739N 0.990 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 11 3 21.43 32 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168115287 168115287 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 168115287 168115287 C A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2330 p.A777E 0.568 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 13 6 31.58 15 0 0.00 XIRP2 129446 genome.wustl.edu 37 2 168115687 168115687 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 168115687 168115687 A T SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known silent c.2730 p.G910 0.004 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 63 38 37.62 70 0 0.00 XIST 7503 genome.wustl.edu 37 X 73041425 73041425 + RNA SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73041425 73041425 T G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 56 13 18.84 77 0 0.00 XIST 7503 genome.wustl.edu 37 X 73042609 73042609 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 73042609 73042609 C A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 61 11 15.28 41 0 0.00 XIST 7503 genome.wustl.edu 37 X 73042889 73042889 + RNA SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 73042889 73042889 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 78 10 11.36 76 0 0.00 XIST 7503 genome.wustl.edu 37 X 73043579 73043579 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 73043579 73043579 C A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 77 35 31.25 89 0 0.00 XIST 7503 genome.wustl.edu 37 X 73043746 73043746 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73043746 73043746 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 29 14 32.56 42 0 0.00 XIST 7503 genome.wustl.edu 37 X 73043756 73043756 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 73043756 73043756 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.243 - - - no_errors XIST HGNC ENSG00000229807 45 11 19.64 50 0 0.00 XIST 7503 genome.wustl.edu 37 X 73044044 73044044 + RNA SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 X 73044044 73044044 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 17 18 51.43 22 0 0.00 XIST 7503 genome.wustl.edu 37 X 73044562 73044562 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 73044562 73044562 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 84 25 22.94 91 0 0.00 XIST 7503 genome.wustl.edu 37 X 73045954 73045954 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 73045954 73045954 G T SNP XIST ENST00000416330 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors XIST HGNC ENSG00000229807 23 9 28.12 38 0 0.00 XIST 7503 genome.wustl.edu 37 X 73045990 73045990 + RNA SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73045990 73045990 C G SNP XIST ENST00000416330 human ensembl 70_37 -1 known rna NULL NULL 0.577 - - - no_errors XIST HGNC ENSG00000229807 41 9 18.00 52 0 0.00 XIST 7503 genome.wustl.edu 37 X 73046247 73046247 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 73046247 73046247 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 28 10 26.32 49 0 0.00 XIST 7503 genome.wustl.edu 37 X 73046776 73046776 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 73046776 73046776 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors XIST HGNC ENSG00000229807 84 13 13.40 76 0 0.00 XIST 7503 genome.wustl.edu 37 X 73046913 73046913 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 73046913 73046913 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.772 - - - no_errors XIST HGNC ENSG00000229807 56 15 21.13 53 0 0.00 XIST 7503 genome.wustl.edu 37 X 73047228 73047228 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 73047228 73047228 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.255 - - - no_errors XIST HGNC ENSG00000229807 4 5 55.56 21 0 0.00 XIST 7503 genome.wustl.edu 37 X 73047699 73047699 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 73047699 73047699 G T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 31 4 11.43 26 0 0.00 XIST 7503 genome.wustl.edu 37 X 73063292 73063292 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 73063292 73063292 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 11 4 26.67 41 0 0.00 XIST 7503 genome.wustl.edu 37 X 73063712 73063712 + RNA SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 73063712 73063712 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 29 7 19.44 44 0 0.00 XIST 7503 genome.wustl.edu 37 X 73064199 73064199 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73064199 73064199 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 58 18 23.68 78 0 0.00 XIST 7503 genome.wustl.edu 37 X 73064409 73064409 + RNA SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d X 73064409 73064409 G C SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 30 19 38.78 55 0 0.00 XIST 7503 genome.wustl.edu 37 X 73064429 73064429 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 73064429 73064429 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 35 13 27.08 102 0 0.00 XIST 7503 genome.wustl.edu 37 X 73065175 73065175 + RNA SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 73065175 73065175 G T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 24 31 56.36 104 0 0.00 XIST 7503 genome.wustl.edu 37 X 73065497 73065497 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 73065497 73065497 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 119 23 16.20 68 0 0.00 XIST 7503 genome.wustl.edu 37 X 73066381 73066381 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 73066381 73066381 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 46 14 23.33 44 0 0.00 XIST 7503 genome.wustl.edu 37 X 73069063 73069063 + RNA SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 73069063 73069063 A G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ENSG00000229807 29 11 27.50 37 0 0.00 XIST 7503 genome.wustl.edu 37 X 73069529 73069529 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 73069529 73069529 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 26 17 39.53 35 0 0.00 XIST 7503 genome.wustl.edu 37 X 73069529 73069529 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 73069529 73069529 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 28 21 42.86 48 0 0.00 XIST 7503 genome.wustl.edu 37 X 73071972 73071972 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 73071972 73071972 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors XIST HGNC ENSG00000229807 36 6 14.29 50 0 0.00 XIST 7503 genome.wustl.edu 37 X 73072124 73072124 + RNA SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 73072124 73072124 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XIST HGNC ENSG00000229807 211 63 22.99 278 0 0.00 XK 7504 genome.wustl.edu 37 X 37545231 37545231 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 37545231 37545231 C T SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.17 p.S6L 0.992 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 31 8 20.51 29 0 0.00 XK 7504 genome.wustl.edu 37 X 37587667 37587667 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 37587667 37587667 T A SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.1287 p.S429R 0.002 NULL pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 28 25 47.17 46 0 0.00 XK 7504 genome.wustl.edu 37 X 37587667 37587667 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 37587667 37587667 T A SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.1287 p.S429R 0.002 NULL pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 58 46 43.81 106 0 0.00 XKR3 150165 genome.wustl.edu 37 22 17265193 17265193 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 17265193 17265193 C G SNP XKR3 ENST00000331428 human ensembl 70_37 -1 known silent c.696 p.P232 0.006 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 68 11 13.92 96 0 0.00 XKR3 150165 genome.wustl.edu 37 22 17288683 17288683 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 17288683 17288683 C G SNP XKR3 ENST00000331428 human ensembl 70_37 -1 known missense c.281 p.R94T 0.031 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 137 18 11.54 168 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56015526 56015526 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 8 56015526 56015526 C G SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.478 p.Q160E 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 38 37 49.33 50 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56015610 56015610 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 56015610 56015610 C T SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.562 p.P188S 0.039 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 31 8 20.51 20 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56015667 56015667 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 8 56015667 56015667 G A SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.619 p.A207T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 56 8 12.50 47 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56015801 56015801 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 8 56015801 56015801 C T SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known silent c.753 p.C251 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 83 24 22.43 105 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56436066 56436066 + Silent SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 56436066 56436066 C A SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known silent c.1233 p.I411 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 104 74 41.57 149 0 0.00 XKR4 114786 genome.wustl.edu 37 8 56436429 56436429 + Silent SNP C C T TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 8 56436429 56436429 C T SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known silent c.1596 p.A532 0.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 93 43 31.62 105 0 0.00 XKR5 389610 genome.wustl.edu 37 8 6669501 6669501 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 6669501 6669501 T C SNP XKR5 ENST00000405979 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 17 12 41.38 49 0 0.00 XKR7 343702 genome.wustl.edu 37 20 30585091 30585091 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 30585091 30585091 G A SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1571 p.R524Q 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 31 12 27.91 47 0 0.00 XKR7 343702 genome.wustl.edu 37 20 30585105 30585105 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 30585105 30585105 C T SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1585 p.R529C 0.900 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 37 10 21.28 27 0 0.00 XKR7 343702 genome.wustl.edu 37 20 30585132 30585132 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 30585132 30585132 C G SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1612 p.H538D 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 40 10 20.00 49 0 0.00 XKR8 55113 genome.wustl.edu 37 1 28293330 28293330 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 28293330 28293330 C G SNP XKR8 ENST00000373884 human ensembl 70_37 +1 known silent c.807 p.L269 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 187 40 17.62 137 0 0.00 XKR8 55113 genome.wustl.edu 37 1 28293345 28293345 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 28293345 28293345 C T SNP XKR8 ENST00000373884 human ensembl 70_37 +1 known silent c.822 p.F274 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 186 39 17.33 141 0 0.00 XKR9 389668 genome.wustl.edu 37 8 71593475 71593475 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 71593475 71593475 C A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known missense c.182 p.S61Y 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 65 10 13.33 64 0 0.00 XKR9 389668 genome.wustl.edu 37 8 71646350 71646350 + Silent SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 71646350 71646350 T A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known silent c.813 p.L271 0.044 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 29 4 12.12 40 0 0.00 XKR9 389668 genome.wustl.edu 37 8 71646621 71646621 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 71646621 71646621 C A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known missense c.1084 p.L362I 0.000 NULL pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 25 4 13.79 31 0 0.00 XKRX 402415 genome.wustl.edu 37 X 100169463 100169463 + Missense_Mutation SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 100169463 100169463 A C SNP XKRX ENST00000328526 human ensembl 70_37 -1 known missense c.1253 p.L418W 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 26 3 10.34 49 0 0.00 XKRX 402415 genome.wustl.edu 37 X 100169813 100169813 + Silent SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 X 100169813 100169813 G A SNP XKRX ENST00000328526 human ensembl 70_37 -1 known silent c.903 p.F301 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 60 18 23.08 40 0 0.00 XKRX 402415 genome.wustl.edu 37 X 100177950 100177950 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 100177950 100177950 C T SNP XKRX ENST00000328526 human ensembl 70_37 -1 known missense c.475 p.E159K 0.319 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 45 7 13.46 47 0 0.00 XPA 7507 genome.wustl.edu 37 9 100447309 100447309 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100447309 100447309 G A SNP XPA ENST00000375128 human ensembl 70_37 -1 known missense c.569 p.S190F 1.000 superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 35 44 55.70 47 0 0.00 XPA 7507 genome.wustl.edu 37 9 100449429 100449429 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 100449429 100449429 C T SNP XPA ENST00000375128 human ensembl 70_37 -1 known silent c.504 p.K168 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 32 14 30.43 25 0 0.00 XPC 7508 genome.wustl.edu 37 3 14199837 14199837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14199837 14199837 C T SNP XPC ENST00000285021 human ensembl 70_37 -1 known missense c.1546 p.D516N 0.116 pfam_Rad4/PNGase_transGLS-fold,tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 29 13 30.95 58 0 0.00 XPC 7508 genome.wustl.edu 37 3 14199944 14199944 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 14199944 14199944 G A SNP XPC ENST00000285021 human ensembl 70_37 -1 known missense c.1439 p.S480F 0.414 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 25 11 30.56 36 0 0.00 XPNPEP1 7511 genome.wustl.edu 37 10 111624695 111624695 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 111624695 111624695 G C SNP XPNPEP1 ENST00000502895 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XPNPEP1 HGNC ENSG00000108039 5 9 64.29 10 0 0.00 XPNPEP1 7511 genome.wustl.edu 37 10 111624807 111624807 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 111624807 111624807 T G SNP XPNPEP1 ENST00000502895 human ensembl 70_37 -1 known rna NULL NULL 0.455 - - - no_errors XPNPEP1 HGNC ENSG00000108039 8 9 52.94 47 0 0.00 XPNPEP1 7511 genome.wustl.edu 37 10 111637621 111637621 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 111637621 111637621 G A SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known nonsense c.1246 p.Q416* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 47 24 33.80 79 0 0.00 XPNPEP1 7511 genome.wustl.edu 37 10 111651574 111651574 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 111651574 111651574 G A SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known silent c.321 p.I107 0.987 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 34 16 32.00 30 0 0.00 XPNPEP1 7511 genome.wustl.edu 37 10 111652824 111652824 + Missense_Mutation SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 111652824 111652824 T C SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known missense c.256 p.I86V 1.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 24 18 42.86 85 0 0.00 XPNPEP2 7512 genome.wustl.edu 37 X 128876102 128876102 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 128876102 128876102 C A SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.68 p.T23K 0.057 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 231 32 12.17 212 0 0.00 XPNPEP2 7512 genome.wustl.edu 37 X 128885728 128885728 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 128885728 128885728 C G SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.747 p.F249L 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 10 36 78.26 60 0 0.00 XPNPEP2 7512 genome.wustl.edu 37 X 128902410 128902410 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 128902410 128902410 G C SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.1974 p.W658C 0.002 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 69 27 28.12 59 0 0.00 XPNPEP3 63929 genome.wustl.edu 37 22 41318403 41318403 + Silent SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 22 41318403 41318403 C G SNP XPNPEP3 ENST00000357137 human ensembl 70_37 +1 known silent c.1122 p.L374 0.965 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 26 17 39.53 52 0 0.00 XPO1 7514 genome.wustl.edu 37 2 61709528 61709528 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 61709528 61709528 G A SNP XPO1 ENST00000401558 human ensembl 70_37 -1 known missense c.2959 p.P987S 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 94 25 21.01 87 0 0.00 XPO1 7514 genome.wustl.edu 37 2 61711217 61711217 + Missense_Mutation SNP A A C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 61711217 61711217 A C SNP XPO1 ENST00000401558 human ensembl 70_37 -1 known missense c.2532 p.H844Q 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 44 28 38.89 41 0 0.00 XPO1 7514 genome.wustl.edu 37 2 61726050 61726051 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 61726050 61726051 - A INS XPO1 ENST00000401558 human ensembl 70_37 -1 known splice_site_ins c.591-3_591-2 e7-2 1.000:0.996 - - - no_errors XPO1 HGNC ENSG00000082898 14 5 26.32 12 0 0.00 XPO4 64328 genome.wustl.edu 37 13 21358048 21358048 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 21358048 21358048 G A SNP XPO4 ENST00000255305 human ensembl 70_37 -1 known missense c.3269 p.S1090F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 41 6 12.77 61 0 0.00 XPO4 64328 genome.wustl.edu 37 13 21395946 21395946 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 21395946 21395946 C T SNP XPO4 ENST00000255305 human ensembl 70_37 -1 known missense c.1070 p.R357Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 26 20 43.48 34 0 0.00 XPO5 57510 genome.wustl.edu 37 6 43492253 43492253 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43492253 43492253 G A SNP XPO5 ENST00000265351 human ensembl 70_37 -1 known missense c.3433 p.R1145C 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 17 18 51.43 44 0 0.00 XPO5 57510 genome.wustl.edu 37 6 43534910 43534910 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 6 43534910 43534910 C T SNP XPO5 ENST00000265351 human ensembl 70_37 -1 known missense c.830 p.R277K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 30 6 16.67 14 0 0.00 XPO6 23214 genome.wustl.edu 37 16 28143700 28143700 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28143700 28143700 C G SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known missense c.1561 p.E521Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 50 12 19.35 49 0 0.00 XPO6 23214 genome.wustl.edu 37 16 28187269 28187269 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 28187269 28187269 G A SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known missense c.355 p.R119C 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 39 7 15.22 55 0 0.00 XPO6 23214 genome.wustl.edu 37 16 28192332 28192332 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 28192332 28192332 G C SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known silent c.24 p.L8 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 51 24 32.00 69 0 0.00 XPO7 23039 genome.wustl.edu 37 8 21824455 21824455 + Missense_Mutation SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 8 21824455 21824455 G C SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.106 p.E36Q 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 28 4 12.50 39 0 0.00 XPO7 23039 genome.wustl.edu 37 8 21837640 21837640 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 21837640 21837640 T C SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.910 p.F304L 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 21 42 66.67 104 0 0.00 XPO7 23039 genome.wustl.edu 37 8 21845357 21845357 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 21845357 21845357 C T SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known silent c.1803 p.F601 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 20 6 23.08 37 0 0.00 XPO7 23039 genome.wustl.edu 37 8 21856640 21856640 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 21856640 21856640 C G SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.2494 p.Q832E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 24 7 22.58 22 0 0.00 XPOT 11260 genome.wustl.edu 37 12 64813963 64813963 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 64813963 64813963 G A SNP XPOT ENST00000332707 human ensembl 70_37 +1 known silent c.603 p.V201 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 34 14 29.17 48 0 0.00 XPR1 9213 genome.wustl.edu 37 1 180843068 180843068 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 180843068 180843068 G A SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known missense c.1798 p.E600K 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 21 16 43.24 34 0 0.00 XPR1 9213 genome.wustl.edu 37 1 180849254 180849254 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 180849254 180849254 G C SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known silent c.1851 p.L617 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 62 41 39.81 100 0 0.00 XPR1 9213 genome.wustl.edu 37 1 180853188 180853188 + Missense_Mutation SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 1 180853188 180853188 G A SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known missense c.2077 p.E693K 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 45 51 53.12 69 0 0.00 XRCC1 7515 genome.wustl.edu 37 19 44047769 44047769 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44047769 44047769 C G SNP XRCC1 ENST00000262887 human ensembl 70_37 -1 known missense c.1783 p.E595Q 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 59 27 31.40 69 0 0.00 XRCC1 7515 genome.wustl.edu 37 19 44056964 44056964 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 44056964 44056964 G A SNP XRCC1 ENST00000262887 human ensembl 70_37 -1 known missense c.808 p.P270S 0.000 NULL pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 32 29 47.54 57 0 0.00 XRCC3 7517 genome.wustl.edu 37 14 104165740 104165740 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 104165740 104165740 C G SNP XRCC3 ENST00000352127 human ensembl 70_37 -1 known silent c.735 p.L245 0.939 pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_RNAP_asu_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 20 20 48.78 43 0 0.00 XRCC3 7517 genome.wustl.edu 37 14 104166942 104166942 + RNA SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 104166942 104166942 G A SNP XRCC3 ENST00000555451 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors XRCC3 HGNC ENSG00000126215 23 44 65.67 73 0 0.00 XRCC4 7518 genome.wustl.edu 37 5 82606692 82606692 + RNA SNP A A G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 82606692 82606692 A G SNP XRCC4 ENST00000542685 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors XRCC4 HGNC ENSG00000152422 18 10 35.71 28 0 0.00 XRCC5 7520 genome.wustl.edu 37 2 217002874 217002874 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 217002874 217002874 G A SNP XRCC5 ENST00000392132 human ensembl 70_37 +1 known silent c.1314 p.L438 1.000 pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku - no_errors XRCC5 HGNC ENSG00000079246 49 49 50.00 52 0 0.00 XRCC6 2547 genome.wustl.edu 37 22 42042909 42042910 + Frame_Shift_Ins INS - - AA TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 22 42042909 42042910 - AA INS XRCC6 ENST00000359308 human ensembl 70_37 +1 known frame_shift_ins c.783_784 p.L262fs 0.444:0.469 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 22 11 33.33 46 0 0.00 XRCC6 2547 genome.wustl.edu 37 22 42049549 42049549 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 42049549 42049549 C T SNP XRCC6 ENST00000359308 human ensembl 70_37 +1 known silent c.1146 p.F382 0.989 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 48 16 25.00 75 0 0.00 XRN1 54464 genome.wustl.edu 37 3 142074286 142074286 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 142074286 142074286 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3725 p.G1242E 0.997 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 190 40 17.32 84 0 0.00 XRN1 54464 genome.wustl.edu 37 3 142075797 142075797 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 142075797 142075797 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3629 p.G1210E 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 33 26 44.07 36 0 0.00 XRN1 54464 genome.wustl.edu 37 3 142078732 142078732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 142078732 142078732 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3436 p.E1146K 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 19 9 32.14 40 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21284093 21284093 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 21284093 21284093 C T SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.57 p.V19 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 9 5 35.71 17 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21309246 21309246 + Nonsense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 21309246 21309246 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known nonsense c.365 p.S122* 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 25 8 24.24 34 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21314412 21314412 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 21314412 21314412 G A SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known nonsense c.1004 p.W335* 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 30 15 33.33 82 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21328885 21328885 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 21328885 21328885 G A SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.1767 p.T589 0.692 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 85 17 16.67 72 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21335437 21335437 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 21335437 21335437 C T SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.1947 p.L649 0.193 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 25 33 56.90 110 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21367612 21367612 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 21367612 21367612 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known missense c.2755 p.P919A 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 44 29 39.73 35 0 0.00 XRN2 22803 genome.wustl.edu 37 20 21367612 21367612 + Missense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 20 21367612 21367612 C G SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known missense c.2755 p.P919A 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 80 62 43.66 119 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74554326 74554326 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 11 74554326 74554326 C G SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.2298 p.E766D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 23 17 42.50 66 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74651876 74651876 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 74651876 74651876 C G SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known silent c.48 p.L16 0.935 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 27 10 27.03 27 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74651899 74651899 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 74651899 74651899 G A SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known silent c.25 p.L9 0.963 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 30 4 11.76 52 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74651913 74651913 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 74651913 74651913 G A SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.11 p.S4L 0.296 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 39 5 11.36 45 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74651915 74651915 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 74651915 74651915 G C SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.9 p.F3L 0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 11 3 21.43 19 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74656094 74656094 + RNA SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 74656094 74656094 C G SNP XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.782 - - - no_errors XRRA1 HGNC ENSG00000166435 46 22 32.35 31 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74656099 74656099 + RNA DEL T T - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 74656099 74656099 T - DEL XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors XRRA1 HGNC ENSG00000166435 23 5 17.86 33 0 0.00 XRRA1 143570 genome.wustl.edu 37 11 74656105 74656105 + RNA SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 74656105 74656105 T G SNP XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.903 - - - no_errors XRRA1 HGNC ENSG00000166435 18 12 40.00 26 0 0.00 XXYLT1 152002 genome.wustl.edu 37 3 194947453 194947453 + Nonsense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 194947453 194947453 G A SNP XXYLT1 ENST00000310380 human ensembl 70_37 -1 known nonsense c.637 p.Q213* 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 45 6 11.76 24 0 0.00 XXYLT1 152002 genome.wustl.edu 37 3 194947580 194947580 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 194947580 194947580 G A SNP XXYLT1 ENST00000310380 human ensembl 70_37 -1 known silent c.510 p.I170 0.950 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 17 8 30.77 40 0 0.00 XYLB 9942 genome.wustl.edu 37 3 38408351 38408351 + Missense_Mutation SNP A A T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 38408351 38408351 A T SNP XYLB ENST00000207870 human ensembl 70_37 +1 known missense c.560 p.Y187F 0.946 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 33 17 34.00 36 0 0.00 XYLB 9942 genome.wustl.edu 37 3 38411732 38411733 + RNA DEL CA CA - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 38411732 38411733 CA - DEL XYLB ENST00000487569 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 26 4 13.33 31 0 0.00 XYLT1 64131 genome.wustl.edu 37 16 17202795 17202795 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 17202795 17202795 G A SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.2637 p.L879 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 72 12 14.29 103 0 0.00 XYLT1 64131 genome.wustl.edu 37 16 17292212 17292212 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 17292212 17292212 G T SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.1146 p.R382 0.002 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 33 4 10.81 31 0 0.00 XYLT1 64131 genome.wustl.edu 37 16 17353101 17353101 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 17353101 17353101 G A SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.657 p.P219 0.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 31 19 38.00 50 0 0.00 XYLT2 64132 genome.wustl.edu 37 17 48432882 48432882 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48432882 48432882 C T SNP XYLT2 ENST00000017003 human ensembl 70_37 +1 known missense c.1028 p.A343V 0.997 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 33 4 10.81 23 0 0.00 YAF2 10138 genome.wustl.edu 37 12 42554402 42554402 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 42554402 42554402 C T SNP YAF2 ENST00000442791 human ensembl 70_37 -1 known missense c.604 p.E202K 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 47 19 28.79 63 0 0.00 YAF2 10138 genome.wustl.edu 37 12 42554468 42554468 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 42554468 42554468 C G SNP YAF2 ENST00000442791 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 33 15 31.25 68 0 0.00 YAF2 10138 genome.wustl.edu 37 12 42629419 42629419 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 42629419 42629419 C T SNP YAF2 ENST00000541702 human ensembl 70_37 -1 known rna NULL NULL 0.970 - - - no_errors YAF2 HGNC ENSG00000015153 10 9 47.37 9 0 0.00 YAP1 10413 genome.wustl.edu 37 11 101981896 101981896 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 101981896 101981896 G A SNP YAP1 ENST00000282441 human ensembl 70_37 +1 known missense c.317 p.R106Q 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors YAP1 HGNC ENSG00000137693 55 13 19.12 46 0 0.00 YARS 8565 genome.wustl.edu 37 1 33245004 33245004 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 33245004 33245004 C G SNP YARS ENST00000373477 human ensembl 70_37 -1 known missense c.1455 p.K485N 1.000 superfamily_NA-bd_OB-fold-like pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 27 5 15.62 60 0 0.00 YARS 8565 genome.wustl.edu 37 1 33245679 33245679 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33245679 33245679 C T SNP YARS ENST00000490826 human ensembl 70_37 -1 known rna NULL NULL 0.618 - - - no_errors YARS HGNC ENSG00000134684 49 23 31.94 67 0 0.00 YARS 8565 genome.wustl.edu 37 1 33245725 33245725 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33245725 33245725 C G SNP YARS ENST00000373477 human ensembl 70_37 -1 known missense c.1295 p.R432T 1.000 pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 68 27 28.42 79 0 0.00 YARS 8565 genome.wustl.edu 37 1 33256707 33256707 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 33256707 33256707 C T SNP YARS ENST00000470377 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC ENSG00000134684 30 18 37.50 28 0 0.00 YARS2 51067 genome.wustl.edu 37 12 32906904 32906904 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 32906904 32906904 G C SNP YARS2 ENST00000324868 human ensembl 70_37 -1 known missense c.895 p.P299A 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 36 5 12.20 39 0 0.00 YARS2 51067 genome.wustl.edu 37 12 32908137 32908137 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 32908137 32908137 G C SNP YARS2 ENST00000324868 human ensembl 70_37 -1 known silent c.672 p.L224 0.995 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 41 22 34.92 69 0 0.00 YBEY 54059 genome.wustl.edu 37 21 47706844 47706844 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 21 47706844 47706844 G C SNP YBEY ENST00000329319 human ensembl 70_37 +1 known missense c.17 p.R6T 0.044 NULL pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd - no_errors YBEY HGNC ENSG00000182362 43 10 18.87 52 0 0.00 YBEY 54059 genome.wustl.edu 37 21 47711284 47711284 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 47711284 47711284 C G SNP YBEY ENST00000329319 human ensembl 70_37 +1 known missense c.247 p.P83A 0.209 pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd - no_errors YBEY HGNC ENSG00000182362 19 39 67.24 73 0 0.00 YBX2 51087 genome.wustl.edu 37 17 7196799 7196799 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7196799 7196799 G T SNP YBX2 ENST00000007699 human ensembl 70_37 -1 known silent c.330 p.I110 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 53 20 27.40 89 0 0.00 YEATS2 55689 genome.wustl.edu 37 3 183469915 183469915 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 183469915 183469915 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1024 p.Q342E 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 24 295 92.48 37 0 0.00 YEATS2 55689 genome.wustl.edu 37 3 183469988 183469988 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 183469988 183469988 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1097 p.S366C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 29 396 93.18 48 0 0.00 YEATS2 55689 genome.wustl.edu 37 3 183476669 183476669 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 183476669 183476669 C T SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known silent c.1572 p.I524 0.973 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 38 6 13.64 28 0 0.00 YEATS2 55689 genome.wustl.edu 37 3 183479900 183479900 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 183479900 183479900 G A SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1780 p.E594K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 72 15 17.24 85 0 0.00 YEATS2 55689 genome.wustl.edu 37 3 183495367 183495367 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 183495367 183495367 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.2615 p.S872C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 41 11 21.15 48 0 0.00 YES1 7525 genome.wustl.edu 37 18 724573 724573 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 724573 724573 G A SNP YES1 ENST00000314574 human ensembl 70_37 -1 known nonsense c.1483 p.Q495* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 30 13 30.23 35 0 0.00 YES1 7525 genome.wustl.edu 37 18 742944 742944 + Missense_Mutation SNP T T G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 18 742944 742944 T G SNP YES1 ENST00000314574 human ensembl 70_37 -1 known missense c.1034 p.Y345S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 33 18 35.29 42 0 0.00 YIPF1 54432 genome.wustl.edu 37 1 54325793 54325793 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 54325793 54325793 G A SNP YIPF1 ENST00000539954 human ensembl 70_37 -1 known missense c.940 p.L314F 0.914 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 36 30 45.45 53 0 0.00 YIPF1 54432 genome.wustl.edu 37 1 54354631 54354631 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 54354631 54354631 C G SNP YIPF1 ENST00000539954 human ensembl 70_37 -1 known missense c.55 p.G19R 0.082 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 16 2 11.11 14 0 0.00 YIPF2 78992 genome.wustl.edu 37 19 11034248 11034248 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11034248 11034248 C T SNP YIPF2 ENST00000253031 human ensembl 70_37 -1 known missense c.757 p.E253K 0.051 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 46 14 23.33 44 0 0.00 YIPF2 78992 genome.wustl.edu 37 19 11038333 11038333 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 11038333 11038333 C G SNP YIPF2 ENST00000253031 human ensembl 70_37 -1 known missense c.252 p.Q84H 0.997 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 11 3 21.43 17 0 0.00 YIPF2 78992 genome.wustl.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 11038362 11038364 GCT - DEL YIPF2 ENST00000253031 human ensembl 70_37 -1 known in_frame_del c.223_221 p.Q74in_frame_del 0.404:0.366:0.337 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 21 3 12.50 25 0 0.00 YIPF3 25844 genome.wustl.edu 37 6 43483440 43483440 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43483440 43483440 C T SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known splice_site c.289-1 e3-1 1.000 - - - no_errors YIPF3 HGNC ENSG00000137207 69 32 31.37 42 0 0.00 YIPF3 25844 genome.wustl.edu 37 6 43483678 43483678 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 43483678 43483678 G C SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.237 p.F79L 1.000 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 126 34 20.86 174 0 0.00 YIPF3 25844 genome.wustl.edu 37 6 43483734 43483734 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 43483734 43483734 C T SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.181 p.E61K 1.000 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 28 17 37.78 40 0 0.00 YIPF3 25844 genome.wustl.edu 37 6 43483773 43483773 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43483773 43483773 C G SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 21 9 30.00 34 0 0.00 YIPF5 81555 genome.wustl.edu 37 5 143541826 143541826 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 143541826 143541826 C T SNP YIPF5 ENST00000274496 human ensembl 70_37 -1 known silent c.567 p.L189 0.993 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 16 39 70.91 65 0 0.00 YIPF5 81555 genome.wustl.edu 37 5 143543784 143543785 + Frame_Shift_Ins INS - - T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 143543784 143543785 - T INS YIPF5 ENST00000274496 human ensembl 70_37 -1 known frame_shift_ins c.320_319 p.T107fs 1.000:1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 31 13 29.55 36 0 0.00 YIPF6 286451 genome.wustl.edu 37 X 67751726 67751726 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 67751726 67751726 C T SNP YIPF6 ENST00000462683 human ensembl 70_37 +1 known missense c.596 p.S199F 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 20 4 16.67 20 0 0.00 YIPF7 285525 genome.wustl.edu 37 4 44631497 44631497 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 44631497 44631497 C T SNP YIPF7 ENST00000332990 human ensembl 70_37 -1 known missense c.421 p.D141N 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 52 13 20.00 74 0 0.00 YIPF7 285525 genome.wustl.edu 37 4 44652035 44652035 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 4 44652035 44652035 G C SNP YIPF7 ENST00000332990 human ensembl 70_37 -1 known missense c.155 p.S52C 0.017 NULL pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 33 14 29.79 39 0 0.00 YJEFN3 374887 genome.wustl.edu 37 19 19638112 19638112 + Nonsense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 19638112 19638112 G T SNP YJEFN3 ENST00000553705 human ensembl 70_37 +1 known nonsense c.196 p.E66* 0.997 pfam_GRIM-19 pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 33 4 10.81 60 0 0.00 YJEFN3 374887 genome.wustl.edu 37 19 19638154 19638154 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 19638154 19638154 G T SNP YJEFN3 ENST00000553705 human ensembl 70_37 +1 known missense c.238 p.D80Y 0.995 pfam_GRIM-19 pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 34 4 10.53 38 0 0.00 YJEFN3 374887 genome.wustl.edu 37 19 19638571 19638571 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 19638571 19638571 G A SNP YJEFN3 ENST00000553705 human ensembl 70_37 +1 known missense c.307 p.D103N 0.001 pfam_GRIM-19,superfamily_YjeF_N_dom pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 21 15 41.67 54 0 0.00 YKT6 10652 genome.wustl.edu 37 7 44246081 44246081 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 44246081 44246081 G A SNP YKT6 ENST00000223369 human ensembl 70_37 +1 known silent c.285 p.E95 0.996 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 23 6 20.69 26 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75248736 75248736 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 75248736 75248736 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.1990 p.E664K 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 62 30 32.61 76 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75264371 75264371 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 75264371 75264371 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.2371 p.D791N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 22 4 15.38 33 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75266120 75266120 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 75266120 75266120 C T SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known nonsense c.4120 p.R1374* 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 29 10 25.64 62 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75266333 75266333 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 75266333 75266333 G T SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.4333 p.V1445L 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 1 8 88.89 25 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75266402 75266402 + Splice_Site SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 75266402 75266402 T C SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known splice_site c.4400+2 e5+2 1.000 - - - no_errors YLPM1 Uniprot_genename ENSG00000119596 23 13 36.11 44 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75276095 75276095 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 75276095 75276095 T C SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.4534 p.Y1512H 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 20 18 47.37 24 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75277119 75277119 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 75277119 75277119 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.5224 p.D1742N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 6 4 40.00 15 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75283279 75283279 + Missense_Mutation SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 14 75283279 75283279 G T SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.5571 p.K1857N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 25 4 13.79 60 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75302082 75302082 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75302082 75302082 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.6409 p.E2137K 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 13 3 18.75 39 0 0.00 YLPM1 56252 genome.wustl.edu 37 14 75302098 75302098 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75302098 75302098 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.6425 p.R2142Q 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ENSG00000119596 10 2 16.67 38 0 0.00 YOD1 55432 genome.wustl.edu 37 1 207222842 207222842 + Silent SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 207222842 207222842 T A SNP YOD1 ENST00000315927 human ensembl 70_37 -1 known silent c.570 p.V190 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 107 119 52.42 171 0 0.00 YPEL1 29799 genome.wustl.edu 37 22 22055456 22055456 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 22055456 22055456 C G SNP YPEL1 ENST00000339468 human ensembl 70_37 -1 known missense c.322 p.E108Q 1.000 pfam_Yippee pfam_Yippee - no_errors YPEL1 HGNC ENSG00000100027 21 12 36.36 34 0 0.00 YPEL5 51646 genome.wustl.edu 37 2 30381758 30381758 + RNA DEL A A - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 30381758 30381758 A - DEL YPEL5 ENST00000470120 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YPEL5 HGNC ENSG00000119801 16 2 11.11 20 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69179915 69179915 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179915 69179915 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2086 p.D696H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 17 6 26.09 17 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69179929 69179929 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179929 69179929 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2072 p.R691T 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 18 6 25.00 15 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69179971 69179971 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179971 69179971 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2030 p.R677T 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 21 8 26.67 15 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69188564 69188564 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69188564 69188564 G C SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.1504 p.Q502E 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 60 22 26.83 36 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69188587 69188587 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 69188587 69188587 G T SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.1481 p.P494H 0.994 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 23 3 11.54 42 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69203421 69203421 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 69203421 69203421 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.328 p.D110H 0.997 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 47 10 17.54 32 0 0.00 YTHDC1 91746 genome.wustl.edu 37 4 69203597 69203597 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 69203597 69203597 C T SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.152 p.R51Q 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 11 10 47.62 17 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112862370 112862370 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 112862370 112862370 C G SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.563 p.S188C 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 46 18 28.12 102 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112868672 112868672 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 112868672 112868672 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 23 19 45.24 38 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112868725 112868725 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 112868725 112868725 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.825 p.Q275H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 27 15 34.88 32 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112874788 112874788 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 112874788 112874788 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1120 p.E374Q 1.000 smart_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 11 4 26.67 14 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112878116 112878116 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 5 112878116 112878116 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1411 p.A471T 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 19 14 42.42 26 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112884255 112884255 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 112884255 112884255 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1513 p.E505K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 8 18 69.23 48 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112889509 112889509 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112889509 112889509 A C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.2010 p.Q670H 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 22 3 12.00 23 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112902973 112902973 + Silent SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 5 112902973 112902973 C G SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known silent c.3027 p.L1009 1.000 pfam_DUF1605 pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 84 21 20.00 70 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112917198 112917198 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 112917198 112917198 C T SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known nonsense c.3439 p.Q1147* 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 35 8 18.60 49 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112927792 112927792 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112927792 112927792 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.4129 p.E1377K 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 16 9 36.00 59 0 0.00 YTHDC2 64848 genome.wustl.edu 37 5 112929060 112929060 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 112929060 112929060 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.4273 p.E1425Q 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 24 14 36.84 41 0 0.00 YTHDF2 51441 genome.wustl.edu 37 1 29064809 29064809 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 29064809 29064809 G A SNP YTHDF2 ENST00000373812 human ensembl 70_37 +1 known missense c.91 p.D31N 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 8 42 84.00 53 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64122560 64122560 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 8 64122560 64122560 G A SNP YTHDF3 ENST00000339066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 24 3 11.11 54 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64122594 64122594 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 64122594 64122594 A - DEL YTHDF3 ENST00000339066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 36 4 10.00 45 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64122717 64122717 + RNA SNP A A G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 8 64122717 64122717 A G SNP YTHDF3 ENST00000339066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 27 26 49.06 47 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64122915 64122915 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 64122915 64122915 C T SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors YTHDF3 HGNC ENSG00000185728 33 21 38.18 51 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64123780 64123780 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 64123780 64123780 C T SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors YTHDF3 HGNC ENSG00000185728 10 7 41.18 24 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64124494 64124494 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 64124494 64124494 C G SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 34 7 17.07 28 0 0.00 YTHDF3 253943 genome.wustl.edu 37 8 64125042 64125042 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 64125042 64125042 C G SNP YTHDF3 ENST00000521674 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 11 4 26.67 35 0 0.00 YWHAE 7531 genome.wustl.edu 37 17 1264468 1264468 + Missense_Mutation SNP T T C TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 17 1264468 1264468 T C SNP YWHAE ENST00000264335 human ensembl 70_37 -1 known missense c.496 p.T166A 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 38 11 22.45 51 0 0.00 YWHAE 7531 genome.wustl.edu 37 17 1265207 1265207 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1265207 1265207 G C SNP YWHAE ENST00000264335 human ensembl 70_37 -1 known missense c.360 p.F120L 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 67 29 30.21 68 0 0.00 YWHAH 7533 genome.wustl.edu 37 22 32352575 32352575 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 32352575 32352575 C T SNP YWHAH ENST00000248975 human ensembl 70_37 +1 known silent c.537 p.F179 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ENSG00000128245 14 13 48.15 21 0 0.00 YWHAQ 10971 genome.wustl.edu 37 2 9728405 9728405 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 9728405 9728405 C G SNP YWHAQ ENST00000238081 human ensembl 70_37 -1 known missense c.471 p.K157N 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 14 15 51.72 20 0 0.00 YWHAQ 10971 genome.wustl.edu 37 2 9770573 9770573 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 9770573 9770573 C G SNP YWHAQ ENST00000238081 human ensembl 70_37 -1 known missense c.9 p.K3N 1.000 superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 24 16 40.00 39 0 0.00 YWHAZ 7534 genome.wustl.edu 37 8 101932975 101932975 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 101932975 101932975 C G SNP YWHAZ ENST00000353245 human ensembl 70_37 -1 known missense c.684 p.W228C 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 30 8 21.05 40 0 0.00 YWHAZ 7534 genome.wustl.edu 37 8 101960892 101960893 + Frame_Shift_Ins INS - - T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 101960892 101960893 - T INS YWHAZ ENST00000353245 human ensembl 70_37 -1 known frame_shift_ins c.226_225 p.Q75fs 1.000:0.995 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 387 191 33.04 364 0 0.00 YWHAZ 7534 genome.wustl.edu 37 8 101961105 101961105 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 101961105 101961105 C G SNP YWHAZ ENST00000353245 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 72 44 37.93 77 0 0.00 YY1 7528 genome.wustl.edu 37 14 100705962 100705962 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 100705962 100705962 C T SNP YY1 ENST00000262238 human ensembl 70_37 +1 known silent c.381 p.F127 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 157 35 18.23 170 0 0.00 YY1 7528 genome.wustl.edu 37 14 100728666 100728666 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 100728666 100728666 G C SNP YY1 ENST00000262238 human ensembl 70_37 +1 known missense c.705 p.E235D 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 111 26 18.98 112 0 0.00 YY1AP1 55249 genome.wustl.edu 37 1 155644834 155644834 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155644834 155644834 G C SNP YY1AP1 ENST00000368339 human ensembl 70_37 -1 known silent c.792 p.L264 0.868 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 56 52 48.15 83 0 0.00 YY1AP1 55249 genome.wustl.edu 37 1 155658092 155658092 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155658092 155658092 C A SNP YY1AP1 ENST00000368339 human ensembl 70_37 -1 known missense c.164 p.R55L 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 34 55 61.80 56 0 0.00 YY2 404281 genome.wustl.edu 37 X 21875258 21875258 + Missense_Mutation SNP T T A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 21875258 21875258 T A SNP YY2 ENST00000429584 human ensembl 70_37 +1 known missense c.656 p.L219H 0.956 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 25 7 21.88 41 0 0.00 ZACN 353174 genome.wustl.edu 37 17 74076558 74076558 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74076558 74076558 G A SNP ZACN ENST00000425015 human ensembl 70_37 +1 known silent c.597 p.G199 0.000 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd - no_errors ZACN HGNC ENSG00000186919 34 9 20.93 37 0 0.00 ZACN 353174 genome.wustl.edu 37 17 74076903 74076903 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 74076903 74076903 C T SNP ZACN ENST00000392503 human ensembl 70_37 +1 known missense c.305 p.S102L 0.000 NULL NULL - no_errors ZACN HGNC ENSG00000186919 17 14 45.16 34 0 0.00 ZACN 353174 genome.wustl.edu 37 17 74078000 74078000 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 74078000 74078000 C T SNP ZACN ENST00000334586 human ensembl 70_37 +1 known silent c.918 p.L306 0.234 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 38 17 30.91 64 0 0.00 ZACN 353174 genome.wustl.edu 37 17 74078118 74078118 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 74078118 74078118 C T SNP ZACN ENST00000334586 human ensembl 70_37 +1 known missense c.1036 p.H346Y 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 11 8 42.11 18 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174055646 174055646 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 174055646 174055646 T C SNP ZAK ENST00000375213 human ensembl 70_37 +1 known silent c.439 p.L147 0.727 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 41 6 12.77 55 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174074485 174074485 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 174074485 174074485 C G SNP ZAK ENST00000375213 human ensembl 70_37 +1 known nonsense c.773 p.S258* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 24 10 29.41 28 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174086208 174086208 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 174086208 174086208 G A SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1318 p.D440N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 19 6 24.00 24 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174086208 174086208 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 2 174086208 174086208 G A SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1318 p.D440N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 26 8 23.53 63 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174086238 174086238 + Missense_Mutation SNP G G T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 174086238 174086238 G T SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1348 p.D450Y 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 19 3 13.64 14 0 0.00 ZAK 51776 genome.wustl.edu 37 2 174123523 174123523 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 174123523 174123523 G A SNP ZAK ENST00000375213 human ensembl 70_37 +1 known missense c.1456 p.E486K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ENSG00000091436 66 16 19.51 68 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100331801 100331801 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 100331801 100331801 C G SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.10 p.P4A 0.696 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 32 20 38.46 42 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100344303 100344303 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 100344303 100344303 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.909 p.L303 0.001 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 25 18 41.86 61 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100348282 100348282 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100348282 100348282 C A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.1284 p.F428L 0.146 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 28 18 39.13 67 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100349807 100349807 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100349807 100349807 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.2079 p.T693 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 15 18 54.55 28 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100349807 100349807 + Silent SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 7 100349807 100349807 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.2079 p.T693 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 25 20 43.48 61 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100355923 100355923 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 100355923 100355923 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.3408 p.T1136 0.000 smart_VWC_out pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 20 15 42.86 45 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100355966 100355966 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 100355966 100355966 G T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.3451 p.A1151S 1.000 smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 44 5 10.20 37 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100361686 100361686 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 100361686 100361686 C G SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.4134 p.F1378L 0.944 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 29 5 14.71 51 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100364824 100364824 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 100364824 100364824 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.4804 p.V1602I 0.926 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 43 7 14.00 59 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100365528 100365528 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 100365528 100365528 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.4935 p.L1645 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 64 8 11.11 55 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100371474 100371474 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 7 100371474 100371474 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.5765 p.R1922H 0.705 smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 37 5 11.90 42 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100372997 100372997 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 100372997 100372997 G C SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.5824 p.D1942H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 17 3 15.00 19 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100389622 100389622 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 100389622 100389622 G T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known nonsense c.7561 p.E2521* 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 61 10 14.08 39 0 0.00 ZAN 7455 genome.wustl.edu 37 7 100391775 100391775 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 100391775 100391775 C G SNP ZAN ENST00000546213 human ensembl 70_37 +1 known missense c.3133 p.Q1045E 0.890 smart_VWC_out pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom - no_errors ZAN HGNC ENSG00000146839 35 10 22.22 33 0 0.00 ZAP70 7535 genome.wustl.edu 37 2 98340609 98340609 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 98340609 98340609 G T SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known missense c.110 p.R37L 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 28 19 40.43 42 0 0.00 ZAP70 7535 genome.wustl.edu 37 2 98351063 98351063 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98351063 98351063 G A SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 25 16 39.02 40 0 0.00 ZAP70 7535 genome.wustl.edu 37 2 98351725 98351725 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 98351725 98351725 C T SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known silent c.1095 p.D365 0.720 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 5 9 64.29 11 0 0.00 ZAR1 326340 genome.wustl.edu 37 4 48492817 48492817 + Missense_Mutation SNP C C T TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 4 48492817 48492817 C T SNP ZAR1 ENST00000327939 human ensembl 70_37 +1 known missense c.509 p.P170L 0.018 NULL superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ENSG00000182223 10 4 28.57 11 0 0.00 ZAR1 326340 genome.wustl.edu 37 4 48494963 48494963 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 48494963 48494963 C T SNP ZAR1 ENST00000327939 human ensembl 70_37 +1 known silent c.1065 p.F355 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ENSG00000182223 20 15 42.86 33 0 0.00 ZAR1L 646799 genome.wustl.edu 37 13 32885503 32885503 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 13 32885503 32885503 G A SNP ZAR1L ENST00000345108 human ensembl 70_37 -1 known missense c.560 p.S187L 0.000 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 16 20 54.05 48 0 0.00 ZAR1L 646799 genome.wustl.edu 37 13 32885681 32885681 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32885681 32885681 G T SNP ZAR1L ENST00000345108 human ensembl 70_37 -1 known missense c.382 p.P128T 0.000 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 14 5 26.32 32 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 166958617 166958617 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 166958617 166958617 T A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.2484 p.Q828H 0.995 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 27 17 38.64 37 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 166958669 166958669 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 166958669 166958669 G A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.2432 p.S811L 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 36 11 23.40 42 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167051682 167051682 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 167051682 167051682 G C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.620 p.S207C 0.001 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 158 29 15.51 75 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167051764 167051764 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 167051764 167051764 G C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.538 p.Q180E 0.999 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 57 8 12.31 29 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167068260 167068260 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 167068260 167068260 G T SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.476 p.A159D 1.000 pfam_Znf_B-box pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 24 3 11.11 65 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167086284 167086284 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 167086284 167086284 G A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known silent c.147 p.F49 0.523 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 38 17 30.36 50 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167090668 167090668 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 167090668 167090668 C T SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.22 p.V8I 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 58 27 31.76 68 0 0.00 ZBBX 79740 genome.wustl.edu 37 3 167090681 167090681 + Silent SNP T T C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 3 167090681 167090681 T C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known silent c.9 p.R3 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 147 30 16.95 118 0 0.00 ZBED1 9189 genome.wustl.edu 37 X 2408336 2408336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 2408336 2408336 G A SNP ZBED1 ENST00000381218 human ensembl 70_37 -1 known missense c.425 p.S142F 0.953 NULL pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 42 34 44.16 73 0 0.00 ZBED4 9889 genome.wustl.edu 37 22 50277648 50277648 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 50277648 50277648 G T SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.338 p.S113I 0.999 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 18 4 18.18 44 0 0.00 ZBED4 9889 genome.wustl.edu 37 22 50278464 50278464 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 50278464 50278464 C T SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.1154 p.S385L 0.170 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 52 26 33.33 52 0 0.00 ZBED4 9889 genome.wustl.edu 37 22 50278464 50278464 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 22 50278464 50278464 C T SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.1154 p.S385L 0.170 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 56 31 35.23 83 0 0.00 ZBED4 9889 genome.wustl.edu 37 22 50279300 50279300 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 50279300 50279300 G A SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.1990 p.E664K 1.000 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 1 14 93.33 42 0 0.00 ZBED5 58486 genome.wustl.edu 37 11 10875792 10875792 + Missense_Mutation SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 10875792 10875792 T C SNP ZBED5 ENST00000413761 human ensembl 70_37 -1 putative missense c.701 p.Y234C 0.997 NULL superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 30 4 11.76 30 0 0.00 ZBED5 58486 genome.wustl.edu 37 11 10876296 10876296 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10876296 10876296 C T SNP ZBED5 ENST00000413761 human ensembl 70_37 -1 putative missense c.197 p.G66E 1.000 NULL superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 46 24 34.29 29 0 0.00 ZBED6 100381270 genome.wustl.edu 37 1 203767786 203767786 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203767786 203767786 C G SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.1136 p.S379C 1.000 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ENSG00000257315 18 13 41.94 20 0 0.00 ZBED6 100381270 genome.wustl.edu 37 1 203768069 203768069 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 203768069 203768069 G C SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.1419 p.E473D 1.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ENSG00000257315 16 13 44.83 24 0 0.00 ZBED6 100381270 genome.wustl.edu 37 1 203769304 203769304 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 203769304 203769304 T C SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.2654 p.L885S 1.000 pfam_HATC,superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ENSG00000257315 27 14 34.15 51 0 0.00 ZBP1 81030 genome.wustl.edu 37 20 56191472 56191472 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 56191472 56191472 C T SNP ZBP1 ENST00000343535 human ensembl 70_37 -1 known silent c.87 p.V29 0.018 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 14 11 44.00 41 0 0.00 ZBTB1 22890 genome.wustl.edu 37 14 64989628 64989628 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 64989628 64989628 G A SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.1406 p.R469Q 0.760 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 27 10 27.03 28 0 0.00 ZBTB1 22890 genome.wustl.edu 37 14 64989698 64989698 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 64989698 64989698 G C SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.1476 p.E492D 0.990 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 26 11 29.73 53 0 0.00 ZBTB1 22890 genome.wustl.edu 37 14 64990313 64990313 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64990313 64990313 G C SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.2091 p.L697F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 14 8 36.36 31 0 0.00 ZBTB10 65986 genome.wustl.edu 37 8 81399682 81399682 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 81399682 81399682 G C SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 23 11 32.35 29 0 0.00 ZBTB10 65986 genome.wustl.edu 37 8 81399769 81399769 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 81399769 81399769 C G SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.724 p.L242V 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 26 6 18.75 41 0 0.00 ZBTB10 65986 genome.wustl.edu 37 8 81411855 81411855 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 8 81411855 81411855 A T SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.1099 p.S367C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 34 4 10.53 37 0 0.00 ZBTB10 65986 genome.wustl.edu 37 8 81412100 81412100 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 81412100 81412100 G T SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.1344 p.M448I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 23 3 11.54 36 0 0.00 ZBTB11 27107 genome.wustl.edu 37 3 101374961 101374961 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 101374961 101374961 C G SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known missense c.2178 p.M726I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 28 17 37.78 55 0 0.00 ZBTB11 27107 genome.wustl.edu 37 3 101383876 101383876 + Nonsense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 101383876 101383876 G A SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known nonsense c.1555 p.R519* 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 54 12 18.18 59 0 0.00 ZBTB11 27107 genome.wustl.edu 37 3 101384145 101384145 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 101384145 101384145 C G SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known missense c.1286 p.R429T 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 50 22 29.73 65 0 0.00 ZBTB11 27107 genome.wustl.edu 37 3 101390764 101390764 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 101390764 101390764 C G SNP ZBTB11 ENST00000461821 human ensembl 70_37 -1 putative missense c.604 p.A202P 0.000 NULL NULL - no_errors ZBTB11 HGNC ENSG00000066422 40 5 11.11 56 0 0.00 ZBTB12 221527 genome.wustl.edu 37 6 31868109 31868109 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 31868109 31868109 G A SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known missense c.974 p.S325L 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 28 19 40.43 39 0 0.00 ZBTB12 221527 genome.wustl.edu 37 6 31868724 31868724 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 31868724 31868724 C T SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known missense c.359 p.R120Q 0.273 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 38 25 39.68 54 0 0.00 ZBTB12 221527 genome.wustl.edu 37 6 31868750 31868750 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 31868750 31868750 C T SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known silent c.333 p.Q111 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 56 14 20.00 104 0 0.00 ZBTB16 7704 genome.wustl.edu 37 11 113934839 113934839 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 113934839 113934839 G A SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.817 p.E273K 0.999 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 20 15 42.86 38 0 0.00 ZBTB16 7704 genome.wustl.edu 37 11 113934923 113934923 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 11 113934923 113934923 G A SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.901 p.E301K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 17 4 19.05 46 0 0.00 ZBTB16 7704 genome.wustl.edu 37 11 113935017 113935017 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 113935017 113935017 G T SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.995 p.G332V 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 8 6 42.86 31 0 0.00 ZBTB16 7704 genome.wustl.edu 37 11 114113003 114113003 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 114113003 114113003 G C SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.1568 p.C523S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 6 16 72.73 27 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16268388 16268388 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16268388 16268388 C G SNP ZBTB17 ENST00000462525 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZBTB17 HGNC ENSG00000116809 37 8 17.78 58 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16268529 16268529 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16268529 16268529 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.2368 p.E790K 0.960 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 24 5 17.24 17 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16268666 16268666 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 16268666 16268666 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.2231 p.R744Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 36 4 10.00 56 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16269081 16269081 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269081 16269081 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1981 p.D661N 0.996 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 21 5 19.23 34 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16269105 16269105 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269105 16269105 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1957 p.E653K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 26 5 16.13 37 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16269117 16269117 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269117 16269117 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1945 p.E649K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 30 8 21.05 45 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16269231 16269231 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269231 16269231 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1831 p.E611Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 49 17 25.76 49 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16269299 16269299 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269299 16269299 C T SNP ZBTB17 ENST00000488008 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZBTB17 HGNC ENSG00000116809 19 7 26.92 16 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16270203 16270203 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16270203 16270203 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.1467 p.L489 0.950 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 40 13 24.53 40 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16270867 16270867 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16270867 16270867 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1299 p.K433N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 43 7 14.00 30 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16271564 16271564 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271564 16271564 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.795 p.E265 0.037 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 30 6 16.67 27 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16271600 16271600 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271600 16271600 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.759 p.E253 0.732 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 45 7 13.46 38 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16271638 16271638 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271638 16271638 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.721 p.E241Q 0.903 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 47 8 14.55 40 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16271698 16271698 + Splice_Site SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 16271698 16271698 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known splice_site c.662-1 e5-1 0.970 - - - no_errors ZBTB17 HGNC ENSG00000116809 67 8 10.67 48 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16272374 16272374 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16272374 16272374 C T SNP ZBTB17 ENST00000479282 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors ZBTB17 HGNC ENSG00000116809 37 5 11.90 49 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16272682 16272682 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 16272682 16272682 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.502 p.E168Q 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 50 34 40.48 68 0 0.00 ZBTB17 7709 genome.wustl.edu 37 1 16274987 16274987 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16274987 16274987 C A SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.4 p.D2Y 1.000 superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 21 6 22.22 18 0 0.00 ZBTB2 57621 genome.wustl.edu 37 6 151687599 151687599 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 151687599 151687599 G A SNP ZBTB2 ENST00000325144 human ensembl 70_37 -1 known missense c.602 p.S201L 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 19 9 32.14 33 0 0.00 ZBTB2 57621 genome.wustl.edu 37 6 151687696 151687696 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 6 151687696 151687696 C T SNP ZBTB2 ENST00000325144 human ensembl 70_37 -1 known missense c.505 p.E169K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 28 16 36.36 82 0 0.00 ZBTB20 26137 genome.wustl.edu 37 3 114057933 114057933 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 114057933 114057933 G A SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known silent c.2145 p.Y715 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 70 19 21.35 48 0 0.00 ZBTB20 26137 genome.wustl.edu 37 3 114069161 114069161 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 114069161 114069161 G A SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known silent c.1764 p.T588 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 120 39 24.53 83 0 0.00 ZBTB20 26137 genome.wustl.edu 37 3 114069347 114069347 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 114069347 114069347 G C SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known missense c.1578 p.F526L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 85 28 24.78 57 0 0.00 ZBTB22 9278 genome.wustl.edu 37 6 33283917 33283917 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 33283917 33283917 C T SNP ZBTB22 ENST00000418724 human ensembl 70_37 -1 known silent c.777 p.L259 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 21 3 12.50 16 0 0.00 ZBTB22 9278 genome.wustl.edu 37 6 33284082 33284082 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 33284082 33284082 G A SNP ZBTB22 ENST00000418724 human ensembl 70_37 -1 known silent c.612 p.S204 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 23 12 34.29 14 0 0.00 ZBTB24 9841 genome.wustl.edu 37 6 109787778 109787778 + Splice_Site SNP C C T TCGA-DG-A2KJ-01A-11D-A18J-09 TCGA-DG-A2KJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8be2b0f5-7bad-4720-b13c-e95b32bdb933 8741af22-0355-4085-9c09-abee617690d0 6 109787778 109787778 C T SNP ZBTB24 ENST00000230122 human ensembl 70_37 -1 known splice_site c.1371-1 e6-1 1.000 - - - no_errors ZBTB24 HGNC ENSG00000112365 59 7 10.61 23 0 0.00 ZBTB3 79842 genome.wustl.edu 37 11 62519844 62519844 + Silent SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 11 62519844 62519844 G A SNP ZBTB3 ENST00000394807 human ensembl 70_37 -1 known silent c.1443 p.F481 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 34 19 35.85 50 0 0.00 ZBTB3 79842 genome.wustl.edu 37 11 62520586 62520586 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62520586 62520586 G A SNP ZBTB3 ENST00000394807 human ensembl 70_37 -1 known missense c.701 p.P234L 0.145 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 27 20 42.55 40 0 0.00 ZBTB33 10009 genome.wustl.edu 37 X 119388668 119388668 + Silent SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 119388668 119388668 G T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known silent c.1398 p.T466 0.008 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 28 14 33.33 37 0 0.00 ZBTB33 10009 genome.wustl.edu 37 X 119388904 119388904 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 119388904 119388904 C T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known missense c.1634 p.T545I 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 71 10 12.35 49 0 0.00 ZBTB33 10009 genome.wustl.edu 37 X 119388943 119388943 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 119388943 119388943 C T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known missense c.1673 p.S558F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 79 14 15.05 54 0 0.00 ZBTB34 403341 genome.wustl.edu 37 9 129642988 129642988 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 129642988 129642988 G T SNP ZBTB34 ENST00000319119 human ensembl 70_37 +1 known missense c.1310 p.C437F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 22 4 15.38 27 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173839612 173839612 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 173839612 173839612 C G SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known silent c.249 p.L83 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 25 8 24.24 28 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173839814 173839814 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 173839814 173839814 G A SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 21 7 25.00 14 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173840150 173840150 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 173840150 173840150 G C SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.787 p.E263Q 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 26 16 37.21 64 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173840188 173840188 + Silent SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 173840188 173840188 G T SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known silent c.825 p.V275 0.998 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 38 24 38.71 58 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173842618 173842618 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 173842618 173842618 G A SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.937 p.G313S 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 47 7 12.96 61 0 0.00 ZBTB37 84614 genome.wustl.edu 37 1 173854952 173854952 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173854952 173854952 T C SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.1202 p.F401S 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 24 10 29.41 20 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141161572 141161572 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 141161572 141161572 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known silent c.345 p.L115 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 32 27 45.76 51 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 141161785 141161785 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.558 p.L186F 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 30 5 14.29 16 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141161907 141161907 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 141161907 141161907 C G SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.680 p.S227C 0.725 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 15 7 31.82 22 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141162301 141162301 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 141162301 141162301 C G SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known silent c.1074 p.L358 0.783 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 15 3 16.67 30 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141162660 141162660 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141162660 141162660 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1433 p.R478T 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 76 75 49.67 91 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141162767 141162767 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141162767 141162767 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1540 p.E514K 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 117 93 44.29 137 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141162891 141162891 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 141162891 141162891 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1664 p.G555E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 65 20 23.53 78 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141164162 141164162 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141164162 141164162 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.2935 p.E979Q 0.109 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 39 32 45.07 49 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141164487 141164487 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 141164487 141164487 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.3260 p.R1087T 0.434 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 41 7 14.58 30 0 0.00 ZBTB38 253461 genome.wustl.edu 37 3 141164491 141164491 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 141164491 141164491 C T SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known silent c.3264 p.I1088 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 20 15 42.86 15 0 0.00 ZBTB39 9880 genome.wustl.edu 37 12 57397132 57397132 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57397132 57397132 C G SNP ZBTB39 ENST00000300101 human ensembl 70_37 -1 known missense c.1570 p.E524Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 39 10 20.41 47 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7365529 7365529 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7365529 7365529 G A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2772 p.L924 0.434 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 22 14 38.89 50 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7365772 7365772 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 17 7365772 7365772 C A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.2529 p.E843D 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 21 4 16.00 49 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7365840 7365840 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 7365840 7365840 C G SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.2461 p.E821Q 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 39 38 49.35 43 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7366072 7366072 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7366072 7366072 C T SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2229 p.K743 0.987 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 3 5 62.50 12 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7366075 7366075 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7366075 7366075 C A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2226 p.R742 0.103 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 3 4 57.14 12 0 0.00 ZBTB4 57659 genome.wustl.edu 37 17 7369795 7369795 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7369795 7369795 G C SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.326 p.S109C 0.995 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 11 6 35.29 16 0 0.00 ZBTB40 9923 genome.wustl.edu 37 1 22817950 22817950 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22817950 22817950 C G SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known nonsense c.755 p.S252* 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 24 9 27.27 29 0 0.00 ZBTB40 9923 genome.wustl.edu 37 1 22817988 22817988 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 22817988 22817988 C G SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.793 p.L265V 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 25 15 37.50 34 0 0.00 ZBTB40 9923 genome.wustl.edu 37 1 22835630 22835630 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22835630 22835630 G C SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known silent c.1737 p.L579 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 30 13 30.23 29 0 0.00 ZBTB40 9923 genome.wustl.edu 37 1 22848902 22848902 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 22848902 22848902 G C SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.3244 p.E1082Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 18 27 60.00 59 0 0.00 ZBTB40 9923 genome.wustl.edu 37 1 22850819 22850819 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 22850819 22850819 C T SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.3407 p.P1136L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 4 27 87.10 30 0 0.00 ZBTB41 360023 genome.wustl.edu 37 1 197128511 197128511 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 197128511 197128511 G C SNP ZBTB41 ENST00000367405 human ensembl 70_37 -1 known missense c.2708 p.S903C 0.958 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 69 20 22.47 56 0 0.00 ZBTB41 360023 genome.wustl.edu 37 1 197128956 197128956 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 197128956 197128956 G A SNP ZBTB41 ENST00000367405 human ensembl 70_37 -1 known missense c.2263 p.P755S 0.082 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 79 41 34.17 100 1 0.99 ZBTB41 360023 genome.wustl.edu 37 1 197169636 197169636 + RNA SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 197169636 197169636 A G SNP ZBTB41 ENST00000467322 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZBTB41 HGNC ENSG00000177888 21 9 30.00 22 0 0.00 ZBTB42 100128927 genome.wustl.edu 37 14 105268691 105268691 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 105268691 105268691 G A SNP ZBTB42 ENST00000342537 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.995 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB42 HGNC ENSG00000179627 38 22 36.67 49 0 0.00 ZBTB43 23099 genome.wustl.edu 37 9 129595499 129595499 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 129595499 129595499 C T SNP ZBTB43 ENST00000373457 human ensembl 70_37 +1 known silent c.711 p.I237 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 26 6 18.75 46 0 0.00 ZBTB44 29068 genome.wustl.edu 37 11 130103259 130103259 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 130103259 130103259 C A SNP ZBTB44 ENST00000357899 human ensembl 70_37 -1 known nonsense c.1705 p.E569* 0.142 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 65 18 21.69 70 0 0.00 ZBTB44 29068 genome.wustl.edu 37 11 130104128 130104128 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 130104128 130104128 C G SNP ZBTB44 ENST00000357899 human ensembl 70_37 -1 known missense c.1609 p.E537Q 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 37 29 43.94 48 0 0.00 ZBTB45 84878 genome.wustl.edu 37 19 59025616 59025616 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 59025616 59025616 G C SNP ZBTB45 ENST00000354590 human ensembl 70_37 -1 known silent c.1341 p.L447 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 7 13 65.00 24 0 0.00 ZBTB45 84878 genome.wustl.edu 37 19 59027764 59027764 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 59027764 59027764 G A SNP ZBTB45 ENST00000354590 human ensembl 70_37 -1 known missense c.1277 p.S426L 0.994 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 75 39 34.21 144 0 0.00 ZBTB46 140685 genome.wustl.edu 37 20 62378450 62378450 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 62378450 62378450 G C SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known missense c.1603 p.L535V 0.986 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 25 9 26.47 18 0 0.00 ZBTB46 140685 genome.wustl.edu 37 20 62421190 62421190 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 62421190 62421190 G A SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known silent c.921 p.F307 0.999 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 20 23 53.49 35 0 0.00 ZBTB46 140685 genome.wustl.edu 37 20 62421495 62421495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 62421495 62421495 C T SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known missense c.616 p.D206N 0.376 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 54 6 10.00 57 0 0.00 ZBTB47 92999 genome.wustl.edu 37 3 42700448 42700448 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 42700448 42700448 G A SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.601 p.G201S 0.004 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 36 30 45.45 63 0 0.00 ZBTB47 92999 genome.wustl.edu 37 3 42700652 42700652 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 42700652 42700652 G A SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.805 p.E269K 0.973 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 19 10 34.48 37 0 0.00 ZBTB47 92999 genome.wustl.edu 37 3 42700666 42700666 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 42700666 42700666 G C SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.819 p.Q273H 0.863 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 5 6 54.55 18 0 0.00 ZBTB47 92999 genome.wustl.edu 37 3 42700892 42700892 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 42700892 42700892 G T SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known nonsense c.1045 p.E349* 0.991 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 25 21 45.65 34 0 0.00 ZBTB47 92999 genome.wustl.edu 37 3 42701164 42701164 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 42701164 42701164 G C SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.1317 p.Q439H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 16 18 52.94 63 0 0.00 ZBTB49 166793 genome.wustl.edu 37 4 4322678 4322678 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 4 4322678 4322678 G A SNP ZBTB49 ENST00000337872 human ensembl 70_37 +1 known missense c.1933 p.D645N 0.040 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 9 10 52.63 28 0 0.00 ZBTB5 9925 genome.wustl.edu 37 9 37441722 37441722 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 37441722 37441722 G A SNP ZBTB5 ENST00000307750 human ensembl 70_37 -1 known missense c.827 p.S276F 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 16 6 27.27 36 0 0.00 ZBTB6 10773 genome.wustl.edu 37 9 125673272 125673272 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 125673272 125673272 C T SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known silent c.1080 p.L360 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 61 28 31.46 94 0 0.00 ZBTB6 10773 genome.wustl.edu 37 9 125673338 125673338 + Missense_Mutation SNP C C A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 125673338 125673338 C A SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.1014 p.K338N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 57 8 12.31 65 0 0.00 ZBTB6 10773 genome.wustl.edu 37 9 125673645 125673645 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 125673645 125673645 G A SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.707 p.S236L 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 25 10 28.57 34 0 0.00 ZBTB6 10773 genome.wustl.edu 37 9 125673859 125673859 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 125673859 125673859 C T SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 45 11 19.64 22 0 0.00 ZBTB7A 51341 genome.wustl.edu 37 19 4054349 4054349 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 4054349 4054349 C A SNP ZBTB7A ENST00000322357 human ensembl 70_37 -1 known silent c.882 p.P294 0.697 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 20 4 16.67 28 0 0.00 ZBTB7A 51341 genome.wustl.edu 37 19 4054708 4054709 + Frame_Shift_Ins INS - - G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 4054708 4054709 - G INS ZBTB7A ENST00000322357 human ensembl 70_37 -1 known frame_shift_ins c.523_522 p.A174fs 0.522:0.571 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 74 70 48.61 223 0 0.00 ZBTB7A 51341 genome.wustl.edu 37 19 4054919 4054919 + Silent SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 4054919 4054919 C A SNP ZBTB7A ENST00000322357 human ensembl 70_37 -1 known silent c.312 p.V104 0.789 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 47 6 11.32 45 0 0.00 ZBTB7B 51043 genome.wustl.edu 37 1 154975263 154975263 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154975263 154975263 G A SNP ZBTB7B ENST00000487542 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZBTB7B HGNC ENSG00000160685 10 7 41.18 16 0 0.00 ZBTB7B 51043 genome.wustl.edu 37 1 154987929 154987929 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154987929 154987929 G A SNP ZBTB7B ENST00000417934 human ensembl 70_37 +1 known missense c.895 p.E299K 0.968 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 5 5 50.00 9 0 0.00 ZBTB7C 201501 genome.wustl.edu 37 18 45555962 45555962 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 18 45555962 45555962 G A SNP ZBTB7C ENST00000332053 human ensembl 70_37 -1 known missense c.1529 p.A510V 0.340 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 20 22 52.38 30 0 0.00 ZBTB7C 201501 genome.wustl.edu 37 18 45567016 45567016 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 45567016 45567016 C T SNP ZBTB7C ENST00000332053 human ensembl 70_37 -1 known missense c.463 p.E155K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 65 42 39.25 100 0 0.00 ZBTB8A 653121 genome.wustl.edu 37 1 33058778 33058778 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 33058778 33058778 C T SNP ZBTB8A ENST00000373510 human ensembl 70_37 +1 known silent c.246 p.F82 0.904 pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 148 81 35.22 267 0 0.00 ZC2HC1A 51101 genome.wustl.edu 37 8 79598747 79598747 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 79598747 79598747 G A SNP ZC2HC1A ENST00000263849 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 25 21 45.65 17 0 0.00 ZC2HC1A 51101 genome.wustl.edu 37 8 79598747 79598747 + Missense_Mutation SNP G G A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 8 79598747 79598747 G A SNP ZC2HC1A ENST00000263849 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 7 8 53.33 23 0 0.00 ZC3H10 84872 genome.wustl.edu 37 12 56512080 56512080 + RNA SNP A A G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 12 56512080 56512080 A G SNP ZC3H10 ENST00000549973 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H10 HGNC ENSG00000135482 15 18 54.55 40 0 0.00 ZC3H10 84872 genome.wustl.edu 37 12 56515629 56515629 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 12 56515629 56515629 G A SNP ZC3H10 ENST00000257940 human ensembl 70_37 +1 known missense c.1283 p.R428H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 40 13 24.53 69 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203765597 203765597 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 203765597 203765597 G A SNP ZC3H11A ENST00000466470 human ensembl 70_37 +1 known rna NULL NULL 0.947 - - - no_errors ZC3H11A HGNC ENSG00000058673 64 19 22.89 57 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203770893 203770893 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 203770893 203770893 C G SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H11A HGNC ENSG00000058673 112 20 15.15 98 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203770989 203770989 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203770989 203770989 G A SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors ZC3H11A HGNC ENSG00000058673 36 17 32.08 57 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203771246 203771246 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 203771246 203771246 C G SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H11A HGNC ENSG00000058673 24 8 25.00 33 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203771389 203771389 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 203771389 203771389 C T SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZC3H11A HGNC ENSG00000058673 58 19 24.68 68 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203797541 203797541 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 203797541 203797541 C G SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.289 p.P97A 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 34 7 17.07 43 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203798606 203798606 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 203798606 203798606 C T SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.326 p.P109L 0.995 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 42 48 52.75 66 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203819566 203819566 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203819566 203819566 G C SNP ZC3H11A ENST00000488411 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZC3H11A HGNC ENSG00000058673 28 7 20.00 27 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203821344 203821344 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 203821344 203821344 G A SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.2250 p.M750I 0.003 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 119 46 27.88 139 0 0.00 ZC3H11A 9877 genome.wustl.edu 37 1 203821436 203821436 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 203821436 203821436 C T SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.2342 p.S781L 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 64 11 14.67 34 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37941279 37941279 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 37941279 37941279 C A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known nonsense c.182 p.S61* 0.999 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 16 15 48.39 33 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37941335 37941335 + Missense_Mutation SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 37941335 37941335 A G SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.238 p.T80A 0.984 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 13 10 43.48 23 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37945919 37945919 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 37945919 37945919 C A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known silent c.472 p.R158 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 31 30 48.39 41 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37946015 37946015 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 37946015 37946015 G A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.568 p.D190N 0.999 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 93 27 22.50 92 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37947261 37947261 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 37947261 37947261 C T SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.643 p.R215C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 53 8 13.11 92 0 0.00 ZC3H12A 80149 genome.wustl.edu 37 1 37948736 37948736 + Missense_Mutation SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 37948736 37948736 T C SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.1324 p.S442P 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 23 24 51.06 40 0 0.00 ZC3H12B 340554 genome.wustl.edu 37 X 64709107 64709107 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db X 64709107 64709107 G T SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.426 p.L142F 0.997 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 33 12 26.67 41 0 0.00 ZC3H12B 340554 genome.wustl.edu 37 X 64717050 64717050 + Missense_Mutation SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 64717050 64717050 A G SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.647 p.Q216R 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 25 34 57.63 49 0 0.00 ZC3H12B 340554 genome.wustl.edu 37 X 64717050 64717050 + Missense_Mutation SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 X 64717050 64717050 A G SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.647 p.Q216R 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 31 31 50.00 46 0 0.00 ZC3H12B 340554 genome.wustl.edu 37 X 64722153 64722153 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 64722153 64722153 G A SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known silent c.1575 p.G525 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 29 16 35.56 45 0 0.00 ZC3H12B 340554 genome.wustl.edu 37 X 64722635 64722635 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 64722635 64722635 C T SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.2057 p.P686L 0.569 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 39 9 18.75 33 0 0.00 ZC3H12C 85463 genome.wustl.edu 37 11 110008101 110008101 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 110008101 110008101 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known silent c.735 p.L245 0.990 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 7 37 84.09 38 0 0.00 ZC3H12C 85463 genome.wustl.edu 37 11 110030027 110030027 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 110030027 110030027 C T SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known silent c.960 p.F320 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 43 12 21.82 40 0 0.00 ZC3H12C 85463 genome.wustl.edu 37 11 110030151 110030151 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 110030151 110030151 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.1084 p.E362Q 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 15 8 34.78 50 0 0.00 ZC3H12C 85463 genome.wustl.edu 37 11 110035239 110035239 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 110035239 110035239 G A SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.1429 p.D477N 0.995 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 35 18 33.96 39 0 0.00 ZC3H12C 85463 genome.wustl.edu 37 11 110036067 110036067 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 110036067 110036067 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.2257 p.D753H 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 13 9 40.91 34 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46531324 46531324 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 13 46531324 46531324 C G SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.4945 p.E1649Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 25 18 41.86 40 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46539507 46539507 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 46539507 46539507 C T SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.4379 p.G1460E 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 60 11 15.49 92 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46543770 46543770 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 46543770 46543770 T G SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2909 p.K970T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 54 43 44.33 78 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46549669 46549669 + Missense_Mutation SNP T T A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 13 46549669 46549669 T A SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2217 p.R739S 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 94 12 11.21 122 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46549845 46549845 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 13 46549845 46549845 G C SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2041 p.R681G 0.987 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 213 72 25.26 150 0 0.00 ZC3H13 23091 genome.wustl.edu 37 13 46594685 46594685 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 46594685 46594685 G A SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.347 p.S116F 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 46 14 23.33 92 0 0.00 ZC3H14 79882 genome.wustl.edu 37 14 89039025 89039025 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 89039025 89039025 G A SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.535 p.D179N 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 138 66 32.35 253 0 0.00 ZC3H14 79882 genome.wustl.edu 37 14 89039043 89039043 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 89039043 89039043 G A SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.553 p.D185N 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 169 68 28.69 290 0 0.00 ZC3H14 79882 genome.wustl.edu 37 14 89075708 89075708 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 89075708 89075708 C T SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.1966 p.H656Y 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 72 12 14.29 56 0 0.00 ZC3H15 55854 genome.wustl.edu 37 2 187351166 187351166 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 187351166 187351166 G C SNP ZC3H15 ENST00000337859 human ensembl 70_37 +1 known missense c.57 p.K19N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 24 10 29.41 23 0 0.00 ZC3H15 55854 genome.wustl.edu 37 2 187373329 187373329 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 187373329 187373329 G T SNP ZC3H15 ENST00000337859 human ensembl 70_37 +1 known nonsense c.1150 p.E384* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 36 4 10.00 35 0 0.00 ZC3H18 124245 genome.wustl.edu 37 16 88666221 88666221 + Missense_Mutation SNP G G A TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 16 88666221 88666221 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.953 p.R318Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 62 37 36.63 96 0 0.00 ZC3H18 124245 genome.wustl.edu 37 16 88666329 88666329 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 88666329 88666329 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.1061 p.R354Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 28 42 60.00 47 0 0.00 ZC3H18 124245 genome.wustl.edu 37 16 88694028 88694028 + Splice_Site SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88694028 88694028 A T SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known splice_site c.2109-2 e13-2 1.000 - - - no_errors ZC3H18 HGNC ENSG00000158545 24 7 21.88 24 0 0.00 ZC3H18 124245 genome.wustl.edu 37 16 88694357 88694357 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88694357 88694357 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.2299 p.E767K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 22 11 33.33 27 0 0.00 ZC3H18 124245 genome.wustl.edu 37 16 88697525 88697525 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88697525 88697525 C T SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.2680 p.P894S 0.999 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 14 5 26.32 21 0 0.00 ZC3H3 23144 genome.wustl.edu 37 8 144520231 144520231 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144520231 144520231 G T SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.2842 p.L948M 0.948 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 29 21 42.00 73 0 0.00 ZC3H3 23144 genome.wustl.edu 37 8 144557574 144557574 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 8 144557574 144557574 G A SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.1897 p.R633C 0.144 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 67 19 22.09 73 0 0.00 ZC3H3 23144 genome.wustl.edu 37 8 144623587 144623587 + Missense_Mutation SNP T T A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144623587 144623587 T A SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.5 p.E2V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 6 5 45.45 9 0 0.00 ZC3H4 23211 genome.wustl.edu 37 19 47568444 47568444 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47568444 47568444 C T SNP ZC3H4 ENST00000594019 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC3H4 HGNC ENSG00000130749 13 7 35.00 8 0 0.00 ZC3H4 23211 genome.wustl.edu 37 19 47593402 47593402 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47593402 47593402 C G SNP ZC3H4 ENST00000253048 human ensembl 70_37 -1 known missense c.537 p.K179N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 121 52 30.06 123 0 0.00 ZC3H4 23211 genome.wustl.edu 37 19 47597687 47597687 + Nonsense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 19 47597687 47597687 C A SNP ZC3H4 ENST00000253048 human ensembl 70_37 -1 known nonsense c.340 p.E114* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 55 9 14.06 83 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113057460 113057460 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057460 113057460 G A SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.67 p.D23N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 9 5 35.71 37 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113057490 113057490 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057490 113057490 G T SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known nonsense c.97 p.E33* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 7 5 41.67 41 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113057542 113057542 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057542 113057542 G T SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.149 p.R50I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 14 8 36.36 43 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113067694 113067694 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 2 113067694 113067694 C G SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.569 p.S190C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 26 5 16.13 21 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113079381 113079381 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 113079381 113079381 G C SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.1025 p.G342A 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 24 13 35.14 49 0 0.00 ZC3H6 376940 genome.wustl.edu 37 2 113089379 113089379 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 113089379 113089379 G A SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.2884 p.D962N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 10 10 50.00 14 0 0.00 ZC3H7A 29066 genome.wustl.edu 37 16 11858943 11858943 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 11858943 11858943 G A SNP ZC3H7A ENST00000355758 human ensembl 70_37 -1 known missense c.1786 p.H596Y 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 43 22 33.85 54 0 0.00 ZC3H7A 29066 genome.wustl.edu 37 16 11859530 11859530 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 11859530 11859530 C G SNP ZC3H7A ENST00000355758 human ensembl 70_37 -1 known missense c.1534 p.E512Q 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 14 21 60.00 34 0 0.00 ZC3H7B 23264 genome.wustl.edu 37 22 41716682 41716682 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 41716682 41716682 G A SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known silent c.18 p.R6 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 29 9 23.68 54 0 0.00 ZC3H7B 23264 genome.wustl.edu 37 22 41745257 41745257 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 41745257 41745257 G T SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known missense c.1900 p.A634S 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 52 65 55.56 88 0 0.00 ZC3H7B 23264 genome.wustl.edu 37 22 41752398 41752398 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 41752398 41752398 G A SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known missense c.2435 p.G812E 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 24 16 40.00 31 0 0.00 ZC3H8 84524 genome.wustl.edu 37 2 112995977 112995977 + Silent SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 112995977 112995977 T C SNP ZC3H8 ENST00000272570 human ensembl 70_37 -1 known silent c.285 p.Q95 0.524 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 155 36 18.85 279 0 0.00 ZC3H8 84524 genome.wustl.edu 37 2 113012538 113012538 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113012538 113012538 G T SNP ZC3H8 ENST00000272570 human ensembl 70_37 -1 known missense c.21 p.F7L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 45 21 31.82 67 0 0.00 ZC3HAV1 56829 genome.wustl.edu 37 7 138745836 138745836 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 138745836 138745836 C T SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.2042 p.R681K 0.868 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 64 38 37.25 80 0 0.00 ZC3HAV1 56829 genome.wustl.edu 37 7 138758630 138758630 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138758630 138758630 G A SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.1844 p.S615F 0.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 115 33 22.30 166 0 0.00 ZC3HAV1 56829 genome.wustl.edu 37 7 138764300 138764300 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138764300 138764300 G C SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.1387 p.Q463E 0.001 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 116 35 23.18 151 0 0.00 ZC3HC1 51530 genome.wustl.edu 37 7 129688889 129688889 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 129688889 129688889 C G SNP ZC3HC1 ENST00000358303 human ensembl 70_37 -1 known missense c.242 p.R81T 1.000 pfam_Znf_C3HC-like pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 25 24 48.98 48 0 0.00 ZC4H2 55906 genome.wustl.edu 37 X 64136735 64136735 + RNA SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 64136735 64136735 A C SNP ZC4H2 ENST00000488608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC4H2 HGNC ENSG00000126970 10 6 37.50 16 0 0.00 ZC4H2 55906 genome.wustl.edu 37 X 64136882 64136882 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 64136882 64136882 G A SNP ZC4H2 ENST00000488608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC4H2 HGNC ENSG00000126970 20 10 32.26 44 0 0.00 ZC4H2 55906 genome.wustl.edu 37 X 64141715 64141715 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 64141715 64141715 G A SNP ZC4H2 ENST00000374839 human ensembl 70_37 -1 known silent c.207 p.I69 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 53 13 19.70 73 0 0.00 ZCCHC11 23318 genome.wustl.edu 37 1 52891171 52891171 + Missense_Mutation SNP A A C TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 1 52891171 52891171 A C SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known missense c.4720 p.F1574V 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 17 10 37.04 26 0 0.00 ZCCHC11 23318 genome.wustl.edu 37 1 52926861 52926861 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 52926861 52926861 G T SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known missense c.3266 p.A1089E 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 36 4 10.00 21 0 0.00 ZCCHC11 23318 genome.wustl.edu 37 1 52926879 52926879 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 52926879 52926879 C G SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known missense c.3248 p.R1083T 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 43 11 20.37 29 0 0.00 ZCCHC12 170261 genome.wustl.edu 37 X 117959558 117959558 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 117959558 117959558 G A SNP ZCCHC12 ENST00000310164 human ensembl 70_37 +1 known missense c.351 p.M117I 0.990 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 8 8 50.00 30 0 0.00 ZCCHC12 170261 genome.wustl.edu 37 X 117959931 117959931 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 117959931 117959931 G A SNP ZCCHC12 ENST00000310164 human ensembl 70_37 +1 known missense c.724 p.A242T 0.972 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 32 4 11.11 71 0 0.00 ZCCHC13 389874 genome.wustl.edu 37 X 73524431 73524431 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73524431 73524431 G C SNP ZCCHC13 ENST00000339534 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 36 5 12.20 30 0 0.00 ZCCHC13 389874 genome.wustl.edu 37 X 73524601 73524601 + Nonstop_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 73524601 73524601 G T SNP ZCCHC13 ENST00000339534 human ensembl 70_37 +1 known nonstop c.500 p.*167L 0.994 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 29 14 32.56 52 0 0.00 ZCCHC16 340595 genome.wustl.edu 37 X 111698092 111698092 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 111698092 111698092 G T SNP ZCCHC16 ENST00000340433 human ensembl 70_37 +1 known missense c.136 p.A46S 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 27 38 58.46 35 0 0.00 ZCCHC17 51538 genome.wustl.edu 37 1 31821808 31821808 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 31821808 31821808 G C SNP ZCCHC17 ENST00000422613 human ensembl 70_37 +1 known missense c.557 p.R186T 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ENSG00000121766 24 14 36.84 30 0 0.00 ZCCHC17 51538 genome.wustl.edu 37 1 31836882 31836882 + Nonsense_Mutation SNP A A T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 31836882 31836882 A T SNP ZCCHC17 ENST00000422613 human ensembl 70_37 +1 known nonsense c.574 p.K192* 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ENSG00000121766 8 3 27.27 14 0 0.00 ZCCHC18 644353 genome.wustl.edu 37 X 103359951 103359951 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 103359951 103359951 A C SNP ZCCHC18 ENST00000422784 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZCCHC18 HGNC ENSG00000166707 20 10 33.33 50 0 0.00 ZCCHC2 54877 genome.wustl.edu 37 18 60190786 60190787 + In_Frame_Ins INS - - CCG TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 60190786 60190787 - CCG INS ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known in_frame_ins c.129_130 p.47in_frame_insP 0.978:0.996 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 9 5 35.71 9 0 0.00 ZCCHC2 54877 genome.wustl.edu 37 18 60191315 60191315 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 60191315 60191315 G A SNP ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known missense c.658 p.E220K 0.986 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 32 14 30.43 35 0 0.00 ZCCHC2 54877 genome.wustl.edu 37 18 60237357 60237357 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 60237357 60237357 C G SNP ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known missense c.1868 p.S623C 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 19 9 32.14 29 0 0.00 ZCCHC5 203430 genome.wustl.edu 37 X 77912937 77912937 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 77912937 77912937 C T SNP ZCCHC5 ENST00000321110 human ensembl 70_37 -1 known silent c.981 p.Q327 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 49 15 23.44 60 0 0.00 ZCCHC5 203430 genome.wustl.edu 37 X 77913090 77913090 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 77913090 77913090 C T SNP ZCCHC5 ENST00000321110 human ensembl 70_37 -1 known silent c.828 p.V276 0.618 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 19 4 17.39 24 0 0.00 ZCCHC6 79670 genome.wustl.edu 37 9 88916323 88916323 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 88916323 88916323 C T SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.4288 p.E1430K 1.000 superfamily_Znf_CCHC pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 36 25 40.98 48 0 0.00 ZCCHC6 79670 genome.wustl.edu 37 9 88916443 88916443 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 88916443 88916443 C G SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.4168 p.E1390Q 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 88 45 33.83 124 0 0.00 ZCCHC6 79670 genome.wustl.edu 37 9 88934520 88934520 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 88934520 88934520 A C SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.3094 p.F1032V 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 34 4 10.53 46 0 0.00 ZCCHC6 79670 genome.wustl.edu 37 9 88960659 88960659 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 88960659 88960659 G A SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known silent c.744 p.L248 0.987 smart_Znf_U1 pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 16 10 38.46 62 0 0.00 ZCCHC6 79670 genome.wustl.edu 37 9 88967805 88967805 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 88967805 88967805 C G SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.310 p.D104H 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 30 12 28.57 64 0 0.00 ZCCHC7 84186 genome.wustl.edu 37 9 37120659 37120659 + RNA SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 9 37120659 37120659 C T SNP ZCCHC7 ENST00000461038 human ensembl 70_37 +1 known rna NULL NULL 0.123 - - - no_errors ZCCHC7 HGNC ENSG00000147905 34 12 26.09 32 0 0.00 ZCCHC8 55596 genome.wustl.edu 37 12 122958743 122958743 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122958743 122958743 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known silent c.1425 p.L475 0.198 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 19 4 17.39 15 0 0.00 ZCCHC8 55596 genome.wustl.edu 37 12 122958781 122958781 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122958781 122958781 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.1387 p.Q463E 0.997 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 11 3 21.43 12 0 0.00 ZCCHC8 55596 genome.wustl.edu 37 12 122962766 122962766 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 12 122962766 122962766 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.1214 p.S405C 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 56 13 18.84 58 0 0.00 ZCCHC8 55596 genome.wustl.edu 37 12 122967242 122967242 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 122967242 122967242 C A SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.672 p.R224S 1.000 superfamily_Znf_CCHC pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 13 9 40.91 43 0 0.00 ZCCHC8 55596 genome.wustl.edu 37 12 122968017 122968017 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 122968017 122968017 C T SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.595 p.E199K 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 26 24 48.00 64 0 0.00 ZCWPW1 55063 genome.wustl.edu 37 7 100001352 100001352 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100001352 100001352 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1375 p.E459K 0.000 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 34 7 17.07 30 0 0.00 ZCWPW1 55063 genome.wustl.edu 37 7 100001358 100001358 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100001358 100001358 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1369 p.E457K 0.003 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 38 7 15.56 31 0 0.00 ZCWPW1 55063 genome.wustl.edu 37 7 100002656 100002656 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100002656 100002656 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1231 p.A411T 0.981 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 48 18 27.27 43 0 0.00 ZCWPW1 55063 genome.wustl.edu 37 7 100004362 100004362 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 100004362 100004362 G T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1125 p.N375K 1.000 pfam_PWWP,smart_PWWP,pfscan_PWWP pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 16 3 15.79 29 0 0.00 ZCWPW1 55063 genome.wustl.edu 37 7 100014776 100014776 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 7 100014776 100014776 G A SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.392 p.T131I 0.750 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 65 9 12.16 111 0 0.00 ZCWPW2 152098 genome.wustl.edu 37 3 28454782 28454782 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 28454782 28454782 G A SNP ZCWPW2 ENST00000383768 human ensembl 70_37 +1 known missense c.223 p.E75K 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 23 18 43.90 48 0 0.00 ZCWPW2 152098 genome.wustl.edu 37 3 28476698 28476698 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 3 28476698 28476698 G A SNP ZCWPW2 ENST00000383768 human ensembl 70_37 +1 known missense c.430 p.D144N 0.927 pfam_PWWP,pfscan_PWWP pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 32 6 15.79 55 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207169840 207169840 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 207169840 207169840 C T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known silent c.588 p.N196 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 49 16 24.62 53 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207170423 207170423 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 207170423 207170423 G A SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.1171 p.E391K 0.067 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 17 8 32.00 16 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207170956 207170956 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 207170956 207170956 C T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known silent c.1704 p.T568 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 47 28 36.36 73 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207171629 207171629 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 207171629 207171629 G C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.2377 p.D793H 0.999 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 57 29 33.72 40 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207173526 207173526 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 207173526 207173526 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4274 p.S1425C 0.006 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 82 38 31.67 74 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207173771 207173771 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 207173771 207173771 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4519 p.Q1507E 1.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 46 13 22.03 31 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207173891 207173891 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 207173891 207173891 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4639 p.Q1547E 0.033 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 35 20 36.36 73 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207173954 207173954 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 207173954 207173954 A C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4702 p.I1568L 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 10 6 37.50 24 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207173954 207173954 + Missense_Mutation SNP A A C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 2 207173954 207173954 A C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4702 p.I1568L 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 23 24 51.06 25 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207174601 207174601 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207174601 207174601 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.5349 p.K1783N 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 15 8 34.78 39 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207175201 207175201 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207175201 207175201 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.5949 p.K1983N 0.050 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 6 3 33.33 17 0 0.00 ZDBF2 57683 genome.wustl.edu 37 2 207175683 207175683 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207175683 207175683 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.6431 p.R2144I 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 5 6 54.55 21 0 0.00 ZDHHC1 29800 genome.wustl.edu 37 16 67432778 67432778 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67432778 67432778 G C SNP ZDHHC1 ENST00000348579 human ensembl 70_37 -1 known silent c.600 p.V200 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 22 12 35.29 35 0 0.00 ZDHHC11 79844 genome.wustl.edu 37 5 825288 825288 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 825288 825288 C T SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known silent c.1014 p.S338 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 32 10 23.81 57 0 0.00 ZDHHC11 79844 genome.wustl.edu 37 5 848731 848731 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 848731 848731 G A SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known silent c.267 p.I89 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 69 17 19.77 119 0 0.00 ZDHHC11 79844 genome.wustl.edu 37 5 850645 850645 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 850645 850645 G A SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known missense c.73 p.P25S 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 61 20 24.69 61 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710879 710879 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 710879 710879 G A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors ZDHHC11B HGNC ENSG00000206077 45 5 10.00 47 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 36 6 14.29 43 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 59 7 10.61 52 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 32 5 13.51 59 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710921 710921 + RNA SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 5 710921 710921 A G SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.127 - - - no_errors ZDHHC11B HGNC ENSG00000206077 35 6 14.63 43 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710944 710944 + RNA SNP A A G TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 5 710944 710944 A G SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.078 - - - no_errors ZDHHC11B HGNC ENSG00000206077 32 5 13.16 53 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 710972 710973 + RNA DEL GA GA - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 5 710972 710973 GA - DEL ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.714:0.115 - - - no_errors ZDHHC11B HGNC ENSG00000206077 19 6 24.00 27 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 711855 711856 + RNA INS - - TA TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 711855 711856 - TA INS ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.055:0.021 - - - no_errors ZDHHC11B HGNC ENSG00000206077 44 7 13.73 32 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 711855 711856 + RNA INS - - TA TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 711855 711856 - TA INS ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.055:0.021 - - - no_errors ZDHHC11B HGNC ENSG00000206077 41 5 10.87 34 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 711974 711974 + RNA SNP T T A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 711974 711974 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 42 10 19.23 34 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 17 6 26.09 12 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 8 8 50.00 10 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 745361 745361 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 745361 745361 C T SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known silent c.837 p.E279 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 5 15 75.00 24 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 756116 756116 + Silent SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 756116 756116 G T SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known silent c.366 p.I122 0.985 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 73 28 27.72 47 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 756160 756160 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 756160 756160 G A SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known nonsense c.322 p.Q108* 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 23 16 41.03 30 0 0.00 ZDHHC11B 653082 genome.wustl.edu 37 5 766931 766931 + Missense_Mutation SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 5 766931 766931 G A SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known missense c.104 p.S35L 0.981 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 87 15 14.71 145 0 0.00 ZDHHC12 84885 genome.wustl.edu 37 9 131483965 131483965 + Silent SNP C C T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 9 131483965 131483965 C T SNP ZDHHC12 ENST00000372667 human ensembl 70_37 -1 known silent c.489 p.Q163 1.000 pfam_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC12 HGNC ENSG00000160446 29 5 14.71 52 0 0.00 ZDHHC12 84885 genome.wustl.edu 37 9 131486103 131486103 + RNA SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 131486103 131486103 G C SNP ZDHHC12 ENST00000467312 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZDHHC12 HGNC ENSG00000160446 18 7 28.00 20 0 0.00 ZDHHC12 84885 genome.wustl.edu 37 9 131486254 131486254 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131486254 131486254 C A SNP ZDHHC12 ENST00000372667 human ensembl 70_37 -1 known missense c.119 p.R40L 0.493 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC12 HGNC ENSG00000160446 29 34 53.97 56 0 0.00 ZDHHC13 54503 genome.wustl.edu 37 11 19192109 19192109 + Silent SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 11 19192109 19192109 C G SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known silent c.1626 p.L542 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 47 15 23.81 61 0 0.00 ZDHHC13 54503 genome.wustl.edu 37 11 19197384 19197384 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 19197384 19197384 G A SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known silent c.1746 p.Q582 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 27 5 15.62 15 0 0.00 ZDHHC13 54503 genome.wustl.edu 37 11 19197442 19197442 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 11 19197442 19197442 G T SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known missense c.1804 p.D602Y 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 11 7 38.89 22 0 0.00 ZDHHC14 79683 genome.wustl.edu 37 6 157803287 157803287 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 157803287 157803287 C G SNP ZDHHC14 ENST00000359775 human ensembl 70_37 +1 known missense c.234 p.F78L 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 16 4 20.00 18 0 0.00 ZDHHC15 158866 genome.wustl.edu 37 X 74725672 74725672 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 74725672 74725672 C T SNP ZDHHC15 ENST00000373367 human ensembl 70_37 -1 known silent c.147 p.L49 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 26 32 55.17 34 0 0.00 ZDHHC17 23390 genome.wustl.edu 37 12 77235776 77235776 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 77235776 77235776 T G SNP ZDHHC17 ENST00000334822 human ensembl 70_37 +1 known missense c.1156 p.F386V 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 18 4 18.18 39 0 0.00 ZDHHC19 131540 genome.wustl.edu 37 3 195935261 195935261 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 195935261 195935261 G C SNP ZDHHC19 ENST00000296326 human ensembl 70_37 -1 known missense c.579 p.I193M 0.032 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 108 33 23.40 62 0 0.00 ZDHHC20 253832 genome.wustl.edu 37 13 21950739 21950739 + RNA SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 13 21950739 21950739 G A SNP ZDHHC20 ENST00000464055 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors ZDHHC20 HGNC ENSG00000180776 30 8 21.05 38 0 0.00 ZDHHC20 253832 genome.wustl.edu 37 13 21987845 21987845 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 21987845 21987845 T G SNP ZDHHC20 ENST00000400590 human ensembl 70_37 -1 known missense c.316 p.I106L 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 29 8 21.62 82 0 0.00 ZDHHC21 340481 genome.wustl.edu 37 9 14672836 14672836 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 14672836 14672836 G T SNP ZDHHC21 ENST00000380916 human ensembl 70_37 -1 known missense c.245 p.P82Q 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ENSG00000175893 36 4 10.00 64 0 0.00 ZDHHC23 254887 genome.wustl.edu 37 3 113672893 113672893 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 113672893 113672893 C T SNP ZDHHC23 ENST00000478793 human ensembl 70_37 +1 known nonsense c.508 p.Q170* 0.980 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 80 34 29.82 147 0 0.00 ZDHHC23 254887 genome.wustl.edu 37 3 113672893 113672893 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 113672893 113672893 C T SNP ZDHHC23 ENST00000478793 human ensembl 70_37 +1 known nonsense c.508 p.Q170* 0.980 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 87 17 16.35 131 0 0.00 ZDHHC23 254887 genome.wustl.edu 37 3 113678541 113678541 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 113678541 113678541 C G SNP ZDHHC23 ENST00000488129 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors ZDHHC23 HGNC ENSG00000184307 6 6 50.00 23 0 0.00 ZDHHC23 254887 genome.wustl.edu 37 3 113681778 113681778 + RNA SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 3 113681778 113681778 T C SNP ZDHHC23 ENST00000488129 human ensembl 70_37 +1 putative rna NULL NULL 0.271 - - - no_errors ZDHHC23 HGNC ENSG00000184307 45 9 16.67 27 0 0.00 ZDHHC24 254359 genome.wustl.edu 37 11 66311238 66311238 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 66311238 66311238 G A SNP ZDHHC24 ENST00000310442 human ensembl 70_37 -1 known nonsense c.496 p.R166* 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC24 HGNC ENSG00000174165 37 6 13.95 34 0 0.00 ZDHHC3 51304 genome.wustl.edu 37 3 44959380 44959380 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 3 44959380 44959380 G C SNP ZDHHC3 ENST00000466084 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZDHHC3 HGNC ENSG00000163812 97 66 40.49 104 0 0.00 ZDHHC5 25921 genome.wustl.edu 37 11 57466157 57466157 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 57466157 57466157 C G SNP ZDHHC5 ENST00000287169 human ensembl 70_37 +1 known missense c.1249 p.H417D 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 40 12 23.08 66 0 0.00 ZDHHC5 25921 genome.wustl.edu 37 11 57466416 57466416 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 57466416 57466416 C T SNP ZDHHC5 ENST00000287169 human ensembl 70_37 +1 known missense c.1508 p.S503L 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 32 11 25.58 79 0 0.00 ZDHHC6 64429 genome.wustl.edu 37 10 114194092 114194092 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 114194092 114194092 C T SNP ZDHHC6 ENST00000369405 human ensembl 70_37 -1 known nonsense c.866 p.W289* 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 31 24 43.64 64 0 0.00 ZDHHC7 55625 genome.wustl.edu 37 16 85011579 85011579 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 85011579 85011579 C T SNP ZDHHC7 ENST00000344861 human ensembl 70_37 -1 known silent c.681 p.L227 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 8 4 33.33 34 0 0.00 ZDHHC7 55625 genome.wustl.edu 37 16 85022397 85022397 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 85022397 85022397 C T SNP ZDHHC7 ENST00000344861 human ensembl 70_37 -1 known missense c.398 p.G133E 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 25 22 46.81 56 0 0.00 ZDHHC8 29801 genome.wustl.edu 37 22 20127384 20127384 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 20127384 20127384 G A SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known missense c.526 p.E176K 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 15 13 46.43 31 0 0.00 ZDHHC8 29801 genome.wustl.edu 37 22 20127392 20127392 + Silent SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 20127392 20127392 G T SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known silent c.534 p.L178 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 27 3 10.00 28 0 0.00 ZDHHC8 29801 genome.wustl.edu 37 22 20128963 20128963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20128963 20128963 G C SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known missense c.1035 p.Q345H 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 109 46 29.68 101 0 0.00 ZDHHC8P1 150244 genome.wustl.edu 37 22 23733547 23733547 + RNA DEL T T - TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 22 23733547 23733547 T - DEL ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 8 2 20.00 8 0 0.00 ZDHHC8P1 150244 genome.wustl.edu 37 22 23742637 23742637 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 23742637 23742637 G A SNP ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 0.895 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 9 6 40.00 9 0 0.00 ZDHHC8P1 150244 genome.wustl.edu 37 22 23742709 23742709 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 22 23742709 23742709 G C SNP ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 16 7 30.43 20 0 0.00 ZDHHC9 51114 genome.wustl.edu 37 X 128947660 128947660 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 128947660 128947660 G A SNP ZDHHC9 ENST00000357166 human ensembl 70_37 -1 known missense c.667 p.P223S 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ENSG00000188706 78 23 22.77 44 0 0.00 ZEB1 6935 genome.wustl.edu 37 10 31799694 31799694 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 10 31799694 31799694 G A SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known missense c.578 p.R193H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 23 5 17.86 42 0 0.00 ZEB1 6935 genome.wustl.edu 37 10 31810200 31810200 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 31810200 31810200 C A SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known missense c.1940 p.S647Y 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 13 9 40.91 23 0 0.00 ZEB1 6935 genome.wustl.edu 37 10 31815698 31815698 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 31815698 31815698 C T SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known nonsense c.2884 p.Q962* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 33 15 31.25 53 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145147236 145147236 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 145147236 145147236 C A SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known nonsense c.3427 p.E1143* 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 51 19 27.14 94 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145147260 145147260 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 145147260 145147260 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3403 p.E1135K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 215 53 19.78 289 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 145147383 145147383 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3280 p.E1094K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 26 12 31.58 32 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 145147383 145147383 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3280 p.E1094K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 64 8 11.11 100 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145156053 145156053 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 2 145156053 145156053 G C SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.2701 p.Q901E 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 21 20 48.78 32 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145157027 145157027 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 145157027 145157027 T C SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.1727 p.N576S 0.869 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 11 4 26.67 24 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145157221 145157221 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 145157221 145157221 G A SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known silent c.1533 p.V511 0.888 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 32 5 13.51 35 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145157705 145157705 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 145157705 145157705 G T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.1049 p.T350K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 29 12 29.27 52 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145157710 145157710 + Frame_Shift_Del DEL G G - TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 145157710 145157710 G - DEL ZEB2 ENST00000303660 human ensembl 70_37 -1 known frame_shift_del c.1044 p.K349fs 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 26 18 40.91 42 0 0.00 ZEB2 9839 genome.wustl.edu 37 2 145275290 145275290 + RNA SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 145275290 145275290 G A SNP ZEB2 ENST00000470879 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors ZEB2 HGNC ENSG00000169554 7 4 36.36 13 0 0.00 ZER1 10444 genome.wustl.edu 37 9 131497626 131497626 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 131497626 131497626 G A SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known silent c.2127 p.L709 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 54 10 15.62 49 0 0.00 ZER1 10444 genome.wustl.edu 37 9 131503817 131503817 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 131503817 131503817 C T SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known silent c.1734 p.L578 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 37 6 13.95 44 0 0.00 ZER1 10444 genome.wustl.edu 37 9 131513487 131513487 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 131513487 131513487 G A SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 11 8 42.11 25 0 0.00 ZER1 10444 genome.wustl.edu 37 9 131513726 131513726 + Missense_Mutation SNP G G C TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 9 131513726 131513726 G C SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known missense c.1004 p.S335C 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 35 8 18.60 49 0 0.00 ZFAND2B 130617 genome.wustl.edu 37 2 220072422 220072422 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 2 220072422 220072422 G T SNP ZFAND2B ENST00000289528 human ensembl 70_37 +1 known missense c.203 p.R68I 1.000 NULL pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1 - no_errors ZFAND2B HGNC ENSG00000158552 12 8 40.00 21 0 0.00 ZFAND3 60685 genome.wustl.edu 37 6 38120554 38120554 + RNA SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 38120554 38120554 G A SNP ZFAND3 ENST00000440482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZFAND3 HGNC ENSG00000156639 11 11 50.00 30 0 0.00 ZFAND4 93550 genome.wustl.edu 37 10 46113667 46113667 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 46113667 46113667 G A SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known missense c.1969 p.L657F 0.888 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ENSG00000172671 13 9 40.91 20 0 0.00 ZFAND4 93550 genome.wustl.edu 37 10 46122404 46122404 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 46122404 46122404 G C SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.867 p.P289 0.852 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ENSG00000172671 30 9 23.08 37 0 0.00 ZFAND4 93550 genome.wustl.edu 37 10 46122404 46122404 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 46122404 46122404 G C SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.867 p.P289 0.852 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ENSG00000172671 73 35 32.41 109 0 0.00 ZFAND4 93550 genome.wustl.edu 37 10 46147460 46147460 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 46147460 46147460 C T SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ENSG00000172671 10 4 28.57 26 0 0.00 ZFAND5 7763 genome.wustl.edu 37 9 74969816 74969816 + RNA SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 74969816 74969816 G C SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ENSG00000107372 12 3 20.00 21 0 0.00 ZFAND5 7763 genome.wustl.edu 37 9 74969854 74969854 + RNA SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 74969854 74969854 C A SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ENSG00000107372 21 11 34.38 47 0 0.00 ZFAND5 7763 genome.wustl.edu 37 9 74970853 74970853 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 74970853 74970853 C T SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ENSG00000107372 32 21 39.62 68 0 0.00 ZFAND5 7763 genome.wustl.edu 37 9 74971875 74971875 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 74971875 74971875 G T SNP ZFAND5 ENST00000237937 human ensembl 70_37 -1 known missense c.465 p.F155L 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND5 HGNC ENSG00000107372 57 19 24.68 124 0 0.00 ZFAT 57623 genome.wustl.edu 37 8 135600571 135600571 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 135600571 135600571 C G SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.2631 p.K877N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 26 12 31.58 18 0 0.00 ZFAT 57623 genome.wustl.edu 37 8 135614806 135614806 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 135614806 135614806 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.1156 p.E386K 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 36 16 30.77 39 0 0.00 ZFAT 57623 genome.wustl.edu 37 8 135649857 135649857 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 135649857 135649857 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.295 p.E99K 0.127 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 134 41 23.30 104 0 0.00 ZFAT 57623 genome.wustl.edu 37 8 135669870 135669870 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 135669870 135669870 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.130 p.E44K 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 15 14 48.28 30 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72013120 72013120 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 72013120 72013120 T C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.5119 p.K1707E 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 41 27 39.71 70 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72021566 72021566 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 72021566 72021566 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known silent c.4095 p.L1365 1.000 pfscan_TPR-contain_dom pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 26 7 21.21 42 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72030728 72030728 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 72030728 72030728 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.1837 p.P613A 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 80 22 21.57 77 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72038798 72038798 + Nonsense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 12 72038798 72038798 G A SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known nonsense c.1138 p.Q380* 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 50 37 42.53 63 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72056802 72056802 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 72056802 72056802 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.589 p.R197G 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 335 93 21.73 506 0 0.00 ZFC3H1 196441 genome.wustl.edu 37 12 72057194 72057194 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 72057194 72057194 G A SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.197 p.S66F 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 22 16 42.11 58 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23992487 23992487 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23992487 23992487 G A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.6664 p.R2222C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 30 14 31.82 29 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23992625 23992625 + Nonsense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 23992625 23992625 C A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known nonsense c.6526 p.E2176* 1.000 smart_Znf_U1 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 30 26 46.43 58 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23993957 23993957 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 23993957 23993957 C G SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.5194 p.E1732Q 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 81 43 34.40 122 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23993993 23993993 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 14 23993993 23993993 C T SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.5158 p.E1720K 0.988 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 49 10 16.95 66 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23994363 23994363 + Silent SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 14 23994363 23994363 C T SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known silent c.4788 p.R1596 0.854 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 38 26 40.62 60 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23994585 23994585 + Silent SNP G G A TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 14 23994585 23994585 G A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known silent c.4566 p.S1522 0.989 superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 41 10 19.61 81 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 23995850 23995850 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 23995850 23995850 G C SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.3301 p.L1101V 0.959 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 39 19 32.76 85 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 24003250 24003250 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 14 24003250 24003250 G A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.1285 p.P429S 0.966 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 39 15 27.78 56 0 0.00 ZFHX2 85446 genome.wustl.edu 37 14 24004432 24004432 + Missense_Mutation SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 24004432 24004432 C T SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.103 p.D35N 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 34 8 19.05 27 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72821171 72821171 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 72821171 72821171 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.11004 p.L3668 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 262 144 35.47 422 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72821213 72821213 + Silent SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72821213 72821213 C G SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.10962 p.S3654 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 27 4 12.90 28 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72822199 72822199 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 72822199 72822199 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.9976 p.A3326T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 48 6 11.11 51 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72827610 72827610 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 72827610 72827610 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known nonsense c.8971 p.Q2991* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 48 19 28.36 44 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72827732 72827732 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 72827732 72827732 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.8849 p.R2950H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 23 19 45.24 53 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72828478 72828478 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 72828478 72828478 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.8103 p.F2701 1.000 smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 39 24 38.10 80 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72828798 72828798 + Nonsense_Mutation SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 16 72828798 72828798 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known nonsense c.7783 p.Q2595* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 102 49 32.45 156 1 0.64 ZFHX3 463 genome.wustl.edu 37 16 72828826 72828826 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 72828826 72828826 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.7755 p.A2585 0.446 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 36 11 23.40 77 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72829029 72829029 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 16 72829029 72829029 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known nonsense c.7552 p.Q2518* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 19 4 17.39 24 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72830806 72830807 + Frame_Shift_Ins INS - - C TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 16 72830806 72830807 - C INS ZFHX3 ENST00000268489 human ensembl 70_37 -1 known frame_shift_ins c.5775_5774 p.G1926fs 0.000:0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 52 20 27.78 37 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72831052 72831052 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 72831052 72831052 C G SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.5529 p.Q1843H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 33 12 26.67 56 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72831666 72831666 + Missense_Mutation SNP T T C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 16 72831666 72831666 T C SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.4915 p.T1639A 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 40 6 13.04 33 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72832329 72832329 + Missense_Mutation SNP G G A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 16 72832329 72832329 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.4252 p.L1418F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 46 12 20.69 33 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72845491 72845491 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 72845491 72845491 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.3849 p.E1283 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 45 8 14.81 49 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72845843 72845843 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 72845843 72845843 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.3624 p.S1208 0.026 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 16 16 50.00 32 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72984640 72984640 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 72984640 72984640 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.2944 p.D982N 1.000 smart_Znf_U1 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 33 10 22.73 50 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72984827 72984827 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 72984827 72984827 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.2757 p.G919 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 27 6 17.65 37 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72992795 72992795 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 72992795 72992795 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.1250 p.S417L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 12 10 45.45 22 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72992896 72992896 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 72992896 72992896 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.1149 p.S383 0.690 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 34 5 12.82 41 0 0.00 ZFHX3 463 genome.wustl.edu 37 16 72993679 72993679 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 72993679 72993679 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.366 p.E122 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 75 14 15.73 74 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77618006 77618006 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 8 77618006 77618006 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.1683 p.D561 0.403 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 23 13 35.14 22 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77618364 77618364 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 77618364 77618364 C G SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.2041 p.Q681E 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 27 6 18.18 20 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77754902 77754902 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 77754902 77754902 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.3406 p.E1136K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 7 5 41.67 31 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77763451 77763451 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 77763451 77763451 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.4294 p.R1432C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 27 4 12.90 27 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77763459 77763459 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 77763459 77763459 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.4302 p.F1434 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 18 8 30.77 36 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77763576 77763576 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 8 77763576 77763576 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.4419 p.S1473 0.958 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 23 12 34.29 42 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77764826 77764826 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 77764826 77764826 C G SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.5669 p.S1890C 0.837 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 20 3 13.04 21 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77766172 77766172 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 8 77766172 77766172 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.7015 p.E2339K 1.000 pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 14 7 33.33 32 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77766275 77766275 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 77766275 77766275 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.7118 p.A2373V 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 29 24 45.28 28 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77766275 77766275 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 8 77766275 77766275 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.7118 p.A2373V 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 60 53 46.90 124 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77767017 77767017 + Silent SNP C C G TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 8 77767017 77767017 C G SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.7860 p.L2620 0.996 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 16 7 29.17 20 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77767198 77767198 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 77767198 77767198 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known nonsense c.8041 p.R2681* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 12 8 40.00 17 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77767390 77767390 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 77767390 77767390 G C SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.8233 p.E2745Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 32 7 17.95 36 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77767525 77767525 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 77767525 77767525 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.8368 p.E2790K 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 22 10 31.25 24 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77768238 77768238 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 77768238 77768238 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.9081 p.F3027 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 32 4 11.11 15 0 0.00 ZFHX4 79776 genome.wustl.edu 37 8 77776073 77776073 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 77776073 77776073 G T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known nonsense c.10123 p.E3375* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 13 5 27.78 24 0 0.00 ZFP1 162239 genome.wustl.edu 37 16 75203198 75203198 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 75203198 75203198 G A SNP ZFP1 ENST00000393430 human ensembl 70_37 +1 known missense c.190 p.D64N 0.004 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP1 HGNC ENSG00000184517 45 17 27.42 64 0 0.00 ZNF106 64397 genome.wustl.edu 37 15 42729566 42729566 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 42729566 42729566 G C SNP ZFP106 ENST00000263805 human ensembl 70_37 -1 known nonsense c.4541 p.S1514* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 25 15 37.50 44 0 0.00 ZNF106 64397 genome.wustl.edu 37 15 42734469 42734469 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 42734469 42734469 G A SNP ZFP106 ENST00000263805 human ensembl 70_37 -1 known missense c.3496 p.H1166Y 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 101 14 12.17 93 0 0.00 ZNF112 7771 genome.wustl.edu 37 19 44831989 44831989 + Missense_Mutation SNP T T A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 19 44831989 44831989 T A SNP ZFP112 ENST00000536500 human ensembl 70_37 -1 known missense c.2390 p.E797V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP112 HGNC ENSG00000062370 64 49 40.83 46 0 0.00 ZNF112 7771 genome.wustl.edu 37 19 44832470 44832470 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 44832470 44832470 G A SNP ZFP112 ENST00000536500 human ensembl 70_37 -1 known missense c.1909 p.R637W 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP112 HGNC ENSG00000062370 83 10 10.75 86 0 0.00 ZNF112 7771 genome.wustl.edu 37 19 44832961 44832961 + Nonsense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 44832961 44832961 G C SNP ZFP112 ENST00000536500 human ensembl 70_37 -1 known nonsense c.1418 p.S473* 0.005 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP112 HGNC ENSG00000062370 35 13 27.08 32 0 0.00 ZFP14 57677 genome.wustl.edu 37 19 36831229 36831229 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36831229 36831229 C T SNP ZFP14 ENST00000270001 human ensembl 70_37 -1 known missense c.1499 p.R500K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP14 HGNC ENSG00000142065 56 13 18.84 66 0 0.00 ZFP14 57677 genome.wustl.edu 37 19 36851367 36851367 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 36851367 36851367 C T SNP ZFP14 ENST00000270001 human ensembl 70_37 -1 known missense c.205 p.V69M 0.965 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP14 HGNC ENSG00000142065 60 36 37.50 117 0 0.00 ZBTB14 7541 genome.wustl.edu 37 18 5291062 5291062 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 5291062 5291062 C T SNP ZFP161 ENST00000357006 human ensembl 70_37 -1 known missense c.1145 p.R382K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZFP161 HGNC ENSG00000198081 100 49 32.89 140 0 0.00 ZFP2 80108 genome.wustl.edu 37 5 178358445 178358445 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178358445 178358445 G A SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.131 p.R44K 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 11 12 52.17 45 0 0.00 ZFP2 80108 genome.wustl.edu 37 5 178358759 178358759 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178358759 178358759 C G SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.445 p.Q149E 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 15 6 28.57 8 0 0.00 ZFP2 80108 genome.wustl.edu 37 5 178358817 178358817 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 178358817 178358817 G T SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.503 p.S168I 0.958 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 34 4 10.53 50 0 0.00 ZFP28 140612 genome.wustl.edu 37 19 57065070 57065070 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 57065070 57065070 G A SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.916 p.E306K 0.113 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 38 11 22.45 37 0 0.00 ZFP28 140612 genome.wustl.edu 37 19 57065086 57065086 + Missense_Mutation SNP T T G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 57065086 57065086 T G SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.932 p.F311C 0.028 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 17 4 19.05 29 0 0.00 ZFP28 140612 genome.wustl.edu 37 19 57065696 57065696 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57065696 57065696 C T SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known silent c.1542 p.F514 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 27 18 40.00 37 0 0.00 ZFP28 140612 genome.wustl.edu 37 19 57066329 57066329 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57066329 57066329 C A SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known silent c.2175 p.G725 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 24 11 31.43 34 0 0.00 ZFP28 140612 genome.wustl.edu 37 19 57066448 57066448 + Missense_Mutation SNP C C T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 57066448 57066448 C T SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.2294 p.A765V 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 38 41 51.90 52 0 0.00 ZFP36 7538 genome.wustl.edu 37 19 39898437 39898437 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39898437 39898437 G C SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.97 p.E33Q 0.210 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 103 65 38.46 127 0 0.00 ZFP36 7538 genome.wustl.edu 37 19 39898462 39898462 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 39898462 39898462 C T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.122 p.S41L 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 64 17 20.99 126 0 0.00 ZFP36 7538 genome.wustl.edu 37 19 39898586 39898586 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 39898586 39898586 C G SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.246 p.F82L 0.378 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 19 17 47.22 26 0 0.00 ZFP36 7538 genome.wustl.edu 37 19 39898893 39898893 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39898893 39898893 C T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.553 p.P185S 0.902 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 50 14 21.88 40 0 0.00 ZFP36 7538 genome.wustl.edu 37 19 39899088 39899088 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 39899088 39899088 G T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.748 p.D250Y 0.039 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 56 8 12.50 81 0 0.00 ZFP36L1 677 genome.wustl.edu 37 14 69256314 69256314 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256314 69256314 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known missense c.953 p.S318F 1.000 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 27 6 18.18 31 0 0.00 ZFP36L1 677 genome.wustl.edu 37 14 69256775 69256775 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256775 69256775 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.492 p.I164 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 40 8 16.67 35 0 0.00 ZFP36L1 677 genome.wustl.edu 37 14 69256775 69256775 + Silent SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 14 69256775 69256775 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.492 p.I164 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 84 11 11.58 84 0 0.00 ZFP36L1 677 genome.wustl.edu 37 14 69259641 69259641 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 14 69259641 69259641 G A SNP ZFP36L1 ENST00000336440 human ensembl 70_37 -1 known silent c.15 p.L5 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 61 17 21.79 108 0 0.00 ZFP36L1 677 genome.wustl.edu 37 14 69262694 69262694 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 69262694 69262694 C G SNP ZFP36L1 ENST00000408913 human ensembl 70_37 -1 known silent c.318 p.S106 0.000 NULL NULL - no_errors ZFP36L1 HGNC ENSG00000185650 17 8 32.00 30 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452364 43452364 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 43452364 43452364 C G SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.579 p.K193N 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 86 28 24.35 90 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452373 43452373 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 43452373 43452373 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known silent c.570 p.P190 0.977 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 99 42 29.58 159 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452399 43452399 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 43452399 43452399 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 83 49 37.12 107 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452529 43452529 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 43452529 43452529 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known silent c.414 p.Q138 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 19 18 48.65 49 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452542 43452542 + Missense_Mutation SNP A A T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 43452542 43452542 A T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.401 p.L134H 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 19 20 48.78 20 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452806 43452806 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 2 43452806 43452806 G A SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.137 p.S46L 0.996 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 23 4 14.81 34 0 0.00 ZFP36L2 678 genome.wustl.edu 37 2 43452886 43452886 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 43452886 43452886 C G SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.57 p.E19D 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 27 4 12.90 30 0 0.00 ZFP37 7539 genome.wustl.edu 37 9 115805337 115805337 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 115805337 115805337 G A SNP ZFP37 ENST00000553380 human ensembl 70_37 -1 known nonsense c.1606 p.Q536* 0.537 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 42 11 20.75 42 0 0.00 ZFP37 7539 genome.wustl.edu 37 9 115806340 115806340 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 115806340 115806340 C T SNP ZFP37 ENST00000553380 human ensembl 70_37 -1 known silent c.603 p.Q201 0.318 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 119 46 27.88 219 1 0.45 ZFP41 286128 genome.wustl.edu 37 8 144332125 144332125 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 144332125 144332125 G C SNP ZFP41 ENST00000330701 human ensembl 70_37 +1 known missense c.112 p.E38Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 48 18 27.27 80 0 0.00 ZFP41 286128 genome.wustl.edu 37 8 144332331 144332331 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 144332331 144332331 G C SNP ZFP41 ENST00000330701 human ensembl 70_37 +1 known missense c.318 p.Q106H 0.940 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 39 38 49.35 43 0 0.00 ZFP42 132625 genome.wustl.edu 37 4 188923976 188923976 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 188923976 188923976 G A SNP ZFP42 ENST00000326866 human ensembl 70_37 +1 known silent c.15 p.L5 0.179 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 101 22 17.89 173 0 0.00 ZFP57 346171 genome.wustl.edu 37 6 29640768 29640768 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 29640768 29640768 G A SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known missense c.1120 p.H374Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 24 27 51.92 47 0 0.00 ZFP57 346171 genome.wustl.edu 37 6 29641066 29641066 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 29641066 29641066 G A SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known silent c.822 p.L274 0.373 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 27 33 55.00 93 0 0.00 ZFP57 346171 genome.wustl.edu 37 6 29643801 29643801 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29643801 29643801 G T SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known missense c.159 p.F53L 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 354 76 17.55 429 0 0.00 ZFP62 643836 genome.wustl.edu 37 5 180276040 180276040 + Missense_Mutation SNP T T C TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 5 180276040 180276040 T C SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known missense c.2356 p.K786E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 23 4 14.81 30 0 0.00 ZFP62 643836 genome.wustl.edu 37 5 180277034 180277034 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180277034 180277034 G A SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known silent c.1362 p.I454 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 17 8 32.00 46 0 0.00 ZFP62 643836 genome.wustl.edu 37 5 180277836 180277836 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 5 180277836 180277836 G T SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known missense c.560 p.S187Y 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 17 13 43.33 34 0 0.00 ZFP64 55734 genome.wustl.edu 37 20 50776785 50776785 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 50776785 50776785 C T SNP ZFP64 ENST00000216923 human ensembl 70_37 -1 known missense c.640 p.D214N 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 107 13 10.83 146 0 0.00 ZFP82 284406 genome.wustl.edu 37 19 36884445 36884445 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 36884445 36884445 C T SNP ZFP82 ENST00000392161 human ensembl 70_37 -1 known missense c.797 p.R266Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 230 44 16.06 266 0 0.00 ZFP90 146198 genome.wustl.edu 37 16 68592277 68592277 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68592277 68592277 G C SNP ZFP90 ENST00000564558 human ensembl 70_37 +1 known splice_site c.161-1 e3-1 1.000 - - - no_errors ZFP90 HGNC ENSG00000184939 27 22 44.90 48 0 0.00 ZFP90 146198 genome.wustl.edu 37 16 68597358 68597358 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 68597358 68597358 G T SNP ZFP90 ENST00000398253 human ensembl 70_37 +1 known missense c.668 p.R223I 0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP90 HGNC ENSG00000184939 22 3 12.00 32 0 0.00 ZFP90 146198 genome.wustl.edu 37 16 68598252 68598252 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 16 68598252 68598252 G C SNP ZFP90 ENST00000398253 human ensembl 70_37 +1 known missense c.1562 p.G521A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP90 HGNC ENSG00000184939 21 6 22.22 32 0 0.00 ZFP91 80829 genome.wustl.edu 37 11 58378523 58378523 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 58378523 58378523 G C SNP ZFP91 ENST00000316059 human ensembl 70_37 +1 known missense c.718 p.E240Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 52 15 22.39 99 0 0.00 ZFPL1 7542 genome.wustl.edu 37 11 64853951 64853951 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 64853951 64853951 C T SNP ZFPL1 ENST00000531761 human ensembl 70_37 +1 known missense c.167 p.P56L 0.659 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 32 17 34.69 75 0 0.00 ZFPL1 7542 genome.wustl.edu 37 11 64854019 64854019 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 64854019 64854019 C T SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.347 p.S116F 0.771 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 70 10 12.50 43 0 0.00 ZFPL1 7542 genome.wustl.edu 37 11 64854869 64854869 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 64854869 64854869 G A SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.710 p.R237H 1.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 61 20 24.69 71 0 0.00 ZFPL1 7542 genome.wustl.edu 37 11 64855570 64855570 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 11 64855570 64855570 G A SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.917 p.R306H 1.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 64 16 19.75 90 0 0.00 ZFPM1 161882 genome.wustl.edu 37 16 88599036 88599036 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 88599036 88599036 G A SNP ZFPM1 ENST00000319555 human ensembl 70_37 +1 known missense c.961 p.V321M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 38 18 32.14 53 0 0.00 ZFPM2 23414 genome.wustl.edu 37 8 106431433 106431433 + Silent SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 8 106431433 106431433 C A SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known silent c.102 p.I34 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 42 8 16.00 30 0 0.00 ZFPM2 23414 genome.wustl.edu 37 8 106646569 106646569 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 106646569 106646569 C T SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known silent c.516 p.C172 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 31 4 11.43 44 0 0.00 ZFPM2 23414 genome.wustl.edu 37 8 106813964 106813964 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 106813964 106813964 G C SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known missense c.1654 p.E552Q 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 42 23 35.38 54 0 0.00 ZFPM2 23414 genome.wustl.edu 37 8 106815372 106815372 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 106815372 106815372 C T SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known missense c.3062 p.S1021L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 23 24 51.06 36 0 0.00 ZFR 51663 genome.wustl.edu 37 5 32355672 32355672 + RNA DEL T T - TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 32355672 32355672 T - DEL ZFR ENST00000510369 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZFR HGNC ENSG00000056097 24 3 11.11 26 0 0.00 ZFR 51663 genome.wustl.edu 37 5 32355732 32355732 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 32355732 32355732 C G SNP ZFR ENST00000510369 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ZFR HGNC ENSG00000056097 37 30 44.78 28 0 0.00 ZFR 51663 genome.wustl.edu 37 5 32387714 32387714 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 32387714 32387714 C G SNP ZFR ENST00000265069 human ensembl 70_37 -1 known missense c.2440 p.E814Q 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 31 18 36.73 45 0 0.00 ZFR2 23217 genome.wustl.edu 37 19 3822092 3822092 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 3822092 3822092 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1478 p.R493Q 1.000 smart_Znf_U1 pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 68 20 22.73 100 0 0.00 ZFR2 23217 genome.wustl.edu 37 19 3823381 3823381 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3823381 3823381 C A SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1234 p.A412S 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 76 15 16.48 61 0 0.00 ZFR2 23217 genome.wustl.edu 37 19 3825390 3825390 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 3825390 3825390 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1051 p.A351T 1.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 87 21 19.44 78 0 0.00 ZFR2 23217 genome.wustl.edu 37 19 3827625 3827625 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 3827625 3827625 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known silent c.879 p.Q293 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 48 44 47.83 75 0 0.00 ZFX 7543 genome.wustl.edu 37 X 24197540 24197540 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 24197540 24197540 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.416 p.S139L 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 104 46 30.67 88 0 0.00 ZFX 7543 genome.wustl.edu 37 X 24197734 24197734 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 24197734 24197734 G A SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.610 p.E204K 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 51 20 28.17 68 0 0.00 ZFX 7543 genome.wustl.edu 37 X 24225503 24225503 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 24225503 24225503 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.824 p.S275L 0.230 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 92 15 14.02 59 0 0.00 ZFX 7543 genome.wustl.edu 37 X 24225966 24225966 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 24225966 24225966 G C SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.1051 p.D351H 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 92 14 13.21 108 0 0.00 ZFX 7543 genome.wustl.edu 37 X 24229099 24229099 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 24229099 24229099 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.2141 p.S714L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 35 23 39.66 59 0 0.00 ZFYVE1 53349 genome.wustl.edu 37 14 73441663 73441663 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 73441663 73441663 C T SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known missense c.1811 p.C604Y 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 21 11 34.38 21 0 0.00 ZFYVE1 53349 genome.wustl.edu 37 14 73444865 73444865 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 14 73444865 73444865 G A SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known silent c.1497 p.L499 0.292 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 24 3 11.11 44 0 0.00 ZFYVE1 53349 genome.wustl.edu 37 14 73490808 73490808 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 73490808 73490808 C G SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known missense c.409 p.E137Q 1.000 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 50 14 21.88 39 0 0.00 ZFYVE16 9765 genome.wustl.edu 37 5 79706148 79706149 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 79706148 79706149 - A INS ZFYVE16 ENST00000512442 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors ZFYVE16 HGNC ENSG00000039319 47 6 11.32 34 0 0.00 ZFYVE16 9765 genome.wustl.edu 37 5 79734302 79734302 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 79734302 79734302 G C SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.1798 p.D600H 0.959 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 12 5 29.41 14 0 0.00 ZFYVE16 9765 genome.wustl.edu 37 5 79744022 79744022 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 79744022 79744022 G A SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.2902 p.D968N 0.011 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 36 25 40.98 43 0 0.00 ZFYVE16 9765 genome.wustl.edu 37 5 79747465 79747465 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 79747465 79747465 G C SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.3544 p.E1182Q 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 162 35 17.77 207 0 0.00 ZFYVE16 9765 genome.wustl.edu 37 5 79770494 79770494 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 79770494 79770494 C G SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.4306 p.L1436V 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 20 12 37.50 30 0 0.00 ZFYVE19 84936 genome.wustl.edu 37 15 41099875 41099875 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 41099875 41099875 G T SNP ZFYVE19 ENST00000355341 human ensembl 70_37 +1 known missense c.88 p.G30C 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 27 4 12.90 30 0 0.00 ZFYVE19 84936 genome.wustl.edu 37 15 41106171 41106171 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 15 41106171 41106171 G A SNP ZFYVE19 ENST00000355341 human ensembl 70_37 +1 known missense c.1240 p.E414K 0.982 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 25 11 30.56 45 0 0.00 ZFYVE20 64145 genome.wustl.edu 37 3 15115861 15115861 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 15115861 15115861 G C SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.1783 p.Q595E 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 30 4 11.76 31 0 0.00 ZFYVE20 64145 genome.wustl.edu 37 3 15116161 15116161 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 15116161 15116161 C T SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.1483 p.E495K 1.000 pfam_Rbsn pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 12 19 61.29 31 0 0.00 ZFYVE20 64145 genome.wustl.edu 37 3 15131981 15131981 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 15131981 15131981 C T SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 91 38 29.46 190 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68215191 68215191 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 14 68215191 68215191 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.7582 p.H2528Y 0.996 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 9 3 25.00 14 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68221929 68221929 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 68221929 68221929 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.6825 p.F2275 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 28 5 15.15 18 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68229033 68229033 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 68229033 68229033 A C SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.6256 p.F2086V 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 16 10 38.46 27 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68229100 68229100 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 68229100 68229100 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.6189 p.T2063 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 9 9 50.00 25 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68244947 68244947 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 68244947 68244947 C G SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.4693 p.E1565Q 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 66 26 28.26 53 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68251080 68251080 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 68251080 68251080 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.3597 p.L1199 0.998 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 89 21 18.92 68 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68257344 68257344 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 68257344 68257344 C A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.2700 p.R900 0.541 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 113 39 25.66 171 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68264470 68264470 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 68264470 68264470 C G SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.2251 p.E751Q 0.964 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 26 3 10.34 44 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68265155 68265155 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 68265155 68265155 C T SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.1824 p.K608 0.001 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 36 18 33.33 37 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68265155 68265155 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 68265155 68265155 C T SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.1824 p.K608 0.001 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 59 37 38.54 82 0 0.00 ZFYVE26 23503 genome.wustl.edu 37 14 68282646 68282646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 68282646 68282646 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.35 p.S12L 0.981 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 23 18 43.90 25 0 0.00 ZFYVE27 118813 genome.wustl.edu 37 10 99516960 99516960 + RNA SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 10 99516960 99516960 G T SNP ZFYVE27 ENST00000477521 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors ZFYVE27 HGNC ENSG00000155256 31 4 11.43 35 0 0.00 ZFYVE28 57732 genome.wustl.edu 37 4 2306606 2306606 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 4 2306606 2306606 G T SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known missense c.1461 p.H487Q 0.994 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 28 4 12.50 25 0 0.00 ZFYVE28 57732 genome.wustl.edu 37 4 2307163 2307163 + Nonsense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 2307163 2307163 C A SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known nonsense c.904 p.G302* 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 21 4 16.00 19 0 0.00 ZFYVE28 57732 genome.wustl.edu 37 4 2307235 2307235 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 4 2307235 2307235 C T SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known missense c.832 p.E278K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 15 6 28.57 18 0 0.00 ZFYVE28 57732 genome.wustl.edu 37 4 2343313 2343313 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 2343313 2343313 G A SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known silent c.210 p.I70 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 38 6 13.64 42 0 0.00 ZFYVE9 9372 genome.wustl.edu 37 1 52704665 52704665 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 52704665 52704665 G A SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.1576 p.E526K 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 24 18 42.86 29 0 0.00 ZFYVE9 9372 genome.wustl.edu 37 1 52798442 52798442 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 52798442 52798442 G C SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3441 p.M1147I 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 43 14 24.56 55 0 0.00 ZFYVE9 9372 genome.wustl.edu 37 1 52798442 52798442 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 52798442 52798442 G C SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3441 p.M1147I 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 53 8 13.11 56 0 0.00 ZFYVE9 9372 genome.wustl.edu 37 1 52810485 52810485 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 52810485 52810485 C T SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3985 p.P1329S 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 48 7 12.73 41 0 0.00 ZG16B 124220 genome.wustl.edu 37 16 2881978 2881978 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 2881978 2881978 G C SNP ZG16B ENST00000382280 human ensembl 70_37 +1 known missense c.445 p.D149H 0.000 superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin - no_errors ZG16B HGNC ENSG00000162078 42 22 34.38 32 0 0.00 ZGLP1 100125288 genome.wustl.edu 37 19 10416086 10416086 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 10416086 10416086 G C SNP ZGLP1 ENST00000403903 human ensembl 70_37 -1 known silent c.678 p.L226 0.997 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors ZGLP1 HGNC ENSG00000220201 24 12 33.33 48 0 0.00 ZGPAT 84619 genome.wustl.edu 37 20 62340158 62340158 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 62340158 62340158 G A SNP ZGPAT ENST00000328969 human ensembl 70_37 +1 known missense c.226 p.D76N 0.028 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 29 9 23.68 32 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124266326 124266326 + Nonsense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124266326 124266326 T A SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known nonsense c.1861 p.K621* 1.000 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 9 5 35.71 14 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124266335 124266335 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124266335 124266335 C G SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known missense c.1852 p.E618Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 12 5 29.41 14 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124267638 124267638 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124267638 124267638 G C SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known missense c.549 p.I183M 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 129 45 25.71 205 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124267821 124267821 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124267821 124267821 C G SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 14 4 22.22 28 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124268338 124268338 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124268338 124268338 C A SNP ZHX1 ENST00000522595 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZHX1 HGNC ENSG00000165156 26 6 18.75 56 0 0.00 ZHX1 11244 genome.wustl.edu 37 8 124279616 124279616 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 124279616 124279616 T C SNP ZHX1 ENST00000480132 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZHX1 HGNC ENSG00000165156 3 4 57.14 13 0 0.00 ZHX2 22882 genome.wustl.edu 37 8 123964315 123964315 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 123964315 123964315 C T SNP ZHX2 ENST00000314393 human ensembl 70_37 +1 known missense c.565 p.P189S 0.386 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 16 3 15.79 13 0 0.00 ZHX2 22882 genome.wustl.edu 37 8 123966102 123966102 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 123966102 123966102 G A SNP ZHX2 ENST00000314393 human ensembl 70_37 +1 known silent c.2352 p.E784 0.967 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 33 9 21.43 35 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39831522 39831522 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 39831522 39831522 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.2035 p.A679T 0.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 41 27 39.13 62 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39831549 39831549 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 39831549 39831549 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.2008 p.E670K 0.998 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 38 27 41.54 70 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39831588 39831588 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 20 39831588 39831588 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.1969 p.D657N 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 24 27 52.94 56 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39831615 39831615 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 39831615 39831615 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.1942 p.E648K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 47 7 12.96 43 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39832617 39832617 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 39832617 39832617 C G SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.940 p.D314H 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 38 24 38.71 71 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39832662 39832662 + Missense_Mutation SNP C C A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 39832662 39832662 C A SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.895 p.V299L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 86 22 20.37 155 0 0.00 ZHX3 23051 genome.wustl.edu 37 20 39832880 39832880 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 39832880 39832880 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.677 p.R226K 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 89 14 13.46 53 0 0.00 ZIC1 7545 genome.wustl.edu 37 3 147128259 147128259 + Silent SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 147128259 147128259 C G SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known silent c.360 p.L120 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 56 9 13.85 33 0 0.00 ZIC1 7545 genome.wustl.edu 37 3 147128284 147128284 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 3 147128284 147128284 G A SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known missense c.385 p.G129R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 53 17 24.29 50 0 0.00 ZIC1 7545 genome.wustl.edu 37 3 147128760 147128760 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 147128760 147128760 C T SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known silent c.861 p.Y287 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 61 16 20.78 65 0 0.00 ZIC1 7545 genome.wustl.edu 37 3 147130364 147130364 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 147130364 147130364 G A SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known missense c.1042 p.D348N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 98 18 15.52 67 0 0.00 ZIC1 7545 genome.wustl.edu 37 3 147131190 147131190 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 3 147131190 147131190 C T SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known missense c.1196 p.S399F 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 45 11 19.64 55 0 0.00 ZIC2 7546 genome.wustl.edu 37 13 100637226 100637226 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 13 100637226 100637226 G C SNP ZIC2 ENST00000376335 human ensembl 70_37 +1 known missense c.1102 p.E368Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 53 19 26.39 60 0 0.00 ZIC2 7546 genome.wustl.edu 37 13 100637349 100637349 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 100637349 100637349 C T SNP ZIC2 ENST00000376335 human ensembl 70_37 +1 known missense c.1225 p.R409W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 24 22 47.83 55 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136649493 136649493 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 X 136649493 136649493 C T SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known nonsense c.643 p.Q215* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 84 29 25.66 106 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136649738 136649738 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136649738 136649738 C T SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known silent c.888 p.V296 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 56 17 23.29 85 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136649777 136649777 + Missense_Mutation SNP C C G TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 X 136649777 136649777 C G SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known missense c.927 p.F309L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 65 9 12.16 74 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136649777 136649777 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136649777 136649777 C T SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 45 13 21.67 93 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136649872 136649872 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 X 136649872 136649872 G A SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known missense c.1022 p.R341H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 127 38 22.89 175 0 0.00 ZIC3 7547 genome.wustl.edu 37 X 136659320 136659320 + Missense_Mutation SNP G G A TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 X 136659320 136659320 G A SNP ZIC3 ENST00000370606 human ensembl 70_37 +1 known missense c.1264 p.D422N 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 104 50 32.47 90 0 0.00 ZIC4 84107 genome.wustl.edu 37 3 147106079 147106079 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 147106079 147106079 C T SNP ZIC4 ENST00000472749 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 21 10 32.26 24 0 0.00 ZIC4 84107 genome.wustl.edu 37 3 147106138 147106138 + RNA SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 3 147106138 147106138 C T SNP ZIC4 ENST00000472749 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 25 7 21.88 38 0 0.00 ZIC4 84107 genome.wustl.edu 37 3 147113918 147113918 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 147113918 147113918 C T SNP ZIC4 ENST00000525172 human ensembl 70_37 -1 known missense c.559 p.G187S 0.053 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 20 17 45.95 23 0 0.00 ZIC4 84107 genome.wustl.edu 37 3 147121823 147121823 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 147121823 147121823 C T SNP ZIC4 ENST00000525172 human ensembl 70_37 -1 known silent c.63 p.R21 0.638 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 17 18 51.43 52 0 0.00 ZIC5 85416 genome.wustl.edu 37 13 100622612 100622612 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 100622612 100622612 C T SNP ZIC5 ENST00000267294 human ensembl 70_37 -1 novel missense c.1318 p.E440K 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 33 10 23.26 26 0 0.00 ZIC5 85416 genome.wustl.edu 37 13 100622636 100622636 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 13 100622636 100622636 A T SNP ZIC5 ENST00000267294 human ensembl 70_37 -1 novel missense c.1294 p.S432T 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 148 27 15.43 44 0 0.00 ZIK1 284307 genome.wustl.edu 37 19 58101681 58101681 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 58101681 58101681 C T SNP ZIK1 ENST00000597850 human ensembl 70_37 +1 known missense c.502 p.R168C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIK1 HGNC ENSG00000171649 36 10 21.74 25 0 0.00 ZIM2 23619 genome.wustl.edu 37 19 57293339 57293339 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 57293339 57293339 G A SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known missense c.628 p.R210W 0.209 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 43 23 34.85 65 0 0.00 ZIM2 23619 genome.wustl.edu 37 19 57293432 57293432 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 57293432 57293432 C T SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known missense c.535 p.E179K 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 155 37 19.17 242 0 0.00 ZIM2 23619 genome.wustl.edu 37 19 57301275 57301275 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 57301275 57301275 C T SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known missense c.442 p.E148K 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 21 4 16.00 12 0 0.00 ZKSCAN1 7586 genome.wustl.edu 37 7 99621384 99621384 + Silent SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 7 99621384 99621384 G T SNP ZKSCAN1 ENST00000324306 human ensembl 70_37 +1 known silent c.255 p.L85 0.033 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 23 4 14.81 22 0 0.00 ZKSCAN1 7586 genome.wustl.edu 37 7 99627904 99627904 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99627904 99627904 C A SNP ZKSCAN1 ENST00000324306 human ensembl 70_37 +1 known silent c.705 p.S235 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 45 5 10.00 55 0 0.00 ZKSCAN2 342357 genome.wustl.edu 37 16 25251138 25251138 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 25251138 25251138 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known nonstop c.2903 p.*968S 0.037 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 14 17 54.84 22 0 0.00 ZKSCAN2 342357 genome.wustl.edu 37 16 25251184 25251184 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 25251184 25251184 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.2857 p.E953Q 0.949 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 26 23 46.94 46 0 0.00 ZKSCAN2 342357 genome.wustl.edu 37 16 25255116 25255116 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 25255116 25255116 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.1971 p.Q657H 0.992 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 51 18 26.09 115 0 0.00 ZKSCAN2 342357 genome.wustl.edu 37 16 25255471 25255471 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 25255471 25255471 C T SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.1616 p.R539Q 0.111 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 45 32 41.56 101 1 0.98 ZKSCAN2 342357 genome.wustl.edu 37 16 25266673 25266673 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 25266673 25266673 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.440 p.G147A 0.954 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 15 7 31.82 28 0 0.00 ZKSCAN3 80317 genome.wustl.edu 37 6 28327424 28327424 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 28327424 28327424 G T SNP ZKSCAN3 ENST00000252211 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 58 10 14.71 57 0 0.00 ZKSCAN4 387032 genome.wustl.edu 37 6 28213016 28213016 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 28213016 28213016 G A SNP ZKSCAN4 ENST00000377294 human ensembl 70_37 -1 known nonsense c.1516 p.Q506* 0.922 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 34 24 41.38 42 0 0.00 ZKSCAN5 23660 genome.wustl.edu 37 7 99103863 99103863 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 99103863 99103863 G A SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.196 p.E66K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 18 43 69.35 52 0 0.00 ZKSCAN5 23660 genome.wustl.edu 37 7 99104013 99104013 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99104013 99104013 G A SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.346 p.E116K 0.023 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 39 18 31.58 48 0 0.00 ZKSCAN5 23660 genome.wustl.edu 37 7 99123897 99123897 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 99123897 99123897 C T SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.1234 p.R412W 0.937 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 44 7 13.73 92 0 0.00 ZKSCAN5 23660 genome.wustl.edu 37 7 99129642 99129642 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99129642 99129642 C T SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known nonsense c.2290 p.Q764* 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 15 10 40.00 28 0 0.00 ZMAT1 84460 genome.wustl.edu 37 X 101138741 101138741 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 101138741 101138741 T C SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.1658 p.E553G 0.999 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 42 15 26.32 71 0 0.00 ZMAT1 84460 genome.wustl.edu 37 X 101139058 101139058 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101139058 101139058 C T SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known silent c.1341 p.E447 0.516 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 34 10 22.73 44 0 0.00 ZMAT1 84460 genome.wustl.edu 37 X 101139182 101139182 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c X 101139182 101139182 C G SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.1217 p.R406T 0.998 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 73 13 15.12 46 0 0.00 ZMAT1 84460 genome.wustl.edu 37 X 101139637 101139637 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 101139637 101139637 T A SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.762 p.R254S 0.000 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 42 12 22.22 34 0 0.00 ZMAT1 84460 genome.wustl.edu 37 X 101141647 101141647 + Missense_Mutation SNP C C A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 X 101141647 101141647 C A SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.562 p.D188Y 1.000 smart_Znf_U1,smart_Znf_C2H2-like superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 88 11 11.00 81 0 0.00 ZMAT4 79698 genome.wustl.edu 37 8 40532227 40532227 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 40532227 40532227 C T SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known silent c.573 p.L191 0.885 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 31 11 26.19 33 0 0.00 ZMAT4 79698 genome.wustl.edu 37 8 40532227 40532227 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 8 40532227 40532227 C T SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known silent c.573 p.L191 0.885 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 32 8 20.00 189 0 0.00 ZMAT4 79698 genome.wustl.edu 37 8 40554830 40554830 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 8 40554830 40554830 G C SNP ZMAT4 ENST00000297737 human ensembl 70_37 -1 known missense c.283 p.Q95E 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 38 40 51.28 61 0 0.00 ZMIZ1 57178 genome.wustl.edu 37 10 81070690 81070690 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 81070690 81070690 G A SNP ZMIZ1 ENST00000334512 human ensembl 70_37 +1 known missense c.2845 p.A949T 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 5 63 91.30 70 0 0.00 ZMIZ1 57178 genome.wustl.edu 37 10 81070929 81070929 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 81070929 81070929 G A SNP ZMIZ1 ENST00000334512 human ensembl 70_37 +1 known silent c.3084 p.E1028 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 47 20 29.41 71 0 0.00 ZMIZ2 83637 genome.wustl.edu 37 7 44796622 44796622 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 44796622 44796622 C T SNP ZMIZ2 ENST00000309315 human ensembl 70_37 +1 known missense c.242 p.S81F 0.676 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 43 33 43.42 50 0 0.00 ZMIZ2 83637 genome.wustl.edu 37 7 44804562 44804562 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 44804562 44804562 C T SNP ZMIZ2 ENST00000309315 human ensembl 70_37 +1 known silent c.1951 p.L651 1.000 pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 42 43 50.59 37 0 0.00 ZMPSTE24 10269 genome.wustl.edu 37 1 40723960 40723960 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 40723960 40723960 C A SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known nonsense c.17 p.S6* 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 29 7 19.44 39 0 0.00 ZMPSTE24 10269 genome.wustl.edu 37 1 40726594 40726594 + Silent SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 40726594 40726594 C G SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known silent c.207 p.L69 0.939 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 171 52 23.21 202 0 0.00 ZMPSTE24 10269 genome.wustl.edu 37 1 40737688 40737688 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40737688 40737688 G A SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known silent c.750 p.T250 0.943 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 35 27 43.55 80 0 0.00 ZMYM1 79830 genome.wustl.edu 37 1 35579238 35579238 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 35579238 35579238 C T SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known nonsense c.1807 p.R603* 0.071 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ENSG00000197056 15 14 48.28 39 0 0.00 ZMYM1 79830 genome.wustl.edu 37 1 35579239 35579239 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 35579239 35579239 G A SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known missense c.1808 p.R603Q 0.018 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ENSG00000197056 48 35 42.17 32 0 0.00 ZMYM1 79830 genome.wustl.edu 37 1 35579239 35579239 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 35579239 35579239 G A SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known missense c.1808 p.R603Q 0.018 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ENSG00000197056 83 59 41.26 85 0 0.00 ZMYM2 7750 genome.wustl.edu 37 13 20567387 20567387 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 20567387 20567387 G A SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.175 p.D59N 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 20 7 25.93 43 0 0.00 ZMYM2 7750 genome.wustl.edu 37 13 20633604 20633604 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 20633604 20633604 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2641 p.E881Q 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 61 20 24.69 56 0 0.00 ZMYM2 7750 genome.wustl.edu 37 13 20637063 20637063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 13 20637063 20637063 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2989 p.D997H 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 12 3 20.00 25 0 0.00 ZMYM2 7750 genome.wustl.edu 37 13 20637063 20637063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 13 20637063 20637063 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2989 p.D997H 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 52 16 23.53 40 0 0.00 ZMYM2 7750 genome.wustl.edu 37 13 20641000 20641000 + Missense_Mutation SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 13 20641000 20641000 A G SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.3142 p.R1048G 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 39 11 22.00 51 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70461085 70461085 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 70461085 70461085 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known silent c.3918 p.L1306 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 74 11 12.94 97 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70468078 70468078 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 70468078 70468078 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.1915 p.R639W 1.000 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 59 46 43.81 68 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70469443 70469443 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 70469443 70469443 C G SNP ZMYM3 ENST00000373978 human ensembl 70_37 -1 known nonstop c.1049 p.*350S 1.000 NULL NULL - no_errors ZMYM3 HGNC ENSG00000147130 51 13 20.31 40 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70470478 70470478 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 70470478 70470478 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.883 p.R295C 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 31 17 35.42 37 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70472920 70472920 + Silent SNP G G T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 70472920 70472920 G T SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known silent c.186 p.T62 0.987 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 29 9 23.68 43 0 0.00 ZMYM3 9203 genome.wustl.edu 37 X 70473060 70473060 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70473060 70473060 G T SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.46 p.P16T 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 13 12 48.00 31 0 0.00 ZMYM4 9202 genome.wustl.edu 37 1 35853072 35853072 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 35853072 35853072 C T SNP ZMYM4 ENST00000314607 human ensembl 70_37 +1 known silent c.2130 p.F710 1.000 pfam_Znf_MYM,smart_TRASH pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 46 15 24.59 33 0 0.00 ZMYM6 9204 genome.wustl.edu 37 1 35454253 35454253 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 35454253 35454253 T A SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known missense c.2430 p.E810D 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ENSG00000163867 24 18 42.86 20 0 0.00 ZMYM6 9204 genome.wustl.edu 37 1 35454317 35454317 + Missense_Mutation SNP A A C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 35454317 35454317 A C SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known missense c.2366 p.L789W 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ENSG00000163867 19 8 29.63 24 0 0.00 ZMYM6 9204 genome.wustl.edu 37 1 35469541 35469541 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 35469541 35469541 C G SNP ZMYM6 ENST00000466345 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZMYM6 HGNC ENSG00000163867 18 15 45.45 31 0 0.00 ZMYM6 9204 genome.wustl.edu 37 1 35496238 35496238 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 35496238 35496238 C G SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ENSG00000163867 74 9 10.84 50 0 0.00 ZMYND10 51364 genome.wustl.edu 37 3 50379941 50379941 + Missense_Mutation SNP T T C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 3 50379941 50379941 T C SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known missense c.760 p.K254E 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 36 10 21.74 56 0 0.00 ZMYND10 51364 genome.wustl.edu 37 3 50380604 50380604 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 50380604 50380604 C G SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known missense c.544 p.E182Q 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 30 19 38.78 36 0 0.00 ZMYND10 51364 genome.wustl.edu 37 3 50380767 50380767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 50380767 50380767 C T SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known missense c.481 p.E161K 0.001 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 27 8 22.86 19 0 0.00 ZMYND10 51364 genome.wustl.edu 37 3 50382636 50382636 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 50382636 50382636 C T SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known silent c.120 p.E40 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 57 10 14.93 54 0 0.00 ZMYND11 10771 genome.wustl.edu 37 10 267251 267251 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 267251 267251 C G SNP ZMYND11 ENST00000381591 human ensembl 70_37 +1 known missense c.393 p.F131L 1.000 superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 71 38 34.86 140 0 0.00 ZMYND11 10771 genome.wustl.edu 37 10 286010 286010 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 286010 286010 G T SNP ZMYND11 ENST00000381591 human ensembl 70_37 +1 known missense c.712 p.A238S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 25 4 13.79 35 0 0.00 ZMYND12 84217 genome.wustl.edu 37 1 42898673 42898673 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 42898673 42898673 C T SNP ZMYND12 ENST00000475426 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND12 HGNC ENSG00000066185 6 7 53.85 24 0 0.00 ZMYND15 84225 genome.wustl.edu 37 17 4647739 4647739 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4647739 4647739 G A SNP ZMYND15 ENST00000433935 human ensembl 70_37 +1 known missense c.1660 p.E554K 0.998 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 8 6 42.86 37 0 0.00 ZMYND15 84225 genome.wustl.edu 37 17 4649284 4649284 + Nonstop_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4649284 4649284 G C SNP ZMYND15 ENST00000433935 human ensembl 70_37 +1 known nonstop c.2228 p.*743S 0.937 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 102 36 26.09 107 0 0.00 ZMYND8 23613 genome.wustl.edu 37 20 45853105 45853105 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 45853105 45853105 C T SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.3142 p.E1048K 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 32 20 38.46 49 0 0.00 ZMYND8 23613 genome.wustl.edu 37 20 45855964 45855964 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45855964 45855964 C T SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.3019 p.E1007K 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 27 21 43.75 68 0 0.00 ZMYND8 23613 genome.wustl.edu 37 20 45923508 45923508 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 45923508 45923508 C G SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.490 p.E164Q 1.000 superfamily_Bromodomain,superfamily_Znf_FYVE_PHD pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 64 21 24.71 83 0 0.00 ZNF10 7556 genome.wustl.edu 37 12 133733057 133733057 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 133733057 133733057 G A SNP ZNF10 ENST00000248211 human ensembl 70_37 +1 known missense c.1225 p.E409K 0.594 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF10 HGNC ENSG00000256223 25 39 60.94 53 0 0.00 ZNF100 163227 genome.wustl.edu 37 19 21909817 21909817 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 21909817 21909817 C G SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.1297 p.E433Q 0.043 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ENSG00000197020 32 19 37.25 56 0 0.00 ZNF100 163227 genome.wustl.edu 37 19 21910630 21910630 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 21910630 21910630 C T SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.484 p.D162N 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ENSG00000197020 108 28 20.59 153 0 0.00 ZNF100 163227 genome.wustl.edu 37 19 21910654 21910654 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 21910654 21910654 C T SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.460 p.E154K 0.034 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ENSG00000197020 71 41 36.61 212 0 0.00 ZNF101 94039 genome.wustl.edu 37 19 19788738 19788738 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 19788738 19788738 T C SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known silent c.69 p.P23 0.808 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ENSG00000181896 56 47 45.63 108 0 0.00 ZNF101 94039 genome.wustl.edu 37 19 19790233 19790233 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 19790233 19790233 A G SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known silent c.435 p.Q145 0.024 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ENSG00000181896 13 4 23.53 12 0 0.00 ZNF101 94039 genome.wustl.edu 37 19 19790321 19790321 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 19790321 19790321 G A SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known missense c.523 p.G175R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ENSG00000181896 22 8 25.81 18 0 0.00 ZNF107 51427 genome.wustl.edu 37 7 64168019 64168019 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 64168019 64168019 A G SNP ZNF107 ENST00000344930 human ensembl 70_37 +1 known missense c.1337 p.D446G 0.987 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 89 13 12.75 31 0 0.00 ZNF107 51427 genome.wustl.edu 37 7 64168022 64168022 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 64168022 64168022 G A SNP ZNF107 ENST00000344930 human ensembl 70_37 +1 known missense c.1340 p.R447K 0.891 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 84 13 13.40 31 0 0.00 ZNF107 51427 genome.wustl.edu 37 7 64168637 64168637 + Missense_Mutation SNP A A C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 64168637 64168637 A C SNP ZNF107 ENST00000344930 human ensembl 70_37 +1 known missense c.1955 p.N652T 0.339 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 89 14 13.59 26 0 0.00 ZNF107 51427 genome.wustl.edu 37 7 64168681 64168681 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 64168681 64168681 A G SNP ZNF107 ENST00000344930 human ensembl 70_37 +1 known missense c.1999 p.K667E 0.104 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 117 14 10.69 30 0 0.00 ZNF114 163071 genome.wustl.edu 37 19 48789654 48789654 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48789654 48789654 G A SNP ZNF114 ENST00000315849 human ensembl 70_37 +1 known missense c.773 p.R258K 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 4 11 68.75 21 0 0.00 ZNF114 163071 genome.wustl.edu 37 19 48789971 48789971 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48789971 48789971 G A SNP ZNF114 ENST00000315849 human ensembl 70_37 +1 known missense c.1090 p.E364K 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 13 7 33.33 13 0 0.00 ZNF117 51351 genome.wustl.edu 37 7 64439463 64439463 + Silent SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 64439463 64439463 T C SNP ZNF117 ENST00000282869 human ensembl 70_37 -1 known silent c.486 p.E162 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 98 13 11.71 40 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6730664 6730664 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 6730664 6730664 C G SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 63 9 12.50 49 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6730895 6730895 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6730895 6730895 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1678 p.Q560E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 25 24 48.98 43 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6731026 6731026 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6731026 6731026 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1547 p.S516* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 23 29 55.77 52 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6731056 6731056 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6731056 6731056 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1517 p.S506* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 28 31 52.54 56 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6731192 6731192 + Nonsense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 6731192 6731192 C A SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1381 p.G461* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 30 4 11.76 25 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6731194 6731194 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 6731194 6731194 G A SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1379 p.S460L 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 35 8 18.18 48 0 0.00 ZNF12 7559 genome.wustl.edu 37 7 6732156 6732156 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6732156 6732156 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known silent c.417 p.L139 0.980 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 26 31 54.39 76 0 0.00 ZNF121 7675 genome.wustl.edu 37 19 9676775 9676775 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9676775 9676775 T G SNP ZNF121 ENST00000320451 human ensembl 70_37 -1 known missense c.1014 p.K338N 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 17 8 32.00 34 0 0.00 ZNF131 7690 genome.wustl.edu 37 5 43161601 43161601 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 43161601 43161601 G A SNP ZNF131 ENST00000399534 human ensembl 70_37 +1 known missense c.622 p.D208N 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 29 21 42.00 41 0 0.00 ZNF131 7690 genome.wustl.edu 37 5 43174963 43174963 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 43174963 43174963 G C SNP ZNF131 ENST00000399534 human ensembl 70_37 +1 known missense c.1600 p.E534Q 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 17 9 34.62 27 0 0.00 ZNF132 7691 genome.wustl.edu 37 19 58945830 58945830 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58945830 58945830 G A SNP ZNF132 ENST00000254166 human ensembl 70_37 -1 known silent c.981 p.T327 0.021 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 42 23 34.85 48 0 0.00 ZNF132 7691 genome.wustl.edu 37 19 58948493 58948493 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58948493 58948493 C T SNP ZNF132 ENST00000254166 human ensembl 70_37 -1 known silent c.153 p.E51 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 63 27 30.00 59 0 0.00 ZNF133 7692 genome.wustl.edu 37 20 18295839 18295839 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 18295839 18295839 G C SNP ZNF133 ENST00000396026 human ensembl 70_37 +1 known missense c.353 p.G118A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 24 13 35.14 34 0 0.00 ZNF133 7692 genome.wustl.edu 37 20 18296266 18296266 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 18296266 18296266 C T SNP ZNF133 ENST00000396026 human ensembl 70_37 +1 known silent c.780 p.L260 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 11 12 52.17 14 0 0.00 ZNF133 7692 genome.wustl.edu 37 20 18297521 18297521 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 18297521 18297521 G C SNP ZNF133 ENST00000462170 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors ZNF133 HGNC ENSG00000125846 19 51 72.86 103 0 0.00 ZNF133 7692 genome.wustl.edu 37 20 18297585 18297585 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 18297585 18297585 C T SNP ZNF133 ENST00000462170 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors ZNF133 HGNC ENSG00000125846 43 45 51.14 111 0 0.00 ZNF134 7693 genome.wustl.edu 37 19 58131551 58131551 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58131551 58131551 G A SNP ZNF134 ENST00000396161 human ensembl 70_37 +1 known missense c.64 p.E22K 0.283 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 53 9 14.52 52 0 0.00 ZNF134 7693 genome.wustl.edu 37 19 58132365 58132365 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 58132365 58132365 G T SNP ZNF134 ENST00000396161 human ensembl 70_37 +1 known missense c.878 p.C293F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 27 4 12.90 26 0 0.00 ZNF135 7694 genome.wustl.edu 37 19 58578900 58578900 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 58578900 58578900 G C SNP ZNF135 ENST00000401053 human ensembl 70_37 +1 known missense c.1120 p.G374R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 41 56 57.73 35 0 0.00 ZNF136 7695 genome.wustl.edu 37 19 12297438 12297438 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12297438 12297438 G A SNP ZNF136 ENST00000343979 human ensembl 70_37 +1 known missense c.245 p.G82E 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 21 16 43.24 14 0 0.00 ZNF136 7695 genome.wustl.edu 37 19 12298265 12298265 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 12298265 12298265 C G SNP ZNF136 ENST00000343979 human ensembl 70_37 +1 known missense c.1072 p.H358D 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 35 13 27.08 33 0 0.00 ZNF138 7697 genome.wustl.edu 37 7 64292514 64292514 + Missense_Mutation SNP G G C TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8560d2cc-c862-4f4a-8b06-c2f4bcd6a0ac 7d05a76b-1885-47d5-a8b3-08b2a1b401b4 7 64292514 64292514 G C SNP ZNF138 ENST00000359735 human ensembl 70_37 +1 known missense c.723 p.Q241H 0.266 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF138 HGNC ENSG00000197008 47 16 25.00 53 0 0.00 ZNF14 7561 genome.wustl.edu 37 19 19822274 19822274 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 19822274 19822274 C T SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.1816 p.E606K 0.927 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 55 17 23.61 108 0 0.00 ZNF14 7561 genome.wustl.edu 37 19 19822546 19822546 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19822546 19822546 G C SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known nonsense c.1544 p.S515* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 34 18 34.62 73 0 0.00 ZNF14 7561 genome.wustl.edu 37 19 19823160 19823160 + Silent SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 19823160 19823160 T C SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known silent c.930 p.K310 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 38 5 11.36 29 0 0.00 ZNF14 7561 genome.wustl.edu 37 19 19823848 19823848 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 19823848 19823848 C G SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.242 p.G81A 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 88 51 36.69 227 0 0.00 ZNF14 7561 genome.wustl.edu 37 19 19825240 19825240 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 19825240 19825240 C G SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.60 p.L20F 0.060 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 44 32 42.11 119 0 0.00 ZNF141 7700 genome.wustl.edu 37 4 367245 367245 + Missense_Mutation SNP C C A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 367245 367245 C A SNP ZNF141 ENST00000240499 human ensembl 70_37 +1 known missense c.1019 p.T340K 0.034 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF141 HGNC ENSG00000131127 151 18 10.59 60 0 0.00 ZNF142 7701 genome.wustl.edu 37 2 219503090 219503090 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 219503090 219503090 G A SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.5036 p.A1679V 0.441 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 23 4 14.81 36 0 0.00 ZNF142 7701 genome.wustl.edu 37 2 219513523 219513523 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219513523 219513523 C T SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.1108 p.E370K 0.975 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 34 21 38.18 59 0 0.00 ZNF142 7701 genome.wustl.edu 37 2 219515149 219515149 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219515149 219515149 C G SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.381 p.E127D 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 47 32 40.51 44 0 0.00 ZNF143 7702 genome.wustl.edu 37 11 9494253 9494253 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 9494253 9494253 G A SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.142 p.V48I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 62 45 41.67 115 0 0.00 ZNF143 7702 genome.wustl.edu 37 11 9495505 9495505 + Missense_Mutation SNP G G T TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 11 9495505 9495505 G T SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.223 p.G75C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 33 4 10.81 74 0 0.00 ZNF143 7702 genome.wustl.edu 37 11 9496112 9496112 + Missense_Mutation SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 11 9496112 9496112 G T SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.305 p.R102L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 19 11 36.67 31 0 0.00 ZNF143 7702 genome.wustl.edu 37 11 9516301 9516301 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 9516301 9516301 C T SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.754 p.H252Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 3 11 78.57 37 0 0.00 ZNF146 7705 genome.wustl.edu 37 19 36728009 36728009 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 36728009 36728009 C T SNP ZNF146 ENST00000443387 human ensembl 70_37 +1 known nonsense c.667 p.Q223* 0.543 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF146 HGNC ENSG00000167635 68 11 13.92 56 0 0.00 ZNF148 7707 genome.wustl.edu 37 3 124951197 124951197 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 124951197 124951197 C G SNP ZNF148 ENST00000360647 human ensembl 70_37 -1 known missense c.2373 p.Q791H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 115 21 15.33 68 0 0.00 ZNF148 7707 genome.wustl.edu 37 3 124951901 124951901 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 124951901 124951901 C T SNP ZNF148 ENST00000360647 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 226 32 12.40 201 0 0.00 ZNF154 7710 genome.wustl.edu 37 19 58214145 58214145 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 58214145 58214145 G A SNP ZNF154 ENST00000426889 human ensembl 70_37 -1 known nonsense c.172 p.Q58* 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF154 HGNC ENSG00000179909 58 19 24.68 52 0 0.00 ZNF154 7710 genome.wustl.edu 37 19 58216246 58216246 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 58216246 58216246 C G SNP ZNF154 ENST00000426889 human ensembl 70_37 -1 known missense c.135 p.E45D 0.993 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF154 HGNC ENSG00000179909 63 43 40.57 129 0 0.00 ZNF155 7711 genome.wustl.edu 37 19 44500376 44500376 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 44500376 44500376 C T SNP ZNF155 ENST00000270014 human ensembl 70_37 +1 known nonsense c.367 p.Q123* 0.011 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ENSG00000204920 29 4 12.12 57 0 0.00 ZNF155 7711 genome.wustl.edu 37 19 44500677 44500677 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 44500677 44500677 A T SNP ZNF155 ENST00000270014 human ensembl 70_37 +1 known missense c.668 p.Q223L 0.947 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ENSG00000204920 93 14 13.08 123 1 0.81 ZNF157 7712 genome.wustl.edu 37 X 47269681 47269681 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 47269681 47269681 G A SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.79 p.V27M 0.377 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 78 13 14.29 152 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47270144 47270144 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 47270144 47270144 G C SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.265 p.E89Q 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 19 13 40.62 70 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47272077 47272077 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47272077 47272077 G C SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.605 p.R202T 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 19 12 37.50 43 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47272358 47272358 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 47272358 47272358 C G SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.886 p.H296D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 13 7 35.00 21 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47272385 47272385 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47272385 47272385 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.913 p.G305W 0.013 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 20 4 16.67 43 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47272495 47272495 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd X 47272495 47272495 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.1023 p.M341I 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 38 11 22.45 48 0 0.00 ZNF157 7712 genome.wustl.edu 37 X 47272521 47272521 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47272521 47272521 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.1049 p.R350I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 11 11 50.00 21 0 0.00 ZNF16 7564 genome.wustl.edu 37 8 146156819 146156819 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 146156819 146156819 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.1354 p.R452W 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 12 3 20.00 32 0 0.00 ZNF16 7564 genome.wustl.edu 37 8 146156819 146156819 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 146156819 146156819 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.1354 p.R452W 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 92 11 10.68 47 0 0.00 ZNF16 7564 genome.wustl.edu 37 8 146157398 146157398 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146157398 146157398 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.775 p.H259Y 0.030 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 22 30 57.69 27 0 0.00 ZNF16 7564 genome.wustl.edu 37 8 146157669 146157669 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 146157669 146157669 C T SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known silent c.504 p.L168 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 61 14 18.67 69 0 0.00 ZNF160 90338 genome.wustl.edu 37 19 53571415 53571415 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 53571415 53571415 C T SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.2372 p.C791Y 0.909 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 35 28 44.44 100 0 0.00 ZNF160 90338 genome.wustl.edu 37 19 53571571 53571571 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53571571 53571571 C T SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.2216 p.G739D 0.928 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 37 18 32.73 44 0 0.00 ZNF160 90338 genome.wustl.edu 37 19 53573149 53573149 + Missense_Mutation SNP T T C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 53573149 53573149 T C SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.638 p.N213S 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 25 13 34.21 48 0 0.00 ZNF160 90338 genome.wustl.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 53589517 53589517 G C SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.602 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 72 8 10.00 80 0 0.00 ZNF165 7718 genome.wustl.edu 37 6 28053437 28053437 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 28053437 28053437 C G SNP ZNF165 ENST00000377325 human ensembl 70_37 +1 known missense c.179 p.S60C 0.064 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 22 14 38.89 31 0 0.00 ZNF169 169841 genome.wustl.edu 37 9 97054889 97054890 + RNA INS - - G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 97054889 97054890 - G INS ZNF169 ENST00000492115 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.006 - - - no_errors ZNF169 HGNC ENSG00000175787 4 2 33.33 9 0 0.00 ZNF169 169841 genome.wustl.edu 37 9 97055557 97055557 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 97055557 97055557 C G SNP ZNF169 ENST00000481550 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF169 HGNC ENSG00000175787 13 11 45.83 24 0 0.00 ZNF169 169841 genome.wustl.edu 37 9 97062305 97062305 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 9 97062305 97062305 G C SNP ZNF169 ENST00000395395 human ensembl 70_37 +1 known missense c.465 p.K155N 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 10 9 47.37 26 0 0.00 ZNF169 169841 genome.wustl.edu 37 9 97062636 97062636 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 97062636 97062636 G C SNP ZNF169 ENST00000395395 human ensembl 70_37 +1 known missense c.796 p.E266Q 0.318 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 36 6 14.29 62 0 0.00 ZNF169 169841 genome.wustl.edu 37 9 97062730 97062730 + Missense_Mutation SNP G G A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 9 97062730 97062730 G A SNP ZNF169 ENST00000395395 human ensembl 70_37 +1 known missense c.890 p.R297Q 0.030 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 25 4 13.33 31 0 0.00 ZNF17 7565 genome.wustl.edu 37 19 57931647 57931647 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57931647 57931647 C G SNP ZNF17 ENST00000601808 human ensembl 70_37 +1 known missense c.787 p.Q263E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 41 24 36.92 34 0 0.00 ZNF174 7727 genome.wustl.edu 37 16 3452170 3452170 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 3452170 3452170 G C SNP ZNF174 ENST00000268655 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.996 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 19 18 48.65 43 0 0.00 ZNF175 7728 genome.wustl.edu 37 19 52084764 52084764 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 52084764 52084764 G A SNP ZNF175 ENST00000262259 human ensembl 70_37 +1 known missense c.193 p.A65T 0.091 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF175 HGNC ENSG00000105497 67 23 25.56 94 0 0.00 ZNF177 7730 genome.wustl.edu 37 19 9491580 9491580 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 9491580 9491580 C T SNP ZNF177 ENST00000434737 human ensembl 70_37 +1 known silent c.573 p.L191 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 41 8 16.33 34 0 0.00 ZNF177 7730 genome.wustl.edu 37 19 9491916 9491916 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 9491916 9491916 G A SNP ZNF177 ENST00000434737 human ensembl 70_37 +1 known missense c.909 p.M303I 0.244 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 11 4 26.67 43 0 0.00 ZNF18 7566 genome.wustl.edu 37 17 11881615 11881615 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 11881615 11881615 G A SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known nonsense c.1309 p.Q437* 0.598 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 35 15 30.00 39 0 0.00 ZNF18 7566 genome.wustl.edu 37 17 11881897 11881897 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 11881897 11881897 G C SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known missense c.1027 p.L343V 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 72 14 16.28 63 0 0.00 ZNF18 7566 genome.wustl.edu 37 17 11881927 11881927 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 11881927 11881927 C G SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known missense c.997 p.E333Q 0.067 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 48 11 18.64 35 0 0.00 ZNF18 7566 genome.wustl.edu 37 17 11895970 11895970 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 11895970 11895970 C T SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known silent c.177 p.L59 0.975 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 40 14 25.93 61 0 0.00 ZNF180 7733 genome.wustl.edu 37 19 44980766 44980766 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 44980766 44980766 C G SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known missense c.1932 p.L644F 0.055 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 90 15 14.29 52 0 0.00 ZNF180 7733 genome.wustl.edu 37 19 44981496 44981496 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44981496 44981496 C A SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known missense c.1202 p.R401I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 13 13 50.00 33 0 0.00 ZNF180 7733 genome.wustl.edu 37 19 44982160 44982160 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 44982160 44982160 G A SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known nonsense c.538 p.Q180* 0.037 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 40 17 29.82 67 0 0.00 ZNF180 7733 genome.wustl.edu 37 19 45001414 45001414 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 45001414 45001414 G A SNP ZNF180 ENST00000590088 human ensembl 70_37 -1 known missense c.59 p.S20L 0.010 NULL NULL - no_errors ZNF180 HGNC ENSG00000167384 2 4 66.67 17 0 0.00 ZNF181 339318 genome.wustl.edu 37 19 35232521 35232522 + Frame_Shift_Ins INS - - AC TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b3b3a27c-ee9a-42af-a6d1-9af5970a98b9 607f3f40-63e5-4182-b77b-2a2b11991004 19 35232521 35232522 - AC INS ZNF181 ENST00000392232 human ensembl 70_37 +1 known frame_shift_ins c.1367_1368 p.V457fs 1.000:0.861 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 92 34 26.98 105 0 0.00 ZNF182 7569 genome.wustl.edu 37 X 47835797 47835797 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 47835797 47835797 C T SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known silent c.1689 p.T563 0.745 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 41 17 29.31 75 0 0.00 ZNF182 7569 genome.wustl.edu 37 X 47836511 47836511 + Missense_Mutation SNP T T A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 47836511 47836511 T A SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.975 p.K325N 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 36 6 14.29 52 0 0.00 ZNF182 7569 genome.wustl.edu 37 X 47837064 47837064 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47837064 47837064 C G SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.422 p.G141A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 37 10 20.83 32 0 0.00 ZNF182 7569 genome.wustl.edu 37 X 47837064 47837064 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 X 47837064 47837064 C G SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.422 p.G141A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 54 9 14.29 127 0 0.00 ZNF182 7569 genome.wustl.edu 37 X 47842379 47842379 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 47842379 47842379 C T SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.259 p.E87K 0.645 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 40 26 38.81 57 0 0.00 ZNF184 7738 genome.wustl.edu 37 6 27419274 27419274 + Silent SNP A A G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 6 27419274 27419274 A G SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known silent c.2064 p.H688 0.856 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 41 26 38.81 42 0 0.00 ZNF184 7738 genome.wustl.edu 37 6 27419369 27419369 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 27419369 27419369 G A SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known silent c.1969 p.L657 0.125 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 78 21 21.00 157 0 0.00 ZNF184 7738 genome.wustl.edu 37 6 27420303 27420303 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27420303 27420303 C G SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known missense c.1035 p.Q345H 0.903 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 37 17 31.48 44 0 0.00 ZNF184 7738 genome.wustl.edu 37 6 27420477 27420477 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 27420477 27420477 G A SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known silent c.861 p.F287 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 83 44 34.65 137 0 0.00 ZNF185 7739 genome.wustl.edu 37 X 152089261 152089261 + Nonsense_Mutation SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 X 152089261 152089261 C T SNP ZNF185 ENST00000535861 human ensembl 70_37 +1 known nonsense c.622 p.Q208* 0.362 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 46 23 33.33 64 0 0.00 ZNF185 7739 genome.wustl.edu 37 X 152106656 152106656 + Missense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 152106656 152106656 G T SNP ZNF185 ENST00000535861 human ensembl 70_37 +1 known missense c.1253 p.R418M 0.215 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 18 8 30.77 18 0 0.00 ZNF189 7743 genome.wustl.edu 37 9 104170480 104170480 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 104170480 104170480 G C SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ENSG00000136870 11 7 38.89 21 0 0.00 ZNF189 7743 genome.wustl.edu 37 9 104171026 104171026 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 104171026 104171026 C T SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known nonsense c.976 p.R326* 0.970 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ENSG00000136870 13 6 31.58 23 0 0.00 ZNF189 7743 genome.wustl.edu 37 9 104171183 104171183 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 104171183 104171183 G A SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known missense c.1133 p.G378E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ENSG00000136870 51 6 10.53 51 0 0.00 ZNF19 7567 genome.wustl.edu 37 16 71509103 71509103 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 71509103 71509103 G T SNP ZNF19 ENST00000288177 human ensembl 70_37 -1 known silent c.1347 p.L449 0.140 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF19 HGNC ENSG00000157429 29 15 34.09 74 0 0.00 ZNF19 7567 genome.wustl.edu 37 16 71512831 71512831 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 71512831 71512831 G A SNP ZNF19 ENST00000288177 human ensembl 70_37 -1 known silent c.111 p.A37 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF19 HGNC ENSG00000157429 63 12 16.00 65 0 0.00 ZKSCAN8 7745 genome.wustl.edu 37 6 28120986 28120986 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 28120986 28120986 G C SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ENSG00000198315 45 24 34.78 49 0 0.00 ZKSCAN8 7745 genome.wustl.edu 37 6 28121105 28121105 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 28121105 28121105 C T SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known silent c.1047 p.P349 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ENSG00000198315 20 7 25.93 36 0 0.00 ZKSCAN8 7745 genome.wustl.edu 37 6 28121307 28121307 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 28121307 28121307 C T SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known nonsense c.1249 p.Q417* 0.956 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ENSG00000198315 41 17 29.31 49 0 0.00 ZNF192P1 651302 genome.wustl.edu 37 6 28134412 28134412 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28134412 28134412 C G SNP ZNF192P1 ENST00000440790 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF192P1 HGNC ENSG00000226314 9 8 47.06 26 0 0.00 ZSCAN9 7746 genome.wustl.edu 37 6 28194897 28194897 + Missense_Mutation SNP G G A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 6 28194897 28194897 G A SNP ZNF193 ENST00000252207 human ensembl 70_37 +1 known missense c.35 p.G12D 0.005 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF193 HGNC ENSG00000137185 24 10 28.57 66 0 0.00 ZSCAN9 7746 genome.wustl.edu 37 6 28195572 28195572 + Silent SNP C C T TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c6a1b4c-b430-4670-aa45-87deef906452 f918a9be-5c0e-413b-8a6e-c307e8b2ca48 6 28195572 28195572 C T SNP ZNF193 ENST00000252207 human ensembl 70_37 +1 known silent c.525 p.L175 0.029 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF193 HGNC ENSG00000137185 13 6 31.58 29 0 0.00 ZNF195 7748 genome.wustl.edu 37 11 3380802 3380802 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 3380802 3380802 G C SNP ZNF195 ENST00000399602 human ensembl 70_37 -1 known nonsense c.1436 p.S479* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ENSG00000005801 48 21 30.43 45 0 0.00 ZNF195 7748 genome.wustl.edu 37 11 3381540 3381540 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 3381540 3381540 C G SNP ZNF195 ENST00000399602 human ensembl 70_37 -1 known missense c.698 p.R233T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ENSG00000005801 8 26 76.47 67 0 0.00 ZNF197 10168 genome.wustl.edu 37 3 44683467 44683467 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44683467 44683467 G C SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known missense c.845 p.G282A 0.974 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 22 22 50.00 58 0 0.00 ZNF197 10168 genome.wustl.edu 37 3 44683559 44683559 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44683559 44683559 G A SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known missense c.937 p.E313K 0.007 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 23 15 38.46 72 0 0.00 ZNF197 10168 genome.wustl.edu 37 3 44685487 44685487 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 44685487 44685487 G A SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known silent c.2865 p.E955 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 29 9 23.68 30 0 0.00 ZNF2 7549 genome.wustl.edu 37 2 95847075 95847075 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 95847075 95847075 C A SNP ZNF2 ENST00000340539 human ensembl 70_37 +1 known missense c.502 p.L168I 0.025 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 31 23 42.59 72 0 0.00 ZNF2 7549 genome.wustl.edu 37 2 95847189 95847189 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 95847189 95847189 G A SNP ZNF2 ENST00000340539 human ensembl 70_37 +1 known missense c.616 p.E206K 0.733 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 37 21 36.21 55 0 0.00 ZNF20 7568 genome.wustl.edu 37 19 12246343 12246343 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 12246343 12246343 C T SNP ZNF20 ENST00000334213 human ensembl 70_37 -1 known missense c.172 p.E58K 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF20 HGNC ENSG00000132010 13 14 51.85 23 0 0.00 ZNF200 7752 genome.wustl.edu 37 16 3274470 3274470 + Nonsense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 16 3274470 3274470 G A SNP ZNF200 ENST00000414144 human ensembl 70_37 -1 known nonsense c.610 p.R204* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 157 33 17.37 202 0 0.00 ZNF202 7753 genome.wustl.edu 37 11 123599867 123599867 + Silent SNP T T C TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 123599867 123599867 T C SNP ZNF202 ENST00000336139 human ensembl 70_37 -1 known silent c.669 p.S223 0.029 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 29 4 12.12 29 0 0.00 ZNF202 7753 genome.wustl.edu 37 11 123600469 123600469 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 11 123600469 123600469 G T SNP ZNF202 ENST00000336139 human ensembl 70_37 -1 known missense c.467 p.P156H 0.019 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 12 4 25.00 26 0 0.00 ZNF202 7753 genome.wustl.edu 37 11 123601372 123601372 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 123601372 123601372 C T SNP ZNF202 ENST00000336139 human ensembl 70_37 -1 known silent c.225 p.L75 0.999 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 11 8 42.11 43 0 0.00 ZNF202 7753 genome.wustl.edu 37 11 123611150 123611150 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 123611150 123611150 A G SNP ZNF202 ENST00000525391 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors ZNF202 HGNC ENSG00000166261 16 55 77.46 23 0 0.00 ZNF205 7755 genome.wustl.edu 37 16 3165888 3165888 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3165888 3165888 G C SNP ZNF205 ENST00000219091 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 13 12 48.00 48 0 0.00 ZNF207 7756 genome.wustl.edu 37 17 30692393 30692393 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 30692393 30692393 C G SNP ZNF207 ENST00000394670 human ensembl 70_37 +1 known missense c.715 p.Q239E 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 54 12 18.18 77 0 0.00 ZNF207 7756 genome.wustl.edu 37 17 30696449 30696449 + Missense_Mutation SNP A A T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 30696449 30696449 A T SNP ZNF207 ENST00000394670 human ensembl 70_37 +1 known missense c.1300 p.M434L 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 31 21 40.38 77 0 0.00 ZNF207 7756 genome.wustl.edu 37 17 30700349 30700349 + RNA SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 30700349 30700349 T A SNP ZNF207 ENST00000584416 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF207 HGNC ENSG00000010244 20 4 16.67 19 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22115997 22115997 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 22115997 22115997 C T SNP ZNF208 ENST00000599916 human ensembl 70_37 -1 putative missense c.348 p.M116I 0.311 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 52 21 28.77 54 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22154844 22154844 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 22154844 22154844 C G SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.2992 p.E998Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 33 4 10.81 48 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22155563 22155563 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22155563 22155563 T A SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.2273 p.Y758F 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 84 12 12.50 27 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22156021 22156021 + Silent SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22156021 22156021 A T SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel silent c.1815 p.G605 0.947 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 110 19 14.62 37 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22156286 22156286 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22156286 22156286 C A SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.1550 p.R517I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 10 4 28.57 12 0 0.00 ZNF208 7757 genome.wustl.edu 37 19 22157310 22157310 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 22157310 22157310 T C SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.526 p.K176E 0.031 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 122 25 17.01 111 0 0.00 ZNF211 10520 genome.wustl.edu 37 19 58152132 58152132 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58152132 58152132 G C SNP ZNF211 ENST00000240731 human ensembl 70_37 +1 known missense c.317 p.R106T 0.001 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF211 HGNC ENSG00000121417 10 10 50.00 40 0 0.00 ZNF211 10520 genome.wustl.edu 37 19 58152932 58152932 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58152932 58152932 C T SNP ZNF211 ENST00000240731 human ensembl 70_37 +1 known missense c.1117 p.R373C 0.033 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF211 HGNC ENSG00000121417 48 17 26.15 77 0 0.00 ZNF213 7760 genome.wustl.edu 37 16 3187585 3187585 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 3187585 3187585 C A SNP ZNF213 ENST00000396878 human ensembl 70_37 +1 known missense c.304 p.Q102K 0.739 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 36 4 10.00 44 0 0.00 ZNF213 7760 genome.wustl.edu 37 16 3191192 3191192 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 3191192 3191192 G A SNP ZNF213 ENST00000396878 human ensembl 70_37 +1 known silent c.1224 p.K408 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 23 9 28.12 20 0 0.00 ZNF214 7761 genome.wustl.edu 37 11 7022556 7022556 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 7022556 7022556 C G SNP ZNF214 ENST00000278314 human ensembl 70_37 -1 known missense c.358 p.E120Q 0.013 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ENSG00000149050 43 23 34.85 44 0 0.00 ZNF214 7761 genome.wustl.edu 37 11 7022682 7022682 + Missense_Mutation SNP A A C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 7022682 7022682 A C SNP ZNF214 ENST00000278314 human ensembl 70_37 -1 known missense c.232 p.Y78D 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ENSG00000149050 49 26 34.67 57 0 0.00 ZNF215 7762 genome.wustl.edu 37 11 6953894 6953894 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 11 6953894 6953894 G C SNP ZNF215 ENST00000278319 human ensembl 70_37 +1 known missense c.391 p.E131Q 0.009 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 11 7 38.89 10 0 0.00 ZNF217 7764 genome.wustl.edu 37 20 52193406 52193406 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 20 52193406 52193406 C T SNP ZNF217 ENST00000302342 human ensembl 70_37 -1 known missense c.1897 p.E633K 0.703 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 58 11 15.94 66 0 0.00 ZNF217 7764 genome.wustl.edu 37 20 52198399 52198399 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 20 52198399 52198399 C T SNP ZNF217 ENST00000302342 human ensembl 70_37 -1 known missense c.967 p.D323N 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 126 73 36.50 60 0 0.00 ZNF219 51222 genome.wustl.edu 37 14 21559617 21559617 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 14 21559617 21559617 G C SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.1517 p.S506C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ENSG00000165804 21 7 25.00 41 0 0.00 ZNF219 51222 genome.wustl.edu 37 14 21560966 21560966 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 21560966 21560966 G A SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.490 p.R164C 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ENSG00000165804 11 8 42.11 21 0 0.00 ZNF219 51222 genome.wustl.edu 37 14 21561008 21561008 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 14 21561008 21561008 C G SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.448 p.E150Q 0.785 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ENSG00000165804 24 20 45.45 26 0 0.00 ZNF22 7570 genome.wustl.edu 37 10 45499194 45499194 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 45499194 45499194 C A SNP ZNF22 ENST00000298299 human ensembl 70_37 +1 known silent c.378 p.L126 0.961 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 22 16 42.11 41 0 0.00 ZNF221 7638 genome.wustl.edu 37 19 44470216 44470216 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 44470216 44470216 C T SNP ZNF221 ENST00000251269 human ensembl 70_37 +1 known missense c.562 p.H188Y 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 56 20 26.32 47 0 0.00 ZNF221 7638 genome.wustl.edu 37 19 44471050 44471050 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44471050 44471050 G C SNP ZNF221 ENST00000251269 human ensembl 70_37 +1 known missense c.1396 p.E466Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 63 21 24.71 51 0 0.00 ZNF222 7673 genome.wustl.edu 37 19 44536300 44536300 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44536300 44536300 C T SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.593 p.S198L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ENSG00000159885 189 34 15.25 141 0 0.00 ZNF222 7673 genome.wustl.edu 37 19 44536308 44536308 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44536308 44536308 C G SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.601 p.H201D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ENSG00000159885 193 36 15.58 134 0 0.00 ZNF222 7673 genome.wustl.edu 37 19 44536333 44536333 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 44536333 44536333 G A SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.626 p.G209E 0.955 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ENSG00000159885 51 226 81.59 91 0 0.00 ZNF222 7673 genome.wustl.edu 37 19 44537136 44537136 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 44537136 44537136 C T SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.1429 p.R477C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ENSG00000159885 30 4 11.76 50 0 0.00 ZNF223 7766 genome.wustl.edu 37 19 44571244 44571244 + Silent SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 44571244 44571244 C G SNP ZNF223 ENST00000591793 human ensembl 70_37 +1 known silent c.1593 p.L531 0.292 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_genename ENSG00000267022 34 5 12.82 25 0 0.00 ZNF224 7767 genome.wustl.edu 37 19 44610712 44610712 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44610712 44610712 G C SNP ZNF224 ENST00000336976 human ensembl 70_37 +1 known missense c.399 p.Q133H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF224 HGNC ENSG00000267680 46 15 24.59 33 0 0.00 ZNF225 7768 genome.wustl.edu 37 19 44635874 44635874 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 44635874 44635874 G A SNP ZNF225 ENST00000262894 human ensembl 70_37 +1 known silent c.1107 p.E369 0.977 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 53 22 29.33 50 0 0.00 ZNF226 7769 genome.wustl.edu 37 19 44680547 44680547 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 44680547 44680547 C T SNP ZNF226 ENST00000337433 human ensembl 70_37 +1 known missense c.1132 p.L378F 0.937 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 21 13 38.24 50 0 0.00 ZNF226 7769 genome.wustl.edu 37 19 44680964 44680964 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 44680964 44680964 C T SNP ZNF226 ENST00000337433 human ensembl 70_37 +1 known missense c.1549 p.H517Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 53 7 11.67 65 0 0.00 ZNF227 7770 genome.wustl.edu 37 19 44732432 44732432 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 44732432 44732432 G A SNP ZNF227 ENST00000589237 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF227 HGNC ENSG00000131115 40 21 34.43 42 0 0.00 ZNF227 7770 genome.wustl.edu 37 19 44740134 44740134 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 44740134 44740134 G A SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known silent c.1551 p.E517 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 52 15 22.39 67 0 0.00 ZNF227 7770 genome.wustl.edu 37 19 44740265 44740265 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 44740265 44740265 C G SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known nonsense c.1682 p.S561* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 75 15 16.67 101 0 0.00 ZNF227 7770 genome.wustl.edu 37 19 44740722 44740722 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 44740722 44740722 G A SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known silent c.2139 p.E713 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 63 7 10.00 77 0 0.00 ZNF229 7772 genome.wustl.edu 37 19 44933581 44933581 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44933581 44933581 T G SNP ZNF229 ENST00000588931 human ensembl 70_37 -1 known missense c.1375 p.K459Q 0.908 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 26 16 38.10 55 0 0.00 ZNF229 7772 genome.wustl.edu 37 19 44934110 44934110 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44934110 44934110 C T SNP ZNF229 ENST00000588931 human ensembl 70_37 -1 known silent c.846 p.P282 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 15 10 38.46 31 0 0.00 ZNF23 7571 genome.wustl.edu 37 16 71481924 71481924 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 71481924 71481924 C G SNP ZNF23 ENST00000539742 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF23 HGNC ENSG00000167377 11 7 38.89 11 0 0.00 ZNF23 7571 genome.wustl.edu 37 16 71483020 71483020 + Missense_Mutation SNP G G A TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f5472540-8feb-4027-8944-08c23ab4e912 32ce03c7-1db6-44ab-92af-7a76d5cbf14d 16 71483020 71483020 G A SNP ZNF23 ENST00000357254 human ensembl 70_37 -1 known missense c.908 p.T303I 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 19 15 44.12 62 0 0.00 ZNF23 7571 genome.wustl.edu 37 16 71483747 71483748 + Frame_Shift_Ins INS - - T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 16 71483747 71483748 - T INS ZNF23 ENST00000357254 human ensembl 70_37 -1 known frame_shift_ins c.181_180 p.E60fs 0.000:0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 43 5 10.42 32 0 0.00 ZNF230 7773 genome.wustl.edu 37 19 44514810 44514810 + Nonsense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 44514810 44514810 C T SNP ZNF230 ENST00000429154 human ensembl 70_37 +1 known nonsense c.619 p.Q207* 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF230 HGNC ENSG00000159882 49 14 22.22 19 0 0.00 ZNF232 7775 genome.wustl.edu 37 17 5009279 5009279 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 5009279 5009279 C A SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.1175 p.C392F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 36 34 48.57 30 0 0.00 ZNF232 7775 genome.wustl.edu 37 17 5009279 5009279 + Missense_Mutation SNP C C A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 17 5009279 5009279 C A SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.1175 p.C392F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 78 59 43.07 109 0 0.00 ZNF232 7775 genome.wustl.edu 37 17 5009474 5009474 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 5009474 5009474 C G SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.980 p.G327A 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 28 10 26.32 48 0 0.00 ZNF233 353355 genome.wustl.edu 37 19 44777426 44777426 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 44777426 44777426 A C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.613 p.N205H 0.019 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 20 5 20.00 38 0 0.00 ZNF233 353355 genome.wustl.edu 37 19 44777594 44777594 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 44777594 44777594 G C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.781 p.D261H 0.471 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 15 16 51.61 39 0 0.00 ZNF233 353355 genome.wustl.edu 37 19 44777789 44777789 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44777789 44777789 G A SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.976 p.G326S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 58 23 28.40 45 0 0.00 ZNF233 353355 genome.wustl.edu 37 19 44778242 44778242 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 44778242 44778242 G C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.1429 p.E477Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 76 16 17.39 111 0 0.00 ZNF234 10780 genome.wustl.edu 37 19 44660768 44660768 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 44660768 44660768 G C SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.599 p.G200A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 65 39 37.50 76 0 0.00 ZNF234 10780 genome.wustl.edu 37 19 44660812 44660812 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44660812 44660812 C G SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.643 p.Q215E 0.015 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 66 27 29.03 69 0 0.00 ZNF234 10780 genome.wustl.edu 37 19 44661172 44661172 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 44661172 44661172 C G SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.1003 p.Q335E 0.147 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 23 20 46.51 58 0 0.00 ZNF234 10780 genome.wustl.edu 37 19 44662099 44662099 + Nonsense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 44662099 44662099 C T SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known nonsense c.1930 p.R644* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 33 31 47.69 70 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74580682 74580682 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 74580682 74580682 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known silent c.399 p.Q133 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 28 13 31.71 45 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74587576 74587576 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74587576 74587576 C T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.790 p.Q264* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 22 10 31.25 35 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74593330 74593330 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 74593330 74593330 C G SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.1273 p.Q425E 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 22 8 26.67 30 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74593360 74593360 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 74593360 74593360 G T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.1303 p.E435* 0.942 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 14 8 36.36 25 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74616407 74616407 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 74616407 74616407 G C SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.1960 p.D654H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 58 18 23.68 88 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74620481 74620481 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 74620481 74620481 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.2497 p.A833T 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 85 24 22.02 103 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74637258 74637258 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 18 74637258 74637258 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.3769 p.E1257K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 16 16 50.00 34 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74637279 74637279 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 74637279 74637279 G T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.3790 p.G1264C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 35 4 10.26 32 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74639327 74639327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 74639327 74639327 C G SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.4262 p.S1421C 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 30 10 25.00 11 0 0.00 ZNF236 7776 genome.wustl.edu 37 18 74649142 74649142 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74649142 74649142 C A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.4619 p.S1540* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 68 36 34.62 134 0 0.00 ZBTB18 10472 genome.wustl.edu 37 1 244217341 244217341 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 244217341 244217341 G C SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known missense c.265 p.E89Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 23 16 41.03 31 0 0.00 ZBTB18 10472 genome.wustl.edu 37 1 244217392 244217392 + Missense_Mutation SNP G G T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 1 244217392 244217392 G T SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known missense c.316 p.V106L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 18 3 14.29 35 0 0.00 ZBTB18 10472 genome.wustl.edu 37 1 244217494 244217494 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 244217494 244217494 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 42 27 38.57 65 0 0.00 ZBTB18 10472 genome.wustl.edu 37 1 244217625 244217625 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 244217625 244217625 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known silent c.549 p.R183 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 57 63 52.50 114 0 0.00 ZBTB18 10472 genome.wustl.edu 37 1 244217802 244217802 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 244217802 244217802 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known silent c.726 p.S242 0.964 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 28 12 30.00 24 0 0.00 ZNF24 7572 genome.wustl.edu 37 18 32920460 32920460 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 18 32920460 32920460 C T SNP ZNF24 ENST00000261332 human ensembl 70_37 -1 known missense c.155 p.R52Q 0.908 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 27 11 28.95 40 0 0.00 ZNF248 57209 genome.wustl.edu 37 10 38120188 38120188 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38120188 38120188 C T SNP ZNF248 ENST00000494133 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ZNF248 HGNC ENSG00000198105 17 16 48.48 41 0 0.00 ZNF248 57209 genome.wustl.edu 37 10 38120890 38120890 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 38120890 38120890 C G SNP ZNF248 ENST00000357328 human ensembl 70_37 -1 known missense c.1393 p.E465Q 0.978 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 19 15 42.86 38 0 0.00 ZNF248 57209 genome.wustl.edu 37 10 38121767 38121767 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 10 38121767 38121767 C T SNP ZNF248 ENST00000357328 human ensembl 70_37 -1 known silent c.516 p.E172 0.993 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 29 10 25.64 58 0 0.00 ZNF25 219749 genome.wustl.edu 37 10 38242111 38242111 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 38242111 38242111 G C SNP ZNF25 ENST00000302609 human ensembl 70_37 -1 known silent c.315 p.L105 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF25 HGNC ENSG00000175395 108 23 17.56 163 0 0.00 ZNF25 219749 genome.wustl.edu 37 10 38265469 38265469 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 38265469 38265469 G C SNP ZNF25 ENST00000467975 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF25 HGNC ENSG00000175395 28 13 31.71 22 0 0.00 ZNF250 58500 genome.wustl.edu 37 8 146107136 146107136 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 146107136 146107136 C T SNP ZNF250 ENST00000292579 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.452 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 27 21 43.75 53 0 0.00 ZNF250 58500 genome.wustl.edu 37 8 146107571 146107571 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 8 146107571 146107571 G T SNP ZNF250 ENST00000292579 human ensembl 70_37 -1 known missense c.1012 p.P338T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 30 22 42.31 48 0 0.00 ZNF251 90987 genome.wustl.edu 37 8 145948193 145948193 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145948193 145948193 C G SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known silent c.852 p.R284 0.995 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 27 6 18.18 28 0 0.00 ZNF251 90987 genome.wustl.edu 37 8 145948354 145948354 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145948354 145948354 G T SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known missense c.691 p.H231N 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 30 17 36.17 47 0 0.00 ZNF251 90987 genome.wustl.edu 37 8 145948737 145948737 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145948737 145948737 G C SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known missense c.308 p.S103C 0.172 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 23 11 31.43 32 0 0.00 ZNF252P 286101 genome.wustl.edu 37 8 146202368 146202368 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 146202368 146202368 G A SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF252P HGNC ENSG00000196922 7 3 30.00 8 0 0.00 ZNF252P 286101 genome.wustl.edu 37 8 146202485 146202485 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146202485 146202485 C T SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF252P HGNC ENSG00000196922 34 13 27.66 23 0 0.00 ZNF252P 286101 genome.wustl.edu 37 8 146202714 146202714 + RNA SNP T T A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 146202714 146202714 T A SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors ZNF252P HGNC ENSG00000196922 14 11 44.00 36 0 0.00 ZNF252P-AS1 286103 genome.wustl.edu 37 8 146228392 146228392 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 146228392 146228392 C T SNP ZNF252P-AS1 ENST00000527067 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF252P-AS1 HGNC ENSG00000255559 31 13 29.55 29 0 0.00 ZNF253 56242 genome.wustl.edu 37 19 20002715 20002715 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 20002715 20002715 G T SNP ZNF253 ENST00000589717 human ensembl 70_37 +1 known missense c.659 p.R220I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF253 HGNC ENSG00000256771 12 6 33.33 28 0 0.00 ZNF254 9534 genome.wustl.edu 37 19 24289360 24289360 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 24289360 24289360 C T SNP ZNF254 ENST00000357002 human ensembl 70_37 +1 known silent c.168 p.V56 0.233 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF254 HGNC ENSG00000213096 57 18 24.00 93 0 0.00 ZNF254 9534 genome.wustl.edu 37 19 24309583 24309583 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 24309583 24309583 G A SNP ZNF254 ENST00000357002 human ensembl 70_37 +1 known missense c.781 p.A261T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF254 HGNC ENSG00000213096 44 6 11.76 14 0 0.00 ZNF256 10172 genome.wustl.edu 37 19 58453782 58453782 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58453782 58453782 A G SNP ZNF256 ENST00000282308 human ensembl 70_37 -1 known missense c.394 p.Y132H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 26 11 29.73 59 0 0.00 ZNF257 113835 genome.wustl.edu 37 19 22271011 22271011 + Silent SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 22271011 22271011 C G SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known silent c.459 p.V153 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 24 16 40.00 55 0 0.00 ZNF257 113835 genome.wustl.edu 37 19 22271066 22271066 + Missense_Mutation SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 22271066 22271066 A T SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.514 p.T172S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 27 13 32.50 27 0 0.00 ZNF257 113835 genome.wustl.edu 37 19 22271297 22271297 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22271297 22271297 G A SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.745 p.V249I 0.505 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 73 11 13.10 29 0 0.00 ZNF257 113835 genome.wustl.edu 37 19 22271465 22271465 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 22271465 22271465 C G SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.913 p.Q305E 0.251 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 23 13 36.11 39 0 0.00 ZNF257 113835 genome.wustl.edu 37 19 22271993 22271993 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 22271993 22271993 C T SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.1441 p.H481Y 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 21 9 30.00 20 0 0.00 ZNF260 339324 genome.wustl.edu 37 19 37004907 37004907 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 37004907 37004907 G C SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known missense c.1234 p.H412D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 37 17 31.48 44 0 0.00 ZNF260 339324 genome.wustl.edu 37 19 37005303 37005303 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37005303 37005303 C G SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known missense c.838 p.E280Q 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 19 6 24.00 31 0 0.00 ZNF260 339324 genome.wustl.edu 37 19 37005778 37005778 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37005778 37005778 T A SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known silent c.363 p.P121 0.027 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 27 4 12.90 30 0 0.00 ZNF263 10127 genome.wustl.edu 37 16 3335110 3335110 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 3335110 3335110 C T SNP ZNF263 ENST00000219069 human ensembl 70_37 +1 known silent c.439 p.L147 1.000 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 30 38 55.88 59 0 0.00 ZNF264 9422 genome.wustl.edu 37 19 57724021 57724021 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 57724021 57724021 C T SNP ZNF264 ENST00000263095 human ensembl 70_37 +1 known missense c.1556 p.S519L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF264 HGNC ENSG00000083844 24 24 50.00 27 0 0.00 ZNF264 9422 genome.wustl.edu 37 19 57724321 57724321 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57724321 57724321 G C SNP ZNF264 ENST00000263095 human ensembl 70_37 +1 known missense c.1856 p.R619T 0.637 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF264 HGNC ENSG00000083844 12 7 36.84 39 0 0.00 ZNF266 10781 genome.wustl.edu 37 19 9524429 9524429 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 9524429 9524429 C T SNP ZNF266 ENST00000361151 human ensembl 70_37 -1 known missense c.1172 p.R391K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 55 15 21.43 59 0 0.00 ZNF267 10308 genome.wustl.edu 37 16 31926081 31926081 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31926081 31926081 C T SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known missense c.511 p.H171Y 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 24 12 33.33 50 0 0.00 ZNF267 10308 genome.wustl.edu 37 16 31926596 31926596 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31926596 31926596 C T SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known silent c.1026 p.I342 0.112 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 15 10 40.00 27 0 0.00 ZNF267 10308 genome.wustl.edu 37 16 31927750 31927750 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31927750 31927750 C G SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known missense c.2180 p.S727C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 29 10 25.64 51 0 0.00 ZNF268 10795 genome.wustl.edu 37 12 133779005 133779005 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 12 133779005 133779005 G C SNP ZNF268 ENST00000228289 human ensembl 70_37 +1 known missense c.733 p.G245R 0.034 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 18 5 21.74 22 0 0.00 ZNF268 10795 genome.wustl.edu 37 12 133780222 133780222 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 133780222 133780222 G T SNP ZNF268 ENST00000228289 human ensembl 70_37 +1 known silent c.1950 p.T650 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 33 4 10.81 57 0 0.00 ZNF271 10778 genome.wustl.edu 37 18 32887449 32887449 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887449 32887449 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.915 - - - no_errors ZNF271 HGNC ENSG00000257267 77 11 12.50 86 0 0.00 ZNF271 10778 genome.wustl.edu 37 18 32887460 32887460 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887460 32887460 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ENSG00000257267 71 12 14.46 79 0 0.00 ZNF271 10778 genome.wustl.edu 37 18 32887561 32887561 + RNA SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887561 32887561 C G SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.776 - - - no_errors ZNF271 HGNC ENSG00000257267 75 14 15.73 94 0 0.00 ZNF271 10778 genome.wustl.edu 37 18 32890708 32890708 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 32890708 32890708 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ENSG00000257267 15 13 46.43 24 0 0.00 ZNF271 10778 genome.wustl.edu 37 18 32890708 32890708 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 32890708 32890708 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ENSG00000257267 24 5 17.24 19 0 0.00 ZNF273 10793 genome.wustl.edu 37 7 64349231 64349231 + RNA SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 64349231 64349231 C G SNP ZNF273 ENST00000471926 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors ZNF273 HGNC ENSG00000198039 23 16 41.03 55 0 0.00 ZNF273 10793 genome.wustl.edu 37 7 64388535 64388535 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 64388535 64388535 C G SNP ZNF273 ENST00000476120 human ensembl 70_37 +1 known missense c.829 p.L277V 0.097 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 36 11 23.40 40 0 0.00 ZNF273 10793 genome.wustl.edu 37 7 64388860 64388860 + Missense_Mutation SNP A A T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 7 64388860 64388860 A T SNP ZNF273 ENST00000476120 human ensembl 70_37 +1 known missense c.1154 p.Q385L 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 36 28 43.75 71 0 0.00 ZNF274 10782 genome.wustl.edu 37 19 58718433 58718433 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58718433 58718433 G A SNP ZNF274 ENST00000326804 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 58 7 10.77 59 0 0.00 ZNF275 10838 genome.wustl.edu 37 X 152612885 152612885 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 152612885 152612885 G A SNP ZNF275 ENST00000440091 human ensembl 70_37 +1 known missense c.832 p.D278N 0.385 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 21 6 22.22 19 0 0.00 ZNF275 10838 genome.wustl.edu 37 X 152612967 152612967 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 152612967 152612967 G A SNP ZNF275 ENST00000440091 human ensembl 70_37 +1 known missense c.914 p.R305Q 0.384 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 34 12 26.09 28 0 0.00 ZNF276 92822 genome.wustl.edu 37 16 89804295 89804295 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89804295 89804295 C T SNP ZNF276 ENST00000443381 human ensembl 70_37 +1 known missense c.1556 p.S519L 1.000 pfscan_Znf_C2H2 pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 78 23 22.77 107 0 0.00 ZNF277 11179 genome.wustl.edu 37 7 111846792 111846792 + Frame_Shift_Del DEL G G - TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 7 111846792 111846792 G - DEL ZNF277 ENST00000361822 human ensembl 70_37 +1 known frame_shift_del c.21 p.A9fs 0.920 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 51 16 23.88 75 0 0.00 ZNF277 11179 genome.wustl.edu 37 7 111846857 111846857 + Missense_Mutation SNP A A G TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 7 111846857 111846857 A G SNP ZNF277 ENST00000361822 human ensembl 70_37 +1 known missense c.86 p.Y29C 0.143 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 25 8 24.24 37 0 0.00 ZNF28 7576 genome.wustl.edu 37 19 53303790 53303790 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 53303790 53303790 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known silent c.1308 p.E436 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF28 HGNC ENSG00000198538 32 7 17.95 48 0 0.00 ZNF28 7576 genome.wustl.edu 37 19 53304200 53304200 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53304200 53304200 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known missense c.898 p.E300K 0.019 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF28 HGNC ENSG00000198538 117 25 17.61 130 0 0.00 ZNF28 7576 genome.wustl.edu 37 19 53304956 53304956 + Splice_Site SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 53304956 53304956 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known splice_site c.143-1 e3-1 0.014 - - - no_errors ZNF28 HGNC ENSG00000198538 69 50 42.02 123 0 0.00 ZNF280A 129025 genome.wustl.edu 37 22 22868784 22868784 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 22868784 22868784 C T SNP ZNF280A ENST00000302097 human ensembl 70_37 -1 known missense c.1171 p.E391K 0.936 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 32 17 34.69 58 0 0.00 ZNF280A 129025 genome.wustl.edu 37 22 22868860 22868860 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 22868860 22868860 G A SNP ZNF280A ENST00000302097 human ensembl 70_37 -1 known silent c.1095 p.V365 0.499 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 23 19 45.24 35 0 0.00 ZNF280B 140883 genome.wustl.edu 37 22 22842318 22842318 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 22842318 22842318 A C SNP ZNF280B ENST00000360412 human ensembl 70_37 -1 known missense c.1406 p.F469C 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 19 11 36.67 42 0 0.00 ZNF280B 140883 genome.wustl.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 22842526 22842526 C T SNP ZNF280B ENST00000360412 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 21 20 48.78 66 0 0.00 ZNF280D 54816 genome.wustl.edu 37 15 56996336 56996336 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 56996336 56996336 G A SNP ZNF280D ENST00000267807 human ensembl 70_37 -1 known missense c.158 p.S53L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 35 23 39.66 31 0 0.00 ZNF281 23528 genome.wustl.edu 37 1 200376337 200376337 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 1 200376337 200376337 G C SNP ZNF281 ENST00000294740 human ensembl 70_37 -1 known missense c.2497 p.Q833E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 36 5 12.20 32 0 0.00 ZNF281 23528 genome.wustl.edu 37 1 200377147 200377147 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 200377147 200377147 G C SNP ZNF281 ENST00000294740 human ensembl 70_37 -1 known missense c.1687 p.Q563E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 46 39 45.88 53 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44351423 44351423 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 44351423 44351423 C G SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.670 p.Q224E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 27 4 12.90 41 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44351765 44351765 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 44351765 44351765 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 56 22 28.21 37 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44351765 44351765 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 44351765 44351765 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 73 40 35.40 98 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44352021 44352021 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44352021 44352021 G T SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1268 p.R423I 0.893 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 22 7 24.14 31 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44352686 44352686 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44352686 44352686 G A SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1933 p.E645K 0.949 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 121 21 14.79 76 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44352726 44352726 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44352726 44352726 A G SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1973 p.E658G 0.029 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 27 11 28.95 36 0 0.00 ZNF283 284349 genome.wustl.edu 37 19 44352764 44352764 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44352764 44352764 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.2011 p.E671Q 0.870 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 82 28 25.45 46 0 0.00 ZNF284 342909 genome.wustl.edu 37 19 44590140 44590140 + Nonsense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 44590140 44590140 C G SNP ZNF284 ENST00000421176 human ensembl 70_37 +1 known nonsense c.509 p.S170* 0.123 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF284 HGNC ENSG00000186026 18 10 35.71 21 0 0.00 ZNF285 26974 genome.wustl.edu 37 19 44891043 44891043 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 44891043 44891043 G T SNP ZNF285 ENST00000330997 human ensembl 70_37 -1 known missense c.1364 p.P455Q 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 69 9 11.54 51 0 0.00 ZNF286B 729288 genome.wustl.edu 37 17 18565291 18565291 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 18565291 18565291 G C SNP ZNF286B ENST00000545289 human ensembl 70_37 -1 known missense c.1528 p.L510V 0.960 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ENSG00000249459 90 15 14.29 84 0 0.00 ZNF286B 729288 genome.wustl.edu 37 17 18565375 18565375 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 18565375 18565375 G A SNP ZNF286B ENST00000545289 human ensembl 70_37 -1 known missense c.1444 p.L482F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ENSG00000249459 52 36 40.91 61 0 0.00 ZNF287 57336 genome.wustl.edu 37 17 16456437 16456437 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16456437 16456437 G A SNP ZNF287 ENST00000395824 human ensembl 70_37 -1 known missense c.1019 p.S340F 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 20 16 44.44 52 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87925755 87925755 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 87925755 87925755 G T SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 64 40 38.46 86 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87964521 87964521 + Missense_Mutation SNP A A G TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 6 87964521 87964521 A G SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.1174 p.S392G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 36 18 33.33 51 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87964650 87964650 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 87964650 87964650 G A SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.1303 p.V435I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 24 13 35.14 39 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87965710 87965710 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 87965710 87965710 G A SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.2363 p.R788K 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 24 6 20.00 44 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87966072 87966072 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 87966072 87966072 G C SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.2725 p.E909Q 0.012 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 11 6 35.29 24 0 0.00 ZNF292 23036 genome.wustl.edu 37 6 87966431 87966431 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 87966431 87966431 G C SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.3084 p.L1028F 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 9 5 35.71 18 0 0.00 ZBTB21 49854 genome.wustl.edu 37 21 43411540 43411540 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 21 43411540 43411540 C T SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2665 p.E889K 0.947 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 29 13 30.95 44 0 0.00 ZBTB21 49854 genome.wustl.edu 37 21 43412056 43412056 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43412056 43412056 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2149 p.E717Q 0.063 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 34 10 22.73 50 0 0.00 ZBTB21 49854 genome.wustl.edu 37 21 43412124 43412124 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43412124 43412124 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2081 p.G694A 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 34 8 19.05 50 0 0.00 ZBTB21 49854 genome.wustl.edu 37 21 43412671 43412671 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 43412671 43412671 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.1534 p.E512Q 0.639 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 21 13 38.24 31 0 0.00 ZNF295-AS1 150142 genome.wustl.edu 37 21 43443259 43443260 + RNA INS - - A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 21 43443259 43443260 - A INS ZNF295-AS1 ENST00000596595 human ensembl 70_37 +1 known rna NULL NULL 0.015:0.019 - - - no_errors ZNF295-AS1 HGNC ENSG00000237232 59 7 10.61 30 0 0.00 ZNF295-AS1 150142 genome.wustl.edu 37 21 43444361 43444361 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43444361 43444361 C T SNP ZNF295-AS1 ENST00000596595 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF295-AS1 HGNC ENSG00000237232 20 6 23.08 18 0 0.00 ZNF295-AS1 150142 genome.wustl.edu 37 21 43444588 43444588 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 43444588 43444588 C T SNP ZNF295-AS1 ENST00000412906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF295-AS1 HGNC ENSG00000237232 145 23 13.69 150 0 0.00 ZNF295-AS1 150142 genome.wustl.edu 37 21 43444818 43444818 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43444818 43444818 C T SNP ZNF295-AS1 ENST00000412906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF295-AS1 HGNC ENSG00000237232 20 6 23.08 15 0 0.00 ZNF3 7551 genome.wustl.edu 37 7 99669626 99669626 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 7 99669626 99669626 C T SNP ZNF3 ENST00000299667 human ensembl 70_37 -1 known missense c.481 p.E161K 0.719 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF3 HGNC ENSG00000166526 24 19 44.19 31 0 0.00 ZNF300 91975 genome.wustl.edu 37 5 150275565 150275565 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 150275565 150275565 G A SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known silent c.1284 p.T428 0.496 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 47 14 22.95 81 0 0.00 ZNF300 91975 genome.wustl.edu 37 5 150275824 150275824 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150275824 150275824 T G SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.1025 p.D342A 0.079 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 17 5 22.73 16 0 0.00 ZNF300 91975 genome.wustl.edu 37 5 150277651 150277651 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150277651 150277651 C G SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.286 p.D96H 0.992 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 22 13 37.14 26 0 0.00 ZNF300 91975 genome.wustl.edu 37 5 150277675 150277675 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150277675 150277675 C T SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.262 p.D88N 0.486 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 20 15 42.86 28 0 0.00 ZNF300 91975 genome.wustl.edu 37 5 150277689 150277689 + Missense_Mutation SNP C C A TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 5 150277689 150277689 C A SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.248 p.W83L 1.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 23 3 11.54 36 0 0.00 ZNF300P1 134466 genome.wustl.edu 37 5 150310537 150310537 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 150310537 150310537 G A SNP ZNF300P1 ENST00000520773 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF300P1 HGNC ENSG00000197083 24 4 14.29 23 0 0.00 ZNF300P1 134466 genome.wustl.edu 37 5 150310854 150310854 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150310854 150310854 C A SNP ZNF300P1 ENST00000520773 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors ZNF300P1 HGNC ENSG00000197083 24 18 42.86 75 0 0.00 ZNF302 55900 genome.wustl.edu 37 19 35170801 35170801 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 35170801 35170801 G C SNP ZNF302 ENST00000446502 human ensembl 70_37 +1 novel missense c.78 p.M26I 0.067 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ENSG00000089335 105 19 15.32 152 0 0.00 ZNF302 55900 genome.wustl.edu 37 19 35175249 35175249 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 35175249 35175249 G C SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.307 p.V103L 0.007 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ENSG00000089335 33 16 32.65 38 0 0.00 ZNF302 55900 genome.wustl.edu 37 19 35175900 35175900 + Nonsense_Mutation SNP A A T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 35175900 35175900 A T SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known nonsense c.958 p.K320* 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ENSG00000089335 70 16 18.60 94 0 0.00 ZNF302 55900 genome.wustl.edu 37 19 35176024 35176024 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 35176024 35176024 G A SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.1082 p.R361K 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ENSG00000089335 26 24 48.00 57 0 0.00 ZNF302 55900 genome.wustl.edu 37 19 35176129 35176129 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 35176129 35176129 C G SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.1187 p.P396R 0.074 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ENSG00000089335 38 9 19.15 67 0 0.00 ZNF304 57343 genome.wustl.edu 37 19 57869030 57869030 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57869030 57869030 G A SNP ZNF304 ENST00000282286 human ensembl 70_37 +1 known missense c.1793 p.R598H 0.751 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF304 HGNC ENSG00000131845 7 16 69.57 53 0 0.00 ZNF311 282890 genome.wustl.edu 37 6 28971356 28971356 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 28971356 28971356 C T SNP ZNF311 ENST00000377179 human ensembl 70_37 -1 known missense c.25 p.E9K 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 30 15 33.33 44 0 0.00 ZNF317 57693 genome.wustl.edu 37 19 9271850 9271850 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9271850 9271850 C T SNP ZNF317 ENST00000247956 human ensembl 70_37 +1 known missense c.1529 p.A510V 0.691 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 38 7 15.22 35 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43305622 43305622 + Silent SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 6 43305622 43305622 G C SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.6114 p.V2038 0.002 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 42 11 20.75 41 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43307344 43307344 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 43307344 43307344 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.4392 p.P1464 0.077 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 30 21 41.18 32 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43307899 43307899 + Silent SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 6 43307899 43307899 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.3837 p.K1279 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 11 25 69.44 23 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43309879 43309879 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 43309879 43309879 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.3347 p.R1116H 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 53 20 27.40 61 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43316363 43316363 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 43316363 43316363 C A SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2771 p.G924V 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 33 18 35.29 32 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43322623 43322623 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43322623 43322623 C G SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2449 p.E817Q 0.912 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 98 29 22.83 133 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43322647 43322647 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43322647 43322647 G C SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2425 p.Q809E 0.999 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 58 33 36.26 98 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43323475 43323475 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 43323475 43323475 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.1597 p.D533N 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 18 20 52.63 46 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43323777 43323777 + Missense_Mutation SNP A A G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26397cf7-5149-4147-8d13-1083d5ccf9f0 76996ad8-2d20-4af4-88c2-67aad56b06a3 6 43323777 43323777 A G SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.1295 p.I432T 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 42 10 18.87 72 0 0.00 ZNF318 24149 genome.wustl.edu 37 6 43325332 43325332 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 43325332 43325332 G A SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.720 p.I240 0.959 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 42 33 44.00 63 0 0.00 ZNF32 7580 genome.wustl.edu 37 10 44139651 44139651 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 44139651 44139651 C T SNP ZNF32 ENST00000374433 human ensembl 70_37 -1 known silent c.669 p.R223 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 32 29 47.54 52 0 0.00 ZNF32 7580 genome.wustl.edu 37 10 44139801 44139801 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 44139801 44139801 C G SNP ZNF32 ENST00000374433 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.872 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 43 39 47.56 65 0 0.00 ZNF32-AS3 414201 genome.wustl.edu 37 10 44169892 44169892 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 44169892 44169892 C G SNP ZNF32-AS3 ENST00000458063 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors ZNF32-AS3 HGNC ENSG00000223910 54 10 15.62 37 0 0.00 ZNF320 162967 genome.wustl.edu 37 19 53382788 53382788 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53382788 53382788 C G SNP ZNF320 ENST00000598199 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF320 HGNC ENSG00000182986 3 6 66.67 10 0 0.00 ZNF320 162967 genome.wustl.edu 37 19 53384853 53384853 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 53384853 53384853 G A SNP ZNF320 ENST00000391781 human ensembl 70_37 -1 known missense c.526 p.L176F 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 78 17 17.71 81 0 0.00 ZNF321P 399669 genome.wustl.edu 37 19 53432341 53432341 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53432341 53432341 C G SNP ZNF321P ENST00000391777 human ensembl 70_37 -1 known missense c.517 p.E173Q 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF321P HGNC ENSG00000221874 46 36 43.90 77 0 0.00 ZNF324 25799 genome.wustl.edu 37 19 58982703 58982703 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 58982703 58982703 G A SNP ZNF324 ENST00000196482 human ensembl 70_37 +1 known missense c.844 p.E282K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 69 14 16.87 73 0 0.00 ZNF324B 388569 genome.wustl.edu 37 19 58966544 58966544 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58966544 58966544 G C SNP ZNF324B ENST00000391696 human ensembl 70_37 +1 known missense c.203 p.R68P 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF324B HGNC ENSG00000249471 47 15 24.19 39 0 0.00 ZNF324B 388569 genome.wustl.edu 37 19 58966858 58966858 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 58966858 58966858 C T SNP ZNF324B ENST00000336614 human ensembl 70_37 +1 known missense c.547 p.R183W 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 48 8 14.29 32 0 0.00 ZNF324B 388569 genome.wustl.edu 37 19 58967304 58967304 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 58967304 58967304 C T SNP ZNF324B ENST00000336614 human ensembl 70_37 +1 known silent c.993 p.H331 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 24 7 22.58 31 0 0.00 ZNF326 284695 genome.wustl.edu 37 1 90482950 90482950 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 90482950 90482950 C G SNP ZNF326 ENST00000340281 human ensembl 70_37 +1 known missense c.1001 p.S334C 0.999 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 26 15 36.59 64 0 0.00 ZNF326 284695 genome.wustl.edu 37 1 90487841 90487841 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 90487841 90487841 C G SNP ZNF326 ENST00000340281 human ensembl 70_37 +1 known silent c.1338 p.V446 0.996 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 39 13 25.00 57 0 0.00 ZNF329 79673 genome.wustl.edu 37 19 58640056 58640056 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 58640056 58640056 G A SNP ZNF329 ENST00000358067 human ensembl 70_37 -1 known missense c.815 p.S272L 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 134 15 10.07 161 0 0.00 ZNF329 79673 genome.wustl.edu 37 19 58640843 58640843 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58640843 58640843 A C SNP ZNF329 ENST00000358067 human ensembl 70_37 -1 known missense c.28 p.F10V 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 6 8 57.14 14 0 0.00 ZNF330 27309 genome.wustl.edu 37 4 142145644 142145644 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 142145644 142145644 T G SNP ZNF330 ENST00000262990 human ensembl 70_37 +1 known missense c.124 p.C42G 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 17 4 19.05 24 0 0.00 ZNF331 55422 genome.wustl.edu 37 19 54040626 54040626 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54040626 54040626 C A SNP ZNF331 ENST00000504033 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors ZNF331 HGNC ENSG00000130844 23 4 14.81 22 0 0.00 ZNF331 55422 genome.wustl.edu 37 19 54080494 54080494 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 19 54080494 54080494 G A SNP ZNF331 ENST00000253144 human ensembl 70_37 +1 known missense c.680 p.G227D 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 14 5 26.32 33 0 0.00 ZNF331 55422 genome.wustl.edu 37 19 54080602 54080602 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54080602 54080602 G T SNP ZNF331 ENST00000253144 human ensembl 70_37 +1 known missense c.788 p.R263I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 17 13 43.33 29 0 0.00 ZNF333 84449 genome.wustl.edu 37 19 14830009 14830009 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 14830009 14830009 G C SNP ZNF333 ENST00000292530 human ensembl 70_37 +1 known missense c.1870 p.E624Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 18 5 21.74 27 0 0.00 ZNF334 55713 genome.wustl.edu 37 20 45130587 45130587 + Missense_Mutation SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 20 45130587 45130587 T C SNP ZNF334 ENST00000347606 human ensembl 70_37 -1 known missense c.1391 p.N464S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 28 25 47.17 43 0 0.00 ZNF334 55713 genome.wustl.edu 37 20 45130587 45130587 + Missense_Mutation SNP T T C TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 20 45130587 45130587 T C SNP ZNF334 ENST00000347606 human ensembl 70_37 -1 known missense c.1391 p.N464S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 73 70 48.95 137 0 0.00 ZNF334 55713 genome.wustl.edu 37 20 45131502 45131502 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 45131502 45131502 C T SNP ZNF334 ENST00000347606 human ensembl 70_37 -1 known missense c.476 p.R159K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 120 25 17.24 139 0 0.00 ZNF335 63925 genome.wustl.edu 37 20 44577657 44577657 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44577657 44577657 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.3964 p.E1322K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 18 3 14.29 22 0 0.00 ZNF335 63925 genome.wustl.edu 37 20 44580951 44580951 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 20 44580951 44580951 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known silent c.3024 p.P1008 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 73 10 12.05 53 0 0.00 ZNF335 63925 genome.wustl.edu 37 20 44582415 44582415 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 44582415 44582415 G A SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.2615 p.A872V 0.967 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 56 16 22.22 37 0 0.00 ZNF335 63925 genome.wustl.edu 37 20 44592364 44592364 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 44592364 44592364 C G SNP ZNF335 ENST00000475002 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF335 HGNC ENSG00000198026 52 7 11.86 47 0 0.00 ZNF335 63925 genome.wustl.edu 37 20 44596160 44596160 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44596160 44596160 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.928 p.D310N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 55 20 26.67 79 0 0.00 ZNF337 26152 genome.wustl.edu 37 20 25656944 25656944 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 25656944 25656944 C T SNP ZNF337 ENST00000252979 human ensembl 70_37 -1 known missense c.980 p.R327Q 0.724 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 58 21 26.58 74 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38343652 38343652 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343652 38343652 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known silent c.618 p.L206 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 13 12 48.00 44 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38343652 38343652 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343652 38343652 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known silent c.618 p.L206 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 18 32 64.00 139 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38343662 38343662 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343662 38343662 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.628 p.E210K 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 10 13 56.52 43 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38343662 38343662 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343662 38343662 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.628 p.E210K 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 17 34 66.67 138 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38344302 38344302 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 10 38344302 38344302 C T SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.1268 p.A423V 0.112 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 33 12 26.67 68 0 0.00 ZNF33A 7581 genome.wustl.edu 37 10 38344896 38344896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 38344896 38344896 G C SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.1862 p.G621A 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 44 29 39.73 63 0 0.00 ZNF33B 7582 genome.wustl.edu 37 10 43078391 43078391 + RNA SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 43078391 43078391 C G SNP ZNF33B ENST00000465206 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF33B HGNC ENSG00000196693 12 9 42.86 15 0 0.00 ZNF34 80778 genome.wustl.edu 37 8 145998765 145998765 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145998765 145998765 C T SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1569 p.R523 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 69 18 20.69 72 0 0.00 ZNF34 80778 genome.wustl.edu 37 8 145998848 145998848 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 145998848 145998848 G A SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1486 p.L496 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 63 9 12.33 73 0 0.00 ZNF34 80778 genome.wustl.edu 37 8 145999029 145999029 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 145999029 145999029 C T SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1305 p.V435 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 29 4 11.76 33 0 0.00 ZNF34 80778 genome.wustl.edu 37 8 145999086 145999086 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 145999086 145999086 C A SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known missense c.1248 p.E416D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 22 8 26.67 21 0 0.00 ZNF341 84905 genome.wustl.edu 37 20 32345025 32345025 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 32345025 32345025 C A SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known missense c.813 p.F271L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 30 15 33.33 66 0 0.00 ZNF341 84905 genome.wustl.edu 37 20 32357961 32357961 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 32357961 32357961 G C SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known missense c.1485 p.K495N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 56 18 24.32 75 0 0.00 ZNF341 84905 genome.wustl.edu 37 20 32358057 32358057 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 32358057 32358057 C T SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known silent c.1581 p.L527 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 56 14 20.00 60 0 0.00 ZNF343 79175 genome.wustl.edu 37 20 2464233 2464233 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 20 2464233 2464233 C T SNP ZNF343 ENST00000278772 human ensembl 70_37 -1 known silent c.1374 p.T458 0.335 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 69 16 18.82 115 0 0.00 ZNF343 79175 genome.wustl.edu 37 20 2465219 2465219 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 2465219 2465219 G A SNP ZNF343 ENST00000278772 human ensembl 70_37 -1 known nonsense c.388 p.Q130* 0.454 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 33 13 28.26 35 0 0.00 ZNF345 25850 genome.wustl.edu 37 19 37368187 37368187 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37368187 37368187 G T SNP ZNF345 ENST00000420450 human ensembl 70_37 +1 known missense c.455 p.G152V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 17 3 15.00 29 0 0.00 ZNF345 25850 genome.wustl.edu 37 19 37368458 37368458 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37368458 37368458 T G SNP ZNF345 ENST00000420450 human ensembl 70_37 +1 known silent c.726 p.G242 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 5 2 28.57 22 0 0.00 ZNF345 25850 genome.wustl.edu 37 19 37383799 37383799 + Silent SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 37383799 37383799 C A SNP ZNF345 ENST00000526123 human ensembl 70_37 +1 putative silent c.126 p.I42 0.713 NULL NULL - no_errors ZNF345 HGNC ENSG00000251247 20 8 28.57 25 0 0.00 ZNF346-IT1 0 genome.wustl.edu 37 5 176478759 176478759 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 176478759 176478759 C T SNP ZNF346-IT1 ENST00000515264 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors ZNF346-IT1 HGNC ENSG00000251666 58 8 12.12 25 0 0.00 ZNF347 84671 genome.wustl.edu 37 19 53644231 53644231 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 53644231 53644231 C T SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.1853 p.R618Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 90 10 10.00 103 0 0.00 ZNF347 84671 genome.wustl.edu 37 19 53644319 53644319 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53644319 53644319 G A SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.1765 p.R589W 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 41 24 36.36 59 0 0.00 ZNF347 84671 genome.wustl.edu 37 19 53645643 53645644 + In_Frame_Ins INS - - TTG TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 53645643 53645644 - TTG INS ZNF347 ENST00000452676 human ensembl 70_37 -1 known in_frame_ins c.441_440 p.R147in_frame_insSK 0.000:0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 182 46 20.18 238 0 0.00 ZNF347 84671 genome.wustl.edu 37 19 53652026 53652026 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53652026 53652026 A G SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.182 p.L61S 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 17 18 51.43 64 0 0.00 ZNF347 84671 genome.wustl.edu 37 19 53652617 53652617 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 53652617 53652617 G A SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 0.001 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 69 28 28.87 63 0 0.00 ZNF35 7584 genome.wustl.edu 37 3 44700920 44700920 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 3 44700920 44700920 C T SNP ZNF35 ENST00000396056 human ensembl 70_37 +1 known silent c.1065 p.I355 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 11 7 38.89 21 0 0.00 ZNF350 59348 genome.wustl.edu 37 19 52468256 52468256 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 52468256 52468256 C T SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.1450 p.V484I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 23 33 58.93 38 0 0.00 ZNF350 59348 genome.wustl.edu 37 19 52468256 52468256 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 52468256 52468256 C T SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.1450 p.V484I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 34 27 44.26 62 0 0.00 ZNF350 59348 genome.wustl.edu 37 19 52468865 52468865 + Nonsense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52468865 52468865 G A SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known nonsense c.841 p.Q281* 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 45 12 21.05 54 0 0.00 ZNF350 59348 genome.wustl.edu 37 19 52469366 52469366 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52469366 52469366 G A SNP ZNF350 ENST00000243644 human ensembl 70_37 -1 known missense c.340 p.H114Y 0.123 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 37 7 15.91 31 0 0.00 ZNF354B 117608 genome.wustl.edu 37 5 178310916 178310916 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 178310916 178310916 A G SNP ZNF354B ENST00000322434 human ensembl 70_37 +1 known missense c.1463 p.H488R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 14 17 54.84 53 0 0.00 ZNF354B 117608 genome.wustl.edu 37 5 178310999 178310999 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 178310999 178310999 C G SNP ZNF354B ENST00000322434 human ensembl 70_37 +1 known missense c.1546 p.H516D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 37 23 38.33 31 0 0.00 ZNF354C 30832 genome.wustl.edu 37 5 178505884 178505884 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178505884 178505884 G A SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.451 p.E151K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 12 8 40.00 16 0 0.00 ZNF354C 30832 genome.wustl.edu 37 5 178506224 178506224 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 178506224 178506224 G C SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.791 p.R264T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 44 21 31.82 45 0 0.00 ZNF354C 30832 genome.wustl.edu 37 5 178506306 178506306 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 178506306 178506306 G A SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known silent c.873 p.L291 0.022 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 3 16 84.21 27 0 0.00 ZNF354C 30832 genome.wustl.edu 37 5 178506476 178506476 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178506476 178506476 G T SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.1043 p.R348I 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 16 7 30.43 29 0 0.00 ZNF354C 30832 genome.wustl.edu 37 5 178506971 178506971 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 5 178506971 178506971 G A SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.1538 p.R513K 0.976 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 15 13 46.43 24 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7584278 7584278 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 7584278 7584278 C G SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known silent c.150 p.L50 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 23 10 30.30 35 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7584332 7584332 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 7584332 7584332 G A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known silent c.204 p.S68 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 34 7 17.07 29 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7584342 7584342 + Missense_Mutation SNP G G T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 7584342 7584342 G T SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known missense c.214 p.D72Y 0.088 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 53 30 36.14 89 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7584411 7584411 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 7584411 7584411 G A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known missense c.283 p.D95N 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 63 17 21.25 73 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7585260 7585260 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7585260 7585260 C T SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known nonsense c.1132 p.Q378* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 7 6 46.15 11 0 0.00 ZNF358 140467 genome.wustl.edu 37 19 7585681 7585681 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 7585681 7585681 C A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known missense c.1553 p.P518Q 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 23 36 61.02 55 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64135973 64135973 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 64135973 64135973 G A SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known silent c.21 p.E7 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 21 19 47.50 34 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64160273 64160273 + RNA SNP C C T TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 10 64160273 64160273 C T SNP ZNF365 ENST00000466727 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors ZNF365 HGNC ENSG00000138311 46 11 19.30 58 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64162065 64162065 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 64162065 64162065 C G SNP ZNF365 ENST00000466727 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors ZNF365 HGNC ENSG00000138311 2 7 77.78 11 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64239642 64239642 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 64239642 64239642 C T SNP ZNF365 ENST00000395255 human ensembl 70_37 +1 known missense c.989 p.A330V 0.001 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 23 24 51.06 52 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64416242 64416242 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 64416242 64416242 G C SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.009 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 31 25 44.64 66 0 0.00 ZNF365 22891 genome.wustl.edu 37 10 64429980 64429980 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 10 64429980 64429980 C G SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known missense c.1308 p.I436M 0.007 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 27 8 22.86 55 0 0.00 ZNF366 167465 genome.wustl.edu 37 5 71740119 71740119 + Splice_Site SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 71740119 71740119 C G SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known splice_site c.1700-1 e4-1 1.000 - - - no_errors ZNF366 HGNC ENSG00000178175 59 14 19.18 72 0 0.00 ZNF366 167465 genome.wustl.edu 37 5 71756370 71756370 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 71756370 71756370 G A SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known silent c.954 p.F318 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 66 17 20.48 92 0 0.00 ZNF366 167465 genome.wustl.edu 37 5 71756459 71756459 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 71756459 71756459 G C SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known missense c.865 p.L289V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 45 27 37.50 64 0 0.00 ZNF366 167465 genome.wustl.edu 37 5 71756680 71756680 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 71756680 71756680 C T SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known missense c.644 p.R215Q 0.007 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 18 3 14.29 48 0 0.00 ZNF37A 7587 genome.wustl.edu 37 10 38403718 38403718 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 10 38403718 38403718 C T SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known silent c.51 p.F17 0.220 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ENSG00000075407 57 38 40.00 87 0 0.00 ZNF37A 7587 genome.wustl.edu 37 10 38407121 38407121 + Missense_Mutation SNP A A G TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 10 38407121 38407121 A G SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known missense c.1042 p.T348A 0.742 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ENSG00000075407 37 37 50.00 77 0 0.00 ZNF37A 7587 genome.wustl.edu 37 10 38407182 38407182 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38407182 38407182 C A SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known nonsense c.1103 p.S368* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ENSG00000075407 27 23 44.23 45 0 0.00 ZNF37A 7587 genome.wustl.edu 37 10 38407509 38407509 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 38407509 38407509 G A SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known missense c.1430 p.R477H 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ENSG00000075407 11 3 21.43 11 0 0.00 ZNF37BP 100129482 genome.wustl.edu 37 10 43015673 43015673 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 43015673 43015673 C T SNP ZNF37BP ENST00000452075 human ensembl 70_37 -1 known rna NULL NULL 0.807 - - - no_errors ZNF37BP HGNC ENSG00000234420 18 6 25.00 36 0 0.00 ZNF37BP 100129482 genome.wustl.edu 37 10 43046052 43046052 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 43046052 43046052 G A SNP ZNF37BP ENST00000435805 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF37BP HGNC ENSG00000234420 10 5 33.33 11 0 0.00 ZNF382 84911 genome.wustl.edu 37 19 37101590 37101590 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37101590 37101590 G A SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known missense c.178 p.E60K 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 16 8 33.33 28 0 0.00 ZNF382 84911 genome.wustl.edu 37 19 37117673 37117673 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 37117673 37117673 G A SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known missense c.874 p.E292K 0.996 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 39 12 23.53 44 0 0.00 ZNF382 84911 genome.wustl.edu 37 19 37118330 37118330 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 37118330 37118330 C T SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known nonsense c.1531 p.Q511* 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 28 16 36.36 41 0 0.00 ZNF383 163087 genome.wustl.edu 37 19 37733538 37733538 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37733538 37733538 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known missense c.400 p.P134S 0.971 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 47 13 21.67 59 0 0.00 ZNF383 163087 genome.wustl.edu 37 19 37733787 37733787 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37733787 37733787 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known silent c.649 p.L217 0.869 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 21 23 52.27 27 0 0.00 ZNF383 163087 genome.wustl.edu 37 19 37734033 37734033 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37734033 37734033 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known nonsense c.895 p.Q299* 0.041 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 21 10 32.26 24 0 0.00 ZNF383 163087 genome.wustl.edu 37 19 37734225 37734225 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37734225 37734225 G T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known nonsense c.1087 p.E363* 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ENSG00000188283 55 16 22.54 62 0 0.00 ZNF384 171017 genome.wustl.edu 37 12 6776880 6776880 + Nonstop_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 6776880 6776880 C G SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known nonstop c.1734 p.*578Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 49 21 30.00 48 0 0.00 ZNF384 171017 genome.wustl.edu 37 12 6776900 6776900 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 6776900 6776900 C A SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known nonsense c.1714 p.E572* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 258 81 23.89 280 0 0.00 ZNF384 171017 genome.wustl.edu 37 12 6782423 6782423 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6782423 6782423 C T SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known silent c.870 p.E290 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 49 10 16.95 58 0 0.00 ZNF384 171017 genome.wustl.edu 37 12 6787340 6787340 + Silent SNP G G T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 12 6787340 6787340 G T SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known silent c.639 p.L213 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 29 4 12.12 37 0 0.00 ZNF385A 25946 genome.wustl.edu 37 12 54764831 54764831 + Missense_Mutation SNP G G C TCGA-EA-A78R-01A-11D-A32I-09 TCGA-EA-A78R-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 767b4fdb-0aef-4174-bdea-9cba348720a9 8ed78eb9-423e-45b8-8007-22d00b35a620 12 54764831 54764831 G C SNP ZNF385A ENST00000338010 human ensembl 70_37 -1 known missense c.714 p.I238M 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 33 12 26.67 51 0 0.00 ZNF385A 25946 genome.wustl.edu 37 12 54764853 54764853 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 12 54764853 54764853 G A SNP ZNF385A ENST00000338010 human ensembl 70_37 -1 known missense c.692 p.A231V 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 81 56 40.58 112 0 0.00 ZNF385B 151126 genome.wustl.edu 37 2 180306848 180306848 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 180306848 180306848 C T SNP ZNF385B ENST00000466398 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF385B HGNC ENSG00000144331 15 9 37.50 33 0 0.00 ZNF385B 151126 genome.wustl.edu 37 2 180634480 180634480 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 180634480 180634480 C T SNP ZNF385B ENST00000410066 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 40 13 24.53 60 0 0.00 ZNF385D 79750 genome.wustl.edu 37 3 21465528 21465528 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 21465528 21465528 C T SNP ZNF385D ENST00000281523 human ensembl 70_37 -1 known missense c.881 p.R294K 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 14 15 51.72 22 0 0.00 ZNF385D 79750 genome.wustl.edu 37 3 21465554 21465554 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 21465554 21465554 G A SNP ZNF385D ENST00000281523 human ensembl 70_37 -1 known silent c.855 p.H285 1.000 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 31 18 36.73 28 0 0.00 ZNF385D 79750 genome.wustl.edu 37 3 22414020 22414020 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 22414020 22414020 G A SNP ZNF385D ENST00000494108 human ensembl 70_37 -1 known rna NULL NULL 0.178 - - - no_errors ZNF385D HGNC ENSG00000151789 15 20 57.14 34 0 0.00 ZNF391 346157 genome.wustl.edu 37 6 27368923 27368923 + Missense_Mutation SNP C C A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 6 27368923 27368923 C A SNP ZNF391 ENST00000244576 human ensembl 70_37 +1 known missense c.774 p.F258L 0.110 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ENSG00000124613 17 5 22.73 45 0 0.00 ZNF391 346157 genome.wustl.edu 37 6 27369123 27369123 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 27369123 27369123 G T SNP ZNF391 ENST00000244576 human ensembl 70_37 +1 known missense c.974 p.R325I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ENSG00000124613 6 9 60.00 44 0 0.00 ZNF394 84124 genome.wustl.edu 37 7 99091372 99091372 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99091372 99091372 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known missense c.1466 p.R489K 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 59 27 31.40 80 0 0.00 ZNF394 84124 genome.wustl.edu 37 7 99096390 99096390 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99096390 99096390 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known missense c.532 p.D178N 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 38 24 38.71 42 0 0.00 ZNF394 84124 genome.wustl.edu 37 7 99097648 99097648 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99097648 99097648 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known silent c.69 p.A23 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 46 21 31.34 50 0 0.00 ZNF396 252884 genome.wustl.edu 37 18 32954014 32954014 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 32954014 32954014 C T SNP ZNF396 ENST00000589332 human ensembl 70_37 -1 known silent c.243 p.L81 0.999 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ENSG00000186496 47 8 14.55 49 0 0.00 ZNF397 84307 genome.wustl.edu 37 18 32823228 32823228 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32823228 32823228 C T SNP ZNF397 ENST00000330501 human ensembl 70_37 +1 known missense c.527 p.S176F 0.997 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 42 18 30.00 77 0 0.00 ZNF397 84307 genome.wustl.edu 37 18 32823310 32823310 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 18 32823310 32823310 G C SNP ZNF397 ENST00000585800 human ensembl 70_37 +1 known missense c.609 p.L203F 0.083 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 44 36 45.00 54 0 0.00 ZNF397 84307 genome.wustl.edu 37 18 32823310 32823310 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 32823310 32823310 G A SNP ZNF397 ENST00000585800 human ensembl 70_37 +1 known silent c.609 p.L203 0.083 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 36 23 38.98 64 0 0.00 ZNF397 84307 genome.wustl.edu 37 18 32825269 32825270 + Frame_Shift_Ins INS - - T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32825269 32825270 - T INS ZNF397 ENST00000330501 human ensembl 70_37 +1 known frame_shift_ins c.600_601 p.E200fs 0.360:0.412 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 15 7 31.82 35 0 0.00 ZNF397 84307 genome.wustl.edu 37 18 32825270 32825270 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32825270 32825270 G T SNP ZNF397 ENST00000330501 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.412 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 15 7 31.82 35 0 0.00 ZNF398 57541 genome.wustl.edu 37 7 148863295 148863295 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 148863295 148863295 G C SNP ZNF398 ENST00000540950 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 101 30 22.73 202 0 0.00 ZNF398 57541 genome.wustl.edu 37 7 148863947 148863947 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 148863947 148863947 C G SNP ZNF398 ENST00000540950 human ensembl 70_37 +1 known missense c.601 p.Q201E 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 48 6 11.11 77 0 0.00 ZNF404 342908 genome.wustl.edu 37 19 44376971 44376971 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44376971 44376971 T G SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.1395 p.K465N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 12 6 33.33 22 0 0.00 ZNF404 342908 genome.wustl.edu 37 19 44378036 44378036 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 44378036 44378036 C T SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.330 p.M110I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 102 22 17.74 38 0 0.00 ZNF404 342908 genome.wustl.edu 37 19 44378036 44378036 + Missense_Mutation SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a006bbb-6b95-4d82-8d1f-1b416a803c06 7a14d340-4758-457c-8fb0-6239640621b8 19 44378036 44378036 C T SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.330 p.M110I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 205 52 20.23 163 0 0.00 ZNF404 342908 genome.wustl.edu 37 19 44378083 44378083 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 44378083 44378083 C T SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.283 p.E95K 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 68 14 16.87 89 0 0.00 ZNF407 55628 genome.wustl.edu 37 18 72345774 72345774 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 72345774 72345774 G C SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.2799 p.K933N 0.718 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 26 9 25.71 22 0 0.00 ZNF407 55628 genome.wustl.edu 37 18 72345785 72345785 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 72345785 72345785 C T SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.2810 p.S937L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 10 6 37.50 17 0 0.00 ZNF407 55628 genome.wustl.edu 37 18 72775483 72775483 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 72775483 72775483 G A SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.5806 p.D1936N 0.593 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 24 16 40.00 21 0 0.00 ZNF407 55628 genome.wustl.edu 37 18 72775637 72775637 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 72775637 72775637 C T SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.5960 p.S1987L 0.033 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 17 9 34.62 32 0 0.00 ZNF408 79797 genome.wustl.edu 37 11 46726060 46726060 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46726060 46726060 G A SNP ZNF408 ENST00000311764 human ensembl 70_37 +1 known silent c.810 p.Q270 0.674 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 33 15 31.25 39 0 0.00 ZNF408 79797 genome.wustl.edu 37 11 46726695 46726695 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 46726695 46726695 C T SNP ZNF408 ENST00000311764 human ensembl 70_37 +1 known missense c.1445 p.S482F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 43 5 10.42 51 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47307757 47307757 + Missense_Mutation SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 47307757 47307757 T C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1442 p.D481G 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 49 19 27.94 41 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47307793 47307793 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47307793 47307793 C A SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1406 p.R469I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 23 16 41.03 44 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47307881 47307881 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47307881 47307881 G C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1318 p.Q440E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 220 63 22.26 308 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47307961 47307961 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47307961 47307961 T A SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1238 p.K413I 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 22 11 33.33 27 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47308716 47308716 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47308716 47308716 C T SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known silent c.483 p.Q161 0.826 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 31 26 45.61 70 0 0.00 ZNF41 7592 genome.wustl.edu 37 X 47308802 47308802 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47308802 47308802 G C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.397 p.Q133E 0.023 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 19 13 39.39 30 0 0.00 ZNF410 57862 genome.wustl.edu 37 14 74363160 74363160 + Missense_Mutation SNP C C T TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 14 74363160 74363160 C T SNP ZNF410 ENST00000555044 human ensembl 70_37 +1 known missense c.311 p.S104L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 57 26 31.33 60 0 0.00 ZNF410 57862 genome.wustl.edu 37 14 74363169 74363169 + Missense_Mutation SNP C C G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 14 74363169 74363169 C G SNP ZNF410 ENST00000555044 human ensembl 70_37 +1 known missense c.320 p.S107C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 47 24 33.33 60 0 0.00 ZNF410 57862 genome.wustl.edu 37 14 74388869 74388869 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74388869 74388869 G C SNP ZNF410 ENST00000555044 human ensembl 70_37 +1 known missense c.1230 p.L410F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 36 17 32.08 51 0 0.00 ZNF414 84330 genome.wustl.edu 37 19 8578212 8578212 + Nonsense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 8578212 8578212 G C SNP ZNF414 ENST00000393927 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF414 HGNC ENSG00000133250 35 34 49.28 56 0 0.00 ZNF415 55786 genome.wustl.edu 37 19 53611640 53611640 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53611640 53611640 T G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.1802 p.K601T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 26 8 23.53 69 0 0.00 ZNF415 55786 genome.wustl.edu 37 19 53612192 53612192 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53612192 53612192 G C SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known nonsense c.1250 p.S417* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 26 6 18.75 43 0 0.00 ZNF415 55786 genome.wustl.edu 37 19 53612316 53612316 + Missense_Mutation SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 53612316 53612316 A G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.1126 p.Y376H 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 27 21 43.75 76 0 0.00 ZNF415 55786 genome.wustl.edu 37 19 53612640 53612640 + Missense_Mutation SNP C C G TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53612640 53612640 C G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.802 p.E268Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 45 6 11.76 46 0 0.00 ZNF415 55786 genome.wustl.edu 37 19 53619657 53619657 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53619657 53619657 G T SNP ZNF415 ENST00000243643 human ensembl 70_37 -1 known missense c.45 p.F15L 0.052 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF415 HGNC ENSG00000170954 20 4 16.67 43 0 0.00 ZNF416 55659 genome.wustl.edu 37 19 58084776 58084776 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58084776 58084776 C G SNP ZNF416 ENST00000196489 human ensembl 70_37 -1 known missense c.496 p.E166Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 117 45 27.78 116 0 0.00 ZNF417 147687 genome.wustl.edu 37 19 58420610 58420610 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58420610 58420610 G C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.1036 p.H346D 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 99 20 16.81 131 1 0.76 ZNF417 147687 genome.wustl.edu 37 19 58420942 58420942 + Missense_Mutation SNP G G C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 58420942 58420942 G C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.704 p.T235S 0.961 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 34 25 42.37 36 0 0.00 ZNF417 147687 genome.wustl.edu 37 19 58420963 58420963 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58420963 58420963 A C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.683 p.I228S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 24 10 29.41 30 0 0.00 ZNF418 147686 genome.wustl.edu 37 19 58437871 58437871 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58437871 58437871 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.1678 p.H560Y 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 38 24 38.71 44 0 0.00 ZNF418 147686 genome.wustl.edu 37 19 58438080 58438080 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58438080 58438080 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.1469 p.S490L 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 56 9 13.85 57 0 0.00 ZNF418 147686 genome.wustl.edu 37 19 58438814 58438814 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58438814 58438814 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known silent c.735 p.V245 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 108 35 24.48 164 0 0.00 ZNF418 147686 genome.wustl.edu 37 19 58439073 58439073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58439073 58439073 G C SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.476 p.S159C 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 53 38 41.76 84 0 0.00 ZNF419 79744 genome.wustl.edu 37 19 58004285 58004285 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 58004285 58004285 C G SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known silent c.363 p.L121 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 68 8 10.53 54 0 0.00 ZNF419 79744 genome.wustl.edu 37 19 58004450 58004450 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58004450 58004450 C T SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known silent c.528 p.L176 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 40 18 31.03 63 0 0.00 ZNF419 79744 genome.wustl.edu 37 19 58004475 58004475 + Missense_Mutation SNP G G C TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4612db5e-d3f3-48a6-9349-f94cbf9b8d3d 13cc40ed-7de6-42ff-885b-bd6965e8d657 19 58004475 58004475 G C SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.553 p.E185Q 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 30 6 16.67 41 0 0.00 ZNF419 79744 genome.wustl.edu 37 19 58004813 58004813 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 58004813 58004813 C G SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.891 p.F297L 0.042 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 37 22 37.29 36 0 0.00 ZNF419 79744 genome.wustl.edu 37 19 58005234 58005234 + Missense_Mutation SNP A A T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 58005234 58005234 A T SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.1312 p.S438C 0.032 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 37 16 30.19 48 0 0.00 ZNF420 147923 genome.wustl.edu 37 19 37619728 37619728 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37619728 37619728 A G SNP ZNF420 ENST00000337995 human ensembl 70_37 +1 known missense c.1835 p.E612G 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 28 10 26.32 32 0 0.00 ZNF420 147923 genome.wustl.edu 37 19 37619729 37619729 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 37619729 37619729 G C SNP ZNF420 ENST00000337995 human ensembl 70_37 +1 known missense c.1836 p.E612D 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 21 22 51.16 43 0 0.00 ZNF423 23090 genome.wustl.edu 37 16 49670174 49670174 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 49670174 49670174 G C SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.2889 p.I963M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 26 4 13.33 29 0 0.00 ZNF423 23090 genome.wustl.edu 37 16 49671685 49671685 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 49671685 49671685 C A SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.1378 p.V460F 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 8 35 81.40 88 0 0.00 ZNF423 23090 genome.wustl.edu 37 16 49671686 49671686 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 49671686 49671686 G A SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known silent c.1377 p.H459 0.999 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 25 14 35.90 31 0 0.00 ZNF423 23090 genome.wustl.edu 37 16 49671713 49671713 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 49671713 49671713 C T SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.1350 p.M450I 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 82 43 34.13 145 0 0.00 ZNF423 23090 genome.wustl.edu 37 16 49672168 49672168 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 49672168 49672168 G C SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.895 p.H299D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 29 30 50.85 47 0 0.00 ZNF425 155054 genome.wustl.edu 37 7 148801459 148801459 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 148801459 148801459 C G SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known missense c.1504 p.E502Q 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 26 14 35.00 42 0 0.00 ZNF425 155054 genome.wustl.edu 37 7 148802620 148802620 + Missense_Mutation SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 148802620 148802620 G T SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known missense c.343 p.R115S 0.013 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 23 10 30.30 53 0 0.00 ZNF425 155054 genome.wustl.edu 37 7 148802632 148802632 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 148802632 148802632 C A SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known nonsense c.331 p.E111* 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 20 13 39.39 37 0 0.00 ZNF429 353088 genome.wustl.edu 37 19 21712561 21712561 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21712561 21712561 G A SNP ZNF429 ENST00000597078 human ensembl 70_37 +1 putative silent c.105 p.E35 0.387 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 68 19 21.84 72 0 0.00 ZNF429 353088 genome.wustl.edu 37 19 21720389 21720389 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21720389 21720389 G A SNP ZNF429 ENST00000358491 human ensembl 70_37 +1 novel missense c.1534 p.E512K 0.019 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 20 8 28.57 32 0 0.00 ZNF429 353088 genome.wustl.edu 37 19 21720463 21720463 + Silent SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 21720463 21720463 T C SNP ZNF429 ENST00000358491 human ensembl 70_37 +1 novel silent c.1608 p.P536 0.053 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 82 10 10.87 26 0 0.00 ZNF43 7594 genome.wustl.edu 37 19 21990581 21990583 + In_Frame_Del DEL TTA TTA - TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 TTA TTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61d65c7-571b-4df4-b260-91ce59d6c29c d95c0a8b-ee27-4fc5-a963-53a9d5174c19 19 21990581 21990583 TTA - DEL ZNF43 ENST00000354959 human ensembl 70_37 -1 known in_frame_del c.2258_2256 p.HK752in_frame_delQ 0.695:0.699:0.734 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 14 3 17.65 95 0 0.00 ZNF43 7594 genome.wustl.edu 37 19 21991061 21991061 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 21991061 21991061 A G SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.1778 p.F593S 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 102 15 12.71 29 0 0.00 ZNF43 7594 genome.wustl.edu 37 19 21991062 21991062 + Missense_Mutation SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 21991062 21991062 A G SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.1777 p.F593L 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 102 16 13.56 29 0 0.00 ZNF43 7594 genome.wustl.edu 37 19 21992363 21992363 + Missense_Mutation SNP G G A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 21992363 21992363 G A SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.476 p.S159L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 35 13 27.08 57 0 0.00 ZNF43 7594 genome.wustl.edu 37 19 21992472 21992472 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 21992472 21992472 C G SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.367 p.E123Q 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 57 21 26.92 67 0 0.00 ZNF430 80264 genome.wustl.edu 37 19 21240265 21240265 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 21240265 21240265 G A SNP ZNF430 ENST00000261560 human ensembl 70_37 +1 known missense c.1151 p.R384Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF430 HGNC ENSG00000118620 17 23 57.50 15 0 0.00 ZNF431 170959 genome.wustl.edu 37 19 21365885 21365885 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 21365885 21365885 T A SNP ZNF431 ENST00000311048 human ensembl 70_37 +1 known missense c.779 p.F260Y 0.172 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 114 13 10.16 38 0 0.00 ZNF432 9668 genome.wustl.edu 37 19 52537254 52537254 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 52537254 52537254 G A SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known nonsense c.1678 p.Q560* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 20 14 41.18 28 0 0.00 ZNF432 9668 genome.wustl.edu 37 19 52537665 52537665 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 52537665 52537665 G C SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known missense c.1267 p.H423D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 64 31 32.63 60 0 0.00 ZNF432 9668 genome.wustl.edu 37 19 52538020 52538020 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 52538020 52538020 G C SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known silent c.912 p.L304 0.987 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 42 17 28.81 74 0 0.00 ZNF433 163059 genome.wustl.edu 37 19 12125757 12125757 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 12125757 12125757 C G SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.1925 p.G642A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 18 35 66.04 101 0 0.00 ZNF433 163059 genome.wustl.edu 37 19 12125837 12125837 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12125837 12125837 C A SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.1845 p.E615D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 21 4 16.00 38 0 0.00 ZNF433 163059 genome.wustl.edu 37 19 12127285 12127285 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 12127285 12127285 C G SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.397 p.E133Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 28 13 31.71 50 0 0.00 ZNF433 163059 genome.wustl.edu 37 19 12127369 12127369 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 12127369 12127369 C T SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.313 p.E105K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 58 10 14.71 74 0 0.00 ZSCAN32 54925 genome.wustl.edu 37 16 3433401 3433401 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 3433401 3433401 G C SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known silent c.1545 p.L515 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 102 31 23.13 178 0 0.00 ZSCAN32 54925 genome.wustl.edu 37 16 3433692 3433692 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 3433692 3433692 C G SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known missense c.1254 p.E418D 0.012 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 14 9 39.13 12 0 0.00 ZSCAN32 54925 genome.wustl.edu 37 16 3434520 3434520 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3434520 3434520 G A SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known silent c.1173 p.F391 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 65 28 30.11 83 0 0.00 ZSCAN32 54925 genome.wustl.edu 37 16 3443715 3443715 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3443715 3443715 G A SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known nonsense c.466 p.Q156* 0.005 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 51 33 39.29 108 0 0.00 ZNF436 80818 genome.wustl.edu 37 1 23688685 23688685 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 23688685 23688685 C T SNP ZNF436 ENST00000314011 human ensembl 70_37 -1 known missense c.1190 p.R397Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF436 HGNC ENSG00000125945 46 15 24.59 69 0 0.00 ZNF436 80818 genome.wustl.edu 37 1 23689691 23689691 + Missense_Mutation SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 23689691 23689691 C T SNP ZNF436 ENST00000314011 human ensembl 70_37 -1 known missense c.184 p.E62K 0.956 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF436 HGNC ENSG00000125945 49 10 16.95 50 0 0.00 ZNF439 90594 genome.wustl.edu 37 19 11978581 11978581 + Nonsense_Mutation SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 11978581 11978581 G T SNP ZNF439 ENST00000304030 human ensembl 70_37 +1 known nonsense c.697 p.E233* 0.537 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 83 33 28.45 130 0 0.00 ZNF439 90594 genome.wustl.edu 37 19 11979141 11979141 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11979141 11979141 C G SNP ZNF439 ENST00000304030 human ensembl 70_37 +1 known missense c.1257 p.F419L 0.629 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 31 24 43.64 67 0 0.00 ZNF44 51710 genome.wustl.edu 37 19 12359151 12359151 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 12359151 12359151 G A SNP ZNF44 ENST00000426973 human ensembl 70_37 -1 known silent c.564 p.F188 0.029 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 32 13 28.89 61 0 0.00 ZNF44 51710 genome.wustl.edu 37 19 12384320 12384320 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 12384320 12384320 C T SNP ZNF44 ENST00000393337 human ensembl 70_37 -1 known silent c.894 p.E298 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 71 48 40.34 98 0 0.00 ZNF440 126070 genome.wustl.edu 37 19 11942452 11942452 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 11942452 11942452 G C SNP ZNF440 ENST00000304060 human ensembl 70_37 +1 known missense c.461 p.R154T 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 31 18 36.73 61 0 0.00 ZNF440 126070 genome.wustl.edu 37 19 11942915 11942916 + Frame_Shift_Ins INS - - A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 11942915 11942916 - A INS ZNF440 ENST00000304060 human ensembl 70_37 +1 known frame_shift_ins c.924_925 p.N309fs 0.999:1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 50 20 28.57 46 0 0.00 ZNF440 126070 genome.wustl.edu 37 19 11942995 11942995 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11942995 11942995 C T SNP ZNF440 ENST00000304060 human ensembl 70_37 +1 known missense c.1004 p.S335F 0.980 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 74 14 15.91 69 0 0.00 ZNF441 126068 genome.wustl.edu 37 19 11891039 11891039 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11891039 11891039 C T SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known nonsense c.400 p.Q134* 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 30 8 20.51 45 0 0.00 ZNF441 126068 genome.wustl.edu 37 19 11891117 11891117 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11891117 11891117 G C SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known missense c.478 p.E160Q 0.000 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 29 19 39.58 47 0 0.00 ZNF441 126068 genome.wustl.edu 37 19 11891225 11891225 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11891225 11891225 C T SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known missense c.586 p.R196C 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 29 6 17.14 32 0 0.00 ZNF441 126068 genome.wustl.edu 37 19 11891821 11891821 + Silent SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 11891821 11891821 T C SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known silent c.1182 p.C394 0.138 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 60 10 14.29 63 0 0.00 ZNF442 79973 genome.wustl.edu 37 19 12461054 12461054 + Nonsense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 12461054 12461054 G A SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known nonsense c.1345 p.R449* 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 39 28 41.79 45 0 0.00 ZNF442 79973 genome.wustl.edu 37 19 12461293 12461293 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 12461293 12461293 C G SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known missense c.1106 p.R369T 0.940 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 198 82 29.29 210 0 0.00 ZNF442 79973 genome.wustl.edu 37 19 12461533 12461533 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 12461533 12461533 C T SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known missense c.866 p.G289E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 90 98 52.13 289 0 0.00 ZNF443 10224 genome.wustl.edu 37 19 12542024 12542024 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12542024 12542024 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.962 p.S321F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 133 51 27.72 139 0 0.00 ZNF443 10224 genome.wustl.edu 37 19 12542024 12542024 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12542024 12542024 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.962 p.S321F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 35 17 32.69 39 0 0.00 ZNF443 10224 genome.wustl.edu 37 19 12542059 12542059 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12542059 12542059 A G SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known silent c.927 p.Y309 0.058 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 19 16 45.71 68 0 0.00 ZNF443 10224 genome.wustl.edu 37 19 12542452 12542452 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 12542452 12542452 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known silent c.534 p.F178 0.218 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 72 28 28.00 83 0 0.00 ZNF443 10224 genome.wustl.edu 37 19 12542517 12542517 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 12542517 12542517 G C SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.469 p.Q157E 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 60 24 28.57 77 0 0.00 ZNF445 353274 genome.wustl.edu 37 3 44488964 44488964 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 44488964 44488964 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.2199 p.M733I 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 21 5 19.23 36 0 0.00 ZNF445 353274 genome.wustl.edu 37 3 44489008 44489008 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 44489008 44489008 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.2155 p.A719T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 16 9 36.00 21 0 0.00 ZNF445 353274 genome.wustl.edu 37 3 44490124 44490124 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 44490124 44490124 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.995 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 123 23 15.75 181 0 0.00 ZNF446 55663 genome.wustl.edu 37 19 58989542 58989542 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 58989542 58989542 G A SNP ZNF446 ENST00000594369 human ensembl 70_37 +1 known silent c.621 p.R207 0.998 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 70 33 31.73 40 0 0.00 ZNF449 203523 genome.wustl.edu 37 X 134483047 134483047 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 134483047 134483047 G A SNP ZNF449 ENST00000339249 human ensembl 70_37 +1 known missense c.367 p.D123N 0.141 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 36 14 28.00 48 0 0.00 ZNF449 203523 genome.wustl.edu 37 X 134493904 134493904 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134493904 134493904 T G SNP ZNF449 ENST00000339249 human ensembl 70_37 +1 known missense c.647 p.M216R 0.983 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 22 15 40.54 50 0 0.00 ZNF45 7596 genome.wustl.edu 37 19 44418081 44418081 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 44418081 44418081 C T SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known missense c.1507 p.E503K 0.023 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 75 17 18.48 48 0 0.00 ZNF45 7596 genome.wustl.edu 37 19 44418462 44418462 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 44418462 44418462 G A SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 0.100 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 9 8 47.06 46 0 0.00 ZNF45 7596 genome.wustl.edu 37 19 44418649 44418649 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 44418649 44418649 G A SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known silent c.939 p.F313 0.620 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 36 23 38.98 43 0 0.00 ZNF451 26036 genome.wustl.edu 37 6 56966866 56966866 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56966866 56966866 C G SNP ZNF451 ENST00000370708 human ensembl 70_37 +1 known missense c.1652 p.S551C 0.989 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 40 14 25.93 29 0 0.00 ZNF451 26036 genome.wustl.edu 37 6 56993563 56993563 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56993563 56993563 G T SNP ZNF451 ENST00000370706 human ensembl 70_37 +1 known nonsense c.349 p.E117* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 12 9 42.86 48 0 0.00 ZNF454 285676 genome.wustl.edu 37 5 178391810 178391810 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 178391810 178391810 C G SNP ZNF454 ENST00000320129 human ensembl 70_37 +1 known missense c.405 p.I135M 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 18 17 48.57 48 0 0.00 ZNF454 285676 genome.wustl.edu 37 5 178392175 178392175 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 178392175 178392175 C T SNP ZNF454 ENST00000320129 human ensembl 70_37 +1 known missense c.770 p.S257F 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 83 20 19.42 86 0 0.00 ZNF461 92283 genome.wustl.edu 37 19 37128584 37128585 + RNA INS - - A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 37128584 37128585 - A INS ZNF461 ENST00000589442 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.035 - - - no_errors ZNF461 HGNC ENSG00000197808 18 3 14.29 19 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109688129 109688129 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 109688129 109688129 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.1936 p.D646Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 31 11 26.19 31 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109689443 109689443 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 109689443 109689443 G A SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.3250 p.E1084K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 3 6 66.67 16 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109690314 109690314 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 109690314 109690314 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.4121 p.C1374F 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 108 57 34.55 215 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109691272 109691272 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 109691272 109691272 G A SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known silent c.5079 p.K1693 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 15 17 53.12 23 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109691647 109691647 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 109691647 109691647 C T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known silent c.5454 p.P1818 0.014 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 6 4 40.00 15 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109691939 109691939 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 109691939 109691939 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known nonsense c.5746 p.E1916* 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 23 4 14.81 48 0 0.00 ZNF462 58499 genome.wustl.edu 37 9 109701337 109701337 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 9 109701337 109701337 C T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.6556 p.H2186Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 22 8 26.67 66 0 0.00 ZNF467 168544 genome.wustl.edu 37 7 149461892 149461892 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 149461892 149461892 C T SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.1699 p.E567K 0.021 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 29 32 52.46 35 0 0.00 ZNF467 168544 genome.wustl.edu 37 7 149462120 149462120 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 7 149462120 149462120 G C SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.1471 p.Q491E 0.736 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 18 7 28.00 27 0 0.00 ZNF467 168544 genome.wustl.edu 37 7 149462767 149462767 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149462767 149462767 G T SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.824 p.T275K 0.031 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 28 4 12.50 35 0 0.00 ZNF467 168544 genome.wustl.edu 37 7 149466212 149466212 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149466212 149466212 C G SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.229 p.A77P 0.862 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 28 6 17.65 25 0 0.00 ZNF468 90333 genome.wustl.edu 37 19 53344188 53344188 + Missense_Mutation SNP G G T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 19 53344188 53344188 G T SNP ZNF468 ENST00000595646 human ensembl 70_37 -1 known missense c.1359 p.H453Q 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF468 HGNC ENSG00000204604 31 22 41.51 52 0 0.00 ZNF468 90333 genome.wustl.edu 37 19 53344528 53344528 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53344528 53344528 G A SNP ZNF468 ENST00000595646 human ensembl 70_37 -1 known missense c.1019 p.S340L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF468 HGNC ENSG00000204604 30 22 42.31 66 0 0.00 ZNF468 90333 genome.wustl.edu 37 19 53344689 53344689 + Silent SNP G G C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 53344689 53344689 G C SNP ZNF468 ENST00000595646 human ensembl 70_37 -1 known silent c.858 p.L286 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF468 HGNC ENSG00000204604 52 20 27.78 69 0 0.00 ZNF469 84627 genome.wustl.edu 37 16 88498394 88498394 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 88498394 88498394 G A SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.4432 p.E1478K 0.041 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 29 19 39.58 45 0 0.00 ZNF469 84627 genome.wustl.edu 37 16 88498918 88498918 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 88498918 88498918 T G SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known silent c.4956 p.V1652 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 18 8 30.77 29 0 0.00 ZNF469 84627 genome.wustl.edu 37 16 88499327 88499327 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 88499327 88499327 C G SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.5365 p.L1789V 0.741 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 45 22 32.84 52 0 0.00 ZNF469 84627 genome.wustl.edu 37 16 88499969 88499969 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88499969 88499969 G C SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.6007 p.E2003Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 50 19 27.54 55 0 0.00 ZNF469 84627 genome.wustl.edu 37 16 88501328 88501328 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 16 88501328 88501328 G A SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.7366 p.G2456R 0.001 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 15 5 25.00 35 0 0.00 ZNF470 388566 genome.wustl.edu 37 19 57085838 57085838 + Missense_Mutation SNP A A C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 57085838 57085838 A C SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.136 p.S46R 0.945 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 89 23 20.54 59 0 0.00 ZNF470 388566 genome.wustl.edu 37 19 57088188 57088188 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 57088188 57088188 G C SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.391 p.E131Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 16 10 38.46 15 0 0.00 ZNF470 388566 genome.wustl.edu 37 19 57088530 57088530 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 57088530 57088530 C T SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.733 p.L245F 0.017 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 52 19 26.76 32 0 0.00 ZNF470 388566 genome.wustl.edu 37 19 57088530 57088530 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 57088530 57088530 C T SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.733 p.L245F 0.017 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 69 31 31.00 79 0 0.00 ZNF470 388566 genome.wustl.edu 37 19 57088790 57088790 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 57088790 57088790 G A SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known silent c.993 p.Q331 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 35 7 16.67 37 0 0.00 ZNF471 57573 genome.wustl.edu 37 19 57036219 57036219 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57036219 57036219 C G SNP ZNF471 ENST00000591537 human ensembl 70_37 +1 putative missense c.362 p.S121C 0.895 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 3 4 57.14 26 0 0.00 ZNF471 57573 genome.wustl.edu 37 19 57036445 57036445 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57036445 57036445 C G SNP ZNF471 ENST00000308031 human ensembl 70_37 +1 known missense c.1009 p.Q337E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 17 6 26.09 23 0 0.00 ZNF473 25888 genome.wustl.edu 37 19 50549917 50549917 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 50549917 50549917 C T SNP ZNF473 ENST00000270617 human ensembl 70_37 +1 known silent c.2217 p.F739 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 32 14 30.43 28 0 0.00 ZNF473 25888 genome.wustl.edu 37 19 50550144 50550144 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 50550144 50550144 C T SNP ZNF473 ENST00000270617 human ensembl 70_37 +1 known missense c.2444 p.S815F 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 34 9 20.45 33 0 0.00 ZNF473 25888 genome.wustl.edu 37 19 50550227 50550227 + Nonsense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 50550227 50550227 C T SNP ZNF473 ENST00000270617 human ensembl 70_37 +1 known nonsense c.2527 p.Q843* 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 37 5 11.90 45 0 0.00 ZNF474 133923 genome.wustl.edu 37 5 121488160 121488160 + Nonsense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 121488160 121488160 C T SNP ZNF474 ENST00000296600 human ensembl 70_37 +1 known nonsense c.475 p.Q159* 0.845 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 18 9 33.33 21 0 0.00 ZNF479 90827 genome.wustl.edu 37 7 57188077 57188077 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 57188077 57188077 T C SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.1045 p.R349G 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 57 8 12.31 26 0 0.00 ZNF479 90827 genome.wustl.edu 37 7 57188193 57188193 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 57188193 57188193 G C SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known nonsense c.929 p.S310* 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 60 15 19.74 75 0 0.00 ZNF479 90827 genome.wustl.edu 37 7 57188264 57188264 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8796c74-495c-460b-9787-199170dfef8d 6bb8b840-0027-4610-b4c8-2c79aeb77c26 7 57188264 57188264 G T SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.858 p.N286K 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 61 12 16.44 111 0 0.00 ZNF479 90827 genome.wustl.edu 37 7 57188757 57188757 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 57188757 57188757 T G SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.365 p.K122T 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 30 22 42.31 105 0 0.00 ZNF479 90827 genome.wustl.edu 37 7 57188853 57188853 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 57188853 57188853 C T SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.269 p.R90H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 31 18 36.73 36 0 0.00 ZNF48 197407 genome.wustl.edu 37 16 30409039 30409039 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30409039 30409039 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.468 p.I156 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 44 15 25.42 33 0 0.00 ZNF48 197407 genome.wustl.edu 37 16 30409619 30409619 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30409619 30409619 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known missense c.1048 p.L350F 0.988 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 41 11 21.15 35 0 0.00 ZNF48 197407 genome.wustl.edu 37 16 30409621 30409621 + Silent SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 30409621 30409621 C G SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.1050 p.L350 0.975 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 17 12 41.38 29 0 0.00 ZNF48 197407 genome.wustl.edu 37 16 30409622 30409622 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 30409622 30409622 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known missense c.1051 p.R351C 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 33 11 25.00 42 0 0.00 ZNF48 197407 genome.wustl.edu 37 16 30409681 30409681 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 30409681 30409681 C G SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.1110 p.L370 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 39 6 13.33 33 0 0.00 ZNF480 147657 genome.wustl.edu 37 19 52803701 52803701 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52803701 52803701 G A SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known silent c.36 p.K12 0.044 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 97 35 26.52 163 0 0.00 ZNF480 147657 genome.wustl.edu 37 19 52819093 52819093 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 52819093 52819093 C G SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known missense c.206 p.S69C 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 34 28 45.16 42 0 0.00 ZNF480 147657 genome.wustl.edu 37 19 52825335 52825335 + Nonsense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 52825335 52825335 C T SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known nonsense c.832 p.Q278* 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 60 52 46.43 75 0 0.00 ZNF483 158399 genome.wustl.edu 37 9 114290024 114290024 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 114290024 114290024 C T SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.349 p.P117S 0.512 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 30 4 11.76 32 0 0.00 ZNF483 158399 genome.wustl.edu 37 9 114296561 114296561 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 9 114296561 114296561 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.649 p.E217K 0.097 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 38 19 33.33 95 0 0.00 ZNF483 158399 genome.wustl.edu 37 9 114304503 114304503 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 9 114304503 114304503 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.1288 p.E430K 0.106 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 8 9 52.94 12 0 0.00 ZNF483 158399 genome.wustl.edu 37 9 114304895 114304895 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 114304895 114304895 C T SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known silent c.1680 p.F560 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 47 21 30.88 64 0 0.00 ZNF483 158399 genome.wustl.edu 37 9 114305025 114305025 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 114305025 114305025 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.1810 p.E604K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 59 22 27.16 78 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95608983 95608983 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 95608983 95608983 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.2092 p.E698K 0.987 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 48 17 26.15 49 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95609151 95609151 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 95609151 95609151 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.1924 p.E642K 0.909 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 30 5 14.29 38 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95609789 95609789 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 95609789 95609789 A C SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.1286 p.F429C 0.809 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 16 4 20.00 31 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95609815 95609815 + Silent SNP C C T TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 9 95609815 95609815 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known silent c.1260 p.G420 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 45 10 18.18 29 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95610231 95610231 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95610231 95610231 C A SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known nonsense c.844 p.E282* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 87 27 23.68 138 0 0.00 ZNF484 83744 genome.wustl.edu 37 9 95610246 95610246 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95610246 95610246 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.829 p.E277K 0.997 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 22 13 36.11 38 0 0.00 ZNF485 220992 genome.wustl.edu 37 10 44112470 44112470 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 10 44112470 44112470 C G SNP ZNF485 ENST00000361807 human ensembl 70_37 +1 known missense c.979 p.H327D 0.709 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF485 HGNC ENSG00000198298 20 11 35.48 27 0 0.00 ZNF486 90649 genome.wustl.edu 37 19 20295210 20295210 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 20295210 20295210 G A SNP ZNF486 ENST00000335117 human ensembl 70_37 +1 known missense c.76 p.E26K 0.127 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 102 26 20.31 157 0 0.00 ZNF486 90649 genome.wustl.edu 37 19 20308380 20308380 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 20308380 20308380 C T SNP ZNF486 ENST00000335117 human ensembl 70_37 +1 known silent c.861 p.I287 0.086 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 70 8 10.13 27 0 0.00 ZNF486 90649 genome.wustl.edu 37 19 20308812 20308812 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 20308812 20308812 G A SNP ZNF486 ENST00000335117 human ensembl 70_37 +1 known silent c.1293 p.E431 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 30 10 25.00 43 0 0.00 ZNF488 118738 genome.wustl.edu 37 10 48370600 48370600 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 48370600 48370600 G C SNP ZNF488 ENST00000395702 human ensembl 70_37 +1 known missense c.68 p.G23A 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 44 17 27.87 67 0 0.00 ZNF490 57474 genome.wustl.edu 37 19 12721468 12721468 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 12721468 12721468 G A SNP ZNF490 ENST00000311437 human ensembl 70_37 -1 known silent c.27 p.F9 0.155 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF490 HGNC ENSG00000188033 22 16 42.11 15 0 0.00 ZNF491 126069 genome.wustl.edu 37 19 11917006 11917006 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 11917006 11917006 C T SNP ZNF491 ENST00000323169 human ensembl 70_37 +1 known missense c.238 p.R80C 0.242 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 36 120 75.95 126 0 0.00 ZNF491 126069 genome.wustl.edu 37 19 11917970 11917971 + Frame_Shift_Ins INS - - T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 11917970 11917971 - T INS ZNF491 ENST00000323169 human ensembl 70_37 +1 known frame_shift_ins c.1202_1203 p.E402fs 0.047:0.010 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 19 21 52.50 36 0 0.00 ZNF492 57615 genome.wustl.edu 37 19 22846669 22846669 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 22846669 22846669 G A SNP ZNF492 ENST00000456783 human ensembl 70_37 +1 known silent c.198 p.V66 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 22 10 31.25 51 0 0.00 ZNF492 57615 genome.wustl.edu 37 19 22847093 22847093 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 22847093 22847093 C T SNP ZNF492 ENST00000456783 human ensembl 70_37 +1 known missense c.622 p.R208W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 2 12 85.71 36 0 0.00 ZNF492 57615 genome.wustl.edu 37 19 22847759 22847759 + Missense_Mutation SNP T T A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 22847759 22847759 T A SNP ZNF492 ENST00000456783 human ensembl 70_37 +1 known missense c.1288 p.F430I 0.139 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 28 16 36.36 30 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21588589 21588589 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 21588589 21588589 G A SNP ZNF493 ENST00000596302 human ensembl 70_37 +1 putative missense c.187 p.V63I 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF493 HGNC ENSG00000196268 65 8 10.96 56 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21606171 21606171 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 21606171 21606171 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.326 p.S109F 0.825 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 45 11 19.64 71 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21606431 21606431 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 21606431 21606431 G T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.586 p.E196* 0.094 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 16 10 38.46 40 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21607218 21607218 + Nonsense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 21607218 21607218 C G SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.1373 p.S458* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 30 31 50.82 72 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21607218 21607218 + Nonsense_Mutation SNP C C G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 21607218 21607218 C G SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.1373 p.S458* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 33 20 37.74 40 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21607379 21607379 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 21607379 21607379 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.1534 p.R512W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 42 30 41.67 101 0 0.00 ZNF493 284443 genome.wustl.edu 37 19 21607379 21607379 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 21607379 21607379 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.1534 p.R512W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 7 4 36.36 21 0 0.00 ZNF496 84838 genome.wustl.edu 37 1 247471184 247471184 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 247471184 247471184 C T SNP ZNF496 ENST00000465126 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors ZNF496 HGNC ENSG00000162714 59 31 34.07 36 0 0.00 ZNF496 84838 genome.wustl.edu 37 1 247492545 247492545 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 247492545 247492545 C T SNP ZNF496 ENST00000366498 human ensembl 70_37 -1 known silent c.336 p.Q112 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 48 7 12.73 64 0 0.00 ZNF496 84838 genome.wustl.edu 37 1 247492661 247492661 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 247492661 247492661 C T SNP ZNF496 ENST00000366498 human ensembl 70_37 -1 known missense c.220 p.E74K 0.268 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 36 16 30.77 44 0 0.00 ZNF500 26048 genome.wustl.edu 37 16 4812281 4812281 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 4812281 4812281 G A SNP ZNF500 ENST00000219478 human ensembl 70_37 -1 known silent c.654 p.A218 0.987 superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 36 11 23.40 27 0 0.00 ZNF501 115560 genome.wustl.edu 37 3 44776204 44776204 + Silent SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 3 44776204 44776204 G C SNP ZNF501 ENST00000396048 human ensembl 70_37 +1 known silent c.291 p.L97 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 11 6 35.29 17 0 0.00 ZNF501 115560 genome.wustl.edu 37 3 44776538 44776538 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 44776538 44776538 G C SNP ZNF501 ENST00000396048 human ensembl 70_37 +1 known missense c.625 p.E209Q 0.694 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 27 8 22.86 47 0 0.00 ZNF502 91392 genome.wustl.edu 37 3 44762970 44762970 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44762970 44762970 C T SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known nonsense c.661 p.R221* 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 12 4 25.00 22 0 0.00 ZNF502 91392 genome.wustl.edu 37 3 44763337 44763337 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44763337 44763337 G T SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known missense c.1028 p.R343I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 7 3 30.00 18 0 0.00 ZNF502 91392 genome.wustl.edu 37 3 44763338 44763338 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44763338 44763338 A C SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known missense c.1029 p.R343S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 7 3 30.00 18 0 0.00 ZNF506 440515 genome.wustl.edu 37 19 19905635 19905635 + Nonsense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 19905635 19905635 G C SNP ZNF506 ENST00000443905 human ensembl 70_37 -1 known nonsense c.1061 p.S354* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 22 16 39.02 38 0 0.00 ZNF506 440515 genome.wustl.edu 37 19 19905766 19905766 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 19905766 19905766 C G SNP ZNF506 ENST00000443905 human ensembl 70_37 -1 known missense c.930 p.E310D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 11 13 54.17 32 0 0.00 ZNF507 22847 genome.wustl.edu 37 19 32838121 32838121 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 32838121 32838121 G C SNP ZNF507 ENST00000588686 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF507 HGNC ENSG00000168813 15 7 31.82 13 0 0.00 ZNF507 22847 genome.wustl.edu 37 19 32843799 32843799 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 32843799 32843799 G A SNP ZNF507 ENST00000311921 human ensembl 70_37 +1 known silent c.63 p.L21 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 34 7 17.07 35 0 0.00 ZNF507 22847 genome.wustl.edu 37 19 32845666 32845666 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 32845666 32845666 C T SNP ZNF507 ENST00000311921 human ensembl 70_37 +1 known missense c.1930 p.R644C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 32 20 38.46 58 0 0.00 ZNF507 22847 genome.wustl.edu 37 19 32873985 32873985 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 32873985 32873985 A T SNP ZNF507 ENST00000311921 human ensembl 70_37 +1 known missense c.2858 p.N953I 0.986 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 12 7 36.84 18 0 0.00 ZNF510 22869 genome.wustl.edu 37 9 99522049 99522049 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 99522049 99522049 G A SNP ZNF510 ENST00000223428 human ensembl 70_37 -1 known nonsense c.1063 p.Q355* 0.091 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF510 HGNC ENSG00000081386 13 11 45.83 25 0 0.00 ZNF510 22869 genome.wustl.edu 37 9 99525475 99525475 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 99525475 99525475 C G SNP ZNF510 ENST00000223428 human ensembl 70_37 -1 known missense c.277 p.E93Q 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF510 HGNC ENSG00000081386 11 15 57.69 42 0 0.00 ZNF511 118472 genome.wustl.edu 37 10 135125334 135125334 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 135125334 135125334 C A SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known silent c.474 p.I158 0.012 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 100 42 29.58 186 0 0.00 ZNF511 118472 genome.wustl.edu 37 10 135125361 135125361 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 135125361 135125361 C T SNP ZNF511 ENST00000359035 human ensembl 70_37 +1 known silent c.696 p.L232 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 106 50 32.05 192 0 0.00 ZNF511 118472 genome.wustl.edu 37 10 135165615 135165615 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 135165615 135165615 G A SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known missense c.710 p.R237Q 0.003 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 42 23 35.38 103 0 0.00 ZNF511 118472 genome.wustl.edu 37 10 135165620 135165620 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 10 135165620 135165620 C G SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known missense c.715 p.Q239E 0.001 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 53 30 36.14 61 0 0.00 ZNF512 84450 genome.wustl.edu 37 2 27830880 27830880 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27830880 27830880 C G SNP ZNF512 ENST00000355467 human ensembl 70_37 +1 known missense c.1105 p.Q369E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 61 25 29.07 58 0 0.00 ZNF512B 57473 genome.wustl.edu 37 20 62595898 62595898 + Silent SNP C C T TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8016a3d-d2e9-45ba-ac10-9587913f76ef 5e78de9c-5e9e-4a85-9952-cacd7592adad 20 62595898 62595898 C T SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known silent c.1206 p.L402 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 41 9 18.00 33 0 0.00 ZNF512B 57473 genome.wustl.edu 37 20 62595998 62595998 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 62595998 62595998 G A SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known missense c.1106 p.P369L 0.747 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 28 5 15.15 49 0 0.00 ZNF512B 57473 genome.wustl.edu 37 20 62598315 62598315 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 62598315 62598315 A G SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known missense c.307 p.S103P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 37 7 15.91 53 0 0.00 ZNF513 130557 genome.wustl.edu 37 2 27600419 27600419 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 27600419 27600419 G A SNP ZNF513 ENST00000323703 human ensembl 70_37 -1 known missense c.1619 p.S540L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 29 16 35.56 72 0 0.00 ZNF514 84874 genome.wustl.edu 37 2 95815401 95815401 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 95815401 95815401 G A SNP ZNF514 ENST00000295208 human ensembl 70_37 -1 known silent c.829 p.L277 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 22 16 42.11 34 0 0.00 ZNF516 9658 genome.wustl.edu 37 18 74074245 74074245 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 74074245 74074245 T C SNP ZNF516 ENST00000524431 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors ZNF516 HGNC ENSG00000101493 11 6 35.29 13 0 0.00 ZNF516 9658 genome.wustl.edu 37 18 74092249 74092249 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 74092249 74092249 C T SNP ZNF516 ENST00000443185 human ensembl 70_37 -1 known silent c.1821 p.P607 0.062 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 39 5 11.36 63 0 0.00 ZNF516 9658 genome.wustl.edu 37 18 74154300 74154300 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74154300 74154300 C G SNP ZNF516 ENST00000443185 human ensembl 70_37 -1 known missense c.711 p.E237D 0.980 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 41 6 12.77 44 0 0.00 ZNF517 340385 genome.wustl.edu 37 8 146032959 146032959 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 146032959 146032959 C T SNP ZNF517 ENST00000359971 human ensembl 70_37 +1 known silent c.658 p.L220 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF517 HGNC ENSG00000197363 34 10 22.73 27 0 0.00 ZNF518A 9849 genome.wustl.edu 37 10 97917657 97917657 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97917657 97917657 T C SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors ZNF518A HGNC ENSG00000177853 16 7 30.43 18 0 0.00 ZNF518A 9849 genome.wustl.edu 37 10 97918540 97918540 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 97918540 97918540 G A SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors ZNF518A HGNC ENSG00000177853 17 13 43.33 32 0 0.00 ZNF518A 9849 genome.wustl.edu 37 10 97919065 97919065 + RNA SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 97919065 97919065 G A SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors ZNF518A HGNC ENSG00000177853 58 34 36.56 89 0 0.00 ZNF518A 9849 genome.wustl.edu 37 10 97921124 97921125 + RNA INS - - T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 97921124 97921125 - T INS ZNF518A ENST00000534948 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ZNF518A HGNC ENSG00000177853 13 9 40.91 18 0 0.00 ZNF518A 9849 genome.wustl.edu 37 10 97922159 97922159 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 97922159 97922159 G T SNP ZNF518A ENST00000534948 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 26 12 31.58 41 0 0.00 ZNF518B 85460 genome.wustl.edu 37 4 10446457 10446457 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 10446457 10446457 C A SNP ZNF518B ENST00000326756 human ensembl 70_37 -1 known missense c.1496 p.G499V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 43 39 47.56 184 0 0.00 ZNF518B 85460 genome.wustl.edu 37 4 10446572 10446572 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 10446572 10446572 C G SNP ZNF518B ENST00000326756 human ensembl 70_37 -1 known missense c.1381 p.E461Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 10 13 56.52 29 0 0.00 ZNF519 162655 genome.wustl.edu 37 18 14105020 14105020 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14105020 14105020 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.1519 p.Q507* 0.888 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 8 9 52.94 25 0 0.00 ZNF519 162655 genome.wustl.edu 37 18 14105110 14105110 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14105110 14105110 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.1429 p.Q477* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 14 17 54.84 24 0 0.00 ZNF519 162655 genome.wustl.edu 37 18 14105614 14105614 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 14105614 14105614 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.925 p.Q309* 0.011 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 30 23 43.40 34 0 0.00 ZNF519 162655 genome.wustl.edu 37 18 14105758 14105758 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 14105758 14105758 C T SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known missense c.781 p.G261R 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 24 7 22.58 50 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22804821 22804821 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 22804821 22804821 G C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.3061 p.R1021G 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 32 6 15.79 38 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22805217 22805217 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 22805217 22805217 C A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2665 p.D889Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 28 55 66.27 48 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22805422 22805422 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 18 22805422 22805422 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.2460 p.A820 0.619 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 32 4 11.11 20 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22805425 22805425 + Missense_Mutation SNP A A C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 22805425 22805425 A C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2457 p.H819Q 0.020 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 169 66 28.09 268 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22805593 22805593 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 18 22805593 22805593 G A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.2289 p.N763 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 28 20 41.67 42 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22805688 22805688 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 18 22805688 22805688 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2194 p.D732N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 24 5 17.24 41 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22806010 22806010 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 18 22806010 22806010 T A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.1872 p.G624 0.598 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 19 10 34.48 40 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22806495 22806495 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 18 22806495 22806495 G C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.1387 p.Q463E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 23 7 23.33 42 0 0.00 ZNF521 25925 genome.wustl.edu 37 18 22902062 22902062 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 22902062 22902062 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.130 p.E44K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 52 23 30.67 75 0 0.00 ZNF524 147807 genome.wustl.edu 37 19 56113740 56113740 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56113740 56113740 G C SNP ZNF524 ENST00000301073 human ensembl 70_37 +1 known missense c.262 p.D88H 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 87 65 42.76 89 0 0.00 ZNF525 170958 genome.wustl.edu 37 19 53884257 53884257 + Nonsense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 53884257 53884257 C G SNP ZNF525 ENST00000474037 human ensembl 70_37 +1 putative nonsense c.425 p.S142* 0.799 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF525 HGNC ENSG00000203326 118 23 16.31 211 0 0.00 ZNF525 170958 genome.wustl.edu 37 19 53884683 53884683 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53884683 53884683 C A SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known nonsense c.5 p.S2* 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 34 8 19.05 47 0 0.00 ZNF525 170958 genome.wustl.edu 37 19 53884991 53884991 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53884991 53884991 G A SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known missense c.313 p.D105N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 101 19 15.83 83 0 0.00 ZNF525 170958 genome.wustl.edu 37 19 53885136 53885136 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53885136 53885136 G C SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known missense c.458 p.G153A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 24 17 41.46 35 0 0.00 ZNF526 116115 genome.wustl.edu 37 19 42729195 42729195 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 42729195 42729195 G C SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.640 p.E214Q 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 58 12 17.14 62 0 0.00 ZNF526 116115 genome.wustl.edu 37 19 42729234 42729234 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42729234 42729234 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.679 p.E227K 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 13 7 35.00 20 0 0.00 ZNF526 116115 genome.wustl.edu 37 19 42729255 42729255 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42729255 42729255 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 17 3 15.00 17 0 0.00 ZNF526 116115 genome.wustl.edu 37 19 42729490 42729490 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 42729490 42729490 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.935 p.R312H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 30 28 48.28 62 0 0.00 ZNF526 116115 genome.wustl.edu 37 19 42729913 42729913 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 42729913 42729913 C T SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.1358 p.S453L 0.157 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 33 6 15.38 16 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37862022 37862022 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 37862022 37862022 C T SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors ZNF527 HGNC ENSG00000189164 40 12 23.08 84 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37865089 37865089 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 37865089 37865089 G A SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.919 - - - no_errors ZNF527 HGNC ENSG00000189164 46 12 20.69 45 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37865092 37865092 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 37865092 37865092 G A SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.805 - - - no_errors ZNF527 HGNC ENSG00000189164 49 12 19.67 46 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37879599 37879599 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 37879599 37879599 G T SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.648 p.K216N 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 30 4 11.76 21 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37879760 37879760 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 19 37879760 37879760 G A SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.809 p.G270E 0.730 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 29 4 12.12 21 0 0.00 ZNF527 84503 genome.wustl.edu 37 19 37880761 37880761 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37880761 37880761 C T SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.1810 p.H604Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 35 14 28.57 36 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52905262 52905262 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 52905262 52905262 C G SNP ZNF528 ENST00000531472 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF528 HGNC ENSG00000167555 151 43 22.05 132 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52909190 52909190 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52909190 52909190 G C SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.46 p.E16Q 0.066 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 87 29 24.58 97 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52909205 52909205 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52909205 52909205 G C SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.61 p.E21Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 97 31 24.22 103 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52909224 52909224 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 52909224 52909224 C G SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.80 p.P27R 0.025 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 145 21 12.65 160 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52909928 52909928 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 52909928 52909928 C T SNP ZNF528 ENST00000594530 human ensembl 70_37 +1 putative silent c.303 p.P101 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 22 17 43.59 34 0 0.00 ZNF528 84436 genome.wustl.edu 37 19 52919122 52919122 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52919122 52919122 T G SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known nonsense c.1017 p.Y339* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 1 3 75.00 16 0 0.00 ZNF529 57711 genome.wustl.edu 37 19 37039059 37039059 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 37039059 37039059 G A SNP ZNF529 ENST00000591340 human ensembl 70_37 -1 known missense c.401 p.P134L 0.071 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF529 HGNC ENSG00000186020 84 28 25.00 35 0 0.00 ZNF530 348327 genome.wustl.edu 37 19 58117124 58117124 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58117124 58117124 G A SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.231 p.Q77 0.013 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 26 26 50.00 35 0 0.00 ZNF530 348327 genome.wustl.edu 37 19 58117823 58117823 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58117823 58117823 C T SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.930 p.L310 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 96 18 15.65 114 0 0.00 ZNF530 348327 genome.wustl.edu 37 19 58117826 58117826 + Silent SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58117826 58117826 T A SNP ZNF530 ENST00000332854 human ensembl 70_37 +1 known silent c.933 p.I311 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 95 18 15.93 116 1 0.85 ZNF532 55205 genome.wustl.edu 37 18 56587446 56587446 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 18 56587446 56587446 G A SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known missense c.1927 p.E643K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 87 34 28.10 121 0 0.00 ZNF532 55205 genome.wustl.edu 37 18 56606737 56606737 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 56606737 56606737 T C SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2589 p.G863 0.958 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 35 4 10.26 54 0 0.00 ZNF532 55205 genome.wustl.edu 37 18 56606770 56606770 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 56606770 56606770 T C SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2622 p.I874 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 35 4 10.26 46 0 0.00 ZNF532 55205 genome.wustl.edu 37 18 56615335 56615335 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 18 56615335 56615335 C T SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2742 p.F914 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 26 19 42.22 31 0 0.00 ZNF532 55205 genome.wustl.edu 37 18 56651248 56651248 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 56651248 56651248 C G SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 56 26 31.71 48 0 0.00 ZNF534 147658 genome.wustl.edu 37 19 52941496 52941496 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 52941496 52941496 G C SNP ZNF534 ENST00000332323 human ensembl 70_37 +1 known missense c.822 p.Q274H 0.413 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 23 13 36.11 35 0 0.00 ZNF534 147658 genome.wustl.edu 37 19 52942558 52942558 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 52942558 52942558 C T SNP ZNF534 ENST00000332323 human ensembl 70_37 +1 known silent c.1884 p.F628 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 10 4 28.57 39 0 0.00 ZNF534 147658 genome.wustl.edu 37 19 52954654 52954654 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 52954654 52954654 C T SNP ZNF534 ENST00000301085 human ensembl 70_37 +1 putative silent c.486 p.L162 0.003 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 24 12 33.33 21 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30934829 30934829 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 19 30934829 30934829 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known silent c.360 p.I120 0.941 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 46 8 14.81 64 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935236 30935236 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 30935236 30935236 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.767 p.P256L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 13 3 18.75 9 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935510 30935510 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 30935510 30935510 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known silent c.1041 p.C347 0.964 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 20 14 41.18 30 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935510 30935510 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 30935510 30935510 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known silent c.1041 p.C347 0.964 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 85 49 36.57 176 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935520 30935520 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 30935520 30935520 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1051 p.G351S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 38 7 15.56 61 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935924 30935924 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 30935924 30935924 G T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1455 p.K485N 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 10 3 23.08 26 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30935982 30935982 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 30935982 30935982 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1513 p.R505W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 16 7 30.43 13 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30936388 30936388 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 30936388 30936388 T C SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1919 p.F640S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 62 32 34.04 96 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 30936474 30936474 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 30936474 30936474 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2005 p.D669N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 55 21 27.63 65 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 31039367 31039367 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 31039367 31039367 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2841 p.M947I 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 10 8 44.44 53 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 31039377 31039377 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 31039377 31039377 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2851 p.G951R 0.250 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 25 6 19.35 41 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 31039383 31039383 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 31039383 31039383 G C SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2857 p.D953H 0.638 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 32 18 36.00 35 0 0.00 ZNF536 9745 genome.wustl.edu 37 19 31039805 31039805 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 31039805 31039805 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known silent c.3279 p.S1093 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 36 12 25.00 48 0 0.00 ZNF540 163255 genome.wustl.edu 37 19 38103818 38103818 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 38103818 38103818 C T SNP ZNF540 ENST00000316433 human ensembl 70_37 +1 known missense c.1637 p.S546F 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 104 23 18.11 183 0 0.00 ZNF541 84215 genome.wustl.edu 37 19 48024519 48024519 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 48024519 48024519 C T SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.4060 p.E1354K 1.000 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 64 23 26.44 54 0 0.00 ZNF541 84215 genome.wustl.edu 37 19 48024549 48024549 + Missense_Mutation SNP A A G TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 19 48024549 48024549 A G SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.4030 p.W1344R 1.000 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 16 20 55.56 30 0 0.00 ZNF541 84215 genome.wustl.edu 37 19 48043494 48043494 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 48043494 48043494 C T SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.2561 p.S854N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 25 19 43.18 79 0 0.00 ZNF541 84215 genome.wustl.edu 37 19 48052515 48052515 + Missense_Mutation SNP G G A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1330e345-c054-4afb-b8b4-ba2bf6615772 06845338-4ebd-46d8-8392-097e6b77dfde 19 48052515 48052515 G A SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.535 p.R179C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 11 5 31.25 45 0 0.00 ZNF542 147947 genome.wustl.edu 37 19 56888473 56888473 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56888473 56888473 G T SNP ZNF542 ENST00000467807 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF542 HGNC ENSG00000240225 12 10 45.45 25 0 0.00 ZNF542 147947 genome.wustl.edu 37 19 56889033 56889033 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56889033 56889033 G A SNP ZNF542 ENST00000467807 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF542 HGNC ENSG00000240225 59 7 10.61 70 0 0.00 ZNF543 125919 genome.wustl.edu 37 19 57839193 57839193 + Silent SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 57839193 57839193 C G SNP ZNF543 ENST00000321545 human ensembl 70_37 +1 known silent c.363 p.S121 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 51 7 11.86 60 0 0.00 ZNF543 125919 genome.wustl.edu 37 19 57839243 57839243 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 57839243 57839243 G A SNP ZNF543 ENST00000321545 human ensembl 70_37 +1 known missense c.413 p.G138E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 38 22 36.67 60 0 0.00 ZNF544 27300 genome.wustl.edu 37 19 58772318 58772318 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 58772318 58772318 G A SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.346 p.E116K 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 34 11 24.44 52 0 0.00 ZNF544 27300 genome.wustl.edu 37 19 58772823 58772823 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58772823 58772823 C G SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.851 p.S284C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 19 24 55.81 44 0 0.00 ZNF544 27300 genome.wustl.edu 37 19 58772988 58772988 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 58772988 58772988 C T SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1016 p.S339L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 25 7 21.88 56 0 0.00 ZNF544 27300 genome.wustl.edu 37 19 58773145 58773145 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 58773145 58773145 G T SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1173 p.Q391H 0.522 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 27 8 22.86 35 0 0.00 ZNF544 27300 genome.wustl.edu 37 19 58773505 58773505 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 58773505 58773505 G C SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1533 p.Q511H 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 30 14 31.82 29 0 0.00 ZNF546 339327 genome.wustl.edu 37 19 40513243 40513243 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 40513243 40513243 C T SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known silent c.234 p.D78 0.040 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 32 12 27.27 47 0 0.00 ZNF546 339327 genome.wustl.edu 37 19 40513284 40513284 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 40513284 40513284 A G SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known missense c.275 p.N92S 0.909 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 88 33 27.27 82 0 0.00 ZNF546 339327 genome.wustl.edu 37 19 40520585 40520585 + Missense_Mutation SNP G G C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 40520585 40520585 G C SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known missense c.1408 p.E470Q 0.945 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 53 29 35.37 63 0 0.00 ZNF548 147694 genome.wustl.edu 37 19 57910035 57910035 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57910035 57910035 G A SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.416 p.G139E 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 73 26 26.26 47 0 0.00 ZNF548 147694 genome.wustl.edu 37 19 57910718 57910718 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57910718 57910718 C T SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.1099 p.H367Y 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 36 12 25.00 25 0 0.00 ZNF548 147694 genome.wustl.edu 37 19 57910879 57910879 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 57910879 57910879 C T SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known silent c.1260 p.L420 0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 21 13 38.24 38 0 0.00 ZNF548 147694 genome.wustl.edu 37 19 57911010 57911010 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 57911010 57911010 G C SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.1391 p.R464T 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 32 18 36.00 48 0 0.00 ZNF549 256051 genome.wustl.edu 37 19 58048626 58048626 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58048626 58048626 C T SNP ZNF549 ENST00000376233 human ensembl 70_37 +1 known missense c.254 p.A85V 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 16 15 48.39 36 0 0.00 ZNF549 256051 genome.wustl.edu 37 19 58063842 58063842 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 58063842 58063842 G A SNP ZNF549 ENST00000602149 human ensembl 70_37 +1 putative missense c.289 p.D97N 0.000 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 59 13 18.06 34 0 0.00 ZNF550 162972 genome.wustl.edu 37 19 58058582 58058582 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58058582 58058582 C T SNP ZNF550 ENST00000376230 human ensembl 70_37 -1 known missense c.1030 p.D344N 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF550 HGNC ENSG00000251369 46 16 25.81 51 0 0.00 ZNF550 162972 genome.wustl.edu 37 19 58071046 58071046 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 58071046 58071046 G A SNP ZNF550 ENST00000376230 human ensembl 70_37 -1 known missense c.5 p.A2V 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF550 HGNC ENSG00000251369 13 3 18.75 26 0 0.00 ZNF551 90233 genome.wustl.edu 37 19 58196731 58196731 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 58196731 58196731 C A SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.183 p.N61K 0.046 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 81 45 35.71 123 0 0.00 ZNF551 90233 genome.wustl.edu 37 19 58196748 58196748 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58196748 58196748 C A SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.200 p.S67Y 0.008 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 107 51 32.28 116 0 0.00 ZNF551 90233 genome.wustl.edu 37 19 58197986 58197986 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58197986 58197986 G C SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.343 p.D115H 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 22 11 33.33 33 0 0.00 ZNF551 90233 genome.wustl.edu 37 19 58198826 58198826 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58198826 58198826 G C SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.1183 p.E395Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 22 18 45.00 31 0 0.00 ZNF555 148254 genome.wustl.edu 37 19 2851618 2851618 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 2851618 2851618 G C SNP ZNF555 ENST00000334241 human ensembl 70_37 +1 known missense c.283 p.D95H 0.119 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF555 HGNC ENSG00000186300 14 10 41.67 20 0 0.00 ZNF555 148254 genome.wustl.edu 37 19 2852402 2852402 + Silent SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 2852402 2852402 C A SNP ZNF555 ENST00000334241 human ensembl 70_37 +1 known silent c.339 p.L113 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF555 HGNC ENSG00000186300 10 8 44.44 26 0 0.00 ZNF556 80032 genome.wustl.edu 37 19 2877608 2877608 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 2877608 2877608 C G SNP ZNF556 ENST00000307635 human ensembl 70_37 +1 known missense c.652 p.L218V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 37 26 41.27 48 0 0.00 ZNF556 80032 genome.wustl.edu 37 19 2877793 2877793 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2877793 2877793 C T SNP ZNF556 ENST00000307635 human ensembl 70_37 +1 known silent c.837 p.I279 0.217 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 75 18 19.35 96 0 0.00 ZNF557 79230 genome.wustl.edu 37 19 7076482 7076482 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 7076482 7076482 G A SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.211 p.V71M 0.853 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 59 28 31.82 86 0 0.00 ZNF557 79230 genome.wustl.edu 37 19 7081464 7081464 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 7081464 7081464 C T SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.341 p.P114L 0.652 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 39 14 26.42 49 0 0.00 ZNF557 79230 genome.wustl.edu 37 19 7083388 7083388 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 7083388 7083388 C T SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.926 p.S309L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 66 35 34.65 57 0 0.00 ZNF558 148156 genome.wustl.edu 37 19 8932741 8932741 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8932741 8932741 G A SNP ZNF558 ENST00000301475 human ensembl 70_37 -1 known nonsense c.58 p.Q20* 0.010 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 25 30 54.55 105 0 0.00 ZNF558 148156 genome.wustl.edu 37 19 8932743 8932743 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8932743 8932743 G A SNP ZNF558 ENST00000301475 human ensembl 70_37 -1 known missense c.56 p.S19F 0.018 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 25 30 54.55 104 0 0.00 ZNF559 84527 genome.wustl.edu 37 19 9449914 9449914 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 9449914 9449914 G A SNP ZNF559 ENST00000393883 human ensembl 70_37 +1 known missense c.79 p.E27K 0.150 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 94 64 40.51 127 1 0.78 ZNF559 84527 genome.wustl.edu 37 19 9453513 9453513 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9453513 9453513 G C SNP ZNF559 ENST00000393883 human ensembl 70_37 +1 known missense c.1386 p.E462D 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 51 18 25.71 66 0 0.00 ZNF560 147741 genome.wustl.edu 37 19 9577552 9577552 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9577552 9577552 T G SNP ZNF560 ENST00000301480 human ensembl 70_37 -1 known missense c.2071 p.N691H 0.910 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 10 9 47.37 35 0 0.00 ZNF561 93134 genome.wustl.edu 37 19 9721199 9721199 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9721199 9721199 G T SNP ZNF561 ENST00000302851 human ensembl 70_37 -1 known missense c.1138 p.L380I 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF561 HGNC ENSG00000171469 27 9 25.00 49 0 0.00 ZNF561 93134 genome.wustl.edu 37 19 9730240 9730240 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 9730240 9730240 T C SNP ZNF561 ENST00000465974 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNF561 HGNC ENSG00000171469 17 8 32.00 37 0 0.00 ZNF563 147837 genome.wustl.edu 37 19 12429781 12429781 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12429781 12429781 C T SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known missense c.1058 p.R353Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ENSG00000188868 102 32 23.88 147 0 0.00 ZNF563 147837 genome.wustl.edu 37 19 12429781 12429781 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12429781 12429781 C T SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known missense c.1058 p.R353Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ENSG00000188868 34 10 22.73 39 0 0.00 ZNF563 147837 genome.wustl.edu 37 19 12432090 12432090 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12432090 12432090 G A SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known silent c.187 p.L63 0.558 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ENSG00000188868 34 11 24.44 28 0 0.00 ZNF564 163050 genome.wustl.edu 37 19 12637494 12637494 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12637494 12637494 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known silent c.1428 p.P476 0.016 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF564 HGNC ENSG00000249709 37 21 36.21 37 0 0.00 ZNF564 163050 genome.wustl.edu 37 19 12637736 12637736 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12637736 12637736 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known missense c.1186 p.Q396E 0.013 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF564 HGNC ENSG00000249709 48 16 25.00 46 0 0.00 ZNF564 163050 genome.wustl.edu 37 19 12638687 12638687 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12638687 12638687 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known missense c.235 p.Q79E 0.001 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF564 HGNC ENSG00000249709 35 20 36.36 30 0 0.00 ZNF565 147929 genome.wustl.edu 37 19 36673847 36673847 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 36673847 36673847 C T SNP ZNF565 ENST00000304116 human ensembl 70_37 -1 known missense c.1021 p.G341R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 69 41 37.27 80 0 0.00 ZNF566 84924 genome.wustl.edu 37 19 36940268 36940268 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36940268 36940268 T C SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.871 p.K291E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 48 17 25.76 38 0 0.00 ZNF566 84924 genome.wustl.edu 37 19 36940268 36940268 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 36940268 36940268 T C SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.871 p.K291E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 97 38 28.15 90 0 0.00 ZNF566 84924 genome.wustl.edu 37 19 36964289 36964289 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964289 36964289 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known silent c.81 p.Q27 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 54 12 17.91 55 0 0.00 ZNF566 84924 genome.wustl.edu 37 19 36964342 36964342 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964342 36964342 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.28 p.D10N 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 59 15 20.27 70 0 0.00 ZNF566 84924 genome.wustl.edu 37 19 36964360 36964360 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964360 36964360 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.10 p.E4K 1.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 61 14 18.67 66 0 0.00 ZNF567 163081 genome.wustl.edu 37 19 37211354 37211354 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 37211354 37211354 C T SNP ZNF567 ENST00000536254 human ensembl 70_37 +1 known silent c.1728 p.L576 0.289 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 20 7 25.93 35 0 0.00 ZNF568 374900 genome.wustl.edu 37 19 37413710 37413710 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 37413710 37413710 T G SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.38 p.V13G 0.627 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 63 7 10.00 52 0 0.00 ZNF568 374900 genome.wustl.edu 37 19 37441146 37441146 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 37441146 37441146 G A SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.1091 p.C364Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 119 14 10.53 141 0 0.00 ZNF568 374900 genome.wustl.edu 37 19 37441179 37441179 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 37441179 37441179 C T SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.1124 p.S375L 0.014 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 29 12 29.27 40 0 0.00 ZNF568 374900 genome.wustl.edu 37 19 37441464 37441464 + Missense_Mutation SNP G G T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 19 37441464 37441464 G T SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.1409 p.G470V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 32 6 15.79 44 0 0.00 ZNF568 374900 genome.wustl.edu 37 19 37487754 37487754 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 37487754 37487754 G A SNP ZNF568 ENST00000455427 human ensembl 70_37 +1 known silent c.969 p.R323 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 26 9 25.71 37 0 0.00 ZNF569 148266 genome.wustl.edu 37 19 37903935 37903935 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 37903935 37903935 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1625 p.R542T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 118 31 20.81 111 0 0.00 ZNF569 148266 genome.wustl.edu 37 19 37903935 37903935 + Missense_Mutation SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 37903935 37903935 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1625 p.R542T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 52 26 32.91 41 0 0.00 ZNF569 148266 genome.wustl.edu 37 19 37904285 37904285 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37904285 37904285 G A SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known silent c.1275 p.F425 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 29 11 27.50 41 0 0.00 ZNF569 148266 genome.wustl.edu 37 19 37904387 37904387 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37904387 37904387 G C SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1173 p.F391L 0.554 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 50 10 16.67 36 0 0.00 ZNF569 148266 genome.wustl.edu 37 19 37905078 37905078 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37905078 37905078 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.482 p.R161T 0.138 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 43 18 29.51 34 0 0.00 ZNF57 126295 genome.wustl.edu 37 19 2917022 2917022 + Missense_Mutation SNP G G T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 2917022 2917022 G T SNP ZNF57 ENST00000306908 human ensembl 70_37 +1 known missense c.403 p.A135S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 30 4 11.76 46 0 0.00 ZNF57 126295 genome.wustl.edu 37 19 2917298 2917298 + Missense_Mutation SNP G G A TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7c777ea-be05-4bca-966a-479f3d3b0461 927cdf95-d9ff-430f-9e97-a6eb590774bc 19 2917298 2917298 G A SNP ZNF57 ENST00000306908 human ensembl 70_37 +1 known missense c.679 p.E227K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 32 4 11.11 40 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37958831 37958831 + Silent SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37958831 37958831 G C SNP ZNF570 ENST00000587363 human ensembl 70_37 +1 known silent c.39 p.V13 0.007 NULL NULL - no_errors ZNF570 HGNC ENSG00000171827 120 22 15.49 137 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37961245 37961245 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37961245 37961245 G T SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative nonsense c.157 p.E53* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 28 10 26.32 45 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37961248 37961248 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 37961248 37961248 G A SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative missense c.160 p.E54K 0.020 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 45 10 18.18 62 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37961255 37961255 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37961255 37961255 G T SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative missense c.167 p.R56I 0.763 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 29 11 27.50 43 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37974926 37974926 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37974926 37974926 T G SNP ZNF570 ENST00000330173 human ensembl 70_37 +1 known nonsense c.402 p.Y134* 0.710 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 14 13 48.15 40 0 0.00 ZNF570 148268 genome.wustl.edu 37 19 37975793 37975793 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37975793 37975793 C G SNP ZNF570 ENST00000330173 human ensembl 70_37 +1 known missense c.1269 p.F423L 0.989 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 19 11 36.67 38 0 0.00 ZNF571 51276 genome.wustl.edu 37 19 38055835 38055835 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 38055835 38055835 C T SNP ZNF571 ENST00000328550 human ensembl 70_37 -1 known missense c.1495 p.E499K 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 43 6 12.24 48 0 0.00 ZNF572 137209 genome.wustl.edu 37 8 125989129 125989129 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 125989129 125989129 G C SNP ZNF572 ENST00000319286 human ensembl 70_37 +1 known missense c.619 p.E207Q 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 14 3 17.65 27 0 0.00 ZNF573 126231 genome.wustl.edu 37 19 38229812 38229812 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 38229812 38229812 C T SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1579 p.E527K 0.339 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF573 HGNC ENSG00000189144 75 14 15.73 129 0 0.00 ZNF573 126231 genome.wustl.edu 37 19 38229932 38229932 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 38229932 38229932 G C SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1459 p.Q487E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF573 HGNC ENSG00000189144 153 31 16.85 213 0 0.00 ZNF573 126231 genome.wustl.edu 37 19 38230352 38230352 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38230352 38230352 G C SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1039 p.L347V 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF573 HGNC ENSG00000189144 114 34 22.97 174 0 0.00 ZNF574 64763 genome.wustl.edu 37 19 42584616 42584616 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42584616 42584616 C T SNP ZNF574 ENST00000222339 human ensembl 70_37 +1 known missense c.2128 p.R710W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 58 12 17.14 46 0 0.00 ZNF577 84765 genome.wustl.edu 37 19 52364164 52364164 + RNA SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 52364164 52364164 G A SNP ZNF577 ENST00000485702 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors ZNF577 HGNC ENSG00000161551 27 12 30.77 45 0 0.00 ZNF577 84765 genome.wustl.edu 37 19 52375874 52375874 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52375874 52375874 C G SNP ZNF577 ENST00000301399 human ensembl 70_37 -1 known missense c.1369 p.E457Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 23 11 32.35 36 0 0.00 ZNF577 84765 genome.wustl.edu 37 19 52376893 52376893 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52376893 52376893 G C SNP ZNF577 ENST00000301399 human ensembl 70_37 -1 known nonsense c.350 p.S117* 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 24 16 40.00 32 0 0.00 ZNF577 84765 genome.wustl.edu 37 19 52391205 52391205 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 52391205 52391205 G T SNP ZNF577 ENST00000485702 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF577 HGNC ENSG00000161551 28 4 12.50 30 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014094 53014094 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53014094 53014094 G T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.460 p.D154Y 0.013 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 68 33 32.67 83 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014124 53014124 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53014124 53014124 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.490 p.L164F 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 78 26 25.00 67 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014312 53014312 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53014312 53014312 G A SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.678 p.M226I 0.145 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 24 12 33.33 44 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014316 53014316 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 19 53014316 53014316 G C SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.682 p.E228Q 0.066 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 66 8 10.81 105 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014382 53014382 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 53014382 53014382 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known nonsense c.748 p.Q250* 0.130 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 84 22 20.75 80 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014490 53014490 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53014490 53014490 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.856 p.P286S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 74 24 24.49 73 0 0.00 ZNF578 147660 genome.wustl.edu 37 19 53014505 53014505 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 53014505 53014505 G A SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.871 p.E291K 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 87 22 20.18 106 0 0.00 ZNF579 163033 genome.wustl.edu 37 19 56089506 56089506 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 56089506 56089506 G A SNP ZNF579 ENST00000325421 human ensembl 70_37 -1 known silent c.1500 p.L500 0.816 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 34 8 19.05 56 0 0.00 ZNF581 51545 genome.wustl.edu 37 19 56156266 56156266 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 56156266 56156266 C G SNP ZNF581 ENST00000270451 human ensembl 70_37 +1 known missense c.329 p.S110W 0.988 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 37 8 17.78 35 0 0.00 ZNF582 147948 genome.wustl.edu 37 19 56895976 56895976 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 56895976 56895976 C G SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.810 p.L270F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 23 7 23.33 33 0 0.00 ZNF582 147948 genome.wustl.edu 37 19 56895986 56895986 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 56895986 56895986 C A SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.800 p.S267I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 24 3 11.11 53 0 0.00 ZNF582 147948 genome.wustl.edu 37 19 56896548 56896548 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 56896548 56896548 C G SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.238 p.E80Q 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 3 12 80.00 15 0 0.00 ZNF582 147948 genome.wustl.edu 37 19 56901419 56901419 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 56901419 56901419 G A SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known silent c.183 p.G61 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 26 13 33.33 30 0 0.00 ZNF583 147949 genome.wustl.edu 37 19 56934722 56934722 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56934722 56934722 G T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known missense c.695 p.R232I 0.936 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 3 4 57.14 13 0 0.00 ZNF583 147949 genome.wustl.edu 37 19 56935048 56935048 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56935048 56935048 C T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known nonsense c.1021 p.Q341* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 25 28 52.83 42 0 0.00 ZNF583 147949 genome.wustl.edu 37 19 56935058 56935058 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56935058 56935058 G T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known missense c.1031 p.R344I 0.968 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 12 6 33.33 29 0 0.00 ZNF585A 199704 genome.wustl.edu 37 19 37643544 37643544 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37643544 37643544 G A SNP ZNF585A ENST00000356958 human ensembl 70_37 -1 known silent c.1257 p.F419 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 88 27 23.48 94 0 0.00 ZNF585B 92285 genome.wustl.edu 37 19 37676174 37676174 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37676174 37676174 G A SNP ZNF585B ENST00000532828 human ensembl 70_37 -1 known silent c.2265 p.F755 0.452 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 52 7 11.86 86 0 0.00 ZNF586 54807 genome.wustl.edu 37 19 58287926 58287926 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 19 58287926 58287926 G A SNP ZNF586 ENST00000396154 human ensembl 70_37 +1 known missense c.52 p.E18K 0.676 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF586 HGNC ENSG00000083828 184 88 32.35 157 1 0.63 ZNF586 54807 genome.wustl.edu 37 19 58290285 58290285 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58290285 58290285 C T SNP ZNF586 ENST00000396150 human ensembl 70_37 +1 known missense c.203 p.T68I 0.262 NULL NULL - no_errors ZNF586 HGNC ENSG00000083828 21 10 32.26 43 0 0.00 ZNF586 54807 genome.wustl.edu 37 19 58290446 58290446 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58290446 58290446 C T SNP ZNF586 ENST00000396154 human ensembl 70_37 +1 known missense c.491 p.S164L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF586 HGNC ENSG00000083828 41 16 28.07 64 0 0.00 ZNF586 54807 genome.wustl.edu 37 19 58290557 58290557 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58290557 58290557 C T SNP ZNF586 ENST00000396154 human ensembl 70_37 +1 known missense c.602 p.S201F 0.984 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF586 HGNC ENSG00000083828 36 21 36.84 39 0 0.00 ZNF586 54807 genome.wustl.edu 37 19 58325933 58325933 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58325933 58325933 C G SNP ZNF586 ENST00000598885 human ensembl 70_37 +1 putative silent c.303 p.V101 0.001 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF586 HGNC ENSG00000083828 40 16 28.57 53 0 0.00 ZNF587 84914 genome.wustl.edu 37 19 58370157 58370157 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58370157 58370157 G T SNP ZNF587 ENST00000339656 human ensembl 70_37 +1 known missense c.377 p.G126V 0.009 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 18 7 28.00 13 0 0.00 ZNF587B 100293516 genome.wustl.edu 37 19 58331298 58331298 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58331298 58331298 G A SNP ZNF587B ENST00000316462 human ensembl 70_37 +1 known silent c.18 p.P6 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ENSG00000269343 95 37 28.03 115 0 0.00 ZNF587B 100293516 genome.wustl.edu 37 19 58352729 58352729 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58352729 58352729 C T SNP ZNF587B ENST00000442832 human ensembl 70_37 +1 known silent c.687 p.L229 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ENSG00000269343 92 26 22.03 124 1 0.79 ZNF592 9640 genome.wustl.edu 37 15 85326241 85326241 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 85326241 85326241 C T SNP ZNF592 ENST00000299927 human ensembl 70_37 +1 known missense c.335 p.S112F 0.110 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 102 21 17.07 107 0 0.00 ZNF593 51042 genome.wustl.edu 37 1 26496564 26496564 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 26496564 26496564 G C SNP ZNF593 ENST00000374266 human ensembl 70_37 +1 known missense c.90 p.E30D 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF593 HGNC ENSG00000142684 7 4 36.36 9 0 0.00 ZNF593 51042 genome.wustl.edu 37 1 26497013 26497013 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 26497013 26497013 C G SNP ZNF593 ENST00000270812 human ensembl 70_37 +1 putative missense c.305 p.A102G 0.001 NULL pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2 - no_errors ZNF593 HGNC ENSG00000142684 64 26 28.89 43 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5085175 5085175 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 5085175 5085175 C A SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known nonsense c.2377 p.E793* 0.355 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 24 16 40.00 60 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5085838 5085838 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 5085838 5085838 G A SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known nonsense c.1714 p.Q572* 0.007 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 28 25 47.17 66 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5086046 5086046 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 5086046 5086046 G C SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known silent c.1506 p.L502 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 36 5 12.20 50 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5086053 5086053 + Missense_Mutation SNP C C T TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 17 5086053 5086053 C T SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known missense c.1499 p.R500H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 20 4 16.67 67 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5086862 5086862 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 5086862 5086862 C G SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known missense c.690 p.Q230H 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 103 13 11.21 154 0 0.00 ZNF594 84622 genome.wustl.edu 37 17 5087312 5087312 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 5087312 5087312 C G SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known missense c.240 p.E80D 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 40 9 18.37 28 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 60294 60294 + Nonstop_Mutation SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 4 60294 60294 T C SNP ZNF595 ENST00000526473 human ensembl 70_37 +1 known nonstop c.277 p.*93Q 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF595 HGNC ENSG00000197701 18 7 28.00 47 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 85884 85884 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85884 85884 T C SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.348 - - - no_errors ZNF595 HGNC ENSG00000197701 6 5 45.45 39 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 85969 85970 + RNA INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 4 85969 85970 - A INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.614:0.715 - - - no_errors ZNF595 HGNC ENSG00000197701 28 4 12.50 35 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 85996 85997 + RNA INS - - C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 85996 85997 - C INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.009 - - - no_errors ZNF595 HGNC ENSG00000197701 41 5 10.87 39 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 85996 85997 + RNA INS - - C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 85996 85997 - C INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.009 - - - no_errors ZNF595 HGNC ENSG00000197701 8 4 33.33 14 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 86669 86669 + RNA SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 86669 86669 G A SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF595 HGNC ENSG00000197701 84 16 16.00 32 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 86925 86925 + RNA SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 4 86925 86925 A G SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.820 - - - no_errors ZNF595 HGNC ENSG00000197701 120 16 11.76 55 0 0.00 ZNF595 152687 genome.wustl.edu 37 4 87250 87250 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 87250 87250 C G SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.240 - - - no_errors ZNF595 HGNC ENSG00000197701 38 27 41.54 78 0 0.00 ZNF596 169270 genome.wustl.edu 37 8 183047 183047 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 183047 183047 G C SNP ZNF596 ENST00000521238 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF596 HGNC ENSG00000172748 53 32 37.65 118 0 0.00 ZNF596 169270 genome.wustl.edu 37 8 192960 192960 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 192960 192960 G A SNP ZNF596 ENST00000308811 human ensembl 70_37 +1 known missense c.86 p.R29K 0.506 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF596 HGNC ENSG00000172748 10 32 76.19 63 0 0.00 ZNF597 146434 genome.wustl.edu 37 16 3487266 3487266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3487266 3487266 G C SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.433 p.L145V 0.666 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 21 17 44.74 32 0 0.00 ZNF597 146434 genome.wustl.edu 37 16 3487371 3487371 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3487371 3487371 G C SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.328 p.P110A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 38 18 32.14 75 0 0.00 ZNF597 146434 genome.wustl.edu 37 16 3487486 3487486 + Missense_Mutation SNP T T A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 3487486 3487486 T A SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.213 p.E71D 0.621 smart_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 32 20 38.46 47 0 0.00 ZNF597 146434 genome.wustl.edu 37 16 3490819 3490819 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 3490819 3490819 C A SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.148 p.A50S 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 15 9 37.50 22 0 0.00 ZNF597 146434 genome.wustl.edu 37 16 3490834 3490834 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 3490834 3490834 C G SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.021 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 43 17 28.33 55 0 0.00 ZNF598 90850 genome.wustl.edu 37 16 2049698 2049698 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 2049698 2049698 G T SNP ZNF598 ENST00000431526 human ensembl 70_37 -1 known missense c.1852 p.P618T 0.648 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 35 4 10.26 28 0 0.00 ZNF598 90850 genome.wustl.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 2049882 2049883 - TCC INS ZNF598 ENST00000431526 human ensembl 70_37 -1 known in_frame_ins c.1668_1667 p.556in_frame_insE 0.000:0.023 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 26 15 36.59 13 0 0.00 ZNF598 90850 genome.wustl.edu 37 16 2050434 2050434 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 2050434 2050434 G A SNP ZNF598 ENST00000431526 human ensembl 70_37 -1 known missense c.1250 p.S417L 0.004 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 126 14 10.00 110 0 0.00 ZNF599 148103 genome.wustl.edu 37 19 35250451 35250451 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 19 35250451 35250451 C T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.1255 p.G419R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 36 14 28.00 80 0 0.00 ZNF599 148103 genome.wustl.edu 37 19 35250490 35250490 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 35250490 35250490 G A SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.1216 p.H406Y 0.977 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 77 10 11.49 47 0 0.00 ZNF599 148103 genome.wustl.edu 37 19 35250659 35250659 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 35250659 35250659 C T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known silent c.1047 p.T349 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 18 14 43.75 28 0 0.00 ZNF599 148103 genome.wustl.edu 37 19 35258275 35258275 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 35258275 35258275 G T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.187 p.H63N 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 27 4 12.90 41 0 0.00 ZNF600 162966 genome.wustl.edu 37 19 53269068 53269068 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 53269068 53269068 G A SNP ZNF600 ENST00000338230 human ensembl 70_37 -1 known silent c.1941 p.F647 0.126 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 140 31 18.13 144 0 0.00 ZNF605 100289635 genome.wustl.edu 37 12 133502070 133502070 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 133502070 133502070 C T SNP ZNF605 ENST00000360187 human ensembl 70_37 -1 known missense c.1815 p.M605I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF605 HGNC ENSG00000196458 30 9 23.08 57 0 0.00 ZNF606 80095 genome.wustl.edu 37 19 58491316 58491316 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 58491316 58491316 A G SNP ZNF606 ENST00000341164 human ensembl 70_37 -1 known silent c.732 p.A244 0.170 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 73 26 26.26 128 0 0.00 ZNF607 84775 genome.wustl.edu 37 19 38189024 38189024 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38189024 38189024 C G SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.2008 p.E670Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 149 51 25.50 226 0 0.00 ZNF607 84775 genome.wustl.edu 37 19 38189966 38189966 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 38189966 38189966 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.1066 p.H356D 0.042 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 23 9 27.27 20 0 0.00 ZNF607 84775 genome.wustl.edu 37 19 38200684 38200684 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 38200684 38200684 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.49 p.H17D 0.987 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 83 23 21.70 67 0 0.00 ZNF607 84775 genome.wustl.edu 37 19 38200719 38200719 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 38200719 38200719 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known nonsense c.14 p.S5* 0.003 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 58 18 23.68 52 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123972613 123972614 + RNA INS - - A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 123972613 123972614 - A INS ZNF608 ENST00000513985 human ensembl 70_37 -1 known rna NULL NULL 0.291:0.200 - - - no_errors ZNF608 HGNC ENSG00000168916 15 6 28.57 8 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123973360 123973361 + RNA INS - - TA TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 123973360 123973361 - TA INS ZNF608 ENST00000513985 human ensembl 70_37 -1 known rna NULL NULL 0.932:0.970 - - - no_errors ZNF608 HGNC ENSG00000168916 3 2 40.00 8 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123984032 123984032 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 123984032 123984032 G A SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.2045 p.A682V 0.012 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 22 6 21.43 29 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123984157 123984157 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 123984157 123984157 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1920 p.K640N 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 24 14 36.84 35 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123984271 123984271 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 123984271 123984271 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1806 p.L602F 0.134 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 40 29 42.03 59 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123984460 123984460 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 123984460 123984460 C T SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known silent c.1617 p.E539 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 32 9 21.95 64 0 0.00 ZNF608 57507 genome.wustl.edu 37 5 123984798 123984798 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 123984798 123984798 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1279 p.E427Q 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 10 4 28.57 23 0 0.00 ZNF609 23060 genome.wustl.edu 37 15 64791779 64791779 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 64791779 64791779 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.161 p.S54* 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 80 9 10.11 113 0 0.00 ZNF609 23060 genome.wustl.edu 37 15 64966714 64966714 + Nonsense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 64966714 64966714 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.1661 p.S554* 0.073 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 59 10 14.49 53 0 0.00 ZNF609 23060 genome.wustl.edu 37 15 64967417 64967417 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 64967417 64967417 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known missense c.2364 p.I788M 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 32 6 15.79 41 0 0.00 ZNF609 23060 genome.wustl.edu 37 15 64973556 64973556 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 15 64973556 64973556 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.4211 p.S1404* 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 15 7 31.82 17 0 0.00 ZNF610 162963 genome.wustl.edu 37 19 52869563 52869563 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52869563 52869563 C A SNP ZNF610 ENST00000321287 human ensembl 70_37 +1 known missense c.932 p.T311N 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 15 9 37.50 19 0 0.00 ZNF610 162963 genome.wustl.edu 37 19 52869638 52869638 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52869638 52869638 G T SNP ZNF610 ENST00000321287 human ensembl 70_37 +1 known missense c.1007 p.R336I 0.855 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 5 4 40.00 23 0 0.00 ZNF611 81856 genome.wustl.edu 37 19 53208777 53208777 + Nonsense_Mutation SNP T T A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 53208777 53208777 T A SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known nonsense c.1531 p.K511* 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 68 10 12.82 46 0 0.00 ZNF611 81856 genome.wustl.edu 37 19 53209325 53209325 + Missense_Mutation SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 53209325 53209325 G A SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known missense c.983 p.S328L 0.005 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 33 17 34.00 49 0 0.00 ZNF611 81856 genome.wustl.edu 37 19 53217357 53217357 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 53217357 53217357 G C SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known nonsense c.101 p.S34* 0.818 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 87 23 20.91 84 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52443470 52443470 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52443470 52443470 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known silent c.24 p.L8 0.308 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 54 33 37.93 71 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52443521 52443521 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 52443521 52443521 C T SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known silent c.75 p.L25 0.685 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 86 46 34.59 141 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52443915 52443915 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 52443915 52443915 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.188 p.G63E 0.062 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 30 17 36.17 56 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52443955 52443955 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 52443955 52443955 C T SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known silent c.228 p.I76 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 36 15 29.41 32 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52447781 52447781 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52447781 52447781 G C SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.645 p.K215N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 24 10 29.41 30 0 0.00 ZNF613 79898 genome.wustl.edu 37 19 52448073 52448073 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 52448073 52448073 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 22 17 43.59 45 0 0.00 ZNF614 80110 genome.wustl.edu 37 19 52519812 52519812 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52519812 52519812 C G SNP ZNF614 ENST00000270649 human ensembl 70_37 -1 known missense c.1039 p.E347Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 32 11 25.58 46 0 0.00 ZNF614 80110 genome.wustl.edu 37 19 52521309 52521309 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 52521309 52521309 G T SNP ZNF614 ENST00000270649 human ensembl 70_37 -1 known missense c.190 p.Q64K 0.018 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 65 15 18.75 82 0 0.00 ZNF615 284370 genome.wustl.edu 37 19 52496447 52496447 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 52496447 52496447 C T SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.1915 p.E639K 0.063 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 41 7 14.58 30 0 0.00 ZNF615 284370 genome.wustl.edu 37 19 52496531 52496531 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 52496531 52496531 C G SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 22 14 38.89 46 0 0.00 ZNF615 284370 genome.wustl.edu 37 19 52496664 52496664 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 52496664 52496664 G C SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known silent c.1698 p.L566 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 141 37 20.79 226 0 0.00 ZNF615 284370 genome.wustl.edu 37 19 52497885 52497885 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52497885 52497885 C G SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.477 p.R159S 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 7 7 50.00 18 0 0.00 ZNF615 284370 genome.wustl.edu 37 19 52498037 52498037 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52498037 52498037 G C SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.325 p.Q109E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 36 16 30.77 39 0 0.00 ZNF616 90317 genome.wustl.edu 37 19 52618221 52618221 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52618221 52618221 G A SNP ZNF616 ENST00000600228 human ensembl 70_37 -1 known silent c.2196 p.L732 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 43 19 30.16 45 0 0.00 ZNF618 114991 genome.wustl.edu 37 9 116790996 116790996 + RNA SNP G G C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 9 116790996 116790996 G C SNP ZNF618 ENST00000470105 human ensembl 70_37 +1 known rna NULL NULL 0.916 - - - no_errors ZNF618 HGNC ENSG00000157657 21 4 16.00 21 0 0.00 ZNF618 114991 genome.wustl.edu 37 9 116812073 116812073 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 116812073 116812073 G A SNP ZNF618 ENST00000374126 human ensembl 70_37 +1 known missense c.2491 p.E831K 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 43 14 24.56 24 0 0.00 ZNF618 114991 genome.wustl.edu 37 9 116812420 116812420 + Silent SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 9 116812420 116812420 C T SNP ZNF618 ENST00000374126 human ensembl 70_37 +1 known silent c.2838 p.L946 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 13 4 23.53 22 0 0.00 ZNF619 285267 genome.wustl.edu 37 3 40523818 40523818 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 40523818 40523818 G A SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known silent c.276 p.L92 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 37 29 43.94 61 0 0.00 ZNF619 285267 genome.wustl.edu 37 3 40528735 40528735 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 40528735 40528735 C G SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known nonsense c.854 p.S285* 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 71 21 22.83 84 0 0.00 ZNF619 285267 genome.wustl.edu 37 3 40529414 40529414 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 40529414 40529414 C T SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known silent c.1533 p.F511 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 58 7 10.77 49 0 0.00 ZNF619 285267 genome.wustl.edu 37 3 40529424 40529424 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 40529424 40529424 C T SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known nonsense c.1543 p.Q515* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 61 7 10.29 53 0 0.00 ZNF619 285267 genome.wustl.edu 37 3 40529636 40529636 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 40529636 40529636 C A SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known missense c.1755 p.N585K 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 33 27 45.00 36 0 0.00 ZNF620 253639 genome.wustl.edu 37 3 40557890 40557890 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 40557890 40557890 C T SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known nonsense c.805 p.Q269* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF620 HGNC ENSG00000177842 14 8 36.36 29 0 0.00 ZNF620 253639 genome.wustl.edu 37 3 40558018 40558018 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 40558018 40558018 C A SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known missense c.933 p.N311K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF620 HGNC ENSG00000177842 30 16 34.78 35 0 0.00 ZNF620 253639 genome.wustl.edu 37 3 40558125 40558125 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 40558125 40558125 C G SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known missense c.1040 p.S347C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF620 HGNC ENSG00000177842 16 24 60.00 52 0 0.00 ZNF621 285268 genome.wustl.edu 37 3 40570895 40570895 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 40570895 40570895 G A SNP ZNF621 ENST00000339296 human ensembl 70_37 +1 known missense c.110 p.G37E 0.979 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF621 HGNC ENSG00000172888 77 30 28.04 54 0 0.00 ZNF621 285268 genome.wustl.edu 37 3 40573774 40573774 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 40573774 40573774 G C SNP ZNF621 ENST00000339296 human ensembl 70_37 +1 known missense c.513 p.M171I 0.970 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF621 HGNC ENSG00000172888 15 8 34.78 32 0 0.00 ZNF622 90441 genome.wustl.edu 37 5 16465642 16465642 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 16465642 16465642 C A SNP ZNF622 ENST00000308683 human ensembl 70_37 -1 known nonsense c.133 p.E45* 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 42 8 16.00 42 0 0.00 ZNF622 90441 genome.wustl.edu 37 5 16465736 16465736 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 5 16465736 16465736 G A SNP ZNF622 ENST00000308683 human ensembl 70_37 -1 known silent c.39 p.F13 0.941 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 13 2 13.33 9 0 0.00 ZNF623 9831 genome.wustl.edu 37 8 144732899 144732899 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 144732899 144732899 C T SNP ZNF623 ENST00000501748 human ensembl 70_37 +1 known missense c.857 p.T286I 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 50 10 16.67 42 0 0.00 ZNF623 9831 genome.wustl.edu 37 8 144733545 144733545 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 144733545 144733545 C T SNP ZNF623 ENST00000501748 human ensembl 70_37 +1 known silent c.1503 p.N501 0.637 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 17 29 63.04 49 0 0.00 ZNF625 90589 genome.wustl.edu 37 19 12256835 12256835 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12256835 12256835 C G SNP ZNF625 ENST00000439556 human ensembl 70_37 -1 known missense c.396 p.Q132H 0.867 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 34 30 45.45 62 0 0.00 ZNF626 199777 genome.wustl.edu 37 19 20808319 20808319 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 20808319 20808319 C G SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.364 p.E122Q 0.124 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 131 22 14.38 199 0 0.00 ZNF626 199777 genome.wustl.edu 37 19 20808330 20808330 + Missense_Mutation SNP A A T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 20808330 20808330 A T SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.353 p.I118K 0.085 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 119 39 24.68 132 0 0.00 ZNF626 199777 genome.wustl.edu 37 19 20829110 20829110 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 20829110 20829110 C G SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.105 p.E35D 0.887 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 45 30 40.00 126 0 0.00 ZNF627 199692 genome.wustl.edu 37 19 11725659 11725659 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 11725659 11725659 C T SNP ZNF627 ENST00000361113 human ensembl 70_37 +1 known nonsense c.148 p.Q50* 0.008 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF627 HGNC ENSG00000198551 122 44 26.51 89 0 0.00 ZNF627 199692 genome.wustl.edu 37 19 11727567 11727567 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 11727567 11727567 C T SNP ZNF627 ENST00000361113 human ensembl 70_37 +1 known silent c.249 p.F83 0.547 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF627 HGNC ENSG00000198551 28 25 47.17 29 0 0.00 ZNF628 89887 genome.wustl.edu 37 19 55994438 55994438 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55994438 55994438 C A SNP ZNF628 ENST00000598519 human ensembl 70_37 +1 known silent c.1878 p.I626 0.235 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 9 8 47.06 17 0 0.00 ZNF628 89887 genome.wustl.edu 37 19 55995213 55995213 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 55995213 55995213 G C SNP ZNF628 ENST00000598519 human ensembl 70_37 +1 known missense c.2653 p.E885Q 0.728 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 82 23 21.90 75 0 0.00 ZNF629 23361 genome.wustl.edu 37 16 30793806 30793806 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 30793806 30793806 G A SNP ZNF629 ENST00000262525 human ensembl 70_37 -1 known nonsense c.1843 p.R615* 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 37 31 45.59 70 0 0.00 ZNF629 23361 genome.wustl.edu 37 16 30794051 30794051 + Missense_Mutation SNP C C T TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 16 30794051 30794051 C T SNP ZNF629 ENST00000262525 human ensembl 70_37 -1 known missense c.1598 p.R533Q 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 17 7 29.17 30 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47917923 47917923 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 X 47917923 47917923 G A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known silent c.1908 p.F636 0.631 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 33 16 32.65 56 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47918395 47918395 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47918395 47918395 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1436 p.R479I 0.899 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 11 8 42.11 25 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47918789 47918789 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 47918789 47918789 C T SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1042 p.E348K 0.029 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 28 7 20.00 28 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47918815 47918815 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47918815 47918815 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1016 p.R339I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 19 4 17.39 35 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47918822 47918822 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de X 47918822 47918822 G A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1009 p.H337Y 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 22 3 12.00 41 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47919006 47919006 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 47919006 47919006 C T SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known silent c.825 p.K275 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 44 7 13.46 68 0 0.00 ZNF630 57232 genome.wustl.edu 37 X 47919232 47919232 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 47919232 47919232 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.599 p.R200I 0.505 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 66 14 17.50 72 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71576778 71576778 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 71576778 71576778 G C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.694 p.E232Q 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 37 14 26.92 48 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71577290 71577290 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 2 71577290 71577290 G C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.1206 p.Q402H 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 50 8 13.79 43 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71602547 71602547 + RNA SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 2 71602547 71602547 C T SNP ZNF638 ENST00000434786 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF638 HGNC ENSG00000075292 24 30 55.56 32 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71620688 71620688 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 71620688 71620688 G A SNP ZNF638 ENST00000544512 human ensembl 70_37 +1 known silent c.2961 p.K987 0.760 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 14 7 33.33 26 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71635303 71635303 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 71635303 71635303 C T SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known silent c.3187 p.L1063 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 32 16 33.33 54 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71645628 71645629 + RNA INS - - T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 2 71645628 71645629 - T INS ZNF638 ENST00000483421 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors ZNF638 HGNC ENSG00000075292 24 10 29.41 26 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71645629 71645629 + RNA DEL T T - TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 2 71645629 71645629 T - DEL ZNF638 ENST00000483421 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF638 HGNC ENSG00000075292 33 6 15.38 32 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71650144 71650144 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 71650144 71650144 T C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.3500 p.L1167P 0.991 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 29 5 14.71 19 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71653849 71653849 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 71653849 71653849 C G SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.4850 p.A1617G 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 25 5 16.67 62 0 0.00 ZNF638 27332 genome.wustl.edu 37 2 71658313 71658313 + RNA SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 2 71658313 71658313 G C SNP ZNF638 ENST00000488126 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF638 HGNC ENSG00000075292 17 11 39.29 28 0 0.00 ZNF639 51193 genome.wustl.edu 37 3 179051197 179051197 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 179051197 179051197 G A SNP ZNF639 ENST00000326361 human ensembl 70_37 +1 known missense c.445 p.E149K 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 17 11 39.29 41 0 0.00 ZFP69B 65243 genome.wustl.edu 37 1 40928938 40928938 + Frame_Shift_Del DEL T T - TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 40928938 40928938 T - DEL ZNF643 ENST00000411995 human ensembl 70_37 +1 known frame_shift_del c.1282 p.F428fs 0.770 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF643 HGNC ENSG00000187801 8 2 20.00 27 0 0.00 ZNF644 84146 genome.wustl.edu 37 1 91403562 91403562 + Silent SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 91403562 91403562 A G SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known silent c.3168 p.H1056 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 27 24 46.15 35 0 0.00 ZNF644 84146 genome.wustl.edu 37 1 91403562 91403562 + Silent SNP A A G TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 1 91403562 91403562 A G SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known silent c.3168 p.H1056 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 96 66 40.49 139 0 0.00 ZNF644 84146 genome.wustl.edu 37 1 91406821 91406821 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 91406821 91406821 C A SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known missense c.90 p.K30N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 13 9 40.91 35 0 0.00 ZNF645 158506 genome.wustl.edu 37 X 22291431 22291431 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 22291431 22291431 G A SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.323 p.R108Q 0.003 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 20 17 45.95 62 0 0.00 ZNF645 158506 genome.wustl.edu 37 X 22291584 22291584 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 22291584 22291584 C T SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.476 p.P159L 0.004 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 114 95 45.45 189 1 0.53 ZNF645 158506 genome.wustl.edu 37 X 22291649 22291649 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 22291649 22291649 C G SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.541 p.P181A 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 27 4 12.90 32 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31088999 31088999 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 31088999 31088999 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.1354 p.E452Q 0.330 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 31 4 11.43 46 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31089785 31089785 + Nonsense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 31089785 31089785 G T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known nonsense c.2140 p.E714* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 10 22 68.75 12 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31089929 31089929 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31089929 31089929 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.2284 p.E762Q 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 162 42 20.59 209 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31090025 31090025 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31090025 31090025 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.2380 p.D794H 0.062 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 112 37 24.67 150 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31090081 31090081 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090081 31090081 C T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.2436 p.V812 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 26 21 44.68 42 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31090135 31090135 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090135 31090135 C T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.2490 p.F830 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 39 24 38.10 49 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31090883 31090883 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090883 31090883 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.3238 p.L1080V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 18 13 41.94 33 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31091077 31091077 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 31091077 31091077 G A SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.3432 p.P1144 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 25 13 34.21 42 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31091918 31091918 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31091918 31091918 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.4273 p.P1425A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 58 28 32.56 77 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31092086 31092086 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31092086 31092086 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.4441 p.Q1481E 0.079 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 32 23 41.82 41 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31092656 31092656 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31092656 31092656 G A SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.5011 p.E1671K 0.155 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 28 22 44.00 33 0 0.00 ZNF646 9726 genome.wustl.edu 37 16 31092798 31092798 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31092798 31092798 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.5153 p.S1718C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 31 15 32.61 59 0 0.00 ZNF648 127665 genome.wustl.edu 37 1 182025669 182025669 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 182025669 182025669 G A SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.1477 p.R493W 0.968 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 22 18 45.00 27 0 0.00 ZNF648 127665 genome.wustl.edu 37 1 182025942 182025942 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 182025942 182025942 C T SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.1204 p.A402T 0.336 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 25 9 26.47 19 0 0.00 ZNF648 127665 genome.wustl.edu 37 1 182027076 182027076 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 182027076 182027076 G C SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.70 p.H24D 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 61 17 21.79 44 0 0.00 ZNF649 65251 genome.wustl.edu 37 19 52394040 52394040 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52394040 52394040 C A SNP ZNF649 ENST00000354957 human ensembl 70_37 -1 known missense c.1349 p.R450I 0.245 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 54 24 30.38 94 0 0.00 ZNF649 65251 genome.wustl.edu 37 19 52394042 52394042 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52394042 52394042 C G SNP ZNF649 ENST00000354957 human ensembl 70_37 -1 known missense c.1347 p.K449N 0.256 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 56 54 49.09 90 0 0.00 ZNF653 115950 genome.wustl.edu 37 19 11597904 11597904 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 11597904 11597904 G A SNP ZNF653 ENST00000293771 human ensembl 70_37 -1 known missense c.1241 p.T414M 0.029 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 26 20 43.48 57 0 0.00 ZNF655 79027 genome.wustl.edu 37 7 99169959 99169959 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 99169959 99169959 C T SNP ZNF655 ENST00000424881 human ensembl 70_37 +1 known silent c.333 p.L111 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 19 10 34.48 41 0 0.00 ZNF655 79027 genome.wustl.edu 37 7 99172797 99172797 + RNA SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 7 99172797 99172797 G T SNP ZNF655 ENST00000419215 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors ZNF655 HGNC ENSG00000197343 23 4 14.81 35 0 0.00 ZNF655 79027 genome.wustl.edu 37 7 99173862 99173862 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 99173862 99173862 G C SNP ZNF655 ENST00000419215 human ensembl 70_37 +1 known rna NULL NULL 0.644 - - - no_errors ZNF655 HGNC ENSG00000197343 16 16 50.00 33 0 0.00 ZNF658 26149 genome.wustl.edu 37 9 40768503 40768503 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 40768503 40768503 C T SNP ZNF658 ENST00000479710 human ensembl 70_37 -1 known splice_site c.1854+1 e5+1 0.039 - - - no_errors ZNF658 HGNC ENSG00000196409 18 5 21.74 24 0 0.00 ZNF658 26149 genome.wustl.edu 37 9 40773898 40773898 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 40773898 40773898 C G SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known silent c.1377 p.L459 0.595 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 18 7 28.00 13 0 0.00 ZNF658 26149 genome.wustl.edu 37 9 40774032 40774032 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 9 40774032 40774032 C T SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known missense c.1243 p.E415K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 124 40 24.39 146 0 0.00 ZNF658 26149 genome.wustl.edu 37 9 40774575 40774575 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 40774575 40774575 G A SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known nonsense c.700 p.Q234* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 39 28 41.79 49 0 0.00 ZNF658 26149 genome.wustl.edu 37 9 40774728 40774728 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 40774728 40774728 G A SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known missense c.547 p.H183Y 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 42 25 37.31 78 0 0.00 ZNF660 285349 genome.wustl.edu 37 3 44636220 44636220 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 44636220 44636220 C G SNP ZNF660 ENST00000322734 human ensembl 70_37 +1 known missense c.535 p.Q179E 0.880 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 66 25 27.47 91 0 0.00 ZNF664 144348 genome.wustl.edu 37 12 124497247 124497247 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 124497247 124497247 C A SNP ZNF664 ENST00000337815 human ensembl 70_37 +1 known missense c.556 p.L186I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 32 5 13.51 30 0 0.00 ZNF665 79788 genome.wustl.edu 37 19 53668443 53668443 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 53668443 53668443 C T SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known missense c.1300 p.E434K 0.069 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 72 11 13.25 46 0 0.00 ZNF665 79788 genome.wustl.edu 37 19 53669241 53669241 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 53669241 53669241 C G SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known missense c.502 p.E168Q 0.044 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 23 23 50.00 41 0 0.00 ZNF665 79788 genome.wustl.edu 37 19 53669311 53669311 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 53669311 53669311 G A SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known silent c.432 p.S144 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 20 8 28.57 29 0 0.00 ZNF665 79788 genome.wustl.edu 37 19 53684675 53684676 + RNA INS - - A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 53684675 53684676 - A INS ZNF665 ENST00000598440 human ensembl 70_37 -1 known rna NULL NULL 0.037:0.031 - - - no_errors ZNF665 HGNC ENSG00000197497 30 4 11.76 29 0 0.00 ZNF667 63934 genome.wustl.edu 37 19 56953204 56953204 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 56953204 56953204 C T SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1544 p.R515K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 46 8 14.81 31 0 0.00 ZNF667 63934 genome.wustl.edu 37 19 56953219 56953219 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56953219 56953219 C G SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1529 p.G510A 0.011 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 24 19 44.19 31 0 0.00 ZNF667 63934 genome.wustl.edu 37 19 56953634 56953634 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56953634 56953634 G C SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1114 p.Q372E 0.001 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 75 35 31.82 60 0 0.00 ZNF668 79759 genome.wustl.edu 37 16 31072775 31072775 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 31072775 31072775 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.1543 p.R515W 0.163 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 16 3 15.79 57 0 0.00 ZNF668 79759 genome.wustl.edu 37 16 31073360 31073360 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 31073360 31073360 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.958 p.R320C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 21 6 22.22 33 0 0.00 ZNF668 79759 genome.wustl.edu 37 16 31075397 31075397 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 31075397 31075397 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known silent c.453 p.R151 0.527 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 22 12 35.29 44 0 0.00 ZNF668 79759 genome.wustl.edu 37 16 31075701 31075701 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31075701 31075701 C G SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.149 p.C50S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 32 7 17.95 23 0 0.00 ZNF669 79862 genome.wustl.edu 37 1 247265330 247265330 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 247265330 247265330 C G SNP ZNF669 ENST00000343381 human ensembl 70_37 -1 known missense c.347 p.R116T 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF669 HGNC ENSG00000188295 39 35 47.30 67 0 0.00 ZNF669 79862 genome.wustl.edu 37 1 247267393 247267393 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 1 247267393 247267393 C G SNP ZNF669 ENST00000343381 human ensembl 70_37 -1 known missense c.109 p.E37Q 0.064 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF669 HGNC ENSG00000188295 59 11 15.71 46 0 0.00 ZNF66 7617 genome.wustl.edu 37 19 20988925 20988925 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 20988925 20988925 C T SNP ZNF66P ENST00000425625 human ensembl 70_37 +1 known silent c.657 p.C219 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66P HGNC ENSG00000160229 83 23 21.70 99 0 0.00 ZNF66 7617 genome.wustl.edu 37 19 20989079 20989079 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 20989079 20989079 G A SNP ZNF66P ENST00000425625 human ensembl 70_37 +1 known missense c.811 p.G271R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66P HGNC ENSG00000160229 40 7 14.89 45 0 0.00 ZNF66 7617 genome.wustl.edu 37 19 20989966 20989966 + Nonsense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 20989966 20989966 C G SNP ZNF66P ENST00000344519 human ensembl 70_37 +1 novel nonsense c.1560 p.Y520* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66P HGNC ENSG00000160229 14 3 17.65 33 0 0.00 ZNF671 79891 genome.wustl.edu 37 19 58233778 58233778 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 58233778 58233778 G A SNP ZNF671 ENST00000601584 human ensembl 70_37 -1 known missense c.167 p.S56L 0.000 NULL NULL - no_errors ZNF671 HGNC ENSG00000083814 222 44 16.48 327 0 0.00 ZNF672 79894 genome.wustl.edu 37 1 249142781 249142781 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 249142781 249142781 C T SNP ZNF672 ENST00000306562 human ensembl 70_37 +1 known silent c.1308 p.L436 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 46 23 33.33 84 0 0.00 KRBOX4 55634 genome.wustl.edu 37 X 46332435 46332435 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd X 46332435 46332435 G C SNP ZNF673 ENST00000344302 human ensembl 70_37 +1 known missense c.504 p.K168N 0.036 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF673 HGNC ENSG00000147121 34 15 30.61 37 0 0.00 ZNF674 641339 genome.wustl.edu 37 X 46359523 46359523 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 46359523 46359523 C T SNP ZNF674 ENST00000523374 human ensembl 70_37 -1 known missense c.1501 p.D501N 0.595 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF674 HGNC ENSG00000251192 31 18 36.73 61 0 0.00 ZNF674 641339 genome.wustl.edu 37 X 46382534 46382534 + RNA SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 46382534 46382534 G C SNP ZNF674 ENST00000518795 human ensembl 70_37 -1 known rna NULL NULL 0.525 - - - no_errors ZNF674 HGNC ENSG00000251192 41 17 28.81 22 0 0.00 ZNF675 171392 genome.wustl.edu 37 19 23836182 23836182 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 23836182 23836182 C T SNP ZNF675 ENST00000359788 human ensembl 70_37 -1 known missense c.1553 p.S518N 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 84 11 11.46 39 0 0.00 ZNF675 171392 genome.wustl.edu 37 19 23837002 23837002 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23837002 23837002 C T SNP ZNF675 ENST00000359788 human ensembl 70_37 -1 known missense c.733 p.E245K 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 38 8 17.39 37 0 0.00 ZNF675 171392 genome.wustl.edu 37 19 23837076 23837076 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23837076 23837076 C A SNP ZNF675 ENST00000359788 human ensembl 70_37 -1 known missense c.659 p.R220I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 20 16 44.44 53 0 0.00 ZNF676 163223 genome.wustl.edu 37 19 22362882 22362882 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 22362882 22362882 G A SNP ZNF676 ENST00000397121 human ensembl 70_37 -1 known missense c.1637 p.S546L 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 71 14 16.47 180 0 0.00 ZNF676 163223 genome.wustl.edu 37 19 22364025 22364025 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22364025 22364025 C G SNP ZNF676 ENST00000397121 human ensembl 70_37 -1 known missense c.494 p.R165T 0.936 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 51 15 22.73 51 0 0.00 ZNF677 342926 genome.wustl.edu 37 19 53740238 53740238 + Nonsense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 53740238 53740238 G C SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known nonsense c.1742 p.S581* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 26 20 43.48 48 0 0.00 ZNF677 342926 genome.wustl.edu 37 19 53741496 53741496 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 53741496 53741496 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.484 p.D162H 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 42 31 42.47 47 0 0.00 ZNF677 342926 genome.wustl.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53741588 53741588 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.392 p.R131T 0.118 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 80 33 29.20 106 0 0.00 ZNF677 342926 genome.wustl.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 53741588 53741588 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.392 p.R131T 0.118 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 93 13 12.26 174 0 0.00 ZNF677 342926 genome.wustl.edu 37 19 53754791 53754791 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53754791 53754791 G C SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.154 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 31 12 27.91 42 0 0.00 ZNF678 339500 genome.wustl.edu 37 1 227842267 227842267 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227842267 227842267 T G SNP ZNF678 ENST00000397097 human ensembl 70_37 +1 known missense c.481 p.F161V 0.355 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 14 5 26.32 20 0 0.00 ZNF678 339500 genome.wustl.edu 37 1 227843441 227843441 + Missense_Mutation SNP G G C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 227843441 227843441 G C SNP ZNF678 ENST00000397097 human ensembl 70_37 +1 known missense c.1655 p.G552A 0.010 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 68 11 13.92 22 0 0.00 ZNF679 168417 genome.wustl.edu 37 7 63726618 63726618 + Nonsense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 63726618 63726618 C T SNP ZNF679 ENST00000255746 human ensembl 70_37 +1 known nonsense c.607 p.Q203* 0.799 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 51 18 26.09 55 0 0.00 ZNF680 340252 genome.wustl.edu 37 7 63981581 63981581 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 63981581 63981581 G A SNP ZNF680 ENST00000309683 human ensembl 70_37 -1 known silent c.1551 p.L517 0.009 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF680 HGNC ENSG00000173041 47 19 28.79 57 0 0.00 ZNF680 340252 genome.wustl.edu 37 7 63981679 63981679 + Missense_Mutation SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 63981679 63981679 C T SNP ZNF680 ENST00000309683 human ensembl 70_37 -1 known missense c.1453 p.A485T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF680 HGNC ENSG00000173041 72 15 16.85 30 0 0.00 ZNF680 340252 genome.wustl.edu 37 7 64023445 64023445 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 64023445 64023445 G C SNP ZNF680 ENST00000473601 human ensembl 70_37 -1 known rna NULL NULL 0.206 - - - no_errors ZNF680 HGNC ENSG00000173041 52 21 28.77 38 0 0.00 ZNF681 148213 genome.wustl.edu 37 19 23926771 23926771 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23926771 23926771 A C SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known missense c.1581 p.I527M 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 4 2 33.33 18 0 0.00 ZNF681 148213 genome.wustl.edu 37 19 23926852 23926852 + Silent SNP A A G TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 19 23926852 23926852 A G SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known silent c.1500 p.H500 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 29 4 12.12 61 0 0.00 ZNF681 148213 genome.wustl.edu 37 19 23926945 23926945 + Silent SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 23926945 23926945 T C SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known silent c.1407 p.K469 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 134 21 13.55 49 0 0.00 ZNF681 148213 genome.wustl.edu 37 19 23927026 23927026 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 23927026 23927026 A T SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known missense c.1326 p.N442K 0.897 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 74 10 11.90 24 0 0.00 ZNF681 148213 genome.wustl.edu 37 19 23927271 23927271 + Missense_Mutation SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 23927271 23927271 T C SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known missense c.1081 p.T361A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 24 11 31.43 30 0 0.00 ZNF682 91120 genome.wustl.edu 37 19 20150174 20150174 + RNA SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 20150174 20150174 C A SNP ZNF682 ENST00000599240 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF682 HGNC ENSG00000197124 39 22 36.07 72 0 0.00 ZNF683 257101 genome.wustl.edu 37 1 26694260 26694260 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 26694260 26694260 T C SNP ZNF683 ENST00000403843 human ensembl 70_37 -1 known missense c.143 p.D48G 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 75 21 21.88 117 0 0.00 ZNF684 127396 genome.wustl.edu 37 1 41010164 41010164 + Missense_Mutation SNP C C A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 41010164 41010164 C A SNP ZNF684 ENST00000372697 human ensembl 70_37 +1 known missense c.334 p.Q112K 0.073 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 24 3 11.11 30 0 0.00 ZNF684 127396 genome.wustl.edu 37 1 41012967 41012967 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 41012967 41012967 G A SNP ZNF684 ENST00000372699 human ensembl 70_37 +1 known silent c.972 p.E324 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 15 4 21.05 26 0 0.00 ZNF684 127396 genome.wustl.edu 37 1 41012986 41012986 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 41012986 41012986 G C SNP ZNF684 ENST00000372699 human ensembl 70_37 +1 known missense c.991 p.E331Q 0.049 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 16 5 23.81 34 0 0.00 ZNF687 57592 genome.wustl.edu 37 1 151259572 151259572 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 151259572 151259572 C T SNP ZNF687 ENST00000324048 human ensembl 70_37 +1 known missense c.805 p.H269Y 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 106 32 23.19 117 0 0.00 ZNF687 57592 genome.wustl.edu 37 1 151262918 151262918 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 151262918 151262918 G C SNP ZNF687 ENST00000324048 human ensembl 70_37 +1 known missense c.3088 p.E1030Q 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 149 37 19.89 133 0 0.00 ZNF688 146542 genome.wustl.edu 37 16 30581408 30581408 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 30581408 30581408 G A SNP ZNF688 ENST00000223459 human ensembl 70_37 -1 known silent c.660 p.F220 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 13 12 48.00 33 0 0.00 ZNF688 146542 genome.wustl.edu 37 16 30582364 30582364 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30582364 30582364 C G SNP ZNF688 ENST00000223459 human ensembl 70_37 -1 known missense c.277 p.E93Q 1.000 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 97 29 23.02 114 0 0.00 ZNF689 115509 genome.wustl.edu 37 16 30615816 30615816 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30615816 30615816 C T SNP ZNF689 ENST00000287461 human ensembl 70_37 -1 known silent c.1272 p.S424 0.207 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF689 HGNC ENSG00000156853 21 7 25.00 21 0 0.00 ZNF69 7620 genome.wustl.edu 37 19 12014480 12014480 + Silent SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 12014480 12014480 G C SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known silent c.156 p.V52 0.992 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ENSG00000198429 144 20 12.20 144 0 0.00 ZNF69 7620 genome.wustl.edu 37 19 12016104 12016104 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 12016104 12016104 C T SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known missense c.892 p.H298Y 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ENSG00000198429 65 28 30.11 103 0 0.00 ZNF69 7620 genome.wustl.edu 37 19 12016506 12016506 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 12016506 12016506 C G SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known missense c.1294 p.Q432E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ENSG00000198429 52 17 24.64 74 0 0.00 ZNF692 55657 genome.wustl.edu 37 1 249150111 249150111 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 249150111 249150111 G A SNP ZNF692 ENST00000451251 human ensembl 70_37 -1 known missense c.709 p.P237S 0.119 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 35 8 18.18 31 0 0.00 ZNF692 55657 genome.wustl.edu 37 1 249151477 249151477 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 249151477 249151477 C T SNP ZNF692 ENST00000451251 human ensembl 70_37 -1 known missense c.446 p.R149Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 47 42 47.19 93 0 0.00 ZNF695 57116 genome.wustl.edu 37 1 247150416 247150416 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 1 247150416 247150416 T A SNP ZNF695 ENST00000339986 human ensembl 70_37 -1 known missense c.1401 p.E467D 0.377 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 50 7 12.28 36 0 0.00 ZNF695 57116 genome.wustl.edu 37 1 247163260 247163260 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 247163260 247163260 C T SNP ZNF695 ENST00000339986 human ensembl 70_37 -1 known silent c.120 p.L40 0.677 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 37 16 30.19 45 0 0.00 ZNF696 79943 genome.wustl.edu 37 8 144375238 144375238 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 144375238 144375238 G A SNP ZNF696 ENST00000521537 human ensembl 70_37 +1 putative missense c.67 p.E23K 0.748 NULL NULL - no_errors ZNF696 HGNC ENSG00000185730 53 11 17.19 37 0 0.00 ZNF697 90874 genome.wustl.edu 37 1 120165604 120165604 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 120165604 120165604 G C SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known missense c.1362 p.N454K 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 24 15 38.46 57 0 0.00 ZNF697 90874 genome.wustl.edu 37 1 120166704 120166704 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 1 120166704 120166704 G A SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known missense c.262 p.R88C 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 43 17 28.33 75 0 0.00 ZNF697 90874 genome.wustl.edu 37 1 120168533 120168533 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 120168533 120168533 G C SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known nonsense c.191 p.S64* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 33 28 45.90 62 0 0.00 ZNF699 374879 genome.wustl.edu 37 19 9406915 9406915 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9406915 9406915 T C SNP ZNF699 ENST00000308650 human ensembl 70_37 -1 known missense c.1165 p.K389E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 25 12 32.43 60 0 0.00 ZNF699 374879 genome.wustl.edu 37 19 9407494 9407494 + Nonsense_Mutation SNP C C A TCGA-Q1-A73S-01A-11D-A33O-09 TCGA-Q1-A73S-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aed21183-ab50-4241-a9e5-cf1f53b0553b 79c73ac7-f2c4-425f-b6b2-430a00a96436 19 9407494 9407494 C A SNP ZNF699 ENST00000308650 human ensembl 70_37 -1 known nonsense c.586 p.E196* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 29 4 12.12 72 0 0.00 ZNF7 7553 genome.wustl.edu 37 8 146067954 146067954 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146067954 146067954 C T SNP ZNF7 ENST00000325241 human ensembl 70_37 +1 known nonsense c.1462 p.Q488* 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ENSG00000147789 38 14 26.92 23 0 0.00 ZNF7 7553 genome.wustl.edu 37 8 146068094 146068094 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 146068094 146068094 C T SNP ZNF7 ENST00000325241 human ensembl 70_37 +1 known silent c.1602 p.F534 0.476 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ENSG00000147789 14 11 44.00 26 0 0.00 ZNF70 7621 genome.wustl.edu 37 22 24086430 24086430 + Missense_Mutation SNP G G A TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 22 24086430 24086430 G A SNP ZNF70 ENST00000341976 human ensembl 70_37 -1 known missense c.898 p.R300W 0.930 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 26 12 30.77 45 0 0.00 ZNF700 90592 genome.wustl.edu 37 19 12059989 12059989 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 12059989 12059989 C T SNP ZNF700 ENST00000254321 human ensembl 70_37 +1 known missense c.1150 p.H384Y 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 36 32 47.06 107 0 0.00 ZNF700 90592 genome.wustl.edu 37 19 12060821 12060821 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 12060821 12060821 C T SNP ZNF700 ENST00000254321 human ensembl 70_37 +1 known missense c.1982 p.S661F 0.034 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 15 3 16.67 32 0 0.00 ZNF701 55762 genome.wustl.edu 37 19 53059187 53059187 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 53059187 53059187 G C SNP ZNF701 ENST00000478039 human ensembl 70_37 +1 known rna NULL NULL 0.942 - - - no_errors ZNF701 HGNC ENSG00000167562 35 4 10.26 32 0 0.00 ZNF701 55762 genome.wustl.edu 37 19 53077398 53077398 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 53077398 53077398 G T SNP ZNF701 ENST00000301093 human ensembl 70_37 +1 known missense c.196 p.G66W 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 208 43 17.13 211 0 0.00 ZNF702P 79986 genome.wustl.edu 37 19 53473006 53473006 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473006 53473006 A G SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors ZNF702P HGNC ENSG00000242779 35 4 10.26 66 0 0.00 ZNF702P 79986 genome.wustl.edu 37 19 53473389 53473389 + RNA SNP T T C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 19 53473389 53473389 T C SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.155 - - - no_errors ZNF702P HGNC ENSG00000242779 35 6 14.63 64 0 0.00 ZNF702P 79986 genome.wustl.edu 37 19 53473542 53473542 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473542 53473542 C A SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF702P HGNC ENSG00000242779 21 14 40.00 64 0 0.00 ZNF702P 79986 genome.wustl.edu 37 19 53473857 53473857 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473857 53473857 A C SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF702P HGNC ENSG00000242779 41 6 12.77 52 0 0.00 ZNF703 80139 genome.wustl.edu 37 8 37556024 37556024 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 37556024 37556024 G T SNP ZNF703 ENST00000331569 human ensembl 70_37 +1 known silent c.1605 p.R535 1.000 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 18 12 40.00 42 0 0.00 ZNF703 80139 genome.wustl.edu 37 8 37556105 37556105 + Silent SNP G G T TCGA-FU-A57G-01A-11D-A26G-09 TCGA-FU-A57G-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq feec64b6-4789-4b18-8664-27eeefb36a57 8688044c-e6a4-45a0-9266-dde6e8873fc9 8 37556105 37556105 G T SNP ZNF703 ENST00000331569 human ensembl 70_37 +1 known silent c.1686 p.P562 0.925 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 17 6 26.09 25 0 0.00 ZNF705E 100131539 genome.wustl.edu 37 11 71527078 71527078 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 71527078 71527078 G A SNP ZNF705E ENST00000525199 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF705E HGNC ENSG00000214534 30 23 43.40 36 0 0.00 ZNF705E 100131539 genome.wustl.edu 37 11 71527750 71527750 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 71527750 71527750 A C SNP ZNF705E ENST00000525199 human ensembl 70_37 -1 known rna NULL NULL 0.595 - - - no_errors ZNF705E HGNC ENSG00000214534 68 30 30.61 145 0 0.00 ZNF705G 100131980 genome.wustl.edu 37 8 7217855 7217855 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 7217855 7217855 C A SNP ZNF705G ENST00000400078 human ensembl 70_37 -1 known splice_site c.140-1 e3-1 0.122 - - - no_errors ZNF705G HGNC ENSG00000215372 132 21 13.64 249 0 0.00 ZNF707 286075 genome.wustl.edu 37 8 144773223 144773223 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 144773223 144773223 G A SNP ZNF707 ENST00000530341 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors ZNF707 HGNC ENSG00000181135 40 25 38.46 62 0 0.00 ZNF707 286075 genome.wustl.edu 37 8 144776075 144776075 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776075 144776075 G C SNP ZNF707 ENST00000358656 human ensembl 70_37 +1 known missense c.491 p.R164T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ENSG00000181135 9 5 33.33 14 0 0.00 ZNF707 286075 genome.wustl.edu 37 8 144776287 144776287 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776287 144776287 G A SNP ZNF707 ENST00000358656 human ensembl 70_37 +1 known missense c.703 p.E235K 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ENSG00000181135 25 15 37.50 20 0 0.00 ZNF707 286075 genome.wustl.edu 37 8 144776766 144776766 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776766 144776766 G C SNP ZNF707 ENST00000527561 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF707 HGNC ENSG00000181135 100 43 29.86 107 0 0.00 ZNF708 7562 genome.wustl.edu 37 19 21476519 21476519 + Missense_Mutation SNP T T C TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 21476519 21476519 T C SNP ZNF708 ENST00000356929 human ensembl 70_37 -1 known missense c.1249 p.K417E 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF708 HGNC ENSG00000182141 101 12 10.62 29 0 0.00 ZNF708 7562 genome.wustl.edu 37 19 21477341 21477341 + Missense_Mutation SNP C C G TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 21477341 21477341 C G SNP ZNF708 ENST00000356929 human ensembl 70_37 -1 known missense c.427 p.D143H 0.008 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF708 HGNC ENSG00000182141 35 13 27.08 100 0 0.00 ZNF709 163051 genome.wustl.edu 37 19 12606284 12606284 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12606284 12606284 G C SNP ZNF709 ENST00000493776 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF709 HGNC ENSG00000242852 3 5 62.50 8 0 0.00 ZNF71 58491 genome.wustl.edu 37 19 57132752 57132752 + Missense_Mutation SNP C C T TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1eb9870a-29fc-4eea-afed-b0b63fac10f1 f953aee9-2d96-4247-a737-20f021934cf3 19 57132752 57132752 C T SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known missense c.97 p.P33S 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 18 10 35.71 19 0 0.00 ZNF71 58491 genome.wustl.edu 37 19 57133525 57133525 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 57133525 57133525 C T SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known silent c.870 p.R290 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 53 6 10.00 91 0 0.00 ZNF71 58491 genome.wustl.edu 37 19 57133912 57133912 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 57133912 57133912 C T SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known silent c.1257 p.F419 0.971 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 60 15 20.00 74 0 0.00 ZNF71 58491 genome.wustl.edu 37 19 57134007 57134007 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57134007 57134007 C A SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known missense c.1352 p.S451Y 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 45 19 29.69 89 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84502592 84502592 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 84502592 84502592 G T SNP ZNF711 ENST00000276123 human ensembl 70_37 +1 known missense c.14 p.G5V 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 58 26 30.23 82 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84520160 84520160 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 84520160 84520160 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.749 p.S250N 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 47 20 29.85 116 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84525754 84525754 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 84525754 84525754 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.1230 p.M410I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 15 10 40.00 20 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84525770 84525770 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 84525770 84525770 C T SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.1246 p.H416Y 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 9 16 64.00 54 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84526709 84526709 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 84526709 84526709 C T SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known nonsense c.2185 p.R729* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 46 10 17.86 28 0 0.00 ZNF711 7552 genome.wustl.edu 37 X 84526761 84526761 + Missense_Mutation SNP G G A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 X 84526761 84526761 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.2237 p.C746Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 17 12 41.38 38 0 0.00 ZNF714 148206 genome.wustl.edu 37 19 21299966 21299966 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 21299966 21299966 C T SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.496 p.H166Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 24 4 14.29 21 0 0.00 ZNF714 148206 genome.wustl.edu 37 19 21300204 21300204 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 21300204 21300204 C T SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.734 p.T245I 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 12 12 50.00 33 0 0.00 ZNF714 148206 genome.wustl.edu 37 19 21300302 21300302 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 21300302 21300302 C G SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.832 p.H278D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 30 7 18.92 42 0 0.00 ZNF716 441234 genome.wustl.edu 37 7 57528744 57528744 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 57528744 57528744 T C SNP ZNF716 ENST00000420713 human ensembl 70_37 +1 known missense c.577 p.S193P 0.363 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 29 10 25.64 74 0 0.00 ZNF716 441234 genome.wustl.edu 37 7 57529078 57529078 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 57529078 57529078 C A SNP ZNF716 ENST00000420713 human ensembl 70_37 +1 known missense c.911 p.A304D 0.720 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 23 3 11.54 36 0 0.00 ZNF717 100131827 genome.wustl.edu 37 3 75759465 75759465 + RNA SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 3 75759465 75759465 C T SNP ZNF717 ENST00000491507 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors ZNF717 HGNC ENSG00000227124 5 4 44.44 17 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31724630 31724630 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 31724630 31724630 C G SNP ZNF720 ENST00000531864 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF720 HGNC ENSG00000197302 28 26 48.15 43 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31724683 31724683 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 31724683 31724683 C G SNP ZNF720 ENST00000531864 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF720 HGNC ENSG00000197302 39 26 40.00 71 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31733961 31733961 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31733961 31733961 C T SNP ZNF720 ENST00000529943 human ensembl 70_37 +1 known nonsense c.31 p.Q11* 0.961 NULL NULL - no_errors ZNF720 HGNC ENSG00000197302 102 18 15.00 127 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31765213 31765213 + Missense_Mutation SNP A A T TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 16 31765213 31765213 A T SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known missense c.155 p.E52V 0.052 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 20 8 28.57 38 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31766154 31766154 + Nonsense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 31766154 31766154 C G SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known nonsense c.542 p.S181* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 37 33 47.14 34 0 0.00 ZNF720 124411 genome.wustl.edu 37 16 31766511 31766511 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 31766511 31766511 G T SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known missense c.899 p.R300I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 21 19 47.50 44 0 0.00 ZNF721 170960 genome.wustl.edu 37 4 437142 437142 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 437142 437142 G A SNP ZNF721 ENST00000511833 human ensembl 70_37 -1 known missense c.1114 p.R372W 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 44 34 43.59 48 0 0.00 ZNF724P 440519 genome.wustl.edu 37 19 23405220 23405220 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 23405220 23405220 C T SNP ZNF724P ENST00000418100 human ensembl 70_37 -1 novel silent c.1827 p.K609 0.120 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 13 6 31.58 33 0 0.00 ZNF724P 440519 genome.wustl.edu 37 19 23405575 23405575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 23405575 23405575 G A SNP ZNF724P ENST00000418100 human ensembl 70_37 -1 novel missense c.1472 p.S491L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 14 8 36.36 14 0 0.00 ZNF724P 440519 genome.wustl.edu 37 19 23414089 23414089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 23414089 23414089 C G SNP ZNF724P ENST00000597037 human ensembl 70_37 -1 putative missense c.205 p.E69Q 0.013 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 150 24 13.79 196 0 0.00 ZNF726 730087 genome.wustl.edu 37 19 24116063 24116063 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 24116063 24116063 C T SNP ZNF726 ENST00000322487 human ensembl 70_37 +1 known missense c.1145 p.S382L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF726 HGNC ENSG00000213967 19 3 13.64 30 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538354 63538354 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 63538354 63538354 G A SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known silent c.927 p.E309 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 10 9 47.37 13 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538449 63538449 + Missense_Mutation SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 63538449 63538449 T A SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known missense c.1022 p.I341N 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 38 5 11.63 16 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538450 63538450 + Silent SNP T T A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 7 63538450 63538450 T A SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known silent c.1023 p.I341 0.014 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 37 5 11.90 16 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538653 63538653 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 63538653 63538653 C T SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known missense c.1226 p.S409L 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 28 26 48.15 33 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538653 63538653 + Missense_Mutation SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 63538653 63538653 C T SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known missense c.1226 p.S409L 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 8 5 38.46 18 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538876 63538876 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 63538876 63538876 G C SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known missense c.1449 p.K483N 0.069 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 7 8 53.33 25 0 0.00 ZNF727 442319 genome.wustl.edu 37 7 63538904 63538904 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 63538904 63538904 C T SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known nonsense c.1477 p.Q493* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 13 13 50.00 21 0 0.00 ZNF728 388523 genome.wustl.edu 37 19 23159703 23159703 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 23159703 23159703 G A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel nonsense c.436 p.Q146* 0.037 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 59 48 44.86 117 0 0.00 ZNF728 388523 genome.wustl.edu 37 19 23171134 23171134 + Silent SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 23171134 23171134 G T SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel silent c.123 p.V41 0.976 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 109 14 11.38 103 0 0.00 ZNF728 388523 genome.wustl.edu 37 19 23171152 23171152 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23171152 23171152 C A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel missense c.105 p.E35D 0.893 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 27 8 22.86 76 0 0.00 ZNF728 388523 genome.wustl.edu 37 19 23171255 23171255 + Splice_Site SNP T T A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 23171255 23171255 T A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel splice_site c.4-2 e2-2 0.072 - - - no_errors ZNF728 HGNC ENSG00000269067 102 42 29.17 153 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22487564 22487564 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22487564 22487564 G C SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.232 p.E78Q 0.057 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 76 32 29.63 71 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22497341 22497341 + Missense_Mutation SNP A A C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22497341 22497341 A C SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.1122 p.K374N 0.546 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 13 7 35.00 12 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22497953 22497953 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22497953 22497953 C G SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel silent c.1734 p.G578 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 50 6 10.71 47 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22498461 22498461 + Missense_Mutation SNP T T G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22498461 22498461 T G SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.2242 p.S748A 0.256 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 35 10 21.74 17 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22499442 22499442 + Missense_Mutation SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 22499442 22499442 C G SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.3223 p.P1075A 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 26 10 27.78 43 0 0.00 ZNF729 100287226 genome.wustl.edu 37 19 22499446 22499446 + Missense_Mutation SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22499446 22499446 G A SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.3227 p.C1076Y 0.014 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 81 12 12.90 42 0 0.00 ZNF730 100129543 genome.wustl.edu 37 19 23316967 23316967 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 23316967 23316967 G A SNP ZNF730 ENST00000327867 human ensembl 70_37 +1 known missense c.89 p.R30K 0.040 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 45 5 10.00 47 0 0.00 ZNF730 100129543 genome.wustl.edu 37 19 23318765 23318765 + Missense_Mutation SNP A A T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 23318765 23318765 A T SNP ZNF730 ENST00000327867 human ensembl 70_37 +1 known missense c.146 p.K49M 0.017 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 35 24 40.68 72 0 0.00 ZNF730 100129543 genome.wustl.edu 37 19 23328857 23328857 + Silent SNP A A G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 23328857 23328857 A G SNP ZNF730 ENST00000327867 human ensembl 70_37 +1 known silent c.1011 p.E337 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 56 8 12.50 16 0 0.00 ZNF732 654254 genome.wustl.edu 37 4 265445 265445 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 265445 265445 G A SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known missense c.1201 p.R401W 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 26 13 33.33 25 0 0.00 ZNF732 654254 genome.wustl.edu 37 4 265510 265510 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 265510 265510 T G SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known missense c.1136 p.K379T 0.013 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 7 8 53.33 29 0 0.00 ZNF732 654254 genome.wustl.edu 37 4 266109 266109 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 266109 266109 G A SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known silent c.537 p.F179 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 37 27 42.19 46 0 0.00 ZNF732 654254 genome.wustl.edu 37 4 266185 266185 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 266185 266185 G C SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known nonsense c.461 p.S154* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 49 19 27.94 76 0 0.00 ZNF733P 643955 genome.wustl.edu 37 7 62752082 62752082 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 62752082 62752082 C G SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF733P HGNC ENSG00000185037 8 4 33.33 34 0 0.00 ZNF733P 643955 genome.wustl.edu 37 7 62752248 62752248 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 62752248 62752248 C G SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF733P HGNC ENSG00000185037 27 9 25.00 27 0 0.00 ZNF733P 643955 genome.wustl.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 62752415 62752416 - C INS ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF733P HGNC ENSG00000185037 31 5 13.89 29 0 0.00 ZNF733P 643955 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 17 3 15.00 14 0 0.00 ZNF737 100129842 genome.wustl.edu 37 19 20727556 20727556 + Nonsense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20727556 20727556 G A SNP ZNF737 ENST00000427401 human ensembl 70_37 -1 known nonsense c.1453 p.R485* 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 17 9 34.62 32 0 0.00 ZNF737 100129842 genome.wustl.edu 37 19 20728085 20728085 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 20728085 20728085 G A SNP ZNF737 ENST00000427401 human ensembl 70_37 -1 known silent c.924 p.S308 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 78 9 10.34 32 0 0.00 ZNF737 100129842 genome.wustl.edu 37 19 20736569 20736569 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 20736569 20736569 G A SNP ZNF737 ENST00000427401 human ensembl 70_37 -1 known missense c.76 p.R26W 0.861 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 47 27 36.49 76 0 0.00 ZNF74 7625 genome.wustl.edu 37 22 20755625 20755625 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 20755625 20755625 G A SNP ZNF74 ENST00000356671 human ensembl 70_37 +1 known nonsense c.306 p.W102* 0.954 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 24 12 33.33 18 0 0.00 ZNF74 7625 genome.wustl.edu 37 22 20760282 20760282 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 20760282 20760282 A G SNP ZNF74 ENST00000356671 human ensembl 70_37 +1 known missense c.959 p.N320S 0.268 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 57 17 22.97 105 0 0.00 ZNF740 283337 genome.wustl.edu 37 12 53579210 53579210 + Missense_Mutation SNP G G C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 12 53579210 53579210 G C SNP ZNF740 ENST00000416904 human ensembl 70_37 +1 known missense c.199 p.D67H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ENSG00000139651 12 12 50.00 27 0 0.00 ZNF746 155061 genome.wustl.edu 37 7 149171493 149171493 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 149171493 149171493 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known silent c.1920 p.T640 0.000 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 34 6 14.63 41 0 0.00 ZNF746 155061 genome.wustl.edu 37 7 149171621 149171621 + Nonsense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73250f8e-2d08-4215-8cac-bcfcc9165aa5 3c8c024c-0290-44ab-8858-977dc83be80a 7 149171621 149171621 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known nonsense c.1792 p.R598* 0.930 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 26 8 22.86 44 0 0.00 ZNF746 155061 genome.wustl.edu 37 7 149172453 149172453 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 149172453 149172453 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known silent c.960 p.F320 0.018 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 69 12 14.81 102 0 0.00 ZNF746 155061 genome.wustl.edu 37 7 149191319 149191319 + Silent SNP C C T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 7 149191319 149191319 C T SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known silent c.300 p.P100 0.930 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 44 6 11.54 81 0 0.00 ZNF747 65988 genome.wustl.edu 37 16 30545824 30545824 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30545824 30545824 C G SNP ZNF747 ENST00000535210 human ensembl 70_37 -1 known missense c.177 p.R59S 0.993 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 22 9 29.03 29 0 0.00 ZNF749 388567 genome.wustl.edu 37 19 57946915 57946915 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57946915 57946915 C G SNP ZNF749 ENST00000597296 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF749 HGNC ENSG00000186230 44 17 27.87 44 0 0.00 ZNF749 388567 genome.wustl.edu 37 19 57954952 57954952 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57954952 57954952 C T SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known missense c.436 p.H146Y 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 19 26 57.78 41 0 0.00 ZNF749 388567 genome.wustl.edu 37 19 57955457 57955457 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57955457 57955457 T C SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known missense c.941 p.V314A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 9 6 40.00 23 0 0.00 ZNF749 388567 genome.wustl.edu 37 19 57956145 57956145 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 57956145 57956145 C G SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known silent c.1629 p.L543 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 74 22 22.92 65 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80788294 80788294 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 80788294 80788294 C G SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.1896 p.Q632H 0.999 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 52 9 14.75 83 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789323 80789323 + Silent SNP T T A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 80789323 80789323 T A SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known silent c.1008 p.P336 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 31 6 15.38 63 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789326 80789326 + Silent SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 80789326 80789326 G A SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known silent c.1005 p.L335 0.294 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 32 5 13.51 65 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789328 80789328 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 17 80789328 80789328 G A SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.1003 p.L335F 0.279 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 28 6 17.65 63 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789552 80789553 + Frame_Shift_Ins INS - - G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 80789552 80789553 - G INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.779_778 p.L260fs 0.484:0.793 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 17 15 46.88 63 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789562 80789563 + Frame_Shift_Ins INS - - GTAGATGGGG TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 80789562 80789563 - GTAGATGGGG INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.769_768 p.S256fs 0.902:0.927 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 32 10 23.81 82 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789577 80789578 + Frame_Shift_Ins INS - - C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 17 80789577 80789578 - C INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.754_753 p.L251fs 0.984:0.292 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 34 22 39.29 98 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789825 80789826 + Frame_Shift_Ins INS - - T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 80789825 80789826 - T INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.506_505 p.R169fs 1.000:1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 62 41 39.81 94 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789924 80789924 + Nonsense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 74b18995-a18c-48d8-8838-669f3cb22935 2bc8a678-99d2-4051-8e89-d874215f5d2d 17 80789924 80789924 G T SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known nonsense c.407 p.S136* 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 55 28 33.73 41 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80789969 80789969 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 80789969 80789969 C T SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.362 p.G121E 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 64 20 23.81 82 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80790161 80790161 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 80790161 80790161 G C SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known nonsense c.170 p.S57* 0.995 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 25 7 21.88 30 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80790291 80790291 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80790291 80790291 A C SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.40 p.Y14D 1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 52 70 57.38 162 0 0.00 ZNF750 79755 genome.wustl.edu 37 17 80790328 80790328 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 80790328 80790328 C G SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 32 25 43.86 75 0 0.00 ZNF75A 7627 genome.wustl.edu 37 16 3358639 3358639 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3358639 3358639 G T SNP ZNF75A ENST00000498240 human ensembl 70_37 +1 known rna NULL NULL 0.881 - - - no_errors ZNF75A HGNC ENSG00000162086 8 4 33.33 30 0 0.00 ZNF75A 7627 genome.wustl.edu 37 16 3361824 3361824 + RNA SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 16 3361824 3361824 G A SNP ZNF75A ENST00000498240 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF75A HGNC ENSG00000162086 17 12 41.38 32 0 0.00 ZNF75D 7626 genome.wustl.edu 37 X 134421467 134421467 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 134421467 134421467 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known missense c.1135 p.D379N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 44 11 19.64 30 0 0.00 ZNF75D 7626 genome.wustl.edu 37 X 134421467 134421467 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 134421467 134421467 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known missense c.1135 p.D379N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 90 22 19.64 95 0 0.00 ZNF75D 7626 genome.wustl.edu 37 X 134427773 134427773 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 134427773 134427773 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known silent c.294 p.L98 0.790 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 43 14 24.56 32 0 0.00 ZNF76 7629 genome.wustl.edu 37 6 35259070 35259070 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 6 35259070 35259070 G T SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known missense c.641 p.S214I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 28 4 12.50 37 0 0.00 ZNF76 7629 genome.wustl.edu 37 6 35260389 35260389 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35260389 35260389 G A SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known silent c.990 p.S330 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 100 28 21.88 122 0 0.00 ZNF76 7629 genome.wustl.edu 37 6 35260671 35260671 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 35260671 35260671 C T SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known silent c.1179 p.A393 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 61 24 28.24 73 0 0.00 ZNF76 7629 genome.wustl.edu 37 6 35261672 35261672 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 6 35261672 35261672 G A SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known missense c.1474 p.D492N 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 19 7 26.92 49 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53958029 53958029 + RNA SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53958029 53958029 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors ZNF761 HGNC ENSG00000160336 97 13 11.82 122 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53958186 53958186 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53958186 53958186 C T SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors ZNF761 HGNC ENSG00000160336 97 18 15.65 103 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53958209 53958209 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 53958209 53958209 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors ZNF761 HGNC ENSG00000160336 31 20 39.22 62 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53958418 53958418 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53958418 53958418 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.245 - - - no_errors ZNF761 HGNC ENSG00000160336 78 39 33.33 100 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53958477 53958477 + RNA SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 53958477 53958477 C G SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.627 - - - no_errors ZNF761 HGNC ENSG00000160336 142 16 10.06 89 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53959137 53959137 + RNA SNP G G T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 53959137 53959137 G T SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF761 HGNC ENSG00000160336 80 14 14.89 73 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53960251 53960251 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53960251 53960251 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.051 - - - no_errors ZNF761 HGNC ENSG00000160336 13 8 38.10 31 0 0.00 ZNF761 388561 genome.wustl.edu 37 19 53960273 53960273 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 53960273 53960273 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 12 4 25.00 18 0 0.00 ZNF763 284390 genome.wustl.edu 37 19 12089292 12089292 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12089292 12089292 T C SNP ZNF763 ENST00000538752 human ensembl 70_37 +1 known missense c.613 p.S205P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF763 HGNC ENSG00000197054 35 8 18.60 54 0 0.00 ZNF763 284390 genome.wustl.edu 37 19 12089811 12089811 + Missense_Mutation SNP C C A TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 12089811 12089811 C A SNP ZNF763 ENST00000538752 human ensembl 70_37 +1 known missense c.1132 p.H378N 0.979 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF763 HGNC ENSG00000197054 12 16 57.14 52 0 0.00 ZNF764 92595 genome.wustl.edu 37 16 30566961 30566961 + Missense_Mutation SNP A A C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 30566961 30566961 A C SNP ZNF764 ENST00000252797 human ensembl 70_37 -1 known missense c.781 p.C261G 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF764 HGNC ENSG00000169951 25 6 19.35 47 0 0.00 ZNF764 92595 genome.wustl.edu 37 16 30567088 30567088 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30567088 30567088 C G SNP ZNF764 ENST00000252797 human ensembl 70_37 -1 known silent c.654 p.L218 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF764 HGNC ENSG00000169951 55 14 20.29 58 0 0.00 ZNF765 91661 genome.wustl.edu 37 19 53911453 53911453 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 53911453 53911453 C T SNP ZNF765 ENST00000396408 human ensembl 70_37 +1 known silent c.645 p.F215 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF765 HGNC ENSG00000196417 39 30 42.25 53 0 0.00 ZNF765 91661 genome.wustl.edu 37 19 53926416 53926416 + Missense_Mutation SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 53926416 53926416 C G SNP ZNF765 ENST00000507045 human ensembl 70_37 +1 known missense c.117 p.N39K 0.003 NULL NULL - no_errors ZNF765 HGNC ENSG00000196417 29 12 29.27 10 0 0.00 ZNF765 91661 genome.wustl.edu 37 19 53926630 53926630 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 53926630 53926630 C T SNP ZNF765 ENST00000594627 human ensembl 70_37 +1 known rna NULL NULL 0.082 - - - no_errors ZNF765 HGNC ENSG00000196417 4 4 50.00 11 0 0.00 ZNF766 90321 genome.wustl.edu 37 19 52794063 52794063 + Nonsense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 52794063 52794063 C G SNP ZNF766 ENST00000359102 human ensembl 70_37 +1 known nonsense c.1064 p.S355* 0.118 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 10 13 56.52 22 0 0.00 ZNF767 79970 genome.wustl.edu 37 7 149250078 149250078 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149250078 149250078 G A SNP ZNF767 ENST00000463567 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZNF767 HGNC ENSG00000133624 11 8 42.11 16 0 0.00 ZNF767 79970 genome.wustl.edu 37 7 149318527 149318527 + RNA SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 7 149318527 149318527 C T SNP ZNF767 ENST00000463567 human ensembl 70_37 -1 known rna NULL NULL 0.899 - - - no_errors ZNF767 HGNC ENSG00000133624 26 17 39.53 59 0 0.00 ZNF768 79724 genome.wustl.edu 37 16 30536174 30536174 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 16 30536174 30536174 G C SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.1287 p.F429L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 26 13 33.33 39 0 0.00 ZNF768 79724 genome.wustl.edu 37 16 30536771 30536771 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 30536771 30536771 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known silent c.690 p.E230 1.000 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 18 14 43.75 38 0 0.00 ZNF768 79724 genome.wustl.edu 37 16 30537365 30537365 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 30537365 30537365 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.96 p.M32I 0.721 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 22 4 15.38 23 0 0.00 ZNF768 79724 genome.wustl.edu 37 16 30537662 30537662 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 30537662 30537662 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known missense c.73 p.E25K 0.489 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 13 12 48.00 26 0 0.00 ZNF77 58492 genome.wustl.edu 37 19 2933928 2933928 + Silent SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 2933928 2933928 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known silent c.1197 p.V399 0.340 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 17 26 60.47 49 0 0.00 ZNF77 58492 genome.wustl.edu 37 19 2934414 2934414 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2934414 2934414 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known silent c.711 p.Q237 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 73 17 18.89 51 0 0.00 ZNF77 58492 genome.wustl.edu 37 19 2934814 2934814 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 2934814 2934814 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known splice_site c.312-1 e4-1 0.856 - - - no_errors ZNF77 HGNC ENSG00000175691 24 14 36.84 47 0 0.00 ZNF770 54989 genome.wustl.edu 37 15 35274379 35274379 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 35274379 35274379 C T SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known silent c.1257 p.L419 0.743 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 109 16 12.80 154 0 0.00 ZNF770 54989 genome.wustl.edu 37 15 35274573 35274573 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 35274573 35274573 G A SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known nonsense c.1063 p.Q355* 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 24 9 27.27 20 0 0.00 ZNF770 54989 genome.wustl.edu 37 15 35275294 35275294 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 35275294 35275294 G A SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known silent c.342 p.V114 0.885 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 42 22 34.38 37 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58016764 58016764 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58016764 58016764 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known silent c.258 p.L86 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 136 17 11.11 72 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58017749 58017749 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58017749 58017749 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.286 p.E96Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 19 11 36.67 40 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58017753 58017753 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58017753 58017753 C A SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.290 p.A97E 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 40 8 16.67 60 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018106 58018106 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018106 58018106 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.643 p.G215W 0.960 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 158 36 18.56 108 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018106 58018106 + Missense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018106 58018106 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.643 p.G215W 0.960 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 81 28 25.69 36 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018107 58018107 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018107 58018107 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.644 p.G215A 0.961 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 157 37 19.07 104 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018107 58018107 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58018107 58018107 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.644 p.G215A 0.961 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 81 28 25.69 36 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018347 58018347 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58018347 58018347 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.884 p.R295I 0.140 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 35 4 10.00 62 0 0.00 ZNF773 374928 genome.wustl.edu 37 19 58018541 58018541 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58018541 58018541 G C SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.1078 p.E360Q 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 64 15 18.99 102 0 0.00 ZNF774 342132 genome.wustl.edu 37 15 90903469 90903469 + Nonsense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 90903469 90903469 G T SNP ZNF774 ENST00000354377 human ensembl 70_37 +1 known nonsense c.406 p.E136* 0.500 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 19 6 24.00 43 0 0.00 ZNF774 342132 genome.wustl.edu 37 15 90903722 90903722 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 15 90903722 90903722 C T SNP ZNF774 ENST00000354377 human ensembl 70_37 +1 known missense c.659 p.S220L 0.296 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 10 4 28.57 21 0 0.00 ZNF775 285971 genome.wustl.edu 37 7 150093838 150093838 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 150093838 150093838 G A SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.269 p.G90E 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 2 3 60.00 12 0 0.00 ZNF775 285971 genome.wustl.edu 37 7 150094608 150094608 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 150094608 150094608 C T SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.1039 p.R347C 0.958 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 2 4 66.67 12 0 0.00 ZNF775 285971 genome.wustl.edu 37 7 150095001 150095001 + Missense_Mutation SNP G G A TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 7 150095001 150095001 G A SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.1432 p.E478K 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 54 36 39.56 19 0 0.00 ZNF776 284309 genome.wustl.edu 37 19 58258211 58258212 + RNA INS - - T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 58258211 58258212 - T INS ZNF776 ENST00000473585 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF776 HGNC ENSG00000152443 37 21 36.21 35 0 0.00 ZNF776 284309 genome.wustl.edu 37 19 58265783 58265783 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58265783 58265783 G A SNP ZNF776 ENST00000317178 human ensembl 70_37 +1 known missense c.1285 p.E429K 0.973 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF776 HGNC ENSG00000152443 55 24 30.38 66 0 0.00 ZNF777 27153 genome.wustl.edu 37 7 149129368 149129368 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 149129368 149129368 C T SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known silent c.1995 p.T665 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 11 23 67.65 29 0 0.00 ZNF777 27153 genome.wustl.edu 37 7 149129368 149129368 + Silent SNP C C T TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 7 149129368 149129368 C T SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known silent c.1995 p.T665 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 89 84 48.28 218 0 0.00 ZNF777 27153 genome.wustl.edu 37 7 149152526 149152526 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 149152526 149152526 C T SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known silent c.588 p.E196 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 44 5 10.20 40 0 0.00 ZNF777 27153 genome.wustl.edu 37 7 149153010 149153010 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 149153010 149153010 G C SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known missense c.104 p.S35C 0.082 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 12 9 42.86 21 0 0.00 ZNF778 197320 genome.wustl.edu 37 16 89293162 89293162 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 89293162 89293162 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known missense c.382 p.E128K 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 28 18 39.13 27 0 0.00 ZNF778 197320 genome.wustl.edu 37 16 89294118 89294118 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 89294118 89294118 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known silent c.1338 p.E446 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 30 14 31.82 45 0 0.00 ZNF778 197320 genome.wustl.edu 37 16 89294284 89294284 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 16 89294284 89294284 G A SNP ZNF778 ENST00000433976 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 18 8 30.77 33 0 0.00 ZNF780A 284323 genome.wustl.edu 37 19 40580980 40580980 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 19 40580980 40580980 G A SNP ZNF780A ENST00000455521 human ensembl 70_37 -1 known missense c.1372 p.H458Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ENSG00000197782 75 15 16.67 49 0 0.00 ZNF780A 284323 genome.wustl.edu 37 19 40581202 40581202 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 40581202 40581202 G A SNP ZNF780A ENST00000455521 human ensembl 70_37 -1 known missense c.1150 p.H384Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ENSG00000197782 60 30 32.97 86 0 0.00 ZNF780B 163131 genome.wustl.edu 37 19 40540448 40540448 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40540448 40540448 C A SNP ZNF780B ENST00000434248 human ensembl 70_37 -1 known missense c.2318 p.S773I 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 12 3 20.00 37 0 0.00 ZNF780B 163131 genome.wustl.edu 37 19 40554664 40554664 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 40554664 40554664 G C SNP ZNF780B ENST00000434248 human ensembl 70_37 -1 known missense c.49 p.Q17E 0.834 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 91 27 22.69 133 0 0.00 ZNF781 163115 genome.wustl.edu 37 19 38160922 38160922 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 38160922 38160922 C G SNP ZNF781 ENST00000358582 human ensembl 70_37 -1 known missense c.128 p.R43T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 44 8 15.38 76 0 0.00 ZNF782 158431 genome.wustl.edu 37 9 99580528 99580528 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 99580528 99580528 C G SNP ZNF782 ENST00000481138 human ensembl 70_37 -1 known missense c.1777 p.E593Q 0.374 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF782 HGNC ENSG00000196597 60 20 25.00 50 0 0.00 ZNF783 100289678 genome.wustl.edu 37 7 148964012 148964012 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 148964012 148964012 A G SNP ZNF783 ENST00000434415 human ensembl 70_37 +1 known missense c.523 p.N175D 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 69 11 13.75 80 0 0.00 ZNF784 147808 genome.wustl.edu 37 19 56133131 56133131 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56133131 56133131 C G SNP ZNF784 ENST00000325351 human ensembl 70_37 -1 known missense c.958 p.E320Q 0.368 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 15 10 40.00 18 0 0.00 ZNF784 147808 genome.wustl.edu 37 19 56133145 56133145 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 56133145 56133145 G T SNP ZNF784 ENST00000325351 human ensembl 70_37 -1 known missense c.944 p.A315E 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 86 41 32.28 50 0 0.00 ZNF785 146540 genome.wustl.edu 37 16 30594342 30594342 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30594342 30594342 C T SNP ZNF785 ENST00000395216 human ensembl 70_37 -1 known missense c.757 p.E253K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ENSG00000197162 46 15 24.19 65 0 0.00 ZNF785 146540 genome.wustl.edu 37 16 30596840 30596840 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30596840 30596840 G T SNP ZNF785 ENST00000395216 human ensembl 70_37 -1 known missense c.93 p.F31L 0.323 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ENSG00000197162 20 8 28.57 23 0 0.00 ZNF786 136051 genome.wustl.edu 37 7 148768366 148768366 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 148768366 148768366 G A SNP ZNF786 ENST00000491431 human ensembl 70_37 -1 known missense c.1498 p.R500W 0.577 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 18 10 35.71 60 0 0.00 ZNF786 136051 genome.wustl.edu 37 7 148768956 148768956 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 148768956 148768956 T A SNP ZNF786 ENST00000491431 human ensembl 70_37 -1 known missense c.908 p.K303M 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 16 14 46.67 53 0 0.00 ZNF787 126208 genome.wustl.edu 37 19 56599962 56599962 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 56599962 56599962 G A SNP ZNF787 ENST00000270459 human ensembl 70_37 -1 known silent c.579 p.L193 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 4 11 73.33 19 0 0.00 ZNF787 126208 genome.wustl.edu 37 19 56614301 56614301 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 56614301 56614301 G A SNP ZNF787 ENST00000587279 human ensembl 70_37 -1 putative silent c.286 p.L96 0.000 NULL NULL - no_errors ZNF787 HGNC ENSG00000142409 63 11 14.86 86 0 0.00 ZNF788 388507 genome.wustl.edu 37 19 12210589 12210589 + RNA SNP A A G TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70e4fbc8-094d-4493-8bf3-d28395d721e1 f3d88d4e-4ef1-496b-bc30-4566c3d4de72 19 12210589 12210589 A G SNP ZNF788 ENST00000397755 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors ZNF788 HGNC ENSG00000214189 19 21 52.50 29 0 0.00 ZNF79 7633 genome.wustl.edu 37 9 130207191 130207191 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 130207191 130207191 C T SNP ZNF79 ENST00000342483 human ensembl 70_37 +1 known silent c.1212 p.L404 0.288 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 34 12 26.09 36 0 0.00 ZNF79 7633 genome.wustl.edu 37 9 130207191 130207191 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 9 130207191 130207191 C T SNP ZNF79 ENST00000342483 human ensembl 70_37 +1 known silent c.1212 p.L404 0.288 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 88 29 24.79 81 0 0.00 ZNF790 388536 genome.wustl.edu 37 19 37310175 37310175 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 37310175 37310175 C G SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.1071 p.Q357H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 24 16 40.00 50 0 0.00 ZNF790 388536 genome.wustl.edu 37 19 37310810 37310810 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 37310810 37310810 C T SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.436 p.E146K 0.189 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 15 13 46.43 43 0 0.00 ZNF790 388536 genome.wustl.edu 37 19 37314690 37314690 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 37314690 37314690 C G SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.12 p.L4F 0.037 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 40 12 23.08 58 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12734618 12734619 + Frame_Shift_Ins INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 12734618 12734619 - T INS ZNF791 ENST00000343325 human ensembl 70_37 +1 known frame_shift_ins c.108_109 p.K37fs 0.638:0.608 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 37 41 52.56 71 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12738878 12738878 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 12738878 12738878 G A SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.535 p.E179K 0.980 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 95 51 34.93 69 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12739121 12739121 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 12739121 12739121 C G SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.778 p.L260V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 27 14 34.15 44 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12739205 12739205 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12739205 12739205 C T SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known nonsense c.862 p.R288* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 18 14 43.75 20 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12739990 12739990 + Silent SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 12739990 12739990 G A SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known silent c.1647 p.E549 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 16 4 20.00 24 0 0.00 ZNF791 163049 genome.wustl.edu 37 19 12740056 12740056 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 12740056 12740056 G C SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.1713 p.M571I 0.931 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 68 39 36.45 165 0 0.00 ZNF793 390927 genome.wustl.edu 37 19 38024296 38024296 + Missense_Mutation SNP C C T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 259fea6c-0386-431c-8735-27ba978a28ee 0b319d95-644c-4b1b-8e96-36f215a5732d 19 38024296 38024296 C T SNP ZNF793 ENST00000445217 human ensembl 70_37 +1 known missense c.229 p.H77Y 0.953 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 59 28 32.18 111 0 0.00 ZNF793 390927 genome.wustl.edu 37 19 38024380 38024380 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 38024380 38024380 C G SNP ZNF793 ENST00000587986 human ensembl 70_37 +1 putative missense c.313 p.L105V 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 85 12 12.37 84 0 0.00 ZNF793 390927 genome.wustl.edu 37 19 38028578 38028578 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38028578 38028578 C T SNP ZNF793 ENST00000445217 human ensembl 70_37 +1 known missense c.1018 p.R340C 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 64 14 17.95 44 0 0.00 ZNF799 90576 genome.wustl.edu 37 19 12502496 12502496 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 12502496 12502496 G T SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known missense c.716 p.S239Y 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 62 7 10.14 114 0 0.00 ZNF799 90576 genome.wustl.edu 37 19 12502748 12502748 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 12502748 12502748 G C SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known nonsense c.464 p.S155* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 111 25 18.38 120 0 0.00 ZNF799 90576 genome.wustl.edu 37 19 12502923 12502923 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 12502923 12502923 G A SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known missense c.289 p.L97F 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 28 17 37.78 63 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58797541 58797541 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 58797541 58797541 G T SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known nonsense c.259 p.E87* 0.110 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 35 6 14.63 60 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58805481 58805481 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58805481 58805481 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 38 44 53.01 62 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58805598 58805598 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 58805598 58805598 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.424 p.E142Q 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 24 14 36.84 32 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58806467 58806467 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 58806467 58806467 G A SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known silent c.1293 p.L431 0.508 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 133 84 38.71 227 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58806608 58806608 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58806608 58806608 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1434 p.Q478H 0.967 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 36 10 21.74 50 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58806708 58806708 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58806708 58806708 C G SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1534 p.L512V 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 21 17 44.74 47 0 0.00 ZNF8 7554 genome.wustl.edu 37 19 58806852 58806852 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 58806852 58806852 G A SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1678 p.E560K 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 23 10 30.30 40 0 0.00 ZNF80 7634 genome.wustl.edu 37 3 113955149 113955149 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113955149 113955149 G A SNP ZNF80 ENST00000308095 human ensembl 70_37 -1 known missense c.773 p.S258F 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 42 16 27.59 54 0 0.00 ZNF80 7634 genome.wustl.edu 37 3 113955471 113955471 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 113955471 113955471 G A SNP ZNF80 ENST00000308095 human ensembl 70_37 -1 known missense c.451 p.H151Y 0.580 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 19 8 29.63 48 0 0.00 ZNF800 168850 genome.wustl.edu 37 7 127014255 127014255 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 7 127014255 127014255 G C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known missense c.1135 p.Q379E 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 5 4 44.44 14 0 0.00 ZNF800 168850 genome.wustl.edu 37 7 127014880 127014880 + Missense_Mutation SNP T T C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 127014880 127014880 T C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known missense c.510 p.I170M 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 13 16 55.17 16 0 0.00 ZNF800 168850 genome.wustl.edu 37 7 127014976 127014976 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 127014976 127014976 A C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known silent c.414 p.T138 0.711 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 13 12 48.00 27 0 0.00 ZNF804A 91752 genome.wustl.edu 37 2 185800685 185800685 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 185800685 185800685 G A SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.562 p.E188K 0.997 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 13 3 18.75 28 0 0.00 ZNF804A 91752 genome.wustl.edu 37 2 185802173 185802173 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 185802173 185802173 T G SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.2050 p.Y684D 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 14 3 17.65 32 0 0.00 ZNF804A 91752 genome.wustl.edu 37 2 185803649 185803649 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 185803649 185803649 G A SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.3526 p.V1176I 0.105 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 17 11 39.29 31 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88962775 88962775 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 88962775 88962775 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.479 p.S160L 0.005 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 9 8 47.06 14 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88962847 88962847 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 88962847 88962847 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.551 p.T184I 0.007 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 7 5 41.67 26 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88962994 88962994 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 88962994 88962994 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.698 p.S233F 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 25 3 10.71 28 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88964154 88964154 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 7 88964154 88964154 G A SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.1858 p.D620N 0.003 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 27 4 12.12 26 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88964910 88964910 + Nonsense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 88964910 88964910 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.2614 p.Q872* 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 24 17 41.46 31 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88965996 88965996 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 88965996 88965996 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.3700 p.H1234Y 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 64 50 43.86 175 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88966146 88966146 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 88966146 88966146 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.3850 p.Q1284* 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 47 44 48.35 154 0 0.00 ZNF804B 219578 genome.wustl.edu 37 7 88966314 88966314 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 88966314 88966314 G T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.4018 p.E1340* 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 20 7 25.93 22 0 0.00 ZNF805 390980 genome.wustl.edu 37 19 57764449 57764449 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 57764449 57764449 G C SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known missense c.262 p.G88R 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ENSG00000204524 34 21 38.18 33 0 0.00 ZNF805 390980 genome.wustl.edu 37 19 57764604 57764604 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 57764604 57764604 G A SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known silent c.417 p.L139 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ENSG00000204524 12 5 29.41 38 0 0.00 ZNF805 390980 genome.wustl.edu 37 19 57765301 57765301 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57765301 57765301 G A SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.914 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ENSG00000204524 84 30 26.32 70 0 0.00 ZNF808 388558 genome.wustl.edu 37 19 53056534 53056534 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53056534 53056534 G A SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.365 p.R122K 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 107 14 11.57 88 0 0.00 ZNF808 388558 genome.wustl.edu 37 19 53057628 53057628 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53057628 53057628 G C SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1459 p.E487Q 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 111 26 18.84 124 0 0.00 ZNF808 388558 genome.wustl.edu 37 19 53057628 53057628 + Missense_Mutation SNP G G C TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fbd78148-6bfc-4713-b46d-3a4785e01590 029ff7f2-694b-410e-a81d-f5a32151b495 19 53057628 53057628 G C SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1459 p.E487Q 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 39 14 26.42 28 0 0.00 ZNF808 388558 genome.wustl.edu 37 19 53057757 53057757 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 53057757 53057757 C T SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1588 p.R530C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 41 21 33.87 96 0 0.00 ZNF808 388558 genome.wustl.edu 37 19 53058742 53058742 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 53058742 53058742 G A SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.2573 p.R858H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 61 7 10.29 102 0 0.00 ZNF81 347344 genome.wustl.edu 37 X 47755252 47755252 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 47755252 47755252 G T SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.190 p.V64F 0.699 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 21 4 16.00 98 0 0.00 ZNF81 347344 genome.wustl.edu 37 X 47755275 47755275 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47755275 47755275 C G SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.213 p.F71L 0.998 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 67 22 24.72 84 0 0.00 ZNF81 347344 genome.wustl.edu 37 X 47774737 47774737 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 47774737 47774737 C A SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.692 p.S231Y 0.041 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 145 37 20.33 147 0 0.00 ZNF81 347344 genome.wustl.edu 37 X 47775374 47775374 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b X 47775374 47775374 C T SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known silent c.1329 p.I443 0.168 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 50 18 26.47 57 0 0.00 ZNF812 729648 genome.wustl.edu 37 19 9800869 9800869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9800869 9800869 C A SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known missense c.1310 p.R437I 0.955 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 9 6 40.00 22 0 0.00 ZNF812 729648 genome.wustl.edu 37 19 9800928 9800928 + Silent SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 9800928 9800928 G T SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known silent c.1251 p.L417 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 25 23 47.92 40 0 0.00 ZNF812 729648 genome.wustl.edu 37 19 9801621 9801621 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 9801621 9801621 G A SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known silent c.558 p.I186 0.116 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 20 13 39.39 49 0 0.00 ZNF813 126017 genome.wustl.edu 37 19 53993829 53993829 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 53993829 53993829 G A SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known missense c.343 p.E115K 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 158 30 15.96 97 0 0.00 ZNF813 126017 genome.wustl.edu 37 19 53993928 53993928 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 53993928 53993928 C G SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known missense c.442 p.L148V 0.327 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 100 16 13.68 107 0 0.00 ZNF813 126017 genome.wustl.edu 37 19 53993928 53993928 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 53993928 53993928 C T SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known silent c.442 p.L148 0.327 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 38 60 61.22 85 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384313 58384313 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 19 58384313 58384313 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.2445 p.L815 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 77 15 16.30 77 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384363 58384363 + Missense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36599ace-d4cd-4bd1-a917-76ec50563e9e d940ce39-b17e-4275-baf2-7e6253bb92db 19 58384363 58384363 G T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2395 p.P799T 0.969 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 79 25 23.81 89 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384594 58384594 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384594 58384594 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known nonsense c.2164 p.Q722* 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 37 10 21.28 28 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384594 58384594 + Nonsense_Mutation SNP G G A TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384594 58384594 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known nonsense c.2164 p.Q722* 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 57 27 32.14 28 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384729 58384729 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384729 58384729 G C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2029 p.L677V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 33 5 13.16 20 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384729 58384729 + Missense_Mutation SNP G G C TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58384729 58384729 G C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.2029 p.L677V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 76 23 23.23 28 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384949 58384949 + Silent SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58384949 58384949 A T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.1809 p.P603 0.312 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 22 16 42.11 59 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58384994 58384994 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 58384994 58384994 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.1764 p.I588 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 50 20 28.57 40 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58385022 58385022 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58385022 58385022 C T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1736 p.G579E 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 55 17 23.61 73 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58385050 58385050 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58385050 58385050 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1708 p.H570Y 0.988 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 34 6 15.00 53 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58385113 58385113 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 58385113 58385113 C G SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1645 p.E549Q 0.124 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 64 12 15.79 20 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58385818 58385818 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58385818 58385818 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.940 p.H314Y 0.013 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 59 12 16.90 75 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58385873 58385873 + Silent SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 58385873 58385873 T C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.885 p.K295 0.002 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 20 8 28.57 26 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58400174 58400174 + RNA SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58400174 58400174 A G SNP ZNF814 ENST00000594629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF814 HGNC ENSG00000204514 120 46 27.71 86 0 0.00 ZNF814 730051 genome.wustl.edu 37 19 58400325 58400325 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 58400325 58400325 C T SNP ZNF814 ENST00000594629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF814 HGNC ENSG00000204514 9 15 62.50 30 0 0.00 ZNF815P 401303 genome.wustl.edu 37 7 5887178 5887178 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 5887178 5887178 C T SNP ZNF815P ENST00000422825 human ensembl 70_37 +1 known rna NULL NULL 0.980 - - - no_errors ZNF815P HGNC ENSG00000235944 14 18 56.25 52 0 0.00 ZNF816 125893 genome.wustl.edu 37 19 53453422 53453422 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53453422 53453422 G T SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known missense c.1606 p.P536T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 27 10 26.32 69 0 0.00 ZNF816 125893 genome.wustl.edu 37 19 53453865 53453865 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53453865 53453865 T C SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known missense c.1163 p.H388R 0.274 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 27 5 15.62 61 0 0.00 ZNF816 125893 genome.wustl.edu 37 19 53454323 53454323 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 53454323 53454323 G C SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known silent c.705 p.G235 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 45 5 10.00 58 0 0.00 ZNF816-ZNF321P 100529240 genome.wustl.edu 37 19 53431657 53431657 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53431657 53431657 C G SNP ZNF816-ZNF321P ENST00000313956 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors ZNF816-ZNF321P HGNC ENSG00000213801 23 6 20.69 22 0 0.00 ZNF816-ZNF321P 100529240 genome.wustl.edu 37 19 53431737 53431737 + RNA SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 53431737 53431737 C T SNP ZNF816-ZNF321P ENST00000313956 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ZNF816-ZNF321P HGNC ENSG00000213801 50 10 16.67 78 0 0.00 ZNF821 55565 genome.wustl.edu 37 16 71898131 71898131 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 71898131 71898131 C G SNP ZNF821 ENST00000425432 human ensembl 70_37 -1 known missense c.327 p.L109F 0.942 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 22 10 31.25 50 0 0.00 ZNF826P 664701 genome.wustl.edu 37 19 20519792 20519792 + RNA SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 20519792 20519792 C T SNP ZNF826P ENST00000541160 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF826P HGNC ENSG00000231205 0 7 100.00 9 0 0.00 ZNF826P 664701 genome.wustl.edu 37 19 20607687 20607687 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 20607687 20607687 G C SNP ZNF826P ENST00000502675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF826P HGNC ENSG00000231205 19 7 26.92 46 0 0.00 ZNF827 152485 genome.wustl.edu 37 4 146791581 146791581 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 4 146791581 146791581 C T SNP ZNF827 ENST00000508784 human ensembl 70_37 -1 known silent c.1797 p.E599 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 89 14 13.59 82 0 0.00 ZNF827 152485 genome.wustl.edu 37 4 146806944 146806944 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 146806944 146806944 C T SNP ZNF827 ENST00000508784 human ensembl 70_37 -1 known missense c.1633 p.A545T 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 68 12 15.00 82 0 0.00 ZNF827 152485 genome.wustl.edu 37 4 146823874 146823874 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 4 146823874 146823874 C A SNP ZNF827 ENST00000508784 human ensembl 70_37 -1 known missense c.537 p.Q179H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 43 5 10.42 57 0 0.00 ZNF829 374899 genome.wustl.edu 37 19 37382767 37382767 + Nonsense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 37382767 37382767 G C SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.1169 p.S390* 0.016 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 74 11 12.94 48 0 0.00 ZNF829 374899 genome.wustl.edu 37 19 37382909 37382909 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 37382909 37382909 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known missense c.1027 p.H343Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 45 17 27.42 29 0 0.00 ZNF829 374899 genome.wustl.edu 37 19 37383008 37383008 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 37383008 37383008 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.029 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 93 15 13.76 97 0 0.00 ZNF829 374899 genome.wustl.edu 37 19 37399292 37399292 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 37399292 37399292 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.409 p.Q137* 0.976 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 25 17 40.48 44 0 0.00 ZNF829 374899 genome.wustl.edu 37 19 37406814 37406814 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 37406814 37406814 C T SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known missense c.43 p.G15R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 46 9 16.36 59 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53116855 53116855 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116855 53116855 C T SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known silent c.963 p.E321 0.415 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 36 7 16.28 27 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53116856 53116856 + Missense_Mutation SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116856 53116856 T A SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.962 p.E321V 0.418 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 36 7 16.28 27 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53116865 53116865 + Missense_Mutation SNP T T C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116865 53116865 T C SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.953 p.K318R 0.056 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 35 7 16.67 27 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53116876 53116876 + Missense_Mutation SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42d4699b-a0e7-4c81-b448-b8e02138f580 29e619b2-5155-4649-a52d-77e996ddeaf4 19 53116876 53116876 C G SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.942 p.E314D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 63 24 27.59 47 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53117017 53117017 + Splice_Site SNP T T G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 53117017 53117017 T G SNP ZNF83 ENST00000434535 human ensembl 70_37 -1 known splice_site c.799+2 e1+2 0.946 - - - no_errors ZNF83 HGNC ENSG00000167766 25 8 24.24 27 0 0.00 ZNF83 55769 genome.wustl.edu 37 19 53117245 53117245 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 53117245 53117245 G T SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.573 p.H191Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 46 23 33.33 56 0 0.00 ZNF830 91603 genome.wustl.edu 37 17 33288808 33288808 + Missense_Mutation SNP C C T TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 17 33288808 33288808 C T SNP ZNF830 ENST00000361952 human ensembl 70_37 +1 known missense c.223 p.H75Y 1.000 smart_Znf_U1 smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 111 26 18.98 114 0 0.00 ZNF830 91603 genome.wustl.edu 37 17 33288933 33288933 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 33288933 33288933 G A SNP ZNF830 ENST00000361952 human ensembl 70_37 +1 known silent c.348 p.A116 0.909 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 30 16 34.78 49 0 0.00 ZNF830 91603 genome.wustl.edu 37 17 33289069 33289069 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 33289069 33289069 G C SNP ZNF830 ENST00000361952 human ensembl 70_37 +1 known missense c.484 p.E162Q 1.000 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 18 13 39.39 28 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57766154 57766154 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 57766154 57766154 C G SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.80 p.P27R 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 42 32 43.24 80 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57767394 57767394 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 57767394 57767394 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.1320 p.I440 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 41 24 36.92 65 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57768813 57768813 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 57768813 57768813 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.2739 p.P913 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 77 22 22.22 102 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57768903 57768903 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768903 57768903 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.2829 p.L943 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 57 17 22.97 52 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57768913 57768913 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768913 57768913 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel nonsense c.2839 p.Q947* 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 54 15 21.74 54 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57768971 57768971 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768971 57768971 C G SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.2897 p.S966C 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 38 13 25.49 38 0 0.00 ZNF831 128611 genome.wustl.edu 37 20 57769075 57769075 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 57769075 57769075 G T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.3001 p.A1001S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 29 4 12.12 31 0 0.00 ZNF833P 401898 genome.wustl.edu 37 19 11762773 11762773 + RNA SNP A A C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11762773 11762773 A C SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.800 - - - no_errors ZNF833P HGNC ENSG00000197332 28 19 40.43 48 0 0.00 ZNF833P 401898 genome.wustl.edu 37 19 11796196 11796196 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 11796196 11796196 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF833P HGNC ENSG00000197332 14 4 22.22 46 0 0.00 ZNF833P 401898 genome.wustl.edu 37 19 11796725 11796725 + RNA SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 11796725 11796725 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors ZNF833P HGNC ENSG00000197332 37 5 11.90 39 0 0.00 ZNF833P 401898 genome.wustl.edu 37 19 11797029 11797029 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 11797029 11797029 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF833P HGNC ENSG00000197332 11 15 57.69 39 0 0.00 ZNF835 90485 genome.wustl.edu 37 19 57175591 57175591 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 57175591 57175591 G A SNP ZNF835 ENST00000537055 human ensembl 70_37 -1 known missense c.976 p.R326C 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 57 8 12.31 74 0 0.00 ZNF836 162962 genome.wustl.edu 37 19 52658907 52658907 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52658907 52658907 G C SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.2029 p.Q677E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 27 17 38.64 40 0 0.00 ZNF836 162962 genome.wustl.edu 37 19 52659404 52659404 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 19 52659404 52659404 G A SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.1532 p.S511L 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 42 9 17.65 53 0 0.00 ZNF836 162962 genome.wustl.edu 37 19 52659714 52659714 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52659714 52659714 G A SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.1222 p.H408Y 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 48 43 47.25 72 0 0.00 ZNF836 162962 genome.wustl.edu 37 19 52660227 52660227 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 52660227 52660227 G C SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.709 p.Q237E 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 7 30 81.08 58 0 0.00 ZNF839 55778 genome.wustl.edu 37 14 102793113 102793113 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 102793113 102793113 G A SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known silent c.1080 p.T360 0.002 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 27 25 47.17 46 0 0.00 ZNF839 55778 genome.wustl.edu 37 14 102793113 102793113 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 102793113 102793113 G A SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known silent c.1080 p.T360 0.002 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 9 7 43.75 23 0 0.00 ZNF839 55778 genome.wustl.edu 37 14 102798158 102798158 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 102798158 102798158 C T SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known missense c.1391 p.S464L 0.001 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 20 10 33.33 41 0 0.00 ZNF839 55778 genome.wustl.edu 37 14 102802038 102802038 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 102802038 102802038 C T SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known missense c.1522 p.H508Y 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 70 29 29.29 101 0 0.00 ZNF841 284371 genome.wustl.edu 37 19 52568470 52568470 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52568470 52568470 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.2665 p.R889C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 85 13 13.27 77 0 0.00 ZNF841 284371 genome.wustl.edu 37 19 52569558 52569558 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 52569558 52569558 G C SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known nonsense c.1577 p.S526* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 34 9 20.93 33 0 0.00 ZNF841 284371 genome.wustl.edu 37 19 52569670 52569670 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 52569670 52569670 C T SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 44 6 12.00 47 0 0.00 ZNF841 284371 genome.wustl.edu 37 19 52569952 52569952 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 52569952 52569952 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known missense c.1183 p.H395Y 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 49 26 34.67 55 0 0.00 ZNF841 284371 genome.wustl.edu 37 19 52579301 52579301 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 52579301 52579301 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known silent c.267 p.I89 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 62 13 17.33 83 0 0.00 ZNF843 283933 genome.wustl.edu 37 16 31447140 31447140 + Missense_Mutation SNP T T C TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83db6019-579d-4875-a935-6878ed5119e2 9fa979c3-9393-464e-a0b4-56b84ddfca32 16 31447140 31447140 T C SNP ZNF843 ENST00000315678 human ensembl 70_37 -1 known missense c.1031 p.N344S 0.449 NULL pfscan_Znf_C2H2 - no_errors ZNF843 HGNC ENSG00000176723 5 4 44.44 10 0 0.00 ZNF845 91664 genome.wustl.edu 37 19 53854421 53854421 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53854421 53854421 G C SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known missense c.493 p.E165Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 42 23 35.38 82 0 0.00 ZNF845 91664 genome.wustl.edu 37 19 53855360 53855360 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53855360 53855360 C G SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known missense c.1432 p.Q478E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 48 10 17.24 21 0 0.00 ZNF845 91664 genome.wustl.edu 37 19 53855572 53855572 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 53855572 53855572 G A SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known silent c.1644 p.E548 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 70 16 18.60 83 0 0.00 ZNF846 162993 genome.wustl.edu 37 19 9868423 9868423 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 9868423 9868423 G C SNP ZNF846 ENST00000397902 human ensembl 70_37 -1 known missense c.1330 p.H444D 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 53 44 45.36 133 0 0.00 ZNF85 7639 genome.wustl.edu 37 19 21117813 21117813 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 21117813 21117813 G C SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.189 p.W63C 0.013 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 13 6 31.58 29 0 0.00 ZNF85 7639 genome.wustl.edu 37 19 21131586 21131586 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21131586 21131586 A G SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.266 p.E89G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 42 5 10.64 61 0 0.00 ZNF85 7639 genome.wustl.edu 37 19 21131718 21131718 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 21131718 21131718 G A SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.398 p.G133E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 108 49 31.21 120 0 0.00 ZNF85 7639 genome.wustl.edu 37 19 21132636 21132636 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 21132636 21132636 C T SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.1316 p.S439L 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 16 11 40.74 42 0 0.00 ZNF850 342892 genome.wustl.edu 37 19 37238866 37238866 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37238866 37238866 G C SNP ZNF850 ENST00000591344 human ensembl 70_37 -1 known missense c.3076 p.Q1026E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 62 14 18.42 45 0 0.00 ZNF850 342892 genome.wustl.edu 37 19 37239538 37239538 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37239538 37239538 G A SNP ZNF850 ENST00000591344 human ensembl 70_37 -1 known nonsense c.2404 p.Q802* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 55 18 24.66 61 0 0.00 ZNF852 285346 genome.wustl.edu 37 3 44540772 44540772 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 44540772 44540772 C G SNP ZNF852 ENST00000436261 human ensembl 70_37 -1 known missense c.1497 p.L499F 0.919 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ENSG00000178917 22 56 71.79 78 0 0.00 ZNF852 285346 genome.wustl.edu 37 3 44541845 44541845 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 44541845 44541845 G A SNP ZNF852 ENST00000436261 human ensembl 70_37 -1 known silent c.424 p.L142 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ENSG00000178917 55 16 22.54 66 0 0.00 ZNF860 344787 genome.wustl.edu 37 3 32030784 32030784 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 32030784 32030784 G A SNP ZNF860 ENST00000360311 human ensembl 70_37 +1 known missense c.213 p.M71I 0.090 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 110 49 30.82 146 0 0.00 ZNF860 344787 genome.wustl.edu 37 3 32030845 32030845 + Missense_Mutation SNP C C A TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 3 32030845 32030845 C A SNP ZNF860 ENST00000360311 human ensembl 70_37 +1 known missense c.274 p.H92N 0.995 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 37 16 30.19 102 0 0.00 ZNF862 643641 genome.wustl.edu 37 7 149557788 149557788 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 149557788 149557788 G A SNP ZNF862 ENST00000223210 human ensembl 70_37 +1 known silent c.1539 p.V513 1.000 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 65 35 34.65 86 0 0.00 ZNF862 643641 genome.wustl.edu 37 7 149557897 149557897 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 149557897 149557897 G A SNP ZNF862 ENST00000223210 human ensembl 70_37 +1 known missense c.1648 p.D550N 0.993 NULL pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 7 8 53.33 20 0 0.00 ZNF865 100507290 genome.wustl.edu 37 19 56125542 56125542 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56125542 56125542 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel silent c.558 p.P186 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 12 8 40.00 18 0 0.00 ZNF865 100507290 genome.wustl.edu 37 19 56125592 56125592 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 56125592 56125592 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel missense c.608 p.C203Y 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 47 22 31.88 27 0 0.00 ZNF865 100507290 genome.wustl.edu 37 19 56126747 56126747 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 19 56126747 56126747 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel missense c.1763 p.R588H 0.770 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 66 17 20.48 78 0 0.00 ZNF865 100507290 genome.wustl.edu 37 19 56126826 56126826 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 56126826 56126826 C G SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel silent c.1842 p.V614 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 11 9 45.00 24 0 0.00 ZNF865 100507290 genome.wustl.edu 37 19 56127433 56127433 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 56127433 56127433 C T SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel nonsense c.2449 p.R817* 0.894 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 4 4 50.00 11 0 0.00 ZNF876P 642280 genome.wustl.edu 37 4 247375 247375 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 247375 247375 C T SNP ZNF876P ENST00000356347 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF876P HGNC ENSG00000198155 21 7 25.00 45 0 0.00 ZNF876P 642280 genome.wustl.edu 37 4 247422 247422 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 247422 247422 G A SNP ZNF876P ENST00000356347 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF876P HGNC ENSG00000198155 28 7 20.00 34 0 0.00 ZNF876P 642280 genome.wustl.edu 37 4 248428 248428 + RNA SNP G G T TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f32f039-8e0a-47d1-b4c2-b5851689b030 51e9d5d1-a9e9-4e3b-ab09-b2621e159d87 4 248428 248428 G T SNP ZNF876P ENST00000356347 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF876P HGNC ENSG00000198155 24 3 11.11 40 0 0.00 ZNF878 729747 genome.wustl.edu 37 19 12155223 12155223 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 12155223 12155223 C T SNP ZNF878 ENST00000602107 human ensembl 70_37 -1 known silent c.1134 p.K378 0.020 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 102 37 26.62 136 0 0.00 ZNF878 729747 genome.wustl.edu 37 19 12155702 12155702 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12155702 12155702 C T SNP ZNF878 ENST00000602107 human ensembl 70_37 -1 known missense c.655 p.E219K 0.131 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 69 11 13.75 79 0 0.00 ZNF879 345462 genome.wustl.edu 37 5 178459886 178459886 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 178459886 178459886 G A SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF879 HGNC ENSG00000234284 39 15 27.78 40 0 0.00 ZNF879 345462 genome.wustl.edu 37 5 178460262 178460262 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 178460262 178460262 C G SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known missense c.1313 p.S438C 0.045 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF879 HGNC ENSG00000234284 12 7 36.84 21 0 0.00 ZNF879 345462 genome.wustl.edu 37 5 178460428 178460428 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 178460428 178460428 C T SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known silent c.1479 p.F493 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF879 HGNC ENSG00000234284 18 15 45.45 45 0 0.00 ZNF880 400713 genome.wustl.edu 37 19 52887111 52887111 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 52887111 52887111 C T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.278 p.S93F 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 28 11 28.21 36 0 0.00 ZNF880 400713 genome.wustl.edu 37 19 52887236 52887236 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52887236 52887236 G A SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.403 p.E135K 0.009 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 10 6 37.50 31 0 0.00 ZNF880 400713 genome.wustl.edu 37 19 52887528 52887528 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 52887528 52887528 G T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.695 p.R232I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 27 11 28.95 51 0 0.00 ZNF880 400713 genome.wustl.edu 37 19 52888452 52888452 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52888452 52888452 G T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.1619 p.R540I 0.709 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 13 9 40.91 26 0 0.00 ZNF883 169834 genome.wustl.edu 37 9 115759798 115759798 + RNA SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 9 115759798 115759798 G A SNP ZNF883 ENST00000427548 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF883 HGNC ENSG00000228623 26 9 25.71 28 0 0.00 ZNF883 169834 genome.wustl.edu 37 9 115760342 115760342 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 115760342 115760342 C G SNP ZNF883 ENST00000427548 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF883 HGNC ENSG00000228623 27 12 30.77 48 0 0.00 ZNF890P 645700 genome.wustl.edu 37 7 5167329 5167329 + RNA SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 7 5167329 5167329 C G SNP ZNF890P ENST00000422060 human ensembl 70_37 -1 known rna NULL NULL 0.807 - - - no_errors ZNF890P HGNC ENSG00000159904 42 11 20.75 63 0 0.00 ZNF891 101060200 genome.wustl.edu 37 12 133697995 133697995 + Silent SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 12 133697995 133697995 T C SNP ZNF891 ENST00000397313 human ensembl 70_37 -1 known silent c.510 p.G170 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF891 HGNC ENSG00000214029 23 4 14.81 31 0 0.00 ZNF891 101060200 genome.wustl.edu 37 12 133698315 133698315 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 133698315 133698315 G T SNP ZNF891 ENST00000397313 human ensembl 70_37 -1 known missense c.190 p.Q64K 0.388 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF891 HGNC ENSG00000214029 33 4 10.81 29 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20228640 20228640 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 20228640 20228640 G T SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.277 p.D93Y 0.020 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 35 23 39.66 104 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20228733 20228733 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20228733 20228733 A G SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.370 p.K124E 0.012 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 60 8 11.76 58 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20228749 20228749 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20228749 20228749 G T SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.386 p.G129V 0.017 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 62 8 11.43 63 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20229473 20229473 + Silent SNP G G A TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 20229473 20229473 G A SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known silent c.1110 p.K370 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 41 5 10.87 15 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20236288 20236288 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 20236288 20236288 C T SNP ZNF90 ENST00000474284 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 1 14 93.33 30 0 0.00 ZNF90 7643 genome.wustl.edu 37 19 20236288 20236288 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 20236288 20236288 C T SNP ZNF90 ENST00000474284 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 11 28 71.79 34 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23489882 23489882 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 23489882 23489882 C T SNP ZNF91 ENST00000596528 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors ZNF91 HGNC ENSG00000167232 34 12 26.09 28 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23542271 23542271 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9ee252b-040a-4066-ba74-a9927bcd3197 839cef74-9ae3-4b76-9b22-46281453831a 19 23542271 23542271 C T SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known silent c.3510 p.A1170 0.894 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 12 10 45.45 23 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23542574 23542574 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23542574 23542574 C G SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.3207 p.K1069N 0.174 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 40 21 34.43 34 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23543181 23543181 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23543181 23543181 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.2600 p.S867L 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 22 16 42.11 41 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23543184 23543184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 23543184 23543184 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.2597 p.S866F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 79 27 25.47 109 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23544220 23544220 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 23544220 23544220 C T SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1561 p.E521K 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 28 24 46.15 49 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23544415 23544415 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 23544415 23544415 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1366 p.H456Y 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 33 15 30.61 33 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23544483 23544483 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 23544483 23544483 G C SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1298 p.P433R 0.689 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 38 17 30.91 86 0 0.00 ZNF91 7644 genome.wustl.edu 37 19 23545029 23545029 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 23545029 23545029 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.752 p.S251L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 22 7 24.14 40 0 0.00 ZNF92 168374 genome.wustl.edu 37 7 64863368 64863368 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 64863368 64863368 G A SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.341 p.R114K 0.618 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 50 6 10.71 59 0 0.00 ZNF92 168374 genome.wustl.edu 37 7 64863490 64863490 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 64863490 64863490 C T SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.463 p.H155Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 21 25 54.35 22 0 0.00 ZNF92 168374 genome.wustl.edu 37 7 64864655 64864655 + Missense_Mutation SNP A A G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 64864655 64864655 A G SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.1628 p.D543G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 101 14 12.17 136 1 0.73 ZNF93 81931 genome.wustl.edu 37 19 20026190 20026190 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 20026190 20026190 G A SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known silent c.105 p.E35 0.924 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 104 14 11.86 86 0 0.00 ZNF93 81931 genome.wustl.edu 37 19 20044223 20044223 + Silent SNP C C G TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da3d48a2-3f68-4e10-9fee-03115d41e633 4da77a40-feeb-4eb9-8eb0-ac7e102e3814 19 20044223 20044223 C G SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known silent c.459 p.V153 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 47 13 21.67 47 0 0.00 ZNF93 81931 genome.wustl.edu 37 19 20044654 20044654 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 20044654 20044654 C A SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known missense c.890 p.S297Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 26 6 18.75 34 0 0.00 ZNF98 148198 genome.wustl.edu 37 19 22574445 22574445 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22574445 22574445 G T SNP ZNF98 ENST00000357774 human ensembl 70_37 -1 known missense c.1592 p.S531Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 20 10 33.33 41 0 0.00 ZNF98 148198 genome.wustl.edu 37 19 22585688 22585688 + Splice_Site SNP T T A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 19 22585688 22585688 T A SNP ZNF98 ENST00000357774 human ensembl 70_37 -1 known splice_site c.158-2 e3-2 0.741 - - - no_errors ZNF98 HGNC ENSG00000197360 86 25 22.52 142 0 0.00 ZNF98 148198 genome.wustl.edu 37 19 22715225 22715225 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 22715225 22715225 C T SNP ZNF98 ENST00000599879 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors ZNF98 HGNC ENSG00000197360 12 10 45.45 21 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22939111 22939111 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 22939111 22939111 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.3010 p.H1004Y 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 22 7 24.14 25 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22939155 22939155 + Missense_Mutation SNP T T A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 22939155 22939155 T A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.2966 p.K989I 0.215 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 20 6 23.08 30 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22939435 22939435 + Silent SNP C C T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e3aadb02-a271-47dd-b809-f85e52506c71 c507e1ee-91f4-4535-ac84-4f6c368b7448 19 22939435 22939435 C T SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known silent c.2736 p.G912 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 99 16 13.91 24 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22939472 22939472 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 22939472 22939472 A G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.2699 p.F900S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 18 9 33.33 21 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22940786 22940786 + Missense_Mutation SNP A A C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 22940786 22940786 A C SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.1652 p.I551S 0.862 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 19 13 40.62 14 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22941062 22941062 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 22941062 22941062 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.1376 p.S459L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 53 7 11.67 36 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22942226 22942226 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22942226 22942226 C G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.548 p.R183T 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 46 17 26.98 43 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22942310 22942310 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22942310 22942310 T C SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.464 p.N155S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 22 23 51.11 57 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22942361 22942361 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 22942361 22942361 C A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.413 p.C138F 0.505 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 69 12 14.81 60 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22951113 22951113 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 22951113 22951113 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.283 p.P95S 0.056 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 32 13 28.89 93 0 0.00 ZNF99 7652 genome.wustl.edu 37 19 22952025 22952025 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 22952025 22952025 C G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.168 p.E56D 0.081 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 24 18 42.86 57 0 0.00 ZNFX1 57169 genome.wustl.edu 37 20 47870271 47870271 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47870271 47870271 C G SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.3037 p.E1013Q 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 273 103 27.39 387 0 0.00 ZNFX1 57169 genome.wustl.edu 37 20 47871106 47871106 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 47871106 47871106 C G SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.2885 p.R962T 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 34 11 24.44 32 0 0.00 ZNFX1 57169 genome.wustl.edu 37 20 47872368 47872368 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 47872368 47872368 G A SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known silent c.2781 p.L927 0.990 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 30 12 28.57 36 0 0.00 ZNFX1 57169 genome.wustl.edu 37 20 47874075 47874075 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 47874075 47874075 C T SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.2543 p.R848Q 0.010 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 31 7 18.42 33 0 0.00 ZFAS1 441951 genome.wustl.edu 37 20 47895230 47895230 + RNA SNP G G C TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48 20 47895230 47895230 G C SNP ZNFX1-AS1 ENST00000326677 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNFX1-AS1 HGNC ENSG00000177410 22 10 31.25 10 0 0.00 ZFAS1 441951 genome.wustl.edu 37 20 47905722 47905722 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 20 47905722 47905722 C A SNP ZNFX1-AS1 ENST00000326677 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors ZNFX1-AS1 HGNC ENSG00000177410 46 34 41.98 32 0 0.00 ZNRD1 30834 genome.wustl.edu 37 6 30030070 30030070 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30030070 30030070 G T SNP ZNRD1 ENST00000332435 human ensembl 70_37 +1 known missense c.316 p.D106Y 0.996 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors ZNRD1 HGNC ENSG00000066379 46 14 23.33 60 0 0.00 ZNRD1-AS1 80862 genome.wustl.edu 37 6 30003625 30003625 + RNA SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 6 30003625 30003625 C T SNP ZNRD1-AS1 ENST00000421692 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 44 29 39.73 49 0 0.00 ZNRF1 84937 genome.wustl.edu 37 16 75033937 75033937 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 16 75033937 75033937 C T SNP ZNRF1 ENST00000320619 human ensembl 70_37 +1 known missense c.368 p.S123L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF1 HGNC ENSG00000186187 64 9 12.33 68 0 0.00 ZNRF2 223082 genome.wustl.edu 37 7 30402033 30402033 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 30402033 30402033 G C SNP ZNRF2 ENST00000323037 human ensembl 70_37 +1 known missense c.712 p.E238Q 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF2 HGNC ENSG00000180233 57 25 30.49 71 0 0.00 ZNRF3 84133 genome.wustl.edu 37 22 29446272 29446272 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 29446272 29446272 G A SNP ZNRF3 ENST00000544604 human ensembl 70_37 +1 known nonsense c.2103 p.W701* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 9 3 25.00 8 0 0.00 ZNRF4 148066 genome.wustl.edu 37 19 5455848 5455848 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 19 5455848 5455848 C T SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known silent c.346 p.L116 0.036 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 51 20 28.17 67 0 0.00 ZNRF4 148066 genome.wustl.edu 37 19 5456111 5456111 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5456111 5456111 G A SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known silent c.609 p.L203 0.001 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 84 13 13.40 96 0 0.00 ZNRF4 148066 genome.wustl.edu 37 19 5456144 5456144 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 5456144 5456144 G T SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known silent c.642 p.V214 0.037 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 20 21 51.22 48 0 0.00 ZNRF4 148066 genome.wustl.edu 37 19 5456482 5456482 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 5456482 5456482 G A SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known missense c.980 p.C327Y 0.993 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 68 8 10.53 65 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21210183 21210183 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 21210183 21210183 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.1928 p.A643V 0.695 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 15 3 16.67 37 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21215375 21215375 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 21215375 21215375 G T SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.948 p.F316L 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 39 24 38.10 69 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21215708 21215708 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 21215708 21215708 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known silent c.711 p.L237 0.970 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 16 11 40.74 30 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21218209 21218209 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 21218209 21218209 C T SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.433 p.E145K 0.001 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 31 11 26.19 51 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21218297 21218297 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 16 21218297 21218297 C G SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.345 p.Q115H 0.970 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 43 19 30.65 67 0 0.00 ZP2 7783 genome.wustl.edu 37 16 21221009 21221009 + Silent SNP G G A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 16 21221009 21221009 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known silent c.273 p.I91 0.002 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 42 33 44.00 95 0 0.00 ZP4 57829 genome.wustl.edu 37 1 238048827 238048827 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 238048827 238048827 G C SNP ZP4 ENST00000366570 human ensembl 70_37 -1 known missense c.1024 p.L342V 0.997 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 119 29 19.59 108 0 0.00 ZP4 57829 genome.wustl.edu 37 1 238053866 238053866 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 238053866 238053866 C T SNP ZP4 ENST00000366570 human ensembl 70_37 -1 known missense c.70 p.E24K 0.000 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 76 45 37.19 88 0 0.00 ZPBP 11055 genome.wustl.edu 37 7 50097646 50097646 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 50097646 50097646 G A SNP ZPBP ENST00000046087 human ensembl 70_37 -1 known silent c.426 p.L142 0.151 pfam_Sp38-bd,pfscan_Ig-like pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP HGNC ENSG00000042813 33 19 36.54 49 0 0.00 ZPBP2 124626 genome.wustl.edu 37 17 38024615 38024615 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 38024615 38024615 G A SNP ZPBP2 ENST00000348931 human ensembl 70_37 +1 known missense c.8 p.R3Q 1.000 NULL pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ENSG00000186075 58 23 28.40 90 0 0.00 ZPBP2 124626 genome.wustl.edu 37 17 38028610 38028610 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 38028610 38028610 G C SNP ZPBP2 ENST00000348931 human ensembl 70_37 +1 known missense c.494 p.R165T 0.968 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ENSG00000186075 28 8 22.22 31 0 0.00 ZPLD1 131368 genome.wustl.edu 37 3 102157389 102157389 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 102157389 102157389 C G SNP ZPLD1 ENST00000306176 human ensembl 70_37 +1 known missense c.106 p.Q36E 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ENSG00000170044 61 41 40.20 80 0 0.00 ZPLD1 131368 genome.wustl.edu 37 3 102183077 102183077 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 102183077 102183077 G C SNP ZPLD1 ENST00000306176 human ensembl 70_37 +1 known missense c.791 p.R264P 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ENSG00000170044 108 14 11.48 111 0 0.00 ZRANB1 54764 genome.wustl.edu 37 10 126673446 126673446 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 126673446 126673446 G A SNP ZRANB1 ENST00000359653 human ensembl 70_37 +1 known missense c.2012 p.R671Q 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 27 15 35.71 41 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71530062 71530062 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 71530062 71530062 C G SNP ZRANB2 ENST00000477096 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 4 4 50.00 20 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71535038 71535038 + Missense_Mutation SNP A A C TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8c0459ab-a4c1-470b-9548-f3ee12a7d7aa c8202693-7be4-42e2-92cc-0cb1899696e4 1 71535038 71535038 A C SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known missense c.691 p.S231A 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 15 5 25.00 86 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 25 4 13.79 70 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71542532 71542533 + Frame_Shift_Ins INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 71542532 71542533 - T INS ZRANB2 ENST00000370920 human ensembl 70_37 -1 known frame_shift_ins c.247_246 p.S82fs 1.000:1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 54 14 20.59 29 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71542534 71542534 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 71542534 71542534 C T SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known missense c.245 p.R82K 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 49 16 24.62 30 0 0.00 ZRANB2 9406 genome.wustl.edu 37 1 71544392 71544392 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 71544392 71544392 C T SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known splice_site c.57-1 e2-1 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 37 7 15.91 60 0 0.00 ZRANB3 84083 genome.wustl.edu 37 2 136071135 136071135 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 136071135 136071135 C T SNP ZRANB3 ENST00000264159 human ensembl 70_37 -1 known missense c.890 p.R297K 0.933 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 22 4 15.38 33 0 0.00 ZRSR1 7310 genome.wustl.edu 37 5 112228015 112228015 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 112228015 112228015 G T SNP ZRSR1 ENST00000391338 human ensembl 70_37 +1 known missense c.679 p.D227Y 0.999 smart_RRM_dom_euk,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 121 19 13.57 117 0 0.00 ZRSR2 8233 genome.wustl.edu 37 X 15818015 15818015 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 15818015 15818015 G A SNP ZRSR2 ENST00000307771 human ensembl 70_37 +1 known missense c.142 p.E48K 0.975 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR2 HGNC ENSG00000169249 87 40 31.50 89 0 0.00 ZSCAN1 284312 genome.wustl.edu 37 19 58564883 58564883 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58564883 58564883 G T SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known nonsense c.691 p.E231* 0.528 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 74 27 26.73 20 0 0.00 ZSCAN1 284312 genome.wustl.edu 37 19 58564883 58564883 + Nonsense_Mutation SNP G G T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24099828-5f1b-4004-b6ec-52eb184d7a54 358a6d54-df1e-4648-93eb-35175ae7c123 19 58564883 58564883 G T SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known nonsense c.691 p.E231* 0.528 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 96 31 24.41 53 0 0.00 ZSCAN1 284312 genome.wustl.edu 37 19 58565041 58565041 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58565041 58565041 G A SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known silent c.849 p.P283 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 50 25 33.33 77 0 0.00 ZSCAN1 284312 genome.wustl.edu 37 19 58565155 58565155 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58565155 58565155 G A SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known silent c.963 p.P321 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 111 39 26.00 138 0 0.00 ZSCAN10 84891 genome.wustl.edu 37 16 3140073 3140073 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 3140073 3140073 G A SNP ZSCAN10 ENST00000252463 human ensembl 70_37 -1 known silent c.1197 p.H399 0.181 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 32 8 20.00 25 0 0.00 ZSCAN10 84891 genome.wustl.edu 37 16 3140190 3140190 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 16 3140190 3140190 C G SNP ZSCAN10 ENST00000252463 human ensembl 70_37 -1 known missense c.1080 p.Q360H 0.914 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 24 14 36.84 14 0 0.00 ZSCAN12 9753 genome.wustl.edu 37 6 28358451 28358451 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 28358451 28358451 C A SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.1616 p.S539I 0.065 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 41 10 19.61 49 0 0.00 ZSCAN12 9753 genome.wustl.edu 37 6 28359508 28359508 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 28359508 28359508 C G SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.559 p.E187Q 0.858 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 13 12 48.00 36 0 0.00 ZSCAN12 9753 genome.wustl.edu 37 6 28366095 28366095 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 28366095 28366095 G T SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.88 p.Q30K 0.046 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 38 27 41.54 68 0 0.00 ZSCAN18 65982 genome.wustl.edu 37 19 58596127 58596127 + Silent SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7afa937c-7f6b-4956-949f-a31742f80ccc dacf14e9-c5e3-40ba-8ff7-50434efb1751 19 58596127 58596127 C T SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known silent c.1626 p.A542 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 20 5 20.00 29 0 0.00 ZSCAN18 65982 genome.wustl.edu 37 19 58596432 58596432 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 58596432 58596432 C T SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1321 p.V441I 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 10 9 47.37 22 0 0.00 ZSCAN18 65982 genome.wustl.edu 37 19 58596432 58596432 + Missense_Mutation SNP C C T TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a75ef01b-8448-4722-a6ae-de766b76c1d8 e5fd677c-5932-4462-b28b-f47c9c1b3935 19 58596432 58596432 C T SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1321 p.V441I 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 47 12 20.34 28 0 0.00 ZSCAN18 65982 genome.wustl.edu 37 19 58596539 58596539 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 58596539 58596539 G A SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1214 p.S405L 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 14 5 26.32 29 0 0.00 ZSCAN18 65982 genome.wustl.edu 37 19 58601751 58601751 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58601751 58601751 G A SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known silent c.52 p.L18 0.017 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 1 9 90.00 11 0 0.00 ZSCAN2 54993 genome.wustl.edu 37 15 85164941 85164941 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c14c1b6f-f669-4562-962e-943f192674a6 ae505e41-657f-4eb3-bdb1-61094063cad5 15 85164941 85164941 C T SNP ZSCAN2 ENST00000448803 human ensembl 70_37 +1 known silent c.1515 p.S505 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 34 4 10.53 31 0 0.00 ZSCAN2 54993 genome.wustl.edu 37 15 85165835 85165835 + Silent SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80d48e67-84ee-4674-ad3c-8fd52f9755a2 23c04bee-2928-4d86-9d31-0e46da21cb24 15 85165835 85165835 C T SNP ZSCAN2 ENST00000538076 human ensembl 70_37 +1 putative silent c.604 p.L202 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 87 29 25.00 76 0 0.00 ZSCAN20 7579 genome.wustl.edu 37 1 33960203 33960203 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 33960203 33960203 C G SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known silent c.2259 p.L753 0.122 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 32 13 28.89 64 0 0.00 ZSCAN20 7579 genome.wustl.edu 37 1 33960287 33960287 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33960287 33960287 C G SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known silent c.2343 p.L781 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 27 17 38.64 28 0 0.00 ZSCAN20 7579 genome.wustl.edu 37 1 33960712 33960712 + Missense_Mutation SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e61d3ec2-0e57-49d6-9def-db06fbd63f1a fe89a9c7-1d4e-4eb9-9240-ee45fedc26fe 1 33960712 33960712 G A SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known missense c.2768 p.R923H 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 25 3 10.71 24 0 0.00 ZSCAN21 7589 genome.wustl.edu 37 7 99661584 99661584 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 7 99661584 99661584 G C SNP ZSCAN21 ENST00000292450 human ensembl 70_37 +1 known missense c.766 p.E256Q 0.015 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 12 11 47.83 20 0 0.00 ZSCAN22 342945 genome.wustl.edu 37 19 58846467 58846467 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 19 58846467 58846467 C T SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known missense c.299 p.A100V 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 84 24 22.22 95 0 0.00 ZSCAN22 342945 genome.wustl.edu 37 19 58846567 58846567 + Missense_Mutation SNP G G C TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b6c8c42-616c-4135-82db-91575d2dda1d be8cbd23-c2ce-4c74-b0c8-6c307a8afeb5 19 58846567 58846567 G C SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known missense c.399 p.K133N 0.708 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 6 8 57.14 18 0 0.00 ZSCAN22 342945 genome.wustl.edu 37 19 58850041 58850041 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 58850041 58850041 G A SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known silent c.825 p.K275 0.121 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 14 11 44.00 30 0 0.00 ZSCAN22 342945 genome.wustl.edu 37 19 58850077 58850077 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 58850077 58850077 G C SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known missense c.861 p.Q287H 0.643 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 25 10 28.57 39 0 0.00 ZSCAN23 222696 genome.wustl.edu 37 6 28402379 28402379 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 28402379 28402379 G A SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.1033 p.R345C 0.041 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 45 21 31.82 65 0 0.00 ZSCAN23 222696 genome.wustl.edu 37 6 28403285 28403285 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 28403285 28403285 C T SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.508 p.E170K 0.766 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 45 10 18.18 23 0 0.00 ZSCAN23 222696 genome.wustl.edu 37 6 28403360 28403360 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 28403360 28403360 C T SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.433 p.E145K 0.832 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 12 7 36.84 22 0 0.00 ZSCAN29 146050 genome.wustl.edu 37 15 43658612 43658612 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43658612 43658612 C T SNP ZSCAN29 ENST00000396976 human ensembl 70_37 -1 known silent c.918 p.Q306 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 136 35 20.47 156 0 0.00 ZSCAN29 146050 genome.wustl.edu 37 15 43662089 43662089 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 43662089 43662089 C G SNP ZSCAN29 ENST00000396976 human ensembl 70_37 -1 known missense c.23 p.R8T 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 22 15 40.54 40 0 0.00 ZSCAN4 201516 genome.wustl.edu 37 19 58187558 58187558 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58187558 58187558 G A SNP ZSCAN4 ENST00000318203 human ensembl 70_37 +1 known silent c.45 p.E15 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 63 10 13.70 34 0 0.00 ZSCAN4 201516 genome.wustl.edu 37 19 58187617 58187617 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58187617 58187617 G A SNP ZSCAN4 ENST00000318203 human ensembl 70_37 +1 known missense c.104 p.R35K 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 70 20 22.22 46 0 0.00 ZSCAN5A 79149 genome.wustl.edu 37 19 56733133 56733133 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 56733133 56733133 G T SNP ZSCAN5A ENST00000391713 human ensembl 70_37 -1 known missense c.1302 p.H434Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 58 13 18.31 75 0 0.00 ZSCAN5A 79149 genome.wustl.edu 37 19 56733683 56733683 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 56733683 56733683 C G SNP ZSCAN5A ENST00000391713 human ensembl 70_37 -1 known missense c.752 p.R251T 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 130 56 30.11 231 0 0.00 ZSCAN5A 79149 genome.wustl.edu 37 19 56778130 56778130 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 56778130 56778130 G A SNP ZSCAN5A ENST00000586031 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors ZSCAN5A HGNC ENSG00000131848 32 17 34.69 17 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56701340 56701340 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56701340 56701340 G A SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.1344 p.F448 0.381 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 60 28 31.82 74 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56701805 56701805 + Silent SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 56701805 56701805 C G SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.879 p.L293 0.003 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 140 90 38.96 302 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56701869 56701869 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56701869 56701869 G C SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.815 p.S272C 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 89 28 23.93 138 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56702270 56702270 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 56702270 56702270 C T SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.675 p.L225 0.062 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 145 66 31.28 197 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56703294 56703294 + Missense_Mutation SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 56703294 56703294 C G SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.513 p.Q171H 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 12 7 36.84 28 0 0.00 ZSCAN5B 342933 genome.wustl.edu 37 19 56704223 56704223 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 56704223 56704223 C T SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.199 p.E67K 0.006 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 39 20 33.90 47 0 0.00 ZSCAN5C 649137 genome.wustl.edu 37 19 56720231 56720231 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 19 56720231 56720231 C T SNP ZSCAN5C ENST00000376267 human ensembl 70_37 +1 known nonsense c.1153 p.Q385* 0.076 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 43 27 38.57 54 0 0.00 ZSWIM1 90204 genome.wustl.edu 37 20 44512530 44512530 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 44512530 44512530 G C SNP ZSWIM1 ENST00000372520 human ensembl 70_37 +1 known missense c.1299 p.W433C 0.995 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 41 19 31.67 40 0 0.00 ZSWIM2 151112 genome.wustl.edu 37 2 187693277 187693277 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 021319d5-4f58-440f-a74b-e3a0159d35ec bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd 2 187693277 187693277 G C SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1336 p.Q446E 0.009 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 87 29 25.00 38 0 0.00 ZSWIM2 151112 genome.wustl.edu 37 2 187693353 187693353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 187693353 187693353 T G SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1260 p.K420N 0.896 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 17 11 39.29 49 0 0.00 ZSWIM2 151112 genome.wustl.edu 37 2 187693420 187693420 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 187693420 187693420 G A SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1193 p.S398L 0.000 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 58 24 29.27 99 0 0.00 ZSWIM2 151112 genome.wustl.edu 37 2 187693431 187693431 + Silent SNP A A C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1 725bd1b1-1da8-473b-87c4-43babf0dd4de 2 187693431 187693431 A C SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known silent c.1182 p.T394 0.999 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 14 5 26.32 53 0 0.00 ZSWIM3 140831 genome.wustl.edu 37 20 44506247 44506247 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44506247 44506247 C G SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1050 p.L350 0.999 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 23 17 42.50 48 0 0.00 ZSWIM3 140831 genome.wustl.edu 37 20 44506550 44506550 + Silent SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 20 44506550 44506550 G A SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1353 p.L451 0.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 13 10 43.48 31 0 0.00 ZSWIM3 140831 genome.wustl.edu 37 20 44507087 44507087 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44507087 44507087 C G SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1890 p.L630 0.491 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 19 33 63.46 60 0 0.00 ZSWIM4 65249 genome.wustl.edu 37 19 13910663 13910663 + Missense_Mutation SNP G G A TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e88a707-20f2-4cee-a1f4-21dd68ea49b8 3dc49f42-9237-4a15-8ff4-f6ec60a70467 19 13910663 13910663 G A SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.283 p.D95N 0.992 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 118 38 24.36 119 0 0.00 ZSWIM4 65249 genome.wustl.edu 37 19 13928068 13928068 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 13928068 13928068 G A SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 30 19 38.78 50 0 0.00 ZSWIM4 65249 genome.wustl.edu 37 19 13928068 13928068 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 13928068 13928068 G A SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 25 6 19.35 66 0 0.00 ZSWIM4 65249 genome.wustl.edu 37 19 13930181 13930181 + Silent SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b429a4aa-1a29-4e26-8236-7dc5f7c87b23 aa41db66-99b8-4d24-ba78-67271a579215 19 13930181 13930181 C T SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known silent c.1584 p.F528 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 32 17 34.69 65 0 0.00 ZSWIM4 65249 genome.wustl.edu 37 19 13936364 13936364 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq adc6fd47-b5a4-4db3-8431-0f1f6ec4b808 24106164-fe83-4734-ada3-bc3f28c07452 19 13936364 13936364 G T SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.1865 p.G622V 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 34 4 10.53 43 0 0.00 ZSWIM5 57643 genome.wustl.edu 37 1 45484400 45484400 + Missense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 81d5dd18-5488-4e1a-b8c8-3f1d08495ebd 8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c 1 45484400 45484400 C T SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known missense c.3284 p.R1095Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 32 29 47.54 30 0 0.00 ZSWIM5 57643 genome.wustl.edu 37 1 45524287 45524287 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45524287 45524287 C G SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known missense c.1246 p.E416Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 51 44 46.32 94 0 0.00 ZSWIM5 57643 genome.wustl.edu 37 1 45671717 45671717 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 45671717 45671717 G A SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known silent c.306 p.F102 0.997 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 29 20 40.82 23 0 0.00 ZSWIM6 57688 genome.wustl.edu 37 5 60834734 60834734 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 5 60834734 60834734 C T SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known silent c.2475 p.F825 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 32 28 46.67 48 0 0.00 ZSWIM6 57688 genome.wustl.edu 37 5 60839696 60839696 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 60839696 60839696 C G SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known missense c.3200 p.P1067R 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 22 8 26.67 53 0 0.00 ZSWIM6 57688 genome.wustl.edu 37 5 60839822 60839822 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 5 60839822 60839822 G A SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known missense c.3326 p.R1109H 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 56 18 24.32 89 0 0.00 ZSWIM8 23053 genome.wustl.edu 37 10 75545731 75545731 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 75545731 75545731 C T SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.95 p.S32F 0.998 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 34 5 12.50 53 0 0.00 ZSWIM8 23053 genome.wustl.edu 37 10 75554361 75554361 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75554361 75554361 G A SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.2872 p.E958K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 58 20 25.64 38 0 0.00 ZSWIM8 23053 genome.wustl.edu 37 10 75557291 75557291 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 75557291 75557291 C G SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.3590 p.S1197C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 27 18 40.00 20 0 0.00 ZSWIM8 23053 genome.wustl.edu 37 10 75558858 75558858 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 75558858 75558858 G A SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known nonsense c.4275 p.W1425* 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 31 17 35.42 50 0 0.00 ZSWIM8 23053 genome.wustl.edu 37 10 75560667 75560667 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 75560667 75560667 C T SNP ZSWIM8 ENST00000466568 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZSWIM8 HGNC ENSG00000214655 29 8 21.62 40 0 0.00 ZUFSP 221302 genome.wustl.edu 37 6 116988229 116988229 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 116988229 116988229 C A SNP ZUFSP ENST00000368576 human ensembl 70_37 -1 known nonsense c.127 p.E43* 1.000 smart_Znf_C2H2-like pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 22 47 68.12 50 0 0.00 ZW10 9183 genome.wustl.edu 37 11 113604472 113604472 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113604472 113604472 G A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known missense c.2284 p.R762C 1.000 NULL pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 22 12 35.29 34 0 0.00 ZW10 9183 genome.wustl.edu 37 11 113610023 113610023 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 113610023 113610023 G A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known silent c.1665 p.L555 0.038 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 62 22 26.19 68 0 0.00 ZW10 9183 genome.wustl.edu 37 11 113618265 113618265 + Missense_Mutation SNP A A C TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2900e30-5120-4349-8520-13bfab27dfc7 400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61 11 113618265 113618265 A C SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known missense c.1260 p.H420Q 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 22 17 43.59 45 0 0.00 ZW10 9183 genome.wustl.edu 37 11 113619050 113619050 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 113619050 113619050 C G SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known missense c.1018 p.E340Q 0.987 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 66 11 14.29 57 0 0.00 ZW10 9183 genome.wustl.edu 37 11 113631297 113631297 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 113631297 113631297 C A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known nonsense c.358 p.E120* 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 45 5 10.00 28 0 0.00 ZWILCH 55055 genome.wustl.edu 37 15 66816043 66816043 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 66816043 66816043 G C SNP ZWILCH ENST00000307897 human ensembl 70_37 +1 known missense c.776 p.R259T 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 57 31 35.23 151 0 0.00 ZWILCH 55055 genome.wustl.edu 37 15 66821259 66821259 + Missense_Mutation SNP G G A TCGA-EK-A2IP-01A-11D-A17W-09 TCGA-EK-A2IP-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6cfb3918-ae66-4ee9-8cb7-9734a389dbc5 25bb00b5-7c3d-4d0d-9acf-48af557a8094 15 66821259 66821259 G A SNP ZWILCH ENST00000307897 human ensembl 70_37 +1 known missense c.1039 p.D347N 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 24 13 35.14 26 0 0.00 ZWINT 11130 genome.wustl.edu 37 10 58118056 58118056 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 58118056 58118056 C G SNP ZWINT ENST00000478181 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZWINT HGNC ENSG00000122952 19 14 42.42 29 0 0.00 ZWINT 11130 genome.wustl.edu 37 10 58118352 58118352 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 58118352 58118352 C T SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known missense c.757 p.D253N 0.000 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 26 16 38.10 29 0 0.00 ZWINT 11130 genome.wustl.edu 37 10 58118402 58118402 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 58118402 58118402 G A SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known missense c.707 p.P236L 0.013 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 26 5 16.13 25 0 0.00 ZWINT 11130 genome.wustl.edu 37 10 58118684 58118684 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 58118684 58118684 C A SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known nonsense c.505 p.E169* 0.001 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 11 3 21.43 22 0 0.00 ZXDA 7789 genome.wustl.edu 37 X 57935544 57935544 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 X 57935544 57935544 C T SNP ZXDA ENST00000358697 human ensembl 70_37 -1 known silent c.1311 p.L437 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 55 35 38.89 64 0 0.00 ZXDA 7789 genome.wustl.edu 37 X 57936104 57936104 + Missense_Mutation SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 57936104 57936104 C T SNP ZXDA ENST00000358697 human ensembl 70_37 -1 known missense c.751 p.A251T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 11 8 42.11 15 0 0.00 ZXDB 158586 genome.wustl.edu 37 X 57619632 57619632 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 57619632 57619632 G A SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.1151 p.R384H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 65 11 14.47 126 0 0.00 ZXDB 158586 genome.wustl.edu 37 X 57620102 57620102 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 57620102 57620102 G A SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.1621 p.D541N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 47 14 22.95 42 0 0.00 ZXDB 158586 genome.wustl.edu 37 X 57620522 57620522 + Missense_Mutation SNP T T C TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 42448439-f7e1-447f-af5a-555da8dfb379 0f908e54-7301-47ea-880f-95dbcded8f62 X 57620522 57620522 T C SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.2041 p.F681L 0.954 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 14 8 36.36 28 0 0.00 ZXDC 79364 genome.wustl.edu 37 3 126193878 126193878 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 126193878 126193878 G A SNP ZXDC ENST00000389709 human ensembl 70_37 -1 known silent c.831 p.F277 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 67 22 24.72 69 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53308582 53308582 + Silent SNP C C T TCGA-EK-A2GZ-01A-11D-A17W-09 TCGA-EK-A2GZ-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 011036d5-7495-4d6f-9294-edd6cf42d72a 0c7a6420-3ad0-4790-9c3b-2139d4edcc0a 1 53308582 53308582 C T SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known silent c.27 p.H9 0.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 41 10 19.61 60 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53322948 53322948 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 53322948 53322948 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.535 p.Q179E 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 7 6 46.15 20 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53323185 53323185 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 53323185 53323185 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.772 p.L258V 0.990 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 33 18 35.29 49 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53323227 53323227 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 1 53323227 53323227 G C SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.814 p.D272H 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 3 27 90.00 38 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53326437 53326437 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 53326437 53326437 A G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.1043 p.E348G 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 51 14 21.54 52 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53352630 53352630 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 53352630 53352630 C A SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.2009 p.S670Y 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 20 22 52.38 83 0 0.00 ZYG11A 440590 genome.wustl.edu 37 1 53352634 53352634 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 53352634 53352634 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.2013 p.F671L 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 92 41 30.83 133 0 0.00 ZYG11B 79699 genome.wustl.edu 37 1 53222190 53222190 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53222190 53222190 G C SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.91 p.E31Q 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 31 16 32.65 45 0 0.00 ZYG11B 79699 genome.wustl.edu 37 1 53237052 53237052 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 34765b04-74bb-4a00-b9f6-52bb26ee8ad7 a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b 1 53237052 53237052 C G SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.557 p.P186R 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 21 16 43.24 39 0 0.00 ZYG11B 79699 genome.wustl.edu 37 1 53279239 53279239 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53279239 53279239 C T SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.1727 p.S576F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 19 3 13.64 14 0 0.00 ZYG11B 79699 genome.wustl.edu 37 1 53287173 53287173 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 53287173 53287173 G T SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.2107 p.D703Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 13 6 31.58 21 0 0.00 ZYX 7791 genome.wustl.edu 37 7 143079495 143079495 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 7 143079495 143079495 G A SNP ZYX ENST00000322764 human ensembl 70_37 +1 known silent c.363 p.P121 0.040 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 10 3 23.08 14 0 0.00 ZYX 7791 genome.wustl.edu 37 7 143080071 143080071 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 143080071 143080071 C T SNP ZYX ENST00000322764 human ensembl 70_37 +1 known nonsense c.679 p.Q227* 0.756 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 45 37 45.12 52 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3919733 3919733 + Silent SNP G G T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1f619d66-ddb0-4b45-91df-6d10a705f8bc 4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd 17 3919733 3919733 G T SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.8029 p.R2677 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 58 11 15.94 124 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3920807 3920807 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0a71de6-e7f8-4670-a438-52b1f1fcf97e b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c 17 3920807 3920807 C T SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known missense c.7859 p.R2620H 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 12 18 60.00 32 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3928305 3928305 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 3928305 3928305 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.7000 p.L2334 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 19 9 32.14 28 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3928361 3928361 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 3928361 3928361 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known missense c.6944 p.S2315F 0.079 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 78 24 23.53 106 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3969795 3969795 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3969795 3969795 C A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known nonsense c.4195 p.E1399* 0.562 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 39 16 29.09 82 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3989912 3989912 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 3989912 3989912 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.2380 p.L794 0.998 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 57 12 17.39 55 0 0.00 ZZEF1 23140 genome.wustl.edu 37 17 3999949 3999949 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63c6392f-5af1-4586-9b4c-ca1beb09fc9a 12582a88-5eb4-4234-a4e9-f19442bec145 17 3999949 3999949 G C SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known missense c.1718 p.S573C 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 11 8 42.11 13 0 0.00 ZZZ3 26009 genome.wustl.edu 37 1 78030556 78030556 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 78030556 78030556 G C SNP ZZZ3 ENST00000476275 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 13 6 31.58 18 0 0.00 ZZZ3 26009 genome.wustl.edu 37 1 78034071 78034071 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 78034071 78034071 C T SNP ZZZ3 ENST00000370801 human ensembl 70_37 -1 known silent c.2412 p.Q804 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 22 10 31.25 24 0 0.00 ZZZ3 26009 genome.wustl.edu 37 1 78098460 78098460 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 78098460 78098460 C T SNP ZZZ3 ENST00000370801 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 22 10 31.25 34 0 0.00